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 |
|---|---|---|---|---|---|
| 6 | g.31647742G>A | CA363410682 | BAG6 | c.637C>T (p.Gln213Ter) c.552+935C>T (n.552+935C>T) c.655C>T (p.Gln219Ter) c.583C>T (p.Gln195Ter) | |
| 6 | g.31647742G>C | CA363410689 | BAG6 | c.637C>G (p.Gln213Glu) c.552+935C>G (n.552+935C>G) c.655C>G (p.Gln219Glu) c.583C>G (p.Gln195Glu) | |
| 6 | g.31647742G>T | CA363410686 | BAG6 | c.637C>A (p.Gln213Lys) c.552+935C>A (n.552+935C>A) c.655C>A (p.Gln219Lys) c.583C>A (p.Gln195Lys) | |
| 6 | g.31647743A= | CA1619246244 | BAG6 | c.636T= (p.Ser212=) c.552+934T= (n.552+934T=) c.654T= (p.Ser218=) c.582T= (p.Ser194=) | |
| 6 | g.31647743A>C | CA449665798 | BAG6 | c.636T>G (p.Ser212=) c.552+934T>G (n.552+934T>G) c.654T>G (p.Ser218=) c.582T>G (p.Ser194=) | |
| 6 | g.31647743A>G | CA449665799 | BAG6 | c.636T>C (p.Ser212=) c.552+934T>C (n.552+934T>C) c.654T>C (p.Ser218=) c.582T>C (p.Ser194=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.31647743A>T | CA449665800 | BAG6 | c.636T>A (p.Ser212=) c.552+934T>A (n.552+934T>A) c.654T>A (p.Ser218=) c.582T>A (p.Ser194=) | |
| 6 | g.31647744G>A | CA363410697 | BAG6 | c.635C>T (p.Ser212Phe) c.552+933C>T (n.552+933C>T) c.653C>T (p.Ser218Phe) c.581C>T (p.Ser194Phe) | gnomAD v4 |
| 6 | g.31647744G>C | CA363410701 | BAG6 | c.635C>G (p.Ser212Cys) c.552+933C>G (n.552+933C>G) c.653C>G (p.Ser218Cys) c.581C>G (p.Ser194Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.31647744G= | CA1619246245 | BAG6 | c.635C= (p.Ser212=) c.552+933C= (n.552+933C=) c.653C= (p.Ser218=) c.581C= (p.Ser194=) | |
| 6 | g.31647744G>T | CA363410703 | BAG6 | c.635C>A (p.Ser212Tyr) c.552+933C>A (n.552+933C>A) c.653C>A (p.Ser218Tyr) c.581C>A (p.Ser194Tyr) | |
| 6 | g.31647745A>C | CA363410707 | BAG6 | c.634T>G (p.Ser212Ala) c.552+932T>G (n.552+932T>G) c.652T>G (p.Ser218Ala) c.580T>G (p.Ser194Ala) | |
| 6 | g.31647745A>G | CA363410711 | BAG6 | c.634T>C (p.Ser212Pro) c.552+932T>C (n.552+932T>C) c.652T>C (p.Ser218Pro) c.580T>C (p.Ser194Pro) | gnomAD v4 |
| 6 | g.31647745A>T | CA363410728 | BAG6 | c.634T>A (p.Ser212Thr) c.552+932T>A (n.552+932T>A) c.652T>A (p.Ser218Thr) c.580T>A (p.Ser194Thr) | |
| 6 | g.31647746G>A | CA449665801 | BAG6 | c.633C>T (p.Ser211=) c.552+931C>T (n.552+931C>T) c.651C>T (p.Ser217=) c.579C>T (p.Ser193=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.31647746G>C | CA363410732 | BAG6 | c.633C>G (p.Ser211Arg) c.552+931C>G (n.552+931C>G) c.651C>G (p.Ser217Arg) c.579C>G (p.Ser193Arg) | |
| 6 | g.31647746G= | CA1619246246 | BAG6 | c.633C= (p.Ser211=) c.552+931C= (n.552+931C=) c.651C= (p.Ser217=) c.579C= (p.Ser193=) | |
| 6 | g.31647746G>T | CA363410734 | BAG6 | c.633C>A (p.Ser211Arg) c.552+931C>A (n.552+931C>A) c.651C>A (p.Ser217Arg) c.579C>A (p.Ser193Arg) | |
| 6 | g.31647747C>A | CA363410740 | BAG6 | c.632G>T (p.Ser211Ile) c.552+930G>T (n.552+930G>T) c.650G>T (p.Ser217Ile) c.578G>T (p.Ser193Ile) | gnomAD v4 |
| 6 | g.31647747C>G | CA363410749 | BAG6 | c.632G>C (p.Ser211Thr) c.552+930G>C (n.552+930G>C) c.650G>C (p.Ser217Thr) c.578G>C (p.Ser193Thr) | |
| 6 | g.31647747C>T | CA363410753 | BAG6 | c.632G>A (p.Ser211Asn) c.552+930G>A (n.552+930G>A) c.650G>A (p.Ser217Asn) c.578G>A (p.Ser193Asn) | gnomAD v4 |
| 6 | g.31647748T>A | CA363410780 | BAG6 | c.631A>T (p.Ser211Cys) c.552+929A>T (n.552+929A>T) c.649A>T (p.Ser217Cys) c.577A>T (p.Ser193Cys) | |
| 6 | g.31647748T>C | CA363410757 | BAG6 | c.631A>G (p.Ser211Gly) c.552+929A>G (n.552+929A>G) c.649A>G (p.Ser217Gly) c.577A>G (p.Ser193Gly) | |
| 6 | g.31647748T>G | CA363410776 | BAG6 | c.631A>C (p.Ser211Arg) c.552+929A>C (n.552+929A>C) c.649A>C (p.Ser217Arg) c.577A>C (p.Ser193Arg) | |
| 6 | g.31647749C>A | CA363410783 | BAG6 | c.630G>T (p.Leu210Phe) c.552+928G>T (n.552+928G>T) c.648G>T (p.Leu216Phe) c.576G>T (p.Leu192Phe) | |
| 6 | g.31647749C>G | CA363410790 | BAG6 | c.630G>C (p.Leu210Phe) c.552+928G>C (n.552+928G>C) c.648G>C (p.Leu216Phe) c.576G>C (p.Leu192Phe) | |
| 6 | g.31647749C>T | CA449665802 | BAG6 | c.630G>A (p.Leu210=) c.552+928G>A (n.552+928G>A) c.648G>A (p.Leu216=) c.576G>A (p.Leu192=) | |
| 6 | g.31647750A= | CA1619246247 | BAG6 | c.629T= (p.Leu210=) c.552+927T= (n.552+927T=) c.647T= (p.Leu216=) c.575T= (p.Leu192=) | |
| 6 | g.31647750A>C | CA363410795 | BAG6 | c.629T>G (p.Leu210Trp) c.552+927T>G (n.552+927T>G) c.647T>G (p.Leu216Trp) c.575T>G (p.Leu192Trp) | |
| 6 | g.31647750A>G | CA3717680 | BAG6 | c.629T>C (p.Leu210Ser) c.552+927T>C (n.552+927T>C) c.647T>C (p.Leu216Ser) c.575T>C (p.Leu192Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.31647750A>T | CA363410806 | BAG6 | c.629T>A (p.Leu210Ter) c.552+927T>A (n.552+927T>A) c.647T>A (p.Leu216Ter) c.575T>A (p.Leu192Ter) | |
| 6 | g.31647751A= | CA1619246248 | BAG6 | c.628T= (p.Leu210=) c.552+926T= (n.552+926T=) c.646T= (p.Leu216=) c.574T= (p.Leu192=) | |
| 6 | g.31647751A>C | CA363410810 | BAG6 | c.628T>G (p.Leu210Val) c.552+926T>G (n.552+926T>G) c.646T>G (p.Leu216Val) c.574T>G (p.Leu192Val) | |
| 6 | g.31647751A>G | CA449665803 | BAG6 | c.628T>C (p.Leu210=) c.552+926T>C (n.552+926T>C) c.646T>C (p.Leu216=) c.574T>C (p.Leu192=) | gnomAD v4 |
| 6 | g.31647751A>T | CA363410812 | BAG6 | c.628T>A (p.Leu210Met) c.552+926T>A (n.552+926T>A) c.646T>A (p.Leu216Met) c.574T>A (p.Leu192Met) | dbSNP |
| 6 | g.31647752G>A | CA449665804 | BAG6 | c.627C>T (p.Ala209=) c.552+925C>T (n.552+925C>T) c.645C>T (p.Ala215=) c.573C>T (p.Ala191=) | |
| 6 | g.31647752G>C | CA449665805 | BAG6 | c.627C>G (p.Ala209=) c.552+925C>G (n.552+925C>G) c.645C>G (p.Ala215=) c.573C>G (p.Ala191=) | |
| 6 | g.31647752G>T | CA449665806 | BAG6 | c.627C>A (p.Ala209=) c.552+925C>A (n.552+925C>A) c.645C>A (p.Ala215=) c.573C>A (p.Ala191=) | |
| 6 | g.31647753G>A | CA363410816 | BAG6 | c.626C>T (p.Ala209Val) c.552+924C>T (n.552+924C>T) c.644C>T (p.Ala215Val) c.572C>T (p.Ala191Val) | |
| 6 | g.31647753G>C | CA363410822 | BAG6 | c.626C>G (p.Ala209Gly) c.552+924C>G (n.552+924C>G) c.644C>G (p.Ala215Gly) c.572C>G (p.Ala191Gly) | |
| 6 | g.31647753G>T | CA363410826 | BAG6 | c.626C>A (p.Ala209Asp) c.552+924C>A (n.552+924C>A) c.644C>A (p.Ala215Asp) c.572C>A (p.Ala191Asp) | |
| 6 | g.31647754C>A | CA363410855 | BAG6 | c.625G>T (p.Ala209Ser) c.552+923G>T (n.552+923G>T) c.643G>T (p.Ala215Ser) c.571G>T (p.Ala191Ser) | |
| 6 | g.31647754C= | CA1619246249 | BAG6 | c.625G= (p.Ala209=) c.552+923G= (n.552+923G=) c.643G= (p.Ala215=) c.571G= (p.Ala191=) | |
| 6 | g.31647754C>G | CA363410859 | BAG6 | c.625G>C (p.Ala209Pro) c.552+923G>C (n.552+923G>C) c.643G>C (p.Ala215Pro) c.571G>C (p.Ala191Pro) | |
| 6 | g.31647754C>T | CA363410831 | BAG6 | c.625G>A (p.Ala209Thr) c.552+923G>A (n.552+923G>A) c.643G>A (p.Ala215Thr) c.571G>A (p.Ala191Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.31647755T>A | CA449665807 | BAG6 | c.624A>T (p.Val208=) c.552+922A>T (n.552+922A>T) c.642A>T (p.Val214=) c.570A>T (p.Val190=) | |
| 6 | g.31647755T>C | CA449665808 | BAG6 | c.624A>G (p.Val208=) c.552+922A>G (n.552+922A>G) c.642A>G (p.Val214=) c.570A>G (p.Val190=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.31647755T>G | CA449665809 | BAG6 | c.624A>C (p.Val208=) c.552+922A>C (n.552+922A>C) c.642A>C (p.Val214=) c.570A>C (p.Val190=) | |
| 6 | g.31647755T= | CA1619246250 | BAG6 | c.624A= (p.Val208=) c.552+922A= (n.552+922A=) c.642A= (p.Val214=) c.570A= (p.Val190=) | |
| 6 | g.31647756A>C | CA363410863 | BAG6 | c.623T>G (p.Val208Gly) c.552+921T>G (n.552+921T>G) c.641T>G (p.Val214Gly) c.569T>G (p.Val190Gly) | gnomAD v4 |