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.94021385G>A | CA341283189 | ABCA4 | c.4873C>T (p.His1625Tyr) n.367C>T c.1249C>T (p.His417Tyr) | ClinVar dbSNP |
| 1 | g.94021385G>C | CA341283188 | ABCA4 | c.4873C>G (p.His1625Asp) n.367C>G c.1249C>G (p.His417Asp) | |
| 1 | g.94021385G= | CA1181408254 | ABCA4 | c.4873C= (p.His1625=) n.367C= c.1249C= (p.His417=) | |
| 1 | g.94021385G>T | CA341283187 | ABCA4 | c.4873C>A (p.His1625Asn) n.367C>A c.1249C>A (p.His417Asn) | |
| 1 | g.94021386C>A | CA341283190 | ABCA4 | c.4872G>T (p.Trp1624Cys) n.366G>T c.1248G>T (p.Trp416Cys) | |
| 1 | g.94021386C>G | CA341283191 | ABCA4 | c.4872G>C (p.Trp1624Cys) n.366G>C c.1248G>C (p.Trp416Cys) | |
| 1 | g.94021386C>T | CA341283192 | ABCA4 | c.4872G>A (p.Trp1624Ter) n.366G>A c.1248G>A (p.Trp416Ter) | ClinVar dbSNP COSMIC |
| 1 | g.94021387C>A | CA341283193 | ABCA4 | c.4871G>T (p.Trp1624Leu) n.365G>T c.1247G>T (p.Trp416Leu) | |
| 1 | g.94021387C>G | CA341283194 | ABCA4 | c.4871G>C (p.Trp1624Ser) n.365G>C c.1247G>C (p.Trp416Ser) | |
| 1 | g.94021387C>T | CA341283195 | ABCA4 | c.4871G>A (p.Trp1624Ter) n.365G>A c.1247G>A (p.Trp416Ter) | |
| 1 | g.94021388A>C | CA341283196 | ABCA4 | c.4870T>G (p.Trp1624Gly) n.364T>G c.1246T>G (p.Trp416Gly) | |
| 1 | g.94021388A>G | CA341283197 | ABCA4 | c.4870T>C (p.Trp1624Arg) n.364T>C c.1246T>C (p.Trp416Arg) | |
| 1 | g.94021388A>T | CA341283198 | ABCA4 | c.4870T>A (p.Trp1624Arg) n.364T>A c.1246T>A (p.Trp416Arg) | |
| 1 | g.94021388_94021389delinsCC | CA2580063560 | ABCA4 | c.4869_4870delinsGG (p.Trp1624Gly) n.363_364delinsGG c.1245_1246delinsGG (p.Trp416Gly) | ClinVar |
| 1 | g.94021389G>A | CA957435 | ABCA4 | c.4869C>T (p.Gly1623=) n.363C>T c.1245C>T (p.Gly415=) | dbSNP ExAC gnomAD v2 |
| 1 | g.94021389G>C | CA418821756 | ABCA4 | c.4869C>G (p.Gly1623=) n.363C>G c.1245C>G (p.Gly415=) | |
| 1 | g.94021389G= | CA1181408257 | ABCA4 | c.4869C= (p.Gly1623=) n.363C= c.1245C= (p.Gly415=) | |
| 1 | g.94021389G>T | CA418821757 | ABCA4 | c.4869C>A (p.Gly1623=) n.363C>A c.1245C>A (p.Gly415=) | |
| 1 | g.94021390C>A | CA341283199 | ABCA4 | c.4868G>T (p.Gly1623Val) n.362G>T c.1244G>T (p.Gly415Val) | ClinVar dbSNP |
| 1 | g.94021390C= | CA1181408259 | ABCA4 | c.4868G= (p.Gly1623=) n.362G= c.1244G= (p.Gly415=) | |
| 1 | g.94021390C>G | CA341283200 | ABCA4 | c.4868G>C (p.Gly1623Ala) n.362G>C c.1244G>C (p.Gly415Ala) | |
| 1 | g.94021390C>T | CA341283201 | ABCA4 | c.4868G>A (p.Gly1623Asp) n.362G>A c.1244G>A (p.Gly415Asp) | gnomAD v4 |
| 1 | g.94021391C>A | CA341283203 | ABCA4 | c.4867G>T (p.Gly1623Cys) n.361G>T c.1243G>T (p.Gly415Cys) | |
| 1 | g.94021391C= | CA1140725962 | ABCA4 | c.4867G= (p.Gly1623=) n.361G= c.1243G= (p.Gly415=) | |
| 1 | g.94021391C>G | CA341283202 | ABCA4 | c.4867G>C (p.Gly1623Arg) n.361G>C c.1243G>C (p.Gly415Arg) | |
| 1 | g.94021391C>T | CA227246 | ABCA4 | c.4867G>A (p.Gly1623Ser) n.361G>A c.1243G>A (p.Gly415Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94021392T>A | CA341283204 | ABCA4 | c.4866A>T (p.Lys1622Asn) n.360A>T c.1242A>T (p.Lys414Asn) | |
| 1 | g.94021392T>C | CA418821758 | ABCA4 | c.4866A>G (p.Lys1622=) n.360A>G c.1242A>G (p.Lys414=) | |
| 1 | g.94021392T>G | CA341283205 | ABCA4 | c.4866A>C (p.Lys1622Asn) n.360A>C c.1242A>C (p.Lys414Asn) | |
| 1 | g.94021393T>A | CA341283206 | ABCA4 | c.4865A>T (p.Lys1622Ile) n.359A>T c.1241A>T (p.Lys414Ile) | |
| 1 | g.94021393T>C | CA341283208 | ABCA4 | c.4865A>G (p.Lys1622Arg) n.359A>G c.1241A>G (p.Lys414Arg) | |
| 1 | g.94021393T>G | CA341283207 | ABCA4 | c.4865A>C (p.Lys1622Thr) n.359A>C c.1241A>C (p.Lys414Thr) | |
| 1 | g.94021394T>A | CA341283209 | ABCA4 | c.4864A>T (p.Lys1622Ter) n.358A>T c.1240A>T (p.Lys414Ter) | gnomAD v4 |
| 1 | g.94021394T>C | CA341283210 | ABCA4 | c.4864A>G (p.Lys1622Glu) n.358A>G c.1240A>G (p.Lys414Glu) | ClinVar dbSNP |
| 1 | g.94021394T>G | CA341283211 | ABCA4 | c.4864A>C (p.Lys1622Gln) n.358A>C c.1240A>C (p.Lys414Gln) | |
| 1 | g.94021394_94021399delinsAGGA | CA645372233 | ABCA4 | c.4859_4864delinsTCCT (p.Asn1620IlefsTer25) n.353_358delinsTCCT c.1235_1240delinsTCCT (p.Asn412IlefsTer25) | |
| 1 | g.94021395G>A | CA418821759 | ABCA4 | c.4863C>T (p.Asn1621=) n.357C>T c.1239C>T (p.Asn413=) | |
| 1 | g.94021395G>C | CA341283212 | ABCA4 | c.4863C>G (p.Asn1621Lys) n.357C>G c.1239C>G (p.Asn413Lys) | |
| 1 | g.94021395G>T | CA341283213 | ABCA4 | c.4863C>A (p.Asn1621Lys) n.357C>A c.1239C>A (p.Asn413Lys) | |
| 1 | g.94021396T>A | CA341283214 | ABCA4 | c.4862A>T (p.Asn1621Ile) n.356A>T c.1238A>T (p.Asn413Ile) | |
| 1 | g.94021396T>C | CA341283215 | ABCA4 | c.4862A>G (p.Asn1621Ser) n.356A>G c.1238A>G (p.Asn413Ser) | |
| 1 | g.94021396T>G | CA341283216 | ABCA4 | c.4862A>C (p.Asn1621Thr) n.356A>C c.1238A>C (p.Asn413Thr) | |
| 1 | g.94021397del | CA2646647346 | ABCA4 | c.4862del (p.Asn1621ThrfsTer?) n.356del c.1238del (p.Asn413ThrfsTer?) | gnomAD v4 |
| 1 | g.94021397T>A | CA957436 | ABCA4 | c.4861A>T (p.Asn1621Tyr) n.355A>T c.1237A>T (p.Asn413Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021397T>C | CA341283217 | ABCA4 | c.4861A>G (p.Asn1621Asp) n.355A>G c.1237A>G (p.Asn413Asp) | |
| 1 | g.94021397T>G | CA341283218 | ABCA4 | c.4861A>C (p.Asn1621His) n.355A>C c.1237A>C (p.Asn413His) | gnomAD v4 |
| 1 | g.94021397T= | CA1181408267 | ABCA4 | c.4861A= (p.Asn1621=) n.355A= c.1237A= (p.Asn413=) | |
| 1 | g.94021398A= | CA1181408269 | ABCA4 | c.4860T= (p.Asn1620=) n.354T= c.1236T= (p.Asn412=) | |
| 1 | g.94021398A>C | CA957437 | ABCA4 | c.4860T>G (p.Asn1620Lys) n.354T>G c.1236T>G (p.Asn412Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021398A>G | CA418821760 | ABCA4 | c.4860T>C (p.Asn1620=) n.354T>C c.1236T>C (p.Asn412=) |