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 |
|---|---|---|---|---|---|
| X | g.154367878G>A | CA234009 | FLNA | c.586C>T (p.Arg196Trp) c.505C>T (p.Arg169Trp) c.544C>T (p.Arg182Trp) | ClinVar dbSNP |
| X | g.154367878G>C | CA415249125 | FLNA | c.586C>G (p.Arg196Gly) c.505C>G (p.Arg169Gly) c.544C>G (p.Arg182Gly) | |
| X | g.154367878G= | CA2466659055 | FLNA | c.586C= (p.Arg196=) c.505C= (p.Arg169=) c.544C= (p.Arg182=) | |
| X | g.154367878G>T | CA519709937 | FLNA | c.586C>A (p.Arg196=) c.505C>A (p.Arg169=) c.544C>A (p.Arg182=) | |
| X | g.154367879G>A | CA519709940 | FLNA | c.585C>T (p.Gly195=) c.504C>T (p.Gly168=) c.543C>T (p.Gly181=) | |
| X | g.154367879G>C | CA519709939 | FLNA | c.585C>G (p.Gly195=) c.504C>G (p.Gly168=) c.543C>G (p.Gly181=) | |
| X | g.154367879G>T | CA519709938 | FLNA | c.585C>A (p.Gly195=) c.504C>A (p.Gly168=) c.543C>A (p.Gly181=) | |
| X | g.154367880C>A | CA415249129 | FLNA | c.584G>T (p.Gly195Val) c.503G>T (p.Gly168Val) c.542G>T (p.Gly181Val) | |
| X | g.154367880C>G | CA415249131 | FLNA | c.584G>C (p.Gly195Ala) c.503G>C (p.Gly168Ala) c.542G>C (p.Gly181Ala) | |
| X | g.154367880C>T | CA415249133 | FLNA | c.584G>A (p.Gly195Asp) c.503G>A (p.Gly168Asp) c.542G>A (p.Gly181Asp) | |
| X | g.154367881C>A | CA415249138 | FLNA | c.583G>T (p.Gly195Cys) c.502G>T (p.Gly168Cys) c.541G>T (p.Gly181Cys) | |
| X | g.154367881C>G | CA415249143 | FLNA | c.583G>C (p.Gly195Arg) c.502G>C (p.Gly168Arg) c.541G>C (p.Gly181Arg) | |
| X | g.154367881C>T | CA415249140 | FLNA | c.583G>A (p.Gly195Ser) c.502G>A (p.Gly168Ser) c.541G>A (p.Gly181Ser) | |
| X | g.154367882G>A | CA519709942 | FLNA | c.582C>T (p.Ser194=) c.501C>T (p.Ser167=) c.540C>T (p.Ser180=) | ClinVar dbSNP gnomAD v4 |
| X | g.154367882G>C | CA415249145 | FLNA | c.582C>G (p.Ser194Arg) c.501C>G (p.Ser167Arg) c.540C>G (p.Ser180Arg) | |
| X | g.154367882G= | CA2466659056 | FLNA | c.582C= (p.Ser194=) c.501C= (p.Ser167=) c.540C= (p.Ser180=) | |
| X | g.154367882G>T | CA415249146 | FLNA | c.582C>A (p.Ser194Arg) c.501C>A (p.Ser167Arg) c.540C>A (p.Ser180Arg) | |
| X | g.154367883C>A | CA415249148 | FLNA | c.581G>T (p.Ser194Ile) c.500G>T (p.Ser167Ile) c.539G>T (p.Ser180Ile) | |
| X | g.154367883C= | CA2466659057 | FLNA | c.581G= (p.Ser194=) c.500G= (p.Ser167=) c.539G= (p.Ser180=) | |
| X | g.154367883C>G | CA415249151 | FLNA | c.581G>C (p.Ser194Thr) c.500G>C (p.Ser167Thr) c.539G>C (p.Ser180Thr) | |
| X | g.154367883C>T | CA415249154 | FLNA | c.581G>A (p.Ser194Asn) c.500G>A (p.Ser167Asn) c.539G>A (p.Ser180Asn) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154367884T>A | CA415249159 | FLNA | c.580A>T (p.Ser194Cys) c.499A>T (p.Ser167Cys) c.538A>T (p.Ser180Cys) | |
| X | g.154367884T>C | CA415249161 | FLNA | c.580A>G (p.Ser194Gly) c.499A>G (p.Ser167Gly) c.538A>G (p.Ser180Gly) | |
| X | g.154367884T>G | CA415249163 | FLNA | c.580A>C (p.Ser194Arg) c.499A>C (p.Ser167Arg) c.538A>C (p.Ser180Arg) | |
| X | g.154367885C>A | CA415249166 | FLNA | c.579G>T (p.Gln193His) c.498G>T (p.Gln166His) c.537G>T (p.Gln179His) | |
| X | g.154367885C>G | CA415249168 | FLNA | c.579G>C (p.Gln193His) c.498G>C (p.Gln166His) c.537G>C (p.Gln179His) | |
| X | g.154367885C>T | CA519709945 | FLNA | c.579G>A (p.Gln193=) c.498G>A (p.Gln166=) c.537G>A (p.Gln179=) | gnomAD v4 |
| X | g.154367886T>A | CA415249175 | FLNA | c.578A>T (p.Gln193Leu) c.497A>T (p.Gln166Leu) c.536A>T (p.Gln179Leu) | |
| X | g.154367886T>C | CA415249173 | FLNA | c.578A>G (p.Gln193Arg) c.497A>G (p.Gln166Arg) c.536A>G (p.Gln179Arg) | |
| X | g.154367886T>G | CA415249172 | FLNA | c.578A>C (p.Gln193Pro) c.497A>C (p.Gln166Pro) c.536A>C (p.Gln179Pro) | |
| X | g.154367887G>A | CA415249180 | FLNA | c.577C>T (p.Gln193Ter) c.496C>T (p.Gln166Ter) c.535C>T (p.Gln179Ter) | ClinVar dbSNP |
| X | g.154367887G>C | CA415249182 | FLNA | c.577C>G (p.Gln193Glu) c.496C>G (p.Gln166Glu) c.535C>G (p.Gln179Glu) | |
| X | g.154367887G>T | CA415249183 | FLNA | c.577C>A (p.Gln193Lys) c.496C>A (p.Gln166Lys) c.535C>A (p.Gln179Lys) | |
| X | g.154367888C>A | CA415249185 | FLNA | c.576G>T (p.Trp192Cys) c.495G>T (p.Trp165Cys) c.534G>T (p.Trp178Cys) | |
| X | g.154367888C= | CA2466659058 | FLNA | c.576G= (p.Trp192=) c.495G= (p.Trp165=) c.534G= (p.Trp178=) | |
| X | g.154367888C>G | CA415249187 | FLNA | c.576G>C (p.Trp192Cys) c.495G>C (p.Trp165Cys) c.534G>C (p.Trp178Cys) | |
| X | g.154367888C>T | CA337284394 | FLNA | c.576G>A (p.Trp192Ter) c.495G>A (p.Trp165Ter) c.534G>A (p.Trp178Ter) | dbSNP |
| X | g.154367889C>A | CA415249191 | FLNA | c.575G>T (p.Trp192Leu) c.494G>T (p.Trp165Leu) c.533G>T (p.Trp178Leu) | |
| X | g.154367889C>G | CA415249194 | FLNA | c.575G>C (p.Trp192Ser) c.494G>C (p.Trp165Ser) c.533G>C (p.Trp178Ser) | |
| X | g.154367889C>T | CA415249196 | FLNA | c.575G>A (p.Trp192Ter) c.494G>A (p.Trp165Ter) c.533G>A (p.Trp178Ter) | |
| X | g.154367890A>C | CA415249199 | FLNA | c.574T>G (p.Trp192Gly) c.493T>G (p.Trp165Gly) c.532T>G (p.Trp178Gly) | |
| X | g.154367890A>G | CA415249201 | FLNA | c.574T>C (p.Trp192Arg) c.493T>C (p.Trp165Arg) c.532T>C (p.Trp178Arg) | |
| X | g.154367890A>T | CA415249204 | FLNA | c.574T>A (p.Trp192Arg) c.493T>A (p.Trp165Arg) c.532T>A (p.Trp178Arg) | |
| X | g.154367891G>A | CA519709949 | FLNA | c.573C>T (p.Asp191=) c.492C>T (p.Asp164=) c.531C>T (p.Asp177=) | |
| X | g.154367891G>C | CA415249207 | FLNA | c.573C>G (p.Asp191Glu) c.492C>G (p.Asp164Glu) c.531C>G (p.Asp177Glu) | |
| X | g.154367891G>T | CA415249217 | FLNA | c.573C>A (p.Asp191Glu) c.492C>A (p.Asp164Glu) c.531C>A (p.Asp177Glu) | |
| X | g.154367892T>A | CA415249221 | FLNA | c.572A>T (p.Asp191Val) c.491A>T (p.Asp164Val) c.530A>T (p.Asp177Val) | |
| X | g.154367892T>C | CA415249228 | FLNA | c.572A>G (p.Asp191Gly) c.491A>G (p.Asp164Gly) c.530A>G (p.Asp177Gly) | |
| X | g.154367892T>G | CA415249224 | FLNA | c.572A>C (p.Asp191Ala) c.491A>C (p.Asp164Ala) c.530A>C (p.Asp177Ala) | |
| X | g.154367893C>A | CA415249231 | FLNA | c.571G>T (p.Asp191Tyr) c.490G>T (p.Asp164Tyr) c.529G>T (p.Asp177Tyr) | ClinVar dbSNP |