UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177992940G>A | CA448355127 | PROP1 | c.450C>T (p.Ser150=) | |
| 5 | g.177992940G>C | CA448355128 | PROP1 | c.450C>G (p.Ser150=) | |
| 5 | g.177992940G>T | CA448355130 | PROP1 | c.450C>A (p.Ser150=) | |
| 5 | g.177992941G>A | CA362378700 | PROP1 | c.449C>T (p.Ser150Phe) | gnomAD v4 |
| 5 | g.177992941G>C | CA362378701 | PROP1 | c.449C>G (p.Ser150Cys) | |
| 5 | g.177992941G>T | CA362378699 | PROP1 | c.449C>A (p.Ser150Tyr) | |
| 5 | g.177992942A= | CA1603814052 | PROP1 | c.448T= (p.Ser150=) | |
| 5 | g.177992942A>C | CA362378704 | PROP1 | c.448T>G (p.Ser150Ala) | |
| 5 | g.177992942A>G | CA362378702 | PROP1 | c.448T>C (p.Ser150Pro) | |
| 5 | g.177992942A>T | CA362378703 | PROP1 | c.448T>A (p.Ser150Thr) | dbSNP |
| 5 | g.177992943C>A | CA362378705 | PROP1 | c.447G>T (p.Glu149Asp) | |
| 5 | g.177992943C= | CA1603814053 | PROP1 | c.447G= (p.Glu149=) | |
| 5 | g.177992943C>G | CA362378706 | PROP1 | c.447G>C (p.Glu149Asp) | |
| 5 | g.177992943C>T | CA3587524 | PROP1 | c.447G>A (p.Glu149=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992944T>A | CA362378707 | PROP1 | c.446A>T (p.Glu149Val) | |
| 5 | g.177992944T>C | CA362378708 | PROP1 | c.446A>G (p.Glu149Gly) | gnomAD v4 |
| 5 | g.177992944T>G | CA362378709 | PROP1 | c.446A>C (p.Glu149Ala) | |
| 5 | g.177992945C>A | CA362378710 | PROP1 | c.445G>T (p.Glu149Ter) | |
| 5 | g.177992945C>G | CA362378711 | PROP1 | c.445G>C (p.Glu149Gln) | |
| 5 | g.177992945C>T | CA362378712 | PROP1 | c.445G>A (p.Glu149Lys) | |
| 5 | g.177992946T>A | CA448355146 | PROP1 | c.444A>T (p.Pro148=) | |
| 5 | g.177992946T>C | CA3587525 | PROP1 | c.444A>G (p.Pro148=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177992946T>G | CA448355149 | PROP1 | c.444A>C (p.Pro148=) | |
| 5 | g.177992946T= | CA1603814054 | PROP1 | c.444A= (p.Pro148=) | |
| 5 | g.177992947G>A | CA362378715 | PROP1 | c.443C>T (p.Pro148Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992947G>C | CA362378714 | PROP1 | c.443C>G (p.Pro148Arg) | |
| 5 | g.177992947G= | CA1603814055 | PROP1 | c.443C= (p.Pro148=) | |
| 5 | g.177992947G>T | CA362378713 | PROP1 | c.443C>A (p.Pro148Gln) | COSMIC |
| 5 | g.177992948G>A | CA362378716 | PROP1 | c.442C>T (p.Pro148Ser) | |
| 5 | g.177992948G>C | CA362378717 | PROP1 | c.442C>G (p.Pro148Ala) | |
| 5 | g.177992948G>T | CA362378718 | PROP1 | c.442C>A (p.Pro148Thr) | |
| 5 | g.177992949C>A | CA362378719 | PROP1 | c.441G>T (p.Leu147Phe) | |
| 5 | g.177992949C>G | CA362378720 | PROP1 | c.441G>C (p.Leu147Phe) | |
| 5 | g.177992949C>T | CA448355162 | PROP1 | c.441G>A (p.Leu147=) | |
| 5 | g.177992950A>C | CA362378721 | PROP1 | c.440T>G (p.Leu147Trp) | |
| 5 | g.177992950A>G | CA362378722 | PROP1 | c.440T>C (p.Leu147Ser) | |
| 5 | g.177992950A>T | CA362378723 | PROP1 | c.440T>A (p.Leu147Ter) | |
| 5 | g.177992953_177992955del | CA2769598627 | PROP1 | c.438_440del (p.Phe146del) | |
| 5 | g.177992951A= | CA1603814056 | PROP1 | c.439T= (p.Leu147=) | |
| 5 | g.177992951A>C | CA362378724 | PROP1 | c.439T>G (p.Leu147Val) | |
| 5 | g.177992951A>G | CA448355168 | PROP1 | c.439T>C (p.Leu147=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177992951A>T | CA362378725 | PROP1 | c.439T>A (p.Leu147Met) | |
| 5 | g.177992952G>A | CA448355172 | PROP1 | c.438C>T (p.Phe146=) | |
| 5 | g.177992952G>C | CA362378726 | PROP1 | c.438C>G (p.Phe146Leu) | |
| 5 | g.177992952G>T | CA362378727 | PROP1 | c.438C>A (p.Phe146Leu) | |
| 5 | g.177992953A>C | CA362378730 | PROP1 | c.437T>G (p.Phe146Cys) | |
| 5 | g.177992953A>G | CA362378729 | PROP1 | c.437T>C (p.Phe146Ser) | |
| 5 | g.177992953A>T | CA362378728 | PROP1 | c.437T>A (p.Phe146Tyr) | |
| 5 | g.177992954A= | CA1603814057 | PROP1 | c.436T= (p.Phe146=) | |
| 5 | g.177992954A>C | CA362378731 | PROP1 | c.436T>G (p.Phe146Val) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992954A>G | CA362378732 | PROP1 | c.436T>C (p.Phe146Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992954A>T | CA362378733 | PROP1 | c.436T>A (p.Phe146Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992955G>A | CA448355184 | PROP1 | c.435C>T (p.Ser145=) | |
| 5 | g.177992955G>C | CA362378734 | PROP1 | c.435C>G (p.Ser145Arg) | |
| 5 | g.177992955G>T | CA362378735 | PROP1 | c.435C>A (p.Ser145Arg) | |
| 5 | g.177992956C>A | CA362378738 | PROP1 | c.434G>T (p.Ser145Ile) | dbSNP |
| 5 | g.177992956C= | CA1603814058 | PROP1 | c.434G= (p.Ser145=) | |
| 5 | g.177992956C>G | CA362378737 | PROP1 | c.434G>C (p.Ser145Thr) | |
| 5 | g.177992956C>T | CA362378736 | PROP1 | c.434G>A (p.Ser145Asn) | |
| 5 | g.177992957T>A | CA362378739 | PROP1 | c.433A>T (p.Ser145Cys) | |
| 5 | g.177992957T>C | CA362378740 | PROP1 | c.433A>G (p.Ser145Gly) | gnomAD v4 |
| 5 | g.177992957T>G | CA362378741 | PROP1 | c.433A>C (p.Ser145Arg) | |
| 5 | g.177992958G>A | CA448355197 | PROP1 | c.432C>T (p.Ser144=) | |
| 5 | g.177992958G>C | CA448355201 | PROP1 | c.432C>G (p.Ser144=) | |
| 5 | g.177992958G>T | CA448355199 | PROP1 | c.432C>A (p.Ser144=) | |
| 5 | g.177992959G>A | CA362378742 | PROP1 | c.431C>T (p.Ser144Phe) | gnomAD v4 |
| 5 | g.177992959G>C | CA362378743 | PROP1 | c.431C>G (p.Ser144Cys) | |
| 5 | g.177992959G>T | CA362378744 | PROP1 | c.431C>A (p.Ser144Tyr) | |
| 5 | g.177992960A>C | CA362378745 | PROP1 | c.430T>G (p.Ser144Ala) | |
| 5 | g.177992960A>G | CA362378747 | PROP1 | c.430T>C (p.Ser144Pro) | |
| 5 | g.177992960A>T | CA362378746 | PROP1 | c.430T>A (p.Ser144Thr) | gnomAD v4 |
| 5 | g.177992963del | CA2676775129 | PROP1 | c.430del (p.Ser144ProfsTer21) | gnomAD v4 |
| 5 | g.177992961A>C | CA362378748 | PROP1 | c.429T>G (p.Phe143Leu) | |
| 5 | g.177992961A>G | CA448355212 | PROP1 | c.429T>C (p.Phe143=) | |
| 5 | g.177992961A>T | CA362378749 | PROP1 | c.429T>A (p.Phe143Leu) | |
| 5 | g.177992962A>C | CA362378750 | PROP1 | c.428T>G (p.Phe143Cys) | |
| 5 | g.177992962A>G | CA362378751 | PROP1 | c.428T>C (p.Phe143Ser) | |
| 5 | g.177992962A>T | CA362378752 | PROP1 | c.428T>A (p.Phe143Tyr) | |
| 5 | g.177992963A>C | CA362378753 | PROP1 | c.427T>G (p.Phe143Val) | |
| 5 | g.177992963A>G | CA362378754 | PROP1 | c.427T>C (p.Phe143Leu) | |
| 5 | g.177992963A>T | CA362378755 | PROP1 | c.427T>A (p.Phe143Ile) | |
| 5 | g.177992964G>A | CA132897332 | PROP1 | c.426C>T (p.Ala142=) | ClinVar dbSNP |
| 5 | g.177992964G>C | CA448355214 | PROP1 | c.426C>G (p.Ala142=) | |
| 5 | g.177992964G= | CA1603814059 | PROP1 | c.426C= (p.Ala142=) | |
| 5 | g.177992964G>T | CA448355216 | PROP1 | c.426C>A (p.Ala142=) | ClinVar |
| 5 | g.177992965G>A | CA243388 | PROP1 | c.425C>T (p.Ala142Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992965G>C | CA362378756 | PROP1 | c.425C>G (p.Ala142Gly) | |
| 5 | g.177992965G= | CA1603814060 | PROP1 | c.425C= (p.Ala142=) | |
| 5 | g.177992965G>T | CA362378757 | PROP1 | c.425C>A (p.Ala142Asp) | |
| 5 | g.177992966C>A | CA362378759 | PROP1 | c.424G>T (p.Ala142Ser) | |
| 5 | g.177992966C= | CA1603814061 | PROP1 | c.424G= (p.Ala142=) | |
| 5 | g.177992966C>G | CA362378758 | PROP1 | c.424G>C (p.Ala142Pro) | |
| 5 | g.177992966C>T | CA202375 | PROP1 | c.424G>A (p.Ala142Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992967G>A | CA3587526 | PROP1 | c.423C>T (p.Ala141=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.177992967G>C | CA448355228 | PROP1 | c.423C>G (p.Ala141=) | |
| 5 | g.177992967G= | CA1603814062 | PROP1 | c.423C= (p.Ala141=) | |
| 5 | g.177992967G>T | CA448355230 | PROP1 | c.423C>A (p.Ala141=) | |
| 5 | g.177992968G>A | CA362378762 | PROP1 | c.422C>T (p.Ala141Val) | gnomAD v4 |
| 5 | g.177992968G>C | CA362378760 | PROP1 | c.422C>G (p.Ala141Gly) | |
| 5 | g.177992968G>T | CA362378761 | PROP1 | c.422C>A (p.Ala141Asp) | |
| 5 | g.177992969C>A | CA362378763 | PROP1 | c.421G>T (p.Ala141Ser) | |
| 5 | g.177992969C= | CA1603814063 | PROP1 | c.421G= (p.Ala141=) | |
| 5 | g.177992969C>G | CA362378764 | PROP1 | c.421G>C (p.Ala141Pro) | dbSNP |
| 5 | g.177992969C>T | CA362378765 | PROP1 | c.421G>A (p.Ala141Thr) | |
| 5 | g.177992970A= | CA1603814064 | PROP1 | c.420T= (p.Pro140=) | |
| 5 | g.177992970A>C | CA448355239 | PROP1 | c.420T>G (p.Pro140=) | |
| 5 | g.177992970A>G | CA448355243 | PROP1 | c.420T>C (p.Pro140=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992970A>T | CA448355241 | PROP1 | c.420T>A (p.Pro140=) | |
| 5 | g.177992971G>A | CA362378768 | PROP1 | c.419C>T (p.Pro140Leu) | |
| 5 | g.177992971G>C | CA362378767 | PROP1 | c.419C>G (p.Pro140Arg) | |
| 5 | g.177992971G>T | CA362378766 | PROP1 | c.419C>A (p.Pro140His) | |
| 5 | g.177992972G>A | CA362378769 | PROP1 | c.418C>T (p.Pro140Ser) | gnomAD v4 |
| 5 | g.177992972G>C | CA362378770 | PROP1 | c.418C>G (p.Pro140Ala) | |
| 5 | g.177992972G>T | CA362378771 | PROP1 | c.418C>A (p.Pro140Thr) | |
| 5 | g.177992973A>C | CA448355253 | PROP1 | c.417T>G (p.Ser139=) | |
| 5 | g.177992973A>G | CA448355254 | PROP1 | c.417T>C (p.Ser139=) | |
| 5 | g.177992973A>T | CA448355257 | PROP1 | c.417T>A (p.Ser139=) | |
| 5 | g.177992974G>A | CA3587527 | PROP1 | c.416C>T (p.Ser139Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992974G>C | CA362378772 | PROP1 | c.416C>G (p.Ser139Cys) | |
| 5 | g.177992974G= | CA1603814065 | PROP1 | c.416C= (p.Ser139=) | |
| 5 | g.177992974G>T | CA362378773 | PROP1 | c.416C>A (p.Ser139Tyr) | |
| 5 | g.177992975A>C | CA362378776 | PROP1 | c.415T>G (p.Ser139Ala) | |
| 5 | g.177992975A>G | CA362378774 | PROP1 | c.415T>C (p.Ser139Pro) | |
| 5 | g.177992975A>T | CA362378775 | PROP1 | c.415T>A (p.Ser139Thr) | |
| 5 | g.177992976C>A | CA448355265 | PROP1 | c.414G>T (p.Leu138=) | |
| 5 | g.177992976C= | CA1603814066 | PROP1 | c.414G= (p.Leu138=) | |
| 5 | g.177992976C>G | CA448355267 | PROP1 | c.414G>C (p.Leu138=) | |
| 5 | g.177992976C>T | CA448355269 | PROP1 | c.414G>A (p.Leu138=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177992977A>C | CA362378777 | PROP1 | c.413T>G (p.Leu138Arg) | |
| 5 | g.177992977A>G | CA362378778 | PROP1 | c.413T>C (p.Leu138Pro) | |
| 5 | g.177992977A>T | CA362378779 | PROP1 | c.413T>A (p.Leu138Gln) | |
| 5 | g.177992978G>A | CA448355276 | PROP1 | c.412C>T (p.Leu138=) | dbSNP |
| 5 | g.177992978G>C | CA362378780 | PROP1 | c.412C>G (p.Leu138Val) | |
| 5 | g.177992978G= | CA1603814067 | PROP1 | c.412C= (p.Leu138=) | |
| 5 | g.177992978G>T | CA362378781 | PROP1 | c.412C>A (p.Leu138Met) | |
| 5 | g.177992979A= | CA1603814069 | PROP1 | c.411T= (p.His137=) | |
| 5 | g.177992979A>C | CA362378782 | PROP1 | c.411T>G (p.His137Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992979A>G | CA448355281 | PROP1 | c.411T>C (p.His137=) | ClinVar dbSNP |
| 5 | g.177992979A>T | CA362378783 | PROP1 | c.411T>A (p.His137Gln) | |
| 5 | g.177992979_177992984dup | CA1603814068 | PROP1 | c.406_411dup (p.His137_Leu138insAlaHis) | dbSNP |
| 5 | g.177992980T>A | CA362378784 | PROP1 | c.410A>T (p.His137Leu) | |
| 5 | g.177992980T>C | CA362378785 | PROP1 | c.410A>G (p.His137Arg) | gnomAD v4 |
| 5 | g.177992980T>G | CA362378786 | PROP1 | c.410A>C (p.His137Pro) | |
| 5 | g.177992981G>A | CA362378787 | PROP1 | c.409C>T (p.His137Tyr) | gnomAD v4 |
| 5 | g.177992981G>C | CA362378788 | PROP1 | c.409C>G (p.His137Asp) | |
| 5 | g.177992981G>T | CA362378789 | PROP1 | c.409C>A (p.His137Asn) | |
| 5 | g.177992982G>A | CA448355293 | PROP1 | c.408C>T (p.Ala136=) | gnomAD v4 |
| 5 | g.177992982G>C | CA448355295 | PROP1 | c.408C>G (p.Ala136=) | |
| 5 | g.177992982G>T | CA448355297 | PROP1 | c.408C>A (p.Ala136=) | ClinVar gnomAD v4 |
| 5 | g.177992983G>A | CA362378792 | PROP1 | c.407C>T (p.Ala136Val) | |
| 5 | g.177992983G>C | CA362378790 | PROP1 | c.407C>G (p.Ala136Gly) | |
| 5 | g.177992983G>T | CA362378791 | PROP1 | c.407C>A (p.Ala136Asp) | |
| 5 | g.177992984C>A | CA362378793 | PROP1 | c.406G>T (p.Ala136Ser) | dbSNP |
| 5 | g.177992984C= | CA1603814070 | PROP1 | c.406G= (p.Ala136=) | |
| 5 | g.177992984C>G | CA362378794 | PROP1 | c.406G>C (p.Ala136Pro) | |
| 5 | g.177992984C>T | CA362378795 | PROP1 | c.406G>A (p.Ala136Thr) | |
| 5 | g.177992985C>A | CA448355307 | PROP1 | c.405G>T (p.Leu135=) | |
| 5 | g.177992985C>G | CA448355308 | PROP1 | c.405G>C (p.Leu135=) | |
| 5 | g.177992985C>T | CA448355311 | PROP1 | c.405G>A (p.Leu135=) | |
| 5 | g.177992986A>C | CA362378796 | PROP1 | c.404T>G (p.Leu135Arg) | |
| 5 | g.177992986A>G | CA362378797 | PROP1 | c.404T>C (p.Leu135Pro) | |
| 5 | g.177992986A>T | CA362378798 | PROP1 | c.404T>A (p.Leu135Gln) | |
| 5 | g.177992987G>A | CA448355318 | PROP1 | c.403C>T (p.Leu135=) | |
| 5 | g.177992987G>C | CA3587528 | PROP1 | c.403C>G (p.Leu135Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992987G= | CA1603814071 | PROP1 | c.403C= (p.Leu135=) | |
| 5 | g.177992987G>T | CA362378799 | PROP1 | c.403C>A (p.Leu135Met) | |
| 5 | g.177992988A>C | CA448355322 | PROP1 | c.402T>G (p.Pro134=) | |
| 5 | g.177992988A>G | CA448355323 | PROP1 | c.402T>C (p.Pro134=) | |
| 5 | g.177992988A>T | CA448355325 | PROP1 | c.402T>A (p.Pro134=) | |
| 5 | g.177992989G>A | CA362378800 | PROP1 | c.401C>T (p.Pro134Leu) | |
| 5 | g.177992989G>C | CA362378801 | PROP1 | c.401C>G (p.Pro134Arg) | |
| 5 | g.177992989G>T | CA362378802 | PROP1 | c.401C>A (p.Pro134His) | |
| 5 | g.177992990G>A | CA362378803 | PROP1 | c.400C>T (p.Pro134Ser) | gnomAD v4 |
| 5 | g.177992990G>C | CA362378804 | PROP1 | c.400C>G (p.Pro134Ala) | |
| 5 | g.177992990G>T | CA362378805 | PROP1 | c.400C>A (p.Pro134Thr) | |
| 5 | g.177992991C>A | CA362378806 | PROP1 | c.399G>T (p.Gln133His) | |
| 5 | g.177992991C>G | CA362378807 | PROP1 | c.399G>C (p.Gln133His) | |
| 5 | g.177992991C>T | CA448355337 | PROP1 | c.399G>A (p.Gln133=) | gnomAD v4 |
| 5 | g.177992992T>A | CA362378808 | PROP1 | c.398A>T (p.Gln133Leu) | |
| 5 | g.177992992T>C | CA362378809 | PROP1 | c.398A>G (p.Gln133Arg) | |
| 5 | g.177992992T>G | CA362378810 | PROP1 | c.398A>C (p.Gln133Pro) | |
| 5 | g.177992993G>A | CA362378811 | PROP1 | c.397C>T (p.Gln133Ter) | gnomAD v4 |
| 5 | g.177992993G>C | CA362378812 | PROP1 | c.397C>G (p.Gln133Glu) | |
| 5 | g.177992993G>T | CA362378813 | PROP1 | c.397C>A (p.Gln133Lys) | |
| 5 | g.177992994A>C | CA448355350 | PROP1 | c.396T>G (p.Leu132=) | |
| 5 | g.177992994A>G | CA448355352 | PROP1 | c.396T>C (p.Leu132=) | ClinVar |
| 5 | g.177992994A>T | CA448355353 | PROP1 | c.396T>A (p.Leu132=) | |
| 5 | g.177992995A= | CA1603814072 | PROP1 | c.395T= (p.Leu132=) | |
| 5 | g.177992995A>C | CA362378814 | PROP1 | c.395T>G (p.Leu132Arg) | dbSNP gnomAD v4 |
| 5 | g.177992995A>G | CA362378815 | PROP1 | c.395T>C (p.Leu132Pro) | |
| 5 | g.177992995A>T | CA362378816 | PROP1 | c.395T>A (p.Leu132His) | |
| 5 | g.177992996G>A | CA362378817 | PROP1 | c.394C>T (p.Leu132Phe) | |
| 5 | g.177992996G>C | CA362378818 | PROP1 | c.394C>G (p.Leu132Val) | |
| 5 | g.177992996G>T | CA362378819 | PROP1 | c.394C>A (p.Leu132Ile) | |
| 5 | g.177992997C>A | CA448355368 | PROP1 | c.393G>T (p.Leu131=) | |
| 5 | g.177992997C= | CA1603814073 | PROP1 | c.393G= (p.Leu131=) | |
| 5 | g.177992997C>G | CA448355364 | PROP1 | c.393G>C (p.Leu131=) | |
| 5 | g.177992997C>T | CA448355366 | PROP1 | c.393G>A (p.Leu131=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.177992998A>C | CA362378820 | PROP1 | c.392T>G (p.Leu131Arg) | |
| 5 | g.177992998A>G | CA362378822 | PROP1 | c.392T>C (p.Leu131Pro) | gnomAD v4 |
| 5 | g.177992998A>T | CA362378821 | PROP1 | c.392T>A (p.Leu131Gln) | |
| 5 | g.177992998_177993000delinsAGT | CA1603814074 | PROP1 | c.390_392delinsACT (p.Ser130=) | |
| 5 | g.177992999G>A | CA448355375 | PROP1 | c.391C>T (p.Leu131=) | ClinVar dbSNP |
| 5 | g.177992999G>C | CA362378823 | PROP1 | c.391C>G (p.Leu131Val) | |
| 5 | g.177992999G= | CA1603814075 | PROP1 | c.391C= (p.Leu131=) | |
| 5 | g.177992999G>T | CA362378824 | PROP1 | c.391C>A (p.Leu131Met) | |
| 5 | g.177993000_177993001del | CA16041002 | PROP1 | c.390_391del (p.Leu131AlafsTer?) | ClinVar dbSNP |
| 5 | g.177993000T>A | CA448355378 | PROP1 | c.390A>T (p.Ser130=) | |
| 5 | g.177993000T>C | CA448355379 | PROP1 | c.390A>G (p.Ser130=) | ClinVar dbSNP |
| 5 | g.177993000T>G | CA448355382 | PROP1 | c.390A>C (p.Ser130=) | ClinVar |
| 5 | g.177993001G>A | CA362378825 | PROP1 | c.389C>T (p.Ser130Leu) | |
| 5 | g.177993001G>C | CA362378826 | PROP1 | c.389C>G (p.Ser130Ter) | |
| 5 | g.177993001G>T | CA362378827 | PROP1 | c.389C>A (p.Ser130Ter) | |
| 5 | g.177993002A= | CA1603814076 | PROP1 | c.388T= (p.Ser130=) | |
| 5 | g.177993002A>C | CA362378830 | PROP1 | c.388T>G (p.Ser130Ala) | |
| 5 | g.177993002A>G | CA362378829 | PROP1 | c.388T>C (p.Ser130Pro) | |
| 5 | g.177993002A>T | CA362378828 | PROP1 | c.388T>A (p.Ser130Thr) | |
| 5 | g.177993002dup | CA913108654 | PROP1 | c.388dup (p.Ser130PhefsTer?) | |
| 5 | g.177993003G>A | CA448355394 | PROP1 | c.387C>T (p.Arg129=) | |
| 5 | g.177993003G>C | CA448355395 | PROP1 | c.387C>G (p.Arg129=) | |
| 5 | g.177993003G>T | CA448355397 | PROP1 | c.387C>A (p.Arg129=) | gnomAD v4 |
| 5 | g.177993005_177993006dup | CA658822671 | PROP1 | c.386_387dup (p.Ser130AlafsTer?) | ClinVar dbSNP gnomAD v4 |
| 5 | g.177993004C>A | CA362378831 | PROP1 | c.386G>T (p.Arg129Leu) | |
| 5 | g.177993004C= | CA1603814077 | PROP1 | c.386G= (p.Arg129=) | |
| 5 | g.177993004C>G | CA362378832 | PROP1 | c.386G>C (p.Arg129Pro) | |
| 5 | g.177993004C>T | CA3587529 | PROP1 | c.386G>A (p.Arg129His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177993005G>A | CA3587530 | PROP1 | c.385C>T (p.Arg129Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177993005G>C | CA362378833 | PROP1 | c.385C>G (p.Arg129Gly) | |
| 5 | g.177993005G= | CA1603814078 | PROP1 | c.385C= (p.Arg129=) | |
| 5 | g.177993005G>T | CA362378834 | PROP1 | c.385C>A (p.Arg129Ser) | |
| 5 | g.177993006C>A | CA362378835 | PROP1 | c.384G>T (p.Glu128Asp) | |
| 5 | g.177993006C= | CA1603814079 | PROP1 | c.384G= (p.Glu128=) | |
| 5 | g.177993006C>G | CA3587532 | PROP1 | c.384G>C (p.Glu128Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177993006C>T | CA3587531 | PROP1 | c.384G>A (p.Glu128=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177993007T>A | CA362378836 | PROP1 | c.383A>T (p.Glu128Val) | |
| 5 | g.177993007T>C | CA362378837 | PROP1 | c.383A>G (p.Glu128Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177993007T>G | CA362378838 | PROP1 | c.383A>C (p.Glu128Ala) | |
| 5 | g.177993007T= | CA1603814080 | PROP1 | c.383A= (p.Glu128=) | |
| 5 | g.177993008C>A | CA362378839 | PROP1 | c.382G>T (p.Glu128Ter) | |
| 5 | g.177993008C= | CA1603814081 | PROP1 | c.382G= (p.Glu128=) | |
| 5 | g.177993008C>G | CA362378840 | PROP1 | c.382G>C (p.Glu128Gln) | gnomAD v4 |
| 5 | g.177993008C>T | CA362378841 | PROP1 | c.382G>A (p.Glu128Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177993009T>A | CA362378842 | PROP1 | c.381A>T (p.Gln127His) | |
| 5 | g.177993009T>C | CA448355418 | PROP1 | c.381A>G (p.Gln127=) | |
| 5 | g.177993009T>G | CA362378843 | PROP1 | c.381A>C (p.Gln127His) | |
| 5 | g.177993010T>A | CA362378844 | PROP1 | c.380A>T (p.Gln127Leu) | |
| 5 | g.177993010T>C | CA362378845 | PROP1 | c.380A>G (p.Gln127Arg) | |
| 5 | g.177993010T>G | CA362378846 | PROP1 | c.380A>C (p.Gln127Pro) | |
| 5 | g.177993011G>A | CA362378847 | PROP1 | c.379C>T (p.Gln127Ter) | |
| 5 | g.177993011G>C | CA362378849 | PROP1 | c.379C>G (p.Gln127Glu) | |
| 5 | g.177993011G= | CA1603814082 | PROP1 | c.379C= (p.Gln127=) | |
| 5 | g.177993011G>T | CA362378848 | PROP1 | c.379C>A (p.Gln127Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177993012C>A | CA362378850 | PROP1 | c.378G>T (p.Lys126Asn) | gnomAD v4 |
| 5 | g.177993012C= | CA1603814083 | PROP1 | c.378G= (p.Lys126=) | |
| 5 | g.177993012C>G | CA3587533 | PROP1 | c.378G>C (p.Lys126Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177993012C>T | CA448355431 | PROP1 | c.378G>A (p.Lys126=) | COSMIC |
| 5 | g.177993013T>A | CA362378851 | PROP1 | c.377A>T (p.Lys126Met) | |
| 5 | g.177993013T>C | CA362378852 | PROP1 | c.377A>G (p.Lys126Arg) | |
| 5 | g.177993013T>G | CA362378853 | PROP1 | c.377A>C (p.Lys126Thr) | |
| 5 | g.177993014T>A | CA362378854 | PROP1 | c.376A>T (p.Lys126Ter) | |
| 5 | g.177993014T>C | CA362378855 | PROP1 | c.376A>G (p.Lys126Glu) | |
| 5 | g.177993014T>G | CA362378856 | PROP1 | c.376A>C (p.Lys126Gln) | |
| 5 | g.177993015C>A | CA448355443 | PROP1 | c.375G>T (p.Arg125=) | |
| 5 | g.177993015C>G | CA448355445 | PROP1 | c.375G>C (p.Arg125=) | |
| 5 | g.177993015C>T | CA448355447 | PROP1 | c.375G>A (p.Arg125=) | |
| 5 | g.177993015_177993016delinsTT | CA645563836 | PROP1 | c.374_375delinsAA (p.Arg125Gln) | COSMIC |
| 5 | g.177993016C>A | CA362378857 | PROP1 | c.374G>T (p.Arg125Leu) | |
| 5 | g.177993016C= | CA1603814084 | PROP1 | c.374G= (p.Arg125=) | |
| 5 | g.177993016C>G | CA362378858 | PROP1 | c.374G>C (p.Arg125Pro) | |
| 5 | g.177993016C>T | CA3587534 | PROP1 | c.374G>A (p.Arg125Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177993017G>A | CA132897376 | PROP1 | c.373C>T (p.Arg125Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177993017G>C | CA362378859 | PROP1 | c.373C>G (p.Arg125Gly) | |
| 5 | g.177993017G= | CA1603814085 | PROP1 | c.373C= (p.Arg125=) | |
| 5 | g.177993017G>T | CA448355456 | PROP1 | c.373C>A (p.Arg125=) | |
| 5 | g.177993018T>A | CA362378860 | PROP1 | c.372A>T (p.Gln124His) | |
| 5 | g.177993018T>C | CA448355461 | PROP1 | c.372A>G (p.Gln124=) | |
| 5 | g.177993018T>G | CA362378861 | PROP1 | c.372A>C (p.Gln124His) | |
| 5 | g.177993019T>A | CA362378862 | PROP1 | c.371A>T (p.Gln124Leu) | |
| 5 | g.177993019T>C | CA362378863 | PROP1 | c.371A>G (p.Gln124Arg) | |
| 5 | g.177993019T>G | CA362378864 | PROP1 | c.371A>C (p.Gln124Pro) | |
| 5 | g.177993020G>A | CA362378865 | PROP1 | c.370C>T (p.Gln124Ter) | |
| 5 | g.177993020G>C | CA362378866 | PROP1 | c.370C>G (p.Gln124Glu) | |
| 5 | g.177993020G>T | CA362378867 | PROP1 | c.370C>A (p.Gln124Lys) | |
| 5 | g.177993021C>A | CA362378868 | PROP1 | c.369G>T (p.Lys123Asn) | |
| 5 | g.177993021C>G | CA362378869 | PROP1 | c.369G>C (p.Lys123Asn) | |
| 5 | g.177993021C>T | CA448355473 | PROP1 | c.369G>A (p.Lys123=) | |
| 5 | g.177993022T>A | CA362378870 | PROP1 | c.368A>T (p.Lys123Met) | |
| 5 | g.177993022T>C | CA362378871 | PROP1 | c.368A>G (p.Lys123Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177993022T>G | CA362378872 | PROP1 | c.368A>C (p.Lys123Thr) | |
| 5 | g.177993022T= | CA1603814086 | PROP1 | c.368A= (p.Lys123=) | |
| 5 | g.177993023T>A | CA362378875 | PROP1 | c.367A>T (p.Lys123Ter) | |
| 5 | g.177993023T>C | CA362378874 | PROP1 | c.367A>G (p.Lys123Glu) | dbSNP |
| 5 | g.177993023T>G | CA362378873 | PROP1 | c.367A>C (p.Lys123Gln) | |
| 5 | g.177993023T= | CA1603814087 | PROP1 | c.367A= (p.Lys123=) | |
| 5 | g.177993024A= | CA1603814088 | PROP1 | c.366T= (p.Ala122=) | |
| 5 | g.177993024A>C | CA448355482 | PROP1 | c.366T>G (p.Ala122=) | |
| 5 | g.177993024A>G | CA448355483 | PROP1 | c.366T>C (p.Ala122=) | |
| 5 | g.177993024A>T | CA448355486 | PROP1 | c.366T>A (p.Ala122=) | dbSNP gnomAD v4 |
| 5 | g.177993025G>A | CA362378876 | PROP1 | c.365C>T (p.Ala122Val) | |
| 5 | g.177993025G>C | CA362378878 | PROP1 | c.365C>G (p.Ala122Gly) | |
| 5 | g.177993025G>T | CA362378877 | PROP1 | c.365C>A (p.Ala122Asp) | |
| 5 | g.177993026C>A | CA362378879 | PROP1 | c.364G>T (p.Ala122Ser) | |
| 5 | g.177993026C= | CA1603814089 | PROP1 | c.364G= (p.Ala122=) | |
| 5 | g.177993026C>G | CA362378881 | PROP1 | c.364G>C (p.Ala122Pro) | |
| 5 | g.177993026C>T | CA362378880 | PROP1 | c.364G>A (p.Ala122Thr) | dbSNP |
| 5 | g.177993027T>A | CA362378882 | PROP1 | c.363A>T (p.Arg121Ser) | |
| 5 | g.177993027T>C | CA448355496 | PROP1 | c.363A>G (p.Arg121=) | |
| 5 | g.177993027T>G | CA362378883 | PROP1 | c.363A>C (p.Arg121Ser) | |
| 5 | g.177993028C>A | CA362378884 | PROP1 | c.362G>T (p.Arg121Ile) | |
| 5 | g.177993028C= | CA1603814090 | PROP1 | c.362G= (p.Arg121=) | |
| 5 | g.177993028C>G | CA362378885 | PROP1 | c.362G>C (p.Arg121Thr) | |
| 5 | g.177993028C>T | CA132897378 | PROP1 | c.362G>A (p.Arg121Lys) | dbSNP |
| 5 | g.177993029T>A | CA362378886 | PROP1 | c.361A>T (p.Arg121Ter) | |
| 5 | g.177993029T>C | CA362378887 | PROP1 | c.361A>G (p.Arg121Gly) | |
| 5 | g.177993029T>G | CA448355506 | PROP1 | c.361A>C (p.Arg121=) | |
| 5 | g.177993030G>A | CA448355509 | PROP1 | c.360C>T (p.Arg120=) | |
| 5 | g.177993030G>C | CA448355511 | PROP1 | c.360C>G (p.Arg120=) | |
| 5 | g.177993030G>T | CA448355513 | PROP1 | c.360C>A (p.Arg120=) | |
| 5 | g.177993031C>A | CA362378888 | PROP1 | c.359G>T (p.Arg120Leu) | gnomAD v4 |
| 5 | g.177993031C= | CA1603814091 | PROP1 | c.359G= (p.Arg120=) | |
| 5 | g.177993031C>G | CA362378889 | PROP1 | c.359G>C (p.Arg120Pro) | |
| 5 | g.177993031C>T | CA16044117 | PROP1 | c.359G>A (p.Arg120His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.177993032G>A | CA340722 | PROP1 | c.358C>T (p.Arg120Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.177993032G>C | CA362378891 | PROP1 | c.358C>G (p.Arg120Gly) | |
| 5 | g.177993032G= | CA1603814092 | PROP1 | c.358C= (p.Arg120=) | |
| 5 | g.177993032G>T | CA362378890 | PROP1 | c.358C>A (p.Arg120Ser) | |
| 5 | g.177993033G>A | CA3587535 | PROP1 | c.357C>T (p.Asn119=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177993033G>C | CA362378892 | PROP1 | c.357C>G (p.Asn119Lys) | |
| 5 | g.177993033G= | CA1603814093 | PROP1 | c.357C= (p.Asn119=) | |
| 5 | g.177993033G>T | CA362378893 | PROP1 | c.357C>A (p.Asn119Lys) | |
| 5 | g.177993034T>A | CA362378894 | PROP1 | c.356A>T (p.Asn119Ile) | |
| 5 | g.177993034T>C | CA362378895 | PROP1 | c.356A>G (p.Asn119Ser) | |
| 5 | g.177993034T>G | CA362378896 | PROP1 | c.356A>C (p.Asn119Thr) | |
| 5 | g.177993035T>A | CA362378897 | PROP1 | c.355A>T (p.Asn119Tyr) | |
| 5 | g.177993035T>C | CA362378898 | PROP1 | c.355A>G (p.Asn119Asp) | |
| 5 | g.177993035T>G | CA362378899 | PROP1 | c.355A>C (p.Asn119His) | |
| 5 | g.177993036C>A | CA362378900 | PROP1 | c.354G>T (p.Gln118His) | |
| 5 | g.177993036C>G | CA362378901 | PROP1 | c.354G>C (p.Gln118His) | |
| 5 | g.177993036C>T | CA448355538 | PROP1 | c.354G>A (p.Gln118=) | ClinVar |
| 5 | g.177993037T>A | CA362378904 | PROP1 | c.353A>T (p.Gln118Leu) | |
| 5 | g.177993037T>C | CA362378903 | PROP1 | c.353A>G (p.Gln118Arg) | |
| 5 | g.177993037T>G | CA362378902 | PROP1 | c.353A>C (p.Gln118Pro) | |
| 5 | g.177993038G>A | CA362378905 | PROP1 | c.352C>T (p.Gln118Ter) | ClinVar dbSNP |
| 5 | g.177993038G>C | CA362378906 | PROP1 | c.352C>G (p.Gln118Glu) | |
| 5 | g.177993038G>T | CA362378907 | PROP1 | c.352C>A (p.Gln118Lys) | |
| 5 | g.177993039G>A | CA448355549 | PROP1 | c.351C>T (p.Phe117=) | |
| 5 | g.177993039G>C | CA362378908 | PROP1 | c.351C>G (p.Phe117Leu) | |
| 5 | g.177993039G>T | CA362378909 | PROP1 | c.351C>A (p.Phe117Leu) | |
| 5 | g.177993040A>C | CA362378910 | PROP1 | c.350T>G (p.Phe117Cys) | |
| 5 | g.177993040A>G | CA362378911 | PROP1 | c.350T>C (p.Phe117Ser) | |
| 5 | g.177993040A>T | CA362378912 | PROP1 | c.350T>A (p.Phe117Tyr) |