| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.52212729_52212731del | CA2586787407 | PPP2R1A | c.667_669del (p.Arg223del) c.10_12del (p.Arg4del) n.491_493del c.589_591del (p.Arg197del) n.700_702del c.523_525del (p.Arg175del) c.547_549del (p.Arg183del) n.238_240del n.741_743del | gnomAD v4 |
| 19 | g.52212726C>A | CA508826408 | PPP2R1A | c.664C>A (p.Arg222=) c.7C>A (p.Arg3=) n.488C>A c.586C>A (p.Arg196=) n.697C>A c.520C>A (p.Arg174=) c.544C>A (p.Arg182=) n.235C>A n.738C>A | |
| 19 | g.52212726C= | CA2341739287 | PPP2R1A | c.664C= (p.Arg222=) c.7C= (p.Arg3=) n.488C= c.586C= (p.Arg196=) n.697C= c.520C= (p.Arg174=) c.544C= (p.Arg182=) n.235C= n.738C= | |
| 19 | g.52212726C>G | CA407183558 | PPP2R1A | c.664C>G (p.Arg222Gly) c.7C>G (p.Arg3Gly) n.488C>G c.586C>G (p.Arg196Gly) n.697C>G c.520C>G (p.Arg174Gly) c.544C>G (p.Arg182Gly) n.235C>G n.738C>G | dbSNP |
| 19 | g.52212726C>T | CA199662 | PPP2R1A | c.664C>T (p.Arg222Trp) c.7C>T (p.Arg3Trp) n.488C>T c.586C>T (p.Arg196Trp) n.697C>T c.520C>T (p.Arg174Trp) c.544C>T (p.Arg182Trp) n.235C>T n.738C>T | ClinVar dbSNP COSMIC |
| 19 | g.52212727G>A | CA407183562 | PPP2R1A | c.665G>A (p.Arg222Gln) c.8G>A (p.Arg3Gln) n.489G>A c.587G>A (p.Arg196Gln) n.698G>A c.521G>A (p.Arg174Gln) c.545G>A (p.Arg182Gln) n.236G>A n.739G>A | dbSNP gnomAD v4 |
| 19 | g.52212727G>C | CA407183563 | PPP2R1A | c.665G>C (p.Arg222Pro) c.8G>C (p.Arg3Pro) n.489G>C c.587G>C (p.Arg196Pro) n.698G>C c.521G>C (p.Arg174Pro) c.545G>C (p.Arg182Pro) n.236G>C n.739G>C | dbSNP |
| 19 | g.52212727G>T | CA407183565 | PPP2R1A | c.665G>T (p.Arg222Leu) c.8G>T (p.Arg3Leu) n.489G>T c.587G>T (p.Arg196Leu) n.698G>T c.521G>T (p.Arg174Leu) c.545G>T (p.Arg182Leu) n.236G>T n.739G>T | dbSNP |
| 19 | g.52212728G>A | CA9621367 | PPP2R1A | c.666G>A (p.Arg222=) c.9G>A (p.Arg3=) n.490G>A c.588G>A (p.Arg196=) n.699G>A c.522G>A (p.Arg174=) c.546G>A (p.Arg182=) n.237G>A n.740G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.52212728G>C | CA508826410 | PPP2R1A | c.666G>C (p.Arg222=) c.9G>C (p.Arg3=) n.490G>C c.588G>C (p.Arg196=) n.699G>C c.522G>C (p.Arg174=) c.546G>C (p.Arg182=) n.237G>C n.740G>C | dbSNP |
| 19 | g.52212728G= | CA2341739288 | PPP2R1A | c.666G= (p.Arg222=) c.9G= (p.Arg3=) n.490G= c.588G= (p.Arg196=) n.699G= c.522G= (p.Arg174=) c.546G= (p.Arg182=) n.237G= n.740G= | |
| 19 | g.52212728G>T | CA508826409 | PPP2R1A | c.666G>T (p.Arg222=) c.9G>T (p.Arg3=) n.490G>T c.588G>T (p.Arg196=) n.699G>T c.522G>T (p.Arg174=) c.546G>T (p.Arg182=) n.237G>T n.740G>T | dbSNP COSMIC |
| 19 | g.52212729C>A | CA508826411 | PPP2R1A | c.667C>A (p.Arg223=) c.10C>A (p.Arg4=) n.491C>A c.589C>A (p.Arg197=) n.700C>A c.523C>A (p.Arg175=) c.547C>A (p.Arg183=) n.238C>A n.741C>A | |
| 19 | g.52212729C= | CA2341739289 | PPP2R1A | c.667C= (p.Arg223=) c.10C= (p.Arg4=) n.491C= c.589C= (p.Arg197=) n.700C= c.523C= (p.Arg175=) c.547C= (p.Arg183=) n.238C= n.741C= | |
| 19 | g.52212729C>G | CA16602939 | PPP2R1A | c.667C>G (p.Arg223Gly) c.10C>G (p.Arg4Gly) n.491C>G c.589C>G (p.Arg197Gly) n.700C>G c.523C>G (p.Arg175Gly) c.547C>G (p.Arg183Gly) n.238C>G n.741C>G | ClinVar dbSNP |
| 19 | g.52212729C>T | CA16602937 | PPP2R1A | c.667C>T (p.Arg223Trp) c.10C>T (p.Arg4Trp) n.491C>T c.589C>T (p.Arg197Trp) n.700C>T c.523C>T (p.Arg175Trp) c.547C>T (p.Arg183Trp) n.238C>T n.741C>T | ClinVar dbSNP COSMIC |
| 19 | g.52212730G>A | CA16602938 | PPP2R1A | c.668G>A (p.Arg223Gln) c.11G>A (p.Arg4Gln) n.492G>A c.590G>A (p.Arg197Gln) n.701G>A c.524G>A (p.Arg175Gln) c.548G>A (p.Arg183Gln) n.239G>A n.742G>A | ClinVar dbSNP COSMIC |
| 19 | g.52212730G>C | CA407183567 | PPP2R1A | c.668G>C (p.Arg223Pro) c.11G>C (p.Arg4Pro) n.492G>C c.590G>C (p.Arg197Pro) n.701G>C c.524G>C (p.Arg175Pro) c.548G>C (p.Arg183Pro) n.239G>C n.742G>C | ClinVar dbSNP COSMIC |
| 19 | g.52212730G= | CA2341739290 | PPP2R1A | c.668G= (p.Arg223=) c.11G= (p.Arg4=) n.492G= c.590G= (p.Arg197=) n.701G= c.524G= (p.Arg175=) c.548G= (p.Arg183=) n.239G= n.742G= | |
| 19 | g.52212730G>T | CA407183566 | PPP2R1A | c.668G>T (p.Arg223Leu) c.11G>T (p.Arg4Leu) n.492G>T c.590G>T (p.Arg197Leu) n.701G>T c.524G>T (p.Arg175Leu) c.548G>T (p.Arg183Leu) n.239G>T n.742G>T | dbSNP |
| 19 | g.52212731G>A | CA508826412 | PPP2R1A | c.669G>A (p.Arg223=) c.12G>A (p.Arg4=) n.493G>A c.591G>A (p.Arg197=) n.702G>A c.525G>A (p.Arg175=) c.549G>A (p.Arg183=) n.240G>A n.743G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.52212731G>C | CA508826413 | PPP2R1A | c.669G>C (p.Arg223=) c.12G>C (p.Arg4=) n.493G>C c.591G>C (p.Arg197=) n.702G>C c.525G>C (p.Arg175=) c.549G>C (p.Arg183=) n.240G>C n.743G>C | dbSNP |
| 19 | g.52212731G>T | CA508826414 | PPP2R1A | c.669G>T (p.Arg223=) c.12G>T (p.Arg4=) n.493G>T c.591G>T (p.Arg197=) n.702G>T c.525G>T (p.Arg175=) c.549G>T (p.Arg183=) n.240G>T n.743G>T | dbSNP |
| 19 | g.52212732G>A | CA407183572 | PPP2R1A | c.670G>A (p.Ala224Thr) c.13G>A (p.Ala5Thr) n.494G>A c.592G>A (p.Ala198Thr) n.703G>A c.526G>A (p.Ala176Thr) c.550G>A (p.Ala184Thr) n.241G>A n.744G>A | dbSNP |
| 19 | g.52212732G>C | CA407183574 | PPP2R1A | c.670G>C (p.Ala224Pro) c.13G>C (p.Ala5Pro) n.494G>C c.592G>C (p.Ala198Pro) n.703G>C c.526G>C (p.Ala176Pro) c.550G>C (p.Ala184Pro) n.241G>C n.744G>C | dbSNP |
| 19 | g.52212732G>T | CA407183576 | PPP2R1A | c.670G>T (p.Ala224Ser) c.13G>T (p.Ala5Ser) n.494G>T c.592G>T (p.Ala198Ser) n.703G>T c.526G>T (p.Ala176Ser) c.550G>T (p.Ala184Ser) n.241G>T n.744G>T | dbSNP |
| 19 | g.52212733C>A | CA407183580 | PPP2R1A | c.671C>A (p.Ala224Asp) c.14C>A (p.Ala5Asp) n.495C>A c.593C>A (p.Ala198Asp) n.704C>A c.527C>A (p.Ala176Asp) c.551C>A (p.Ala184Asp) n.242C>A n.745C>A | dbSNP |
| 19 | g.52212733C= | CA2341739291 | PPP2R1A | c.671C= (p.Ala224=) c.14C= (p.Ala5=) n.495C= c.593C= (p.Ala198=) n.704C= c.527C= (p.Ala176=) c.551C= (p.Ala184=) n.242C= n.745C= | |
| 19 | g.52212733C>G | CA407183581 | PPP2R1A | c.671C>G (p.Ala224Gly) c.14C>G (p.Ala5Gly) n.495C>G c.593C>G (p.Ala198Gly) n.704C>G c.527C>G (p.Ala176Gly) c.551C>G (p.Ala184Gly) n.242C>G n.745C>G | dbSNP |
| 19 | g.52212733C>T | CA407183583 | PPP2R1A | c.671C>T (p.Ala224Val) c.14C>T (p.Ala5Val) n.495C>T c.593C>T (p.Ala198Val) n.704C>T c.527C>T (p.Ala176Val) c.551C>T (p.Ala184Val) n.242C>T n.745C>T | dbSNP gnomAD v4 COSMIC |
| 19 | g.52212734C>A | CA508826415 | PPP2R1A | c.672C>A (p.Ala224=) c.15C>A (p.Ala5=) n.496C>A c.594C>A (p.Ala198=) n.705C>A c.528C>A (p.Ala176=) c.552C>A (p.Ala184=) n.243C>A n.746C>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.52212734C= | CA2341739292 | PPP2R1A | c.672C= (p.Ala224=) c.15C= (p.Ala5=) n.496C= c.594C= (p.Ala198=) n.705C= c.528C= (p.Ala176=) c.552C= (p.Ala184=) n.243C= n.746C= | |
| 19 | g.52212734C>G | CA508826416 | PPP2R1A | c.672C>G (p.Ala224=) c.15C>G (p.Ala5=) n.496C>G c.594C>G (p.Ala198=) n.705C>G c.528C>G (p.Ala176=) c.552C>G (p.Ala184=) n.243C>G n.746C>G | |
| 19 | g.52212734C>T | CA9621368 | PPP2R1A | c.672C>T (p.Ala224=) c.15C>T (p.Ala5=) n.496C>T c.594C>T (p.Ala198=) n.705C>T c.528C>T (p.Ala176=) c.552C>T (p.Ala184=) n.243C>T n.746C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.52212735_52212736del | CA2576874198 | PPP2R1A | c.673_674del (p.Ala225SerfsTer19) c.16_17del (p.Ala6SerfsTer19) n.497_498del c.595_596del (p.Ala199SerfsTer19) n.706_707del c.529_530del (p.Ala177SerfsTer19) c.553_554del (p.Ala185SerfsTer19) n.244_245del n.747_748del | |
| 19 | g.52212735G>A | CA407183587 | PPP2R1A | c.673G>A (p.Ala225Thr) c.16G>A (p.Ala6Thr) n.497G>A c.595G>A (p.Ala199Thr) n.706G>A c.529G>A (p.Ala177Thr) c.553G>A (p.Ala185Thr) n.244G>A n.747G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.52212735G>C | CA407183590 | PPP2R1A | c.673G>C (p.Ala225Pro) c.16G>C (p.Ala6Pro) n.497G>C c.595G>C (p.Ala199Pro) n.706G>C c.529G>C (p.Ala177Pro) c.553G>C (p.Ala185Pro) n.244G>C n.747G>C | dbSNP |
| 19 | g.52212735G= | CA2341739293 | PPP2R1A | c.673G= (p.Ala225=) c.16G= (p.Ala6=) n.497G= c.595G= (p.Ala199=) n.706G= c.529G= (p.Ala177=) c.553G= (p.Ala185=) n.244G= n.747G= | |
| 19 | g.52212735G>T | CA407183592 | PPP2R1A | c.673G>T (p.Ala225Ser) c.16G>T (p.Ala6Ser) n.497G>T c.595G>T (p.Ala199Ser) n.706G>T c.529G>T (p.Ala177Ser) c.553G>T (p.Ala185Ser) n.244G>T n.747G>T | ClinVar dbSNP |
| 19 | g.52212736C>A | CA407183594 | PPP2R1A | c.674C>A (p.Ala225Glu) c.17C>A (p.Ala6Glu) n.498C>A c.596C>A (p.Ala199Glu) n.707C>A c.530C>A (p.Ala177Glu) c.554C>A (p.Ala185Glu) n.245C>A n.748C>A | |
| 19 | g.52212736C>G | CA407183596 | PPP2R1A | c.674C>G (p.Ala225Gly) c.17C>G (p.Ala6Gly) n.498C>G c.596C>G (p.Ala199Gly) n.707C>G c.530C>G (p.Ala177Gly) c.554C>G (p.Ala185Gly) n.245C>G n.748C>G | dbSNP |
| 19 | g.52212736C>T | CA407183599 | PPP2R1A | c.674C>T (p.Ala225Val) c.17C>T (p.Ala6Val) n.498C>T c.596C>T (p.Ala199Val) n.707C>T c.530C>T (p.Ala177Val) c.554C>T (p.Ala185Val) n.245C>T n.748C>T | dbSNP |
| 19 | g.52212737A= | CA2341739294 | PPP2R1A | c.675A= (p.Ala225=) c.18A= (p.Ala6=) n.499A= c.597A= (p.Ala199=) n.708A= c.531A= (p.Ala177=) c.555A= (p.Ala185=) n.246A= n.749A= | |
| 19 | g.52212737A>C | CA508826417 | PPP2R1A | c.675A>C (p.Ala225=) c.18A>C (p.Ala6=) n.499A>C c.597A>C (p.Ala199=) n.708A>C c.531A>C (p.Ala177=) c.555A>C (p.Ala185=) n.246A>C n.749A>C | dbSNP |
| 19 | g.52212737A>G | CA508826418 | PPP2R1A | c.675A>G (p.Ala225=) c.18A>G (p.Ala6=) n.499A>G c.597A>G (p.Ala199=) n.708A>G c.531A>G (p.Ala177=) c.555A>G (p.Ala185=) n.246A>G n.749A>G | dbSNP gnomAD v4 |
| 19 | g.52212737A>T | CA508826419 | PPP2R1A | c.675A>T (p.Ala225=) c.18A>T (p.Ala6=) n.499A>T c.597A>T (p.Ala199=) n.708A>T c.531A>T (p.Ala177=) c.555A>T (p.Ala185=) n.246A>T n.749A>T | dbSNP |
| 19 | g.52212738G>A | CA407183609 | PPP2R1A | c.676G>A (p.Ala226Thr) c.19G>A (p.Ala7Thr) n.500G>A c.598G>A (p.Ala200Thr) n.709G>A c.532G>A (p.Ala178Thr) c.556G>A (p.Ala186Thr) n.247G>A n.750G>A | dbSNP |
| 19 | g.52212738G>C | CA407183612 | PPP2R1A | c.676G>C (p.Ala226Pro) c.19G>C (p.Ala7Pro) n.500G>C c.598G>C (p.Ala200Pro) n.709G>C c.532G>C (p.Ala178Pro) c.556G>C (p.Ala186Pro) n.247G>C n.750G>C | dbSNP |
| 19 | g.52212738G>T | CA407183606 | PPP2R1A | c.676G>T (p.Ala226Ser) c.19G>T (p.Ala7Ser) n.500G>T c.598G>T (p.Ala200Ser) n.709G>T c.532G>T (p.Ala178Ser) c.556G>T (p.Ala186Ser) n.247G>T n.750G>T | dbSNP |
| 19 | g.52212739C>A | CA407183616 | PPP2R1A | c.677C>A (p.Ala226Asp) c.20C>A (p.Ala7Asp) n.501C>A c.599C>A (p.Ala200Asp) n.710C>A c.533C>A (p.Ala178Asp) c.557C>A (p.Ala186Asp) n.248C>A n.751C>A | dbSNP |
| 19 | g.52212739C>G | CA407183614 | PPP2R1A | c.677C>G (p.Ala226Gly) c.20C>G (p.Ala7Gly) n.501C>G c.599C>G (p.Ala200Gly) n.710C>G c.533C>G (p.Ala178Gly) c.557C>G (p.Ala186Gly) n.248C>G n.751C>G | dbSNP |
| 19 | g.52212739C>T | CA407183619 | PPP2R1A | c.677C>T (p.Ala226Val) c.20C>T (p.Ala7Val) n.501C>T c.599C>T (p.Ala200Val) n.710C>T c.533C>T (p.Ala178Val) c.557C>T (p.Ala186Val) n.248C>T n.751C>T | dbSNP |
| 19 | g.52212740C>A | CA508826420 | PPP2R1A | c.678C>A (p.Ala226=) c.21C>A (p.Ala7=) n.502C>A c.600C>A (p.Ala200=) n.711C>A c.534C>A (p.Ala178=) c.558C>A (p.Ala186=) n.249C>A n.752C>A | dbSNP gnomAD v4 |
| 19 | g.52212740C>G | CA508826421 | PPP2R1A | c.678C>G (p.Ala226=) c.21C>G (p.Ala7=) n.502C>G c.600C>G (p.Ala200=) n.711C>G c.534C>G (p.Ala178=) c.558C>G (p.Ala186=) n.249C>G n.752C>G | dbSNP |
| 19 | g.52212740C>T | CA508826422 | PPP2R1A | c.678C>T (p.Ala226=) c.21C>T (p.Ala7=) n.502C>T c.600C>T (p.Ala200=) n.711C>T c.534C>T (p.Ala178=) c.558C>T (p.Ala186=) n.249C>T n.752C>T | dbSNP |
| 19 | g.52212741T>A | CA407183620 | PPP2R1A | c.679T>A (p.Ser227Thr) c.22T>A (p.Ser8Thr) n.503T>A c.601T>A (p.Ser201Thr) n.712T>A c.535T>A (p.Ser179Thr) c.559T>A (p.Ser187Thr) n.250T>A n.753T>A | |
| 19 | g.52212741T>C | CA407183623 | PPP2R1A | c.679T>C (p.Ser227Pro) c.22T>C (p.Ser8Pro) n.503T>C c.601T>C (p.Ser201Pro) n.712T>C c.535T>C (p.Ser179Pro) c.559T>C (p.Ser187Pro) n.250T>C n.753T>C | dbSNP |
| 19 | g.52212741T>G | CA407183625 | PPP2R1A | c.679T>G (p.Ser227Ala) c.22T>G (p.Ser8Ala) n.503T>G c.601T>G (p.Ser201Ala) n.712T>G c.535T>G (p.Ser179Ala) c.559T>G (p.Ser187Ala) n.250T>G n.753T>G | |
| 19 | g.52212742C>A | CA407183628 | PPP2R1A | c.680C>A (p.Ser227Tyr) c.23C>A (p.Ser8Tyr) n.504C>A c.602C>A (p.Ser201Tyr) n.713C>A c.536C>A (p.Ser179Tyr) c.560C>A (p.Ser187Tyr) n.251C>A n.754C>A | |
| 19 | g.52212742C>G | CA407183630 | PPP2R1A | c.680C>G (p.Ser227Cys) c.23C>G (p.Ser8Cys) n.504C>G c.602C>G (p.Ser201Cys) n.713C>G c.536C>G (p.Ser179Cys) c.560C>G (p.Ser187Cys) n.251C>G n.754C>G | |
| 19 | g.52212742C>T | CA407183634 | PPP2R1A | c.680C>T (p.Ser227Phe) c.23C>T (p.Ser8Phe) n.504C>T c.602C>T (p.Ser201Phe) n.713C>T c.536C>T (p.Ser179Phe) c.560C>T (p.Ser187Phe) n.251C>T n.754C>T | COSMIC |
| 19 | g.52212743C>A | CA508826423 | PPP2R1A | c.681C>A (p.Ser227=) c.24C>A (p.Ser8=) n.505C>A c.603C>A (p.Ser201=) n.714C>A c.537C>A (p.Ser179=) c.561C>A (p.Ser187=) n.252C>A n.755C>A | dbSNP |
| 19 | g.52212743C>G | CA508826424 | PPP2R1A | c.681C>G (p.Ser227=) c.24C>G (p.Ser8=) n.505C>G c.603C>G (p.Ser201=) n.714C>G c.537C>G (p.Ser179=) c.561C>G (p.Ser187=) n.252C>G n.755C>G | dbSNP |
| 19 | g.52212743C>T | CA508826425 | PPP2R1A | c.681C>T (p.Ser227=) c.24C>T (p.Ser8=) n.505C>T c.603C>T (p.Ser201=) n.714C>T c.537C>T (p.Ser179=) c.561C>T (p.Ser187=) n.252C>T n.755C>T | dbSNP |
| 19 | g.52212744A>C | CA407183636 | PPP2R1A | c.682A>C (p.Lys228Gln) c.25A>C (p.Lys9Gln) n.506A>C c.604A>C (p.Lys202Gln) n.715A>C c.538A>C (p.Lys180Gln) c.562A>C (p.Lys188Gln) n.253A>C n.756A>C | ClinVar |
| 19 | g.52212744A>G | CA407183639 | PPP2R1A | c.682A>G (p.Lys228Glu) c.25A>G (p.Lys9Glu) n.506A>G c.604A>G (p.Lys202Glu) n.715A>G c.538A>G (p.Lys180Glu) c.562A>G (p.Lys188Glu) n.253A>G n.756A>G | |
| 19 | g.52212744A>T | CA407183640 | PPP2R1A | c.682A>T (p.Lys228Ter) c.25A>T (p.Lys9Ter) n.506A>T c.604A>T (p.Lys202Ter) n.715A>T c.538A>T (p.Lys180Ter) c.562A>T (p.Lys188Ter) n.253A>T n.756A>T | dbSNP |
| 19 | g.52212745A>C | CA407183643 | PPP2R1A | c.683A>C (p.Lys228Thr) c.26A>C (p.Lys9Thr) n.507A>C c.605A>C (p.Lys202Thr) n.716A>C c.539A>C (p.Lys180Thr) c.563A>C (p.Lys188Thr) n.254A>C n.757A>C | |
| 19 | g.52212745A>G | CA407183644 | PPP2R1A | c.683A>G (p.Lys228Arg) c.26A>G (p.Lys9Arg) n.507A>G c.605A>G (p.Lys202Arg) n.716A>G c.539A>G (p.Lys180Arg) c.563A>G (p.Lys188Arg) n.254A>G n.757A>G | dbSNP |
| 19 | g.52212745A>T | CA407183645 | PPP2R1A | c.683A>T (p.Lys228Met) c.26A>T (p.Lys9Met) n.507A>T c.605A>T (p.Lys202Met) n.716A>T c.539A>T (p.Lys180Met) c.563A>T (p.Lys188Met) n.254A>T n.757A>T | dbSNP |
| 19 | g.52212746G>A | CA508826426 | PPP2R1A | c.684G>A (p.Lys228=) c.27G>A (p.Lys9=) n.508G>A c.606G>A (p.Lys202=) n.717G>A c.540G>A (p.Lys180=) c.564G>A (p.Lys188=) n.255G>A n.758G>A | dbSNP gnomAD v4 |
| 19 | g.52212746G>C | CA407183649 | PPP2R1A | c.684G>C (p.Lys228Asn) c.27G>C (p.Lys9Asn) n.508G>C c.606G>C (p.Lys202Asn) n.717G>C c.540G>C (p.Lys180Asn) c.564G>C (p.Lys188Asn) n.255G>C n.758G>C | dbSNP |
| 19 | g.52212746G= | CA2341739295 | PPP2R1A | c.684G= (p.Lys228=) c.27G= (p.Lys9=) n.508G= c.606G= (p.Lys202=) n.717G= c.540G= (p.Lys180=) c.564G= (p.Lys188=) n.255G= n.758G= | |
| 19 | g.52212746G>T | CA407183650 | PPP2R1A | c.684G>T (p.Lys228Asn) c.27G>T (p.Lys9Asn) n.508G>T c.606G>T (p.Lys202Asn) n.717G>T c.540G>T (p.Lys180Asn) c.564G>T (p.Lys188Asn) n.255G>T n.758G>T | |
| 19 | g.52212747C>A | CA407183651 | PPP2R1A | c.685C>A (p.Leu229Met) c.28C>A (p.Leu10Met) n.509C>A c.607C>A (p.Leu203Met) n.718C>A c.541C>A (p.Leu181Met) c.565C>A (p.Leu189Met) n.256C>A n.759C>A | dbSNP |
| 19 | g.52212747C>G | CA407183655 | PPP2R1A | c.685C>G (p.Leu229Val) c.28C>G (p.Leu10Val) n.509C>G c.607C>G (p.Leu203Val) n.718C>G c.541C>G (p.Leu181Val) c.565C>G (p.Leu189Val) n.256C>G n.759C>G | dbSNP |
| 19 | g.52212747C>T | CA508826427 | PPP2R1A | c.685C>T (p.Leu229=) c.28C>T (p.Leu10=) n.509C>T c.607C>T (p.Leu203=) n.718C>T c.541C>T (p.Leu181=) c.565C>T (p.Leu189=) n.256C>T n.759C>T | dbSNP |
| 19 | g.52212748T>A | CA407183657 | PPP2R1A | c.686T>A (p.Leu229Gln) c.29T>A (p.Leu10Gln) n.510T>A c.608T>A (p.Leu203Gln) n.719T>A c.542T>A (p.Leu181Gln) c.566T>A (p.Leu189Gln) n.257T>A n.760T>A | |
| 19 | g.52212748T>C | CA407183658 | PPP2R1A | c.686T>C (p.Leu229Pro) c.29T>C (p.Leu10Pro) n.510T>C c.608T>C (p.Leu203Pro) n.719T>C c.542T>C (p.Leu181Pro) c.566T>C (p.Leu189Pro) n.257T>C n.760T>C | |
| 19 | g.52212748T>G | CA407183661 | PPP2R1A | c.686T>G (p.Leu229Arg) c.29T>G (p.Leu10Arg) n.510T>G c.608T>G (p.Leu203Arg) n.719T>G c.542T>G (p.Leu181Arg) c.566T>G (p.Leu189Arg) n.257T>G n.760T>G | |
| 19 | g.52212749G>A | CA508826428 | PPP2R1A | c.687G>A (p.Leu229=) c.30G>A (p.Leu10=) n.511G>A c.609G>A (p.Leu203=) n.720G>A c.543G>A (p.Leu181=) c.567G>A (p.Leu189=) n.258G>A n.761G>A | |
| 19 | g.52212749G>C | CA9621369 | PPP2R1A | c.687G>C (p.Leu229=) c.30G>C (p.Leu10=) n.511G>C c.609G>C (p.Leu203=) n.720G>C c.543G>C (p.Leu181=) c.567G>C (p.Leu189=) n.258G>C n.761G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.52212749G= | CA2341739296 | PPP2R1A | c.687G= (p.Leu229=) c.30G= (p.Leu10=) n.511G= c.609G= (p.Leu203=) n.720G= c.543G= (p.Leu181=) c.567G= (p.Leu189=) n.258G= n.761G= | |
| 19 | g.52212749G>T | CA508826429 | PPP2R1A | c.687G>T (p.Leu229=) c.30G>T (p.Leu10=) n.511G>T c.609G>T (p.Leu203=) n.720G>T c.543G>T (p.Leu181=) c.567G>T (p.Leu189=) n.258G>T n.761G>T | |
| 19 | g.52212750G>A | CA407183664 | PPP2R1A | c.688G>A (p.Gly230Arg) c.31G>A (p.Gly11Arg) n.512G>A c.610G>A (p.Gly204Arg) n.721G>A c.544G>A (p.Gly182Arg) c.568G>A (p.Gly190Arg) n.259G>A n.762G>A | dbSNP gnomAD v4 |
| 19 | g.52212750G>C | CA407183666 | PPP2R1A | c.688G>C (p.Gly230Arg) c.31G>C (p.Gly11Arg) n.512G>C c.610G>C (p.Gly204Arg) n.721G>C c.544G>C (p.Gly182Arg) c.568G>C (p.Gly190Arg) n.259G>C n.762G>C | dbSNP |
| 19 | g.52212750G>T | CA407183669 | PPP2R1A | c.688G>T (p.Gly230Trp) c.31G>T (p.Gly11Trp) n.512G>T c.610G>T (p.Gly204Trp) n.721G>T c.544G>T (p.Gly182Trp) c.568G>T (p.Gly190Trp) n.259G>T n.762G>T | ClinVar dbSNP |
| 19 | g.52212751G>A | CA407183673 | PPP2R1A | c.689G>A (p.Gly230Glu) c.32G>A (p.Gly11Glu) n.513G>A c.611G>A (p.Gly204Glu) n.722G>A c.545G>A (p.Gly182Glu) c.569G>A (p.Gly190Glu) n.260G>A n.763G>A | dbSNP |
| 19 | g.52212751G>C | CA407183678 | PPP2R1A | c.689G>C (p.Gly230Ala) c.32G>C (p.Gly11Ala) n.513G>C c.611G>C (p.Gly204Ala) n.722G>C c.545G>C (p.Gly182Ala) c.569G>C (p.Gly190Ala) n.260G>C n.763G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.52212751G= | CA2341739297 | PPP2R1A | c.689G= (p.Gly230=) c.32G= (p.Gly11=) n.513G= c.611G= (p.Gly204=) n.722G= c.545G= (p.Gly182=) c.569G= (p.Gly190=) n.260G= n.763G= | |
| 19 | g.52212751G>T | CA407183687 | PPP2R1A | c.689G>T (p.Gly230Val) c.32G>T (p.Gly11Val) n.513G>T c.611G>T (p.Gly204Val) n.722G>T c.545G>T (p.Gly182Val) c.569G>T (p.Gly190Val) n.260G>T n.763G>T | dbSNP |
| 19 | g.52212752G>A | CA9621370 | PPP2R1A | c.690G>A (p.Gly230=) c.33G>A (p.Gly11=) n.514G>A c.612G>A (p.Gly204=) n.723G>A c.546G>A (p.Gly182=) c.570G>A (p.Gly190=) n.261G>A n.764G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.52212752G>C | CA508826430 | PPP2R1A | c.690G>C (p.Gly230=) c.33G>C (p.Gly11=) n.514G>C c.612G>C (p.Gly204=) n.723G>C c.546G>C (p.Gly182=) c.570G>C (p.Gly190=) n.261G>C n.764G>C | dbSNP |
| 19 | g.52212752G= | CA2341739298 | PPP2R1A | c.690G= (p.Gly230=) c.33G= (p.Gly11=) n.514G= c.612G= (p.Gly204=) n.723G= c.546G= (p.Gly182=) c.570G= (p.Gly190=) n.261G= n.764G= | |
| 19 | g.52212752G>T | CA508826431 | PPP2R1A | c.690G>T (p.Gly230=) c.33G>T (p.Gly11=) n.514G>T c.612G>T (p.Gly204=) n.723G>T c.546G>T (p.Gly182=) c.570G>T (p.Gly190=) n.261G>T n.764G>T | dbSNP |
| 19 | g.52212753G>A | CA407183694 | PPP2R1A | c.691G>A (p.Glu231Lys) c.34G>A (p.Glu12Lys) n.515G>A c.613G>A (p.Glu205Lys) n.724G>A c.547G>A (p.Glu183Lys) c.571G>A (p.Glu191Lys) n.262G>A n.765G>A | ClinVar |
| 19 | g.52212753G>C | CA407183692 | PPP2R1A | c.691G>C (p.Glu231Gln) c.34G>C (p.Glu12Gln) n.515G>C c.613G>C (p.Glu205Gln) n.724G>C c.547G>C (p.Glu183Gln) c.571G>C (p.Glu191Gln) n.262G>C n.765G>C | |
| 19 | g.52212753G>T | CA407183689 | PPP2R1A | c.691G>T (p.Glu231Ter) c.34G>T (p.Glu12Ter) n.515G>T c.613G>T (p.Glu205Ter) n.724G>T c.547G>T (p.Glu183Ter) c.571G>T (p.Glu191Ter) n.262G>T n.765G>T | |
| 19 | g.52212754A= | CA2341739299 | PPP2R1A | c.692A= (p.Glu231=) c.35A= (p.Glu12=) n.516A= c.614A= (p.Glu205=) n.725A= c.548A= (p.Glu183=) c.572A= (p.Glu191=) n.263A= n.766A= | |
| 19 | g.52212754A>C | CA407183696 | PPP2R1A | c.692A>C (p.Glu231Ala) c.35A>C (p.Glu12Ala) n.516A>C c.614A>C (p.Glu205Ala) n.725A>C c.548A>C (p.Glu183Ala) c.572A>C (p.Glu191Ala) n.263A>C n.766A>C | |
| 19 | g.52212754A>G | CA309865883 | PPP2R1A | c.692A>G (p.Glu231Gly) c.35A>G (p.Glu12Gly) n.516A>G c.614A>G (p.Glu205Gly) n.725A>G c.548A>G (p.Glu183Gly) c.572A>G (p.Glu191Gly) n.263A>G n.766A>G | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.52212754A>T | CA407183699 | PPP2R1A | c.692A>T (p.Glu231Val) c.35A>T (p.Glu12Val) n.516A>T c.614A>T (p.Glu205Val) n.725A>T c.548A>T (p.Glu183Val) c.572A>T (p.Glu191Val) n.263A>T n.766A>T | dbSNP |
| 19 | g.52212755G>A | CA508826432 | PPP2R1A | c.693G>A (p.Glu231=) c.36G>A (p.Glu12=) n.517G>A c.615G>A (p.Glu205=) n.726G>A c.549G>A (p.Glu183=) c.573G>A (p.Glu191=) n.264G>A n.767G>A | ClinVar dbSNP |
| 19 | g.52212755G>C | CA407183703 | PPP2R1A | c.693G>C (p.Glu231Asp) c.36G>C (p.Glu12Asp) n.517G>C c.615G>C (p.Glu205Asp) n.726G>C c.549G>C (p.Glu183Asp) c.573G>C (p.Glu191Asp) n.264G>C n.767G>C | |
| 19 | g.52212755G= | CA2341739300 | PPP2R1A | c.693G= (p.Glu231=) c.36G= (p.Glu12=) n.517G= c.615G= (p.Glu205=) n.726G= c.549G= (p.Glu183=) c.573G= (p.Glu191=) n.264G= n.767G= | |
| 19 | g.52212755G>T | CA407183705 | PPP2R1A | c.693G>T (p.Glu231Asp) c.36G>T (p.Glu12Asp) n.517G>T c.615G>T (p.Glu205Asp) n.726G>T c.549G>T (p.Glu183Asp) c.573G>T (p.Glu191Asp) n.264G>T n.767G>T | |
| 19 | g.52212756T>A | CA407183710 | PPP2R1A | c.694T>A (p.Phe232Ile) c.37T>A (p.Phe13Ile) n.518T>A c.616T>A (p.Phe206Ile) n.727T>A c.550T>A (p.Phe184Ile) c.574T>A (p.Phe192Ile) n.265T>A n.768T>A | dbSNP |
| 19 | g.52212756T>C | CA407183712 | PPP2R1A | c.694T>C (p.Phe232Leu) c.37T>C (p.Phe13Leu) n.518T>C c.616T>C (p.Phe206Leu) n.727T>C c.550T>C (p.Phe184Leu) c.574T>C (p.Phe192Leu) n.265T>C n.768T>C | |
| 19 | g.52212756T>G | CA407183715 | PPP2R1A | c.694T>G (p.Phe232Val) c.37T>G (p.Phe13Val) n.518T>G c.616T>G (p.Phe206Val) n.727T>G c.550T>G (p.Phe184Val) c.574T>G (p.Phe192Val) n.265T>G n.768T>G | dbSNP gnomAD v2 |
| 19 | g.52212756T= | CA2341739301 | PPP2R1A | c.694T= (p.Phe232=) c.37T= (p.Phe13=) n.518T= c.616T= (p.Phe206=) n.727T= c.550T= (p.Phe184=) c.574T= (p.Phe192=) n.265T= n.768T= | |
| 19 | g.52212758del | CA2586787408 | PPP2R1A | c.696del (p.Phe232LeufsTer?) c.39del (p.Phe13LeufsTer?) n.520del c.618del (p.Phe206LeufsTer?) n.729del c.552del (p.Phe184LeufsTer?) c.576del (p.Phe192LeufsTer?) n.267del n.770del | gnomAD v4 |
| 19 | g.52212757T>A | CA407183718 | PPP2R1A | c.695T>A (p.Phe232Tyr) c.38T>A (p.Phe13Tyr) n.519T>A c.617T>A (p.Phe206Tyr) n.728T>A c.551T>A (p.Phe184Tyr) c.575T>A (p.Phe192Tyr) n.266T>A n.769T>A | dbSNP |
| 19 | g.52212757T>C | CA407183720 | PPP2R1A | c.695T>C (p.Phe232Ser) c.38T>C (p.Phe13Ser) n.519T>C c.617T>C (p.Phe206Ser) n.728T>C c.551T>C (p.Phe184Ser) c.575T>C (p.Phe192Ser) n.266T>C n.769T>C | dbSNP |
| 19 | g.52212757T>G | CA407183722 | PPP2R1A | c.695T>G (p.Phe232Cys) c.38T>G (p.Phe13Cys) n.519T>G c.617T>G (p.Phe206Cys) n.728T>G c.551T>G (p.Phe184Cys) c.575T>G (p.Phe192Cys) n.266T>G n.769T>G | dbSNP |
| 19 | g.52212758T>A | CA407183725 | PPP2R1A | c.696T>A (p.Phe232Leu) c.39T>A (p.Phe13Leu) n.520T>A c.618T>A (p.Phe206Leu) n.729T>A c.552T>A (p.Phe184Leu) c.576T>A (p.Phe192Leu) n.267T>A n.770T>A | dbSNP |
| 19 | g.52212758T>C | CA508826433 | PPP2R1A | c.696T>C (p.Phe232=) c.39T>C (p.Phe13=) n.520T>C c.618T>C (p.Phe206=) n.729T>C c.552T>C (p.Phe184=) c.576T>C (p.Phe192=) n.267T>C n.770T>C | dbSNP |
| 19 | g.52212758T>G | CA407183728 | PPP2R1A | c.696T>G (p.Phe232Leu) c.39T>G (p.Phe13Leu) n.520T>G c.618T>G (p.Phe206Leu) n.729T>G c.552T>G (p.Phe184Leu) c.576T>G (p.Phe192Leu) n.267T>G n.770T>G | ClinVar gnomAD v4 |
| 19 | g.52212759G>A | CA407183740 | PPP2R1A | c.697G>A (p.Ala233Thr) c.40G>A (p.Ala14Thr) n.521G>A c.619G>A (p.Ala207Thr) n.730G>A c.553G>A (p.Ala185Thr) c.577G>A (p.Ala193Thr) n.268G>A n.771G>A | |
| 19 | g.52212759G>C | CA407183731 | PPP2R1A | c.697G>C (p.Ala233Pro) c.40G>C (p.Ala14Pro) n.521G>C c.619G>C (p.Ala207Pro) n.730G>C c.553G>C (p.Ala185Pro) c.577G>C (p.Ala193Pro) n.268G>C n.771G>C | |
| 19 | g.52212759G>T | CA407183734 | PPP2R1A | c.697G>T (p.Ala233Ser) c.40G>T (p.Ala14Ser) n.521G>T c.619G>T (p.Ala207Ser) n.730G>T c.553G>T (p.Ala185Ser) c.577G>T (p.Ala193Ser) n.268G>T n.771G>T | |
| 19 | g.52212760C>A | CA407183743 | PPP2R1A | c.698C>A (p.Ala233Asp) c.41C>A (p.Ala14Asp) n.522C>A c.620C>A (p.Ala207Asp) n.731C>A c.554C>A (p.Ala185Asp) c.578C>A (p.Ala193Asp) n.269C>A n.772C>A | dbSNP |
| 19 | g.52212760C>G | CA407183745 | PPP2R1A | c.698C>G (p.Ala233Gly) c.41C>G (p.Ala14Gly) n.522C>G c.620C>G (p.Ala207Gly) n.731C>G c.554C>G (p.Ala185Gly) c.578C>G (p.Ala193Gly) n.269C>G n.772C>G | dbSNP |
| 19 | g.52212760C>T | CA407183746 | PPP2R1A | c.698C>T (p.Ala233Val) c.41C>T (p.Ala14Val) n.522C>T c.620C>T (p.Ala207Val) n.731C>T c.554C>T (p.Ala185Val) c.578C>T (p.Ala193Val) n.269C>T n.772C>T | dbSNP |
| 19 | g.52212761C>A | CA508826434 | PPP2R1A | c.699C>A (p.Ala233=) c.42C>A (p.Ala14=) n.523C>A c.621C>A (p.Ala207=) n.732C>A c.555C>A (p.Ala185=) c.579C>A (p.Ala193=) n.270C>A n.773C>A | dbSNP |
| 19 | g.52212761C>G | CA508826436 | PPP2R1A | c.699C>G (p.Ala233=) c.42C>G (p.Ala14=) n.523C>G c.621C>G (p.Ala207=) n.732C>G c.555C>G (p.Ala185=) c.579C>G (p.Ala193=) n.270C>G n.773C>G | dbSNP |
| 19 | g.52212761C>T | CA508826435 | PPP2R1A | c.699C>T (p.Ala233=) c.42C>T (p.Ala14=) n.523C>T c.621C>T (p.Ala207=) n.732C>T c.555C>T (p.Ala185=) c.579C>T (p.Ala193=) n.270C>T n.773C>T | dbSNP |
| 19 | g.52212762A>C | CA407183748 | PPP2R1A | c.700A>C (p.Lys234Gln) c.43A>C (p.Lys15Gln) n.524A>C c.622A>C (p.Lys208Gln) n.733A>C c.556A>C (p.Lys186Gln) c.580A>C (p.Lys194Gln) n.271A>C n.774A>C | |
| 19 | g.52212762A>G | CA407183749 | PPP2R1A | c.700A>G (p.Lys234Glu) c.43A>G (p.Lys15Glu) n.524A>G c.622A>G (p.Lys208Glu) n.733A>G c.556A>G (p.Lys186Glu) c.580A>G (p.Lys194Glu) n.271A>G n.774A>G | dbSNP |
| 19 | g.52212762A>T | CA407183751 | PPP2R1A | c.700A>T (p.Lys234Ter) c.43A>T (p.Lys15Ter) n.524A>T c.622A>T (p.Lys208Ter) n.733A>T c.556A>T (p.Lys186Ter) c.580A>T (p.Lys194Ter) n.271A>T n.774A>T | dbSNP |
| 19 | g.52212763A>C | CA407183757 | PPP2R1A | c.701A>C (p.Lys234Thr) c.44A>C (p.Lys15Thr) n.525A>C c.623A>C (p.Lys208Thr) n.734A>C c.557A>C (p.Lys186Thr) c.581A>C (p.Lys194Thr) n.272A>C n.775A>C | |
| 19 | g.52212763A>G | CA407183759 | PPP2R1A | c.701A>G (p.Lys234Arg) c.44A>G (p.Lys15Arg) n.525A>G c.623A>G (p.Lys208Arg) n.734A>G c.557A>G (p.Lys186Arg) c.581A>G (p.Lys194Arg) n.272A>G n.775A>G | dbSNP |
| 19 | g.52212763A>T | CA407183761 | PPP2R1A | c.701A>T (p.Lys234Met) c.44A>T (p.Lys15Met) n.525A>T c.623A>T (p.Lys208Met) n.734A>T c.557A>T (p.Lys186Met) c.581A>T (p.Lys194Met) n.272A>T n.775A>T | dbSNP |
| 19 | g.52212764G>A | CA508826437 | PPP2R1A | c.702G>A (p.Lys234=) c.45G>A (p.Lys15=) n.526G>A c.624G>A (p.Lys208=) n.735G>A c.558G>A (p.Lys186=) c.582G>A (p.Lys194=) n.273G>A n.776G>A | dbSNP |
| 19 | g.52212764G>C | CA407183764 | PPP2R1A | c.702G>C (p.Lys234Asn) c.45G>C (p.Lys15Asn) n.526G>C c.624G>C (p.Lys208Asn) n.735G>C c.558G>C (p.Lys186Asn) c.582G>C (p.Lys194Asn) n.273G>C n.776G>C | dbSNP |
| 19 | g.52212764G>T | CA407183767 | PPP2R1A | c.702G>T (p.Lys234Asn) c.45G>T (p.Lys15Asn) n.526G>T c.624G>T (p.Lys208Asn) n.735G>T c.558G>T (p.Lys186Asn) c.582G>T (p.Lys194Asn) n.273G>T n.776G>T | dbSNP |
| 19 | g.52212765G>A | CA407183780 | PPP2R1A | c.703G>A (p.Val235Met) c.46G>A (p.Val16Met) n.527G>A c.625G>A (p.Val209Met) n.736G>A c.559G>A (p.Val187Met) c.583G>A (p.Val195Met) n.274G>A n.777G>A | dbSNP gnomAD v4 COSMIC |
| 19 | g.52212765G>C | CA407183777 | PPP2R1A | c.703G>C (p.Val235Leu) c.46G>C (p.Val16Leu) n.527G>C c.625G>C (p.Val209Leu) n.736G>C c.559G>C (p.Val187Leu) c.583G>C (p.Val195Leu) n.274G>C n.777G>C | dbSNP |
| 19 | g.52212765G>T | CA407183771 | PPP2R1A | c.703G>T (p.Val235Leu) c.46G>T (p.Val16Leu) n.527G>T c.625G>T (p.Val209Leu) n.736G>T c.559G>T (p.Val187Leu) c.583G>T (p.Val195Leu) n.274G>T n.777G>T | |
| 19 | g.52212766T>A | CA407183783 | PPP2R1A | c.704T>A (p.Val235Glu) c.47T>A (p.Val16Glu) n.528T>A c.626T>A (p.Val209Glu) n.737T>A c.560T>A (p.Val187Glu) c.584T>A (p.Val195Glu) n.275T>A n.778T>A | dbSNP |
| 19 | g.52212766T>C | CA407183787 | PPP2R1A | c.704T>C (p.Val235Ala) c.47T>C (p.Val16Ala) n.528T>C c.626T>C (p.Val209Ala) n.737T>C c.560T>C (p.Val187Ala) c.584T>C (p.Val195Ala) n.275T>C n.778T>C | |
| 19 | g.52212766T>G | CA407183785 | PPP2R1A | c.704T>G (p.Val235Gly) c.47T>G (p.Val16Gly) n.528T>G c.626T>G (p.Val209Gly) n.737T>G c.560T>G (p.Val187Gly) c.584T>G (p.Val195Gly) n.275T>G n.778T>G | COSMIC |
| 19 | g.52212767G>A | CA508826438 | PPP2R1A | c.705G>A (p.Val235=) c.48G>A (p.Val16=) n.529G>A c.627G>A (p.Val209=) n.738G>A c.561G>A (p.Val187=) c.585G>A (p.Val195=) n.276G>A n.779G>A | dbSNP |
| 19 | g.52212767G>C | CA508826439 | PPP2R1A | c.705G>C (p.Val235=) c.48G>C (p.Val16=) n.529G>C c.627G>C (p.Val209=) n.738G>C c.561G>C (p.Val187=) c.585G>C (p.Val195=) n.276G>C n.779G>C | dbSNP |
| 19 | g.52212767G>T | CA508826440 | PPP2R1A | c.705G>T (p.Val235=) c.48G>T (p.Val16=) n.529G>T c.627G>T (p.Val209=) n.738G>T c.561G>T (p.Val187=) c.585G>T (p.Val195=) n.276G>T n.779G>T | |
| 19 | g.52212768C>A | CA407183791 | PPP2R1A | c.706C>A (p.Leu236Met) c.49C>A (p.Leu17Met) n.530C>A c.628C>A (p.Leu210Met) n.739C>A c.562C>A (p.Leu188Met) c.586C>A (p.Leu196Met) n.277C>A n.780C>A | dbSNP |
| 19 | g.52212768C= | CA2341739302 | PPP2R1A | c.706C= (p.Leu236=) c.49C= (p.Leu17=) n.530C= c.628C= (p.Leu210=) n.739C= c.562C= (p.Leu188=) c.586C= (p.Leu196=) n.277C= n.780C= | |
| 19 | g.52212768C>G | CA407183793 | PPP2R1A | c.706C>G (p.Leu236Val) c.49C>G (p.Leu17Val) n.530C>G c.628C>G (p.Leu210Val) n.739C>G c.562C>G (p.Leu188Val) c.586C>G (p.Leu196Val) n.277C>G n.780C>G | dbSNP |
| 19 | g.52212768C>T | CA9621371 | PPP2R1A | c.706C>T (p.Leu236=) c.49C>T (p.Leu17=) n.530C>T c.628C>T (p.Leu210=) n.739C>T c.562C>T (p.Leu188=) c.586C>T (p.Leu196=) n.277C>T n.780C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.52212769T>A | CA407183797 | PPP2R1A | c.707T>A (p.Leu236Gln) c.50T>A (p.Leu17Gln) n.531T>A c.629T>A (p.Leu210Gln) n.740T>A c.563T>A (p.Leu188Gln) c.587T>A (p.Leu196Gln) n.278T>A n.781T>A | |
| 19 | g.52212769T>C | CA407183800 | PPP2R1A | c.707T>C (p.Leu236Pro) c.50T>C (p.Leu17Pro) n.531T>C c.629T>C (p.Leu210Pro) n.740T>C c.563T>C (p.Leu188Pro) c.587T>C (p.Leu196Pro) n.278T>C n.781T>C | |
| 19 | g.52212769T>G | CA407183802 | PPP2R1A | c.707T>G (p.Leu236Arg) c.50T>G (p.Leu17Arg) n.531T>G c.629T>G (p.Leu210Arg) n.740T>G c.563T>G (p.Leu188Arg) c.587T>G (p.Leu196Arg) n.278T>G n.781T>G | |
| 19 | g.52212770G>A | CA508826443 | PPP2R1A | c.708G>A (p.Leu236=) c.51G>A (p.Leu17=) n.532G>A c.630G>A (p.Leu210=) n.741G>A c.564G>A (p.Leu188=) c.588G>A (p.Leu196=) n.279G>A n.782G>A | dbSNP gnomAD v4 |
| 19 | g.52212770G>C | CA508826442 | PPP2R1A | c.708G>C (p.Leu236=) c.51G>C (p.Leu17=) n.532G>C c.630G>C (p.Leu210=) n.741G>C c.564G>C (p.Leu188=) c.588G>C (p.Leu196=) n.279G>C n.782G>C | dbSNP |
| 19 | g.52212770G>T | CA508826441 | PPP2R1A | c.708G>T (p.Leu236=) c.51G>T (p.Leu17=) n.532G>T c.630G>T (p.Leu210=) n.741G>T c.564G>T (p.Leu188=) c.588G>T (p.Leu196=) n.279G>T n.782G>T | dbSNP |
| 19 | g.52212771del | CA2735975768 | PPP2R1A | c.709del (p.Glu237SerfsTer?) c.52del (p.Glu18SerfsTer?) n.533del c.631del (p.Glu211SerfsTer?) n.742del c.565del (p.Glu189SerfsTer?) c.589del (p.Glu197SerfsTer?) n.280del n.783del | dbSNP |
| 19 | g.52212771G>A | CA407183805 | PPP2R1A | c.709G>A (p.Glu237Lys) c.52G>A (p.Glu18Lys) n.533G>A c.631G>A (p.Glu211Lys) n.742G>A c.565G>A (p.Glu189Lys) c.589G>A (p.Glu197Lys) n.280G>A n.783G>A | dbSNP |
| 19 | g.52212771G>C | CA407183807 | PPP2R1A | c.709G>C (p.Glu237Gln) c.52G>C (p.Glu18Gln) n.533G>C c.631G>C (p.Glu211Gln) n.742G>C c.565G>C (p.Glu189Gln) c.589G>C (p.Glu197Gln) n.280G>C n.783G>C | dbSNP |
| 19 | g.52212771G>T | CA407183809 | PPP2R1A | c.709G>T (p.Glu237Ter) c.52G>T (p.Glu18Ter) n.533G>T c.631G>T (p.Glu211Ter) n.742G>T c.565G>T (p.Glu189Ter) c.589G>T (p.Glu197Ter) n.280G>T n.783G>T | dbSNP |
| 19 | g.52212772A>C | CA407183810 | PPP2R1A | c.710A>C (p.Glu237Ala) c.53A>C (p.Glu18Ala) n.534A>C c.632A>C (p.Glu211Ala) n.743A>C c.566A>C (p.Glu189Ala) c.590A>C (p.Glu197Ala) n.281A>C n.784A>C | |
| 19 | g.52212772A>G | CA407183813 | PPP2R1A | c.710A>G (p.Glu237Gly) c.53A>G (p.Glu18Gly) n.534A>G c.632A>G (p.Glu211Gly) n.743A>G c.566A>G (p.Glu189Gly) c.590A>G (p.Glu197Gly) n.281A>G n.784A>G | dbSNP |
| 19 | g.52212772A>T | CA407183816 | PPP2R1A | c.710A>T (p.Glu237Val) c.53A>T (p.Glu18Val) n.534A>T c.632A>T (p.Glu211Val) n.743A>T c.566A>T (p.Glu189Val) c.590A>T (p.Glu197Val) n.281A>T n.784A>T | dbSNP |
| 19 | g.52212773G>A | CA9621372 | PPP2R1A | c.711G>A (p.Glu237=) c.54G>A (p.Glu18=) n.535G>A c.633G>A (p.Glu211=) n.744G>A c.567G>A (p.Glu189=) c.591G>A (p.Glu197=) n.282G>A n.785G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.52212773G>C | CA407183818 | PPP2R1A | c.711G>C (p.Glu237Asp) c.54G>C (p.Glu18Asp) n.535G>C c.633G>C (p.Glu211Asp) n.744G>C c.567G>C (p.Glu189Asp) c.591G>C (p.Glu197Asp) n.282G>C n.785G>C | |
| 19 | g.52212773G= | CA2341739303 | PPP2R1A | c.711G= (p.Glu237=) c.54G= (p.Glu18=) n.535G= c.633G= (p.Glu211=) n.744G= c.567G= (p.Glu189=) c.591G= (p.Glu197=) n.282G= n.785G= | |
| 19 | g.52212773G>T | CA407183821 | PPP2R1A | c.711G>T (p.Glu237Asp) c.54G>T (p.Glu18Asp) n.535G>T c.633G>T (p.Glu211Asp) n.744G>T c.567G>T (p.Glu189Asp) c.591G>T (p.Glu197Asp) n.282G>T n.785G>T | dbSNP |
| 19 | g.52212774C>A | CA407183826 | PPP2R1A | c.712C>A (p.Leu238Met) c.55C>A (p.Leu19Met) n.536C>A c.634C>A (p.Leu212Met) n.745C>A c.568C>A (p.Leu190Met) c.592C>A (p.Leu198Met) n.283C>A n.786C>A | dbSNP |
| 19 | g.52212774C>G | CA407183829 | PPP2R1A | c.712C>G (p.Leu238Val) c.55C>G (p.Leu19Val) n.536C>G c.634C>G (p.Leu212Val) n.745C>G c.568C>G (p.Leu190Val) c.592C>G (p.Leu198Val) n.283C>G n.786C>G | dbSNP |
| 19 | g.52212774C>T | CA508826444 | PPP2R1A | c.712C>T (p.Leu238=) c.55C>T (p.Leu19=) n.536C>T c.634C>T (p.Leu212=) n.745C>T c.568C>T (p.Leu190=) c.592C>T (p.Leu198=) n.283C>T n.786C>T | dbSNP |
| 19 | g.52212775T>A | CA407183832 | PPP2R1A | c.713T>A (p.Leu238Gln) c.56T>A (p.Leu19Gln) n.537T>A c.635T>A (p.Leu212Gln) n.746T>A c.569T>A (p.Leu190Gln) c.593T>A (p.Leu198Gln) n.284T>A n.787T>A | |
| 19 | g.52212775T>C | CA407183834 | PPP2R1A | c.713T>C (p.Leu238Pro) c.56T>C (p.Leu19Pro) n.537T>C c.635T>C (p.Leu212Pro) n.746T>C c.569T>C (p.Leu190Pro) c.593T>C (p.Leu198Pro) n.284T>C n.787T>C | |
| 19 | g.52212775T>G | CA407183836 | PPP2R1A | c.713T>G (p.Leu238Arg) c.56T>G (p.Leu19Arg) n.537T>G c.635T>G (p.Leu212Arg) n.746T>G c.569T>G (p.Leu190Arg) c.593T>G (p.Leu198Arg) n.284T>G n.787T>G | |
| 19 | g.52212776G>A | CA508826445 | PPP2R1A | c.714G>A (p.Leu238=) c.57G>A (p.Leu19=) n.538G>A c.636G>A (p.Leu212=) n.747G>A c.570G>A (p.Leu190=) c.594G>A (p.Leu198=) n.285G>A n.788G>A | dbSNP |
| 19 | g.52212776G>C | CA508826446 | PPP2R1A | c.714G>C (p.Leu238=) c.57G>C (p.Leu19=) n.538G>C c.636G>C (p.Leu212=) n.747G>C c.570G>C (p.Leu190=) c.594G>C (p.Leu198=) n.285G>C n.788G>C | dbSNP |
| 19 | g.52212776G>T | CA508826447 | PPP2R1A | c.714G>T (p.Leu238=) c.57G>T (p.Leu19=) n.538G>T c.636G>T (p.Leu212=) n.747G>T c.570G>T (p.Leu190=) c.594G>T (p.Leu198=) n.285G>T n.788G>T | dbSNP |
| 19 | g.52212777G>A | CA407183839 | PPP2R1A | c.715G>A (p.Asp239Asn) c.58G>A (p.Asp20Asn) n.539G>A c.637G>A (p.Asp213Asn) n.748G>A c.571G>A (p.Asp191Asn) c.595G>A (p.Asp199Asn) n.286G>A n.789G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.52212777G>C | CA407183842 | PPP2R1A | c.715G>C (p.Asp239His) c.58G>C (p.Asp20His) n.539G>C c.637G>C (p.Asp213His) n.748G>C c.571G>C (p.Asp191His) c.595G>C (p.Asp199His) n.286G>C n.789G>C | dbSNP |
| 19 | g.52212777G= | CA2341739304 | PPP2R1A | c.715G= (p.Asp239=) c.58G= (p.Asp20=) n.539G= c.637G= (p.Asp213=) n.748G= c.571G= (p.Asp191=) c.595G= (p.Asp199=) n.286G= n.789G= | |
| 19 | g.52212777G>T | CA407183843 | PPP2R1A | c.715G>T (p.Asp239Tyr) c.58G>T (p.Asp20Tyr) n.539G>T c.637G>T (p.Asp213Tyr) n.748G>T c.571G>T (p.Asp191Tyr) c.595G>T (p.Asp199Tyr) n.286G>T n.789G>T | dbSNP |
| 19 | g.52212778A>C | CA407183847 | PPP2R1A | c.716A>C (p.Asp239Ala) c.59A>C (p.Asp20Ala) n.540A>C c.638A>C (p.Asp213Ala) n.749A>C c.572A>C (p.Asp191Ala) c.596A>C (p.Asp199Ala) n.287A>C n.790A>C | dbSNP |
| 19 | g.52212778A>G | CA407183850 | PPP2R1A | c.716A>G (p.Asp239Gly) c.59A>G (p.Asp20Gly) n.540A>G c.638A>G (p.Asp213Gly) n.749A>G c.572A>G (p.Asp191Gly) c.596A>G (p.Asp199Gly) n.287A>G n.790A>G | dbSNP |
| 19 | g.52212778A>T | CA407183852 | PPP2R1A | c.716A>T (p.Asp239Val) c.59A>T (p.Asp20Val) n.540A>T c.638A>T (p.Asp213Val) n.749A>T c.572A>T (p.Asp191Val) c.596A>T (p.Asp199Val) n.287A>T n.790A>T | dbSNP |
| 19 | g.52212779C>A | CA407183857 | PPP2R1A | c.717C>A (p.Asp239Glu) c.60C>A (p.Asp20Glu) n.541C>A c.639C>A (p.Asp213Glu) n.750C>A c.573C>A (p.Asp191Glu) c.597C>A (p.Asp199Glu) n.288C>A n.791C>A | dbSNP |
| 19 | g.52212779C>G | CA407183855 | PPP2R1A | c.717C>G (p.Asp239Glu) c.60C>G (p.Asp20Glu) n.541C>G c.639C>G (p.Asp213Glu) n.750C>G c.573C>G (p.Asp191Glu) c.597C>G (p.Asp199Glu) n.288C>G n.791C>G | dbSNP |
| 19 | g.52212779C>T | CA508826448 | PPP2R1A | c.717C>T (p.Asp239=) c.60C>T (p.Asp20=) n.541C>T c.639C>T (p.Asp213=) n.750C>T c.573C>T (p.Asp191=) c.597C>T (p.Asp199=) n.288C>T n.791C>T | dbSNP |
| 19 | g.52212780A>C | CA407183862 | PPP2R1A | c.718A>C (p.Asn240His) c.61A>C (p.Asn21His) n.542A>C c.640A>C (p.Asn214His) n.751A>C c.574A>C (p.Asn192His) c.598A>C (p.Asn200His) n.289A>C n.792A>C | dbSNP |
| 19 | g.52212780A>G | CA407183863 | PPP2R1A | c.718A>G (p.Asn240Asp) c.61A>G (p.Asn21Asp) n.542A>G c.640A>G (p.Asn214Asp) n.751A>G c.574A>G (p.Asn192Asp) c.598A>G (p.Asn200Asp) n.289A>G n.792A>G | dbSNP gnomAD v4 |
| 19 | g.52212780A>T | CA407183865 | PPP2R1A | c.718A>T (p.Asn240Tyr) c.61A>T (p.Asn21Tyr) n.542A>T c.640A>T (p.Asn214Tyr) n.751A>T c.574A>T (p.Asn192Tyr) c.598A>T (p.Asn200Tyr) n.289A>T n.792A>T | dbSNP |
| 19 | g.52212781A= | CA2341739305 | PPP2R1A | c.719A= (p.Asn240=) c.62A= (p.Asn21=) n.543A= c.641A= (p.Asn214=) n.752A= c.575A= (p.Asn192=) c.599A= (p.Asn200=) n.290A= n.793A= | |
| 19 | g.52212781A>C | CA407183869 | PPP2R1A | c.719A>C (p.Asn240Thr) c.62A>C (p.Asn21Thr) n.543A>C c.641A>C (p.Asn214Thr) n.752A>C c.575A>C (p.Asn192Thr) c.599A>C (p.Asn200Thr) n.290A>C n.793A>C | |
| 19 | g.52212781A>G | CA9621373 | PPP2R1A | c.719A>G (p.Asn240Ser) c.62A>G (p.Asn21Ser) n.543A>G c.641A>G (p.Asn214Ser) n.752A>G c.575A>G (p.Asn192Ser) c.599A>G (p.Asn200Ser) n.290A>G n.793A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.52212781A>T | CA407183874 | PPP2R1A | c.719A>T (p.Asn240Ile) c.62A>T (p.Asn21Ile) n.543A>T c.641A>T (p.Asn214Ile) n.752A>T c.575A>T (p.Asn192Ile) c.599A>T (p.Asn200Ile) n.290A>T n.793A>T | dbSNP |
| 19 | g.52212782C>A | CA407183880 | PPP2R1A | c.720C>A (p.Asn240Lys) c.63C>A (p.Asn21Lys) n.544C>A c.642C>A (p.Asn214Lys) n.753C>A c.576C>A (p.Asn192Lys) c.600C>A (p.Asn200Lys) n.291C>A n.794C>A | |
| 19 | g.52212782C= | CA2341739306 | PPP2R1A | c.720C= (p.Asn240=) c.63C= (p.Asn21=) n.544C= c.642C= (p.Asn214=) n.753C= c.576C= (p.Asn192=) c.600C= (p.Asn200=) n.291C= n.794C= | |
| 19 | g.52212782C>G | CA407183878 | PPP2R1A | c.720C>G (p.Asn240Lys) c.63C>G (p.Asn21Lys) n.544C>G c.642C>G (p.Asn214Lys) n.753C>G c.576C>G (p.Asn192Lys) c.600C>G (p.Asn200Lys) n.291C>G n.794C>G | dbSNP |
| 19 | g.52212782C>T | CA9621374 | PPP2R1A | c.720C>T (p.Asn240=) c.63C>T (p.Asn21=) n.544C>T c.642C>T (p.Asn214=) n.753C>T c.576C>T (p.Asn192=) c.600C>T (p.Asn200=) n.291C>T n.794C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.52212783G>A | CA9621375 | PPP2R1A | c.721G>A (p.Val241Ile) c.64G>A (p.Val22Ile) n.545G>A c.643G>A (p.Val215Ile) n.754G>A c.577G>A (p.Val193Ile) c.601G>A (p.Val201Ile) n.292G>A n.795G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.52212783G>C | CA407183885 | PPP2R1A | c.721G>C (p.Val241Leu) c.64G>C (p.Val22Leu) n.545G>C c.643G>C (p.Val215Leu) n.754G>C c.577G>C (p.Val193Leu) c.601G>C (p.Val201Leu) n.292G>C n.795G>C | dbSNP gnomAD v4 |
| 19 | g.52212783G= | CA2341739307 | PPP2R1A | c.721G= (p.Val241=) c.64G= (p.Val22=) n.545G= c.643G= (p.Val215=) n.754G= c.577G= (p.Val193=) c.601G= (p.Val201=) n.292G= n.795G= | |
| 19 | g.52212783G>T | CA407183887 | PPP2R1A | c.721G>T (p.Val241Phe) c.64G>T (p.Val22Phe) n.545G>T c.643G>T (p.Val215Phe) n.754G>T c.577G>T (p.Val193Phe) c.601G>T (p.Val201Phe) n.292G>T n.795G>T | dbSNP |
| 19 | g.52212784T>A | CA407183889 | PPP2R1A | c.722T>A (p.Val241Asp) c.65T>A (p.Val22Asp) n.546T>A c.644T>A (p.Val215Asp) n.755T>A c.578T>A (p.Val193Asp) c.602T>A (p.Val201Asp) n.293T>A n.796T>A | dbSNP |
| 19 | g.52212784T>C | CA407183891 | PPP2R1A | c.722T>C (p.Val241Ala) c.65T>C (p.Val22Ala) n.546T>C c.644T>C (p.Val215Ala) n.755T>C c.578T>C (p.Val193Ala) c.602T>C (p.Val201Ala) n.293T>C n.796T>C | dbSNP gnomAD v4 |
| 19 | g.52212784T>G | CA407183894 | PPP2R1A | c.722T>G (p.Val241Gly) c.65T>G (p.Val22Gly) n.546T>G c.644T>G (p.Val215Gly) n.755T>G c.578T>G (p.Val193Gly) c.602T>G (p.Val201Gly) n.293T>G n.796T>G | dbSNP |
| 19 | g.52212785C>A | CA508826467 | PPP2R1A | c.723C>A (p.Val241=) c.66C>A (p.Val22=) n.547C>A c.645C>A (p.Val215=) n.756C>A c.579C>A (p.Val193=) c.603C>A (p.Val201=) n.294C>A n.797C>A | dbSNP |
| 19 | g.52212785C>G | CA508826468 | PPP2R1A | c.723C>G (p.Val241=) c.66C>G (p.Val22=) n.547C>G c.645C>G (p.Val215=) n.756C>G c.579C>G (p.Val193=) c.603C>G (p.Val201=) n.294C>G n.797C>G | dbSNP |
| 19 | g.52212785C>T | CA508826469 | PPP2R1A | c.723C>T (p.Val241=) c.66C>T (p.Val22=) n.547C>T c.645C>T (p.Val215=) n.756C>T c.579C>T (p.Val193=) c.603C>T (p.Val201=) n.294C>T n.797C>T | dbSNP |
| 19 | g.52212786A= | CA2341739308 | PPP2R1A | c.724A= (p.Lys242=) c.67A= (p.Lys23=) n.548A= c.646A= (p.Lys216=) n.757A= c.580A= (p.Lys194=) c.604A= (p.Lys202=) n.295A= n.798A= | |
| 19 | g.52212786A>C | CA9621376 | PPP2R1A | c.724A>C (p.Lys242Gln) c.67A>C (p.Lys23Gln) n.548A>C c.646A>C (p.Lys216Gln) n.757A>C c.580A>C (p.Lys194Gln) c.604A>C (p.Lys202Gln) n.295A>C n.798A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.52212786A>G | CA407183899 | PPP2R1A | c.724A>G (p.Lys242Glu) c.67A>G (p.Lys23Glu) n.548A>G c.646A>G (p.Lys216Glu) n.757A>G c.580A>G (p.Lys194Glu) c.604A>G (p.Lys202Glu) n.295A>G n.798A>G | dbSNP |
| 19 | g.52212786A>T | CA407183896 | PPP2R1A | c.724A>T (p.Lys242Ter) c.67A>T (p.Lys23Ter) n.548A>T c.646A>T (p.Lys216Ter) n.757A>T c.580A>T (p.Lys194Ter) c.604A>T (p.Lys202Ter) n.295A>T n.798A>T | dbSNP |
| 19 | g.52212787A= | CA2341739309 | PPP2R1A | c.725A= (p.Lys242=) c.68A= (p.Lys23=) n.549A= c.647A= (p.Lys216=) n.758A= c.581A= (p.Lys194=) c.605A= (p.Lys202=) n.296A= n.799A= | |
| 19 | g.52212787A>C | CA407183902 | PPP2R1A | c.725A>C (p.Lys242Thr) c.68A>C (p.Lys23Thr) n.549A>C c.647A>C (p.Lys216Thr) n.758A>C c.581A>C (p.Lys194Thr) c.605A>C (p.Lys202Thr) n.296A>C n.799A>C | |
| 19 | g.52212787A>G | CA407183904 | PPP2R1A | c.725A>G (p.Lys242Arg) c.68A>G (p.Lys23Arg) n.549A>G c.647A>G (p.Lys216Arg) n.758A>G c.581A>G (p.Lys194Arg) c.605A>G (p.Lys202Arg) n.296A>G n.799A>G | dbSNP gnomAD v2 |
| 19 | g.52212787A>T | CA407183906 | PPP2R1A | c.725A>T (p.Lys242Met) c.68A>T (p.Lys23Met) n.549A>T c.647A>T (p.Lys216Met) n.758A>T c.581A>T (p.Lys194Met) c.605A>T (p.Lys202Met) n.296A>T n.799A>T | dbSNP |
| 19 | g.52212788G>A | CA9621377 | PPP2R1A | c.726G>A (p.Lys242=) c.69G>A (p.Lys23=) n.550G>A c.648G>A (p.Lys216=) n.759G>A c.582G>A (p.Lys194=) c.606G>A (p.Lys202=) n.297G>A n.800G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.52212788G>C | CA407183908 | PPP2R1A | c.726G>C (p.Lys242Asn) c.69G>C (p.Lys23Asn) n.550G>C c.648G>C (p.Lys216Asn) n.759G>C c.582G>C (p.Lys194Asn) c.606G>C (p.Lys202Asn) n.297G>C n.800G>C | dbSNP |
| 19 | g.52212788G= | CA2341739310 | PPP2R1A | c.726G= (p.Lys242=) c.69G= (p.Lys23=) n.550G= c.648G= (p.Lys216=) n.759G= c.582G= (p.Lys194=) c.606G= (p.Lys202=) n.297G= n.800G= | |
| 19 | g.52212788G>T | CA407183909 | PPP2R1A | c.726G>T (p.Lys242Asn) c.69G>T (p.Lys23Asn) n.550G>T c.648G>T (p.Lys216Asn) n.759G>T c.582G>T (p.Lys194Asn) c.606G>T (p.Lys202Asn) n.297G>T n.800G>T | dbSNP |
| 19 | g.52212789A= | CA2341739311 | PPP2R1A | c.727A= (p.Ser243=) c.70A= (p.Ser24=) n.551A= c.649A= (p.Ser217=) n.760A= c.583A= (p.Ser195=) c.607A= (p.Ser203=) n.298A= n.801A= | |
| 19 | g.52212789A>C | CA407183912 | PPP2R1A | c.727A>C (p.Ser243Arg) c.70A>C (p.Ser24Arg) n.551A>C c.649A>C (p.Ser217Arg) n.760A>C c.583A>C (p.Ser195Arg) c.607A>C (p.Ser203Arg) n.298A>C n.801A>C | |
| 19 | g.52212789A>G | CA407183914 | PPP2R1A | c.727A>G (p.Ser243Gly) c.70A>G (p.Ser24Gly) n.551A>G c.649A>G (p.Ser217Gly) n.760A>G c.583A>G (p.Ser195Gly) c.607A>G (p.Ser203Gly) n.298A>G n.801A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.52212789A>T | CA9621378 | PPP2R1A | c.727A>T (p.Ser243Cys) c.70A>T (p.Ser24Cys) n.551A>T c.649A>T (p.Ser217Cys) n.760A>T c.583A>T (p.Ser195Cys) c.607A>T (p.Ser203Cys) n.298A>T n.801A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.52212790G>A | CA407183917 | PPP2R1A | c.728G>A (p.Ser243Asn) c.71G>A (p.Ser24Asn) n.552G>A c.650G>A (p.Ser217Asn) n.761G>A c.584G>A (p.Ser195Asn) c.608G>A (p.Ser203Asn) n.299G>A n.802G>A | dbSNP gnomAD v4 |
| 19 | g.52212790G>C | CA407183920 | PPP2R1A | c.728G>C (p.Ser243Thr) c.71G>C (p.Ser24Thr) n.552G>C c.650G>C (p.Ser217Thr) n.761G>C c.584G>C (p.Ser195Thr) c.608G>C (p.Ser203Thr) n.299G>C n.802G>C | dbSNP |
| 19 | g.52212790G>T | CA407183922 | PPP2R1A | c.728G>T (p.Ser243Ile) c.71G>T (p.Ser24Ile) n.552G>T c.650G>T (p.Ser217Ile) n.761G>T c.584G>T (p.Ser195Ile) c.608G>T (p.Ser203Ile) n.299G>T n.802G>T | |
| 19 | g.52212791T>A | CA407183928 | PPP2R1A | c.729T>A (p.Ser243Arg) c.72T>A (p.Ser24Arg) n.553T>A c.651T>A (p.Ser217Arg) n.762T>A c.585T>A (p.Ser195Arg) c.609T>A (p.Ser203Arg) n.300T>A n.803T>A | dbSNP |
| 19 | g.52212791T>C | CA9621379 | PPP2R1A | c.729T>C (p.Ser243=) c.72T>C (p.Ser24=) n.553T>C c.651T>C (p.Ser217=) n.762T>C c.585T>C (p.Ser195=) c.609T>C (p.Ser203=) n.300T>C n.803T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.52212791T>G | CA407183926 | PPP2R1A | c.729T>G (p.Ser243Arg) c.72T>G (p.Ser24Arg) n.553T>G c.651T>G (p.Ser217Arg) n.762T>G c.585T>G (p.Ser195Arg) c.609T>G (p.Ser203Arg) n.300T>G n.803T>G | dbSNP gnomAD v4 |
| 19 | g.52212791T= | CA2341739312 | PPP2R1A | c.729T= (p.Ser243=) c.72T= (p.Ser24=) n.553T= c.651T= (p.Ser217=) n.762T= c.585T= (p.Ser195=) c.609T= (p.Ser203=) n.300T= n.803T= | |
| 19 | g.52212792G>A | CA407183930 | PPP2R1A | c.730G>A (p.Glu244Lys) c.73G>A (p.Glu25Lys) n.554G>A c.652G>A (p.Glu218Lys) n.763G>A c.586G>A (p.Glu196Lys) c.610G>A (p.Glu204Lys) n.301G>A n.804G>A | dbSNP |
| 19 | g.52212792G>C | CA407183929 | PPP2R1A | c.730G>C (p.Glu244Gln) c.73G>C (p.Glu25Gln) n.554G>C c.652G>C (p.Glu218Gln) n.763G>C c.586G>C (p.Glu196Gln) c.610G>C (p.Glu204Gln) n.301G>C n.804G>C | dbSNP |
| 19 | g.52212792G>T | CA407183932 | PPP2R1A | c.730G>T (p.Glu244Ter) c.73G>T (p.Glu25Ter) n.554G>T c.652G>T (p.Glu218Ter) n.763G>T c.586G>T (p.Glu196Ter) c.610G>T (p.Glu204Ter) n.301G>T n.804G>T | |
| 19 | g.52212793A>C | CA407183936 | PPP2R1A | c.731A>C (p.Glu244Ala) c.74A>C (p.Glu25Ala) n.555A>C c.653A>C (p.Glu218Ala) n.764A>C c.587A>C (p.Glu196Ala) c.611A>C (p.Glu204Ala) n.302A>C n.805A>C | |
| 19 | g.52212793A>G | CA407183941 | PPP2R1A | c.731A>G (p.Glu244Gly) c.74A>G (p.Glu25Gly) n.555A>G c.653A>G (p.Glu218Gly) n.764A>G c.587A>G (p.Glu196Gly) c.611A>G (p.Glu204Gly) n.302A>G n.805A>G | dbSNP |
| 19 | g.52212793A>T | CA407183938 | PPP2R1A | c.731A>T (p.Glu244Val) c.74A>T (p.Glu25Val) n.555A>T c.653A>T (p.Glu218Val) n.764A>T c.587A>T (p.Glu196Val) c.611A>T (p.Glu204Val) n.302A>T n.805A>T | dbSNP |
| 19 | g.52212794G>A | CA508826475 | PPP2R1A | c.732G>A (p.Glu244=) c.75G>A (p.Glu25=) n.556G>A c.654G>A (p.Glu218=) n.765G>A c.588G>A (p.Glu196=) c.612G>A (p.Glu204=) n.303G>A n.806G>A | dbSNP gnomAD v4 |
| 19 | g.52212794G>C | CA407183942 | PPP2R1A | c.732G>C (p.Glu244Asp) c.75G>C (p.Glu25Asp) n.556G>C c.654G>C (p.Glu218Asp) n.765G>C c.588G>C (p.Glu196Asp) c.612G>C (p.Glu204Asp) n.303G>C n.806G>C | dbSNP |
| 19 | g.52212794G>T | CA407183945 | PPP2R1A | c.732G>T (p.Glu244Asp) c.75G>T (p.Glu25Asp) n.556G>T c.654G>T (p.Glu218Asp) n.765G>T c.588G>T (p.Glu196Asp) c.612G>T (p.Glu204Asp) n.303G>T n.806G>T | dbSNP |
| 19 | g.52212795A= | CA2341739313 | PPP2R1A | c.733A= (p.Ile245=) c.76A= (p.Ile26=) n.557A= c.655A= (p.Ile219=) n.766A= c.589A= (p.Ile197=) c.613A= (p.Ile205=) n.304A= n.807A= | |
| 19 | g.52212795A>C | CA407183947 | PPP2R1A | c.733A>C (p.Ile245Leu) c.76A>C (p.Ile26Leu) n.557A>C c.655A>C (p.Ile219Leu) n.766A>C c.589A>C (p.Ile197Leu) c.613A>C (p.Ile205Leu) n.304A>C n.807A>C | dbSNP |
| 19 | g.52212795A>G | CA407183950 | PPP2R1A | c.733A>G (p.Ile245Val) c.76A>G (p.Ile26Val) n.557A>G c.655A>G (p.Ile219Val) n.766A>G c.589A>G (p.Ile197Val) c.613A>G (p.Ile205Val) n.304A>G n.807A>G | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.52212795A>T | CA407183952 | PPP2R1A | c.733A>T (p.Ile245Phe) c.76A>T (p.Ile26Phe) n.557A>T c.655A>T (p.Ile219Phe) n.766A>T c.589A>T (p.Ile197Phe) c.613A>T (p.Ile205Phe) n.304A>T n.807A>T | dbSNP |
| 19 | g.52212796T>A | CA407183954 | PPP2R1A | c.734T>A (p.Ile245Asn) c.77T>A (p.Ile26Asn) n.558T>A c.656T>A (p.Ile219Asn) n.767T>A c.590T>A (p.Ile197Asn) c.614T>A (p.Ile205Asn) n.305T>A n.808T>A | dbSNP |
| 19 | g.52212796T>C | CA407183956 | PPP2R1A | c.734T>C (p.Ile245Thr) c.77T>C (p.Ile26Thr) n.558T>C c.656T>C (p.Ile219Thr) n.767T>C c.590T>C (p.Ile197Thr) c.614T>C (p.Ile205Thr) n.305T>C n.808T>C | dbSNP gnomAD v4 |
| 19 | g.52212796T>G | CA407183958 | PPP2R1A | c.734T>G (p.Ile245Ser) c.77T>G (p.Ile26Ser) n.558T>G c.656T>G (p.Ile219Ser) n.767T>G c.590T>G (p.Ile197Ser) c.614T>G (p.Ile205Ser) n.305T>G n.808T>G | dbSNP |
| 19 | g.52212797C>A | CA508826476 | PPP2R1A | c.735C>A (p.Ile245=) c.78C>A (p.Ile26=) n.559C>A c.657C>A (p.Ile219=) n.768C>A c.591C>A (p.Ile197=) c.615C>A (p.Ile205=) n.306C>A n.809C>A | dbSNP |
| 19 | g.52212797C>G | CA407183960 | PPP2R1A | c.735C>G (p.Ile245Met) c.78C>G (p.Ile26Met) n.559C>G c.657C>G (p.Ile219Met) n.768C>G c.591C>G (p.Ile197Met) c.615C>G (p.Ile205Met) n.306C>G n.809C>G | dbSNP |
| 19 | g.52212797C>T | CA508826477 | PPP2R1A | c.735C>T (p.Ile245=) c.78C>T (p.Ile26=) n.559C>T c.657C>T (p.Ile219=) n.768C>T c.591C>T (p.Ile197=) c.615C>T (p.Ile205=) n.306C>T n.809C>T | dbSNP COSMIC |
| 19 | g.52212798A>C | CA407183963 | PPP2R1A | c.736A>C (p.Ile246Leu) c.79A>C (p.Ile27Leu) n.560A>C c.658A>C (p.Ile220Leu) n.769A>C c.592A>C (p.Ile198Leu) c.616A>C (p.Ile206Leu) n.307A>C n.810A>C | dbSNP |
| 19 | g.52212798A>G | CA407183966 | PPP2R1A | c.736A>G (p.Ile246Val) c.79A>G (p.Ile27Val) n.560A>G c.658A>G (p.Ile220Val) n.769A>G c.592A>G (p.Ile198Val) c.616A>G (p.Ile206Val) n.307A>G n.810A>G | dbSNP |
| 19 | g.52212798A>T | CA407183968 | PPP2R1A | c.736A>T (p.Ile246Phe) c.79A>T (p.Ile27Phe) n.560A>T c.658A>T (p.Ile220Phe) n.769A>T c.592A>T (p.Ile198Phe) c.616A>T (p.Ile206Phe) n.307A>T n.810A>T | dbSNP |
| 19 | g.52212799T>A | CA407183970 | PPP2R1A | c.737T>A (p.Ile246Asn) c.80T>A (p.Ile27Asn) n.561T>A c.659T>A (p.Ile220Asn) n.770T>A c.593T>A (p.Ile198Asn) c.617T>A (p.Ile206Asn) n.308T>A n.811T>A | |
| 19 | g.52212799T>C | CA407183975 | PPP2R1A | c.737T>C (p.Ile246Thr) c.80T>C (p.Ile27Thr) n.561T>C c.659T>C (p.Ile220Thr) n.770T>C c.593T>C (p.Ile198Thr) c.617T>C (p.Ile206Thr) n.308T>C n.811T>C | |
| 19 | g.52212799T>G | CA407183973 | PPP2R1A | c.737T>G (p.Ile246Ser) c.80T>G (p.Ile27Ser) n.561T>G c.659T>G (p.Ile220Ser) n.770T>G c.593T>G (p.Ile198Ser) c.617T>G (p.Ile206Ser) n.308T>G n.811T>G | |
| 19 | g.52212800C>A | CA309865928 | PPP2R1A | c.738C>A (p.Ile246=) c.81C>A (p.Ile27=) n.562C>A c.660C>A (p.Ile220=) n.771C>A c.594C>A (p.Ile198=) c.618C>A (p.Ile206=) n.309C>A n.812C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.52212800C= | CA2341739314 | PPP2R1A | c.738C= (p.Ile246=) c.81C= (p.Ile27=) n.562C= c.660C= (p.Ile220=) n.771C= c.594C= (p.Ile198=) c.618C= (p.Ile206=) n.309C= n.812C= | |
| 19 | g.52212800C>G | CA407183977 | PPP2R1A | c.738C>G (p.Ile246Met) c.81C>G (p.Ile27Met) n.562C>G c.660C>G (p.Ile220Met) n.771C>G c.594C>G (p.Ile198Met) c.618C>G (p.Ile206Met) n.309C>G n.812C>G | dbSNP |
| 19 | g.52212800C>T | CA508826478 | PPP2R1A | c.738C>T (p.Ile246=) c.81C>T (p.Ile27=) n.562C>T c.660C>T (p.Ile220=) n.771C>T c.594C>T (p.Ile198=) c.618C>T (p.Ile206=) n.309C>T n.812C>T | dbSNP |
| 19 | g.52212801C>A | CA407183980 | PPP2R1A | c.739C>A (p.Pro247Thr) c.82C>A (p.Pro28Thr) n.563C>A c.661C>A (p.Pro221Thr) n.772C>A c.595C>A (p.Pro199Thr) c.619C>A (p.Pro207Thr) n.310C>A n.813C>A | dbSNP |
| 19 | g.52212801C>G | CA407183983 | PPP2R1A | c.739C>G (p.Pro247Ala) c.82C>G (p.Pro28Ala) n.563C>G c.661C>G (p.Pro221Ala) n.772C>G c.595C>G (p.Pro199Ala) c.619C>G (p.Pro207Ala) n.310C>G n.813C>G | dbSNP |
| 19 | g.52212801C>T | CA407183986 | PPP2R1A | c.739C>T (p.Pro247Ser) c.82C>T (p.Pro28Ser) n.563C>T c.661C>T (p.Pro221Ser) n.772C>T c.595C>T (p.Pro199Ser) c.619C>T (p.Pro207Ser) n.310C>T n.813C>T | dbSNP |
| 19 | g.52212802C>A | CA407183988 | PPP2R1A | c.740C>A (p.Pro247His) c.83C>A (p.Pro28His) n.564C>A c.662C>A (p.Pro221His) n.773C>A c.596C>A (p.Pro199His) c.620C>A (p.Pro207His) n.311C>A n.814C>A | dbSNP |
| 19 | g.52212802C>G | CA407183990 | PPP2R1A | c.740C>G (p.Pro247Arg) c.83C>G (p.Pro28Arg) n.564C>G c.662C>G (p.Pro221Arg) n.773C>G c.596C>G (p.Pro199Arg) c.620C>G (p.Pro207Arg) n.311C>G n.814C>G | dbSNP |
| 19 | g.52212802C>T | CA407183995 | PPP2R1A | c.740C>T (p.Pro247Leu) c.83C>T (p.Pro28Leu) n.564C>T c.662C>T (p.Pro221Leu) n.773C>T c.596C>T (p.Pro199Leu) c.620C>T (p.Pro207Leu) n.311C>T n.814C>T | dbSNP |
| 19 | g.52212803C>A | CA508826479 | PPP2R1A | c.741C>A (p.Pro247=) c.84C>A (p.Pro28=) n.565C>A c.663C>A (p.Pro221=) n.774C>A c.597C>A (p.Pro199=) c.621C>A (p.Pro207=) n.312C>A n.815C>A | dbSNP |
| 19 | g.52212803C>G | CA508826480 | PPP2R1A | c.741C>G (p.Pro247=) c.84C>G (p.Pro28=) n.565C>G c.663C>G (p.Pro221=) n.774C>G c.597C>G (p.Pro199=) c.621C>G (p.Pro207=) n.312C>G n.815C>G | dbSNP |
| 19 | g.52212803C>T | CA508826481 | PPP2R1A | c.741C>T (p.Pro247=) c.84C>T (p.Pro28=) n.565C>T c.663C>T (p.Pro221=) n.774C>T c.597C>T (p.Pro199=) c.621C>T (p.Pro207=) n.312C>T n.815C>T | dbSNP |
| 19 | g.52212804A= | CA2341739315 | PPP2R1A | c.742A= (p.Met248=) c.85A= (p.Met29=) n.566A= c.664A= (p.Met222=) n.775A= c.598A= (p.Met200=) c.622A= (p.Met208=) n.313A= n.816A= | |
| 19 | g.52212804A>C | CA407183998 | PPP2R1A | c.742A>C (p.Met248Leu) c.85A>C (p.Met29Leu) n.566A>C c.664A>C (p.Met222Leu) n.775A>C c.598A>C (p.Met200Leu) c.622A>C (p.Met208Leu) n.313A>C n.816A>C | |
| 19 | g.52212804A>G | CA407183999 | PPP2R1A | c.742A>G (p.Met248Val) c.85A>G (p.Met29Val) n.566A>G c.664A>G (p.Met222Val) n.775A>G c.598A>G (p.Met200Val) c.622A>G (p.Met208Val) n.313A>G n.816A>G | dbSNP gnomAD v4 |
| 19 | g.52212804A>T | CA407184002 | PPP2R1A | c.742A>T (p.Met248Leu) c.85A>T (p.Met29Leu) n.566A>T c.664A>T (p.Met222Leu) n.775A>T c.598A>T (p.Met200Leu) c.622A>T (p.Met208Leu) n.313A>T n.816A>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.52212805T>A | CA407184007 | PPP2R1A | c.743T>A (p.Met248Lys) c.86T>A (p.Met29Lys) n.567T>A c.665T>A (p.Met222Lys) n.776T>A c.599T>A (p.Met200Lys) c.623T>A (p.Met208Lys) n.314T>A n.817T>A | dbSNP |
| 19 | g.52212805T>C | CA407184010 | PPP2R1A | c.743T>C (p.Met248Thr) c.86T>C (p.Met29Thr) n.567T>C c.665T>C (p.Met222Thr) n.776T>C c.599T>C (p.Met200Thr) c.623T>C (p.Met208Thr) n.314T>C n.817T>C | dbSNP gnomAD v4 |
| 19 | g.52212805T>G | CA407184005 | PPP2R1A | c.743T>G (p.Met248Arg) c.86T>G (p.Met29Arg) n.567T>G c.665T>G (p.Met222Arg) n.776T>G c.599T>G (p.Met200Arg) c.623T>G (p.Met208Arg) n.314T>G n.817T>G | dbSNP |
| 19 | g.52212806G>A | CA407184013 | PPP2R1A | c.744G>A (p.Met248Ile) c.87G>A (p.Met29Ile) n.568G>A c.666G>A (p.Met222Ile) n.777G>A c.600G>A (p.Met200Ile) c.624G>A (p.Met208Ile) n.315G>A n.818G>A | dbSNP |
| 19 | g.52212806G>C | CA407184016 | PPP2R1A | c.744G>C (p.Met248Ile) c.87G>C (p.Met29Ile) n.568G>C c.666G>C (p.Met222Ile) n.777G>C c.600G>C (p.Met200Ile) c.624G>C (p.Met208Ile) n.315G>C n.818G>C | |
| 19 | g.52212806G>T | CA407184017 | PPP2R1A | c.744G>T (p.Met248Ile) c.87G>T (p.Met29Ile) n.568G>T c.666G>T (p.Met222Ile) n.777G>T c.600G>T (p.Met200Ile) c.624G>T (p.Met208Ile) n.315G>T n.818G>T | |
| 19 | g.52212807T>A | CA407184020 | PPP2R1A | c.745T>A (p.Phe249Ile) c.88T>A (p.Phe30Ile) n.569T>A c.667T>A (p.Phe223Ile) n.778T>A c.601T>A (p.Phe201Ile) c.625T>A (p.Phe209Ile) n.316T>A n.819T>A | dbSNP |
| 19 | g.52212807T>C | CA9621380 | PPP2R1A | c.745T>C (p.Phe249Leu) c.88T>C (p.Phe30Leu) n.569T>C c.667T>C (p.Phe223Leu) n.778T>C c.601T>C (p.Phe201Leu) c.625T>C (p.Phe209Leu) n.316T>C n.819T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.52212807T>G | CA407184024 | PPP2R1A | c.745T>G (p.Phe249Val) c.88T>G (p.Phe30Val) n.569T>G c.667T>G (p.Phe223Val) n.778T>G c.601T>G (p.Phe201Val) c.625T>G (p.Phe209Val) n.316T>G n.819T>G | dbSNP |
| 19 | g.52212807T= | CA2341739316 | PPP2R1A | c.745T= (p.Phe249=) c.88T= (p.Phe30=) n.569T= c.667T= (p.Phe223=) n.778T= c.601T= (p.Phe201=) c.625T= (p.Phe209=) n.316T= n.819T= | |
| 19 | g.52212808T>A | CA407184030 | PPP2R1A | c.746T>A (p.Phe249Tyr) c.89T>A (p.Phe30Tyr) n.570T>A c.668T>A (p.Phe223Tyr) n.779T>A c.602T>A (p.Phe201Tyr) c.626T>A (p.Phe209Tyr) n.317T>A n.820T>A | dbSNP |
| 19 | g.52212808T>C | CA407184026 | PPP2R1A | c.746T>C (p.Phe249Ser) c.89T>C (p.Phe30Ser) n.570T>C c.668T>C (p.Phe223Ser) n.779T>C c.602T>C (p.Phe201Ser) c.626T>C (p.Phe209Ser) n.317T>C n.820T>C | dbSNP |
| 19 | g.52212808T>G | CA407184029 | PPP2R1A | c.746T>G (p.Phe249Cys) c.89T>G (p.Phe30Cys) n.570T>G c.668T>G (p.Phe223Cys) n.779T>G c.602T>G (p.Phe201Cys) c.626T>G (p.Phe209Cys) n.317T>G n.820T>G | |
| 19 | g.52212809C>A | CA407184034 | PPP2R1A | c.747C>A (p.Phe249Leu) c.90C>A (p.Phe30Leu) n.571C>A c.669C>A (p.Phe223Leu) n.780C>A c.603C>A (p.Phe201Leu) c.627C>A (p.Phe209Leu) n.318C>A n.821C>A | dbSNP |
| 19 | g.52212809C>G | CA407184035 | PPP2R1A | c.747C>G (p.Phe249Leu) c.90C>G (p.Phe30Leu) n.571C>G c.669C>G (p.Phe223Leu) n.780C>G c.603C>G (p.Phe201Leu) c.627C>G (p.Phe209Leu) n.318C>G n.821C>G | dbSNP |
| 19 | g.52212809C>T | CA508826485 | PPP2R1A | c.747C>T (p.Phe249=) c.90C>T (p.Phe30=) n.571C>T c.669C>T (p.Phe223=) n.780C>T c.603C>T (p.Phe201=) c.627C>T (p.Phe209=) n.318C>T n.821C>T | dbSNP |
| 19 | g.52212810T>A | CA407184038 | PPP2R1A | c.748T>A (p.Ser250Thr) c.91T>A (p.Ser31Thr) n.572T>A c.670T>A (p.Ser224Thr) n.781T>A c.604T>A (p.Ser202Thr) c.628T>A (p.Ser210Thr) n.319T>A n.822T>A | |
| 19 | g.52212810T>C | CA407184041 | PPP2R1A | c.748T>C (p.Ser250Pro) c.91T>C (p.Ser31Pro) n.572T>C c.670T>C (p.Ser224Pro) n.781T>C c.604T>C (p.Ser202Pro) c.628T>C (p.Ser210Pro) n.319T>C n.822T>C | |
| 19 | g.52212810T>G | CA407184044 | PPP2R1A | c.748T>G (p.Ser250Ala) c.91T>G (p.Ser31Ala) n.572T>G c.670T>G (p.Ser224Ala) n.781T>G c.604T>G (p.Ser202Ala) c.628T>G (p.Ser210Ala) n.319T>G n.822T>G | |
| 19 | g.52212811C>A | CA407184046 | PPP2R1A | c.749C>A (p.Ser250Tyr) c.92C>A (p.Ser31Tyr) n.573C>A c.671C>A (p.Ser224Tyr) n.782C>A c.605C>A (p.Ser202Tyr) c.629C>A (p.Ser210Tyr) n.320C>A n.823C>A | dbSNP |
| 19 | g.52212811C>G | CA407184050 | PPP2R1A | c.749C>G (p.Ser250Cys) c.92C>G (p.Ser31Cys) n.573C>G c.671C>G (p.Ser224Cys) n.782C>G c.605C>G (p.Ser202Cys) c.629C>G (p.Ser210Cys) n.320C>G n.823C>G | dbSNP gnomAD v4 |
| 19 | g.52212811C>T | CA407184049 | PPP2R1A | c.749C>T (p.Ser250Phe) c.92C>T (p.Ser31Phe) n.573C>T c.671C>T (p.Ser224Phe) n.782C>T c.605C>T (p.Ser202Phe) c.629C>T (p.Ser210Phe) n.320C>T n.823C>T | dbSNP |
| 19 | g.52212812C>A | CA508826489 | PPP2R1A | c.750C>A (p.Ser250=) c.93C>A (p.Ser31=) n.574C>A c.672C>A (p.Ser224=) n.783C>A c.606C>A (p.Ser202=) c.630C>A (p.Ser210=) n.321C>A n.824C>A | |
| 19 | g.52212812C= | CA2341739317 | PPP2R1A | c.750C= (p.Ser250=) c.93C= (p.Ser31=) n.574C= c.672C= (p.Ser224=) n.783C= c.606C= (p.Ser202=) c.630C= (p.Ser210=) n.321C= n.824C= | |
| 19 | g.52212812C>G | CA508826490 | PPP2R1A | c.750C>G (p.Ser250=) c.93C>G (p.Ser31=) n.574C>G c.672C>G (p.Ser224=) n.783C>G c.606C>G (p.Ser202=) c.630C>G (p.Ser210=) n.321C>G n.824C>G | |
| 19 | g.52212812C>T | CA508826491 | PPP2R1A | c.750C>T (p.Ser250=) c.93C>T (p.Ser31=) n.574C>T c.672C>T (p.Ser224=) n.783C>T c.606C>T (p.Ser202=) c.630C>T (p.Ser210=) n.321C>T n.824C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.52212813A= | CA2341739318 | PPP2R1A | c.751A= (p.Asn251=) c.94A= (p.Asn32=) n.575A= c.673A= (p.Asn225=) n.784A= c.607A= (p.Asn203=) c.631A= (p.Asn211=) n.322A= n.825A= | |
| 19 | g.52212813A>C | CA407184052 | PPP2R1A | c.751A>C (p.Asn251His) c.94A>C (p.Asn32His) n.575A>C c.673A>C (p.Asn225His) n.784A>C c.607A>C (p.Asn203His) c.631A>C (p.Asn211His) n.322A>C n.825A>C | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.52212813A>G | CA407184053 | PPP2R1A | c.751A>G (p.Asn251Asp) c.94A>G (p.Asn32Asp) n.575A>G c.673A>G (p.Asn225Asp) n.784A>G c.607A>G (p.Asn203Asp) c.631A>G (p.Asn211Asp) n.322A>G n.825A>G | |
| 19 | g.52212813A>T | CA407184056 | PPP2R1A | c.751A>T (p.Asn251Tyr) c.94A>T (p.Asn32Tyr) n.575A>T c.673A>T (p.Asn225Tyr) n.784A>T c.607A>T (p.Asn203Tyr) c.631A>T (p.Asn211Tyr) n.322A>T n.825A>T | dbSNP |
| 19 | g.52212814A= | CA2341739319 | PPP2R1A | c.752A= (p.Asn251=) c.95A= (p.Asn32=) n.576A= c.674A= (p.Asn225=) n.785A= c.608A= (p.Asn203=) c.632A= (p.Asn211=) n.323A= n.826A= | |
| 19 | g.52212814A>C | CA407184059 | PPP2R1A | c.752A>C (p.Asn251Thr) c.95A>C (p.Asn32Thr) n.576A>C c.674A>C (p.Asn225Thr) n.785A>C c.608A>C (p.Asn203Thr) c.632A>C (p.Asn211Thr) n.323A>C n.826A>C | dbSNP |
| 19 | g.52212814A>G | CA9621381 | PPP2R1A | c.752A>G (p.Asn251Ser) c.95A>G (p.Asn32Ser) n.576A>G c.674A>G (p.Asn225Ser) n.785A>G c.608A>G (p.Asn203Ser) c.632A>G (p.Asn211Ser) n.323A>G n.826A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.52212814A>T | CA407184062 | PPP2R1A | c.752A>T (p.Asn251Ile) c.95A>T (p.Asn32Ile) n.576A>T c.674A>T (p.Asn225Ile) n.785A>T c.608A>T (p.Asn203Ile) c.632A>T (p.Asn211Ile) n.323A>T n.826A>T | dbSNP |
| 19 | g.52212815C>A | CA407184063 | PPP2R1A | c.753C>A (p.Asn251Lys) c.96C>A (p.Asn32Lys) n.577C>A c.675C>A (p.Asn225Lys) n.786C>A c.609C>A (p.Asn203Lys) c.633C>A (p.Asn211Lys) n.324C>A n.827C>A | dbSNP |
| 19 | g.52212815C>G | CA407184066 | PPP2R1A | c.753C>G (p.Asn251Lys) c.96C>G (p.Asn32Lys) n.577C>G c.675C>G (p.Asn225Lys) n.786C>G c.609C>G (p.Asn203Lys) c.633C>G (p.Asn211Lys) n.324C>G n.827C>G | dbSNP |
| 19 | g.52212815C>T | CA508826494 | PPP2R1A | c.753C>T (p.Asn251=) c.96C>T (p.Asn32=) n.577C>T c.675C>T (p.Asn225=) n.786C>T c.609C>T (p.Asn203=) c.633C>T (p.Asn211=) n.324C>T n.827C>T | dbSNP |
| 19 | g.52212816C>A | CA407184070 | PPP2R1A | c.754C>A (p.Leu252Met) c.97C>A (p.Leu33Met) n.578C>A c.676C>A (p.Leu226Met) n.787C>A c.610C>A (p.Leu204Met) c.634C>A (p.Leu212Met) n.325C>A n.828C>A | dbSNP |
| 19 | g.52212816C= | CA2341739320 | PPP2R1A | c.754C= (p.Leu252=) c.97C= (p.Leu33=) n.578C= c.676C= (p.Leu226=) n.787C= c.610C= (p.Leu204=) c.634C= (p.Leu212=) n.325C= n.828C= | |
| 19 | g.52212816C>G | CA407184072 | PPP2R1A | c.754C>G (p.Leu252Val) c.97C>G (p.Leu33Val) n.578C>G c.676C>G (p.Leu226Val) n.787C>G c.610C>G (p.Leu204Val) c.634C>G (p.Leu212Val) n.325C>G n.828C>G | dbSNP |
| 19 | g.52212816C>T | CA9621382 | PPP2R1A | c.754C>T (p.Leu252=) c.97C>T (p.Leu33=) n.578C>T c.676C>T (p.Leu226=) n.787C>T c.610C>T (p.Leu204=) c.634C>T (p.Leu212=) n.325C>T n.828C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.52212817T>A | CA407184085 | PPP2R1A | c.755T>A (p.Leu252Gln) c.98T>A (p.Leu33Gln) n.579T>A c.677T>A (p.Leu226Gln) n.788T>A c.611T>A (p.Leu204Gln) c.635T>A (p.Leu212Gln) n.326T>A n.829T>A | |
| 19 | g.52212817T>C | CA407184083 | PPP2R1A | c.755T>C (p.Leu252Pro) c.98T>C (p.Leu33Pro) n.579T>C c.677T>C (p.Leu226Pro) n.788T>C c.611T>C (p.Leu204Pro) c.635T>C (p.Leu212Pro) n.326T>C n.829T>C | |
| 19 | g.52212817T>G | CA407184076 | PPP2R1A | c.755T>G (p.Leu252Arg) c.98T>G (p.Leu33Arg) n.579T>G c.677T>G (p.Leu226Arg) n.788T>G c.611T>G (p.Leu204Arg) c.635T>G (p.Leu212Arg) n.326T>G n.829T>G | gnomAD v4 |
| 19 | g.52212818G>A | CA508826496 | PPP2R1A | c.756G>A (p.Leu252=) c.99G>A (p.Leu33=) n.580G>A c.678G>A (p.Leu226=) n.789G>A c.612G>A (p.Leu204=) c.636G>A (p.Leu212=) n.327G>A n.830G>A | dbSNP |
| 19 | g.52212818G>C | CA508826497 | PPP2R1A | c.756G>C (p.Leu252=) c.99G>C (p.Leu33=) n.580G>C c.678G>C (p.Leu226=) n.789G>C c.612G>C (p.Leu204=) c.636G>C (p.Leu212=) n.327G>C n.830G>C | dbSNP |
| 19 | g.52212818G>T | CA508826498 | PPP2R1A | c.756G>T (p.Leu252=) c.99G>T (p.Leu33=) n.580G>T c.678G>T (p.Leu226=) n.789G>T c.612G>T (p.Leu204=) c.636G>T (p.Leu212=) n.327G>T n.830G>T | |
| 19 | g.52212819G>A | CA407184088 | PPP2R1A | c.757G>A (p.Ala253Thr) c.100G>A (p.Ala34Thr) n.581G>A c.679G>A (p.Ala227Thr) n.790G>A c.613G>A (p.Ala205Thr) c.637G>A (p.Ala213Thr) n.328G>A n.831G>A | dbSNP |
| 19 | g.52212819G>C | CA407184089 | PPP2R1A | c.757G>C (p.Ala253Pro) c.100G>C (p.Ala34Pro) n.581G>C c.679G>C (p.Ala227Pro) n.790G>C c.613G>C (p.Ala205Pro) c.637G>C (p.Ala213Pro) n.328G>C n.831G>C | dbSNP |
| 19 | g.52212819G>T | CA407184091 | PPP2R1A | c.757G>T (p.Ala253Ser) c.100G>T (p.Ala34Ser) n.581G>T c.679G>T (p.Ala227Ser) n.790G>T c.613G>T (p.Ala205Ser) c.637G>T (p.Ala213Ser) n.328G>T n.831G>T | dbSNP |
| 19 | g.52212820C>A | CA407184092 | PPP2R1A | c.758C>A (p.Ala253Asp) c.101C>A (p.Ala34Asp) n.582C>A c.680C>A (p.Ala227Asp) n.791C>A c.614C>A (p.Ala205Asp) c.638C>A (p.Ala213Asp) n.329C>A n.832C>A | dbSNP |
| 19 | g.52212820C>G | CA407184094 | PPP2R1A | c.758C>G (p.Ala253Gly) c.101C>G (p.Ala34Gly) n.582C>G c.680C>G (p.Ala227Gly) n.791C>G c.614C>G (p.Ala205Gly) c.638C>G (p.Ala213Gly) n.329C>G n.832C>G | dbSNP |
| 19 | g.52212820C>T | CA407184097 | PPP2R1A | c.758C>T (p.Ala253Val) c.101C>T (p.Ala34Val) n.582C>T c.680C>T (p.Ala227Val) n.791C>T c.614C>T (p.Ala205Val) c.638C>T (p.Ala213Val) n.329C>T n.832C>T | dbSNP |
| 19 | g.52212821C>A | CA508826502 | PPP2R1A | c.759C>A (p.Ala253=) c.102C>A (p.Ala34=) n.583C>A c.681C>A (p.Ala227=) n.792C>A c.615C>A (p.Ala205=) c.639C>A (p.Ala213=) n.330C>A n.833C>A | dbSNP |
| 19 | g.52212821C>G | CA508826503 | PPP2R1A | c.759C>G (p.Ala253=) c.102C>G (p.Ala34=) n.583C>G c.681C>G (p.Ala227=) n.792C>G c.615C>G (p.Ala205=) c.639C>G (p.Ala213=) n.330C>G n.833C>G | dbSNP |
| 19 | g.52212821C>T | CA508826504 | PPP2R1A | c.759C>T (p.Ala253=) c.102C>T (p.Ala34=) n.583C>T c.681C>T (p.Ala227=) n.792C>T c.615C>T (p.Ala205=) c.639C>T (p.Ala213=) n.330C>T n.833C>T | dbSNP gnomAD v4 |
| 19 | g.52212822T>A | CA407184099 | PPP2R1A | c.760T>A (p.Ser254Thr) c.103T>A (p.Ser35Thr) n.584T>A c.682T>A (p.Ser228Thr) n.793T>A c.616T>A (p.Ser206Thr) c.640T>A (p.Ser214Thr) n.331T>A n.834T>A | dbSNP |
| 19 | g.52212822T>C | CA407184101 | PPP2R1A | c.760T>C (p.Ser254Pro) c.103T>C (p.Ser35Pro) n.584T>C c.682T>C (p.Ser228Pro) n.793T>C c.616T>C (p.Ser206Pro) c.640T>C (p.Ser214Pro) n.331T>C n.834T>C | ClinVar dbSNP |
| 19 | g.52212822T>G | CA407184103 | PPP2R1A | c.760T>G (p.Ser254Ala) c.103T>G (p.Ser35Ala) n.584T>G c.682T>G (p.Ser228Ala) n.793T>G c.616T>G (p.Ser206Ala) c.640T>G (p.Ser214Ala) n.331T>G n.834T>G | |
| 19 | g.52212823C>A | CA407184105 | PPP2R1A | c.761C>A (p.Ser254Tyr) c.104C>A (p.Ser35Tyr) n.585C>A c.683C>A (p.Ser228Tyr) n.794C>A c.617C>A (p.Ser206Tyr) c.641C>A (p.Ser214Tyr) n.332C>A n.835C>A | dbSNP |
| 19 | g.52212823C= | CA2341739321 | PPP2R1A | c.761C= (p.Ser254=) c.104C= (p.Ser35=) n.585C= c.683C= (p.Ser228=) n.794C= c.617C= (p.Ser206=) c.641C= (p.Ser214=) n.332C= n.835C= | |
| 19 | g.52212823C>G | CA407184108 | PPP2R1A | c.761C>G (p.Ser254Cys) c.104C>G (p.Ser35Cys) n.585C>G c.683C>G (p.Ser228Cys) n.794C>G c.617C>G (p.Ser206Cys) c.641C>G (p.Ser214Cys) n.332C>G n.835C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.52212823C>T | CA407184110 | PPP2R1A | c.761C>T (p.Ser254Phe) c.104C>T (p.Ser35Phe) n.585C>T c.683C>T (p.Ser228Phe) n.794C>T c.617C>T (p.Ser206Phe) c.641C>T (p.Ser214Phe) n.332C>T n.835C>T | dbSNP |
| 19 | g.52212824T>A | CA508826506 | PPP2R1A | c.762T>A (p.Ser254=) c.105T>A (p.Ser35=) n.586T>A c.684T>A (p.Ser228=) n.795T>A c.618T>A (p.Ser206=) c.642T>A (p.Ser214=) n.333T>A n.836T>A | dbSNP |
| 19 | g.52212824T>C | CA9621383 | PPP2R1A | c.762T>C (p.Ser254=) c.105T>C (p.Ser35=) n.586T>C c.684T>C (p.Ser228=) n.795T>C c.618T>C (p.Ser206=) c.642T>C (p.Ser214=) n.333T>C n.836T>C | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.52212824T>G | CA508826507 | PPP2R1A | c.762T>G (p.Ser254=) c.105T>G (p.Ser35=) n.586T>G c.684T>G (p.Ser228=) n.795T>G c.618T>G (p.Ser206=) c.642T>G (p.Ser214=) n.333T>G n.836T>G | |
| 19 | g.52212824T= | CA2341739322 | PPP2R1A | c.762T= (p.Ser254=) c.105T= (p.Ser35=) n.586T= c.684T= (p.Ser228=) n.795T= c.618T= (p.Ser206=) c.642T= (p.Ser214=) n.333T= n.836T= | |
| 19 | g.52212825G>A | CA407184118 | PPP2R1A | c.763G>A (p.Asp255Asn) c.106G>A (p.Asp36Asn) n.587G>A c.685G>A (p.Asp229Asn) n.796G>A c.619G>A (p.Asp207Asn) c.643G>A (p.Asp215Asn) n.334G>A n.837G>A | dbSNP |
| 19 | g.52212825G>C | CA407184116 | PPP2R1A | c.763G>C (p.Asp255His) c.106G>C (p.Asp36His) n.587G>C c.685G>C (p.Asp229His) n.796G>C c.619G>C (p.Asp207His) c.643G>C (p.Asp215His) n.334G>C n.837G>C | dbSNP COSMIC |
| 19 | g.52212825G>T | CA407184113 | PPP2R1A | c.763G>T (p.Asp255Tyr) c.106G>T (p.Asp36Tyr) n.587G>T c.685G>T (p.Asp229Tyr) n.796G>T c.619G>T (p.Asp207Tyr) c.643G>T (p.Asp215Tyr) n.334G>T n.837G>T | |
| 19 | g.52212826A>C | CA407184122 | PPP2R1A | c.764A>C (p.Asp255Ala) c.107A>C (p.Asp36Ala) n.588A>C c.686A>C (p.Asp229Ala) n.797A>C c.620A>C (p.Asp207Ala) c.644A>C (p.Asp215Ala) n.335A>C n.838A>C | dbSNP |
| 19 | g.52212826A>G | CA407184123 | PPP2R1A | c.764A>G (p.Asp255Gly) c.107A>G (p.Asp36Gly) n.588A>G c.686A>G (p.Asp229Gly) n.797A>G c.620A>G (p.Asp207Gly) c.644A>G (p.Asp215Gly) n.335A>G n.838A>G | dbSNP |
| 19 | g.52212826A>T | CA407184126 | PPP2R1A | c.764A>T (p.Asp255Val) c.107A>T (p.Asp36Val) n.588A>T c.686A>T (p.Asp229Val) n.797A>T c.620A>T (p.Asp207Val) c.644A>T (p.Asp215Val) n.335A>T n.838A>T | dbSNP |