| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.13283694C>A | CA376034045 | PHYH | c.824G>T (p.Arg275Leu) c.524G>T (p.Arg175Leu) c.773G>T (p.Arg258Leu) c.605G>T (p.Arg202Leu) c.830G>T (p.Arg277Leu) c.560G>T (p.Arg187Leu) c.530G>T (p.Arg177Leu) | |
| 10 | g.13283694C= | CA1891546398 | PHYH | c.824G= (p.Arg275=) c.524G= (p.Arg175=) c.773G= (p.Arg258=) c.605G= (p.Arg202=) c.830G= (p.Arg277=) c.560G= (p.Arg187=) c.530G= (p.Arg177=) | |
| 10 | g.13283694C>G | CA376034046 | PHYH | c.824G>C (p.Arg275Pro) c.524G>C (p.Arg175Pro) c.773G>C (p.Arg258Pro) c.605G>C (p.Arg202Pro) c.830G>C (p.Arg277Pro) c.560G>C (p.Arg187Pro) c.530G>C (p.Arg177Pro) | |
| 10 | g.13283694C>T | CA118908 | PHYH | c.824G>A (p.Arg275Gln) c.524G>A (p.Arg175Gln) c.773G>A (p.Arg258Gln) c.605G>A (p.Arg202Gln) c.830G>A (p.Arg277Gln) c.560G>A (p.Arg187Gln) c.530G>A (p.Arg177Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 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) | |
| 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) |