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 |
|---|---|---|---|---|---|
| 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) | |
| 10 | g.13281013T>C | CA376051280 | PHYH | c.926A>G (p.His309Arg) c.626A>G (p.His209Arg) c.875A>G (p.His292Arg) c.707A>G (p.His236Arg) c.932A>G (p.His311Arg) c.662A>G (p.His221Arg) c.632A>G (p.His211Arg) | |
| 10 | g.13281013T>G | CA376051278 | PHYH | c.926A>C (p.His309Pro) c.626A>C (p.His209Pro) c.875A>C (p.His292Pro) c.707A>C (p.His236Pro) c.932A>C (p.His311Pro) c.662A>C (p.His221Pro) c.632A>C (p.His211Pro) | |
| 10 | g.13281014G>A | CA376051282 | PHYH | c.925C>T (p.His309Tyr) c.625C>T (p.His209Tyr) c.874C>T (p.His292Tyr) c.706C>T (p.His236Tyr) c.931C>T (p.His311Tyr) c.661C>T (p.His221Tyr) c.631C>T (p.His211Tyr) | ClinVar |
| 10 | g.13281014G>C | CA376051285 | PHYH | c.925C>G (p.His309Asp) c.625C>G (p.His209Asp) c.874C>G (p.His292Asp) c.706C>G (p.His236Asp) c.931C>G (p.His311Asp) c.661C>G (p.His221Asp) c.631C>G (p.His211Asp) | |
| 10 | g.13281014G>T | CA376051283 | PHYH | c.925C>A (p.His309Asn) c.625C>A (p.His209Asn) c.874C>A (p.His292Asn) c.706C>A (p.His236Asn) c.931C>A (p.His311Asn) c.661C>A (p.His221Asn) c.631C>A (p.His211Asn) | |
| 10 | g.13281015T>A | CA468246724 | PHYH | c.924A>T (p.Ala308=) c.624A>T (p.Ala208=) c.873A>T (p.Ala291=) c.705A>T (p.Ala235=) c.930A>T (p.Ala310=) c.660A>T (p.Ala220=) c.630A>T (p.Ala210=) | |
| 10 | g.13281015T>C | CA468246725 | PHYH | c.924A>G (p.Ala308=) c.624A>G (p.Ala208=) c.873A>G (p.Ala291=) c.705A>G (p.Ala235=) c.930A>G (p.Ala310=) c.660A>G (p.Ala220=) c.630A>G (p.Ala210=) | |
| 10 | g.13281015T>G | CA468246726 | PHYH | c.924A>C (p.Ala308=) c.624A>C (p.Ala208=) c.873A>C (p.Ala291=) c.705A>C (p.Ala235=) c.930A>C (p.Ala310=) c.660A>C (p.Ala220=) c.630A>C (p.Ala210=) | dbSNP gnomAD v4 |
| 10 | g.13281015T= | CA1891545891 | PHYH | c.924A= (p.Ala308=) c.624A= (p.Ala208=) c.873A= (p.Ala291=) c.705A= (p.Ala235=) c.930A= (p.Ala310=) c.660A= (p.Ala220=) c.630A= (p.Ala210=) | |
| 10 | g.13281016G>A | CA376051287 | PHYH | c.923C>T (p.Ala308Val) c.623C>T (p.Ala208Val) c.872C>T (p.Ala291Val) c.704C>T (p.Ala235Val) c.929C>T (p.Ala310Val) c.659C>T (p.Ala220Val) c.629C>T (p.Ala210Val) | dbSNP |
| 10 | g.13281016G>C | CA376051290 | PHYH | c.923C>G (p.Ala308Gly) c.623C>G (p.Ala208Gly) c.872C>G (p.Ala291Gly) c.704C>G (p.Ala235Gly) c.929C>G (p.Ala310Gly) c.659C>G (p.Ala220Gly) c.629C>G (p.Ala210Gly) | |
| 10 | g.13281016G= | CA1891545892 | PHYH | c.923C= (p.Ala308=) c.623C= (p.Ala208=) c.872C= (p.Ala291=) c.704C= (p.Ala235=) c.929C= (p.Ala310=) c.659C= (p.Ala220=) c.629C= (p.Ala210=) | |
| 10 | g.13281016G>T | CA376051288 | PHYH | c.923C>A (p.Ala308Glu) c.623C>A (p.Ala208Glu) c.872C>A (p.Ala291Glu) c.704C>A (p.Ala235Glu) c.929C>A (p.Ala310Glu) c.659C>A (p.Ala220Glu) c.629C>A (p.Ala210Glu) | |
| 10 | g.13281017C>A | CA376051292 | PHYH | c.922G>T (p.Ala308Ser) c.622G>T (p.Ala208Ser) c.871G>T (p.Ala291Ser) c.703G>T (p.Ala235Ser) c.928G>T (p.Ala310Ser) c.658G>T (p.Ala220Ser) c.628G>T (p.Ala210Ser) | |
| 10 | g.13281017C= | CA1891545893 | PHYH | c.922G= (p.Ala308=) c.622G= (p.Ala208=) c.871G= (p.Ala291=) c.703G= (p.Ala235=) c.928G= (p.Ala310=) c.658G= (p.Ala220=) c.628G= (p.Ala210=) | |
| 10 | g.13281017C>G | CA376051296 | PHYH | c.922G>C (p.Ala308Pro) c.622G>C (p.Ala208Pro) c.871G>C (p.Ala291Pro) c.703G>C (p.Ala235Pro) c.928G>C (p.Ala310Pro) c.658G>C (p.Ala220Pro) c.628G>C (p.Ala210Pro) | |
| 10 | g.13281017C>T | CA376051294 | PHYH | c.922G>A (p.Ala308Thr) c.622G>A (p.Ala208Thr) c.871G>A (p.Ala291Thr) c.703G>A (p.Ala235Thr) c.928G>A (p.Ala310Thr) c.658G>A (p.Ala220Thr) c.628G>A (p.Ala210Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13281018del | CA2608290719 | PHYH | c.921del (p.Ile307MetfsTer12) c.621del (p.Ile207MetfsTer12) c.870del (p.Ile290MetfsTer12) c.702del (p.Ile234MetfsTer12) c.927del (p.Ile309MetfsTer12) c.657del (p.Ile219MetfsTer12) c.627del (p.Ile209MetfsTer12) | gnomAD v4 |
| 10 | g.13281018T>A | CA468246727 | PHYH | c.921A>T (p.Ile307=) c.621A>T (p.Ile207=) c.870A>T (p.Ile290=) c.702A>T (p.Ile234=) c.927A>T (p.Ile309=) c.657A>T (p.Ile219=) c.627A>T (p.Ile209=) | |
| 10 | g.13281018T>C | CA376051297 | PHYH | c.921A>G (p.Ile307Met) c.621A>G (p.Ile207Met) c.870A>G (p.Ile290Met) c.702A>G (p.Ile234Met) c.927A>G (p.Ile309Met) c.657A>G (p.Ile219Met) c.627A>G (p.Ile209Met) | |
| 10 | g.13281018T>G | CA468246728 | PHYH | c.921A>C (p.Ile307=) c.621A>C (p.Ile207=) c.870A>C (p.Ile290=) c.702A>C (p.Ile234=) c.927A>C (p.Ile309=) c.657A>C (p.Ile219=) c.627A>C (p.Ile209=) | |
| 10 | g.13281019A= | CA1891545894 | PHYH | c.920T= (p.Ile307=) c.620T= (p.Ile207=) c.869T= (p.Ile290=) c.701T= (p.Ile234=) c.926T= (p.Ile309=) c.656T= (p.Ile219=) c.626T= (p.Ile209=) | |
| 10 | g.13281019A>C | CA376051300 | PHYH | c.920T>G (p.Ile307Arg) c.620T>G (p.Ile207Arg) c.869T>G (p.Ile290Arg) c.701T>G (p.Ile234Arg) c.926T>G (p.Ile309Arg) c.656T>G (p.Ile219Arg) c.626T>G (p.Ile209Arg) | |
| 10 | g.13281019A>G | CA203334254 | PHYH | c.920T>C (p.Ile307Thr) c.620T>C (p.Ile207Thr) c.869T>C (p.Ile290Thr) c.701T>C (p.Ile234Thr) c.926T>C (p.Ile309Thr) c.656T>C (p.Ile219Thr) c.626T>C (p.Ile209Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13281019A>T | CA376051302 | PHYH | c.920T>A (p.Ile307Lys) c.620T>A (p.Ile207Lys) c.869T>A (p.Ile290Lys) c.701T>A (p.Ile234Lys) c.926T>A (p.Ile309Lys) c.656T>A (p.Ile219Lys) c.626T>A (p.Ile209Lys) | |
| 10 | g.13281020T>A | CA376051305 | PHYH | c.919A>T (p.Ile307Leu) c.619A>T (p.Ile207Leu) c.868A>T (p.Ile290Leu) c.700A>T (p.Ile234Leu) c.925A>T (p.Ile309Leu) c.655A>T (p.Ile219Leu) c.625A>T (p.Ile209Leu) | |
| 10 | g.13281020T>C | CA376051306 | PHYH | c.919A>G (p.Ile307Val) c.619A>G (p.Ile207Val) c.868A>G (p.Ile290Val) c.700A>G (p.Ile234Val) c.925A>G (p.Ile309Val) c.655A>G (p.Ile219Val) c.625A>G (p.Ile209Val) | |
| 10 | g.13281020T>G | CA376051308 | PHYH | c.919A>C (p.Ile307Leu) c.619A>C (p.Ile207Leu) c.868A>C (p.Ile290Leu) c.700A>C (p.Ile234Leu) c.925A>C (p.Ile309Leu) c.655A>C (p.Ile219Leu) c.625A>C (p.Ile209Leu) | gnomAD v4 |
| 10 | g.13281021T>A | CA468246729 | PHYH | c.918A>T (p.Gly306=) c.618A>T (p.Gly206=) c.867A>T (p.Gly289=) c.699A>T (p.Gly233=) c.924A>T (p.Gly308=) c.654A>T (p.Gly218=) c.624A>T (p.Gly208=) | |
| 10 | g.13281021T>C | CA468246730 | PHYH | c.918A>G (p.Gly306=) c.618A>G (p.Gly206=) c.867A>G (p.Gly289=) c.699A>G (p.Gly233=) c.924A>G (p.Gly308=) c.654A>G (p.Gly218=) c.624A>G (p.Gly208=) | |
| 10 | g.13281021T>G | CA468246731 | PHYH | c.918A>C (p.Gly306=) c.618A>C (p.Gly206=) c.867A>C (p.Gly289=) c.699A>C (p.Gly233=) c.924A>C (p.Gly308=) c.654A>C (p.Gly218=) c.624A>C (p.Gly208=) | gnomAD v4 |
| 10 | g.13281021_13281023delinsTCC | CA1891545895 | PHYH | c.916_918delinsGGA (p.Gly306=) c.616_618delinsGGA (p.Gly206=) c.865_867delinsGGA (p.Gly289=) c.697_699delinsGGA (p.Gly233=) c.922_924delinsGGA (p.Gly308=) c.652_654delinsGGA (p.Gly218=) c.622_624delinsGGA (p.Gly208=) | |
| 10 | g.13281022C>A | CA376051310 | PHYH | c.917G>T (p.Gly306Val) c.617G>T (p.Gly206Val) c.866G>T (p.Gly289Val) c.698G>T (p.Gly233Val) c.923G>T (p.Gly308Val) c.653G>T (p.Gly218Val) c.623G>T (p.Gly208Val) | |
| 10 | g.13281022C>G | CA376051312 | PHYH | c.917G>C (p.Gly306Ala) c.617G>C (p.Gly206Ala) c.866G>C (p.Gly289Ala) c.698G>C (p.Gly233Ala) c.923G>C (p.Gly308Ala) c.653G>C (p.Gly218Ala) c.623G>C (p.Gly208Ala) | |
| 10 | g.13281022C>T | CA376051313 | PHYH | c.917G>A (p.Gly306Glu) c.617G>A (p.Gly206Glu) c.866G>A (p.Gly289Glu) c.698G>A (p.Gly233Glu) c.923G>A (p.Gly308Glu) c.653G>A (p.Gly218Glu) c.623G>A (p.Gly208Glu) | |
| 10 | g.13281022_13281023del | CA925122129 | PHYH | c.916_917del (p.Gly306AsnfsTer4) c.616_617del (p.Gly206AsnfsTer4) c.865_866del (p.Gly289AsnfsTer4) c.697_698del (p.Gly233AsnfsTer4) c.922_923del (p.Gly308AsnfsTer4) c.652_653del (p.Gly218AsnfsTer4) c.622_623del (p.Gly208AsnfsTer4) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.13281023C>A | CA376051319 | PHYH | c.916G>T (p.Gly306Ter) c.616G>T (p.Gly206Ter) c.865G>T (p.Gly289Ter) c.697G>T (p.Gly233Ter) c.922G>T (p.Gly308Ter) c.652G>T (p.Gly218Ter) c.622G>T (p.Gly208Ter) | |
| 10 | g.13281023C= | CA1891545896 | PHYH | c.916G= (p.Gly306=) c.616G= (p.Gly206=) c.865G= (p.Gly289=) c.697G= (p.Gly233=) c.922G= (p.Gly308=) c.652G= (p.Gly218=) c.622G= (p.Gly208=) | |
| 10 | g.13281023C>G | CA5412204 | PHYH | c.916G>C (p.Gly306Arg) c.616G>C (p.Gly206Arg) c.865G>C (p.Gly289Arg) c.697G>C (p.Gly233Arg) c.922G>C (p.Gly308Arg) c.652G>C (p.Gly218Arg) c.622G>C (p.Gly208Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.13281023C>T | CA376051316 | PHYH | c.916G>A (p.Gly306Arg) c.616G>A (p.Gly206Arg) c.865G>A (p.Gly289Arg) c.697G>A (p.Gly233Arg) c.922G>A (p.Gly308Arg) c.652G>A (p.Gly218Arg) c.622G>A (p.Gly208Arg) | COSMIC |
| 10 | g.13281024T>A | CA468246732 | PHYH | c.915A>T (p.Val305=) c.615A>T (p.Val205=) c.864A>T (p.Val288=) c.696A>T (p.Val232=) c.921A>T (p.Val307=) c.651A>T (p.Val217=) c.621A>T (p.Val207=) | |
| 10 | g.13281024T>C | CA468246733 | PHYH | c.915A>G (p.Val305=) c.615A>G (p.Val205=) c.864A>G (p.Val288=) c.696A>G (p.Val232=) c.921A>G (p.Val307=) c.651A>G (p.Val217=) c.621A>G (p.Val207=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.13281024T>G | CA468246735 | PHYH | c.915A>C (p.Val305=) c.615A>C (p.Val205=) c.864A>C (p.Val288=) c.696A>C (p.Val232=) c.921A>C (p.Val307=) c.651A>C (p.Val217=) c.621A>C (p.Val207=) | |
| 10 | g.13281024T= | CA1891545897 | PHYH | c.915A= (p.Val305=) c.615A= (p.Val205=) c.864A= (p.Val288=) c.696A= (p.Val232=) c.921A= (p.Val307=) c.651A= (p.Val217=) c.621A= (p.Val207=) | |
| 10 | g.13281025A= | CA1891545898 | PHYH | c.914T= (p.Val305=) c.614T= (p.Val205=) c.863T= (p.Val288=) c.695T= (p.Val232=) c.920T= (p.Val307=) c.650T= (p.Val217=) c.620T= (p.Val207=) | |
| 10 | g.13281025A>C | CA376051320 | PHYH | c.914T>G (p.Val305Gly) c.614T>G (p.Val205Gly) c.863T>G (p.Val288Gly) c.695T>G (p.Val232Gly) c.920T>G (p.Val307Gly) c.650T>G (p.Val217Gly) c.620T>G (p.Val207Gly) | |
| 10 | g.13281025A>G | CA376051322 | PHYH | c.914T>C (p.Val305Ala) c.614T>C (p.Val205Ala) c.863T>C (p.Val288Ala) c.695T>C (p.Val232Ala) c.920T>C (p.Val307Ala) c.650T>C (p.Val217Ala) c.620T>C (p.Val207Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.13281025A>T | CA376051323 | PHYH | c.914T>A (p.Val305Glu) c.614T>A (p.Val205Glu) c.863T>A (p.Val288Glu) c.695T>A (p.Val232Glu) c.920T>A (p.Val307Glu) c.650T>A (p.Val217Glu) c.620T>A (p.Val207Glu) | |
| 10 | g.13281026C>A | CA376051325 | PHYH | c.913G>T (p.Val305Leu) c.613G>T (p.Val205Leu) c.862G>T (p.Val288Leu) c.694G>T (p.Val232Leu) c.919G>T (p.Val307Leu) c.649G>T (p.Val217Leu) c.619G>T (p.Val207Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.13281026C= | CA1891545900 | PHYH | c.913G= (p.Val305=) c.613G= (p.Val205=) c.862G= (p.Val288=) c.694G= (p.Val232=) c.919G= (p.Val307=) c.649G= (p.Val217=) c.619G= (p.Val207=) | |
| 10 | g.13281026C>G | CA376051327 | PHYH | c.913G>C (p.Val305Leu) c.613G>C (p.Val205Leu) c.862G>C (p.Val288Leu) c.694G>C (p.Val232Leu) c.919G>C (p.Val307Leu) c.649G>C (p.Val217Leu) c.619G>C (p.Val207Leu) | |
| 10 | g.13281026C>T | CA376051329 | PHYH | c.913G>A (p.Val305Ile) c.613G>A (p.Val205Ile) c.862G>A (p.Val288Ile) c.694G>A (p.Val232Ile) c.919G>A (p.Val307Ile) c.649G>A (p.Val217Ile) c.619G>A (p.Val207Ile) | ClinVar gnomAD v4 |
| 10 | g.13281026_13281027delinsCA | CA1891545899 | PHYH | c.912_913delinsTG (p.Val304=) c.612_613delinsTG (p.Val204=) c.861_862delinsTG (p.Val287=) c.693_694delinsTG (p.Val231=) c.918_919delinsTG (p.Val306=) c.648_649delinsTG (p.Val216=) c.618_619delinsTG (p.Val206=) | |
| 10 | g.13281027A>C | CA468246738 | PHYH | c.912T>G (p.Val304=) c.612T>G (p.Val204=) c.861T>G (p.Val287=) c.693T>G (p.Val231=) c.918T>G (p.Val306=) c.648T>G (p.Val216=) c.618T>G (p.Val206=) | |
| 10 | g.13281027A>G | CA468246737 | PHYH | c.912T>C (p.Val304=) c.612T>C (p.Val204=) c.861T>C (p.Val287=) c.693T>C (p.Val231=) c.918T>C (p.Val306=) c.648T>C (p.Val216=) c.618T>C (p.Val206=) | |
| 10 | g.13281027A>T | CA468246736 | PHYH | c.912T>A (p.Val304=) c.612T>A (p.Val204=) c.861T>A (p.Val287=) c.693T>A (p.Val231=) c.918T>A (p.Val306=) c.648T>A (p.Val216=) c.618T>A (p.Val206=) | |
| 10 | g.13281028del | CA5412205 | PHYH | c.912del (p.Val305Ter) c.612del (p.Val205Ter) c.861del (p.Val288Ter) c.693del (p.Val232Ter) c.918del (p.Val307Ter) c.648del (p.Val217Ter) c.618del (p.Val207Ter) | dbSNP ExAC |
| 10 | g.13281028A= | CA1891545901 | PHYH | c.911T= (p.Val304=) c.611T= (p.Val204=) c.860T= (p.Val287=) c.692T= (p.Val231=) c.917T= (p.Val306=) c.647T= (p.Val216=) c.617T= (p.Val206=) | |
| 10 | g.13281028A>C | CA376051332 | PHYH | c.911T>G (p.Val304Gly) c.611T>G (p.Val204Gly) c.860T>G (p.Val287Gly) c.692T>G (p.Val231Gly) c.917T>G (p.Val306Gly) c.647T>G (p.Val216Gly) c.617T>G (p.Val206Gly) | |
| 10 | g.13281028A>G | CA5412206 | PHYH | c.911T>C (p.Val304Ala) c.611T>C (p.Val204Ala) c.860T>C (p.Val287Ala) c.692T>C (p.Val231Ala) c.917T>C (p.Val306Ala) c.647T>C (p.Val216Ala) c.617T>C (p.Val206Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13281028A>T | CA376051334 | PHYH | c.911T>A (p.Val304Asp) c.611T>A (p.Val204Asp) c.860T>A (p.Val287Asp) c.692T>A (p.Val231Asp) c.917T>A (p.Val306Asp) c.647T>A (p.Val216Asp) c.617T>A (p.Val206Asp) | |
| 10 | g.13281029C>A | CA376051338 | PHYH | c.910G>T (p.Val304Phe) c.610G>T (p.Val204Phe) c.859G>T (p.Val287Phe) c.691G>T (p.Val231Phe) c.916G>T (p.Val306Phe) c.646G>T (p.Val216Phe) c.616G>T (p.Val206Phe) | gnomAD v4 |
| 10 | g.13281029C>G | CA376051337 | PHYH | c.910G>C (p.Val304Leu) c.610G>C (p.Val204Leu) c.859G>C (p.Val287Leu) c.691G>C (p.Val231Leu) c.916G>C (p.Val306Leu) c.646G>C (p.Val216Leu) c.616G>C (p.Val206Leu) | |
| 10 | g.13281029C>T | CA376051335 | PHYH | c.910G>A (p.Val304Ile) c.610G>A (p.Val204Ile) c.859G>A (p.Val287Ile) c.691G>A (p.Val231Ile) c.916G>A (p.Val306Ile) c.646G>A (p.Val216Ile) c.616G>A (p.Val206Ile) | |
| 10 | g.13281030T>A | CA376051340 | PHYH | c.909A>T (p.Glu303Asp) c.609A>T (p.Glu203Asp) c.858A>T (p.Glu286Asp) c.690A>T (p.Glu230Asp) c.915A>T (p.Glu305Asp) c.645A>T (p.Glu215Asp) c.615A>T (p.Glu205Asp) | |
| 10 | g.13281030T>C | CA203334273 | PHYH | c.909A>G (p.Glu303=) c.609A>G (p.Glu203=) c.858A>G (p.Glu286=) c.690A>G (p.Glu230=) c.915A>G (p.Glu305=) c.645A>G (p.Glu215=) c.615A>G (p.Glu205=) | dbSNP gnomAD v4 |
| 10 | g.13281030T>G | CA376051342 | PHYH | c.909A>C (p.Glu303Asp) c.609A>C (p.Glu203Asp) c.858A>C (p.Glu286Asp) c.690A>C (p.Glu230Asp) c.915A>C (p.Glu305Asp) c.645A>C (p.Glu215Asp) c.615A>C (p.Glu205Asp) | |
| 10 | g.13281030T= | CA1891545902 | PHYH | c.909A= (p.Glu303=) c.609A= (p.Glu203=) c.858A= (p.Glu286=) c.690A= (p.Glu230=) c.915A= (p.Glu305=) c.645A= (p.Glu215=) c.615A= (p.Glu205=) | |
| 10 | g.13281031T>A | CA376051343 | PHYH | c.908A>T (p.Glu303Val) c.608A>T (p.Glu203Val) c.857A>T (p.Glu286Val) c.689A>T (p.Glu230Val) c.914A>T (p.Glu305Val) c.644A>T (p.Glu215Val) c.614A>T (p.Glu205Val) | |
| 10 | g.13281031T>C | CA376051345 | PHYH | c.908A>G (p.Glu303Gly) c.608A>G (p.Glu203Gly) c.857A>G (p.Glu286Gly) c.689A>G (p.Glu230Gly) c.914A>G (p.Glu305Gly) c.644A>G (p.Glu215Gly) c.614A>G (p.Glu205Gly) | |
| 10 | g.13281031T>G | CA5412207 | PHYH | c.908A>C (p.Glu303Ala) c.608A>C (p.Glu203Ala) c.857A>C (p.Glu286Ala) c.689A>C (p.Glu230Ala) c.914A>C (p.Glu305Ala) c.644A>C (p.Glu215Ala) c.614A>C (p.Glu205Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13281031T= | CA1891545903 | PHYH | c.908A= (p.Glu303=) c.608A= (p.Glu203=) c.857A= (p.Glu286=) c.689A= (p.Glu230=) c.914A= (p.Glu305=) c.644A= (p.Glu215=) c.614A= (p.Glu205=) | |
| 10 | g.13281032C>A | CA376051348 | PHYH | c.907G>T (p.Glu303Ter) c.607G>T (p.Glu203Ter) c.856G>T (p.Glu286Ter) c.688G>T (p.Glu230Ter) c.913G>T (p.Glu305Ter) c.643G>T (p.Glu215Ter) c.613G>T (p.Glu205Ter) | |
| 10 | g.13281032C>G | CA376051349 | PHYH | c.907G>C (p.Glu303Gln) c.607G>C (p.Glu203Gln) c.856G>C (p.Glu286Gln) c.688G>C (p.Glu230Gln) c.913G>C (p.Glu305Gln) c.643G>C (p.Glu215Gln) c.613G>C (p.Glu205Gln) | |
| 10 | g.13281032C>T | CA376051350 | PHYH | c.907G>A (p.Glu303Lys) c.607G>A (p.Glu203Lys) c.856G>A (p.Glu286Lys) c.688G>A (p.Glu230Lys) c.913G>A (p.Glu305Lys) c.643G>A (p.Glu215Lys) c.613G>A (p.Glu205Lys) | |
| 10 | g.13281033C>A | CA376051353 | PHYH | c.906G>T (p.Lys302Asn) c.606G>T (p.Lys202Asn) c.855G>T (p.Lys285Asn) c.687G>T (p.Lys229Asn) c.912G>T (p.Lys304Asn) c.642G>T (p.Lys214Asn) c.612G>T (p.Lys204Asn) | |
| 10 | g.13281033C= | CA1891545904 | PHYH | c.906G= (p.Lys302=) c.606G= (p.Lys202=) c.855G= (p.Lys285=) c.687G= (p.Lys229=) c.912G= (p.Lys304=) c.642G= (p.Lys214=) c.612G= (p.Lys204=) | |
| 10 | g.13281033C>G | CA376051354 | PHYH | c.906G>C (p.Lys302Asn) c.606G>C (p.Lys202Asn) c.855G>C (p.Lys285Asn) c.687G>C (p.Lys229Asn) c.912G>C (p.Lys304Asn) c.642G>C (p.Lys214Asn) c.612G>C (p.Lys204Asn) | |
| 10 | g.13281033C>T | CA468246740 | PHYH | c.906G>A (p.Lys302=) c.606G>A (p.Lys202=) c.855G>A (p.Lys285=) c.687G>A (p.Lys229=) c.912G>A (p.Lys304=) c.642G>A (p.Lys214=) c.612G>A (p.Lys204=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13281034T>A | CA376051356 | PHYH | c.905A>T (p.Lys302Met) c.605A>T (p.Lys202Met) c.854A>T (p.Lys285Met) c.686A>T (p.Lys229Met) c.911A>T (p.Lys304Met) c.641A>T (p.Lys214Met) c.611A>T (p.Lys204Met) | |
| 10 | g.13281034T>C | CA376051357 | PHYH | c.905A>G (p.Lys302Arg) c.605A>G (p.Lys202Arg) c.854A>G (p.Lys285Arg) c.686A>G (p.Lys229Arg) c.911A>G (p.Lys304Arg) c.641A>G (p.Lys214Arg) c.611A>G (p.Lys204Arg) | dbSNP |
| 10 | g.13281034T>G | CA376051359 | PHYH | c.905A>C (p.Lys302Thr) c.605A>C (p.Lys202Thr) c.854A>C (p.Lys285Thr) c.686A>C (p.Lys229Thr) c.911A>C (p.Lys304Thr) c.641A>C (p.Lys214Thr) c.611A>C (p.Lys204Thr) | |
| 10 | g.13281034T= | CA1891545905 | PHYH | c.905A= (p.Lys302=) c.605A= (p.Lys202=) c.854A= (p.Lys285=) c.686A= (p.Lys229=) c.911A= (p.Lys304=) c.641A= (p.Lys214=) c.611A= (p.Lys204=) | |
| 10 | g.13281035T>A | CA376051361 | PHYH | c.904A>T (p.Lys302Ter) c.604A>T (p.Lys202Ter) c.853A>T (p.Lys285Ter) c.685A>T (p.Lys229Ter) c.910A>T (p.Lys304Ter) c.640A>T (p.Lys214Ter) c.610A>T (p.Lys204Ter) | |
| 10 | g.13281035T>C | CA376051363 | PHYH | c.904A>G (p.Lys302Glu) c.604A>G (p.Lys202Glu) c.853A>G (p.Lys285Glu) c.685A>G (p.Lys229Glu) c.910A>G (p.Lys304Glu) c.640A>G (p.Lys214Glu) c.610A>G (p.Lys204Glu) | dbSNP |
| 10 | g.13281035T>G | CA376051362 | PHYH | c.904A>C (p.Lys302Gln) c.604A>C (p.Lys202Gln) c.853A>C (p.Lys285Gln) c.685A>C (p.Lys229Gln) c.910A>C (p.Lys304Gln) c.640A>C (p.Lys214Gln) c.610A>C (p.Lys204Gln) | |
| 10 | g.13281035T= | CA1891545906 | PHYH | c.904A= (p.Lys302=) c.604A= (p.Lys202=) c.853A= (p.Lys285=) c.685A= (p.Lys229=) c.910A= (p.Lys304=) c.640A= (p.Lys214=) c.610A= (p.Lys204=) | |
| 10 | g.13281036C>A | CA203334278 | PHYH | c.903G>T (p.Glu301Asp) c.603G>T (p.Glu201Asp) c.852G>T (p.Glu284Asp) c.684G>T (p.Glu228Asp) c.909G>T (p.Glu303Asp) c.639G>T (p.Glu213Asp) c.609G>T (p.Glu203Asp) | dbSNP |
| 10 | g.13281036C= | CA1891545907 | PHYH | c.903G= (p.Glu301=) c.603G= (p.Glu201=) c.852G= (p.Glu284=) c.684G= (p.Glu228=) c.909G= (p.Glu303=) c.639G= (p.Glu213=) c.609G= (p.Glu203=) | |
| 10 | g.13281036C>G | CA376051365 | PHYH | c.903G>C (p.Glu301Asp) c.603G>C (p.Glu201Asp) c.852G>C (p.Glu284Asp) c.684G>C (p.Glu228Asp) c.909G>C (p.Glu303Asp) c.639G>C (p.Glu213Asp) c.609G>C (p.Glu203Asp) | |
| 10 | g.13281036C>T | CA468246742 | PHYH | c.903G>A (p.Glu301=) c.603G>A (p.Glu201=) c.852G>A (p.Glu284=) c.684G>A (p.Glu228=) c.909G>A (p.Glu303=) c.639G>A (p.Glu213=) c.609G>A (p.Glu203=) | gnomAD v4 |
| 10 | g.13281037T>A | CA376051367 | PHYH | c.902A>T (p.Glu301Val) c.602A>T (p.Glu201Val) c.851A>T (p.Glu284Val) c.683A>T (p.Glu228Val) c.908A>T (p.Glu303Val) c.638A>T (p.Glu213Val) c.608A>T (p.Glu203Val) | |
| 10 | g.13281037T>C | CA376051370 | PHYH | c.902A>G (p.Glu301Gly) c.602A>G (p.Glu201Gly) c.851A>G (p.Glu284Gly) c.683A>G (p.Glu228Gly) c.908A>G (p.Glu303Gly) c.638A>G (p.Glu213Gly) c.608A>G (p.Glu203Gly) | gnomAD v4 |
| 10 | g.13281037T>G | CA376051372 | PHYH | c.902A>C (p.Glu301Ala) c.602A>C (p.Glu201Ala) c.851A>C (p.Glu284Ala) c.683A>C (p.Glu228Ala) c.908A>C (p.Glu303Ala) c.638A>C (p.Glu213Ala) c.608A>C (p.Glu203Ala) | |
| 10 | g.13281038C>A | CA376051375 | PHYH | c.901G>T (p.Glu301Ter) c.601G>T (p.Glu201Ter) c.850G>T (p.Glu284Ter) c.682G>T (p.Glu228Ter) c.907G>T (p.Glu303Ter) c.637G>T (p.Glu213Ter) c.607G>T (p.Glu203Ter) | |
| 10 | g.13281038C= | CA1891545908 | PHYH | c.901G= (p.Glu301=) c.601G= (p.Glu201=) c.850G= (p.Glu284=) c.682G= (p.Glu228=) c.907G= (p.Glu303=) c.637G= (p.Glu213=) c.607G= (p.Glu203=) | |
| 10 | g.13281038C>G | CA5412208 | PHYH | c.901G>C (p.Glu301Gln) c.601G>C (p.Glu201Gln) c.850G>C (p.Glu284Gln) c.682G>C (p.Glu228Gln) c.907G>C (p.Glu303Gln) c.637G>C (p.Glu213Gln) c.607G>C (p.Glu203Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.13281038C>T | CA203334283 | PHYH | c.901G>A (p.Glu301Lys) c.601G>A (p.Glu201Lys) c.850G>A (p.Glu284Lys) c.682G>A (p.Glu228Lys) c.907G>A (p.Glu303Lys) c.637G>A (p.Glu213Lys) c.607G>A (p.Glu203Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13281039G>A | CA5412209 | PHYH | c.900C>T (p.Ile300=) c.600C>T (p.Ile200=) c.849C>T (p.Ile283=) c.681C>T (p.Ile227=) c.906C>T (p.Ile302=) c.636C>T (p.Ile212=) c.606C>T (p.Ile202=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.13281039G>C | CA376051378 | PHYH | c.900C>G (p.Ile300Met) c.600C>G (p.Ile200Met) c.849C>G (p.Ile283Met) c.681C>G (p.Ile227Met) c.906C>G (p.Ile302Met) c.636C>G (p.Ile212Met) c.606C>G (p.Ile202Met) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.13281039G= | CA1891545909 | PHYH | c.900C= (p.Ile300=) c.600C= (p.Ile200=) c.849C= (p.Ile283=) c.681C= (p.Ile227=) c.906C= (p.Ile302=) c.636C= (p.Ile212=) c.606C= (p.Ile202=) | |
| 10 | g.13281039G>T | CA468246743 | PHYH | c.900C>A (p.Ile300=) c.600C>A (p.Ile200=) c.849C>A (p.Ile283=) c.681C>A (p.Ile227=) c.906C>A (p.Ile302=) c.636C>A (p.Ile212=) c.606C>A (p.Ile202=) | gnomAD v4 COSMIC |
| 10 | g.13281040A>C | CA376051382 | PHYH | c.899T>G (p.Ile300Ser) c.599T>G (p.Ile200Ser) c.848T>G (p.Ile283Ser) c.680T>G (p.Ile227Ser) c.905T>G (p.Ile302Ser) c.635T>G (p.Ile212Ser) c.605T>G (p.Ile202Ser) | |
| 10 | g.13281040A>G | CA376051384 | PHYH | c.899T>C (p.Ile300Thr) c.599T>C (p.Ile200Thr) c.848T>C (p.Ile283Thr) c.680T>C (p.Ile227Thr) c.905T>C (p.Ile302Thr) c.635T>C (p.Ile212Thr) c.605T>C (p.Ile202Thr) | gnomAD v4 |
| 10 | g.13281040A>T | CA376051380 | PHYH | c.899T>A (p.Ile300Asn) c.599T>A (p.Ile200Asn) c.848T>A (p.Ile283Asn) c.680T>A (p.Ile227Asn) c.905T>A (p.Ile302Asn) c.635T>A (p.Ile212Asn) c.605T>A (p.Ile202Asn) | |
| 10 | g.13281041T>A | CA376051390 | PHYH | c.898A>T (p.Ile300Phe) c.598A>T (p.Ile200Phe) c.847A>T (p.Ile283Phe) c.679A>T (p.Ile227Phe) c.904A>T (p.Ile302Phe) c.634A>T (p.Ile212Phe) c.604A>T (p.Ile202Phe) | dbSNP |
| 10 | g.13281041T>C | CA376051387 | PHYH | c.898A>G (p.Ile300Val) c.598A>G (p.Ile200Val) c.847A>G (p.Ile283Val) c.679A>G (p.Ile227Val) c.904A>G (p.Ile302Val) c.634A>G (p.Ile212Val) c.604A>G (p.Ile202Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13281041T>G | CA376051388 | PHYH | c.898A>C (p.Ile300Leu) c.598A>C (p.Ile200Leu) c.847A>C (p.Ile283Leu) c.679A>C (p.Ile227Leu) c.904A>C (p.Ile302Leu) c.634A>C (p.Ile212Leu) c.604A>C (p.Ile202Leu) | ClinVar dbSNP gnomAD v4 |
| 10 | g.13281041T= | CA1891545910 | PHYH | c.898A= (p.Ile300=) c.598A= (p.Ile200=) c.847A= (p.Ile283=) c.679A= (p.Ile227=) c.904A= (p.Ile302=) c.634A= (p.Ile212=) c.604A= (p.Ile202=) | |
| 10 | g.13281042G>A | CA468246744 | PHYH | c.897C>T (p.Asn299=) c.597C>T (p.Asn199=) c.846C>T (p.Asn282=) c.678C>T (p.Asn226=) c.903C>T (p.Asn301=) c.633C>T (p.Asn211=) c.603C>T (p.Asn201=) | |
| 10 | g.13281042G>C | CA376051392 | PHYH | c.897C>G (p.Asn299Lys) c.597C>G (p.Asn199Lys) c.846C>G (p.Asn282Lys) c.678C>G (p.Asn226Lys) c.903C>G (p.Asn301Lys) c.633C>G (p.Asn211Lys) c.603C>G (p.Asn201Lys) | |
| 10 | g.13281042G= | CA1891545911 | PHYH | c.897C= (p.Asn299=) c.597C= (p.Asn199=) c.846C= (p.Asn282=) c.678C= (p.Asn226=) c.903C= (p.Asn301=) c.633C= (p.Asn211=) c.603C= (p.Asn201=) | |
| 10 | g.13281042G>T | CA376051394 | PHYH | c.897C>A (p.Asn299Lys) c.597C>A (p.Asn199Lys) c.846C>A (p.Asn282Lys) c.678C>A (p.Asn226Lys) c.903C>A (p.Asn301Lys) c.633C>A (p.Asn211Lys) c.603C>A (p.Asn201Lys) | |
| 10 | g.13281043T>A | CA376051395 | PHYH | c.896A>T (p.Asn299Ile) c.596A>T (p.Asn199Ile) c.845A>T (p.Asn282Ile) c.677A>T (p.Asn226Ile) c.902A>T (p.Asn301Ile) c.632A>T (p.Asn211Ile) c.602A>T (p.Asn201Ile) | |
| 10 | g.13281043T>C | CA376051396 | PHYH | c.896A>G (p.Asn299Ser) c.596A>G (p.Asn199Ser) c.845A>G (p.Asn282Ser) c.677A>G (p.Asn226Ser) c.902A>G (p.Asn301Ser) c.632A>G (p.Asn211Ser) c.602A>G (p.Asn201Ser) | |
| 10 | g.13281043T>G | CA376051397 | PHYH | c.896A>C (p.Asn299Thr) c.596A>C (p.Asn199Thr) c.845A>C (p.Asn282Thr) c.677A>C (p.Asn226Thr) c.902A>C (p.Asn301Thr) c.632A>C (p.Asn211Thr) c.602A>C (p.Asn201Thr) | |
| 10 | g.13281046dup | CA5412210 | PHYH | c.896dup (p.Asn299LysfsTer12) c.596dup (p.Asn199LysfsTer12) c.845dup (p.Asn282LysfsTer12) c.677dup (p.Asn226LysfsTer12) c.902dup (p.Asn301LysfsTer12) c.632dup (p.Asn211LysfsTer12) c.602dup (p.Asn201LysfsTer12) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 10 | g.13281046del | CA2695199448 | PHYH | c.896del (p.Asn299ThrfsTer7) c.596del (p.Asn199ThrfsTer7) c.845del (p.Asn282ThrfsTer7) c.677del (p.Asn226ThrfsTer7) c.902del (p.Asn301ThrfsTer7) c.632del (p.Asn211ThrfsTer7) c.602del (p.Asn201ThrfsTer7) | ClinVar |
| 10 | g.13281044T>A | CA376051399 | PHYH | c.895A>T (p.Asn299Tyr) c.595A>T (p.Asn199Tyr) c.844A>T (p.Asn282Tyr) c.676A>T (p.Asn226Tyr) c.901A>T (p.Asn301Tyr) c.631A>T (p.Asn211Tyr) c.601A>T (p.Asn201Tyr) | |
| 10 | g.13281044T>C | CA376051400 | PHYH | c.895A>G (p.Asn299Asp) c.595A>G (p.Asn199Asp) c.844A>G (p.Asn282Asp) c.676A>G (p.Asn226Asp) c.901A>G (p.Asn301Asp) c.631A>G (p.Asn211Asp) c.601A>G (p.Asn201Asp) | |
| 10 | g.13281044T>G | CA376051402 | PHYH | c.895A>C (p.Asn299His) c.595A>C (p.Asn199His) c.844A>C (p.Asn282His) c.676A>C (p.Asn226His) c.901A>C (p.Asn301His) c.631A>C (p.Asn211His) c.601A>C (p.Asn201His) | |
| 10 | g.13281045T>A | CA376051403 | PHYH | c.894A>T (p.Glu298Asp) c.594A>T (p.Glu198Asp) c.843A>T (p.Glu281Asp) c.675A>T (p.Glu225Asp) c.900A>T (p.Glu300Asp) c.630A>T (p.Glu210Asp) c.600A>T (p.Glu200Asp) | |
| 10 | g.13281045T>C | CA468246745 | PHYH | c.894A>G (p.Glu298=) c.594A>G (p.Glu198=) c.843A>G (p.Glu281=) c.675A>G (p.Glu225=) c.900A>G (p.Glu300=) c.630A>G (p.Glu210=) c.600A>G (p.Glu200=) | |
| 10 | g.13281045T>G | CA376051404 | PHYH | c.894A>C (p.Glu298Asp) c.594A>C (p.Glu198Asp) c.843A>C (p.Glu281Asp) c.675A>C (p.Glu225Asp) c.900A>C (p.Glu300Asp) c.630A>C (p.Glu210Asp) c.600A>C (p.Glu200Asp) | gnomAD v4 |
| 10 | g.13281046T>A | CA376051405 | PHYH | c.893A>T (p.Glu298Val) c.593A>T (p.Glu198Val) c.842A>T (p.Glu281Val) c.674A>T (p.Glu225Val) c.899A>T (p.Glu300Val) c.629A>T (p.Glu210Val) c.599A>T (p.Glu200Val) | |
| 10 | g.13281046T>C | CA376051407 | PHYH | c.893A>G (p.Glu298Gly) c.593A>G (p.Glu198Gly) c.842A>G (p.Glu281Gly) c.674A>G (p.Glu225Gly) c.899A>G (p.Glu300Gly) c.629A>G (p.Glu210Gly) c.599A>G (p.Glu200Gly) | |
| 10 | g.13281046T>G | CA376051406 | PHYH | c.893A>C (p.Glu298Ala) c.593A>C (p.Glu198Ala) c.842A>C (p.Glu281Ala) c.674A>C (p.Glu225Ala) c.899A>C (p.Glu300Ala) c.629A>C (p.Glu210Ala) c.599A>C (p.Glu200Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.13281046T= | CA1891545912 | PHYH | c.893A= (p.Glu298=) c.593A= (p.Glu198=) c.842A= (p.Glu281=) c.674A= (p.Glu225=) c.899A= (p.Glu300=) c.629A= (p.Glu210=) c.599A= (p.Glu200=) | |
| 10 | g.13281047C>A | CA376051409 | PHYH | c.892G>T (p.Glu298Ter) c.592G>T (p.Glu198Ter) c.841G>T (p.Glu281Ter) c.673G>T (p.Glu225Ter) c.898G>T (p.Glu300Ter) c.628G>T (p.Glu210Ter) c.598G>T (p.Glu200Ter) | |
| 10 | g.13281047C>G | CA376051411 | PHYH | c.892G>C (p.Glu298Gln) c.592G>C (p.Glu198Gln) c.841G>C (p.Glu281Gln) c.673G>C (p.Glu225Gln) c.898G>C (p.Glu300Gln) c.628G>C (p.Glu210Gln) c.598G>C (p.Glu200Gln) | |
| 10 | g.13281047C>T | CA376051413 | PHYH | c.892G>A (p.Glu298Lys) c.592G>A (p.Glu198Lys) c.841G>A (p.Glu281Lys) c.673G>A (p.Glu225Lys) c.898G>A (p.Glu300Lys) c.628G>A (p.Glu210Lys) c.598G>A (p.Glu200Lys) | |
| 10 | g.13281048T>A | CA376051415 | PHYH | c.891A>T (p.Gln297His) c.591A>T (p.Gln197His) c.840A>T (p.Gln280His) c.672A>T (p.Gln224His) c.897A>T (p.Gln299His) c.627A>T (p.Gln209His) c.597A>T (p.Gln199His) | |
| 10 | g.13281048T>C | CA468246746 | PHYH | c.891A>G (p.Gln297=) c.591A>G (p.Gln197=) c.840A>G (p.Gln280=) c.672A>G (p.Gln224=) c.897A>G (p.Gln299=) c.627A>G (p.Gln209=) c.597A>G (p.Gln199=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.13281048T>G | CA376051417 | PHYH | c.891A>C (p.Gln297His) c.591A>C (p.Gln197His) c.840A>C (p.Gln280His) c.672A>C (p.Gln224His) c.897A>C (p.Gln299His) c.627A>C (p.Gln209His) c.597A>C (p.Gln199His) | |
| 10 | g.13281048T= | CA1891545913 | PHYH | c.891A= (p.Gln297=) c.591A= (p.Gln197=) c.840A= (p.Gln280=) c.672A= (p.Gln224=) c.897A= (p.Gln299=) c.627A= (p.Gln209=) c.597A= (p.Gln199=) | |
| 10 | g.13281049T>A | CA376051419 | PHYH | c.890A>T (p.Gln297Leu) c.590A>T (p.Gln197Leu) c.839A>T (p.Gln280Leu) c.671A>T (p.Gln224Leu) c.896A>T (p.Gln299Leu) c.626A>T (p.Gln209Leu) c.596A>T (p.Gln199Leu) | |
| 10 | g.13281049T>C | CA376051421 | PHYH | c.890A>G (p.Gln297Arg) c.590A>G (p.Gln197Arg) c.839A>G (p.Gln280Arg) c.671A>G (p.Gln224Arg) c.896A>G (p.Gln299Arg) c.626A>G (p.Gln209Arg) c.596A>G (p.Gln199Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13281049T>G | CA376051423 | PHYH | c.890A>C (p.Gln297Pro) c.590A>C (p.Gln197Pro) c.839A>C (p.Gln280Pro) c.671A>C (p.Gln224Pro) c.896A>C (p.Gln299Pro) c.626A>C (p.Gln209Pro) c.596A>C (p.Gln199Pro) | |
| 10 | g.13281049T= | CA1891545914 | PHYH | c.890A= (p.Gln297=) c.590A= (p.Gln197=) c.839A= (p.Gln280=) c.671A= (p.Gln224=) c.896A= (p.Gln299=) c.626A= (p.Gln209=) c.596A= (p.Gln199=) | |
| 10 | g.13281050G>A | CA376051425 | PHYH | c.889C>T (p.Gln297Ter) c.589C>T (p.Gln197Ter) c.838C>T (p.Gln280Ter) c.670C>T (p.Gln224Ter) c.895C>T (p.Gln299Ter) c.625C>T (p.Gln209Ter) c.595C>T (p.Gln199Ter) | |
| 10 | g.13281050G>C | CA376051427 | PHYH | c.889C>G (p.Gln297Glu) c.589C>G (p.Gln197Glu) c.838C>G (p.Gln280Glu) c.670C>G (p.Gln224Glu) c.895C>G (p.Gln299Glu) c.625C>G (p.Gln209Glu) c.595C>G (p.Gln199Glu) | |
| 10 | g.13281050G>T | CA376051429 | PHYH | c.889C>A (p.Gln297Lys) c.589C>A (p.Gln197Lys) c.838C>A (p.Gln280Lys) c.670C>A (p.Gln224Lys) c.895C>A (p.Gln299Lys) c.625C>A (p.Gln209Lys) c.595C>A (p.Gln199Lys) | gnomAD v4 |
| 10 | g.13281051A>C | CA376051432 | PHYH | c.888T>G (p.Ser296Arg) c.588T>G (p.Ser196Arg) c.837T>G (p.Ser279Arg) c.669T>G (p.Ser223Arg) c.894T>G (p.Ser298Arg) c.624T>G (p.Ser208Arg) c.594T>G (p.Ser198Arg) | |
| 10 | g.13281051A>G | CA468246747 | PHYH | c.888T>C (p.Ser296=) c.588T>C (p.Ser196=) c.837T>C (p.Ser279=) c.669T>C (p.Ser223=) c.894T>C (p.Ser298=) c.624T>C (p.Ser208=) c.594T>C (p.Ser198=) | |
| 10 | g.13281051A>T | CA376051431 | PHYH | c.888T>A (p.Ser296Arg) c.588T>A (p.Ser196Arg) c.837T>A (p.Ser279Arg) c.669T>A (p.Ser223Arg) c.894T>A (p.Ser298Arg) c.624T>A (p.Ser208Arg) c.594T>A (p.Ser198Arg) | |
| 10 | g.13281052C>A | CA376051435 | PHYH | c.887G>T (p.Ser296Ile) c.587G>T (p.Ser196Ile) c.836G>T (p.Ser279Ile) c.668G>T (p.Ser223Ile) c.893G>T (p.Ser298Ile) c.623G>T (p.Ser208Ile) c.593G>T (p.Ser198Ile) | gnomAD v4 |
| 10 | g.13281052C>G | CA376051436 | PHYH | c.887G>C (p.Ser296Thr) c.587G>C (p.Ser196Thr) c.836G>C (p.Ser279Thr) c.668G>C (p.Ser223Thr) c.893G>C (p.Ser298Thr) c.623G>C (p.Ser208Thr) c.593G>C (p.Ser198Thr) | |
| 10 | g.13281052C>T | CA376051438 | PHYH | c.887G>A (p.Ser296Asn) c.587G>A (p.Ser196Asn) c.836G>A (p.Ser279Asn) c.668G>A (p.Ser223Asn) c.893G>A (p.Ser298Asn) c.623G>A (p.Ser208Asn) c.593G>A (p.Ser198Asn) | gnomAD v4 |
| 10 | g.13281053T>A | CA376051441 | PHYH | c.886A>T (p.Ser296Cys) c.586A>T (p.Ser196Cys) c.835A>T (p.Ser279Cys) c.667A>T (p.Ser223Cys) c.892A>T (p.Ser298Cys) c.622A>T (p.Ser208Cys) c.592A>T (p.Ser198Cys) | |
| 10 | g.13281053T>C | CA376051442 | PHYH | c.886A>G (p.Ser296Gly) c.586A>G (p.Ser196Gly) c.835A>G (p.Ser279Gly) c.667A>G (p.Ser223Gly) c.892A>G (p.Ser298Gly) c.622A>G (p.Ser208Gly) c.592A>G (p.Ser198Gly) | |
| 10 | g.13281053T>G | CA376051443 | PHYH | c.886A>C (p.Ser296Arg) c.586A>C (p.Ser196Arg) c.835A>C (p.Ser279Arg) c.667A>C (p.Ser223Arg) c.892A>C (p.Ser298Arg) c.622A>C (p.Ser208Arg) c.592A>C (p.Ser198Arg) | |
| 10 | g.13281054G>A | CA468246748 | PHYH | c.885C>T (p.Thr295=) c.585C>T (p.Thr195=) c.834C>T (p.Thr278=) c.666C>T (p.Thr222=) c.891C>T (p.Thr297=) c.621C>T (p.Thr207=) c.591C>T (p.Thr197=) | |
| 10 | g.13281054G>C | CA468246749 | PHYH | c.885C>G (p.Thr295=) c.585C>G (p.Thr195=) c.834C>G (p.Thr278=) c.666C>G (p.Thr222=) c.891C>G (p.Thr297=) c.621C>G (p.Thr207=) c.591C>G (p.Thr197=) | |
| 10 | g.13281054G= | CA1891545915 | PHYH | c.885C= (p.Thr295=) c.585C= (p.Thr195=) c.834C= (p.Thr278=) c.666C= (p.Thr222=) c.891C= (p.Thr297=) c.621C= (p.Thr207=) c.591C= (p.Thr197=) | |
| 10 | g.13281054G>T | CA468246750 | PHYH | c.885C>A (p.Thr295=) c.585C>A (p.Thr195=) c.834C>A (p.Thr278=) c.666C>A (p.Thr222=) c.891C>A (p.Thr297=) c.621C>A (p.Thr207=) c.591C>A (p.Thr197=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13281055G>A | CA376051444 | PHYH | c.884C>T (p.Thr295Ile) c.584C>T (p.Thr195Ile) c.833C>T (p.Thr278Ile) c.665C>T (p.Thr222Ile) c.890C>T (p.Thr297Ile) c.620C>T (p.Thr207Ile) c.590C>T (p.Thr197Ile) | |
| 10 | g.13281055G>C | CA376051446 | PHYH | c.884C>G (p.Thr295Ser) c.584C>G (p.Thr195Ser) c.833C>G (p.Thr278Ser) c.665C>G (p.Thr222Ser) c.890C>G (p.Thr297Ser) c.620C>G (p.Thr207Ser) c.590C>G (p.Thr197Ser) | |
| 10 | g.13281055G>T | CA376051448 | PHYH | c.884C>A (p.Thr295Asn) c.584C>A (p.Thr195Asn) c.833C>A (p.Thr278Asn) c.665C>A (p.Thr222Asn) c.890C>A (p.Thr297Asn) c.620C>A (p.Thr207Asn) c.590C>A (p.Thr197Asn) | |
| 10 | g.13281056T>A | CA376051450 | PHYH | c.883A>T (p.Thr295Ser) c.583A>T (p.Thr195Ser) c.832A>T (p.Thr278Ser) c.664A>T (p.Thr222Ser) c.889A>T (p.Thr297Ser) c.619A>T (p.Thr207Ser) c.589A>T (p.Thr197Ser) | |
| 10 | g.13281056T>C | CA376051452 | PHYH | c.883A>G (p.Thr295Ala) c.583A>G (p.Thr195Ala) c.832A>G (p.Thr278Ala) c.664A>G (p.Thr222Ala) c.889A>G (p.Thr297Ala) c.619A>G (p.Thr207Ala) c.589A>G (p.Thr197Ala) | |
| 10 | g.13281056T>G | CA376051454 | PHYH | c.883A>C (p.Thr295Pro) c.583A>C (p.Thr195Pro) c.832A>C (p.Thr278Pro) c.664A>C (p.Thr222Pro) c.889A>C (p.Thr297Pro) c.619A>C (p.Thr207Pro) c.589A>C (p.Thr197Pro) | |
| 10 | g.13281057G>A | CA468246751 | PHYH | c.882C>T (p.Gly294=) c.582C>T (p.Gly194=) c.831C>T (p.Gly277=) c.663C>T (p.Gly221=) c.888C>T (p.Gly296=) c.618C>T (p.Gly206=) c.588C>T (p.Gly196=) | ClinVar |
| 10 | g.13281057G>C | CA468246752 | PHYH | c.882C>G (p.Gly294=) c.582C>G (p.Gly194=) c.831C>G (p.Gly277=) c.663C>G (p.Gly221=) c.888C>G (p.Gly296=) c.618C>G (p.Gly206=) c.588C>G (p.Gly196=) | |
| 10 | g.13281057G>T | CA468246753 | PHYH | c.882C>A (p.Gly294=) c.582C>A (p.Gly194=) c.831C>A (p.Gly277=) c.663C>A (p.Gly221=) c.888C>A (p.Gly296=) c.618C>A (p.Gly206=) c.588C>A (p.Gly196=) | |
| 10 | g.13281058C>A | CA376051458 | PHYH | c.881G>T (p.Gly294Val) c.581G>T (p.Gly194Val) c.830G>T (p.Gly277Val) c.662G>T (p.Gly221Val) c.887G>T (p.Gly296Val) c.617G>T (p.Gly206Val) c.587G>T (p.Gly196Val) | gnomAD v4 |
| 10 | g.13281058C= | CA1891545916 | PHYH | c.881G= (p.Gly294=) c.581G= (p.Gly194=) c.830G= (p.Gly277=) c.662G= (p.Gly221=) c.887G= (p.Gly296=) c.617G= (p.Gly206=) c.587G= (p.Gly196=) | |
| 10 | g.13281058C>G | CA376051460 | PHYH | c.881G>C (p.Gly294Ala) c.581G>C (p.Gly194Ala) c.830G>C (p.Gly277Ala) c.662G>C (p.Gly221Ala) c.887G>C (p.Gly296Ala) c.617G>C (p.Gly206Ala) c.587G>C (p.Gly196Ala) | |
| 10 | g.13281058C>T | CA376051456 | PHYH | c.881G>A (p.Gly294Asp) c.581G>A (p.Gly194Asp) c.830G>A (p.Gly277Asp) c.662G>A (p.Gly221Asp) c.887G>A (p.Gly296Asp) c.617G>A (p.Gly206Asp) c.587G>A (p.Gly196Asp) | dbSNP |
| 10 | g.13281059C>A | CA5412211 | PHYH | c.880G>T (p.Gly294Cys) c.580G>T (p.Gly194Cys) c.829G>T (p.Gly277Cys) c.661G>T (p.Gly221Cys) c.886G>T (p.Gly296Cys) c.616G>T (p.Gly206Cys) c.586G>T (p.Gly196Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.13281059C= | CA1891545917 | PHYH | c.880G= (p.Gly294=) c.580G= (p.Gly194=) c.829G= (p.Gly277=) c.661G= (p.Gly221=) c.886G= (p.Gly296=) c.616G= (p.Gly206=) c.586G= (p.Gly196=) | |
| 10 | g.13281059C>G | CA376051463 | PHYH | c.880G>C (p.Gly294Arg) c.580G>C (p.Gly194Arg) c.829G>C (p.Gly277Arg) c.661G>C (p.Gly221Arg) c.886G>C (p.Gly296Arg) c.616G>C (p.Gly206Arg) c.586G>C (p.Gly196Arg) | |
| 10 | g.13281059C>T | CA376051465 | PHYH | c.880G>A (p.Gly294Ser) c.580G>A (p.Gly194Ser) c.829G>A (p.Gly277Ser) c.661G>A (p.Gly221Ser) c.886G>A (p.Gly296Ser) c.616G>A (p.Gly206Ser) c.586G>A (p.Gly196Ser) | |
| 10 | g.13281060C>A | CA376051466 | PHYH | c.879G>T (p.Lys293Asn) c.579G>T (p.Lys193Asn) c.828G>T (p.Lys276Asn) c.660G>T (p.Lys220Asn) c.885G>T (p.Lys295Asn) c.615G>T (p.Lys205Asn) c.585G>T (p.Lys195Asn) | |
| 10 | g.13281060C>G | CA376051467 | PHYH | c.879G>C (p.Lys293Asn) c.579G>C (p.Lys193Asn) c.828G>C (p.Lys276Asn) c.660G>C (p.Lys220Asn) c.885G>C (p.Lys295Asn) c.615G>C (p.Lys205Asn) c.585G>C (p.Lys195Asn) | |
| 10 | g.13281060C>T | CA468246754 | PHYH | c.879G>A (p.Lys293=) c.579G>A (p.Lys193=) c.828G>A (p.Lys276=) c.660G>A (p.Lys220=) c.885G>A (p.Lys295=) c.615G>A (p.Lys205=) c.585G>A (p.Lys195=) | |
| 10 | g.13281061T>A | CA376051473 | PHYH | c.878A>T (p.Lys293Met) c.578A>T (p.Lys193Met) c.827A>T (p.Lys276Met) c.659A>T (p.Lys220Met) c.884A>T (p.Lys295Met) c.614A>T (p.Lys205Met) c.584A>T (p.Lys195Met) | |
| 10 | g.13281061T>C | CA376051470 | PHYH | c.878A>G (p.Lys293Arg) c.578A>G (p.Lys193Arg) c.827A>G (p.Lys276Arg) c.659A>G (p.Lys220Arg) c.884A>G (p.Lys295Arg) c.614A>G (p.Lys205Arg) c.584A>G (p.Lys195Arg) | |
| 10 | g.13281061T>G | CA376051472 | PHYH | c.878A>C (p.Lys293Thr) c.578A>C (p.Lys193Thr) c.827A>C (p.Lys276Thr) c.659A>C (p.Lys220Thr) c.884A>C (p.Lys295Thr) c.614A>C (p.Lys205Thr) c.584A>C (p.Lys195Thr) | |
| 10 | g.13281062T>A | CA376051475 | PHYH | c.877A>T (p.Lys293Ter) c.577A>T (p.Lys193Ter) c.826A>T (p.Lys276Ter) c.658A>T (p.Lys220Ter) c.883A>T (p.Lys295Ter) c.613A>T (p.Lys205Ter) c.583A>T (p.Lys195Ter) | |
| 10 | g.13281062T>C | CA376051476 | PHYH | c.877A>G (p.Lys293Glu) c.577A>G (p.Lys193Glu) c.826A>G (p.Lys276Glu) c.658A>G (p.Lys220Glu) c.883A>G (p.Lys295Glu) c.613A>G (p.Lys205Glu) c.583A>G (p.Lys195Glu) | |
| 10 | g.13281062T>G | CA376051478 | PHYH | c.877A>C (p.Lys293Gln) c.577A>C (p.Lys193Gln) c.826A>C (p.Lys276Gln) c.658A>C (p.Lys220Gln) c.883A>C (p.Lys295Gln) c.613A>C (p.Lys205Gln) c.583A>C (p.Lys195Gln) | |
| 10 | g.13281063C>A | CA468246755 | PHYH | c.876G>T (p.Val292=) c.576G>T (p.Val192=) c.825G>T (p.Val275=) c.657G>T (p.Val219=) c.882G>T (p.Val294=) c.612G>T (p.Val204=) c.582G>T (p.Val194=) | |
| 10 | g.13281063C= | CA1891545918 | PHYH | c.876G= (p.Val292=) c.576G= (p.Val192=) c.825G= (p.Val275=) c.657G= (p.Val219=) c.882G= (p.Val294=) c.612G= (p.Val204=) c.582G= (p.Val194=) | |
| 10 | g.13281063C>G | CA468246756 | PHYH | c.876G>C (p.Val292=) c.576G>C (p.Val192=) c.825G>C (p.Val275=) c.657G>C (p.Val219=) c.882G>C (p.Val294=) c.612G>C (p.Val204=) c.582G>C (p.Val194=) | |
| 10 | g.13281063C>T | CA468246757 | PHYH | c.876G>A (p.Val292=) c.576G>A (p.Val192=) c.825G>A (p.Val275=) c.657G>A (p.Val219=) c.882G>A (p.Val294=) c.612G>A (p.Val204=) c.582G>A (p.Val194=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.13281064A= | CA1891545919 | PHYH | c.875T= (p.Val292=) c.575T= (p.Val192=) c.824T= (p.Val275=) c.656T= (p.Val219=) c.881T= (p.Val294=) c.611T= (p.Val204=) c.581T= (p.Val194=) | |
| 10 | g.13281064A>C | CA376051479 | PHYH | c.875T>G (p.Val292Gly) c.575T>G (p.Val192Gly) c.824T>G (p.Val275Gly) c.656T>G (p.Val219Gly) c.881T>G (p.Val294Gly) c.611T>G (p.Val204Gly) c.581T>G (p.Val194Gly) | |
| 10 | g.13281064A>G | CA376051480 | PHYH | c.875T>C (p.Val292Ala) c.575T>C (p.Val192Ala) c.824T>C (p.Val275Ala) c.656T>C (p.Val219Ala) c.881T>C (p.Val294Ala) c.611T>C (p.Val204Ala) c.581T>C (p.Val194Ala) | COSMIC |
| 10 | g.13281064A>T | CA376051482 | PHYH | c.875T>A (p.Val292Glu) c.575T>A (p.Val192Glu) c.824T>A (p.Val275Glu) c.656T>A (p.Val219Glu) c.881T>A (p.Val294Glu) c.611T>A (p.Val204Glu) c.581T>A (p.Val194Glu) | dbSNP |
| 10 | g.13281065C>A | CA376051485 | PHYH | c.874G>T (p.Val292Leu) c.574G>T (p.Val192Leu) c.823G>T (p.Val275Leu) c.655G>T (p.Val219Leu) c.880G>T (p.Val294Leu) c.610G>T (p.Val204Leu) c.580G>T (p.Val194Leu) | |
| 10 | g.13281065C= | CA1891545920 | PHYH | c.874G= (p.Val292=) c.574G= (p.Val192=) c.823G= (p.Val275=) c.655G= (p.Val219=) c.880G= (p.Val294=) c.610G= (p.Val204=) c.580G= (p.Val194=) | |
| 10 | g.13281065C>G | CA376051486 | PHYH | c.874G>C (p.Val292Leu) c.574G>C (p.Val192Leu) c.823G>C (p.Val275Leu) c.655G>C (p.Val219Leu) c.880G>C (p.Val294Leu) c.610G>C (p.Val204Leu) c.580G>C (p.Val194Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13281065C>T | CA376051484 | PHYH | c.874G>A (p.Val292Met) c.574G>A (p.Val192Met) c.823G>A (p.Val275Met) c.655G>A (p.Val219Met) c.880G>A (p.Val294Met) c.610G>A (p.Val204Met) c.580G>A (p.Val194Met) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.13281066G>A | CA5412212 | PHYH | c.873C>T (p.Asp291=) c.573C>T (p.Asp191=) c.822C>T (p.Asp274=) c.654C>T (p.Asp218=) c.879C>T (p.Asp293=) c.609C>T (p.Asp203=) c.579C>T (p.Asp193=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13281066G>C | CA376051488 | PHYH | c.873C>G (p.Asp291Glu) c.573C>G (p.Asp191Glu) c.822C>G (p.Asp274Glu) c.654C>G (p.Asp218Glu) c.879C>G (p.Asp293Glu) c.609C>G (p.Asp203Glu) c.579C>G (p.Asp193Glu) | |
| 10 | g.13281066G= | CA1891545921 | PHYH | c.873C= (p.Asp291=) c.573C= (p.Asp191=) c.822C= (p.Asp274=) c.654C= (p.Asp218=) c.879C= (p.Asp293=) c.609C= (p.Asp203=) c.579C= (p.Asp193=) | |
| 10 | g.13281066G>T | CA376051491 | PHYH | c.873C>A (p.Asp291Glu) c.573C>A (p.Asp191Glu) c.822C>A (p.Asp274Glu) c.654C>A (p.Asp218Glu) c.879C>A (p.Asp293Glu) c.609C>A (p.Asp203Glu) c.579C>A (p.Asp193Glu) | |
| 10 | g.13281067T>A | CA376051493 | PHYH | c.872A>T (p.Asp291Val) c.572A>T (p.Asp191Val) c.821A>T (p.Asp274Val) c.653A>T (p.Asp218Val) c.878A>T (p.Asp293Val) c.608A>T (p.Asp203Val) c.578A>T (p.Asp193Val) | |
| 10 | g.13281067T>C | CA376051494 | PHYH | c.872A>G (p.Asp291Gly) c.572A>G (p.Asp191Gly) c.821A>G (p.Asp274Gly) c.653A>G (p.Asp218Gly) c.878A>G (p.Asp293Gly) c.608A>G (p.Asp203Gly) c.578A>G (p.Asp193Gly) | |
| 10 | g.13281067T>G | CA376051495 | PHYH | c.872A>C (p.Asp291Ala) c.572A>C (p.Asp191Ala) c.821A>C (p.Asp274Ala) c.653A>C (p.Asp218Ala) c.878A>C (p.Asp293Ala) c.608A>C (p.Asp203Ala) c.578A>C (p.Asp193Ala) | ClinVar dbSNP |
| 10 | g.13281067T= | CA1891545922 | PHYH | c.872A= (p.Asp291=) c.572A= (p.Asp191=) c.821A= (p.Asp274=) c.653A= (p.Asp218=) c.878A= (p.Asp293=) c.608A= (p.Asp203=) c.578A= (p.Asp193=) | |
| 10 | g.13281068C>A | CA376051499 | PHYH | c.871G>T (p.Asp291Tyr) c.571G>T (p.Asp191Tyr) c.820G>T (p.Asp274Tyr) c.652G>T (p.Asp218Tyr) c.877G>T (p.Asp293Tyr) c.607G>T (p.Asp203Tyr) c.577G>T (p.Asp193Tyr) | |
| 10 | g.13281068C= | CA1891545923 | PHYH | c.871G= (p.Asp291=) c.571G= (p.Asp191=) c.820G= (p.Asp274=) c.652G= (p.Asp218=) c.877G= (p.Asp293=) c.607G= (p.Asp203=) c.577G= (p.Asp193=) | |
| 10 | g.13281068C>G | CA376051500 | PHYH | c.871G>C (p.Asp291His) c.571G>C (p.Asp191His) c.820G>C (p.Asp274His) c.652G>C (p.Asp218His) c.877G>C (p.Asp293His) c.607G>C (p.Asp203His) c.577G>C (p.Asp193His) | |
| 10 | g.13281068C>T | CA376051502 | PHYH | c.871G>A (p.Asp291Asn) c.571G>A (p.Asp191Asn) c.820G>A (p.Asp274Asn) c.652G>A (p.Asp218Asn) c.877G>A (p.Asp293Asn) c.607G>A (p.Asp203Asn) c.577G>A (p.Asp193Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13281069A>C | CA376051504 | PHYH | c.870T>G (p.Ile290Met) c.570T>G (p.Ile190Met) c.819T>G (p.Ile273Met) c.651T>G (p.Ile217Met) c.876T>G (p.Ile292Met) c.606T>G (p.Ile202Met) c.576T>G (p.Ile192Met) | |
| 10 | g.13281069A>G | CA468246759 | PHYH | c.870T>C (p.Ile290=) c.570T>C (p.Ile190=) c.819T>C (p.Ile273=) c.651T>C (p.Ile217=) c.876T>C (p.Ile292=) c.606T>C (p.Ile202=) c.576T>C (p.Ile192=) | |
| 10 | g.13281069A>T | CA468246758 | PHYH | c.870T>A (p.Ile290=) c.570T>A (p.Ile190=) c.819T>A (p.Ile273=) c.651T>A (p.Ile217=) c.876T>A (p.Ile292=) c.606T>A (p.Ile202=) c.576T>A (p.Ile192=) | |
| 10 | g.13281070A= | CA1891545924 | PHYH | c.869T= (p.Ile290=) c.569T= (p.Ile190=) c.818T= (p.Ile273=) c.650T= (p.Ile217=) c.875T= (p.Ile292=) c.605T= (p.Ile202=) c.575T= (p.Ile192=) | |
| 10 | g.13281070A>C | CA376051506 | PHYH | c.869T>G (p.Ile290Ser) c.569T>G (p.Ile190Ser) c.818T>G (p.Ile273Ser) c.650T>G (p.Ile217Ser) c.875T>G (p.Ile292Ser) c.605T>G (p.Ile202Ser) c.575T>G (p.Ile192Ser) | |
| 10 | g.13281070A>G | CA5412213 | PHYH | c.869T>C (p.Ile290Thr) c.569T>C (p.Ile190Thr) c.818T>C (p.Ile273Thr) c.650T>C (p.Ile217Thr) c.875T>C (p.Ile292Thr) c.605T>C (p.Ile202Thr) c.575T>C (p.Ile192Thr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 10 | g.13281070A>T | CA376051508 | PHYH | c.869T>A (p.Ile290Asn) c.569T>A (p.Ile190Asn) c.818T>A (p.Ile273Asn) c.650T>A (p.Ile217Asn) c.875T>A (p.Ile292Asn) c.605T>A (p.Ile202Asn) c.575T>A (p.Ile192Asn) | |
| 10 | g.13281071T>A | CA376051510 | PHYH | c.868A>T (p.Ile290Phe) c.568A>T (p.Ile190Phe) c.817A>T (p.Ile273Phe) c.649A>T (p.Ile217Phe) c.874A>T (p.Ile292Phe) c.604A>T (p.Ile202Phe) c.574A>T (p.Ile192Phe) | |
| 10 | g.13281071T>C | CA376051512 | PHYH | c.868A>G (p.Ile290Val) c.568A>G (p.Ile190Val) c.817A>G (p.Ile273Val) c.649A>G (p.Ile217Val) c.874A>G (p.Ile292Val) c.604A>G (p.Ile202Val) c.574A>G (p.Ile192Val) | gnomAD v4 |
| 10 | g.13281071T>G | CA376051514 | PHYH | c.868A>C (p.Ile290Leu) c.568A>C (p.Ile190Leu) c.817A>C (p.Ile273Leu) c.649A>C (p.Ile217Leu) c.874A>C (p.Ile292Leu) c.604A>C (p.Ile202Leu) c.574A>C (p.Ile192Leu) | |
| 10 | g.13281072G>A | CA468246760 | PHYH | c.867C>T (p.Tyr289=) c.567C>T (p.Tyr189=) c.816C>T (p.Tyr272=) c.648C>T (p.Tyr216=) c.873C>T (p.Tyr291=) c.603C>T (p.Tyr201=) c.573C>T (p.Tyr191=) | |
| 10 | g.13281072G>C | CA376051516 | PHYH | c.867C>G (p.Tyr289Ter) c.567C>G (p.Tyr189Ter) c.816C>G (p.Tyr272Ter) c.648C>G (p.Tyr216Ter) c.873C>G (p.Tyr291Ter) c.603C>G (p.Tyr201Ter) c.573C>G (p.Tyr191Ter) | |
| 10 | g.13281072G>T | CA376051518 | PHYH | c.867C>A (p.Tyr289Ter) c.567C>A (p.Tyr189Ter) c.816C>A (p.Tyr272Ter) c.648C>A (p.Tyr216Ter) c.873C>A (p.Tyr291Ter) c.603C>A (p.Tyr201Ter) c.573C>A (p.Tyr191Ter) | |
| 10 | g.13281073T>A | CA376051520 | PHYH | c.866A>T (p.Tyr289Phe) c.566A>T (p.Tyr189Phe) c.815A>T (p.Tyr272Phe) c.647A>T (p.Tyr216Phe) c.872A>T (p.Tyr291Phe) c.602A>T (p.Tyr201Phe) c.572A>T (p.Tyr191Phe) | |
| 10 | g.13281073T>C | CA376051521 | PHYH | c.866A>G (p.Tyr289Cys) c.566A>G (p.Tyr189Cys) c.815A>G (p.Tyr272Cys) c.647A>G (p.Tyr216Cys) c.872A>G (p.Tyr291Cys) c.602A>G (p.Tyr201Cys) c.572A>G (p.Tyr191Cys) | |
| 10 | g.13281073T>G | CA376051522 | PHYH | c.866A>C (p.Tyr289Ser) c.566A>C (p.Tyr189Ser) c.815A>C (p.Tyr272Ser) c.647A>C (p.Tyr216Ser) c.872A>C (p.Tyr291Ser) c.602A>C (p.Tyr201Ser) c.572A>C (p.Tyr191Ser) | |
| 10 | g.13281074A>C | CA376051524 | PHYH | c.865T>G (p.Tyr289Asp) c.565T>G (p.Tyr189Asp) c.814T>G (p.Tyr272Asp) c.646T>G (p.Tyr216Asp) c.871T>G (p.Tyr291Asp) c.601T>G (p.Tyr201Asp) c.571T>G (p.Tyr191Asp) | |
| 10 | g.13281074A>G | CA376051525 | PHYH | c.865T>C (p.Tyr289His) c.565T>C (p.Tyr189His) c.814T>C (p.Tyr272His) c.646T>C (p.Tyr216His) c.871T>C (p.Tyr291His) c.601T>C (p.Tyr201His) c.571T>C (p.Tyr191His) | dbSNP |
| 10 | g.13281074A>T | CA376051526 | PHYH | c.865T>A (p.Tyr289Asn) c.565T>A (p.Tyr189Asn) c.814T>A (p.Tyr272Asn) c.646T>A (p.Tyr216Asn) c.871T>A (p.Tyr291Asn) c.601T>A (p.Tyr201Asn) c.571T>A (p.Tyr191Asn) | |
| 10 | g.13281075G>A | CA203334301 | PHYH | c.864C>T (p.His288=) c.564C>T (p.His188=) c.813C>T (p.His271=) c.645C>T (p.His215=) c.870C>T (p.His290=) c.600C>T (p.His200=) c.570C>T (p.His190=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13281075G>C | CA5412214 | PHYH | c.864C>G (p.His288Gln) c.564C>G (p.His188Gln) c.813C>G (p.His271Gln) c.645C>G (p.His215Gln) c.870C>G (p.His290Gln) c.600C>G (p.His200Gln) c.570C>G (p.His190Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13281075G= | CA1891545925 | PHYH | c.864C= (p.His288=) c.564C= (p.His188=) c.813C= (p.His271=) c.645C= (p.His215=) c.870C= (p.His290=) c.600C= (p.His200=) c.570C= (p.His190=) | |
| 10 | g.13281075G>T | CA376051528 | PHYH | c.864C>A (p.His288Gln) c.564C>A (p.His188Gln) c.813C>A (p.His271Gln) c.645C>A (p.His215Gln) c.870C>A (p.His290Gln) c.600C>A (p.His200Gln) c.570C>A (p.His190Gln) | |
| 10 | g.13281076T>A | CA376051531 | PHYH | c.863A>T (p.His288Leu) c.563A>T (p.His188Leu) c.812A>T (p.His271Leu) c.644A>T (p.His215Leu) c.869A>T (p.His290Leu) c.599A>T (p.His200Leu) c.569A>T (p.His190Leu) | |
| 10 | g.13281076T>C | CA376051533 | PHYH | c.863A>G (p.His288Arg) c.563A>G (p.His188Arg) c.812A>G (p.His271Arg) c.644A>G (p.His215Arg) c.869A>G (p.His290Arg) c.599A>G (p.His200Arg) c.569A>G (p.His190Arg) | COSMIC |
| 10 | g.13281076T>G | CA376051535 | PHYH | c.863A>C (p.His288Pro) c.563A>C (p.His188Pro) c.812A>C (p.His271Pro) c.644A>C (p.His215Pro) c.869A>C (p.His290Pro) c.599A>C (p.His200Pro) c.569A>C (p.His190Pro) | ClinVar |
| 10 | g.13281077G>A | CA376051539 | PHYH | c.862C>T (p.His288Tyr) c.562C>T (p.His188Tyr) c.811C>T (p.His271Tyr) c.643C>T (p.His215Tyr) c.868C>T (p.His290Tyr) c.598C>T (p.His200Tyr) c.568C>T (p.His190Tyr) | |
| 10 | g.13281077G>C | CA376051540 | PHYH | c.862C>G (p.His288Asp) c.562C>G (p.His188Asp) c.811C>G (p.His271Asp) c.643C>G (p.His215Asp) c.868C>G (p.His290Asp) c.598C>G (p.His200Asp) c.568C>G (p.His190Asp) | |
| 10 | g.13281077G>T | CA376051537 | PHYH | c.862C>A (p.His288Asn) c.562C>A (p.His188Asn) c.811C>A (p.His271Asn) c.643C>A (p.His215Asn) c.868C>A (p.His290Asn) c.598C>A (p.His200Asn) c.568C>A (p.His190Asn) | |
| 10 | g.13281078G>A | CA5412215 | PHYH | c.861C>T (p.Cys287=) c.561C>T (p.Cys187=) c.810C>T (p.Cys270=) c.642C>T (p.Cys214=) c.867C>T (p.Cys289=) c.597C>T (p.Cys199=) c.567C>T (p.Cys189=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.13281078G>C | CA376051543 | PHYH | c.861C>G (p.Cys287Trp) c.561C>G (p.Cys187Trp) c.810C>G (p.Cys270Trp) c.642C>G (p.Cys214Trp) c.867C>G (p.Cys289Trp) c.597C>G (p.Cys199Trp) c.567C>G (p.Cys189Trp) | |
| 10 | g.13281078G= | CA1891545926 | PHYH | c.861C= (p.Cys287=) c.561C= (p.Cys187=) c.810C= (p.Cys270=) c.642C= (p.Cys214=) c.867C= (p.Cys289=) c.597C= (p.Cys199=) c.567C= (p.Cys189=) | |
| 10 | g.13281078G>T | CA376051544 | PHYH | c.861C>A (p.Cys287Ter) c.561C>A (p.Cys187Ter) c.810C>A (p.Cys270Ter) c.642C>A (p.Cys214Ter) c.867C>A (p.Cys289Ter) c.597C>A (p.Cys199Ter) c.567C>A (p.Cys189Ter) | |
| 10 | g.13281079C>A | CA376051546 | PHYH | c.860G>T (p.Cys287Phe) c.560G>T (p.Cys187Phe) c.809G>T (p.Cys270Phe) c.641G>T (p.Cys214Phe) c.866G>T (p.Cys289Phe) c.596G>T (p.Cys199Phe) c.566G>T (p.Cys189Phe) | |
| 10 | g.13281079C>G | CA376051548 | PHYH | c.860G>C (p.Cys287Ser) c.560G>C (p.Cys187Ser) c.809G>C (p.Cys270Ser) c.641G>C (p.Cys214Ser) c.866G>C (p.Cys289Ser) c.596G>C (p.Cys199Ser) c.566G>C (p.Cys189Ser) | |
| 10 | g.13281079C>T | CA376051550 | PHYH | c.860G>A (p.Cys287Tyr) c.560G>A (p.Cys187Tyr) c.809G>A (p.Cys270Tyr) c.641G>A (p.Cys214Tyr) c.866G>A (p.Cys289Tyr) c.596G>A (p.Cys199Tyr) c.566G>A (p.Cys189Tyr) | gnomAD v4 |
| 10 | g.13281080A>C | CA376051556 | PHYH | c.859T>G (p.Cys287Gly) c.559T>G (p.Cys187Gly) c.808T>G (p.Cys270Gly) c.640T>G (p.Cys214Gly) c.865T>G (p.Cys289Gly) c.595T>G (p.Cys199Gly) c.565T>G (p.Cys189Gly) | |
| 10 | g.13281080A>G | CA376051552 | PHYH | c.859T>C (p.Cys287Arg) c.559T>C (p.Cys187Arg) c.808T>C (p.Cys270Arg) c.640T>C (p.Cys214Arg) c.865T>C (p.Cys289Arg) c.595T>C (p.Cys199Arg) c.565T>C (p.Cys189Arg) | |
| 10 | g.13281080A>T | CA376051554 | PHYH | c.859T>A (p.Cys287Ser) c.559T>A (p.Cys187Ser) c.808T>A (p.Cys270Ser) c.640T>A (p.Cys214Ser) c.865T>A (p.Cys289Ser) c.595T>A (p.Cys199Ser) c.565T>A (p.Cys189Ser) | |
| 10 | g.13281081A>C | CA376051557 | PHYH | c.858T>G (p.Asp286Glu) c.558T>G (p.Asp186Glu) c.807T>G (p.Asp269Glu) c.639T>G (p.Asp213Glu) c.864T>G (p.Asp288Glu) c.594T>G (p.Asp198Glu) c.564T>G (p.Asp188Glu) | |
| 10 | g.13281081A>G | CA468246761 | PHYH | c.858T>C (p.Asp286=) c.558T>C (p.Asp186=) c.807T>C (p.Asp269=) c.639T>C (p.Asp213=) c.864T>C (p.Asp288=) c.594T>C (p.Asp198=) c.564T>C (p.Asp188=) | |
| 10 | g.13281081A>T | CA376051558 | PHYH | c.858T>A (p.Asp286Glu) c.558T>A (p.Asp186Glu) c.807T>A (p.Asp269Glu) c.639T>A (p.Asp213Glu) c.864T>A (p.Asp288Glu) c.594T>A (p.Asp198Glu) c.564T>A (p.Asp188Glu) | |
| 10 | g.13281082T>A | CA376051560 | PHYH | c.857A>T (p.Asp286Val) c.557A>T (p.Asp186Val) c.806A>T (p.Asp269Val) c.638A>T (p.Asp213Val) c.863A>T (p.Asp288Val) c.593A>T (p.Asp198Val) c.563A>T (p.Asp188Val) | |
| 10 | g.13281082T>C | CA376051562 | PHYH | c.857A>G (p.Asp286Gly) c.557A>G (p.Asp186Gly) c.806A>G (p.Asp269Gly) c.638A>G (p.Asp213Gly) c.863A>G (p.Asp288Gly) c.593A>G (p.Asp198Gly) c.563A>G (p.Asp188Gly) | gnomAD v4 |
| 10 | g.13281082T>G | CA376051564 | PHYH | c.857A>C (p.Asp286Ala) c.557A>C (p.Asp186Ala) c.806A>C (p.Asp269Ala) c.638A>C (p.Asp213Ala) c.863A>C (p.Asp288Ala) c.593A>C (p.Asp198Ala) c.563A>C (p.Asp188Ala) | |
| 10 | g.13281083C>A | CA5412217 | PHYH | c.856G>T (p.Asp286Tyr) c.556G>T (p.Asp186Tyr) c.805G>T (p.Asp269Tyr) c.637G>T (p.Asp213Tyr) c.862G>T (p.Asp288Tyr) c.592G>T (p.Asp198Tyr) c.562G>T (p.Asp188Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.13281083C= | CA1891545927 | PHYH | c.856G= (p.Asp286=) c.556G= (p.Asp186=) c.805G= (p.Asp269=) c.637G= (p.Asp213=) c.862G= (p.Asp288=) c.592G= (p.Asp198=) c.562G= (p.Asp188=) | |
| 10 | g.13281083C>G | CA376051568 | PHYH | c.856G>C (p.Asp286His) c.556G>C (p.Asp186His) c.805G>C (p.Asp269His) c.637G>C (p.Asp213His) c.862G>C (p.Asp288His) c.592G>C (p.Asp198His) c.562G>C (p.Asp188His) | dbSNP |
| 10 | g.13281083C>T | CA5412216 | PHYH | c.856G>A (p.Asp286Asn) c.556G>A (p.Asp186Asn) c.805G>A (p.Asp269Asn) c.637G>A (p.Asp213Asn) c.862G>A (p.Asp288Asn) c.592G>A (p.Asp198Asn) c.562G>A (p.Asp188Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.13281084G>A | CA5412218 | PHYH | c.855C>T (p.Ala285=) c.555C>T (p.Ala185=) c.804C>T (p.Ala268=) c.636C>T (p.Ala212=) c.861C>T (p.Ala287=) c.591C>T (p.Ala197=) c.561C>T (p.Ala187=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.13281084G>C | CA468246762 | PHYH | c.855C>G (p.Ala285=) c.555C>G (p.Ala185=) c.804C>G (p.Ala268=) c.636C>G (p.Ala212=) c.861C>G (p.Ala287=) c.591C>G (p.Ala197=) c.561C>G (p.Ala187=) | |
| 10 | g.13281084G= | CA1891545928 | PHYH | c.855C= (p.Ala285=) c.555C= (p.Ala185=) c.804C= (p.Ala268=) c.636C= (p.Ala212=) c.861C= (p.Ala287=) c.591C= (p.Ala197=) c.561C= (p.Ala187=) | |
| 10 | g.13281084G>T | CA468246763 | PHYH | c.855C>A (p.Ala285=) c.555C>A (p.Ala185=) c.804C>A (p.Ala268=) c.636C>A (p.Ala212=) c.861C>A (p.Ala287=) c.591C>A (p.Ala197=) c.561C>A (p.Ala187=) | |
| 10 | g.13281085G>A | CA376051571 | PHYH | c.854C>T (p.Ala285Val) c.554C>T (p.Ala185Val) c.803C>T (p.Ala268Val) c.635C>T (p.Ala212Val) c.860C>T (p.Ala287Val) c.590C>T (p.Ala197Val) c.560C>T (p.Ala187Val) | gnomAD v4 |
| 10 | g.13281085G>C | CA376051573 | PHYH | c.854C>G (p.Ala285Gly) c.554C>G (p.Ala185Gly) c.803C>G (p.Ala268Gly) c.635C>G (p.Ala212Gly) c.860C>G (p.Ala287Gly) c.590C>G (p.Ala197Gly) c.560C>G (p.Ala187Gly) | |
| 10 | g.13281085G>T | CA376051574 | PHYH | c.854C>A (p.Ala285Asp) c.554C>A (p.Ala185Asp) c.803C>A (p.Ala268Asp) c.635C>A (p.Ala212Asp) c.860C>A (p.Ala287Asp) c.590C>A (p.Ala197Asp) c.560C>A (p.Ala187Asp) | |
| 10 | g.13281086C>A | CA376051577 | PHYH | c.853G>T (p.Ala285Ser) c.553G>T (p.Ala185Ser) c.802G>T (p.Ala268Ser) c.634G>T (p.Ala212Ser) c.859G>T (p.Ala287Ser) c.589G>T (p.Ala197Ser) c.559G>T (p.Ala187Ser) | |
| 10 | g.13281086C>G | CA376051579 | PHYH | c.853G>C (p.Ala285Pro) c.553G>C (p.Ala185Pro) c.802G>C (p.Ala268Pro) c.634G>C (p.Ala212Pro) c.859G>C (p.Ala287Pro) c.589G>C (p.Ala197Pro) c.559G>C (p.Ala187Pro) | |
| 10 | g.13281086C>T | CA376051580 | PHYH | c.853G>A (p.Ala285Thr) c.553G>A (p.Ala185Thr) c.802G>A (p.Ala268Thr) c.634G>A (p.Ala212Thr) c.859G>A (p.Ala287Thr) c.589G>A (p.Ala197Thr) c.559G>A (p.Ala187Thr) | |
| 10 | g.13281087A= | CA1891545929 | PHYH | c.852T= (p.Ser284=) c.552T= (p.Ser184=) c.801T= (p.Ser267=) c.633T= (p.Ser211=) c.858T= (p.Ser286=) c.588T= (p.Ser196=) c.558T= (p.Ser186=) | |
| 10 | g.13281087A>C | CA376051583 | PHYH | c.852T>G (p.Ser284Arg) c.552T>G (p.Ser184Arg) c.801T>G (p.Ser267Arg) c.633T>G (p.Ser211Arg) c.858T>G (p.Ser286Arg) c.588T>G (p.Ser196Arg) c.558T>G (p.Ser186Arg) | dbSNP |
| 10 | g.13281087A>G | CA468246764 | PHYH | c.852T>C (p.Ser284=) c.552T>C (p.Ser184=) c.801T>C (p.Ser267=) c.633T>C (p.Ser211=) c.858T>C (p.Ser286=) c.588T>C (p.Ser196=) c.558T>C (p.Ser186=) | |
| 10 | g.13281087A>T | CA376051584 | PHYH | c.852T>A (p.Ser284Arg) c.552T>A (p.Ser184Arg) c.801T>A (p.Ser267Arg) c.633T>A (p.Ser211Arg) c.858T>A (p.Ser286Arg) c.588T>A (p.Ser196Arg) c.558T>A (p.Ser186Arg) | |
| 10 | g.13281088C>A | CA376051587 | PHYH | c.851G>T (p.Ser284Ile) c.551G>T (p.Ser184Ile) c.800G>T (p.Ser267Ile) c.632G>T (p.Ser211Ile) c.857G>T (p.Ser286Ile) c.587G>T (p.Ser196Ile) c.557G>T (p.Ser186Ile) | |
| 10 | g.13281088C>G | CA376051589 | PHYH | c.851G>C (p.Ser284Thr) c.551G>C (p.Ser184Thr) c.800G>C (p.Ser267Thr) c.632G>C (p.Ser211Thr) c.857G>C (p.Ser286Thr) c.587G>C (p.Ser196Thr) c.557G>C (p.Ser186Thr) | |
| 10 | g.13281088C>T | CA376051590 | PHYH | c.851G>A (p.Ser284Asn) c.551G>A (p.Ser184Asn) c.800G>A (p.Ser267Asn) c.632G>A (p.Ser211Asn) c.857G>A (p.Ser286Asn) c.587G>A (p.Ser196Asn) c.557G>A (p.Ser186Asn) | |
| 10 | g.13281089T>A | CA376051596 | PHYH | c.850A>T (p.Ser284Cys) c.550A>T (p.Ser184Cys) c.799A>T (p.Ser267Cys) c.631A>T (p.Ser211Cys) c.856A>T (p.Ser286Cys) c.586A>T (p.Ser196Cys) c.556A>T (p.Ser186Cys) | |
| 10 | g.13281089T>C | CA376051594 | PHYH | c.850A>G (p.Ser284Gly) c.550A>G (p.Ser184Gly) c.799A>G (p.Ser267Gly) c.631A>G (p.Ser211Gly) c.856A>G (p.Ser286Gly) c.586A>G (p.Ser196Gly) c.556A>G (p.Ser186Gly) | |
| 10 | g.13281089T>G | CA376051593 | PHYH | c.850A>C (p.Ser284Arg) c.550A>C (p.Ser184Arg) c.799A>C (p.Ser267Arg) c.631A>C (p.Ser211Arg) c.856A>C (p.Ser286Arg) c.586A>C (p.Ser196Arg) c.556A>C (p.Ser186Arg) | |
| 10 | g.13281090G>A | CA203334314 | PHYH | c.849C>T (p.Ala283=) c.549C>T (p.Ala183=) c.798C>T (p.Ala266=) c.630C>T (p.Ala210=) c.855C>T (p.Ala285=) c.585C>T (p.Ala195=) c.555C>T (p.Ala185=) | dbSNP |
| 10 | g.13281090G>C | CA468246765 | PHYH | c.849C>G (p.Ala283=) c.549C>G (p.Ala183=) c.798C>G (p.Ala266=) c.630C>G (p.Ala210=) c.855C>G (p.Ala285=) c.585C>G (p.Ala195=) c.555C>G (p.Ala185=) | |
| 10 | g.13281090G= | CA1891545930 | PHYH | c.849C= (p.Ala283=) c.549C= (p.Ala183=) c.798C= (p.Ala266=) c.630C= (p.Ala210=) c.855C= (p.Ala285=) c.585C= (p.Ala195=) c.555C= (p.Ala185=) | |
| 10 | g.13281090G>T | CA468246766 | PHYH | c.849C>A (p.Ala283=) c.549C>A (p.Ala183=) c.798C>A (p.Ala266=) c.630C>A (p.Ala210=) c.855C>A (p.Ala285=) c.585C>A (p.Ala195=) c.555C>A (p.Ala185=) | |
| 10 | g.13281091G>A | CA376051603 | PHYH | c.848C>T (p.Ala283Val) c.548C>T (p.Ala183Val) c.797C>T (p.Ala266Val) c.629C>T (p.Ala210Val) c.854C>T (p.Ala285Val) c.584C>T (p.Ala195Val) c.554C>T (p.Ala185Val) | |
| 10 | g.13281091G>C | CA376051599 | PHYH | c.848C>G (p.Ala283Gly) c.548C>G (p.Ala183Gly) c.797C>G (p.Ala266Gly) c.629C>G (p.Ala210Gly) c.854C>G (p.Ala285Gly) c.584C>G (p.Ala195Gly) c.554C>G (p.Ala185Gly) | |
| 10 | g.13281091G>T | CA376051601 | PHYH | c.848C>A (p.Ala283Asp) c.548C>A (p.Ala183Asp) c.797C>A (p.Ala266Asp) c.629C>A (p.Ala210Asp) c.854C>A (p.Ala285Asp) c.584C>A (p.Ala195Asp) c.554C>A (p.Ala185Asp) | |
| 10 | g.13281092C>A | CA376051605 | PHYH | c.847G>T (p.Ala283Ser) c.547G>T (p.Ala183Ser) c.796G>T (p.Ala266Ser) c.628G>T (p.Ala210Ser) c.853G>T (p.Ala285Ser) c.583G>T (p.Ala195Ser) c.553G>T (p.Ala185Ser) | |
| 10 | g.13281092C= | CA1891545931 | PHYH | c.847G= (p.Ala283=) c.547G= (p.Ala183=) c.796G= (p.Ala266=) c.628G= (p.Ala210=) c.853G= (p.Ala285=) c.583G= (p.Ala195=) c.553G= (p.Ala185=) | |
| 10 | g.13281092C>G | CA376051606 | PHYH | c.847G>C (p.Ala283Pro) c.547G>C (p.Ala183Pro) c.796G>C (p.Ala266Pro) c.628G>C (p.Ala210Pro) c.853G>C (p.Ala285Pro) c.583G>C (p.Ala195Pro) c.553G>C (p.Ala185Pro) | |
| 10 | g.13281092C>T | CA5412219 | PHYH | c.847G>A (p.Ala283Thr) c.547G>A (p.Ala183Thr) c.796G>A (p.Ala266Thr) c.628G>A (p.Ala210Thr) c.853G>A (p.Ala285Thr) c.583G>A (p.Ala195Thr) c.553G>A (p.Ala185Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13281093G>A | CA5412220 | PHYH | c.846C>T (p.Phe282=) c.546C>T (p.Phe182=) c.795C>T (p.Phe265=) c.627C>T (p.Phe209=) c.852C>T (p.Phe284=) c.582C>T (p.Phe194=) c.552C>T (p.Phe184=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13281093G>C | CA376051611 | PHYH | c.846C>G (p.Phe282Leu) c.546C>G (p.Phe182Leu) c.795C>G (p.Phe265Leu) c.627C>G (p.Phe209Leu) c.852C>G (p.Phe284Leu) c.582C>G (p.Phe194Leu) c.552C>G (p.Phe184Leu) | |
| 10 | g.13281093G= | CA1891545932 | PHYH | c.846C= (p.Phe282=) c.546C= (p.Phe182=) c.795C= (p.Phe265=) c.627C= (p.Phe209=) c.852C= (p.Phe284=) c.582C= (p.Phe194=) c.552C= (p.Phe184=) | |
| 10 | g.13281093G>T | CA5412221 | PHYH | c.846C>A (p.Phe282Leu) c.546C>A (p.Phe182Leu) c.795C>A (p.Phe265Leu) c.627C>A (p.Phe209Leu) c.852C>A (p.Phe284Leu) c.582C>A (p.Phe194Leu) c.552C>A (p.Phe184Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13281094A>C | CA376051614 | PHYH | c.845T>G (p.Phe282Cys) c.545T>G (p.Phe182Cys) c.794T>G (p.Phe265Cys) c.626T>G (p.Phe209Cys) c.851T>G (p.Phe284Cys) c.581T>G (p.Phe194Cys) c.551T>G (p.Phe184Cys) | |
| 10 | g.13281094A>G | CA376051615 | PHYH | c.845T>C (p.Phe282Ser) c.545T>C (p.Phe182Ser) c.794T>C (p.Phe265Ser) c.626T>C (p.Phe209Ser) c.851T>C (p.Phe284Ser) c.581T>C (p.Phe194Ser) c.551T>C (p.Phe184Ser) | |
| 10 | g.13281094A>T | CA376051617 | PHYH | c.845T>A (p.Phe282Tyr) c.545T>A (p.Phe182Tyr) c.794T>A (p.Phe265Tyr) c.626T>A (p.Phe209Tyr) c.851T>A (p.Phe284Tyr) c.581T>A (p.Phe194Tyr) c.551T>A (p.Phe184Tyr) | |
| 10 | g.13281096del | CA2721017997 | PHYH | c.845del (p.Phe282SerfsTer11) c.545del (p.Phe182SerfsTer11) c.794del (p.Phe265SerfsTer11) c.626del (p.Phe209SerfsTer11) c.851del (p.Phe284SerfsTer11) c.581del (p.Phe194SerfsTer11) c.551del (p.Phe184SerfsTer11) | dbSNP |
| 10 | g.13281095A>C | CA376051619 | PHYH | c.844T>G (p.Phe282Val) c.544T>G (p.Phe182Val) c.793T>G (p.Phe265Val) c.625T>G (p.Phe209Val) c.850T>G (p.Phe284Val) c.580T>G (p.Phe194Val) c.550T>G (p.Phe184Val) | |
| 10 | g.13281095A>G | CA376051621 | PHYH | c.844T>C (p.Phe282Leu) c.544T>C (p.Phe182Leu) c.793T>C (p.Phe265Leu) c.625T>C (p.Phe209Leu) c.850T>C (p.Phe284Leu) c.580T>C (p.Phe194Leu) c.550T>C (p.Phe184Leu) | |
| 10 | g.13281095A>T | CA376051622 | PHYH | c.844T>A (p.Phe282Ile) c.544T>A (p.Phe182Ile) c.793T>A (p.Phe265Ile) c.625T>A (p.Phe209Ile) c.850T>A (p.Phe284Ile) c.580T>A (p.Phe194Ile) c.550T>A (p.Phe184Ile) | |
| 10 | g.13281096A>C | CA376051624 | PHYH | c.843T>G (p.His281Gln) c.543T>G (p.His181Gln) c.792T>G (p.His264Gln) c.624T>G (p.His208Gln) c.849T>G (p.His283Gln) c.579T>G (p.His193Gln) c.549T>G (p.His183Gln) | |
| 10 | g.13281096A>G | CA468246767 | PHYH | c.843T>C (p.His281=) c.543T>C (p.His181=) c.792T>C (p.His264=) c.624T>C (p.His208=) c.849T>C (p.His283=) c.579T>C (p.His193=) c.549T>C (p.His183=) | gnomAD v4 |
| 10 | g.13281096A>T | CA376051626 | PHYH | c.843T>A (p.His281Gln) c.543T>A (p.His181Gln) c.792T>A (p.His264Gln) c.624T>A (p.His208Gln) c.849T>A (p.His283Gln) c.579T>A (p.His193Gln) c.549T>A (p.His183Gln) | |
| 10 | g.13281097T>A | CA376051628 | PHYH | c.842A>T (p.His281Leu) c.542A>T (p.His181Leu) c.791A>T (p.His264Leu) c.623A>T (p.His208Leu) c.848A>T (p.His283Leu) c.578A>T (p.His193Leu) c.548A>T (p.His183Leu) | |
| 10 | g.13281097T>C | CA376051630 | PHYH | c.842A>G (p.His281Arg) c.542A>G (p.His181Arg) c.791A>G (p.His264Arg) c.623A>G (p.His208Arg) c.848A>G (p.His283Arg) c.578A>G (p.His193Arg) c.548A>G (p.His183Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.13281097T>G | CA376051632 | PHYH | c.842A>C (p.His281Pro) c.542A>C (p.His181Pro) c.791A>C (p.His264Pro) c.623A>C (p.His208Pro) c.848A>C (p.His283Pro) c.578A>C (p.His193Pro) c.548A>C (p.His183Pro) | |
| 10 | g.13281097T= | CA1891545933 | PHYH | c.842A= (p.His281=) c.542A= (p.His181=) c.791A= (p.His264=) c.623A= (p.His208=) c.848A= (p.His283=) c.578A= (p.His193=) c.548A= (p.His183=) | |
| 10 | g.13281098G>A | CA376051633 | PHYH | c.841C>T (p.His281Tyr) c.541C>T (p.His181Tyr) c.790C>T (p.His264Tyr) c.622C>T (p.His208Tyr) c.847C>T (p.His283Tyr) c.577C>T (p.His193Tyr) c.547C>T (p.His183Tyr) | dbSNP |
| 10 | g.13281098G>C | CA376051635 | PHYH | c.841C>G (p.His281Asp) c.541C>G (p.His181Asp) c.790C>G (p.His264Asp) c.622C>G (p.His208Asp) c.847C>G (p.His283Asp) c.577C>G (p.His193Asp) c.547C>G (p.His183Asp) | |
| 10 | g.13281098G= | CA1891545934 | PHYH | c.841C= (p.His281=) c.541C= (p.His181=) c.790C= (p.His264=) c.622C= (p.His208=) c.847C= (p.His283=) c.577C= (p.His193=) c.547C= (p.His183=) | |
| 10 | g.13281098G>T | CA376051637 | PHYH | c.841C>A (p.His281Asn) c.541C>A (p.His181Asn) c.790C>A (p.His264Asn) c.622C>A (p.His208Asn) c.847C>A (p.His283Asn) c.577C>A (p.His193Asn) c.547C>A (p.His183Asn) | |
| 10 | g.13281099G>A | CA468246768 | PHYH | c.840C>T (p.Cys280=) c.540C>T (p.Cys180=) c.789C>T (p.Cys263=) c.621C>T (p.Cys207=) c.846C>T (p.Cys282=) c.576C>T (p.Cys192=) c.546C>T (p.Cys182=) | gnomAD v4 |
| 10 | g.13281099G>C | CA376051639 | PHYH | c.840C>G (p.Cys280Trp) c.540C>G (p.Cys180Trp) c.789C>G (p.Cys263Trp) c.621C>G (p.Cys207Trp) c.846C>G (p.Cys282Trp) c.576C>G (p.Cys192Trp) c.546C>G (p.Cys182Trp) | |
| 10 | g.13281099G= | CA1891545935 | PHYH | c.840C= (p.Cys280=) c.540C= (p.Cys180=) c.789C= (p.Cys263=) c.621C= (p.Cys207=) c.846C= (p.Cys282=) c.576C= (p.Cys192=) c.546C= (p.Cys182=) | |
| 10 | g.13281099G>T | CA16605832 | PHYH | c.840C>A (p.Cys280Ter) c.540C>A (p.Cys180Ter) c.789C>A (p.Cys263Ter) c.621C>A (p.Cys207Ter) c.846C>A (p.Cys282Ter) c.576C>A (p.Cys192Ter) c.546C>A (p.Cys182Ter) | ClinVar dbSNP |
| 10 | g.13281100C>A | CA376051642 | PHYH | c.839G>T (p.Cys280Phe) c.539G>T (p.Cys180Phe) c.788G>T (p.Cys263Phe) c.620G>T (p.Cys207Phe) c.845G>T (p.Cys282Phe) c.575G>T (p.Cys192Phe) c.545G>T (p.Cys182Phe) | |
| 10 | g.13281100C= | CA1891545936 | PHYH | c.839G= (p.Cys280=) c.539G= (p.Cys180=) c.788G= (p.Cys263=) c.620G= (p.Cys207=) c.845G= (p.Cys282=) c.575G= (p.Cys192=) c.545G= (p.Cys182=) | |
| 10 | g.13281100C>G | CA376051644 | PHYH | c.839G>C (p.Cys280Ser) c.539G>C (p.Cys180Ser) c.788G>C (p.Cys263Ser) c.620G>C (p.Cys207Ser) c.845G>C (p.Cys282Ser) c.575G>C (p.Cys192Ser) c.545G>C (p.Cys182Ser) | |
| 10 | g.13281100C>T | CA376051646 | PHYH | c.839G>A (p.Cys280Tyr) c.539G>A (p.Cys180Tyr) c.788G>A (p.Cys263Tyr) c.620G>A (p.Cys207Tyr) c.845G>A (p.Cys282Tyr) c.575G>A (p.Cys192Tyr) c.545G>A (p.Cys182Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13281101A>C | CA376051653 | PHYH | c.838T>G (p.Cys280Gly) c.538T>G (p.Cys180Gly) c.787T>G (p.Cys263Gly) c.619T>G (p.Cys207Gly) c.844T>G (p.Cys282Gly) c.574T>G (p.Cys192Gly) c.544T>G (p.Cys182Gly) | |
| 10 | g.13281101A>G | CA376051651 | PHYH | c.838T>C (p.Cys280Arg) c.538T>C (p.Cys180Arg) c.787T>C (p.Cys263Arg) c.619T>C (p.Cys207Arg) c.844T>C (p.Cys282Arg) c.574T>C (p.Cys192Arg) c.544T>C (p.Cys182Arg) | |
| 10 | g.13281101A>T | CA376051649 | PHYH | c.838T>A (p.Cys280Ser) c.538T>A (p.Cys180Ser) c.787T>A (p.Cys263Ser) c.619T>A (p.Cys207Ser) c.844T>A (p.Cys282Ser) c.574T>A (p.Cys192Ser) c.544T>A (p.Cys182Ser) | |
| 10 | g.13281102G>A | CA468246769 | PHYH | c.837C>T (p.Ser279=) c.537C>T (p.Ser179=) c.786C>T (p.Ser262=) c.618C>T (p.Ser206=) c.843C>T (p.Ser281=) c.573C>T (p.Ser191=) c.543C>T (p.Ser181=) | gnomAD v4 |
| 10 | g.13281102G>C | CA468246771 | PHYH | c.837C>G (p.Ser279=) c.537C>G (p.Ser179=) c.786C>G (p.Ser262=) c.618C>G (p.Ser206=) c.843C>G (p.Ser281=) c.573C>G (p.Ser191=) c.543C>G (p.Ser181=) | |
| 10 | g.13281102G>T | CA468246770 | PHYH | c.837C>A (p.Ser279=) c.537C>A (p.Ser179=) c.786C>A (p.Ser262=) c.618C>A (p.Ser206=) c.843C>A (p.Ser281=) c.573C>A (p.Ser191=) c.543C>A (p.Ser181=) | |
| 10 | g.13281103G>A | CA203334324 | PHYH | c.836C>T (p.Ser279Phe) c.536C>T (p.Ser179Phe) c.785C>T (p.Ser262Phe) c.617C>T (p.Ser206Phe) c.842C>T (p.Ser281Phe) c.572C>T (p.Ser191Phe) c.542C>T (p.Ser181Phe) | dbSNP COSMIC |
| 10 | g.13281103G>C | CA376051655 | PHYH | c.836C>G (p.Ser279Cys) c.536C>G (p.Ser179Cys) c.785C>G (p.Ser262Cys) c.617C>G (p.Ser206Cys) c.842C>G (p.Ser281Cys) c.572C>G (p.Ser191Cys) c.542C>G (p.Ser181Cys) | |
| 10 | g.13281103G= | CA1891545937 | PHYH | c.836C= (p.Ser279=) c.536C= (p.Ser179=) c.785C= (p.Ser262=) c.617C= (p.Ser206=) c.842C= (p.Ser281=) c.572C= (p.Ser191=) c.542C= (p.Ser181=) | |
| 10 | g.13281103G>T | CA376051657 | PHYH | c.836C>A (p.Ser279Tyr) c.536C>A (p.Ser179Tyr) c.785C>A (p.Ser262Tyr) c.617C>A (p.Ser206Tyr) c.842C>A (p.Ser281Tyr) c.572C>A (p.Ser191Tyr) c.542C>A (p.Ser181Tyr) |