Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.42711309G>ACA359696000GHRc.721G>A (p.Gly241Ser)
c.655G>A (p.Gly219Ser)
c.*333G>A (n.*333G>A)
c.742G>A (p.Gly248Ser)
c.676G>A (p.Gly226Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.42711309G>CCA359696001GHRc.721G>C (p.Gly241Arg)
c.655G>C (p.Gly219Arg)
c.*333G>C (n.*333G>C)
c.742G>C (p.Gly248Arg)
c.676G>C (p.Gly226Arg)
 dbSNP
5g.42711309G=CA1542304887GHRc.721G= (p.Gly241=)
c.655G= (p.Gly219=)
c.*333G= (n.*333G=)
c.742G= (p.Gly248=)
c.676G= (p.Gly226=)
5g.42711309G>TCA359696002GHRc.721G>T (p.Gly241Cys)
c.655G>T (p.Gly219Cys)
c.*333G>T (n.*333G>T)
c.742G>T (p.Gly248Cys)
c.676G>T (p.Gly226Cys)
5g.42711310G>ACA359696003GHRc.722G>A (p.Gly241Asp)
c.656G>A (p.Gly219Asp)
c.*334G>A (n.*334G>A)
c.743G>A (p.Gly248Asp)
c.677G>A (p.Gly226Asp)
5g.42711310G>CCA359696004GHRc.722G>C (p.Gly241Ala)
c.656G>C (p.Gly219Ala)
c.*334G>C (n.*334G>C)
c.743G>C (p.Gly248Ala)
c.677G>C (p.Gly226Ala)
5g.42711310G>TCA359696005GHRc.722G>T (p.Gly241Val)
c.656G>T (p.Gly219Val)
c.*334G>T (n.*334G>T)
c.743G>T (p.Gly248Val)
c.677G>T (p.Gly226Val)
 gnomAD v4
5g.42711311C>ACA443847931GHRc.723C>A (p.Gly241=)
c.657C>A (p.Gly219=)
c.*335C>A (n.*335C>A)
c.744C>A (p.Gly248=)
c.678C>A (p.Gly226=)
 ClinVar dbSNP gnomAD v4
5g.42711311C=CA1542304892GHRc.723C= (p.Gly241=)
c.657C= (p.Gly219=)
c.*335C= (n.*335C=)
c.744C= (p.Gly248=)
c.678C= (p.Gly226=)
5g.42711311C>GCA443847933GHRc.723C>G (p.Gly241=)
c.657C>G (p.Gly219=)
c.*335C>G (n.*335C>G)
c.744C>G (p.Gly248=)
c.678C>G (p.Gly226=)
5g.42711311C>TCA443847935GHRc.723C>T (p.Gly241=)
c.657C>T (p.Gly219=)
c.*335C>T (n.*335C>T)
c.744C>T (p.Gly248=)
c.678C>T (p.Gly226=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.42711312G>ACA3254478GHRc.724G>A (p.Glu242Lys)
c.658G>A (p.Glu220Lys)
c.*336G>A (n.*336G>A)
c.745G>A (p.Glu249Lys)
c.679G>A (p.Glu227Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42711312G>CCA359696006GHRc.724G>C (p.Glu242Gln)
c.658G>C (p.Glu220Gln)
c.*336G>C (n.*336G>C)
c.745G>C (p.Glu249Gln)
c.679G>C (p.Glu227Gln)
5g.42711312G=CA1542304897GHRc.724G= (p.Glu242=)
c.658G= (p.Glu220=)
c.*336G= (n.*336G=)
c.745G= (p.Glu249=)
c.679G= (p.Glu227=)
5g.42711312G>TCA119805GHRc.724G>T (p.Glu242Ter)
c.658G>T (p.Glu220Ter)
c.*336G>T (n.*336G>T)
c.745G>T (p.Glu249Ter)
c.679G>T (p.Glu227Ter)
 ClinVar dbSNP
5g.42711313A>CCA359696007GHRc.725A>C (p.Glu242Ala)
c.659A>C (p.Glu220Ala)
c.*337A>C (n.*337A>C)
c.746A>C (p.Glu249Ala)
c.680A>C (p.Glu227Ala)
5g.42711313A>GCA359696009GHRc.725A>G (p.Glu242Gly)
c.659A>G (p.Glu220Gly)
c.*337A>G (n.*337A>G)
c.746A>G (p.Glu249Gly)
c.680A>G (p.Glu227Gly)
5g.42711313A>TCA359696008GHRc.725A>T (p.Glu242Val)
c.659A>T (p.Glu220Val)
c.*337A>T (n.*337A>T)
c.746A>T (p.Glu249Val)
c.680A>T (p.Glu227Val)
5g.42711314G>ACA443847944GHRc.726G>A (p.Glu242=)
c.660G>A (p.Glu220=)
c.*338G>A (n.*338G>A)
c.747G>A (p.Glu249=)
c.681G>A (p.Glu227=)
 ClinVar
5g.42711314G>CCA119800GHRc.726G>C (p.Glu242Asp)
c.660G>C (p.Glu220Asp)
c.*338G>C (n.*338G>C)
c.747G>C (p.Glu249Asp)
c.681G>C (p.Glu227Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42711314G=CA1542304912GHRc.726G= (p.Glu242=)
c.660G= (p.Glu220=)
c.*338G= (n.*338G=)
c.747G= (p.Glu249=)
c.681G= (p.Glu227=)
5g.42711314G>TCA359696010GHRc.726G>T (p.Glu242Asp)
c.660G>T (p.Glu220Asp)
c.*338G>T (n.*338G>T)
c.747G>T (p.Glu249Asp)
c.681G>T (p.Glu227Asp)
5g.42711315T>ACA359696011GHRc.727T>A (p.Phe243Ile)
c.661T>A (p.Phe221Ile)
c.*339T>A (n.*339T>A)
c.748T>A (p.Phe250Ile)
c.682T>A (p.Phe228Ile)
5g.42711315T>CCA359696012GHRc.727T>C (p.Phe243Leu)
c.661T>C (p.Phe221Leu)
c.*339T>C (n.*339T>C)
c.748T>C (p.Phe250Leu)
c.682T>C (p.Phe228Leu)
5g.42711315T>GCA359696013GHRc.727T>G (p.Phe243Val)
c.661T>G (p.Phe221Val)
c.*339T>G (n.*339T>G)
c.748T>G (p.Phe250Val)
c.682T>G (p.Phe228Val)
5g.42711316T>ACA359696014GHRc.728T>A (p.Phe243Tyr)
c.662T>A (p.Phe221Tyr)
c.*340T>A (n.*340T>A)
c.749T>A (p.Phe250Tyr)
c.683T>A (p.Phe228Tyr)
5g.42711316T>CCA359696015GHRc.728T>C (p.Phe243Ser)
c.662T>C (p.Phe221Ser)
c.*340T>C (n.*340T>C)
c.749T>C (p.Phe250Ser)
c.683T>C (p.Phe228Ser)
5g.42711316T>GCA359696016GHRc.728T>G (p.Phe243Cys)
c.662T>G (p.Phe221Cys)
c.*340T>G (n.*340T>G)
c.749T>G (p.Phe250Cys)
c.683T>G (p.Phe228Cys)
5g.42711317C>ACA359696017GHRc.729C>A (p.Phe243Leu)
c.663C>A (p.Phe221Leu)
c.*341C>A (n.*341C>A)
c.750C>A (p.Phe250Leu)
c.684C>A (p.Phe228Leu)
5g.42711317C>GCA359696018GHRc.729C>G (p.Phe243Leu)
c.663C>G (p.Phe221Leu)
c.*341C>G (n.*341C>G)
c.750C>G (p.Phe250Leu)
c.684C>G (p.Phe228Leu)
5g.42711317C>TCA443847953GHRc.729C>T (p.Phe243=)
c.663C>T (p.Phe221=)
c.*341C>T (n.*341C>T)
c.750C>T (p.Phe250=)
c.684C>T (p.Phe228=)
5g.42711318A>CCA359696020GHRc.730A>C (p.Ser244Arg)
c.664A>C (p.Ser222Arg)
c.*342A>C (n.*342A>C)
c.751A>C (p.Ser251Arg)
c.685A>C (p.Ser229Arg)
5g.42711318A>GCA359696021GHRc.730A>G (p.Ser244Gly)
c.664A>G (p.Ser222Gly)
c.*342A>G (n.*342A>G)
c.751A>G (p.Ser251Gly)
c.685A>G (p.Ser229Gly)
5g.42711318A>TCA359696019GHRc.730A>T (p.Ser244Cys)
c.664A>T (p.Ser222Cys)
c.*342A>T (n.*342A>T)
c.751A>T (p.Ser251Cys)
c.685A>T (p.Ser229Cys)
5g.42711319G>ACA359696022GHRc.731G>A (p.Ser244Asn)
c.665G>A (p.Ser222Asn)
c.*343G>A (n.*343G>A)
c.752G>A (p.Ser251Asn)
c.686G>A (p.Ser229Asn)
 gnomAD v4
5g.42711319G>CCA359696023GHRc.731G>C (p.Ser244Thr)
c.665G>C (p.Ser222Thr)
c.*343G>C (n.*343G>C)
c.752G>C (p.Ser251Thr)
c.686G>C (p.Ser229Thr)
5g.42711319G=CA1542304915GHRc.731G= (p.Ser244=)
c.665G= (p.Ser222=)
c.*343G= (n.*343G=)
c.752G= (p.Ser251=)
c.686G= (p.Ser229=)
5g.42711319G>TCA359696024GHRc.731G>T (p.Ser244Ile)
c.665G>T (p.Ser222Ile)
c.*343G>T (n.*343G>T)
c.752G>T (p.Ser251Ile)
c.686G>T (p.Ser229Ile)
 dbSNP
5g.42711320T>ACA359696025GHRc.732T>A (p.Ser244Arg)
c.666T>A (p.Ser222Arg)
c.*344T>A (n.*344T>A)
c.753T>A (p.Ser251Arg)
c.687T>A (p.Ser229Arg)
5g.42711320T>CCA443847964GHRc.732T>C (p.Ser244=)
c.666T>C (p.Ser222=)
c.*344T>C (n.*344T>C)
c.753T>C (p.Ser251=)
c.687T>C (p.Ser229=)
5g.42711320T>GCA359696026GHRc.732T>G (p.Ser244Arg)
c.666T>G (p.Ser222Arg)
c.*344T>G (n.*344T>G)
c.753T>G (p.Ser251Arg)
c.687T>G (p.Ser229Arg)
5g.42711321G>ACA3254479GHRc.733G>A (p.Glu245Lys)
c.667G>A (p.Glu223Lys)
c.*345G>A (n.*345G>A)
c.754G>A (p.Glu252Lys)
c.688G>A (p.Glu230Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42711321G>CCA359696027GHRc.733G>C (p.Glu245Gln)
c.667G>C (p.Glu223Gln)
c.*345G>C (n.*345G>C)
c.754G>C (p.Glu252Gln)
c.688G>C (p.Glu230Gln)
5g.42711321G=CA1542304921GHRc.733G= (p.Glu245=)
c.667G= (p.Glu223=)
c.*345G= (n.*345G=)
c.754G= (p.Glu252=)
c.688G= (p.Glu230=)
5g.42711321G>TCA359696028GHRc.733G>T (p.Glu245Ter)
c.667G>T (p.Glu223Ter)
c.*345G>T (n.*345G>T)
c.754G>T (p.Glu252Ter)
c.688G>T (p.Glu230Ter)
5g.42711322A>CCA359696029GHRc.734A>C (p.Glu245Ala)
c.668A>C (p.Glu223Ala)
c.*346A>C (n.*346A>C)
c.755A>C (p.Glu252Ala)
c.689A>C (p.Glu230Ala)
5g.42711322A>GCA359696030GHRc.734A>G (p.Glu245Gly)
c.668A>G (p.Glu223Gly)
c.*346A>G (n.*346A>G)
c.755A>G (p.Glu252Gly)
c.689A>G (p.Glu230Gly)
5g.42711322A>TCA359696031GHRc.734A>T (p.Glu245Val)
c.668A>T (p.Glu223Val)
c.*346A>T (n.*346A>T)
c.755A>T (p.Glu252Val)
c.689A>T (p.Glu230Val)
5g.42711323G>ACA443847973GHRc.735G>A (p.Glu245=)
c.669G>A (p.Glu223=)
c.*347G>A (n.*347G>A)
c.756G>A (p.Glu252=)
c.690G>A (p.Glu230=)
5g.42711323G>CCA359696032GHRc.735G>C (p.Glu245Asp)
c.669G>C (p.Glu223Asp)
c.*347G>C (n.*347G>C)
c.756G>C (p.Glu252Asp)
c.690G>C (p.Glu230Asp)
 dbSNP gnomAD v2 gnomAD v4
5g.42711323G=CA1542304925GHRc.735G= (p.Glu245=)
c.669G= (p.Glu223=)
c.*347G= (n.*347G=)
c.756G= (p.Glu252=)
c.690G= (p.Glu230=)
5g.42711323G>TCA359696033GHRc.735G>T (p.Glu245Asp)
c.669G>T (p.Glu223Asp)
c.*347G>T (n.*347G>T)
c.756G>T (p.Glu252Asp)
c.690G>T (p.Glu230Asp)
5g.42711324G>ACA359696036GHRc.736G>A (p.Val246Met)
c.670G>A (p.Val224Met)
c.*348G>A (n.*348G>A)
c.757G>A (p.Val253Met)
c.691G>A (p.Val231Met)
 ClinVar dbSNP gnomAD v4
5g.42711324G>CCA359696035GHRc.736G>C (p.Val246Leu)
c.670G>C (p.Val224Leu)
c.*348G>C (n.*348G>C)
c.757G>C (p.Val253Leu)
c.691G>C (p.Val231Leu)
5g.42711324G=CA1542304929GHRc.736G= (p.Val246=)
c.670G= (p.Val224=)
c.*348G= (n.*348G=)
c.757G= (p.Val253=)
c.691G= (p.Val231=)
5g.42711324G>TCA359696034GHRc.736G>T (p.Val246Leu)
c.670G>T (p.Val224Leu)
c.*348G>T (n.*348G>T)
c.757G>T (p.Val253Leu)
c.691G>T (p.Val231Leu)
5g.42711325T>ACA359696037GHRc.737T>A (p.Val246Glu)
c.671T>A (p.Val224Glu)
c.*349T>A (n.*349T>A)
c.758T>A (p.Val253Glu)
c.692T>A (p.Val231Glu)
5g.42711325T>CCA359696038GHRc.737T>C (p.Val246Ala)
c.671T>C (p.Val224Ala)
c.*349T>C (n.*349T>C)
c.758T>C (p.Val253Ala)
c.692T>C (p.Val231Ala)
5g.42711325T>GCA359696039GHRc.737T>G (p.Val246Gly)
c.671T>G (p.Val224Gly)
c.*349T>G (n.*349T>G)
c.758T>G (p.Val253Gly)
c.692T>G (p.Val231Gly)
 dbSNP gnomAD v3 gnomAD v4
5g.42711325T=CA1542304932GHRc.737T= (p.Val246=)
c.671T= (p.Val224=)
c.*349T= (n.*349T=)
c.758T= (p.Val253=)
c.692T= (p.Val231=)
5g.42711326G>ACA443847981GHRc.738G>A (p.Val246=)
c.672G>A (p.Val224=)
c.*350G>A (n.*350G>A)
c.759G>A (p.Val253=)
c.693G>A (p.Val231=)
5g.42711326G>CCA443847983GHRc.738G>C (p.Val246=)
c.672G>C (p.Val224=)
c.*350G>C (n.*350G>C)
c.759G>C (p.Val253=)
c.693G>C (p.Val231=)
5g.42711326G=CA1542304936GHRc.738G= (p.Val246=)
c.672G= (p.Val224=)
c.*350G= (n.*350G=)
c.759G= (p.Val253=)
c.693G= (p.Val231=)
5g.42711326G>TCA3254480GHRc.738G>T (p.Val246=)
c.672G>T (p.Val224=)
c.*350G>T (n.*350G>T)
c.759G>T (p.Val253=)
c.693G>T (p.Val231=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.42711326_42711383delinsGCTCTATGTAACACTTCCTCAGATGAGCCAATTTACATGTGAAGAAGGTAAAAGAAATCA1542304938GHRc.738_784+11delinsGCTCTATGTAACACTTCCTCAGATGAGCCAATTTACATGTGAAGAAGGTAAAAGAAAT
c.672_718+11delinsGCTCTATGTAACACTTCCTCAGATGAGCCAATTTACATGTGAAGAAGGTAAAAGAAAT
c.*350_*396+11delinsGCTCTATGTAACACTTCCTCAGATGAGCCAATTTACATGTGAAGAAGGTAAAAGAAAT
c.759_805+11delinsGCTCTATGTAACACTTCCTCAGATGAGCCAATTTACATGTGAAGAAGGTAAAAGAAAT
c.693_739+11delinsGCTCTATGTAACACTTCCTCAGATGAGCCAATTTACATGTGAAGAAGGTAAAAGAAAT
5g.42711327C>ACA359696040GHRc.739C>A (p.Leu247Ile)
c.673C>A (p.Leu225Ile)
c.*351C>A (n.*351C>A)
c.760C>A (p.Leu254Ile)
c.694C>A (p.Leu232Ile)
5g.42711327C>GCA359696041GHRc.739C>G (p.Leu247Val)
c.673C>G (p.Leu225Val)
c.*351C>G (n.*351C>G)
c.760C>G (p.Leu254Val)
c.694C>G (p.Leu232Val)
 gnomAD v4
5g.42711327C>TCA359696042GHRc.739C>T (p.Leu247Phe)
c.673C>T (p.Leu225Phe)
c.*351C>T (n.*351C>T)
c.760C>T (p.Leu254Phe)
c.694C>T (p.Leu232Phe)
 ClinVar
5g.42711327_42711383delCA559293443GHRc.739_784+11del
c.673_718+11del
c.*351_*396+11del
c.760_805+11del
c.694_739+11del
 dbSNP gnomAD v2 gnomAD v4
5g.42711328T>ACA359696043GHRc.740T>A (p.Leu247His)
c.674T>A (p.Leu225His)
c.*352T>A (n.*352T>A)
c.761T>A (p.Leu254His)
c.695T>A (p.Leu232His)
5g.42711328T>CCA359696044GHRc.740T>C (p.Leu247Pro)
c.674T>C (p.Leu225Pro)
c.*352T>C (n.*352T>C)
c.761T>C (p.Leu254Pro)
c.695T>C (p.Leu232Pro)
 gnomAD v4
5g.42711328T>GCA359696045GHRc.740T>G (p.Leu247Arg)
c.674T>G (p.Leu225Arg)
c.*352T>G (n.*352T>G)
c.761T>G (p.Leu254Arg)
c.695T>G (p.Leu232Arg)
5g.42711329C>ACA443847995GHRc.741C>A (p.Leu247=)
c.675C>A (p.Leu225=)
c.*353C>A (n.*353C>A)
c.762C>A (p.Leu254=)
c.696C>A (p.Leu232=)
5g.42711329C=CA1542304944GHRc.741C= (p.Leu247=)
c.675C= (p.Leu225=)
c.*353C= (n.*353C=)
c.762C= (p.Leu254=)
c.696C= (p.Leu232=)
5g.42711329C>GCA443847993GHRc.741C>G (p.Leu247=)
c.675C>G (p.Leu225=)
c.*353C>G (n.*353C>G)
c.762C>G (p.Leu254=)
c.696C>G (p.Leu232=)
 gnomAD v4
5g.42711329C>TCA3254481GHRc.741C>T (p.Leu247=)
c.675C>T (p.Leu225=)
c.*353C>T (n.*353C>T)
c.762C>T (p.Leu254=)
c.696C>T (p.Leu232=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42711330T>ACA359696046GHRc.742T>A (p.Tyr248Asn)
c.676T>A (p.Tyr226Asn)
c.*354T>A (n.*354T>A)
c.763T>A (p.Tyr255Asn)
c.697T>A (p.Tyr233Asn)
5g.42711330T>CCA3254482GHRc.742T>C (p.Tyr248His)
c.676T>C (p.Tyr226His)
c.*354T>C (n.*354T>C)
c.763T>C (p.Tyr255His)
c.697T>C (p.Tyr233His)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.42711330T>GCA359696047GHRc.742T>G (p.Tyr248Asp)
c.676T>G (p.Tyr226Asp)
c.*354T>G (n.*354T>G)
c.763T>G (p.Tyr255Asp)
c.697T>G (p.Tyr233Asp)
5g.42711330T=CA1542304947GHRc.742T= (p.Tyr248=)
c.676T= (p.Tyr226=)
c.*354T= (n.*354T=)
c.763T= (p.Tyr255=)
c.697T= (p.Tyr233=)
5g.42711331_42711332delCA2580073296GHRc.743_744del (p.Tyr248CysfsTer12)
c.677_678del (p.Tyr226CysfsTer12)
c.*355_*356del (n.*355_*356del)
c.764_765del (p.Tyr255CysfsTer12)
c.698_699del (p.Tyr233CysfsTer12)
 ClinVar
5g.42711331A=CA1542304954GHRc.743A= (p.Tyr248=)
c.677A= (p.Tyr226=)
c.*355A= (n.*355A=)
c.764A= (p.Tyr255=)
c.698A= (p.Tyr233=)
5g.42711331A>CCA359696049GHRc.743A>C (p.Tyr248Ser)
c.677A>C (p.Tyr226Ser)
c.*355A>C (n.*355A>C)
c.764A>C (p.Tyr255Ser)
c.698A>C (p.Tyr233Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.42711331A>GCA3254483GHRc.743A>G (p.Tyr248Cys)
c.677A>G (p.Tyr226Cys)
c.*355A>G (n.*355A>G)
c.764A>G (p.Tyr255Cys)
c.698A>G (p.Tyr233Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42711331A>TCA359696048GHRc.743A>T (p.Tyr248Phe)
c.677A>T (p.Tyr226Phe)
c.*355A>T (n.*355A>T)
c.764A>T (p.Tyr255Phe)
c.698A>T (p.Tyr233Phe)
 gnomAD v4 COSMIC
5g.42711332delCA2695204471GHRc.744del (p.Tyr248Ter)
c.678del (p.Tyr226Ter)
c.*356del (n.*356del)
c.765del (p.Tyr255Ter)
c.699del (p.Tyr233Ter)
 ClinVar
5g.42711332T>ACA359696050GHRc.744T>A (p.Tyr248Ter)
c.678T>A (p.Tyr226Ter)
c.*356T>A (n.*356T>A)
c.765T>A (p.Tyr255Ter)
c.699T>A (p.Tyr233Ter)
5g.42711332T>CCA3254484GHRc.744T>C (p.Tyr248=)
c.678T>C (p.Tyr226=)
c.*356T>C (n.*356T>C)
c.765T>C (p.Tyr255=)
c.699T>C (p.Tyr233=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42711332T>GCA359696051GHRc.744T>G (p.Tyr248Ter)
c.678T>G (p.Tyr226Ter)
c.*356T>G (n.*356T>G)
c.765T>G (p.Tyr255Ter)
c.699T>G (p.Tyr233Ter)
 dbSNP
5g.42711332T=CA1542304960GHRc.744T= (p.Tyr248=)
c.678T= (p.Tyr226=)
c.*356T= (n.*356T=)
c.765T= (p.Tyr255=)
c.699T= (p.Tyr233=)
5g.42711333G>ACA359696052GHRc.745G>A (p.Val249Ile)
c.679G>A (p.Val227Ile)
c.*357G>A (n.*357G>A)
c.766G>A (p.Val256Ile)
c.700G>A (p.Val234Ile)
 gnomAD v4
5g.42711333G>CCA359696053GHRc.745G>C (p.Val249Leu)
c.679G>C (p.Val227Leu)
c.*357G>C (n.*357G>C)
c.766G>C (p.Val256Leu)
c.700G>C (p.Val234Leu)
 gnomAD v4
5g.42711333G>TCA359696054GHRc.745G>T (p.Val249Leu)
c.679G>T (p.Val227Leu)
c.*357G>T (n.*357G>T)
c.766G>T (p.Val256Leu)
c.700G>T (p.Val234Leu)
5g.42711334T>ACA359696055GHRc.746T>A (p.Val249Glu)
c.680T>A (p.Val227Glu)
c.*358T>A (n.*358T>A)
c.767T>A (p.Val256Glu)
c.701T>A (p.Val234Glu)
 gnomAD v4
5g.42711334T>CCA359696056GHRc.746T>C (p.Val249Ala)
c.680T>C (p.Val227Ala)
c.*358T>C (n.*358T>C)
c.767T>C (p.Val256Ala)
c.701T>C (p.Val234Ala)
 ClinVar gnomAD v4
5g.42711334T>GCA359696057GHRc.746T>G (p.Val249Gly)
c.680T>G (p.Val227Gly)
c.*358T>G (n.*358T>G)
c.767T>G (p.Val256Gly)
c.701T>G (p.Val234Gly)
5g.42711335A>CCA443848014GHRc.747A>C (p.Val249=)
c.681A>C (p.Val227=)
c.*359A>C (n.*359A>C)
c.768A>C (p.Val256=)
c.702A>C (p.Val234=)
5g.42711335A>GCA443848015GHRc.747A>G (p.Val249=)
c.681A>G (p.Val227=)
c.*359A>G (n.*359A>G)
c.768A>G (p.Val256=)
c.702A>G (p.Val234=)
5g.42711335A>TCA443848016GHRc.747A>T (p.Val249=)
c.681A>T (p.Val227=)
c.*359A>T (n.*359A>T)
c.768A>T (p.Val256=)
c.702A>T (p.Val234=)
5g.42711336A=CA1542304964GHRc.748A= (p.Thr250=)
c.682A= (p.Thr228=)
c.*360A= (n.*360A=)
c.769A= (p.Thr257=)
c.703A= (p.Thr235=)
5g.42711336A>CCA359696058GHRc.748A>C (p.Thr250Pro)
c.682A>C (p.Thr228Pro)
c.*360A>C (n.*360A>C)
c.769A>C (p.Thr257Pro)
c.703A>C (p.Thr235Pro)
5g.42711336A>GCA359696059GHRc.748A>G (p.Thr250Ala)
c.682A>G (p.Thr228Ala)
c.*360A>G (n.*360A>G)
c.769A>G (p.Thr257Ala)
c.703A>G (p.Thr235Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.42711336A>TCA359696060GHRc.748A>T (p.Thr250Ser)
c.682A>T (p.Thr228Ser)
c.*360A>T (n.*360A>T)
c.769A>T (p.Thr257Ser)
c.703A>T (p.Thr235Ser)
5g.42711337C>ACA359696061GHRc.749C>A (p.Thr250Lys)
c.683C>A (p.Thr228Lys)
c.*361C>A (n.*361C>A)
c.770C>A (p.Thr257Lys)
c.704C>A (p.Thr235Lys)
5g.42711337C>GCA359696062GHRc.749C>G (p.Thr250Arg)
c.683C>G (p.Thr228Arg)
c.*361C>G (n.*361C>G)
c.770C>G (p.Thr257Arg)
c.704C>G (p.Thr235Arg)
5g.42711337C>TCA359696063GHRc.749C>T (p.Thr250Ile)
c.683C>T (p.Thr228Ile)
c.*361C>T (n.*361C>T)
c.770C>T (p.Thr257Ile)
c.704C>T (p.Thr235Ile)
 gnomAD v4
5g.42711338A>CCA443848025GHRc.750A>C (p.Thr250=)
c.684A>C (p.Thr228=)
c.*362A>C (n.*362A>C)
c.771A>C (p.Thr257=)
c.705A>C (p.Thr235=)
5g.42711338A>GCA443848027GHRc.750A>G (p.Thr250=)
c.684A>G (p.Thr228=)
c.*362A>G (n.*362A>G)
c.771A>G (p.Thr257=)
c.705A>G (p.Thr235=)
5g.42711338A>TCA443848028GHRc.750A>T (p.Thr250=)
c.684A>T (p.Thr228=)
c.*362A>T (n.*362A>T)
c.771A>T (p.Thr257=)
c.705A>T (p.Thr235=)
5g.42711339C>ACA359696066GHRc.751C>A (p.Leu251Ile)
c.685C>A (p.Leu229Ile)
c.*363C>A (n.*363C>A)
c.772C>A (p.Leu258Ile)
c.706C>A (p.Leu236Ile)
5g.42711339C>GCA359696065GHRc.751C>G (p.Leu251Val)
c.685C>G (p.Leu229Val)
c.*363C>G (n.*363C>G)
c.772C>G (p.Leu258Val)
c.706C>G (p.Leu236Val)
5g.42711339C>TCA359696064GHRc.751C>T (p.Leu251Phe)
c.685C>T (p.Leu229Phe)
c.*363C>T (n.*363C>T)
c.772C>T (p.Leu258Phe)
c.706C>T (p.Leu236Phe)
5g.42711340T>ACA359696067GHRc.752T>A (p.Leu251His)
c.686T>A (p.Leu229His)
c.*364T>A (n.*364T>A)
c.773T>A (p.Leu258His)
c.707T>A (p.Leu236His)
5g.42711340T>CCA359696068GHRc.752T>C (p.Leu251Pro)
c.686T>C (p.Leu229Pro)
c.*364T>C (n.*364T>C)
c.773T>C (p.Leu258Pro)
c.707T>C (p.Leu236Pro)
5g.42711340T>GCA359696069GHRc.752T>G (p.Leu251Arg)
c.686T>G (p.Leu229Arg)
c.*364T>G (n.*364T>G)
c.773T>G (p.Leu258Arg)
c.707T>G (p.Leu236Arg)
5g.42711341T>ACA443848038GHRc.753T>A (p.Leu251=)
c.687T>A (p.Leu229=)
c.*365T>A (n.*365T>A)
c.774T>A (p.Leu258=)
c.708T>A (p.Leu236=)
5g.42711341T>CCA443848039GHRc.753T>C (p.Leu251=)
c.687T>C (p.Leu229=)
c.*365T>C (n.*365T>C)
c.774T>C (p.Leu258=)
c.708T>C (p.Leu236=)
5g.42711341T>GCA443848040GHRc.753T>G (p.Leu251=)
c.687T>G (p.Leu229=)
c.*365T>G (n.*365T>G)
c.774T>G (p.Leu258=)
c.708T>G (p.Leu236=)
5g.42711342C>ACA359696070GHRc.754C>A (p.Pro252Thr)
c.688C>A (p.Pro230Thr)
c.*366C>A (n.*366C>A)
c.775C>A (p.Pro259Thr)
c.709C>A (p.Pro237Thr)
5g.42711342C>GCA359696071GHRc.754C>G (p.Pro252Ala)
c.688C>G (p.Pro230Ala)
c.*366C>G (n.*366C>G)
c.775C>G (p.Pro259Ala)
c.709C>G (p.Pro237Ala)
5g.42711342C>TCA359696072GHRc.754C>T (p.Pro252Ser)
c.688C>T (p.Pro230Ser)
c.*366C>T (n.*366C>T)
c.775C>T (p.Pro259Ser)
c.709C>T (p.Pro237Ser)
 gnomAD v4
5g.42711343C>ACA359696073GHRc.755C>A (p.Pro252His)
c.689C>A (p.Pro230His)
c.*367C>A (n.*367C>A)
c.776C>A (p.Pro259His)
c.710C>A (p.Pro237His)
5g.42711343C=CA1542304969GHRc.755C= (p.Pro252=)
c.689C= (p.Pro230=)
c.*367C= (n.*367C=)
c.776C= (p.Pro259=)
c.710C= (p.Pro237=)
5g.42711343C>GCA359696074GHRc.755C>G (p.Pro252Arg)
c.689C>G (p.Pro230Arg)
c.*367C>G (n.*367C>G)
c.776C>G (p.Pro259Arg)
c.710C>G (p.Pro237Arg)
 dbSNP gnomAD v2 gnomAD v4
5g.42711343C>TCA359696075GHRc.755C>T (p.Pro252Leu)
c.689C>T (p.Pro230Leu)
c.*367C>T (n.*367C>T)
c.776C>T (p.Pro259Leu)
c.710C>T (p.Pro237Leu)
5g.42711344T>ACA443848049GHRc.756T>A (p.Pro252=)
c.690T>A (p.Pro230=)
c.*368T>A (n.*368T>A)
c.777T>A (p.Pro259=)
c.711T>A (p.Pro237=)
5g.42711344T>CCA443848051GHRc.756T>C (p.Pro252=)
c.690T>C (p.Pro230=)
c.*368T>C (n.*368T>C)
c.777T>C (p.Pro259=)
c.711T>C (p.Pro237=)
5g.42711344T>GCA443848053GHRc.756T>G (p.Pro252=)
c.690T>G (p.Pro230=)
c.*368T>G (n.*368T>G)
c.777T>G (p.Pro259=)
c.711T>G (p.Pro237=)
5g.42711345delCA2573139698GHRc.757del (p.Gln253ArgfsTer2)
c.691del (p.Gln231ArgfsTer2)
c.*369del (n.*369del)
c.778del (p.Gln260ArgfsTer2)
c.712del (p.Gln238ArgfsTer2)
 ClinVar dbSNP
5g.42711345C>ACA359696076GHRc.757C>A (p.Gln253Lys)
c.691C>A (p.Gln231Lys)
c.*369C>A (n.*369C>A)
c.778C>A (p.Gln260Lys)
c.712C>A (p.Gln238Lys)
 ClinVar
5g.42711345C=CA1542304973GHRc.757C= (p.Gln253=)
c.691C= (p.Gln231=)
c.*369C= (n.*369C=)
c.778C= (p.Gln260=)
c.712C= (p.Gln238=)
5g.42711345C>GCA359696077GHRc.757C>G (p.Gln253Glu)
c.691C>G (p.Gln231Glu)
c.*369C>G (n.*369C>G)
c.778C>G (p.Gln260Glu)
c.712C>G (p.Gln238Glu)
5g.42711345C>TCA359696078GHRc.757C>T (p.Gln253Ter)
c.691C>T (p.Gln231Ter)
c.*369C>T (n.*369C>T)
c.778C>T (p.Gln260Ter)
c.712C>T (p.Gln238Ter)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.42711346A>CCA359696081GHRc.758A>C (p.Gln253Pro)
c.692A>C (p.Gln231Pro)
c.*370A>C (n.*370A>C)
c.779A>C (p.Gln260Pro)
c.713A>C (p.Gln238Pro)
5g.42711346A>GCA359696080GHRc.758A>G (p.Gln253Arg)
c.692A>G (p.Gln231Arg)
c.*370A>G (n.*370A>G)
c.779A>G (p.Gln260Arg)
c.713A>G (p.Gln238Arg)
5g.42711346A>TCA359696079GHRc.758A>T (p.Gln253Leu)
c.692A>T (p.Gln231Leu)
c.*370A>T (n.*370A>T)
c.779A>T (p.Gln260Leu)
c.713A>T (p.Gln238Leu)
5g.42711347G>ACA443848062GHRc.759G>A (p.Gln253=)
c.693G>A (p.Gln231=)
c.*371G>A (n.*371G>A)
c.780G>A (p.Gln260=)
c.714G>A (p.Gln238=)
5g.42711347G>CCA359696082GHRc.759G>C (p.Gln253His)
c.693G>C (p.Gln231His)
c.*371G>C (n.*371G>C)
c.780G>C (p.Gln260His)
c.714G>C (p.Gln238His)
5g.42711347G>TCA359696083GHRc.759G>T (p.Gln253His)
c.693G>T (p.Gln231His)
c.*371G>T (n.*371G>T)
c.780G>T (p.Gln260His)
c.714G>T (p.Gln238His)
5g.42711347_42711348delinsGACA1542304978GHRc.759_760delinsGA (p.Gln253=)
c.693_694delinsGA (p.Gln231=)
c.*371_*372delinsGA (n.*371_*372delinsGA)
c.780_781delinsGA (p.Gln260=)
c.714_715delinsGA (p.Gln238=)
5g.42711348delCA559293444GHRc.760del (p.Met254Ter)
c.694del (p.Met232Ter)
c.*372del (n.*372del)
c.781del (p.Met261Ter)
c.715del (p.Met239Ter)
 dbSNP gnomAD v2 gnomAD v4
5g.42711348A>CCA359696084GHRc.760A>C (p.Met254Leu)
c.694A>C (p.Met232Leu)
c.*372A>C (n.*372A>C)
c.781A>C (p.Met261Leu)
c.715A>C (p.Met239Leu)
5g.42711348A>GCA359696085GHRc.760A>G (p.Met254Val)
c.694A>G (p.Met232Val)
c.*372A>G (n.*372A>G)
c.781A>G (p.Met261Val)
c.715A>G (p.Met239Val)
 gnomAD v4
5g.42711348A>TCA359696086GHRc.760A>T (p.Met254Leu)
c.694A>T (p.Met232Leu)
c.*372A>T (n.*372A>T)
c.781A>T (p.Met261Leu)
c.715A>T (p.Met239Leu)
5g.42711349T>ACA359696089GHRc.761T>A (p.Met254Lys)
c.695T>A (p.Met232Lys)
c.*373T>A (n.*373T>A)
c.782T>A (p.Met261Lys)
c.716T>A (p.Met239Lys)
5g.42711349T>CCA359696088GHRc.761T>C (p.Met254Thr)
c.695T>C (p.Met232Thr)
c.*373T>C (n.*373T>C)
c.782T>C (p.Met261Thr)
c.716T>C (p.Met239Thr)
5g.42711349T>GCA359696087GHRc.761T>G (p.Met254Arg)
c.695T>G (p.Met232Arg)
c.*373T>G (n.*373T>G)
c.782T>G (p.Met261Arg)
c.716T>G (p.Met239Arg)
 gnomAD v4
5g.42711350G>ACA359696090GHRc.762G>A (p.Met254Ile)
c.696G>A (p.Met232Ile)
c.*374G>A (n.*374G>A)
c.783G>A (p.Met261Ile)
c.717G>A (p.Met239Ile)
 gnomAD v4
5g.42711350G>CCA359696091GHRc.762G>C (p.Met254Ile)
c.696G>C (p.Met232Ile)
c.*374G>C (n.*374G>C)
c.783G>C (p.Met261Ile)
c.717G>C (p.Met239Ile)
 gnomAD v4
5g.42711350G>TCA359696092GHRc.762G>T (p.Met254Ile)
c.696G>T (p.Met232Ile)
c.*374G>T (n.*374G>T)
c.783G>T (p.Met261Ile)
c.717G>T (p.Met239Ile)
5g.42711350_42711351delinsGACA1542304982GHRc.762_763delinsGA (p.Met254=)
c.696_697delinsGA (p.Met232=)
c.*374_*375delinsGA (n.*374_*375delinsGA)
c.783_784delinsGA (p.Met261=)
c.717_718delinsGA (p.Met239=)
5g.42711351delCA1542304985GHRc.763del (p.Ser255AlafsTer15)
c.697del (p.Ser233AlafsTer15)
c.*375del (n.*375del)
c.784del (p.Ser262AlafsTer15)
c.718del (p.Ser240AlafsTer15)
 dbSNP
5g.42711351A=CA1542304986GHRc.763A= (p.Ser255=)
c.697A= (p.Ser233=)
c.*375A= (n.*375A=)
c.784A= (p.Ser262=)
c.718A= (p.Ser240=)
5g.42711351A>CCA359696093GHRc.763A>C (p.Ser255Arg)
c.697A>C (p.Ser233Arg)
c.*375A>C (n.*375A>C)
c.784A>C (p.Ser262Arg)
c.718A>C (p.Ser240Arg)
5g.42711351A>GCA359696094GHRc.763A>G (p.Ser255Gly)
c.697A>G (p.Ser233Gly)
c.*375A>G (n.*375A>G)
c.784A>G (p.Ser262Gly)
c.718A>G (p.Ser240Gly)
 dbSNP gnomAD v3 gnomAD v4
5g.42711351A>TCA359696095GHRc.763A>T (p.Ser255Cys)
c.697A>T (p.Ser233Cys)
c.*375A>T (n.*375A>T)
c.784A>T (p.Ser262Cys)
c.718A>T (p.Ser240Cys)
5g.42711352G>ACA359696096GHRc.764G>A (p.Ser255Asn)
c.698G>A (p.Ser233Asn)
c.*376G>A (n.*376G>A)
c.785G>A (p.Ser262Asn)
c.719G>A (p.Ser240Asn)
 dbSNP
5g.42711352G>CCA359696097GHRc.764G>C (p.Ser255Thr)
c.698G>C (p.Ser233Thr)
c.*376G>C (n.*376G>C)
c.785G>C (p.Ser262Thr)
c.719G>C (p.Ser240Thr)
5g.42711352G=CA1542304989GHRc.764G= (p.Ser255=)
c.698G= (p.Ser233=)
c.*376G= (n.*376G=)
c.785G= (p.Ser262=)
c.719G= (p.Ser240=)
5g.42711352G>TCA118049497GHRc.764G>T (p.Ser255Ile)
c.698G>T (p.Ser233Ile)
c.*376G>T (n.*376G>T)
c.785G>T (p.Ser262Ile)
c.719G>T (p.Ser240Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.42711353C>ACA359696098GHRc.765C>A (p.Ser255Arg)
c.699C>A (p.Ser233Arg)
c.*377C>A (n.*377C>A)
c.786C>A (p.Ser262Arg)
c.720C>A (p.Ser240Arg)
5g.42711353C>GCA359696099GHRc.765C>G (p.Ser255Arg)
c.699C>G (p.Ser233Arg)
c.*377C>G (n.*377C>G)
c.786C>G (p.Ser262Arg)
c.720C>G (p.Ser240Arg)
5g.42711353C>TCA443848083GHRc.765C>T (p.Ser255=)
c.699C>T (p.Ser233=)
c.*377C>T (n.*377C>T)
c.786C>T (p.Ser262=)
c.720C>T (p.Ser240=)
5g.42711354C>ACA359696100GHRc.766C>A (p.Gln256Lys)
c.700C>A (p.Gln234Lys)
c.*378C>A (n.*378C>A)
c.787C>A (p.Gln263Lys)
c.721C>A (p.Gln241Lys)
 gnomAD v4
5g.42711354C=CA1542304991GHRc.766C= (p.Gln256=)
c.700C= (p.Gln234=)
c.*378C= (n.*378C=)
c.787C= (p.Gln263=)
c.721C= (p.Gln241=)
5g.42711354C>GCA359696101GHRc.766C>G (p.Gln256Glu)
c.700C>G (p.Gln234Glu)
c.*378C>G (n.*378C>G)
c.787C>G (p.Gln263Glu)
c.721C>G (p.Gln241Glu)
5g.42711354C>TCA359696102GHRc.766C>T (p.Gln256Ter)
c.700C>T (p.Gln234Ter)
c.*378C>T (n.*378C>T)
c.787C>T (p.Gln263Ter)
c.721C>T (p.Gln241Ter)
 dbSNP
5g.42711355A>CCA359696103GHRc.767A>C (p.Gln256Pro)
c.701A>C (p.Gln234Pro)
c.*379A>C (n.*379A>C)
c.788A>C (p.Gln263Pro)
c.722A>C (p.Gln241Pro)
5g.42711355A>GCA359696104GHRc.767A>G (p.Gln256Arg)
c.701A>G (p.Gln234Arg)
c.*379A>G (n.*379A>G)
c.788A>G (p.Gln263Arg)
c.722A>G (p.Gln241Arg)
5g.42711355A>TCA359696105GHRc.767A>T (p.Gln256Leu)
c.701A>T (p.Gln234Leu)
c.*379A>T (n.*379A>T)
c.788A>T (p.Gln263Leu)
c.722A>T (p.Gln241Leu)
5g.42711356A=CA1542304994GHRc.768A= (p.Gln256=)
c.702A= (p.Gln234=)
c.*380A= (n.*380A=)
c.789A= (p.Gln263=)
c.723A= (p.Gln241=)
5g.42711356A>CCA359696106GHRc.768A>C (p.Gln256His)
c.702A>C (p.Gln234His)
c.*380A>C (n.*380A>C)
c.789A>C (p.Gln263His)
c.723A>C (p.Gln241His)
5g.42711356A>GCA3254485GHRc.768A>G (p.Gln256=)
c.702A>G (p.Gln234=)
c.*380A>G (n.*380A>G)
c.789A>G (p.Gln263=)
c.723A>G (p.Gln241=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42711356A>TCA359696107GHRc.768A>T (p.Gln256His)
c.702A>T (p.Gln234His)
c.*380A>T (n.*380A>T)
c.789A>T (p.Gln263His)
c.723A>T (p.Gln241His)
5g.42711357T>ACA359696110GHRc.769T>A (p.Phe257Ile)
c.703T>A (p.Phe235Ile)
c.*381T>A (n.*381T>A)
c.790T>A (p.Phe264Ile)
c.724T>A (p.Phe242Ile)
5g.42711357T>CCA359696109GHRc.769T>C (p.Phe257Leu)
c.703T>C (p.Phe235Leu)
c.*381T>C (n.*381T>C)
c.790T>C (p.Phe264Leu)
c.724T>C (p.Phe242Leu)
5g.42711357T>GCA359696108GHRc.769T>G (p.Phe257Val)
c.703T>G (p.Phe235Val)
c.*381T>G (n.*381T>G)
c.790T>G (p.Phe264Val)
c.724T>G (p.Phe242Val)
5g.42711358T>ACA359696111GHRc.770T>A (p.Phe257Tyr)
c.704T>A (p.Phe235Tyr)
c.*382T>A (n.*382T>A)
c.791T>A (p.Phe264Tyr)
c.725T>A (p.Phe242Tyr)
 gnomAD v4
5g.42711358T>CCA359696112GHRc.770T>C (p.Phe257Ser)
c.704T>C (p.Phe235Ser)
c.*382T>C (n.*382T>C)
c.791T>C (p.Phe264Ser)
c.725T>C (p.Phe242Ser)
5g.42711358T>GCA359696113GHRc.770T>G (p.Phe257Cys)
c.704T>G (p.Phe235Cys)
c.*382T>G (n.*382T>G)
c.791T>G (p.Phe264Cys)
c.725T>G (p.Phe242Cys)
 COSMIC
5g.42711359T>ACA359696114GHRc.771T>A (p.Phe257Leu)
c.705T>A (p.Phe235Leu)
c.*383T>A (n.*383T>A)
c.792T>A (p.Phe264Leu)
c.726T>A (p.Phe242Leu)
5g.42711359T>CCA443848100GHRc.771T>C (p.Phe257=)
c.705T>C (p.Phe235=)
c.*383T>C (n.*383T>C)
c.792T>C (p.Phe264=)
c.726T>C (p.Phe242=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.42711359T>GCA359696115GHRc.771T>G (p.Phe257Leu)
c.705T>G (p.Phe235Leu)
c.*383T>G (n.*383T>G)
c.792T>G (p.Phe264Leu)
c.726T>G (p.Phe242Leu)
5g.42711359T=CA1542304997GHRc.771T= (p.Phe257=)
c.705T= (p.Phe235=)
c.*383T= (n.*383T=)
c.792T= (p.Phe264=)
c.726T= (p.Phe242=)
5g.42711360A>CCA359696118GHRc.772A>C (p.Thr258Pro)
c.706A>C (p.Thr236Pro)
c.*384A>C (n.*384A>C)
c.793A>C (p.Thr265Pro)
c.727A>C (p.Thr243Pro)
5g.42711360A>GCA359696117GHRc.772A>G (p.Thr258Ala)
c.706A>G (p.Thr236Ala)
c.*384A>G (n.*384A>G)
c.793A>G (p.Thr265Ala)
c.727A>G (p.Thr243Ala)
5g.42711360A>TCA359696116GHRc.772A>T (p.Thr258Ser)
c.706A>T (p.Thr236Ser)
c.*384A>T (n.*384A>T)
c.793A>T (p.Thr265Ser)
c.727A>T (p.Thr243Ser)
5g.42711361C>ACA359696119GHRc.773C>A (p.Thr258Lys)
c.707C>A (p.Thr236Lys)
c.*385C>A (n.*385C>A)
c.794C>A (p.Thr265Lys)
c.728C>A (p.Thr243Lys)
 gnomAD v4 COSMIC
5g.42711361C>GCA359696120GHRc.773C>G (p.Thr258Arg)
c.707C>G (p.Thr236Arg)
c.*385C>G (n.*385C>G)
c.794C>G (p.Thr265Arg)
c.728C>G (p.Thr243Arg)
5g.42711361C>TCA359696121GHRc.773C>T (p.Thr258Ile)
c.707C>T (p.Thr236Ile)
c.*385C>T (n.*385C>T)
c.794C>T (p.Thr265Ile)
c.728C>T (p.Thr243Ile)
 gnomAD v4
5g.42711362A>CCA443848109GHRc.774A>C (p.Thr258=)
c.708A>C (p.Thr236=)
c.*386A>C (n.*386A>C)
c.795A>C (p.Thr265=)
c.729A>C (p.Thr243=)
5g.42711362A>GCA443848112GHRc.774A>G (p.Thr258=)
c.708A>G (p.Thr236=)
c.*386A>G (n.*386A>G)
c.795A>G (p.Thr265=)
c.729A>G (p.Thr243=)
 gnomAD v4
5g.42711362A>TCA443848111GHRc.774A>T (p.Thr258=)
c.708A>T (p.Thr236=)
c.*386A>T (n.*386A>T)
c.795A>T (p.Thr265=)
c.729A>T (p.Thr243=)
 dbSNP gnomAD v3 gnomAD v4
5g.42711363T>ACA359696122GHRc.775T>A (p.Cys259Ser)
c.709T>A (p.Cys237Ser)
c.*387T>A (n.*387T>A)
c.796T>A (p.Cys266Ser)
c.730T>A (p.Cys244Ser)
 gnomAD v4
5g.42711363T>CCA359696123GHRc.775T>C (p.Cys259Arg)
c.709T>C (p.Cys237Arg)
c.*387T>C (n.*387T>C)
c.796T>C (p.Cys266Arg)
c.730T>C (p.Cys244Arg)
5g.42711363T>GCA359696124GHRc.775T>G (p.Cys259Gly)
c.709T>G (p.Cys237Gly)
c.*387T>G (n.*387T>G)
c.796T>G (p.Cys266Gly)
c.730T>G (p.Cys244Gly)
5g.42711364G>ACA359696127GHRc.776G>A (p.Cys259Tyr)
c.710G>A (p.Cys237Tyr)
c.*388G>A (n.*388G>A)
c.797G>A (p.Cys266Tyr)
c.731G>A (p.Cys244Tyr)
 dbSNP gnomAD v4
5g.42711364G>CCA359696125GHRc.776G>C (p.Cys259Ser)
c.710G>C (p.Cys237Ser)
c.*388G>C (n.*388G>C)
c.797G>C (p.Cys266Ser)
c.731G>C (p.Cys244Ser)
5g.42711364G=CA1542305001GHRc.776G= (p.Cys259=)
c.710G= (p.Cys237=)
c.*388G= (n.*388G=)
c.797G= (p.Cys266=)
c.731G= (p.Cys244=)
5g.42711364G>TCA359696126GHRc.776G>T (p.Cys259Phe)
c.710G>T (p.Cys237Phe)
c.*388G>T (n.*388G>T)
c.797G>T (p.Cys266Phe)
c.731G>T (p.Cys244Phe)
 gnomAD v4
5g.42711365T>ACA359696128GHRc.777T>A (p.Cys259Ter)
c.711T>A (p.Cys237Ter)
c.*389T>A (n.*389T>A)
c.798T>A (p.Cys266Ter)
c.732T>A (p.Cys244Ter)
5g.42711365T>CCA443848122GHRc.777T>C (p.Cys259=)
c.711T>C (p.Cys237=)
c.*389T>C (n.*389T>C)
c.798T>C (p.Cys266=)
c.732T>C (p.Cys244=)
5g.42711365T>GCA359696129GHRc.777T>G (p.Cys259Trp)
c.711T>G (p.Cys237Trp)
c.*389T>G (n.*389T>G)
c.798T>G (p.Cys266Trp)
c.732T>G (p.Cys244Trp)
 COSMIC
5g.42711366G>ACA359696130GHRc.778G>A (p.Glu260Lys)
c.712G>A (p.Glu238Lys)
c.*390G>A (n.*390G>A)
c.799G>A (p.Glu267Lys)
c.733G>A (p.Glu245Lys)
 COSMIC
5g.42711366G>CCA359696131GHRc.778G>C (p.Glu260Gln)
c.712G>C (p.Glu238Gln)
c.*390G>C (n.*390G>C)
c.799G>C (p.Glu267Gln)
c.733G>C (p.Glu245Gln)
5g.42711366G>TCA359696132GHRc.778G>T (p.Glu260Ter)
c.712G>T (p.Glu238Ter)
c.*390G>T (n.*390G>T)
c.799G>T (p.Glu267Ter)
c.733G>T (p.Glu245Ter)
 COSMIC
5g.42711370_42711372delCA2673724022GHRc.782_784del (p.Glu261del)
c.716_718del (p.Glu239del)
c.*394_*396del (n.*394_*396del)
c.803_805del (p.Glu268del)
c.737_739del (p.Glu246del)
 gnomAD v4
5g.42711367A>CCA359696133GHRc.779A>C (p.Glu260Ala)
c.713A>C (p.Glu238Ala)
c.*391A>C (n.*391A>C)
c.800A>C (p.Glu267Ala)
c.734A>C (p.Glu245Ala)
5g.42711367A>GCA359696134GHRc.779A>G (p.Glu260Gly)
c.713A>G (p.Glu238Gly)
c.*391A>G (n.*391A>G)
c.800A>G (p.Glu267Gly)
c.734A>G (p.Glu245Gly)
5g.42711367A>TCA359696135GHRc.779A>T (p.Glu260Val)
c.713A>T (p.Glu238Val)
c.*391A>T (n.*391A>T)
c.800A>T (p.Glu267Val)
c.734A>T (p.Glu245Val)
5g.42711372_42711381delCA2673724023GHRc.784_784+9del
c.718_718+9del
c.*396_*396+9del
c.805_805+9del
c.739_739+9del
 gnomAD v4
5g.42711368A=CA1542305004GHRc.780A= (p.Glu260=)
c.714A= (p.Glu238=)
c.*392A= (n.*392A=)
c.801A= (p.Glu267=)
c.735A= (p.Glu245=)
5g.42711368A>CCA359696136GHRc.780A>C (p.Glu260Asp)
c.714A>C (p.Glu238Asp)
c.*392A>C (n.*392A>C)
c.801A>C (p.Glu267Asp)
c.735A>C (p.Glu245Asp)
 ClinVar dbSNP gnomAD v4
5g.42711368A>GCA443848139GHRc.780A>G (p.Glu260=)
c.714A>G (p.Glu238=)
c.*392A>G (n.*392A>G)
c.801A>G (p.Glu267=)
c.735A>G (p.Glu245=)
5g.42711368A>TCA359696137GHRc.780A>T (p.Glu260Asp)
c.714A>T (p.Glu238Asp)
c.*392A>T (n.*392A>T)
c.801A>T (p.Glu267Asp)
c.735A>T (p.Glu245Asp)
5g.42711369G>ACA359696138GHRc.781G>A (p.Glu261Lys)
c.715G>A (p.Glu239Lys)
c.*393G>A (n.*393G>A)
c.802G>A (p.Glu268Lys)
c.736G>A (p.Glu246Lys)
 ClinVar dbSNP
5g.42711369G>CCA359696139GHRc.781G>C (p.Glu261Gln)
c.715G>C (p.Glu239Gln)
c.*393G>C (n.*393G>C)
c.802G>C (p.Glu268Gln)
c.736G>C (p.Glu246Gln)
5g.42711369G=CA1542305008GHRc.781G= (p.Glu261=)
c.715G= (p.Glu239=)
c.*393G= (n.*393G=)
c.802G= (p.Glu268=)
c.736G= (p.Glu246=)
5g.42711369G>TCA359696140GHRc.781G>T (p.Glu261Ter)
c.715G>T (p.Glu239Ter)
c.*393G>T (n.*393G>T)
c.802G>T (p.Glu268Ter)
c.736G>T (p.Glu246Ter)
5g.42711370A>CCA359696141GHRc.782A>C (p.Glu261Ala)
c.716A>C (p.Glu239Ala)
c.*394A>C (n.*394A>C)
c.803A>C (p.Glu268Ala)
c.737A>C (p.Glu246Ala)
5g.42711370A>GCA359696143GHRc.782A>G (p.Glu261Gly)
c.716A>G (p.Glu239Gly)
c.*394A>G (n.*394A>G)
c.803A>G (p.Glu268Gly)
c.737A>G (p.Glu246Gly)
5g.42711370A>TCA359696142GHRc.782A>T (p.Glu261Val)
c.716A>T (p.Glu239Val)
c.*394A>T (n.*394A>T)
c.803A>T (p.Glu268Val)
c.737A>T (p.Glu246Val)
5g.42711371A>CCA359696144GHRc.783A>C (p.Glu261Asp)
c.717A>C (p.Glu239Asp)
c.*395A>C (n.*395A>C)
c.804A>C (p.Glu268Asp)
c.738A>C (p.Glu246Asp)
5g.42711371A>GCA443848151GHRc.783A>G (p.Glu261=)
c.717A>G (p.Glu239=)
c.*395A>G (n.*395A>G)
c.804A>G (p.Glu268=)
c.738A>G (p.Glu246=)
5g.42711371A>TCA359696145GHRc.783A>T (p.Glu261Asp)
c.717A>T (p.Glu239Asp)
c.*395A>T (n.*395A>T)
c.804A>T (p.Glu268Asp)
c.738A>T (p.Glu246Asp)
5g.42711372G>ACA359696146GHRc.784G>A (p.Asp262Asn)
c.718G>A (p.Asp240Asn)
c.*396G>A (n.*396G>A)
c.805G>A (p.Asp269Asn)
c.739G>A (p.Asp247Asn)
 gnomAD v4
5g.42711372G>CCA359696147GHRc.784G>C (p.Asp262His)
c.718G>C (p.Asp240His)
c.*396G>C (n.*396G>C)
c.805G>C (p.Asp269His)
c.739G>C (p.Asp247His)
5g.42711372G>TCA359696148GHRc.784G>T (p.Asp262Tyr)
c.718G>T (p.Asp240Tyr)
c.*396G>T (n.*396G>T)
c.805G>T (p.Asp269Tyr)
c.739G>T (p.Asp247Tyr)
5g.42711373G>ACA359696149GHRc.784+1G>A (n.784+1G>A)
c.718+1G>A (n.718+1G>A)
c.*396+1G>A (n.*396+1G>A)
c.805+1G>A (n.805+1G>A)
c.739+1G>A (n.739+1G>A)
 gnomAD v4 COSMIC
5g.42711373G>CCA359696150GHRc.784+1G>C (n.784+1G>C)
c.718+1G>C (n.718+1G>C)
c.*396+1G>C (n.*396+1G>C)
c.805+1G>C (n.805+1G>C)
c.739+1G>C (n.739+1G>C)
5g.42711373G>TCA359696151GHRc.784+1G>T (n.784+1G>T)
c.718+1G>T (n.718+1G>T)
c.*396+1G>T (n.*396+1G>T)
c.805+1G>T (n.805+1G>T)
c.739+1G>T (n.739+1G>T)
5g.42711374T>ACA359696152GHRc.784+2T>A (n.784+2T>A)
c.718+2T>A (n.718+2T>A)
c.*396+2T>A (n.*396+2T>A)
c.805+2T>A (n.805+2T>A)
c.739+2T>A (n.739+2T>A)
5g.42711374T>CCA359696153GHRc.784+2T>C (n.784+2T>C)
c.718+2T>C (n.718+2T>C)
c.*396+2T>C (n.*396+2T>C)
c.805+2T>C (n.805+2T>C)
c.739+2T>C (n.739+2T>C)
 dbSNP gnomAD v2 gnomAD v4
5g.42711374T>GCA359696154GHRc.784+2T>G (n.784+2T>G)
c.718+2T>G (n.718+2T>G)
c.*396+2T>G (n.*396+2T>G)
c.805+2T>G (n.805+2T>G)
c.739+2T>G (n.739+2T>G)
5g.42711374T=CA1542305014GHRc.784+2T= (n.784+2T=)
c.718+2T= (n.718+2T=)
c.*396+2T= (n.*396+2T=)
c.805+2T= (n.805+2T=)
c.739+2T= (n.739+2T=)
5g.42711375A=CA1542305018GHRc.784+3A= (n.784+3A=)
c.718+3A= (n.718+3A=)
c.*396+3A= (n.*396+3A=)
c.805+3A= (n.805+3A=)
c.739+3A= (n.739+3A=)
5g.42711375A>GCA3254486GHRc.784+3A>G (n.784+3A>G)
c.718+3A>G (n.718+3A>G)
c.*396+3A>G (n.*396+3A>G)
c.805+3A>G (n.805+3A>G)
c.739+3A>G (n.739+3A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.42711376A=CA1542305021GHRc.784+4A= (n.784+4A=)
c.718+4A= (n.718+4A=)
c.*396+4A= (n.*396+4A=)
c.805+4A= (n.805+4A=)
c.739+4A= (n.739+4A=)
5g.42711376A>CCA559293445GHRc.784+4A>C (n.784+4A>C)
c.718+4A>C (n.718+4A>C)
c.*396+4A>C (n.*396+4A>C)
c.805+4A>C (n.805+4A>C)
c.739+4A>C (n.739+4A>C)
 dbSNP gnomAD v2 gnomAD v4
5g.42711376_42711377insTATTTTCA3254487GHRc.784+4_784+5insTATTTT (n.784+4_784+5insTATTTT)
c.718+4_718+5insTATTTT (n.718+4_718+5insTATTTT)
c.*396+4_*396+5insTATTTT (n.*396+4_*396+5insTATTTT)
c.805+4_805+5insTATTTT (n.805+4_805+5insTATTTT)
c.739+4_739+5insTATTTT (n.739+4_739+5insTATTTT)
 dbSNP ExAC
5g.42711378A=CA1542305024GHRc.784+6A= (n.784+6A=)
c.718+6A= (n.718+6A=)
c.*396+6A= (n.*396+6A=)
c.805+6A= (n.805+6A=)
c.739+6A= (n.739+6A=)
5g.42711378A>GCA3254488GHRc.784+6A>G (n.784+6A>G)
c.718+6A>G (n.718+6A>G)
c.*396+6A>G (n.*396+6A>G)
c.805+6A>G (n.805+6A>G)
c.739+6A>G (n.739+6A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42711379delCA2673724024GHRc.784+7del (n.784+7del)
c.718+7del (n.718+7del)
c.*396+7del (n.*396+7del)
c.805+7del (n.805+7del)
c.739+7del (n.739+7del)
 gnomAD v4
5g.42711379G>CCA3254489GHRc.784+7G>C (n.784+7G>C)
c.718+7G>C (n.718+7G>C)
c.*396+7G>C (n.*396+7G>C)
c.805+7G>C (n.805+7G>C)
c.739+7G>C (n.739+7G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42711379G=CA1542305027GHRc.784+7G= (n.784+7G=)
c.718+7G= (n.718+7G=)
c.*396+7G= (n.*396+7G=)
c.805+7G= (n.805+7G=)
c.739+7G= (n.739+7G=)
5g.42711379G>TCA2578302145GHRc.784+7G>T (n.784+7G>T)
c.718+7G>T (n.718+7G>T)
c.*396+7G>T (n.*396+7G>T)
c.805+7G>T (n.805+7G>T)
c.739+7G>T (n.739+7G>T)
 gnomAD v4
5g.42711383T>ACA2766052885GHRc.784+11T>A (n.784+11T>A)
c.718+11T>A (n.718+11T>A)
c.*396+11T>A (n.*396+11T>A)
c.805+11T>A (n.805+11T>A)
c.739+11T>A (n.739+11T>A)
5g.42711383T>CCA1542305030GHRc.784+11T>C (n.784+11T>C)
c.718+11T>C (n.718+11T>C)
c.*396+11T>C (n.*396+11T>C)
c.805+11T>C (n.805+11T>C)
c.739+11T>C (n.739+11T>C)
 dbSNP
5g.42711383T=CA1542305029GHRc.784+11T= (n.784+11T=)
c.718+11T= (n.718+11T=)
c.*396+11T= (n.*396+11T=)
c.805+11T= (n.805+11T=)
c.739+11T= (n.739+11T=)
5g.42711384A=CA1542305032GHRc.784+12A= (n.784+12A=)
c.718+12A= (n.718+12A=)
c.*396+12A= (n.*396+12A=)
c.805+12A= (n.805+12A=)
c.739+12A= (n.739+12A=)
5g.42711384A>GCA559293446GHRc.784+12A>G (n.784+12A>G)
c.718+12A>G (n.718+12A>G)
c.*396+12A>G (n.*396+12A>G)
c.805+12A>G (n.805+12A>G)
c.739+12A>G (n.739+12A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.42711384_42711401delCA2673724025GHRc.784+12_784+29del (n.784+12_784+29del)
c.718+12_718+29del (n.718+12_718+29del)
c.*396+12_*396+29del (n.*396+12_*396+29del)
c.805+12_805+29del (n.805+12_805+29del)
c.739+12_739+29del (n.739+12_739+29del)
 gnomAD v4
5g.42711385_42711386insCCAAACACACCCAACACCA2766052886GHRc.784+13_784+14insCCAAACACACCCAACAC (n.784+13_784+14insCCAAACACACCCAACAC)
c.718+13_718+14insCCAAACACACCCAACAC (n.718+13_718+14insCCAAACACACCCAACAC)
c.*396+13_*396+14insCCAAACACACCCAACAC (n.*396+13_*396+14insCCAAACACACCCAACAC)
c.805+13_805+14insCCAAACACACCCAACAC (n.805+13_805+14insCCAAACACACCCAACAC)
c.739+13_739+14insCCAAACACACCCAACAC (n.739+13_739+14insCCAAACACACCCAACAC)
5g.42711387A>GCA2673724026GHRc.784+15A>G (n.784+15A>G)
c.718+15A>G (n.718+15A>G)
c.*396+15A>G (n.*396+15A>G)
c.805+15A>G (n.805+15A>G)
c.739+15A>G (n.739+15A>G)
 gnomAD v4
5g.42711388G>ACA3254490GHRc.784+16G>A (n.784+16G>A)
c.718+16G>A (n.718+16G>A)
c.*396+16G>A (n.*396+16G>A)
c.805+16G>A (n.805+16G>A)
c.739+16G>A (n.739+16G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42711388G>CCA2578302146GHRc.784+16G>C (n.784+16G>C)
c.718+16G>C (n.718+16G>C)
c.*396+16G>C (n.*396+16G>C)
c.805+16G>C (n.805+16G>C)
c.739+16G>C (n.739+16G>C)
 gnomAD v4
5g.42711388G=CA1542305034GHRc.784+16G= (n.784+16G=)
c.718+16G= (n.718+16G=)
c.*396+16G= (n.*396+16G=)
c.805+16G= (n.805+16G=)
c.739+16G= (n.739+16G=)
5g.42711388G>TCA2578302147GHRc.784+16G>T (n.784+16G>T)
c.718+16G>T (n.718+16G>T)
c.*396+16G>T (n.*396+16G>T)
c.805+16G>T (n.805+16G>T)
c.739+16G>T (n.739+16G>T)
5g.42711389A>GCA2673724027GHRc.784+17A>G (n.784+17A>G)
c.718+17A>G (n.718+17A>G)
c.*396+17A>G (n.*396+17A>G)
c.805+17A>G (n.805+17A>G)
c.739+17A>G (n.739+17A>G)
 gnomAD v4
5g.42711389A>TCA2673724028GHRc.784+17A>T (n.784+17A>T)
c.718+17A>T (n.718+17A>T)
c.*396+17A>T (n.*396+17A>T)
c.805+17A>T (n.805+17A>T)
c.739+17A>T (n.739+17A>T)
 gnomAD v4
5g.42711390T>CCA2578302148GHRc.784+18T>C (n.784+18T>C)
c.718+18T>C (n.718+18T>C)
c.*396+18T>C (n.*396+18T>C)
c.805+18T>C (n.805+18T>C)
c.739+18T>C (n.739+18T>C)
5g.42711391T>ACA2673724029GHRc.784+19T>A (n.784+19T>A)
c.718+19T>A (n.718+19T>A)
c.*396+19T>A (n.*396+19T>A)
c.805+19T>A (n.805+19T>A)
c.739+19T>A (n.739+19T>A)
 gnomAD v4
5g.42711393A=CA1542305036GHRc.784+21A= (n.784+21A=)
c.718+21A= (n.718+21A=)
c.*396+21A= (n.*396+21A=)
c.805+21A= (n.805+21A=)
c.739+21A= (n.739+21A=)
5g.42711393A>GCA810832885GHRc.784+21A>G (n.784+21A>G)
c.718+21A>G (n.718+21A>G)
c.*396+21A>G (n.*396+21A>G)
c.805+21A>G (n.805+21A>G)
c.739+21A>G (n.739+21A>G)
 dbSNP gnomAD v3 gnomAD v4
5g.42711394A=CA1542305038GHRc.784+22A= (n.784+22A=)
c.718+22A= (n.718+22A=)
c.*396+22A= (n.*396+22A=)
c.805+22A= (n.805+22A=)
c.739+22A= (n.739+22A=)
5g.42711394A>CCA1542305039GHRc.784+22A>C (n.784+22A>C)
c.718+22A>C (n.718+22A>C)
c.*396+22A>C (n.*396+22A>C)
c.805+22A>C (n.805+22A>C)
c.739+22A>C (n.739+22A>C)
 dbSNP
5g.42711395A=CA1542305041GHRc.784+23A= (n.784+23A=)
c.718+23A= (n.718+23A=)
c.*396+23A= (n.*396+23A=)
c.805+23A= (n.805+23A=)
c.739+23A= (n.739+23A=)
5g.42711395A>GCA559293447GHRc.784+23A>G (n.784+23A>G)
c.718+23A>G (n.718+23A>G)
c.*396+23A>G (n.*396+23A>G)
c.805+23A>G (n.805+23A>G)
c.739+23A>G (n.739+23A>G)
 dbSNP gnomAD v2
5g.42711396T>CCA1542305046GHRc.784+24T>C (n.784+24T>C)
c.718+24T>C (n.718+24T>C)
c.*396+24T>C (n.*396+24T>C)
c.805+24T>C (n.805+24T>C)
c.739+24T>C (n.739+24T>C)
 dbSNP gnomAD v4
5g.42711396T=CA1542305044GHRc.784+24T= (n.784+24T=)
c.718+24T= (n.718+24T=)
c.*396+24T= (n.*396+24T=)
c.805+24T= (n.805+24T=)
c.739+24T= (n.739+24T=)
5g.42711397A=CA1542305047GHRc.784+25A= (n.784+25A=)
c.718+25A= (n.718+25A=)
c.*396+25A= (n.*396+25A=)
c.805+25A= (n.805+25A=)
c.739+25A= (n.739+25A=)
5g.42711397A>GCA2673724030GHRc.784+25A>G (n.784+25A>G)
c.718+25A>G (n.718+25A>G)
c.*396+25A>G (n.*396+25A>G)
c.805+25A>G (n.805+25A>G)
c.739+25A>G (n.739+25A>G)
 gnomAD v4
5g.42711397_42711398insTAAACCA559293448GHRc.784+25_784+26insTAAAC (n.784+25_784+26insTAAAC)
c.718+25_718+26insTAAAC (n.718+25_718+26insTAAAC)
c.*396+25_*396+26insTAAAC (n.*396+25_*396+26insTAAAC)
c.805+25_805+26insTAAAC (n.805+25_805+26insTAAAC)
c.739+25_739+26insTAAAC (n.739+25_739+26insTAAAC)
 dbSNP gnomAD v2
5g.42711397_42711398insTTGAACCAGCCTTGCATCCCAGGGATCA2673724031GHRc.784+25_784+26insTTGAACCAGCCTTGCATCCCAGGGAT (n.784+25_784+26insTTGAACCAGCCTTGCATCCCAGGGAT)
c.718+25_718+26insTTGAACCAGCCTTGCATCCCAGGGAT (n.718+25_718+26insTTGAACCAGCCTTGCATCCCAGGGAT)
c.*396+25_*396+26insTTGAACCAGCCTTGCATCCCAGGGAT (n.*396+25_*396+26insTTGAACCAGCCTTGCATCCCAGGGAT)
c.805+25_805+26insTTGAACCAGCCTTGCATCCCAGGGAT (n.805+25_805+26insTTGAACCAGCCTTGCATCCCAGGGAT)
c.739+25_739+26insTTGAACCAGCCTTGCATCCCAGGGAT (n.739+25_739+26insTTGAACCAGCCTTGCATCCCAGGGAT)
 gnomAD v4
5g.42711398G>ACA3254491GHRc.784+26G>A (n.784+26G>A)
c.718+26G>A (n.718+26G>A)
c.*396+26G>A (n.*396+26G>A)
c.805+26G>A (n.805+26G>A)
c.739+26G>A (n.739+26G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42711398G=CA1542305053GHRc.784+26G= (n.784+26G=)
c.718+26G= (n.718+26G=)
c.*396+26G= (n.*396+26G=)
c.805+26G= (n.805+26G=)
c.739+26G= (n.739+26G=)
5g.42711398G>TCA3254492GHRc.784+26G>T (n.784+26G>T)
c.718+26G>T (n.718+26G>T)
c.*396+26G>T (n.*396+26G>T)
c.805+26G>T (n.805+26G>T)
c.739+26G>T (n.739+26G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.42711399T>ACA2673724032GHRc.784+27T>A (n.784+27T>A)
c.718+27T>A (n.718+27T>A)
c.*396+27T>A (n.*396+27T>A)
c.805+27T>A (n.805+27T>A)
c.739+27T>A (n.739+27T>A)
 gnomAD v4
5g.42711399T>CCA559293449GHRc.784+27T>C (n.784+27T>C)
c.718+27T>C (n.718+27T>C)
c.*396+27T>C (n.*396+27T>C)
c.805+27T>C (n.805+27T>C)
c.739+27T>C (n.739+27T>C)
 dbSNP gnomAD v2
5g.42711399T=CA1542305057GHRc.784+27T= (n.784+27T=)
c.718+27T= (n.718+27T=)
c.*396+27T= (n.*396+27T=)
c.805+27T= (n.805+27T=)
c.739+27T= (n.739+27T=)
5g.42711400A>GCA2673724033GHRc.784+28A>G (n.784+28A>G)
c.718+28A>G (n.718+28A>G)
c.*396+28A>G (n.*396+28A>G)
c.805+28A>G (n.805+28A>G)
c.739+28A>G (n.739+28A>G)
 gnomAD v4
5g.42711402C>ACA2673724034GHRc.784+30C>A (n.784+30C>A)
c.718+30C>A (n.718+30C>A)
c.*396+30C>A (n.*396+30C>A)
c.805+30C>A (n.805+30C>A)
c.739+30C>A (n.739+30C>A)
 gnomAD v4
5g.42711402C>GCA2673724035GHRc.784+30C>G (n.784+30C>G)
c.718+30C>G (n.718+30C>G)
c.*396+30C>G (n.*396+30C>G)
c.805+30C>G (n.805+30C>G)
c.739+30C>G (n.739+30C>G)
 gnomAD v4
5g.42711403T>CCA2673724036GHRc.784+31T>C (n.784+31T>C)
c.718+31T>C (n.718+31T>C)
c.*396+31T>C (n.*396+31T>C)
c.805+31T>C (n.805+31T>C)
c.739+31T>C (n.739+31T>C)
 gnomAD v4
5g.42711404A=CA1542305059GHRc.784+32A= (n.784+32A=)
c.718+32A= (n.718+32A=)
c.*396+32A= (n.*396+32A=)
c.805+32A= (n.805+32A=)
c.739+32A= (n.739+32A=)
5g.42711404A>TCA1075490975GHRc.784+32A>T (n.784+32A>T)
c.718+32A>T (n.718+32A>T)
c.*396+32A>T (n.*396+32A>T)
c.805+32A>T (n.805+32A>T)
c.739+32A>T (n.739+32A>T)
 dbSNP gnomAD v3 gnomAD v4
5g.42711404_42711416delCA2673724037GHRc.784+32_784+44del (n.784+32_784+44del)
c.718+32_718+44del (n.718+32_718+44del)
c.*396+32_*396+44del (n.*396+32_*396+44del)
c.805+32_805+44del (n.805+32_805+44del)
c.739+32_739+44del (n.739+32_739+44del)
 gnomAD v4
5g.42711406C>ACA3254493GHRc.784+34C>A (n.784+34C>A)
c.718+34C>A (n.718+34C>A)
c.*396+34C>A (n.*396+34C>A)
c.805+34C>A (n.805+34C>A)
c.739+34C>A (n.739+34C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42711406C=CA1542305061GHRc.784+34C= (n.784+34C=)
c.718+34C= (n.718+34C=)
c.*396+34C= (n.*396+34C=)
c.805+34C= (n.805+34C=)
c.739+34C= (n.739+34C=)
5g.42711407C>ACA2578302149GHRc.784+35C>A (n.784+35C>A)
c.718+35C>A (n.718+35C>A)
c.*396+35C>A (n.*396+35C>A)
c.805+35C>A (n.805+35C>A)
c.739+35C>A (n.739+35C>A)
 gnomAD v4
5g.42711407C=CA1542305063GHRc.784+35C= (n.784+35C=)
c.718+35C= (n.718+35C=)
c.*396+35C= (n.*396+35C=)
c.805+35C= (n.805+35C=)
c.739+35C= (n.739+35C=)
5g.42711407C>TCA559293450GHRc.784+35C>T (n.784+35C>T)
c.718+35C>T (n.718+35C>T)
c.*396+35C>T (n.*396+35C>T)
c.805+35C>T (n.805+35C>T)
c.739+35C>T (n.739+35C>T)
 dbSNP gnomAD v2 gnomAD v4
5g.42711408T>CCA2673724038GHRc.784+36T>C (n.784+36T>C)
c.718+36T>C (n.718+36T>C)
c.*396+36T>C (n.*396+36T>C)
c.805+36T>C (n.805+36T>C)
c.739+36T>C (n.739+36T>C)
 gnomAD v4
5g.42711409G>CCA118049498GHRc.784+37G>C (n.784+37G>C)
c.718+37G>C (n.718+37G>C)
c.*396+37G>C (n.*396+37G>C)
c.805+37G>C (n.805+37G>C)
c.739+37G>C (n.739+37G>C)
 dbSNP
5g.42711409G=CA1542305065GHRc.784+37G= (n.784+37G=)
c.718+37G= (n.718+37G=)
c.*396+37G= (n.*396+37G=)
c.805+37G= (n.805+37G=)
c.739+37G= (n.739+37G=)

Number of alleles fetched