Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.31816406T>ACA363409663HSPA1A,HSPA1Lc.650T>A (p.Phe217Tyr)
c.155T>A (p.Phe52Tyr)
c.-13-4421A>T (n.-13-4421A>T)
6g.31816406T>CCA363409662HSPA1A,HSPA1Lc.650T>C (p.Phe217Ser)
c.155T>C (p.Phe52Ser)
c.-13-4421A>G (n.-13-4421A>G)
6g.31816406T>GCA363409645HSPA1A,HSPA1Lc.650T>G (p.Phe217Cys)
c.155T>G (p.Phe52Cys)
c.-13-4421A>C (n.-13-4421A>C)
gnomAD v4
6g.31816407C>ACA363409664HSPA1A,HSPA1Lc.651C>A (p.Phe217Leu)
c.156C>A (p.Phe52Leu)
c.-13-4422G>T (n.-13-4422G>T)
6g.31816407C>GCA363409666HSPA1A,HSPA1Lc.651C>G (p.Phe217Leu)
c.156C>G (p.Phe52Leu)
c.-13-4422G>C (n.-13-4422G>C)
6g.31816407C>TCA449805790HSPA1A,HSPA1Lc.651C>T (p.Phe217=)
c.156C>T (p.Phe52=)
c.-13-4422G>A (n.-13-4422G>A)
6g.31816408G>ACA363409679HSPA1A,HSPA1Lc.652G>A (p.Glu218Lys)
c.157G>A (p.Glu53Lys)
c.-13-4423C>T (n.-13-4423C>T)
6g.31816408G>CCA363409695HSPA1A,HSPA1Lc.652G>C (p.Glu218Gln)
c.157G>C (p.Glu53Gln)
c.-13-4423C>G (n.-13-4423C>G)
6g.31816408G>TCA363409693HSPA1A,HSPA1Lc.652G>T (p.Glu218Ter)
c.157G>T (p.Glu53Ter)
c.-13-4423C>A (n.-13-4423C>A)
6g.31816409A>CCA363409703HSPA1A,HSPA1Lc.653A>C (p.Glu218Ala)
c.158A>C (p.Glu53Ala)
c.-13-4424T>G (n.-13-4424T>G)
6g.31816409A>GCA363409734HSPA1A,HSPA1Lc.653A>G (p.Glu218Gly)
c.158A>G (p.Glu53Gly)
c.-13-4424T>C (n.-13-4424T>C)
6g.31816409A>TCA363409715HSPA1A,HSPA1Lc.653A>T (p.Glu218Val)
c.158A>T (p.Glu53Val)
c.-13-4424T>A (n.-13-4424T>A)
6g.31816410G>ACA449805798HSPA1A,HSPA1Lc.654G>A (p.Glu218=)
c.159G>A (p.Glu53=)
c.-13-4425C>T (n.-13-4425C>T)
6g.31816410G>CCA363409738HSPA1A,HSPA1Lc.654G>C (p.Glu218Asp)
c.159G>C (p.Glu53Asp)
c.-13-4425C>G (n.-13-4425C>G)
6g.31816410G>TCA363409740HSPA1A,HSPA1Lc.654G>T (p.Glu218Asp)
c.159G>T (p.Glu53Asp)
c.-13-4425C>A (n.-13-4425C>A)
6g.31816411G>ACA363409746HSPA1A,HSPA1Lc.655G>A (p.Val219Met)
c.160G>A (p.Val54Met)
c.-13-4426C>T (n.-13-4426C>T)
6g.31816411G>CCA363409749HSPA1A,HSPA1Lc.655G>C (p.Val219Leu)
c.160G>C (p.Val54Leu)
c.-13-4426C>G (n.-13-4426C>G)
gnomAD v4
6g.31816411G>TCA363409754HSPA1A,HSPA1Lc.655G>T (p.Val219Leu)
c.160G>T (p.Val54Leu)
c.-13-4426C>A (n.-13-4426C>A)
6g.31816412T>ACA363409755HSPA1A,HSPA1Lc.656T>A (p.Val219Glu)
c.161T>A (p.Val54Glu)
c.-13-4427A>T (n.-13-4427A>T)
gnomAD v4
6g.31816412T>CCA363409757HSPA1A,HSPA1Lc.656T>C (p.Val219Ala)
c.161T>C (p.Val54Ala)
c.-13-4427A>G (n.-13-4427A>G)
6g.31816412T>GCA363409763HSPA1A,HSPA1Lc.656T>G (p.Val219Gly)
c.161T>G (p.Val54Gly)
c.-13-4427A>C (n.-13-4427A>C)
gnomAD v4
6g.31816413G>ACA449805805HSPA1A,HSPA1Lc.657G>A (p.Val219=)
c.162G>A (p.Val54=)
c.-13-4428C>T (n.-13-4428C>T)
6g.31816413G>CCA449805807HSPA1A,HSPA1Lc.657G>C (p.Val219=)
c.162G>C (p.Val54=)
c.-13-4428C>G (n.-13-4428C>G)
6g.31816413G>TCA449805808HSPA1A,HSPA1Lc.657G>T (p.Val219=)
c.162G>T (p.Val54=)
c.-13-4428C>A (n.-13-4428C>A)
6g.31816414A>CCA363409768HSPA1A,HSPA1Lc.658A>C (p.Lys220Gln)
c.163A>C (p.Lys55Gln)
c.-13-4429T>G (n.-13-4429T>G)
gnomAD v4
6g.31816414A>GCA363409771HSPA1A,HSPA1Lc.658A>G (p.Lys220Glu)
c.163A>G (p.Lys55Glu)
c.-13-4429T>C (n.-13-4429T>C)
6g.31816414A>TCA363409777HSPA1A,HSPA1Lc.658A>T (p.Lys220Ter)
c.163A>T (p.Lys55Ter)
c.-13-4429T>A (n.-13-4429T>A)
6g.31816415A>CCA363409782HSPA1A,HSPA1Lc.659A>C (p.Lys220Thr)
c.164A>C (p.Lys55Thr)
c.-13-4430T>G (n.-13-4430T>G)
gnomAD v4
6g.31816415A>GCA363409784HSPA1A,HSPA1Lc.659A>G (p.Lys220Arg)
c.164A>G (p.Lys55Arg)
c.-13-4430T>C (n.-13-4430T>C)
6g.31816415A>TCA363409789HSPA1A,HSPA1Lc.659A>T (p.Lys220Met)
c.164A>T (p.Lys55Met)
c.-13-4430T>A (n.-13-4430T>A)
6g.31816416G>ACA449805811HSPA1A,HSPA1Lc.660G>A (p.Lys220=)
c.165G>A (p.Lys55=)
c.-13-4431C>T (n.-13-4431C>T)
6g.31816416G>CCA363409807HSPA1A,HSPA1Lc.660G>C (p.Lys220Asn)
c.165G>C (p.Lys55Asn)
c.-13-4431C>G (n.-13-4431C>G)
6g.31816416G>TCA363409803HSPA1A,HSPA1Lc.660G>T (p.Lys220Asn)
c.165G>T (p.Lys55Asn)
c.-13-4431C>A (n.-13-4431C>A)
6g.31816417G>ACA363409811HSPA1A,HSPA1Lc.661G>A (p.Ala221Thr)
c.166G>A (p.Ala56Thr)
c.-13-4432C>T (n.-13-4432C>T)
6g.31816417G>CCA363409817HSPA1A,HSPA1Lc.661G>C (p.Ala221Pro)
c.166G>C (p.Ala56Pro)
c.-13-4432C>G (n.-13-4432C>G)
6g.31816417G>TCA363409818HSPA1A,HSPA1Lc.661G>T (p.Ala221Ser)
c.166G>T (p.Ala56Ser)
c.-13-4432C>A (n.-13-4432C>A)
gnomAD v4
6g.31816418C>ACA363409819HSPA1A,HSPA1Lc.662C>A (p.Ala221Asp)
c.167C>A (p.Ala56Asp)
c.-13-4433G>T (n.-13-4433G>T)
6g.31816418C>GCA363409821HSPA1A,HSPA1Lc.662C>G (p.Ala221Gly)
c.167C>G (p.Ala56Gly)
c.-13-4433G>C (n.-13-4433G>C)
6g.31816418C>TCA363409824HSPA1A,HSPA1Lc.662C>T (p.Ala221Val)
c.167C>T (p.Ala56Val)
c.-13-4433G>A (n.-13-4433G>A)
6g.31816419C>ACA449805816HSPA1A,HSPA1Lc.663C>A (p.Ala221=)
c.168C>A (p.Ala56=)
c.-13-4434G>T (n.-13-4434G>T)
6g.31816419C>GCA449805817HSPA1A,HSPA1Lc.663C>G (p.Ala221=)
c.168C>G (p.Ala56=)
c.-13-4434G>C (n.-13-4434G>C)
6g.31816419C>TCA449805818HSPA1A,HSPA1Lc.663C>T (p.Ala221=)
c.168C>T (p.Ala56=)
c.-13-4434G>A (n.-13-4434G>A)
6g.31816420A>CCA363409828HSPA1A,HSPA1Lc.664A>C (p.Thr222Pro)
c.169A>C (p.Thr57Pro)
c.-13-4435T>G (n.-13-4435T>G)
6g.31816420A>GCA363409837HSPA1A,HSPA1Lc.664A>G (p.Thr222Ala)
c.169A>G (p.Thr57Ala)
c.-13-4435T>C (n.-13-4435T>C)
6g.31816420A>TCA363409841HSPA1A,HSPA1Lc.664A>T (p.Thr222Ser)
c.169A>T (p.Thr57Ser)
c.-13-4435T>A (n.-13-4435T>A)
6g.31816421C>ACA363409847HSPA1A,HSPA1Lc.665C>A (p.Thr222Lys)
c.170C>A (p.Thr57Lys)
c.-13-4436G>T (n.-13-4436G>T)
gnomAD v4
6g.31816421C>GCA363409851HSPA1A,HSPA1Lc.665C>G (p.Thr222Arg)
c.170C>G (p.Thr57Arg)
c.-13-4436G>C (n.-13-4436G>C)
6g.31816421C>TCA363409853HSPA1A,HSPA1Lc.665C>T (p.Thr222Met)
c.170C>T (p.Thr57Met)
c.-13-4436G>A (n.-13-4436G>A)
gnomAD v4
6g.31816422G>ACA449805822HSPA1A,HSPA1Lc.666G>A (p.Thr222=)
c.171G>A (p.Thr57=)
c.-13-4437C>T (n.-13-4437C>T)
6g.31816422G>CCA449805823HSPA1A,HSPA1Lc.666G>C (p.Thr222=)
c.171G>C (p.Thr57=)
c.-13-4437C>G (n.-13-4437C>G)
6g.31816422G>TCA449805824HSPA1A,HSPA1Lc.666G>T (p.Thr222=)
c.171G>T (p.Thr57=)
c.-13-4437C>A (n.-13-4437C>A)
6g.31816423G>ACA363409862HSPA1A,HSPA1Lc.667G>A (p.Ala223Thr)
c.172G>A (p.Ala58Thr)
c.-13-4438C>T (n.-13-4438C>T)
6g.31816423G>CCA363409860HSPA1A,HSPA1Lc.667G>C (p.Ala223Pro)
c.172G>C (p.Ala58Pro)
c.-13-4438C>G (n.-13-4438C>G)
6g.31816423G>TCA363409858HSPA1A,HSPA1Lc.667G>T (p.Ala223Ser)
c.172G>T (p.Ala58Ser)
c.-13-4438C>A (n.-13-4438C>A)
6g.31816424C>ACA363409865HSPA1A,HSPA1Lc.668C>A (p.Ala223Asp)
c.173C>A (p.Ala58Asp)
c.-13-4439G>T (n.-13-4439G>T)
6g.31816424C>GCA363409869HSPA1A,HSPA1Lc.668C>G (p.Ala223Gly)
c.173C>G (p.Ala58Gly)
c.-13-4439G>C (n.-13-4439G>C)
6g.31816424C>TCA363409881HSPA1A,HSPA1Lc.668C>T (p.Ala223Val)
c.173C>T (p.Ala58Val)
c.-13-4439G>A (n.-13-4439G>A)
6g.31816425C>ACA449805829HSPA1A,HSPA1Lc.669C>A (p.Ala223=)
c.174C>A (p.Ala58=)
c.-13-4440G>T (n.-13-4440G>T)
gnomAD v4
6g.31816425C>GCA449805830HSPA1A,HSPA1Lc.669C>G (p.Ala223=)
c.174C>G (p.Ala58=)
c.-13-4440G>C (n.-13-4440G>C)
6g.31816425C>TCA449805831HSPA1A,HSPA1Lc.669C>T (p.Ala223=)
c.174C>T (p.Ala58=)
c.-13-4440G>A (n.-13-4440G>A)
6g.31816426G>ACA363409887HSPA1A,HSPA1Lc.670G>A (p.Gly224Arg)
c.175G>A (p.Gly59Arg)
c.-13-4441C>T (n.-13-4441C>T)
gnomAD v4
6g.31816426G>CCA363409891HSPA1A,HSPA1Lc.670G>C (p.Gly224Arg)
c.175G>C (p.Gly59Arg)
c.-13-4441C>G (n.-13-4441C>G)
6g.31816426G>TCA363409896HSPA1A,HSPA1Lc.670G>T (p.Gly224Trp)
c.175G>T (p.Gly59Trp)
c.-13-4441C>A (n.-13-4441C>A)
6g.31816429delCA2678043297HSPA1A,HSPA1Lc.673del (p.Asp225ThrfsTer14)
c.178del (p.Asp60ThrfsTer14)
c.-13-4441del (n.-13-4441del)
gnomAD v4
6g.31816427G>ACA363409901HSPA1A,HSPA1Lc.671G>A (p.Gly224Glu)
c.176G>A (p.Gly59Glu)
c.-13-4442C>T (n.-13-4442C>T)
6g.31816427G>CCA363409902HSPA1A,HSPA1Lc.671G>C (p.Gly224Ala)
c.176G>C (p.Gly59Ala)
c.-13-4442C>G (n.-13-4442C>G)
6g.31816427G>TCA363409903HSPA1A,HSPA1Lc.671G>T (p.Gly224Val)
c.176G>T (p.Gly59Val)
c.-13-4442C>A (n.-13-4442C>A)
6g.31816428G>ACA449805836HSPA1A,HSPA1Lc.672G>A (p.Gly224=)
c.177G>A (p.Gly59=)
c.-13-4443C>T (n.-13-4443C>T)
gnomAD v4
6g.31816428G>CCA449805837HSPA1A,HSPA1Lc.672G>C (p.Gly224=)
c.177G>C (p.Gly59=)
c.-13-4443C>G (n.-13-4443C>G)
6g.31816428G>TCA449805838HSPA1A,HSPA1Lc.672G>T (p.Gly224=)
c.177G>T (p.Gly59=)
c.-13-4443C>A (n.-13-4443C>A)
6g.31816429G>ACA363409909HSPA1A,HSPA1Lc.673G>A (p.Asp225Asn)
c.178G>A (p.Asp60Asn)
c.-13-4444C>T (n.-13-4444C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31816429G>CCA363409911HSPA1A,HSPA1Lc.673G>C (p.Asp225His)
c.178G>C (p.Asp60His)
c.-13-4444C>G (n.-13-4444C>G)
6g.31816429G=CA1619307523HSPA1A,HSPA1Lc.673G= (p.Asp225=)
c.178G= (p.Asp60=)
c.-13-4444C= (n.-13-4444C=)
6g.31816429G>TCA363409913HSPA1A,HSPA1Lc.673G>T (p.Asp225Tyr)
c.178G>T (p.Asp60Tyr)
c.-13-4444C>A (n.-13-4444C>A)
6g.31816430A>CCA363409921HSPA1A,HSPA1Lc.674A>C (p.Asp225Ala)
c.179A>C (p.Asp60Ala)
c.-13-4445T>G (n.-13-4445T>G)
gnomAD v4
6g.31816430A>GCA363409917HSPA1A,HSPA1Lc.674A>G (p.Asp225Gly)
c.179A>G (p.Asp60Gly)
c.-13-4445T>C (n.-13-4445T>C)
6g.31816430A>TCA363409920HSPA1A,HSPA1Lc.674A>T (p.Asp225Val)
c.179A>T (p.Asp60Val)
c.-13-4445T>A (n.-13-4445T>A)
6g.31816431C>ACA363409926HSPA1A,HSPA1Lc.675C>A (p.Asp225Glu)
c.180C>A (p.Asp60Glu)
c.-13-4446G>T (n.-13-4446G>T)
6g.31816431C>GCA363409929HSPA1A,HSPA1Lc.675C>G (p.Asp225Glu)
c.180C>G (p.Asp60Glu)
c.-13-4446G>C (n.-13-4446G>C)
6g.31816431C>TCA449805840HSPA1A,HSPA1Lc.675C>T (p.Asp225=)
c.180C>T (p.Asp60=)
c.-13-4446G>A (n.-13-4446G>A)
6g.31816432A>CCA363409937HSPA1A,HSPA1Lc.676A>C (p.Thr226Pro)
c.181A>C (p.Thr61Pro)
c.-13-4447T>G (n.-13-4447T>G)
gnomAD v4
6g.31816432A>GCA363409948HSPA1A,HSPA1Lc.676A>G (p.Thr226Ala)
c.181A>G (p.Thr61Ala)
c.-13-4447T>C (n.-13-4447T>C)
6g.31816432A>TCA363409957HSPA1A,HSPA1Lc.676A>T (p.Thr226Ser)
c.181A>T (p.Thr61Ser)
c.-13-4447T>A (n.-13-4447T>A)
6g.31816433C>ACA363409962HSPA1A,HSPA1Lc.677C>A (p.Thr226Asn)
c.182C>A (p.Thr61Asn)
c.-13-4448G>T (n.-13-4448G>T)
6g.31816433C>GCA363409967HSPA1A,HSPA1Lc.677C>G (p.Thr226Ser)
c.182C>G (p.Thr61Ser)
c.-13-4448G>C (n.-13-4448G>C)
6g.31816433C>TCA363409969HSPA1A,HSPA1Lc.677C>T (p.Thr226Ile)
c.182C>T (p.Thr61Ile)
c.-13-4448G>A (n.-13-4448G>A)
6g.31816434C>ACA449805845HSPA1A,HSPA1Lc.678C>A (p.Thr226=)
c.183C>A (p.Thr61=)
c.-13-4449G>T (n.-13-4449G>T)
6g.31816434C=CA1619307524HSPA1A,HSPA1Lc.678C= (p.Thr226=)
c.183C= (p.Thr61=)
c.-13-4449G= (n.-13-4449G=)
6g.31816434C>GCA449805846HSPA1A,HSPA1Lc.678C>G (p.Thr226=)
c.183C>G (p.Thr61=)
c.-13-4449G>C (n.-13-4449G>C)
6g.31816434C>TCA449805847HSPA1A,HSPA1Lc.678C>T (p.Thr226=)
c.183C>T (p.Thr61=)
c.-13-4449G>A (n.-13-4449G>A)
dbSNP
6g.31816435C>ACA363409970HSPA1A,HSPA1Lc.679C>A (p.His227Asn)
c.184C>A (p.His62Asn)
c.-13-4450G>T (n.-13-4450G>T)
6g.31816435C>GCA363409971HSPA1A,HSPA1Lc.679C>G (p.His227Asp)
c.184C>G (p.His62Asp)
c.-13-4450G>C (n.-13-4450G>C)
6g.31816435C>TCA363409975HSPA1A,HSPA1Lc.679C>T (p.His227Tyr)
c.184C>T (p.His62Tyr)
c.-13-4450G>A (n.-13-4450G>A)
6g.31816436A>CCA363409989HSPA1A,HSPA1Lc.680A>C (p.His227Pro)
c.185A>C (p.His62Pro)
c.-13-4451T>G (n.-13-4451T>G)
6g.31816436A>GCA363409988HSPA1A,HSPA1Lc.680A>G (p.His227Arg)
c.185A>G (p.His62Arg)
c.-13-4451T>C (n.-13-4451T>C)
6g.31816436A>TCA363409987HSPA1A,HSPA1Lc.680A>T (p.His227Leu)
c.185A>T (p.His62Leu)
c.-13-4451T>A (n.-13-4451T>A)
6g.31816437C>ACA363409990HSPA1A,HSPA1Lc.681C>A (p.His227Gln)
c.186C>A (p.His62Gln)
c.-13-4452G>T (n.-13-4452G>T)
6g.31816437C>GCA363409993HSPA1A,HSPA1Lc.681C>G (p.His227Gln)
c.186C>G (p.His62Gln)
c.-13-4452G>C (n.-13-4452G>C)
6g.31816437C>TCA449805852HSPA1A,HSPA1Lc.681C>T (p.His227=)
c.186C>T (p.His62=)
c.-13-4452G>A (n.-13-4452G>A)
6g.31816438C>ACA363409998HSPA1A,HSPA1Lc.682C>A (p.Leu228Met)
c.187C>A (p.Leu63Met)
c.-13-4453G>T (n.-13-4453G>T)
6g.31816438C>GCA363410000HSPA1A,HSPA1Lc.682C>G (p.Leu228Val)
c.187C>G (p.Leu63Val)
c.-13-4453G>C (n.-13-4453G>C)
6g.31816438C>TCA449805853HSPA1A,HSPA1Lc.682C>T (p.Leu228=)
c.187C>T (p.Leu63=)
c.-13-4453G>A (n.-13-4453G>A)
6g.31816439T>ACA363410010HSPA1A,HSPA1Lc.683T>A (p.Leu228Gln)
c.188T>A (p.Leu63Gln)
c.-13-4454A>T (n.-13-4454A>T)
gnomAD v4
6g.31816439T>CCA363410037HSPA1A,HSPA1Lc.683T>C (p.Leu228Pro)
c.188T>C (p.Leu63Pro)
c.-13-4454A>G (n.-13-4454A>G)
6g.31816439T>GCA363410043HSPA1A,HSPA1Lc.683T>G (p.Leu228Arg)
c.188T>G (p.Leu63Arg)
c.-13-4454A>C (n.-13-4454A>C)
6g.31816440G>ACA449805859HSPA1A,HSPA1Lc.684G>A (p.Leu228=)
c.189G>A (p.Leu63=)
c.-13-4455C>T (n.-13-4455C>T)
6g.31816440G>CCA449805857HSPA1A,HSPA1Lc.684G>C (p.Leu228=)
c.189G>C (p.Leu63=)
c.-13-4455C>G (n.-13-4455C>G)
6g.31816440G>TCA449805858HSPA1A,HSPA1Lc.684G>T (p.Leu228=)
c.189G>T (p.Leu63=)
c.-13-4455C>A (n.-13-4455C>A)
6g.31816441G>ACA363410054HSPA1A,HSPA1Lc.685G>A (p.Gly229Ser)
c.190G>A (p.Gly64Ser)
c.-13-4456C>T (n.-13-4456C>T)
6g.31816441G>CCA363410058HSPA1A,HSPA1Lc.685G>C (p.Gly229Arg)
c.190G>C (p.Gly64Arg)
c.-13-4456C>G (n.-13-4456C>G)
6g.31816441G>TCA363410071HSPA1A,HSPA1Lc.685G>T (p.Gly229Cys)
c.190G>T (p.Gly64Cys)
c.-13-4456C>A (n.-13-4456C>A)
6g.31816442G>ACA363410080HSPA1A,HSPA1Lc.686G>A (p.Gly229Asp)
c.191G>A (p.Gly64Asp)
c.-13-4457C>T (n.-13-4457C>T)
6g.31816442G>CCA363410082HSPA1A,HSPA1Lc.686G>C (p.Gly229Ala)
c.191G>C (p.Gly64Ala)
c.-13-4457C>G (n.-13-4457C>G)
6g.31816442G>TCA363410084HSPA1A,HSPA1Lc.686G>T (p.Gly229Val)
c.191G>T (p.Gly64Val)
c.-13-4457C>A (n.-13-4457C>A)
6g.31816443T>ACA449805864HSPA1A,HSPA1Lc.687T>A (p.Gly229=)
c.192T>A (p.Gly64=)
c.-13-4458A>T (n.-13-4458A>T)
gnomAD v4
6g.31816443T>CCA449805866HSPA1A,HSPA1Lc.687T>C (p.Gly229=)
c.192T>C (p.Gly64=)
c.-13-4458A>G (n.-13-4458A>G)
6g.31816443T>GCA449805865HSPA1A,HSPA1Lc.687T>G (p.Gly229=)
c.192T>G (p.Gly64=)
c.-13-4458A>C (n.-13-4458A>C)
gnomAD v4
6g.31816444G>ACA363410101HSPA1A,HSPA1Lc.688G>A (p.Gly230Arg)
c.193G>A (p.Gly65Arg)
c.-13-4459C>T (n.-13-4459C>T)
6g.31816444G>CCA363410088HSPA1A,HSPA1Lc.688G>C (p.Gly230Arg)
c.193G>C (p.Gly65Arg)
c.-13-4459C>G (n.-13-4459C>G)
6g.31816444G>TCA363410098HSPA1A,HSPA1Lc.688G>T (p.Gly230Trp)
c.193G>T (p.Gly65Trp)
c.-13-4459C>A (n.-13-4459C>A)
6g.31816445G>ACA363410107HSPA1A,HSPA1Lc.689G>A (p.Gly230Glu)
c.194G>A (p.Gly65Glu)
c.-13-4460C>T (n.-13-4460C>T)
6g.31816445G>CCA363410113HSPA1A,HSPA1Lc.689G>C (p.Gly230Ala)
c.194G>C (p.Gly65Ala)
c.-13-4460C>G (n.-13-4460C>G)
6g.31816445G>TCA363410116HSPA1A,HSPA1Lc.689G>T (p.Gly230Val)
c.194G>T (p.Gly65Val)
c.-13-4460C>A (n.-13-4460C>A)
6g.31816446G>ACA449805868HSPA1A,HSPA1Lc.690G>A (p.Gly230=)
c.195G>A (p.Gly65=)
c.-13-4461C>T (n.-13-4461C>T)
gnomAD v4
6g.31816446G>CCA449805871HSPA1A,HSPA1Lc.690G>C (p.Gly230=)
c.195G>C (p.Gly65=)
c.-13-4461C>G (n.-13-4461C>G)
6g.31816446G>TCA449805872HSPA1A,HSPA1Lc.690G>T (p.Gly230=)
c.195G>T (p.Gly65=)
c.-13-4461C>A (n.-13-4461C>A)
6g.31816447G>ACA363410121HSPA1A,HSPA1Lc.691G>A (p.Glu231Lys)
c.196G>A (p.Glu66Lys)
c.-13-4462C>T (n.-13-4462C>T)
6g.31816447G>CCA363410125HSPA1A,HSPA1Lc.691G>C (p.Glu231Gln)
c.196G>C (p.Glu66Gln)
c.-13-4462C>G (n.-13-4462C>G)
6g.31816447G>TCA363410129HSPA1A,HSPA1Lc.691G>T (p.Glu231Ter)
c.196G>T (p.Glu66Ter)
c.-13-4462C>A (n.-13-4462C>A)
6g.31816448A>CCA363410143HSPA1A,HSPA1Lc.692A>C (p.Glu231Ala)
c.197A>C (p.Glu66Ala)
c.-13-4463T>G (n.-13-4463T>G)
6g.31816448A>GCA363410145HSPA1A,HSPA1Lc.692A>G (p.Glu231Gly)
c.197A>G (p.Glu66Gly)
c.-13-4463T>C (n.-13-4463T>C)
6g.31816448A>TCA363410147HSPA1A,HSPA1Lc.692A>T (p.Glu231Val)
c.197A>T (p.Glu66Val)
c.-13-4463T>A (n.-13-4463T>A)
6g.31816449G>ACA449805877HSPA1A,HSPA1Lc.693G>A (p.Glu231=)
c.198G>A (p.Glu66=)
c.-13-4464C>T (n.-13-4464C>T)
6g.31816449G>CCA363410151HSPA1A,HSPA1Lc.693G>C (p.Glu231Asp)
c.198G>C (p.Glu66Asp)
c.-13-4464C>G (n.-13-4464C>G)
6g.31816449G>TCA363410154HSPA1A,HSPA1Lc.693G>T (p.Glu231Asp)
c.198G>T (p.Glu66Asp)
c.-13-4464C>A (n.-13-4464C>A)
gnomAD v4
6g.31816450G>ACA363410161HSPA1A,HSPA1Lc.694G>A (p.Asp232Asn)
c.199G>A (p.Asp67Asn)
c.-13-4465C>T (n.-13-4465C>T)
6g.31816450G>CCA363410163HSPA1A,HSPA1Lc.694G>C (p.Asp232His)
c.199G>C (p.Asp67His)
c.-13-4465C>G (n.-13-4465C>G)
6g.31816450G>TCA363410160HSPA1A,HSPA1Lc.694G>T (p.Asp232Tyr)
c.199G>T (p.Asp67Tyr)
c.-13-4465C>A (n.-13-4465C>A)
6g.31816451A>CCA363410166HSPA1A,HSPA1Lc.695A>C (p.Asp232Ala)
c.200A>C (p.Asp67Ala)
c.-13-4466T>G (n.-13-4466T>G)
6g.31816451A>GCA363410170HSPA1A,HSPA1Lc.695A>G (p.Asp232Gly)
c.200A>G (p.Asp67Gly)
c.-13-4466T>C (n.-13-4466T>C)
6g.31816451A>TCA363410188HSPA1A,HSPA1Lc.695A>T (p.Asp232Val)
c.200A>T (p.Asp67Val)
c.-13-4466T>A (n.-13-4466T>A)
6g.31816452C>ACA363410217HSPA1A,HSPA1Lc.696C>A (p.Asp232Glu)
c.201C>A (p.Asp67Glu)
c.-13-4467G>T (n.-13-4467G>T)
6g.31816452C>GCA363410221HSPA1A,HSPA1Lc.696C>G (p.Asp232Glu)
c.201C>G (p.Asp67Glu)
c.-13-4467G>C (n.-13-4467G>C)
6g.31816452C>TCA449805883HSPA1A,HSPA1Lc.696C>T (p.Asp232=)
c.201C>T (p.Asp67=)
c.-13-4467G>A (n.-13-4467G>A)
6g.31816453T>ACA363410225HSPA1A,HSPA1Lc.697T>A (p.Phe233Ile)
c.202T>A (p.Phe68Ile)
c.-13-4468A>T (n.-13-4468A>T)
gnomAD v4
6g.31816453T>CCA363410226HSPA1A,HSPA1Lc.697T>C (p.Phe233Leu)
c.202T>C (p.Phe68Leu)
c.-13-4468A>G (n.-13-4468A>G)
6g.31816453T>GCA363410230HSPA1A,HSPA1Lc.697T>G (p.Phe233Val)
c.202T>G (p.Phe68Val)
c.-13-4468A>C (n.-13-4468A>C)
gnomAD v4
6g.31816454T>ACA363410239HSPA1A,HSPA1Lc.698T>A (p.Phe233Tyr)
c.203T>A (p.Phe68Tyr)
c.-13-4469A>T (n.-13-4469A>T)
6g.31816454T>CCA363410244HSPA1A,HSPA1Lc.698T>C (p.Phe233Ser)
c.203T>C (p.Phe68Ser)
c.-13-4469A>G (n.-13-4469A>G)
6g.31816454T>GCA363410245HSPA1A,HSPA1Lc.698T>G (p.Phe233Cys)
c.203T>G (p.Phe68Cys)
c.-13-4469A>C (n.-13-4469A>C)
gnomAD v4
6g.31816455T>ACA363410246HSPA1A,HSPA1Lc.699T>A (p.Phe233Leu)
c.204T>A (p.Phe68Leu)
c.-13-4470A>T (n.-13-4470A>T)
gnomAD v4
6g.31816455T>CCA449805889HSPA1A,HSPA1Lc.699T>C (p.Phe233=)
c.204T>C (p.Phe68=)
c.-13-4470A>G (n.-13-4470A>G)
6g.31816455T>GCA363410248HSPA1A,HSPA1Lc.699T>G (p.Phe233Leu)
c.204T>G (p.Phe68Leu)
c.-13-4470A>C (n.-13-4470A>C)
gnomAD v4
6g.31816456G>ACA363410256HSPA1A,HSPA1Lc.700G>A (p.Asp234Asn)
c.205G>A (p.Asp69Asn)
c.-13-4471C>T (n.-13-4471C>T)
6g.31816456G>CCA363410255HSPA1A,HSPA1Lc.700G>C (p.Asp234His)
c.205G>C (p.Asp69His)
c.-13-4471C>G (n.-13-4471C>G)
gnomAD v4
6g.31816456G>TCA363410254HSPA1A,HSPA1Lc.700G>T (p.Asp234Tyr)
c.205G>T (p.Asp69Tyr)
c.-13-4471C>A (n.-13-4471C>A)
6g.31816457A>CCA363410259HSPA1A,HSPA1Lc.701A>C (p.Asp234Ala)
c.206A>C (p.Asp69Ala)
c.-13-4472T>G (n.-13-4472T>G)
gnomAD v4
6g.31816457A>GCA363410262HSPA1A,HSPA1Lc.701A>G (p.Asp234Gly)
c.206A>G (p.Asp69Gly)
c.-13-4472T>C (n.-13-4472T>C)
6g.31816457A>TCA363410267HSPA1A,HSPA1Lc.701A>T (p.Asp234Val)
c.206A>T (p.Asp69Val)
c.-13-4472T>A (n.-13-4472T>A)
6g.31816458C>ACA363410271HSPA1A,HSPA1Lc.702C>A (p.Asp234Glu)
c.207C>A (p.Asp69Glu)
c.-13-4473G>T (n.-13-4473G>T)
6g.31816458C>GCA363410287HSPA1A,HSPA1Lc.702C>G (p.Asp234Glu)
c.207C>G (p.Asp69Glu)
c.-13-4473G>C (n.-13-4473G>C)
6g.31816458C>TCA449805895HSPA1A,HSPA1Lc.702C>T (p.Asp234=)
c.207C>T (p.Asp69=)
c.-13-4473G>A (n.-13-4473G>A)
6g.31816459A>CCA363410299HSPA1A,HSPA1Lc.703A>C (p.Asn235His)
c.208A>C (p.Asn70His)
c.-13-4474T>G (n.-13-4474T>G)
gnomAD v4
6g.31816459A>GCA363410310HSPA1A,HSPA1Lc.703A>G (p.Asn235Asp)
c.208A>G (p.Asn70Asp)
c.-13-4474T>C (n.-13-4474T>C)
6g.31816459A>TCA363410318HSPA1A,HSPA1Lc.703A>T (p.Asn235Tyr)
c.208A>T (p.Asn70Tyr)
c.-13-4474T>A (n.-13-4474T>A)
6g.31816460delCA2678043348HSPA1A,HSPA1Lc.704del (p.Asn235ThrfsTer4)
c.209del (p.Asn70ThrfsTer4)
c.-13-4474del (n.-13-4474del)
gnomAD v4
6g.31816460A>CCA363410330HSPA1A,HSPA1Lc.704A>C (p.Asn235Thr)
c.209A>C (p.Asn70Thr)
c.-13-4475T>G (n.-13-4475T>G)
gnomAD v4
6g.31816460A>GCA363410333HSPA1A,HSPA1Lc.704A>G (p.Asn235Ser)
c.209A>G (p.Asn70Ser)
c.-13-4475T>C (n.-13-4475T>C)
6g.31816460A>TCA363410340HSPA1A,HSPA1Lc.704A>T (p.Asn235Ile)
c.209A>T (p.Asn70Ile)
c.-13-4475T>A (n.-13-4475T>A)
6g.31816461C>ACA363410344HSPA1A,HSPA1Lc.705C>A (p.Asn235Lys)
c.210C>A (p.Asn70Lys)
c.-13-4476G>T (n.-13-4476G>T)
6g.31816461C>GCA363410345HSPA1A,HSPA1Lc.705C>G (p.Asn235Lys)
c.210C>G (p.Asn70Lys)
c.-13-4476G>C (n.-13-4476G>C)
6g.31816461C>TCA449805903HSPA1A,HSPA1Lc.705C>T (p.Asn235=)
c.210C>T (p.Asn70=)
c.-13-4476G>A (n.-13-4476G>A)
6g.31816462A>CCA449805904HSPA1A,HSPA1Lc.706A>C (p.Arg236=)
c.211A>C (p.Arg71=)
c.-13-4477T>G (n.-13-4477T>G)
6g.31816462A>GCA363410350HSPA1A,HSPA1Lc.706A>G (p.Arg236Gly)
c.211A>G (p.Arg71Gly)
c.-13-4477T>C (n.-13-4477T>C)
6g.31816462A>TCA363410347HSPA1A,HSPA1Lc.706A>T (p.Arg236Trp)
c.211A>T (p.Arg71Trp)
c.-13-4477T>A (n.-13-4477T>A)
6g.31816463G>ACA363410351HSPA1A,HSPA1Lc.707G>A (p.Arg236Lys)
c.212G>A (p.Arg71Lys)
c.-13-4478C>T (n.-13-4478C>T)
6g.31816463G>CCA363410354HSPA1A,HSPA1Lc.707G>C (p.Arg236Thr)
c.212G>C (p.Arg71Thr)
c.-13-4478C>G (n.-13-4478C>G)
6g.31816463G>TCA363410352HSPA1A,HSPA1Lc.707G>T (p.Arg236Met)
c.212G>T (p.Arg71Met)
c.-13-4478C>A (n.-13-4478C>A)
6g.31816464G>ACA449805912HSPA1A,HSPA1Lc.708G>A (p.Arg236=)
c.213G>A (p.Arg71=)
c.-13-4479C>T (n.-13-4479C>T)
gnomAD v4
6g.31816464G>CCA363410359HSPA1A,HSPA1Lc.708G>C (p.Arg236Ser)
c.213G>C (p.Arg71Ser)
c.-13-4479C>G (n.-13-4479C>G)
6g.31816464G>TCA363410363HSPA1A,HSPA1Lc.708G>T (p.Arg236Ser)
c.213G>T (p.Arg71Ser)
c.-13-4479C>A (n.-13-4479C>A)
6g.31816465C>ACA363410366HSPA1A,HSPA1Lc.709C>A (p.Leu237Met)
c.214C>A (p.Leu72Met)
c.-13-4480G>T (n.-13-4480G>T)
gnomAD v4
6g.31816465C=CA1619307525HSPA1A,HSPA1Lc.709C= (p.Leu237=)
c.214C= (p.Leu72=)
c.-13-4480G= (n.-13-4480G=)
6g.31816465C>GCA363410368HSPA1A,HSPA1Lc.709C>G (p.Leu237Val)
c.214C>G (p.Leu72Val)
c.-13-4480G>C (n.-13-4480G>C)
dbSNP gnomAD v2 gnomAD v4
6g.31816465C>TCA449805916HSPA1A,HSPA1Lc.709C>T (p.Leu237=)
c.214C>T (p.Leu72=)
c.-13-4480G>A (n.-13-4480G>A)
6g.31816466T>ACA363410372HSPA1A,HSPA1Lc.710T>A (p.Leu237Gln)
c.215T>A (p.Leu72Gln)
c.-13-4481A>T (n.-13-4481A>T)
6g.31816466T>CCA363410379HSPA1A,HSPA1Lc.710T>C (p.Leu237Pro)
c.215T>C (p.Leu72Pro)
c.-13-4481A>G (n.-13-4481A>G)
6g.31816466T>GCA363410383HSPA1A,HSPA1Lc.710T>G (p.Leu237Arg)
c.215T>G (p.Leu72Arg)
c.-13-4481A>C (n.-13-4481A>C)
gnomAD v4
6g.31816467G>ACA449805921HSPA1A,HSPA1Lc.711G>A (p.Leu237=)
c.216G>A (p.Leu72=)
c.-13-4482C>T (n.-13-4482C>T)
6g.31816467G>CCA449805922HSPA1A,HSPA1Lc.711G>C (p.Leu237=)
c.216G>C (p.Leu72=)
c.-13-4482C>G (n.-13-4482C>G)
6g.31816467G>TCA449805924HSPA1A,HSPA1Lc.711G>T (p.Leu237=)
c.216G>T (p.Leu72=)
c.-13-4482C>A (n.-13-4482C>A)
gnomAD v4
6g.31816468G>ACA363410395HSPA1A,HSPA1Lc.712G>A (p.Val238Met)
c.217G>A (p.Val73Met)
c.-13-4483C>T (n.-13-4483C>T)
6g.31816468G>CCA363410392HSPA1A,HSPA1Lc.712G>C (p.Val238Leu)
c.217G>C (p.Val73Leu)
c.-13-4483C>G (n.-13-4483C>G)
6g.31816468G>TCA363410388HSPA1A,HSPA1Lc.712G>T (p.Val238Leu)
c.217G>T (p.Val73Leu)
c.-13-4483C>A (n.-13-4483C>A)
6g.31816469T>ACA363410403HSPA1A,HSPA1Lc.713T>A (p.Val238Glu)
c.218T>A (p.Val73Glu)
c.-13-4484A>T (n.-13-4484A>T)
gnomAD v4
6g.31816469T>CCA363410406HSPA1A,HSPA1Lc.713T>C (p.Val238Ala)
c.218T>C (p.Val73Ala)
c.-13-4484A>G (n.-13-4484A>G)
6g.31816469T>GCA363410414HSPA1A,HSPA1Lc.713T>G (p.Val238Gly)
c.218T>G (p.Val73Gly)
c.-13-4484A>C (n.-13-4484A>C)
6g.31816470G>ACA449805931HSPA1A,HSPA1Lc.714G>A (p.Val238=)
c.219G>A (p.Val73=)
c.-13-4485C>T (n.-13-4485C>T)
6g.31816470G>CCA449805929HSPA1A,HSPA1Lc.714G>C (p.Val238=)
c.219G>C (p.Val73=)
c.-13-4485C>G (n.-13-4485C>G)
6g.31816470G>TCA449805930HSPA1A,HSPA1Lc.714G>T (p.Val238=)
c.219G>T (p.Val73=)
c.-13-4485C>A (n.-13-4485C>A)
6g.31816471A>CCA363410427HSPA1A,HSPA1Lc.715A>C (p.Asn239His)
c.220A>C (p.Asn74His)
c.-13-4486T>G (n.-13-4486T>G)
6g.31816471A>GCA363410430HSPA1A,HSPA1Lc.715A>G (p.Asn239Asp)
c.220A>G (p.Asn74Asp)
c.-13-4486T>C (n.-13-4486T>C)
6g.31816471A>TCA363410437HSPA1A,HSPA1Lc.715A>T (p.Asn239Tyr)
c.220A>T (p.Asn74Tyr)
c.-13-4486T>A (n.-13-4486T>A)
6g.31816472A>CCA363410438HSPA1A,HSPA1Lc.716A>C (p.Asn239Thr)
c.221A>C (p.Asn74Thr)
c.-13-4487T>G (n.-13-4487T>G)
6g.31816472A>GCA363410442HSPA1A,HSPA1Lc.716A>G (p.Asn239Ser)
c.221A>G (p.Asn74Ser)
c.-13-4487T>C (n.-13-4487T>C)
gnomAD v4
6g.31816472A>TCA363410439HSPA1A,HSPA1Lc.716A>T (p.Asn239Ile)
c.221A>T (p.Asn74Ile)
c.-13-4487T>A (n.-13-4487T>A)
6g.31816473C>ACA363410447HSPA1A,HSPA1Lc.717C>A (p.Asn239Lys)
c.222C>A (p.Asn74Lys)
c.-13-4488G>T (n.-13-4488G>T)
6g.31816473C>GCA363410457HSPA1A,HSPA1Lc.717C>G (p.Asn239Lys)
c.222C>G (p.Asn74Lys)
c.-13-4488G>C (n.-13-4488G>C)
6g.31816473C>TCA449805942HSPA1A,HSPA1Lc.717C>T (p.Asn239=)
c.222C>T (p.Asn74=)
c.-13-4488G>A (n.-13-4488G>A)
6g.31816474C>ACA363410467HSPA1A,HSPA1Lc.718C>A (p.His240Asn)
c.223C>A (p.His75Asn)
c.-13-4489G>T (n.-13-4489G>T)
6g.31816474C>GCA363410473HSPA1A,HSPA1Lc.718C>G (p.His240Asp)
c.223C>G (p.His75Asp)
c.-13-4489G>C (n.-13-4489G>C)
6g.31816474C>TCA363410488HSPA1A,HSPA1Lc.718C>T (p.His240Tyr)
c.223C>T (p.His75Tyr)
c.-13-4489G>A (n.-13-4489G>A)
gnomAD v4
6g.31816475A>CCA363410502HSPA1A,HSPA1Lc.719A>C (p.His240Pro)
c.224A>C (p.His75Pro)
c.-13-4490T>G (n.-13-4490T>G)
6g.31816475A>GCA363410504HSPA1A,HSPA1Lc.719A>G (p.His240Arg)
c.224A>G (p.His75Arg)
c.-13-4490T>C (n.-13-4490T>C)
gnomAD v4
6g.31816475A>TCA363410508HSPA1A,HSPA1Lc.719A>T (p.His240Leu)
c.224A>T (p.His75Leu)
c.-13-4490T>A (n.-13-4490T>A)
6g.31816476C>ACA363410526HSPA1A,HSPA1Lc.720C>A (p.His240Gln)
c.225C>A (p.His75Gln)
c.-13-4491G>T (n.-13-4491G>T)
6g.31816476C>GCA363410551HSPA1A,HSPA1Lc.720C>G (p.His240Gln)
c.225C>G (p.His75Gln)
c.-13-4491G>C (n.-13-4491G>C)
6g.31816476C>TCA449805951HSPA1A,HSPA1Lc.720C>T (p.His240=)
c.225C>T (p.His75=)
c.-13-4491G>A (n.-13-4491G>A)
6g.31816477T>ACA363410569HSPA1A,HSPA1Lc.721T>A (p.Phe241Ile)
c.226T>A (p.Phe76Ile)
c.-13-4492A>T (n.-13-4492A>T)
6g.31816477T>CCA363410564HSPA1A,HSPA1Lc.721T>C (p.Phe241Leu)
c.226T>C (p.Phe76Leu)
c.-13-4492A>G (n.-13-4492A>G)
6g.31816477T>GCA363410562HSPA1A,HSPA1Lc.721T>G (p.Phe241Val)
c.226T>G (p.Phe76Val)
c.-13-4492A>C (n.-13-4492A>C)
gnomAD v4
6g.31816478T>ACA363410575HSPA1A,HSPA1Lc.722T>A (p.Phe241Tyr)
c.227T>A (p.Phe76Tyr)
c.-13-4493A>T (n.-13-4493A>T)
6g.31816478T>CCA363410577HSPA1A,HSPA1Lc.722T>C (p.Phe241Ser)
c.227T>C (p.Phe76Ser)
c.-13-4493A>G (n.-13-4493A>G)
6g.31816478T>GCA363410580HSPA1A,HSPA1Lc.722T>G (p.Phe241Cys)
c.227T>G (p.Phe76Cys)
c.-13-4493A>C (n.-13-4493A>C)
gnomAD v4
6g.31816479C>ACA363410586HSPA1A,HSPA1Lc.723C>A (p.Phe241Leu)
c.228C>A (p.Phe76Leu)
c.-13-4494G>T (n.-13-4494G>T)
gnomAD v4
6g.31816479C>GCA363410591HSPA1A,HSPA1Lc.723C>G (p.Phe241Leu)
c.228C>G (p.Phe76Leu)
c.-13-4494G>C (n.-13-4494G>C)
6g.31816479C>TCA449805957HSPA1A,HSPA1Lc.723C>T (p.Phe241=)
c.228C>T (p.Phe76=)
c.-13-4494G>A (n.-13-4494G>A)
6g.31816480G>ACA363410598HSPA1A,HSPA1Lc.724G>A (p.Val242Met)
c.229G>A (p.Val77Met)
c.-13-4495C>T (n.-13-4495C>T)
6g.31816480G>CCA363410596HSPA1A,HSPA1Lc.724G>C (p.Val242Leu)
c.229G>C (p.Val77Leu)
c.-13-4495C>G (n.-13-4495C>G)
6g.31816480G>TCA363410594HSPA1A,HSPA1Lc.724G>T (p.Val242Leu)
c.229G>T (p.Val77Leu)
c.-13-4495C>A (n.-13-4495C>A)
6g.31816481T>ACA363410603HSPA1A,HSPA1Lc.725T>A (p.Val242Glu)
c.230T>A (p.Val77Glu)
c.-13-4496A>T (n.-13-4496A>T)
gnomAD v4
6g.31816481T>CCA363410604HSPA1A,HSPA1Lc.725T>C (p.Val242Ala)
c.230T>C (p.Val77Ala)
c.-13-4496A>G (n.-13-4496A>G)
6g.31816481T>GCA363410605HSPA1A,HSPA1Lc.725T>G (p.Val242Gly)
c.230T>G (p.Val77Gly)
c.-13-4496A>C (n.-13-4496A>C)
dbSNP gnomAD v4
6g.31816482G>ACA449805961HSPA1A,HSPA1Lc.726G>A (p.Val242=)
c.231G>A (p.Val77=)
c.-13-4497C>T (n.-13-4497C>T)
6g.31816482G>CCA449805963HSPA1A,HSPA1Lc.726G>C (p.Val242=)
c.231G>C (p.Val77=)
c.-13-4497C>G (n.-13-4497C>G)
6g.31816482G>TCA449805966HSPA1A,HSPA1Lc.726G>T (p.Val242=)
c.231G>T (p.Val77=)
c.-13-4497C>A (n.-13-4497C>A)
6g.31816483G>ACA363410608HSPA1A,HSPA1Lc.727G>A (p.Glu243Lys)
c.232G>A (p.Glu78Lys)
c.-13-4498C>T (n.-13-4498C>T)
6g.31816483G>CCA363410610HSPA1A,HSPA1Lc.727G>C (p.Glu243Gln)
c.232G>C (p.Glu78Gln)
c.-13-4498C>G (n.-13-4498C>G)
6g.31816483G>TCA363410625HSPA1A,HSPA1Lc.727G>T (p.Glu243Ter)
c.232G>T (p.Glu78Ter)
c.-13-4498C>A (n.-13-4498C>A)
6g.31816484A>CCA363410631HSPA1A,HSPA1Lc.728A>C (p.Glu243Ala)
c.233A>C (p.Glu78Ala)
c.-13-4499T>G (n.-13-4499T>G)
6g.31816484A>GCA363410647HSPA1A,HSPA1Lc.728A>G (p.Glu243Gly)
c.233A>G (p.Glu78Gly)
c.-13-4499T>C (n.-13-4499T>C)
6g.31816484A>TCA363410639HSPA1A,HSPA1Lc.728A>T (p.Glu243Val)
c.233A>T (p.Glu78Val)
c.-13-4499T>A (n.-13-4499T>A)
6g.31816485G>ACA449805977HSPA1A,HSPA1Lc.729G>A (p.Glu243=)
c.234G>A (p.Glu78=)
c.-13-4500C>T (n.-13-4500C>T)
6g.31816485G>CCA363410652HSPA1A,HSPA1Lc.729G>C (p.Glu243Asp)
c.234G>C (p.Glu78Asp)
c.-13-4500C>G (n.-13-4500C>G)
6g.31816485G>TCA363410656HSPA1A,HSPA1Lc.729G>T (p.Glu243Asp)
c.234G>T (p.Glu78Asp)
c.-13-4500C>A (n.-13-4500C>A)
6g.31816486G>ACA363410678HSPA1A,HSPA1Lc.730G>A (p.Glu244Lys)
c.235G>A (p.Glu79Lys)
c.-13-4501C>T (n.-13-4501C>T)
6g.31816486G>CCA363410681HSPA1A,HSPA1Lc.730G>C (p.Glu244Gln)
c.235G>C (p.Glu79Gln)
c.-13-4501C>G (n.-13-4501C>G)
6g.31816486G>TCA363410718HSPA1A,HSPA1Lc.730G>T (p.Glu244Ter)
c.235G>T (p.Glu79Ter)
c.-13-4501C>A (n.-13-4501C>A)
6g.31816487A>CCA363410725HSPA1A,HSPA1Lc.731A>C (p.Glu244Ala)
c.236A>C (p.Glu79Ala)
c.-13-4502T>G (n.-13-4502T>G)
6g.31816487A>GCA363410726HSPA1A,HSPA1Lc.731A>G (p.Glu244Gly)
c.236A>G (p.Glu79Gly)
c.-13-4502T>C (n.-13-4502T>C)
6g.31816487A>TCA363410727HSPA1A,HSPA1Lc.731A>T (p.Glu244Val)
c.236A>T (p.Glu79Val)
c.-13-4502T>A (n.-13-4502T>A)
6g.31816488G>ACA449805983HSPA1A,HSPA1Lc.732G>A (p.Glu244=)
c.237G>A (p.Glu79=)
c.-13-4503C>T (n.-13-4503C>T)
6g.31816488G>CCA363410735HSPA1A,HSPA1Lc.732G>C (p.Glu244Asp)
c.237G>C (p.Glu79Asp)
c.-13-4503C>G (n.-13-4503C>G)
6g.31816488G>TCA363410742HSPA1A,HSPA1Lc.732G>T (p.Glu244Asp)
c.237G>T (p.Glu79Asp)
c.-13-4503C>A (n.-13-4503C>A)
6g.31816489T>ACA363410745HSPA1A,HSPA1Lc.733T>A (p.Phe245Ile)
c.238T>A (p.Phe80Ile)
c.-13-4504A>T (n.-13-4504A>T)
6g.31816489T>CCA363410744HSPA1A,HSPA1Lc.733T>C (p.Phe245Leu)
c.238T>C (p.Phe80Leu)
c.-13-4504A>G (n.-13-4504A>G)
6g.31816489T>GCA363410743HSPA1A,HSPA1Lc.733T>G (p.Phe245Val)
c.238T>G (p.Phe80Val)
c.-13-4504A>C (n.-13-4504A>C)
dbSNP gnomAD v2 gnomAD v4
6g.31816489T=CA1619307526HSPA1A,HSPA1Lc.733T= (p.Phe245=)
c.238T= (p.Phe80=)
c.-13-4504A= (n.-13-4504A=)
6g.31816490T>ACA363410748HSPA1A,HSPA1Lc.734T>A (p.Phe245Tyr)
c.239T>A (p.Phe80Tyr)
c.-13-4505A>T (n.-13-4505A>T)
6g.31816490T>CCA363410764HSPA1A,HSPA1Lc.734T>C (p.Phe245Ser)
c.239T>C (p.Phe80Ser)
c.-13-4505A>G (n.-13-4505A>G)
6g.31816490T>GCA363410752HSPA1A,HSPA1Lc.734T>G (p.Phe245Cys)
c.239T>G (p.Phe80Cys)
c.-13-4505A>C (n.-13-4505A>C)
gnomAD v4
6g.31816491C>ACA363410778HSPA1A,HSPA1Lc.735C>A (p.Phe245Leu)
c.240C>A (p.Phe80Leu)
c.-13-4506G>T (n.-13-4506G>T)
6g.31816491C=CA1619307527HSPA1A,HSPA1Lc.735C= (p.Phe245=)
c.240C= (p.Phe80=)
c.-13-4506G= (n.-13-4506G=)
6g.31816491C>GCA363410781HSPA1A,HSPA1Lc.735C>G (p.Phe245Leu)
c.240C>G (p.Phe80Leu)
c.-13-4506G>C (n.-13-4506G>C)
dbSNP gnomAD v2 gnomAD v4
6g.31816491C>TCA449805991HSPA1A,HSPA1Lc.735C>T (p.Phe245=)
c.240C>T (p.Phe80=)
c.-13-4506G>A (n.-13-4506G>A)
6g.31816492A>CCA363410787HSPA1A,HSPA1Lc.736A>C (p.Lys246Gln)
c.241A>C (p.Lys81Gln)
c.-13-4507T>G (n.-13-4507T>G)
6g.31816492A>GCA363410792HSPA1A,HSPA1Lc.736A>G (p.Lys246Glu)
c.241A>G (p.Lys81Glu)
c.-13-4507T>C (n.-13-4507T>C)
6g.31816492A>TCA363410813HSPA1A,HSPA1Lc.736A>T (p.Lys246Ter)
c.241A>T (p.Lys81Ter)
c.-13-4507T>A (n.-13-4507T>A)
6g.31816493A>CCA363410819HSPA1A,HSPA1Lc.737A>C (p.Lys246Thr)
c.242A>C (p.Lys81Thr)
c.-13-4508T>G (n.-13-4508T>G)
6g.31816493A>GCA363410820HSPA1A,HSPA1Lc.737A>G (p.Lys246Arg)
c.242A>G (p.Lys81Arg)
c.-13-4508T>C (n.-13-4508T>C)
6g.31816493A>TCA363410821HSPA1A,HSPA1Lc.737A>T (p.Lys246Met)
c.242A>T (p.Lys81Met)
c.-13-4508T>A (n.-13-4508T>A)
6g.31816494G>ACA449805998HSPA1A,HSPA1Lc.738G>A (p.Lys246=)
c.243G>A (p.Lys81=)
c.-13-4509C>T (n.-13-4509C>T)
6g.31816494G>CCA363410824HSPA1A,HSPA1Lc.738G>C (p.Lys246Asn)
c.243G>C (p.Lys81Asn)
c.-13-4509C>G (n.-13-4509C>G)
6g.31816494G>TCA363410835HSPA1A,HSPA1Lc.738G>T (p.Lys246Asn)
c.243G>T (p.Lys81Asn)
c.-13-4509C>A (n.-13-4509C>A)
6g.31816495A>CCA449806001HSPA1A,HSPA1Lc.739A>C (p.Arg247=)
c.244A>C (p.Arg82=)
c.-13-4510T>G (n.-13-4510T>G)
6g.31816495A>GCA363410846HSPA1A,HSPA1Lc.739A>G (p.Arg247Gly)
c.244A>G (p.Arg82Gly)
c.-13-4510T>C (n.-13-4510T>C)
6g.31816495A>TCA363410852HSPA1A,HSPA1Lc.739A>T (p.Arg247Ter)
c.244A>T (p.Arg82Ter)
c.-13-4510T>A (n.-13-4510T>A)
6g.31816496G>ACA363410853HSPA1A,HSPA1Lc.740G>A (p.Arg247Lys)
c.245G>A (p.Arg82Lys)
c.-13-4511C>T (n.-13-4511C>T)
gnomAD v4
6g.31816496G>CCA363410857HSPA1A,HSPA1Lc.740G>C (p.Arg247Thr)
c.245G>C (p.Arg82Thr)
c.-13-4511C>G (n.-13-4511C>G)
6g.31816496G>TCA363410854HSPA1A,HSPA1Lc.740G>T (p.Arg247Ile)
c.245G>T (p.Arg82Ile)
c.-13-4511C>A (n.-13-4511C>A)
6g.31816497A>CCA363410862HSPA1A,HSPA1Lc.741A>C (p.Arg247Ser)
c.246A>C (p.Arg82Ser)
c.-13-4512T>G (n.-13-4512T>G)
6g.31816497A>GCA449806009HSPA1A,HSPA1Lc.741A>G (p.Arg247=)
c.246A>G (p.Arg82=)
c.-13-4512T>C (n.-13-4512T>C)
gnomAD v4
6g.31816497A>TCA363410868HSPA1A,HSPA1Lc.741A>T (p.Arg247Ser)
c.246A>T (p.Arg82Ser)
c.-13-4512T>A (n.-13-4512T>A)
6g.31816498A>CCA363410882HSPA1A,HSPA1Lc.742A>C (p.Lys248Gln)
c.247A>C (p.Lys83Gln)
c.-13-4513T>G (n.-13-4513T>G)
gnomAD v4
6g.31816498A>GCA363410885HSPA1A,HSPA1Lc.742A>G (p.Lys248Glu)
c.247A>G (p.Lys83Glu)
c.-13-4513T>C (n.-13-4513T>C)
6g.31816498A>TCA363410887HSPA1A,HSPA1Lc.742A>T (p.Lys248Ter)
c.247A>T (p.Lys83Ter)
c.-13-4513T>A (n.-13-4513T>A)
6g.31816499A>CCA363410895HSPA1A,HSPA1Lc.743A>C (p.Lys248Thr)
c.248A>C (p.Lys83Thr)
c.-13-4514T>G (n.-13-4514T>G)
gnomAD v4
6g.31816499A>GCA363410900HSPA1A,HSPA1Lc.743A>G (p.Lys248Arg)
c.248A>G (p.Lys83Arg)
c.-13-4514T>C (n.-13-4514T>C)
gnomAD v4
6g.31816499A>TCA363410922HSPA1A,HSPA1Lc.743A>T (p.Lys248Ile)
c.248A>T (p.Lys83Ile)
c.-13-4514T>A (n.-13-4514T>A)
6g.31816501_31816505delCA2678043528HSPA1A,HSPA1Lc.745_749del (p.His249GlufsTer?)
c.250_254del (p.His84GlufsTer?)
c.-14+4510_-13-4514del (n.-14+4510_-13-4514del)
gnomAD v4
6g.31816500A=CA1619307528HSPA1A,HSPA1Lc.744A= (p.Lys248=)
c.249A= (p.Lys83=)
c.-14+4513T= (n.-14+4513T=)
6g.31816500A>CCA363410927HSPA1A,HSPA1Lc.744A>C (p.Lys248Asn)
c.249A>C (p.Lys83Asn)
c.-14+4513T>G (n.-14+4513T>G)
gnomAD v4
6g.31816500A>GCA449806022HSPA1A,HSPA1Lc.744A>G (p.Lys248=)
c.249A>G (p.Lys83=)
c.-14+4513T>C (n.-14+4513T>C)
dbSNP gnomAD v2 gnomAD v4
6g.31816500A>TCA363410931HSPA1A,HSPA1Lc.744A>T (p.Lys248Asn)
c.249A>T (p.Lys83Asn)
c.-14+4513T>A (n.-14+4513T>A)
6g.31816501C>ACA363410939HSPA1A,HSPA1Lc.745C>A (p.His249Asn)
c.250C>A (p.His84Asn)
c.-14+4512G>T (n.-14+4512G>T)
6g.31816501C>GCA363410942HSPA1A,HSPA1Lc.745C>G (p.His249Asp)
c.250C>G (p.His84Asp)
c.-14+4512G>C (n.-14+4512G>C)
6g.31816501C>TCA363410936HSPA1A,HSPA1Lc.745C>T (p.His249Tyr)
c.250C>T (p.His84Tyr)
c.-14+4512G>A (n.-14+4512G>A)
6g.31816502A>CCA363410943HSPA1A,HSPA1Lc.746A>C (p.His249Pro)
c.251A>C (p.His84Pro)
c.-14+4511T>G (n.-14+4511T>G)
gnomAD v4
6g.31816502A>GCA363410947HSPA1A,HSPA1Lc.746A>G (p.His249Arg)
c.251A>G (p.His84Arg)
c.-14+4511T>C (n.-14+4511T>C)
6g.31816502A>TCA363410951HSPA1A,HSPA1Lc.746A>T (p.His249Leu)
c.251A>T (p.His84Leu)
c.-14+4511T>A (n.-14+4511T>A)
6g.31816503C>ACA363410963HSPA1A,HSPA1Lc.747C>A (p.His249Gln)
c.252C>A (p.His84Gln)
c.-14+4510G>T (n.-14+4510G>T)
6g.31816503C>GCA363410967HSPA1A,HSPA1Lc.747C>G (p.His249Gln)
c.252C>G (p.His84Gln)
c.-14+4510G>C (n.-14+4510G>C)
6g.31816503C>TCA449806029HSPA1A,HSPA1Lc.747C>T (p.His249=)
c.252C>T (p.His84=)
c.-14+4510G>A (n.-14+4510G>A)
6g.31816504A>CCA363410972HSPA1A,HSPA1Lc.748A>C (p.Lys250Gln)
c.253A>C (p.Lys85Gln)
c.-14+4509T>G (n.-14+4509T>G)
gnomAD v4
6g.31816504A>GCA363410976HSPA1A,HSPA1Lc.748A>G (p.Lys250Glu)
c.253A>G (p.Lys85Glu)
c.-14+4509T>C (n.-14+4509T>C)
6g.31816504A>TCA363410977HSPA1A,HSPA1Lc.748A>T (p.Lys250Ter)
c.253A>T (p.Lys85Ter)
c.-14+4509T>A (n.-14+4509T>A)
6g.31816505A>CCA363410980HSPA1A,HSPA1Lc.749A>C (p.Lys250Thr)
c.254A>C (p.Lys85Thr)
c.-14+4508T>G (n.-14+4508T>G)
gnomAD v4
6g.31816505A>GCA363410996HSPA1A,HSPA1Lc.749A>G (p.Lys250Arg)
c.254A>G (p.Lys85Arg)
c.-14+4508T>C (n.-14+4508T>C)
6g.31816505A>TCA363411002HSPA1A,HSPA1Lc.749A>T (p.Lys250Met)
c.254A>T (p.Lys85Met)
c.-14+4508T>A (n.-14+4508T>A)
6g.31816506G>ACA449806035HSPA1A,HSPA1Lc.750G>A (p.Lys250=)
c.255G>A (p.Lys85=)
c.-14+4507C>T (n.-14+4507C>T)
gnomAD v4
6g.31816506G>CCA363411003HSPA1A,HSPA1Lc.750G>C (p.Lys250Asn)
c.255G>C (p.Lys85Asn)
c.-14+4507C>G (n.-14+4507C>G)
6g.31816506G>TCA363411004HSPA1A,HSPA1Lc.750G>T (p.Lys250Asn)
c.255G>T (p.Lys85Asn)
c.-14+4507C>A (n.-14+4507C>A)

Number of alleles fetched