Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.46898723G>ACA352496564PTH1Rc.700G>A (p.Ala234Thr)
n.720G>A
c.607G>A (p.Ala203Thr)
c.739G>A (p.Ala247Thr)
c.721G>A (p.Ala241Thr)
 gnomAD v4
3g.46898723G>CCA352496576PTH1Rc.700G>C (p.Ala234Pro)
n.720G>C
c.607G>C (p.Ala203Pro)
c.739G>C (p.Ala247Pro)
c.721G>C (p.Ala241Pro)
3g.46898723G>TCA352496569PTH1Rc.700G>T (p.Ala234Ser)
n.720G>T
c.607G>T (p.Ala203Ser)
c.739G>T (p.Ala247Ser)
c.721G>T (p.Ala241Ser)
3g.46898724C>ACA352496584PTH1Rc.701C>A (p.Ala234Asp)
n.721C>A
c.608C>A (p.Ala203Asp)
c.740C>A (p.Ala247Asp)
c.722C>A (p.Ala241Asp)
 gnomAD v4
3g.46898724C>GCA352496598PTH1Rc.701C>G (p.Ala234Gly)
n.721C>G
c.608C>G (p.Ala203Gly)
c.740C>G (p.Ala247Gly)
c.722C>G (p.Ala241Gly)
3g.46898724C>TCA352496602PTH1Rc.701C>T (p.Ala234Val)
n.721C>T
c.608C>T (p.Ala203Val)
c.740C>T (p.Ala247Val)
c.722C>T (p.Ala241Val)
3g.46898725C>ACA433471351PTH1Rc.702C>A (p.Ala234=)
n.722C>A
c.609C>A (p.Ala203=)
c.741C>A (p.Ala247=)
c.723C>A (p.Ala241=)
 gnomAD v4
3g.46898725C=CA1362310869PTH1Rc.702C= (p.Ala234=)
n.722C=
c.609C= (p.Ala203=)
c.741C= (p.Ala247=)
c.723C= (p.Ala241=)
3g.46898725C>GCA433471350PTH1Rc.702C>G (p.Ala234=)
n.722C>G
c.609C>G (p.Ala203=)
c.741C>G (p.Ala247=)
c.723C>G (p.Ala241=)
 dbSNP gnomAD v2 gnomAD v4
3g.46898725C>TCA433471347PTH1Rc.702C>T (p.Ala234=)
n.722C>T
c.609C>T (p.Ala203=)
c.741C>T (p.Ala247=)
c.723C>T (p.Ala241=)
 dbSNP gnomAD v3 gnomAD v4
3g.46898726G>ACA352496608PTH1Rc.703G>A (p.Val235Met)
n.723G>A
c.610G>A (p.Val204Met)
c.742G>A (p.Val248Met)
c.724G>A (p.Val242Met)
 dbSNP gnomAD v2 gnomAD v4
3g.46898726G>CCA73769878PTH1Rc.703G>C (p.Val235Leu)
n.723G>C
c.610G>C (p.Val204Leu)
c.742G>C (p.Val248Leu)
c.724G>C (p.Val242Leu)
 dbSNP gnomAD v4
3g.46898726G=CA1362310871PTH1Rc.703G= (p.Val235=)
n.723G=
c.610G= (p.Val204=)
c.742G= (p.Val248=)
c.724G= (p.Val242=)
3g.46898726G>TCA73769881PTH1Rc.703G>T (p.Val235Leu)
n.723G>T
c.610G>T (p.Val204Leu)
c.742G>T (p.Val248Leu)
c.724G>T (p.Val242Leu)
 dbSNP gnomAD v4
3g.46898727T>ACA352496636PTH1Rc.704T>A (p.Val235Glu)
n.724T>A
c.611T>A (p.Val204Glu)
c.743T>A (p.Val248Glu)
c.725T>A (p.Val242Glu)
3g.46898727T>CCA352496642PTH1Rc.704T>C (p.Val235Ala)
n.724T>C
c.611T>C (p.Val204Ala)
c.743T>C (p.Val248Ala)
c.725T>C (p.Val242Ala)
3g.46898727T>GCA352496646PTH1Rc.704T>G (p.Val235Gly)
n.724T>G
c.611T>G (p.Val204Gly)
c.743T>G (p.Val248Gly)
c.725T>G (p.Val242Gly)
3g.46898728G>ACA433471362PTH1Rc.705G>A (p.Val235=)
n.725G>A
c.612G>A (p.Val204=)
c.744G>A (p.Val248=)
c.726G>A (p.Val242=)
 dbSNP
3g.46898728G>CCA433471364PTH1Rc.705G>C (p.Val235=)
n.725G>C
c.612G>C (p.Val204=)
c.744G>C (p.Val248=)
c.726G>C (p.Val242=)
3g.46898728G=CA1362310873PTH1Rc.705G= (p.Val235=)
n.725G=
c.612G= (p.Val204=)
c.744G= (p.Val248=)
c.726G= (p.Val242=)
3g.46898728G>TCA433471366PTH1Rc.705G>T (p.Val235=)
n.725G>T
c.612G>T (p.Val204=)
c.744G>T (p.Val248=)
c.726G>T (p.Val242=)
 gnomAD v4
3g.46898729A>CCA352496651PTH1Rc.706A>C (p.Ser236Arg)
n.726A>C
c.613A>C (p.Ser205Arg)
c.745A>C (p.Ser249Arg)
c.727A>C (p.Ser243Arg)
3g.46898729A>GCA352496652PTH1Rc.706A>G (p.Ser236Gly)
n.726A>G
c.613A>G (p.Ser205Gly)
c.745A>G (p.Ser249Gly)
c.727A>G (p.Ser243Gly)
3g.46898729A>TCA352496653PTH1Rc.706A>T (p.Ser236Cys)
n.726A>T
c.613A>T (p.Ser205Cys)
c.745A>T (p.Ser249Cys)
c.727A>T (p.Ser243Cys)
3g.46898730G>ACA352496662PTH1Rc.707G>A (p.Ser236Asn)
n.727G>A
c.614G>A (p.Ser205Asn)
c.746G>A (p.Ser249Asn)
c.728G>A (p.Ser243Asn)
 gnomAD v4
3g.46898730G>CCA352496665PTH1Rc.707G>C (p.Ser236Thr)
n.727G>C
c.614G>C (p.Ser205Thr)
c.746G>C (p.Ser249Thr)
c.728G>C (p.Ser243Thr)
3g.46898730G>TCA352496658PTH1Rc.707G>T (p.Ser236Ile)
n.727G>T
c.614G>T (p.Ser205Ile)
c.746G>T (p.Ser249Ile)
c.728G>T (p.Ser243Ile)
 gnomAD v4
3g.46898731C>ACA352496676PTH1Rc.708C>A (p.Ser236Arg)
n.728C>A
c.615C>A (p.Ser205Arg)
c.747C>A (p.Ser249Arg)
c.729C>A (p.Ser243Arg)
 gnomAD v4
3g.46898731C>GCA352496670PTH1Rc.708C>G (p.Ser236Arg)
n.728C>G
c.615C>G (p.Ser205Arg)
c.747C>G (p.Ser249Arg)
c.729C>G (p.Ser243Arg)
3g.46898731C>TCA433471379PTH1Rc.708C>T (p.Ser236=)
n.728C>T
c.615C>T (p.Ser205=)
c.747C>T (p.Ser249=)
c.729C>T (p.Ser243=)
3g.46898732A>CCA352496688PTH1Rc.709A>C (p.Ile237Leu)
n.729A>C
c.616A>C (p.Ile206Leu)
c.748A>C (p.Ile250Leu)
c.730A>C (p.Ile244Leu)
3g.46898732A>GCA352496684PTH1Rc.709A>G (p.Ile237Val)
n.729A>G
c.616A>G (p.Ile206Val)
c.748A>G (p.Ile250Val)
c.730A>G (p.Ile244Val)
3g.46898732A>TCA352496686PTH1Rc.709A>T (p.Ile237Phe)
n.729A>T
c.616A>T (p.Ile206Phe)
c.748A>T (p.Ile250Phe)
c.730A>T (p.Ile244Phe)
3g.46898733T>ACA352496694PTH1Rc.710T>A (p.Ile237Asn)
n.730T>A
c.617T>A (p.Ile206Asn)
c.749T>A (p.Ile250Asn)
c.731T>A (p.Ile244Asn)
3g.46898733T>CCA352496699PTH1Rc.710T>C (p.Ile237Thr)
n.730T>C
c.617T>C (p.Ile206Thr)
c.749T>C (p.Ile250Thr)
c.731T>C (p.Ile244Thr)
3g.46898733T>GCA352496702PTH1Rc.710T>G (p.Ile237Ser)
n.730T>G
c.617T>G (p.Ile206Ser)
c.749T>G (p.Ile250Ser)
c.731T>G (p.Ile244Ser)
3g.46898734C>ACA433471390PTH1Rc.711C>A (p.Ile237=)
n.731C>A
c.618C>A (p.Ile206=)
c.750C>A (p.Ile250=)
c.732C>A (p.Ile244=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46898734C=CA1362310874PTH1Rc.711C= (p.Ile237=)
n.731C=
c.618C= (p.Ile206=)
c.750C= (p.Ile250=)
c.732C= (p.Ile244=)
3g.46898734C>GCA352496707PTH1Rc.711C>G (p.Ile237Met)
n.731C>G
c.618C>G (p.Ile206Met)
c.750C>G (p.Ile250Met)
c.732C>G (p.Ile244Met)
3g.46898734C>TCA2359298PTH1Rc.711C>T (p.Ile237=)
n.731C>T
c.618C>T (p.Ile206=)
c.750C>T (p.Ile250=)
c.732C>T (p.Ile244=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46898735T>ACA352496718PTH1Rc.712T>A (p.Phe238Ile)
c.619T>A (p.Phe207Ile)
c.751T>A (p.Phe251Ile)
c.733T>A (p.Phe245Ile)
 gnomAD v4
3g.46898735T>CCA352496722PTH1Rc.712T>C (p.Phe238Leu)
c.619T>C (p.Phe207Leu)
c.751T>C (p.Phe251Leu)
c.733T>C (p.Phe245Leu)
 gnomAD v4
3g.46898735T>GCA352496731PTH1Rc.712T>G (p.Phe238Val)
c.619T>G (p.Phe207Val)
c.751T>G (p.Phe251Val)
c.733T>G (p.Phe245Val)
 gnomAD v4
3g.46898736T>ACA352496739PTH1Rc.713T>A (p.Phe238Tyr)
c.620T>A (p.Phe207Tyr)
c.752T>A (p.Phe251Tyr)
c.734T>A (p.Phe245Tyr)
3g.46898736T>CCA352496738PTH1Rc.713T>C (p.Phe238Ser)
c.620T>C (p.Phe207Ser)
c.752T>C (p.Phe251Ser)
c.734T>C (p.Phe245Ser)
 gnomAD v4
3g.46898736T>GCA352496737PTH1Rc.713T>G (p.Phe238Cys)
c.620T>G (p.Phe207Cys)
c.752T>G (p.Phe251Cys)
c.734T>G (p.Phe245Cys)
3g.46898737C>ACA352496742PTH1Rc.714C>A (p.Phe238Leu)
c.621C>A (p.Phe207Leu)
c.753C>A (p.Phe251Leu)
c.735C>A (p.Phe245Leu)
 gnomAD v4
3g.46898737C>GCA352496745PTH1Rc.714C>G (p.Phe238Leu)
c.621C>G (p.Phe207Leu)
c.753C>G (p.Phe251Leu)
c.735C>G (p.Phe245Leu)
 gnomAD v4 COSMIC
3g.46898737C>TCA433471405PTH1Rc.714C>T (p.Phe238=)
c.621C>T (p.Phe207=)
c.753C>T (p.Phe251=)
c.735C>T (p.Phe245=)
 gnomAD v4
3g.46898738G>ACA352496750PTH1Rc.715G>A (p.Val239Ile)
c.622G>A (p.Val208Ile)
c.754G>A (p.Val252Ile)
c.736G>A (p.Val246Ile)
 dbSNP gnomAD v2 gnomAD v4
3g.46898738G>CCA352496755PTH1Rc.715G>C (p.Val239Leu)
c.622G>C (p.Val208Leu)
c.754G>C (p.Val252Leu)
c.736G>C (p.Val246Leu)
3g.46898738G=CA1362310876PTH1Rc.715G= (p.Val239=)
c.622G= (p.Val208=)
c.754G= (p.Val252=)
c.736G= (p.Val246=)
3g.46898738G>TCA352496757PTH1Rc.715G>T (p.Val239Phe)
c.622G>T (p.Val208Phe)
c.754G>T (p.Val252Phe)
c.736G>T (p.Val246Phe)
 gnomAD v4
3g.46898739T>ACA352496761PTH1Rc.716T>A (p.Val239Asp)
c.623T>A (p.Val208Asp)
c.755T>A (p.Val252Asp)
c.737T>A (p.Val246Asp)
3g.46898739T>CCA352496766PTH1Rc.716T>C (p.Val239Ala)
c.623T>C (p.Val208Ala)
c.755T>C (p.Val252Ala)
c.737T>C (p.Val246Ala)
3g.46898739T>GCA352496772PTH1Rc.716T>G (p.Val239Gly)
c.623T>G (p.Val208Gly)
c.755T>G (p.Val252Gly)
c.737T>G (p.Val246Gly)
3g.46898740C>ACA433471415PTH1Rc.717C>A (p.Val239=)
c.624C>A (p.Val208=)
c.756C>A (p.Val252=)
c.738C>A (p.Val246=)
 gnomAD v4
3g.46898740C=CA1362310879PTH1Rc.717C= (p.Val239=)
c.624C= (p.Val208=)
c.756C= (p.Val252=)
c.738C= (p.Val246=)
3g.46898740C>GCA433471416PTH1Rc.717C>G (p.Val239=)
c.624C>G (p.Val208=)
c.756C>G (p.Val252=)
c.738C>G (p.Val246=)
3g.46898740C>TCA2359299PTH1Rc.717C>T (p.Val239=)
c.624C>T (p.Val208=)
c.756C>T (p.Val252=)
c.738C>T (p.Val246=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46898741A>CCA352496780PTH1Rc.718A>C (p.Lys240Gln)
c.625A>C (p.Lys209Gln)
c.757A>C (p.Lys253Gln)
c.739A>C (p.Lys247Gln)
 gnomAD v4
3g.46898741A>GCA352496781PTH1Rc.718A>G (p.Lys240Glu)
c.625A>G (p.Lys209Glu)
c.757A>G (p.Lys253Glu)
c.739A>G (p.Lys247Glu)
3g.46898741A>TCA352496782PTH1Rc.718A>T (p.Lys240Ter)
c.625A>T (p.Lys209Ter)
c.757A>T (p.Lys253Ter)
c.739A>T (p.Lys247Ter)
3g.46898742A=CA1362310882PTH1Rc.719A= (p.Lys240=)
c.626A= (p.Lys209=)
c.758A= (p.Lys253=)
c.740A= (p.Lys247=)
3g.46898742A>CCA352496784PTH1Rc.719A>C (p.Lys240Thr)
c.626A>C (p.Lys209Thr)
c.758A>C (p.Lys253Thr)
c.740A>C (p.Lys247Thr)
3g.46898742A>GCA352496786PTH1Rc.719A>G (p.Lys240Arg)
c.626A>G (p.Lys209Arg)
c.758A>G (p.Lys253Arg)
c.740A>G (p.Lys247Arg)
 dbSNP gnomAD v3 gnomAD v4
3g.46898742A>TCA352496783PTH1Rc.719A>T (p.Lys240Met)
c.626A>T (p.Lys209Met)
c.758A>T (p.Lys253Met)
c.740A>T (p.Lys247Met)
3g.46898743G>ACA433471426PTH1Rc.720G>A (p.Lys240=)
c.627G>A (p.Lys209=)
c.759G>A (p.Lys253=)
c.741G>A (p.Lys247=)
 dbSNP gnomAD v2 gnomAD v4
3g.46898743G>CCA352496790PTH1Rc.720G>C (p.Lys240Asn)
c.627G>C (p.Lys209Asn)
c.759G>C (p.Lys253Asn)
c.741G>C (p.Lys247Asn)
3g.46898743G=CA1362310884PTH1Rc.720G= (p.Lys240=)
c.627G= (p.Lys209=)
c.759G= (p.Lys253=)
c.741G= (p.Lys247=)
3g.46898743G>TCA352496792PTH1Rc.720G>T (p.Lys240Asn)
c.627G>T (p.Lys209Asn)
c.759G>T (p.Lys253Asn)
c.741G>T (p.Lys247Asn)
 gnomAD v4
3g.46898744G>ACA352496804PTH1Rc.721G>A (p.Asp241Asn)
c.628G>A (p.Asp210Asn)
c.760G>A (p.Asp254Asn)
c.742G>A (p.Asp248Asn)
 dbSNP
3g.46898744G>CCA352496807PTH1Rc.721G>C (p.Asp241His)
c.628G>C (p.Asp210His)
c.760G>C (p.Asp254His)
c.742G>C (p.Asp248His)
3g.46898744G=CA1362310886PTH1Rc.721G= (p.Asp241=)
c.628G= (p.Asp210=)
c.760G= (p.Asp254=)
c.742G= (p.Asp248=)
3g.46898744G>TCA352496812PTH1Rc.721G>T (p.Asp241Tyr)
c.628G>T (p.Asp210Tyr)
c.760G>T (p.Asp254Tyr)
c.742G>T (p.Asp248Tyr)
3g.46898745A>CCA352496830PTH1Rc.722A>C (p.Asp241Ala)
c.629A>C (p.Asp210Ala)
c.761A>C (p.Asp254Ala)
c.743A>C (p.Asp248Ala)
3g.46898745A>GCA352496839PTH1Rc.722A>G (p.Asp241Gly)
c.629A>G (p.Asp210Gly)
c.761A>G (p.Asp254Gly)
c.743A>G (p.Asp248Gly)
3g.46898745A>TCA352496841PTH1Rc.722A>T (p.Asp241Val)
c.629A>T (p.Asp210Val)
c.761A>T (p.Asp254Val)
c.743A>T (p.Asp248Val)
3g.46898746C>ACA352496852PTH1Rc.723C>A (p.Asp241Glu)
c.630C>A (p.Asp210Glu)
c.762C>A (p.Asp254Glu)
c.744C>A (p.Asp248Glu)
3g.46898746C>GCA352496853PTH1Rc.723C>G (p.Asp241Glu)
c.630C>G (p.Asp210Glu)
c.762C>G (p.Asp254Glu)
c.744C>G (p.Asp248Glu)
 ClinVar dbSNP
3g.46898746C>TCA433471441PTH1Rc.723C>T (p.Asp241=)
c.630C>T (p.Asp210=)
c.762C>T (p.Asp254=)
c.744C>T (p.Asp248=)
 gnomAD v4
3g.46898747G>ACA352496859PTH1Rc.724G>A (p.Ala242Thr)
c.631G>A (p.Ala211Thr)
c.763G>A (p.Ala255Thr)
c.745G>A (p.Ala249Thr)
 gnomAD v4
3g.46898747G>CCA352496867PTH1Rc.724G>C (p.Ala242Pro)
c.631G>C (p.Ala211Pro)
c.763G>C (p.Ala255Pro)
c.745G>C (p.Ala249Pro)
3g.46898747G>TCA352496869PTH1Rc.724G>T (p.Ala242Ser)
c.631G>T (p.Ala211Ser)
c.763G>T (p.Ala255Ser)
c.745G>T (p.Ala249Ser)
 gnomAD v4
3g.46898748C>ACA2359300PTH1Rc.725C>A (p.Ala242Asp)
c.632C>A (p.Ala211Asp)
c.764C>A (p.Ala255Asp)
c.746C>A (p.Ala249Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46898748C=CA1362310889PTH1Rc.725C= (p.Ala242=)
c.632C= (p.Ala211=)
c.764C= (p.Ala255=)
c.746C= (p.Ala249=)
3g.46898748C>GCA352496883PTH1Rc.725C>G (p.Ala242Gly)
c.632C>G (p.Ala211Gly)
c.764C>G (p.Ala255Gly)
c.746C>G (p.Ala249Gly)
3g.46898748C>TCA352496882PTH1Rc.725C>T (p.Ala242Val)
c.632C>T (p.Ala211Val)
c.764C>T (p.Ala255Val)
c.746C>T (p.Ala249Val)
 COSMIC
3g.46898749T>ACA433471451PTH1Rc.726T>A (p.Ala242=)
c.633T>A (p.Ala211=)
c.765T>A (p.Ala255=)
c.747T>A (p.Ala249=)
3g.46898749T>CCA433471452PTH1Rc.726T>C (p.Ala242=)
c.633T>C (p.Ala211=)
c.765T>C (p.Ala255=)
c.747T>C (p.Ala249=)
3g.46898749T>GCA433471454PTH1Rc.726T>G (p.Ala242=)
c.633T>G (p.Ala211=)
c.765T>G (p.Ala255=)
c.747T>G (p.Ala249=)
 dbSNP
3g.46898750G>ACA352496888PTH1Rc.727G>A (p.Val243Met)
c.634G>A (p.Val212Met)
c.766G>A (p.Val256Met)
c.748G>A (p.Val250Met)
 dbSNP gnomAD v2 gnomAD v4
3g.46898750G>CCA352496893PTH1Rc.727G>C (p.Val243Leu)
c.634G>C (p.Val212Leu)
c.766G>C (p.Val256Leu)
c.748G>C (p.Val250Leu)
3g.46898750G=CA1362310893PTH1Rc.727G= (p.Val243=)
c.634G= (p.Val212=)
c.766G= (p.Val256=)
c.748G= (p.Val250=)
3g.46898750G>TCA352496895PTH1Rc.727G>T (p.Val243Leu)
c.634G>T (p.Val212Leu)
c.766G>T (p.Val256Leu)
c.748G>T (p.Val250Leu)
 gnomAD v4
3g.46898751T>ACA352496899PTH1Rc.728T>A (p.Val243Glu)
c.635T>A (p.Val212Glu)
c.767T>A (p.Val256Glu)
c.749T>A (p.Val250Glu)
3g.46898751T>CCA352496902PTH1Rc.728T>C (p.Val243Ala)
c.635T>C (p.Val212Ala)
c.767T>C (p.Val256Ala)
c.749T>C (p.Val250Ala)
3g.46898751T>GCA352496905PTH1Rc.728T>G (p.Val243Gly)
c.635T>G (p.Val212Gly)
c.767T>G (p.Val256Gly)
c.749T>G (p.Val250Gly)
3g.46898752G>ACA433471464PTH1Rc.729G>A (p.Val243=)
c.636G>A (p.Val212=)
c.768G>A (p.Val256=)
c.750G>A (p.Val250=)
3g.46898752G>CCA433471466PTH1Rc.729G>C (p.Val243=)
c.636G>C (p.Val212=)
c.768G>C (p.Val256=)
c.750G>C (p.Val250=)
3g.46898752G>TCA433471468PTH1Rc.729G>T (p.Val243=)
c.636G>T (p.Val212=)
c.768G>T (p.Val256=)
c.750G>T (p.Val250=)
3g.46898753C>ACA352496909PTH1Rc.730C>A (p.Leu244Ile)
c.637C>A (p.Leu213Ile)
c.769C>A (p.Leu257Ile)
c.751C>A (p.Leu251Ile)
 gnomAD v4
3g.46898753C>GCA352496913PTH1Rc.730C>G (p.Leu244Val)
c.637C>G (p.Leu213Val)
c.769C>G (p.Leu257Val)
c.751C>G (p.Leu251Val)
3g.46898753C>TCA352496916PTH1Rc.730C>T (p.Leu244Phe)
c.637C>T (p.Leu213Phe)
c.769C>T (p.Leu257Phe)
c.751C>T (p.Leu251Phe)
3g.46898754T>ACA352496935PTH1Rc.731T>A (p.Leu244His)
c.638T>A (p.Leu213His)
c.770T>A (p.Leu257His)
c.752T>A (p.Leu251His)
3g.46898754T>CCA352496938PTH1Rc.731T>C (p.Leu244Pro)
c.638T>C (p.Leu213Pro)
c.770T>C (p.Leu257Pro)
c.752T>C (p.Leu251Pro)
3g.46898754T>GCA352496940PTH1Rc.731T>G (p.Leu244Arg)
c.638T>G (p.Leu213Arg)
c.770T>G (p.Leu257Arg)
c.752T>G (p.Leu251Arg)
3g.46898755C>ACA433471478PTH1Rc.732C>A (p.Leu244=)
c.639C>A (p.Leu213=)
c.771C>A (p.Leu257=)
c.753C>A (p.Leu251=)
3g.46898755C=CA1362310895PTH1Rc.732C= (p.Leu244=)
c.639C= (p.Leu213=)
c.771C= (p.Leu257=)
c.753C= (p.Leu251=)
3g.46898755C>GCA2359301PTH1Rc.732C>G (p.Leu244=)
c.639C>G (p.Leu213=)
c.771C>G (p.Leu257=)
c.753C>G (p.Leu251=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46898755C>TCA433471481PTH1Rc.732C>T (p.Leu244=)
c.639C>T (p.Leu213=)
c.771C>T (p.Leu257=)
c.753C>T (p.Leu251=)
3g.46898756T>ACA352496949PTH1Rc.733T>A (p.Tyr245Asn)
c.640T>A (p.Tyr214Asn)
c.772T>A (p.Tyr258Asn)
c.754T>A (p.Tyr252Asn)
3g.46898756T>CCA352496953PTH1Rc.733T>C (p.Tyr245His)
c.640T>C (p.Tyr214His)
c.772T>C (p.Tyr258His)
c.754T>C (p.Tyr252His)
3g.46898756T>GCA352496947PTH1Rc.733T>G (p.Tyr245Asp)
c.640T>G (p.Tyr214Asp)
c.772T>G (p.Tyr258Asp)
c.754T>G (p.Tyr252Asp)
3g.46898757A>CCA352496973PTH1Rc.734A>C (p.Tyr245Ser)
c.641A>C (p.Tyr214Ser)
c.773A>C (p.Tyr258Ser)
c.755A>C (p.Tyr252Ser)
3g.46898757A>GCA352496961PTH1Rc.734A>G (p.Tyr245Cys)
c.641A>G (p.Tyr214Cys)
c.773A>G (p.Tyr258Cys)
c.755A>G (p.Tyr252Cys)
3g.46898757A>TCA352496968PTH1Rc.734A>T (p.Tyr245Phe)
c.641A>T (p.Tyr214Phe)
c.773A>T (p.Tyr258Phe)
c.755A>T (p.Tyr252Phe)
3g.46898758C>ACA352496975PTH1Rc.735C>A (p.Tyr245Ter)
c.642C>A (p.Tyr214Ter)
c.774C>A (p.Tyr258Ter)
c.756C>A (p.Tyr252Ter)
3g.46898758C>GCA352496977PTH1Rc.735C>G (p.Tyr245Ter)
c.642C>G (p.Tyr214Ter)
c.774C>G (p.Tyr258Ter)
c.756C>G (p.Tyr252Ter)
3g.46898758C>TCA433471490PTH1Rc.735C>T (p.Tyr245=)
c.642C>T (p.Tyr214=)
c.774C>T (p.Tyr258=)
c.756C>T (p.Tyr252=)
 gnomAD v4 COSMIC
3g.46898759T>ACA352496979PTH1Rc.736T>A (p.Ser246Thr)
c.643T>A (p.Ser215Thr)
c.775T>A (p.Ser259Thr)
c.757T>A (p.Ser253Thr)
3g.46898759T>CCA352496981PTH1Rc.736T>C (p.Ser246Pro)
c.643T>C (p.Ser215Pro)
c.775T>C (p.Ser259Pro)
c.757T>C (p.Ser253Pro)
 dbSNP gnomAD v2 gnomAD v4
3g.46898759T>GCA352496983PTH1Rc.736T>G (p.Ser246Ala)
c.643T>G (p.Ser215Ala)
c.775T>G (p.Ser259Ala)
c.757T>G (p.Ser253Ala)
3g.46898759T=CA1362310898PTH1Rc.736T= (p.Ser246=)
c.643T= (p.Ser215=)
c.775T= (p.Ser259=)
c.757T= (p.Ser253=)
3g.46898760C>ACA352496986PTH1Rc.737C>A (p.Ser246Tyr)
c.644C>A (p.Ser215Tyr)
c.776C>A (p.Ser259Tyr)
c.758C>A (p.Ser253Tyr)
 gnomAD v4
3g.46898760C=CA1362310901PTH1Rc.737C= (p.Ser246=)
c.644C= (p.Ser215=)
c.776C= (p.Ser259=)
c.758C= (p.Ser253=)
3g.46898760C>GCA352496991PTH1Rc.737C>G (p.Ser246Cys)
c.644C>G (p.Ser215Cys)
c.776C>G (p.Ser259Cys)
c.758C>G (p.Ser253Cys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.46898760C>TCA352496993PTH1Rc.737C>T (p.Ser246Phe)
c.644C>T (p.Ser215Phe)
c.776C>T (p.Ser259Phe)
c.758C>T (p.Ser253Phe)
3g.46898761T>ACA433471500PTH1Rc.738T>A (p.Ser246=)
c.645T>A (p.Ser215=)
c.777T>A (p.Ser259=)
c.759T>A (p.Ser253=)
3g.46898761T>CCA433471502PTH1Rc.738T>C (p.Ser246=)
c.645T>C (p.Ser215=)
c.777T>C (p.Ser259=)
c.759T>C (p.Ser253=)
 gnomAD v4
3g.46898761T>GCA433471504PTH1Rc.738T>G (p.Ser246=)
c.645T>G (p.Ser215=)
c.777T>G (p.Ser259=)
c.759T>G (p.Ser253=)
3g.46898762G>ACA352496997PTH1Rc.739G>A (p.Gly247Ser)
c.646G>A (p.Gly216Ser)
c.778G>A (p.Gly260Ser)
c.760G>A (p.Gly254Ser)
3g.46898762G>CCA352497002PTH1Rc.739G>C (p.Gly247Arg)
c.646G>C (p.Gly216Arg)
c.778G>C (p.Gly260Arg)
c.760G>C (p.Gly254Arg)
 gnomAD v4
3g.46898762G>TCA352497009PTH1Rc.739G>T (p.Gly247Cys)
c.646G>T (p.Gly216Cys)
c.778G>T (p.Gly260Cys)
c.760G>T (p.Gly254Cys)
 gnomAD v4
3g.46898763G>ACA352497028PTH1Rc.740G>A (p.Gly247Asp)
c.647G>A (p.Gly216Asp)
c.779G>A (p.Gly260Asp)
c.761G>A (p.Gly254Asp)
3g.46898763G>CCA352497020PTH1Rc.740G>C (p.Gly247Ala)
c.647G>C (p.Gly216Ala)
c.779G>C (p.Gly260Ala)
c.761G>C (p.Gly254Ala)
3g.46898763G>TCA352497024PTH1Rc.740G>T (p.Gly247Val)
c.647G>T (p.Gly216Val)
c.779G>T (p.Gly260Val)
c.761G>T (p.Gly254Val)
 gnomAD v4
3g.46898764C>ACA433471515PTH1Rc.741C>A (p.Gly247=)
c.648C>A (p.Gly216=)
c.780C>A (p.Gly260=)
c.762C>A (p.Gly254=)
 dbSNP gnomAD v2 gnomAD v4
3g.46898764C=CA1362310906PTH1Rc.741C= (p.Gly247=)
c.648C= (p.Gly216=)
c.780C= (p.Gly260=)
c.762C= (p.Gly254=)
3g.46898764C>GCA433471517PTH1Rc.741C>G (p.Gly247=)
c.648C>G (p.Gly216=)
c.780C>G (p.Gly260=)
c.762C>G (p.Gly254=)
3g.46898764C>TCA433471518PTH1Rc.741C>T (p.Gly247=)
c.648C>T (p.Gly216=)
c.780C>T (p.Gly260=)
c.762C>T (p.Gly254=)
 gnomAD v4
3g.46898765G>ACA352497034PTH1Rc.742G>A (p.Ala248Thr)
c.649G>A (p.Ala217Thr)
c.781G>A (p.Ala261Thr)
c.763G>A (p.Ala255Thr)
 dbSNP gnomAD v2 gnomAD v4
3g.46898765G>CCA352497037PTH1Rc.742G>C (p.Ala248Pro)
c.649G>C (p.Ala217Pro)
c.781G>C (p.Ala261Pro)
c.763G>C (p.Ala255Pro)
 gnomAD v4
3g.46898765G=CA1362310908PTH1Rc.742G= (p.Ala248=)
c.649G= (p.Ala217=)
c.781G= (p.Ala261=)
c.763G= (p.Ala255=)
3g.46898765G>TCA2359302PTH1Rc.742G>T (p.Ala248Ser)
c.649G>T (p.Ala217Ser)
c.781G>T (p.Ala261Ser)
c.763G>T (p.Ala255Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.46898766C>ACA352497040PTH1Rc.743C>A (p.Ala248Asp)
c.650C>A (p.Ala217Asp)
c.782C>A (p.Ala261Asp)
c.764C>A (p.Ala255Asp)
 gnomAD v4
3g.46898766C>GCA352497042PTH1Rc.743C>G (p.Ala248Gly)
c.650C>G (p.Ala217Gly)
c.782C>G (p.Ala261Gly)
c.764C>G (p.Ala255Gly)
3g.46898766C>TCA352497045PTH1Rc.743C>T (p.Ala248Val)
c.650C>T (p.Ala217Val)
c.782C>T (p.Ala261Val)
c.764C>T (p.Ala255Val)
 gnomAD v4
3g.46898767C>ACA433471527PTH1Rc.744C>A (p.Ala248=)
c.651C>A (p.Ala217=)
c.783C>A (p.Ala261=)
c.765C>A (p.Ala255=)
 gnomAD v4
3g.46898767C>GCA433471528PTH1Rc.744C>G (p.Ala248=)
c.651C>G (p.Ala217=)
c.783C>G (p.Ala261=)
c.765C>G (p.Ala255=)
3g.46898767C>TCA433471529PTH1Rc.744C>T (p.Ala248=)
c.651C>T (p.Ala217=)
c.783C>T (p.Ala261=)
c.765C>T (p.Ala255=)
3g.46898768A>CCA352497049PTH1Rc.745A>C (p.Thr249Pro)
c.652A>C (p.Thr218Pro)
c.784A>C (p.Thr262Pro)
c.766A>C (p.Thr256Pro)
3g.46898768A>GCA352497050PTH1Rc.745A>G (p.Thr249Ala)
c.652A>G (p.Thr218Ala)
c.784A>G (p.Thr262Ala)
c.766A>G (p.Thr256Ala)
3g.46898768A>TCA352497051PTH1Rc.745A>T (p.Thr249Ser)
c.652A>T (p.Thr218Ser)
c.784A>T (p.Thr262Ser)
c.766A>T (p.Thr256Ser)
3g.46898769C>ACA352497055PTH1Rc.746C>A (p.Thr249Lys)
c.653C>A (p.Thr218Lys)
c.785C>A (p.Thr262Lys)
c.767C>A (p.Thr256Lys)
 gnomAD v4
3g.46898769C=CA1362310911PTH1Rc.746C= (p.Thr249=)
c.653C= (p.Thr218=)
c.785C= (p.Thr262=)
c.767C= (p.Thr256=)
3g.46898769C>GCA352497058PTH1Rc.746C>G (p.Thr249Arg)
c.653C>G (p.Thr218Arg)
c.785C>G (p.Thr262Arg)
c.767C>G (p.Thr256Arg)
3g.46898769C>TCA2359303PTH1Rc.746C>T (p.Thr249Met)
c.653C>T (p.Thr218Met)
c.785C>T (p.Thr262Met)
c.767C>T (p.Thr256Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46898770G>ACA2359304PTH1Rc.747G>A (p.Thr249=)
c.654G>A (p.Thr218=)
c.786G>A (p.Thr262=)
c.768G>A (p.Thr256=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.46898770G>CCA2359305PTH1Rc.747G>C (p.Thr249=)
c.654G>C (p.Thr218=)
c.786G>C (p.Thr262=)
c.768G>C (p.Thr256=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46898770G=CA1362310914PTH1Rc.747G= (p.Thr249=)
c.654G= (p.Thr218=)
c.786G= (p.Thr262=)
c.768G= (p.Thr256=)
3g.46898770G>TCA433471539PTH1Rc.747G>T (p.Thr249=)
c.654G>T (p.Thr218=)
c.786G>T (p.Thr262=)
c.768G>T (p.Thr256=)
 gnomAD v4
3g.46898771C>ACA352497063PTH1Rc.748C>A (p.Leu250Ile)
c.655C>A (p.Leu219Ile)
c.787C>A (p.Leu263Ile)
c.769C>A (p.Leu257Ile)
 gnomAD v4
3g.46898771C>GCA352497072PTH1Rc.748C>G (p.Leu250Val)
c.655C>G (p.Leu219Val)
c.787C>G (p.Leu263Val)
c.769C>G (p.Leu257Val)
3g.46898771C>TCA352497068PTH1Rc.748C>T (p.Leu250Phe)
c.655C>T (p.Leu219Phe)
c.787C>T (p.Leu263Phe)
c.769C>T (p.Leu257Phe)
3g.46898772T>ACA352497075PTH1Rc.749T>A (p.Leu250His)
c.656T>A (p.Leu219His)
c.788T>A (p.Leu263His)
c.770T>A (p.Leu257His)
3g.46898772T>CCA2359306PTH1Rc.749T>C (p.Leu250Pro)
c.656T>C (p.Leu219Pro)
c.788T>C (p.Leu263Pro)
c.770T>C (p.Leu257Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46898772T>GCA352497081PTH1Rc.749T>G (p.Leu250Arg)
c.656T>G (p.Leu219Arg)
c.788T>G (p.Leu263Arg)
c.770T>G (p.Leu257Arg)
3g.46898772T=CA1362310917PTH1Rc.749T= (p.Leu250=)
c.656T= (p.Leu219=)
c.788T= (p.Leu263=)
c.770T= (p.Leu257=)
3g.46898773T>ACA433471550PTH1Rc.750T>A (p.Leu250=)
c.657T>A (p.Leu219=)
c.789T>A (p.Leu263=)
c.771T>A (p.Leu257=)
3g.46898773T>CCA433471552PTH1Rc.750T>C (p.Leu250=)
c.657T>C (p.Leu219=)
c.789T>C (p.Leu263=)
c.771T>C (p.Leu257=)
 gnomAD v4
3g.46898773T>GCA433471548PTH1Rc.750T>G (p.Leu250=)
c.657T>G (p.Leu219=)
c.789T>G (p.Leu263=)
c.771T>G (p.Leu257=)
3g.46898774G>ACA352497087PTH1Rc.751G>A (p.Asp251Asn)
c.658G>A (p.Asp220Asn)
c.790G>A (p.Asp264Asn)
c.772G>A (p.Asp258Asn)
3g.46898774G>CCA352497090PTH1Rc.751G>C (p.Asp251His)
c.658G>C (p.Asp220His)
c.790G>C (p.Asp264His)
c.772G>C (p.Asp258His)
3g.46898774G>TCA352497092PTH1Rc.751G>T (p.Asp251Tyr)
c.658G>T (p.Asp220Tyr)
c.790G>T (p.Asp264Tyr)
c.772G>T (p.Asp258Tyr)
 gnomAD v4
3g.46898775A>CCA352497094PTH1Rc.752A>C (p.Asp251Ala)
c.659A>C (p.Asp220Ala)
c.791A>C (p.Asp264Ala)
c.773A>C (p.Asp258Ala)
3g.46898775A>GCA352497097PTH1Rc.752A>G (p.Asp251Gly)
c.659A>G (p.Asp220Gly)
c.791A>G (p.Asp264Gly)
c.773A>G (p.Asp258Gly)
 gnomAD v4
3g.46898775A>TCA352497099PTH1Rc.752A>T (p.Asp251Val)
c.659A>T (p.Asp220Val)
c.791A>T (p.Asp264Val)
c.773A>T (p.Asp258Val)
3g.46898776T>ACA352497102PTH1Rc.753T>A (p.Asp251Glu)
c.660T>A (p.Asp220Glu)
c.792T>A (p.Asp264Glu)
c.774T>A (p.Asp258Glu)
3g.46898776T>CCA433471562PTH1Rc.753T>C (p.Asp251=)
c.660T>C (p.Asp220=)
c.792T>C (p.Asp264=)
c.774T>C (p.Asp258=)
 dbSNP gnomAD v3 gnomAD v4
3g.46898776T>GCA352497104PTH1Rc.753T>G (p.Asp251Glu)
c.660T>G (p.Asp220Glu)
c.792T>G (p.Asp264Glu)
c.774T>G (p.Asp258Glu)
3g.46898776T=CA1362310919PTH1Rc.753T= (p.Asp251=)
c.660T= (p.Asp220=)
c.792T= (p.Asp264=)
c.774T= (p.Asp258=)
3g.46898777G>ACA2359307PTH1Rc.754G>A (p.Glu252Lys)
c.661G>A (p.Glu221Lys)
c.793G>A (p.Glu265Lys)
c.775G>A (p.Glu259Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46898777G>CCA352497109PTH1Rc.754G>C (p.Glu252Gln)
c.661G>C (p.Glu221Gln)
c.793G>C (p.Glu265Gln)
c.775G>C (p.Glu259Gln)
3g.46898777G=CA1362310921PTH1Rc.754G= (p.Glu252=)
c.661G= (p.Glu221=)
c.793G= (p.Glu265=)
c.775G= (p.Glu259=)
3g.46898777G>TCA352497107PTH1Rc.754G>T (p.Glu252Ter)
c.661G>T (p.Glu221Ter)
c.793G>T (p.Glu265Ter)
c.775G>T (p.Glu259Ter)
 gnomAD v4
3g.46898778A>CCA352497117PTH1Rc.755A>C (p.Glu252Ala)
c.662A>C (p.Glu221Ala)
c.794A>C (p.Glu265Ala)
c.776A>C (p.Glu259Ala)
3g.46898778A>GCA352497127PTH1Rc.755A>G (p.Glu252Gly)
c.662A>G (p.Glu221Gly)
c.794A>G (p.Glu265Gly)
c.776A>G (p.Glu259Gly)
3g.46898778A>TCA352497132PTH1Rc.755A>T (p.Glu252Val)
c.662A>T (p.Glu221Val)
c.794A>T (p.Glu265Val)
c.776A>T (p.Glu259Val)
3g.46898779G>ACA433471574PTH1Rc.756G>A (p.Glu252=)
c.663G>A (p.Glu221=)
c.795G>A (p.Glu265=)
c.777G>A (p.Glu259=)
3g.46898779G>CCA352497137PTH1Rc.756G>C (p.Glu252Asp)
c.663G>C (p.Glu221Asp)
c.795G>C (p.Glu265Asp)
c.777G>C (p.Glu259Asp)
3g.46898779G>TCA352497139PTH1Rc.756G>T (p.Glu252Asp)
c.663G>T (p.Glu221Asp)
c.795G>T (p.Glu265Asp)
c.777G>T (p.Glu259Asp)
 gnomAD v4
3g.46898780G>ACA352497151PTH1Rc.757G>A (p.Ala253Thr)
c.664G>A (p.Ala222Thr)
c.796G>A (p.Ala266Thr)
c.778G>A (p.Ala260Thr)
 dbSNP gnomAD v2
3g.46898780G>CCA352497154PTH1Rc.757G>C (p.Ala253Pro)
c.664G>C (p.Ala222Pro)
c.796G>C (p.Ala266Pro)
c.778G>C (p.Ala260Pro)
3g.46898780G=CA1362310923PTH1Rc.757G= (p.Ala253=)
c.664G= (p.Ala222=)
c.796G= (p.Ala266=)
c.778G= (p.Ala260=)
3g.46898780G>TCA352497155PTH1Rc.757G>T (p.Ala253Ser)
c.664G>T (p.Ala222Ser)
c.796G>T (p.Ala266Ser)
c.778G>T (p.Ala260Ser)
3g.46898781C>ACA352497156PTH1Rc.758C>A (p.Ala253Asp)
c.665C>A (p.Ala222Asp)
c.797C>A (p.Ala266Asp)
c.779C>A (p.Ala260Asp)
 gnomAD v4
3g.46898781C>GCA352497157PTH1Rc.758C>G (p.Ala253Gly)
c.665C>G (p.Ala222Gly)
c.797C>G (p.Ala266Gly)
c.779C>G (p.Ala260Gly)
3g.46898781C>TCA352497158PTH1Rc.758C>T (p.Ala253Val)
c.665C>T (p.Ala222Val)
c.797C>T (p.Ala266Val)
c.779C>T (p.Ala260Val)
3g.46898782T>ACA433471585PTH1Rc.759T>A (p.Ala253=)
c.666T>A (p.Ala222=)
c.798T>A (p.Ala266=)
c.780T>A (p.Ala260=)
3g.46898782T>CCA433471587PTH1Rc.759T>C (p.Ala253=)
c.666T>C (p.Ala222=)
c.798T>C (p.Ala266=)
c.780T>C (p.Ala260=)
3g.46898782T>GCA433471589PTH1Rc.759T>G (p.Ala253=)
c.666T>G (p.Ala222=)
c.798T>G (p.Ala266=)
c.780T>G (p.Ala260=)
3g.46898783G>ACA352497161PTH1Rc.760G>A (p.Glu254Lys)
c.667G>A (p.Glu223Lys)
c.799G>A (p.Glu267Lys)
c.781G>A (p.Glu261Lys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.46898783G>CCA352497163PTH1Rc.760G>C (p.Glu254Gln)
c.667G>C (p.Glu223Gln)
c.799G>C (p.Glu267Gln)
c.781G>C (p.Glu261Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.46898783G=CA1362310925PTH1Rc.760G= (p.Glu254=)
c.667G= (p.Glu223=)
c.799G= (p.Glu267=)
c.781G= (p.Glu261=)
3g.46898783G>TCA352497176PTH1Rc.760G>T (p.Glu254Ter)
c.667G>T (p.Glu223Ter)
c.799G>T (p.Glu267Ter)
c.781G>T (p.Glu261Ter)
 gnomAD v4
3g.46898784A>CCA352497189PTH1Rc.761A>C (p.Glu254Ala)
c.668A>C (p.Glu223Ala)
c.800A>C (p.Glu267Ala)
c.782A>C (p.Glu261Ala)
3g.46898784A>GCA352497186PTH1Rc.761A>G (p.Glu254Gly)
c.668A>G (p.Glu223Gly)
c.800A>G (p.Glu267Gly)
c.782A>G (p.Glu261Gly)
3g.46898784A>TCA352497183PTH1Rc.761A>T (p.Glu254Val)
c.668A>T (p.Glu223Val)
c.800A>T (p.Glu267Val)
c.782A>T (p.Glu261Val)
3g.46898785G>ACA433471599PTH1Rc.762G>A (p.Glu254=)
c.669G>A (p.Glu223=)
c.801G>A (p.Glu267=)
c.783G>A (p.Glu261=)
3g.46898785G>CCA352497206PTH1Rc.762G>C (p.Glu254Asp)
c.669G>C (p.Glu223Asp)
c.801G>C (p.Glu267Asp)
c.783G>C (p.Glu261Asp)
3g.46898785G>TCA352497202PTH1Rc.762G>T (p.Glu254Asp)
c.669G>T (p.Glu223Asp)
c.801G>T (p.Glu267Asp)
c.783G>T (p.Glu261Asp)
 gnomAD v4
3g.46898786C>ACA352497207PTH1Rc.763C>A (p.Arg255Ser)
c.670C>A (p.Arg224Ser)
c.802C>A (p.Arg268Ser)
c.784C>A (p.Arg262Ser)
 dbSNP gnomAD v3 gnomAD v4
3g.46898786C=CA1362310928PTH1Rc.763C= (p.Arg255=)
c.670C= (p.Arg224=)
c.802C= (p.Arg268=)
c.784C= (p.Arg262=)
3g.46898786C>GCA352497208PTH1Rc.763C>G (p.Arg255Gly)
c.670C>G (p.Arg224Gly)
c.802C>G (p.Arg268Gly)
c.784C>G (p.Arg262Gly)
3g.46898786C>TCA352497211PTH1Rc.763C>T (p.Arg255Cys)
c.670C>T (p.Arg224Cys)
c.802C>T (p.Arg268Cys)
c.784C>T (p.Arg262Cys)
 gnomAD v4
3g.46898787G>ACA73769905PTH1Rc.764G>A (p.Arg255His)
c.671G>A (p.Arg224His)
c.803G>A (p.Arg268His)
c.785G>A (p.Arg262His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46898787G>CCA352497216PTH1Rc.764G>C (p.Arg255Pro)
c.671G>C (p.Arg224Pro)
c.803G>C (p.Arg268Pro)
c.785G>C (p.Arg262Pro)
 gnomAD v4
3g.46898787G=CA1362310930PTH1Rc.764G= (p.Arg255=)
c.671G= (p.Arg224=)
c.803G= (p.Arg268=)
c.785G= (p.Arg262=)
3g.46898787G>TCA352497218PTH1Rc.764G>T (p.Arg255Leu)
c.671G>T (p.Arg224Leu)
c.803G>T (p.Arg268Leu)
c.785G>T (p.Arg262Leu)
 gnomAD v4
3g.46898788C>ACA433471609PTH1Rc.765C>A (p.Arg255=)
c.672C>A (p.Arg224=)
c.804C>A (p.Arg268=)
c.786C>A (p.Arg262=)
 gnomAD v4
3g.46898788C>GCA433471611PTH1Rc.765C>G (p.Arg255=)
c.672C>G (p.Arg224=)
c.804C>G (p.Arg268=)
c.786C>G (p.Arg262=)
3g.46898788C>TCA433471612PTH1Rc.765C>T (p.Arg255=)
c.672C>T (p.Arg224=)
c.804C>T (p.Arg268=)
c.786C>T (p.Arg262=)
 gnomAD v4
3g.46898789C>ACA352497228PTH1Rc.766C>A (p.Leu256Ile)
c.673C>A (p.Leu225Ile)
c.805C>A (p.Leu269Ile)
c.787C>A (p.Leu263Ile)
3g.46898789C>GCA352497225PTH1Rc.766C>G (p.Leu256Val)
c.673C>G (p.Leu225Val)
c.805C>G (p.Leu269Val)
c.787C>G (p.Leu263Val)
3g.46898789C>TCA352497227PTH1Rc.766C>T (p.Leu256Phe)
c.673C>T (p.Leu225Phe)
c.805C>T (p.Leu269Phe)
c.787C>T (p.Leu263Phe)
 gnomAD v4
3g.46898790_46898791delCA2665482405PTH1Rc.767_768del (p.Leu256HisfsTer?)
c.674_675del (p.Leu225HisfsTer?)
c.806_807del (p.Leu269HisfsTer?)
c.788_789del (p.Leu263HisfsTer?)
 gnomAD v4
3g.46898790T>ACA352497232PTH1Rc.767T>A (p.Leu256His)
c.674T>A (p.Leu225His)
c.806T>A (p.Leu269His)
c.788T>A (p.Leu263His)
3g.46898790T>CCA352497233PTH1Rc.767T>C (p.Leu256Pro)
c.674T>C (p.Leu225Pro)
c.806T>C (p.Leu269Pro)
c.788T>C (p.Leu263Pro)
3g.46898790T>GCA352497234PTH1Rc.767T>G (p.Leu256Arg)
c.674T>G (p.Leu225Arg)
c.806T>G (p.Leu269Arg)
c.788T>G (p.Leu263Arg)
3g.46898791C>ACA433471624PTH1Rc.768C>A (p.Leu256=)
c.675C>A (p.Leu225=)
c.807C>A (p.Leu269=)
c.789C>A (p.Leu263=)
 gnomAD v4
3g.46898791C>GCA433471626PTH1Rc.768C>G (p.Leu256=)
c.675C>G (p.Leu225=)
c.807C>G (p.Leu269=)
c.789C>G (p.Leu263=)
3g.46898791C>TCA433471627PTH1Rc.768C>T (p.Leu256=)
c.675C>T (p.Leu225=)
c.807C>T (p.Leu269=)
c.789C>T (p.Leu263=)
3g.46898792A>CCA352497236PTH1Rc.769A>C (p.Thr257Pro)
c.676A>C (p.Thr226Pro)
c.808A>C (p.Thr270Pro)
c.790A>C (p.Thr264Pro)
3g.46898792A>GCA352497238PTH1Rc.769A>G (p.Thr257Ala)
c.676A>G (p.Thr226Ala)
c.808A>G (p.Thr270Ala)
c.790A>G (p.Thr264Ala)
3g.46898792A>TCA352497240PTH1Rc.769A>T (p.Thr257Ser)
c.676A>T (p.Thr226Ser)
c.808A>T (p.Thr270Ser)
c.790A>T (p.Thr264Ser)
3g.46898793C>ACA352497244PTH1Rc.770C>A (p.Thr257Asn)
c.677C>A (p.Thr226Asn)
c.809C>A (p.Thr270Asn)
c.791C>A (p.Thr264Asn)
 gnomAD v4
3g.46898793C>GCA352497249PTH1Rc.770C>G (p.Thr257Ser)
c.677C>G (p.Thr226Ser)
c.809C>G (p.Thr270Ser)
c.791C>G (p.Thr264Ser)
 gnomAD v4
3g.46898793C>TCA352497247PTH1Rc.770C>T (p.Thr257Ile)
c.677C>T (p.Thr226Ile)
c.809C>T (p.Thr270Ile)
c.791C>T (p.Thr264Ile)
3g.46898794C>ACA2359308PTH1Rc.771C>A (p.Thr257=)
c.678C>A (p.Thr226=)
c.810C>A (p.Thr270=)
c.792C>A (p.Thr264=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46898794C=CA1362310932PTH1Rc.771C= (p.Thr257=)
c.678C= (p.Thr226=)
c.810C= (p.Thr270=)
c.792C= (p.Thr264=)
3g.46898794C>GCA2359309PTH1Rc.771C>G (p.Thr257=)
c.678C>G (p.Thr226=)
c.810C>G (p.Thr270=)
c.792C>G (p.Thr264=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46898794C>TCA433471637PTH1Rc.771C>T (p.Thr257=)
c.678C>T (p.Thr226=)
c.810C>T (p.Thr270=)
c.792C>T (p.Thr264=)
3g.46898794_46898797delinsCGAGCA1362310933PTH1Rc.771_774delinsCGAG (p.Thr257=)
c.678_681delinsCGAG (p.Thr226=)
c.810_813delinsCGAG (p.Thr270=)
c.792_795delinsCGAG (p.Thr264=)
3g.46898795G>ACA352497261PTH1Rc.772G>A (p.Glu258Lys)
c.679G>A (p.Glu227Lys)
c.811G>A (p.Glu271Lys)
c.793G>A (p.Glu265Lys)
 dbSNP gnomAD v2 gnomAD v4
3g.46898795G>CCA352497264PTH1Rc.772G>C (p.Glu258Gln)
c.679G>C (p.Glu227Gln)
c.811G>C (p.Glu271Gln)
c.793G>C (p.Glu265Gln)
3g.46898795G=CA1362310936PTH1Rc.772G= (p.Glu258=)
c.679G= (p.Glu227=)
c.811G= (p.Glu271=)
c.793G= (p.Glu265=)
3g.46898795G>TCA352497267PTH1Rc.772G>T (p.Glu258Ter)
c.679G>T (p.Glu227Ter)
c.811G>T (p.Glu271Ter)
c.793G>T (p.Glu265Ter)
 gnomAD v4
3g.46898801_46898803delCA907620659PTH1Rc.778_780del (p.Glu260del)
c.685_687del (p.Glu229del)
c.817_819del (p.Glu273del)
c.799_801del (p.Glu267del)
 dbSNP
3g.46898796A>CCA352497272PTH1Rc.773A>C (p.Glu258Ala)
c.680A>C (p.Glu227Ala)
c.812A>C (p.Glu271Ala)
c.794A>C (p.Glu265Ala)
3g.46898796A>GCA352497275PTH1Rc.773A>G (p.Glu258Gly)
c.680A>G (p.Glu227Gly)
c.812A>G (p.Glu271Gly)
c.794A>G (p.Glu265Gly)
3g.46898796A>TCA352497277PTH1Rc.773A>T (p.Glu258Val)
c.680A>T (p.Glu227Val)
c.812A>T (p.Glu271Val)
c.794A>T (p.Glu265Val)
 gnomAD v4
3g.46898797G>ACA433471651PTH1Rc.774G>A (p.Glu258=)
c.681G>A (p.Glu227=)
c.813G>A (p.Glu271=)
c.795G>A (p.Glu265=)
 gnomAD v4
3g.46898797G>CCA352497282PTH1Rc.774G>C (p.Glu258Asp)
c.681G>C (p.Glu227Asp)
c.813G>C (p.Glu271Asp)
c.795G>C (p.Glu265Asp)
 dbSNP gnomAD v2 gnomAD v4
3g.46898797G=CA1362310938PTH1Rc.774G= (p.Glu258=)
c.681G= (p.Glu227=)
c.813G= (p.Glu271=)
c.795G= (p.Glu265=)
3g.46898797G>TCA352497285PTH1Rc.774G>T (p.Glu258Asp)
c.681G>T (p.Glu227Asp)
c.813G>T (p.Glu271Asp)
c.795G>T (p.Glu265Asp)
3g.46898798G>ACA352497289PTH1Rc.775G>A (p.Glu259Lys)
c.682G>A (p.Glu228Lys)
c.814G>A (p.Glu272Lys)
c.796G>A (p.Glu266Lys)
 dbSNP
3g.46898798G>CCA352497290PTH1Rc.775G>C (p.Glu259Gln)
c.682G>C (p.Glu228Gln)
c.814G>C (p.Glu272Gln)
c.796G>C (p.Glu266Gln)
3g.46898798G=CA1362310939PTH1Rc.775G= (p.Glu259=)
c.682G= (p.Glu228=)
c.814G= (p.Glu272=)
c.796G= (p.Glu266=)
3g.46898798G>TCA352497293PTH1Rc.775G>T (p.Glu259Ter)
c.682G>T (p.Glu228Ter)
c.814G>T (p.Glu272Ter)
c.796G>T (p.Glu266Ter)
 gnomAD v4
3g.46898799A>CCA352497298PTH1Rc.776A>C (p.Glu259Ala)
c.683A>C (p.Glu228Ala)
c.815A>C (p.Glu272Ala)
c.797A>C (p.Glu266Ala)
3g.46898799A>GCA352497309PTH1Rc.776A>G (p.Glu259Gly)
c.683A>G (p.Glu228Gly)
c.815A>G (p.Glu272Gly)
c.797A>G (p.Glu266Gly)
3g.46898799A>TCA352497300PTH1Rc.776A>T (p.Glu259Val)
c.683A>T (p.Glu228Val)
c.815A>T (p.Glu272Val)
c.797A>T (p.Glu266Val)
3g.46898800G>ACA433471660PTH1Rc.777G>A (p.Glu259=)
c.684G>A (p.Glu228=)
c.816G>A (p.Glu272=)
c.798G>A (p.Glu266=)
3g.46898800G>CCA352497314PTH1Rc.777G>C (p.Glu259Asp)
c.684G>C (p.Glu228Asp)
c.816G>C (p.Glu272Asp)
c.798G>C (p.Glu266Asp)
3g.46898800G>TCA352497317PTH1Rc.777G>T (p.Glu259Asp)
c.684G>T (p.Glu228Asp)
c.816G>T (p.Glu272Asp)
c.798G>T (p.Glu266Asp)
 gnomAD v4 COSMIC
3g.46898801G>ACA352497320PTH1Rc.778G>A (p.Glu260Lys)
c.685G>A (p.Glu229Lys)
c.817G>A (p.Glu273Lys)
c.799G>A (p.Glu267Lys)
3g.46898801G>CCA352497324PTH1Rc.778G>C (p.Glu260Gln)
c.685G>C (p.Glu229Gln)
c.817G>C (p.Glu273Gln)
c.799G>C (p.Glu267Gln)
3g.46898801G>TCA352497326PTH1Rc.778G>T (p.Glu260Ter)
c.685G>T (p.Glu229Ter)
c.817G>T (p.Glu273Ter)
c.799G>T (p.Glu267Ter)
 gnomAD v4
3g.46898802A>CCA352497330PTH1Rc.779A>C (p.Glu260Ala)
c.686A>C (p.Glu229Ala)
c.818A>C (p.Glu273Ala)
c.800A>C (p.Glu267Ala)
3g.46898802A>GCA352497333PTH1Rc.779A>G (p.Glu260Gly)
c.686A>G (p.Glu229Gly)
c.818A>G (p.Glu273Gly)
c.800A>G (p.Glu267Gly)
3g.46898802A>TCA352497334PTH1Rc.779A>T (p.Glu260Val)
c.686A>T (p.Glu229Val)
c.818A>T (p.Glu273Val)
c.800A>T (p.Glu267Val)
3g.46898803G>ACA433471672PTH1Rc.780G>A (p.Glu260=)
c.687G>A (p.Glu229=)
c.819G>A (p.Glu273=)
c.801G>A (p.Glu267=)
 dbSNP gnomAD v2 gnomAD v4
3g.46898803G>CCA352497335PTH1Rc.780G>C (p.Glu260Asp)
c.687G>C (p.Glu229Asp)
c.819G>C (p.Glu273Asp)
c.801G>C (p.Glu267Asp)
3g.46898803G=CA1362310941PTH1Rc.780G= (p.Glu260=)
c.687G= (p.Glu229=)
c.819G= (p.Glu273=)
c.801G= (p.Glu267=)
3g.46898803G>TCA352497336PTH1Rc.780G>T (p.Glu260Asp)
c.687G>T (p.Glu229Asp)
c.819G>T (p.Glu273Asp)
c.801G>T (p.Glu267Asp)
 gnomAD v4
3g.46898805_46898831delCA2665482406PTH1Rc.782_808del (p.Leu261_Pro269del)
c.689_715del (p.Leu230_Pro238del)
c.821_847del (p.Leu274_Pro282del)
c.803_829del (p.Leu268_Pro276del)
 gnomAD v4
3g.46898804C>ACA352497337PTH1Rc.781C>A (p.Leu261Met)
c.688C>A (p.Leu230Met)
c.820C>A (p.Leu274Met)
c.802C>A (p.Leu268Met)
 gnomAD v4
3g.46898804C>GCA352497338PTH1Rc.781C>G (p.Leu261Val)
c.688C>G (p.Leu230Val)
c.820C>G (p.Leu274Val)
c.802C>G (p.Leu268Val)
3g.46898804C>TCA433471679PTH1Rc.781C>T (p.Leu261=)
c.688C>T (p.Leu230=)
c.820C>T (p.Leu274=)
c.802C>T (p.Leu268=)
3g.46898805T>ACA352497340PTH1Rc.782T>A (p.Leu261Gln)
c.689T>A (p.Leu230Gln)
c.821T>A (p.Leu274Gln)
c.803T>A (p.Leu268Gln)
3g.46898805T>CCA2359311PTH1Rc.782T>C (p.Leu261Pro)
c.689T>C (p.Leu230Pro)
c.821T>C (p.Leu274Pro)
c.803T>C (p.Leu268Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46898805T>GCA2359310PTH1Rc.782T>G (p.Leu261Arg)
c.689T>G (p.Leu230Arg)
c.821T>G (p.Leu274Arg)
c.803T>G (p.Leu268Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46898805T=CA1362310943PTH1Rc.782T= (p.Leu261=)
c.689T= (p.Leu230=)
c.821T= (p.Leu274=)
c.803T= (p.Leu268=)
3g.46898806G>ACA433471687PTH1Rc.783G>A (p.Leu261=)
c.690G>A (p.Leu230=)
c.822G>A (p.Leu274=)
c.804G>A (p.Leu268=)
 gnomAD v4
3g.46898806G>CCA433471689PTH1Rc.783G>C (p.Leu261=)
c.690G>C (p.Leu230=)
c.822G>C (p.Leu274=)
c.804G>C (p.Leu268=)
3g.46898806G=CA1362310946PTH1Rc.783G= (p.Leu261=)
c.690G= (p.Leu230=)
c.822G= (p.Leu274=)
c.804G= (p.Leu268=)
3g.46898806G>TCA73769932PTH1Rc.783G>T (p.Leu261=)
c.690G>T (p.Leu230=)
c.822G>T (p.Leu274=)
c.804G>T (p.Leu268=)
 dbSNP gnomAD v4
3g.46898806_46898807insGTCAAGCTCCA2740412505PTH1Rc.783_784insGTCAAGCTC (p.Leu261_Arg262insValLysLeu)
c.690_691insGTCAAGCTC (p.Leu230_Arg231insValLysLeu)
c.822_823insGTCAAGCTC (p.Leu274_Arg275insValLysLeu)
c.804_805insGTCAAGCTC (p.Leu268_Arg269insValLysLeu)
3g.46898807C>ACA352497345PTH1Rc.784C>A (p.Arg262Ser)
c.691C>A (p.Arg231Ser)
c.823C>A (p.Arg275Ser)
c.805C>A (p.Arg269Ser)
 gnomAD v4
3g.46898807C=CA1362310948PTH1Rc.784C= (p.Arg262=)
c.691C= (p.Arg231=)
c.823C= (p.Arg275=)
c.805C= (p.Arg269=)
3g.46898807C>GCA352497346PTH1Rc.784C>G (p.Arg262Gly)
c.691C>G (p.Arg231Gly)
c.823C>G (p.Arg275Gly)
c.805C>G (p.Arg269Gly)
 gnomAD v4
3g.46898807C>TCA352497349PTH1Rc.784C>T (p.Arg262Cys)
c.691C>T (p.Arg231Cys)
c.823C>T (p.Arg275Cys)
c.805C>T (p.Arg269Cys)
 dbSNP gnomAD v4
3g.46898808G>ACA2359312PTH1Rc.785G>A (p.Arg262His)
c.692G>A (p.Arg231His)
c.824G>A (p.Arg275His)
c.806G>A (p.Arg269His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.46898808G>CCA352497355PTH1Rc.785G>C (p.Arg262Pro)
c.692G>C (p.Arg231Pro)
c.824G>C (p.Arg275Pro)
c.806G>C (p.Arg269Pro)
 gnomAD v4
3g.46898808G=CA1362310949PTH1Rc.785G= (p.Arg262=)
c.692G= (p.Arg231=)
c.824G= (p.Arg275=)
c.806G= (p.Arg269=)
3g.46898808G>TCA352497352PTH1Rc.785G>T (p.Arg262Leu)
c.692G>T (p.Arg231Leu)
c.824G>T (p.Arg275Leu)
c.806G>T (p.Arg269Leu)
3g.46898809C>ACA433471702PTH1Rc.786C>A (p.Arg262=)
c.693C>A (p.Arg231=)
c.825C>A (p.Arg275=)
c.807C>A (p.Arg269=)
 gnomAD v4
3g.46898809C>GCA433471704PTH1Rc.786C>G (p.Arg262=)
c.693C>G (p.Arg231=)
c.825C>G (p.Arg275=)
c.807C>G (p.Arg269=)
3g.46898809C>TCA433471706PTH1Rc.786C>T (p.Arg262=)
c.693C>T (p.Arg231=)
c.825C>T (p.Arg275=)
c.807C>T (p.Arg269=)
3g.46898810G>ACA352497357PTH1Rc.787G>A (p.Ala263Thr)
c.694G>A (p.Ala232Thr)
c.826G>A (p.Ala276Thr)
c.808G>A (p.Ala270Thr)
 dbSNP gnomAD v3 gnomAD v4
3g.46898810G>CCA352497358PTH1Rc.787G>C (p.Ala263Pro)
c.694G>C (p.Ala232Pro)
c.826G>C (p.Ala276Pro)
c.808G>C (p.Ala270Pro)
3g.46898810G=CA1362310951PTH1Rc.787G= (p.Ala263=)
c.694G= (p.Ala232=)
c.826G= (p.Ala276=)
c.808G= (p.Ala270=)
3g.46898810G>TCA352497359PTH1Rc.787G>T (p.Ala263Ser)
c.694G>T (p.Ala232Ser)
c.826G>T (p.Ala276Ser)
c.808G>T (p.Ala270Ser)
 gnomAD v4
3g.46898811C>ACA352497361PTH1Rc.788C>A (p.Ala263Asp)
c.695C>A (p.Ala232Asp)
c.827C>A (p.Ala276Asp)
c.809C>A (p.Ala270Asp)
3g.46898811C>GCA352497362PTH1Rc.788C>G (p.Ala263Gly)
c.695C>G (p.Ala232Gly)
c.827C>G (p.Ala276Gly)
c.809C>G (p.Ala270Gly)
3g.46898811C>TCA352497365PTH1Rc.788C>T (p.Ala263Val)
c.695C>T (p.Ala232Val)
c.827C>T (p.Ala276Val)
c.809C>T (p.Ala270Val)
 gnomAD v4
3g.46898812C>ACA433471716PTH1Rc.789C>A (p.Ala263=)
c.696C>A (p.Ala232=)
c.828C>A (p.Ala276=)
c.810C>A (p.Ala270=)
3g.46898812C>GCA433471718PTH1Rc.789C>G (p.Ala263=)
c.696C>G (p.Ala232=)
c.828C>G (p.Ala276=)
c.810C>G (p.Ala270=)
3g.46898812C>TCA433471720PTH1Rc.789C>T (p.Ala263=)
c.696C>T (p.Ala232=)
c.828C>T (p.Ala276=)
c.810C>T (p.Ala270=)
 gnomAD v4
3g.46898812_46898813insCACCA2740412506PTH1Rc.789_790insCAC (p.Ala263_Ile264insHis)
c.696_697insCAC (p.Ala232_Ile233insHis)
c.828_829insCAC (p.Ala276_Ile277insHis)
c.810_811insCAC (p.Ala270_Ile271insHis)
3g.46898813A>CCA352497367PTH1Rc.790A>C (p.Ile264Leu)
c.697A>C (p.Ile233Leu)
c.829A>C (p.Ile277Leu)
c.811A>C (p.Ile271Leu)
3g.46898813A>GCA352497371PTH1Rc.790A>G (p.Ile264Val)
c.697A>G (p.Ile233Val)
c.829A>G (p.Ile277Val)
c.811A>G (p.Ile271Val)
3g.46898813A>TCA352497370PTH1Rc.790A>T (p.Ile264Phe)
c.697A>T (p.Ile233Phe)
c.829A>T (p.Ile277Phe)
c.811A>T (p.Ile271Phe)
3g.46898814T>ACA352497373PTH1Rc.791T>A (p.Ile264Asn)
c.698T>A (p.Ile233Asn)
c.830T>A (p.Ile277Asn)
c.812T>A (p.Ile271Asn)
3g.46898814T>CCA352497375PTH1Rc.791T>C (p.Ile264Thr)
c.698T>C (p.Ile233Thr)
c.830T>C (p.Ile277Thr)
c.812T>C (p.Ile271Thr)
3g.46898814T>GCA352497374PTH1Rc.791T>G (p.Ile264Ser)
c.698T>G (p.Ile233Ser)
c.830T>G (p.Ile277Ser)
c.812T>G (p.Ile271Ser)
3g.46898815C>ACA433471731PTH1Rc.792C>A (p.Ile264=)
c.699C>A (p.Ile233=)
c.831C>A (p.Ile277=)
c.813C>A (p.Ile271=)
 dbSNP
3g.46898815C=CA1362310953PTH1Rc.792C= (p.Ile264=)
c.699C= (p.Ile233=)
c.831C= (p.Ile277=)
c.813C= (p.Ile271=)
3g.46898815C>GCA352497378PTH1Rc.792C>G (p.Ile264Met)
c.699C>G (p.Ile233Met)
c.831C>G (p.Ile277Met)
c.813C>G (p.Ile271Met)
3g.46898815C>TCA2359313PTH1Rc.792C>T (p.Ile264=)
c.699C>T (p.Ile233=)
c.831C>T (p.Ile277=)
c.813C>T (p.Ile271=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46898816G>ACA352497383PTH1Rc.793G>A (p.Ala265Thr)
c.700G>A (p.Ala234Thr)
c.832G>A (p.Ala278Thr)
c.814G>A (p.Ala272Thr)
 gnomAD v4
3g.46898816G>CCA352497384PTH1Rc.793G>C (p.Ala265Pro)
c.700G>C (p.Ala234Pro)
c.832G>C (p.Ala278Pro)
c.814G>C (p.Ala272Pro)
3g.46898816G>TCA352497385PTH1Rc.793G>T (p.Ala265Ser)
c.700G>T (p.Ala234Ser)
c.832G>T (p.Ala278Ser)
c.814G>T (p.Ala272Ser)
 gnomAD v4
3g.46898816_46898817insACGGCAACTACA2740412507PTH1Rc.793_794insACGGCAACTA (p.Ala265AspfsTer?)
c.700_701insACGGCAACTA (p.Ala234AspfsTer?)
c.832_833insACGGCAACTA (p.Ala278AspfsTer?)
c.814_815insACGGCAACTA (p.Ala272AspfsTer?)
3g.46898817C>ACA352497386PTH1Rc.794C>A (p.Ala265Asp)
c.701C>A (p.Ala234Asp)
c.833C>A (p.Ala278Asp)
c.815C>A (p.Ala272Asp)
3g.46898817C=CA1362310955PTH1Rc.794C= (p.Ala265=)
c.701C= (p.Ala234=)
c.833C= (p.Ala278=)
c.815C= (p.Ala272=)
3g.46898817C>GCA2359314PTH1Rc.794C>G (p.Ala265Gly)
c.701C>G (p.Ala234Gly)
c.833C>G (p.Ala278Gly)
c.815C>G (p.Ala272Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46898817C>TCA352497398PTH1Rc.794C>T (p.Ala265Val)
c.701C>T (p.Ala234Val)
c.833C>T (p.Ala278Val)
c.815C>T (p.Ala272Val)
 gnomAD v4
3g.46898818C>ACA433471742PTH1Rc.795C>A (p.Ala265=)
c.702C>A (p.Ala234=)
c.834C>A (p.Ala278=)
c.816C>A (p.Ala272=)
3g.46898818C>GCA433471743PTH1Rc.795C>G (p.Ala265=)
c.702C>G (p.Ala234=)
c.834C>G (p.Ala278=)
c.816C>G (p.Ala272=)
3g.46898818C>TCA433471745PTH1Rc.795C>T (p.Ala265=)
c.702C>T (p.Ala234=)
c.834C>T (p.Ala278=)
c.816C>T (p.Ala272=)
3g.46898818_46898819insAGGTTGAGGGTGACCTGCGTCGTGAGGTTCA2740412508PTH1Rc.795_796insAGGTTGAGGGTGACCTGCGTCGTGAGGTT (p.Gln266ArgfsTer30)
c.702_703insAGGTTGAGGGTGACCTGCGTCGTGAGGTT (p.Gln235ArgfsTer30)
c.834_835insAGGTTGAGGGTGACCTGCGTCGTGAGGTT (p.Gln279ArgfsTer30)
c.816_817insAGGTTGAGGGTGACCTGCGTCGTGAGGTT (p.Gln273ArgfsTer30)
3g.46898819C>ACA352497400PTH1Rc.796C>A (p.Gln266Lys)
c.703C>A (p.Gln235Lys)
c.835C>A (p.Gln279Lys)
c.817C>A (p.Gln273Lys)
 gnomAD v4
3g.46898819C>GCA352497401PTH1Rc.796C>G (p.Gln266Glu)
c.703C>G (p.Gln235Glu)
c.835C>G (p.Gln279Glu)
c.817C>G (p.Gln273Glu)
3g.46898819C>TCA352497402PTH1Rc.796C>T (p.Gln266Ter)
c.703C>T (p.Gln235Ter)
c.835C>T (p.Gln279Ter)
c.817C>T (p.Gln273Ter)
3g.46898820A>CCA352497409PTH1Rc.797A>C (p.Gln266Pro)
c.704A>C (p.Gln235Pro)
c.836A>C (p.Gln279Pro)
c.818A>C (p.Gln273Pro)
3g.46898820A>GCA352497404PTH1Rc.797A>G (p.Gln266Arg)
c.704A>G (p.Gln235Arg)
c.836A>G (p.Gln279Arg)
c.818A>G (p.Gln273Arg)
3g.46898820A>TCA352497407PTH1Rc.797A>T (p.Gln266Leu)
c.704A>T (p.Gln235Leu)
c.836A>T (p.Gln279Leu)
c.818A>T (p.Gln273Leu)
3g.46898821G>ACA433471755PTH1Rc.798G>A (p.Gln266=)
c.705G>A (p.Gln235=)
c.837G>A (p.Gln279=)
c.819G>A (p.Gln273=)
3g.46898821G>CCA352497413PTH1Rc.798G>C (p.Gln266His)
c.705G>C (p.Gln235His)
c.837G>C (p.Gln279His)
c.819G>C (p.Gln273His)
3g.46898821G>TCA352497416PTH1Rc.798G>T (p.Gln266His)
c.705G>T (p.Gln235His)
c.837G>T (p.Gln279His)
c.819G>T (p.Gln273His)
 gnomAD v4
3g.46898822G>ACA352497422PTH1Rc.799G>A (p.Ala267Thr)
c.706G>A (p.Ala236Thr)
c.838G>A (p.Ala280Thr)
c.820G>A (p.Ala274Thr)
3g.46898822G>CCA352497425PTH1Rc.799G>C (p.Ala267Pro)
c.706G>C (p.Ala236Pro)
c.838G>C (p.Ala280Pro)
c.820G>C (p.Ala274Pro)
3g.46898822G>TCA352497429PTH1Rc.799G>T (p.Ala267Ser)
c.706G>T (p.Ala236Ser)
c.838G>T (p.Ala280Ser)
c.820G>T (p.Ala274Ser)
 gnomAD v4
3g.46898823C>ACA2359315PTH1Rc.800C>A (p.Ala267Glu)
c.707C>A (p.Ala236Glu)
c.839C>A (p.Ala280Glu)
c.821C>A (p.Ala274Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46898823C=CA1362310957PTH1Rc.800C= (p.Ala267=)
c.707C= (p.Ala236=)
c.839C= (p.Ala280=)
c.821C= (p.Ala274=)
3g.46898823C>GCA352497438PTH1Rc.800C>G (p.Ala267Gly)
c.707C>G (p.Ala236Gly)
c.839C>G (p.Ala280Gly)
c.821C>G (p.Ala274Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46898823C>TCA352497442PTH1Rc.800C>T (p.Ala267Val)
c.707C>T (p.Ala236Val)
c.839C>T (p.Ala280Val)
c.821C>T (p.Ala274Val)
 gnomAD v4

Number of alleles fetched