| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94029522A= | CA1140726121 | ABCA4 | c.4462T= (p.Cys1488=) c.838T= (p.Cys280=) | |
| 1 | g.94029522A>C | CA341284958 | ABCA4 | c.4462T>G (p.Cys1488Gly) c.838T>G (p.Cys280Gly) | |
| 1 | g.94029522A>G | CA227193 | ABCA4 | c.4462T>C (p.Cys1488Arg) c.838T>C (p.Cys280Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94029522A>T | CA341284960 | ABCA4 | c.4462T>A (p.Cys1488Ser) c.838T>A (p.Cys280Ser) | |
| 1 | g.94029523G>A | CA418824491 | ABCA4 | c.4461C>T (p.Ser1487=) c.837C>T (p.Ser279=) | |
| 1 | g.94029523G>C | CA418824493 | ABCA4 | c.4461C>G (p.Ser1487=) c.837C>G (p.Ser279=) | |
| 1 | g.94029523G>T | CA418824494 | ABCA4 | c.4461C>A (p.Ser1487=) c.837C>A (p.Ser279=) | |
| 1 | g.94029524G>A | CA341284962 | ABCA4 | c.4460C>T (p.Ser1487Phe) c.836C>T (p.Ser279Phe) | gnomAD v4 |
| 1 | g.94029524G>C | CA341284964 | ABCA4 | c.4460C>G (p.Ser1487Cys) c.836C>G (p.Ser279Cys) | ClinVar dbSNP |
| 1 | g.94029524G>T | CA341284965 | ABCA4 | c.4460C>A (p.Ser1487Tyr) c.836C>A (p.Ser279Tyr) | |
| 1 | g.94029525A>C | CA341284971 | ABCA4 | c.4459T>G (p.Ser1487Ala) c.835T>G (p.Ser279Ala) | |
| 1 | g.94029525A>G | CA341284969 | ABCA4 | c.4459T>C (p.Ser1487Pro) c.835T>C (p.Ser279Pro) | |
| 1 | g.94029525A>T | CA341284967 | ABCA4 | c.4459T>A (p.Ser1487Thr) c.835T>A (p.Ser279Thr) | |
| 1 | g.94029526del | CA2586966881 | ABCA4 | c.4458del (p.Ser1487ProfsTer?) c.834del (p.Ser279ProfsTer?) | |
| 1 | g.94029526T>A | CA418824508 | ABCA4 | c.4458A>T (p.Pro1486=) c.834A>T (p.Pro278=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94029526T>C | CA957602 | ABCA4 | c.4458A>G (p.Pro1486=) c.834A>G (p.Pro278=) | dbSNP ExAC gnomAD v2 |
| 1 | g.94029526T>G | CA418824511 | ABCA4 | c.4458A>C (p.Pro1486=) c.834A>C (p.Pro278=) | |
| 1 | g.94029526T= | CA1181414573 | ABCA4 | c.4458A= (p.Pro1486=) c.834A= (p.Pro278=) | |
| 1 | g.94029527G>A | CA227192 | ABCA4 | c.4457C>T (p.Pro1486Leu) c.833C>T (p.Pro278Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94029527G>C | CA341284974 | ABCA4 | c.4457C>G (p.Pro1486Arg) c.833C>G (p.Pro278Arg) | |
| 1 | g.94029527G= | CA1140726128 | ABCA4 | c.4457C= (p.Pro1486=) c.833C= (p.Pro278=) | |
| 1 | g.94029527G>T | CA341284975 | ABCA4 | c.4457C>A (p.Pro1486Gln) c.833C>A (p.Pro278Gln) | |
| 1 | g.94029528G>A | CA341284976 | ABCA4 | c.4456C>T (p.Pro1486Ser) c.832C>T (p.Pro278Ser) | |
| 1 | g.94029528G>C | CA341284977 | ABCA4 | c.4456C>G (p.Pro1486Ala) c.832C>G (p.Pro278Ala) | |
| 1 | g.94029528G>T | CA341284978 | ABCA4 | c.4456C>A (p.Pro1486Thr) c.832C>A (p.Pro278Thr) | |
| 1 | g.94029529T>A | CA418824523 | ABCA4 | c.4455A>T (p.Ser1485=) c.831A>T (p.Ser277=) | gnomAD v4 |
| 1 | g.94029529T>C | CA418824525 | ABCA4 | c.4455A>G (p.Ser1485=) c.831A>G (p.Ser277=) | |
| 1 | g.94029529T>G | CA418824527 | ABCA4 | c.4455A>C (p.Ser1485=) c.831A>C (p.Ser277=) | |
| 1 | g.94029530G>A | CA341284980 | ABCA4 | c.4454C>T (p.Ser1485Leu) c.830C>T (p.Ser277Leu) | dbSNP |
| 1 | g.94029530G>C | CA341284982 | ABCA4 | c.4454C>G (p.Ser1485Ter) c.830C>G (p.Ser277Ter) | |
| 1 | g.94029530G= | CA1181414574 | ABCA4 | c.4454C= (p.Ser1485=) c.830C= (p.Ser277=) | |
| 1 | g.94029530G>T | CA341284983 | ABCA4 | c.4454C>A (p.Ser1485Ter) c.830C>A (p.Ser277Ter) | |
| 1 | g.94029531A>C | CA341284985 | ABCA4 | c.4453T>G (p.Ser1485Ala) c.829T>G (p.Ser277Ala) | |
| 1 | g.94029531A>G | CA341284986 | ABCA4 | c.4453T>C (p.Ser1485Pro) c.829T>C (p.Ser277Pro) | |
| 1 | g.94029531A>T | CA341284987 | ABCA4 | c.4453T>A (p.Ser1485Thr) c.829T>A (p.Ser277Thr) | |
| 1 | g.94029532A= | CA1181414575 | ABCA4 | c.4452T= (p.Pro1484=) c.828T= (p.Pro276=) | |
| 1 | g.94029532A>C | CA418824546 | ABCA4 | c.4452T>G (p.Pro1484=) c.828T>G (p.Pro276=) | |
| 1 | g.94029532A>G | CA418824547 | ABCA4 | c.4452T>C (p.Pro1484=) c.828T>C (p.Pro276=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94029532A>T | CA418824548 | ABCA4 | c.4452T>A (p.Pro1484=) c.828T>A (p.Pro276=) | |
| 1 | g.94029533G>A | CA341284992 | ABCA4 | c.4451C>T (p.Pro1484Leu) c.827C>T (p.Pro276Leu) | |
| 1 | g.94029533G>C | CA341284990 | ABCA4 | c.4451C>G (p.Pro1484Arg) c.827C>G (p.Pro276Arg) | |
| 1 | g.94029533G>T | CA341284988 | ABCA4 | c.4451C>A (p.Pro1484His) c.827C>A (p.Pro276His) | |
| 1 | g.94029534G>A | CA341284993 | ABCA4 | c.4450C>T (p.Pro1484Ser) c.826C>T (p.Pro276Ser) | dbSNP |
| 1 | g.94029534G>C | CA341284995 | ABCA4 | c.4450C>G (p.Pro1484Ala) c.826C>G (p.Pro276Ala) | |
| 1 | g.94029534G= | CA1181414576 | ABCA4 | c.4450C= (p.Pro1484=) c.826C= (p.Pro276=) | |
| 1 | g.94029534G>T | CA341284996 | ABCA4 | c.4450C>A (p.Pro1484Thr) c.826C>A (p.Pro276Thr) | dbSNP |
| 1 | g.94029535G>A | CA418824556 | ABCA4 | c.4449C>T (p.Asn1483=) c.825C>T (p.Asn275=) | dbSNP gnomAD v4 |
| 1 | g.94029535G>C | CA341284997 | ABCA4 | c.4449C>G (p.Asn1483Lys) c.825C>G (p.Asn275Lys) | |
| 1 | g.94029535G= | CA1181414577 | ABCA4 | c.4449C= (p.Asn1483=) c.825C= (p.Asn275=) | |
| 1 | g.94029535G>T | CA341284998 | ABCA4 | c.4449C>A (p.Asn1483Lys) c.825C>A (p.Asn275Lys) |