Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.76304000G>ACA367765756HSPB1c.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)
7g.76304000G>CCA367765758HSPB1c.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)
7g.76304000G=CA1718331327HSPB1c.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=)
7g.76304000G>TCA367765760HSPB1c.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
7g.76304001A>CCA367765772HSPB1c.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)
7g.76304001A>GCA367765770HSPB1c.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)
7g.76304001A>TCA367765768HSPB1c.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)
7g.76304002C>ACA367765776HSPB1c.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
7g.76304002C=CA1718331330HSPB1c.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=)
7g.76304002C>GCA367765778HSPB1c.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)
7g.76304002C>TCA160901739HSPB1c.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
7g.76304003C>ACA367765782HSPB1c.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)
7g.76304003C=CA1718331333HSPB1c.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=)
7g.76304003C>GCA367765784HSPB1c.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)
7g.76304003C>TCA4306423HSPB1c.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
7g.76304004C>ACA10584284HSPB1c.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
7g.76304004C=CA1718331337HSPB1c.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=)
7g.76304004C>GCA367765790HSPB1c.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)
7g.76304004C>TCA367765792HSPB1c.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)
7g.76304005C>ACA4306424HSPB1c.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
7g.76304005C=CA1718331341HSPB1c.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=)
7g.76304005C>GCA456330482HSPB1c.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)
7g.76304005C>TCA456330483HSPB1c.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
7g.76304006A=CA1718331344HSPB1c.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=)
7g.76304006A>CCA160901747HSPB1c.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
7g.76304006A>GCA4306425HSPB1c.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
7g.76304006A>TCA367765802HSPB1c.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)
7g.76304007C>ACA367765806HSPB1c.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)
7g.76304007C=CA1718331351HSPB1c.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=)
7g.76304007C>GCA160901749HSPB1c.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
7g.76304007C>TCA118824HSPB1c.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
7g.76304008C>ACA456330487HSPB1c.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
7g.76304008C>GCA456330488HSPB1c.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
7g.76304008C>TCA456330489HSPB1c.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
7g.76304009C>ACA367765810HSPB1c.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)
7g.76304009C>GCA367765814HSPB1c.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
7g.76304009C>TCA367765812HSPB1c.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)
7g.76304010A=CA1718331359HSPB1c.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=)
7g.76304010A>CCA367765816HSPB1c.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
7g.76304010A>GCA367765821HSPB1c.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
7g.76304010A>TCA367765819HSPB1c.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)
7g.76304010_76304011delCA2683409070HSPB1c.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
7g.76304011A=CA1718331362HSPB1c.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=)
7g.76304011A>CCA367765824HSPB1c.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
7g.76304011A>GCA456330496HSPB1c.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
7g.76304011A>TCA367765827HSPB1c.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)
7g.76304012G>ACA367765829HSPB1c.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
7g.76304012G>CCA367765832HSPB1c.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
7g.76304012G=CA1718331365HSPB1c.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=)
7g.76304012G>TCA367765834HSPB1c.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)

Number of alleles fetched