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.209623918T>A | CA344588827 | LAMB3 | c.2059A>T (p.Arg687Ter) c.1867A>T (p.Arg623Ter) | |
| 1 | g.209623918T>C | CA344588828 | LAMB3 | c.2059A>G (p.Arg687Gly) c.1867A>G (p.Arg623Gly) | gnomAD v4 |
| 1 | g.209623918T>G | CA423142372 | LAMB3 | c.2059A>C (p.Arg687=) c.1867A>C (p.Arg623=) | ClinVar |
| 1 | g.209623919G>A | CA423142374 | LAMB3 | c.2058C>T (p.Asp686=) c.1866C>T (p.Asp622=) | COSMIC |
| 1 | g.209623919G>C | CA344588829 | LAMB3 | c.2058C>G (p.Asp686Glu) c.1866C>G (p.Asp622Glu) | gnomAD v4 |
| 1 | g.209623919G>T | CA344588830 | LAMB3 | c.2058C>A (p.Asp686Glu) c.1866C>A (p.Asp622Glu) | dbSNP |
| 1 | g.209623920T>A | CA344588831 | LAMB3 | c.2057A>T (p.Asp686Val) c.1865A>T (p.Asp622Val) | |
| 1 | g.209623920T>C | CA344588832 | LAMB3 | c.2057A>G (p.Asp686Gly) c.1865A>G (p.Asp622Gly) | gnomAD v4 |
| 1 | g.209623920T>G | CA344588833 | LAMB3 | c.2057A>C (p.Asp686Ala) c.1865A>C (p.Asp622Ala) | |
| 1 | g.209623921C>A | CA344588834 | LAMB3 | c.2056G>T (p.Asp686Tyr) c.1864G>T (p.Asp622Tyr) | |
| 1 | g.209623921C>G | CA344588835 | LAMB3 | c.2056G>C (p.Asp686His) c.1864G>C (p.Asp622His) | |
| 1 | g.209623921C>T | CA344588836 | LAMB3 | c.2056G>A (p.Asp686Asn) c.1864G>A (p.Asp622Asn) | |
| 1 | g.209623922A>C | CA423142385 | LAMB3 | c.2055T>G (p.Leu685=) c.1863T>G (p.Leu621=) | dbSNP |
| 1 | g.209623922A>G | CA423142391 | LAMB3 | c.2055T>C (p.Leu685=) c.1863T>C (p.Leu621=) | |
| 1 | g.209623922A>T | CA423142388 | LAMB3 | c.2055T>A (p.Leu685=) c.1863T>A (p.Leu621=) | |
| 1 | g.209623923A= | CA2484298430 | LAMB3 | c.2054T= (p.Leu685=) c.1862T= (p.Leu621=) | |
| 1 | g.209623923A>C | CA344588837 | LAMB3 | c.2054T>G (p.Leu685Arg) c.1862T>G (p.Leu621Arg) | dbSNP |
| 1 | g.209623923A>G | CA344588839 | LAMB3 | c.2054T>C (p.Leu685Pro) c.1862T>C (p.Leu621Pro) | |
| 1 | g.209623923A>T | CA344588838 | LAMB3 | c.2054T>A (p.Leu685His) c.1862T>A (p.Leu621His) | |
| 1 | g.209623924G>A | CA344588840 | LAMB3 | c.2053C>T (p.Leu685Phe) c.1861C>T (p.Leu621Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209623924G>C | CA344588841 | LAMB3 | c.2053C>G (p.Leu685Val) c.1861C>G (p.Leu621Val) | |
| 1 | g.209623924G= | CA2484298431 | LAMB3 | c.2053C= (p.Leu685=) c.1861C= (p.Leu621=) | |
| 1 | g.209623924G>T | CA344588842 | LAMB3 | c.2053C>A (p.Leu685Ile) c.1861C>A (p.Leu621Ile) | |
| 1 | g.209623925A>C | CA344588843 | LAMB3 | c.2052T>G (p.Ser684Arg) c.1860T>G (p.Ser620Arg) | |
| 1 | g.209623925A>G | CA423142400 | LAMB3 | c.2052T>C (p.Ser684=) c.1860T>C (p.Ser620=) | gnomAD v4 |
| 1 | g.209623925A>T | CA344588844 | LAMB3 | c.2052T>A (p.Ser684Arg) c.1860T>A (p.Ser620Arg) | |
| 1 | g.209623926C>A | CA344588845 | LAMB3 | c.2051G>T (p.Ser684Ile) c.1859G>T (p.Ser620Ile) | |
| 1 | g.209623926C= | CA2484298432 | LAMB3 | c.2051G= (p.Ser684=) c.1859G= (p.Ser620=) | |
| 1 | g.209623926C>G | CA344588846 | LAMB3 | c.2051G>C (p.Ser684Thr) c.1859G>C (p.Ser620Thr) | |
| 1 | g.209623926C>T | CA1375395 | LAMB3 | c.2051G>A (p.Ser684Asn) c.1859G>A (p.Ser620Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623927T>A | CA344588847 | LAMB3 | c.2050A>T (p.Ser684Cys) c.1858A>T (p.Ser620Cys) | |
| 1 | g.209623927T>C | CA344588848 | LAMB3 | c.2050A>G (p.Ser684Gly) c.1858A>G (p.Ser620Gly) | dbSNP gnomAD v4 |
| 1 | g.209623927T>G | CA344588849 | LAMB3 | c.2050A>C (p.Ser684Arg) c.1858A>C (p.Ser620Arg) | gnomAD v4 |
| 1 | g.209623927T= | CA2484298433 | LAMB3 | c.2050A= (p.Ser684=) c.1858A= (p.Ser620=) | |
| 1 | g.209623928C>A | CA344588850 | LAMB3 | c.2049G>T (p.Glu683Asp) c.1857G>T (p.Glu619Asp) | |
| 1 | g.209623928C>G | CA344588851 | LAMB3 | c.2049G>C (p.Glu683Asp) c.1857G>C (p.Glu619Asp) | |
| 1 | g.209623928C>T | CA423142408 | LAMB3 | c.2049G>A (p.Glu683=) c.1857G>A (p.Glu619=) | ClinVar |
| 1 | g.209623929T>A | CA344588852 | LAMB3 | c.2048A>T (p.Glu683Val) c.1856A>T (p.Glu619Val) | |
| 1 | g.209623929T>C | CA344588854 | LAMB3 | c.2048A>G (p.Glu683Gly) c.1856A>G (p.Glu619Gly) | gnomAD v4 |
| 1 | g.209623929T>G | CA344588853 | LAMB3 | c.2048A>C (p.Glu683Ala) c.1856A>C (p.Glu619Ala) | |
| 1 | g.209623929_209623930delinsTC | CA2484298434 | LAMB3 | c.2047_2048delinsGA (p.Glu683=) c.1855_1856delinsGA (p.Glu619=) | |
| 1 | g.209623930C>A | CA344588855 | LAMB3 | c.2047G>T (p.Glu683Ter) c.1855G>T (p.Glu619Ter) | |
| 1 | g.209623930C>G | CA344588856 | LAMB3 | c.2047G>C (p.Glu683Gln) c.1855G>C (p.Glu619Gln) | |
| 1 | g.209623930C>T | CA344588857 | LAMB3 | c.2047G>A (p.Glu683Lys) c.1855G>A (p.Glu619Lys) | |
| 1 | g.209623931del | CA2484298435 | LAMB3 | c.2047del (p.Glu683ArgfsTer24) c.1855del (p.Glu619ArgfsTer24) | ClinVar dbSNP |
| 1 | g.209623931C>A | CA423142417 | LAMB3 | c.2046G>T (p.Leu682=) c.1854G>T (p.Leu618=) | |
| 1 | g.209623931C= | CA2484298436 | LAMB3 | c.2046G= (p.Leu682=) c.1854G= (p.Leu618=) | |
| 1 | g.209623931C>G | CA423142418 | LAMB3 | c.2046G>C (p.Leu682=) c.1854G>C (p.Leu618=) | |
| 1 | g.209623931C>T | CA423142419 | LAMB3 | c.2046G>A (p.Leu682=) c.1854G>A (p.Leu618=) | dbSNP gnomAD v2 |
| 1 | g.209623932A>C | CA344588858 | LAMB3 | c.2045T>G (p.Leu682Arg) c.1853T>G (p.Leu618Arg) |