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.13283695G>A | CA118904 | PHYH | c.823C>T (p.Arg275Trp) c.523C>T (p.Arg175Trp) c.772C>T (p.Arg258Trp) c.604C>T (p.Arg202Trp) c.829C>T (p.Arg277Trp) c.559C>T (p.Arg187Trp) c.529C>T (p.Arg177Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283695G>C | CA376034047 | PHYH | c.823C>G (p.Arg275Gly) c.523C>G (p.Arg175Gly) c.772C>G (p.Arg258Gly) c.604C>G (p.Arg202Gly) c.829C>G (p.Arg277Gly) c.559C>G (p.Arg187Gly) c.529C>G (p.Arg177Gly) | |
| 10 | g.13283695G= | CA1891546399 | PHYH | c.823C= (p.Arg275=) c.523C= (p.Arg175=) c.772C= (p.Arg258=) c.604C= (p.Arg202=) c.829C= (p.Arg277=) c.559C= (p.Arg187=) c.529C= (p.Arg177=) | |
| 10 | g.13283695G>T | CA468236768 | PHYH | c.823C>A (p.Arg275=) c.523C>A (p.Arg175=) c.772C>A (p.Arg258=) c.604C>A (p.Arg202=) c.829C>A (p.Arg277=) c.559C>A (p.Arg187=) c.529C>A (p.Arg177=) | COSMIC |
| 10 | g.13283696G>A | CA468236770 | PHYH | c.822C>T (p.Phe274=) c.522C>T (p.Phe174=) c.771C>T (p.Phe257=) c.603C>T (p.Phe201=) c.828C>T (p.Phe276=) c.558C>T (p.Phe186=) c.528C>T (p.Phe176=) | |
| 10 | g.13283696G>C | CA376034049 | PHYH | c.822C>G (p.Phe274Leu) c.522C>G (p.Phe174Leu) c.771C>G (p.Phe257Leu) c.603C>G (p.Phe201Leu) c.828C>G (p.Phe276Leu) c.558C>G (p.Phe186Leu) c.528C>G (p.Phe176Leu) | |
| 10 | g.13283696G>T | CA376034048 | PHYH | c.822C>A (p.Phe274Leu) c.522C>A (p.Phe174Leu) c.771C>A (p.Phe257Leu) c.603C>A (p.Phe201Leu) c.828C>A (p.Phe276Leu) c.558C>A (p.Phe186Leu) c.528C>A (p.Phe176Leu) | |
| 10 | g.13283697A>C | CA376034050 | PHYH | c.821T>G (p.Phe274Cys) c.521T>G (p.Phe174Cys) c.770T>G (p.Phe257Cys) c.602T>G (p.Phe201Cys) c.827T>G (p.Phe276Cys) c.557T>G (p.Phe186Cys) c.527T>G (p.Phe176Cys) | |
| 10 | g.13283697A>G | CA376034051 | PHYH | c.821T>C (p.Phe274Ser) c.521T>C (p.Phe174Ser) c.770T>C (p.Phe257Ser) c.602T>C (p.Phe201Ser) c.827T>C (p.Phe276Ser) c.557T>C (p.Phe186Ser) c.527T>C (p.Phe176Ser) | |
| 10 | g.13283697A>T | CA376034052 | PHYH | c.821T>A (p.Phe274Tyr) c.521T>A (p.Phe174Tyr) c.770T>A (p.Phe257Tyr) c.602T>A (p.Phe201Tyr) c.827T>A (p.Phe276Tyr) c.557T>A (p.Phe186Tyr) c.527T>A (p.Phe176Tyr) | |
| 10 | g.13283698A= | CA1891546402 | PHYH | c.820T= (p.Phe274=) c.520T= (p.Phe174=) c.769T= (p.Phe257=) c.601T= (p.Phe201=) c.826T= (p.Phe276=) c.556T= (p.Phe186=) c.526T= (p.Phe176=) | |
| 10 | g.13283698A>C | CA376034053 | PHYH | c.820T>G (p.Phe274Val) c.520T>G (p.Phe174Val) c.769T>G (p.Phe257Val) c.601T>G (p.Phe201Val) c.826T>G (p.Phe276Val) c.556T>G (p.Phe186Val) c.526T>G (p.Phe176Val) | |
| 10 | g.13283698A>G | CA376034054 | PHYH | c.820T>C (p.Phe274Leu) c.520T>C (p.Phe174Leu) c.769T>C (p.Phe257Leu) c.601T>C (p.Phe201Leu) c.826T>C (p.Phe276Leu) c.556T>C (p.Phe186Leu) c.526T>C (p.Phe176Leu) | dbSNP gnomAD v4 |
| 10 | g.13283698A>T | CA376034055 | PHYH | c.820T>A (p.Phe274Ile) c.520T>A (p.Phe174Ile) c.769T>A (p.Phe257Ile) c.601T>A (p.Phe201Ile) c.826T>A (p.Phe276Ile) c.556T>A (p.Phe186Ile) c.526T>A (p.Phe176Ile) | |
| 10 | g.13283699T>A | CA468236780 | PHYH | c.819A>T (p.Gly273=) c.519A>T (p.Gly173=) c.768A>T (p.Gly256=) c.600A>T (p.Gly200=) c.825A>T (p.Gly275=) c.555A>T (p.Gly185=) c.525A>T (p.Gly175=) | |
| 10 | g.13283699T>C | CA468236783 | PHYH | c.819A>G (p.Gly273=) c.519A>G (p.Gly173=) c.768A>G (p.Gly256=) c.600A>G (p.Gly200=) c.825A>G (p.Gly275=) c.555A>G (p.Gly185=) c.525A>G (p.Gly175=) | |
| 10 | g.13283699T>G | CA468236782 | PHYH | c.819A>C (p.Gly273=) c.519A>C (p.Gly173=) c.768A>C (p.Gly256=) c.600A>C (p.Gly200=) c.825A>C (p.Gly275=) c.555A>C (p.Gly185=) c.525A>C (p.Gly175=) | |
| 10 | g.13283700C>A | CA5412238 | PHYH | c.818G>T (p.Gly273Val) c.518G>T (p.Gly173Val) c.767G>T (p.Gly256Val) c.599G>T (p.Gly200Val) c.824G>T (p.Gly275Val) c.554G>T (p.Gly185Val) c.524G>T (p.Gly175Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.13283700C= | CA1891546405 | PHYH | c.818G= (p.Gly273=) c.518G= (p.Gly173=) c.767G= (p.Gly256=) c.599G= (p.Gly200=) c.824G= (p.Gly275=) c.554G= (p.Gly185=) c.524G= (p.Gly175=) | |
| 10 | g.13283700C>G | CA376034056 | PHYH | c.818G>C (p.Gly273Ala) c.518G>C (p.Gly173Ala) c.767G>C (p.Gly256Ala) c.599G>C (p.Gly200Ala) c.824G>C (p.Gly275Ala) c.554G>C (p.Gly185Ala) c.524G>C (p.Gly175Ala) | |
| 10 | g.13283700C>T | CA376034057 | PHYH | c.818G>A (p.Gly273Glu) c.518G>A (p.Gly173Glu) c.767G>A (p.Gly256Glu) c.599G>A (p.Gly200Glu) c.824G>A (p.Gly275Glu) c.554G>A (p.Gly185Glu) c.524G>A (p.Gly175Glu) | gnomAD v4 |
| 10 | g.13283701C>A | CA376034058 | PHYH | c.817G>T (p.Gly273Ter) c.517G>T (p.Gly173Ter) c.766G>T (p.Gly256Ter) c.598G>T (p.Gly200Ter) c.823G>T (p.Gly275Ter) c.553G>T (p.Gly185Ter) c.523G>T (p.Gly175Ter) | ClinVar |
| 10 | g.13283701C= | CA1891546410 | PHYH | c.817G= (p.Gly273=) c.517G= (p.Gly173=) c.766G= (p.Gly256=) c.598G= (p.Gly200=) c.823G= (p.Gly275=) c.553G= (p.Gly185=) c.523G= (p.Gly175=) | |
| 10 | g.13283701C>G | CA376034059 | PHYH | c.817G>C (p.Gly273Arg) c.517G>C (p.Gly173Arg) c.766G>C (p.Gly256Arg) c.598G>C (p.Gly200Arg) c.823G>C (p.Gly275Arg) c.553G>C (p.Gly185Arg) c.523G>C (p.Gly175Arg) | |
| 10 | g.13283701C>T | CA5412239 | PHYH | c.817G>A (p.Gly273Arg) c.517G>A (p.Gly173Arg) c.766G>A (p.Gly256Arg) c.598G>A (p.Gly200Arg) c.823G>A (p.Gly275Arg) c.553G>A (p.Gly185Arg) c.523G>A (p.Gly175Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.13283702C>A | CA376034060 | PHYH | c.816G>T (p.Gln272His) c.516G>T (p.Gln172His) c.765G>T (p.Gln255His) c.597G>T (p.Gln199His) c.822G>T (p.Gln274His) c.552G>T (p.Gln184His) c.522G>T (p.Gln174His) | |
| 10 | g.13283702C>G | CA376034061 | PHYH | c.816G>C (p.Gln272His) c.516G>C (p.Gln172His) c.765G>C (p.Gln255His) c.597G>C (p.Gln199His) c.822G>C (p.Gln274His) c.552G>C (p.Gln184His) c.522G>C (p.Gln174His) | |
| 10 | g.13283702C>T | CA468236797 | PHYH | c.816G>A (p.Gln272=) c.516G>A (p.Gln172=) c.765G>A (p.Gln255=) c.597G>A (p.Gln199=) c.822G>A (p.Gln274=) c.552G>A (p.Gln184=) c.522G>A (p.Gln174=) | |
| 10 | g.13283703T>A | CA376034062 | PHYH | c.815A>T (p.Gln272Leu) c.515A>T (p.Gln172Leu) c.764A>T (p.Gln255Leu) c.596A>T (p.Gln199Leu) c.821A>T (p.Gln274Leu) c.551A>T (p.Gln184Leu) c.521A>T (p.Gln174Leu) | ClinVar dbSNP |
| 10 | g.13283703T>C | CA376034064 | PHYH | c.815A>G (p.Gln272Arg) c.515A>G (p.Gln172Arg) c.764A>G (p.Gln255Arg) c.596A>G (p.Gln199Arg) c.821A>G (p.Gln274Arg) c.551A>G (p.Gln184Arg) c.521A>G (p.Gln174Arg) | |
| 10 | g.13283703T>G | CA376034063 | PHYH | c.815A>C (p.Gln272Pro) c.515A>C (p.Gln172Pro) c.764A>C (p.Gln255Pro) c.596A>C (p.Gln199Pro) c.821A>C (p.Gln274Pro) c.551A>C (p.Gln184Pro) c.521A>C (p.Gln174Pro) | |
| 10 | g.13283704G>A | CA376034065 | PHYH | c.814C>T (p.Gln272Ter) c.514C>T (p.Gln172Ter) c.763C>T (p.Gln255Ter) c.595C>T (p.Gln199Ter) c.820C>T (p.Gln274Ter) c.550C>T (p.Gln184Ter) c.520C>T (p.Gln174Ter) | |
| 10 | g.13283704G>C | CA376034066 | PHYH | c.814C>G (p.Gln272Glu) c.514C>G (p.Gln172Glu) c.763C>G (p.Gln255Glu) c.595C>G (p.Gln199Glu) c.820C>G (p.Gln274Glu) c.550C>G (p.Gln184Glu) c.520C>G (p.Gln174Glu) | |
| 10 | g.13283704G>T | CA376034067 | PHYH | c.814C>A (p.Gln272Lys) c.514C>A (p.Gln172Lys) c.763C>A (p.Gln255Lys) c.595C>A (p.Gln199Lys) c.820C>A (p.Gln274Lys) c.550C>A (p.Gln184Lys) c.520C>A (p.Gln174Lys) | |
| 10 | g.13283705G>A | CA468236803 | PHYH | c.813C>T (p.Thr271=) c.513C>T (p.Thr171=) c.762C>T (p.Thr254=) c.594C>T (p.Thr198=) c.819C>T (p.Thr273=) c.549C>T (p.Thr183=) c.519C>T (p.Thr173=) | |
| 10 | g.13283705G>C | CA468236805 | PHYH | c.813C>G (p.Thr271=) c.513C>G (p.Thr171=) c.762C>G (p.Thr254=) c.594C>G (p.Thr198=) c.819C>G (p.Thr273=) c.549C>G (p.Thr183=) c.519C>G (p.Thr173=) | |
| 10 | g.13283705G>T | CA468236806 | PHYH | c.813C>A (p.Thr271=) c.513C>A (p.Thr171=) c.762C>A (p.Thr254=) c.594C>A (p.Thr198=) c.819C>A (p.Thr273=) c.549C>A (p.Thr183=) c.519C>A (p.Thr173=) | |
| 10 | g.13283706G>A | CA376034068 | PHYH | c.812C>T (p.Thr271Ile) c.512C>T (p.Thr171Ile) c.761C>T (p.Thr254Ile) c.593C>T (p.Thr198Ile) c.818C>T (p.Thr273Ile) c.548C>T (p.Thr183Ile) c.518C>T (p.Thr173Ile) | |
| 10 | g.13283706G>C | CA376034069 | PHYH | c.812C>G (p.Thr271Ser) c.512C>G (p.Thr171Ser) c.761C>G (p.Thr254Ser) c.593C>G (p.Thr198Ser) c.818C>G (p.Thr273Ser) c.548C>G (p.Thr183Ser) c.518C>G (p.Thr173Ser) | |
| 10 | g.13283706G= | CA1891546413 | PHYH | c.812C= (p.Thr271=) c.512C= (p.Thr171=) c.761C= (p.Thr254=) c.593C= (p.Thr198=) c.818C= (p.Thr273=) c.548C= (p.Thr183=) c.518C= (p.Thr173=) | |
| 10 | g.13283706G>T | CA376034070 | PHYH | c.812C>A (p.Thr271Asn) c.512C>A (p.Thr171Asn) c.761C>A (p.Thr254Asn) c.593C>A (p.Thr198Asn) c.818C>A (p.Thr273Asn) c.548C>A (p.Thr183Asn) c.518C>A (p.Thr173Asn) | dbSNP gnomAD v4 |
| 10 | g.13283707T>A | CA376034071 | PHYH | c.811A>T (p.Thr271Ser) c.511A>T (p.Thr171Ser) c.760A>T (p.Thr254Ser) c.592A>T (p.Thr198Ser) c.817A>T (p.Thr273Ser) c.547A>T (p.Thr183Ser) c.517A>T (p.Thr173Ser) | |
| 10 | g.13283707T>C | CA376034072 | PHYH | c.811A>G (p.Thr271Ala) c.511A>G (p.Thr171Ala) c.760A>G (p.Thr254Ala) c.592A>G (p.Thr198Ala) c.817A>G (p.Thr273Ala) c.547A>G (p.Thr183Ala) c.517A>G (p.Thr173Ala) | |
| 10 | g.13283707T>G | CA376034073 | PHYH | c.811A>C (p.Thr271Pro) c.511A>C (p.Thr171Pro) c.760A>C (p.Thr254Pro) c.592A>C (p.Thr198Pro) c.817A>C (p.Thr273Pro) c.547A>C (p.Thr183Pro) c.517A>C (p.Thr173Pro) | |
| 10 | g.13283710del | CA2018072149 | PHYH | c.811del (p.Thr271ProfsTer22) c.511del (p.Thr171ProfsTer22) c.760del (p.Thr254ProfsTer22) c.511del (p.Thr171ProfsTer?) c.592del (p.Thr198ProfsTer22) c.817del (p.Thr273ProfsTer22) c.547del (p.Thr183ProfsTer22) c.517del (p.Thr173ProfsTer22) | ClinVar dbSNP |
| 10 | g.13283708T>A | CA376034074 | PHYH | c.810A>T (p.Lys270Asn) c.510A>T (p.Lys170Asn) c.759A>T (p.Lys253Asn) c.591A>T (p.Lys197Asn) c.816A>T (p.Lys272Asn) c.546A>T (p.Lys182Asn) c.516A>T (p.Lys172Asn) | |
| 10 | g.13283708T>C | CA468236815 | PHYH | c.810A>G (p.Lys270=) c.510A>G (p.Lys170=) c.759A>G (p.Lys253=) c.591A>G (p.Lys197=) c.816A>G (p.Lys272=) c.546A>G (p.Lys182=) c.516A>G (p.Lys172=) | |
| 10 | g.13283708T>G | CA376034075 | PHYH | c.810A>C (p.Lys270Asn) c.510A>C (p.Lys170Asn) c.759A>C (p.Lys253Asn) c.591A>C (p.Lys197Asn) c.816A>C (p.Lys272Asn) c.546A>C (p.Lys182Asn) c.516A>C (p.Lys172Asn) | |
| 10 | g.13283709T>A | CA376034078 | PHYH | c.809A>T (p.Lys270Ile) c.509A>T (p.Lys170Ile) c.758A>T (p.Lys253Ile) c.590A>T (p.Lys197Ile) c.815A>T (p.Lys272Ile) c.545A>T (p.Lys182Ile) c.515A>T (p.Lys172Ile) | |
| 10 | g.13283709T>C | CA376034077 | PHYH | c.809A>G (p.Lys270Arg) c.509A>G (p.Lys170Arg) c.758A>G (p.Lys253Arg) c.590A>G (p.Lys197Arg) c.815A>G (p.Lys272Arg) c.545A>G (p.Lys182Arg) c.515A>G (p.Lys172Arg) | |
| 10 | g.13283709T>G | CA376034076 | PHYH | c.809A>C (p.Lys270Thr) c.509A>C (p.Lys170Thr) c.758A>C (p.Lys253Thr) c.590A>C (p.Lys197Thr) c.815A>C (p.Lys272Thr) c.545A>C (p.Lys182Thr) c.515A>C (p.Lys172Thr) | |
| 10 | g.13283710T>A | CA376034079 | PHYH | c.808A>T (p.Lys270Ter) c.508A>T (p.Lys170Ter) c.757A>T (p.Lys253Ter) c.589A>T (p.Lys197Ter) c.814A>T (p.Lys272Ter) c.544A>T (p.Lys182Ter) c.514A>T (p.Lys172Ter) | |
| 10 | g.13283710T>C | CA376034081 | PHYH | c.808A>G (p.Lys270Glu) c.508A>G (p.Lys170Glu) c.757A>G (p.Lys253Glu) c.589A>G (p.Lys197Glu) c.814A>G (p.Lys272Glu) c.544A>G (p.Lys182Glu) c.514A>G (p.Lys172Glu) | |
| 10 | g.13283710T>G | CA376034080 | PHYH | c.808A>C (p.Lys270Gln) c.508A>C (p.Lys170Gln) c.757A>C (p.Lys253Gln) c.589A>C (p.Lys197Gln) c.814A>C (p.Lys272Gln) c.544A>C (p.Lys182Gln) c.514A>C (p.Lys172Gln) | |
| 10 | g.13283711A= | CA1891546415 | PHYH | c.807T= (p.Asn269=) c.507T= (p.Asn169=) c.756T= (p.Asn252=) c.588T= (p.Asn196=) c.813T= (p.Asn271=) c.543T= (p.Asn181=) c.513T= (p.Asn171=) | |
| 10 | g.13283711A>C | CA376034082 | PHYH | c.807T>G (p.Asn269Lys) c.507T>G (p.Asn169Lys) c.756T>G (p.Asn252Lys) c.588T>G (p.Asn196Lys) c.813T>G (p.Asn271Lys) c.543T>G (p.Asn181Lys) c.513T>G (p.Asn171Lys) | |
| 10 | g.13283711A>G | CA468236824 | PHYH | c.807T>C (p.Asn269=) c.507T>C (p.Asn169=) c.756T>C (p.Asn252=) c.588T>C (p.Asn196=) c.813T>C (p.Asn271=) c.543T>C (p.Asn181=) c.513T>C (p.Asn171=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.13283711A>T | CA376034083 | PHYH | c.807T>A (p.Asn269Lys) c.507T>A (p.Asn169Lys) c.756T>A (p.Asn252Lys) c.588T>A (p.Asn196Lys) c.813T>A (p.Asn271Lys) c.543T>A (p.Asn181Lys) c.513T>A (p.Asn171Lys) | |
| 10 | g.13283712T>A | CA376034084 | PHYH | c.806A>T (p.Asn269Ile) c.506A>T (p.Asn169Ile) c.755A>T (p.Asn252Ile) c.587A>T (p.Asn196Ile) c.812A>T (p.Asn271Ile) c.542A>T (p.Asn181Ile) c.512A>T (p.Asn171Ile) | |
| 10 | g.13283712T>C | CA376034085 | PHYH | c.806A>G (p.Asn269Ser) c.506A>G (p.Asn169Ser) c.755A>G (p.Asn252Ser) c.587A>G (p.Asn196Ser) c.812A>G (p.Asn271Ser) c.542A>G (p.Asn181Ser) c.512A>G (p.Asn171Ser) | |
| 10 | g.13283712T>G | CA376034086 | PHYH | c.806A>C (p.Asn269Thr) c.506A>C (p.Asn169Thr) c.755A>C (p.Asn252Thr) c.587A>C (p.Asn196Thr) c.812A>C (p.Asn271Thr) c.542A>C (p.Asn181Thr) c.512A>C (p.Asn171Thr) | |
| 10 | g.13283713T>A | CA376034087 | PHYH | c.805A>T (p.Asn269Tyr) c.505A>T (p.Asn169Tyr) c.754A>T (p.Asn252Tyr) c.586A>T (p.Asn196Tyr) c.811A>T (p.Asn271Tyr) c.541A>T (p.Asn181Tyr) c.511A>T (p.Asn171Tyr) | |
| 10 | g.13283713T>C | CA376034088 | PHYH | c.805A>G (p.Asn269Asp) c.505A>G (p.Asn169Asp) c.754A>G (p.Asn252Asp) c.586A>G (p.Asn196Asp) c.811A>G (p.Asn271Asp) c.541A>G (p.Asn181Asp) c.511A>G (p.Asn171Asp) | |
| 10 | g.13283713T>G | CA118905 | PHYH | c.805A>C (p.Asn269His) c.505A>C (p.Asn169His) c.754A>C (p.Asn252His) c.586A>C (p.Asn196His) c.811A>C (p.Asn271His) c.541A>C (p.Asn181His) c.511A>C (p.Asn171His) | ClinVar dbSNP gnomAD v4 |
| 10 | g.13283713T= | CA1891546420 | PHYH | c.805A= (p.Asn269=) c.505A= (p.Asn169=) c.754A= (p.Asn252=) c.586A= (p.Asn196=) c.811A= (p.Asn271=) c.541A= (p.Asn181=) c.511A= (p.Asn171=) | |
| 10 | g.13283714C>A | CA376034089 | PHYH | c.804G>T (p.Gln268His) c.504G>T (p.Gln168His) c.753G>T (p.Gln251His) c.585G>T (p.Gln195His) c.810G>T (p.Gln270His) c.540G>T (p.Gln180His) c.510G>T (p.Gln170His) | |
| 10 | g.13283714C>G | CA376034090 | PHYH | c.804G>C (p.Gln268His) c.504G>C (p.Gln168His) c.753G>C (p.Gln251His) c.585G>C (p.Gln195His) c.810G>C (p.Gln270His) c.540G>C (p.Gln180His) c.510G>C (p.Gln170His) | |
| 10 | g.13283714C>T | CA468236832 | PHYH | c.804G>A (p.Gln268=) c.504G>A (p.Gln168=) c.753G>A (p.Gln251=) c.585G>A (p.Gln195=) c.810G>A (p.Gln270=) c.540G>A (p.Gln180=) c.510G>A (p.Gln170=) | |
| 10 | g.13283715T>A | CA376034093 | PHYH | c.803A>T (p.Gln268Leu) c.503A>T (p.Gln168Leu) c.752A>T (p.Gln251Leu) c.584A>T (p.Gln195Leu) c.809A>T (p.Gln270Leu) c.539A>T (p.Gln180Leu) c.509A>T (p.Gln170Leu) | |
| 10 | g.13283715T>C | CA376034092 | PHYH | c.803A>G (p.Gln268Arg) c.503A>G (p.Gln168Arg) c.752A>G (p.Gln251Arg) c.584A>G (p.Gln195Arg) c.809A>G (p.Gln270Arg) c.539A>G (p.Gln180Arg) c.509A>G (p.Gln170Arg) | |
| 10 | g.13283715T>G | CA376034091 | PHYH | c.803A>C (p.Gln268Pro) c.503A>C (p.Gln168Pro) c.752A>C (p.Gln251Pro) c.584A>C (p.Gln195Pro) c.809A>C (p.Gln270Pro) c.539A>C (p.Gln180Pro) c.509A>C (p.Gln170Pro) | |
| 10 | g.13283716G>A | CA376034094 | PHYH | c.802C>T (p.Gln268Ter) c.502C>T (p.Gln168Ter) c.751C>T (p.Gln251Ter) c.583C>T (p.Gln195Ter) c.808C>T (p.Gln270Ter) c.538C>T (p.Gln180Ter) c.508C>T (p.Gln170Ter) | ClinVar gnomAD v4 |
| 10 | g.13283716G>C | CA376034095 | PHYH | c.802C>G (p.Gln268Glu) c.502C>G (p.Gln168Glu) c.751C>G (p.Gln251Glu) c.583C>G (p.Gln195Glu) c.808C>G (p.Gln270Glu) c.538C>G (p.Gln180Glu) c.508C>G (p.Gln170Glu) | |
| 10 | g.13283716G>T | CA376034096 | PHYH | c.802C>A (p.Gln268Lys) c.502C>A (p.Gln168Lys) c.751C>A (p.Gln251Lys) c.583C>A (p.Gln195Lys) c.808C>A (p.Gln270Lys) c.538C>A (p.Gln180Lys) c.508C>A (p.Gln170Lys) | |
| 10 | g.13283717A>C | CA468236835 | PHYH | c.801T>G (p.Gly267=) c.501T>G (p.Gly167=) c.750T>G (p.Gly250=) c.582T>G (p.Gly194=) c.807T>G (p.Gly269=) c.537T>G (p.Gly179=) c.507T>G (p.Gly169=) | |
| 10 | g.13283717A>G | CA468236836 | PHYH | c.801T>C (p.Gly267=) c.501T>C (p.Gly167=) c.750T>C (p.Gly250=) c.582T>C (p.Gly194=) c.807T>C (p.Gly269=) c.537T>C (p.Gly179=) c.507T>C (p.Gly169=) | |
| 10 | g.13283717A>T | CA468236837 | PHYH | c.801T>A (p.Gly267=) c.501T>A (p.Gly167=) c.750T>A (p.Gly250=) c.582T>A (p.Gly194=) c.807T>A (p.Gly269=) c.537T>A (p.Gly179=) c.507T>A (p.Gly169=) | |
| 10 | g.13283717_13283718delinsAC | CA1891546425 | PHYH | c.800_801delinsGT (p.Gly267=) c.500_501delinsGT (p.Gly167=) c.749_750delinsGT (p.Gly250=) c.581_582delinsGT (p.Gly194=) c.806_807delinsGT (p.Gly269=) c.536_537delinsGT (p.Gly179=) c.506_507delinsGT (p.Gly169=) | |
| 10 | g.13283718C>A | CA376034097 | PHYH | c.800G>T (p.Gly267Val) c.500G>T (p.Gly167Val) c.749G>T (p.Gly250Val) c.581G>T (p.Gly194Val) c.806G>T (p.Gly269Val) c.536G>T (p.Gly179Val) c.506G>T (p.Gly169Val) | |
| 10 | g.13283718C>G | CA376034098 | PHYH | c.800G>C (p.Gly267Ala) c.500G>C (p.Gly167Ala) c.749G>C (p.Gly250Ala) c.581G>C (p.Gly194Ala) c.806G>C (p.Gly269Ala) c.536G>C (p.Gly179Ala) c.506G>C (p.Gly169Ala) | |
| 10 | g.13283718C>T | CA376034099 | PHYH | c.800G>A (p.Gly267Asp) c.500G>A (p.Gly167Asp) c.749G>A (p.Gly250Asp) c.581G>A (p.Gly194Asp) c.806G>A (p.Gly269Asp) c.536G>A (p.Gly179Asp) c.506G>A (p.Gly169Asp) | |
| 10 | g.13283719del | CA592075150 | PHYH | c.800del (p.Gly267ValfsTer26) c.500del (p.Gly167ValfsTer26) c.749del (p.Gly250ValfsTer26) c.500del (p.Gly167ValfsTer?) c.581del (p.Gly194ValfsTer26) c.806del (p.Gly269ValfsTer26) c.536del (p.Gly179ValfsTer26) c.506del (p.Gly169ValfsTer26) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13283719C>A | CA376034100 | PHYH | c.799G>T (p.Gly267Cys) c.499G>T (p.Gly167Cys) c.748G>T (p.Gly250Cys) c.580G>T (p.Gly194Cys) c.805G>T (p.Gly269Cys) c.535G>T (p.Gly179Cys) c.505G>T (p.Gly169Cys) | |
| 10 | g.13283719C= | CA1891546429 | PHYH | c.799G= (p.Gly267=) c.499G= (p.Gly167=) c.748G= (p.Gly250=) c.580G= (p.Gly194=) c.805G= (p.Gly269=) c.535G= (p.Gly179=) c.505G= (p.Gly169=) | |
| 10 | g.13283719C>G | CA376034101 | PHYH | c.799G>C (p.Gly267Arg) c.499G>C (p.Gly167Arg) c.748G>C (p.Gly250Arg) c.580G>C (p.Gly194Arg) c.805G>C (p.Gly269Arg) c.535G>C (p.Gly179Arg) c.505G>C (p.Gly169Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13283719C>T | CA376034102 | PHYH | c.799G>A (p.Gly267Ser) c.499G>A (p.Gly167Ser) c.748G>A (p.Gly250Ser) c.580G>A (p.Gly194Ser) c.805G>A (p.Gly269Ser) c.535G>A (p.Gly179Ser) c.505G>A (p.Gly169Ser) | |
| 10 | g.13283720A>C | CA468236843 | PHYH | c.798T>G (p.Ser266=) c.498T>G (p.Ser166=) c.747T>G (p.Ser249=) c.579T>G (p.Ser193=) c.804T>G (p.Ser268=) c.534T>G (p.Ser178=) c.504T>G (p.Ser168=) | |
| 10 | g.13283720A>G | CA468236846 | PHYH | c.798T>C (p.Ser266=) c.498T>C (p.Ser166=) c.747T>C (p.Ser249=) c.579T>C (p.Ser193=) c.804T>C (p.Ser268=) c.534T>C (p.Ser178=) c.504T>C (p.Ser168=) | |
| 10 | g.13283720A>T | CA468236847 | PHYH | c.798T>A (p.Ser266=) c.498T>A (p.Ser166=) c.747T>A (p.Ser249=) c.579T>A (p.Ser193=) c.804T>A (p.Ser268=) c.534T>A (p.Ser178=) c.504T>A (p.Ser168=) | |
| 10 | g.13283721G>A | CA376034103 | PHYH | c.797C>T (p.Ser266Phe) c.497C>T (p.Ser166Phe) c.746C>T (p.Ser249Phe) c.578C>T (p.Ser193Phe) c.803C>T (p.Ser268Phe) c.533C>T (p.Ser178Phe) c.503C>T (p.Ser168Phe) | |
| 10 | g.13283721G>C | CA376034104 | PHYH | c.797C>G (p.Ser266Cys) c.497C>G (p.Ser166Cys) c.746C>G (p.Ser249Cys) c.578C>G (p.Ser193Cys) c.803C>G (p.Ser268Cys) c.533C>G (p.Ser178Cys) c.503C>G (p.Ser168Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283721G= | CA1891546433 | PHYH | c.797C= (p.Ser266=) c.497C= (p.Ser166=) c.746C= (p.Ser249=) c.578C= (p.Ser193=) c.803C= (p.Ser268=) c.533C= (p.Ser178=) c.503C= (p.Ser168=) | |
| 10 | g.13283721G>T | CA376034105 | PHYH | c.797C>A (p.Ser266Tyr) c.497C>A (p.Ser166Tyr) c.746C>A (p.Ser249Tyr) c.578C>A (p.Ser193Tyr) c.803C>A (p.Ser268Tyr) c.533C>A (p.Ser178Tyr) c.503C>A (p.Ser168Tyr) | |
| 10 | g.13283722A>C | CA376034107 | PHYH | c.796T>G (p.Ser266Ala) c.496T>G (p.Ser166Ala) c.745T>G (p.Ser249Ala) c.577T>G (p.Ser193Ala) c.802T>G (p.Ser268Ala) c.532T>G (p.Ser178Ala) c.502T>G (p.Ser168Ala) | |
| 10 | g.13283722A>G | CA376034108 | PHYH | c.796T>C (p.Ser266Pro) c.496T>C (p.Ser166Pro) c.745T>C (p.Ser249Pro) c.577T>C (p.Ser193Pro) c.802T>C (p.Ser268Pro) c.532T>C (p.Ser178Pro) c.502T>C (p.Ser168Pro) | |
| 10 | g.13283722A>T | CA376034106 | PHYH | c.796T>A (p.Ser266Thr) c.496T>A (p.Ser166Thr) c.745T>A (p.Ser249Thr) c.577T>A (p.Ser193Thr) c.802T>A (p.Ser268Thr) c.532T>A (p.Ser178Thr) c.502T>A (p.Ser168Thr) | |
| 10 | g.13283723T>A | CA468236853 | PHYH | c.795A>T (p.Gly265=) c.495A>T (p.Gly165=) c.744A>T (p.Gly248=) c.576A>T (p.Gly192=) c.801A>T (p.Gly267=) c.531A>T (p.Gly177=) c.501A>T (p.Gly167=) | |
| 10 | g.13283723T>C | CA468236855 | PHYH | c.795A>G (p.Gly265=) c.495A>G (p.Gly165=) c.744A>G (p.Gly248=) c.576A>G (p.Gly192=) c.801A>G (p.Gly267=) c.531A>G (p.Gly177=) c.501A>G (p.Gly167=) | |
| 10 | g.13283723T>G | CA5412240 | PHYH | c.795A>C (p.Gly265=) c.495A>C (p.Gly165=) c.744A>C (p.Gly248=) c.576A>C (p.Gly192=) c.801A>C (p.Gly267=) c.531A>C (p.Gly177=) c.501A>C (p.Gly167=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.13283723T= | CA1891546435 | PHYH | c.795A= (p.Gly265=) c.495A= (p.Gly165=) c.744A= (p.Gly248=) c.576A= (p.Gly192=) c.801A= (p.Gly267=) c.531A= (p.Gly177=) c.501A= (p.Gly167=) | |
| 10 | g.13283724C>A | CA376034109 | PHYH | c.794G>T (p.Gly265Val) c.494G>T (p.Gly165Val) c.743G>T (p.Gly248Val) c.575G>T (p.Gly192Val) c.800G>T (p.Gly267Val) c.530G>T (p.Gly177Val) c.500G>T (p.Gly167Val) | |
| 10 | g.13283724C>G | CA376034110 | PHYH | c.794G>C (p.Gly265Ala) c.494G>C (p.Gly165Ala) c.743G>C (p.Gly248Ala) c.575G>C (p.Gly192Ala) c.800G>C (p.Gly267Ala) c.530G>C (p.Gly177Ala) c.500G>C (p.Gly167Ala) | gnomAD v4 |
| 10 | g.13283724C>T | CA376034111 | PHYH | c.794G>A (p.Gly265Glu) c.494G>A (p.Gly165Glu) c.743G>A (p.Gly248Glu) c.575G>A (p.Gly192Glu) c.800G>A (p.Gly267Glu) c.530G>A (p.Gly177Glu) c.500G>A (p.Gly167Glu) | |
| 10 | g.13283725C>A | CA376034112 | PHYH | c.793G>T (p.Gly265Ter) c.493G>T (p.Gly165Ter) c.742G>T (p.Gly248Ter) c.574G>T (p.Gly192Ter) c.799G>T (p.Gly267Ter) c.529G>T (p.Gly177Ter) c.499G>T (p.Gly167Ter) | |
| 10 | g.13283725C= | CA1891546439 | PHYH | c.793G= (p.Gly265=) c.493G= (p.Gly165=) c.742G= (p.Gly248=) c.574G= (p.Gly192=) c.799G= (p.Gly267=) c.529G= (p.Gly177=) c.499G= (p.Gly167=) | |
| 10 | g.13283725C>G | CA376034113 | PHYH | c.793G>C (p.Gly265Arg) c.493G>C (p.Gly165Arg) c.742G>C (p.Gly248Arg) c.574G>C (p.Gly192Arg) c.799G>C (p.Gly267Arg) c.529G>C (p.Gly177Arg) c.499G>C (p.Gly167Arg) | |
| 10 | g.13283725C>T | CA203276251 | PHYH | c.793G>A (p.Gly265Arg) c.493G>A (p.Gly165Arg) c.742G>A (p.Gly248Arg) c.574G>A (p.Gly192Arg) c.799G>A (p.Gly267Arg) c.529G>A (p.Gly177Arg) c.499G>A (p.Gly167Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283726G>A | CA5412241 | PHYH | c.792C>T (p.His264=) c.492C>T (p.His164=) c.741C>T (p.His247=) c.573C>T (p.His191=) c.798C>T (p.His266=) c.528C>T (p.His176=) c.498C>T (p.His166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283726G>C | CA376034114 | PHYH | c.792C>G (p.His264Gln) c.492C>G (p.His164Gln) c.741C>G (p.His247Gln) c.573C>G (p.His191Gln) c.798C>G (p.His266Gln) c.528C>G (p.His176Gln) c.498C>G (p.His166Gln) | |
| 10 | g.13283726G= | CA1891546447 | PHYH | c.792C= (p.His264=) c.492C= (p.His164=) c.741C= (p.His247=) c.573C= (p.His191=) c.798C= (p.His266=) c.528C= (p.His176=) c.498C= (p.His166=) | |
| 10 | g.13283726G>T | CA376034115 | PHYH | c.792C>A (p.His264Gln) c.492C>A (p.His164Gln) c.741C>A (p.His247Gln) c.573C>A (p.His191Gln) c.798C>A (p.His266Gln) c.528C>A (p.His176Gln) c.498C>A (p.His166Gln) | |
| 10 | g.13283727T>A | CA376034116 | PHYH | c.791A>T (p.His264Leu) c.491A>T (p.His164Leu) c.740A>T (p.His247Leu) c.572A>T (p.His191Leu) c.797A>T (p.His266Leu) c.527A>T (p.His176Leu) c.497A>T (p.His166Leu) | COSMIC |
| 10 | g.13283727T>C | CA376034117 | PHYH | c.791A>G (p.His264Arg) c.491A>G (p.His164Arg) c.740A>G (p.His247Arg) c.572A>G (p.His191Arg) c.797A>G (p.His266Arg) c.527A>G (p.His176Arg) c.497A>G (p.His166Arg) | |
| 10 | g.13283727T>G | CA376034118 | PHYH | c.791A>C (p.His264Pro) c.491A>C (p.His164Pro) c.740A>C (p.His247Pro) c.572A>C (p.His191Pro) c.797A>C (p.His266Pro) c.527A>C (p.His176Pro) c.497A>C (p.His166Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.13283727T= | CA1891546457 | PHYH | c.791A= (p.His264=) c.491A= (p.His164=) c.740A= (p.His247=) c.572A= (p.His191=) c.797A= (p.His266=) c.527A= (p.His176=) c.497A= (p.His166=) | |
| 10 | g.13283728G>A | CA376034121 | PHYH | c.790C>T (p.His264Tyr) c.490C>T (p.His164Tyr) c.739C>T (p.His247Tyr) c.571C>T (p.His191Tyr) c.796C>T (p.His266Tyr) c.526C>T (p.His176Tyr) c.496C>T (p.His166Tyr) | |
| 10 | g.13283728G>C | CA376034120 | PHYH | c.790C>G (p.His264Asp) c.490C>G (p.His164Asp) c.739C>G (p.His247Asp) c.571C>G (p.His191Asp) c.796C>G (p.His266Asp) c.526C>G (p.His176Asp) c.496C>G (p.His166Asp) | |
| 10 | g.13283728G= | CA1891546459 | PHYH | c.790C= (p.His264=) c.490C= (p.His164=) c.739C= (p.His247=) c.571C= (p.His191=) c.796C= (p.His266=) c.526C= (p.His176=) c.496C= (p.His166=) | |
| 10 | g.13283728G>T | CA376034119 | PHYH | c.790C>A (p.His264Asn) c.490C>A (p.His164Asn) c.739C>A (p.His247Asn) c.571C>A (p.His191Asn) c.796C>A (p.His266Asn) c.526C>A (p.His176Asn) c.496C>A (p.His166Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.13283729G>A | CA468236880 | PHYH | c.789C>T (p.Ile263=) c.489C>T (p.Ile163=) c.738C>T (p.Ile246=) c.570C>T (p.Ile190=) c.795C>T (p.Ile265=) c.525C>T (p.Ile175=) c.495C>T (p.Ile165=) | |
| 10 | g.13283729G>C | CA376034122 | PHYH | c.789C>G (p.Ile263Met) c.489C>G (p.Ile163Met) c.738C>G (p.Ile246Met) c.570C>G (p.Ile190Met) c.795C>G (p.Ile265Met) c.525C>G (p.Ile175Met) c.495C>G (p.Ile165Met) | |
| 10 | g.13283729G>T | CA468236877 | PHYH | c.789C>A (p.Ile263=) c.489C>A (p.Ile163=) c.738C>A (p.Ile246=) c.570C>A (p.Ile190=) c.795C>A (p.Ile265=) c.525C>A (p.Ile175=) c.495C>A (p.Ile165=) | |
| 10 | g.13283730A>C | CA376034123 | PHYH | c.788T>G (p.Ile263Ser) c.488T>G (p.Ile163Ser) c.737T>G (p.Ile246Ser) c.569T>G (p.Ile190Ser) c.794T>G (p.Ile265Ser) c.524T>G (p.Ile175Ser) c.494T>G (p.Ile165Ser) | |
| 10 | g.13283730A>G | CA376034124 | PHYH | c.788T>C (p.Ile263Thr) c.488T>C (p.Ile163Thr) c.737T>C (p.Ile246Thr) c.569T>C (p.Ile190Thr) c.794T>C (p.Ile265Thr) c.524T>C (p.Ile175Thr) c.494T>C (p.Ile165Thr) | |
| 10 | g.13283730A>T | CA376034125 | PHYH | c.788T>A (p.Ile263Asn) c.488T>A (p.Ile163Asn) c.737T>A (p.Ile246Asn) c.569T>A (p.Ile190Asn) c.794T>A (p.Ile265Asn) c.524T>A (p.Ile175Asn) c.494T>A (p.Ile165Asn) | |
| 10 | g.13283731T>A | CA376034126 | PHYH | c.787A>T (p.Ile263Phe) c.487A>T (p.Ile163Phe) c.736A>T (p.Ile246Phe) c.568A>T (p.Ile190Phe) c.793A>T (p.Ile265Phe) c.523A>T (p.Ile175Phe) c.493A>T (p.Ile165Phe) | |
| 10 | g.13283731T>C | CA376034127 | PHYH | c.787A>G (p.Ile263Val) c.487A>G (p.Ile163Val) c.736A>G (p.Ile246Val) c.568A>G (p.Ile190Val) c.793A>G (p.Ile265Val) c.523A>G (p.Ile175Val) c.493A>G (p.Ile165Val) | gnomAD v4 |
| 10 | g.13283731T>G | CA376034128 | PHYH | c.787A>C (p.Ile263Leu) c.487A>C (p.Ile163Leu) c.736A>C (p.Ile246Leu) c.568A>C (p.Ile190Leu) c.793A>C (p.Ile265Leu) c.523A>C (p.Ile175Leu) c.493A>C (p.Ile165Leu) | |
| 10 | g.13283732G>A | CA468236888 | PHYH | c.786C>T (p.Leu262=) c.486C>T (p.Leu162=) c.735C>T (p.Leu245=) c.567C>T (p.Leu189=) c.792C>T (p.Leu264=) c.522C>T (p.Leu174=) c.492C>T (p.Leu164=) | |
| 10 | g.13283732G>C | CA468236889 | PHYH | c.786C>G (p.Leu262=) c.486C>G (p.Leu162=) c.735C>G (p.Leu245=) c.567C>G (p.Leu189=) c.792C>G (p.Leu264=) c.522C>G (p.Leu174=) c.492C>G (p.Leu164=) | |
| 10 | g.13283732G>T | CA468236891 | PHYH | c.786C>A (p.Leu262=) c.486C>A (p.Leu162=) c.735C>A (p.Leu245=) c.567C>A (p.Leu189=) c.792C>A (p.Leu264=) c.522C>A (p.Leu174=) c.492C>A (p.Leu164=) | |
| 10 | g.13283733A>C | CA376034129 | PHYH | c.785T>G (p.Leu262Arg) c.485T>G (p.Leu162Arg) c.734T>G (p.Leu245Arg) c.566T>G (p.Leu189Arg) c.791T>G (p.Leu264Arg) c.521T>G (p.Leu174Arg) c.491T>G (p.Leu164Arg) | |
| 10 | g.13283733A>G | CA376034130 | PHYH | c.785T>C (p.Leu262Pro) c.485T>C (p.Leu162Pro) c.734T>C (p.Leu245Pro) c.566T>C (p.Leu189Pro) c.791T>C (p.Leu264Pro) c.521T>C (p.Leu174Pro) c.491T>C (p.Leu164Pro) | ClinVar gnomAD v4 |
| 10 | g.13283733A>T | CA376034131 | PHYH | c.785T>A (p.Leu262His) c.485T>A (p.Leu162His) c.734T>A (p.Leu245His) c.566T>A (p.Leu189His) c.791T>A (p.Leu264His) c.521T>A (p.Leu174His) c.491T>A (p.Leu164His) | |
| 10 | g.13283735_13283739dup | CA645560872 | PHYH | c.781_785dup (p.Ile263CysfsTer?) c.481_485dup (p.Ile163CysfsTer?) c.730_734dup (p.Ile246CysfsTer?) c.562_566dup (p.Ile190CysfsTer?) c.787_791dup (p.Ile265CysfsTer?) c.517_521dup (p.Ile175CysfsTer?) c.487_491dup (p.Ile165CysfsTer?) | COSMIC |
| 10 | g.13283734G>A | CA376034132 | PHYH | c.784C>T (p.Leu262Phe) c.484C>T (p.Leu162Phe) c.733C>T (p.Leu245Phe) c.565C>T (p.Leu189Phe) c.790C>T (p.Leu264Phe) c.520C>T (p.Leu174Phe) c.490C>T (p.Leu164Phe) | |
| 10 | g.13283734G>C | CA376034133 | PHYH | c.784C>G (p.Leu262Val) c.484C>G (p.Leu162Val) c.733C>G (p.Leu245Val) c.565C>G (p.Leu189Val) c.790C>G (p.Leu264Val) c.520C>G (p.Leu174Val) c.490C>G (p.Leu164Val) | |
| 10 | g.13283734G>T | CA376034134 | PHYH | c.784C>A (p.Leu262Ile) c.484C>A (p.Leu162Ile) c.733C>A (p.Leu245Ile) c.565C>A (p.Leu189Ile) c.790C>A (p.Leu264Ile) c.520C>A (p.Leu174Ile) c.490C>A (p.Leu164Ile) | |
| 10 | g.13283735C>A | CA376034135 | PHYH | c.783G>T (p.Leu261Phe) c.483G>T (p.Leu161Phe) c.732G>T (p.Leu244Phe) c.564G>T (p.Leu188Phe) c.789G>T (p.Leu263Phe) c.519G>T (p.Leu173Phe) c.489G>T (p.Leu163Phe) | |
| 10 | g.13283735C>G | CA376034136 | PHYH | c.783G>C (p.Leu261Phe) c.483G>C (p.Leu161Phe) c.732G>C (p.Leu244Phe) c.564G>C (p.Leu188Phe) c.789G>C (p.Leu263Phe) c.519G>C (p.Leu173Phe) c.489G>C (p.Leu163Phe) | |
| 10 | g.13283735C>T | CA468236903 | PHYH | c.783G>A (p.Leu261=) c.483G>A (p.Leu161=) c.732G>A (p.Leu244=) c.564G>A (p.Leu188=) c.789G>A (p.Leu263=) c.519G>A (p.Leu173=) c.489G>A (p.Leu163=) | gnomAD v4 |
| 10 | g.13283736A= | CA1891546461 | PHYH | c.782T= (p.Leu261=) c.482T= (p.Leu161=) c.731T= (p.Leu244=) c.563T= (p.Leu188=) c.788T= (p.Leu263=) c.518T= (p.Leu173=) c.488T= (p.Leu163=) | |
| 10 | g.13283736A>C | CA376034137 | PHYH | c.782T>G (p.Leu261Trp) c.482T>G (p.Leu161Trp) c.731T>G (p.Leu244Trp) c.563T>G (p.Leu188Trp) c.788T>G (p.Leu263Trp) c.518T>G (p.Leu173Trp) c.488T>G (p.Leu163Trp) | |
| 10 | g.13283736A>G | CA376034139 | PHYH | c.782T>C (p.Leu261Ser) c.482T>C (p.Leu161Ser) c.731T>C (p.Leu244Ser) c.563T>C (p.Leu188Ser) c.788T>C (p.Leu263Ser) c.518T>C (p.Leu173Ser) c.488T>C (p.Leu163Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13283736A>T | CA376034138 | PHYH | c.782T>A (p.Leu261Ter) c.482T>A (p.Leu161Ter) c.731T>A (p.Leu244Ter) c.563T>A (p.Leu188Ter) c.788T>A (p.Leu263Ter) c.518T>A (p.Leu173Ter) c.488T>A (p.Leu163Ter) | |
| 10 | g.13283737A= | CA1891546465 | PHYH | c.781T= (p.Leu261=) c.481T= (p.Leu161=) c.730T= (p.Leu244=) c.562T= (p.Leu188=) c.787T= (p.Leu263=) c.517T= (p.Leu173=) c.487T= (p.Leu163=) | |
| 10 | g.13283737A>C | CA376034140 | PHYH | c.781T>G (p.Leu261Val) c.481T>G (p.Leu161Val) c.730T>G (p.Leu244Val) c.562T>G (p.Leu188Val) c.787T>G (p.Leu263Val) c.517T>G (p.Leu173Val) c.487T>G (p.Leu163Val) | |
| 10 | g.13283737A>G | CA468236914 | PHYH | c.781T>C (p.Leu261=) c.481T>C (p.Leu161=) c.730T>C (p.Leu244=) c.562T>C (p.Leu188=) c.787T>C (p.Leu263=) c.517T>C (p.Leu173=) c.487T>C (p.Leu163=) | |
| 10 | g.13283737A>T | CA376034141 | PHYH | c.781T>A (p.Leu261Met) c.481T>A (p.Leu161Met) c.730T>A (p.Leu244Met) c.562T>A (p.Leu188Met) c.787T>A (p.Leu263Met) c.517T>A (p.Leu173Met) c.487T>A (p.Leu163Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13283738A>C | CA468236919 | PHYH | c.780T>G (p.Pro260=) c.480T>G (p.Pro160=) c.729T>G (p.Pro243=) c.561T>G (p.Pro187=) c.786T>G (p.Pro262=) c.516T>G (p.Pro172=) c.486T>G (p.Pro162=) | COSMIC |
| 10 | g.13283738A>G | CA468236920 | PHYH | c.780T>C (p.Pro260=) c.480T>C (p.Pro160=) c.729T>C (p.Pro243=) c.561T>C (p.Pro187=) c.786T>C (p.Pro262=) c.516T>C (p.Pro172=) c.486T>C (p.Pro162=) | dbSNP |
| 10 | g.13283738A>T | CA468236923 | PHYH | c.780T>A (p.Pro260=) c.480T>A (p.Pro160=) c.729T>A (p.Pro243=) c.561T>A (p.Pro187=) c.786T>A (p.Pro262=) c.516T>A (p.Pro172=) c.486T>A (p.Pro162=) | |
| 10 | g.13283739G>A | CA203276257 | PHYH | c.779C>T (p.Pro260Leu) c.479C>T (p.Pro160Leu) c.728C>T (p.Pro243Leu) c.560C>T (p.Pro187Leu) c.785C>T (p.Pro262Leu) c.515C>T (p.Pro172Leu) c.485C>T (p.Pro162Leu) | dbSNP gnomAD v4 |
| 10 | g.13283739G>C | CA376034143 | PHYH | c.779C>G (p.Pro260Arg) c.479C>G (p.Pro160Arg) c.728C>G (p.Pro243Arg) c.560C>G (p.Pro187Arg) c.785C>G (p.Pro262Arg) c.515C>G (p.Pro172Arg) c.485C>G (p.Pro162Arg) | |
| 10 | g.13283739G= | CA1891546471 | PHYH | c.779C= (p.Pro260=) c.479C= (p.Pro160=) c.728C= (p.Pro243=) c.560C= (p.Pro187=) c.785C= (p.Pro262=) c.515C= (p.Pro172=) c.485C= (p.Pro162=) | |
| 10 | g.13283739G>T | CA376034142 | PHYH | c.779C>A (p.Pro260His) c.479C>A (p.Pro160His) c.728C>A (p.Pro243His) c.560C>A (p.Pro187His) c.785C>A (p.Pro262His) c.515C>A (p.Pro172His) c.485C>A (p.Pro162His) | |
| 10 | g.13283740G>A | CA376034144 | PHYH | c.778C>T (p.Pro260Ser) c.478C>T (p.Pro160Ser) c.727C>T (p.Pro243Ser) c.559C>T (p.Pro187Ser) c.784C>T (p.Pro262Ser) c.514C>T (p.Pro172Ser) c.484C>T (p.Pro162Ser) | |
| 10 | g.13283740G>C | CA376034145 | PHYH | c.778C>G (p.Pro260Ala) c.478C>G (p.Pro160Ala) c.727C>G (p.Pro243Ala) c.559C>G (p.Pro187Ala) c.784C>G (p.Pro262Ala) c.514C>G (p.Pro172Ala) c.484C>G (p.Pro162Ala) | |
| 10 | g.13283740G>T | CA376034146 | PHYH | c.778C>A (p.Pro260Thr) c.478C>A (p.Pro160Thr) c.727C>A (p.Pro243Thr) c.559C>A (p.Pro187Thr) c.784C>A (p.Pro262Thr) c.514C>A (p.Pro172Thr) c.484C>A (p.Pro162Thr) | |
| 10 | g.13283741A>C | CA376034147 | PHYH | c.777T>G (p.His259Gln) c.477T>G (p.His159Gln) c.726T>G (p.His242Gln) c.558T>G (p.His186Gln) c.783T>G (p.His261Gln) c.513T>G (p.His171Gln) c.483T>G (p.His161Gln) | |
| 10 | g.13283741A>G | CA468236938 | PHYH | c.777T>C (p.His259=) c.477T>C (p.His159=) c.726T>C (p.His242=) c.558T>C (p.His186=) c.783T>C (p.His261=) c.513T>C (p.His171=) c.483T>C (p.His161=) | gnomAD v4 |
| 10 | g.13283741A>T | CA376034148 | PHYH | c.777T>A (p.His259Gln) c.477T>A (p.His159Gln) c.726T>A (p.His242Gln) c.558T>A (p.His186Gln) c.783T>A (p.His261Gln) c.513T>A (p.His171Gln) c.483T>A (p.His161Gln) | |
| 10 | g.13283742T>A | CA376034151 | PHYH | c.776A>T (p.His259Leu) c.476A>T (p.His159Leu) c.725A>T (p.His242Leu) c.557A>T (p.His186Leu) c.782A>T (p.His261Leu) c.512A>T (p.His171Leu) c.482A>T (p.His161Leu) | |
| 10 | g.13283742T>C | CA376034150 | PHYH | c.776A>G (p.His259Arg) c.476A>G (p.His159Arg) c.725A>G (p.His242Arg) c.557A>G (p.His186Arg) c.782A>G (p.His261Arg) c.512A>G (p.His171Arg) c.482A>G (p.His161Arg) | |
| 10 | g.13283742T>G | CA376034149 | PHYH | c.776A>C (p.His259Pro) c.476A>C (p.His159Pro) c.725A>C (p.His242Pro) c.557A>C (p.His186Pro) c.782A>C (p.His261Pro) c.512A>C (p.His171Pro) c.482A>C (p.His161Pro) | |
| 10 | g.13283743G>A | CA376034152 | PHYH | c.775C>T (p.His259Tyr) c.475C>T (p.His159Tyr) c.724C>T (p.His242Tyr) c.556C>T (p.His186Tyr) c.781C>T (p.His261Tyr) c.511C>T (p.His171Tyr) c.481C>T (p.His161Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13283743G>C | CA376034153 | PHYH | c.775C>G (p.His259Asp) c.475C>G (p.His159Asp) c.724C>G (p.His242Asp) c.556C>G (p.His186Asp) c.781C>G (p.His261Asp) c.511C>G (p.His171Asp) c.481C>G (p.His161Asp) | |
| 10 | g.13283743G= | CA1891546474 | PHYH | c.775C= (p.His259=) c.475C= (p.His159=) c.724C= (p.His242=) c.556C= (p.His186=) c.781C= (p.His261=) c.511C= (p.His171=) c.481C= (p.His161=) | |
| 10 | g.13283743G>T | CA376034154 | PHYH | c.775C>A (p.His259Asn) c.475C>A (p.His159Asn) c.724C>A (p.His242Asn) c.556C>A (p.His186Asn) c.781C>A (p.His261Asn) c.511C>A (p.His171Asn) c.481C>A (p.His161Asn) | |
| 10 | g.13283744G>A | CA203276277 | PHYH | c.774C>T (p.Phe258=) c.474C>T (p.Phe158=) c.723C>T (p.Phe241=) c.555C>T (p.Phe185=) c.780C>T (p.Phe260=) c.510C>T (p.Phe170=) c.480C>T (p.Phe160=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283744G>C | CA376034155 | PHYH | c.774C>G (p.Phe258Leu) c.474C>G (p.Phe158Leu) c.723C>G (p.Phe241Leu) c.555C>G (p.Phe185Leu) c.780C>G (p.Phe260Leu) c.510C>G (p.Phe170Leu) c.480C>G (p.Phe160Leu) | gnomAD v4 |
| 10 | g.13283744G= | CA1891546476 | PHYH | c.774C= (p.Phe258=) c.474C= (p.Phe158=) c.723C= (p.Phe241=) c.555C= (p.Phe185=) c.780C= (p.Phe260=) c.510C= (p.Phe170=) c.480C= (p.Phe160=) | |
| 10 | g.13283744G>T | CA376034156 | PHYH | c.774C>A (p.Phe258Leu) c.474C>A (p.Phe158Leu) c.723C>A (p.Phe241Leu) c.555C>A (p.Phe185Leu) c.780C>A (p.Phe260Leu) c.510C>A (p.Phe170Leu) c.480C>A (p.Phe160Leu) | |
| 10 | g.13283745A>C | CA376034157 | PHYH | c.773T>G (p.Phe258Cys) c.473T>G (p.Phe158Cys) c.722T>G (p.Phe241Cys) c.554T>G (p.Phe185Cys) c.779T>G (p.Phe260Cys) c.509T>G (p.Phe170Cys) c.479T>G (p.Phe160Cys) | |
| 10 | g.13283745A>G | CA376034159 | PHYH | c.773T>C (p.Phe258Ser) c.473T>C (p.Phe158Ser) c.722T>C (p.Phe241Ser) c.554T>C (p.Phe185Ser) c.779T>C (p.Phe260Ser) c.509T>C (p.Phe170Ser) c.479T>C (p.Phe160Ser) | |
| 10 | g.13283745A>T | CA376034158 | PHYH | c.773T>A (p.Phe258Tyr) c.473T>A (p.Phe158Tyr) c.722T>A (p.Phe241Tyr) c.554T>A (p.Phe185Tyr) c.779T>A (p.Phe260Tyr) c.509T>A (p.Phe170Tyr) c.479T>A (p.Phe160Tyr) | |
| 10 | g.13283746A= | CA1891546480 | PHYH | c.772T= (p.Phe258=) c.472T= (p.Phe158=) c.721T= (p.Phe241=) c.553T= (p.Phe185=) c.778T= (p.Phe260=) c.508T= (p.Phe170=) c.478T= (p.Phe160=) | |
| 10 | g.13283746A>C | CA376034160 | PHYH | c.772T>G (p.Phe258Val) c.472T>G (p.Phe158Val) c.721T>G (p.Phe241Val) c.553T>G (p.Phe185Val) c.778T>G (p.Phe260Val) c.508T>G (p.Phe170Val) c.478T>G (p.Phe160Val) | ClinVar dbSNP |
| 10 | g.13283746A>G | CA376034161 | PHYH | c.772T>C (p.Phe258Leu) c.472T>C (p.Phe158Leu) c.721T>C (p.Phe241Leu) c.553T>C (p.Phe185Leu) c.778T>C (p.Phe260Leu) c.508T>C (p.Phe170Leu) c.478T>C (p.Phe160Leu) | |
| 10 | g.13283746A>T | CA376034162 | PHYH | c.772T>A (p.Phe258Ile) c.472T>A (p.Phe158Ile) c.721T>A (p.Phe241Ile) c.553T>A (p.Phe185Ile) c.778T>A (p.Phe260Ile) c.508T>A (p.Phe170Ile) c.478T>A (p.Phe160Ile) | |
| 10 | g.13283747G>A | CA468236952 | PHYH | c.771C>T (p.Phe257=) c.471C>T (p.Phe157=) c.720C>T (p.Phe240=) c.552C>T (p.Phe184=) c.777C>T (p.Phe259=) c.507C>T (p.Phe169=) c.477C>T (p.Phe159=) | |
| 10 | g.13283747G>C | CA376034163 | PHYH | c.771C>G (p.Phe257Leu) c.471C>G (p.Phe157Leu) c.720C>G (p.Phe240Leu) c.552C>G (p.Phe184Leu) c.777C>G (p.Phe259Leu) c.507C>G (p.Phe169Leu) c.477C>G (p.Phe159Leu) | |
| 10 | g.13283747G>T | CA376034164 | PHYH | c.771C>A (p.Phe257Leu) c.471C>A (p.Phe157Leu) c.720C>A (p.Phe240Leu) c.552C>A (p.Phe184Leu) c.777C>A (p.Phe259Leu) c.507C>A (p.Phe169Leu) c.477C>A (p.Phe159Leu) | |
| 10 | g.13283748A= | CA1891546482 | PHYH | c.770T= (p.Phe257=) c.470T= (p.Phe157=) c.719T= (p.Phe240=) c.551T= (p.Phe184=) c.776T= (p.Phe259=) c.506T= (p.Phe169=) c.476T= (p.Phe159=) | |
| 10 | g.13283748A>C | CA376034165 | PHYH | c.770T>G (p.Phe257Cys) c.470T>G (p.Phe157Cys) c.719T>G (p.Phe240Cys) c.551T>G (p.Phe184Cys) c.776T>G (p.Phe259Cys) c.506T>G (p.Phe169Cys) c.476T>G (p.Phe159Cys) | |
| 10 | g.13283748A>G | CA376034166 | PHYH | c.770T>C (p.Phe257Ser) c.470T>C (p.Phe157Ser) c.719T>C (p.Phe240Ser) c.551T>C (p.Phe184Ser) c.776T>C (p.Phe259Ser) c.506T>C (p.Phe169Ser) c.476T>C (p.Phe159Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13283748A>T | CA376034167 | PHYH | c.770T>A (p.Phe257Tyr) c.470T>A (p.Phe157Tyr) c.719T>A (p.Phe240Tyr) c.551T>A (p.Phe184Tyr) c.776T>A (p.Phe259Tyr) c.506T>A (p.Phe169Tyr) c.476T>A (p.Phe159Tyr) | |
| 10 | g.13283749A>C | CA376034168 | PHYH | c.769T>G (p.Phe257Val) c.469T>G (p.Phe157Val) c.718T>G (p.Phe240Val) c.550T>G (p.Phe184Val) c.775T>G (p.Phe259Val) c.505T>G (p.Phe169Val) c.475T>G (p.Phe159Val) | |
| 10 | g.13283749A>G | CA376034169 | PHYH | c.769T>C (p.Phe257Leu) c.469T>C (p.Phe157Leu) c.718T>C (p.Phe240Leu) c.550T>C (p.Phe184Leu) c.775T>C (p.Phe259Leu) c.505T>C (p.Phe169Leu) c.475T>C (p.Phe159Leu) | |
| 10 | g.13283749A>T | CA376034170 | PHYH | c.769T>A (p.Phe257Ile) c.469T>A (p.Phe157Ile) c.718T>A (p.Phe240Ile) c.550T>A (p.Phe184Ile) c.775T>A (p.Phe259Ile) c.505T>A (p.Phe169Ile) c.475T>A (p.Phe159Ile) | |
| 10 | g.13283750A>C | CA468236962 | PHYH | c.768T>G (p.Val256=) c.468T>G (p.Val156=) c.717T>G (p.Val239=) c.549T>G (p.Val183=) c.774T>G (p.Val258=) c.504T>G (p.Val168=) c.474T>G (p.Val158=) | |
| 10 | g.13283750A>G | CA468236960 | PHYH | c.768T>C (p.Val256=) c.468T>C (p.Val156=) c.717T>C (p.Val239=) c.549T>C (p.Val183=) c.774T>C (p.Val258=) c.504T>C (p.Val168=) c.474T>C (p.Val158=) | gnomAD v4 |
| 10 | g.13283750A>T | CA468236959 | PHYH | c.768T>A (p.Val256=) c.468T>A (p.Val156=) c.717T>A (p.Val239=) c.549T>A (p.Val183=) c.774T>A (p.Val258=) c.504T>A (p.Val168=) c.474T>A (p.Val158=) | |
| 10 | g.13283750_13283752delinsAAC | CA1891546485 | PHYH | c.766_768delinsGTT (p.Val256=) c.466_468delinsGTT (p.Val156=) c.715_717delinsGTT (p.Val239=) c.547_549delinsGTT (p.Val183=) c.772_774delinsGTT (p.Val258=) c.502_504delinsGTT (p.Val168=) c.472_474delinsGTT (p.Val158=) | |
| 10 | g.13283751A>C | CA376034171 | PHYH | c.767T>G (p.Val256Gly) c.467T>G (p.Val156Gly) c.716T>G (p.Val239Gly) c.548T>G (p.Val183Gly) c.773T>G (p.Val258Gly) c.503T>G (p.Val168Gly) c.473T>G (p.Val158Gly) | |
| 10 | g.13283751A>G | CA376034172 | PHYH | c.767T>C (p.Val256Ala) c.467T>C (p.Val156Ala) c.716T>C (p.Val239Ala) c.548T>C (p.Val183Ala) c.773T>C (p.Val258Ala) c.503T>C (p.Val168Ala) c.473T>C (p.Val158Ala) | |
| 10 | g.13283751A>T | CA376034173 | PHYH | c.767T>A (p.Val256Asp) c.467T>A (p.Val156Asp) c.716T>A (p.Val239Asp) c.548T>A (p.Val183Asp) c.773T>A (p.Val258Asp) c.503T>A (p.Val168Asp) c.473T>A (p.Val158Asp) | |
| 10 | g.13283752_13283753del | CA276015 | PHYH | c.766_767del (p.Val256PhefsTer14) c.466_467del (p.Val156PhefsTer14) c.715_716del (p.Val239PhefsTer14) c.547_548del (p.Val183PhefsTer14) c.772_773del (p.Val258PhefsTer14) c.502_503del (p.Val168PhefsTer14) c.472_473del (p.Val158PhefsTer14) | ClinVar dbSNP |
| 10 | g.13283752C>A | CA376034174 | PHYH | c.766G>T (p.Val256Phe) c.466G>T (p.Val156Phe) c.715G>T (p.Val239Phe) c.547G>T (p.Val183Phe) c.772G>T (p.Val258Phe) c.502G>T (p.Val168Phe) c.472G>T (p.Val158Phe) | |
| 10 | g.13283752C>G | CA376034175 | PHYH | c.766G>C (p.Val256Leu) c.466G>C (p.Val156Leu) c.715G>C (p.Val239Leu) c.547G>C (p.Val183Leu) c.772G>C (p.Val258Leu) c.502G>C (p.Val168Leu) c.472G>C (p.Val158Leu) | |
| 10 | g.13283752C>T | CA376034176 | PHYH | c.766G>A (p.Val256Ile) c.466G>A (p.Val156Ile) c.715G>A (p.Val239Ile) c.547G>A (p.Val183Ile) c.772G>A (p.Val258Ile) c.502G>A (p.Val168Ile) c.472G>A (p.Val158Ile) | |
| 10 | g.13283753A>C | CA468236970 | PHYH | c.765T>G (p.Thr255=) c.465T>G (p.Thr155=) c.714T>G (p.Thr238=) c.546T>G (p.Thr182=) c.771T>G (p.Thr257=) c.501T>G (p.Thr167=) c.471T>G (p.Thr157=) | |
| 10 | g.13283753A>G | CA468236972 | PHYH | c.765T>C (p.Thr255=) c.465T>C (p.Thr155=) c.714T>C (p.Thr238=) c.546T>C (p.Thr182=) c.771T>C (p.Thr257=) c.501T>C (p.Thr167=) c.471T>C (p.Thr157=) | |
| 10 | g.13283753A>T | CA468236974 | PHYH | c.765T>A (p.Thr255=) c.465T>A (p.Thr155=) c.714T>A (p.Thr238=) c.546T>A (p.Thr182=) c.771T>A (p.Thr257=) c.501T>A (p.Thr167=) c.471T>A (p.Thr157=) | |
| 10 | g.13283754G>A | CA376034177 | PHYH | c.764C>T (p.Thr255Ile) c.464C>T (p.Thr155Ile) c.713C>T (p.Thr238Ile) c.545C>T (p.Thr182Ile) c.770C>T (p.Thr257Ile) c.500C>T (p.Thr167Ile) c.470C>T (p.Thr157Ile) | |
| 10 | g.13283754G>C | CA5412242 | PHYH | c.764C>G (p.Thr255Ser) c.464C>G (p.Thr155Ser) c.713C>G (p.Thr238Ser) c.545C>G (p.Thr182Ser) c.770C>G (p.Thr257Ser) c.500C>G (p.Thr167Ser) c.470C>G (p.Thr157Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283754G= | CA1891546491 | PHYH | c.764C= (p.Thr255=) c.464C= (p.Thr155=) c.713C= (p.Thr238=) c.545C= (p.Thr182=) c.770C= (p.Thr257=) c.500C= (p.Thr167=) c.470C= (p.Thr157=) | |
| 10 | g.13283754G>T | CA376034178 | PHYH | c.764C>A (p.Thr255Asn) c.464C>A (p.Thr155Asn) c.713C>A (p.Thr238Asn) c.545C>A (p.Thr182Asn) c.770C>A (p.Thr257Asn) c.500C>A (p.Thr167Asn) c.470C>A (p.Thr157Asn) | |
| 10 | g.13283755T>A | CA376034179 | PHYH | c.763A>T (p.Thr255Ser) c.463A>T (p.Thr155Ser) c.712A>T (p.Thr238Ser) c.544A>T (p.Thr182Ser) c.769A>T (p.Thr257Ser) c.499A>T (p.Thr167Ser) c.469A>T (p.Thr157Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283755T>C | CA376034180 | PHYH | c.763A>G (p.Thr255Ala) c.463A>G (p.Thr155Ala) c.712A>G (p.Thr238Ala) c.544A>G (p.Thr182Ala) c.769A>G (p.Thr257Ala) c.499A>G (p.Thr167Ala) c.469A>G (p.Thr157Ala) | |
| 10 | g.13283755T>G | CA376034181 | PHYH | c.763A>C (p.Thr255Pro) c.463A>C (p.Thr155Pro) c.712A>C (p.Thr238Pro) c.544A>C (p.Thr182Pro) c.769A>C (p.Thr257Pro) c.499A>C (p.Thr167Pro) c.469A>C (p.Thr157Pro) | |
| 10 | g.13283755T= | CA1891546494 | PHYH | c.763A= (p.Thr255=) c.463A= (p.Thr155=) c.712A= (p.Thr238=) c.544A= (p.Thr182=) c.769A= (p.Thr257=) c.499A= (p.Thr167=) c.469A= (p.Thr157=) | |
| 10 | g.13283756G>A | CA468236981 | PHYH | c.762C>T (p.Asp254=) c.462C>T (p.Asp154=) c.711C>T (p.Asp237=) c.543C>T (p.Asp181=) c.768C>T (p.Asp256=) c.498C>T (p.Asp166=) c.468C>T (p.Asp156=) | gnomAD v4 |
| 10 | g.13283756G>C | CA376034182 | PHYH | c.762C>G (p.Asp254Glu) c.462C>G (p.Asp154Glu) c.711C>G (p.Asp237Glu) c.543C>G (p.Asp181Glu) c.768C>G (p.Asp256Glu) c.498C>G (p.Asp166Glu) c.468C>G (p.Asp156Glu) | |
| 10 | g.13283756G>T | CA376034183 | PHYH | c.762C>A (p.Asp254Glu) c.462C>A (p.Asp154Glu) c.711C>A (p.Asp237Glu) c.543C>A (p.Asp181Glu) c.768C>A (p.Asp256Glu) c.498C>A (p.Asp166Glu) c.468C>A (p.Asp156Glu) | |
| 10 | g.13283757T>A | CA376034184 | PHYH | c.761A>T (p.Asp254Val) c.461A>T (p.Asp154Val) c.710A>T (p.Asp237Val) c.542A>T (p.Asp181Val) c.767A>T (p.Asp256Val) c.497A>T (p.Asp166Val) c.467A>T (p.Asp156Val) | |
| 10 | g.13283757T>C | CA376034186 | PHYH | c.761A>G (p.Asp254Gly) c.461A>G (p.Asp154Gly) c.710A>G (p.Asp237Gly) c.542A>G (p.Asp181Gly) c.767A>G (p.Asp256Gly) c.497A>G (p.Asp166Gly) c.467A>G (p.Asp156Gly) | |
| 10 | g.13283757T>G | CA376034185 | PHYH | c.761A>C (p.Asp254Ala) c.461A>C (p.Asp154Ala) c.710A>C (p.Asp237Ala) c.542A>C (p.Asp181Ala) c.767A>C (p.Asp256Ala) c.497A>C (p.Asp166Ala) c.467A>C (p.Asp156Ala) | gnomAD v4 |
| 10 | g.13283758C>A | CA376034187 | PHYH | c.760G>T (p.Asp254Tyr) c.460G>T (p.Asp154Tyr) c.709G>T (p.Asp237Tyr) c.541G>T (p.Asp181Tyr) c.766G>T (p.Asp256Tyr) c.496G>T (p.Asp166Tyr) c.466G>T (p.Asp156Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.13283758C= | CA1891546503 | PHYH | c.760G= (p.Asp254=) c.460G= (p.Asp154=) c.709G= (p.Asp237=) c.541G= (p.Asp181=) c.766G= (p.Asp256=) c.496G= (p.Asp166=) c.466G= (p.Asp156=) | |
| 10 | g.13283758C>G | CA376034188 | PHYH | c.760G>C (p.Asp254His) c.460G>C (p.Asp154His) c.709G>C (p.Asp237His) c.541G>C (p.Asp181His) c.766G>C (p.Asp256His) c.496G>C (p.Asp166His) c.466G>C (p.Asp156His) | |
| 10 | g.13283758C>T | CA5412243 | PHYH | c.760G>A (p.Asp254Asn) c.460G>A (p.Asp154Asn) c.709G>A (p.Asp237Asn) c.541G>A (p.Asp181Asn) c.766G>A (p.Asp256Asn) c.496G>A (p.Asp166Asn) c.466G>A (p.Asp156Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.13283759G>A | CA5412244 | PHYH | c.759C>T (p.Gly253=) c.459C>T (p.Gly153=) c.708C>T (p.Gly236=) c.540C>T (p.Gly180=) c.765C>T (p.Gly255=) c.495C>T (p.Gly165=) c.465C>T (p.Gly155=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283759G>C | CA468236996 | PHYH | c.759C>G (p.Gly253=) c.459C>G (p.Gly153=) c.708C>G (p.Gly236=) c.540C>G (p.Gly180=) c.765C>G (p.Gly255=) c.495C>G (p.Gly165=) c.465C>G (p.Gly155=) | |
| 10 | g.13283759G= | CA1891546507 | PHYH | c.759C= (p.Gly253=) c.459C= (p.Gly153=) c.708C= (p.Gly236=) c.540C= (p.Gly180=) c.765C= (p.Gly255=) c.495C= (p.Gly165=) c.465C= (p.Gly155=) | |
| 10 | g.13283759G>T | CA468236998 | PHYH | c.759C>A (p.Gly253=) c.459C>A (p.Gly153=) c.708C>A (p.Gly236=) c.540C>A (p.Gly180=) c.765C>A (p.Gly255=) c.495C>A (p.Gly165=) c.465C>A (p.Gly155=) | dbSNP gnomAD v4 |
| 10 | g.13283760C>A | CA376034189 | PHYH | c.758G>T (p.Gly253Val) c.458G>T (p.Gly153Val) c.707G>T (p.Gly236Val) c.539G>T (p.Gly180Val) c.764G>T (p.Gly255Val) c.494G>T (p.Gly165Val) c.464G>T (p.Gly155Val) | |
| 10 | g.13283760C>G | CA376034190 | PHYH | c.758G>C (p.Gly253Ala) c.458G>C (p.Gly153Ala) c.707G>C (p.Gly236Ala) c.539G>C (p.Gly180Ala) c.764G>C (p.Gly255Ala) c.494G>C (p.Gly165Ala) c.464G>C (p.Gly155Ala) | |
| 10 | g.13283760C>T | CA376034191 | PHYH | c.758G>A (p.Gly253Asp) c.458G>A (p.Gly153Asp) c.707G>A (p.Gly236Asp) c.539G>A (p.Gly180Asp) c.764G>A (p.Gly255Asp) c.494G>A (p.Gly165Asp) c.464G>A (p.Gly155Asp) | |
| 10 | g.13283761C>A | CA376034192 | PHYH | c.757G>T (p.Gly253Cys) c.457G>T (p.Gly153Cys) c.706G>T (p.Gly236Cys) c.538G>T (p.Gly180Cys) c.763G>T (p.Gly255Cys) c.493G>T (p.Gly165Cys) c.463G>T (p.Gly155Cys) | |
| 10 | g.13283761C>G | CA376034193 | PHYH | c.757G>C (p.Gly253Arg) c.457G>C (p.Gly153Arg) c.706G>C (p.Gly236Arg) c.538G>C (p.Gly180Arg) c.763G>C (p.Gly255Arg) c.493G>C (p.Gly165Arg) c.463G>C (p.Gly155Arg) | |
| 10 | g.13283761C>T | CA376034194 | PHYH | c.757G>A (p.Gly253Ser) c.457G>A (p.Gly153Ser) c.706G>A (p.Gly236Ser) c.538G>A (p.Gly180Ser) c.763G>A (p.Gly255Ser) c.493G>A (p.Gly165Ser) c.463G>A (p.Gly155Ser) | gnomAD v4 |
| 10 | g.13283762C>A | CA376034196 | PHYH | c.756G>T (p.Lys252Asn) c.456G>T (p.Lys152Asn) c.705G>T (p.Lys235Asn) c.537G>T (p.Lys179Asn) c.762G>T (p.Lys254Asn) c.492G>T (p.Lys164Asn) c.462G>T (p.Lys154Asn) | |
| 10 | g.13283762C>G | CA376034195 | PHYH | c.756G>C (p.Lys252Asn) c.456G>C (p.Lys152Asn) c.705G>C (p.Lys235Asn) c.537G>C (p.Lys179Asn) c.762G>C (p.Lys254Asn) c.492G>C (p.Lys164Asn) c.462G>C (p.Lys154Asn) | |
| 10 | g.13283762C>T | CA468237002 | PHYH | c.756G>A (p.Lys252=) c.456G>A (p.Lys152=) c.705G>A (p.Lys235=) c.537G>A (p.Lys179=) c.762G>A (p.Lys254=) c.492G>A (p.Lys164=) c.462G>A (p.Lys154=) | gnomAD v4 |
| 10 | g.13283763T>A | CA376034197 | PHYH | c.755A>T (p.Lys252Met) c.455A>T (p.Lys152Met) c.704A>T (p.Lys235Met) c.536A>T (p.Lys179Met) c.761A>T (p.Lys254Met) c.491A>T (p.Lys164Met) c.461A>T (p.Lys154Met) | |
| 10 | g.13283763T>C | CA5412245 | PHYH | c.755A>G (p.Lys252Arg) c.455A>G (p.Lys152Arg) c.704A>G (p.Lys235Arg) c.536A>G (p.Lys179Arg) c.761A>G (p.Lys254Arg) c.491A>G (p.Lys164Arg) c.461A>G (p.Lys154Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283763T>G | CA376034198 | PHYH | c.755A>C (p.Lys252Thr) c.455A>C (p.Lys152Thr) c.704A>C (p.Lys235Thr) c.536A>C (p.Lys179Thr) c.761A>C (p.Lys254Thr) c.491A>C (p.Lys164Thr) c.461A>C (p.Lys154Thr) | |
| 10 | g.13283763T= | CA1891546511 | PHYH | c.755A= (p.Lys252=) c.455A= (p.Lys152=) c.704A= (p.Lys235=) c.536A= (p.Lys179=) c.761A= (p.Lys254=) c.491A= (p.Lys164=) c.461A= (p.Lys154=) | |
| 10 | g.13283764T>A | CA376034199 | PHYH | c.754A>T (p.Lys252Ter) c.454A>T (p.Lys152Ter) c.703A>T (p.Lys235Ter) c.535A>T (p.Lys179Ter) c.760A>T (p.Lys254Ter) c.490A>T (p.Lys164Ter) c.460A>T (p.Lys154Ter) | |
| 10 | g.13283764T>C | CA376034200 | PHYH | c.754A>G (p.Lys252Glu) c.454A>G (p.Lys152Glu) c.703A>G (p.Lys235Glu) c.535A>G (p.Lys179Glu) c.760A>G (p.Lys254Glu) c.490A>G (p.Lys164Glu) c.460A>G (p.Lys154Glu) | gnomAD v4 |
| 10 | g.13283764T>G | CA376034201 | PHYH | c.754A>C (p.Lys252Gln) c.454A>C (p.Lys152Gln) c.703A>C (p.Lys235Gln) c.535A>C (p.Lys179Gln) c.760A>C (p.Lys254Gln) c.490A>C (p.Lys164Gln) c.460A>C (p.Lys154Gln) | |
| 10 | g.13283765C>A | CA376034203 | PHYH | c.753G>T (p.Glu251Asp) c.453G>T (p.Glu151Asp) c.702G>T (p.Glu234Asp) c.534G>T (p.Glu178Asp) c.759G>T (p.Glu253Asp) c.489G>T (p.Glu163Asp) c.459G>T (p.Glu153Asp) | |
| 10 | g.13283765C= | CA1891546513 | PHYH | c.753G= (p.Glu251=) c.453G= (p.Glu151=) c.702G= (p.Glu234=) c.534G= (p.Glu178=) c.759G= (p.Glu253=) c.489G= (p.Glu163=) c.459G= (p.Glu153=) | |
| 10 | g.13283765C>G | CA376034202 | PHYH | c.753G>C (p.Glu251Asp) c.453G>C (p.Glu151Asp) c.702G>C (p.Glu234Asp) c.534G>C (p.Glu178Asp) c.759G>C (p.Glu253Asp) c.489G>C (p.Glu163Asp) c.459G>C (p.Glu153Asp) | |
| 10 | g.13283765C>T | CA203276320 | PHYH | c.753G>A (p.Glu251=) c.453G>A (p.Glu151=) c.702G>A (p.Glu234=) c.534G>A (p.Glu178=) c.759G>A (p.Glu253=) c.489G>A (p.Glu163=) c.459G>A (p.Glu153=) | dbSNP |
| 10 | g.13283766T>A | CA376034204 | PHYH | c.752A>T (p.Glu251Val) c.452A>T (p.Glu151Val) c.701A>T (p.Glu234Val) c.533A>T (p.Glu178Val) c.758A>T (p.Glu253Val) c.488A>T (p.Glu163Val) c.458A>T (p.Glu153Val) | |
| 10 | g.13283766T>C | CA376034205 | PHYH | c.752A>G (p.Glu251Gly) c.452A>G (p.Glu151Gly) c.701A>G (p.Glu234Gly) c.533A>G (p.Glu178Gly) c.758A>G (p.Glu253Gly) c.488A>G (p.Glu163Gly) c.458A>G (p.Glu153Gly) | |
| 10 | g.13283766T>G | CA376034207 | PHYH | c.752A>C (p.Glu251Ala) c.452A>C (p.Glu151Ala) c.701A>C (p.Glu234Ala) c.533A>C (p.Glu178Ala) c.758A>C (p.Glu253Ala) c.488A>C (p.Glu163Ala) c.458A>C (p.Glu153Ala) | |
| 10 | g.13283767C>A | CA376034209 | PHYH | c.751G>T (p.Glu251Ter) c.451G>T (p.Glu151Ter) c.700G>T (p.Glu234Ter) c.532G>T (p.Glu178Ter) c.757G>T (p.Glu253Ter) c.487G>T (p.Glu163Ter) c.457G>T (p.Glu153Ter) | |
| 10 | g.13283767C>G | CA376034211 | PHYH | c.751G>C (p.Glu251Gln) c.451G>C (p.Glu151Gln) c.700G>C (p.Glu234Gln) c.532G>C (p.Glu178Gln) c.757G>C (p.Glu253Gln) c.487G>C (p.Glu163Gln) c.457G>C (p.Glu153Gln) | |
| 10 | g.13283767C>T | CA376034212 | PHYH | c.751G>A (p.Glu251Lys) c.451G>A (p.Glu151Lys) c.700G>A (p.Glu234Lys) c.532G>A (p.Glu178Lys) c.757G>A (p.Glu253Lys) c.487G>A (p.Glu163Lys) c.457G>A (p.Glu153Lys) | |
| 10 | g.13283768C>A | CA376034215 | PHYH | c.750G>T (p.Met250Ile) c.450G>T (p.Met150Ile) c.699G>T (p.Met233Ile) c.531G>T (p.Met177Ile) c.756G>T (p.Met252Ile) c.486G>T (p.Met162Ile) c.456G>T (p.Met152Ile) | |
| 10 | g.13283768C>G | CA376034219 | PHYH | c.750G>C (p.Met250Ile) c.450G>C (p.Met150Ile) c.699G>C (p.Met233Ile) c.531G>C (p.Met177Ile) c.756G>C (p.Met252Ile) c.486G>C (p.Met162Ile) c.456G>C (p.Met152Ile) | |
| 10 | g.13283768C>T | CA376034217 | PHYH | c.750G>A (p.Met250Ile) c.450G>A (p.Met150Ile) c.699G>A (p.Met233Ile) c.531G>A (p.Met177Ile) c.756G>A (p.Met252Ile) c.486G>A (p.Met162Ile) c.456G>A (p.Met152Ile) | |
| 10 | g.13283769A>C | CA376034221 | PHYH | c.749T>G (p.Met250Arg) c.449T>G (p.Met150Arg) c.698T>G (p.Met233Arg) c.530T>G (p.Met177Arg) c.755T>G (p.Met252Arg) c.485T>G (p.Met162Arg) c.455T>G (p.Met152Arg) | |
| 10 | g.13283769A>G | CA376034223 | PHYH | c.749T>C (p.Met250Thr) c.449T>C (p.Met150Thr) c.698T>C (p.Met233Thr) c.530T>C (p.Met177Thr) c.755T>C (p.Met252Thr) c.485T>C (p.Met162Thr) c.455T>C (p.Met152Thr) | |
| 10 | g.13283769A>T | CA376034225 | PHYH | c.749T>A (p.Met250Lys) c.449T>A (p.Met150Lys) c.698T>A (p.Met233Lys) c.530T>A (p.Met177Lys) c.755T>A (p.Met252Lys) c.485T>A (p.Met162Lys) c.455T>A (p.Met152Lys) | |
| 10 | g.13283770T>A | CA376034227 | PHYH | c.748A>T (p.Met250Leu) c.448A>T (p.Met150Leu) c.697A>T (p.Met233Leu) c.529A>T (p.Met177Leu) c.754A>T (p.Met252Leu) c.484A>T (p.Met162Leu) c.454A>T (p.Met152Leu) | |
| 10 | g.13283770T>C | CA376034229 | PHYH | c.748A>G (p.Met250Val) c.448A>G (p.Met150Val) c.697A>G (p.Met233Val) c.529A>G (p.Met177Val) c.754A>G (p.Met252Val) c.484A>G (p.Met162Val) c.454A>G (p.Met152Val) | |
| 10 | g.13283770T>G | CA376034231 | PHYH | c.748A>C (p.Met250Leu) c.448A>C (p.Met150Leu) c.697A>C (p.Met233Leu) c.529A>C (p.Met177Leu) c.754A>C (p.Met252Leu) c.484A>C (p.Met162Leu) c.454A>C (p.Met152Leu) | |
| 10 | g.13283771C>A | CA468237019 | PHYH | c.747G>T (p.Val249=) c.447G>T (p.Val149=) c.696G>T (p.Val232=) c.528G>T (p.Val176=) c.753G>T (p.Val251=) c.483G>T (p.Val161=) c.453G>T (p.Val151=) | |
| 10 | g.13283771C>G | CA468237021 | PHYH | c.747G>C (p.Val249=) c.447G>C (p.Val149=) c.696G>C (p.Val232=) c.528G>C (p.Val176=) c.753G>C (p.Val251=) c.483G>C (p.Val161=) c.453G>C (p.Val151=) | |
| 10 | g.13283771C>T | CA468237017 | PHYH | c.747G>A (p.Val249=) c.447G>A (p.Val149=) c.696G>A (p.Val232=) c.528G>A (p.Val176=) c.753G>A (p.Val251=) c.483G>A (p.Val161=) c.453G>A (p.Val151=) | |
| 10 | g.13283772A= | CA1891546516 | PHYH | c.746T= (p.Val249=) c.446T= (p.Val149=) c.695T= (p.Val232=) c.527T= (p.Val176=) c.752T= (p.Val251=) c.482T= (p.Val161=) c.452T= (p.Val151=) | |
| 10 | g.13283772A>C | CA376034233 | PHYH | c.746T>G (p.Val249Gly) c.446T>G (p.Val149Gly) c.695T>G (p.Val232Gly) c.527T>G (p.Val176Gly) c.752T>G (p.Val251Gly) c.482T>G (p.Val161Gly) c.452T>G (p.Val151Gly) | |
| 10 | g.13283772A>G | CA5412246 | PHYH | c.746T>C (p.Val249Ala) c.446T>C (p.Val149Ala) c.695T>C (p.Val232Ala) c.527T>C (p.Val176Ala) c.752T>C (p.Val251Ala) c.482T>C (p.Val161Ala) c.452T>C (p.Val151Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283772A>T | CA376034236 | PHYH | c.746T>A (p.Val249Glu) c.446T>A (p.Val149Glu) c.695T>A (p.Val232Glu) c.527T>A (p.Val176Glu) c.752T>A (p.Val251Glu) c.482T>A (p.Val161Glu) c.452T>A (p.Val151Glu) | |
| 10 | g.13283773C>A | CA376034239 | PHYH | c.745G>T (p.Val249Leu) c.445G>T (p.Val149Leu) c.694G>T (p.Val232Leu) c.526G>T (p.Val176Leu) c.751G>T (p.Val251Leu) c.481G>T (p.Val161Leu) c.451G>T (p.Val151Leu) | dbSNP |
| 10 | g.13283773C= | CA1891546520 | PHYH | c.745G= (p.Val249=) c.445G= (p.Val149=) c.694G= (p.Val232=) c.526G= (p.Val176=) c.751G= (p.Val251=) c.481G= (p.Val161=) c.451G= (p.Val151=) | |
| 10 | g.13283773C>G | CA376034241 | PHYH | c.745G>C (p.Val249Leu) c.445G>C (p.Val149Leu) c.694G>C (p.Val232Leu) c.526G>C (p.Val176Leu) c.751G>C (p.Val251Leu) c.481G>C (p.Val161Leu) c.451G>C (p.Val151Leu) | |
| 10 | g.13283773C>T | CA376034242 | PHYH | c.745G>A (p.Val249Met) c.445G>A (p.Val149Met) c.694G>A (p.Val232Met) c.526G>A (p.Val176Met) c.751G>A (p.Val251Met) c.481G>A (p.Val161Met) c.451G>A (p.Val151Met) | |
| 10 | g.13283774C>A | CA468237029 | PHYH | c.744G>T (p.Leu248=) c.444G>T (p.Leu148=) c.693G>T (p.Leu231=) c.525G>T (p.Leu175=) c.750G>T (p.Leu250=) c.480G>T (p.Leu160=) c.450G>T (p.Leu150=) | |
| 10 | g.13283774C>G | CA468237030 | PHYH | c.744G>C (p.Leu248=) c.444G>C (p.Leu148=) c.693G>C (p.Leu231=) c.525G>C (p.Leu175=) c.750G>C (p.Leu250=) c.480G>C (p.Leu160=) c.450G>C (p.Leu150=) | |
| 10 | g.13283774C>T | CA468237031 | PHYH | c.744G>A (p.Leu248=) c.444G>A (p.Leu148=) c.693G>A (p.Leu231=) c.525G>A (p.Leu175=) c.750G>A (p.Leu250=) c.480G>A (p.Leu160=) c.450G>A (p.Leu150=) | ClinVar dbSNP |
| 10 | g.13283775A= | CA1891546522 | PHYH | c.743T= (p.Leu248=) c.443T= (p.Leu148=) c.692T= (p.Leu231=) c.524T= (p.Leu175=) c.749T= (p.Leu250=) c.479T= (p.Leu160=) c.449T= (p.Leu150=) | |
| 10 | g.13283775A>C | CA376034245 | PHYH | c.743T>G (p.Leu248Arg) c.443T>G (p.Leu148Arg) c.692T>G (p.Leu231Arg) c.524T>G (p.Leu175Arg) c.749T>G (p.Leu250Arg) c.479T>G (p.Leu160Arg) c.449T>G (p.Leu150Arg) | |
| 10 | g.13283775A>G | CA376034249 | PHYH | c.743T>C (p.Leu248Pro) c.443T>C (p.Leu148Pro) c.692T>C (p.Leu231Pro) c.524T>C (p.Leu175Pro) c.749T>C (p.Leu250Pro) c.479T>C (p.Leu160Pro) c.449T>C (p.Leu150Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.13283775A>T | CA376034247 | PHYH | c.743T>A (p.Leu248Gln) c.443T>A (p.Leu148Gln) c.692T>A (p.Leu231Gln) c.524T>A (p.Leu175Gln) c.749T>A (p.Leu250Gln) c.479T>A (p.Leu160Gln) c.449T>A (p.Leu150Gln) | |
| 10 | g.13283776G>A | CA468237035 | PHYH | c.742C>T (p.Leu248=) c.442C>T (p.Leu148=) c.691C>T (p.Leu231=) c.523C>T (p.Leu175=) c.748C>T (p.Leu250=) c.478C>T (p.Leu160=) c.448C>T (p.Leu150=) | |
| 10 | g.13283776G>C | CA376034252 | PHYH | c.742C>G (p.Leu248Val) c.442C>G (p.Leu148Val) c.691C>G (p.Leu231Val) c.523C>G (p.Leu175Val) c.748C>G (p.Leu250Val) c.478C>G (p.Leu160Val) c.448C>G (p.Leu150Val) | |
| 10 | g.13283776G>T | CA376034253 | PHYH | c.742C>A (p.Leu248Met) c.442C>A (p.Leu148Met) c.691C>A (p.Leu231Met) c.523C>A (p.Leu175Met) c.748C>A (p.Leu250Met) c.478C>A (p.Leu160Met) c.448C>A (p.Leu150Met) | |
| 10 | g.13283777G>A | CA468237036 | PHYH | c.741C>T (p.His247=) c.441C>T (p.His147=) c.690C>T (p.His230=) c.522C>T (p.His174=) c.747C>T (p.His249=) c.477C>T (p.His159=) c.447C>T (p.His149=) | gnomAD v4 |
| 10 | g.13283777G>C | CA376034256 | PHYH | c.741C>G (p.His247Gln) c.441C>G (p.His147Gln) c.690C>G (p.His230Gln) c.522C>G (p.His174Gln) c.747C>G (p.His249Gln) c.477C>G (p.His159Gln) c.447C>G (p.His149Gln) | |
| 10 | g.13283777G>T | CA376034258 | PHYH | c.741C>A (p.His247Gln) c.441C>A (p.His147Gln) c.690C>A (p.His230Gln) c.522C>A (p.His174Gln) c.747C>A (p.His249Gln) c.477C>A (p.His159Gln) c.447C>A (p.His149Gln) | COSMIC |
| 10 | g.13283778T>A | CA376034260 | PHYH | c.740A>T (p.His247Leu) c.440A>T (p.His147Leu) c.689A>T (p.His230Leu) c.521A>T (p.His174Leu) c.746A>T (p.His249Leu) c.476A>T (p.His159Leu) c.446A>T (p.His149Leu) | |
| 10 | g.13283778T>C | CA203276323 | PHYH | c.740A>G (p.His247Arg) c.440A>G (p.His147Arg) c.689A>G (p.His230Arg) c.521A>G (p.His174Arg) c.746A>G (p.His249Arg) c.476A>G (p.His159Arg) c.446A>G (p.His149Arg) | dbSNP gnomAD v4 |
| 10 | g.13283778T>G | CA376034263 | PHYH | c.740A>C (p.His247Pro) c.440A>C (p.His147Pro) c.689A>C (p.His230Pro) c.521A>C (p.His174Pro) c.746A>C (p.His249Pro) c.476A>C (p.His159Pro) c.446A>C (p.His149Pro) | |
| 10 | g.13283778T= | CA1891546525 | PHYH | c.740A= (p.His247=) c.440A= (p.His147=) c.689A= (p.His230=) c.521A= (p.His174=) c.746A= (p.His249=) c.476A= (p.His159=) c.446A= (p.His149=) | |
| 10 | g.13283779G>A | CA376034266 | PHYH | c.739C>T (p.His247Tyr) c.439C>T (p.His147Tyr) c.688C>T (p.His230Tyr) c.520C>T (p.His174Tyr) c.745C>T (p.His249Tyr) c.475C>T (p.His159Tyr) c.445C>T (p.His149Tyr) | ClinVar dbSNP gnomAD v4 |
| 10 | g.13283779G>C | CA376034267 | PHYH | c.739C>G (p.His247Asp) c.439C>G (p.His147Asp) c.688C>G (p.His230Asp) c.520C>G (p.His174Asp) c.745C>G (p.His249Asp) c.475C>G (p.His159Asp) c.445C>G (p.His149Asp) | |
| 10 | g.13283779G= | CA1891546531 | PHYH | c.739C= (p.His247=) c.439C= (p.His147=) c.688C= (p.His230=) c.520C= (p.His174=) c.745C= (p.His249=) c.475C= (p.His159=) c.445C= (p.His149=) | |
| 10 | g.13283779G>T | CA376034269 | PHYH | c.739C>A (p.His247Asn) c.439C>A (p.His147Asn) c.688C>A (p.His230Asn) c.520C>A (p.His174Asn) c.745C>A (p.His249Asn) c.475C>A (p.His159Asn) c.445C>A (p.His149Asn) | |
| 10 | g.13283781_13283788del | CA2580081340 | PHYH | c.732_739del (p.Arg245ProfsTer23) c.432_439del (p.Arg145ProfsTer23) c.681_688del (p.Arg228ProfsTer23) c.513_520del (p.Arg172ProfsTer23) c.738_745del (p.Arg247ProfsTer23) c.468_475del (p.Arg157ProfsTer23) c.438_445del (p.Arg147ProfsTer23) | ClinVar |
| 10 | g.13283780C>A | CA468237045 | PHYH | c.738G>T (p.Val246=) c.438G>T (p.Val146=) c.687G>T (p.Val229=) c.519G>T (p.Val173=) c.744G>T (p.Val248=) c.474G>T (p.Val158=) c.444G>T (p.Val148=) | |
| 10 | g.13283780C>G | CA468237052 | PHYH | c.738G>C (p.Val246=) c.438G>C (p.Val146=) c.687G>C (p.Val229=) c.519G>C (p.Val173=) c.744G>C (p.Val248=) c.474G>C (p.Val158=) c.444G>C (p.Val148=) | |
| 10 | g.13283780C>T | CA468237053 | PHYH | c.738G>A (p.Val246=) c.438G>A (p.Val146=) c.687G>A (p.Val229=) c.519G>A (p.Val173=) c.744G>A (p.Val248=) c.474G>A (p.Val158=) c.444G>A (p.Val148=) | |
| 10 | g.13283781A= | CA1891546535 | PHYH | c.737T= (p.Val246=) c.437T= (p.Val146=) c.686T= (p.Val229=) c.518T= (p.Val173=) c.743T= (p.Val248=) c.473T= (p.Val158=) c.443T= (p.Val148=) | |
| 10 | g.13283781A>C | CA376034271 | PHYH | c.737T>G (p.Val246Gly) c.437T>G (p.Val146Gly) c.686T>G (p.Val229Gly) c.518T>G (p.Val173Gly) c.743T>G (p.Val248Gly) c.473T>G (p.Val158Gly) c.443T>G (p.Val148Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.13283781A>G | CA376034273 | PHYH | c.737T>C (p.Val246Ala) c.437T>C (p.Val146Ala) c.686T>C (p.Val229Ala) c.518T>C (p.Val173Ala) c.743T>C (p.Val248Ala) c.473T>C (p.Val158Ala) c.443T>C (p.Val148Ala) | |
| 10 | g.13283781A>T | CA376034275 | PHYH | c.737T>A (p.Val246Glu) c.437T>A (p.Val146Glu) c.686T>A (p.Val229Glu) c.518T>A (p.Val173Glu) c.743T>A (p.Val248Glu) c.473T>A (p.Val158Glu) c.443T>A (p.Val148Glu) | |
| 10 | g.13283782C>A | CA376034278 | PHYH | c.736G>T (p.Val246Leu) c.436G>T (p.Val146Leu) c.685G>T (p.Val229Leu) c.517G>T (p.Val173Leu) c.742G>T (p.Val248Leu) c.472G>T (p.Val158Leu) c.442G>T (p.Val148Leu) | gnomAD v4 |
| 10 | g.13283782C= | CA1891546538 | PHYH | c.736G= (p.Val246=) c.436G= (p.Val146=) c.685G= (p.Val229=) c.517G= (p.Val173=) c.742G= (p.Val248=) c.472G= (p.Val158=) c.442G= (p.Val148=) | |
| 10 | g.13283782C>G | CA376034282 | PHYH | c.736G>C (p.Val246Leu) c.436G>C (p.Val146Leu) c.685G>C (p.Val229Leu) c.517G>C (p.Val173Leu) c.742G>C (p.Val248Leu) c.472G>C (p.Val158Leu) c.442G>C (p.Val148Leu) | dbSNP |
| 10 | g.13283782C>T | CA376034280 | PHYH | c.736G>A (p.Val246Met) c.436G>A (p.Val146Met) c.685G>A (p.Val229Met) c.517G>A (p.Val173Met) c.742G>A (p.Val248Met) c.472G>A (p.Val158Met) c.442G>A (p.Val148Met) | ClinVar dbSNP |
| 10 | g.13283784del | CA2574492071 | PHYH | c.736del (p.Val246CysfsTer4) c.436del (p.Val146CysfsTer4) c.685del (p.Val229CysfsTer4) c.517del (p.Val173CysfsTer4) c.742del (p.Val248CysfsTer4) c.472del (p.Val158CysfsTer4) c.442del (p.Val148CysfsTer4) | |
| 10 | g.13283783C>A | CA468237063 | PHYH | c.735G>T (p.Arg245=) c.435G>T (p.Arg145=) c.684G>T (p.Arg228=) c.516G>T (p.Arg172=) c.741G>T (p.Arg247=) c.471G>T (p.Arg157=) c.441G>T (p.Arg147=) | COSMIC |
| 10 | g.13283783C= | CA1891546540 | PHYH | c.735G= (p.Arg245=) c.435G= (p.Arg145=) c.684G= (p.Arg228=) c.516G= (p.Arg172=) c.741G= (p.Arg247=) c.471G= (p.Arg157=) c.441G= (p.Arg147=) | |
| 10 | g.13283783C>G | CA468237065 | PHYH | c.735G>C (p.Arg245=) c.435G>C (p.Arg145=) c.684G>C (p.Arg228=) c.516G>C (p.Arg172=) c.741G>C (p.Arg247=) c.471G>C (p.Arg157=) c.441G>C (p.Arg147=) | |
| 10 | g.13283783C>T | CA468237067 | PHYH | c.735G>A (p.Arg245=) c.435G>A (p.Arg145=) c.684G>A (p.Arg228=) c.516G>A (p.Arg172=) c.741G>A (p.Arg247=) c.471G>A (p.Arg157=) c.441G>A (p.Arg147=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.13283784C>A | CA376034284 | PHYH | c.734G>T (p.Arg245Leu) c.434G>T (p.Arg145Leu) c.683G>T (p.Arg228Leu) c.515G>T (p.Arg172Leu) c.740G>T (p.Arg247Leu) c.470G>T (p.Arg157Leu) c.440G>T (p.Arg147Leu) | |
| 10 | g.13283784C= | CA1891546543 | PHYH | c.734G= (p.Arg245=) c.434G= (p.Arg145=) c.683G= (p.Arg228=) c.515G= (p.Arg172=) c.740G= (p.Arg247=) c.470G= (p.Arg157=) c.440G= (p.Arg147=) | |
| 10 | g.13283784C>G | CA376034286 | PHYH | c.734G>C (p.Arg245Pro) c.434G>C (p.Arg145Pro) c.683G>C (p.Arg228Pro) c.515G>C (p.Arg172Pro) c.740G>C (p.Arg247Pro) c.470G>C (p.Arg157Pro) c.440G>C (p.Arg147Pro) | |
| 10 | g.13283784C>T | CA203488 | PHYH | c.734G>A (p.Arg245Gln) c.434G>A (p.Arg145Gln) c.683G>A (p.Arg228Gln) c.515G>A (p.Arg172Gln) c.740G>A (p.Arg247Gln) c.470G>A (p.Arg157Gln) c.440G>A (p.Arg147Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283784_13283785delinsTA | CA2739265289 | PHYH | c.733_734delinsTA (p.Arg245Ter) c.433_434delinsTA (p.Arg145Ter) c.682_683delinsTA (p.Arg228Ter) c.514_515delinsTA (p.Arg172Ter) c.739_740delinsTA (p.Arg247Ter) c.469_470delinsTA (p.Arg157Ter) c.439_440delinsTA (p.Arg147Ter) | ClinVar |
| 10 | g.13283785G>A | CA5412247 | PHYH | c.733C>T (p.Arg245Trp) c.433C>T (p.Arg145Trp) c.682C>T (p.Arg228Trp) c.514C>T (p.Arg172Trp) c.739C>T (p.Arg247Trp) c.469C>T (p.Arg157Trp) c.439C>T (p.Arg147Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283785G>C | CA376034289 | PHYH | c.733C>G (p.Arg245Gly) c.433C>G (p.Arg145Gly) c.682C>G (p.Arg228Gly) c.514C>G (p.Arg172Gly) c.739C>G (p.Arg247Gly) c.469C>G (p.Arg157Gly) c.439C>G (p.Arg147Gly) | |
| 10 | g.13283785G= | CA1891546551 | PHYH | c.733C= (p.Arg245=) c.433C= (p.Arg145=) c.682C= (p.Arg228=) c.514C= (p.Arg172=) c.739C= (p.Arg247=) c.469C= (p.Arg157=) c.439C= (p.Arg147=) | |
| 10 | g.13283785G>T | CA468237073 | PHYH | c.733C>A (p.Arg245=) c.433C>A (p.Arg145=) c.682C>A (p.Arg228=) c.514C>A (p.Arg172=) c.739C>A (p.Arg247=) c.469C>A (p.Arg157=) c.439C>A (p.Arg147=) | |
| 10 | g.13283786G>A | CA468237077 | PHYH | c.732C>T (p.Ala244=) c.432C>T (p.Ala144=) c.681C>T (p.Ala227=) c.513C>T (p.Ala171=) c.738C>T (p.Ala246=) c.468C>T (p.Ala156=) c.438C>T (p.Ala146=) | gnomAD v4 |
| 10 | g.13283786G>C | CA468237079 | PHYH | c.732C>G (p.Ala244=) c.432C>G (p.Ala144=) c.681C>G (p.Ala227=) c.513C>G (p.Ala171=) c.738C>G (p.Ala246=) c.468C>G (p.Ala156=) c.438C>G (p.Ala146=) | |
| 10 | g.13283786G>T | CA468237081 | PHYH | c.732C>A (p.Ala244=) c.432C>A (p.Ala144=) c.681C>A (p.Ala227=) c.513C>A (p.Ala171=) c.738C>A (p.Ala246=) c.468C>A (p.Ala156=) c.438C>A (p.Ala146=) | |
| 10 | g.13283787G>A | CA376034291 | PHYH | c.731C>T (p.Ala244Val) c.431C>T (p.Ala144Val) c.680C>T (p.Ala227Val) c.512C>T (p.Ala171Val) c.737C>T (p.Ala246Val) c.467C>T (p.Ala156Val) c.437C>T (p.Ala146Val) | gnomAD v4 |
| 10 | g.13283787G>C | CA5412248 | PHYH | c.731C>G (p.Ala244Gly) c.431C>G (p.Ala144Gly) c.680C>G (p.Ala227Gly) c.512C>G (p.Ala171Gly) c.737C>G (p.Ala246Gly) c.467C>G (p.Ala156Gly) c.437C>G (p.Ala146Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283787G= | CA1891546554 | PHYH | c.731C= (p.Ala244=) c.431C= (p.Ala144=) c.680C= (p.Ala227=) c.512C= (p.Ala171=) c.737C= (p.Ala246=) c.467C= (p.Ala156=) c.437C= (p.Ala146=) | |
| 10 | g.13283787G>T | CA376034294 | PHYH | c.731C>A (p.Ala244Asp) c.431C>A (p.Ala144Asp) c.680C>A (p.Ala227Asp) c.512C>A (p.Ala171Asp) c.737C>A (p.Ala246Asp) c.467C>A (p.Ala156Asp) c.437C>A (p.Ala146Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.13283788C>A | CA376034296 | PHYH | c.730G>T (p.Ala244Ser) c.430G>T (p.Ala144Ser) c.679G>T (p.Ala227Ser) c.511G>T (p.Ala171Ser) c.736G>T (p.Ala246Ser) c.466G>T (p.Ala156Ser) c.436G>T (p.Ala146Ser) | |
| 10 | g.13283788C>G | CA376034298 | PHYH | c.730G>C (p.Ala244Pro) c.430G>C (p.Ala144Pro) c.679G>C (p.Ala227Pro) c.511G>C (p.Ala171Pro) c.736G>C (p.Ala246Pro) c.466G>C (p.Ala156Pro) c.436G>C (p.Ala146Pro) | |
| 10 | g.13283788C>T | CA376034300 | PHYH | c.730G>A (p.Ala244Thr) c.430G>A (p.Ala144Thr) c.679G>A (p.Ala227Thr) c.511G>A (p.Ala171Thr) c.736G>A (p.Ala246Thr) c.466G>A (p.Ala156Thr) c.436G>A (p.Ala146Thr) | |
| 10 | g.13283789C>A | CA376034304 | PHYH | c.729G>T (p.Lys243Asn) c.429G>T (p.Lys143Asn) c.678G>T (p.Lys226Asn) c.510G>T (p.Lys170Asn) c.735G>T (p.Lys245Asn) c.465G>T (p.Lys155Asn) c.435G>T (p.Lys145Asn) | |
| 10 | g.13283789C>G | CA376034302 | PHYH | c.729G>C (p.Lys243Asn) c.429G>C (p.Lys143Asn) c.678G>C (p.Lys226Asn) c.510G>C (p.Lys170Asn) c.735G>C (p.Lys245Asn) c.465G>C (p.Lys155Asn) c.435G>C (p.Lys145Asn) | |
| 10 | g.13283789C>T | CA468237092 | PHYH | c.729G>A (p.Lys243=) c.429G>A (p.Lys143=) c.678G>A (p.Lys226=) c.510G>A (p.Lys170=) c.735G>A (p.Lys245=) c.465G>A (p.Lys155=) c.435G>A (p.Lys145=) | |
| 10 | g.13283790T>A | CA376034306 | PHYH | c.728A>T (p.Lys243Met) c.428A>T (p.Lys143Met) c.677A>T (p.Lys226Met) c.509A>T (p.Lys170Met) c.734A>T (p.Lys245Met) c.464A>T (p.Lys155Met) c.434A>T (p.Lys145Met) | |
| 10 | g.13283790T>C | CA376034308 | PHYH | c.728A>G (p.Lys243Arg) c.428A>G (p.Lys143Arg) c.677A>G (p.Lys226Arg) c.509A>G (p.Lys170Arg) c.734A>G (p.Lys245Arg) c.464A>G (p.Lys155Arg) c.434A>G (p.Lys145Arg) | |
| 10 | g.13283790T>G | CA376034310 | PHYH | c.728A>C (p.Lys243Thr) c.428A>C (p.Lys143Thr) c.677A>C (p.Lys226Thr) c.509A>C (p.Lys170Thr) c.734A>C (p.Lys245Thr) c.464A>C (p.Lys155Thr) c.434A>C (p.Lys145Thr) | |
| 10 | g.13283791T>A | CA376034311 | PHYH | c.727A>T (p.Lys243Ter) c.427A>T (p.Lys143Ter) c.676A>T (p.Lys226Ter) c.508A>T (p.Lys170Ter) c.733A>T (p.Lys245Ter) c.463A>T (p.Lys155Ter) c.433A>T (p.Lys145Ter) | |
| 10 | g.13283791T>C | CA376034314 | PHYH | c.727A>G (p.Lys243Glu) c.427A>G (p.Lys143Glu) c.676A>G (p.Lys226Glu) c.508A>G (p.Lys170Glu) c.733A>G (p.Lys245Glu) c.463A>G (p.Lys155Glu) c.433A>G (p.Lys145Glu) | |
| 10 | g.13283791T>G | CA376034315 | PHYH | c.727A>C (p.Lys243Gln) c.427A>C (p.Lys143Gln) c.676A>C (p.Lys226Gln) c.508A>C (p.Lys170Gln) c.733A>C (p.Lys245Gln) c.463A>C (p.Lys155Gln) c.433A>C (p.Lys145Gln) | |
| 10 | g.13283792G>A | CA468237099 | PHYH | c.726C>T (p.Asn242=) c.426C>T (p.Asn142=) c.675C>T (p.Asn225=) c.507C>T (p.Asn169=) c.732C>T (p.Asn244=) c.462C>T (p.Asn154=) c.432C>T (p.Asn144=) | |
| 10 | g.13283792G>C | CA376034318 | PHYH | c.726C>G (p.Asn242Lys) c.426C>G (p.Asn142Lys) c.675C>G (p.Asn225Lys) c.507C>G (p.Asn169Lys) c.732C>G (p.Asn244Lys) c.462C>G (p.Asn154Lys) c.432C>G (p.Asn144Lys) | |
| 10 | g.13283792G>T | CA376034319 | PHYH | c.726C>A (p.Asn242Lys) c.426C>A (p.Asn142Lys) c.675C>A (p.Asn225Lys) c.507C>A (p.Asn169Lys) c.732C>A (p.Asn244Lys) c.462C>A (p.Asn154Lys) c.432C>A (p.Asn144Lys) | |
| 10 | g.13283793T>A | CA376034321 | PHYH | c.725A>T (p.Asn242Ile) c.425A>T (p.Asn142Ile) c.674A>T (p.Asn225Ile) c.506A>T (p.Asn169Ile) c.731A>T (p.Asn244Ile) c.461A>T (p.Asn154Ile) c.431A>T (p.Asn144Ile) | |
| 10 | g.13283793T>C | CA376034323 | PHYH | c.725A>G (p.Asn242Ser) c.425A>G (p.Asn142Ser) c.674A>G (p.Asn225Ser) c.506A>G (p.Asn169Ser) c.731A>G (p.Asn244Ser) c.461A>G (p.Asn154Ser) c.431A>G (p.Asn144Ser) | gnomAD v4 |
| 10 | g.13283793T>G | CA376034325 | PHYH | c.725A>C (p.Asn242Thr) c.425A>C (p.Asn142Thr) c.674A>C (p.Asn225Thr) c.506A>C (p.Asn169Thr) c.731A>C (p.Asn244Thr) c.461A>C (p.Asn154Thr) c.431A>C (p.Asn144Thr) | |
| 10 | g.13283796del | CA2721019232 | PHYH | c.725del (p.Asn242ThrfsTer8) c.425del (p.Asn142ThrfsTer8) c.674del (p.Asn225ThrfsTer8) c.506del (p.Asn169ThrfsTer8) c.731del (p.Asn244ThrfsTer8) c.461del (p.Asn154ThrfsTer8) c.431del (p.Asn144ThrfsTer8) | dbSNP |
| 10 | g.13283794T>A | CA376034327 | PHYH | c.724A>T (p.Asn242Tyr) c.424A>T (p.Asn142Tyr) c.673A>T (p.Asn225Tyr) c.505A>T (p.Asn169Tyr) c.730A>T (p.Asn244Tyr) c.460A>T (p.Asn154Tyr) c.430A>T (p.Asn144Tyr) | |
| 10 | g.13283794T>C | CA376034329 | PHYH | c.724A>G (p.Asn242Asp) c.424A>G (p.Asn142Asp) c.673A>G (p.Asn225Asp) c.505A>G (p.Asn169Asp) c.730A>G (p.Asn244Asp) c.460A>G (p.Asn154Asp) c.430A>G (p.Asn144Asp) | gnomAD v4 |
| 10 | g.13283794T>G | CA376034331 | PHYH | c.724A>C (p.Asn242His) c.424A>C (p.Asn142His) c.673A>C (p.Asn225His) c.505A>C (p.Asn169His) c.730A>C (p.Asn244His) c.460A>C (p.Asn154His) c.430A>C (p.Asn144His) | |
| 10 | g.13283795T>A | CA376034336 | PHYH | c.723A>T (p.Glu241Asp) c.423A>T (p.Glu141Asp) c.672A>T (p.Glu224Asp) c.504A>T (p.Glu168Asp) c.729A>T (p.Glu243Asp) c.459A>T (p.Glu153Asp) c.429A>T (p.Glu143Asp) | |
| 10 | g.13283795T>C | CA468237107 | PHYH | c.723A>G (p.Glu241=) c.423A>G (p.Glu141=) c.672A>G (p.Glu224=) c.504A>G (p.Glu168=) c.729A>G (p.Glu243=) c.459A>G (p.Glu153=) c.429A>G (p.Glu143=) | |
| 10 | g.13283795T>G | CA376034333 | PHYH | c.723A>C (p.Glu241Asp) c.423A>C (p.Glu141Asp) c.672A>C (p.Glu224Asp) c.504A>C (p.Glu168Asp) c.729A>C (p.Glu243Asp) c.459A>C (p.Glu153Asp) c.429A>C (p.Glu143Asp) |