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 |
|---|---|---|---|---|---|
| 15 | g.67066301_67066309del | CA2695220917 | SMAD3 | c.-110+2357_-110+2365del (n.-110+2357_-110+2365del) c.147_155del (p.Asp49_Leu51del) | |
| 15 | g.67066308G>A | CA393203011 | SMAD3 | c.-110+2364G>A (n.-110+2364G>A) c.154G>A (p.Glu52Lys) | |
| 15 | g.67066308G>C | CA393203010 | SMAD3 | c.-110+2364G>C (n.-110+2364G>C) c.154G>C (p.Glu52Gln) | |
| 15 | g.67066308G= | CA2184369259 | SMAD3 | c.-110+2364G= (n.-110+2364G=) c.154G= (p.Glu52=) | |
| 15 | g.67066308G>T | CA325173 | SMAD3 | c.-110+2364G>T (n.-110+2364G>T) c.154G>T (p.Glu52Ter) | ClinVar dbSNP |
| 15 | g.67066309A>C | CA393203012 | SMAD3 | c.-110+2365A>C (n.-110+2365A>C) c.155A>C (p.Glu52Ala) | |
| 15 | g.67066309A>G | CA393203013 | SMAD3 | c.-110+2365A>G (n.-110+2365A>G) c.155A>G (p.Glu52Gly) | |
| 15 | g.67066309A>T | CA393203014 | SMAD3 | c.-110+2365A>T (n.-110+2365A>T) c.155A>T (p.Glu52Val) | |
| 15 | g.67066310G>A | CA491015725 | SMAD3 | c.-110+2366G>A (n.-110+2366G>A) c.156G>A (p.Glu52=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.67066310G>C | CA393203015 | SMAD3 | c.-110+2366G>C (n.-110+2366G>C) c.156G>C (p.Glu52Asp) | |
| 15 | g.67066310G= | CA2184369263 | SMAD3 | c.-110+2366G= (n.-110+2366G=) c.156G= (p.Glu52=) | |
| 15 | g.67066310G>T | CA393203016 | SMAD3 | c.-110+2366G>T (n.-110+2366G>T) c.156G>T (p.Glu52Asp) | |
| 15 | g.67066311A>C | CA393203017 | SMAD3 | c.-110+2367A>C (n.-110+2367A>C) c.157A>C (p.Lys53Gln) | |
| 15 | g.67066311A>G | CA393203019 | SMAD3 | c.-110+2367A>G (n.-110+2367A>G) c.157A>G (p.Lys53Glu) | ClinVar dbSNP |
| 15 | g.67066311A>T | CA393203018 | SMAD3 | c.-110+2367A>T (n.-110+2367A>T) c.157A>T (p.Lys53Ter) | |
| 15 | g.67066312A>C | CA393203020 | SMAD3 | c.-110+2368A>C (n.-110+2368A>C) c.158A>C (p.Lys53Thr) | |
| 15 | g.67066312A>G | CA393203021 | SMAD3 | c.-110+2368A>G (n.-110+2368A>G) c.158A>G (p.Lys53Arg) | |
| 15 | g.67066312A>T | CA393203022 | SMAD3 | c.-110+2368A>T (n.-110+2368A>T) c.158A>T (p.Lys53Met) | |
| 15 | g.67066313G>A | CA272431484 | SMAD3 | c.-110+2369G>A (n.-110+2369G>A) c.159G>A (p.Lys53=) | dbSNP |
| 15 | g.67066313G>C | CA393203023 | SMAD3 | c.-110+2369G>C (n.-110+2369G>C) c.159G>C (p.Lys53Asn) | |
| 15 | g.67066313G= | CA2184369267 | SMAD3 | c.-110+2369G= (n.-110+2369G=) c.159G= (p.Lys53=) | |
| 15 | g.67066313G>T | CA393203024 | SMAD3 | c.-110+2369G>T (n.-110+2369G>T) c.159G>T (p.Lys53Asn) | |
| 15 | g.67066314G>A | CA393203025 | SMAD3 | c.-110+2370G>A (n.-110+2370G>A) c.160G>A (p.Ala54Thr) | ClinVar dbSNP |
| 15 | g.67066314G>C | CA393203026 | SMAD3 | c.-110+2370G>C (n.-110+2370G>C) c.160G>C (p.Ala54Pro) | |
| 15 | g.67066314G>T | CA393203027 | SMAD3 | c.-110+2370G>T (n.-110+2370G>T) c.160G>T (p.Ala54Ser) | |
| 15 | g.67066315C>A | CA393203028 | SMAD3 | c.-110+2371C>A (n.-110+2371C>A) c.161C>A (p.Ala54Asp) | |
| 15 | g.67066315C= | CA2184369276 | SMAD3 | c.-110+2371C= (n.-110+2371C=) c.161C= (p.Ala54=) | |
| 15 | g.67066315C>G | CA393203029 | SMAD3 | c.-110+2371C>G (n.-110+2371C>G) c.161C>G (p.Ala54Gly) | ClinVar dbSNP |
| 15 | g.67066315C>T | CA393203030 | SMAD3 | c.-110+2371C>T (n.-110+2371C>T) c.161C>T (p.Ala54Val) | dbSNP gnomAD v4 |
| 15 | g.67066316_67066319dup | CA2695220918 | SMAD3 | c.-110+2372_-110+2375dup (n.-110+2372_-110+2375dup) c.162_165dup (p.Thr56HisfsTer?) | |
| 15 | g.67066315_67066330delinsCCATCACCACGCAGAA | CA2184369278 | SMAD3 | c.-110+2371_-110+2386delinsCCATCACCACGCAGAA (n.-110+2371_-110+2386delinsCCATCACCACGCAGAA) c.161_176delinsCCATCACCACGCAGAA (p.Ala54=) | |
| 15 | g.67066316C>A | CA491015746 | SMAD3 | c.-110+2372C>A (n.-110+2372C>A) c.162C>A (p.Ala54=) | |
| 15 | g.67066316C= | CA2184369281 | SMAD3 | c.-110+2372C= (n.-110+2372C=) c.162C= (p.Ala54=) | |
| 15 | g.67066316C>G | CA491015749 | SMAD3 | c.-110+2372C>G (n.-110+2372C>G) c.162C>G (p.Ala54=) | gnomAD v4 |
| 15 | g.67066316C>T | CA491015748 | SMAD3 | c.-110+2372C>T (n.-110+2372C>T) c.162C>T (p.Ala54=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.67066317_67066331del | CA915946030 | SMAD3 | c.-110+2373_-110+2387del (n.-110+2373_-110+2387del) c.163_177del (p.Ile55_Asn59del) | ClinVar dbSNP |
| 15 | g.67066317A>C | CA393203031 | SMAD3 | c.-110+2373A>C (n.-110+2373A>C) c.163A>C (p.Ile55Leu) | dbSNP |
| 15 | g.67066317A>G | CA393203033 | SMAD3 | c.-110+2373A>G (n.-110+2373A>G) c.163A>G (p.Ile55Val) | gnomAD v4 |
| 15 | g.67066317A>T | CA393203032 | SMAD3 | c.-110+2373A>T (n.-110+2373A>T) c.163A>T (p.Ile55Phe) | ClinVar |
| 15 | g.67066318T>A | CA393203034 | SMAD3 | c.-110+2374T>A (n.-110+2374T>A) c.164T>A (p.Ile55Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.67066318T>C | CA393203035 | SMAD3 | c.-110+2374T>C (n.-110+2374T>C) c.164T>C (p.Ile55Thr) | |
| 15 | g.67066318T>G | CA393203036 | SMAD3 | c.-110+2374T>G (n.-110+2374T>G) c.164T>G (p.Ile55Ser) | gnomAD v4 |
| 15 | g.67066318T= | CA2184369283 | SMAD3 | c.-110+2374T= (n.-110+2374T=) c.164T= (p.Ile55=) | |
| 15 | g.67066319C>A | CA491015758 | SMAD3 | c.-110+2375C>A (n.-110+2375C>A) c.165C>A (p.Ile55=) | |
| 15 | g.67066319C= | CA2184369289 | SMAD3 | c.-110+2375C= (n.-110+2375C=) c.165C= (p.Ile55=) | |
| 15 | g.67066319C>G | CA393203037 | SMAD3 | c.-110+2375C>G (n.-110+2375C>G) c.165C>G (p.Ile55Met) | |
| 15 | g.67066319C>T | CA272431486 | SMAD3 | c.-110+2375C>T (n.-110+2375C>T) c.165C>T (p.Ile55=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.67066320A>C | CA393203038 | SMAD3 | c.-110+2376A>C (n.-110+2376A>C) c.166A>C (p.Thr56Pro) | |
| 15 | g.67066320A>G | CA393203039 | SMAD3 | c.-110+2376A>G (n.-110+2376A>G) c.166A>G (p.Thr56Ala) | |
| 15 | g.67066320A>T | CA393203040 | SMAD3 | c.-110+2376A>T (n.-110+2376A>T) c.166A>T (p.Thr56Ser) |