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 |
|---|---|---|---|---|---|
| 4 | g.78265046C>A | CA357353732 | FRAS1 | c.625C>A (p.Pro209Thr) n.945C>A c.411C>A c.152C>A | |
| 4 | g.78265046C= | CA1470450735 | FRAS1 | c.625C= (p.Pro209=) n.945C= c.411C= c.152C= | |
| 4 | g.78265046C>G | CA357353729 | FRAS1 | c.625C>G (p.Pro209Ala) n.945C>G c.411C>G c.152C>G | |
| 4 | g.78265046C>T | CA2976028 | FRAS1 | c.625C>T (p.Pro209Ser) n.945C>T c.411C>T c.152C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.78265047C>A | CA357353735 | FRAS1 | c.626C>A (p.Pro209His) n.946C>A c.412C>A c.153C>A | |
| 4 | g.78265047C>G | CA357353736 | FRAS1 | c.626C>G (p.Pro209Arg) n.946C>G c.412C>G c.153C>G | |
| 4 | g.78265047C>T | CA357353738 | FRAS1 | c.626C>T (p.Pro209Leu) n.946C>T c.412C>T c.153C>T | |
| 4 | g.78265048T>A | CA439978097 | FRAS1 | c.627T>A (p.Pro209=) n.947T>A c.413T>A c.154T>A | |
| 4 | g.78265048T>C | CA439978099 | FRAS1 | c.627T>C (p.Pro209=) n.947T>C c.413T>C c.154T>C | dbSNP |
| 4 | g.78265048T>G | CA439978095 | FRAS1 | c.627T>G (p.Pro209=) n.947T>G c.413T>G c.154T>G | |
| 4 | g.78265048T= | CA1470450741 | FRAS1 | c.627T= (p.Pro209=) n.947T= c.413T= c.154T= | |
| 4 | g.78265049G>A | CA357353740 | FRAS1 | c.628G>A (p.Gly210Arg) n.948G>A c.414G>A c.155G>A | |
| 4 | g.78265049G>C | CA357353743 | FRAS1 | c.628G>C (p.Gly210Arg) n.948G>C c.414G>C c.155G>C | |
| 4 | g.78265049G>T | CA357353744 | FRAS1 | c.628G>T (p.Gly210Ter) n.948G>T c.414G>T c.155G>T | |
| 4 | g.78265050del | CA2671129624 | FRAS1 | c.629del (p.Gly210GlufsTer?) n.949del c.415del c.156del | gnomAD v4 |
| 4 | g.78265050G>A | CA357353746 | FRAS1 | c.629G>A (p.Gly210Glu) n.949G>A c.415G>A c.156G>A | |
| 4 | g.78265050G>C | CA99948426 | FRAS1 | c.629G>C (p.Gly210Ala) n.949G>C c.415G>C c.156G>C | dbSNP |
| 4 | g.78265050G= | CA1470450748 | FRAS1 | c.629G= (p.Gly210=) n.949G= c.415G= c.156G= | |
| 4 | g.78265050G>T | CA357353748 | FRAS1 | c.629G>T (p.Gly210Val) n.949G>T c.415G>T c.156G>T | |
| 4 | g.78265051A>C | CA439978111 | FRAS1 | c.630A>C (p.Gly210=) n.950A>C c.416A>C c.157A>C | |
| 4 | g.78265051A>G | CA439978107 | FRAS1 | c.630A>G (p.Gly210=) n.950A>G c.416A>G c.157A>G | |
| 4 | g.78265051A>T | CA439978109 | FRAS1 | c.630A>T (p.Gly210=) n.950A>T c.416A>T c.157A>T | |
| 4 | g.78265054del | CA2578189451 | FRAS1 | c.633del (p.Lys211AsnfsTer?) n.953del c.419del c.160del | gnomAD v4 |
| 4 | g.78265052A>C | CA357353749 | FRAS1 | c.631A>C (p.Lys211Gln) n.951A>C c.417A>C c.158A>C | |
| 4 | g.78265052A>G | CA357353750 | FRAS1 | c.631A>G (p.Lys211Glu) n.951A>G c.417A>G c.158A>G | |
| 4 | g.78265052A>T | CA357353752 | FRAS1 | c.631A>T (p.Lys211Ter) n.951A>T c.417A>T c.158A>T | |
| 4 | g.78265053A>C | CA357353755 | FRAS1 | c.632A>C (p.Lys211Thr) n.952A>C c.418A>C c.159A>C | |
| 4 | g.78265053A>G | CA357353754 | FRAS1 | c.632A>G (p.Lys211Arg) n.952A>G c.418A>G c.159A>G | |
| 4 | g.78265053A>T | CA357353753 | FRAS1 | c.632A>T (p.Lys211Ile) n.952A>T c.418A>T c.159A>T | |
| 4 | g.78265054A= | CA1470450751 | FRAS1 | c.633A= (p.Lys211=) n.953A= c.419A= c.160A= | |
| 4 | g.78265054A>C | CA2976029 | FRAS1 | c.633A>C (p.Lys211Asn) n.953A>C c.419A>C c.160A>C | dbSNP ExAC gnomAD v2 |
| 4 | g.78265054A>G | CA439978123 | FRAS1 | c.633A>G (p.Lys211=) n.953A>G c.419A>G c.160A>G | |
| 4 | g.78265054A>T | CA357353756 | FRAS1 | c.633A>T (p.Lys211Asn) n.953A>T c.419A>T c.160A>T | |
| 4 | g.78265055T>A | CA357353758 | FRAS1 | c.634T>A (p.Cys212Ser) n.954T>A c.420T>A c.161T>A | |
| 4 | g.78265055T>C | CA357353759 | FRAS1 | c.634T>C (p.Cys212Arg) n.954T>C c.420T>C c.161T>C | |
| 4 | g.78265055T>G | CA357353761 | FRAS1 | c.634T>G (p.Cys212Gly) n.954T>G c.420T>G c.161T>G | |
| 4 | g.78265056G>A | CA357353762 | FRAS1 | c.635G>A (p.Cys212Tyr) n.955G>A c.421G>A c.162G>A | |
| 4 | g.78265056G>C | CA357353764 | FRAS1 | c.635G>C (p.Cys212Ser) n.955G>C c.421G>C c.162G>C | |
| 4 | g.78265056G>T | CA357353766 | FRAS1 | c.635G>T (p.Cys212Phe) n.955G>T c.421G>T c.162G>T | |
| 4 | g.78265057T>A | CA357353768 | FRAS1 | c.636T>A (p.Cys212Ter) n.956T>A c.422T>A c.163T>A | |
| 4 | g.78265057T>C | CA439978134 | FRAS1 | c.636T>C (p.Cys212=) n.956T>C c.422T>C c.163T>C | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.78265057T>G | CA357353769 | FRAS1 | c.636T>G (p.Cys212Trp) n.956T>G c.422T>G c.163T>G | |
| 4 | g.78265057T= | CA1470450756 | FRAS1 | c.636T= (p.Cys212=) n.956T= c.422T= c.163T= | |
| 4 | g.78265057_78265071delinsTTGCCCGCAGTGCTC | CA1470450755 | FRAS1 | c.636_650delinsTTGCCCGCAGTGCTC (p.Cys212=) n.956_970delinsTTGCCCGCAGTGCTC c.422_436delinsTTGCCCGCAGTGCTC c.163_177delinsTTGCCCGCAGTGCTC | |
| 4 | g.78265058T>A | CA357353772 | FRAS1 | c.637T>A (p.Cys213Ser) n.957T>A c.423T>A c.164T>A | |
| 4 | g.78265058T>C | CA357353776 | FRAS1 | c.637T>C (p.Cys213Arg) n.957T>C c.423T>C c.164T>C | |
| 4 | g.78265058T>G | CA357353780 | FRAS1 | c.637T>G (p.Cys213Gly) n.957T>G c.423T>G c.164T>G | |
| 4 | g.78265061_78265074del | CA1064492614 | FRAS1 | c.640_653del (p.Pro214LysfsTer14) n.960_973del c.426_439del c.167_180del | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.78265059G>A | CA357353791 | FRAS1 | c.638G>A (p.Cys213Tyr) n.958G>A c.424G>A c.165G>A | |
| 4 | g.78265059G>C | CA357353793 | FRAS1 | c.638G>C (p.Cys213Ser) n.958G>C c.424G>C c.165G>C |