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 |
|---|---|---|---|---|---|
| 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) | ClinVar 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) | |
| 7 | g.76304013T>A | CA367765836 | HSPB1 | c.458T>A (p.Val153Asp) c.*49T>A (n.*49T>A) c.453T>A (p.Ser151Arg) c.394T>A (p.Phe132Ile) c.*114T>A (n.*114T>A) c.437T>A (p.Val146Asp) c.457T>A (p.Phe153Ile) n.809T>A c.493T>A (p.Phe165Ile) c.*43T>A (n.*43T>A) c.488T>A (p.Val163Asp) c.-47T>A (n.-47T>A) c.*622T>A (n.*622T>A) | |
| 7 | g.76304013T>C | CA367765838 | HSPB1 | c.458T>C (p.Val153Ala) c.*49T>C (n.*49T>C) c.453T>C (p.Ser151=) c.394T>C (p.Phe132Leu) c.*114T>C (n.*114T>C) c.437T>C (p.Val146Ala) c.457T>C (p.Phe153Leu) n.809T>C c.493T>C (p.Phe165Leu) c.*43T>C (n.*43T>C) c.488T>C (p.Val163Ala) c.-47T>C (n.-47T>C) c.*622T>C (n.*622T>C) | gnomAD v4 |
| 7 | g.76304013T>G | CA367765840 | HSPB1 | c.458T>G (p.Val153Gly) c.*49T>G (n.*49T>G) c.453T>G (p.Ser151Arg) c.394T>G (p.Phe132Val) c.*114T>G (n.*114T>G) c.437T>G (p.Val146Gly) c.457T>G (p.Phe153Val) n.809T>G c.493T>G (p.Phe165Val) c.*43T>G (n.*43T>G) c.488T>G (p.Val163Gly) c.-47T>G (n.-47T>G) c.*622T>G (n.*622T>G) | |
| 7 | g.76304014T>A | CA456330497 | HSPB1 | c.459T>A (p.Val153=) c.*50T>A (n.*50T>A) c.454T>A (p.Phe152Ile) c.395T>A (p.Phe132Tyr) c.*115T>A (n.*115T>A) c.438T>A (p.Val146=) c.458T>A (p.Phe153Tyr) n.810T>A c.494T>A (p.Phe165Tyr) c.*44T>A (n.*44T>A) c.489T>A (p.Val163=) c.-46T>A (n.-46T>A) c.*623T>A (n.*623T>A) | |
| 7 | g.76304014T>C | CA456330499 | HSPB1 | c.459T>C (p.Val153=) c.*50T>C (n.*50T>C) c.454T>C (p.Phe152Leu) c.395T>C (p.Phe132Ser) c.*115T>C (n.*115T>C) c.438T>C (p.Val146=) c.458T>C (p.Phe153Ser) n.810T>C c.494T>C (p.Phe165Ser) c.*44T>C (n.*44T>C) c.489T>C (p.Val163=) c.-46T>C (n.-46T>C) c.*623T>C (n.*623T>C) | ClinVar dbSNP gnomAD v4 |
| 7 | g.76304014T>G | CA456330500 | HSPB1 | c.459T>G (p.Val153=) c.*50T>G (n.*50T>G) c.454T>G (p.Phe152Val) c.395T>G (p.Phe132Cys) c.*115T>G (n.*115T>G) c.438T>G (p.Val146=) c.458T>G (p.Phe153Cys) n.810T>G c.494T>G (p.Phe165Cys) c.*44T>G (n.*44T>G) c.489T>G (p.Val163=) c.-46T>G (n.-46T>G) c.*623T>G (n.*623T>G) | dbSNP gnomAD v4 |
| 7 | g.76304014T= | CA1718331367 | HSPB1 | c.459T= (p.Val153=) c.*50T= (n.*50T=) c.454T= (p.Phe152=) c.395T= (p.Phe132=) c.*115T= (n.*115T=) c.438T= (p.Val146=) c.458T= (p.Phe153=) n.810T= c.494T= (p.Phe165=) c.*44T= (n.*44T=) c.489T= (p.Val163=) c.-46T= (n.-46T=) c.*623T= (n.*623T=) | |
| 7 | g.76304015T>A | CA367765843 | HSPB1 | c.460T>A (p.Ser154Thr) c.*51T>A (n.*51T>A) c.455T>A (p.Phe152Tyr) c.396T>A (p.Phe132Leu) c.*116T>A (n.*116T>A) c.439T>A (p.Ser147Thr) c.459T>A (p.Phe153Leu) n.811T>A c.495T>A (p.Phe165Leu) c.*45T>A (n.*45T>A) c.490T>A (p.Ser164Thr) c.-45T>A (n.-45T>A) c.*624T>A (n.*624T>A) | |
| 7 | g.76304015T>C | CA367765845 | HSPB1 | c.460T>C (p.Ser154Pro) c.*51T>C (n.*51T>C) c.455T>C (p.Phe152Ser) c.396T>C (p.Phe132=) c.*116T>C (n.*116T>C) c.439T>C (p.Ser147Pro) c.459T>C (p.Phe153=) n.811T>C c.495T>C (p.Phe165=) c.*45T>C (n.*45T>C) c.490T>C (p.Ser164Pro) c.-45T>C (n.-45T>C) c.*624T>C (n.*624T>C) | |
| 7 | g.76304015T>G | CA367765847 | HSPB1 | c.460T>G (p.Ser154Ala) c.*51T>G (n.*51T>G) c.455T>G (p.Phe152Cys) c.396T>G (p.Phe132Leu) c.*116T>G (n.*116T>G) c.439T>G (p.Ser147Ala) c.459T>G (p.Phe153Leu) n.811T>G c.495T>G (p.Phe165Leu) c.*45T>G (n.*45T>G) c.490T>G (p.Ser164Ala) c.-45T>G (n.-45T>G) c.*624T>G (n.*624T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.76304015T= | CA1718331371 | HSPB1 | c.460T= (p.Ser154=) c.*51T= (n.*51T=) c.455T= (p.Phe152=) c.396T= (p.Phe132=) c.*116T= (n.*116T=) c.439T= (p.Ser147=) c.459T= (p.Phe153=) n.811T= c.495T= (p.Phe165=) c.*45T= (n.*45T=) c.490T= (p.Ser164=) c.-45T= (n.-45T=) c.*624T= (n.*624T=) | |
| 7 | g.76304021_76304023del | CA2578917000 | HSPB1 | c.466_468del (p.Ser156del) c.*57_*59del (n.*57_*59del) c.461_463del (p.Leu154del) c.402_404del (p.Pro135del) c.*122_*124del (n.*122_*124del) c.445_447del (p.Ser149del) c.465_467del (p.Pro156del) n.817_819del c.501_503del (p.Pro168del) c.*51_*53del (n.*51_*53del) c.496_498del (p.Ser166del) c.-39_-37del (n.-39_-37del) c.*630_*632del (n.*630_*632del) | ClinVar dbSNP gnomAD v4 |
| 7 | g.76304016C>A | CA367765850 | HSPB1 | c.461C>A (p.Ser154Tyr) c.*52C>A (n.*52C>A) c.456C>A (p.Phe152Leu) c.397C>A (p.Pro133Thr) c.*117C>A (n.*117C>A) c.440C>A (p.Ser147Tyr) c.460C>A (p.Pro154Thr) n.812C>A c.496C>A (p.Pro166Thr) c.*46C>A (n.*46C>A) c.491C>A (p.Ser164Tyr) c.-44C>A (n.-44C>A) c.*625C>A (n.*625C>A) | dbSNP gnomAD v4 |
| 7 | g.76304016C= | CA1718331378 | HSPB1 | c.461C= (p.Ser154=) c.*52C= (n.*52C=) c.456C= (p.Phe152=) c.397C= (p.Pro133=) c.*117C= (n.*117C=) c.440C= (p.Ser147=) c.460C= (p.Pro154=) n.812C= c.496C= (p.Pro166=) c.*46C= (n.*46C=) c.491C= (p.Ser164=) c.-44C= (n.-44C=) c.*625C= (n.*625C=) | |
| 7 | g.76304016C>G | CA367765852 | HSPB1 | c.461C>G (p.Ser154Cys) c.*52C>G (n.*52C>G) c.456C>G (p.Phe152Leu) c.397C>G (p.Pro133Ala) c.*117C>G (n.*117C>G) c.440C>G (p.Ser147Cys) c.460C>G (p.Pro154Ala) n.812C>G c.496C>G (p.Pro166Ala) c.*46C>G (n.*46C>G) c.491C>G (p.Ser164Cys) c.-44C>G (n.-44C>G) c.*625C>G (n.*625C>G) | |
| 7 | g.76304016C>T | CA4306426 | HSPB1 | c.461C>T (p.Ser154Phe) c.*52C>T (n.*52C>T) c.456C>T (p.Phe152=) c.397C>T (p.Pro133Ser) c.*117C>T (n.*117C>T) c.440C>T (p.Ser147Phe) c.460C>T (p.Pro154Ser) n.812C>T c.496C>T (p.Pro166Ser) c.*46C>T (n.*46C>T) c.491C>T (p.Ser164Phe) c.-44C>T (n.-44C>T) c.*625C>T (n.*625C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.76304017C>A | CA456330501 | HSPB1 | c.462C>A (p.Ser154=) c.*53C>A (n.*53C>A) c.457C>A (p.Leu153Ile) c.398C>A (p.Pro133His) c.*118C>A (n.*118C>A) c.441C>A (p.Ser147=) c.461C>A (p.Pro154His) n.813C>A c.497C>A (p.Pro166His) c.*47C>A (n.*47C>A) c.492C>A (p.Ser164=) c.-43C>A (n.-43C>A) c.*626C>A (n.*626C>A) | |
| 7 | g.76304017C= | CA1718331381 | HSPB1 | c.462C= (p.Ser154=) c.*53C= (n.*53C=) c.457C= (p.Leu153=) c.398C= (p.Pro133=) c.*118C= (n.*118C=) c.441C= (p.Ser147=) c.461C= (p.Pro154=) n.813C= c.497C= (p.Pro166=) c.*47C= (n.*47C=) c.492C= (p.Ser164=) c.-43C= (n.-43C=) c.*626C= (n.*626C=) | |
| 7 | g.76304017C>G | CA456330502 | HSPB1 | c.462C>G (p.Ser154=) c.*53C>G (n.*53C>G) c.457C>G (p.Leu153Val) c.398C>G (p.Pro133Arg) c.*118C>G (n.*118C>G) c.441C>G (p.Ser147=) c.461C>G (p.Pro154Arg) n.813C>G c.497C>G (p.Pro166Arg) c.*47C>G (n.*47C>G) c.492C>G (p.Ser164=) c.-43C>G (n.-43C>G) c.*626C>G (n.*626C>G) | |
| 7 | g.76304017C>T | CA456330503 | HSPB1 | c.462C>T (p.Ser154=) c.*53C>T (n.*53C>T) c.457C>T (p.Leu153Phe) c.398C>T (p.Pro133Leu) c.*118C>T (n.*118C>T) c.441C>T (p.Ser147=) c.461C>T (p.Pro154Leu) n.813C>T c.497C>T (p.Pro166Leu) c.*47C>T (n.*47C>T) c.492C>T (p.Ser164=) c.-43C>T (n.-43C>T) c.*626C>T (n.*626C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.76304018T>A | CA367765856 | HSPB1 | c.463T>A (p.Ser155Thr) c.*54T>A (n.*54T>A) c.458T>A (p.Leu153His) c.399T>A (p.Pro133=) c.*119T>A (n.*119T>A) c.442T>A (p.Ser148Thr) c.462T>A (p.Pro154=) n.814T>A c.498T>A (p.Pro166=) c.*48T>A (n.*48T>A) c.493T>A (p.Ser165Thr) c.-42T>A (n.-42T>A) c.*627T>A (n.*627T>A) | |
| 7 | g.76304018T>C | CA367765861 | HSPB1 | c.463T>C (p.Ser155Pro) c.*54T>C (n.*54T>C) c.458T>C (p.Leu153Pro) c.399T>C (p.Pro133=) c.*119T>C (n.*119T>C) c.442T>C (p.Ser148Pro) c.462T>C (p.Pro154=) n.814T>C c.498T>C (p.Pro166=) c.*48T>C (n.*48T>C) c.493T>C (p.Ser165Pro) c.-42T>C (n.-42T>C) c.*627T>C (n.*627T>C) | |
| 7 | g.76304018T>G | CA367765859 | HSPB1 | c.463T>G (p.Ser155Ala) c.*54T>G (n.*54T>G) c.458T>G (p.Leu153Arg) c.399T>G (p.Pro133=) c.*119T>G (n.*119T>G) c.442T>G (p.Ser148Ala) c.462T>G (p.Pro154=) n.814T>G c.498T>G (p.Pro166=) c.*48T>G (n.*48T>G) c.493T>G (p.Ser165Ala) c.-42T>G (n.-42T>G) c.*627T>G (n.*627T>G) | |
| 7 | g.76304019C>A | CA367765862 | HSPB1 | c.464C>A (p.Ser155Tyr) c.*55C>A (n.*55C>A) c.459C>A (p.Leu153=) c.400C>A (p.Pro134Thr) c.*120C>A (n.*120C>A) c.443C>A (p.Ser148Tyr) c.463C>A (p.Pro155Thr) n.815C>A c.499C>A (p.Pro167Thr) c.*49C>A (n.*49C>A) c.494C>A (p.Ser165Tyr) c.-41C>A (n.-41C>A) c.*628C>A (n.*628C>A) | |
| 7 | g.76304019C= | CA1718331383 | HSPB1 | c.464C= (p.Ser155=) c.*55C= (n.*55C=) c.459C= (p.Leu153=) c.400C= (p.Pro134=) c.*120C= (n.*120C=) c.443C= (p.Ser148=) c.463C= (p.Pro155=) n.815C= c.499C= (p.Pro167=) c.*49C= (n.*49C=) c.494C= (p.Ser165=) c.-41C= (n.-41C=) c.*628C= (n.*628C=) | |
| 7 | g.76304019C>G | CA367765864 | HSPB1 | c.464C>G (p.Ser155Cys) c.*55C>G (n.*55C>G) c.459C>G (p.Leu153=) c.400C>G (p.Pro134Ala) c.*120C>G (n.*120C>G) c.443C>G (p.Ser148Cys) c.463C>G (p.Pro155Ala) n.815C>G c.499C>G (p.Pro167Ala) c.*49C>G (n.*49C>G) c.494C>G (p.Ser165Cys) c.-41C>G (n.-41C>G) c.*628C>G (n.*628C>G) | |
| 7 | g.76304019C>T | CA367765866 | HSPB1 | c.464C>T (p.Ser155Phe) c.*55C>T (n.*55C>T) c.459C>T (p.Leu153=) c.400C>T (p.Pro134Ser) c.*120C>T (n.*120C>T) c.443C>T (p.Ser148Phe) c.463C>T (p.Pro155Ser) n.815C>T c.499C>T (p.Pro167Ser) c.*49C>T (n.*49C>T) c.494C>T (p.Ser165Phe) c.-41C>T (n.-41C>T) c.*628C>T (n.*628C>T) | dbSNP gnomAD v4 |
| 7 | g.76304020C>A | CA456330508 | HSPB1 | c.465C>A (p.Ser155=) c.*56C>A (n.*56C>A) c.460C>A (p.Leu154Ile) c.401C>A (p.Pro134His) c.*121C>A (n.*121C>A) c.444C>A (p.Ser148=) c.464C>A (p.Pro155His) n.816C>A c.500C>A (p.Pro167His) c.*50C>A (n.*50C>A) c.495C>A (p.Ser165=) c.-40C>A (n.-40C>A) c.*629C>A (n.*629C>A) | |
| 7 | g.76304020C>G | CA456330509 | HSPB1 | c.465C>G (p.Ser155=) c.*56C>G (n.*56C>G) c.460C>G (p.Leu154Val) c.401C>G (p.Pro134Arg) c.*121C>G (n.*121C>G) c.444C>G (p.Ser148=) c.464C>G (p.Pro155Arg) n.816C>G c.500C>G (p.Pro167Arg) c.*50C>G (n.*50C>G) c.495C>G (p.Ser165=) c.-40C>G (n.-40C>G) c.*629C>G (n.*629C>G) | |
| 7 | g.76304020C>T | CA456330510 | HSPB1 | c.465C>T (p.Ser155=) c.*56C>T (n.*56C>T) c.460C>T (p.Leu154Phe) c.401C>T (p.Pro134Leu) c.*121C>T (n.*121C>T) c.444C>T (p.Ser148=) c.464C>T (p.Pro155Leu) n.816C>T c.500C>T (p.Pro167Leu) c.*50C>T (n.*50C>T) c.495C>T (p.Ser165=) c.-40C>T (n.-40C>T) c.*629C>T (n.*629C>T) | |
| 7 | g.76304021T>A | CA367765867 | HSPB1 | c.466T>A (p.Ser156Thr) c.*57T>A (n.*57T>A) c.461T>A (p.Leu154His) c.402T>A (p.Pro134=) c.*122T>A (n.*122T>A) c.445T>A (p.Ser149Thr) c.465T>A (p.Pro155=) n.817T>A c.501T>A (p.Pro167=) c.*51T>A (n.*51T>A) c.496T>A (p.Ser166Thr) c.-39T>A (n.-39T>A) c.*630T>A (n.*630T>A) | |
| 7 | g.76304021T>C | CA367765869 | HSPB1 | c.466T>C (p.Ser156Pro) c.*57T>C (n.*57T>C) c.461T>C (p.Leu154Pro) c.402T>C (p.Pro134=) c.*122T>C (n.*122T>C) c.445T>C (p.Ser149Pro) c.465T>C (p.Pro155=) n.817T>C c.501T>C (p.Pro167=) c.*51T>C (n.*51T>C) c.496T>C (p.Ser166Pro) c.-39T>C (n.-39T>C) c.*630T>C (n.*630T>C) | |
| 7 | g.76304021T>G | CA367765871 | HSPB1 | c.466T>G (p.Ser156Ala) c.*57T>G (n.*57T>G) c.461T>G (p.Leu154Arg) c.402T>G (p.Pro134=) c.*122T>G (n.*122T>G) c.445T>G (p.Ser149Ala) c.465T>G (p.Pro155=) n.817T>G c.501T>G (p.Pro167=) c.*51T>G (n.*51T>G) c.496T>G (p.Ser166Ala) c.-39T>G (n.-39T>G) c.*630T>G (n.*630T>G) | |
| 7 | g.76304021dup | CA2683409074 | HSPB1 | c.466dup (p.Ser156PhefsTer5) c.*57dup (n.*57dup) c.461dup (p.Val156CysfsTer7) c.402dup (p.Pro135SerfsTer?) c.*122dup (n.*122dup) c.445dup (p.Ser149PhefsTer5) c.465dup (p.Pro156SerfsTer?) n.817dup c.501dup (p.Pro168SerfsTer?) c.*51dup (n.*51dup) c.496dup (p.Ser166PhefsTer5) c.-39dup (n.-39dup) c.*630dup (n.*630dup) | gnomAD v4 |
| 7 | g.76304022C>A | CA367765873 | HSPB1 | c.467C>A (p.Ser156Tyr) c.*58C>A (n.*58C>A) c.462C>A (p.Leu154=) c.403C>A (p.Pro135Thr) c.*123C>A (n.*123C>A) c.446C>A (p.Ser149Tyr) c.466C>A (p.Pro156Thr) n.818C>A c.502C>A (p.Pro168Thr) c.*52C>A (n.*52C>A) c.497C>A (p.Ser166Tyr) c.-38C>A (n.-38C>A) c.*631C>A (n.*631C>A) | dbSNP gnomAD v2 |
| 7 | g.76304022C= | CA1718331386 | HSPB1 | c.467C= (p.Ser156=) c.*58C= (n.*58C=) c.462C= (p.Leu154=) c.403C= (p.Pro135=) c.*123C= (n.*123C=) c.446C= (p.Ser149=) c.466C= (p.Pro156=) n.818C= c.502C= (p.Pro168=) c.*52C= (n.*52C=) c.497C= (p.Ser166=) c.-38C= (n.-38C=) c.*631C= (n.*631C=) | |
| 7 | g.76304022C>G | CA367765876 | HSPB1 | c.467C>G (p.Ser156Cys) c.*58C>G (n.*58C>G) c.462C>G (p.Leu154=) c.403C>G (p.Pro135Ala) c.*123C>G (n.*123C>G) c.446C>G (p.Ser149Cys) c.466C>G (p.Pro156Ala) n.818C>G c.502C>G (p.Pro168Ala) c.*52C>G (n.*52C>G) c.497C>G (p.Ser166Cys) c.-38C>G (n.-38C>G) c.*631C>G (n.*631C>G) |