WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.13280999C>A | CA376051215 | PHYH | c.940G>T (p.Ala314Ser) c.640G>T (p.Ala214Ser) c.889G>T (p.Ala297Ser) c.721G>T (p.Ala241Ser) c.946G>T (p.Ala316Ser) c.676G>T (p.Ala226Ser) c.646G>T (p.Ala216Ser) | |
| 10 | g.13280999C>G | CA376051214 | PHYH | c.940G>C (p.Ala314Pro) c.640G>C (p.Ala214Pro) c.889G>C (p.Ala297Pro) c.721G>C (p.Ala241Pro) c.946G>C (p.Ala316Pro) c.676G>C (p.Ala226Pro) c.646G>C (p.Ala216Pro) | |
| 10 | g.13280999C>T | CA376051212 | PHYH | c.940G>A (p.Ala314Thr) c.640G>A (p.Ala214Thr) c.889G>A (p.Ala297Thr) c.721G>A (p.Ala241Thr) c.946G>A (p.Ala316Thr) c.676G>A (p.Ala226Thr) c.646G>A (p.Ala216Thr) | |
| 10 | g.13281000T>A | CA468246718 | PHYH | c.939A>T (p.Gly313=) c.639A>T (p.Gly213=) c.888A>T (p.Gly296=) c.720A>T (p.Gly240=) c.945A>T (p.Gly315=) c.675A>T (p.Gly225=) c.645A>T (p.Gly215=) | |
| 10 | g.13281000T>C | CA468246716 | PHYH | c.939A>G (p.Gly313=) c.639A>G (p.Gly213=) c.888A>G (p.Gly296=) c.720A>G (p.Gly240=) c.945A>G (p.Gly315=) c.675A>G (p.Gly225=) c.645A>G (p.Gly215=) | gnomAD v4 |
| 10 | g.13281000T>G | CA468246717 | PHYH | c.939A>C (p.Gly313=) c.639A>C (p.Gly213=) c.888A>C (p.Gly296=) c.720A>C (p.Gly240=) c.945A>C (p.Gly315=) c.675A>C (p.Gly225=) c.645A>C (p.Gly215=) | |
| 10 | g.13281001C>A | CA376051216 | PHYH | c.938G>T (p.Gly313Val) c.638G>T (p.Gly213Val) c.887G>T (p.Gly296Val) c.719G>T (p.Gly240Val) c.944G>T (p.Gly315Val) c.674G>T (p.Gly225Val) c.644G>T (p.Gly215Val) | |
| 10 | g.13281001C= | CA1891545884 | PHYH | c.938G= (p.Gly313=) c.638G= (p.Gly213=) c.887G= (p.Gly296=) c.719G= (p.Gly240=) c.944G= (p.Gly315=) c.674G= (p.Gly225=) c.644G= (p.Gly215=) | |
| 10 | g.13281001C>G | CA376051218 | PHYH | c.938G>C (p.Gly313Ala) c.638G>C (p.Gly213Ala) c.887G>C (p.Gly296Ala) c.719G>C (p.Gly240Ala) c.944G>C (p.Gly315Ala) c.674G>C (p.Gly225Ala) c.644G>C (p.Gly215Ala) | |
| 10 | g.13281001C>T | CA203334244 | PHYH | c.938G>A (p.Gly313Glu) c.638G>A (p.Gly213Glu) c.887G>A (p.Gly296Glu) c.719G>A (p.Gly240Glu) c.944G>A (p.Gly315Glu) c.674G>A (p.Gly225Glu) c.644G>A (p.Gly215Glu) | dbSNP |
| 10 | g.13281002C>A | CA376051221 | PHYH | c.937G>T (p.Gly313Ter) c.637G>T (p.Gly213Ter) c.886G>T (p.Gly296Ter) c.718G>T (p.Gly240Ter) c.943G>T (p.Gly315Ter) c.673G>T (p.Gly225Ter) c.643G>T (p.Gly215Ter) | |
| 10 | g.13281002C>G | CA376051223 | PHYH | c.937G>C (p.Gly313Arg) c.637G>C (p.Gly213Arg) c.886G>C (p.Gly296Arg) c.718G>C (p.Gly240Arg) c.943G>C (p.Gly315Arg) c.673G>C (p.Gly225Arg) c.643G>C (p.Gly215Arg) | |
| 10 | g.13281002C>T | CA376051225 | PHYH | c.937G>A (p.Gly313Arg) c.637G>A (p.Gly213Arg) c.886G>A (p.Gly296Arg) c.718G>A (p.Gly240Arg) c.943G>A (p.Gly315Arg) c.673G>A (p.Gly225Arg) c.643G>A (p.Gly215Arg) | |
| 10 | g.13281003A= | CA1891545885 | PHYH | c.936T= (p.Phe312=) c.636T= (p.Phe212=) c.885T= (p.Phe295=) c.717T= (p.Phe239=) c.942T= (p.Phe314=) c.672T= (p.Phe224=) c.642T= (p.Phe214=) | |
| 10 | g.13281003A>C | CA376051227 | PHYH | c.936T>G (p.Phe312Leu) c.636T>G (p.Phe212Leu) c.885T>G (p.Phe295Leu) c.717T>G (p.Phe239Leu) c.942T>G (p.Phe314Leu) c.672T>G (p.Phe224Leu) c.642T>G (p.Phe214Leu) | |
| 10 | g.13281003A>G | CA5412202 | PHYH | c.936T>C (p.Phe312=) c.636T>C (p.Phe212=) c.885T>C (p.Phe295=) c.717T>C (p.Phe239=) c.942T>C (p.Phe314=) c.672T>C (p.Phe224=) c.642T>C (p.Phe214=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13281003A>T | CA376051230 | PHYH | c.936T>A (p.Phe312Leu) c.636T>A (p.Phe212Leu) c.885T>A (p.Phe295Leu) c.717T>A (p.Phe239Leu) c.942T>A (p.Phe314Leu) c.672T>A (p.Phe224Leu) c.642T>A (p.Phe214Leu) | |
| 10 | g.13281004A= | CA1891545886 | PHYH | c.935T= (p.Phe312=) c.635T= (p.Phe212=) c.884T= (p.Phe295=) c.716T= (p.Phe239=) c.941T= (p.Phe314=) c.671T= (p.Phe224=) c.641T= (p.Phe214=) | |
| 10 | g.13281004A>C | CA376051232 | PHYH | c.935T>G (p.Phe312Cys) c.635T>G (p.Phe212Cys) c.884T>G (p.Phe295Cys) c.716T>G (p.Phe239Cys) c.941T>G (p.Phe314Cys) c.671T>G (p.Phe224Cys) c.641T>G (p.Phe214Cys) | |
| 10 | g.13281004A>G | CA376051234 | PHYH | c.935T>C (p.Phe312Ser) c.635T>C (p.Phe212Ser) c.884T>C (p.Phe295Ser) c.716T>C (p.Phe239Ser) c.941T>C (p.Phe314Ser) c.671T>C (p.Phe224Ser) c.641T>C (p.Phe214Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13281004A>T | CA376051236 | PHYH | c.935T>A (p.Phe312Tyr) c.635T>A (p.Phe212Tyr) c.884T>A (p.Phe295Tyr) c.716T>A (p.Phe239Tyr) c.941T>A (p.Phe314Tyr) c.671T>A (p.Phe224Tyr) c.641T>A (p.Phe214Tyr) | |
| 10 | g.13281005A>C | CA376051241 | PHYH | c.934T>G (p.Phe312Val) c.634T>G (p.Phe212Val) c.883T>G (p.Phe295Val) c.715T>G (p.Phe239Val) c.940T>G (p.Phe314Val) c.670T>G (p.Phe224Val) c.640T>G (p.Phe214Val) | |
| 10 | g.13281005A>G | CA376051242 | PHYH | c.934T>C (p.Phe312Leu) c.634T>C (p.Phe212Leu) c.883T>C (p.Phe295Leu) c.715T>C (p.Phe239Leu) c.940T>C (p.Phe314Leu) c.670T>C (p.Phe224Leu) c.640T>C (p.Phe214Leu) | |
| 10 | g.13281005A>T | CA376051239 | PHYH | c.934T>A (p.Phe312Ile) c.634T>A (p.Phe212Ile) c.883T>A (p.Phe295Ile) c.715T>A (p.Phe239Ile) c.940T>A (p.Phe314Ile) c.670T>A (p.Phe224Ile) c.640T>A (p.Phe214Ile) | |
| 10 | g.13281006G>A | CA468246721 | PHYH | c.933C>T (p.Phe311=) c.633C>T (p.Phe211=) c.882C>T (p.Phe294=) c.714C>T (p.Phe238=) c.939C>T (p.Phe313=) c.669C>T (p.Phe223=) c.639C>T (p.Phe213=) | |
| 10 | g.13281006G>C | CA376051244 | PHYH | c.933C>G (p.Phe311Leu) c.633C>G (p.Phe211Leu) c.882C>G (p.Phe294Leu) c.714C>G (p.Phe238Leu) c.939C>G (p.Phe313Leu) c.669C>G (p.Phe223Leu) c.639C>G (p.Phe213Leu) | |
| 10 | g.13281006G>T | CA376051246 | PHYH | c.933C>A (p.Phe311Leu) c.633C>A (p.Phe211Leu) c.882C>A (p.Phe294Leu) c.714C>A (p.Phe238Leu) c.939C>A (p.Phe313Leu) c.669C>A (p.Phe223Leu) c.639C>A (p.Phe213Leu) | |
| 10 | g.13281007A>C | CA376051248 | PHYH | c.932T>G (p.Phe311Cys) c.632T>G (p.Phe211Cys) c.881T>G (p.Phe294Cys) c.713T>G (p.Phe238Cys) c.938T>G (p.Phe313Cys) c.668T>G (p.Phe223Cys) c.638T>G (p.Phe213Cys) | |
| 10 | g.13281007A>G | CA376051250 | PHYH | c.932T>C (p.Phe311Ser) c.632T>C (p.Phe211Ser) c.881T>C (p.Phe294Ser) c.713T>C (p.Phe238Ser) c.938T>C (p.Phe313Ser) c.668T>C (p.Phe223Ser) c.638T>C (p.Phe213Ser) | |
| 10 | g.13281007A>T | CA376051252 | PHYH | c.932T>A (p.Phe311Tyr) c.632T>A (p.Phe211Tyr) c.881T>A (p.Phe294Tyr) c.713T>A (p.Phe238Tyr) c.938T>A (p.Phe313Tyr) c.668T>A (p.Phe223Tyr) c.638T>A (p.Phe213Tyr) | |
| 10 | g.13281008A>C | CA376051258 | PHYH | c.931T>G (p.Phe311Val) c.631T>G (p.Phe211Val) c.880T>G (p.Phe294Val) c.712T>G (p.Phe238Val) c.937T>G (p.Phe313Val) c.667T>G (p.Phe223Val) c.637T>G (p.Phe213Val) | |
| 10 | g.13281008A>G | CA376051254 | PHYH | c.931T>C (p.Phe311Leu) c.631T>C (p.Phe211Leu) c.880T>C (p.Phe294Leu) c.712T>C (p.Phe238Leu) c.937T>C (p.Phe313Leu) c.667T>C (p.Phe223Leu) c.637T>C (p.Phe213Leu) | |
| 10 | g.13281008A>T | CA376051256 | PHYH | c.931T>A (p.Phe311Ile) c.631T>A (p.Phe211Ile) c.880T>A (p.Phe294Ile) c.712T>A (p.Phe238Ile) c.937T>A (p.Phe313Ile) c.667T>A (p.Phe223Ile) c.637T>A (p.Phe213Ile) | |
| 10 | g.13281009T>A | CA376051259 | PHYH | c.930A>T (p.Lys310Asn) c.630A>T (p.Lys210Asn) c.879A>T (p.Lys293Asn) c.711A>T (p.Lys237Asn) c.936A>T (p.Lys312Asn) c.666A>T (p.Lys222Asn) c.636A>T (p.Lys212Asn) | |
| 10 | g.13281009T>C | CA468246722 | PHYH | c.930A>G (p.Lys310=) c.630A>G (p.Lys210=) c.879A>G (p.Lys293=) c.711A>G (p.Lys237=) c.936A>G (p.Lys312=) c.666A>G (p.Lys222=) c.636A>G (p.Lys212=) | gnomAD v4 |
| 10 | g.13281009T>G | CA376051260 | PHYH | c.930A>C (p.Lys310Asn) c.630A>C (p.Lys210Asn) c.879A>C (p.Lys293Asn) c.711A>C (p.Lys237Asn) c.936A>C (p.Lys312Asn) c.666A>C (p.Lys222Asn) c.636A>C (p.Lys212Asn) | |
| 10 | g.13281010T>A | CA376051262 | PHYH | c.929A>T (p.Lys310Ile) c.629A>T (p.Lys210Ile) c.878A>T (p.Lys293Ile) c.710A>T (p.Lys237Ile) c.935A>T (p.Lys312Ile) c.665A>T (p.Lys222Ile) c.635A>T (p.Lys212Ile) | |
| 10 | g.13281010T>C | CA376051264 | PHYH | c.929A>G (p.Lys310Arg) c.629A>G (p.Lys210Arg) c.878A>G (p.Lys293Arg) c.710A>G (p.Lys237Arg) c.935A>G (p.Lys312Arg) c.665A>G (p.Lys222Arg) c.635A>G (p.Lys212Arg) | |
| 10 | g.13281010T>G | CA376051266 | PHYH | c.929A>C (p.Lys310Thr) c.629A>C (p.Lys210Thr) c.878A>C (p.Lys293Thr) c.710A>C (p.Lys237Thr) c.935A>C (p.Lys312Thr) c.665A>C (p.Lys222Thr) c.635A>C (p.Lys212Thr) | |
| 10 | g.13281011T>A | CA376051267 | PHYH | c.928A>T (p.Lys310Ter) c.628A>T (p.Lys210Ter) c.877A>T (p.Lys293Ter) c.709A>T (p.Lys237Ter) c.934A>T (p.Lys312Ter) c.664A>T (p.Lys222Ter) c.634A>T (p.Lys212Ter) | |
| 10 | g.13281011T>C | CA5412203 | PHYH | c.928A>G (p.Lys310Glu) c.628A>G (p.Lys210Glu) c.877A>G (p.Lys293Glu) c.709A>G (p.Lys237Glu) c.934A>G (p.Lys312Glu) c.664A>G (p.Lys222Glu) c.634A>G (p.Lys212Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.13281011T>G | CA376051269 | PHYH | c.928A>C (p.Lys310Gln) c.628A>C (p.Lys210Gln) c.877A>C (p.Lys293Gln) c.709A>C (p.Lys237Gln) c.934A>C (p.Lys312Gln) c.664A>C (p.Lys222Gln) c.634A>C (p.Lys212Gln) | |
| 10 | g.13281011T= | CA1891545887 | PHYH | c.928A= (p.Lys310=) c.628A= (p.Lys210=) c.877A= (p.Lys293=) c.709A= (p.Lys237=) c.934A= (p.Lys312=) c.664A= (p.Lys222=) c.634A= (p.Lys212=) | |
| 10 | g.13281011_13281012delinsTA | CA1891545888 | PHYH | c.927_928delinsTA (p.His309=) c.627_628delinsTA (p.His209=) c.876_877delinsTA (p.His292=) c.708_709delinsTA (p.His236=) c.933_934delinsTA (p.His311=) c.663_664delinsTA (p.His221=) c.633_634delinsTA (p.His211=) | |
| 10 | g.13281012del | CA1891545889 | PHYH | c.927del (p.His309GlnfsTer10) c.627del (p.His209GlnfsTer10) c.876del (p.His292GlnfsTer10) c.708del (p.His236GlnfsTer10) c.933del (p.His311GlnfsTer10) c.663del (p.His221GlnfsTer10) c.633del (p.His211GlnfsTer10) | dbSNP |
| 10 | g.13281012A= | CA1891545890 | PHYH | c.927T= (p.His309=) c.627T= (p.His209=) c.876T= (p.His292=) c.708T= (p.His236=) c.933T= (p.His311=) c.663T= (p.His221=) c.633T= (p.His211=) | |
| 10 | g.13281012A>C | CA376051272 | PHYH | c.927T>G (p.His309Gln) c.627T>G (p.His209Gln) c.876T>G (p.His292Gln) c.708T>G (p.His236Gln) c.933T>G (p.His311Gln) c.663T>G (p.His221Gln) c.633T>G (p.His211Gln) | |
| 10 | g.13281012A>G | CA468246723 | PHYH | c.927T>C (p.His309=) c.627T>C (p.His209=) c.876T>C (p.His292=) c.708T>C (p.His236=) c.933T>C (p.His311=) c.663T>C (p.His221=) c.633T>C (p.His211=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.13281012A>T | CA376051274 | PHYH | c.927T>A (p.His309Gln) c.627T>A (p.His209Gln) c.876T>A (p.His292Gln) c.708T>A (p.His236Gln) c.933T>A (p.His311Gln) c.663T>A (p.His221Gln) c.633T>A (p.His211Gln) | |
| 10 | g.13281013T>A | CA376051276 | PHYH | c.926A>T (p.His309Leu) c.626A>T (p.His209Leu) c.875A>T (p.His292Leu) c.707A>T (p.His236Leu) c.932A>T (p.His311Leu) c.662A>T (p.His221Leu) c.632A>T (p.His211Leu) |