| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.13283801G>A | CA180294 | PHYH | c.717C>T (p.Tyr239=) c.417C>T (p.Tyr139=) c.666C>T (p.Tyr222=) c.498C>T (p.Tyr166=) c.723C>T (p.Tyr241=) c.453C>T (p.Tyr151=) c.423C>T (p.Tyr141=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283801G>C | CA376034364 | PHYH | c.717C>G (p.Tyr239Ter) c.417C>G (p.Tyr139Ter) c.666C>G (p.Tyr222Ter) c.498C>G (p.Tyr166Ter) c.723C>G (p.Tyr241Ter) c.453C>G (p.Tyr151Ter) c.423C>G (p.Tyr141Ter) | ClinVar dbSNP gnomAD v4 |
| 10 | g.13283801G= | CA1891546572 | PHYH | c.717C= (p.Tyr239=) c.417C= (p.Tyr139=) c.666C= (p.Tyr222=) c.498C= (p.Tyr166=) c.723C= (p.Tyr241=) c.453C= (p.Tyr151=) c.423C= (p.Tyr141=) | |
| 10 | g.13283801G>T | CA376034366 | PHYH | c.717C>A (p.Tyr239Ter) c.417C>A (p.Tyr139Ter) c.666C>A (p.Tyr222Ter) c.498C>A (p.Tyr166Ter) c.723C>A (p.Tyr241Ter) c.453C>A (p.Tyr151Ter) c.423C>A (p.Tyr141Ter) | |
| 10 | g.13283802T>A | CA376034369 | PHYH | c.716A>T (p.Tyr239Phe) c.416A>T (p.Tyr139Phe) c.665A>T (p.Tyr222Phe) c.497A>T (p.Tyr166Phe) c.722A>T (p.Tyr241Phe) c.452A>T (p.Tyr151Phe) c.422A>T (p.Tyr141Phe) | |
| 10 | g.13283802T>C | CA203276360 | PHYH | c.716A>G (p.Tyr239Cys) c.416A>G (p.Tyr139Cys) c.665A>G (p.Tyr222Cys) c.497A>G (p.Tyr166Cys) c.722A>G (p.Tyr241Cys) c.452A>G (p.Tyr151Cys) c.422A>G (p.Tyr141Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13283802T>G | CA376034371 | PHYH | c.716A>C (p.Tyr239Ser) c.416A>C (p.Tyr139Ser) c.665A>C (p.Tyr222Ser) c.497A>C (p.Tyr166Ser) c.722A>C (p.Tyr241Ser) c.452A>C (p.Tyr151Ser) c.422A>C (p.Tyr141Ser) | |
| 10 | g.13283802T= | CA1891546582 | PHYH | c.716A= (p.Tyr239=) c.416A= (p.Tyr139=) c.665A= (p.Tyr222=) c.497A= (p.Tyr166=) c.722A= (p.Tyr241=) c.452A= (p.Tyr151=) c.422A= (p.Tyr141=) | |
| 10 | g.13283803A>C | CA376034374 | PHYH | c.715T>G (p.Tyr239Asp) c.415T>G (p.Tyr139Asp) c.664T>G (p.Tyr222Asp) c.496T>G (p.Tyr166Asp) c.721T>G (p.Tyr241Asp) c.451T>G (p.Tyr151Asp) c.421T>G (p.Tyr141Asp) | |
| 10 | g.13283803A>G | CA376034376 | PHYH | c.715T>C (p.Tyr239His) c.415T>C (p.Tyr139His) c.664T>C (p.Tyr222His) c.496T>C (p.Tyr166His) c.721T>C (p.Tyr241His) c.451T>C (p.Tyr151His) c.421T>C (p.Tyr141His) | |
| 10 | g.13283803A>T | CA376034377 | PHYH | c.715T>A (p.Tyr239Asn) c.415T>A (p.Tyr139Asn) c.664T>A (p.Tyr222Asn) c.496T>A (p.Tyr166Asn) c.721T>A (p.Tyr241Asn) c.451T>A (p.Tyr151Asn) c.421T>A (p.Tyr141Asn) | |
| 10 | g.13283804G>A | CA468237129 | PHYH | c.714C>T (p.Asp238=) c.414C>T (p.Asp138=) c.663C>T (p.Asp221=) c.495C>T (p.Asp165=) c.720C>T (p.Asp240=) c.450C>T (p.Asp150=) c.420C>T (p.Asp140=) | |
| 10 | g.13283804G>C | CA376034379 | PHYH | c.714C>G (p.Asp238Glu) c.414C>G (p.Asp138Glu) c.663C>G (p.Asp221Glu) c.495C>G (p.Asp165Glu) c.720C>G (p.Asp240Glu) c.450C>G (p.Asp150Glu) c.420C>G (p.Asp140Glu) | dbSNP |
| 10 | g.13283804G>T | CA376034381 | PHYH | c.714C>A (p.Asp238Glu) c.414C>A (p.Asp138Glu) c.663C>A (p.Asp221Glu) c.495C>A (p.Asp165Glu) c.720C>A (p.Asp240Glu) c.450C>A (p.Asp150Glu) c.420C>A (p.Asp140Glu) | |
| 10 | g.13283805T>A | CA376034383 | PHYH | c.713A>T (p.Asp238Val) c.413A>T (p.Asp138Val) c.662A>T (p.Asp221Val) c.494A>T (p.Asp165Val) c.719A>T (p.Asp240Val) c.449A>T (p.Asp150Val) c.419A>T (p.Asp140Val) | gnomAD v4 |
| 10 | g.13283805T>C | CA376034385 | PHYH | c.713A>G (p.Asp238Gly) c.413A>G (p.Asp138Gly) c.662A>G (p.Asp221Gly) c.494A>G (p.Asp165Gly) c.719A>G (p.Asp240Gly) c.449A>G (p.Asp150Gly) c.419A>G (p.Asp140Gly) | |
| 10 | g.13283805T>G | CA376034387 | PHYH | c.713A>C (p.Asp238Ala) c.413A>C (p.Asp138Ala) c.662A>C (p.Asp221Ala) c.494A>C (p.Asp165Ala) c.719A>C (p.Asp240Ala) c.449A>C (p.Asp150Ala) c.419A>C (p.Asp140Ala) | |
| 10 | g.13283806C>A | CA376034389 | PHYH | c.712G>T (p.Asp238Tyr) c.412G>T (p.Asp138Tyr) c.661G>T (p.Asp221Tyr) c.493G>T (p.Asp165Tyr) c.718G>T (p.Asp240Tyr) c.448G>T (p.Asp150Tyr) c.418G>T (p.Asp140Tyr) | dbSNP |
| 10 | g.13283806C= | CA1891546584 | PHYH | c.712G= (p.Asp238=) c.412G= (p.Asp138=) c.661G= (p.Asp221=) c.493G= (p.Asp165=) c.718G= (p.Asp240=) c.448G= (p.Asp150=) c.418G= (p.Asp140=) | |
| 10 | g.13283806C>G | CA376034391 | PHYH | c.712G>C (p.Asp238His) c.412G>C (p.Asp138His) c.661G>C (p.Asp221His) c.493G>C (p.Asp165His) c.718G>C (p.Asp240His) c.448G>C (p.Asp150His) c.418G>C (p.Asp140His) | dbSNP |
| 10 | g.13283806C>T | CA376034393 | PHYH | c.712G>A (p.Asp238Asn) c.412G>A (p.Asp138Asn) c.661G>A (p.Asp221Asn) c.493G>A (p.Asp165Asn) c.718G>A (p.Asp240Asn) c.448G>A (p.Asp150Asn) c.418G>A (p.Asp140Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13283807C>A | CA376034396 | PHYH | c.711G>T (p.Gln237His) c.411G>T (p.Gln137His) c.660G>T (p.Gln220His) c.492G>T (p.Gln164His) c.717G>T (p.Gln239His) c.447G>T (p.Gln149His) c.417G>T (p.Gln139His) | |
| 10 | g.13283807C>G | CA376034395 | PHYH | c.711G>C (p.Gln237His) c.411G>C (p.Gln137His) c.660G>C (p.Gln220His) c.492G>C (p.Gln164His) c.717G>C (p.Gln239His) c.447G>C (p.Gln149His) c.417G>C (p.Gln139His) | |
| 10 | g.13283807C>T | CA468237139 | PHYH | c.711G>A (p.Gln237=) c.411G>A (p.Gln137=) c.660G>A (p.Gln220=) c.492G>A (p.Gln164=) c.717G>A (p.Gln239=) c.447G>A (p.Gln149=) c.417G>A (p.Gln139=) | ClinVar gnomAD v4 |
| 10 | g.13283808T>A | CA376034399 | PHYH | c.710A>T (p.Gln237Leu) c.410A>T (p.Gln137Leu) c.659A>T (p.Gln220Leu) c.491A>T (p.Gln164Leu) c.716A>T (p.Gln239Leu) c.446A>T (p.Gln149Leu) c.416A>T (p.Gln139Leu) | |
| 10 | g.13283808T>C | CA376034401 | PHYH | c.710A>G (p.Gln237Arg) c.410A>G (p.Gln137Arg) c.659A>G (p.Gln220Arg) c.491A>G (p.Gln164Arg) c.716A>G (p.Gln239Arg) c.446A>G (p.Gln149Arg) c.416A>G (p.Gln139Arg) | |
| 10 | g.13283808T>G | CA376034403 | PHYH | c.710A>C (p.Gln237Pro) c.410A>C (p.Gln137Pro) c.659A>C (p.Gln220Pro) c.491A>C (p.Gln164Pro) c.716A>C (p.Gln239Pro) c.446A>C (p.Gln149Pro) c.416A>C (p.Gln139Pro) | |
| 10 | g.13283809G>A | CA376034405 | PHYH | c.709C>T (p.Gln237Ter) c.409C>T (p.Gln137Ter) c.658C>T (p.Gln220Ter) c.490C>T (p.Gln164Ter) c.715C>T (p.Gln239Ter) c.445C>T (p.Gln149Ter) c.415C>T (p.Gln139Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.13283809G>C | CA376034407 | PHYH | c.709C>G (p.Gln237Glu) c.409C>G (p.Gln137Glu) c.658C>G (p.Gln220Glu) c.490C>G (p.Gln164Glu) c.715C>G (p.Gln239Glu) c.445C>G (p.Gln149Glu) c.415C>G (p.Gln139Glu) | |
| 10 | g.13283809G= | CA1891546626 | PHYH | c.709C= (p.Gln237=) c.409C= (p.Gln137=) c.658C= (p.Gln220=) c.490C= (p.Gln164=) c.715C= (p.Gln239=) c.445C= (p.Gln149=) c.415C= (p.Gln139=) | |
| 10 | g.13283809G>T | CA376034409 | PHYH | c.709C>A (p.Gln237Lys) c.409C>A (p.Gln137Lys) c.658C>A (p.Gln220Lys) c.490C>A (p.Gln164Lys) c.715C>A (p.Gln239Lys) c.445C>A (p.Gln149Lys) c.415C>A (p.Gln139Lys) | |
| 10 | g.13283810G>A | CA468237150 | PHYH | c.708C>T (p.Ile236=) c.408C>T (p.Ile136=) c.657C>T (p.Ile219=) c.489C>T (p.Ile163=) c.714C>T (p.Ile238=) c.444C>T (p.Ile148=) c.414C>T (p.Ile138=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13283810G>C | CA376034410 | PHYH | c.708C>G (p.Ile236Met) c.408C>G (p.Ile136Met) c.657C>G (p.Ile219Met) c.489C>G (p.Ile163Met) c.714C>G (p.Ile238Met) c.444C>G (p.Ile148Met) c.414C>G (p.Ile138Met) | gnomAD v4 |
| 10 | g.13283810G= | CA1891546629 | PHYH | c.708C= (p.Ile236=) c.408C= (p.Ile136=) c.657C= (p.Ile219=) c.489C= (p.Ile163=) c.714C= (p.Ile238=) c.444C= (p.Ile148=) c.414C= (p.Ile138=) | |
| 10 | g.13283810G>T | CA468237149 | PHYH | c.708C>A (p.Ile236=) c.408C>A (p.Ile136=) c.657C>A (p.Ile219=) c.489C>A (p.Ile163=) c.714C>A (p.Ile238=) c.444C>A (p.Ile148=) c.414C>A (p.Ile138=) | |
| 10 | g.13283811A>C | CA376034412 | PHYH | c.707T>G (p.Ile236Ser) c.407T>G (p.Ile136Ser) c.656T>G (p.Ile219Ser) c.488T>G (p.Ile163Ser) c.713T>G (p.Ile238Ser) c.443T>G (p.Ile148Ser) c.413T>G (p.Ile138Ser) | |
| 10 | g.13283811A>G | CA376034414 | PHYH | c.707T>C (p.Ile236Thr) c.407T>C (p.Ile136Thr) c.656T>C (p.Ile219Thr) c.488T>C (p.Ile163Thr) c.713T>C (p.Ile238Thr) c.443T>C (p.Ile148Thr) c.413T>C (p.Ile138Thr) | |
| 10 | g.13283811A>T | CA376034416 | PHYH | c.707T>A (p.Ile236Asn) c.407T>A (p.Ile136Asn) c.656T>A (p.Ile219Asn) c.488T>A (p.Ile163Asn) c.713T>A (p.Ile238Asn) c.443T>A (p.Ile148Asn) c.413T>A (p.Ile138Asn) | |
| 10 | g.13283812T>A | CA376034419 | PHYH | c.706A>T (p.Ile236Phe) c.406A>T (p.Ile136Phe) c.655A>T (p.Ile219Phe) c.487A>T (p.Ile163Phe) c.712A>T (p.Ile238Phe) c.442A>T (p.Ile148Phe) c.412A>T (p.Ile138Phe) | |
| 10 | g.13283812T>C | CA376034420 | PHYH | c.706A>G (p.Ile236Val) c.406A>G (p.Ile136Val) c.655A>G (p.Ile219Val) c.487A>G (p.Ile163Val) c.712A>G (p.Ile238Val) c.442A>G (p.Ile148Val) c.412A>G (p.Ile138Val) | |
| 10 | g.13283812T>G | CA376034422 | PHYH | c.706A>C (p.Ile236Leu) c.406A>C (p.Ile136Leu) c.655A>C (p.Ile219Leu) c.487A>C (p.Ile163Leu) c.712A>C (p.Ile238Leu) c.442A>C (p.Ile148Leu) c.412A>C (p.Ile138Leu) | |
| 10 | g.13283813C>A | CA468237158 | PHYH | c.705G>T (p.Gly235=) c.405G>T (p.Gly135=) c.654G>T (p.Gly218=) c.486G>T (p.Gly162=) c.711G>T (p.Gly237=) c.441G>T (p.Gly147=) c.411G>T (p.Gly137=) | |
| 10 | g.13283813C= | CA1891546633 | PHYH | c.705G= (p.Gly235=) c.405G= (p.Gly135=) c.654G= (p.Gly218=) c.486G= (p.Gly162=) c.711G= (p.Gly237=) c.441G= (p.Gly147=) c.411G= (p.Gly137=) | |
| 10 | g.13283813C>G | CA468237159 | PHYH | c.705G>C (p.Gly235=) c.405G>C (p.Gly135=) c.654G>C (p.Gly218=) c.486G>C (p.Gly162=) c.711G>C (p.Gly237=) c.441G>C (p.Gly147=) c.411G>C (p.Gly137=) | dbSNP gnomAD v4 |
| 10 | g.13283813C>T | CA468237157 | PHYH | c.705G>A (p.Gly235=) c.405G>A (p.Gly135=) c.654G>A (p.Gly218=) c.486G>A (p.Gly162=) c.711G>A (p.Gly237=) c.441G>A (p.Gly147=) c.411G>A (p.Gly137=) | |
| 10 | g.13283815del | CA2574492088 | PHYH | c.705del (p.Ile236SerfsTer14) c.405del (p.Ile136SerfsTer14) c.654del (p.Ile219SerfsTer14) c.486del (p.Ile163SerfsTer14) c.711del (p.Ile238SerfsTer14) c.441del (p.Ile148SerfsTer14) c.411del (p.Ile138SerfsTer14) | |
| 10 | g.13283814C>A | CA376034425 | PHYH | c.704G>T (p.Gly235Val) c.404G>T (p.Gly135Val) c.653G>T (p.Gly218Val) c.485G>T (p.Gly162Val) c.710G>T (p.Gly237Val) c.440G>T (p.Gly147Val) c.410G>T (p.Gly137Val) | COSMIC |
| 10 | g.13283814C>G | CA376034427 | PHYH | c.704G>C (p.Gly235Ala) c.404G>C (p.Gly135Ala) c.653G>C (p.Gly218Ala) c.485G>C (p.Gly162Ala) c.710G>C (p.Gly237Ala) c.440G>C (p.Gly147Ala) c.410G>C (p.Gly137Ala) | |
| 10 | g.13283814C>T | CA376034426 | PHYH | c.704G>A (p.Gly235Glu) c.404G>A (p.Gly135Glu) c.653G>A (p.Gly218Glu) c.485G>A (p.Gly162Glu) c.710G>A (p.Gly237Glu) c.440G>A (p.Gly147Glu) c.410G>A (p.Gly137Glu) | gnomAD v4 |
| 10 | g.13283815C>A | CA376034430 | PHYH | c.703G>T (p.Gly235Trp) c.403G>T (p.Gly135Trp) c.652G>T (p.Gly218Trp) c.484G>T (p.Gly162Trp) c.709G>T (p.Gly237Trp) c.439G>T (p.Gly147Trp) c.409G>T (p.Gly137Trp) |