| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.31647737T>A | CA449665795 | BAG6 | c.642A>T (p.Thr214=) c.552+940A>T (n.552+940A>T) c.660A>T (p.Thr220=) c.588A>T (p.Thr196=) | |
| 6 | g.31647737T>C | CA3717679 | BAG6 | c.642A>G (p.Thr214=) c.552+940A>G (n.552+940A>G) c.660A>G (p.Thr220=) c.588A>G (p.Thr196=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.31647737T>G | CA449665796 | BAG6 | c.642A>C (p.Thr214=) c.552+940A>C (n.552+940A>C) c.660A>C (p.Thr220=) c.588A>C (p.Thr196=) | |
| 6 | g.31647737T= | CA1619246243 | BAG6 | c.642A= (p.Thr214=) c.552+940A= (n.552+940A=) c.660A= (p.Thr220=) c.588A= (p.Thr196=) | |
| 6 | g.31647738G>A | CA363410627 | BAG6 | c.641C>T (p.Thr214Ile) c.552+939C>T (n.552+939C>T) c.659C>T (p.Thr220Ile) c.587C>T (p.Thr196Ile) | |
| 6 | g.31647738G>C | CA363410630 | BAG6 | c.641C>G (p.Thr214Arg) c.552+939C>G (n.552+939C>G) c.659C>G (p.Thr220Arg) c.587C>G (p.Thr196Arg) | |
| 6 | g.31647738G>T | CA363410636 | BAG6 | c.641C>A (p.Thr214Lys) c.552+939C>A (n.552+939C>A) c.659C>A (p.Thr220Lys) c.587C>A (p.Thr196Lys) | |
| 6 | g.31647739T>A | CA363410641 | BAG6 | c.640A>T (p.Thr214Ser) c.552+938A>T (n.552+938A>T) c.658A>T (p.Thr220Ser) c.586A>T (p.Thr196Ser) | |
| 6 | g.31647739T>C | CA363410644 | BAG6 | c.640A>G (p.Thr214Ala) c.552+938A>G (n.552+938A>G) c.658A>G (p.Thr220Ala) c.586A>G (p.Thr196Ala) | |
| 6 | g.31647739T>G | CA363410648 | BAG6 | c.640A>C (p.Thr214Pro) c.552+938A>C (n.552+938A>C) c.658A>C (p.Thr220Pro) c.586A>C (p.Thr196Pro) | |
| 6 | g.31647740T>A | CA363410651 | BAG6 | c.639A>T (p.Gln213His) c.552+937A>T (n.552+937A>T) c.657A>T (p.Gln219His) c.585A>T (p.Gln195His) | |
| 6 | g.31647740T>C | CA449665797 | BAG6 | c.639A>G (p.Gln213=) c.552+937A>G (n.552+937A>G) c.657A>G (p.Gln219=) c.585A>G (p.Gln195=) | |
| 6 | g.31647740T>G | CA363410654 | BAG6 | c.639A>C (p.Gln213His) c.552+937A>C (n.552+937A>C) c.657A>C (p.Gln219His) c.585A>C (p.Gln195His) | |
| 6 | g.31647741T>A | CA363410663 | BAG6 | c.638A>T (p.Gln213Leu) c.552+936A>T (n.552+936A>T) c.656A>T (p.Gln219Leu) c.584A>T (p.Gln195Leu) | |
| 6 | g.31647741T>C | CA363410666 | BAG6 | c.638A>G (p.Gln213Arg) c.552+936A>G (n.552+936A>G) c.656A>G (p.Gln219Arg) c.584A>G (p.Gln195Arg) | |
| 6 | g.31647741T>G | CA363410660 | BAG6 | c.638A>C (p.Gln213Pro) c.552+936A>C (n.552+936A>C) c.656A>C (p.Gln219Pro) c.584A>C (p.Gln195Pro) | |
| 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 |