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.31647645G>A | CA3717663 | BAG6 | c.734C>T (p.Thr245Ile) c.552+1032C>T (n.552+1032C>T) c.752C>T (p.Thr251Ile) c.680C>T (p.Thr227Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.31647645G>C | CA363409701 | BAG6 | c.734C>G (p.Thr245Ser) c.552+1032C>G (n.552+1032C>G) c.752C>G (p.Thr251Ser) c.680C>G (p.Thr227Ser) | |
| 6 | g.31647645G= | CA1619246206 | BAG6 | c.734C= (p.Thr245=) c.552+1032C= (n.552+1032C=) c.752C= (p.Thr251=) c.680C= (p.Thr227=) | |
| 6 | g.31647645G>T | CA363409687 | BAG6 | c.734C>A (p.Thr245Asn) c.552+1032C>A (n.552+1032C>A) c.752C>A (p.Thr251Asn) c.680C>A (p.Thr227Asn) | |
| 6 | g.31647646T>A | CA363409704 | BAG6 | c.733A>T (p.Thr245Ser) c.552+1031A>T (n.552+1031A>T) c.751A>T (p.Thr251Ser) c.679A>T (p.Thr227Ser) | dbSNP |
| 6 | g.31647646T>C | CA363409707 | BAG6 | c.733A>G (p.Thr245Ala) c.552+1031A>G (n.552+1031A>G) c.751A>G (p.Thr251Ala) c.679A>G (p.Thr227Ala) | |
| 6 | g.31647646T>G | CA363409709 | BAG6 | c.733A>C (p.Thr245Pro) c.552+1031A>C (n.552+1031A>C) c.751A>C (p.Thr251Pro) c.679A>C (p.Thr227Pro) | |
| 6 | g.31647646T= | CA1619246207 | BAG6 | c.733A= (p.Thr245=) c.552+1031A= (n.552+1031A=) c.751A= (p.Thr251=) c.679A= (p.Thr227=) | |
| 6 | g.31647647G>A | CA449665713 | BAG6 | c.732C>T (p.Leu244=) c.552+1030C>T (n.552+1030C>T) c.750C>T (p.Leu250=) c.678C>T (p.Leu226=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.31647647G>C | CA449665714 | BAG6 | c.732C>G (p.Leu244=) c.552+1030C>G (n.552+1030C>G) c.750C>G (p.Leu250=) c.678C>G (p.Leu226=) | |
| 6 | g.31647647G= | CA1619246208 | BAG6 | c.732C= (p.Leu244=) c.552+1030C= (n.552+1030C=) c.750C= (p.Leu250=) c.678C= (p.Leu226=) | |
| 6 | g.31647647G>T | CA449665715 | BAG6 | c.732C>A (p.Leu244=) c.552+1030C>A (n.552+1030C>A) c.750C>A (p.Leu250=) c.678C>A (p.Leu226=) | |
| 6 | g.31647648A= | CA1619246209 | BAG6 | c.731T= (p.Leu244=) c.552+1029T= (n.552+1029T=) c.749T= (p.Leu250=) c.677T= (p.Leu226=) | |
| 6 | g.31647648A>C | CA363409714 | BAG6 | c.731T>G (p.Leu244Arg) c.552+1029T>G (n.552+1029T>G) c.749T>G (p.Leu250Arg) c.677T>G (p.Leu226Arg) | gnomAD v4 |
| 6 | g.31647648A>G | CA363409717 | BAG6 | c.731T>C (p.Leu244Pro) c.552+1029T>C (n.552+1029T>C) c.749T>C (p.Leu250Pro) c.677T>C (p.Leu226Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.31647648A>T | CA363409718 | BAG6 | c.731T>A (p.Leu244His) c.552+1029T>A (n.552+1029T>A) c.749T>A (p.Leu250His) c.677T>A (p.Leu226His) | |
| 6 | g.31647649G>A | CA363409726 | BAG6 | c.730C>T (p.Leu244Phe) c.552+1028C>T (n.552+1028C>T) c.748C>T (p.Leu250Phe) c.676C>T (p.Leu226Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.31647649G>C | CA363409721 | BAG6 | c.730C>G (p.Leu244Val) c.552+1028C>G (n.552+1028C>G) c.748C>G (p.Leu250Val) c.676C>G (p.Leu226Val) | |
| 6 | g.31647649G= | CA1619246210 | BAG6 | c.730C= (p.Leu244=) c.552+1028C= (n.552+1028C=) c.748C= (p.Leu250=) c.676C= (p.Leu226=) | |
| 6 | g.31647649G>T | CA363409723 | BAG6 | c.730C>A (p.Leu244Ile) c.552+1028C>A (n.552+1028C>A) c.748C>A (p.Leu250Ile) c.676C>A (p.Leu226Ile) | |
| 6 | g.31647650C>A | CA363409727 | BAG6 | c.729G>T (p.Glu243Asp) c.552+1027G>T (n.552+1027G>T) c.747G>T (p.Glu249Asp) c.675G>T (p.Glu225Asp) | |
| 6 | g.31647650C>G | CA363409744 | BAG6 | c.729G>C (p.Glu243Asp) c.552+1027G>C (n.552+1027G>C) c.747G>C (p.Glu249Asp) c.675G>C (p.Glu225Asp) | |
| 6 | g.31647650C>T | CA449665717 | BAG6 | c.729G>A (p.Glu243=) c.552+1027G>A (n.552+1027G>A) c.747G>A (p.Glu249=) c.675G>A (p.Glu225=) | |
| 6 | g.31647651T>A | CA363409750 | BAG6 | c.728A>T (p.Glu243Val) c.552+1026A>T (n.552+1026A>T) c.746A>T (p.Glu249Val) c.674A>T (p.Glu225Val) | |
| 6 | g.31647651T>C | CA363409753 | BAG6 | c.728A>G (p.Glu243Gly) c.552+1026A>G (n.552+1026A>G) c.746A>G (p.Glu249Gly) c.674A>G (p.Glu225Gly) | gnomAD v4 |
| 6 | g.31647651T>G | CA363409756 | BAG6 | c.728A>C (p.Glu243Ala) c.552+1026A>C (n.552+1026A>C) c.746A>C (p.Glu249Ala) c.674A>C (p.Glu225Ala) | |
| 6 | g.31647652C>A | CA363409759 | BAG6 | c.727G>T (p.Glu243Ter) c.552+1025G>T (n.552+1025G>T) c.745G>T (p.Glu249Ter) c.673G>T (p.Glu225Ter) | |
| 6 | g.31647652C>G | CA363409761 | BAG6 | c.727G>C (p.Glu243Gln) c.552+1025G>C (n.552+1025G>C) c.745G>C (p.Glu249Gln) c.673G>C (p.Glu225Gln) | |
| 6 | g.31647652C>T | CA363409760 | BAG6 | c.727G>A (p.Glu243Lys) c.552+1025G>A (n.552+1025G>A) c.745G>A (p.Glu249Lys) c.673G>A (p.Glu225Lys) | |
| 6 | g.31647653C>A | CA449665719 | BAG6 | c.726G>T (p.Pro242=) c.552+1024G>T (n.552+1024G>T) c.744G>T (p.Pro248=) c.672G>T (p.Pro224=) | |
| 6 | g.31647653C= | CA1619246211 | BAG6 | c.726G= (p.Pro242=) c.552+1024G= (n.552+1024G=) c.744G= (p.Pro248=) c.672G= (p.Pro224=) | |
| 6 | g.31647653C>G | CA449665720 | BAG6 | c.726G>C (p.Pro242=) c.552+1024G>C (n.552+1024G>C) c.744G>C (p.Pro248=) c.672G>C (p.Pro224=) | |
| 6 | g.31647653C>T | CA449665721 | BAG6 | c.726G>A (p.Pro242=) c.552+1024G>A (n.552+1024G>A) c.744G>A (p.Pro248=) c.672G>A (p.Pro224=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.31647654G>A | CA3717664 | BAG6 | c.725C>T (p.Pro242Leu) c.552+1023C>T (n.552+1023C>T) c.743C>T (p.Pro248Leu) c.671C>T (p.Pro224Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.31647654G>C | CA363409762 | BAG6 | c.725C>G (p.Pro242Arg) c.552+1023C>G (n.552+1023C>G) c.743C>G (p.Pro248Arg) c.671C>G (p.Pro224Arg) | gnomAD v4 |
| 6 | g.31647654G= | CA1619246212 | BAG6 | c.725C= (p.Pro242=) c.552+1023C= (n.552+1023C=) c.743C= (p.Pro248=) c.671C= (p.Pro224=) | |
| 6 | g.31647654G>T | CA363409764 | BAG6 | c.725C>A (p.Pro242Gln) c.552+1023C>A (n.552+1023C>A) c.743C>A (p.Pro248Gln) c.671C>A (p.Pro224Gln) | |
| 6 | g.31647655G>A | CA136878120 | BAG6 | c.724C>T (p.Pro242Ser) c.552+1022C>T (n.552+1022C>T) c.742C>T (p.Pro248Ser) c.670C>T (p.Pro224Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.31647655G>C | CA363409766 | BAG6 | c.724C>G (p.Pro242Ala) c.552+1022C>G (n.552+1022C>G) c.742C>G (p.Pro248Ala) c.670C>G (p.Pro224Ala) | |
| 6 | g.31647655G= | CA1619246213 | BAG6 | c.724C= (p.Pro242=) c.552+1022C= (n.552+1022C=) c.742C= (p.Pro248=) c.670C= (p.Pro224=) | |
| 6 | g.31647655G>T | CA363409770 | BAG6 | c.724C>A (p.Pro242Thr) c.552+1022C>A (n.552+1022C>A) c.742C>A (p.Pro248Thr) c.670C>A (p.Pro224Thr) | |
| 6 | g.31647656G>A | CA449665723 | BAG6 | c.723C>T (p.Asn241=) c.552+1021C>T (n.552+1021C>T) c.741C>T (p.Asn247=) c.669C>T (p.Asn223=) | |
| 6 | g.31647656G>C | CA363409773 | BAG6 | c.723C>G (p.Asn241Lys) c.552+1021C>G (n.552+1021C>G) c.741C>G (p.Asn247Lys) c.669C>G (p.Asn223Lys) | |
| 6 | g.31647656G>T | CA363409776 | BAG6 | c.723C>A (p.Asn241Lys) c.552+1021C>A (n.552+1021C>A) c.741C>A (p.Asn247Lys) c.669C>A (p.Asn223Lys) | |
| 6 | g.31647657T>A | CA363409778 | BAG6 | c.722A>T (p.Asn241Ile) c.552+1020A>T (n.552+1020A>T) c.740A>T (p.Asn247Ile) c.668A>T (p.Asn223Ile) | |
| 6 | g.31647657T>C | CA363409780 | BAG6 | c.722A>G (p.Asn241Ser) c.552+1020A>G (n.552+1020A>G) c.740A>G (p.Asn247Ser) c.668A>G (p.Asn223Ser) | dbSNP gnomAD v2 |
| 6 | g.31647657T>G | CA363409781 | BAG6 | c.722A>C (p.Asn241Thr) c.552+1020A>C (n.552+1020A>C) c.740A>C (p.Asn247Thr) c.668A>C (p.Asn223Thr) | |
| 6 | g.31647657T= | CA1619246214 | BAG6 | c.722A= (p.Asn241=) c.552+1020A= (n.552+1020A=) c.740A= (p.Asn247=) c.668A= (p.Asn223=) | |
| 6 | g.31647658T>A | CA363409791 | BAG6 | c.721A>T (p.Asn241Tyr) c.552+1019A>T (n.552+1019A>T) c.739A>T (p.Asn247Tyr) c.667A>T (p.Asn223Tyr) | |
| 6 | g.31647658T>C | CA363409787 | BAG6 | c.721A>G (p.Asn241Asp) c.552+1019A>G (n.552+1019A>G) c.739A>G (p.Asn247Asp) c.667A>G (p.Asn223Asp) |