Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |