Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.46898693A=CA1362310816PTH1Rc.670A= (p.Met224=)
n.690A=
c.577A= (p.Met193=)
c.709A= (p.Met237=)
c.691A= (p.Met231=)
3g.46898693A>CCA352496192PTH1Rc.670A>C (p.Met224Leu)
n.690A>C
c.577A>C (p.Met193Leu)
c.709A>C (p.Met237Leu)
c.691A>C (p.Met231Leu)
3g.46898693A>GCA2359293PTH1Rc.670A>G (p.Met224Val)
n.690A>G
c.577A>G (p.Met193Val)
c.709A>G (p.Met237Val)
c.691A>G (p.Met231Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46898693A>TCA2359294PTH1Rc.670A>T (p.Met224Leu)
n.690A>T
c.577A>T (p.Met193Leu)
c.709A>T (p.Met237Leu)
c.691A>T (p.Met231Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46898694T>ACA352496220PTH1Rc.671T>A (p.Met224Lys)
n.691T>A
c.578T>A (p.Met193Lys)
c.710T>A (p.Met237Lys)
c.692T>A (p.Met231Lys)
3g.46898694T>CCA73769860PTH1Rc.671T>C (p.Met224Thr)
n.691T>C
c.578T>C (p.Met193Thr)
c.710T>C (p.Met237Thr)
c.692T>C (p.Met231Thr)
 dbSNP gnomAD v4
3g.46898694T>GCA352496228PTH1Rc.671T>G (p.Met224Arg)
n.691T>G
c.578T>G (p.Met193Arg)
c.710T>G (p.Met237Arg)
c.692T>G (p.Met231Arg)
3g.46898694T=CA1362310820PTH1Rc.671T= (p.Met224=)
n.691T=
c.578T= (p.Met193=)
c.710T= (p.Met237=)
c.692T= (p.Met231=)
3g.46898695G>ACA352496235PTH1Rc.672G>A (p.Met224Ile)
n.692G>A
c.579G>A (p.Met193Ile)
c.711G>A (p.Met237Ile)
c.693G>A (p.Met231Ile)
3g.46898695G>CCA352496239PTH1Rc.672G>C (p.Met224Ile)
n.692G>C
c.579G>C (p.Met193Ile)
c.711G>C (p.Met237Ile)
c.693G>C (p.Met231Ile)
3g.46898695G>TCA352496245PTH1Rc.672G>T (p.Met224Ile)
n.692G>T
c.579G>T (p.Met193Ile)
c.711G>T (p.Met237Ile)
c.693G>T (p.Met231Ile)
3g.46898697_46898722dupCA2665482404PTH1Rc.674_699dup (p.Ala234ThrfsTer11)
n.694_719dup
c.581_606dup (p.Ala203ThrfsTer11)
c.713_738dup (p.Ala247ThrfsTer11)
c.695_720dup (p.Ala241ThrfsTer11)
 gnomAD v4
3g.46898696C>ACA352496254PTH1Rc.673C>A (p.His225Asn)
n.693C>A
c.580C>A (p.His194Asn)
c.712C>A (p.His238Asn)
c.694C>A (p.His232Asn)
 gnomAD v4
3g.46898696C=CA1362310824PTH1Rc.673C= (p.His225=)
n.693C=
c.580C= (p.His194=)
c.712C= (p.His238=)
c.694C= (p.His232=)
3g.46898696C>GCA352496252PTH1Rc.673C>G (p.His225Asp)
n.693C>G
c.580C>G (p.His194Asp)
c.712C>G (p.His238Asp)
c.694C>G (p.His232Asp)
3g.46898696C>TCA2359295PTH1Rc.673C>T (p.His225Tyr)
n.693C>T
c.580C>T (p.His194Tyr)
c.712C>T (p.His238Tyr)
c.694C>T (p.His232Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46898697A=CA1362310828PTH1Rc.674A= (p.His225=)
n.694A=
c.581A= (p.His194=)
c.713A= (p.His238=)
c.695A= (p.His232=)
3g.46898697A>CCA352496266PTH1Rc.674A>C (p.His225Pro)
n.694A>C
c.581A>C (p.His194Pro)
c.713A>C (p.His238Pro)
c.695A>C (p.His232Pro)
3g.46898697A>GCA352496291PTH1Rc.674A>G (p.His225Arg)
n.694A>G
c.581A>G (p.His194Arg)
c.713A>G (p.His238Arg)
c.695A>G (p.His232Arg)
 dbSNP gnomAD v3 gnomAD v4
3g.46898697A>TCA352496296PTH1Rc.674A>T (p.His225Leu)
n.694A>T
c.581A>T (p.His194Leu)
c.713A>T (p.His238Leu)
c.695A>T (p.His232Leu)
3g.46898698C>ACA352496297PTH1Rc.675C>A (p.His225Gln)
n.695C>A
c.582C>A (p.His194Gln)
c.714C>A (p.His238Gln)
c.696C>A (p.His232Gln)
 gnomAD v4
3g.46898698C=CA1362310832PTH1Rc.675C= (p.His225=)
n.695C=
c.582C= (p.His194=)
c.714C= (p.His238=)
c.696C= (p.His232=)
3g.46898698C>GCA352496298PTH1Rc.675C>G (p.His225Gln)
n.695C>G
c.582C>G (p.His194Gln)
c.714C>G (p.His238Gln)
c.696C>G (p.His232Gln)
3g.46898698C>TCA2359296PTH1Rc.675C>T (p.His225=)
n.695C>T
c.582C>T (p.His194=)
c.714C>T (p.His238=)
c.696C>T (p.His232=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46898699C>ACA352496307PTH1Rc.676C>A (p.Leu226Met)
n.696C>A
c.583C>A (p.Leu195Met)
c.715C>A (p.Leu239Met)
c.697C>A (p.Leu233Met)
3g.46898699C=CA1362310834PTH1Rc.676C= (p.Leu226=)
n.696C=
c.583C= (p.Leu195=)
c.715C= (p.Leu239=)
c.697C= (p.Leu233=)
3g.46898699C>GCA352496308PTH1Rc.676C>G (p.Leu226Val)
n.696C>G
c.583C>G (p.Leu195Val)
c.715C>G (p.Leu239Val)
c.697C>G (p.Leu233Val)
3g.46898699C>TCA433471176PTH1Rc.676C>T (p.Leu226=)
n.696C>T
c.583C>T (p.Leu195=)
c.715C>T (p.Leu239=)
c.697C>T (p.Leu233=)
 dbSNP gnomAD v2
3g.46898700T>ACA352496312PTH1Rc.677T>A (p.Leu226Gln)
n.697T>A
c.584T>A (p.Leu195Gln)
c.716T>A (p.Leu239Gln)
c.698T>A (p.Leu233Gln)
3g.46898700T>CCA352496316PTH1Rc.677T>C (p.Leu226Pro)
n.697T>C
c.584T>C (p.Leu195Pro)
c.716T>C (p.Leu239Pro)
c.698T>C (p.Leu233Pro)
3g.46898700T>GCA352496321PTH1Rc.677T>G (p.Leu226Arg)
n.697T>G
c.584T>G (p.Leu195Arg)
c.716T>G (p.Leu239Arg)
c.698T>G (p.Leu233Arg)
 dbSNP gnomAD v2
3g.46898700T=CA1362310837PTH1Rc.677T= (p.Leu226=)
n.697T=
c.584T= (p.Leu195=)
c.716T= (p.Leu239=)
c.698T= (p.Leu233=)
3g.46898701G>ACA433471192PTH1Rc.678G>A (p.Leu226=)
n.698G>A
c.585G>A (p.Leu195=)
c.717G>A (p.Leu239=)
c.699G>A (p.Leu233=)
3g.46898701G>CCA433471197PTH1Rc.678G>C (p.Leu226=)
n.698G>C
c.585G>C (p.Leu195=)
c.717G>C (p.Leu239=)
c.699G>C (p.Leu233=)
3g.46898701G=CA1362310841PTH1Rc.678G= (p.Leu226=)
n.698G=
c.585G= (p.Leu195=)
c.717G= (p.Leu239=)
c.699G= (p.Leu233=)
3g.46898701G>TCA216064PTH1Rc.678G>T (p.Leu226=)
n.698G>T
c.585G>T (p.Leu195=)
c.717G>T (p.Leu239=)
c.699G>T (p.Leu233=)
 ClinVar dbSNP
3g.46898702T>ACA352496339PTH1Rc.679T>A (p.Phe227Ile)
n.699T>A
c.586T>A (p.Phe196Ile)
c.718T>A (p.Phe240Ile)
c.700T>A (p.Phe234Ile)
3g.46898702T>CCA352496343PTH1Rc.679T>C (p.Phe227Leu)
n.699T>C
c.586T>C (p.Phe196Leu)
c.718T>C (p.Phe240Leu)
c.700T>C (p.Phe234Leu)
3g.46898702T>GCA352496333PTH1Rc.679T>G (p.Phe227Val)
n.699T>G
c.586T>G (p.Phe196Val)
c.718T>G (p.Phe240Val)
c.700T>G (p.Phe234Val)
3g.46898703T>ACA352496355PTH1Rc.680T>A (p.Phe227Tyr)
n.700T>A
c.587T>A (p.Phe196Tyr)
c.719T>A (p.Phe240Tyr)
c.701T>A (p.Phe234Tyr)
3g.46898703T>CCA352496348PTH1Rc.680T>C (p.Phe227Ser)
n.700T>C
c.587T>C (p.Phe196Ser)
c.719T>C (p.Phe240Ser)
c.701T>C (p.Phe234Ser)
3g.46898703T>GCA352496352PTH1Rc.680T>G (p.Phe227Cys)
n.700T>G
c.587T>G (p.Phe196Cys)
c.719T>G (p.Phe240Cys)
c.701T>G (p.Phe234Cys)
3g.46898703_46898704delinsTCCA1362310845PTH1Rc.680_681delinsTC (p.Phe227=)
n.700_701delinsTC
c.587_588delinsTC (p.Phe196=)
c.719_720delinsTC (p.Phe240=)
c.701_702delinsTC (p.Phe234=)
3g.46898704C>ACA352496356PTH1Rc.681C>A (p.Phe227Leu)
n.701C>A
c.588C>A (p.Phe196Leu)
c.720C>A (p.Phe240Leu)
c.702C>A (p.Phe234Leu)
3g.46898704C=CA1362310847PTH1Rc.681C= (p.Phe227=)
n.701C=
c.588C= (p.Phe196=)
c.720C= (p.Phe240=)
c.702C= (p.Phe234=)
3g.46898704C>GCA352496359PTH1Rc.681C>G (p.Phe227Leu)
n.701C>G
c.588C>G (p.Phe196Leu)
c.720C>G (p.Phe240Leu)
c.702C>G (p.Phe234Leu)
3g.46898704C>TCA433471211PTH1Rc.681C>T (p.Phe227=)
n.701C>T
c.588C>T (p.Phe196=)
c.720C>T (p.Phe240=)
c.702C>T (p.Phe234=)
 dbSNP gnomAD v2 gnomAD v4
3g.46898705delCA2359297PTH1Rc.682del (p.Leu228CysfsTer8)
n.702del
c.589del (p.Leu197CysfsTer8)
c.721del (p.Leu241CysfsTer8)
c.703del (p.Leu235CysfsTer8)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46898705C>ACA352496365PTH1Rc.682C>A (p.Leu228Met)
n.702C>A
c.589C>A (p.Leu197Met)
c.721C>A (p.Leu241Met)
c.703C>A (p.Leu235Met)
 gnomAD v4
3g.46898705C=CA1362310854PTH1Rc.682C= (p.Leu228=)
n.702C=
c.589C= (p.Leu197=)
c.721C= (p.Leu241=)
c.703C= (p.Leu235=)
3g.46898705C>GCA352496366PTH1Rc.682C>G (p.Leu228Val)
n.702C>G
c.589C>G (p.Leu197Val)
c.721C>G (p.Leu241Val)
c.703C>G (p.Leu235Val)
 gnomAD v4
3g.46898705C>TCA433471226PTH1Rc.682C>T (p.Leu228=)
n.702C>T
c.589C>T (p.Leu197=)
c.721C>T (p.Leu241=)
c.703C>T (p.Leu235=)
 dbSNP gnomAD v2 gnomAD v4
3g.46898706T>ACA352496367PTH1Rc.683T>A (p.Leu228Gln)
n.703T>A
c.590T>A (p.Leu197Gln)
c.722T>A (p.Leu241Gln)
c.704T>A (p.Leu235Gln)
3g.46898706T>CCA352496370PTH1Rc.683T>C (p.Leu228Pro)
n.703T>C
c.590T>C (p.Leu197Pro)
c.722T>C (p.Leu241Pro)
c.704T>C (p.Leu235Pro)
3g.46898706T>GCA352496373PTH1Rc.683T>G (p.Leu228Arg)
n.703T>G
c.590T>G (p.Leu197Arg)
c.722T>G (p.Leu241Arg)
c.704T>G (p.Leu235Arg)
3g.46898707G>ACA433471239PTH1Rc.684G>A (p.Leu228=)
n.704G>A
c.591G>A (p.Leu197=)
c.723G>A (p.Leu241=)
c.705G>A (p.Leu235=)
3g.46898707G>CCA433471243PTH1Rc.684G>C (p.Leu228=)
n.704G>C
c.591G>C (p.Leu197=)
c.723G>C (p.Leu241=)
c.705G>C (p.Leu235=)
3g.46898707G>TCA433471247PTH1Rc.684G>T (p.Leu228=)
n.704G>T
c.591G>T (p.Leu197=)
c.723G>T (p.Leu241=)
c.705G>T (p.Leu235=)
 gnomAD v4
3g.46898708T>ACA352496380PTH1Rc.685T>A (p.Ser229Thr)
n.705T>A
c.592T>A (p.Ser198Thr)
c.724T>A (p.Ser242Thr)
c.706T>A (p.Ser236Thr)
3g.46898708T>CCA352496398PTH1Rc.685T>C (p.Ser229Pro)
n.705T>C
c.592T>C (p.Ser198Pro)
c.724T>C (p.Ser242Pro)
c.706T>C (p.Ser236Pro)
3g.46898708T>GCA352496402PTH1Rc.685T>G (p.Ser229Ala)
n.705T>G
c.592T>G (p.Ser198Ala)
c.724T>G (p.Ser242Ala)
c.706T>G (p.Ser236Ala)
3g.46898709C>ACA352496417PTH1Rc.686C>A (p.Ser229Tyr)
n.706C>A
c.593C>A (p.Ser198Tyr)
c.725C>A (p.Ser242Tyr)
c.707C>A (p.Ser236Tyr)
 COSMIC
3g.46898709C>GCA352496409PTH1Rc.686C>G (p.Ser229Cys)
n.706C>G
c.593C>G (p.Ser198Cys)
c.725C>G (p.Ser242Cys)
c.707C>G (p.Ser236Cys)
3g.46898709C>TCA352496413PTH1Rc.686C>T (p.Ser229Phe)
n.706C>T
c.593C>T (p.Ser198Phe)
c.725C>T (p.Ser242Phe)
c.707C>T (p.Ser236Phe)
 gnomAD v4
3g.46898709_46898712delinsCCTTCA1362310856PTH1Rc.686_689delinsCCTT (p.Ser229=)
n.706_709delinsCCTT
c.593_596delinsCCTT (p.Ser198=)
c.725_728delinsCCTT (p.Ser242=)
c.707_710delinsCCTT (p.Ser236=)
3g.46898710C>ACA433471273PTH1Rc.687C>A (p.Ser229=)
n.707C>A
c.594C>A (p.Ser198=)
c.726C>A (p.Ser242=)
c.708C>A (p.Ser236=)
3g.46898710C=CA1362310858PTH1Rc.687C= (p.Ser229=)
n.707C=
c.594C= (p.Ser198=)
c.726C= (p.Ser242=)
c.708C= (p.Ser236=)
3g.46898710C>GCA433471276PTH1Rc.687C>G (p.Ser229=)
n.707C>G
c.594C>G (p.Ser198=)
c.726C>G (p.Ser242=)
c.708C>G (p.Ser236=)
3g.46898710C>TCA433471279PTH1Rc.687C>T (p.Ser229=)
n.707C>T
c.594C>T (p.Ser198=)
c.726C>T (p.Ser242=)
c.708C>T (p.Ser236=)
 dbSNP gnomAD v2
3g.46898711_46898713delCA543041988PTH1Rc.688_690del (p.Phe230del)
n.708_710del
c.595_597del (p.Phe199del)
c.727_729del (p.Phe243del)
c.709_711del (p.Phe237del)
 dbSNP gnomAD v2 gnomAD v4
3g.46898711T>ACA352496425PTH1Rc.688T>A (p.Phe230Ile)
n.708T>A
c.595T>A (p.Phe199Ile)
c.727T>A (p.Phe243Ile)
c.709T>A (p.Phe237Ile)
3g.46898711T>CCA352496430PTH1Rc.688T>C (p.Phe230Leu)
n.708T>C
c.595T>C (p.Phe199Leu)
c.727T>C (p.Phe243Leu)
c.709T>C (p.Phe237Leu)
3g.46898711T>GCA352496436PTH1Rc.688T>G (p.Phe230Val)
n.708T>G
c.595T>G (p.Phe199Val)
c.727T>G (p.Phe243Val)
c.709T>G (p.Phe237Val)
3g.46898712T>ACA352496441PTH1Rc.689T>A (p.Phe230Tyr)
n.709T>A
c.596T>A (p.Phe199Tyr)
c.728T>A (p.Phe243Tyr)
c.710T>A (p.Phe237Tyr)
3g.46898712T>CCA352496444PTH1Rc.689T>C (p.Phe230Ser)
n.709T>C
c.596T>C (p.Phe199Ser)
c.728T>C (p.Phe243Ser)
c.710T>C (p.Phe237Ser)
 gnomAD v4
3g.46898712T>GCA352496446PTH1Rc.689T>G (p.Phe230Cys)
n.709T>G
c.596T>G (p.Phe199Cys)
c.728T>G (p.Phe243Cys)
c.710T>G (p.Phe237Cys)
 gnomAD v4
3g.46898713C>ACA352496449PTH1Rc.690C>A (p.Phe230Leu)
n.710C>A
c.597C>A (p.Phe199Leu)
c.729C>A (p.Phe243Leu)
c.711C>A (p.Phe237Leu)
 gnomAD v4
3g.46898713C=CA1362310861PTH1Rc.690C= (p.Phe230=)
n.710C=
c.597C= (p.Phe199=)
c.729C= (p.Phe243=)
c.711C= (p.Phe237=)
3g.46898713C>GCA352496452PTH1Rc.690C>G (p.Phe230Leu)
n.710C>G
c.597C>G (p.Phe199Leu)
c.729C>G (p.Phe243Leu)
c.711C>G (p.Phe237Leu)
 dbSNP gnomAD v2 gnomAD v4
3g.46898713C>TCA433471295PTH1Rc.690C>T (p.Phe230=)
n.710C>T
c.597C>T (p.Phe199=)
c.729C>T (p.Phe243=)
c.711C>T (p.Phe237=)
3g.46898714A=CA1362310864PTH1Rc.691A= (p.Met231=)
n.711A=
c.598A= (p.Met200=)
c.730A= (p.Met244=)
c.712A= (p.Met238=)
3g.46898714A>CCA352496457PTH1Rc.691A>C (p.Met231Leu)
n.711A>C
c.598A>C (p.Met200Leu)
c.730A>C (p.Met244Leu)
c.712A>C (p.Met238Leu)
3g.46898714A>GCA352496460PTH1Rc.691A>G (p.Met231Val)
n.711A>G
c.598A>G (p.Met200Val)
c.730A>G (p.Met244Val)
c.712A>G (p.Met238Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.46898714A>TCA352496463PTH1Rc.691A>T (p.Met231Leu)
n.711A>T
c.598A>T (p.Met200Leu)
c.730A>T (p.Met244Leu)
c.712A>T (p.Met238Leu)
3g.46898715T>ACA352496481PTH1Rc.692T>A (p.Met231Lys)
n.712T>A
c.599T>A (p.Met200Lys)
c.731T>A (p.Met244Lys)
c.713T>A (p.Met238Lys)
3g.46898715T>CCA352496477PTH1Rc.692T>C (p.Met231Thr)
n.712T>C
c.599T>C (p.Met200Thr)
c.731T>C (p.Met244Thr)
c.713T>C (p.Met238Thr)
3g.46898715T>GCA352496469PTH1Rc.692T>G (p.Met231Arg)
n.712T>G
c.599T>G (p.Met200Arg)
c.731T>G (p.Met244Arg)
c.713T>G (p.Met238Arg)
 gnomAD v4
3g.46898716G>ACA352496492PTH1Rc.693G>A (p.Met231Ile)
n.713G>A
c.600G>A (p.Met200Ile)
c.732G>A (p.Met244Ile)
c.714G>A (p.Met238Ile)
 ClinVar
3g.46898716G>CCA352496495PTH1Rc.693G>C (p.Met231Ile)
n.713G>C
c.600G>C (p.Met200Ile)
c.732G>C (p.Met244Ile)
c.714G>C (p.Met238Ile)
 dbSNP gnomAD v3 gnomAD v4
3g.46898716G=CA1362310868PTH1Rc.693G= (p.Met231=)
n.713G=
c.600G= (p.Met200=)
c.732G= (p.Met244=)
c.714G= (p.Met238=)
3g.46898716G>TCA352496504PTH1Rc.693G>T (p.Met231Ile)
n.713G>T
c.600G>T (p.Met200Ile)
c.732G>T (p.Met244Ile)
c.714G>T (p.Met238Ile)
3g.46898717C>ACA352496508PTH1Rc.694C>A (p.Leu232Met)
n.714C>A
c.601C>A (p.Leu201Met)
c.733C>A (p.Leu245Met)
c.715C>A (p.Leu239Met)
 gnomAD v4
3g.46898717C>GCA352496515PTH1Rc.694C>G (p.Leu232Val)
n.714C>G
c.601C>G (p.Leu201Val)
c.733C>G (p.Leu245Val)
c.715C>G (p.Leu239Val)
3g.46898717C>TCA433471316PTH1Rc.694C>T (p.Leu232=)
n.714C>T
c.601C>T (p.Leu201=)
c.733C>T (p.Leu245=)
c.715C>T (p.Leu239=)
3g.46898718T>ACA352496535PTH1Rc.695T>A (p.Leu232Gln)
n.715T>A
c.602T>A (p.Leu201Gln)
c.734T>A (p.Leu245Gln)
c.716T>A (p.Leu239Gln)
3g.46898718T>CCA352496530PTH1Rc.695T>C (p.Leu232Pro)
n.715T>C
c.602T>C (p.Leu201Pro)
c.734T>C (p.Leu245Pro)
c.716T>C (p.Leu239Pro)
3g.46898718T>GCA352496521PTH1Rc.695T>G (p.Leu232Arg)
n.715T>G
c.602T>G (p.Leu201Arg)
c.734T>G (p.Leu245Arg)
c.716T>G (p.Leu239Arg)
3g.46898719G>ACA433471323PTH1Rc.696G>A (p.Leu232=)
n.716G>A
c.603G>A (p.Leu201=)
c.735G>A (p.Leu245=)
c.717G>A (p.Leu239=)
 gnomAD v4
3g.46898719G>CCA433471325PTH1Rc.696G>C (p.Leu232=)
n.716G>C
c.603G>C (p.Leu201=)
c.735G>C (p.Leu245=)
c.717G>C (p.Leu239=)
3g.46898719G>TCA433471326PTH1Rc.696G>T (p.Leu232=)
n.716G>T
c.603G>T (p.Leu201=)
c.735G>T (p.Leu245=)
c.717G>T (p.Leu239=)
 gnomAD v4
3g.46898720C>ACA352496539PTH1Rc.697C>A (p.Arg233Ser)
n.717C>A
c.604C>A (p.Arg202Ser)
c.736C>A (p.Arg246Ser)
c.718C>A (p.Arg240Ser)
 gnomAD v4
3g.46898720C>GCA352496542PTH1Rc.697C>G (p.Arg233Gly)
n.717C>G
c.604C>G (p.Arg202Gly)
c.736C>G (p.Arg246Gly)
c.718C>G (p.Arg240Gly)
3g.46898720C>TCA352496546PTH1Rc.697C>T (p.Arg233Cys)
n.717C>T
c.604C>T (p.Arg202Cys)
c.736C>T (p.Arg246Cys)
c.718C>T (p.Arg240Cys)
 gnomAD v4
3g.46898721G>ACA352496550PTH1Rc.698G>A (p.Arg233His)
n.718G>A
c.605G>A (p.Arg202His)
c.737G>A (p.Arg246His)
c.719G>A (p.Arg240His)
3g.46898721G>CCA352496555PTH1Rc.698G>C (p.Arg233Pro)
n.718G>C
c.605G>C (p.Arg202Pro)
c.737G>C (p.Arg246Pro)
c.719G>C (p.Arg240Pro)
3g.46898721G>TCA352496559PTH1Rc.698G>T (p.Arg233Leu)
n.718G>T
c.605G>T (p.Arg202Leu)
c.737G>T (p.Arg246Leu)
c.719G>T (p.Arg240Leu)
3g.46898722C>ACA433471333PTH1Rc.699C>A (p.Arg233=)
n.719C>A
c.606C>A (p.Arg202=)
c.738C>A (p.Arg246=)
c.720C>A (p.Arg240=)
3g.46898722C>GCA433471335PTH1Rc.699C>G (p.Arg233=)
n.719C>G
c.606C>G (p.Arg202=)
c.738C>G (p.Arg246=)
c.720C>G (p.Arg240=)
3g.46898722C>TCA433471338PTH1Rc.699C>T (p.Arg233=)
n.719C>T
c.606C>T (p.Arg202=)
c.738C>T (p.Arg246=)
c.720C>T (p.Arg240=)
 gnomAD v4
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)

Number of alleles fetched