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 |
|---|---|---|---|---|---|
| 3 | g.119811628_119811636del | CA2557852 | NR1I2 | c.421_429del (p.Gln141_Leu143del) c.538_546del (p.Gln180_Leu182del) n.553_561del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119811636G>A | CA435220195 | NR1I2 | c.429G>A (p.Leu143=) c.546G>A (p.Leu182=) n.561G>A | |
| 3 | g.119811636G>C | CA435220196 | NR1I2 | c.429G>C (p.Leu143=) c.546G>C (p.Leu182=) n.561G>C | |
| 3 | g.119811636G>T | CA435220197 | NR1I2 | c.429G>T (p.Leu143=) c.546G>T (p.Leu182=) n.561G>T | |
| 3 | g.119811637A>C | CA354058234 | NR1I2 | c.430A>C (p.Thr144Pro) c.547A>C (p.Thr183Pro) n.562A>C | |
| 3 | g.119811637A>G | CA354058235 | NR1I2 | c.430A>G (p.Thr144Ala) c.547A>G (p.Thr183Ala) n.562A>G | |
| 3 | g.119811637A>T | CA354058236 | NR1I2 | c.430A>T (p.Thr144Ser) c.547A>T (p.Thr183Ser) n.562A>T | |
| 3 | g.119811638C>A | CA354058237 | NR1I2 | c.431C>A (p.Thr144Lys) c.548C>A (p.Thr183Lys) n.563C>A | |
| 3 | g.119811638C>G | CA354058238 | NR1I2 | c.431C>G (p.Thr144Arg) c.548C>G (p.Thr183Arg) n.563C>G | |
| 3 | g.119811638C>T | CA354058239 | NR1I2 | c.431C>T (p.Thr144Ile) c.548C>T (p.Thr183Ile) n.563C>T | |
| 3 | g.119811639A= | CA1396725558 | NR1I2 | c.432A= (p.Thr144=) c.549A= (p.Thr183=) n.564A= | |
| 3 | g.119811639A>C | CA435220198 | NR1I2 | c.432A>C (p.Thr144=) c.549A>C (p.Thr183=) n.564A>C | dbSNP |
| 3 | g.119811639A>G | CA435220199 | NR1I2 | c.432A>G (p.Thr144=) c.549A>G (p.Thr183=) n.564A>G | |
| 3 | g.119811639A>T | CA435220200 | NR1I2 | c.432A>T (p.Thr144=) c.549A>T (p.Thr183=) n.564A>T | |
| 3 | g.119811640G>A | CA354058240 | NR1I2 | c.433G>A (p.Glu145Lys) c.550G>A (p.Glu184Lys) n.565G>A | |
| 3 | g.119811640G>C | CA354058241 | NR1I2 | c.433G>C (p.Glu145Gln) c.550G>C (p.Glu184Gln) n.565G>C | COSMIC |
| 3 | g.119811640G>T | CA354058244 | NR1I2 | c.433G>T (p.Glu145Ter) c.550G>T (p.Glu184Ter) n.565G>T | |
| 3 | g.119811644_119811754del | CA2667142917 | NR1I2 | c.437_519+28del c.554_636+28del n.569_651+28del | gnomAD v4 |
| 3 | g.119811641A>C | CA354058250 | NR1I2 | c.434A>C (p.Glu145Ala) c.551A>C (p.Glu184Ala) n.566A>C | |
| 3 | g.119811641A>G | CA354058251 | NR1I2 | c.434A>G (p.Glu145Gly) c.551A>G (p.Glu184Gly) n.566A>G | |
| 3 | g.119811641A>T | CA354058247 | NR1I2 | c.434A>T (p.Glu145Val) c.551A>T (p.Glu184Val) n.566A>T | |
| 3 | g.119811642G>A | CA81752756 | NR1I2 | c.435G>A (p.Glu145=) c.552G>A (p.Glu184=) n.567G>A | dbSNP |
| 3 | g.119811642G>C | CA354058252 | NR1I2 | c.435G>C (p.Glu145Asp) c.552G>C (p.Glu184Asp) n.567G>C | |
| 3 | g.119811642G= | CA1396725559 | NR1I2 | c.435G= (p.Glu145=) c.552G= (p.Glu184=) n.567G= | |
| 3 | g.119811642G>T | CA354058253 | NR1I2 | c.435G>T (p.Glu145Asp) c.552G>T (p.Glu184Asp) n.567G>T | |
| 3 | g.119811643G>A | CA354058254 | NR1I2 | c.436G>A (p.Glu146Lys) c.553G>A (p.Glu185Lys) n.568G>A | dbSNP gnomAD v2 |
| 3 | g.119811643G>C | CA354058255 | NR1I2 | c.436G>C (p.Glu146Gln) c.553G>C (p.Glu185Gln) n.568G>C | |
| 3 | g.119811643G= | CA1396725560 | NR1I2 | c.436G= (p.Glu146=) c.553G= (p.Glu185=) n.568G= | |
| 3 | g.119811643G>T | CA354058256 | NR1I2 | c.436G>T (p.Glu146Ter) c.553G>T (p.Glu185Ter) n.568G>T | |
| 3 | g.119811644A>C | CA354058259 | NR1I2 | c.437A>C (p.Glu146Ala) c.554A>C (p.Glu185Ala) n.569A>C | |
| 3 | g.119811644A>G | CA354058257 | NR1I2 | c.437A>G (p.Glu146Gly) c.554A>G (p.Glu185Gly) n.569A>G | ClinVar |
| 3 | g.119811644A>T | CA354058258 | NR1I2 | c.437A>T (p.Glu146Val) c.554A>T (p.Glu185Val) n.569A>T | |
| 3 | g.119811645G>A | CA435220201 | NR1I2 | c.438G>A (p.Glu146=) c.555G>A (p.Glu185=) n.570G>A | |
| 3 | g.119811645G>C | CA354058260 | NR1I2 | c.438G>C (p.Glu146Asp) c.555G>C (p.Glu185Asp) n.570G>C | |
| 3 | g.119811645G>T | CA354058261 | NR1I2 | c.438G>T (p.Glu146Asp) c.555G>T (p.Glu185Asp) n.570G>T | |
| 3 | g.119811646C>A | CA354058264 | NR1I2 | c.439C>A (p.Gln147Lys) c.556C>A (p.Gln186Lys) n.571C>A | |
| 3 | g.119811646C>G | CA354058265 | NR1I2 | c.439C>G (p.Gln147Glu) c.556C>G (p.Gln186Glu) n.571C>G | |
| 3 | g.119811646C>T | CA354058268 | NR1I2 | c.439C>T (p.Gln147Ter) c.556C>T (p.Gln186Ter) n.571C>T | |
| 3 | g.119811647A>C | CA354058278 | NR1I2 | c.440A>C (p.Gln147Pro) c.557A>C (p.Gln186Pro) n.572A>C | |
| 3 | g.119811647A>G | CA354058276 | NR1I2 | c.440A>G (p.Gln147Arg) c.557A>G (p.Gln186Arg) n.572A>G | |
| 3 | g.119811647A>T | CA354058271 | NR1I2 | c.440A>T (p.Gln147Leu) c.557A>T (p.Gln186Leu) n.572A>T | |
| 3 | g.119811647_119811648delinsAG | CA1396725561 | NR1I2 | c.440_441delinsAG (p.Gln147=) c.557_558delinsAG (p.Gln186=) n.572_573delinsAG | |
| 3 | g.119811648del | CA545961545 | NR1I2 | c.441del (p.Gln147HisfsTer3) c.558del (p.Gln186HisfsTer3) n.573del | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.119811648G>A | CA435220202 | NR1I2 | c.441G>A (p.Gln147=) c.558G>A (p.Gln186=) n.573G>A | gnomAD v4 |
| 3 | g.119811648G>C | CA354058280 | NR1I2 | c.441G>C (p.Gln147His) c.558G>C (p.Gln186His) n.573G>C | |
| 3 | g.119811648G>T | CA354058282 | NR1I2 | c.441G>T (p.Gln147His) c.558G>T (p.Gln186His) n.573G>T | gnomAD v4 |
| 3 | g.119811649C>A | CA435220203 | NR1I2 | c.442C>A (p.Arg148=) c.559C>A (p.Arg187=) n.574C>A | |
| 3 | g.119811649C= | CA1396725562 | NR1I2 | c.442C= (p.Arg148=) c.559C= (p.Arg187=) n.574C= | |
| 3 | g.119811649C>G | CA354058284 | NR1I2 | c.442C>G (p.Arg148Gly) c.559C>G (p.Arg187Gly) n.574C>G | |
| 3 | g.119811649C>T | CA2557857 | NR1I2 | c.442C>T (p.Arg148Trp) c.559C>T (p.Arg187Trp) n.574C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |