Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.46897914G>ACA352494322PTH1Rc.373G>A (p.Glu125Lys)
n.393G>A
c.280G>A (p.Glu94Lys)
c.412G>A (p.Glu138Lys)
c.394G>A (p.Glu132Lys)
dbSNP gnomAD v2
3g.46897914G>CCA352494324PTH1Rc.373G>C (p.Glu125Gln)
n.393G>C
c.280G>C (p.Glu94Gln)
c.412G>C (p.Glu138Gln)
c.394G>C (p.Glu132Gln)
COSMIC
3g.46897914G=CA1362309724PTH1Rc.373G= (p.Glu125=)
n.393G=
c.280G= (p.Glu94=)
c.412G= (p.Glu138=)
c.394G= (p.Glu132=)
3g.46897914G>TCA352494326PTH1Rc.373G>T (p.Glu125Ter)
n.393G>T
c.280G>T (p.Glu94Ter)
c.412G>T (p.Glu138Ter)
c.394G>T (p.Glu132Ter)
3g.46897915A>CCA352494330PTH1Rc.374A>C (p.Glu125Ala)
n.394A>C
c.281A>C (p.Glu94Ala)
c.413A>C (p.Glu138Ala)
c.395A>C (p.Glu132Ala)
gnomAD v4
3g.46897915A>GCA352494332PTH1Rc.374A>G (p.Glu125Gly)
n.394A>G
c.281A>G (p.Glu94Gly)
c.413A>G (p.Glu138Gly)
c.395A>G (p.Glu132Gly)
3g.46897915A>TCA352494335PTH1Rc.374A>T (p.Glu125Val)
n.394A>T
c.281A>T (p.Glu94Val)
c.413A>T (p.Glu138Val)
c.395A>T (p.Glu132Val)
3g.46897916G>ACA2359155PTH1Rc.375G>A (p.Glu125=)
n.395G>A
c.282G>A (p.Glu94=)
c.414G>A (p.Glu138=)
c.396G>A (p.Glu132=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46897916G>CCA352494339PTH1Rc.375G>C (p.Glu125Asp)
n.395G>C
c.282G>C (p.Glu94Asp)
c.414G>C (p.Glu138Asp)
c.396G>C (p.Glu132Asp)
3g.46897916G=CA1362309729PTH1Rc.375G= (p.Glu125=)
n.395G=
c.282G= (p.Glu94=)
c.414G= (p.Glu138=)
c.396G= (p.Glu132=)
3g.46897916G>TCA352494342PTH1Rc.375G>T (p.Glu125Asp)
n.395G>T
c.282G>T (p.Glu94Asp)
c.414G>T (p.Glu138Asp)
c.396G>T (p.Glu132Asp)
3g.46897917G>ACA352494345PTH1Rc.376G>A (p.Val126Met)
n.396G>A
c.283G>A (p.Val95Met)
c.415G>A (p.Val139Met)
c.397G>A (p.Val133Met)
gnomAD v4
3g.46897917G>CCA352494347PTH1Rc.376G>C (p.Val126Leu)
n.396G>C
c.283G>C (p.Val95Leu)
c.415G>C (p.Val139Leu)
c.397G>C (p.Val133Leu)
gnomAD v4
3g.46897917G>TCA352494350PTH1Rc.376G>T (p.Val126Leu)
n.396G>T
c.283G>T (p.Val95Leu)
c.415G>T (p.Val139Leu)
c.397G>T (p.Val133Leu)
gnomAD v4
3g.46897918T>ACA352494356PTH1Rc.377T>A (p.Val126Glu)
n.397T>A
c.284T>A (p.Val95Glu)
c.416T>A (p.Val139Glu)
c.398T>A (p.Val133Glu)
3g.46897918T>CCA352494354PTH1Rc.377T>C (p.Val126Ala)
n.397T>C
c.284T>C (p.Val95Ala)
c.416T>C (p.Val139Ala)
c.398T>C (p.Val133Ala)
3g.46897918T>GCA352494353PTH1Rc.377T>G (p.Val126Gly)
n.397T>G
c.284T>G (p.Val95Gly)
c.416T>G (p.Val139Gly)
c.398T>G (p.Val133Gly)
3g.46897919G>ACA433468953PTH1Rc.378G>A (p.Val126=)
n.398G>A
c.285G>A (p.Val95=)
c.417G>A (p.Val139=)
c.399G>A (p.Val133=)
3g.46897919G>CCA433468958PTH1Rc.378G>C (p.Val126=)
n.398G>C
c.285G>C (p.Val95=)
c.417G>C (p.Val139=)
c.399G>C (p.Val133=)
3g.46897919G>TCA433468960PTH1Rc.378G>T (p.Val126=)
n.398G>T
c.285G>T (p.Val95=)
c.417G>T (p.Val139=)
c.399G>T (p.Val133=)
3g.46897920G>ACA352494360PTH1Rc.379G>A (p.Val127Met)
n.399G>A
c.286G>A (p.Val96Met)
c.418G>A (p.Val140Met)
c.400G>A (p.Val134Met)
ClinVar
3g.46897920G>CCA352494362PTH1Rc.379G>C (p.Val127Leu)
n.399G>C
c.286G>C (p.Val96Leu)
c.418G>C (p.Val140Leu)
c.400G>C (p.Val134Leu)
3g.46897920G>TCA352494364PTH1Rc.379G>T (p.Val127Leu)
n.399G>T
c.286G>T (p.Val96Leu)
c.418G>T (p.Val140Leu)
c.400G>T (p.Val134Leu)
3g.46897921T>ACA352494368PTH1Rc.380T>A (p.Val127Glu)
n.400T>A
c.287T>A (p.Val96Glu)
c.419T>A (p.Val140Glu)
c.401T>A (p.Val134Glu)
ClinVar
3g.46897921T>CCA352494369PTH1Rc.380T>C (p.Val127Ala)
n.400T>C
c.287T>C (p.Val96Ala)
c.419T>C (p.Val140Ala)
c.401T>C (p.Val134Ala)
dbSNP gnomAD v2 gnomAD v4
3g.46897921T>GCA352494372PTH1Rc.380T>G (p.Val127Gly)
n.400T>G
c.287T>G (p.Val96Gly)
c.419T>G (p.Val140Gly)
c.401T>G (p.Val134Gly)
3g.46897921T=CA1362309733PTH1Rc.380T= (p.Val127=)
n.400T=
c.287T= (p.Val96=)
c.419T= (p.Val140=)
c.401T= (p.Val134=)
3g.46897922G>ACA433469000PTH1Rc.381G>A (p.Val127=)
n.401G>A
c.288G>A (p.Val96=)
c.420G>A (p.Val140=)
c.402G>A (p.Val134=)
3g.46897922G>CCA433469004PTH1Rc.381G>C (p.Val127=)
n.401G>C
c.288G>C (p.Val96=)
c.420G>C (p.Val140=)
c.402G>C (p.Val134=)
3g.46897922G>TCA433469005PTH1Rc.381G>T (p.Val127=)
n.401G>T
c.288G>T (p.Val96=)
c.420G>T (p.Val140=)
c.402G>T (p.Val134=)
3g.46897923G>ACA352494375PTH1Rc.382G>A (p.Ala128Thr)
n.402G>A
c.289G>A (p.Ala97Thr)
c.421G>A (p.Ala141Thr)
c.403G>A (p.Ala135Thr)
3g.46897923G>CCA352494377PTH1Rc.382G>C (p.Ala128Pro)
n.402G>C
c.289G>C (p.Ala97Pro)
c.421G>C (p.Ala141Pro)
c.403G>C (p.Ala135Pro)
3g.46897923G>TCA352494379PTH1Rc.382G>T (p.Ala128Ser)
n.402G>T
c.289G>T (p.Ala97Ser)
c.421G>T (p.Ala141Ser)
c.403G>T (p.Ala135Ser)
3g.46897924C>ACA352494383PTH1Rc.383C>A (p.Ala128Asp)
n.403C>A
c.290C>A (p.Ala97Asp)
c.422C>A (p.Ala141Asp)
c.404C>A (p.Ala135Asp)
3g.46897924C=CA1362309737PTH1Rc.383C= (p.Ala128=)
n.403C=
c.290C= (p.Ala97=)
c.422C= (p.Ala141=)
c.404C= (p.Ala135=)
3g.46897924C>GCA352494386PTH1Rc.383C>G (p.Ala128Gly)
n.403C>G
c.290C>G (p.Ala97Gly)
c.422C>G (p.Ala141Gly)
c.404C>G (p.Ala135Gly)
3g.46897924C>TCA73768867PTH1Rc.383C>T (p.Ala128Val)
n.403C>T
c.290C>T (p.Ala97Val)
c.422C>T (p.Ala141Val)
c.404C>T (p.Ala135Val)
dbSNP gnomAD v3 gnomAD v4
3g.46897925T>ACA433469033PTH1Rc.384T>A (p.Ala128=)
n.404T>A
c.291T>A (p.Ala97=)
c.423T>A (p.Ala141=)
c.405T>A (p.Ala135=)
3g.46897925T>CCA433469038PTH1Rc.384T>C (p.Ala128=)
n.404T>C
c.291T>C (p.Ala97=)
c.423T>C (p.Ala141=)
c.405T>C (p.Ala135=)
3g.46897925T>GCA433469042PTH1Rc.384T>G (p.Ala128=)
n.404T>G
c.291T>G (p.Ala97=)
c.423T>G (p.Ala141=)
c.405T>G (p.Ala135=)
3g.46897926G>ACA352494391PTH1Rc.385G>A (p.Val129Met)
n.405G>A
c.292G>A (p.Val98Met)
c.424G>A (p.Val142Met)
c.406G>A (p.Val136Met)
3g.46897926G>CCA352494395PTH1Rc.385G>C (p.Val129Leu)
n.405G>C
c.292G>C (p.Val98Leu)
c.424G>C (p.Val142Leu)
c.406G>C (p.Val136Leu)
3g.46897926G>TCA352494393PTH1Rc.385G>T (p.Val129Leu)
n.405G>T
c.292G>T (p.Val98Leu)
c.424G>T (p.Val142Leu)
c.406G>T (p.Val136Leu)
3g.46897927T>ACA352494398PTH1Rc.386T>A (p.Val129Glu)
n.406T>A
c.293T>A (p.Val98Glu)
c.425T>A (p.Val142Glu)
c.407T>A (p.Val136Glu)
3g.46897927T>CCA352494403PTH1Rc.386T>C (p.Val129Ala)
n.406T>C
c.293T>C (p.Val98Ala)
c.425T>C (p.Val142Ala)
c.407T>C (p.Val136Ala)
3g.46897927T>GCA352494401PTH1Rc.386T>G (p.Val129Gly)
n.406T>G
c.293T>G (p.Val98Gly)
c.425T>G (p.Val142Gly)
c.407T>G (p.Val136Gly)
3g.46897928G>ACA433469061PTH1Rc.387G>A (p.Val129=)
n.407G>A
c.294G>A (p.Val98=)
c.426G>A (p.Val142=)
c.408G>A (p.Val136=)
3g.46897928G>CCA433469062PTH1Rc.387G>C (p.Val129=)
n.407G>C
c.294G>C (p.Val98=)
c.426G>C (p.Val142=)
c.408G>C (p.Val136=)
dbSNP gnomAD v2 gnomAD v4
3g.46897928G=CA1362309740PTH1Rc.387G= (p.Val129=)
n.407G=
c.294G= (p.Val98=)
c.426G= (p.Val142=)
c.408G= (p.Val136=)
3g.46897928G>TCA433469063PTH1Rc.387G>T (p.Val129=)
n.407G>T
c.294G>T (p.Val98=)
c.426G>T (p.Val142=)
c.408G>T (p.Val136=)
3g.46897929C>ACA352494407PTH1Rc.388C>A (p.Pro130Thr)
n.408C>A
c.295C>A (p.Pro99Thr)
c.427C>A (p.Pro143Thr)
c.409C>A (p.Pro137Thr)
3g.46897929C=CA1362309743PTH1Rc.388C= (p.Pro130=)
n.408C=
c.295C= (p.Pro99=)
c.427C= (p.Pro143=)
c.409C= (p.Pro137=)
3g.46897929C>GCA352494411PTH1Rc.388C>G (p.Pro130Ala)
n.408C>G
c.295C>G (p.Pro99Ala)
c.427C>G (p.Pro143Ala)
c.409C>G (p.Pro137Ala)
3g.46897929C>TCA2359156PTH1Rc.388C>T (p.Pro130Ser)
n.408C>T
c.295C>T (p.Pro99Ser)
c.427C>T (p.Pro143Ser)
c.409C>T (p.Pro137Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46897930C>ACA352494414PTH1Rc.389C>A (p.Pro130His)
n.409C>A
c.296C>A (p.Pro99His)
c.428C>A (p.Pro143His)
c.410C>A (p.Pro137His)
3g.46897930C=CA1362309747PTH1Rc.389C= (p.Pro130=)
n.409C=
c.296C= (p.Pro99=)
c.428C= (p.Pro143=)
c.410C= (p.Pro137=)
3g.46897930C>GCA352494416PTH1Rc.389C>G (p.Pro130Arg)
n.409C>G
c.296C>G (p.Pro99Arg)
c.428C>G (p.Pro143Arg)
c.410C>G (p.Pro137Arg)
3g.46897930C>TCA2359157PTH1Rc.389C>T (p.Pro130Leu)
n.409C>T
c.296C>T (p.Pro99Leu)
c.428C>T (p.Pro143Leu)
c.410C>T (p.Pro137Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.46897931C>ACA433469082PTH1Rc.390C>A (p.Pro130=)
n.410C>A
c.297C>A (p.Pro99=)
c.429C>A (p.Pro143=)
c.411C>A (p.Pro137=)
3g.46897931C>GCA433469085PTH1Rc.390C>G (p.Pro130=)
n.410C>G
c.297C>G (p.Pro99=)
c.429C>G (p.Pro143=)
c.411C>G (p.Pro137=)
3g.46897931C>TCA433469076PTH1Rc.390C>T (p.Pro130=)
n.410C>T
c.297C>T (p.Pro99=)
c.429C>T (p.Pro143=)
c.411C>T (p.Pro137=)
COSMIC
3g.46897932T>ACA352494421PTH1Rc.391T>A (p.Cys131Ser)
n.411T>A
c.298T>A (p.Cys100Ser)
c.430T>A (p.Cys144Ser)
c.412T>A (p.Cys138Ser)
3g.46897932T>CCA352494424PTH1Rc.391T>C (p.Cys131Arg)
n.411T>C
c.298T>C (p.Cys100Arg)
c.430T>C (p.Cys144Arg)
c.412T>C (p.Cys138Arg)
3g.46897932T>GCA352494427PTH1Rc.391T>G (p.Cys131Gly)
n.411T>G
c.298T>G (p.Cys100Gly)
c.430T>G (p.Cys144Gly)
c.412T>G (p.Cys138Gly)
3g.46897933G>ACA352494449PTH1Rc.392G>A (p.Cys131Tyr)
n.412G>A
c.299G>A (p.Cys100Tyr)
c.431G>A (p.Cys144Tyr)
c.413G>A (p.Cys138Tyr)
3g.46897933G>CCA352494431PTH1Rc.392G>C (p.Cys131Ser)
n.412G>C
c.299G>C (p.Cys100Ser)
c.431G>C (p.Cys144Ser)
c.413G>C (p.Cys138Ser)
3g.46897933G>TCA352494447PTH1Rc.392G>T (p.Cys131Phe)
n.412G>T
c.299G>T (p.Cys100Phe)
c.431G>T (p.Cys144Phe)
c.413G>T (p.Cys138Phe)
3g.46897934T>ACA352494452PTH1Rc.393T>A (p.Cys131Ter)
n.413T>A
c.300T>A (p.Cys100Ter)
c.432T>A (p.Cys144Ter)
c.414T>A (p.Cys138Ter)
3g.46897934T>CCA433469122PTH1Rc.393T>C (p.Cys131=)
n.413T>C
c.300T>C (p.Cys100=)
c.432T>C (p.Cys144=)
c.414T>C (p.Cys138=)
3g.46897934T>GCA352494453PTH1Rc.393T>G (p.Cys131Trp)
n.413T>G
c.300T>G (p.Cys100Trp)
c.432T>G (p.Cys144Trp)
c.414T>G (p.Cys138Trp)
3g.46897935C>ACA352494456PTH1Rc.394C>A (p.Pro132Thr)
n.414C>A
c.301C>A (p.Pro101Thr)
c.433C>A (p.Pro145Thr)
c.415C>A (p.Pro139Thr)
3g.46897935C=CA1362309752PTH1Rc.394C= (p.Pro132=)
n.414C=
c.301C= (p.Pro101=)
c.433C= (p.Pro145=)
c.415C= (p.Pro139=)
3g.46897935C>GCA352494459PTH1Rc.394C>G (p.Pro132Ala)
n.414C>G
c.301C>G (p.Pro101Ala)
c.433C>G (p.Pro145Ala)
c.415C>G (p.Pro139Ala)
3g.46897935C>TCA73768884PTH1Rc.394C>T (p.Pro132Ser)
n.414C>T
c.301C>T (p.Pro101Ser)
c.433C>T (p.Pro145Ser)
c.415C>T (p.Pro139Ser)
dbSNP
3g.46897936C>ACA352494468PTH1Rc.395C>A (p.Pro132Gln)
n.415C>A
c.302C>A (p.Pro101Gln)
c.434C>A (p.Pro145Gln)
c.416C>A (p.Pro139Gln)
3g.46897936C=CA1362309760PTH1Rc.395C= (p.Pro132=)
n.415C=
c.302C= (p.Pro101=)
c.434C= (p.Pro145=)
c.416C= (p.Pro139=)
3g.46897936C>GCA352494464PTH1Rc.395C>G (p.Pro132Arg)
n.415C>G
c.302C>G (p.Pro101Arg)
c.434C>G (p.Pro145Arg)
c.416C>G (p.Pro139Arg)
ClinVar dbSNP
3g.46897936C>TCA123425PTH1Rc.395C>T (p.Pro132Leu)
n.415C>T
c.302C>T (p.Pro101Leu)
c.434C>T (p.Pro145Leu)
c.416C>T (p.Pro139Leu)
ClinVar dbSNP gnomAD v4
3g.46897937G>ACA2359158PTH1Rc.396G>A (p.Pro132=)
n.416G>A
c.303G>A (p.Pro101=)
c.435G>A (p.Pro145=)
c.417G>A (p.Pro139=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46897937G>CCA433469157PTH1Rc.396G>C (p.Pro132=)
n.416G>C
c.303G>C (p.Pro101=)
c.435G>C (p.Pro145=)
c.417G>C (p.Pro139=)
3g.46897937G=CA1362309766PTH1Rc.396G= (p.Pro132=)
n.416G=
c.303G= (p.Pro101=)
c.435G= (p.Pro145=)
c.417G= (p.Pro139=)
3g.46897937G>TCA433469154PTH1Rc.396G>T (p.Pro132=)
n.416G>T
c.303G>T (p.Pro101=)
c.435G>T (p.Pro145=)
c.417G>T (p.Pro139=)
gnomAD v4
3g.46897938G>ACA73768896PTH1Rc.397G>A (p.Asp133Asn)
n.417G>A
c.304G>A (p.Asp102Asn)
c.436G>A (p.Asp146Asn)
c.418G>A (p.Asp140Asn)
dbSNP gnomAD v4
3g.46897938G>CCA352494475PTH1Rc.397G>C (p.Asp133His)
n.417G>C
c.304G>C (p.Asp102His)
c.436G>C (p.Asp146His)
c.418G>C (p.Asp140His)
3g.46897938G=CA1362309771PTH1Rc.397G= (p.Asp133=)
n.417G=
c.304G= (p.Asp102=)
c.436G= (p.Asp146=)
c.418G= (p.Asp140=)
3g.46897938G>TCA352494480PTH1Rc.397G>T (p.Asp133Tyr)
n.417G>T
c.304G>T (p.Asp102Tyr)
c.436G>T (p.Asp146Tyr)
c.418G>T (p.Asp140Tyr)
dbSNP gnomAD v3 gnomAD v4
3g.46897939A=CA1362309776PTH1Rc.398A= (p.Asp133=)
n.418A=
c.305A= (p.Asp102=)
c.437A= (p.Asp146=)
c.419A= (p.Asp140=)
3g.46897939A>CCA2359159PTH1Rc.398A>C (p.Asp133Ala)
n.418A>C
c.305A>C (p.Asp102Ala)
c.437A>C (p.Asp146Ala)
c.419A>C (p.Asp140Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.46897939A>GCA352494488PTH1Rc.398A>G (p.Asp133Gly)
n.418A>G
c.305A>G (p.Asp102Gly)
c.437A>G (p.Asp146Gly)
c.419A>G (p.Asp140Gly)
COSMIC
3g.46897939A>TCA73768901PTH1Rc.398A>T (p.Asp133Val)
n.418A>T
c.305A>T (p.Asp102Val)
c.437A>T (p.Asp146Val)
c.419A>T (p.Asp140Val)
dbSNP
3g.46897940C>ACA352494495PTH1Rc.399C>A (p.Asp133Glu)
n.419C>A
c.306C>A (p.Asp102Glu)
c.438C>A (p.Asp146Glu)
c.420C>A (p.Asp140Glu)
3g.46897940C>GCA352494498PTH1Rc.399C>G (p.Asp133Glu)
n.419C>G
c.306C>G (p.Asp102Glu)
c.438C>G (p.Asp146Glu)
c.420C>G (p.Asp140Glu)
3g.46897940C>TCA433469201PTH1Rc.399C>T (p.Asp133=)
n.419C>T
c.306C>T (p.Asp102=)
c.438C>T (p.Asp146=)
c.420C>T (p.Asp140=)
3g.46897941T>ACA352494505PTH1Rc.400T>A (p.Tyr134Asn)
n.420T>A
c.307T>A (p.Tyr103Asn)
c.439T>A (p.Tyr147Asn)
c.421T>A (p.Tyr141Asn)
3g.46897941T>CCA352494509PTH1Rc.400T>C (p.Tyr134His)
n.420T>C
c.307T>C (p.Tyr103His)
c.439T>C (p.Tyr147His)
c.421T>C (p.Tyr141His)
gnomAD v4
3g.46897941T>GCA2359160PTH1Rc.400T>G (p.Tyr134Asp)
n.420T>G
c.307T>G (p.Tyr103Asp)
c.439T>G (p.Tyr147Asp)
c.421T>G (p.Tyr141Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.46897941T=CA1362309780PTH1Rc.400T= (p.Tyr134=)
n.420T=
c.307T= (p.Tyr103=)
c.439T= (p.Tyr147=)
c.421T= (p.Tyr141=)
3g.46897942A=CA1362309789PTH1Rc.401A= (p.Tyr134=)
n.421A=
c.308A= (p.Tyr103=)
c.440A= (p.Tyr147=)
c.422A= (p.Tyr141=)
3g.46897942A>CCA352494568PTH1Rc.401A>C (p.Tyr134Ser)
n.421A>C
c.308A>C (p.Tyr103Ser)
c.440A>C (p.Tyr147Ser)
c.422A>C (p.Tyr141Ser)
ClinVar dbSNP
3g.46897942A>GCA352494516PTH1Rc.401A>G (p.Tyr134Cys)
n.421A>G
c.308A>G (p.Tyr103Cys)
c.440A>G (p.Tyr147Cys)
c.422A>G (p.Tyr141Cys)
3g.46897942A>TCA352494519PTH1Rc.401A>T (p.Tyr134Phe)
n.421A>T
c.308A>T (p.Tyr103Phe)
c.440A>T (p.Tyr147Phe)
c.422A>T (p.Tyr141Phe)
gnomAD v4
3g.46897943C>ACA352494573PTH1Rc.402C>A (p.Tyr134Ter)
n.422C>A
c.309C>A (p.Tyr103Ter)
c.441C>A (p.Tyr147Ter)
c.423C>A (p.Tyr141Ter)
3g.46897943C>GCA352494575PTH1Rc.402C>G (p.Tyr134Ter)
n.422C>G
c.309C>G (p.Tyr103Ter)
c.441C>G (p.Tyr147Ter)
c.423C>G (p.Tyr141Ter)
dbSNP
3g.46897943C>TCA433469249PTH1Rc.402C>T (p.Tyr134=)
n.422C>T
c.309C>T (p.Tyr103=)
c.441C>T (p.Tyr147=)
c.423C>T (p.Tyr141=)
3g.46897944A>CCA352494579PTH1Rc.403A>C (p.Ile135Leu)
n.423A>C
c.310A>C (p.Ile104Leu)
c.442A>C (p.Ile148Leu)
c.424A>C (p.Ile142Leu)
3g.46897944A>GCA352494581PTH1Rc.403A>G (p.Ile135Val)
n.423A>G
c.310A>G (p.Ile104Val)
c.442A>G (p.Ile148Val)
c.424A>G (p.Ile142Val)
3g.46897944A>TCA352494584PTH1Rc.403A>T (p.Ile135Phe)
n.423A>T
c.310A>T (p.Ile104Phe)
c.442A>T (p.Ile148Phe)
c.424A>T (p.Ile142Phe)
3g.46897945T>ACA2359161PTH1Rc.404T>A (p.Ile135Asn)
n.424T>A
c.311T>A (p.Ile104Asn)
c.443T>A (p.Ile148Asn)
c.425T>A (p.Ile142Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.46897945T>CCA352494592PTH1Rc.404T>C (p.Ile135Thr)
n.424T>C
c.311T>C (p.Ile104Thr)
c.443T>C (p.Ile148Thr)
c.425T>C (p.Ile142Thr)
3g.46897945T>GCA352494596PTH1Rc.404T>G (p.Ile135Ser)
n.424T>G
c.311T>G (p.Ile104Ser)
c.443T>G (p.Ile148Ser)
c.425T>G (p.Ile142Ser)
3g.46897945T=CA1362309793PTH1Rc.404T= (p.Ile135=)
n.424T=
c.311T= (p.Ile104=)
c.443T= (p.Ile148=)
c.425T= (p.Ile142=)
3g.46897946T>ACA433469291PTH1Rc.405T>A (p.Ile135=)
n.425T>A
c.312T>A (p.Ile104=)
c.444T>A (p.Ile148=)
c.426T>A (p.Ile142=)
3g.46897946T>CCA433469297PTH1Rc.405T>C (p.Ile135=)
n.425T>C
c.312T>C (p.Ile104=)
c.444T>C (p.Ile148=)
c.426T>C (p.Ile142=)
3g.46897946T>GCA352494606PTH1Rc.405T>G (p.Ile135Met)
n.425T>G
c.312T>G (p.Ile104Met)
c.444T>G (p.Ile148Met)
c.426T>G (p.Ile142Met)
3g.46897947T>ACA352494610PTH1Rc.406T>A (p.Tyr136Asn)
n.426T>A
c.313T>A (p.Tyr105Asn)
c.445T>A (p.Tyr149Asn)
c.427T>A (p.Tyr143Asn)
gnomAD v4
3g.46897947T>CCA352494611PTH1Rc.406T>C (p.Tyr136His)
n.426T>C
c.313T>C (p.Tyr105His)
c.445T>C (p.Tyr149His)
c.427T>C (p.Tyr143His)
3g.46897947T>GCA352494612PTH1Rc.406T>G (p.Tyr136Asp)
n.426T>G
c.313T>G (p.Tyr105Asp)
c.445T>G (p.Tyr149Asp)
c.427T>G (p.Tyr143Asp)
3g.46897948A>CCA352494622PTH1Rc.407A>C (p.Tyr136Ser)
n.427A>C
c.314A>C (p.Tyr105Ser)
c.446A>C (p.Tyr149Ser)
c.428A>C (p.Tyr143Ser)
3g.46897948A>GCA352494619PTH1Rc.407A>G (p.Tyr136Cys)
n.427A>G
c.314A>G (p.Tyr105Cys)
c.446A>G (p.Tyr149Cys)
c.428A>G (p.Tyr143Cys)
3g.46897948A>TCA352494615PTH1Rc.407A>T (p.Tyr136Phe)
n.427A>T
c.314A>T (p.Tyr105Phe)
c.446A>T (p.Tyr149Phe)
c.428A>T (p.Tyr143Phe)
3g.46897949T>ACA352494625PTH1Rc.408T>A (p.Tyr136Ter)
n.428T>A
c.315T>A (p.Tyr105Ter)
c.447T>A (p.Tyr149Ter)
c.429T>A (p.Tyr143Ter)
3g.46897949T>CCA433469357PTH1Rc.408T>C (p.Tyr136=)
n.428T>C
c.315T>C (p.Tyr105=)
c.447T>C (p.Tyr149=)
c.429T>C (p.Tyr143=)
ClinVar dbSNP
3g.46897949T>GCA352494628PTH1Rc.408T>G (p.Tyr136Ter)
n.428T>G
c.315T>G (p.Tyr105Ter)
c.447T>G (p.Tyr149Ter)
c.429T>G (p.Tyr143Ter)
3g.46897949T=CA1362309797PTH1Rc.408T= (p.Tyr136=)
n.428T=
c.315T= (p.Tyr105=)
c.447T= (p.Tyr149=)
c.429T= (p.Tyr143=)
3g.46897950G>ACA352494632PTH1Rc.409G>A (p.Asp137Asn)
n.429G>A
c.316G>A (p.Asp106Asn)
c.448G>A (p.Asp150Asn)
c.430G>A (p.Asp144Asn)
3g.46897950G>CCA352494634PTH1Rc.409G>C (p.Asp137His)
n.429G>C
c.316G>C (p.Asp106His)
c.448G>C (p.Asp150His)
c.430G>C (p.Asp144His)
3g.46897950G>TCA352494639PTH1Rc.409G>T (p.Asp137Tyr)
n.429G>T
c.316G>T (p.Asp106Tyr)
c.448G>T (p.Asp150Tyr)
c.430G>T (p.Asp144Tyr)
3g.46897951A>CCA352494645PTH1Rc.410A>C (p.Asp137Ala)
n.430A>C
c.317A>C (p.Asp106Ala)
c.449A>C (p.Asp150Ala)
c.431A>C (p.Asp144Ala)
3g.46897951A>GCA352494647PTH1Rc.410A>G (p.Asp137Gly)
n.430A>G
c.317A>G (p.Asp106Gly)
c.449A>G (p.Asp150Gly)
c.431A>G (p.Asp144Gly)
3g.46897951A>TCA352494650PTH1Rc.410A>T (p.Asp137Val)
n.430A>T
c.317A>T (p.Asp106Val)
c.449A>T (p.Asp150Val)
c.431A>T (p.Asp144Val)
3g.46897952C>ACA352494655PTH1Rc.411C>A (p.Asp137Glu)
n.431C>A
c.318C>A (p.Asp106Glu)
c.450C>A (p.Asp150Glu)
c.432C>A (p.Asp144Glu)
3g.46897952C>GCA352494657PTH1Rc.411C>G (p.Asp137Glu)
n.431C>G
c.318C>G (p.Asp106Glu)
c.450C>G (p.Asp150Glu)
c.432C>G (p.Asp144Glu)
3g.46897952C>TCA433469382PTH1Rc.411C>T (p.Asp137=)
n.431C>T
c.318C>T (p.Asp106=)
c.450C>T (p.Asp150=)
c.432C>T (p.Asp144=)
gnomAD v4
3g.46897953T>ACA352494662PTH1Rc.412T>A (p.Phe138Ile)
n.432T>A
c.319T>A (p.Phe107Ile)
c.451T>A (p.Phe151Ile)
c.433T>A (p.Phe145Ile)
3g.46897953T>CCA352494666PTH1Rc.412T>C (p.Phe138Leu)
n.432T>C
c.319T>C (p.Phe107Leu)
c.451T>C (p.Phe151Leu)
c.433T>C (p.Phe145Leu)
3g.46897953T>GCA352494669PTH1Rc.412T>G (p.Phe138Val)
n.432T>G
c.319T>G (p.Phe107Val)
c.451T>G (p.Phe151Val)
c.433T>G (p.Phe145Val)
3g.46897954T>ACA352494676PTH1Rc.413T>A (p.Phe138Tyr)
n.433T>A
c.320T>A (p.Phe107Tyr)
c.452T>A (p.Phe151Tyr)
c.434T>A (p.Phe145Tyr)
3g.46897954T>CCA352494679PTH1Rc.413T>C (p.Phe138Ser)
n.433T>C
c.320T>C (p.Phe107Ser)
c.452T>C (p.Phe151Ser)
c.434T>C (p.Phe145Ser)
3g.46897954T>GCA352494673PTH1Rc.413T>G (p.Phe138Cys)
n.433T>G
c.320T>G (p.Phe107Cys)
c.452T>G (p.Phe151Cys)
c.434T>G (p.Phe145Cys)
3g.46897955C>ACA352494681PTH1Rc.414C>A (p.Phe138Leu)
n.434C>A
c.321C>A (p.Phe107Leu)
c.453C>A (p.Phe151Leu)
c.435C>A (p.Phe145Leu)
3g.46897955C>GCA352494693PTH1Rc.414C>G (p.Phe138Leu)
n.434C>G
c.321C>G (p.Phe107Leu)
c.453C>G (p.Phe151Leu)
c.435C>G (p.Phe145Leu)
3g.46897955C>TCA433469412PTH1Rc.414C>T (p.Phe138=)
n.434C>T
c.321C>T (p.Phe107=)
c.453C>T (p.Phe151=)
c.435C>T (p.Phe145=)
3g.46897956A>CCA352494701PTH1Rc.415A>C (p.Asn139His)
n.435A>C
c.322A>C (p.Asn108His)
c.454A>C (p.Asn152His)
c.436A>C (p.Asn146His)
3g.46897956A>GCA352494705PTH1Rc.415A>G (p.Asn139Asp)
n.435A>G
c.322A>G (p.Asn108Asp)
c.454A>G (p.Asn152Asp)
c.436A>G (p.Asn146Asp)
3g.46897956A>TCA352494709PTH1Rc.415A>T (p.Asn139Tyr)
n.435A>T
c.322A>T (p.Asn108Tyr)
c.454A>T (p.Asn152Tyr)
c.436A>T (p.Asn146Tyr)
3g.46897957A=CA1362309800PTH1Rc.416A= (p.Asn139=)
n.436A=
c.323A= (p.Asn108=)
c.455A= (p.Asn152=)
c.437A= (p.Asn146=)
3g.46897957A>CCA352494712PTH1Rc.416A>C (p.Asn139Thr)
n.436A>C
c.323A>C (p.Asn108Thr)
c.455A>C (p.Asn152Thr)
c.437A>C (p.Asn146Thr)
3g.46897957A>GCA352494716PTH1Rc.416A>G (p.Asn139Ser)
n.436A>G
c.323A>G (p.Asn108Ser)
c.455A>G (p.Asn152Ser)
c.437A>G (p.Asn146Ser)
ClinVar dbSNP
3g.46897957A>TCA352494719PTH1Rc.416A>T (p.Asn139Ile)
n.436A>T
c.323A>T (p.Asn108Ile)
c.455A>T (p.Asn152Ile)
c.437A>T (p.Asn146Ile)
3g.46897958T>ACA352494722PTH1Rc.417T>A (p.Asn139Lys)
n.437T>A
c.324T>A (p.Asn108Lys)
c.456T>A (p.Asn152Lys)
c.438T>A (p.Asn146Lys)
3g.46897958T>CCA433469434PTH1Rc.417T>C (p.Asn139=)
n.437T>C
c.324T>C (p.Asn108=)
c.456T>C (p.Asn152=)
c.438T>C (p.Asn146=)
3g.46897958T>GCA352494724PTH1Rc.417T>G (p.Asn139Lys)
n.437T>G
c.324T>G (p.Asn108Lys)
c.456T>G (p.Asn152Lys)
c.438T>G (p.Asn146Lys)
3g.46897959C>ACA352494728PTH1Rc.418C>A (p.His140Asn)
n.438C>A
c.325C>A (p.His109Asn)
c.457C>A (p.His153Asn)
c.439C>A (p.His147Asn)
3g.46897959C>GCA352494729PTH1Rc.418C>G (p.His140Asp)
n.438C>G
c.325C>G (p.His109Asp)
c.457C>G (p.His153Asp)
c.439C>G (p.His147Asp)
gnomAD v4
3g.46897959C>TCA352494730PTH1Rc.418C>T (p.His140Tyr)
n.438C>T
c.325C>T (p.His109Tyr)
c.457C>T (p.His153Tyr)
c.439C>T (p.His147Tyr)
3g.46897960A=CA1362309803PTH1Rc.419A= (p.His140=)
n.439A=
c.326A= (p.His109=)
c.458A= (p.His153=)
c.440A= (p.His147=)
3g.46897960A>CCA352494741PTH1Rc.419A>C (p.His140Pro)
n.439A>C
c.326A>C (p.His109Pro)
c.458A>C (p.His153Pro)
c.440A>C (p.His147Pro)
3g.46897960A>GCA352494738PTH1Rc.419A>G (p.His140Arg)
n.439A>G
c.326A>G (p.His109Arg)
c.458A>G (p.His153Arg)
c.440A>G (p.His147Arg)
3g.46897960A>TCA352494733PTH1Rc.419A>T (p.His140Leu)
n.439A>T
c.326A>T (p.His109Leu)
c.458A>T (p.His153Leu)
c.440A>T (p.His147Leu)
dbSNP gnomAD v4
3g.46897961C>ACA352494742PTH1Rc.420C>A (p.His140Gln)
n.440C>A
c.327C>A (p.His109Gln)
c.459C>A (p.His153Gln)
c.441C>A (p.His147Gln)
3g.46897961C>GCA352494743PTH1Rc.420C>G (p.His140Gln)
n.440C>G
c.327C>G (p.His109Gln)
c.459C>G (p.His153Gln)
c.441C>G (p.His147Gln)
3g.46897961C>TCA433469470PTH1Rc.420C>T (p.His140=)
n.440C>T
c.327C>T (p.His109=)
c.459C>T (p.His153=)
c.441C>T (p.His147=)
3g.46897962A=CA1362309807PTH1Rc.421A= (p.Lys141=)
n.441A=
c.328A= (p.Lys110=)
c.460A= (p.Lys154=)
c.442A= (p.Lys148=)
3g.46897962A>CCA352494744PTH1Rc.421A>C (p.Lys141Gln)
n.441A>C
c.328A>C (p.Lys110Gln)
c.460A>C (p.Lys154Gln)
c.442A>C (p.Lys148Gln)
3g.46897962A>GCA352494746PTH1Rc.421A>G (p.Lys141Glu)
n.441A>G
c.328A>G (p.Lys110Glu)
c.460A>G (p.Lys154Glu)
c.442A>G (p.Lys148Glu)
dbSNP
3g.46897962A>TCA352494749PTH1Rc.421A>T (p.Lys141Ter)
n.441A>T
c.328A>T (p.Lys110Ter)
c.460A>T (p.Lys154Ter)
c.442A>T (p.Lys148Ter)
3g.46897963A>CCA352494752PTH1Rc.422A>C (p.Lys141Thr)
n.442A>C
c.329A>C (p.Lys110Thr)
c.461A>C (p.Lys154Thr)
c.443A>C (p.Lys148Thr)
3g.46897963A>GCA352494753PTH1Rc.422A>G (p.Lys141Arg)
n.442A>G
c.329A>G (p.Lys110Arg)
c.461A>G (p.Lys154Arg)
c.443A>G (p.Lys148Arg)
gnomAD v4
3g.46897963A>TCA352494754PTH1Rc.422A>T (p.Lys141Ile)
n.442A>T
c.329A>T (p.Lys110Ile)
c.461A>T (p.Lys154Ile)
c.443A>T (p.Lys148Ile)
3g.46897964A>CCA352494756PTH1Rc.423A>C (p.Lys141Asn)
n.443A>C
c.330A>C (p.Lys110Asn)
c.462A>C (p.Lys154Asn)
c.444A>C (p.Lys148Asn)
3g.46897964A>GCA433469489PTH1Rc.423A>G (p.Lys141=)
n.443A>G
c.330A>G (p.Lys110=)
c.462A>G (p.Lys154=)
c.444A>G (p.Lys148=)
3g.46897964A>TCA352494759PTH1Rc.423A>T (p.Lys141Asn)
n.443A>T
c.330A>T (p.Lys110Asn)
c.462A>T (p.Lys154Asn)
c.444A>T (p.Lys148Asn)
3g.46897965G>ACA352494763PTH1Rc.424G>A (p.Gly142Ser)
n.444G>A
c.331G>A (p.Gly111Ser)
c.463G>A (p.Gly155Ser)
c.445G>A (p.Gly149Ser)
gnomAD v4
3g.46897965G>CCA352494766PTH1Rc.424G>C (p.Gly142Arg)
n.444G>C
c.331G>C (p.Gly111Arg)
c.463G>C (p.Gly155Arg)
c.445G>C (p.Gly149Arg)
3g.46897965G>TCA352494768PTH1Rc.424G>T (p.Gly142Cys)
n.444G>T
c.331G>T (p.Gly111Cys)
c.463G>T (p.Gly155Cys)
c.445G>T (p.Gly149Cys)
3g.46897966G>ACA352494780PTH1Rc.424+1G>A (n.424+1G>A)
n.444+1G>A
c.331+1G>A (n.331+1G>A)
c.463+1G>A (n.463+1G>A)
c.445+1G>A (n.445+1G>A)
gnomAD v4
3g.46897966G>CCA73768922PTH1Rc.424+1G>C (n.424+1G>C)
n.444+1G>C
c.331+1G>C (n.331+1G>C)
c.463+1G>C (n.463+1G>C)
c.445+1G>C (n.445+1G>C)
dbSNP
3g.46897966G=CA1362309808PTH1Rc.424+1G= (n.424+1G=)
n.444+1G=
c.331+1G= (n.331+1G=)
c.463+1G= (n.463+1G=)
c.445+1G= (n.445+1G=)
3g.46897966G>TCA352494772PTH1Rc.424+1G>T (n.424+1G>T)
n.444+1G>T
c.331+1G>T (n.331+1G>T)
c.463+1G>T (n.463+1G>T)
c.445+1G>T (n.445+1G>T)
gnomAD v4
3g.46897967T>ACA352494789PTH1Rc.424+2T>A (n.424+2T>A)
n.444+2T>A
c.331+2T>A (n.331+2T>A)
c.463+2T>A (n.463+2T>A)
c.445+2T>A (n.445+2T>A)
3g.46897967T>CCA352494792PTH1Rc.424+2T>C (n.424+2T>C)
n.444+2T>C
c.331+2T>C (n.331+2T>C)
c.463+2T>C (n.463+2T>C)
c.445+2T>C (n.445+2T>C)
3g.46897967T>GCA352494793PTH1Rc.424+2T>G (n.424+2T>G)
n.444+2T>G
c.331+2T>G (n.331+2T>G)
c.463+2T>G (n.463+2T>G)
c.445+2T>G (n.445+2T>G)
3g.46897968delCA2702682364PTH1Rc.424+3del (n.424+3del)
n.444+3del
c.331+3del (n.331+3del)
c.463+3del (n.463+3del)
c.445+3del (n.445+3del)
dbSNP
3g.46897968G>ACA907619367PTH1Rc.424+3G>A (n.424+3G>A)
n.444+3G>A
c.331+3G>A (n.331+3G>A)
c.463+3G>A (n.463+3G>A)
c.445+3G>A (n.445+3G>A)
dbSNP
3g.46897968G=CA1362309811PTH1Rc.424+3G= (n.424+3G=)
n.444+3G=
c.331+3G= (n.331+3G=)
c.463+3G= (n.463+3G=)
c.445+3G= (n.445+3G=)
3g.46897971G>ACA1047537534PTH1Rc.424+6G>A (n.424+6G>A)
n.444+6G>A
c.331+6G>A (n.331+6G>A)
c.463+6G>A (n.463+6G>A)
c.445+6G>A (n.445+6G>A)
dbSNP gnomAD v3 gnomAD v4
3g.46897971G=CA1362309814PTH1Rc.424+6G= (n.424+6G=)
n.444+6G=
c.331+6G= (n.331+6G=)
c.463+6G= (n.463+6G=)
c.445+6G= (n.445+6G=)
3g.46897972C>ACA2665482198PTH1Rc.424+7C>A (n.424+7C>A)
n.444+7C>A
c.331+7C>A (n.331+7C>A)
c.463+7C>A (n.463+7C>A)
c.445+7C>A (n.445+7C>A)
gnomAD v4
3g.46897976C=CA1362309816PTH1Rc.424+11C= (n.424+11C=)
n.444+11C=
c.331+11C= (n.331+11C=)
c.463+11C= (n.463+11C=)
c.445+11C= (n.445+11C=)
3g.46897976C>TCA907619369PTH1Rc.424+11C>T (n.424+11C>T)
n.444+11C>T
c.331+11C>T (n.331+11C>T)
c.463+11C>T (n.463+11C>T)
c.445+11C>T (n.445+11C>T)
dbSNP gnomAD v3 gnomAD v4
3g.46897980A=CA1362309819PTH1Rc.424+15A= (n.424+15A=)
n.444+15A=
c.331+15A= (n.331+15A=)
c.463+15A= (n.463+15A=)
c.445+15A= (n.445+15A=)
3g.46897980A>GCA2359162PTH1Rc.424+15A>G (n.424+15A>G)
n.444+15A>G
c.331+15A>G (n.331+15A>G)
c.463+15A>G (n.463+15A>G)
c.445+15A>G (n.445+15A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.46897981A=CA1362309822PTH1Rc.424+16A= (n.424+16A=)
n.444+16A=
c.331+16A= (n.331+16A=)
c.463+16A= (n.463+16A=)
c.445+16A= (n.445+16A=)
3g.46897981A>CCA1047537536PTH1Rc.424+16A>C (n.424+16A>C)
n.444+16A>C
c.331+16A>C (n.331+16A>C)
c.463+16A>C (n.463+16A>C)
c.445+16A>C (n.445+16A>C)
dbSNP
3g.46897982G>ACA73768933PTH1Rc.424+17G>A (n.424+17G>A)
n.444+17G>A
c.331+17G>A (n.331+17G>A)
c.463+17G>A (n.463+17G>A)
c.445+17G>A (n.445+17G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46897982G=CA1362309825PTH1Rc.424+17G= (n.424+17G=)
n.444+17G=
c.331+17G= (n.331+17G=)
c.463+17G= (n.463+17G=)
c.445+17G= (n.445+17G=)
3g.46897982G>TCA2665482199PTH1Rc.424+17G>T (n.424+17G>T)
n.444+17G>T
c.331+17G>T (n.331+17G>T)
c.463+17G>T (n.463+17G>T)
c.445+17G>T (n.445+17G>T)
gnomAD v4
3g.46897983G>ACA542731856PTH1Rc.424+18G>A (n.424+18G>A)
n.444+18G>A
c.331+18G>A (n.331+18G>A)
c.463+18G>A (n.463+18G>A)
c.445+18G>A (n.445+18G>A)
dbSNP gnomAD v2 gnomAD v4
3g.46897983G>CCA2665482200PTH1Rc.424+18G>C (n.424+18G>C)
n.444+18G>C
c.331+18G>C (n.331+18G>C)
c.463+18G>C (n.463+18G>C)
c.445+18G>C (n.445+18G>C)
gnomAD v4
3g.46897983G=CA1362309836PTH1Rc.424+18G= (n.424+18G=)
n.444+18G=
c.331+18G= (n.331+18G=)
c.463+18G= (n.463+18G=)
c.445+18G= (n.445+18G=)
3g.46897983G>TCA2359163PTH1Rc.424+18G>T (n.424+18G>T)
n.444+18G>T
c.331+18G>T (n.331+18G>T)
c.463+18G>T (n.463+18G>T)
c.445+18G>T (n.445+18G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46897986T>CCA542731858PTH1Rc.424+21T>C (n.424+21T>C)
n.444+21T>C
c.331+21T>C (n.331+21T>C)
c.463+21T>C (n.463+21T>C)
c.445+21T>C (n.445+21T>C)
dbSNP gnomAD v2 gnomAD v4
3g.46897986T>GCA907619389PTH1Rc.424+21T>G (n.424+21T>G)
n.444+21T>G
c.331+21T>G (n.331+21T>G)
c.463+21T>G (n.463+21T>G)
c.445+21T>G (n.445+21T>G)
dbSNP gnomAD v3 gnomAD v4
3g.46897986T=CA1362309839PTH1Rc.424+21T= (n.424+21T=)
n.444+21T=
c.331+21T= (n.331+21T=)
c.463+21T= (n.463+21T=)
c.445+21T= (n.445+21T=)
3g.46897987G>ACA2665482201PTH1Rc.424+22G>A (n.424+22G>A)
n.444+22G>A
c.331+22G>A (n.331+22G>A)
c.463+22G>A (n.463+22G>A)
c.445+22G>A (n.445+22G>A)
gnomAD v4
3g.46897988G>CCA2359164PTH1Rc.424+23G>C (n.424+23G>C)
n.444+23G>C
c.331+23G>C (n.331+23G>C)
c.463+23G>C (n.463+23G>C)
c.445+23G>C (n.445+23G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.46897988G=CA1362309843PTH1Rc.424+23G= (n.424+23G=)
n.444+23G=
c.331+23G= (n.331+23G=)
c.463+23G= (n.463+23G=)
c.445+23G= (n.445+23G=)
3g.46897990G>ACA542731861PTH1Rc.424+25G>A (n.424+25G>A)
n.444+25G>A
c.331+25G>A (n.331+25G>A)
c.463+25G>A (n.463+25G>A)
c.445+25G>A (n.445+25G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46897990G=CA1362309846PTH1Rc.424+25G= (n.424+25G=)
n.444+25G=
c.331+25G= (n.331+25G=)
c.463+25G= (n.463+25G=)
c.445+25G= (n.445+25G=)
3g.46897991A=CA1362309849PTH1Rc.424+26A= (n.424+26A=)
n.444+26A=
c.331+26A= (n.331+26A=)
c.463+26A= (n.463+26A=)
c.445+26A= (n.445+26A=)
3g.46897991A>TCA73768945PTH1Rc.424+26A>T (n.424+26A>T)
n.444+26A>T
c.331+26A>T (n.331+26A>T)
c.463+26A>T (n.463+26A>T)
c.445+26A>T (n.445+26A>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46897995C>TCA2665482202PTH1Rc.424+30C>T (n.424+30C>T)
n.444+30C>T
c.331+30C>T (n.331+30C>T)
c.463+30C>T (n.463+30C>T)
c.445+30C>T (n.445+30C>T)
gnomAD v4
3g.46897996A=CA1362309852PTH1Rc.424+31A= (n.424+31A=)
n.444+31A=
c.331+31A= (n.331+31A=)
c.463+31A= (n.463+31A=)
c.445+31A= (n.445+31A=)
3g.46897996A>GCA907619396PTH1Rc.424+31A>G (n.424+31A>G)
n.444+31A>G
c.331+31A>G (n.331+31A>G)
c.463+31A>G (n.463+31A>G)
c.445+31A>G (n.445+31A>G)
dbSNP
3g.46897998G>ACA2359165PTH1Rc.424+33G>A (n.424+33G>A)
n.444+33G>A
c.331+33G>A (n.331+33G>A)
c.463+33G>A (n.463+33G>A)
c.445+33G>A (n.445+33G>A)
dbSNP ExAC gnomAD v2
3g.46897998G=CA1362309855PTH1Rc.424+33G= (n.424+33G=)
n.444+33G=
c.331+33G= (n.331+33G=)
c.463+33G= (n.463+33G=)
c.445+33G= (n.445+33G=)
3g.46897999G>ACA907619400PTH1Rc.424+34G>A (n.424+34G>A)
n.444+34G>A
c.331+34G>A (n.331+34G>A)
c.463+34G>A (n.463+34G>A)
c.445+34G>A (n.445+34G>A)
dbSNP gnomAD v3 gnomAD v4
3g.46897999G=CA1362309857PTH1Rc.424+34G= (n.424+34G=)
n.444+34G=
c.331+34G= (n.331+34G=)
c.463+34G= (n.463+34G=)
c.445+34G= (n.445+34G=)
3g.46898004T>ACA2359166PTH1Rc.424+39T>A (n.424+39T>A)
n.444+39T>A
c.331+39T>A (n.331+39T>A)
c.463+39T>A (n.463+39T>A)
c.445+39T>A (n.445+39T>A)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.46898004T>GCA2665482203PTH1Rc.424+39T>G (n.424+39T>G)
n.444+39T>G
c.331+39T>G (n.331+39T>G)
c.463+39T>G (n.463+39T>G)
c.445+39T>G (n.445+39T>G)
gnomAD v4
3g.46898004T=CA1362309859PTH1Rc.424+39T= (n.424+39T=)
n.444+39T=
c.331+39T= (n.331+39T=)
c.463+39T= (n.463+39T=)
c.445+39T= (n.445+39T=)
3g.46898007G>CCA2665482204PTH1Rc.424+42G>C (n.424+42G>C)
n.444+42G>C
c.331+42G>C (n.331+42G>C)
c.463+42G>C (n.463+42G>C)
c.445+42G>C (n.445+42G>C)
gnomAD v4
3g.46898009C>ACA542731864PTH1Rc.424+44C>A (n.424+44C>A)
n.444+44C>A
c.331+44C>A (n.331+44C>A)
c.463+44C>A (n.463+44C>A)
c.445+44C>A (n.445+44C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46898009C=CA1362309861PTH1Rc.424+44C= (n.424+44C=)
n.444+44C=
c.331+44C= (n.331+44C=)
c.463+44C= (n.463+44C=)
c.445+44C= (n.445+44C=)
3g.46898009C>GCA907619408PTH1Rc.424+44C>G (n.424+44C>G)
n.444+44C>G
c.331+44C>G (n.331+44C>G)
c.463+44C>G (n.463+44C>G)
c.445+44C>G (n.445+44C>G)
dbSNP gnomAD v4
3g.46898011T>CCA2665482205PTH1Rc.424+46T>C (n.424+46T>C)
n.444+46T>C
c.331+46T>C (n.331+46T>C)
c.463+46T>C (n.463+46T>C)
c.445+46T>C (n.445+46T>C)
gnomAD v4
3g.46898013G>ACA2359167PTH1Rc.424+48G>A (n.424+48G>A)
n.444+48G>A
c.331+48G>A (n.331+48G>A)
c.463+48G>A (n.463+48G>A)
c.445+48G>A (n.445+48G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46898013G>CCA2577579672PTH1Rc.424+48G>C (n.424+48G>C)
n.444+48G>C
c.331+48G>C (n.331+48G>C)
c.463+48G>C (n.463+48G>C)
c.445+48G>C (n.445+48G>C)
3g.46898013G=CA1362309865PTH1Rc.424+48G= (n.424+48G=)
n.444+48G=
c.331+48G= (n.331+48G=)
c.463+48G= (n.463+48G=)
c.445+48G= (n.445+48G=)

Number of alleles fetched