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.94030979_94030980delinsAC | CA1181415142 | ABCA4 | c.4253+16_4253+17delinsGT (n.4253+16_4253+17delinsGT) c.629+16_629+17delinsGT (n.629+16_629+17delinsGT) | |
| 1 | g.94030980C>A | CA2646649544 | ABCA4 | c.4253+16G>T (n.4253+16G>T) c.629+16G>T (n.629+16G>T) | gnomAD v4 |
| 1 | g.94030980C= | CA1181415144 | ABCA4 | c.4253+16G= (n.4253+16G=) c.629+16G= (n.629+16G=) | |
| 1 | g.94030980C>T | CA1181415143 | ABCA4 | c.4253+16G>A (n.4253+16G>A) c.629+16G>A (n.629+16G>A) | ClinVar dbSNP |
| 1 | g.94030983del | CA740494958 | ABCA4 | c.4253+16del (n.4253+16del) c.629+16del (n.629+16del) | dbSNP |
| 1 | g.94030981C>A | CA957678 | ABCA4 | c.4253+15G>T (n.4253+15G>T) c.629+15G>T (n.629+15G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94030981C= | CA1181415145 | ABCA4 | c.4253+15G= (n.4253+15G=) c.629+15G= (n.629+15G=) | |
| 1 | g.94030983C>A | CA2646649552 | ABCA4 | c.4253+13G>T (n.4253+13G>T) c.629+13G>T (n.629+13G>T) | gnomAD v4 |
| 1 | g.94030983C= | CA1142074274 | ABCA4 | c.4253+13G= (n.4253+13G=) c.629+13G= (n.629+13G=) | |
| 1 | g.94030983C>T | CA957679 | ABCA4 | c.4253+13G>A (n.4253+13G>A) c.629+13G>A (n.629+13G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94030984G>A | CA26854863 | ABCA4 | c.4253+12C>T (n.4253+12C>T) c.629+12C>T (n.629+12C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94030984G= | CA1181415146 | ABCA4 | c.4253+12C= (n.4253+12C=) c.629+12C= (n.629+12C=) | |
| 1 | g.94030985A= | CA1181415147 | ABCA4 | c.4253+11T= (n.4253+11T=) c.629+11T= (n.629+11T=) | |
| 1 | g.94030985A>C | CA26854865 | ABCA4 | c.4253+11T>G (n.4253+11T>G) c.629+11T>G (n.629+11T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94030985A>G | CA2646649558 | ABCA4 | c.4253+11T>C (n.4253+11T>C) c.629+11T>C (n.629+11T>C) | ClinVar gnomAD v4 |
| 1 | g.94030989C= | CA1143652686 | ABCA4 | c.4253+7G= (n.4253+7G=) c.629+7G= (n.629+7G=) | |
| 1 | g.94030989C>T | CA957680 | ABCA4 | c.4253+7G>A (n.4253+7G>A) c.629+7G>A (n.629+7G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94030990G>A | CA957681 | ABCA4 | c.4253+6C>T (n.4253+6C>T) c.629+6C>T (n.629+6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94030990G= | CA1143877018 | ABCA4 | c.4253+6C= (n.4253+6C=) c.629+6C= (n.629+6C=) | |
| 1 | g.94030991C>A | CA227174 | ABCA4 | c.4253+5G>T (n.4253+5G>T) c.629+5G>T (n.629+5G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94030991C= | CA1140726169 | ABCA4 | c.4253+5G= (n.4253+5G=) c.629+5G= (n.629+5G=) | |
| 1 | g.94030991C>T | CA10602432 | ABCA4 | c.4253+5G>A (n.4253+5G>A) c.629+5G>A (n.629+5G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94030992G>A | CA227173 | ABCA4 | c.4253+4C>T (n.4253+4C>T) c.629+4C>T (n.629+4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94030992G= | CA1140726170 | ABCA4 | c.4253+4C= (n.4253+4C=) c.629+4C= (n.629+4C=) | |
| 1 | g.94030993C= | CA1181415148 | ABCA4 | c.4253+3G= (n.4253+3G=) c.629+3G= (n.629+3G=) | |
| 1 | g.94030993C>G | CA2573131951 | ABCA4 | c.4253+3G>C (n.4253+3G>C) c.629+3G>C (n.629+3G>C) | ClinVar dbSNP |
| 1 | g.94030993C>T | CA1181415149 | ABCA4 | c.4253+3G>A (n.4253+3G>A) c.629+3G>A (n.629+3G>A) | dbSNP gnomAD v4 |
| 1 | g.94030994A>C | CA341286009 | ABCA4 | c.4253+2T>G (n.4253+2T>G) c.629+2T>G (n.629+2T>G) | |
| 1 | g.94030994A>G | CA341286011 | ABCA4 | c.4253+2T>C (n.4253+2T>C) c.629+2T>C (n.629+2T>C) | |
| 1 | g.94030994A>T | CA341286012 | ABCA4 | c.4253+2T>A (n.4253+2T>A) c.629+2T>A (n.629+2T>A) | gnomAD v4 |
| 1 | g.94030995C>A | CA227171 | ABCA4 | c.4253+1G>T (n.4253+1G>T) c.629+1G>T (n.629+1G>T) | ClinVar dbSNP |
| 1 | g.94030995C= | CA1140726171 | ABCA4 | c.4253+1G= (n.4253+1G=) c.629+1G= (n.629+1G=) | |
| 1 | g.94030995C>G | CA341286016 | ABCA4 | c.4253+1G>C (n.4253+1G>C) c.629+1G>C (n.629+1G>C) | |
| 1 | g.94030995C>T | CA341286014 | ABCA4 | c.4253+1G>A (n.4253+1G>A) c.629+1G>A (n.629+1G>A) | ClinVar dbSNP |
| 1 | g.94030996C>A | CA341286018 | ABCA4 | c.4253G>T (p.Ser1418Ile) c.629G>T (p.Ser210Ile) | |
| 1 | g.94030996C>G | CA341286020 | ABCA4 | c.4253G>C (p.Ser1418Thr) c.629G>C (p.Ser210Thr) | |
| 1 | g.94030996C>T | CA341286021 | ABCA4 | c.4253G>A (p.Ser1418Asn) c.629G>A (p.Ser210Asn) | |
| 1 | g.94030997T>A | CA341286023 | ABCA4 | c.4252A>T (p.Ser1418Cys) c.628A>T (p.Ser210Cys) | |
| 1 | g.94030997T>C | CA341286024 | ABCA4 | c.4252A>G (p.Ser1418Gly) c.628A>G (p.Ser210Gly) | ClinVar dbSNP |
| 1 | g.94030997T>G | CA341286025 | ABCA4 | c.4252A>C (p.Ser1418Arg) c.628A>C (p.Ser210Arg) | |
| 1 | g.94030997_94031000delinsTGAA | CA1181415150 | ABCA4 | c.4249_4252delinsTTCA (p.Phe1417=) c.625_628delinsTTCA (p.Phe209=) | |
| 1 | g.94030998G>A | CA418825059 | ABCA4 | c.4251C>T (p.Phe1417=) c.627C>T (p.Phe209=) | |
| 1 | g.94030998G>C | CA341286027 | ABCA4 | c.4251C>G (p.Phe1417Leu) c.627C>G (p.Phe209Leu) | |
| 1 | g.94030998G>T | CA341286029 | ABCA4 | c.4251C>A (p.Phe1417Leu) c.627C>A (p.Phe209Leu) | |
| 1 | g.94031002_94031004del | CA645372198 | ABCA4 | c.4249_4251del (p.Phe1417del) c.625_627del (p.Phe209del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94030999A>C | CA341286031 | ABCA4 | c.4250T>G (p.Phe1417Cys) c.626T>G (p.Phe209Cys) | |
| 1 | g.94030999A>G | CA341286032 | ABCA4 | c.4250T>C (p.Phe1417Ser) c.626T>C (p.Phe209Ser) | gnomAD v4 |
| 1 | g.94030999A>T | CA341286033 | ABCA4 | c.4250T>A (p.Phe1417Tyr) c.626T>A (p.Phe209Tyr) | |
| 1 | g.94031000A= | CA1181415151 | ABCA4 | c.4249T= (p.Phe1417=) c.625T= (p.Phe209=) | |
| 1 | g.94031000A>C | CA341286034 | ABCA4 | c.4249T>G (p.Phe1417Val) c.625T>G (p.Phe209Val) | |
| 1 | g.94031000A>G | CA957682 | ABCA4 | c.4249T>C (p.Phe1417Leu) c.625T>C (p.Phe209Leu) | dbSNP ExAC |
| 1 | g.94031000A>T | CA341286036 | ABCA4 | c.4249T>A (p.Phe1417Ile) c.625T>A (p.Phe209Ile) | |
| 1 | g.94031001G>A | CA418825062 | ABCA4 | c.4248C>T (p.Phe1416=) c.624C>T (p.Phe208=) | |
| 1 | g.94031001G>C | CA341286037 | ABCA4 | c.4248C>G (p.Phe1416Leu) c.624C>G (p.Phe208Leu) | |
| 1 | g.94031001G= | CA1181415152 | ABCA4 | c.4248C= (p.Phe1416=) c.624C= (p.Phe208=) | |
| 1 | g.94031001G>T | CA341286039 | ABCA4 | c.4248C>A (p.Phe1416Leu) c.624C>A (p.Phe208Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031002A>C | CA341286041 | ABCA4 | c.4247T>G (p.Phe1416Cys) c.623T>G (p.Phe208Cys) | |
| 1 | g.94031002A>G | CA341286043 | ABCA4 | c.4247T>C (p.Phe1416Ser) c.623T>C (p.Phe208Ser) | |
| 1 | g.94031002A>T | CA341286044 | ABCA4 | c.4247T>A (p.Phe1416Tyr) c.623T>A (p.Phe208Tyr) | |
| 1 | g.94031003A>C | CA341286046 | ABCA4 | c.4246T>G (p.Phe1416Val) c.622T>G (p.Phe208Val) | |
| 1 | g.94031003A>G | CA341286048 | ABCA4 | c.4246T>C (p.Phe1416Leu) c.622T>C (p.Phe208Leu) | |
| 1 | g.94031003A>T | CA341286050 | ABCA4 | c.4246T>A (p.Phe1416Ile) c.622T>A (p.Phe208Ile) | |
| 1 | g.94031004G>A | CA418825066 | ABCA4 | c.4245C>T (p.Thr1415=) c.621C>T (p.Thr207=) | |
| 1 | g.94031004G>C | CA418825065 | ABCA4 | c.4245C>G (p.Thr1415=) c.621C>G (p.Thr207=) | |
| 1 | g.94031004G>T | CA418825064 | ABCA4 | c.4245C>A (p.Thr1415=) c.621C>A (p.Thr207=) | |
| 1 | g.94031005G>A | CA341286054 | ABCA4 | c.4244C>T (p.Thr1415Ile) c.620C>T (p.Thr207Ile) | |
| 1 | g.94031005G>C | CA341286051 | ABCA4 | c.4244C>G (p.Thr1415Ser) c.620C>G (p.Thr207Ser) | |
| 1 | g.94031005G>T | CA341286052 | ABCA4 | c.4244C>A (p.Thr1415Asn) c.620C>A (p.Thr207Asn) | |
| 1 | g.94031006T>A | CA341286056 | ABCA4 | c.4243A>T (p.Thr1415Ser) c.619A>T (p.Thr207Ser) | |
| 1 | g.94031006T>C | CA341286057 | ABCA4 | c.4243A>G (p.Thr1415Ala) c.619A>G (p.Thr207Ala) | dbSNP |
| 1 | g.94031006T>G | CA341286059 | ABCA4 | c.4243A>C (p.Thr1415Pro) c.619A>C (p.Thr207Pro) | ClinVar dbSNP |
| 1 | g.94031006T= | CA1181415153 | ABCA4 | c.4243A= (p.Thr1415=) c.619A= (p.Thr207=) | |
| 1 | g.94031006dup | CA2580063381 | ABCA4 | c.4243dup (p.Thr1415AsnfsTer7) c.619dup (p.Thr207AsnfsTer7) | ClinVar |
| 1 | g.94031007G>A | CA418825068 | ABCA4 | c.4242C>T (p.Tyr1414=) c.618C>T (p.Tyr206=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94031007G>C | CA341286061 | ABCA4 | c.4242C>G (p.Tyr1414Ter) c.618C>G (p.Tyr206Ter) | |
| 1 | g.94031007G= | CA1181415154 | ABCA4 | c.4242C= (p.Tyr1414=) c.618C= (p.Tyr206=) | |
| 1 | g.94031007G>T | CA341286062 | ABCA4 | c.4242C>A (p.Tyr1414Ter) c.618C>A (p.Tyr206Ter) | |
| 1 | g.94031008T>A | CA341286063 | ABCA4 | c.4241A>T (p.Tyr1414Phe) c.617A>T (p.Tyr206Phe) | |
| 1 | g.94031008T>C | CA341286067 | ABCA4 | c.4241A>G (p.Tyr1414Cys) c.617A>G (p.Tyr206Cys) | |
| 1 | g.94031008T>G | CA341286065 | ABCA4 | c.4241A>C (p.Tyr1414Ser) c.617A>C (p.Tyr206Ser) | |
| 1 | g.94031009A>C | CA341286068 | ABCA4 | c.4240T>G (p.Tyr1414Asp) c.616T>G (p.Tyr206Asp) | |
| 1 | g.94031009A>G | CA341286069 | ABCA4 | c.4240T>C (p.Tyr1414His) c.616T>C (p.Tyr206His) | gnomAD v4 |
| 1 | g.94031009A>T | CA341286071 | ABCA4 | c.4240T>A (p.Tyr1414Asn) c.616T>A (p.Tyr206Asn) | |
| 1 | g.94031010C>A | CA341286074 | ABCA4 | c.4239G>T (p.Gln1413His) c.615G>T (p.Gln205His) | |
| 1 | g.94031010C= | CA1181415155 | ABCA4 | c.4239G= (p.Gln1413=) c.615G= (p.Gln205=) | |
| 1 | g.94031010C>G | CA341286075 | ABCA4 | c.4239G>C (p.Gln1413His) c.615G>C (p.Gln205His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94031010C>T | CA418825072 | ABCA4 | c.4239G>A (p.Gln1413=) c.615G>A (p.Gln205=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94031011T>A | CA341286077 | ABCA4 | c.4238A>T (p.Gln1413Leu) c.614A>T (p.Gln205Leu) | |
| 1 | g.94031011T>C | CA341286078 | ABCA4 | c.4238A>G (p.Gln1413Arg) c.614A>G (p.Gln205Arg) | |
| 1 | g.94031011T>G | CA341286080 | ABCA4 | c.4238A>C (p.Gln1413Pro) c.614A>C (p.Gln205Pro) | |
| 1 | g.94031012G>A | CA341286082 | ABCA4 | c.4237C>T (p.Gln1413Ter) c.613C>T (p.Gln205Ter) | ClinVar dbSNP |
| 1 | g.94031012G>C | CA341286083 | ABCA4 | c.4237C>G (p.Gln1413Glu) c.613C>G (p.Gln205Glu) | |
| 1 | g.94031012G>T | CA341286085 | ABCA4 | c.4237C>A (p.Gln1413Lys) c.613C>A (p.Gln205Lys) | COSMIC |
| 1 | g.94031013C>A | CA341286088 | ABCA4 | c.4236G>T (p.Gln1412His) c.612G>T (p.Gln204His) | |
| 1 | g.94031013C= | CA1181415156 | ABCA4 | c.4236G= (p.Gln1412=) c.612G= (p.Gln204=) | |
| 1 | g.94031013C>G | CA341286087 | ABCA4 | c.4236G>C (p.Gln1412His) c.612G>C (p.Gln204His) | |
| 1 | g.94031013C>T | CA418825074 | ABCA4 | c.4236G>A (p.Gln1412=) c.612G>A (p.Gln204=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94031014T>A | CA341286091 | ABCA4 | c.4235A>T (p.Gln1412Leu) c.611A>T (p.Gln204Leu) | |
| 1 | g.94031014T>C | CA341286093 | ABCA4 | c.4235A>G (p.Gln1412Arg) c.611A>G (p.Gln204Arg) | |
| 1 | g.94031014T>G | CA341286094 | ABCA4 | c.4235A>C (p.Gln1412Pro) c.611A>C (p.Gln204Pro) | |
| 1 | g.94031015G>A | CA227169 | ABCA4 | c.4234C>T (p.Gln1412Ter) c.610C>T (p.Gln204Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031015G>C | CA341286096 | ABCA4 | c.4234C>G (p.Gln1412Glu) c.610C>G (p.Gln204Glu) | |
| 1 | g.94031015G= | CA1140726172 | ABCA4 | c.4234C= (p.Gln1412=) c.610C= (p.Gln204=) | |
| 1 | g.94031015G>T | CA341286098 | ABCA4 | c.4234C>A (p.Gln1412Lys) c.610C>A (p.Gln204Lys) | |
| 1 | g.94031016C>A | CA418825076 | ABCA4 | c.4233G>T (p.Gly1411=) c.609G>T (p.Gly203=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94031016C>G | CA418825077 | ABCA4 | c.4233G>C (p.Gly1411=) c.609G>C (p.Gly203=) | |
| 1 | g.94031016C>T | CA418825078 | ABCA4 | c.4233G>A (p.Gly1411=) c.609G>A (p.Gly203=) | |
| 1 | g.94031017C>A | CA341286100 | ABCA4 | c.4232G>T (p.Gly1411Val) c.608G>T (p.Gly203Val) | |
| 1 | g.94031017C= | CA1181415157 | ABCA4 | c.4232G= (p.Gly1411=) c.608G= (p.Gly203=) | |
| 1 | g.94031017C>G | CA341286101 | ABCA4 | c.4232G>C (p.Gly1411Ala) c.608G>C (p.Gly203Ala) | |
| 1 | g.94031017C>T | CA341286103 | ABCA4 | c.4232G>A (p.Gly1411Glu) c.608G>A (p.Gly203Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94031017_94031018insATAC | CA645372197 | ABCA4 | c.4232_4233insTATG (p.Gln1412MetfsTer11) c.608_609insTATG (p.Gln204MetfsTer11) | |
| 1 | g.94031018C>A | CA957683 | ABCA4 | c.4231G>T (p.Gly1411Trp) c.607G>T (p.Gly203Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94031018C= | CA1181415158 | ABCA4 | c.4231G= (p.Gly1411=) c.607G= (p.Gly203=) | |
| 1 | g.94031018C>G | CA341286106 | ABCA4 | c.4231G>C (p.Gly1411Arg) c.607G>C (p.Gly203Arg) | |
| 1 | g.94031018C>T | CA341286108 | ABCA4 | c.4231G>A (p.Gly1411Arg) c.607G>A (p.Gly203Arg) | dbSNP |
| 1 | g.94031018_94031021delinsCATA | CA1140726173 | ABCA4 | c.4228_4231delinsTATG (p.Tyr1410=) c.604_607delinsTATG (p.Tyr202=) | |
| 1 | g.94031018_94031021dup | CA227168 | ABCA4 | c.4228_4231dup (p.Gly1411ValfsTer12) c.604_607dup (p.Gly203ValfsTer12) | ClinVar dbSNP |
| 1 | g.94031019A= | CA1148728734 | ABCA4 | c.4230T= (p.Tyr1410=) c.606T= (p.Tyr202=) | |
| 1 | g.94031019A>C | CA341286112 | ABCA4 | c.4230T>G (p.Tyr1410Ter) c.606T>G (p.Tyr202Ter) | |
| 1 | g.94031019A>G | CA957684 | ABCA4 | c.4230T>C (p.Tyr1410=) c.606T>C (p.Tyr202=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031019A>T | CA341286110 | ABCA4 | c.4230T>A (p.Tyr1410Ter) c.606T>A (p.Tyr202Ter) | |
| 1 | g.94031020T>A | CA341286114 | ABCA4 | c.4229A>T (p.Tyr1410Phe) c.605A>T (p.Tyr202Phe) | |
| 1 | g.94031020T>C | CA341286116 | ABCA4 | c.4229A>G (p.Tyr1410Cys) c.605A>G (p.Tyr202Cys) | ClinVar dbSNP |
| 1 | g.94031020T>G | CA341286118 | ABCA4 | c.4229A>C (p.Tyr1410Ser) c.605A>C (p.Tyr202Ser) | |
| 1 | g.94031020T= | CA1181415159 | ABCA4 | c.4229A= (p.Tyr1410=) c.605A= (p.Tyr202=) | |
| 1 | g.94031021A= | CA1181415160 | ABCA4 | c.4228T= (p.Tyr1410=) c.604T= (p.Tyr202=) | |
| 1 | g.94031021A>C | CA341286120 | ABCA4 | c.4228T>G (p.Tyr1410Asp) c.604T>G (p.Tyr202Asp) | ClinVar dbSNP |
| 1 | g.94031021A>G | CA341286122 | ABCA4 | c.4228T>C (p.Tyr1410His) c.604T>C (p.Tyr202His) | |
| 1 | g.94031021A>T | CA341286123 | ABCA4 | c.4228T>A (p.Tyr1410Asn) c.604T>A (p.Tyr202Asn) | |
| 1 | g.94031022T>A | CA418825082 | ABCA4 | c.4227A>T (p.Ile1409=) c.603A>T (p.Ile201=) | dbSNP |
| 1 | g.94031022T>C | CA341286125 | ABCA4 | c.4227A>G (p.Ile1409Met) c.603A>G (p.Ile201Met) | |
| 1 | g.94031022T>G | CA418825083 | ABCA4 | c.4227A>C (p.Ile1409=) c.603A>C (p.Ile201=) | |
| 1 | g.94031023A>C | CA341286127 | ABCA4 | c.4226T>G (p.Ile1409Arg) c.602T>G (p.Ile201Arg) | |
| 1 | g.94031023A>G | CA341286128 | ABCA4 | c.4226T>C (p.Ile1409Thr) c.602T>C (p.Ile201Thr) | |
| 1 | g.94031023A>T | CA341286129 | ABCA4 | c.4226T>A (p.Ile1409Lys) c.602T>A (p.Ile201Lys) | |
| 1 | g.94031024T>A | CA341286131 | ABCA4 | c.4225A>T (p.Ile1409Leu) c.601A>T (p.Ile201Leu) | |
| 1 | g.94031024T>C | CA341286133 | ABCA4 | c.4225A>G (p.Ile1409Val) c.601A>G (p.Ile201Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94031024T>G | CA341286134 | ABCA4 | c.4225A>C (p.Ile1409Leu) c.601A>C (p.Ile201Leu) | |
| 1 | g.94031025C>A | CA341286138 | ABCA4 | c.4224G>T (p.Trp1408Cys) c.600G>T (p.Trp200Cys) | |
| 1 | g.94031025C= | CA1181415161 | ABCA4 | c.4224G= (p.Trp1408=) c.600G= (p.Trp200=) | |
| 1 | g.94031025C>G | CA341286139 | ABCA4 | c.4224G>C (p.Trp1408Cys) c.600G>C (p.Trp200Cys) | |
| 1 | g.94031025C>T | CA341286136 | ABCA4 | c.4224G>A (p.Trp1408Ter) c.600G>A (p.Trp200Ter) | dbSNP |
| 1 | g.94031026C>A | CA227167 | ABCA4 | c.4223G>T (p.Trp1408Leu) c.599G>T (p.Trp200Leu) | ClinVar dbSNP |
| 1 | g.94031026C= | CA1140726174 | ABCA4 | c.4223G= (p.Trp1408=) c.599G= (p.Trp200=) | |
| 1 | g.94031026C>G | CA341286141 | ABCA4 | c.4223G>C (p.Trp1408Ser) c.599G>C (p.Trp200Ser) | |
| 1 | g.94031026C>T | CA341286140 | ABCA4 | c.4223G>A (p.Trp1408Ter) c.599G>A (p.Trp200Ter) | ClinVar dbSNP |
| 1 | g.94031026_94031027delinsCA | CA1181415162 | ABCA4 | c.4222_4223delinsTG (p.Trp1408=) c.598_599delinsTG (p.Trp200=) | |
| 1 | g.94031027del | CA915941340 | ABCA4 | c.4222del (p.Trp1408GlyfsTer28) c.598del (p.Trp200GlyfsTer28) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94031027A= | CA1140726175 | ABCA4 | c.4222T= (p.Trp1408=) c.598T= (p.Trp200=) | |
| 1 | g.94031027A>C | CA341286142 | ABCA4 | c.4222T>G (p.Trp1408Gly) c.598T>G (p.Trp200Gly) | |
| 1 | g.94031027A>G | CA227166 | ABCA4 | c.4222T>C (p.Trp1408Arg) c.598T>C (p.Trp200Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031027A>T | CA341286145 | ABCA4 | c.4222T>A (p.Trp1408Arg) c.598T>A (p.Trp200Arg) | |
| 1 | g.94031028G>A | CA418825089 | ABCA4 | c.4221C>T (p.Pro1407=) c.597C>T (p.Pro199=) | |
| 1 | g.94031028G>C | CA418825088 | ABCA4 | c.4221C>G (p.Pro1407=) c.597C>G (p.Pro199=) | |
| 1 | g.94031028G>T | CA418825087 | ABCA4 | c.4221C>A (p.Pro1407=) c.597C>A (p.Pro199=) | |
| 1 | g.94031029G>A | CA16617203 | ABCA4 | c.4220C>T (p.Pro1407Leu) c.596C>T (p.Pro199Leu) | ClinVar dbSNP |
| 1 | g.94031029G>C | CA341286147 | ABCA4 | c.4220C>G (p.Pro1407Arg) c.596C>G (p.Pro199Arg) | |
| 1 | g.94031029G= | CA1181415163 | ABCA4 | c.4220C= (p.Pro1407=) c.596C= (p.Pro199=) | |
| 1 | g.94031029G>T | CA341286149 | ABCA4 | c.4220C>A (p.Pro1407His) c.596C>A (p.Pro199His) | |
| 1 | g.94031030G>A | CA341286151 | ABCA4 | c.4219C>T (p.Pro1407Ser) c.595C>T (p.Pro199Ser) | ClinVar COSMIC |
| 1 | g.94031030G>C | CA341286152 | ABCA4 | c.4219C>G (p.Pro1407Ala) c.595C>G (p.Pro199Ala) | |
| 1 | g.94031030G>T | CA341286154 | ABCA4 | c.4219C>A (p.Pro1407Thr) c.595C>A (p.Pro199Thr) | gnomAD v4 |
| 1 | g.94031031G>A | CA418825093 | ABCA4 | c.4218C>T (p.His1406=) c.594C>T (p.His198=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031031G>C | CA341286156 | ABCA4 | c.4218C>G (p.His1406Gln) c.594C>G (p.His198Gln) | |
| 1 | g.94031031G= | CA1181415164 | ABCA4 | c.4218C= (p.His1406=) c.594C= (p.His198=) | |
| 1 | g.94031031G>T | CA341286157 | ABCA4 | c.4218C>A (p.His1406Gln) c.594C>A (p.His198Gln) | |
| 1 | g.94031032del | CA2586966890 | ABCA4 | c.4217del (p.His1406ProfsTer30) c.593del (p.His198ProfsTer30) | |
| 1 | g.94031032T>A | CA341286163 | ABCA4 | c.4217A>T (p.His1406Leu) c.593A>T (p.His198Leu) | |
| 1 | g.94031032T>C | CA341286159 | ABCA4 | c.4217A>G (p.His1406Arg) c.593A>G (p.His198Arg) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94031032T>G | CA341286161 | ABCA4 | c.4217A>C (p.His1406Pro) c.593A>C (p.His198Pro) | |
| 1 | g.94031032T= | CA1181415165 | ABCA4 | c.4217A= (p.His1406=) c.593A= (p.His198=) | |
| 1 | g.94031033del | CA2586966892 | ABCA4 | c.4216del (p.His1406ThrfsTer30) c.592del (p.His198ThrfsTer30) | |
| 1 | g.94031033G>A | CA227165 | ABCA4 | c.4216C>T (p.His1406Tyr) c.592C>T (p.His198Tyr) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94031033G>C | CA341286165 | ABCA4 | c.4216C>G (p.His1406Asp) c.592C>G (p.His198Asp) | gnomAD v4 |
| 1 | g.94031033G= | CA1140726176 | ABCA4 | c.4216C= (p.His1406=) c.592C= (p.His198=) | |
| 1 | g.94031033G>T | CA341286167 | ABCA4 | c.4216C>A (p.His1406Asn) c.592C>A (p.His198Asn) | |
| 1 | g.94031034A>C | CA418825094 | ABCA4 | c.4215T>G (p.Leu1405=) c.591T>G (p.Leu197=) | |
| 1 | g.94031034A>G | CA418825095 | ABCA4 | c.4215T>C (p.Leu1405=) c.591T>C (p.Leu197=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94031034A>T | CA418825096 | ABCA4 | c.4215T>A (p.Leu1405=) c.591T>A (p.Leu197=) | |
| 1 | g.94031035A>C | CA341286169 | ABCA4 | c.4214T>G (p.Leu1405Arg) c.590T>G (p.Leu197Arg) | |
| 1 | g.94031035A>G | CA341286171 | ABCA4 | c.4214T>C (p.Leu1405Pro) c.590T>C (p.Leu197Pro) | |
| 1 | g.94031035A>T | CA341286173 | ABCA4 | c.4214T>A (p.Leu1405His) c.590T>A (p.Leu197His) | |
| 1 | g.94031036G>A | CA341286174 | ABCA4 | c.4213C>T (p.Leu1405Phe) c.589C>T (p.Leu197Phe) | |
| 1 | g.94031036G>C | CA341286176 | ABCA4 | c.4213C>G (p.Leu1405Val) c.589C>G (p.Leu197Val) | |
| 1 | g.94031036G>T | CA341286177 | ABCA4 | c.4213C>A (p.Leu1405Ile) c.589C>A (p.Leu197Ile) | |
| 1 | g.94031037G>A | CA957685 | ABCA4 | c.4212C>T (p.Thr1404=) c.588C>T (p.Thr196=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94031037G>C | CA418825100 | ABCA4 | c.4212C>G (p.Thr1404=) c.588C>G (p.Thr196=) | |
| 1 | g.94031037G= | CA1181415166 | ABCA4 | c.4212C= (p.Thr1404=) c.588C= (p.Thr196=) | |
| 1 | g.94031037G>T | CA418825101 | ABCA4 | c.4212C>A (p.Thr1404=) c.588C>A (p.Thr196=) | gnomAD v4 |
| 1 | g.94031038G>A | CA341286187 | ABCA4 | c.4211C>T (p.Thr1404Ile) c.587C>T (p.Thr196Ile) | COSMIC |
| 1 | g.94031038G>C | CA341286189 | ABCA4 | c.4211C>G (p.Thr1404Ser) c.587C>G (p.Thr196Ser) | |
| 1 | g.94031038G>T | CA341286178 | ABCA4 | c.4211C>A (p.Thr1404Asn) c.587C>A (p.Thr196Asn) | |
| 1 | g.94031039T>A | CA341286191 | ABCA4 | c.4210A>T (p.Thr1404Ser) c.586A>T (p.Thr196Ser) | |
| 1 | g.94031039T>C | CA341286193 | ABCA4 | c.4210A>G (p.Thr1404Ala) c.586A>G (p.Thr196Ala) | |
| 1 | g.94031039T>G | CA341286194 | ABCA4 | c.4210A>C (p.Thr1404Pro) c.586A>C (p.Thr196Pro) | |
| 1 | g.94031040C>A | CA341286196 | ABCA4 | c.4209G>T (p.Leu1403Phe) c.585G>T (p.Leu195Phe) | |
| 1 | g.94031040C>G | CA341286197 | ABCA4 | c.4209G>C (p.Leu1403Phe) c.585G>C (p.Leu195Phe) | |
| 1 | g.94031040C>T | CA418825103 | ABCA4 | c.4209G>A (p.Leu1403=) c.585G>A (p.Leu195=) | |
| 1 | g.94031041A>C | CA341286202 | ABCA4 | c.4208T>G (p.Leu1403Trp) c.584T>G (p.Leu195Trp) | |
| 1 | g.94031041A>G | CA341286200 | ABCA4 | c.4208T>C (p.Leu1403Ser) c.584T>C (p.Leu195Ser) | |
| 1 | g.94031041A>T | CA341286198 | ABCA4 | c.4208T>A (p.Leu1403Ter) c.584T>A (p.Leu195Ter) | |
| 1 | g.94031042A= | CA1145128268 | ABCA4 | c.4207T= (p.Leu1403=) c.583T= (p.Leu195=) | |
| 1 | g.94031042A>C | CA341286204 | ABCA4 | c.4207T>G (p.Leu1403Val) c.583T>G (p.Leu195Val) | |
| 1 | g.94031042A>G | CA957686 | ABCA4 | c.4207T>C (p.Leu1403=) c.583T>C (p.Leu195=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.94031042A>T | CA341286206 | ABCA4 | c.4207T>A (p.Leu1403Met) c.583T>A (p.Leu195Met) | |
| 1 | g.94031043A>C | CA418825106 | ABCA4 | c.4206T>G (p.Ala1402=) c.582T>G (p.Ala194=) | |
| 1 | g.94031043A>G | CA418825107 | ABCA4 | c.4206T>C (p.Ala1402=) c.582T>C (p.Ala194=) | |
| 1 | g.94031043A>T | CA418825108 | ABCA4 | c.4206T>A (p.Ala1402=) c.582T>A (p.Ala194=) | ClinVar dbSNP |
| 1 | g.94031044G>A | CA341286208 | ABCA4 | c.4205C>T (p.Ala1402Val) c.581C>T (p.Ala194Val) | |
| 1 | g.94031044G>C | CA341286209 | ABCA4 | c.4205C>G (p.Ala1402Gly) c.581C>G (p.Ala194Gly) | |
| 1 | g.94031044G>T | CA341286211 | ABCA4 | c.4205C>A (p.Ala1402Asp) c.581C>A (p.Ala194Asp) | |
| 1 | g.94031044dup | CA2573131953 | ABCA4 | c.4205dup (p.Leu1403PhefsTer19) c.581dup (p.Leu195PhefsTer19) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94031045del | CA2739292002 | ABCA4 | c.4204del (p.Ala1402LeufsTer2) c.580del (p.Ala194LeufsTer2) | |
| 1 | g.94031045C>A | CA957687 | ABCA4 | c.4204G>T (p.Ala1402Ser) c.580G>T (p.Ala194Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031045C= | CA1146280929 | ABCA4 | c.4204G= (p.Ala1402=) c.580G= (p.Ala194=) | |
| 1 | g.94031045C>G | CA341286214 | ABCA4 | c.4204G>C (p.Ala1402Pro) c.580G>C (p.Ala194Pro) | |
| 1 | g.94031045C>T | CA26854928 | ABCA4 | c.4204G>A (p.Ala1402Thr) c.580G>A (p.Ala194Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.94031046G>A | CA957688 | ABCA4 | c.4203C>T (p.Pro1401=) c.579C>T (p.Pro193=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031046G>C | CA418825111 | ABCA4 | c.4203C>G (p.Pro1401=) c.579C>G (p.Pro193=) | |
| 1 | g.94031046G= | CA1139894814 | ABCA4 | c.4203C= (p.Pro1401=) c.579C= (p.Pro193=) | |
| 1 | g.94031046G>T | CA285817 | ABCA4 | c.4203C>A (p.Pro1401=) c.579C>A (p.Pro193=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031049del | CA2586966893 | ABCA4 | c.4203del (p.Ala1402LeufsTer2) c.579del (p.Ala194LeufsTer2) | |
| 1 | g.94031047G>A | CA341286215 | ABCA4 | c.4202C>T (p.Pro1401Leu) c.578C>T (p.Pro193Leu) | gnomAD v4 |
| 1 | g.94031047G>C | CA341286216 | ABCA4 | c.4202C>G (p.Pro1401Arg) c.578C>G (p.Pro193Arg) | |
| 1 | g.94031047G>T | CA341286218 | ABCA4 | c.4202C>A (p.Pro1401His) c.578C>A (p.Pro193His) | |
| 1 | g.94031048G>A | CA341286220 | ABCA4 | c.4201C>T (p.Pro1401Ser) c.577C>T (p.Pro193Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94031048G>C | CA341286222 | ABCA4 | c.4201C>G (p.Pro1401Ala) c.577C>G (p.Pro193Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94031048G= | CA1181415167 | ABCA4 | c.4201C= (p.Pro1401=) c.577C= (p.Pro193=) | |
| 1 | g.94031048G>T | CA341286224 | ABCA4 | c.4201C>A (p.Pro1401Thr) c.577C>A (p.Pro193Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94031049G>A | CA227163 | ABCA4 | c.4200C>T (p.Tyr1400=) c.576C>T (p.Tyr192=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94031049G>C | CA341286226 | ABCA4 | c.4200C>G (p.Tyr1400Ter) c.576C>G (p.Tyr192Ter) | |
| 1 | g.94031049G= | CA1140726177 | ABCA4 | c.4200C= (p.Tyr1400=) c.576C= (p.Tyr192=) | |
| 1 | g.94031049G>T | CA341286228 | ABCA4 | c.4200C>A (p.Tyr1400Ter) c.576C>A (p.Tyr192Ter) | ClinVar dbSNP |
| 1 | g.94031050T>A | CA341286233 | ABCA4 | c.4199A>T (p.Tyr1400Phe) c.575A>T (p.Tyr192Phe) | |
| 1 | g.94031050T>C | CA341286231 | ABCA4 | c.4199A>G (p.Tyr1400Cys) c.575A>G (p.Tyr192Cys) | |
| 1 | g.94031050T>G | CA341286230 | ABCA4 | c.4199A>C (p.Tyr1400Ser) c.575A>C (p.Tyr192Ser) | |
| 1 | g.94031051A>C | CA341286234 | ABCA4 | c.4198T>G (p.Tyr1400Asp) c.574T>G (p.Tyr192Asp) | |
| 1 | g.94031051A>G | CA341286237 | ABCA4 | c.4198T>C (p.Tyr1400His) c.574T>C (p.Tyr192His) | |
| 1 | g.94031051A>T | CA341286236 | ABCA4 | c.4198T>A (p.Tyr1400Asn) c.574T>A (p.Tyr192Asn) | |
| 1 | g.94031052T>A | CA341286238 | ABCA4 | c.4197A>T (p.Glu1399Asp) c.573A>T (p.Glu191Asp) | |
| 1 | g.94031052T>C | CA418825113 | ABCA4 | c.4197A>G (p.Glu1399=) c.573A>G (p.Glu191=) | |
| 1 | g.94031052T>G | CA341286240 | ABCA4 | c.4197A>C (p.Glu1399Asp) c.573A>C (p.Glu191Asp) | |
| 1 | g.94031053T>A | CA957689 | ABCA4 | c.4196A>T (p.Glu1399Val) c.572A>T (p.Glu191Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94031053T>C | CA341286244 | ABCA4 | c.4196A>G (p.Glu1399Gly) c.572A>G (p.Glu191Gly) | |
| 1 | g.94031053T>G | CA341286243 | ABCA4 | c.4196A>C (p.Glu1399Ala) c.572A>C (p.Glu191Ala) | |
| 1 | g.94031053T= | CA1181415168 | ABCA4 | c.4196A= (p.Glu1399=) c.572A= (p.Glu191=) | |
| 1 | g.94031054C>A | CA957690 | ABCA4 | c.4195G>T (p.Glu1399Ter) c.571G>T (p.Glu191Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031054C= | CA1140762701 | ABCA4 | c.4195G= (p.Glu1399=) c.571G= (p.Glu191=) | |
| 1 | g.94031054C>G | CA341286248 | ABCA4 | c.4195G>C (p.Glu1399Gln) c.571G>C (p.Glu191Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94031054C>T | CA227162 | ABCA4 | c.4195G>A (p.Glu1399Lys) c.571G>A (p.Glu191Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.94031055G>A | CA957691 | ABCA4 | c.4194C>T (p.Gly1398=) c.570C>T (p.Gly190=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031055G>C | CA418825117 | ABCA4 | c.4194C>G (p.Gly1398=) c.570C>G (p.Gly190=) | gnomAD v4 |
| 1 | g.94031055G= | CA1181415169 | ABCA4 | c.4194C= (p.Gly1398=) c.570C= (p.Gly190=) | |
| 1 | g.94031055G>T | CA418825118 | ABCA4 | c.4194C>A (p.Gly1398=) c.570C>A (p.Gly190=) | |
| 1 | g.94031056C>A | CA341286251 | ABCA4 | c.4193G>T (p.Gly1398Val) c.569G>T (p.Gly190Val) | gnomAD v4 |
| 1 | g.94031056C>G | CA341286253 | ABCA4 | c.4193G>C (p.Gly1398Ala) c.569G>C (p.Gly190Ala) | |
| 1 | g.94031056C>T | CA341286255 | ABCA4 | c.4193G>A (p.Gly1398Asp) c.569G>A (p.Gly190Asp) | |
| 1 | g.94031057del | CA2580063385 | ABCA4 | c.4193del (p.Gly1398AlafsTer6) c.569del (p.Gly190AlafsTer6) | ClinVar |
| 1 | g.94031057C>A | CA341286256 | ABCA4 | c.4192G>T (p.Gly1398Cys) c.568G>T (p.Gly190Cys) | |
| 1 | g.94031057C>G | CA341286257 | ABCA4 | c.4192G>C (p.Gly1398Arg) c.568G>C (p.Gly190Arg) | |
| 1 | g.94031057C>T | CA341286259 | ABCA4 | c.4192G>A (p.Gly1398Ser) c.568G>A (p.Gly190Ser) | ClinVar |
| 1 | g.94031060_94031074del | CA2586966896 | ABCA4 | c.4178_4192del (p.Val1393_Phe1397del) c.554_568del (p.Val185_Phe189del) | |
| 1 | g.94031058A= | CA1181415170 | ABCA4 | c.4191T= (p.Phe1397=) c.567T= (p.Phe189=) | |
| 1 | g.94031058A>C | CA341286261 | ABCA4 | c.4191T>G (p.Phe1397Leu) c.567T>G (p.Phe189Leu) | |
| 1 | g.94031058A>G | CA418825119 | ABCA4 | c.4191T>C (p.Phe1397=) c.567T>C (p.Phe189=) | dbSNP gnomAD v4 |
| 1 | g.94031058A>T | CA341286262 | ABCA4 | c.4191T>A (p.Phe1397Leu) c.567T>A (p.Phe189Leu) | |
| 1 | g.94031059A>C | CA341286263 | ABCA4 | c.4190T>G (p.Phe1397Cys) c.566T>G (p.Phe189Cys) | |
| 1 | g.94031059A>G | CA341286265 | ABCA4 | c.4190T>C (p.Phe1397Ser) c.566T>C (p.Phe189Ser) | |
| 1 | g.94031059A>T | CA341286266 | ABCA4 | c.4190T>A (p.Phe1397Tyr) c.566T>A (p.Phe189Tyr) | |
| 1 | g.94031060A= | CA1181415171 | ABCA4 | c.4189T= (p.Phe1397=) c.565T= (p.Phe189=) | |
| 1 | g.94031060A>C | CA957692 | ABCA4 | c.4189T>G (p.Phe1397Val) c.565T>G (p.Phe189Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.94031060A>G | CA341286271 | ABCA4 | c.4189T>C (p.Phe1397Leu) c.565T>C (p.Phe189Leu) | |
| 1 | g.94031060A>T | CA341286269 | ABCA4 | c.4189T>A (p.Phe1397Ile) c.565T>A (p.Phe189Ile) | |
| 1 | g.94031061A>C | CA418825120 | ABCA4 | c.4188T>G (p.Pro1396=) c.564T>G (p.Pro188=) | |
| 1 | g.94031061A>G | CA418825121 | ABCA4 | c.4188T>C (p.Pro1396=) c.564T>C (p.Pro188=) | |
| 1 | g.94031061A>T | CA418825122 | ABCA4 | c.4188T>A (p.Pro1396=) c.564T>A (p.Pro188=) | |
| 1 | g.94031062G>A | CA341286272 | ABCA4 | c.4187C>T (p.Pro1396Leu) c.563C>T (p.Pro188Leu) | COSMIC |
| 1 | g.94031062G>C | CA341286274 | ABCA4 | c.4187C>G (p.Pro1396Arg) c.563C>G (p.Pro188Arg) | |
| 1 | g.94031062G>T | CA341286275 | ABCA4 | c.4187C>A (p.Pro1396His) c.563C>A (p.Pro188His) | |
| 1 | g.94031063G>A | CA341286277 | ABCA4 | c.4186C>T (p.Pro1396Ser) c.562C>T (p.Pro188Ser) | gnomAD v4 |
| 1 | g.94031063G>C | CA341286279 | ABCA4 | c.4186C>G (p.Pro1396Ala) c.562C>G (p.Pro188Ala) | |
| 1 | g.94031063G>T | CA341286283 | ABCA4 | c.4186C>A (p.Pro1396Thr) c.562C>A (p.Pro188Thr) | |
| 1 | g.94031064A= | CA1181415172 | ABCA4 | c.4185T= (p.Pro1395=) c.561T= (p.Pro187=) | |
| 1 | g.94031064A>C | CA418825123 | ABCA4 | c.4185T>G (p.Pro1395=) c.561T>G (p.Pro187=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94031064A>G | CA418825124 | ABCA4 | c.4185T>C (p.Pro1395=) c.561T>C (p.Pro187=) | |
| 1 | g.94031064A>T | CA418825125 | ABCA4 | c.4185T>A (p.Pro1395=) c.561T>A (p.Pro187=) | |
| 1 | g.94031065G>A | CA26854942 | ABCA4 | c.4184C>T (p.Pro1395Leu) c.560C>T (p.Pro187Leu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94031065G>C | CA341286284 | ABCA4 | c.4184C>G (p.Pro1395Arg) c.560C>G (p.Pro187Arg) | dbSNP gnomAD v4 |
| 1 | g.94031065G= | CA1139849079 | ABCA4 | c.4184C= (p.Pro1395=) c.560C= (p.Pro187=) | |
| 1 | g.94031065G>T | CA341286285 | ABCA4 | c.4184C>A (p.Pro1395His) c.560C>A (p.Pro187His) | |
| 1 | g.94031066G>A | CA341286288 | ABCA4 | c.4183C>T (p.Pro1395Ser) c.559C>T (p.Pro187Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.94031066G>C | CA341286287 | ABCA4 | c.4183C>G (p.Pro1395Ala) c.559C>G (p.Pro187Ala) | |
| 1 | g.94031066G= | CA1181415173 | ABCA4 | c.4183C= (p.Pro1395=) c.559C= (p.Pro187=) | |
| 1 | g.94031066G>T | CA341286286 | ABCA4 | c.4183C>A (p.Pro1395Thr) c.559C>A (p.Pro187Thr) | |
| 1 | g.94031067G>A | CA418825126 | ABCA4 | c.4182C>T (p.Ile1394=) c.558C>T (p.Ile186=) | |
| 1 | g.94031067G>C | CA341286289 | ABCA4 | c.4182C>G (p.Ile1394Met) c.558C>G (p.Ile186Met) | |
| 1 | g.94031067G>T | CA418825127 | ABCA4 | c.4182C>A (p.Ile1394=) c.558C>A (p.Ile186=) | |
| 1 | g.94031068A= | CA1181415174 | ABCA4 | c.4181T= (p.Ile1394=) c.557T= (p.Ile186=) | |
| 1 | g.94031068A>C | CA341286290 | ABCA4 | c.4181T>G (p.Ile1394Ser) c.557T>G (p.Ile186Ser) | |
| 1 | g.94031068A>G | CA341286291 | ABCA4 | c.4181T>C (p.Ile1394Thr) c.557T>C (p.Ile186Thr) | dbSNP |
| 1 | g.94031068A>T | CA341286292 | ABCA4 | c.4181T>A (p.Ile1394Asn) c.557T>A (p.Ile186Asn) | |
| 1 | g.94031069T>A | CA341286293 | ABCA4 | c.4180A>T (p.Ile1394Phe) c.556A>T (p.Ile186Phe) | gnomAD v4 |
| 1 | g.94031069T>C | CA341286294 | ABCA4 | c.4180A>G (p.Ile1394Val) c.556A>G (p.Ile186Val) | gnomAD v4 |
| 1 | g.94031069T>G | CA341286295 | ABCA4 | c.4180A>C (p.Ile1394Leu) c.556A>C (p.Ile186Leu) | |
| 1 | g.94031070A>C | CA418825128 | ABCA4 | c.4179T>G (p.Val1393=) c.555T>G (p.Val185=) | |
| 1 | g.94031070A>G | CA418825129 | ABCA4 | c.4179T>C (p.Val1393=) c.555T>C (p.Val185=) | gnomAD v4 |
| 1 | g.94031070A>T | CA418825130 | ABCA4 | c.4179T>A (p.Val1393=) c.555T>A (p.Val185=) | |
| 1 | g.94031071del | CA2586966897 | ABCA4 | c.4179del (p.Ile1394SerfsTer10) c.555del (p.Ile186SerfsTer10) | |
| 1 | g.94031071A= | CA1181415175 | ABCA4 | c.4178T= (p.Val1393=) c.554T= (p.Val185=) | |
| 1 | g.94031071A>C | CA341286296 | ABCA4 | c.4178T>G (p.Val1393Gly) c.554T>G (p.Val185Gly) | |
| 1 | g.94031071A>G | CA957693 | ABCA4 | c.4178T>C (p.Val1393Ala) c.554T>C (p.Val185Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031071A>T | CA341286297 | ABCA4 | c.4178T>A (p.Val1393Asp) c.554T>A (p.Val185Asp) | |
| 1 | g.94031072C>A | CA341286298 | ABCA4 | c.4177G>T (p.Val1393Phe) c.553G>T (p.Val185Phe) | gnomAD v4 |
| 1 | g.94031072C= | CA1181415176 | ABCA4 | c.4177G= (p.Val1393=) c.553G= (p.Val185=) | |
| 1 | g.94031072C>G | CA341286299 | ABCA4 | c.4177G>C (p.Val1393Leu) c.553G>C (p.Val185Leu) | |
| 1 | g.94031072C>T | CA26854945 | ABCA4 | c.4177G>A (p.Val1393Ile) c.553G>A (p.Val185Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94031073A>C | CA341286300 | ABCA4 | c.4176T>G (p.Ile1392Met) c.552T>G (p.Ile184Met) | |
| 1 | g.94031073A>G | CA418825131 | ABCA4 | c.4176T>C (p.Ile1392=) c.552T>C (p.Ile184=) | dbSNP gnomAD v4 |
| 1 | g.94031073A>T | CA418825132 | ABCA4 | c.4176T>A (p.Ile1392=) c.552T>A (p.Ile184=) | |
| 1 | g.94031074A>C | CA341286301 | ABCA4 | c.4175T>G (p.Ile1392Ser) c.551T>G (p.Ile184Ser) | |
| 1 | g.94031074A>G | CA341286303 | ABCA4 | c.4175T>C (p.Ile1392Thr) c.551T>C (p.Ile184Thr) | |
| 1 | g.94031074A>T | CA341286305 | ABCA4 | c.4175T>A (p.Ile1392Asn) c.551T>A (p.Ile184Asn) | |
| 1 | g.94031075T>A | CA341286306 | ABCA4 | c.4174A>T (p.Ile1392Phe) c.550A>T (p.Ile184Phe) | |
| 1 | g.94031075T>C | CA341286307 | ABCA4 | c.4174A>G (p.Ile1392Val) c.550A>G (p.Ile184Val) | gnomAD v4 |
| 1 | g.94031075T>G | CA341286309 | ABCA4 | c.4174A>C (p.Ile1392Leu) c.550A>C (p.Ile184Leu) | |
| 1 | g.94031076A>C | CA418825133 | ABCA4 | c.4173T>G (p.Ser1391=) c.549T>G (p.Ser183=) | |
| 1 | g.94031076A>G | CA418825134 | ABCA4 | c.4173T>C (p.Ser1391=) c.549T>C (p.Ser183=) | ClinVar |
| 1 | g.94031076A>T | CA418825136 | ABCA4 | c.4173T>A (p.Ser1391=) c.549T>A (p.Ser183=) | |
| 1 | g.94031077G>A | CA341286311 | ABCA4 | c.4172C>T (p.Ser1391Phe) c.548C>T (p.Ser183Phe) | dbSNP |
| 1 | g.94031077G>C | CA341286312 | ABCA4 | c.4172C>G (p.Ser1391Cys) c.548C>G (p.Ser183Cys) | |
| 1 | g.94031077G= | CA1181415177 | ABCA4 | c.4172C= (p.Ser1391=) c.548C= (p.Ser183=) | |
| 1 | g.94031077G>T | CA341286313 | ABCA4 | c.4172C>A (p.Ser1391Tyr) c.548C>A (p.Ser183Tyr) | |
| 1 | g.94031078A>C | CA341286315 | ABCA4 | c.4171T>G (p.Ser1391Ala) c.547T>G (p.Ser183Ala) | |
| 1 | g.94031078A>G | CA341286318 | ABCA4 | c.4171T>C (p.Ser1391Pro) c.547T>C (p.Ser183Pro) | |
| 1 | g.94031078A>T | CA341286325 | ABCA4 | c.4171T>A (p.Ser1391Thr) c.547T>A (p.Ser183Thr) | |
| 1 | g.94031079A>C | CA418825138 | ABCA4 | c.4170T>G (p.Leu1390=) c.546T>G (p.Leu182=) | |
| 1 | g.94031079A>G | CA418825140 | ABCA4 | c.4170T>C (p.Leu1390=) c.546T>C (p.Leu182=) | |
| 1 | g.94031079A>T | CA418825139 | ABCA4 | c.4170T>A (p.Leu1390=) c.546T>A (p.Leu182=) | |
| 1 | g.94031080A= | CA1140726178 | ABCA4 | c.4169T= (p.Leu1390=) c.545T= (p.Leu182=) | |
| 1 | g.94031080A>C | CA341286328 | ABCA4 | c.4169T>G (p.Leu1390Arg) c.545T>G (p.Leu182Arg) | |
| 1 | g.94031080A>G | CA227160 | ABCA4 | c.4169T>C (p.Leu1390Pro) c.545T>C (p.Leu182Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031080A>T | CA341286327 | ABCA4 | c.4169T>A (p.Leu1390His) c.545T>A (p.Leu182His) |