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.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) | ClinVar 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) | |
| 1 | g.94031081G>A | CA341286333 | ABCA4 | c.4168C>T (p.Leu1390Phe) c.544C>T (p.Leu182Phe) | gnomAD v4 |
| 1 | g.94031081G>C | CA341286331 | ABCA4 | c.4168C>G (p.Leu1390Val) c.544C>G (p.Leu182Val) | |
| 1 | g.94031081G= | CA1181415178 | ABCA4 | c.4168C= (p.Leu1390=) c.544C= (p.Leu182=) | |
| 1 | g.94031081G>T | CA957694 | ABCA4 | c.4168C>A (p.Leu1390Ile) c.544C>A (p.Leu182Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94031082C>A | CA341286335 | ABCA4 | c.4167G>T (p.Met1389Ile) c.543G>T (p.Met181Ile) | |
| 1 | g.94031082C>G | CA341286336 | ABCA4 | c.4167G>C (p.Met1389Ile) c.543G>C (p.Met181Ile) | |
| 1 | g.94031082C>T | CA341286338 | ABCA4 | c.4167G>A (p.Met1389Ile) c.543G>A (p.Met181Ile) | |
| 1 | g.94031083A>C | CA341286340 | ABCA4 | c.4166T>G (p.Met1389Arg) c.542T>G (p.Met181Arg) | |
| 1 | g.94031083A>G | CA341286341 | ABCA4 | c.4166T>C (p.Met1389Thr) c.542T>C (p.Met181Thr) | gnomAD v4 |
| 1 | g.94031083A>T | CA341286342 | ABCA4 | c.4166T>A (p.Met1389Lys) c.542T>A (p.Met181Lys) | ClinVar |
| 1 | g.94031084T>A | CA341286343 | ABCA4 | c.4165A>T (p.Met1389Leu) c.541A>T (p.Met181Leu) | |
| 1 | g.94031084T>C | CA341286344 | ABCA4 | c.4165A>G (p.Met1389Val) c.541A>G (p.Met181Val) | |
| 1 | g.94031084T>G | CA341286345 | ABCA4 | c.4165A>C (p.Met1389Leu) c.541A>C (p.Met181Leu) | |
| 1 | g.94031085C>A | CA26854957 | ABCA4 | c.4164G>T (p.Leu1388=) c.540G>T (p.Leu180=) | dbSNP |
| 1 | g.94031085C= | CA1181415179 | ABCA4 | c.4164G= (p.Leu1388=) c.540G= (p.Leu180=) | |
| 1 | g.94031085C>G | CA418825141 | ABCA4 | c.4164G>C (p.Leu1388=) c.540G>C (p.Leu180=) | |
| 1 | g.94031085C>T | CA957695 | ABCA4 | c.4164G>A (p.Leu1388=) c.540G>A (p.Leu180=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94031086A= | CA1140726179 | ABCA4 | c.4163T= (p.Leu1388=) c.539T= (p.Leu180=) | |
| 1 | g.94031086A>C | CA341286357 | ABCA4 | c.4163T>G (p.Leu1388Arg) c.539T>G (p.Leu180Arg) | |
| 1 | g.94031086A>G | CA227159 | ABCA4 | c.4163T>C (p.Leu1388Pro) c.539T>C (p.Leu180Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94031086A>T | CA341286351 | ABCA4 | c.4163T>A (p.Leu1388Gln) c.539T>A (p.Leu180Gln) | |
| 1 | g.94031087G>A | CA418825142 | ABCA4 | c.4162C>T (p.Leu1388=) c.538C>T (p.Leu180=) | gnomAD v4 |
| 1 | g.94031087G>C | CA341286358 | ABCA4 | c.4162C>G (p.Leu1388Val) c.538C>G (p.Leu180Val) | |
| 1 | g.94031087G>T | CA341286360 | ABCA4 | c.4162C>A (p.Leu1388Met) c.538C>A (p.Leu180Met) | |
| 1 | g.94031088A= | CA1181415180 | ABCA4 | c.4161T= (p.Ala1387=) c.537T= (p.Ala179=) | |
| 1 | g.94031088A>C | CA418825143 | ABCA4 | c.4161T>G (p.Ala1387=) c.537T>G (p.Ala179=) | |
| 1 | g.94031088A>G | CA418825144 | ABCA4 | c.4161T>C (p.Ala1387=) c.537T>C (p.Ala179=) | dbSNP gnomAD v4 |
| 1 | g.94031088A>T | CA418825145 | ABCA4 | c.4161T>A (p.Ala1387=) c.537T>A (p.Ala179=) | |
| 1 | g.94031089G>A | CA957696 | ABCA4 | c.4160C>T (p.Ala1387Val) c.536C>T (p.Ala179Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031089G>C | CA341286363 | ABCA4 | c.4160C>G (p.Ala1387Gly) c.536C>G (p.Ala179Gly) | |
| 1 | g.94031089G= | CA1147958367 | ABCA4 | c.4160C= (p.Ala1387=) c.536C= (p.Ala179=) | |
| 1 | g.94031089G>T | CA341286366 | ABCA4 | c.4160C>A (p.Ala1387Asp) c.536C>A (p.Ala179Asp) | |
| 1 | g.94031090C>A | CA341286368 | ABCA4 | c.4159G>T (p.Ala1387Ser) c.535G>T (p.Ala179Ser) | dbSNP |
| 1 | g.94031090C>G | CA341286370 | ABCA4 | c.4159G>C (p.Ala1387Pro) c.535G>C (p.Ala179Pro) | |
| 1 | g.94031090C>T | CA341286373 | ABCA4 | c.4159G>A (p.Ala1387Thr) c.535G>A (p.Ala179Thr) | ClinVar |
| 1 | g.94031091C>A | CA341286375 | ABCA4 | c.4158G>T (p.Leu1386Phe) c.534G>T (p.Leu178Phe) | |
| 1 | g.94031091C= | CA1181415181 | ABCA4 | c.4158G= (p.Leu1386=) c.534G= (p.Leu178=) | |
| 1 | g.94031091C>G | CA341286378 | ABCA4 | c.4158G>C (p.Leu1386Phe) c.534G>C (p.Leu178Phe) | |
| 1 | g.94031091C>T | CA418825146 | ABCA4 | c.4158G>A (p.Leu1386=) c.534G>A (p.Leu178=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031092A>C | CA341286381 | ABCA4 | c.4157T>G (p.Leu1386Trp) c.533T>G (p.Leu178Trp) | |
| 1 | g.94031092A>G | CA341286383 | ABCA4 | c.4157T>C (p.Leu1386Ser) c.533T>C (p.Leu178Ser) | gnomAD v4 |
| 1 | g.94031092A>T | CA341286386 | ABCA4 | c.4157T>A (p.Leu1386Ter) c.533T>A (p.Leu178Ter) | |
| 1 | g.94031096del | CA2586966898 | ABCA4 | c.4157del (p.Leu1386TrpfsTer3) c.533del (p.Leu178TrpfsTer3) | |
| 1 | g.94031093A>C | CA341286390 | ABCA4 | c.4156T>G (p.Leu1386Val) c.532T>G (p.Leu178Val) | |
| 1 | g.94031093A>G | CA418825147 | ABCA4 | c.4156T>C (p.Leu1386=) c.532T>C (p.Leu178=) | |
| 1 | g.94031093A>T | CA341286388 | ABCA4 | c.4156T>A (p.Leu1386Met) c.532T>A (p.Leu178Met) | |
| 1 | g.94031094A>C | CA341286392 | ABCA4 | c.4155T>G (p.Phe1385Leu) c.531T>G (p.Phe177Leu) | |
| 1 | g.94031094A>G | CA418825148 | ABCA4 | c.4155T>C (p.Phe1385=) c.531T>C (p.Phe177=) | |
| 1 | g.94031094A>T | CA341286394 | ABCA4 | c.4155T>A (p.Phe1385Leu) c.531T>A (p.Phe177Leu) | |
| 1 | g.94031094_94031095insCACACCC | CA2744616666 | ABCA4 | c.4154_4155insGGGTGTG (p.Phe1385LeufsTer?) c.530_531insGGGTGTG (p.Phe177LeufsTer?) | |
| 1 | g.94031095A>C | CA341286397 | ABCA4 | c.4154T>G (p.Phe1385Cys) c.530T>G (p.Phe177Cys) | |
| 1 | g.94031095A>G | CA341286399 | ABCA4 | c.4154T>C (p.Phe1385Ser) c.530T>C (p.Phe177Ser) | |
| 1 | g.94031095A>T | CA341286402 | ABCA4 | c.4154T>A (p.Phe1385Tyr) c.530T>A (p.Phe177Tyr) | |
| 1 | g.94031096A= | CA1181415182 | ABCA4 | c.4153T= (p.Phe1385=) c.529T= (p.Phe177=) | |
| 1 | g.94031096A>C | CA957697 | ABCA4 | c.4153T>G (p.Phe1385Val) c.529T>G (p.Phe177Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94031096A>G | CA341286406 | ABCA4 | c.4153T>C (p.Phe1385Leu) c.529T>C (p.Phe177Leu) | |
| 1 | g.94031096A>T | CA341286409 | ABCA4 | c.4153T>A (p.Phe1385Ile) c.529T>A (p.Phe177Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94031097C>A | CA418825149 | ABCA4 | c.4152G>T (p.Val1384=) c.528G>T (p.Val176=) | |
| 1 | g.94031097C>G | CA418825150 | ABCA4 | c.4152G>C (p.Val1384=) c.528G>C (p.Val176=) | |
| 1 | g.94031097C>T | CA418825151 | ABCA4 | c.4152G>A (p.Val1384=) c.528G>A (p.Val176=) | gnomAD v4 |
| 1 | g.94031098A>C | CA341286413 | ABCA4 | c.4151T>G (p.Val1384Gly) c.527T>G (p.Val176Gly) | |
| 1 | g.94031098A>G | CA341286415 | ABCA4 | c.4151T>C (p.Val1384Ala) c.527T>C (p.Val176Ala) | |
| 1 | g.94031098A>T | CA341286416 | ABCA4 | c.4151T>A (p.Val1384Glu) c.527T>A (p.Val176Glu) | |
| 1 | g.94031099C>A | CA341286417 | ABCA4 | c.4150G>T (p.Val1384Leu) c.526G>T (p.Val176Leu) | |
| 1 | g.94031099C= | CA1181415183 | ABCA4 | c.4150G= (p.Val1384=) c.526G= (p.Val176=) | |
| 1 | g.94031099C>G | CA341286424 | ABCA4 | c.4150G>C (p.Val1384Leu) c.526G>C (p.Val176Leu) | dbSNP |
| 1 | g.94031099C>T | CA341286425 | ABCA4 | c.4150G>A (p.Val1384Met) c.526G>A (p.Val176Met) | |
| 1 | g.94031100A>C | CA341286429 | ABCA4 | c.4149T>G (p.Phe1383Leu) c.525T>G (p.Phe175Leu) | |
| 1 | g.94031100A>G | CA418825152 | ABCA4 | c.4149T>C (p.Phe1383=) c.525T>C (p.Phe175=) | |
| 1 | g.94031100A>T | CA341286427 | ABCA4 | c.4149T>A (p.Phe1383Leu) c.525T>A (p.Phe175Leu) | |
| 1 | g.94031101A>C | CA341286436 | ABCA4 | c.4148T>G (p.Phe1383Cys) c.524T>G (p.Phe175Cys) | |
| 1 | g.94031101A>G | CA341286438 | ABCA4 | c.4148T>C (p.Phe1383Ser) c.524T>C (p.Phe175Ser) | |
| 1 | g.94031101A>T | CA341286441 | ABCA4 | c.4148T>A (p.Phe1383Tyr) c.524T>A (p.Phe175Tyr) | |
| 1 | g.94031101_94031102insCCAAACACACCCAACAC | CA2744616667 | ABCA4 | c.4147_4148insGTGTTGGGTGTGTTTGG (p.Phe1383CysfsTer12) c.523_524insGTGTTGGGTGTGTTTGG (p.Phe175CysfsTer12) | |
| 1 | g.94031102A>C | CA341286443 | ABCA4 | c.4147T>G (p.Phe1383Val) c.523T>G (p.Phe175Val) | |
| 1 | g.94031102A>G | CA341286445 | ABCA4 | c.4147T>C (p.Phe1383Leu) c.523T>C (p.Phe175Leu) | |
| 1 | g.94031102A>T | CA341286447 | ABCA4 | c.4147T>A (p.Phe1383Ile) c.523T>A (p.Phe175Ile) | gnomAD v4 |
| 1 | g.94031103G>A | CA957698 | ABCA4 | c.4146C>T (p.Thr1382=) c.522C>T (p.Thr174=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031103G>C | CA418825153 | ABCA4 | c.4146C>G (p.Thr1382=) c.522C>G (p.Thr174=) | |
| 1 | g.94031103G= | CA1181415184 | ABCA4 | c.4146C= (p.Thr1382=) c.522C= (p.Thr174=) | |
| 1 | g.94031103G>T | CA418825154 | ABCA4 | c.4146C>A (p.Thr1382=) c.522C>A (p.Thr174=) | |
| 1 | g.94031104G>A | CA341286450 | ABCA4 | c.4145C>T (p.Thr1382Ile) c.521C>T (p.Thr174Ile) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94031104G>C | CA341286454 | ABCA4 | c.4145C>G (p.Thr1382Ser) c.521C>G (p.Thr174Ser) | |
| 1 | g.94031104G= | CA1181415185 | ABCA4 | c.4145C= (p.Thr1382=) c.521C= (p.Thr174=) | |
| 1 | g.94031104G>T | CA341286457 | ABCA4 | c.4145C>A (p.Thr1382Asn) c.521C>A (p.Thr174Asn) | |
| 1 | g.94031105T>A | CA341286460 | ABCA4 | c.4144A>T (p.Thr1382Ser) c.520A>T (p.Thr174Ser) | |
| 1 | g.94031105T>C | CA341286462 | ABCA4 | c.4144A>G (p.Thr1382Ala) c.520A>G (p.Thr174Ala) | |
| 1 | g.94031105T>G | CA341286464 | ABCA4 | c.4144A>C (p.Thr1382Pro) c.520A>C (p.Thr174Pro) | |
| 1 | g.94031106A>C | CA418825156 | ABCA4 | c.4143T>G (p.Ala1381=) c.519T>G (p.Ala173=) | |
| 1 | g.94031106A>G | CA418825157 | ABCA4 | c.4143T>C (p.Ala1381=) c.519T>C (p.Ala173=) | |
| 1 | g.94031106A>T | CA418825158 | ABCA4 | c.4143T>A (p.Ala1381=) c.519T>A (p.Ala173=) | |
| 1 | g.94031107G>A | CA341286466 | ABCA4 | c.4142C>T (p.Ala1381Val) c.518C>T (p.Ala173Val) | dbSNP gnomAD v4 |
| 1 | g.94031107G>C | CA341286465 | ABCA4 | c.4142C>G (p.Ala1381Gly) c.518C>G (p.Ala173Gly) | |
| 1 | g.94031107G= | CA1145444673 | ABCA4 | c.4142C= (p.Ala1381=) c.518C= (p.Ala173=) | |
| 1 | g.94031107G>T | CA957699 | ABCA4 | c.4142C>A (p.Ala1381Asp) c.518C>A (p.Ala173Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031108C>A | CA341286469 | ABCA4 | c.4141G>T (p.Ala1381Ser) c.517G>T (p.Ala173Ser) | |
| 1 | g.94031108C>G | CA341286471 | ABCA4 | c.4141G>C (p.Ala1381Pro) c.517G>C (p.Ala173Pro) | |
| 1 | g.94031108C>T | CA341286470 | ABCA4 | c.4141G>A (p.Ala1381Thr) c.517G>A (p.Ala173Thr) | |
| 1 | g.94031109C>A | CA418825159 | ABCA4 | c.4140G>T (p.Pro1380=) c.516G>T (p.Pro172=) | ClinVar gnomAD v4 |
| 1 | g.94031109C= | CA1141659390 | ABCA4 | c.4140G= (p.Pro1380=) c.516G= (p.Pro172=) | |
| 1 | g.94031109C>G | CA418825160 | ABCA4 | c.4140G>C (p.Pro1380=) c.516G>C (p.Pro172=) | |
| 1 | g.94031109C>T | CA957700 | ABCA4 | c.4140G>A (p.Pro1380=) c.516G>A (p.Pro172=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031109_94031110delinsCG | CA1181415186 | ABCA4 | c.4139_4140delinsCG (p.Pro1380=) c.515_516delinsCG (p.Pro172=) | |
| 1 | g.94031110G>A | CA129033 | ABCA4 | c.4139C>T (p.Pro1380Leu) c.515C>T (p.Pro172Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031110G>C | CA341286474 | ABCA4 | c.4139C>G (p.Pro1380Arg) c.515C>G (p.Pro172Arg) | |
| 1 | g.94031110G= | CA1140726180 | ABCA4 | c.4139C= (p.Pro1380=) c.515C= (p.Pro172=) | |
| 1 | g.94031110G>T | CA341286478 | ABCA4 | c.4139C>A (p.Pro1380Gln) c.515C>A (p.Pro172Gln) | |
| 1 | g.94031112del | CA957701 | ABCA4 | c.4139del (p.Pro1380ArgfsTer9) c.515del (p.Pro172ArgfsTer9) | dbSNP ExAC |
| 1 | g.94031111G>A | CA341286482 | ABCA4 | c.4138C>T (p.Pro1380Ser) c.514C>T (p.Pro172Ser) | |
| 1 | g.94031111G>C | CA341286484 | ABCA4 | c.4138C>G (p.Pro1380Ala) c.514C>G (p.Pro172Ala) | |
| 1 | g.94031111G>T | CA341286488 | ABCA4 | c.4138C>A (p.Pro1380Thr) c.514C>A (p.Pro172Thr) | |
| 1 | g.94031112G>A | CA418825161 | ABCA4 | c.4137C>T (p.Leu1379=) c.513C>T (p.Leu171=) | COSMIC |
| 1 | g.94031112G>C | CA418825162 | ABCA4 | c.4137C>G (p.Leu1379=) c.513C>G (p.Leu171=) | gnomAD v4 |
| 1 | g.94031112G>T | CA418825163 | ABCA4 | c.4137C>A (p.Leu1379=) c.513C>A (p.Leu171=) | |
| 1 | g.94031113A= | CA1181415187 | ABCA4 | c.4136T= (p.Leu1379=) c.512T= (p.Leu171=) | |
| 1 | g.94031113A>C | CA341286490 | ABCA4 | c.4136T>G (p.Leu1379Arg) c.512T>G (p.Leu171Arg) | |
| 1 | g.94031113A>G | CA341286491 | ABCA4 | c.4136T>C (p.Leu1379Pro) c.512T>C (p.Leu171Pro) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94031113A>T | CA341286492 | ABCA4 | c.4136T>A (p.Leu1379His) c.512T>A (p.Leu171His) | |
| 1 | g.94031114G>A | CA341286495 | ABCA4 | c.4135C>T (p.Leu1379Phe) c.511C>T (p.Leu171Phe) | |
| 1 | g.94031114G>C | CA341286496 | ABCA4 | c.4135C>G (p.Leu1379Val) c.511C>G (p.Leu171Val) | |
| 1 | g.94031114G>T | CA341286503 | ABCA4 | c.4135C>A (p.Leu1379Ile) c.511C>A (p.Leu171Ile) | |
| 1 | g.94031115C>A | CA418825166 | ABCA4 | c.4134G>T (p.Val1378=) c.510G>T (p.Val170=) | |
| 1 | g.94031115C= | CA1181415188 | ABCA4 | c.4134G= (p.Val1378=) c.510G= (p.Val170=) | |
| 1 | g.94031115C>G | CA418825165 | ABCA4 | c.4134G>C (p.Val1378=) c.510G>C (p.Val170=) | |
| 1 | g.94031115C>T | CA418825164 | ABCA4 | c.4134G>A (p.Val1378=) c.510G>A (p.Val170=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94031116A= | CA1181415189 | ABCA4 | c.4133T= (p.Val1378=) c.509T= (p.Val170=) | |
| 1 | g.94031116A>C | CA341286510 | ABCA4 | c.4133T>G (p.Val1378Gly) c.509T>G (p.Val170Gly) | |
| 1 | g.94031116A>G | CA341286506 | ABCA4 | c.4133T>C (p.Val1378Ala) c.509T>C (p.Val170Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94031116A>T | CA341286508 | ABCA4 | c.4133T>A (p.Val1378Glu) c.509T>A (p.Val170Glu) | |
| 1 | g.94031117C>A | CA341286514 | ABCA4 | c.4132G>T (p.Val1378Leu) c.508G>T (p.Val170Leu) | |
| 1 | g.94031117C= | CA1181415190 | ABCA4 | c.4132G= (p.Val1378=) c.508G= (p.Val170=) | |
| 1 | g.94031117C>G | CA341286516 | ABCA4 | c.4132G>C (p.Val1378Leu) c.508G>C (p.Val170Leu) | gnomAD v4 |
| 1 | g.94031117C>T | CA957702 | ABCA4 | c.4132G>A (p.Val1378Met) c.508G>A (p.Val170Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031117_94031118insA | CA2744616668 | ABCA4 | c.4131_4132insT (p.Val1378CysfsTer?) c.507_508insT (p.Val170CysfsTer?) | |
| 1 | g.94031118G>A | CA957704 | ABCA4 | c.4131C>T (p.Ile1377=) c.507C>T (p.Ile169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031118G>C | CA957703 | ABCA4 | c.4131C>G (p.Ile1377Met) c.507C>G (p.Ile169Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031118G= | CA1142069319 | ABCA4 | c.4131C= (p.Ile1377=) c.507C= (p.Ile169=) | |
| 1 | g.94031118G>T | CA418825168 | ABCA4 | c.4131C>A (p.Ile1377=) c.507C>A (p.Ile169=) | ClinVar dbSNP |
| 1 | g.94031119A>C | CA341286525 | ABCA4 | c.4130T>G (p.Ile1377Ser) c.506T>G (p.Ile169Ser) | |
| 1 | g.94031119A>G | CA341286527 | ABCA4 | c.4130T>C (p.Ile1377Thr) c.506T>C (p.Ile169Thr) | |
| 1 | g.94031119A>T | CA341286528 | ABCA4 | c.4130T>A (p.Ile1377Asn) c.506T>A (p.Ile169Asn) | |
| 1 | g.94031120T>A | CA341286531 | ABCA4 | c.4129A>T (p.Ile1377Phe) c.505A>T (p.Ile169Phe) | ClinVar |
| 1 | g.94031120T>C | CA341286534 | ABCA4 | c.4129A>G (p.Ile1377Val) c.505A>G (p.Ile169Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94031120T>G | CA341286536 | ABCA4 | c.4129A>C (p.Ile1377Leu) c.505A>C (p.Ile169Leu) | |
| 1 | g.94031120T= | CA1181415191 | ABCA4 | c.4129A= (p.Ile1377=) c.505A= (p.Ile169=) | |
| 1 | g.94031121C>A | CA341286548 | ABCA4 | c.4129-1G>T (n.4129-1G>T) c.505-1G>T (n.505-1G>T) | |
| 1 | g.94031121C= | CA1181415192 | ABCA4 | c.4129-1G= (n.4129-1G=) c.505-1G= (n.505-1G=) | |
| 1 | g.94031121C>G | CA341286542 | ABCA4 | c.4129-1G>C (n.4129-1G>C) c.505-1G>C (n.505-1G>C) | COSMIC |
| 1 | g.94031121C>T | CA341286539 | ABCA4 | c.4129-1G>A (n.4129-1G>A) c.505-1G>A (n.505-1G>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94031122T>A | CA341286551 | ABCA4 | c.4129-2A>T (n.4129-2A>T) c.505-2A>T (n.505-2A>T) | |
| 1 | g.94031122T>C | CA341286552 | ABCA4 | c.4129-2A>G (n.4129-2A>G) c.505-2A>G (n.505-2A>G) | |
| 1 | g.94031122T>G | CA341286562 | ABCA4 | c.4129-2A>C (n.4129-2A>C) c.505-2A>C (n.505-2A>C) | |
| 1 | g.94031123G>A | CA2586966899 | ABCA4 | c.4129-3C>T (n.4129-3C>T) c.505-3C>T (n.505-3C>T) | |
| 1 | g.94031123G>T | CA2586966900 | ABCA4 | c.4129-3C>A (n.4129-3C>A) c.505-3C>A (n.505-3C>A) | |
| 1 | g.94031124T>C | CA2646649758 | ABCA4 | c.4129-4A>G (n.4129-4A>G) c.505-4A>G (n.505-4A>G) | gnomAD v4 |
| 1 | g.94031125G>A | CA2646649762 | ABCA4 | c.4129-5C>T (n.4129-5C>T) c.505-5C>T (n.505-5C>T) | gnomAD v4 |
| 1 | g.94031127dup | CA2646649761 | ABCA4 | c.4129-5dup (n.4129-5dup) c.505-5dup (n.505-5dup) | gnomAD v4 |
| 1 | g.94031127G>A | CA26854992 | ABCA4 | c.4129-7C>T (n.4129-7C>T) c.505-7C>T (n.505-7C>T) | dbSNP |
| 1 | g.94031127G= | CA1181415193 | ABCA4 | c.4129-7C= (n.4129-7C=) c.505-7C= (n.505-7C=) | |
| 1 | g.94031129G>A | CA957705 | ABCA4 | c.4129-9C>T (n.4129-9C>T) c.505-9C>T (n.505-9C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94031129G= | CA1181415194 | ABCA4 | c.4129-9C= (n.4129-9C=) c.505-9C= (n.505-9C=) | |
| 1 | g.94031129G>T | CA2739272720 | ABCA4 | c.4129-9C>A (n.4129-9C>A) c.505-9C>A (n.505-9C>A) | ClinVar |
| 1 | g.94031132T>C | CA26854999 | ABCA4 | c.4129-12A>G (n.4129-12A>G) c.505-12A>G (n.505-12A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94031132T= | CA1143774229 | ABCA4 | c.4129-12A= (n.4129-12A=) c.505-12A= (n.505-12A=) | |
| 1 | g.94031134G>A | CA2697552496 | ABCA4 | c.4129-14C>T (n.4129-14C>T) c.505-14C>T (n.505-14C>T) | ClinVar |
| 1 | g.94031134G>T | CA2697552497 | ABCA4 | c.4129-14C>A (n.4129-14C>A) c.505-14C>A (n.505-14C>A) | ClinVar |