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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94031781C>A | CA418825192 | ABCA4 | c.4125G>T (p.Ala1375=) c.501G>T (p.Ala167=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94031781C= | CA1181415419 | ABCA4 | c.4125G= (p.Ala1375=) c.501G= (p.Ala167=) | |
| 1 | g.94031781C>G | CA418825191 | ABCA4 | c.4125G>C (p.Ala1375=) c.501G>C (p.Ala167=) | dbSNP gnomAD v4 |
| 1 | g.94031781C>T | CA957723 | ABCA4 | c.4125G>A (p.Ala1375=) c.501G>A (p.Ala167=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.94031782G>A | CA341286705 | ABCA4 | c.4124C>T (p.Ala1375Val) c.500C>T (p.Ala167Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031782G>C | CA341286709 | ABCA4 | c.4124C>G (p.Ala1375Gly) c.500C>G (p.Ala167Gly) | |
| 1 | g.94031782G= | CA1181415420 | ABCA4 | c.4124C= (p.Ala1375=) c.500C= (p.Ala167=) | |
| 1 | g.94031782G>T | CA341286706 | ABCA4 | c.4124C>A (p.Ala1375Glu) c.500C>A (p.Ala167Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94031783C>A | CA341286711 | ABCA4 | c.4123G>T (p.Ala1375Ser) c.499G>T (p.Ala167Ser) | |
| 1 | g.94031783C>G | CA341286712 | ABCA4 | c.4123G>C (p.Ala1375Pro) c.499G>C (p.Ala167Pro) | |
| 1 | g.94031783C>T | CA341286714 | ABCA4 | c.4123G>A (p.Ala1375Thr) c.499G>A (p.Ala167Thr) | ClinVar gnomAD v4 |
| 1 | g.94031784C>A | CA418825194 | ABCA4 | c.4122G>T (p.Leu1374=) c.498G>T (p.Leu166=) | gnomAD v4 |
| 1 | g.94031784C= | CA1143615173 | ABCA4 | c.4122G= (p.Leu1374=) c.498G= (p.Leu166=) | |
| 1 | g.94031784C>G | CA418825195 | ABCA4 | c.4122G>C (p.Leu1374=) c.498G>C (p.Leu166=) | |
| 1 | g.94031784C>T | CA957724 | ABCA4 | c.4122G>A (p.Leu1374=) c.498G>A (p.Leu166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031785A>C | CA341286715 | ABCA4 | c.4121T>G (p.Leu1374Arg) c.497T>G (p.Leu166Arg) | |
| 1 | g.94031785A>G | CA341286717 | ABCA4 | c.4121T>C (p.Leu1374Pro) c.497T>C (p.Leu166Pro) | |
| 1 | g.94031785A>T | CA341286716 | ABCA4 | c.4121T>A (p.Leu1374Gln) c.497T>A (p.Leu166Gln) | COSMIC |
| 1 | g.94031786G>A | CA418825196 | ABCA4 | c.4120C>T (p.Leu1374=) c.496C>T (p.Leu166=) | |
| 1 | g.94031786G>C | CA341286718 | ABCA4 | c.4120C>G (p.Leu1374Val) c.496C>G (p.Leu166Val) | |
| 1 | g.94031786G>T | CA341286719 | ABCA4 | c.4120C>A (p.Leu1374Met) c.496C>A (p.Leu166Met) | |
| 1 | g.94031787G>A | CA957725 | ABCA4 | c.4119C>T (p.Phe1373=) c.495C>T (p.Phe165=) | ClinVar dbSNP ExAC |
| 1 | g.94031787G>C | CA341286723 | ABCA4 | c.4119C>G (p.Phe1373Leu) c.495C>G (p.Phe165Leu) | |
| 1 | g.94031787G= | CA1181415421 | ABCA4 | c.4119C= (p.Phe1373=) c.495C= (p.Phe165=) | |
| 1 | g.94031787G>T | CA341286728 | ABCA4 | c.4119C>A (p.Phe1373Leu) c.495C>A (p.Phe165Leu) | |
| 1 | g.94031788A>C | CA341286730 | ABCA4 | c.4118T>G (p.Phe1373Cys) c.494T>G (p.Phe165Cys) | |
| 1 | g.94031788A>G | CA341286736 | ABCA4 | c.4118T>C (p.Phe1373Ser) c.494T>C (p.Phe165Ser) | |
| 1 | g.94031788A>T | CA341286737 | ABCA4 | c.4118T>A (p.Phe1373Tyr) c.494T>A (p.Phe165Tyr) | |
| 1 | g.94031789A= | CA1181415422 | ABCA4 | c.4117T= (p.Phe1373=) c.493T= (p.Phe165=) | |
| 1 | g.94031789A>C | CA341286739 | ABCA4 | c.4117T>G (p.Phe1373Val) c.493T>G (p.Phe165Val) | gnomAD v4 |
| 1 | g.94031789A>G | CA341286741 | ABCA4 | c.4117T>C (p.Phe1373Leu) c.493T>C (p.Phe165Leu) | |
| 1 | g.94031789A>T | CA341286742 | ABCA4 | c.4117T>A (p.Phe1373Ile) c.493T>A (p.Phe165Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94031790G>A | CA418825200 | ABCA4 | c.4116C>T (p.Asp1372=) c.492C>T (p.Asp164=) | |
| 1 | g.94031790G>C | CA341286745 | ABCA4 | c.4116C>G (p.Asp1372Glu) c.492C>G (p.Asp164Glu) | |
| 1 | g.94031790G>T | CA341286748 | ABCA4 | c.4116C>A (p.Asp1372Glu) c.492C>A (p.Asp164Glu) | |
| 1 | g.94031791T>A | CA341286749 | ABCA4 | c.4115A>T (p.Asp1372Val) c.491A>T (p.Asp164Val) | |
| 1 | g.94031791T>C | CA341286751 | ABCA4 | c.4115A>G (p.Asp1372Gly) c.491A>G (p.Asp164Gly) | |
| 1 | g.94031791T>G | CA341286750 | ABCA4 | c.4115A>C (p.Asp1372Ala) c.491A>C (p.Asp164Ala) | ClinVar |
| 1 | g.94031792C>A | CA341286752 | ABCA4 | c.4114G>T (p.Asp1372Tyr) c.490G>T (p.Asp164Tyr) | |
| 1 | g.94031792C>G | CA341286753 | ABCA4 | c.4114G>C (p.Asp1372His) c.490G>C (p.Asp164His) | |
| 1 | g.94031792C>T | CA341286755 | ABCA4 | c.4114G>A (p.Asp1372Asn) c.490G>A (p.Asp164Asn) | COSMIC |
| 1 | g.94031793C>A | CA341286756 | ABCA4 | c.4113G>T (p.Lys1371Asn) c.489G>T (p.Lys163Asn) | |
| 1 | g.94031793C>G | CA341286758 | ABCA4 | c.4113G>C (p.Lys1371Asn) c.489G>C (p.Lys163Asn) | |
| 1 | g.94031793C>T | CA418825201 | ABCA4 | c.4113G>A (p.Lys1371=) c.489G>A (p.Lys163=) | gnomAD v4 COSMIC |
| 1 | g.94031794T>A | CA341286760 | ABCA4 | c.4112A>T (p.Lys1371Met) c.488A>T (p.Lys163Met) | |
| 1 | g.94031794T>C | CA957726 | ABCA4 | c.4112A>G (p.Lys1371Arg) c.488A>G (p.Lys163Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94031794T>G | CA341286762 | ABCA4 | c.4112A>C (p.Lys1371Thr) c.488A>C (p.Lys163Thr) | |
| 1 | g.94031794T= | CA1181415423 | ABCA4 | c.4112A= (p.Lys1371=) c.488A= (p.Lys163=) | |
| 1 | g.94031795T>A | CA341286763 | ABCA4 | c.4111A>T (p.Lys1371Ter) c.487A>T (p.Lys163Ter) | dbSNP |
| 1 | g.94031795T>C | CA341286764 | ABCA4 | c.4111A>G (p.Lys1371Glu) c.487A>G (p.Lys163Glu) | gnomAD v4 |
| 1 | g.94031795T>G | CA341286765 | ABCA4 | c.4111A>C (p.Lys1371Gln) c.487A>C (p.Lys163Gln) | |
| 1 | g.94031795T= | CA1181415424 | ABCA4 | c.4111A= (p.Lys1371=) c.487A= (p.Lys163=) | |
| 1 | g.94031796G>A | CA418825205 | ABCA4 | c.4110C>T (p.His1370=) c.486C>T (p.His162=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94031796G>C | CA341286766 | ABCA4 | c.4110C>G (p.His1370Gln) c.486C>G (p.His162Gln) | |
| 1 | g.94031796G= | CA1181415425 | ABCA4 | c.4110C= (p.His1370=) c.486C= (p.His162=) | |
| 1 | g.94031796G>T | CA341286767 | ABCA4 | c.4110C>A (p.His1370Gln) c.486C>A (p.His162Gln) | |
| 1 | g.94031797T>A | CA341286768 | ABCA4 | c.4109A>T (p.His1370Leu) c.485A>T (p.His162Leu) | |
| 1 | g.94031797T>C | CA341286770 | ABCA4 | c.4109A>G (p.His1370Arg) c.485A>G (p.His162Arg) | gnomAD v4 |
| 1 | g.94031797T>G | CA341286769 | ABCA4 | c.4109A>C (p.His1370Pro) c.485A>C (p.His162Pro) | |
| 1 | g.94031797_94031798delinsTG | CA1181415426 | ABCA4 | c.4108_4109delinsCA (p.His1370=) c.484_485delinsCA (p.His162=) | |
| 1 | g.94031798G>A | CA341286771 | ABCA4 | c.4108C>T (p.His1370Tyr) c.484C>T (p.His162Tyr) | |
| 1 | g.94031798G>C | CA341286772 | ABCA4 | c.4108C>G (p.His1370Asp) c.484C>G (p.His162Asp) | |
| 1 | g.94031798G>T | CA341286773 | ABCA4 | c.4108C>A (p.His1370Asn) c.484C>A (p.His162Asn) | |
| 1 | g.94031799del | CA915941341 | ABCA4 | c.4108del (p.His1370ThrfsTer19) c.484del (p.His162ThrfsTer19) | ClinVar dbSNP |
| 1 | g.94031799G>A | CA418825206 | ABCA4 | c.4107C>T (p.Ser1369=) c.483C>T (p.Ser161=) | |
| 1 | g.94031799G>C | CA341286774 | ABCA4 | c.4107C>G (p.Ser1369Arg) c.483C>G (p.Ser161Arg) | gnomAD v4 |
| 1 | g.94031799G>T | CA341286775 | ABCA4 | c.4107C>A (p.Ser1369Arg) c.483C>A (p.Ser161Arg) | |
| 1 | g.94031800C>A | CA341286776 | ABCA4 | c.4106G>T (p.Ser1369Ile) c.482G>T (p.Ser161Ile) | |
| 1 | g.94031800C>G | CA341286777 | ABCA4 | c.4106G>C (p.Ser1369Thr) c.482G>C (p.Ser161Thr) | |
| 1 | g.94031800C>T | CA341286778 | ABCA4 | c.4106G>A (p.Ser1369Asn) c.482G>A (p.Ser161Asn) | gnomAD v4 |
| 1 | g.94031801T>A | CA341286779 | ABCA4 | c.4105A>T (p.Ser1369Cys) c.481A>T (p.Ser161Cys) | |
| 1 | g.94031801T>C | CA341286780 | ABCA4 | c.4105A>G (p.Ser1369Gly) c.481A>G (p.Ser161Gly) | |
| 1 | g.94031801T>G | CA341286782 | ABCA4 | c.4105A>C (p.Ser1369Arg) c.481A>C (p.Ser161Arg) | |
| 1 | g.94031802G>A | CA418825208 | ABCA4 | c.4104C>T (p.Arg1368=) c.480C>T (p.Arg160=) | |
| 1 | g.94031802G>C | CA418825209 | ABCA4 | c.4104C>G (p.Arg1368=) c.480C>G (p.Arg160=) | |
| 1 | g.94031802G>T | CA418825210 | ABCA4 | c.4104C>A (p.Arg1368=) c.480C>A (p.Arg160=) | |
| 1 | g.94031803C>A | CA341286789 | ABCA4 | c.4103G>T (p.Arg1368Leu) c.479G>T (p.Arg160Leu) | ClinVar dbSNP |
| 1 | g.94031803C= | CA1181415427 | ABCA4 | c.4103G= (p.Arg1368=) c.479G= (p.Arg160=) | |
| 1 | g.94031803C>G | CA341286786 | ABCA4 | c.4103G>C (p.Arg1368Pro) c.479G>C (p.Arg160Pro) | |
| 1 | g.94031803C>T | CA957727 | ABCA4 | c.4103G>A (p.Arg1368His) c.479G>A (p.Arg160His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.94031804G>A | CA341286798 | ABCA4 | c.4102C>T (p.Arg1368Cys) c.478C>T (p.Arg160Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94031804G>C | CA341286794 | ABCA4 | c.4102C>G (p.Arg1368Gly) c.478C>G (p.Arg160Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031804G= | CA1181415428 | ABCA4 | c.4102C= (p.Arg1368=) c.478C= (p.Arg160=) | |
| 1 | g.94031804G>T | CA341286796 | ABCA4 | c.4102C>A (p.Arg1368Ser) c.478C>A (p.Arg160Ser) | |
| 1 | g.94031806_94031809dup | CA2739272724 | ABCA4 | c.4099_4102dup (p.Arg1368HisfsTer?) c.475_478dup (p.Arg160HisfsTer?) | ClinVar |
| 1 | g.94031805G>A | CA418825212 | ABCA4 | c.4101C>T (p.Ile1367=) c.477C>T (p.Ile159=) | ClinVar dbSNP |
| 1 | g.94031805G>C | CA341286802 | ABCA4 | c.4101C>G (p.Ile1367Met) c.477C>G (p.Ile159Met) | |
| 1 | g.94031805G>T | CA418825211 | ABCA4 | c.4101C>A (p.Ile1367=) c.477C>A (p.Ile159=) | |
| 1 | g.94031806A= | CA1181415429 | ABCA4 | c.4100T= (p.Ile1367=) c.476T= (p.Ile159=) | |
| 1 | g.94031806A>C | CA341286803 | ABCA4 | c.4100T>G (p.Ile1367Ser) c.476T>G (p.Ile159Ser) | |
| 1 | g.94031806A>G | CA341286807 | ABCA4 | c.4100T>C (p.Ile1367Thr) c.476T>C (p.Ile159Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031806A>T | CA26855343 | ABCA4 | c.4100T>A (p.Ile1367Asn) c.476T>A (p.Ile159Asn) | dbSNP gnomAD v4 |
| 1 | g.94031807T>A | CA341286810 | ABCA4 | c.4099A>T (p.Ile1367Phe) c.475A>T (p.Ile159Phe) | |
| 1 | g.94031807T>C | CA341286817 | ABCA4 | c.4099A>G (p.Ile1367Val) c.475A>G (p.Ile159Val) | gnomAD v4 |
| 1 | g.94031807T>G | CA341286818 | ABCA4 | c.4099A>C (p.Ile1367Leu) c.475A>C (p.Ile159Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94031807T= | CA1181415430 | ABCA4 | c.4099A= (p.Ile1367=) c.475A= (p.Ile159=) | |
| 1 | g.94031808G>A | CA418825214 | ABCA4 | c.4098C>T (p.Thr1366=) c.474C>T (p.Thr158=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031808G>C | CA418825215 | ABCA4 | c.4098C>G (p.Thr1366=) c.474C>G (p.Thr158=) | |
| 1 | g.94031808G= | CA1181415431 | ABCA4 | c.4098C= (p.Thr1366=) c.474C= (p.Thr158=) | |
| 1 | g.94031808G>T | CA418825216 | ABCA4 | c.4098C>A (p.Thr1366=) c.474C>A (p.Thr158=) | |
| 1 | g.94031809dup | CA2837995444 | ABCA4 | c.4098dup (p.Ile1367HisfsTer?) c.474dup (p.Ile159HisfsTer?) | |
| 1 | g.94031809G>A | CA341286821 | ABCA4 | c.4097C>T (p.Thr1366Ile) c.473C>T (p.Thr158Ile) | |
| 1 | g.94031809G>C | CA341286827 | ABCA4 | c.4097C>G (p.Thr1366Ser) c.473C>G (p.Thr158Ser) | |
| 1 | g.94031809G= | CA1181415432 | ABCA4 | c.4097C= (p.Thr1366=) c.473C= (p.Thr158=) | |
| 1 | g.94031809G>T | CA341286830 | ABCA4 | c.4097C>A (p.Thr1366Asn) c.473C>A (p.Thr158Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94031810T>A | CA341286833 | ABCA4 | c.4096A>T (p.Thr1366Ser) c.472A>T (p.Thr158Ser) | |
| 1 | g.94031810T>C | CA341286835 | ABCA4 | c.4096A>G (p.Thr1366Ala) c.472A>G (p.Thr158Ala) | |
| 1 | g.94031810T>G | CA957728 | ABCA4 | c.4096A>C (p.Thr1366Pro) c.472A>C (p.Thr158Pro) | dbSNP ExAC gnomAD v2 |
| 1 | g.94031810T= | CA1181415433 | ABCA4 | c.4096A= (p.Thr1366=) c.472A= (p.Thr158=) | |
| 1 | g.94031811G>A | CA957729 | ABCA4 | c.4095C>T (p.His1365=) c.471C>T (p.His157=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94031811G>C | CA341286840 | ABCA4 | c.4095C>G (p.His1365Gln) c.471C>G (p.His157Gln) | |
| 1 | g.94031811G= | CA1181415434 | ABCA4 | c.4095C= (p.His1365=) c.471C= (p.His157=) | |
| 1 | g.94031811G>T | CA341286843 | ABCA4 | c.4095C>A (p.His1365Gln) c.471C>A (p.His157Gln) | dbSNP |
| 1 | g.94031812T>A | CA341286844 | ABCA4 | c.4094A>T (p.His1365Leu) c.470A>T (p.His157Leu) | |
| 1 | g.94031812T>C | CA341286848 | ABCA4 | c.4094A>G (p.His1365Arg) c.470A>G (p.His157Arg) | |
| 1 | g.94031812T>G | CA341286849 | ABCA4 | c.4094A>C (p.His1365Pro) c.470A>C (p.His157Pro) | dbSNP |
| 1 | g.94031812T= | CA1181415435 | ABCA4 | c.4094A= (p.His1365=) c.470A= (p.His157=) | |
| 1 | g.94031813G>A | CA341286852 | ABCA4 | c.4093C>T (p.His1365Tyr) c.469C>T (p.His157Tyr) | gnomAD v4 |
| 1 | g.94031813G>C | CA341286867 | ABCA4 | c.4093C>G (p.His1365Asp) c.469C>G (p.His157Asp) | |
| 1 | g.94031813G>T | CA341286863 | ABCA4 | c.4093C>A (p.His1365Asn) c.469C>A (p.His157Asn) | |
| 1 | g.94031814T>A | CA341286875 | ABCA4 | c.4092A>T (p.Gln1364His) c.468A>T (p.Gln156His) | |
| 1 | g.94031814T>C | CA418825221 | ABCA4 | c.4092A>G (p.Gln1364=) c.468A>G (p.Gln156=) | gnomAD v4 |
| 1 | g.94031814T>G | CA341286877 | ABCA4 | c.4092A>C (p.Gln1364His) c.468A>C (p.Gln156His) | ClinVar dbSNP |
| 1 | g.94031814T= | CA1181415436 | ABCA4 | c.4092A= (p.Gln1364=) c.468A= (p.Gln156=) | |
| 1 | g.94031815T>A | CA341286881 | ABCA4 | c.4091A>T (p.Gln1364Leu) c.467A>T (p.Gln156Leu) | |
| 1 | g.94031815T>C | CA341286885 | ABCA4 | c.4091A>G (p.Gln1364Arg) c.467A>G (p.Gln156Arg) | |
| 1 | g.94031815T>G | CA341286886 | ABCA4 | c.4091A>C (p.Gln1364Pro) c.467A>C (p.Gln156Pro) | |
| 1 | g.94031816G>A | CA341286891 | ABCA4 | c.4090C>T (p.Gln1364Ter) c.466C>T (p.Gln156Ter) | |
| 1 | g.94031816G>C | CA341286892 | ABCA4 | c.4090C>G (p.Gln1364Glu) c.466C>G (p.Gln156Glu) | gnomAD v4 |
| 1 | g.94031816G>T | CA341286888 | ABCA4 | c.4090C>A (p.Gln1364Lys) c.466C>A (p.Gln156Lys) | ClinVar gnomAD v4 |
| 1 | g.94031817G>A | CA957730 | ABCA4 | c.4089C>T (p.Phe1363=) c.465C>T (p.Phe155=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94031817G>C | CA341286894 | ABCA4 | c.4089C>G (p.Phe1363Leu) c.465C>G (p.Phe155Leu) | gnomAD v4 |
| 1 | g.94031817G= | CA1181415437 | ABCA4 | c.4089C= (p.Phe1363=) c.465C= (p.Phe155=) | |
| 1 | g.94031817G>T | CA341286896 | ABCA4 | c.4089C>A (p.Phe1363Leu) c.465C>A (p.Phe155Leu) | |
| 1 | g.94031818A= | CA1181415438 | ABCA4 | c.4088T= (p.Phe1363=) c.464T= (p.Phe155=) | |
| 1 | g.94031818A>C | CA341286899 | ABCA4 | c.4088T>G (p.Phe1363Cys) c.464T>G (p.Phe155Cys) | |
| 1 | g.94031818A>G | CA341286900 | ABCA4 | c.4088T>C (p.Phe1363Ser) c.464T>C (p.Phe155Ser) | dbSNP |
| 1 | g.94031818A>T | CA341286908 | ABCA4 | c.4088T>A (p.Phe1363Tyr) c.464T>A (p.Phe155Tyr) | |
| 1 | g.94031819A>C | CA341286910 | ABCA4 | c.4087T>G (p.Phe1363Val) c.463T>G (p.Phe155Val) | |
| 1 | g.94031819A>G | CA341286911 | ABCA4 | c.4087T>C (p.Phe1363Leu) c.463T>C (p.Phe155Leu) | |
| 1 | g.94031819A>T | CA341286913 | ABCA4 | c.4087T>A (p.Phe1363Ile) c.463T>A (p.Phe155Ile) | |
| 1 | g.94031820T>A | CA341286915 | ABCA4 | c.4086A>T (p.Arg1362Ser) c.462A>T (p.Arg154Ser) | |
| 1 | g.94031820T>C | CA418825225 | ABCA4 | c.4086A>G (p.Arg1362=) c.462A>G (p.Arg154=) | |
| 1 | g.94031820T>G | CA341286918 | ABCA4 | c.4086A>C (p.Arg1362Ser) c.462A>C (p.Arg154Ser) | |
| 1 | g.94031821C>A | CA341286924 | ABCA4 | c.4085G>T (p.Arg1362Ile) c.461G>T (p.Arg154Ile) | |
| 1 | g.94031821C>G | CA341286927 | ABCA4 | c.4085G>C (p.Arg1362Thr) c.461G>C (p.Arg154Thr) | |
| 1 | g.94031821C>T | CA341286929 | ABCA4 | c.4085G>A (p.Arg1362Lys) c.461G>A (p.Arg154Lys) | |
| 1 | g.94031822T>A | CA341286932 | ABCA4 | c.4084A>T (p.Arg1362Ter) c.460A>T (p.Arg154Ter) | |
| 1 | g.94031822T>C | CA341286930 | ABCA4 | c.4084A>G (p.Arg1362Gly) c.460A>G (p.Arg154Gly) | |
| 1 | g.94031822T>G | CA418825229 | ABCA4 | c.4084A>C (p.Arg1362=) c.460A>C (p.Arg154=) | |
| 1 | g.94031823C>A | CA341286933 | ABCA4 | c.4083G>T (p.Lys1361Asn) c.459G>T (p.Lys153Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94031823C= | CA1181415439 | ABCA4 | c.4083G= (p.Lys1361=) c.459G= (p.Lys153=) | |
| 1 | g.94031823C>G | CA341286935 | ABCA4 | c.4083G>C (p.Lys1361Asn) c.459G>C (p.Lys153Asn) | |
| 1 | g.94031823C>T | CA418825230 | ABCA4 | c.4083G>A (p.Lys1361=) c.459G>A (p.Lys153=) | |
| 1 | g.94031824T>A | CA341286937 | ABCA4 | c.4082A>T (p.Lys1361Met) c.458A>T (p.Lys153Met) | |
| 1 | g.94031824T>C | CA341286939 | ABCA4 | c.4082A>G (p.Lys1361Arg) c.458A>G (p.Lys153Arg) | |
| 1 | g.94031824T>G | CA341286940 | ABCA4 | c.4082A>C (p.Lys1361Thr) c.458A>C (p.Lys153Thr) | |
| 1 | g.94031825T>A | CA341286947 | ABCA4 | c.4081A>T (p.Lys1361Ter) c.457A>T (p.Lys153Ter) | |
| 1 | g.94031825T>C | CA341286944 | ABCA4 | c.4081A>G (p.Lys1361Glu) c.457A>G (p.Lys153Glu) | |
| 1 | g.94031825T>G | CA341286943 | ABCA4 | c.4081A>C (p.Lys1361Gln) c.457A>C (p.Lys153Gln) | |
| 1 | g.94031826G>A | CA418825235 | ABCA4 | c.4080C>T (p.Val1360=) c.456C>T (p.Val152=) | |
| 1 | g.94031826G>C | CA418825233 | ABCA4 | c.4080C>G (p.Val1360=) c.456C>G (p.Val152=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94031826G>T | CA418825234 | ABCA4 | c.4080C>A (p.Val1360=) c.456C>A (p.Val152=) | |
| 1 | g.94031827A= | CA1181415440 | ABCA4 | c.4079T= (p.Val1360=) c.455T= (p.Val152=) | |
| 1 | g.94031827A>C | CA341286949 | ABCA4 | c.4079T>G (p.Val1360Gly) c.455T>G (p.Val152Gly) | |
| 1 | g.94031827A>G | CA341286951 | ABCA4 | c.4079T>C (p.Val1360Ala) c.455T>C (p.Val152Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94031827A>T | CA341286953 | ABCA4 | c.4079T>A (p.Val1360Asp) c.455T>A (p.Val152Asp) | ClinVar dbSNP |
| 1 | g.94031828C>A | CA341286954 | ABCA4 | c.4078G>T (p.Val1360Phe) c.454G>T (p.Val152Phe) | dbSNP |
| 1 | g.94031828C= | CA1181415441 | ABCA4 | c.4078G= (p.Val1360=) c.454G= (p.Val152=) | |
| 1 | g.94031828C>G | CA341286956 | ABCA4 | c.4078G>C (p.Val1360Leu) c.454G>C (p.Val152Leu) | |
| 1 | g.94031828C>T | CA341286958 | ABCA4 | c.4078G>A (p.Val1360Ile) c.454G>A (p.Val152Ile) | gnomAD v4 |
| 1 | g.94031829C>A | CA418825236 | ABCA4 | c.4077G>T (p.Leu1359=) c.453G>T (p.Leu151=) | |
| 1 | g.94031829C>G | CA418825237 | ABCA4 | c.4077G>C (p.Leu1359=) c.453G>C (p.Leu151=) | |
| 1 | g.94031829C>T | CA418825238 | ABCA4 | c.4077G>A (p.Leu1359=) c.453G>A (p.Leu151=) | gnomAD v4 |
| 1 | g.94031830A>C | CA341286960 | ABCA4 | c.4076T>G (p.Leu1359Arg) c.452T>G (p.Leu151Arg) | |
| 1 | g.94031830A>G | CA341286964 | ABCA4 | c.4076T>C (p.Leu1359Pro) c.452T>C (p.Leu151Pro) | |
| 1 | g.94031830A>T | CA341286962 | ABCA4 | c.4076T>A (p.Leu1359Gln) c.452T>A (p.Leu151Gln) | COSMIC |
| 1 | g.94031831G>A | CA418825242 | ABCA4 | c.4075C>T (p.Leu1359=) c.451C>T (p.Leu151=) | |
| 1 | g.94031831G>C | CA341286965 | ABCA4 | c.4075C>G (p.Leu1359Val) c.451C>G (p.Leu151Val) | |
| 1 | g.94031831G>T | CA341286967 | ABCA4 | c.4075C>A (p.Leu1359Met) c.451C>A (p.Leu151Met) | |
| 1 | g.94031832C>A | CA418825243 | ABCA4 | c.4074G>T (p.Leu1358=) c.450G>T (p.Leu150=) | |
| 1 | g.94031832C>G | CA418825244 | ABCA4 | c.4074G>C (p.Leu1358=) c.450G>C (p.Leu150=) | |
| 1 | g.94031832C>T | CA418825245 | ABCA4 | c.4074G>A (p.Leu1358=) c.450G>A (p.Leu150=) | gnomAD v4 |
| 1 | g.94031832_94031833dup | CA2646650095 | ABCA4 | c.4073_4074dup (p.Leu1359CysfsTer?) c.449_450dup (p.Leu151CysfsTer?) | gnomAD v4 |
| 1 | g.94031833A= | CA1140726183 | ABCA4 | c.4073T= (p.Leu1358=) c.449T= (p.Leu150=) | |
| 1 | g.94031833A>C | CA341286969 | ABCA4 | c.4073T>G (p.Leu1358Arg) c.449T>G (p.Leu150Arg) | |
| 1 | g.94031833A>G | CA227155 | ABCA4 | c.4073T>C (p.Leu1358Pro) c.449T>C (p.Leu150Pro) | ClinVar dbSNP |
| 1 | g.94031833A>T | CA341286972 | ABCA4 | c.4073T>A (p.Leu1358Gln) c.449T>A (p.Leu150Gln) | |
| 1 | g.94031834G>A | CA418825246 | ABCA4 | c.4072C>T (p.Leu1358=) c.448C>T (p.Leu150=) | |
| 1 | g.94031834G>C | CA341286977 | ABCA4 | c.4072C>G (p.Leu1358Val) c.448C>G (p.Leu150Val) | |
| 1 | g.94031834G>T | CA341286979 | ABCA4 | c.4072C>A (p.Leu1358Met) c.448C>A (p.Leu150Met) | |
| 1 | g.94031835C>A | CA418825247 | ABCA4 | c.4071G>T (p.Ala1357=) c.447G>T (p.Ala149=) | |
| 1 | g.94031835C= | CA1181415442 | ABCA4 | c.4071G= (p.Ala1357=) c.447G= (p.Ala149=) | |
| 1 | g.94031835C>G | CA418825248 | ABCA4 | c.4071G>C (p.Ala1357=) c.447G>C (p.Ala149=) | |
| 1 | g.94031835C>T | CA957731 | ABCA4 | c.4071G>A (p.Ala1357=) c.447G>A (p.Ala149=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.94031836G>A | CA341286982 | ABCA4 | c.4070C>T (p.Ala1357Val) c.446C>T (p.Ala149Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94031836G>C | CA957732 | ABCA4 | c.4070C>G (p.Ala1357Gly) c.446C>G (p.Ala149Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031836G= | CA1146161224 | ABCA4 | c.4070C= (p.Ala1357=) c.446C= (p.Ala149=) | |
| 1 | g.94031836G>T | CA341286986 | ABCA4 | c.4070C>A (p.Ala1357Glu) c.446C>A (p.Ala149Glu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94031837C>A | CA341286991 | ABCA4 | c.4069G>T (p.Ala1357Ser) c.445G>T (p.Ala149Ser) | |
| 1 | g.94031837C= | CA1181415443 | ABCA4 | c.4069G= (p.Ala1357=) c.445G= (p.Ala149=) | |
| 1 | g.94031837C>G | CA341286989 | ABCA4 | c.4069G>C (p.Ala1357Pro) c.445G>C (p.Ala149Pro) | |
| 1 | g.94031837C>T | CA957733 | ABCA4 | c.4069G>A (p.Ala1357Thr) c.445G>A (p.Ala149Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031838C>A | CA341286993 | ABCA4 | c.4068G>T (p.Gln1356His) c.444G>T (p.Gln148His) | COSMIC |
| 1 | g.94031838C= | CA1181415444 | ABCA4 | c.4068G= (p.Gln1356=) c.444G= (p.Gln148=) | |
| 1 | g.94031838C>G | CA341286995 | ABCA4 | c.4068G>C (p.Gln1356His) c.444G>C (p.Gln148His) | |
| 1 | g.94031838C>T | CA418825249 | ABCA4 | c.4068G>A (p.Gln1356=) c.444G>A (p.Gln148=) | dbSNP |
| 1 | g.94031839_94031865del | CA2739292004 | ABCA4 | c.4042_4068del (p.Thr1348_Gln1356del) c.418_444del (p.Thr140_Gln148del) | |
| 1 | g.94031839T>A | CA341286997 | ABCA4 | c.4067A>T (p.Gln1356Leu) c.443A>T (p.Gln148Leu) | |
| 1 | g.94031839T>C | CA341286998 | ABCA4 | c.4067A>G (p.Gln1356Arg) c.443A>G (p.Gln148Arg) | gnomAD v4 |
| 1 | g.94031839T>G | CA26855366 | ABCA4 | c.4067A>C (p.Gln1356Pro) c.443A>C (p.Gln148Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94031839T= | CA1181415445 | ABCA4 | c.4067A= (p.Gln1356=) c.443A= (p.Gln148=) | |
| 1 | g.94031840G>A | CA341287001 | ABCA4 | c.4066C>T (p.Gln1356Ter) c.442C>T (p.Gln148Ter) | COSMIC |
| 1 | g.94031840G>C | CA341287003 | ABCA4 | c.4066C>G (p.Gln1356Glu) c.442C>G (p.Gln148Glu) | gnomAD v4 |
| 1 | g.94031840G>T | CA341287005 | ABCA4 | c.4066C>A (p.Gln1356Lys) c.442C>A (p.Gln148Lys) | |
| 1 | g.94031841C>A | CA418825251 | ABCA4 | c.4065G>T (p.Val1355=) c.441G>T (p.Val147=) | |
| 1 | g.94031841C= | CA1147677974 | ABCA4 | c.4065G= (p.Val1355=) c.441G= (p.Val147=) | |
| 1 | g.94031841C>G | CA418825253 | ABCA4 | c.4065G>C (p.Val1355=) c.441G>C (p.Val147=) | |
| 1 | g.94031841C>T | CA957734 | ABCA4 | c.4065G>A (p.Val1355=) c.441G>A (p.Val147=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031842A= | CA1181415446 | ABCA4 | c.4064T= (p.Val1355=) c.440T= (p.Val147=) | |
| 1 | g.94031842A>C | CA341287008 | ABCA4 | c.4064T>G (p.Val1355Gly) c.440T>G (p.Val147Gly) | |
| 1 | g.94031842A>G | CA957735 | ABCA4 | c.4064T>C (p.Val1355Ala) c.440T>C (p.Val147Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94031842A>T | CA341287012 | ABCA4 | c.4064T>A (p.Val1355Glu) c.440T>A (p.Val147Glu) | |
| 1 | g.94031843C>A | CA341287014 | ABCA4 | c.4063G>T (p.Val1355Leu) c.439G>T (p.Val147Leu) | |
| 1 | g.94031843C>G | CA341287016 | ABCA4 | c.4063G>C (p.Val1355Leu) c.439G>C (p.Val147Leu) | |
| 1 | g.94031843C>T | CA341287015 | ABCA4 | c.4063G>A (p.Val1355Met) c.439G>A (p.Val147Met) | |
| 1 | g.94031844A= | CA1181415447 | ABCA4 | c.4062T= (p.His1354=) c.438T= (p.His146=) | |
| 1 | g.94031844A>C | CA341287018 | ABCA4 | c.4062T>G (p.His1354Gln) c.438T>G (p.His146Gln) | |
| 1 | g.94031844A>G | CA957736 | ABCA4 | c.4062T>C (p.His1354=) c.438T>C (p.His146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94031844A>T | CA341287019 | ABCA4 | c.4062T>A (p.His1354Gln) c.438T>A (p.His146Gln) | |
| 1 | g.94031845T>A | CA341287022 | ABCA4 | c.4061A>T (p.His1354Leu) c.437A>T (p.His146Leu) | |
| 1 | g.94031845T>C | CA341287025 | ABCA4 | c.4061A>G (p.His1354Arg) c.437A>G (p.His146Arg) | |
| 1 | g.94031845T>G | CA341287023 | ABCA4 | c.4061A>C (p.His1354Pro) c.437A>C (p.His146Pro) | ClinVar dbSNP |
| 1 | g.94031846G>A | CA341287027 | ABCA4 | c.4060C>T (p.His1354Tyr) c.436C>T (p.His146Tyr) | gnomAD v4 |
| 1 | g.94031846G>C | CA341287028 | ABCA4 | c.4060C>G (p.His1354Asp) c.436C>G (p.His146Asp) | |
| 1 | g.94031846G>T | CA341287030 | ABCA4 | c.4060C>A (p.His1354Asn) c.436C>A (p.His146Asn) | |
| 1 | g.94031847C>A | CA341287032 | ABCA4 | c.4059G>T (p.Gln1353His) c.435G>T (p.Gln145His) | |
| 1 | g.94031847C>G | CA341287033 | ABCA4 | c.4059G>C (p.Gln1353His) c.435G>C (p.Gln145His) | |
| 1 | g.94031847C>T | CA418825256 | ABCA4 | c.4059G>A (p.Gln1353=) c.435G>A (p.Gln145=) | ClinVar |
| 1 | g.94031848T>A | CA341287035 | ABCA4 | c.4058A>T (p.Gln1353Leu) c.434A>T (p.Gln145Leu) | |
| 1 | g.94031848T>C | CA341287036 | ABCA4 | c.4058A>G (p.Gln1353Arg) c.434A>G (p.Gln145Arg) | |
| 1 | g.94031848T>G | CA341287037 | ABCA4 | c.4058A>C (p.Gln1353Pro) c.434A>C (p.Gln145Pro) | |
| 1 | g.94031849G>A | CA341287038 | ABCA4 | c.4057C>T (p.Gln1353Ter) c.433C>T (p.Gln145Ter) | ClinVar dbSNP |
| 1 | g.94031849G>C | CA341287039 | ABCA4 | c.4057C>G (p.Gln1353Glu) c.433C>G (p.Gln145Glu) | |
| 1 | g.94031849G>T | CA341287041 | ABCA4 | c.4057C>A (p.Gln1353Lys) c.433C>A (p.Gln145Lys) | |
| 1 | g.94031850G>A | CA418825257 | ABCA4 | c.4056C>T (p.Leu1352=) c.432C>T (p.Leu144=) | gnomAD v4 |
| 1 | g.94031850G>C | CA418825258 | ABCA4 | c.4056C>G (p.Leu1352=) c.432C>G (p.Leu144=) | |
| 1 | g.94031850G>T | CA418825259 | ABCA4 | c.4056C>A (p.Leu1352=) c.432C>A (p.Leu144=) | |
| 1 | g.94031851A>C | CA341287045 | ABCA4 | c.4055T>G (p.Leu1352Arg) c.431T>G (p.Leu144Arg) | |
| 1 | g.94031851A>G | CA341287042 | ABCA4 | c.4055T>C (p.Leu1352Pro) c.431T>C (p.Leu144Pro) | |
| 1 | g.94031851A>T | CA341287044 | ABCA4 | c.4055T>A (p.Leu1352His) c.431T>A (p.Leu144His) | |
| 1 | g.94031852G>A | CA341287047 | ABCA4 | c.4054C>T (p.Leu1352Phe) c.430C>T (p.Leu144Phe) | |
| 1 | g.94031852G>C | CA341287048 | ABCA4 | c.4054C>G (p.Leu1352Val) c.430C>G (p.Leu144Val) | |
| 1 | g.94031852G>T | CA341287049 | ABCA4 | c.4054C>A (p.Leu1352Ile) c.430C>A (p.Leu144Ile) | |
| 1 | g.94031853G>A | CA418825263 | ABCA4 | c.4053C>T (p.Val1351=) c.429C>T (p.Val143=) | |
| 1 | g.94031853G>C | CA418825265 | ABCA4 | c.4053C>G (p.Val1351=) c.429C>G (p.Val143=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94031853G= | CA1181415448 | ABCA4 | c.4053C= (p.Val1351=) c.429C= (p.Val143=) | |
| 1 | g.94031853G>T | CA418825264 | ABCA4 | c.4053C>A (p.Val1351=) c.429C>A (p.Val143=) | |
| 1 | g.94031854A>C | CA341287051 | ABCA4 | c.4052T>G (p.Val1351Gly) c.428T>G (p.Val143Gly) | |
| 1 | g.94031854A>G | CA341287053 | ABCA4 | c.4052T>C (p.Val1351Ala) c.428T>C (p.Val143Ala) | |
| 1 | g.94031854A>T | CA341287055 | ABCA4 | c.4052T>A (p.Val1351Asp) c.428T>A (p.Val143Asp) | |
| 1 | g.94031855C>A | CA341287058 | ABCA4 | c.4051G>T (p.Val1351Phe) c.427G>T (p.Val143Phe) | |
| 1 | g.94031855C>G | CA341287060 | ABCA4 | c.4051G>C (p.Val1351Leu) c.427G>C (p.Val143Leu) | |
| 1 | g.94031855C>T | CA341287062 | ABCA4 | c.4051G>A (p.Val1351Ile) c.427G>A (p.Val143Ile) | |
| 1 | g.94031856C>A | CA418825266 | ABCA4 | c.4050G>T (p.Leu1350=) c.426G>T (p.Leu142=) | |
| 1 | g.94031856C= | CA1141778446 | ABCA4 | c.4050G= (p.Leu1350=) c.426G= (p.Leu142=) | |
| 1 | g.94031856C>G | CA957737 | ABCA4 | c.4050G>C (p.Leu1350=) c.426G>C (p.Leu142=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031856C>T | CA418825267 | ABCA4 | c.4050G>A (p.Leu1350=) c.426G>A (p.Leu142=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031857A= | CA1181415449 | ABCA4 | c.4049T= (p.Leu1350=) c.425T= (p.Leu142=) | |
| 1 | g.94031857A>C | CA341287067 | ABCA4 | c.4049T>G (p.Leu1350Arg) c.425T>G (p.Leu142Arg) | |
| 1 | g.94031857A>G | CA16617204 | ABCA4 | c.4049T>C (p.Leu1350Pro) c.425T>C (p.Leu142Pro) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94031857A>T | CA341287065 | ABCA4 | c.4049T>A (p.Leu1350Gln) c.425T>A (p.Leu142Gln) | |
| 1 | g.94031858G>A | CA418825270 | ABCA4 | c.4048C>T (p.Leu1350=) c.424C>T (p.Leu142=) | ClinVar |
| 1 | g.94031858G>C | CA341287072 | ABCA4 | c.4048C>G (p.Leu1350Val) c.424C>G (p.Leu142Val) | |
| 1 | g.94031858G>T | CA341287073 | ABCA4 | c.4048C>A (p.Leu1350Met) c.424C>A (p.Leu142Met) | |
| 1 | g.94031859C>A | CA341287075 | ABCA4 | c.4047G>T (p.Gln1349His) c.423G>T (p.Gln141His) | |
| 1 | g.94031859C>G | CA341287077 | ABCA4 | c.4047G>C (p.Gln1349His) c.423G>C (p.Gln141His) | |
| 1 | g.94031859C>T | CA418825271 | ABCA4 | c.4047G>A (p.Gln1349=) c.423G>A (p.Gln141=) | |
| 1 | g.94031860T>A | CA341287079 | ABCA4 | c.4046A>T (p.Gln1349Leu) c.422A>T (p.Gln141Leu) | |
| 1 | g.94031860T>C | CA341287081 | ABCA4 | c.4046A>G (p.Gln1349Arg) c.422A>G (p.Gln141Arg) | |
| 1 | g.94031860T>G | CA341287083 | ABCA4 | c.4046A>C (p.Gln1349Pro) c.422A>C (p.Gln141Pro) | |
| 1 | g.94031861G>A | CA341287086 | ABCA4 | c.4045C>T (p.Gln1349Ter) c.421C>T (p.Gln141Ter) | |
| 1 | g.94031861G>C | CA341287088 | ABCA4 | c.4045C>G (p.Gln1349Glu) c.421C>G (p.Gln141Glu) | gnomAD v4 COSMIC |
| 1 | g.94031861G= | CA1181415450 | ABCA4 | c.4045C= (p.Gln1349=) c.421C= (p.Gln141=) | |
| 1 | g.94031861G>T | CA341287089 | ABCA4 | c.4045C>A (p.Gln1349Lys) c.421C>A (p.Gln141Lys) | |
| 1 | g.94031862T>A | CA418825273 | ABCA4 | c.4044A>T (p.Thr1348=) c.420A>T (p.Thr140=) | |
| 1 | g.94031862T>C | CA957738 | ABCA4 | c.4044A>G (p.Thr1348=) c.420A>G (p.Thr140=) | dbSNP ExAC gnomAD v2 |
| 1 | g.94031862T>G | CA418825274 | ABCA4 | c.4044A>C (p.Thr1348=) c.420A>C (p.Thr140=) | |
| 1 | g.94031862T= | CA1181415451 | ABCA4 | c.4044A= (p.Thr1348=) c.420A= (p.Thr140=) | |
| 1 | g.94031862dup | CA524384047 | ABCA4 | c.4044dup (p.Gln1349ThrfsTer?) c.420dup (p.Gln141ThrfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031863G>A | CA341287094 | ABCA4 | c.4043C>T (p.Thr1348Ile) c.419C>T (p.Thr140Ile) | dbSNP |
| 1 | g.94031863G>C | CA341287096 | ABCA4 | c.4043C>G (p.Thr1348Arg) c.419C>G (p.Thr140Arg) | |
| 1 | g.94031863G= | CA1181415452 | ABCA4 | c.4043C= (p.Thr1348=) c.419C= (p.Thr140=) | |
| 1 | g.94031863G>T | CA341287093 | ABCA4 | c.4043C>A (p.Thr1348Lys) c.419C>A (p.Thr140Lys) | |
| 1 | g.94031864del | CA2739292005 | ABCA4 | c.4042del (p.Thr1348HisfsTer?) c.418del (p.Thr140HisfsTer?) | |
| 1 | g.94031864T>A | CA341287100 | ABCA4 | c.4042A>T (p.Thr1348Ser) c.418A>T (p.Thr140Ser) | |
| 1 | g.94031864T>C | CA341287109 | ABCA4 | c.4042A>G (p.Thr1348Ala) c.418A>G (p.Thr140Ala) | gnomAD v4 |
| 1 | g.94031864T>G | CA341287111 | ABCA4 | c.4042A>C (p.Thr1348Pro) c.418A>C (p.Thr140Pro) | gnomAD v4 |
| 1 | g.94031865C>A | CA418825280 | ABCA4 | c.4041G>T (p.Gly1347=) c.417G>T (p.Gly139=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94031865C= | CA1181415453 | ABCA4 | c.4041G= (p.Gly1347=) c.417G= (p.Gly139=) | |
| 1 | g.94031865C>G | CA418825279 | ABCA4 | c.4041G>C (p.Gly1347=) c.417G>C (p.Gly139=) | ClinVar |
| 1 | g.94031865C>T | CA418825278 | ABCA4 | c.4041G>A (p.Gly1347=) c.417G>A (p.Gly139=) | gnomAD v4 |
| 1 | g.94031866C>A | CA341287113 | ABCA4 | c.4040G>T (p.Gly1347Val) c.416G>T (p.Gly139Val) | |
| 1 | g.94031866C>G | CA341287115 | ABCA4 | c.4040G>C (p.Gly1347Ala) c.416G>C (p.Gly139Ala) | |
| 1 | g.94031866C>T | CA341287117 | ABCA4 | c.4040G>A (p.Gly1347Glu) c.416G>A (p.Gly139Glu) | ClinVar |
| 1 | g.94031867C>A | CA341287119 | ABCA4 | c.4039G>T (p.Gly1347Trp) c.415G>T (p.Gly139Trp) | |
| 1 | g.94031867C= | CA1181415454 | ABCA4 | c.4039G= (p.Gly1347=) c.415G= (p.Gly139=) | |
| 1 | g.94031867C>G | CA341287122 | ABCA4 | c.4039G>C (p.Gly1347Arg) c.415G>C (p.Gly139Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94031867C>T | CA341287120 | ABCA4 | c.4039G>A (p.Gly1347Arg) c.415G>A (p.Gly139Arg) | dbSNP |
| 1 | g.94031868C>A | CA418825287 | ABCA4 | c.4038G>T (p.Thr1346=) c.414G>T (p.Thr138=) | |
| 1 | g.94031868C= | CA1141865808 | ABCA4 | c.4038G= (p.Thr1346=) c.414G= (p.Thr138=) | |
| 1 | g.94031868C>G | CA418825288 | ABCA4 | c.4038G>C (p.Thr1346=) c.414G>C (p.Thr138=) | gnomAD v4 |
| 1 | g.94031868C>T | CA957739 | ABCA4 | c.4038G>A (p.Thr1346=) c.414G>A (p.Thr138=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031868_94031870delinsCGT | CA1181415455 | ABCA4 | c.4036_4038delinsACG (p.Thr1346=) c.412_414delinsACG (p.Thr138=) | |
| 1 | g.94031869G>A | CA957740 | ABCA4 | c.4037C>T (p.Thr1346Met) c.413C>T (p.Thr138Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031869G>C | CA341287126 | ABCA4 | c.4037C>G (p.Thr1346Arg) c.413C>G (p.Thr138Arg) | gnomAD v4 |
| 1 | g.94031869G= | CA1181415456 | ABCA4 | c.4037C= (p.Thr1346=) c.413C= (p.Thr138=) | |
| 1 | g.94031869G>T | CA341287128 | ABCA4 | c.4037C>A (p.Thr1346Lys) c.413C>A (p.Thr138Lys) | |
| 1 | g.94031869_94031872delinsGTGT | CA1140726184 | ABCA4 | c.4034_4037delinsACAC (p.Asn1345=) c.410_413delinsACAC (p.Asn137=) | |
| 1 | g.94031871_94031872dup | CA227154 | ABCA4 | c.4036_4037dup (p.Gly1347ArgfsTer?) c.412_413dup (p.Gly139ArgfsTer?) | ClinVar dbSNP |
| 1 | g.94031871_94031872del | CA645372196 | ABCA4 | c.4036_4037del (p.Thr1346GlyfsTer?) c.412_413del (p.Thr138GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94031870T>A | CA341287133 | ABCA4 | c.4036A>T (p.Thr1346Ser) c.412A>T (p.Thr138Ser) | |
| 1 | g.94031870T>C | CA341287131 | ABCA4 | c.4036A>G (p.Thr1346Ala) c.412A>G (p.Thr138Ala) | |
| 1 | g.94031870T>G | CA341287134 | ABCA4 | c.4036A>C (p.Thr1346Pro) c.412A>C (p.Thr138Pro) | |
| 1 | g.94031871G>A | CA418825293 | ABCA4 | c.4035C>T (p.Asn1345=) c.411C>T (p.Asn137=) | gnomAD v4 |
| 1 | g.94031871G>C | CA341287138 | ABCA4 | c.4035C>G (p.Asn1345Lys) c.411C>G (p.Asn137Lys) | |
| 1 | g.94031871G= | CA1181415457 | ABCA4 | c.4035C= (p.Asn1345=) c.411C= (p.Asn137=) | |
| 1 | g.94031871G>T | CA341287136 | ABCA4 | c.4035C>A (p.Asn1345Lys) c.411C>A (p.Asn137Lys) | |
| 1 | g.94031872T>A | CA341287140 | ABCA4 | c.4034A>T (p.Asn1345Ile) c.410A>T (p.Asn137Ile) | |
| 1 | g.94031872T>C | CA341287142 | ABCA4 | c.4034A>G (p.Asn1345Ser) c.410A>G (p.Asn137Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031872T>G | CA341287144 | ABCA4 | c.4034A>C (p.Asn1345Thr) c.410A>C (p.Asn137Thr) | |
| 1 | g.94031872T= | CA1181415458 | ABCA4 | c.4034A= (p.Asn1345=) c.410A= (p.Asn137=) | |
| 1 | g.94031872_94031873dup | CA957741 | ABCA4 | c.4033_4034dup (p.Asn1345LysfsTer?) c.409_410dup (p.Asn137LysfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94031873T>A | CA341287388 | ABCA4 | c.4033A>T (p.Asn1345Tyr) c.409A>T (p.Asn137Tyr) | |
| 1 | g.94031873T>C | CA341287389 | ABCA4 | c.4033A>G (p.Asn1345Asp) c.409A>G (p.Asn137Asp) | |
| 1 | g.94031873T>G | CA341287391 | ABCA4 | c.4033A>C (p.Asn1345His) c.409A>C (p.Asn137His) | |
| 1 | g.94031873_94031874dup | CA2586966903 | ABCA4 | c.4032_4033dup (p.Asn1345ThrfsTer?) c.408_409dup (p.Asn137ThrfsTer?) | |
| 1 | g.94031874G>A | CA418825370 | ABCA4 | c.4032C>T (p.Leu1344=) c.408C>T (p.Leu136=) | |
| 1 | g.94031874G>C | CA418825371 | ABCA4 | c.4032C>G (p.Leu1344=) c.408C>G (p.Leu136=) | |
| 1 | g.94031874G>T | CA418825369 | ABCA4 | c.4032C>A (p.Leu1344=) c.408C>A (p.Leu136=) | |
| 1 | g.94031875A>C | CA341287393 | ABCA4 | c.4031T>G (p.Leu1344Arg) c.407T>G (p.Leu136Arg) | |
| 1 | g.94031875A>G | CA341287394 | ABCA4 | c.4031T>C (p.Leu1344Pro) c.407T>C (p.Leu136Pro) | |
| 1 | g.94031875A>T | CA341287395 | ABCA4 | c.4031T>A (p.Leu1344His) c.407T>A (p.Leu136His) | |
| 1 | g.94031876G>A | CA341287399 | ABCA4 | c.4030C>T (p.Leu1344Phe) c.406C>T (p.Leu136Phe) | gnomAD v4 |
| 1 | g.94031876G>C | CA957742 | ABCA4 | c.4030C>G (p.Leu1344Val) c.406C>G (p.Leu136Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031876G= | CA1149129707 | ABCA4 | c.4030C= (p.Leu1344=) c.406C= (p.Leu136=) | |
| 1 | g.94031876G>T | CA341287397 | ABCA4 | c.4030C>A (p.Leu1344Ile) c.406C>A (p.Leu136Ile) | |
| 1 | g.94031877C>A | CA341287401 | ABCA4 | c.4029G>T (p.Gln1343His) c.405G>T (p.Gln135His) | |
| 1 | g.94031877C= | CA1181415459 | ABCA4 | c.4029G= (p.Gln1343=) c.405G= (p.Gln135=) | |
| 1 | g.94031877C>G | CA341287402 | ABCA4 | c.4029G>C (p.Gln1343His) c.405G>C (p.Gln135His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031877C>T | CA418825372 | ABCA4 | c.4029G>A (p.Gln1343=) c.405G>A (p.Gln135=) | |
| 1 | g.94031878T>A | CA341287404 | ABCA4 | c.4028A>T (p.Gln1343Leu) c.404A>T (p.Gln135Leu) | |
| 1 | g.94031878T>C | CA341287405 | ABCA4 | c.4028A>G (p.Gln1343Arg) c.404A>G (p.Gln135Arg) | |
| 1 | g.94031878T>G | CA341287407 | ABCA4 | c.4028A>C (p.Gln1343Pro) c.404A>C (p.Gln135Pro) | |
| 1 | g.94031879G>A | CA341287408 | ABCA4 | c.4027C>T (p.Gln1343Ter) c.403C>T (p.Gln135Ter) | |
| 1 | g.94031879G>C | CA341287410 | ABCA4 | c.4027C>G (p.Gln1343Glu) c.403C>G (p.Gln135Glu) | |
| 1 | g.94031879G>T | CA341287411 | ABCA4 | c.4027C>A (p.Gln1343Lys) c.403C>A (p.Gln135Lys) | |
| 1 | g.94031880C>A | CA418825373 | ABCA4 | c.4026G>T (p.Pro1342=) c.402G>T (p.Pro134=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94031880C= | CA1181415460 | ABCA4 | c.4026G= (p.Pro1342=) c.402G= (p.Pro134=) | |
| 1 | g.94031880C>G | CA418825374 | ABCA4 | c.4026G>C (p.Pro1342=) c.402G>C (p.Pro134=) | |
| 1 | g.94031880C>T | CA957743 | ABCA4 | c.4026G>A (p.Pro1342=) c.402G>A (p.Pro134=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031881G>A | CA26855410 | ABCA4 | c.4025C>T (p.Pro1342Leu) c.401C>T (p.Pro134Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.94031881G>C | CA341287414 | ABCA4 | c.4025C>G (p.Pro1342Arg) c.401C>G (p.Pro134Arg) | gnomAD v4 |
| 1 | g.94031881G= | CA1181415461 | ABCA4 | c.4025C= (p.Pro1342=) c.401C= (p.Pro134=) | |
| 1 | g.94031881G>T | CA341287415 | ABCA4 | c.4025C>A (p.Pro1342Gln) c.401C>A (p.Pro134Gln) |