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.165069101T>A | CA355035333 | SI | c.350A>T (p.Gln117Leu) c.*225A>T (n.*225A>T) c.251A>T (p.Gln84Leu) | |
| 3 | g.165069101T>C | CA115001 | SI | c.350A>G (p.Gln117Arg) c.*225A>G (n.*225A>G) c.251A>G (p.Gln84Arg) | ClinVar dbSNP |
| 3 | g.165069101T>G | CA355035337 | SI | c.350A>C (p.Gln117Pro) c.*225A>C (n.*225A>C) c.251A>C (p.Gln84Pro) | |
| 3 | g.165069101T= | CA1417382048 | SI | c.350A= (p.Gln117=) c.*225A= (n.*225A=) c.251A= (p.Gln84=) | |
| 3 | g.165069102G>A | CA355035342 | SI | c.349C>T (p.Gln117Ter) c.*224C>T (n.*224C>T) c.250C>T (p.Gln84Ter) | |
| 3 | g.165069102G>C | CA355035345 | SI | c.349C>G (p.Gln117Glu) c.*224C>G (n.*224C>G) c.250C>G (p.Gln84Glu) | dbSNP gnomAD v4 |
| 3 | g.165069102G= | CA1417382061 | SI | c.349C= (p.Gln117=) c.*224C= (n.*224C=) c.250C= (p.Gln84=) | |
| 3 | g.165069102G>T | CA355035347 | SI | c.349C>A (p.Gln117Lys) c.*224C>A (n.*224C>A) c.250C>A (p.Gln84Lys) | |
| 3 | g.165069103A>C | CA436947775 | SI | c.348T>G (p.Val116=) c.*223T>G (n.*223T>G) c.249T>G (p.Val83=) | |
| 3 | g.165069103A>G | CA436947776 | SI | c.348T>C (p.Val116=) c.*223T>C (n.*223T>C) c.249T>C (p.Val83=) | gnomAD v4 |
| 3 | g.165069103A>T | CA436947777 | SI | c.348T>A (p.Val116=) c.*223T>A (n.*223T>A) c.249T>A (p.Val83=) | |
| 3 | g.165069104A>C | CA355035351 | SI | c.347T>G (p.Val116Gly) c.*222T>G (n.*222T>G) c.248T>G (p.Val83Gly) | |
| 3 | g.165069104A>G | CA355035354 | SI | c.347T>C (p.Val116Ala) c.*222T>C (n.*222T>C) c.248T>C (p.Val83Ala) | |
| 3 | g.165069104A>T | CA355035357 | SI | c.347T>A (p.Val116Asp) c.*222T>A (n.*222T>A) c.248T>A (p.Val83Asp) | |
| 3 | g.165069105C>A | CA355035361 | SI | c.346G>T (p.Val116Phe) c.*221G>T (n.*221G>T) c.247G>T (p.Val83Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.165069105C= | CA1417382072 | SI | c.346G= (p.Val116=) c.*221G= (n.*221G=) c.247G= (p.Val83=) | |
| 3 | g.165069105C>G | CA355035364 | SI | c.346G>C (p.Val116Leu) c.*221G>C (n.*221G>C) c.247G>C (p.Val83Leu) | |
| 3 | g.165069105C>T | CA355035365 | SI | c.346G>A (p.Val116Ile) c.*221G>A (n.*221G>A) c.247G>A (p.Val83Ile) | COSMIC COSMIC |
| 3 | g.165069106G>A | CA436947778 | SI | c.345C>T (p.Asn115=) c.*220C>T (n.*220C>T) c.246C>T (p.Asn82=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.165069106G>C | CA355035368 | SI | c.345C>G (p.Asn115Lys) c.*220C>G (n.*220C>G) c.246C>G (p.Asn82Lys) | |
| 3 | g.165069106G= | CA1417382077 | SI | c.345C= (p.Asn115=) c.*220C= (n.*220C=) c.246C= (p.Asn82=) | |
| 3 | g.165069106G>T | CA355035371 | SI | c.345C>A (p.Asn115Lys) c.*220C>A (n.*220C>A) c.246C>A (p.Asn82Lys) | gnomAD v4 |
| 3 | g.165069107T>A | CA355035374 | SI | c.344A>T (p.Asn115Ile) c.*219A>T (n.*219A>T) c.245A>T (p.Asn82Ile) | |
| 3 | g.165069107T>C | CA355035377 | SI | c.344A>G (p.Asn115Ser) c.*219A>G (n.*219A>G) c.245A>G (p.Asn82Ser) | |
| 3 | g.165069107T>G | CA355035380 | SI | c.344A>C (p.Asn115Thr) c.*219A>C (n.*219A>C) c.245A>C (p.Asn82Thr) | |
| 3 | g.165069108T>A | CA355035383 | SI | c.343A>T (p.Asn115Tyr) c.*218A>T (n.*218A>T) c.244A>T (p.Asn82Tyr) | |
| 3 | g.165069108T>C | CA355035385 | SI | c.343A>G (p.Asn115Asp) c.*218A>G (n.*218A>G) c.244A>G (p.Asn82Asp) | dbSNP |
| 3 | g.165069108T>G | CA355035388 | SI | c.343A>C (p.Asn115His) c.*218A>C (n.*218A>C) c.244A>C (p.Asn82His) | |
| 3 | g.165069108T= | CA1417382084 | SI | c.343A= (p.Asn115=) c.*218A= (n.*218A=) c.244A= (p.Asn82=) | |
| 3 | g.165069109A= | CA1417382091 | SI | c.342T= (p.Tyr114=) c.*217T= (n.*217T=) c.243T= (p.Tyr81=) | |
| 3 | g.165069109A>C | CA355035391 | SI | c.342T>G (p.Tyr114Ter) c.*217T>G (n.*217T>G) c.243T>G (p.Tyr81Ter) | |
| 3 | g.165069109A>G | CA2691540 | SI | c.342T>C (p.Tyr114=) c.*217T>C (n.*217T>C) c.243T>C (p.Tyr81=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.165069109A>T | CA355035394 | SI | c.342T>A (p.Tyr114Ter) c.*217T>A (n.*217T>A) c.243T>A (p.Tyr81Ter) | |
| 3 | g.165069110T>A | CA355035399 | SI | c.341A>T (p.Tyr114Phe) c.*216A>T (n.*216A>T) c.242A>T (p.Tyr81Phe) | |
| 3 | g.165069110T>C | CA355035401 | SI | c.341A>G (p.Tyr114Cys) c.*216A>G (n.*216A>G) c.242A>G (p.Tyr81Cys) | |
| 3 | g.165069110T>G | CA355035403 | SI | c.341A>C (p.Tyr114Ser) c.*216A>C (n.*216A>C) c.242A>C (p.Tyr81Ser) | |
| 3 | g.165069111A>C | CA355035411 | SI | c.340T>G (p.Tyr114Asp) c.*215T>G (n.*215T>G) c.241T>G (p.Tyr81Asp) | |
| 3 | g.165069111A>G | CA355035408 | SI | c.340T>C (p.Tyr114His) c.*215T>C (n.*215T>C) c.241T>C (p.Tyr81His) | |
| 3 | g.165069111A>T | CA355035406 | SI | c.340T>A (p.Tyr114Asn) c.*215T>A (n.*215T>A) c.241T>A (p.Tyr81Asn) | |
| 3 | g.165069112A>C | CA436947779 | SI | c.339T>G (p.Gly113=) c.*214T>G (n.*214T>G) c.240T>G (p.Gly80=) | |
| 3 | g.165069112A>G | CA436947780 | SI | c.339T>C (p.Gly113=) c.*214T>C (n.*214T>C) c.240T>C (p.Gly80=) | |
| 3 | g.165069112A>T | CA436947781 | SI | c.339T>A (p.Gly113=) c.*214T>A (n.*214T>A) c.240T>A (p.Gly80=) | |
| 3 | g.165069113C>A | CA355035420 | SI | c.338G>T (p.Gly113Val) c.*213G>T (n.*213G>T) c.239G>T (p.Gly80Val) | gnomAD v4 |
| 3 | g.165069113C>G | CA355035415 | SI | c.338G>C (p.Gly113Ala) c.*213G>C (n.*213G>C) c.239G>C (p.Gly80Ala) | |
| 3 | g.165069113C>T | CA355035417 | SI | c.338G>A (p.Gly113Asp) c.*213G>A (n.*213G>A) c.239G>A (p.Gly80Asp) | |
| 3 | g.165069114C>A | CA355035423 | SI | c.337G>T (p.Gly113Cys) c.*212G>T (n.*212G>T) c.238G>T (p.Gly80Cys) | |
| 3 | g.165069114C= | CA1417382093 | SI | c.337G= (p.Gly113=) c.*212G= (n.*212G=) c.238G= (p.Gly80=) | |
| 3 | g.165069114C>G | CA2691541 | SI | c.337G>C (p.Gly113Arg) c.*212G>C (n.*212G>C) c.238G>C (p.Gly80Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.165069114C>T | CA355035427 | SI | c.337G>A (p.Gly113Ser) c.*212G>A (n.*212G>A) c.238G>A (p.Gly80Ser) | |
| 3 | g.165069115A>C | CA355035429 | SI | c.336T>G (p.His112Gln) c.*211T>G (n.*211T>G) c.237T>G (p.His79Gln) |