UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94021849G>A | CA418821873 | ABCA4 | c.4770C>T (p.Ser1590=) n.264C>T c.1146C>T (p.Ser382=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021849G>C | CA341283769 | ABCA4 | c.4770C>G (p.Ser1590Arg) n.264C>G c.1146C>G (p.Ser382Arg) | gnomAD v4 |
| 1 | g.94021849G= | CA1181408858 | ABCA4 | c.4770C= (p.Ser1590=) n.264C= c.1146C= (p.Ser382=) | |
| 1 | g.94021849G>T | CA341283768 | ABCA4 | c.4770C>A (p.Ser1590Arg) n.264C>A c.1146C>A (p.Ser382Arg) | |
| 1 | g.94021850C>A | CA341283771 | ABCA4 | c.4769G>T (p.Ser1590Ile) n.263G>T c.1145G>T (p.Ser382Ile) | |
| 1 | g.94021850C= | CA1147388611 | ABCA4 | c.4769G= (p.Ser1590=) n.263G= c.1145G= (p.Ser382=) | |
| 1 | g.94021850C>G | CA341283773 | ABCA4 | c.4769G>C (p.Ser1590Thr) n.263G>C c.1145G>C (p.Ser382Thr) | |
| 1 | g.94021850C>T | CA26845221 | ABCA4 | c.4769G>A (p.Ser1590Asn) n.263G>A c.1145G>A (p.Ser382Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94021851T>A | CA341283774 | ABCA4 | c.4768A>T (p.Ser1590Cys) n.262A>T c.1144A>T (p.Ser382Cys) | |
| 1 | g.94021851T>C | CA341283776 | ABCA4 | c.4768A>G (p.Ser1590Gly) n.262A>G c.1144A>G (p.Ser382Gly) | |
| 1 | g.94021851T>G | CA341283777 | ABCA4 | c.4768A>C (p.Ser1590Arg) n.262A>C c.1144A>C (p.Ser382Arg) | |
| 1 | g.94021852C>A | CA418821874 | ABCA4 | c.4767G>T (p.Val1589=) n.261G>T c.1143G>T (p.Val381=) | |
| 1 | g.94021852C= | CA1181408862 | ABCA4 | c.4767G= (p.Val1589=) n.261G= c.1143G= (p.Val381=) | |
| 1 | g.94021852C>G | CA418821876 | ABCA4 | c.4767G>C (p.Val1589=) n.261G>C c.1143G>C (p.Val381=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.94021852C>T | CA418821878 | ABCA4 | c.4767G>A (p.Val1589=) n.261G>A c.1143G>A (p.Val381=) | |
| 1 | g.94021853A>C | CA341283778 | ABCA4 | c.4766T>G (p.Val1589Gly) n.260T>G c.1142T>G (p.Val381Gly) | |
| 1 | g.94021853A>G | CA341283779 | ABCA4 | c.4766T>C (p.Val1589Ala) n.260T>C c.1142T>C (p.Val381Ala) | |
| 1 | g.94021853A>T | CA341283780 | ABCA4 | c.4766T>A (p.Val1589Glu) n.260T>A c.1142T>A (p.Val381Glu) | |
| 1 | g.94021854C>A | CA341283782 | ABCA4 | c.4765G>T (p.Val1589Leu) n.259G>T c.1141G>T (p.Val381Leu) | |
| 1 | g.94021854C= | CA1181408868 | ABCA4 | c.4765G= (p.Val1589=) n.259G= c.1141G= (p.Val381=) | |
| 1 | g.94021854C>G | CA341283784 | ABCA4 | c.4765G>C (p.Val1589Leu) n.259G>C c.1141G>C (p.Val381Leu) | |
| 1 | g.94021854C>T | CA957489 | ABCA4 | c.4765G>A (p.Val1589Met) n.259G>A c.1141G>A (p.Val381Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021855A= | CA1181408874 | ABCA4 | c.4764T= (p.Asn1588=) n.258T= c.1140T= (p.Asn380=) | |
| 1 | g.94021855A>C | CA341283787 | ABCA4 | c.4764T>G (p.Asn1588Lys) n.258T>G c.1140T>G (p.Asn380Lys) | ClinVar |
| 1 | g.94021855A>G | CA418821879 | ABCA4 | c.4764T>C (p.Asn1588=) n.258T>C c.1140T>C (p.Asn380=) | ClinVar |
| 1 | g.94021855A>T | CA341283786 | ABCA4 | c.4764T>A (p.Asn1588Lys) n.258T>A c.1140T>A (p.Asn380Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94021856T>A | CA341283789 | ABCA4 | c.4763A>T (p.Asn1588Ile) n.257A>T c.1139A>T (p.Asn380Ile) | |
| 1 | g.94021856T>C | CA341283791 | ABCA4 | c.4763A>G (p.Asn1588Ser) n.257A>G c.1139A>G (p.Asn380Ser) | |
| 1 | g.94021856T>G | CA341283790 | ABCA4 | c.4763A>C (p.Asn1588Thr) n.257A>C c.1139A>C (p.Asn380Thr) | |
| 1 | g.94021857T>A | CA341283793 | ABCA4 | c.4762A>T (p.Asn1588Tyr) n.256A>T c.1138A>T (p.Asn380Tyr) | ClinVar dbSNP |
| 1 | g.94021857T>C | CA341283794 | ABCA4 | c.4762A>G (p.Asn1588Asp) n.256A>G c.1138A>G (p.Asn380Asp) | |
| 1 | g.94021857T>G | CA341283795 | ABCA4 | c.4762A>C (p.Asn1588His) n.256A>C c.1138A>C (p.Asn380His) | |
| 1 | g.94021857T= | CA1181408876 | ABCA4 | c.4762A= (p.Asn1588=) n.256A= c.1138A= (p.Asn380=) | |
| 1 | g.94021858C>A | CA341283797 | ABCA4 | c.4761G>T (p.Met1587Ile) n.255G>T c.1137G>T (p.Met379Ile) | |
| 1 | g.94021858C>G | CA341283799 | ABCA4 | c.4761G>C (p.Met1587Ile) n.255G>C c.1137G>C (p.Met379Ile) | |
| 1 | g.94021858C>T | CA341283800 | ABCA4 | c.4761G>A (p.Met1587Ile) n.255G>A c.1137G>A (p.Met379Ile) | |
| 1 | g.94021859A= | CA1144027181 | ABCA4 | c.4760T= (p.Met1587=) n.254T= c.1136T= (p.Met379=) | |
| 1 | g.94021859A>C | CA341283802 | ABCA4 | c.4760T>G (p.Met1587Arg) n.254T>G c.1136T>G (p.Met379Arg) | |
| 1 | g.94021859A>G | CA957490 | ABCA4 | c.4760T>C (p.Met1587Thr) n.254T>C c.1136T>C (p.Met379Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021859A>T | CA341283803 | ABCA4 | c.4760T>A (p.Met1587Lys) n.254T>A c.1136T>A (p.Met379Lys) | |
| 1 | g.94021860T>A | CA341283806 | ABCA4 | c.4759A>T (p.Met1587Leu) n.253A>T c.1135A>T (p.Met379Leu) | |
| 1 | g.94021860T>C | CA341283807 | ABCA4 | c.4759A>G (p.Met1587Val) n.253A>G c.1135A>G (p.Met379Val) | gnomAD v4 |
| 1 | g.94021860T>G | CA341283809 | ABCA4 | c.4759A>C (p.Met1587Leu) n.253A>C c.1135A>C (p.Met379Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021860T= | CA1181408881 | ABCA4 | c.4759A= (p.Met1587=) n.253A= c.1135A= (p.Met379=) | |
| 1 | g.94021861G>A | CA957491 | ABCA4 | c.4758C>T (p.Ile1586=) n.252C>T c.1134C>T (p.Ile378=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021861G>C | CA341283811 | ABCA4 | c.4758C>G (p.Ile1586Met) n.252C>G c.1134C>G (p.Ile378Met) | gnomAD v4 |
| 1 | g.94021861G= | CA1143878963 | ABCA4 | c.4758C= (p.Ile1586=) n.252C= c.1134C= (p.Ile378=) | |
| 1 | g.94021861G>T | CA418821881 | ABCA4 | c.4758C>A (p.Ile1586=) n.252C>A c.1134C>A (p.Ile378=) | |
| 1 | g.94021862A= | CA1181408888 | ABCA4 | c.4757T= (p.Ile1586=) n.251T= c.1133T= (p.Ile378=) | |
| 1 | g.94021862A>C | CA341283812 | ABCA4 | c.4757T>G (p.Ile1586Ser) n.251T>G c.1133T>G (p.Ile378Ser) | |
| 1 | g.94021862A>G | CA957492 | ABCA4 | c.4757T>C (p.Ile1586Thr) n.251T>C c.1133T>C (p.Ile378Thr) | dbSNP ExAC gnomAD v2 |
| 1 | g.94021862A>T | CA341283815 | ABCA4 | c.4757T>A (p.Ile1586Asn) n.251T>A c.1133T>A (p.Ile378Asn) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94021863T>A | CA341283816 | ABCA4 | c.4756A>T (p.Ile1586Phe) n.250A>T c.1132A>T (p.Ile378Phe) | |
| 1 | g.94021863T>C | CA341283818 | ABCA4 | c.4756A>G (p.Ile1586Val) n.250A>G c.1132A>G (p.Ile378Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021863T>G | CA341283819 | ABCA4 | c.4756A>C (p.Ile1586Leu) n.250A>C c.1132A>C (p.Ile378Leu) | |
| 1 | g.94021863T= | CA1181408890 | ABCA4 | c.4756A= (p.Ile1586=) n.250A= c.1132A= (p.Ile378=) | |
| 1 | g.94021864C>A | CA418821885 | ABCA4 | c.4755G>T (p.Arg1585=) n.249G>T c.1131G>T (p.Arg377=) | |
| 1 | g.94021864C>G | CA418821886 | ABCA4 | c.4755G>C (p.Arg1585=) n.249G>C c.1131G>C (p.Arg377=) | |
| 1 | g.94021864C>T | CA418821887 | ABCA4 | c.4755G>A (p.Arg1585=) n.249G>A c.1131G>A (p.Arg377=) | |
| 1 | g.94021865C>A | CA341283821 | ABCA4 | c.4754G>T (p.Arg1585Leu) n.248G>T c.1130G>T (p.Arg377Leu) | |
| 1 | g.94021865C= | CA1181408897 | ABCA4 | c.4754G= (p.Arg1585=) n.248G= c.1130G= (p.Arg377=) | |
| 1 | g.94021865C>G | CA341283823 | ABCA4 | c.4754G>C (p.Arg1585Pro) n.248G>C c.1130G>C (p.Arg377Pro) | |
| 1 | g.94021865C>T | CA244215 | ABCA4 | c.4754G>A (p.Arg1585Gln) n.248G>A c.1130G>A (p.Arg377Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.94021866G>A | CA16603705 | ABCA4 | c.4753C>T (p.Arg1585Trp) n.247C>T c.1129C>T (p.Arg377Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.94021866G>C | CA341283825 | ABCA4 | c.4753C>G (p.Arg1585Gly) n.247C>G c.1129C>G (p.Arg377Gly) | dbSNP |
| 1 | g.94021866G= | CA1148240428 | ABCA4 | c.4753C= (p.Arg1585=) n.247C= c.1129C= (p.Arg377=) | |
| 1 | g.94021866G>T | CA418821888 | ABCA4 | c.4753C>A (p.Arg1585=) n.247C>A c.1129C>A (p.Arg377=) | |
| 1 | g.94021867G>A | CA418821890 | ABCA4 | c.4752C>T (p.Gly1584=) n.246C>T c.1128C>T (p.Gly376=) | dbSNP |
| 1 | g.94021867G>C | CA418821891 | ABCA4 | c.4752C>G (p.Gly1584=) n.246C>G c.1128C>G (p.Gly376=) | |
| 1 | g.94021867G= | CA1181408904 | ABCA4 | c.4752C= (p.Gly1584=) n.246C= c.1128C= (p.Gly376=) | |
| 1 | g.94021867G>T | CA418821893 | ABCA4 | c.4752C>A (p.Gly1584=) n.246C>A c.1128C>A (p.Gly376=) | |
| 1 | g.94021868C>A | CA341283828 | ABCA4 | c.4751G>T (p.Gly1584Val) n.245G>T c.1127G>T (p.Gly376Val) | |
| 1 | g.94021868C>G | CA341283830 | ABCA4 | c.4751G>C (p.Gly1584Ala) n.245G>C c.1127G>C (p.Gly376Ala) | |
| 1 | g.94021868C>T | CA341283827 | ABCA4 | c.4751G>A (p.Gly1584Asp) n.245G>A c.1127G>A (p.Gly376Asp) | |
| 1 | g.94021869C>A | CA341283831 | ABCA4 | c.4750G>T (p.Gly1584Cys) n.244G>T c.1126G>T (p.Gly376Cys) | |
| 1 | g.94021869C= | CA1181408906 | ABCA4 | c.4750G= (p.Gly1584=) n.244G= c.1126G= (p.Gly376=) | |
| 1 | g.94021869C>G | CA341283832 | ABCA4 | c.4750G>C (p.Gly1584Arg) n.244G>C c.1126G>C (p.Gly376Arg) | |
| 1 | g.94021869C>T | CA341283833 | ABCA4 | c.4750G>A (p.Gly1584Ser) n.244G>A c.1126G>A (p.Gly376Ser) | dbSNP |
| 1 | g.94021870A= | CA1181408909 | ABCA4 | c.4749T= (p.Leu1583=) n.243T= c.1125T= (p.Leu375=) | |
| 1 | g.94021870A>C | CA418821895 | ABCA4 | c.4749T>G (p.Leu1583=) n.243T>G c.1125T>G (p.Leu375=) | |
| 1 | g.94021870A>G | CA957493 | ABCA4 | c.4749T>C (p.Leu1583=) n.243T>C c.1125T>C (p.Leu375=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021870A>T | CA10610453 | ABCA4 | c.4749T>A (p.Leu1583=) n.243T>A c.1125T>A (p.Leu375=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94021871A= | CA1140725998 | ABCA4 | c.4748T= (p.Leu1583=) n.242T= c.1124T= (p.Leu375=) | |
| 1 | g.94021871A>C | CA341283838 | ABCA4 | c.4748T>G (p.Leu1583Arg) n.242T>G c.1124T>G (p.Leu375Arg) | |
| 1 | g.94021871A>G | CA227233 | ABCA4 | c.4748T>C (p.Leu1583Pro) n.242T>C c.1124T>C (p.Leu375Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021871A>T | CA341283836 | ABCA4 | c.4748T>A (p.Leu1583His) n.242T>A c.1124T>A (p.Leu375His) | |
| 1 | g.94021872G>A | CA341283840 | ABCA4 | c.4747C>T (p.Leu1583Phe) n.241C>T c.1123C>T (p.Leu375Phe) | |
| 1 | g.94021872G>C | CA341283841 | ABCA4 | c.4747C>G (p.Leu1583Val) n.241C>G c.1123C>G (p.Leu375Val) | |
| 1 | g.94021872G= | CA1181408920 | ABCA4 | c.4747C= (p.Leu1583=) n.241C= c.1123C= (p.Leu375=) | |
| 1 | g.94021872G>T | CA26845237 | ABCA4 | c.4747C>A (p.Leu1583Ile) n.241C>A c.1123C>A (p.Leu375Ile) | ClinVar dbSNP |
| 1 | g.94021873G>A | CA227231 | ABCA4 | c.4746C>T (p.Asp1582=) n.240C>T c.1122C>T (p.Asp374=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021873G>C | CA341283843 | ABCA4 | c.4746C>G (p.Asp1582Glu) n.240C>G c.1122C>G (p.Asp374Glu) | |
| 1 | g.94021873G= | CA1140726002 | ABCA4 | c.4746C= (p.Asp1582=) n.240C= c.1122C= (p.Asp374=) | |
| 1 | g.94021873G>T | CA341283845 | ABCA4 | c.4746C>A (p.Asp1582Glu) n.240C>A c.1122C>A (p.Asp374Glu) | gnomAD v4 |
| 1 | g.94021874T>A | CA341283847 | ABCA4 | c.4745A>T (p.Asp1582Val) n.239A>T c.1121A>T (p.Asp374Val) | |
| 1 | g.94021874T>C | CA341283850 | ABCA4 | c.4745A>G (p.Asp1582Gly) n.239A>G c.1121A>G (p.Asp374Gly) | gnomAD v4 |
| 1 | g.94021874T>G | CA341283849 | ABCA4 | c.4745A>C (p.Asp1582Ala) n.239A>C c.1121A>C (p.Asp374Ala) | |
| 1 | g.94021875C>A | CA341283852 | ABCA4 | c.4744G>T (p.Asp1582Tyr) n.238G>T c.1120G>T (p.Asp374Tyr) | dbSNP gnomAD v4 |
| 1 | g.94021875C= | CA1181408922 | ABCA4 | c.4744G= (p.Asp1582=) n.238G= c.1120G= (p.Asp374=) | |
| 1 | g.94021875C>G | CA341283854 | ABCA4 | c.4744G>C (p.Asp1582His) n.238G>C c.1120G>C (p.Asp374His) | |
| 1 | g.94021875C>T | CA341283855 | ABCA4 | c.4744G>A (p.Asp1582Asn) n.238G>A c.1120G>A (p.Asp374Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94021876G>A | CA26845251 | ABCA4 | c.4743C>T (p.Ser1581=) n.237C>T c.1119C>T (p.Ser373=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021876G>C | CA341283857 | ABCA4 | c.4743C>G (p.Ser1581Arg) n.237C>G c.1119C>G (p.Ser373Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021876G= | CA1145139282 | ABCA4 | c.4743C= (p.Ser1581=) n.237C= c.1119C= (p.Ser373=) | |
| 1 | g.94021876G>T | CA341283859 | ABCA4 | c.4743C>A (p.Ser1581Arg) n.237C>A c.1119C>A (p.Ser373Arg) | dbSNP gnomAD v4 |
| 1 | g.94021877C>A | CA341283861 | ABCA4 | c.4742G>T (p.Ser1581Ile) n.236G>T c.1118G>T (p.Ser373Ile) | |
| 1 | g.94021877C= | CA1181408925 | ABCA4 | c.4742G= (p.Ser1581=) n.236G= c.1118G= (p.Ser373=) | |
| 1 | g.94021877C>G | CA341283862 | ABCA4 | c.4742G>C (p.Ser1581Thr) n.236G>C c.1118G>C (p.Ser373Thr) | |
| 1 | g.94021877C>T | CA957494 | ABCA4 | c.4742G>A (p.Ser1581Asn) n.236G>A c.1118G>A (p.Ser373Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021878T>A | CA341283863 | ABCA4 | c.4741A>T (p.Ser1581Cys) n.235A>T c.1117A>T (p.Ser373Cys) | |
| 1 | g.94021878T>C | CA341283865 | ABCA4 | c.4741A>G (p.Ser1581Gly) n.235A>G c.1117A>G (p.Ser373Gly) | |
| 1 | g.94021878T>G | CA341283866 | ABCA4 | c.4741A>C (p.Ser1581Arg) n.235A>C c.1117A>C (p.Ser373Arg) | |
| 1 | g.94021879T>A | CA341283868 | ABCA4 | c.4740A>T (p.Leu1580Phe) n.234A>T c.1116A>T (p.Leu372Phe) | |
| 1 | g.94021879T>C | CA26845257 | ABCA4 | c.4740A>G (p.Leu1580=) n.234A>G c.1116A>G (p.Leu372=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021879T>G | CA341283870 | ABCA4 | c.4740A>C (p.Leu1580Phe) n.234A>C c.1116A>C (p.Leu372Phe) | |
| 1 | g.94021879T= | CA1181408926 | ABCA4 | c.4740A= (p.Leu1580=) n.234A= c.1116A= (p.Leu372=) | |
| 1 | g.94021879_94021885delinsTAAAAAC | CA1181408928 | ABCA4 | c.4734_4740delinsGTTTTTA (p.Gly1578=) n.228_234delinsGTTTTTA c.1110_1116delinsGTTTTTA (p.Gly370=) | |
| 1 | g.94021880A= | CA1181408934 | ABCA4 | c.4739T= (p.Leu1580=) n.233T= c.1115T= (p.Leu372=) | |
| 1 | g.94021880A>C | CA341283871 | ABCA4 | c.4739T>G (p.Leu1580Ter) n.233T>G c.1115T>G (p.Leu372Ter) | |
| 1 | g.94021880A>G | CA957495 | ABCA4 | c.4739T>C (p.Leu1580Ser) n.233T>C c.1115T>C (p.Leu372Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021880A>T | CA341283872 | ABCA4 | c.4739T>A (p.Leu1580Ter) n.233T>A c.1115T>A (p.Leu372Ter) | COSMIC |
| 1 | g.94021880_94021884delinsGG | CA645372230 | ABCA4 | c.4735_4739delinsCC (p.Phe1579_Leu1580delinsPro) n.229_233delinsCC c.1111_1115delinsCC (p.Phe371_Leu372delinsPro) | |
| 1 | g.94021883_94021884dup | CA2574437910 | ABCA4 | c.4738_4739dup (p.Leu1580PhefsTer2) n.232_233dup c.1114_1115dup (p.Leu372PhefsTer2) | |
| 1 | g.94021884del | CA645372232 | ABCA4 | c.4739del (p.Leu1580Ter) n.233del c.1115del (p.Leu372Ter) | |
| 1 | g.94021883_94021884del | CA645372231 | ABCA4 | c.4738_4739del (p.Leu1580LysfsTer16) n.232_233del c.1114_1115del (p.Leu372LysfsTer16) | |
| 1 | g.94021881_94021884del | CA2573132692 | ABCA4 | c.4736_4739del (p.Phe1579Ter) n.230_233del c.1112_1115del (p.Phe371Ter) | dbSNP |
| 1 | g.94021880_94021885del | CA915941331 | ABCA4 | c.4734_4739del (p.Phe1579_Leu1580del) n.228_233del c.1110_1115del (p.Phe371_Leu372del) | ClinVar dbSNP |
| 1 | g.94021880_94021885delinsGG | CA2499214885 | ABCA4 | c.4734_4739delinsCC (p.Phe1579GlnfsTer8) n.228_233delinsCC c.1110_1115delinsCC (p.Phe371GlnfsTer8) | ClinVar dbSNP |
| 1 | g.94021881A>C | CA341283874 | ABCA4 | c.4738T>G (p.Leu1580Val) n.232T>G c.1114T>G (p.Leu372Val) | |
| 1 | g.94021881A>G | CA418821901 | ABCA4 | c.4738T>C (p.Leu1580=) n.232T>C c.1114T>C (p.Leu372=) | |
| 1 | g.94021881A>T | CA341283876 | ABCA4 | c.4738T>A (p.Leu1580Ile) n.232T>A c.1114T>A (p.Leu372Ile) | |
| 1 | g.94021882A= | CA1181408941 | ABCA4 | c.4737T= (p.Phe1579=) n.231T= c.1113T= (p.Phe371=) | |
| 1 | g.94021882A>C | CA341283878 | ABCA4 | c.4737T>G (p.Phe1579Leu) n.231T>G c.1113T>G (p.Phe371Leu) | |
| 1 | g.94021882A>G | CA418821903 | ABCA4 | c.4737T>C (p.Phe1579=) n.231T>C c.1113T>C (p.Phe371=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021882A>T | CA341283879 | ABCA4 | c.4737T>A (p.Phe1579Leu) n.231T>A c.1113T>A (p.Phe371Leu) | |
| 1 | g.94021882_94021885del | CA645372207 | ABCA4 | c.4734_4737del (p.Phe1579Ter) n.228_231del c.1110_1113del (p.Phe371Ter) | |
| 1 | g.94021883A>C | CA341283881 | ABCA4 | c.4736T>G (p.Phe1579Cys) n.230T>G c.1112T>G (p.Phe371Cys) | |
| 1 | g.94021883A>G | CA341283882 | ABCA4 | c.4736T>C (p.Phe1579Ser) n.230T>C c.1112T>C (p.Phe371Ser) | |
| 1 | g.94021883A>T | CA341283883 | ABCA4 | c.4736T>A (p.Phe1579Tyr) n.230T>A c.1112T>A (p.Phe371Tyr) | |
| 1 | g.94021884A>C | CA341283884 | ABCA4 | c.4735T>G (p.Phe1579Val) n.229T>G c.1111T>G (p.Phe371Val) | gnomAD v4 |
| 1 | g.94021884A>G | CA341283886 | ABCA4 | c.4735T>C (p.Phe1579Leu) n.229T>C c.1111T>C (p.Phe371Leu) | |
| 1 | g.94021884A>T | CA341283887 | ABCA4 | c.4735T>A (p.Phe1579Ile) n.229T>A c.1111T>A (p.Phe371Ile) | |
| 1 | g.94021885C>A | CA418821905 | ABCA4 | c.4734G>T (p.Gly1578=) n.228G>T c.1110G>T (p.Gly370=) | |
| 1 | g.94021885C>G | CA418821906 | ABCA4 | c.4734G>C (p.Gly1578=) n.228G>C c.1110G>C (p.Gly370=) | |
| 1 | g.94021885C>T | CA418821907 | ABCA4 | c.4734G>A (p.Gly1578=) n.228G>A c.1110G>A (p.Gly370=) | |
| 1 | g.94021887del | CA645372229 | ABCA4 | c.4734del (p.Leu1580Ter) n.228del c.1110del (p.Leu372Ter) | gnomAD v4 |
| 1 | g.94021886C>A | CA341283891 | ABCA4 | c.4733G>T (p.Gly1578Val) n.227G>T c.1109G>T (p.Gly370Val) | |
| 1 | g.94021886C>G | CA341283892 | ABCA4 | c.4733G>C (p.Gly1578Ala) n.227G>C c.1109G>C (p.Gly370Ala) | |
| 1 | g.94021886C>T | CA341283893 | ABCA4 | c.4733G>A (p.Gly1578Glu) n.227G>A c.1109G>A (p.Gly370Glu) | COSMIC |
| 1 | g.94021886_94021888delinsCCA | CA1181408944 | ABCA4 | c.4731_4733delinsTGG (p.Val1577=) n.225_227delinsTGG c.1107_1109delinsTGG (p.Val369=) | |
| 1 | g.94021886_94021889delinsCCAA | CA1181408945 | ABCA4 | c.4730_4733delinsTTGG (p.Val1577=) n.224_227delinsTTGG c.1106_1109delinsTTGG (p.Val369=) | |
| 1 | g.94021887C>A | CA341283898 | ABCA4 | c.4732G>T (p.Gly1578Trp) n.226G>T c.1108G>T (p.Gly370Trp) | |
| 1 | g.94021887C= | CA1139894809 | ABCA4 | c.4732G= (p.Gly1578=) n.226G= c.1108G= (p.Gly370=) | |
| 1 | g.94021887C>G | CA341283897 | ABCA4 | c.4732G>C (p.Gly1578Arg) n.226G>C c.1108G>C (p.Gly370Arg) | |
| 1 | g.94021887C>T | CA227230 | ABCA4 | c.4732G>A (p.Gly1578Arg) n.226G>A c.1108G>A (p.Gly370Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021887_94021888del | CA524697415 | ABCA4 | c.4731_4732del (p.Gly1578ValfsTer18) n.225_226del c.1107_1108del (p.Gly370ValfsTer18) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021890_94021892del | CA26845264 | ABCA4 | c.4730_4732del (p.Val1577del) n.224_226del c.1106_1108del (p.Val369del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021888A>C | CA418821913 | ABCA4 | c.4731T>G (p.Val1577=) n.225T>G c.1107T>G (p.Val369=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94021888A>G | CA418821911 | ABCA4 | c.4731T>C (p.Val1577=) n.225T>C c.1107T>C (p.Val369=) | ClinVar gnomAD v4 |
| 1 | g.94021888A>T | CA418821912 | ABCA4 | c.4731T>A (p.Val1577=) n.225T>A c.1107T>A (p.Val369=) | |
| 1 | g.94021889A= | CA1181408958 | ABCA4 | c.4730T= (p.Val1577=) n.224T= c.1106T= (p.Val369=) | |
| 1 | g.94021889A>C | CA341283899 | ABCA4 | c.4730T>G (p.Val1577Gly) n.224T>G c.1106T>G (p.Val369Gly) | |
| 1 | g.94021889A>G | CA957496 | ABCA4 | c.4730T>C (p.Val1577Ala) n.224T>C c.1106T>C (p.Val369Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021889A>T | CA341283901 | ABCA4 | c.4730T>A (p.Val1577Asp) n.224T>A c.1106T>A (p.Val369Asp) | |
| 1 | g.94021890C>A | CA341283903 | ABCA4 | c.4729G>T (p.Val1577Phe) n.223G>T c.1105G>T (p.Val369Phe) | gnomAD v4 |
| 1 | g.94021890C>G | CA341283905 | ABCA4 | c.4729G>C (p.Val1577Leu) n.223G>C c.1105G>C (p.Val369Leu) | |
| 1 | g.94021890C>T | CA341283906 | ABCA4 | c.4729G>A (p.Val1577Ile) n.223G>A c.1105G>A (p.Val369Ile) | gnomAD v4 |
| 1 | g.94021891A= | CA1143701100 | ABCA4 | c.4728T= (p.Leu1576=) n.222T= c.1104T= (p.Leu368=) | |
| 1 | g.94021891A>C | CA418821914 | ABCA4 | c.4728T>G (p.Leu1576=) n.222T>G c.1104T>G (p.Leu368=) | |
| 1 | g.94021891A>G | CA957497 | ABCA4 | c.4728T>C (p.Leu1576=) n.222T>C c.1104T>C (p.Leu368=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021891A>T | CA418821915 | ABCA4 | c.4728T>A (p.Leu1576=) n.222T>A c.1104T>A (p.Leu368=) | |
| 1 | g.94021892A= | CA1181408970 | ABCA4 | c.4727T= (p.Leu1576=) n.221T= c.1103T= (p.Leu368=) | |
| 1 | g.94021892A>C | CA341283909 | ABCA4 | c.4727T>G (p.Leu1576Arg) n.221T>G c.1103T>G (p.Leu368Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.94021892A>G | CA341283911 | ABCA4 | c.4727T>C (p.Leu1576Pro) n.221T>C c.1103T>C (p.Leu368Pro) | gnomAD v4 |
| 1 | g.94021892A>T | CA341283912 | ABCA4 | c.4727T>A (p.Leu1576His) n.221T>A c.1103T>A (p.Leu368His) | COSMIC |
| 1 | g.94021893G>A | CA957498 | ABCA4 | c.4726C>T (p.Leu1576Phe) n.220C>T c.1102C>T (p.Leu368Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021893G>C | CA341283916 | ABCA4 | c.4726C>G (p.Leu1576Val) n.220C>G c.1102C>G (p.Leu368Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021893G= | CA1181408972 | ABCA4 | c.4726C= (p.Leu1576=) n.220C= c.1102C= (p.Leu368=) | |
| 1 | g.94021893G>T | CA341283914 | ABCA4 | c.4726C>A (p.Leu1576Ile) n.220C>A c.1102C>A (p.Leu368Ile) | |
| 1 | g.94021894T>A | CA418821918 | ABCA4 | c.4725A>T (p.Ala1575=) n.219A>T c.1101A>T (p.Ala367=) | |
| 1 | g.94021894T>C | CA418821919 | ABCA4 | c.4725A>G (p.Ala1575=) n.219A>G c.1101A>G (p.Ala367=) | |
| 1 | g.94021894T>G | CA418821920 | ABCA4 | c.4725A>C (p.Ala1575=) n.219A>C c.1101A>C (p.Ala367=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94021894T= | CA1181408976 | ABCA4 | c.4725A= (p.Ala1575=) n.219A= c.1101A= (p.Ala367=) | |
| 1 | g.94021895G>A | CA341283918 | ABCA4 | c.4724C>T (p.Ala1575Val) n.218C>T c.1100C>T (p.Ala367Val) | gnomAD v4 |
| 1 | g.94021895G>C | CA341283919 | ABCA4 | c.4724C>G (p.Ala1575Gly) n.218C>G c.1100C>G (p.Ala367Gly) | |
| 1 | g.94021895G>T | CA341283921 | ABCA4 | c.4724C>A (p.Ala1575Glu) n.218C>A c.1100C>A (p.Ala367Glu) | |
| 1 | g.94021896C>A | CA341283923 | ABCA4 | c.4723G>T (p.Ala1575Ser) n.217G>T c.1099G>T (p.Ala367Ser) | |
| 1 | g.94021896C= | CA1181408979 | ABCA4 | c.4723G= (p.Ala1575=) n.217G= c.1099G= (p.Ala367=) | |
| 1 | g.94021896C>G | CA957499 | ABCA4 | c.4723G>C (p.Ala1575Pro) n.217G>C c.1099G>C (p.Ala367Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021896C>T | CA341283925 | ABCA4 | c.4723G>A (p.Ala1575Thr) n.217G>A c.1099G>A (p.Ala367Thr) | gnomAD v4 |
| 1 | g.94021897T>A | CA341283926 | ABCA4 | c.4722A>T (p.Glu1574Asp) n.216A>T c.1098A>T (p.Glu366Asp) | |
| 1 | g.94021897T>C | CA418821921 | ABCA4 | c.4722A>G (p.Glu1574=) n.216A>G c.1098A>G (p.Glu366=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021897T>G | CA341283928 | ABCA4 | c.4722A>C (p.Glu1574Asp) n.216A>C c.1098A>C (p.Glu366Asp) | |
| 1 | g.94021897T= | CA1181408981 | ABCA4 | c.4722A= (p.Glu1574=) n.216A= c.1098A= (p.Glu366=) | |
| 1 | g.94021898T>A | CA341283930 | ABCA4 | c.4721A>T (p.Glu1574Val) n.215A>T c.1097A>T (p.Glu366Val) | |
| 1 | g.94021898T>C | CA341283931 | ABCA4 | c.4721A>G (p.Glu1574Gly) n.215A>G c.1097A>G (p.Glu366Gly) | |
| 1 | g.94021898T>G | CA341283933 | ABCA4 | c.4721A>C (p.Glu1574Ala) n.215A>C c.1097A>C (p.Glu366Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021898T= | CA1181408986 | ABCA4 | c.4721A= (p.Glu1574=) n.215A= c.1097A= (p.Glu366=) | |
| 1 | g.94021898_94021899delinsTC | CA1181408985 | ABCA4 | c.4720_4721delinsGA (p.Glu1574=) n.214_215delinsGA c.1096_1097delinsGA (p.Glu366=) | |
| 1 | g.94021899C>A | CA341283936 | ABCA4 | c.4720G>T (p.Glu1574Ter) n.214G>T c.1096G>T (p.Glu366Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021899C= | CA1181408990 | ABCA4 | c.4720G= (p.Glu1574=) n.214G= c.1096G= (p.Glu366=) | |
| 1 | g.94021899C>G | CA341283935 | ABCA4 | c.4720G>C (p.Glu1574Gln) n.214G>C c.1096G>C (p.Glu366Gln) | |
| 1 | g.94021899C>T | CA341283934 | ABCA4 | c.4720G>A (p.Glu1574Lys) n.214G>A c.1096G>A (p.Glu366Lys) | |
| 1 | g.94021903dup | CA2646647833 | ABCA4 | c.4720dup (p.Glu1574GlyfsTer23) n.214dup c.1096dup (p.Glu366GlyfsTer23) | ClinVar gnomAD v4 |
| 1 | g.94021903del | CA524697456 | ABCA4 | c.4720del (p.Glu1574LysfsTer7) n.214del c.1096del (p.Glu366LysfsTer7) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021900C>A | CA418821922 | ABCA4 | c.4719G>T (p.Gly1573=) n.213G>T c.1095G>T (p.Gly365=) | ClinVar |
| 1 | g.94021900C= | CA1181408991 | ABCA4 | c.4719G= (p.Gly1573=) n.213G= c.1095G= (p.Gly365=) | |
| 1 | g.94021900C>G | CA418821923 | ABCA4 | c.4719G>C (p.Gly1573=) n.213G>C c.1095G>C (p.Gly365=) | gnomAD v4 |
| 1 | g.94021900C>T | CA418821924 | ABCA4 | c.4719G>A (p.Gly1573=) n.213G>A c.1095G>A (p.Gly365=) | gnomAD v4 |
| 1 | g.94021901C>A | CA341283938 | ABCA4 | c.4718G>T (p.Gly1573Val) n.212G>T c.1094G>T (p.Gly365Val) | |
| 1 | g.94021901C= | CA1181408995 | ABCA4 | c.4718G= (p.Gly1573=) n.212G= c.1094G= (p.Gly365=) | |
| 1 | g.94021901C>G | CA957500 | ABCA4 | c.4718G>C (p.Gly1573Ala) n.212G>C c.1094G>C (p.Gly365Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021901C>T | CA341283940 | ABCA4 | c.4718G>A (p.Gly1573Glu) n.212G>A c.1094G>A (p.Gly365Glu) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.94021901_94021904dup | CA524697457 | ABCA4 | c.4715_4718dup (p.Glu1574GlyfsTer24) n.209_212dup c.1091_1094dup (p.Glu366GlyfsTer24) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021902C>A | CA341283941 | ABCA4 | c.4717G>T (p.Gly1573Trp) n.211G>T c.1093G>T (p.Gly365Trp) | |
| 1 | g.94021902C>G | CA341283942 | ABCA4 | c.4717G>C (p.Gly1573Arg) n.211G>C c.1093G>C (p.Gly365Arg) | gnomAD v4 |
| 1 | g.94021902C>T | CA341283944 | ABCA4 | c.4717G>A (p.Gly1573Arg) n.211G>A c.1093G>A (p.Gly365Arg) | COSMIC |
| 1 | g.94021903C>A | CA418821925 | ABCA4 | c.4716G>T (p.Thr1572=) n.210G>T c.1092G>T (p.Thr364=) | gnomAD v4 COSMIC |
| 1 | g.94021903C= | CA1181409000 | ABCA4 | c.4716G= (p.Thr1572=) n.210G= c.1092G= (p.Thr364=) | |
| 1 | g.94021903C>G | CA418821926 | ABCA4 | c.4716G>C (p.Thr1572=) n.210G>C c.1092G>C (p.Thr364=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94021903C>T | CA957501 | ABCA4 | c.4716G>A (p.Thr1572=) n.210G>A c.1092G>A (p.Thr364=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021904G>A | CA957502 | ABCA4 | c.4715C>T (p.Thr1572Met) n.209C>T c.1091C>T (p.Thr364Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021904G>C | CA341283947 | ABCA4 | c.4715C>G (p.Thr1572Arg) n.209C>G c.1091C>G (p.Thr364Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021904G= | CA1142747665 | ABCA4 | c.4715C= (p.Thr1572=) n.209C= c.1091C= (p.Thr364=) | |
| 1 | g.94021904G>T | CA341283948 | ABCA4 | c.4715C>A (p.Thr1572Lys) n.209C>A c.1091C>A (p.Thr364Lys) | gnomAD v4 COSMIC |
| 1 | g.94021905T>A | CA227228 | ABCA4 | c.4714A>T (p.Thr1572Ser) n.208A>T c.1090A>T (p.Thr364Ser) | ClinVar dbSNP |
| 1 | g.94021905T>C | CA341283951 | ABCA4 | c.4714A>G (p.Thr1572Ala) n.208A>G c.1090A>G (p.Thr364Ala) | |
| 1 | g.94021905T>G | CA341283952 | ABCA4 | c.4714A>C (p.Thr1572Pro) n.208A>C c.1090A>C (p.Thr364Pro) | COSMIC |
| 1 | g.94021905T= | CA1140762697 | ABCA4 | c.4714A= (p.Thr1572=) n.208A= c.1090A= (p.Thr364=) | |
| 1 | g.94021906G>A | CA957503 | ABCA4 | c.4713C>T (p.Ile1571=) n.207C>T c.1089C>T (p.Ile363=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021906G>C | CA341283954 | ABCA4 | c.4713C>G (p.Ile1571Met) n.207C>G c.1089C>G (p.Ile363Met) | |
| 1 | g.94021906G= | CA1181409017 | ABCA4 | c.4713C= (p.Ile1571=) n.207C= c.1089C= (p.Ile363=) | |
| 1 | g.94021906G>T | CA418821928 | ABCA4 | c.4713C>A (p.Ile1571=) n.207C>A c.1089C>A (p.Ile363=) | ClinVar COSMIC |
| 1 | g.94021907A= | CA1181409021 | ABCA4 | c.4712T= (p.Ile1571=) n.206T= c.1088T= (p.Ile363=) | |
| 1 | g.94021907A>C | CA341283955 | ABCA4 | c.4712T>G (p.Ile1571Ser) n.206T>G c.1088T>G (p.Ile363Ser) | |
| 1 | g.94021907A>G | CA341283956 | ABCA4 | c.4712T>C (p.Ile1571Thr) n.206T>C c.1088T>C (p.Ile363Thr) | |
| 1 | g.94021907A>T | CA957504 | ABCA4 | c.4712T>A (p.Ile1571Asn) n.206T>A c.1088T>A (p.Ile363Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021908del | CA2739292003 | ABCA4 | c.4711del (p.Ile1571SerfsTer10) n.205del c.1087del (p.Ile363SerfsTer10) | |
| 1 | g.94021908T>A | CA341283958 | ABCA4 | c.4711A>T (p.Ile1571Phe) n.205A>T c.1087A>T (p.Ile363Phe) | |
| 1 | g.94021908T>C | CA341283960 | ABCA4 | c.4711A>G (p.Ile1571Val) n.205A>G c.1087A>G (p.Ile363Val) | |
| 1 | g.94021908T>G | CA341283961 | ABCA4 | c.4711A>C (p.Ile1571Leu) n.205A>C c.1087A>C (p.Ile363Leu) | |
| 1 | g.94021908_94021909delinsTG | CA1181409024 | ABCA4 | c.4710_4711delinsCA (p.Pro1570=) n.204_205delinsCA c.1086_1087delinsCA (p.Pro362=) | |
| 1 | g.94021908_94021910del | CA2586966856 | ABCA4 | c.4709_4711del (p.Pro1570_Ile1571delinsLeu) n.203_205del c.1085_1087del (p.Pro362_Ile363delinsLeu) | |
| 1 | g.94021909G>A | CA26845295 | ABCA4 | c.4710C>T (p.Pro1570=) n.204C>T c.1086C>T (p.Pro362=) | dbSNP |
| 1 | g.94021909G>C | CA418821929 | ABCA4 | c.4710C>G (p.Pro1570=) n.204C>G c.1086C>G (p.Pro362=) | |
| 1 | g.94021909G= | CA1181409031 | ABCA4 | c.4710C= (p.Pro1570=) n.204C= c.1086C= (p.Pro362=) | |
| 1 | g.94021909G>T | CA418821930 | ABCA4 | c.4710C>A (p.Pro1570=) n.204C>A c.1086C>A (p.Pro362=) | |
| 1 | g.94021909_94021912delinsGGGG | CA1143538143 | ABCA4 | c.4707_4710delinsCCCC (p.Val1569=) n.201_204delinsCCCC c.1083_1086delinsCCCC (p.Val361=) | |
| 1 | g.94021912del | CA227227 | ABCA4 | c.4710del (p.Ile1571SerfsTer10) n.204del c.1086del (p.Ile363SerfsTer10) | ClinVar dbSNP |
| 1 | g.94021910G>A | CA341283964 | ABCA4 | c.4709C>T (p.Pro1570Leu) n.203C>T c.1085C>T (p.Pro362Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021910G>C | CA341283967 | ABCA4 | c.4709C>G (p.Pro1570Arg) n.203C>G c.1085C>G (p.Pro362Arg) | |
| 1 | g.94021910G= | CA1181409034 | ABCA4 | c.4709C= (p.Pro1570=) n.203C= c.1085C= (p.Pro362=) | |
| 1 | g.94021910G>T | CA341283966 | ABCA4 | c.4709C>A (p.Pro1570His) n.203C>A c.1085C>A (p.Pro362His) | dbSNP |
| 1 | g.94021911G>A | CA957505 | ABCA4 | c.4708C>T (p.Pro1570Ser) n.202C>T c.1084C>T (p.Pro362Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.94021911G>C | CA341283968 | ABCA4 | c.4708C>G (p.Pro1570Ala) n.202C>G c.1084C>G (p.Pro362Ala) | |
| 1 | g.94021911G= | CA1181409036 | ABCA4 | c.4708C= (p.Pro1570=) n.202C= c.1084C= (p.Pro362=) | |
| 1 | g.94021911G>T | CA341283969 | ABCA4 | c.4708C>A (p.Pro1570Thr) n.202C>A c.1084C>A (p.Pro362Thr) | gnomAD v4 |
| 1 | g.94021912G>A | CA418821932 | ABCA4 | c.4707C>T (p.Val1569=) n.201C>T c.1083C>T (p.Val361=) | ClinVar COSMIC |
| 1 | g.94021912G>C | CA418821933 | ABCA4 | c.4707C>G (p.Val1569=) n.201C>G c.1083C>G (p.Val361=) | |
| 1 | g.94021912G= | CA1181409039 | ABCA4 | c.4707C= (p.Val1569=) n.201C= c.1083C= (p.Val361=) | |
| 1 | g.94021912G>T | CA418821935 | ABCA4 | c.4707C>A (p.Val1569=) n.201C>A c.1083C>A (p.Val361=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021913del | CA2586966859 | ABCA4 | c.4706del (p.Val1569AlafsTer12) n.200del c.1082del (p.Val361AlafsTer12) | gnomAD v4 |
| 1 | g.94021913A>C | CA341283975 | ABCA4 | c.4706T>G (p.Val1569Gly) n.200T>G c.1082T>G (p.Val361Gly) | |
| 1 | g.94021913A>G | CA341283971 | ABCA4 | c.4706T>C (p.Val1569Ala) n.200T>C c.1082T>C (p.Val361Ala) | ClinVar dbSNP |
| 1 | g.94021913A>T | CA341283973 | ABCA4 | c.4706T>A (p.Val1569Asp) n.200T>A c.1082T>A (p.Val361Asp) | |
| 1 | g.94021914C>A | CA341283977 | ABCA4 | c.4705G>T (p.Val1569Phe) n.199G>T c.1081G>T (p.Val361Phe) | |
| 1 | g.94021914C= | CA1143900714 | ABCA4 | c.4705G= (p.Val1569=) n.199G= c.1081G= (p.Val361=) | |
| 1 | g.94021914C>G | CA957507 | ABCA4 | c.4705G>C (p.Val1569Leu) n.199G>C c.1081G>C (p.Val361Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021914C>T | CA957506 | ABCA4 | c.4705G>A (p.Val1569Ile) n.199G>A c.1081G>A (p.Val361Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.94021915G>A | CA26845313 | ABCA4 | c.4704C>T (p.Val1568=) n.198C>T c.1080C>T (p.Val360=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021915G>C | CA418821936 | ABCA4 | c.4704C>G (p.Val1568=) n.198C>G c.1080C>G (p.Val360=) | |
| 1 | g.94021915G= | CA1181409045 | ABCA4 | c.4704C= (p.Val1568=) n.198C= c.1080C= (p.Val360=) | |
| 1 | g.94021915G>T | CA418821937 | ABCA4 | c.4704C>A (p.Val1568=) n.198C>A c.1080C>A (p.Val360=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021916A= | CA1181409046 | ABCA4 | c.4703T= (p.Val1568=) n.197T= c.1079T= (p.Val360=) | |
| 1 | g.94021916A>C | CA341283979 | ABCA4 | c.4703T>G (p.Val1568Gly) n.197T>G c.1079T>G (p.Val360Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021916A>G | CA341283981 | ABCA4 | c.4703T>C (p.Val1568Ala) n.197T>C c.1079T>C (p.Val360Ala) | |
| 1 | g.94021916A>T | CA341283983 | ABCA4 | c.4703T>A (p.Val1568Asp) n.197T>A c.1079T>A (p.Val360Asp) | gnomAD v4 |
| 1 | g.94021917C>A | CA341283984 | ABCA4 | c.4702G>T (p.Val1568Phe) n.196G>T c.1078G>T (p.Val360Phe) | gnomAD v4 |
| 1 | g.94021917C>G | CA341283986 | ABCA4 | c.4702G>C (p.Val1568Leu) n.196G>C c.1078G>C (p.Val360Leu) | |
| 1 | g.94021917C>T | CA341283988 | ABCA4 | c.4702G>A (p.Val1568Ile) n.196G>A c.1078G>A (p.Val360Ile) | |
| 1 | g.94021918T>A | CA418821939 | ABCA4 | c.4701A>T (p.Pro1567=) n.195A>T c.1077A>T (p.Pro359=) | |
| 1 | g.94021918T>C | CA957508 | ABCA4 | c.4701A>G (p.Pro1567=) n.195A>G c.1077A>G (p.Pro359=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021918T>G | CA418821940 | ABCA4 | c.4701A>C (p.Pro1567=) n.195A>C c.1077A>C (p.Pro359=) | |
| 1 | g.94021918T= | CA1181409049 | ABCA4 | c.4701A= (p.Pro1567=) n.195A= c.1077A= (p.Pro359=) | |
| 1 | g.94021919G>A | CA957509 | ABCA4 | c.4700C>T (p.Pro1567Leu) n.194C>T c.1076C>T (p.Pro359Leu) | ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.94021919G>C | CA957510 | ABCA4 | c.4700C>G (p.Pro1567Arg) n.194C>G c.1076C>G (p.Pro359Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021919G= | CA1181409051 | ABCA4 | c.4700C= (p.Pro1567=) n.194C= c.1076C= (p.Pro359=) | |
| 1 | g.94021919G>T | CA341283991 | ABCA4 | c.4700C>A (p.Pro1567Gln) n.194C>A c.1076C>A (p.Pro359Gln) | |
| 1 | g.94021920G>A | CA957511 | ABCA4 | c.4699C>T (p.Pro1567Ser) n.193C>T c.1075C>T (p.Pro359Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021920G>C | CA341283995 | ABCA4 | c.4699C>G (p.Pro1567Ala) n.193C>G c.1075C>G (p.Pro359Ala) | |
| 1 | g.94021920G= | CA1181409057 | ABCA4 | c.4699C= (p.Pro1567=) n.193C= c.1075C= (p.Pro359=) | |
| 1 | g.94021920G>T | CA341283994 | ABCA4 | c.4699C>A (p.Pro1567Thr) n.193C>A c.1075C>A (p.Pro359Thr) | |
| 1 | g.94021921G>A | CA418821941 | ABCA4 | c.4698C>T (p.Leu1566=) n.192C>T c.1074C>T (p.Leu358=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94021921G>C | CA418821942 | ABCA4 | c.4698C>G (p.Leu1566=) n.192C>G c.1074C>G (p.Leu358=) | dbSNP |
| 1 | g.94021921G= | CA1181409059 | ABCA4 | c.4698C= (p.Leu1566=) n.192C= c.1074C= (p.Leu358=) | |
| 1 | g.94021921G>T | CA418821943 | ABCA4 | c.4698C>A (p.Leu1566=) n.192C>A c.1074C>A (p.Leu358=) | |
| 1 | g.94021922A>C | CA341283996 | ABCA4 | c.4697T>G (p.Leu1566Arg) n.191T>G c.1073T>G (p.Leu358Arg) | gnomAD v4 |
| 1 | g.94021922A>G | CA341283997 | ABCA4 | c.4697T>C (p.Leu1566Pro) n.191T>C c.1073T>C (p.Leu358Pro) | |
| 1 | g.94021922A>T | CA341283999 | ABCA4 | c.4697T>A (p.Leu1566His) n.191T>A c.1073T>A (p.Leu358His) | |
| 1 | g.94021923G>A | CA957512 | ABCA4 | c.4696C>T (p.Leu1566Phe) n.190C>T c.1072C>T (p.Leu358Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021923G>C | CA341284001 | ABCA4 | c.4696C>G (p.Leu1566Val) n.190C>G c.1072C>G (p.Leu358Val) | |
| 1 | g.94021923G= | CA1144190135 | ABCA4 | c.4696C= (p.Leu1566=) n.190C= c.1072C= (p.Leu358=) | |
| 1 | g.94021923G>T | CA341284002 | ABCA4 | c.4696C>A (p.Leu1566Ile) n.190C>A c.1072C>A (p.Leu358Ile) | |
| 1 | g.94021924C>A | CA341284004 | ABCA4 | c.4695G>T (p.Lys1565Asn) n.189G>T c.1071G>T (p.Lys357Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94021924C= | CA1181409071 | ABCA4 | c.4695G= (p.Lys1565=) n.189G= c.1071G= (p.Lys357=) | |
| 1 | g.94021924C>G | CA341284005 | ABCA4 | c.4695G>C (p.Lys1565Asn) n.189G>C c.1071G>C (p.Lys357Asn) | |
| 1 | g.94021924C>T | CA418821946 | ABCA4 | c.4695G>A (p.Lys1565=) n.189G>A c.1071G>A (p.Lys357=) | |
| 1 | g.94021925T>A | CA341284006 | ABCA4 | c.4694A>T (p.Lys1565Met) n.188A>T c.1070A>T (p.Lys357Met) | |
| 1 | g.94021925T>C | CA341284008 | ABCA4 | c.4694A>G (p.Lys1565Arg) n.188A>G c.1070A>G (p.Lys357Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94021925T>G | CA341284009 | ABCA4 | c.4694A>C (p.Lys1565Thr) n.188A>C c.1070A>C (p.Lys357Thr) | |
| 1 | g.94021925T= | CA1181409073 | ABCA4 | c.4694A= (p.Lys1565=) n.188A= c.1070A= (p.Lys357=) | |
| 1 | g.94021926T>A | CA341284014 | ABCA4 | c.4693A>T (p.Lys1565Ter) n.187A>T c.1069A>T (p.Lys357Ter) | |
| 1 | g.94021926T>C | CA341284013 | ABCA4 | c.4693A>G (p.Lys1565Glu) n.187A>G c.1069A>G (p.Lys357Glu) | |
| 1 | g.94021926T>G | CA341284011 | ABCA4 | c.4693A>C (p.Lys1565Gln) n.187A>C c.1069A>C (p.Lys357Gln) | |
| 1 | g.94021927T>A | CA418821948 | ABCA4 | c.4692A>T (p.Gly1564=) n.186A>T c.1068A>T (p.Gly356=) | |
| 1 | g.94021927T>C | CA418821949 | ABCA4 | c.4692A>G (p.Gly1564=) n.186A>G c.1068A>G (p.Gly356=) | |
| 1 | g.94021927T>G | CA418821950 | ABCA4 | c.4692A>C (p.Gly1564=) n.186A>C c.1068A>C (p.Gly356=) | |
| 1 | g.94021928C>A | CA341284015 | ABCA4 | c.4691G>T (p.Gly1564Val) n.185G>T c.1067G>T (p.Gly356Val) | |
| 1 | g.94021928C>G | CA341284016 | ABCA4 | c.4691G>C (p.Gly1564Ala) n.185G>C c.1067G>C (p.Gly356Ala) | |
| 1 | g.94021928C>T | CA341284017 | ABCA4 | c.4691G>A (p.Gly1564Glu) n.185G>A c.1067G>A (p.Gly356Glu) | |
| 1 | g.94021929C>A | CA341284019 | ABCA4 | c.4690G>T (p.Gly1564Ter) n.184G>T c.1066G>T (p.Gly356Ter) | |
| 1 | g.94021929C>G | CA341284020 | ABCA4 | c.4690G>C (p.Gly1564Arg) n.184G>C c.1066G>C (p.Gly356Arg) | |
| 1 | g.94021929C>T | CA341284021 | ABCA4 | c.4690G>A (p.Gly1564Arg) n.184G>A c.1066G>A (p.Gly356Arg) | |
| 1 | g.94021930del | CA2586966860 | ABCA4 | c.4689del (p.Gly1564GlufsTer17) n.183del c.1065del (p.Gly356GlufsTer17) | |
| 1 | g.94021930T>A | CA418821951 | ABCA4 | c.4689A>T (p.Gly1563=) n.183A>T c.1065A>T (p.Gly355=) | |
| 1 | g.94021930T>C | CA418821952 | ABCA4 | c.4689A>G (p.Gly1563=) n.183A>G c.1065A>G (p.Gly355=) | |
| 1 | g.94021930T>G | CA418821953 | ABCA4 | c.4689A>C (p.Gly1563=) n.183A>C c.1065A>C (p.Gly355=) | |
| 1 | g.94021931C>A | CA341284023 | ABCA4 | c.4688G>T (p.Gly1563Val) n.182G>T c.1064G>T (p.Gly355Val) | |
| 1 | g.94021931C= | CA1181409075 | ABCA4 | c.4688G= (p.Gly1563=) n.182G= c.1064G= (p.Gly355=) | |
| 1 | g.94021931C>G | CA341284024 | ABCA4 | c.4688G>C (p.Gly1563Ala) n.182G>C c.1064G>C (p.Gly355Ala) | ClinVar dbSNP |
| 1 | g.94021931C>T | CA341284025 | ABCA4 | c.4688G>A (p.Gly1563Glu) n.182G>A c.1064G>A (p.Gly355Glu) | dbSNP |
| 1 | g.94021932C>A | CA341284027 | ABCA4 | c.4687G>T (p.Gly1563Ter) n.181G>T c.1063G>T (p.Gly355Ter) | |
| 1 | g.94021932C>G | CA341284029 | ABCA4 | c.4687G>C (p.Gly1563Arg) n.181G>C c.1063G>C (p.Gly355Arg) | |
| 1 | g.94021932C>T | CA341284030 | ABCA4 | c.4687G>A (p.Gly1563Arg) n.181G>A c.1063G>A (p.Gly355Arg) | |
| 1 | g.94021933A= | CA1181409077 | ABCA4 | c.4686T= (p.Ile1562=) n.180T= c.1062T= (p.Ile354=) | |
| 1 | g.94021933A>C | CA341284031 | ABCA4 | c.4686T>G (p.Ile1562Met) n.180T>G c.1062T>G (p.Ile354Met) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94021933A>G | CA418821957 | ABCA4 | c.4686T>C (p.Ile1562=) n.180T>C c.1062T>C (p.Ile354=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021933A>T | CA418821958 | ABCA4 | c.4686T>A (p.Ile1562=) n.180T>A c.1062T>A (p.Ile354=) | ClinVar |
| 1 | g.94021934A= | CA1139889999 | ABCA4 | c.4685T= (p.Ile1562=) n.179T= c.1061T= (p.Ile354=) | |
| 1 | g.94021934A>C | CA341284035 | ABCA4 | c.4685T>G (p.Ile1562Ser) n.179T>G c.1061T>G (p.Ile354Ser) | |
| 1 | g.94021934A>G | CA227226 | ABCA4 | c.4685T>C (p.Ile1562Thr) n.179T>C c.1061T>C (p.Ile354Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021934A>T | CA341284033 | ABCA4 | c.4685T>A (p.Ile1562Asn) n.179T>A c.1061T>A (p.Ile354Asn) | |
| 1 | g.94021935T>A | CA341284039 | ABCA4 | c.4684A>T (p.Ile1562Phe) n.178A>T c.1060A>T (p.Ile354Phe) | gnomAD v4 |
| 1 | g.94021935T>C | CA341284038 | ABCA4 | c.4684A>G (p.Ile1562Val) n.178A>G c.1060A>G (p.Ile354Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021935T>G | CA341284040 | ABCA4 | c.4684A>C (p.Ile1562Leu) n.178A>C c.1060A>C (p.Ile354Leu) | |
| 1 | g.94021935T= | CA1181409082 | ABCA4 | c.4684A= (p.Ile1562=) n.178A= c.1060A= (p.Ile354=) | |
| 1 | g.94021936G>A | CA418821959 | ABCA4 | c.4683C>T (p.Ser1561=) n.177C>T c.1059C>T (p.Ser353=) | |
| 1 | g.94021936G>C | CA418821960 | ABCA4 | c.4683C>G (p.Ser1561=) n.177C>G c.1059C>G (p.Ser353=) | |
| 1 | g.94021936G>T | CA418821961 | ABCA4 | c.4683C>A (p.Ser1561=) n.177C>A c.1059C>A (p.Ser353=) | |
| 1 | g.94021937G>A | CA341284042 | ABCA4 | c.4682C>T (p.Ser1561Phe) n.176C>T c.1058C>T (p.Ser353Phe) | COSMIC |
| 1 | g.94021937G>C | CA341284043 | ABCA4 | c.4682C>G (p.Ser1561Cys) n.176C>G c.1058C>G (p.Ser353Cys) | |
| 1 | g.94021937G>T | CA341284045 | ABCA4 | c.4682C>A (p.Ser1561Tyr) n.176C>A c.1058C>A (p.Ser353Tyr) | COSMIC |
| 1 | g.94021937_94021938delinsGA | CA1181409086 | ABCA4 | c.4681_4682delinsTC (p.Ser1561=) n.175_176delinsTC c.1057_1058delinsTC (p.Ser353=) | |
| 1 | g.94021938A>C | CA341284047 | ABCA4 | c.4681T>G (p.Ser1561Ala) n.175T>G c.1057T>G (p.Ser353Ala) | |
| 1 | g.94021938A>G | CA341284049 | ABCA4 | c.4681T>C (p.Ser1561Pro) n.175T>C c.1057T>C (p.Ser353Pro) | |
| 1 | g.94021938A>T | CA341284050 | ABCA4 | c.4681T>A (p.Ser1561Thr) n.175T>A c.1057T>A (p.Ser353Thr) | |
| 1 | g.94021940del | CA1139656199 | ABCA4 | c.4681del (p.Ser1561ProfsTer20) n.175del c.1057del (p.Ser353ProfsTer20) | ClinVar dbSNP |
| 1 | g.94021939A= | CA1181409088 | ABCA4 | c.4680T= (p.Ile1560=) n.174T= c.1056T= (p.Ile352=) | |
| 1 | g.94021939A>C | CA341284051 | ABCA4 | c.4680T>G (p.Ile1560Met) n.174T>G c.1056T>G (p.Ile352Met) | |
| 1 | g.94021939A>G | CA418821965 | ABCA4 | c.4680T>C (p.Ile1560=) n.174T>C c.1056T>C (p.Ile352=) | dbSNP gnomAD v4 |
| 1 | g.94021939A>T | CA418821964 | ABCA4 | c.4680T>A (p.Ile1560=) n.174T>A c.1056T>A (p.Ile352=) | |
| 1 | g.94021940A= | CA1181409091 | ABCA4 | c.4679T= (p.Ile1560=) n.173T= c.1055T= (p.Ile352=) | |
| 1 | g.94021940A>C | CA341284053 | ABCA4 | c.4679T>G (p.Ile1560Ser) n.173T>G c.1055T>G (p.Ile352Ser) | |
| 1 | g.94021940A>G | CA341284055 | ABCA4 | c.4679T>C (p.Ile1560Thr) n.173T>C c.1055T>C (p.Ile352Thr) | |
| 1 | g.94021940A>T | CA341284056 | ABCA4 | c.4679T>A (p.Ile1560Asn) n.173T>A c.1055T>A (p.Ile352Asn) | ClinVar dbSNP |
| 1 | g.94021941T>A | CA341284057 | ABCA4 | c.4678A>T (p.Ile1560Phe) n.172A>T c.1054A>T (p.Ile352Phe) | |
| 1 | g.94021941T>C | CA341284059 | ABCA4 | c.4678A>G (p.Ile1560Val) n.172A>G c.1054A>G (p.Ile352Val) | gnomAD v4 |
| 1 | g.94021941T>G | CA341284060 | ABCA4 | c.4678A>C (p.Ile1560Leu) n.172A>C c.1054A>C (p.Ile352Leu) | |
| 1 | g.94021942T>A | CA418821966 | ABCA4 | c.4677A>T (p.Gly1559=) n.171A>T c.1053A>T (p.Gly351=) | |
| 1 | g.94021942T>C | CA418821968 | ABCA4 | c.4677A>G (p.Gly1559=) n.171A>G c.1053A>G (p.Gly351=) | |
| 1 | g.94021942T>G | CA418821969 | ABCA4 | c.4677A>C (p.Gly1559=) n.171A>C c.1053A>C (p.Gly351=) | |
| 1 | g.94021943C>A | CA341284063 | ABCA4 | c.4676G>T (p.Gly1559Val) n.170G>T c.1052G>T (p.Gly351Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94021943C= | CA1181409096 | ABCA4 | c.4676G= (p.Gly1559=) n.170G= c.1052G= (p.Gly351=) | |
| 1 | g.94021943C>G | CA341284062 | ABCA4 | c.4676G>C (p.Gly1559Ala) n.170G>C c.1052G>C (p.Gly351Ala) | |
| 1 | g.94021943C>T | CA341284061 | ABCA4 | c.4676G>A (p.Gly1559Glu) n.170G>A c.1052G>A (p.Gly351Glu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94021944C>A | CA341284064 | ABCA4 | c.4675G>T (p.Gly1559Ter) n.169G>T c.1051G>T (p.Gly351Ter) | COSMIC |
| 1 | g.94021944C>G | CA341284065 | ABCA4 | c.4675G>C (p.Gly1559Arg) n.169G>C c.1051G>C (p.Gly351Arg) | |
| 1 | g.94021944C>T | CA341284066 | ABCA4 | c.4675G>A (p.Gly1559Arg) n.169G>A c.1051G>A (p.Gly351Arg) | |
| 1 | g.94021945T>A | CA418821970 | ABCA4 | c.4674A>T (p.Gly1558=) n.168A>T c.1050A>T (p.Gly350=) | |
| 1 | g.94021945T>C | CA418821971 | ABCA4 | c.4674A>G (p.Gly1558=) n.168A>G c.1050A>G (p.Gly350=) | |
| 1 | g.94021945T>G | CA418821972 | ABCA4 | c.4674A>C (p.Gly1558=) n.168A>C c.1050A>C (p.Gly350=) | |
| 1 | g.94021945_94021950del | CA2697552499 | ABCA4 | c.4669_4674del (p.Tyr1557_Gly1558del) n.163_168del c.1045_1050del (p.Tyr349_Gly350del) | ClinVar |
| 1 | g.94021946C>A | CA341284067 | ABCA4 | c.4673G>T (p.Gly1558Val) n.167G>T c.1049G>T (p.Gly350Val) | |
| 1 | g.94021946C>G | CA341284068 | ABCA4 | c.4673G>C (p.Gly1558Ala) n.167G>C c.1049G>C (p.Gly350Ala) | |
| 1 | g.94021946C>T | CA341284070 | ABCA4 | c.4673G>A (p.Gly1558Glu) n.167G>A c.1049G>A (p.Gly350Glu) | |
| 1 | g.94021947del | CA2646647834 | ABCA4 | c.4673del (p.Gly1558GlufsTer23) n.167del c.1049del (p.Gly350GlufsTer23) | gnomAD v4 |
| 1 | g.94021947C>A | CA341284071 | ABCA4 | c.4672G>T (p.Gly1558Ter) n.166G>T c.1048G>T (p.Gly350Ter) | |
| 1 | g.94021947C= | CA1181409100 | ABCA4 | c.4672G= (p.Gly1558=) n.166G= c.1048G= (p.Gly350=) | |
| 1 | g.94021947C>G | CA341284073 | ABCA4 | c.4672G>C (p.Gly1558Arg) n.166G>C c.1048G>C (p.Gly350Arg) | |
| 1 | g.94021947C>T | CA341284074 | ABCA4 | c.4672G>A (p.Gly1558Arg) n.166G>A c.1048G>A (p.Gly350Arg) | ClinVar dbSNP |
| 1 | g.94021948A= | CA1181409101 | ABCA4 | c.4671T= (p.Tyr1557=) n.165T= c.1047T= (p.Tyr349=) | |
| 1 | g.94021948A>C | CA341284075 | ABCA4 | c.4671T>G (p.Tyr1557Ter) n.165T>G c.1047T>G (p.Tyr349Ter) | |
| 1 | g.94021948A>G | CA418821973 | ABCA4 | c.4671T>C (p.Tyr1557=) n.165T>C c.1047T>C (p.Tyr349=) | dbSNP gnomAD v4 |
| 1 | g.94021948A>T | CA341284077 | ABCA4 | c.4671T>A (p.Tyr1557Ter) n.165T>A c.1047T>A (p.Tyr349Ter) | ClinVar dbSNP |
| 1 | g.94021949T>A | CA341284078 | ABCA4 | c.4670A>T (p.Tyr1557Phe) n.164A>T c.1046A>T (p.Tyr349Phe) | |
| 1 | g.94021949T>C | CA341284080 | ABCA4 | c.4670A>G (p.Tyr1557Cys) n.164A>G c.1046A>G (p.Tyr349Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021949T>G | CA341284082 | ABCA4 | c.4670A>C (p.Tyr1557Ser) n.164A>C c.1046A>C (p.Tyr349Ser) | |
| 1 | g.94021949T= | CA1181409102 | ABCA4 | c.4670A= (p.Tyr1557=) n.164A= c.1046A= (p.Tyr349=) |