| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.31647637G>A | CA136878112 | BAG6 | c.742C>T (p.Pro248Ser) c.552+1040C>T (n.552+1040C>T) c.760C>T (p.Pro254Ser) c.688C>T (p.Pro230Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.31647637G>C | CA363409623 | BAG6 | c.742C>G (p.Pro248Ala) c.552+1040C>G (n.552+1040C>G) c.760C>G (p.Pro254Ala) c.688C>G (p.Pro230Ala) | gnomAD v4 |
| 6 | g.31647637G= | CA1619246198 | BAG6 | c.742C= (p.Pro248=) c.552+1040C= (n.552+1040C=) c.760C= (p.Pro254=) c.688C= (p.Pro230=) | |
| 6 | g.31647637G>T | CA363409628 | BAG6 | c.742C>A (p.Pro248Thr) c.552+1040C>A (n.552+1040C>A) c.760C>A (p.Pro254Thr) c.688C>A (p.Pro230Thr) | |
| 6 | g.31647638G>A | CA449665701 | BAG6 | c.741C>T (p.Gly247=) c.552+1039C>T (n.552+1039C>T) c.759C>T (p.Gly253=) c.687C>T (p.Gly229=) | dbSNP gnomAD v4 |
| 6 | g.31647638G>C | CA449665702 | BAG6 | c.741C>G (p.Gly247=) c.552+1039C>G (n.552+1039C>G) c.759C>G (p.Gly253=) c.687C>G (p.Gly229=) | |
| 6 | g.31647638G= | CA1619246199 | BAG6 | c.741C= (p.Gly247=) c.552+1039C= (n.552+1039C=) c.759C= (p.Gly253=) c.687C= (p.Gly229=) | |
| 6 | g.31647638G>T | CA449665703 | BAG6 | c.741C>A (p.Gly247=) c.552+1039C>A (n.552+1039C>A) c.759C>A (p.Gly253=) c.687C>A (p.Gly229=) | |
| 6 | g.31647639C>A | CA363409637 | BAG6 | c.740G>T (p.Gly247Val) c.552+1038G>T (n.552+1038G>T) c.758G>T (p.Gly253Val) c.686G>T (p.Gly229Val) | dbSNP |
| 6 | g.31647639C= | CA1619246200 | BAG6 | c.740G= (p.Gly247=) c.552+1038G= (n.552+1038G=) c.758G= (p.Gly253=) c.686G= (p.Gly229=) | |
| 6 | g.31647639C>G | CA363409642 | BAG6 | c.740G>C (p.Gly247Ala) c.552+1038G>C (n.552+1038G>C) c.758G>C (p.Gly253Ala) c.686G>C (p.Gly229Ala) | |
| 6 | g.31647639C>T | CA363409640 | BAG6 | c.740G>A (p.Gly247Asp) c.552+1038G>A (n.552+1038G>A) c.758G>A (p.Gly253Asp) c.686G>A (p.Gly229Asp) | |
| 6 | g.31647640C>A | CA363409651 | BAG6 | c.739G>T (p.Gly247Cys) c.552+1037G>T (n.552+1037G>T) c.757G>T (p.Gly253Cys) c.685G>T (p.Gly229Cys) | |
| 6 | g.31647640C= | CA1619246201 | BAG6 | c.739G= (p.Gly247=) c.552+1037G= (n.552+1037G=) c.757G= (p.Gly253=) c.685G= (p.Gly229=) | |
| 6 | g.31647640C>G | CA363409654 | BAG6 | c.739G>C (p.Gly247Arg) c.552+1037G>C (n.552+1037G>C) c.757G>C (p.Gly253Arg) c.685G>C (p.Gly229Arg) | |
| 6 | g.31647640C>T | CA363409656 | BAG6 | c.739G>A (p.Gly247Ser) c.552+1037G>A (n.552+1037G>A) c.757G>A (p.Gly253Ser) c.685G>A (p.Gly229Ser) | |
| 6 | g.31647641A= | CA1619246203 | BAG6 | c.738T= (p.Pro246=) c.552+1036T= (n.552+1036T=) c.756T= (p.Pro252=) c.684T= (p.Pro228=) | |
| 6 | g.31647641A>C | CA449665704 | BAG6 | c.738T>G (p.Pro246=) c.552+1036T>G (n.552+1036T>G) c.756T>G (p.Pro252=) c.684T>G (p.Pro228=) | |
| 6 | g.31647641A>G | CA449665705 | BAG6 | c.738T>C (p.Pro246=) c.552+1036T>C (n.552+1036T>C) c.756T>C (p.Pro252=) c.684T>C (p.Pro228=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.31647641A>T | CA449665706 | BAG6 | c.738T>A (p.Pro246=) c.552+1036T>A (n.552+1036T>A) c.756T>A (p.Pro252=) c.684T>A (p.Pro228=) | |
| 6 | g.31647642_31647643insAAG | CA1619246202 | BAG6 | c.738_739insTCT (p.Pro246_Gly247insSer) c.552+1036_552+1037insTCT (n.552+1036_552+1037insTCT) c.756_757insTCT (p.Pro252_Gly253insSer) c.684_685insTCT (p.Pro228_Gly229insSer) | dbSNP |
| 6 | g.31647642G>A | CA136878114 | BAG6 | c.737C>T (p.Pro246Leu) c.552+1035C>T (n.552+1035C>T) c.755C>T (p.Pro252Leu) c.683C>T (p.Pro228Leu) | dbSNP |
| 6 | g.31647642G>C | CA363409659 | BAG6 | c.737C>G (p.Pro246Arg) c.552+1035C>G (n.552+1035C>G) c.755C>G (p.Pro252Arg) c.683C>G (p.Pro228Arg) | |
| 6 | g.31647642G= | CA1619246204 | BAG6 | c.737C= (p.Pro246=) c.552+1035C= (n.552+1035C=) c.755C= (p.Pro252=) c.683C= (p.Pro228=) | |
| 6 | g.31647642G>T | CA136878116 | BAG6 | c.737C>A (p.Pro246His) c.552+1035C>A (n.552+1035C>A) c.755C>A (p.Pro252His) c.683C>A (p.Pro228His) | dbSNP |
| 6 | g.31647643G>A | CA363409667 | BAG6 | c.736C>T (p.Pro246Ser) c.552+1034C>T (n.552+1034C>T) c.754C>T (p.Pro252Ser) c.682C>T (p.Pro228Ser) | |
| 6 | g.31647643G>C | CA363409670 | BAG6 | c.736C>G (p.Pro246Ala) c.552+1034C>G (n.552+1034C>G) c.754C>G (p.Pro252Ala) c.682C>G (p.Pro228Ala) | dbSNP gnomAD v4 |
| 6 | g.31647643G= | CA1619246205 | BAG6 | c.736C= (p.Pro246=) c.552+1034C= (n.552+1034C=) c.754C= (p.Pro252=) c.682C= (p.Pro228=) | |
| 6 | g.31647643G>T | CA363409681 | BAG6 | c.736C>A (p.Pro246Thr) c.552+1034C>A (n.552+1034C>A) c.754C>A (p.Pro252Thr) c.682C>A (p.Pro228Thr) | |
| 6 | g.31647644A>C | CA449665711 | BAG6 | c.735T>G (p.Thr245=) c.552+1033T>G (n.552+1033T>G) c.753T>G (p.Thr251=) c.681T>G (p.Thr227=) | |
| 6 | g.31647644A>G | CA449665707 | BAG6 | c.735T>C (p.Thr245=) c.552+1033T>C (n.552+1033T>C) c.753T>C (p.Thr251=) c.681T>C (p.Thr227=) | |
| 6 | g.31647644A>T | CA449665709 | BAG6 | c.735T>A (p.Thr245=) c.552+1033T>A (n.552+1033T>A) c.753T>A (p.Thr251=) c.681T>A (p.Thr227=) | |
| 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) |