Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.46897917G>A | CA352494345 | PTH1R | c.376G>A (p.Val126Met) n.396G>A c.283G>A (p.Val95Met) c.415G>A (p.Val139Met) c.397G>A (p.Val133Met) | gnomAD v4 |
3 | g.46897917G>C | CA352494347 | PTH1R | c.376G>C (p.Val126Leu) n.396G>C c.283G>C (p.Val95Leu) c.415G>C (p.Val139Leu) c.397G>C (p.Val133Leu) | gnomAD v4 |
3 | g.46897917G>T | CA352494350 | PTH1R | c.376G>T (p.Val126Leu) n.396G>T c.283G>T (p.Val95Leu) c.415G>T (p.Val139Leu) c.397G>T (p.Val133Leu) | gnomAD v4 |
3 | g.46897918T>A | CA352494356 | PTH1R | c.377T>A (p.Val126Glu) n.397T>A c.284T>A (p.Val95Glu) c.416T>A (p.Val139Glu) c.398T>A (p.Val133Glu) | |
3 | g.46897918T>C | CA352494354 | PTH1R | c.377T>C (p.Val126Ala) n.397T>C c.284T>C (p.Val95Ala) c.416T>C (p.Val139Ala) c.398T>C (p.Val133Ala) | |
3 | g.46897918T>G | CA352494353 | PTH1R | c.377T>G (p.Val126Gly) n.397T>G c.284T>G (p.Val95Gly) c.416T>G (p.Val139Gly) c.398T>G (p.Val133Gly) | |
3 | g.46897919G>A | CA433468953 | PTH1R | c.378G>A (p.Val126=) n.398G>A c.285G>A (p.Val95=) c.417G>A (p.Val139=) c.399G>A (p.Val133=) | |
3 | g.46897919G>C | CA433468958 | PTH1R | c.378G>C (p.Val126=) n.398G>C c.285G>C (p.Val95=) c.417G>C (p.Val139=) c.399G>C (p.Val133=) | |
3 | g.46897919G>T | CA433468960 | PTH1R | c.378G>T (p.Val126=) n.398G>T c.285G>T (p.Val95=) c.417G>T (p.Val139=) c.399G>T (p.Val133=) | |
3 | g.46897920G>A | CA352494360 | PTH1R | c.379G>A (p.Val127Met) n.399G>A c.286G>A (p.Val96Met) c.418G>A (p.Val140Met) c.400G>A (p.Val134Met) | ClinVar |
3 | g.46897920G>C | CA352494362 | PTH1R | c.379G>C (p.Val127Leu) n.399G>C c.286G>C (p.Val96Leu) c.418G>C (p.Val140Leu) c.400G>C (p.Val134Leu) | |
3 | g.46897920G>T | CA352494364 | PTH1R | c.379G>T (p.Val127Leu) n.399G>T c.286G>T (p.Val96Leu) c.418G>T (p.Val140Leu) c.400G>T (p.Val134Leu) | |
3 | g.46897921T>A | CA352494368 | PTH1R | c.380T>A (p.Val127Glu) n.400T>A c.287T>A (p.Val96Glu) c.419T>A (p.Val140Glu) c.401T>A (p.Val134Glu) | ClinVar |
3 | g.46897921T>C | CA352494369 | PTH1R | c.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 |
3 | g.46897921T>G | CA352494372 | PTH1R | c.380T>G (p.Val127Gly) n.400T>G c.287T>G (p.Val96Gly) c.419T>G (p.Val140Gly) c.401T>G (p.Val134Gly) | |
3 | g.46897921T= | CA1362309733 | PTH1R | c.380T= (p.Val127=) n.400T= c.287T= (p.Val96=) c.419T= (p.Val140=) c.401T= (p.Val134=) | |
3 | g.46897922G>A | CA433469000 | PTH1R | c.381G>A (p.Val127=) n.401G>A c.288G>A (p.Val96=) c.420G>A (p.Val140=) c.402G>A (p.Val134=) | |
3 | g.46897922G>C | CA433469004 | PTH1R | c.381G>C (p.Val127=) n.401G>C c.288G>C (p.Val96=) c.420G>C (p.Val140=) c.402G>C (p.Val134=) | |
3 | g.46897922G>T | CA433469005 | PTH1R | c.381G>T (p.Val127=) n.401G>T c.288G>T (p.Val96=) c.420G>T (p.Val140=) c.402G>T (p.Val134=) | |
3 | g.46897923G>A | CA352494375 | PTH1R | c.382G>A (p.Ala128Thr) n.402G>A c.289G>A (p.Ala97Thr) c.421G>A (p.Ala141Thr) c.403G>A (p.Ala135Thr) | |
3 | g.46897923G>C | CA352494377 | PTH1R | c.382G>C (p.Ala128Pro) n.402G>C c.289G>C (p.Ala97Pro) c.421G>C (p.Ala141Pro) c.403G>C (p.Ala135Pro) | |
3 | g.46897923G>T | CA352494379 | PTH1R | c.382G>T (p.Ala128Ser) n.402G>T c.289G>T (p.Ala97Ser) c.421G>T (p.Ala141Ser) c.403G>T (p.Ala135Ser) | |
3 | g.46897924C>A | CA352494383 | PTH1R | c.383C>A (p.Ala128Asp) n.403C>A c.290C>A (p.Ala97Asp) c.422C>A (p.Ala141Asp) c.404C>A (p.Ala135Asp) | |
3 | g.46897924C= | CA1362309737 | PTH1R | c.383C= (p.Ala128=) n.403C= c.290C= (p.Ala97=) c.422C= (p.Ala141=) c.404C= (p.Ala135=) | |
3 | g.46897924C>G | CA352494386 | PTH1R | c.383C>G (p.Ala128Gly) n.403C>G c.290C>G (p.Ala97Gly) c.422C>G (p.Ala141Gly) c.404C>G (p.Ala135Gly) | |
3 | g.46897924C>T | CA73768867 | PTH1R | c.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 |
3 | g.46897925T>A | CA433469033 | PTH1R | c.384T>A (p.Ala128=) n.404T>A c.291T>A (p.Ala97=) c.423T>A (p.Ala141=) c.405T>A (p.Ala135=) | |
3 | g.46897925T>C | CA433469038 | PTH1R | c.384T>C (p.Ala128=) n.404T>C c.291T>C (p.Ala97=) c.423T>C (p.Ala141=) c.405T>C (p.Ala135=) | |
3 | g.46897925T>G | CA433469042 | PTH1R | c.384T>G (p.Ala128=) n.404T>G c.291T>G (p.Ala97=) c.423T>G (p.Ala141=) c.405T>G (p.Ala135=) | |
3 | g.46897926G>A | CA352494391 | PTH1R | c.385G>A (p.Val129Met) n.405G>A c.292G>A (p.Val98Met) c.424G>A (p.Val142Met) c.406G>A (p.Val136Met) | |
3 | g.46897926G>C | CA352494395 | PTH1R | c.385G>C (p.Val129Leu) n.405G>C c.292G>C (p.Val98Leu) c.424G>C (p.Val142Leu) c.406G>C (p.Val136Leu) | |
3 | g.46897926G>T | CA352494393 | PTH1R | c.385G>T (p.Val129Leu) n.405G>T c.292G>T (p.Val98Leu) c.424G>T (p.Val142Leu) c.406G>T (p.Val136Leu) | |
3 | g.46897927T>A | CA352494398 | PTH1R | c.386T>A (p.Val129Glu) n.406T>A c.293T>A (p.Val98Glu) c.425T>A (p.Val142Glu) c.407T>A (p.Val136Glu) | |
3 | g.46897927T>C | CA352494403 | PTH1R | c.386T>C (p.Val129Ala) n.406T>C c.293T>C (p.Val98Ala) c.425T>C (p.Val142Ala) c.407T>C (p.Val136Ala) | |
3 | g.46897927T>G | CA352494401 | PTH1R | c.386T>G (p.Val129Gly) n.406T>G c.293T>G (p.Val98Gly) c.425T>G (p.Val142Gly) c.407T>G (p.Val136Gly) | |
3 | g.46897928G>A | CA433469061 | PTH1R | c.387G>A (p.Val129=) n.407G>A c.294G>A (p.Val98=) c.426G>A (p.Val142=) c.408G>A (p.Val136=) | |
3 | g.46897928G>C | CA433469062 | PTH1R | c.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 |
3 | g.46897928G= | CA1362309740 | PTH1R | c.387G= (p.Val129=) n.407G= c.294G= (p.Val98=) c.426G= (p.Val142=) c.408G= (p.Val136=) | |
3 | g.46897928G>T | CA433469063 | PTH1R | c.387G>T (p.Val129=) n.407G>T c.294G>T (p.Val98=) c.426G>T (p.Val142=) c.408G>T (p.Val136=) | |
3 | g.46897929C>A | CA352494407 | PTH1R | c.388C>A (p.Pro130Thr) n.408C>A c.295C>A (p.Pro99Thr) c.427C>A (p.Pro143Thr) c.409C>A (p.Pro137Thr) | |
3 | g.46897929C= | CA1362309743 | PTH1R | c.388C= (p.Pro130=) n.408C= c.295C= (p.Pro99=) c.427C= (p.Pro143=) c.409C= (p.Pro137=) | |
3 | g.46897929C>G | CA352494411 | PTH1R | c.388C>G (p.Pro130Ala) n.408C>G c.295C>G (p.Pro99Ala) c.427C>G (p.Pro143Ala) c.409C>G (p.Pro137Ala) | |
3 | g.46897929C>T | CA2359156 | PTH1R | c.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 |
3 | g.46897930C>A | CA352494414 | PTH1R | c.389C>A (p.Pro130His) n.409C>A c.296C>A (p.Pro99His) c.428C>A (p.Pro143His) c.410C>A (p.Pro137His) | |
3 | g.46897930C= | CA1362309747 | PTH1R | c.389C= (p.Pro130=) n.409C= c.296C= (p.Pro99=) c.428C= (p.Pro143=) c.410C= (p.Pro137=) | |
3 | g.46897930C>G | CA352494416 | PTH1R | c.389C>G (p.Pro130Arg) n.409C>G c.296C>G (p.Pro99Arg) c.428C>G (p.Pro143Arg) c.410C>G (p.Pro137Arg) | |
3 | g.46897930C>T | CA2359157 | PTH1R | c.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 |
3 | g.46897931C>A | CA433469082 | PTH1R | c.390C>A (p.Pro130=) n.410C>A c.297C>A (p.Pro99=) c.429C>A (p.Pro143=) c.411C>A (p.Pro137=) | |
3 | g.46897931C>G | CA433469085 | PTH1R | c.390C>G (p.Pro130=) n.410C>G c.297C>G (p.Pro99=) c.429C>G (p.Pro143=) c.411C>G (p.Pro137=) | |
3 | g.46897931C>T | CA433469076 | PTH1R | c.390C>T (p.Pro130=) n.410C>T c.297C>T (p.Pro99=) c.429C>T (p.Pro143=) c.411C>T (p.Pro137=) | COSMIC |
3 | g.46897932T>A | CA352494421 | PTH1R | c.391T>A (p.Cys131Ser) n.411T>A c.298T>A (p.Cys100Ser) c.430T>A (p.Cys144Ser) c.412T>A (p.Cys138Ser) | |
3 | g.46897932T>C | CA352494424 | PTH1R | c.391T>C (p.Cys131Arg) n.411T>C c.298T>C (p.Cys100Arg) c.430T>C (p.Cys144Arg) c.412T>C (p.Cys138Arg) | |
3 | g.46897932T>G | CA352494427 | PTH1R | c.391T>G (p.Cys131Gly) n.411T>G c.298T>G (p.Cys100Gly) c.430T>G (p.Cys144Gly) c.412T>G (p.Cys138Gly) | |
3 | g.46897933G>A | CA352494449 | PTH1R | c.392G>A (p.Cys131Tyr) n.412G>A c.299G>A (p.Cys100Tyr) c.431G>A (p.Cys144Tyr) c.413G>A (p.Cys138Tyr) | |
3 | g.46897933G>C | CA352494431 | PTH1R | c.392G>C (p.Cys131Ser) n.412G>C c.299G>C (p.Cys100Ser) c.431G>C (p.Cys144Ser) c.413G>C (p.Cys138Ser) | |
3 | g.46897933G>T | CA352494447 | PTH1R | c.392G>T (p.Cys131Phe) n.412G>T c.299G>T (p.Cys100Phe) c.431G>T (p.Cys144Phe) c.413G>T (p.Cys138Phe) | |
3 | g.46897934T>A | CA352494452 | PTH1R | c.393T>A (p.Cys131Ter) n.413T>A c.300T>A (p.Cys100Ter) c.432T>A (p.Cys144Ter) c.414T>A (p.Cys138Ter) | |
3 | g.46897934T>C | CA433469122 | PTH1R | c.393T>C (p.Cys131=) n.413T>C c.300T>C (p.Cys100=) c.432T>C (p.Cys144=) c.414T>C (p.Cys138=) | |
3 | g.46897934T>G | CA352494453 | PTH1R | c.393T>G (p.Cys131Trp) n.413T>G c.300T>G (p.Cys100Trp) c.432T>G (p.Cys144Trp) c.414T>G (p.Cys138Trp) | |
3 | g.46897935C>A | CA352494456 | PTH1R | c.394C>A (p.Pro132Thr) n.414C>A c.301C>A (p.Pro101Thr) c.433C>A (p.Pro145Thr) c.415C>A (p.Pro139Thr) | |
3 | g.46897935C= | CA1362309752 | PTH1R | c.394C= (p.Pro132=) n.414C= c.301C= (p.Pro101=) c.433C= (p.Pro145=) c.415C= (p.Pro139=) | |
3 | g.46897935C>G | CA352494459 | PTH1R | c.394C>G (p.Pro132Ala) n.414C>G c.301C>G (p.Pro101Ala) c.433C>G (p.Pro145Ala) c.415C>G (p.Pro139Ala) | |
3 | g.46897935C>T | CA73768884 | PTH1R | c.394C>T (p.Pro132Ser) n.414C>T c.301C>T (p.Pro101Ser) c.433C>T (p.Pro145Ser) c.415C>T (p.Pro139Ser) | dbSNP |
3 | g.46897936C>A | CA352494468 | PTH1R | c.395C>A (p.Pro132Gln) n.415C>A c.302C>A (p.Pro101Gln) c.434C>A (p.Pro145Gln) c.416C>A (p.Pro139Gln) | |
3 | g.46897936C= | CA1362309760 | PTH1R | c.395C= (p.Pro132=) n.415C= c.302C= (p.Pro101=) c.434C= (p.Pro145=) c.416C= (p.Pro139=) | |
3 | g.46897936C>G | CA352494464 | PTH1R | c.395C>G (p.Pro132Arg) n.415C>G c.302C>G (p.Pro101Arg) c.434C>G (p.Pro145Arg) c.416C>G (p.Pro139Arg) | ClinVar dbSNP |
3 | g.46897936C>T | CA123425 | PTH1R | c.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 |
3 | g.46897937G>A | CA2359158 | PTH1R | c.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 |
3 | g.46897937G>C | CA433469157 | PTH1R | c.396G>C (p.Pro132=) n.416G>C c.303G>C (p.Pro101=) c.435G>C (p.Pro145=) c.417G>C (p.Pro139=) | |
3 | g.46897937G= | CA1362309766 | PTH1R | c.396G= (p.Pro132=) n.416G= c.303G= (p.Pro101=) c.435G= (p.Pro145=) c.417G= (p.Pro139=) | |
3 | g.46897937G>T | CA433469154 | PTH1R | c.396G>T (p.Pro132=) n.416G>T c.303G>T (p.Pro101=) c.435G>T (p.Pro145=) c.417G>T (p.Pro139=) | gnomAD v4 |
3 | g.46897938G>A | CA73768896 | PTH1R | c.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 |
3 | g.46897938G>C | CA352494475 | PTH1R | c.397G>C (p.Asp133His) n.417G>C c.304G>C (p.Asp102His) c.436G>C (p.Asp146His) c.418G>C (p.Asp140His) | |
3 | g.46897938G= | CA1362309771 | PTH1R | c.397G= (p.Asp133=) n.417G= c.304G= (p.Asp102=) c.436G= (p.Asp146=) c.418G= (p.Asp140=) | |
3 | g.46897938G>T | CA352494480 | PTH1R | c.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 |
3 | g.46897939A= | CA1362309776 | PTH1R | c.398A= (p.Asp133=) n.418A= c.305A= (p.Asp102=) c.437A= (p.Asp146=) c.419A= (p.Asp140=) | |
3 | g.46897939A>C | CA2359159 | PTH1R | c.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 |
3 | g.46897939A>G | CA352494488 | PTH1R | c.398A>G (p.Asp133Gly) n.418A>G c.305A>G (p.Asp102Gly) c.437A>G (p.Asp146Gly) c.419A>G (p.Asp140Gly) | COSMIC |
3 | g.46897939A>T | CA73768901 | PTH1R | c.398A>T (p.Asp133Val) n.418A>T c.305A>T (p.Asp102Val) c.437A>T (p.Asp146Val) c.419A>T (p.Asp140Val) | dbSNP |
3 | g.46897940C>A | CA352494495 | PTH1R | c.399C>A (p.Asp133Glu) n.419C>A c.306C>A (p.Asp102Glu) c.438C>A (p.Asp146Glu) c.420C>A (p.Asp140Glu) | |
3 | g.46897940C>G | CA352494498 | PTH1R | c.399C>G (p.Asp133Glu) n.419C>G c.306C>G (p.Asp102Glu) c.438C>G (p.Asp146Glu) c.420C>G (p.Asp140Glu) | |
3 | g.46897940C>T | CA433469201 | PTH1R | c.399C>T (p.Asp133=) n.419C>T c.306C>T (p.Asp102=) c.438C>T (p.Asp146=) c.420C>T (p.Asp140=) | |
3 | g.46897941T>A | CA352494505 | PTH1R | c.400T>A (p.Tyr134Asn) n.420T>A c.307T>A (p.Tyr103Asn) c.439T>A (p.Tyr147Asn) c.421T>A (p.Tyr141Asn) | |
3 | g.46897941T>C | CA352494509 | PTH1R | c.400T>C (p.Tyr134His) n.420T>C c.307T>C (p.Tyr103His) c.439T>C (p.Tyr147His) c.421T>C (p.Tyr141His) | gnomAD v4 |
3 | g.46897941T>G | CA2359160 | PTH1R | c.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 |
3 | g.46897941T= | CA1362309780 | PTH1R | c.400T= (p.Tyr134=) n.420T= c.307T= (p.Tyr103=) c.439T= (p.Tyr147=) c.421T= (p.Tyr141=) | |
3 | g.46897942A= | CA1362309789 | PTH1R | c.401A= (p.Tyr134=) n.421A= c.308A= (p.Tyr103=) c.440A= (p.Tyr147=) c.422A= (p.Tyr141=) | |
3 | g.46897942A>C | CA352494568 | PTH1R | c.401A>C (p.Tyr134Ser) n.421A>C c.308A>C (p.Tyr103Ser) c.440A>C (p.Tyr147Ser) c.422A>C (p.Tyr141Ser) | ClinVar dbSNP |
3 | g.46897942A>G | CA352494516 | PTH1R | c.401A>G (p.Tyr134Cys) n.421A>G c.308A>G (p.Tyr103Cys) c.440A>G (p.Tyr147Cys) c.422A>G (p.Tyr141Cys) | |
3 | g.46897942A>T | CA352494519 | PTH1R | c.401A>T (p.Tyr134Phe) n.421A>T c.308A>T (p.Tyr103Phe) c.440A>T (p.Tyr147Phe) c.422A>T (p.Tyr141Phe) | gnomAD v4 |
3 | g.46897943C>A | CA352494573 | PTH1R | c.402C>A (p.Tyr134Ter) n.422C>A c.309C>A (p.Tyr103Ter) c.441C>A (p.Tyr147Ter) c.423C>A (p.Tyr141Ter) | |
3 | g.46897943C>G | CA352494575 | PTH1R | c.402C>G (p.Tyr134Ter) n.422C>G c.309C>G (p.Tyr103Ter) c.441C>G (p.Tyr147Ter) c.423C>G (p.Tyr141Ter) | dbSNP |
3 | g.46897943C>T | CA433469249 | PTH1R | c.402C>T (p.Tyr134=) n.422C>T c.309C>T (p.Tyr103=) c.441C>T (p.Tyr147=) c.423C>T (p.Tyr141=) | |
3 | g.46897944A>C | CA352494579 | PTH1R | c.403A>C (p.Ile135Leu) n.423A>C c.310A>C (p.Ile104Leu) c.442A>C (p.Ile148Leu) c.424A>C (p.Ile142Leu) | |
3 | g.46897944A>G | CA352494581 | PTH1R | c.403A>G (p.Ile135Val) n.423A>G c.310A>G (p.Ile104Val) c.442A>G (p.Ile148Val) c.424A>G (p.Ile142Val) | |
3 | g.46897944A>T | CA352494584 | PTH1R | c.403A>T (p.Ile135Phe) n.423A>T c.310A>T (p.Ile104Phe) c.442A>T (p.Ile148Phe) c.424A>T (p.Ile142Phe) | |
3 | g.46897945T>A | CA2359161 | PTH1R | c.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 |
3 | g.46897945T>C | CA352494592 | PTH1R | c.404T>C (p.Ile135Thr) n.424T>C c.311T>C (p.Ile104Thr) c.443T>C (p.Ile148Thr) c.425T>C (p.Ile142Thr) | |
3 | g.46897945T>G | CA352494596 | PTH1R | c.404T>G (p.Ile135Ser) n.424T>G c.311T>G (p.Ile104Ser) c.443T>G (p.Ile148Ser) c.425T>G (p.Ile142Ser) | |
3 | g.46897945T= | CA1362309793 | PTH1R | c.404T= (p.Ile135=) n.424T= c.311T= (p.Ile104=) c.443T= (p.Ile148=) c.425T= (p.Ile142=) | |
3 | g.46897946T>A | CA433469291 | PTH1R | c.405T>A (p.Ile135=) n.425T>A c.312T>A (p.Ile104=) c.444T>A (p.Ile148=) c.426T>A (p.Ile142=) | |
3 | g.46897946T>C | CA433469297 | PTH1R | c.405T>C (p.Ile135=) n.425T>C c.312T>C (p.Ile104=) c.444T>C (p.Ile148=) c.426T>C (p.Ile142=) | |
3 | g.46897946T>G | CA352494606 | PTH1R | c.405T>G (p.Ile135Met) n.425T>G c.312T>G (p.Ile104Met) c.444T>G (p.Ile148Met) c.426T>G (p.Ile142Met) | |
3 | g.46897947T>A | CA352494610 | PTH1R | c.406T>A (p.Tyr136Asn) n.426T>A c.313T>A (p.Tyr105Asn) c.445T>A (p.Tyr149Asn) c.427T>A (p.Tyr143Asn) | gnomAD v4 |
3 | g.46897947T>C | CA352494611 | PTH1R | c.406T>C (p.Tyr136His) n.426T>C c.313T>C (p.Tyr105His) c.445T>C (p.Tyr149His) c.427T>C (p.Tyr143His) | |
3 | g.46897947T>G | CA352494612 | PTH1R | c.406T>G (p.Tyr136Asp) n.426T>G c.313T>G (p.Tyr105Asp) c.445T>G (p.Tyr149Asp) c.427T>G (p.Tyr143Asp) | |
3 | g.46897948A>C | CA352494622 | PTH1R | c.407A>C (p.Tyr136Ser) n.427A>C c.314A>C (p.Tyr105Ser) c.446A>C (p.Tyr149Ser) c.428A>C (p.Tyr143Ser) | |
3 | g.46897948A>G | CA352494619 | PTH1R | c.407A>G (p.Tyr136Cys) n.427A>G c.314A>G (p.Tyr105Cys) c.446A>G (p.Tyr149Cys) c.428A>G (p.Tyr143Cys) | |
3 | g.46897948A>T | CA352494615 | PTH1R | c.407A>T (p.Tyr136Phe) n.427A>T c.314A>T (p.Tyr105Phe) c.446A>T (p.Tyr149Phe) c.428A>T (p.Tyr143Phe) | |
3 | g.46897949T>A | CA352494625 | PTH1R | c.408T>A (p.Tyr136Ter) n.428T>A c.315T>A (p.Tyr105Ter) c.447T>A (p.Tyr149Ter) c.429T>A (p.Tyr143Ter) | |
3 | g.46897949T>C | CA433469357 | PTH1R | c.408T>C (p.Tyr136=) n.428T>C c.315T>C (p.Tyr105=) c.447T>C (p.Tyr149=) c.429T>C (p.Tyr143=) | ClinVar dbSNP |
3 | g.46897949T>G | CA352494628 | PTH1R | c.408T>G (p.Tyr136Ter) n.428T>G c.315T>G (p.Tyr105Ter) c.447T>G (p.Tyr149Ter) c.429T>G (p.Tyr143Ter) | |
3 | g.46897949T= | CA1362309797 | PTH1R | c.408T= (p.Tyr136=) n.428T= c.315T= (p.Tyr105=) c.447T= (p.Tyr149=) c.429T= (p.Tyr143=) | |
3 | g.46897950G>A | CA352494632 | PTH1R | c.409G>A (p.Asp137Asn) n.429G>A c.316G>A (p.Asp106Asn) c.448G>A (p.Asp150Asn) c.430G>A (p.Asp144Asn) | |
3 | g.46897950G>C | CA352494634 | PTH1R | c.409G>C (p.Asp137His) n.429G>C c.316G>C (p.Asp106His) c.448G>C (p.Asp150His) c.430G>C (p.Asp144His) | |
3 | g.46897950G>T | CA352494639 | PTH1R | c.409G>T (p.Asp137Tyr) n.429G>T c.316G>T (p.Asp106Tyr) c.448G>T (p.Asp150Tyr) c.430G>T (p.Asp144Tyr) | |
3 | g.46897951A>C | CA352494645 | PTH1R | c.410A>C (p.Asp137Ala) n.430A>C c.317A>C (p.Asp106Ala) c.449A>C (p.Asp150Ala) c.431A>C (p.Asp144Ala) | |
3 | g.46897951A>G | CA352494647 | PTH1R | c.410A>G (p.Asp137Gly) n.430A>G c.317A>G (p.Asp106Gly) c.449A>G (p.Asp150Gly) c.431A>G (p.Asp144Gly) | |
3 | g.46897951A>T | CA352494650 | PTH1R | c.410A>T (p.Asp137Val) n.430A>T c.317A>T (p.Asp106Val) c.449A>T (p.Asp150Val) c.431A>T (p.Asp144Val) | |
3 | g.46897952C>A | CA352494655 | PTH1R | c.411C>A (p.Asp137Glu) n.431C>A c.318C>A (p.Asp106Glu) c.450C>A (p.Asp150Glu) c.432C>A (p.Asp144Glu) | |
3 | g.46897952C>G | CA352494657 | PTH1R | c.411C>G (p.Asp137Glu) n.431C>G c.318C>G (p.Asp106Glu) c.450C>G (p.Asp150Glu) c.432C>G (p.Asp144Glu) | |
3 | g.46897952C>T | CA433469382 | PTH1R | c.411C>T (p.Asp137=) n.431C>T c.318C>T (p.Asp106=) c.450C>T (p.Asp150=) c.432C>T (p.Asp144=) | gnomAD v4 |
3 | g.46897953T>A | CA352494662 | PTH1R | c.412T>A (p.Phe138Ile) n.432T>A c.319T>A (p.Phe107Ile) c.451T>A (p.Phe151Ile) c.433T>A (p.Phe145Ile) | |
3 | g.46897953T>C | CA352494666 | PTH1R | c.412T>C (p.Phe138Leu) n.432T>C c.319T>C (p.Phe107Leu) c.451T>C (p.Phe151Leu) c.433T>C (p.Phe145Leu) | |
3 | g.46897953T>G | CA352494669 | PTH1R | c.412T>G (p.Phe138Val) n.432T>G c.319T>G (p.Phe107Val) c.451T>G (p.Phe151Val) c.433T>G (p.Phe145Val) | |
3 | g.46897954T>A | CA352494676 | PTH1R | c.413T>A (p.Phe138Tyr) n.433T>A c.320T>A (p.Phe107Tyr) c.452T>A (p.Phe151Tyr) c.434T>A (p.Phe145Tyr) | |
3 | g.46897954T>C | CA352494679 | PTH1R | c.413T>C (p.Phe138Ser) n.433T>C c.320T>C (p.Phe107Ser) c.452T>C (p.Phe151Ser) c.434T>C (p.Phe145Ser) | |
3 | g.46897954T>G | CA352494673 | PTH1R | c.413T>G (p.Phe138Cys) n.433T>G c.320T>G (p.Phe107Cys) c.452T>G (p.Phe151Cys) c.434T>G (p.Phe145Cys) | |
3 | g.46897955C>A | CA352494681 | PTH1R | c.414C>A (p.Phe138Leu) n.434C>A c.321C>A (p.Phe107Leu) c.453C>A (p.Phe151Leu) c.435C>A (p.Phe145Leu) | |
3 | g.46897955C>G | CA352494693 | PTH1R | c.414C>G (p.Phe138Leu) n.434C>G c.321C>G (p.Phe107Leu) c.453C>G (p.Phe151Leu) c.435C>G (p.Phe145Leu) | |
3 | g.46897955C>T | CA433469412 | PTH1R | c.414C>T (p.Phe138=) n.434C>T c.321C>T (p.Phe107=) c.453C>T (p.Phe151=) c.435C>T (p.Phe145=) | |
3 | g.46897956A>C | CA352494701 | PTH1R | c.415A>C (p.Asn139His) n.435A>C c.322A>C (p.Asn108His) c.454A>C (p.Asn152His) c.436A>C (p.Asn146His) | |
3 | g.46897956A>G | CA352494705 | PTH1R | c.415A>G (p.Asn139Asp) n.435A>G c.322A>G (p.Asn108Asp) c.454A>G (p.Asn152Asp) c.436A>G (p.Asn146Asp) | |
3 | g.46897956A>T | CA352494709 | PTH1R | c.415A>T (p.Asn139Tyr) n.435A>T c.322A>T (p.Asn108Tyr) c.454A>T (p.Asn152Tyr) c.436A>T (p.Asn146Tyr) | |
3 | g.46897957A= | CA1362309800 | PTH1R | c.416A= (p.Asn139=) n.436A= c.323A= (p.Asn108=) c.455A= (p.Asn152=) c.437A= (p.Asn146=) | |
3 | g.46897957A>C | CA352494712 | PTH1R | c.416A>C (p.Asn139Thr) n.436A>C c.323A>C (p.Asn108Thr) c.455A>C (p.Asn152Thr) c.437A>C (p.Asn146Thr) | |
3 | g.46897957A>G | CA352494716 | PTH1R | c.416A>G (p.Asn139Ser) n.436A>G c.323A>G (p.Asn108Ser) c.455A>G (p.Asn152Ser) c.437A>G (p.Asn146Ser) | ClinVar dbSNP |
3 | g.46897957A>T | CA352494719 | PTH1R | c.416A>T (p.Asn139Ile) n.436A>T c.323A>T (p.Asn108Ile) c.455A>T (p.Asn152Ile) c.437A>T (p.Asn146Ile) | |
3 | g.46897958T>A | CA352494722 | PTH1R | c.417T>A (p.Asn139Lys) n.437T>A c.324T>A (p.Asn108Lys) c.456T>A (p.Asn152Lys) c.438T>A (p.Asn146Lys) | |
3 | g.46897958T>C | CA433469434 | PTH1R | c.417T>C (p.Asn139=) n.437T>C c.324T>C (p.Asn108=) c.456T>C (p.Asn152=) c.438T>C (p.Asn146=) | |
3 | g.46897958T>G | CA352494724 | PTH1R | c.417T>G (p.Asn139Lys) n.437T>G c.324T>G (p.Asn108Lys) c.456T>G (p.Asn152Lys) c.438T>G (p.Asn146Lys) | |
3 | g.46897959C>A | CA352494728 | PTH1R | c.418C>A (p.His140Asn) n.438C>A c.325C>A (p.His109Asn) c.457C>A (p.His153Asn) c.439C>A (p.His147Asn) | |
3 | g.46897959C>G | CA352494729 | PTH1R | c.418C>G (p.His140Asp) n.438C>G c.325C>G (p.His109Asp) c.457C>G (p.His153Asp) c.439C>G (p.His147Asp) | gnomAD v4 |
3 | g.46897959C>T | CA352494730 | PTH1R | c.418C>T (p.His140Tyr) n.438C>T c.325C>T (p.His109Tyr) c.457C>T (p.His153Tyr) c.439C>T (p.His147Tyr) | |
3 | g.46897960A= | CA1362309803 | PTH1R | c.419A= (p.His140=) n.439A= c.326A= (p.His109=) c.458A= (p.His153=) c.440A= (p.His147=) | |
3 | g.46897960A>C | CA352494741 | PTH1R | c.419A>C (p.His140Pro) n.439A>C c.326A>C (p.His109Pro) c.458A>C (p.His153Pro) c.440A>C (p.His147Pro) | |
3 | g.46897960A>G | CA352494738 | PTH1R | c.419A>G (p.His140Arg) n.439A>G c.326A>G (p.His109Arg) c.458A>G (p.His153Arg) c.440A>G (p.His147Arg) | |
3 | g.46897960A>T | CA352494733 | PTH1R | c.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 |
3 | g.46897961C>A | CA352494742 | PTH1R | c.420C>A (p.His140Gln) n.440C>A c.327C>A (p.His109Gln) c.459C>A (p.His153Gln) c.441C>A (p.His147Gln) | |
3 | g.46897961C>G | CA352494743 | PTH1R | c.420C>G (p.His140Gln) n.440C>G c.327C>G (p.His109Gln) c.459C>G (p.His153Gln) c.441C>G (p.His147Gln) | |
3 | g.46897961C>T | CA433469470 | PTH1R | c.420C>T (p.His140=) n.440C>T c.327C>T (p.His109=) c.459C>T (p.His153=) c.441C>T (p.His147=) | |
3 | g.46897962A= | CA1362309807 | PTH1R | c.421A= (p.Lys141=) n.441A= c.328A= (p.Lys110=) c.460A= (p.Lys154=) c.442A= (p.Lys148=) | |
3 | g.46897962A>C | CA352494744 | PTH1R | c.421A>C (p.Lys141Gln) n.441A>C c.328A>C (p.Lys110Gln) c.460A>C (p.Lys154Gln) c.442A>C (p.Lys148Gln) | |
3 | g.46897962A>G | CA352494746 | PTH1R | c.421A>G (p.Lys141Glu) n.441A>G c.328A>G (p.Lys110Glu) c.460A>G (p.Lys154Glu) c.442A>G (p.Lys148Glu) | dbSNP |
3 | g.46897962A>T | CA352494749 | PTH1R | c.421A>T (p.Lys141Ter) n.441A>T c.328A>T (p.Lys110Ter) c.460A>T (p.Lys154Ter) c.442A>T (p.Lys148Ter) | |
3 | g.46897963A>C | CA352494752 | PTH1R | c.422A>C (p.Lys141Thr) n.442A>C c.329A>C (p.Lys110Thr) c.461A>C (p.Lys154Thr) c.443A>C (p.Lys148Thr) | |
3 | g.46897963A>G | CA352494753 | PTH1R | c.422A>G (p.Lys141Arg) n.442A>G c.329A>G (p.Lys110Arg) c.461A>G (p.Lys154Arg) c.443A>G (p.Lys148Arg) | gnomAD v4 |
3 | g.46897963A>T | CA352494754 | PTH1R | c.422A>T (p.Lys141Ile) n.442A>T c.329A>T (p.Lys110Ile) c.461A>T (p.Lys154Ile) c.443A>T (p.Lys148Ile) | |
3 | g.46897964A>C | CA352494756 | PTH1R | c.423A>C (p.Lys141Asn) n.443A>C c.330A>C (p.Lys110Asn) c.462A>C (p.Lys154Asn) c.444A>C (p.Lys148Asn) | |
3 | g.46897964A>G | CA433469489 | PTH1R | c.423A>G (p.Lys141=) n.443A>G c.330A>G (p.Lys110=) c.462A>G (p.Lys154=) c.444A>G (p.Lys148=) | |
3 | g.46897964A>T | CA352494759 | PTH1R | c.423A>T (p.Lys141Asn) n.443A>T c.330A>T (p.Lys110Asn) c.462A>T (p.Lys154Asn) c.444A>T (p.Lys148Asn) | |
3 | g.46897965G>A | CA352494763 | PTH1R | c.424G>A (p.Gly142Ser) n.444G>A c.331G>A (p.Gly111Ser) c.463G>A (p.Gly155Ser) c.445G>A (p.Gly149Ser) | gnomAD v4 |
3 | g.46897965G>C | CA352494766 | PTH1R | c.424G>C (p.Gly142Arg) n.444G>C c.331G>C (p.Gly111Arg) c.463G>C (p.Gly155Arg) c.445G>C (p.Gly149Arg) | |
3 | g.46897965G>T | CA352494768 | PTH1R | c.424G>T (p.Gly142Cys) n.444G>T c.331G>T (p.Gly111Cys) c.463G>T (p.Gly155Cys) c.445G>T (p.Gly149Cys) | |
3 | g.46897966G>A | CA352494780 | PTH1R | c.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 |
3 | g.46897966G>C | CA73768922 | PTH1R | c.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 |
3 | g.46897966G= | CA1362309808 | PTH1R | c.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=) | |
3 | g.46897966G>T | CA352494772 | PTH1R | c.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 |
3 | g.46897967T>A | CA352494789 | PTH1R | c.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) | |
3 | g.46897967T>C | CA352494792 | PTH1R | c.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) | |
3 | g.46897967T>G | CA352494793 | PTH1R | c.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) | |
3 | g.46897968del | CA2702682364 | PTH1R | c.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 |
3 | g.46897968G>A | CA907619367 | PTH1R | c.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 |
3 | g.46897968G= | CA1362309811 | PTH1R | c.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=) | |
3 | g.46897971G>A | CA1047537534 | PTH1R | c.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 |
3 | g.46897971G= | CA1362309814 | PTH1R | c.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=) | |
3 | g.46897972C>A | CA2665482198 | PTH1R | c.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 |
3 | g.46897975G>T | CA2840349261 | PTH1R | c.424+10G>T (n.424+10G>T) n.444+10G>T c.331+10G>T (n.331+10G>T) c.463+10G>T (n.463+10G>T) c.445+10G>T (n.445+10G>T) | |
3 | g.46897976C= | CA1362309816 | PTH1R | c.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=) | |
3 | g.46897976C>T | CA907619369 | PTH1R | c.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 |
3 | g.46897977T>A | CA2833724170 | PTH1R | c.424+12T>A (n.424+12T>A) n.444+12T>A c.331+12T>A (n.331+12T>A) c.463+12T>A (n.463+12T>A) c.445+12T>A (n.445+12T>A) | |
3 | g.46897980A= | CA1362309819 | PTH1R | c.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=) | |
3 | g.46897980A>G | CA2359162 | PTH1R | c.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 |
3 | g.46897981A= | CA1362309822 | PTH1R | c.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=) | |
3 | g.46897981A>C | CA1047537536 | PTH1R | c.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 |
3 | g.46897982G>A | CA73768933 | PTH1R | c.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 |
3 | g.46897982G= | CA1362309825 | PTH1R | c.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=) | |
3 | g.46897982G>T | CA2665482199 | PTH1R | c.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 |
3 | g.46897985dup | CA2840349262 | PTH1R | c.424+20dup (n.424+20dup) n.444+20dup c.331+20dup (n.331+20dup) c.463+20dup (n.463+20dup) c.445+20dup (n.445+20dup) | |
3 | g.46897983G>A | CA542731856 | PTH1R | c.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 |
3 | g.46897983G>C | CA2665482200 | PTH1R | c.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 |
3 | g.46897983G= | CA1362309836 | PTH1R | c.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=) | |
3 | g.46897983G>T | CA2359163 | PTH1R | c.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 |
3 | g.46897986T>C | CA542731858 | PTH1R | c.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 |
3 | g.46897986T>G | CA907619389 | PTH1R | c.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 |
3 | g.46897986T= | CA1362309839 | PTH1R | c.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=) | |
3 | g.46897987G>A | CA2665482201 | PTH1R | c.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 |
3 | g.46897987G>T | CA2838299870 | PTH1R | c.424+22G>T (n.424+22G>T) n.444+22G>T c.331+22G>T (n.331+22G>T) c.463+22G>T (n.463+22G>T) c.445+22G>T (n.445+22G>T) | |
3 | g.46897988G>C | CA2359164 | PTH1R | c.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 |
3 | g.46897988G= | CA1362309843 | PTH1R | c.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=) | |
3 | g.46897990G>A | CA542731861 | PTH1R | c.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 |
3 | g.46897990G= | CA1362309846 | PTH1R | c.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=) | |
3 | g.46897991A= | CA1362309849 | PTH1R | c.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=) | |
3 | g.46897991A>T | CA73768945 | PTH1R | c.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 |
3 | g.46897995C>T | CA2665482202 | PTH1R | c.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 |
3 | g.46897996A= | CA1362309852 | PTH1R | c.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=) | |
3 | g.46897996A>G | CA907619396 | PTH1R | c.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 |
3 | g.46897998G>A | CA2359165 | PTH1R | c.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 |
3 | g.46897998G= | CA1362309855 | PTH1R | c.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=) | |
3 | g.46897999G>A | CA907619400 | PTH1R | c.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 |
3 | g.46897999G= | CA1362309857 | PTH1R | c.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=) | |
3 | g.46898004T>A | CA2359166 | PTH1R | c.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 |
3 | g.46898004T>G | CA2665482203 | PTH1R | c.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 |
3 | g.46898004T= | CA1362309859 | PTH1R | c.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=) | |
3 | g.46898007G>C | CA2665482204 | PTH1R | c.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 |
3 | g.46898009C>A | CA542731864 | PTH1R | c.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 |
3 | g.46898009C= | CA1362309861 | PTH1R | c.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=) | |
3 | g.46898009C>G | CA907619408 | PTH1R | c.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 |
3 | g.46898011T>C | CA2665482205 | PTH1R | c.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 |
3 | g.46898013G>A | CA2359167 | PTH1R | c.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 |
3 | g.46898013G>C | CA2577579672 | PTH1R | c.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) | |
3 | g.46898013G= | CA1362309865 | PTH1R | c.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=) | |
3 | g.46898015G>A | CA2665482206 | PTH1R | c.424+50G>A (n.424+50G>A) n.444+50G>A c.331+50G>A (n.331+50G>A) c.463+50G>A (n.463+50G>A) c.445+50G>A (n.445+50G>A) | gnomAD v4 |
3 | g.46898016C= | CA1362309868 | PTH1R | c.424+51C= (n.424+51C=) n.444+51C= c.331+51C= (n.331+51C=) c.463+51C= (n.463+51C=) c.445+51C= (n.445+51C=) | |
3 | g.46898016C>T | CA907619409 | PTH1R | c.424+51C>T (n.424+51C>T) n.444+51C>T c.331+51C>T (n.331+51C>T) c.463+51C>T (n.463+51C>T) c.445+51C>T (n.445+51C>T) | dbSNP gnomAD v3 gnomAD v4 |