Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.76304000G>A | CA367765756 | HSPB1 | c.445G>A (p.Asp149Asn) c.*36G>A (n.*36G>A) c.440G>A (p.Gly147Glu) c.381G>A (p.Trp127Ter) c.*101G>A (n.*101G>A) c.424G>A (p.Asp142Asn) c.444G>A (p.Trp148Ter) n.796G>A c.480G>A (p.Trp160Ter) c.*30G>A (n.*30G>A) c.475G>A (p.Asp159Asn) c.-60G>A (n.-60G>A) c.*609G>A (n.*609G>A) | |
7 | g.76304000G>C | CA367765758 | HSPB1 | c.445G>C (p.Asp149His) c.*36G>C (n.*36G>C) c.440G>C (p.Gly147Ala) c.381G>C (p.Trp127Cys) c.*101G>C (n.*101G>C) c.424G>C (p.Asp142His) c.444G>C (p.Trp148Cys) n.796G>C c.480G>C (p.Trp160Cys) c.*30G>C (n.*30G>C) c.475G>C (p.Asp159His) c.-60G>C (n.-60G>C) c.*609G>C (n.*609G>C) | |
7 | g.76304000G= | CA1718331327 | HSPB1 | c.445G= (p.Asp149=) c.*36G= (n.*36G=) c.440G= (p.Gly147=) c.381G= (p.Trp127=) c.*101G= (n.*101G=) c.424G= (p.Asp142=) c.444G= (p.Trp148=) n.796G= c.480G= (p.Trp160=) c.*30G= (n.*30G=) c.475G= (p.Asp159=) c.-60G= (n.-60G=) c.*609G= (n.*609G=) | |
7 | g.76304000G>T | CA367765760 | HSPB1 | c.445G>T (p.Asp149Tyr) c.*36G>T (n.*36G>T) c.440G>T (p.Gly147Val) c.381G>T (p.Trp127Cys) c.*101G>T (n.*101G>T) c.424G>T (p.Asp142Tyr) c.444G>T (p.Trp148Cys) n.796G>T c.480G>T (p.Trp160Cys) c.*30G>T (n.*30G>T) c.475G>T (p.Asp159Tyr) c.-60G>T (n.-60G>T) c.*609G>T (n.*609G>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.76304001A>C | CA367765772 | HSPB1 | c.446A>C (p.Asp149Ala) c.*37A>C (n.*37A>C) c.441A>C (p.Gly147=) c.382A>C (p.Thr128Pro) c.*102A>C (n.*102A>C) c.425A>C (p.Asp142Ala) c.445A>C (p.Thr149Pro) n.797A>C c.481A>C (p.Thr161Pro) c.*31A>C (n.*31A>C) c.476A>C (p.Asp159Ala) c.-59A>C (n.-59A>C) c.*610A>C (n.*610A>C) | |
7 | g.76304001A>G | CA367765770 | HSPB1 | c.446A>G (p.Asp149Gly) c.*37A>G (n.*37A>G) c.441A>G (p.Gly147=) c.382A>G (p.Thr128Ala) c.*102A>G (n.*102A>G) c.425A>G (p.Asp142Gly) c.445A>G (p.Thr149Ala) n.797A>G c.481A>G (p.Thr161Ala) c.*31A>G (n.*31A>G) c.476A>G (p.Asp159Gly) c.-59A>G (n.-59A>G) c.*610A>G (n.*610A>G) | |
7 | g.76304001A>T | CA367765768 | HSPB1 | c.446A>T (p.Asp149Val) c.*37A>T (n.*37A>T) c.441A>T (p.Gly147=) c.382A>T (p.Thr128Ser) c.*102A>T (n.*102A>T) c.425A>T (p.Asp142Val) c.445A>T (p.Thr149Ser) n.797A>T c.481A>T (p.Thr161Ser) c.*31A>T (n.*31A>T) c.476A>T (p.Asp159Val) c.-59A>T (n.-59A>T) c.*610A>T (n.*610A>T) | |
7 | g.76304002C>A | CA367765776 | HSPB1 | c.447C>A (p.Asp149Glu) c.*38C>A (n.*38C>A) c.442C>A (p.Pro148Thr) c.383C>A (p.Thr128Asn) c.*103C>A (n.*103C>A) c.426C>A (p.Asp142Glu) c.446C>A (p.Thr149Asn) n.798C>A c.482C>A (p.Thr161Asn) c.*32C>A (n.*32C>A) c.477C>A (p.Asp159Glu) c.-58C>A (n.-58C>A) c.*611C>A (n.*611C>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.76304002C= | CA1718331330 | HSPB1 | c.447C= (p.Asp149=) c.*38C= (n.*38C=) c.442C= (p.Pro148=) c.383C= (p.Thr128=) c.*103C= (n.*103C=) c.426C= (p.Asp142=) c.446C= (p.Thr149=) n.798C= c.482C= (p.Thr161=) c.*32C= (n.*32C=) c.477C= (p.Asp159=) c.-58C= (n.-58C=) c.*611C= (n.*611C=) | |
7 | g.76304002C>G | CA367765778 | HSPB1 | c.447C>G (p.Asp149Glu) c.*38C>G (n.*38C>G) c.442C>G (p.Pro148Ala) c.383C>G (p.Thr128Ser) c.*103C>G (n.*103C>G) c.426C>G (p.Asp142Glu) c.446C>G (p.Thr149Ser) n.798C>G c.482C>G (p.Thr161Ser) c.*32C>G (n.*32C>G) c.477C>G (p.Asp159Glu) c.-58C>G (n.-58C>G) c.*611C>G (n.*611C>G) | |
7 | g.76304002C>T | CA160901739 | HSPB1 | c.447C>T (p.Asp149=) c.*38C>T (n.*38C>T) c.442C>T (p.Pro148Ser) c.383C>T (p.Thr128Ile) c.*103C>T (n.*103C>T) c.426C>T (p.Asp142=) c.446C>T (p.Thr149Ile) n.798C>T c.482C>T (p.Thr161Ile) c.*32C>T (n.*32C>T) c.477C>T (p.Asp159=) c.-58C>T (n.-58C>T) c.*611C>T (n.*611C>T) | dbSNP |
7 | g.76304003C>A | CA367765782 | HSPB1 | c.448C>A (p.Pro150Thr) c.*39C>A (n.*39C>A) c.443C>A (p.Pro148His) c.384C>A (p.Thr128=) c.*104C>A (n.*104C>A) c.427C>A (p.Pro143Thr) c.447C>A (p.Thr149=) n.799C>A c.483C>A (p.Thr161=) c.*33C>A (n.*33C>A) c.478C>A (p.Pro160Thr) c.-57C>A (n.-57C>A) c.*612C>A (n.*612C>A) | |
7 | g.76304003C= | CA1718331333 | HSPB1 | c.448C= (p.Pro150=) c.*39C= (n.*39C=) c.443C= (p.Pro148=) c.384C= (p.Thr128=) c.*104C= (n.*104C=) c.427C= (p.Pro143=) c.447C= (p.Thr149=) n.799C= c.483C= (p.Thr161=) c.*33C= (n.*33C=) c.478C= (p.Pro160=) c.-57C= (n.-57C=) c.*612C= (n.*612C=) | |
7 | g.76304003C>G | CA367765784 | HSPB1 | c.448C>G (p.Pro150Ala) c.*39C>G (n.*39C>G) c.443C>G (p.Pro148Arg) c.384C>G (p.Thr128=) c.*104C>G (n.*104C>G) c.427C>G (p.Pro143Ala) c.447C>G (p.Thr149=) n.799C>G c.483C>G (p.Thr161=) c.*33C>G (n.*33C>G) c.478C>G (p.Pro160Ala) c.-57C>G (n.-57C>G) c.*612C>G (n.*612C>G) | |
7 | g.76304003C>T | CA4306423 | HSPB1 | c.448C>T (p.Pro150Ser) c.*39C>T (n.*39C>T) c.443C>T (p.Pro148Leu) c.384C>T (p.Thr128=) c.*104C>T (n.*104C>T) c.427C>T (p.Pro143Ser) c.447C>T (p.Thr149=) n.799C>T c.483C>T (p.Thr161=) c.*33C>T (n.*33C>T) c.478C>T (p.Pro160Ser) c.-57C>T (n.-57C>T) c.*612C>T (n.*612C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.76304004C>A | CA10584284 | HSPB1 | c.449C>A (p.Pro150His) c.*40C>A (n.*40C>A) c.444C>A (p.Pro148=) c.385C>A (p.Pro129Thr) c.*105C>A (n.*105C>A) c.428C>A (p.Pro143His) c.448C>A (p.Pro150Thr) n.800C>A c.484C>A (p.Pro162Thr) c.*34C>A (n.*34C>A) c.479C>A (p.Pro160His) c.-56C>A (n.-56C>A) c.*613C>A (n.*613C>A) | ClinVar dbSNP |
7 | g.76304004C= | CA1718331337 | HSPB1 | c.449C= (p.Pro150=) c.*40C= (n.*40C=) c.444C= (p.Pro148=) c.385C= (p.Pro129=) c.*105C= (n.*105C=) c.428C= (p.Pro143=) c.448C= (p.Pro150=) n.800C= c.484C= (p.Pro162=) c.*34C= (n.*34C=) c.479C= (p.Pro160=) c.-56C= (n.-56C=) c.*613C= (n.*613C=) | |
7 | g.76304004C>G | CA367765790 | HSPB1 | c.449C>G (p.Pro150Arg) c.*40C>G (n.*40C>G) c.444C>G (p.Pro148=) c.385C>G (p.Pro129Ala) c.*105C>G (n.*105C>G) c.428C>G (p.Pro143Arg) c.448C>G (p.Pro150Ala) n.800C>G c.484C>G (p.Pro162Ala) c.*34C>G (n.*34C>G) c.479C>G (p.Pro160Arg) c.-56C>G (n.-56C>G) c.*613C>G (n.*613C>G) | |
7 | g.76304004C>T | CA367765792 | HSPB1 | c.449C>T (p.Pro150Leu) c.*40C>T (n.*40C>T) c.444C>T (p.Pro148=) c.385C>T (p.Pro129Ser) c.*105C>T (n.*105C>T) c.428C>T (p.Pro143Leu) c.448C>T (p.Pro150Ser) n.800C>T c.484C>T (p.Pro162Ser) c.*34C>T (n.*34C>T) c.479C>T (p.Pro160Leu) c.-56C>T (n.-56C>T) c.*613C>T (n.*613C>T) | |
7 | g.76304005C>A | CA4306424 | HSPB1 | c.450C>A (p.Pro150=) c.*41C>A (n.*41C>A) c.445C>A (p.His149Asn) c.386C>A (p.Pro129Gln) c.*106C>A (n.*106C>A) c.429C>A (p.Pro143=) c.449C>A (p.Pro150Gln) n.801C>A c.485C>A (p.Pro162Gln) c.*35C>A (n.*35C>A) c.480C>A (p.Pro160=) c.-55C>A (n.-55C>A) c.*614C>A (n.*614C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.76304005C= | CA1718331341 | HSPB1 | c.450C= (p.Pro150=) c.*41C= (n.*41C=) c.445C= (p.His149=) c.386C= (p.Pro129=) c.*106C= (n.*106C=) c.429C= (p.Pro143=) c.449C= (p.Pro150=) n.801C= c.485C= (p.Pro162=) c.*35C= (n.*35C=) c.480C= (p.Pro160=) c.-55C= (n.-55C=) c.*614C= (n.*614C=) | |
7 | g.76304005C>G | CA456330482 | HSPB1 | c.450C>G (p.Pro150=) c.*41C>G (n.*41C>G) c.445C>G (p.His149Asp) c.386C>G (p.Pro129Arg) c.*106C>G (n.*106C>G) c.429C>G (p.Pro143=) c.449C>G (p.Pro150Arg) n.801C>G c.485C>G (p.Pro162Arg) c.*35C>G (n.*35C>G) c.480C>G (p.Pro160=) c.-55C>G (n.-55C>G) c.*614C>G (n.*614C>G) | |
7 | g.76304005C>T | CA456330483 | HSPB1 | c.450C>T (p.Pro150=) c.*41C>T (n.*41C>T) c.445C>T (p.His149Tyr) c.386C>T (p.Pro129Leu) c.*106C>T (n.*106C>T) c.429C>T (p.Pro143=) c.449C>T (p.Pro150Leu) n.801C>T c.485C>T (p.Pro162Leu) c.*35C>T (n.*35C>T) c.480C>T (p.Pro160=) c.-55C>T (n.-55C>T) c.*614C>T (n.*614C>T) | dbSNP |
7 | g.76304006A= | CA1718331344 | HSPB1 | c.451A= (p.Thr151=) c.*42A= (n.*42A=) c.446A= (p.His149=) c.387A= (p.Pro129=) c.*107A= (n.*107A=) c.430A= (p.Thr144=) c.450A= (p.Pro150=) n.802A= c.486A= (p.Pro162=) c.*36A= (n.*36A=) c.481A= (p.Thr161=) c.-54A= (n.-54A=) c.*615A= (n.*615A=) | |
7 | g.76304006A>C | CA160901747 | HSPB1 | c.451A>C (p.Thr151Pro) c.*42A>C (n.*42A>C) c.446A>C (p.His149Pro) c.387A>C (p.Pro129=) c.*107A>C (n.*107A>C) c.430A>C (p.Thr144Pro) c.450A>C (p.Pro150=) n.802A>C c.486A>C (p.Pro162=) c.*36A>C (n.*36A>C) c.481A>C (p.Thr161Pro) c.-54A>C (n.-54A>C) c.*615A>C (n.*615A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.76304006A>G | CA4306425 | HSPB1 | c.451A>G (p.Thr151Ala) c.*42A>G (n.*42A>G) c.446A>G (p.His149Arg) c.387A>G (p.Pro129=) c.*107A>G (n.*107A>G) c.430A>G (p.Thr144Ala) c.450A>G (p.Pro150=) n.802A>G c.486A>G (p.Pro162=) c.*36A>G (n.*36A>G) c.481A>G (p.Thr161Ala) c.-54A>G (n.-54A>G) c.*615A>G (n.*615A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.76304006A>T | CA367765802 | HSPB1 | c.451A>T (p.Thr151Ser) c.*42A>T (n.*42A>T) c.446A>T (p.His149Leu) c.387A>T (p.Pro129=) c.*107A>T (n.*107A>T) c.430A>T (p.Thr144Ser) c.450A>T (p.Pro150=) n.802A>T c.486A>T (p.Pro162=) c.*36A>T (n.*36A>T) c.481A>T (p.Thr161Ser) c.-54A>T (n.-54A>T) c.*615A>T (n.*615A>T) | |
7 | g.76304007C>A | CA367765806 | HSPB1 | c.452C>A (p.Thr151Asn) c.*43C>A (n.*43C>A) c.447C>A (p.His149Gln) c.388C>A (p.Pro130Thr) c.*108C>A (n.*108C>A) c.431C>A (p.Thr144Asn) c.451C>A (p.Pro151Thr) n.803C>A c.487C>A (p.Pro163Thr) c.*37C>A (n.*37C>A) c.482C>A (p.Thr161Asn) c.-53C>A (n.-53C>A) c.*616C>A (n.*616C>A) | |
7 | g.76304007C= | CA1718331351 | HSPB1 | c.452C= (p.Thr151=) c.*43C= (n.*43C=) c.447C= (p.His149=) c.388C= (p.Pro130=) c.*108C= (n.*108C=) c.431C= (p.Thr144=) c.451C= (p.Pro151=) n.803C= c.487C= (p.Pro163=) c.*37C= (n.*37C=) c.482C= (p.Thr161=) c.-53C= (n.-53C=) c.*616C= (n.*616C=) | |
7 | g.76304007C>G | CA160901749 | HSPB1 | c.452C>G (p.Thr151Ser) c.*43C>G (n.*43C>G) c.447C>G (p.His149Gln) c.388C>G (p.Pro130Ala) c.*108C>G (n.*108C>G) c.431C>G (p.Thr144Ser) c.451C>G (p.Pro151Ala) n.803C>G c.487C>G (p.Pro163Ala) c.*37C>G (n.*37C>G) c.482C>G (p.Thr161Ser) c.-53C>G (n.-53C>G) c.*616C>G (n.*616C>G) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.76304007C>T | CA118824 | HSPB1 | c.452C>T (p.Thr151Ile) c.*43C>T (n.*43C>T) c.447C>T (p.His149=) c.388C>T (p.Pro130Ser) c.*108C>T (n.*108C>T) c.431C>T (p.Thr144Ile) c.451C>T (p.Pro151Ser) n.803C>T c.487C>T (p.Pro163Ser) c.*37C>T (n.*37C>T) c.482C>T (p.Thr161Ile) c.-53C>T (n.-53C>T) c.*616C>T (n.*616C>T) | ClinVar dbSNP |
7 | g.76304008C>A | CA456330487 | HSPB1 | c.453C>A (p.Thr151=) c.*44C>A (n.*44C>A) c.448C>A (p.Pro150Thr) c.389C>A (p.Pro130His) c.*109C>A (n.*109C>A) c.432C>A (p.Thr144=) c.452C>A (p.Pro151His) n.804C>A c.488C>A (p.Pro163His) c.*38C>A (n.*38C>A) c.483C>A (p.Thr161=) c.-52C>A (n.-52C>A) c.*617C>A (n.*617C>A) | gnomAD v4 |
7 | g.76304008C>G | CA456330488 | HSPB1 | c.453C>G (p.Thr151=) c.*44C>G (n.*44C>G) c.448C>G (p.Pro150Ala) c.389C>G (p.Pro130Arg) c.*109C>G (n.*109C>G) c.432C>G (p.Thr144=) c.452C>G (p.Pro151Arg) n.804C>G c.488C>G (p.Pro163Arg) c.*38C>G (n.*38C>G) c.483C>G (p.Thr161=) c.-52C>G (n.-52C>G) c.*617C>G (n.*617C>G) | gnomAD v4 |
7 | g.76304008C>T | CA456330489 | HSPB1 | c.453C>T (p.Thr151=) c.*44C>T (n.*44C>T) c.448C>T (p.Pro150Ser) c.389C>T (p.Pro130Leu) c.*109C>T (n.*109C>T) c.432C>T (p.Thr144=) c.452C>T (p.Pro151Leu) n.804C>T c.488C>T (p.Pro163Leu) c.*38C>T (n.*38C>T) c.483C>T (p.Thr161=) c.-52C>T (n.-52C>T) c.*617C>T (n.*617C>T) | gnomAD v4 |
7 | g.76304009C>A | CA367765810 | HSPB1 | c.454C>A (p.Gln152Lys) c.*45C>A (n.*45C>A) c.449C>A (p.Pro150Gln) c.390C>A (p.Pro130=) c.*110C>A (n.*110C>A) c.433C>A (p.Gln145Lys) c.453C>A (p.Pro151=) n.805C>A c.489C>A (p.Pro163=) c.*39C>A (n.*39C>A) c.484C>A (p.Gln162Lys) c.-51C>A (n.-51C>A) c.*618C>A (n.*618C>A) | |
7 | g.76304009C>G | CA367765814 | HSPB1 | c.454C>G (p.Gln152Glu) c.*45C>G (n.*45C>G) c.449C>G (p.Pro150Arg) c.390C>G (p.Pro130=) c.*110C>G (n.*110C>G) c.433C>G (p.Gln145Glu) c.453C>G (p.Pro151=) n.805C>G c.489C>G (p.Pro163=) c.*39C>G (n.*39C>G) c.484C>G (p.Gln162Glu) c.-51C>G (n.-51C>G) c.*618C>G (n.*618C>G) | gnomAD v4 |
7 | g.76304009C>T | CA367765812 | HSPB1 | c.454C>T (p.Gln152Ter) c.*45C>T (n.*45C>T) c.449C>T (p.Pro150Leu) c.390C>T (p.Pro130=) c.*110C>T (n.*110C>T) c.433C>T (p.Gln145Ter) c.453C>T (p.Pro151=) n.805C>T c.489C>T (p.Pro163=) c.*39C>T (n.*39C>T) c.484C>T (p.Gln162Ter) c.-51C>T (n.-51C>T) c.*618C>T (n.*618C>T) | |
7 | g.76304010A= | CA1718331359 | HSPB1 | c.455A= (p.Gln152=) c.*46A= (n.*46A=) c.450A= (p.Pro150=) c.391A= (p.Lys131=) c.*111A= (n.*111A=) c.434A= (p.Gln145=) c.454A= (p.Lys152=) n.806A= c.490A= (p.Lys164=) c.*40A= (n.*40A=) c.485A= (p.Gln162=) c.-50A= (n.-50A=) c.*619A= (n.*619A=) | |
7 | g.76304010A>C | CA367765816 | HSPB1 | c.455A>C (p.Gln152Pro) c.*46A>C (n.*46A>C) c.450A>C (p.Pro150=) c.391A>C (p.Lys131Gln) c.*111A>C (n.*111A>C) c.434A>C (p.Gln145Pro) c.454A>C (p.Lys152Gln) n.806A>C c.490A>C (p.Lys164Gln) c.*40A>C (n.*40A>C) c.485A>C (p.Gln162Pro) c.-50A>C (n.-50A>C) c.*619A>C (n.*619A>C) | gnomAD v4 |
7 | g.76304010A>G | CA367765821 | HSPB1 | c.455A>G (p.Gln152Arg) c.*46A>G (n.*46A>G) c.450A>G (p.Pro150=) c.391A>G (p.Lys131Glu) c.*111A>G (n.*111A>G) c.434A>G (p.Gln145Arg) c.454A>G (p.Lys152Glu) n.806A>G c.490A>G (p.Lys164Glu) c.*40A>G (n.*40A>G) c.485A>G (p.Gln162Arg) c.-50A>G (n.-50A>G) c.*619A>G (n.*619A>G) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.76304010A>T | CA367765819 | HSPB1 | c.455A>T (p.Gln152Leu) c.*46A>T (n.*46A>T) c.450A>T (p.Pro150=) c.391A>T (p.Lys131Ter) c.*111A>T (n.*111A>T) c.434A>T (p.Gln145Leu) c.454A>T (p.Lys152Ter) n.806A>T c.490A>T (p.Lys164Ter) c.*40A>T (n.*40A>T) c.485A>T (p.Gln162Leu) c.-50A>T (n.-50A>T) c.*619A>T (n.*619A>T) | |
7 | g.76304010_76304011del | CA2683409070 | HSPB1 | c.455_456del (p.Gln152ArgfsTer8) c.*46_*47del (n.*46_*47del) c.450_451del (p.Ser151PhefsTer11) c.391_392del (p.Lys131ValfsTer?) c.*111_*112del (n.*111_*112del) c.434_435del (p.Gln145ArgfsTer8) c.454_455del (p.Lys152ValfsTer?) n.806_807del c.490_491del (p.Lys164ValfsTer?) c.*40_*41del (n.*40_*41del) c.485_486del (p.Gln162ArgfsTer8) c.-50_-49del (n.-50_-49del) c.*619_*620del (n.*619_*620del) | gnomAD v4 |
7 | g.76304011A= | CA1718331362 | HSPB1 | c.456A= (p.Gln152=) c.*47A= (n.*47A=) c.451A= (p.Ser151=) c.392A= (p.Lys131=) c.*112A= (n.*112A=) c.435A= (p.Gln145=) c.455A= (p.Lys152=) n.807A= c.491A= (p.Lys164=) c.*41A= (n.*41A=) c.486A= (p.Gln162=) c.-49A= (n.-49A=) c.*620A= (n.*620A=) | |
7 | g.76304011A>C | CA367765824 | HSPB1 | c.456A>C (p.Gln152His) c.*47A>C (n.*47A>C) c.451A>C (p.Ser151Arg) c.392A>C (p.Lys131Thr) c.*112A>C (n.*112A>C) c.435A>C (p.Gln145His) c.455A>C (p.Lys152Thr) n.807A>C c.491A>C (p.Lys164Thr) c.*41A>C (n.*41A>C) c.486A>C (p.Gln162His) c.-49A>C (n.-49A>C) c.*620A>C (n.*620A>C) | ClinVar |
7 | g.76304011A>G | CA456330496 | HSPB1 | c.456A>G (p.Gln152=) c.*47A>G (n.*47A>G) c.451A>G (p.Ser151Gly) c.392A>G (p.Lys131Arg) c.*112A>G (n.*112A>G) c.435A>G (p.Gln145=) c.455A>G (p.Lys152Arg) n.807A>G c.491A>G (p.Lys164Arg) c.*41A>G (n.*41A>G) c.486A>G (p.Gln162=) c.-49A>G (n.-49A>G) c.*620A>G (n.*620A>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.76304011A>T | CA367765827 | HSPB1 | c.456A>T (p.Gln152His) c.*47A>T (n.*47A>T) c.451A>T (p.Ser151Cys) c.392A>T (p.Lys131Met) c.*112A>T (n.*112A>T) c.435A>T (p.Gln145His) c.455A>T (p.Lys152Met) n.807A>T c.491A>T (p.Lys164Met) c.*41A>T (n.*41A>T) c.486A>T (p.Gln162His) c.-49A>T (n.-49A>T) c.*620A>T (n.*620A>T) | |
7 | g.76304012G>A | CA367765829 | HSPB1 | c.457G>A (p.Val153Ile) c.*48G>A (n.*48G>A) c.452G>A (p.Ser151Asn) c.393G>A (p.Lys131=) c.*113G>A (n.*113G>A) c.436G>A (p.Val146Ile) c.456G>A (p.Lys152=) n.808G>A c.492G>A (p.Lys164=) c.*42G>A (n.*42G>A) c.487G>A (p.Val163Ile) c.-48G>A (n.-48G>A) c.*621G>A (n.*621G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.76304012G>C | CA367765832 | HSPB1 | c.457G>C (p.Val153Leu) c.*48G>C (n.*48G>C) c.452G>C (p.Ser151Thr) c.393G>C (p.Lys131Asn) c.*113G>C (n.*113G>C) c.436G>C (p.Val146Leu) c.456G>C (p.Lys152Asn) n.808G>C c.492G>C (p.Lys164Asn) c.*42G>C (n.*42G>C) c.487G>C (p.Val163Leu) c.-48G>C (n.-48G>C) c.*621G>C (n.*621G>C) | gnomAD v4 |
7 | g.76304012G= | CA1718331365 | HSPB1 | c.457G= (p.Val153=) c.*48G= (n.*48G=) c.452G= (p.Ser151=) c.393G= (p.Lys131=) c.*113G= (n.*113G=) c.436G= (p.Val146=) c.456G= (p.Lys152=) n.808G= c.492G= (p.Lys164=) c.*42G= (n.*42G=) c.487G= (p.Val163=) c.-48G= (n.-48G=) c.*621G= (n.*621G=) | |
7 | g.76304012G>T | CA367765834 | HSPB1 | c.457G>T (p.Val153Phe) c.*48G>T (n.*48G>T) c.452G>T (p.Ser151Ile) c.393G>T (p.Lys131Asn) c.*113G>T (n.*113G>T) c.436G>T (p.Val146Phe) c.456G>T (p.Lys152Asn) n.808G>T c.492G>T (p.Lys164Asn) c.*42G>T (n.*42G>T) c.487G>T (p.Val163Phe) c.-48G>T (n.-48G>T) c.*621G>T (n.*621G>T) |