Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
10 | g.13283796T>A | CA376034338 | PHYH | c.722A>T (p.Glu241Val) c.422A>T (p.Glu141Val) c.671A>T (p.Glu224Val) c.503A>T (p.Glu168Val) c.728A>T (p.Glu243Val) c.458A>T (p.Glu153Val) c.428A>T (p.Glu143Val) | |
10 | g.13283796T>C | CA5412249 | PHYH | c.722A>G (p.Glu241Gly) c.422A>G (p.Glu141Gly) c.671A>G (p.Glu224Gly) c.503A>G (p.Glu168Gly) c.728A>G (p.Glu243Gly) c.458A>G (p.Glu153Gly) c.428A>G (p.Glu143Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13283796T>G | CA376034341 | PHYH | c.722A>C (p.Glu241Ala) c.422A>C (p.Glu141Ala) c.671A>C (p.Glu224Ala) c.503A>C (p.Glu168Ala) c.728A>C (p.Glu243Ala) c.458A>C (p.Glu153Ala) c.428A>C (p.Glu143Ala) | |
10 | g.13283796T= | CA1891546558 | PHYH | c.722A= (p.Glu241=) c.422A= (p.Glu141=) c.671A= (p.Glu224=) c.503A= (p.Glu168=) c.728A= (p.Glu243=) c.458A= (p.Glu153=) c.428A= (p.Glu143=) | |
10 | g.13283797C>A | CA376034343 | PHYH | c.721G>T (p.Glu241Ter) c.421G>T (p.Glu141Ter) c.670G>T (p.Glu224Ter) c.502G>T (p.Glu168Ter) c.727G>T (p.Glu243Ter) c.457G>T (p.Glu153Ter) c.427G>T (p.Glu143Ter) | |
10 | g.13283797C= | CA1891546562 | PHYH | c.721G= (p.Glu241=) c.421G= (p.Glu141=) c.670G= (p.Glu224=) c.502G= (p.Glu168=) c.727G= (p.Glu243=) c.457G= (p.Glu153=) c.427G= (p.Glu143=) | |
10 | g.13283797C>G | CA376034345 | PHYH | c.721G>C (p.Glu241Gln) c.421G>C (p.Glu141Gln) c.670G>C (p.Glu224Gln) c.502G>C (p.Glu168Gln) c.727G>C (p.Glu243Gln) c.457G>C (p.Glu153Gln) c.427G>C (p.Glu143Gln) | |
10 | g.13283797C>T | CA5412250 | PHYH | c.721G>A (p.Glu241Lys) c.421G>A (p.Glu141Lys) c.670G>A (p.Glu224Lys) c.502G>A (p.Glu168Lys) c.727G>A (p.Glu243Lys) c.457G>A (p.Glu153Lys) c.427G>A (p.Glu143Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13283798C>A | CA376034351 | PHYH | c.720G>T (p.Glu240Asp) c.420G>T (p.Glu140Asp) c.669G>T (p.Glu223Asp) c.501G>T (p.Glu167Asp) c.726G>T (p.Glu242Asp) c.456G>T (p.Glu152Asp) c.426G>T (p.Glu142Asp) | |
10 | g.13283798C>G | CA376034349 | PHYH | c.720G>C (p.Glu240Asp) c.420G>C (p.Glu140Asp) c.669G>C (p.Glu223Asp) c.501G>C (p.Glu167Asp) c.726G>C (p.Glu242Asp) c.456G>C (p.Glu152Asp) c.426G>C (p.Glu142Asp) | |
10 | g.13283798C>T | CA468237118 | PHYH | c.720G>A (p.Glu240=) c.420G>A (p.Glu140=) c.669G>A (p.Glu223=) c.501G>A (p.Glu167=) c.726G>A (p.Glu242=) c.456G>A (p.Glu152=) c.426G>A (p.Glu142=) | gnomAD v4 |
10 | g.13283799T>A | CA376034353 | PHYH | c.719A>T (p.Glu240Val) c.419A>T (p.Glu140Val) c.668A>T (p.Glu223Val) c.500A>T (p.Glu167Val) c.725A>T (p.Glu242Val) c.455A>T (p.Glu152Val) c.425A>T (p.Glu142Val) | |
10 | g.13283799T>C | CA203276347 | PHYH | c.719A>G (p.Glu240Gly) c.419A>G (p.Glu140Gly) c.668A>G (p.Glu223Gly) c.500A>G (p.Glu167Gly) c.725A>G (p.Glu242Gly) c.455A>G (p.Glu152Gly) c.425A>G (p.Glu142Gly) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.13283799T>G | CA376034356 | PHYH | c.719A>C (p.Glu240Ala) c.419A>C (p.Glu140Ala) c.668A>C (p.Glu223Ala) c.500A>C (p.Glu167Ala) c.725A>C (p.Glu242Ala) c.455A>C (p.Glu152Ala) c.425A>C (p.Glu142Ala) | |
10 | g.13283799T= | CA1891546563 | PHYH | c.719A= (p.Glu240=) c.419A= (p.Glu140=) c.668A= (p.Glu223=) c.500A= (p.Glu167=) c.725A= (p.Glu242=) c.455A= (p.Glu152=) c.425A= (p.Glu142=) | |
10 | g.13283800C>A | CA376034359 | PHYH | c.718G>T (p.Glu240Ter) c.418G>T (p.Glu140Ter) c.667G>T (p.Glu223Ter) c.499G>T (p.Glu167Ter) c.724G>T (p.Glu242Ter) c.454G>T (p.Glu152Ter) c.424G>T (p.Glu142Ter) | COSMIC |
10 | g.13283800C= | CA1891546567 | PHYH | c.718G= (p.Glu240=) c.418G= (p.Glu140=) c.667G= (p.Glu223=) c.499G= (p.Glu167=) c.724G= (p.Glu242=) c.454G= (p.Glu152=) c.424G= (p.Glu142=) | |
10 | g.13283800C>G | CA376034361 | PHYH | c.718G>C (p.Glu240Gln) c.418G>C (p.Glu140Gln) c.667G>C (p.Glu223Gln) c.499G>C (p.Glu167Gln) c.724G>C (p.Glu242Gln) c.454G>C (p.Glu152Gln) c.424G>C (p.Glu142Gln) | |
10 | g.13283800C>T | CA5412251 | PHYH | c.718G>A (p.Glu240Lys) c.418G>A (p.Glu140Lys) c.667G>A (p.Glu223Lys) c.499G>A (p.Glu167Lys) c.724G>A (p.Glu242Lys) c.454G>A (p.Glu152Lys) c.424G>A (p.Glu142Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.13283801G>A | CA180294 | PHYH | c.717C>T (p.Tyr239=) c.417C>T (p.Tyr139=) c.666C>T (p.Tyr222=) c.498C>T (p.Tyr166=) c.723C>T (p.Tyr241=) c.453C>T (p.Tyr151=) c.423C>T (p.Tyr141=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13283801G>C | CA376034364 | PHYH | c.717C>G (p.Tyr239Ter) c.417C>G (p.Tyr139Ter) c.666C>G (p.Tyr222Ter) c.498C>G (p.Tyr166Ter) c.723C>G (p.Tyr241Ter) c.453C>G (p.Tyr151Ter) c.423C>G (p.Tyr141Ter) | ClinVar dbSNP gnomAD v4 |
10 | g.13283801G= | CA1891546572 | PHYH | c.717C= (p.Tyr239=) c.417C= (p.Tyr139=) c.666C= (p.Tyr222=) c.498C= (p.Tyr166=) c.723C= (p.Tyr241=) c.453C= (p.Tyr151=) c.423C= (p.Tyr141=) | |
10 | g.13283801G>T | CA376034366 | PHYH | c.717C>A (p.Tyr239Ter) c.417C>A (p.Tyr139Ter) c.666C>A (p.Tyr222Ter) c.498C>A (p.Tyr166Ter) c.723C>A (p.Tyr241Ter) c.453C>A (p.Tyr151Ter) c.423C>A (p.Tyr141Ter) | |
10 | g.13283802T>A | CA376034369 | PHYH | c.716A>T (p.Tyr239Phe) c.416A>T (p.Tyr139Phe) c.665A>T (p.Tyr222Phe) c.497A>T (p.Tyr166Phe) c.722A>T (p.Tyr241Phe) c.452A>T (p.Tyr151Phe) c.422A>T (p.Tyr141Phe) | |
10 | g.13283802T>C | CA203276360 | PHYH | c.716A>G (p.Tyr239Cys) c.416A>G (p.Tyr139Cys) c.665A>G (p.Tyr222Cys) c.497A>G (p.Tyr166Cys) c.722A>G (p.Tyr241Cys) c.452A>G (p.Tyr151Cys) c.422A>G (p.Tyr141Cys) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.13283802T>G | CA376034371 | PHYH | c.716A>C (p.Tyr239Ser) c.416A>C (p.Tyr139Ser) c.665A>C (p.Tyr222Ser) c.497A>C (p.Tyr166Ser) c.722A>C (p.Tyr241Ser) c.452A>C (p.Tyr151Ser) c.422A>C (p.Tyr141Ser) | |
10 | g.13283802T= | CA1891546582 | PHYH | c.716A= (p.Tyr239=) c.416A= (p.Tyr139=) c.665A= (p.Tyr222=) c.497A= (p.Tyr166=) c.722A= (p.Tyr241=) c.452A= (p.Tyr151=) c.422A= (p.Tyr141=) | |
10 | g.13283803A>C | CA376034374 | PHYH | c.715T>G (p.Tyr239Asp) c.415T>G (p.Tyr139Asp) c.664T>G (p.Tyr222Asp) c.496T>G (p.Tyr166Asp) c.721T>G (p.Tyr241Asp) c.451T>G (p.Tyr151Asp) c.421T>G (p.Tyr141Asp) | |
10 | g.13283803A>G | CA376034376 | PHYH | c.715T>C (p.Tyr239His) c.415T>C (p.Tyr139His) c.664T>C (p.Tyr222His) c.496T>C (p.Tyr166His) c.721T>C (p.Tyr241His) c.451T>C (p.Tyr151His) c.421T>C (p.Tyr141His) | |
10 | g.13283803A>T | CA376034377 | PHYH | c.715T>A (p.Tyr239Asn) c.415T>A (p.Tyr139Asn) c.664T>A (p.Tyr222Asn) c.496T>A (p.Tyr166Asn) c.721T>A (p.Tyr241Asn) c.451T>A (p.Tyr151Asn) c.421T>A (p.Tyr141Asn) | |
10 | g.13283804G>A | CA468237129 | PHYH | c.714C>T (p.Asp238=) c.414C>T (p.Asp138=) c.663C>T (p.Asp221=) c.495C>T (p.Asp165=) c.720C>T (p.Asp240=) c.450C>T (p.Asp150=) c.420C>T (p.Asp140=) | |
10 | g.13283804G>C | CA376034379 | PHYH | c.714C>G (p.Asp238Glu) c.414C>G (p.Asp138Glu) c.663C>G (p.Asp221Glu) c.495C>G (p.Asp165Glu) c.720C>G (p.Asp240Glu) c.450C>G (p.Asp150Glu) c.420C>G (p.Asp140Glu) | dbSNP |
10 | g.13283804G>T | CA376034381 | PHYH | c.714C>A (p.Asp238Glu) c.414C>A (p.Asp138Glu) c.663C>A (p.Asp221Glu) c.495C>A (p.Asp165Glu) c.720C>A (p.Asp240Glu) c.450C>A (p.Asp150Glu) c.420C>A (p.Asp140Glu) | |
10 | g.13283805T>A | CA376034383 | PHYH | c.713A>T (p.Asp238Val) c.413A>T (p.Asp138Val) c.662A>T (p.Asp221Val) c.494A>T (p.Asp165Val) c.719A>T (p.Asp240Val) c.449A>T (p.Asp150Val) c.419A>T (p.Asp140Val) | gnomAD v4 |
10 | g.13283805T>C | CA376034385 | PHYH | c.713A>G (p.Asp238Gly) c.413A>G (p.Asp138Gly) c.662A>G (p.Asp221Gly) c.494A>G (p.Asp165Gly) c.719A>G (p.Asp240Gly) c.449A>G (p.Asp150Gly) c.419A>G (p.Asp140Gly) | |
10 | g.13283805T>G | CA376034387 | PHYH | c.713A>C (p.Asp238Ala) c.413A>C (p.Asp138Ala) c.662A>C (p.Asp221Ala) c.494A>C (p.Asp165Ala) c.719A>C (p.Asp240Ala) c.449A>C (p.Asp150Ala) c.419A>C (p.Asp140Ala) | |
10 | g.13283806C>A | CA376034389 | PHYH | c.712G>T (p.Asp238Tyr) c.412G>T (p.Asp138Tyr) c.661G>T (p.Asp221Tyr) c.493G>T (p.Asp165Tyr) c.718G>T (p.Asp240Tyr) c.448G>T (p.Asp150Tyr) c.418G>T (p.Asp140Tyr) | dbSNP |
10 | g.13283806C= | CA1891546584 | PHYH | c.712G= (p.Asp238=) c.412G= (p.Asp138=) c.661G= (p.Asp221=) c.493G= (p.Asp165=) c.718G= (p.Asp240=) c.448G= (p.Asp150=) c.418G= (p.Asp140=) | |
10 | g.13283806C>G | CA376034391 | PHYH | c.712G>C (p.Asp238His) c.412G>C (p.Asp138His) c.661G>C (p.Asp221His) c.493G>C (p.Asp165His) c.718G>C (p.Asp240His) c.448G>C (p.Asp150His) c.418G>C (p.Asp140His) | dbSNP |
10 | g.13283806C>T | CA376034393 | PHYH | c.712G>A (p.Asp238Asn) c.412G>A (p.Asp138Asn) c.661G>A (p.Asp221Asn) c.493G>A (p.Asp165Asn) c.718G>A (p.Asp240Asn) c.448G>A (p.Asp150Asn) c.418G>A (p.Asp140Asn) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.13283807C>A | CA376034396 | PHYH | c.711G>T (p.Gln237His) c.411G>T (p.Gln137His) c.660G>T (p.Gln220His) c.492G>T (p.Gln164His) c.717G>T (p.Gln239His) c.447G>T (p.Gln149His) c.417G>T (p.Gln139His) | |
10 | g.13283807C>G | CA376034395 | PHYH | c.711G>C (p.Gln237His) c.411G>C (p.Gln137His) c.660G>C (p.Gln220His) c.492G>C (p.Gln164His) c.717G>C (p.Gln239His) c.447G>C (p.Gln149His) c.417G>C (p.Gln139His) | |
10 | g.13283807C>T | CA468237139 | PHYH | c.711G>A (p.Gln237=) c.411G>A (p.Gln137=) c.660G>A (p.Gln220=) c.492G>A (p.Gln164=) c.717G>A (p.Gln239=) c.447G>A (p.Gln149=) c.417G>A (p.Gln139=) | ClinVar gnomAD v4 |
10 | g.13283808T>A | CA376034399 | PHYH | c.710A>T (p.Gln237Leu) c.410A>T (p.Gln137Leu) c.659A>T (p.Gln220Leu) c.491A>T (p.Gln164Leu) c.716A>T (p.Gln239Leu) c.446A>T (p.Gln149Leu) c.416A>T (p.Gln139Leu) | |
10 | g.13283808T>C | CA376034401 | PHYH | c.710A>G (p.Gln237Arg) c.410A>G (p.Gln137Arg) c.659A>G (p.Gln220Arg) c.491A>G (p.Gln164Arg) c.716A>G (p.Gln239Arg) c.446A>G (p.Gln149Arg) c.416A>G (p.Gln139Arg) | |
10 | g.13283808T>G | CA376034403 | PHYH | c.710A>C (p.Gln237Pro) c.410A>C (p.Gln137Pro) c.659A>C (p.Gln220Pro) c.491A>C (p.Gln164Pro) c.716A>C (p.Gln239Pro) c.446A>C (p.Gln149Pro) c.416A>C (p.Gln139Pro) | |
10 | g.13283809G>A | CA376034405 | PHYH | c.709C>T (p.Gln237Ter) c.409C>T (p.Gln137Ter) c.658C>T (p.Gln220Ter) c.490C>T (p.Gln164Ter) c.715C>T (p.Gln239Ter) c.445C>T (p.Gln149Ter) c.415C>T (p.Gln139Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.13283809G>C | CA376034407 | PHYH | c.709C>G (p.Gln237Glu) c.409C>G (p.Gln137Glu) c.658C>G (p.Gln220Glu) c.490C>G (p.Gln164Glu) c.715C>G (p.Gln239Glu) c.445C>G (p.Gln149Glu) c.415C>G (p.Gln139Glu) | |
10 | g.13283809G= | CA1891546626 | PHYH | c.709C= (p.Gln237=) c.409C= (p.Gln137=) c.658C= (p.Gln220=) c.490C= (p.Gln164=) c.715C= (p.Gln239=) c.445C= (p.Gln149=) c.415C= (p.Gln139=) | |
10 | g.13283809G>T | CA376034409 | PHYH | c.709C>A (p.Gln237Lys) c.409C>A (p.Gln137Lys) c.658C>A (p.Gln220Lys) c.490C>A (p.Gln164Lys) c.715C>A (p.Gln239Lys) c.445C>A (p.Gln149Lys) c.415C>A (p.Gln139Lys) | |
10 | g.13283810G>A | CA468237150 | PHYH | c.708C>T (p.Ile236=) c.408C>T (p.Ile136=) c.657C>T (p.Ile219=) c.489C>T (p.Ile163=) c.714C>T (p.Ile238=) c.444C>T (p.Ile148=) c.414C>T (p.Ile138=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.13283810G>C | CA376034410 | PHYH | c.708C>G (p.Ile236Met) c.408C>G (p.Ile136Met) c.657C>G (p.Ile219Met) c.489C>G (p.Ile163Met) c.714C>G (p.Ile238Met) c.444C>G (p.Ile148Met) c.414C>G (p.Ile138Met) | gnomAD v4 |
10 | g.13283810G= | CA1891546629 | PHYH | c.708C= (p.Ile236=) c.408C= (p.Ile136=) c.657C= (p.Ile219=) c.489C= (p.Ile163=) c.714C= (p.Ile238=) c.444C= (p.Ile148=) c.414C= (p.Ile138=) | |
10 | g.13283810G>T | CA468237149 | PHYH | c.708C>A (p.Ile236=) c.408C>A (p.Ile136=) c.657C>A (p.Ile219=) c.489C>A (p.Ile163=) c.714C>A (p.Ile238=) c.444C>A (p.Ile148=) c.414C>A (p.Ile138=) | |
10 | g.13283811A>C | CA376034412 | PHYH | c.707T>G (p.Ile236Ser) c.407T>G (p.Ile136Ser) c.656T>G (p.Ile219Ser) c.488T>G (p.Ile163Ser) c.713T>G (p.Ile238Ser) c.443T>G (p.Ile148Ser) c.413T>G (p.Ile138Ser) | |
10 | g.13283811A>G | CA376034414 | PHYH | c.707T>C (p.Ile236Thr) c.407T>C (p.Ile136Thr) c.656T>C (p.Ile219Thr) c.488T>C (p.Ile163Thr) c.713T>C (p.Ile238Thr) c.443T>C (p.Ile148Thr) c.413T>C (p.Ile138Thr) | |
10 | g.13283811A>T | CA376034416 | PHYH | c.707T>A (p.Ile236Asn) c.407T>A (p.Ile136Asn) c.656T>A (p.Ile219Asn) c.488T>A (p.Ile163Asn) c.713T>A (p.Ile238Asn) c.443T>A (p.Ile148Asn) c.413T>A (p.Ile138Asn) | |
10 | g.13283812T>A | CA376034419 | PHYH | c.706A>T (p.Ile236Phe) c.406A>T (p.Ile136Phe) c.655A>T (p.Ile219Phe) c.487A>T (p.Ile163Phe) c.712A>T (p.Ile238Phe) c.442A>T (p.Ile148Phe) c.412A>T (p.Ile138Phe) | |
10 | g.13283812T>C | CA376034420 | PHYH | c.706A>G (p.Ile236Val) c.406A>G (p.Ile136Val) c.655A>G (p.Ile219Val) c.487A>G (p.Ile163Val) c.712A>G (p.Ile238Val) c.442A>G (p.Ile148Val) c.412A>G (p.Ile138Val) | |
10 | g.13283812T>G | CA376034422 | PHYH | c.706A>C (p.Ile236Leu) c.406A>C (p.Ile136Leu) c.655A>C (p.Ile219Leu) c.487A>C (p.Ile163Leu) c.712A>C (p.Ile238Leu) c.442A>C (p.Ile148Leu) c.412A>C (p.Ile138Leu) | |
10 | g.13283813C>A | CA468237158 | PHYH | c.705G>T (p.Gly235=) c.405G>T (p.Gly135=) c.654G>T (p.Gly218=) c.486G>T (p.Gly162=) c.711G>T (p.Gly237=) c.441G>T (p.Gly147=) c.411G>T (p.Gly137=) | |
10 | g.13283813C= | CA1891546633 | PHYH | c.705G= (p.Gly235=) c.405G= (p.Gly135=) c.654G= (p.Gly218=) c.486G= (p.Gly162=) c.711G= (p.Gly237=) c.441G= (p.Gly147=) c.411G= (p.Gly137=) | |
10 | g.13283813C>G | CA468237159 | PHYH | c.705G>C (p.Gly235=) c.405G>C (p.Gly135=) c.654G>C (p.Gly218=) c.486G>C (p.Gly162=) c.711G>C (p.Gly237=) c.441G>C (p.Gly147=) c.411G>C (p.Gly137=) | dbSNP gnomAD v4 |
10 | g.13283813C>T | CA468237157 | PHYH | c.705G>A (p.Gly235=) c.405G>A (p.Gly135=) c.654G>A (p.Gly218=) c.486G>A (p.Gly162=) c.711G>A (p.Gly237=) c.441G>A (p.Gly147=) c.411G>A (p.Gly137=) | |
10 | g.13283815del | CA2574492088 | PHYH | c.705del (p.Ile236SerfsTer14) c.405del (p.Ile136SerfsTer14) c.654del (p.Ile219SerfsTer14) c.486del (p.Ile163SerfsTer14) c.711del (p.Ile238SerfsTer14) c.441del (p.Ile148SerfsTer14) c.411del (p.Ile138SerfsTer14) | |
10 | g.13283814C>A | CA376034425 | PHYH | c.704G>T (p.Gly235Val) c.404G>T (p.Gly135Val) c.653G>T (p.Gly218Val) c.485G>T (p.Gly162Val) c.710G>T (p.Gly237Val) c.440G>T (p.Gly147Val) c.410G>T (p.Gly137Val) | COSMIC |
10 | g.13283814C>G | CA376034427 | PHYH | c.704G>C (p.Gly235Ala) c.404G>C (p.Gly135Ala) c.653G>C (p.Gly218Ala) c.485G>C (p.Gly162Ala) c.710G>C (p.Gly237Ala) c.440G>C (p.Gly147Ala) c.410G>C (p.Gly137Ala) | |
10 | g.13283814C>T | CA376034426 | PHYH | c.704G>A (p.Gly235Glu) c.404G>A (p.Gly135Glu) c.653G>A (p.Gly218Glu) c.485G>A (p.Gly162Glu) c.710G>A (p.Gly237Glu) c.440G>A (p.Gly147Glu) c.410G>A (p.Gly137Glu) | gnomAD v4 |
10 | g.13283815C>A | CA376034430 | PHYH | c.703G>T (p.Gly235Trp) c.403G>T (p.Gly135Trp) c.652G>T (p.Gly218Trp) c.484G>T (p.Gly162Trp) c.709G>T (p.Gly237Trp) c.439G>T (p.Gly147Trp) c.409G>T (p.Gly137Trp) | |
10 | g.13283815C= | CA1891546638 | PHYH | c.703G= (p.Gly235=) c.403G= (p.Gly135=) c.652G= (p.Gly218=) c.484G= (p.Gly162=) c.709G= (p.Gly237=) c.439G= (p.Gly147=) c.409G= (p.Gly137=) | |
10 | g.13283815C>G | CA376034433 | PHYH | c.703G>C (p.Gly235Arg) c.403G>C (p.Gly135Arg) c.652G>C (p.Gly218Arg) c.484G>C (p.Gly162Arg) c.709G>C (p.Gly237Arg) c.439G>C (p.Gly147Arg) c.409G>C (p.Gly137Arg) | |
10 | g.13283815C>T | CA5412252 | PHYH | c.703G>A (p.Gly235Arg) c.403G>A (p.Gly135Arg) c.652G>A (p.Gly218Arg) c.484G>A (p.Gly162Arg) c.709G>A (p.Gly237Arg) c.439G>A (p.Gly147Arg) c.409G>A (p.Gly137Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.13283815_13283816insA | CA2786697223 | PHYH | c.702_703insT (p.Gly235TrpfsTer?) c.402_403insT (p.Gly135TrpfsTer?) c.651_652insT (p.Gly218TrpfsTer?) c.483_484insT (p.Gly162TrpfsTer?) c.708_709insT (p.Gly237TrpfsTer?) c.438_439insT (p.Gly147TrpfsTer?) c.408_409insT (p.Gly137TrpfsTer?) | |
10 | g.13283816G>A | CA5412253 | PHYH | c.702C>T (p.His234=) c.402C>T (p.His134=) c.651C>T (p.His217=) c.483C>T (p.His161=) c.708C>T (p.His236=) c.438C>T (p.His146=) c.408C>T (p.His136=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.13283816G>C | CA376034436 | PHYH | c.702C>G (p.His234Gln) c.402C>G (p.His134Gln) c.651C>G (p.His217Gln) c.483C>G (p.His161Gln) c.708C>G (p.His236Gln) c.438C>G (p.His146Gln) c.408C>G (p.His136Gln) | gnomAD v4 COSMIC |
10 | g.13283816G= | CA1891546646 | PHYH | c.702C= (p.His234=) c.402C= (p.His134=) c.651C= (p.His217=) c.483C= (p.His161=) c.708C= (p.His236=) c.438C= (p.His146=) c.408C= (p.His136=) | |
10 | g.13283816G>T | CA376034438 | PHYH | c.702C>A (p.His234Gln) c.402C>A (p.His134Gln) c.651C>A (p.His217Gln) c.483C>A (p.His161Gln) c.708C>A (p.His236Gln) c.438C>A (p.His146Gln) c.408C>A (p.His136Gln) | ClinVar gnomAD v4 |
10 | g.13283817T>A | CA376034441 | PHYH | c.701A>T (p.His234Leu) c.401A>T (p.His134Leu) c.650A>T (p.His217Leu) c.482A>T (p.His161Leu) c.707A>T (p.His236Leu) c.437A>T (p.His146Leu) c.407A>T (p.His136Leu) | |
10 | g.13283817T>C | CA376034442 | PHYH | c.701A>G (p.His234Arg) c.401A>G (p.His134Arg) c.650A>G (p.His217Arg) c.482A>G (p.His161Arg) c.707A>G (p.His236Arg) c.437A>G (p.His146Arg) c.407A>G (p.His136Arg) | |
10 | g.13283817T>G | CA376034445 | PHYH | c.701A>C (p.His234Pro) c.401A>C (p.His134Pro) c.650A>C (p.His217Pro) c.482A>C (p.His161Pro) c.707A>C (p.His236Pro) c.437A>C (p.His146Pro) c.407A>C (p.His136Pro) | |
10 | g.13283818G>A | CA5412254 | PHYH | c.700C>T (p.His234Tyr) c.400C>T (p.His134Tyr) c.649C>T (p.His217Tyr) c.481C>T (p.His161Tyr) c.706C>T (p.His236Tyr) c.436C>T (p.His146Tyr) c.406C>T (p.His136Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13283818G>C | CA376034448 | PHYH | c.700C>G (p.His234Asp) c.400C>G (p.His134Asp) c.649C>G (p.His217Asp) c.481C>G (p.His161Asp) c.706C>G (p.His236Asp) c.436C>G (p.His146Asp) c.406C>G (p.His136Asp) | |
10 | g.13283818G= | CA1891546651 | PHYH | c.700C= (p.His234=) c.400C= (p.His134=) c.649C= (p.His217=) c.481C= (p.His161=) c.706C= (p.His236=) c.436C= (p.His146=) c.406C= (p.His136=) | |
10 | g.13283818G>T | CA376034450 | PHYH | c.700C>A (p.His234Asn) c.400C>A (p.His134Asn) c.649C>A (p.His217Asn) c.481C>A (p.His161Asn) c.706C>A (p.His236Asn) c.436C>A (p.His146Asn) c.406C>A (p.His136Asn) | |
10 | g.13283818_13283819delinsAA | CA645560873 | PHYH | c.699_700delinsTT (p.His234Tyr) c.399_400delinsTT (p.His134Tyr) c.648_649delinsTT (p.His217Tyr) c.480_481delinsTT (p.His161Tyr) c.705_706delinsTT (p.His236Tyr) c.435_436delinsTT (p.His146Tyr) c.405_406delinsTT (p.His136Tyr) | COSMIC |
10 | g.13283819G>A | CA468237174 | PHYH | c.699C>T (p.Phe233=) c.399C>T (p.Phe133=) c.648C>T (p.Phe216=) c.480C>T (p.Phe160=) c.705C>T (p.Phe235=) c.435C>T (p.Phe145=) c.405C>T (p.Phe135=) | COSMIC |
10 | g.13283819G>C | CA376034452 | PHYH | c.699C>G (p.Phe233Leu) c.399C>G (p.Phe133Leu) c.648C>G (p.Phe216Leu) c.480C>G (p.Phe160Leu) c.705C>G (p.Phe235Leu) c.435C>G (p.Phe145Leu) c.405C>G (p.Phe135Leu) | |
10 | g.13283819G>T | CA376034454 | PHYH | c.699C>A (p.Phe233Leu) c.399C>A (p.Phe133Leu) c.648C>A (p.Phe216Leu) c.480C>A (p.Phe160Leu) c.705C>A (p.Phe235Leu) c.435C>A (p.Phe145Leu) c.405C>A (p.Phe135Leu) | |
10 | g.13283820A>C | CA376034460 | PHYH | c.698T>G (p.Phe233Cys) c.398T>G (p.Phe133Cys) c.647T>G (p.Phe216Cys) c.479T>G (p.Phe160Cys) c.704T>G (p.Phe235Cys) c.434T>G (p.Phe145Cys) c.404T>G (p.Phe135Cys) | |
10 | g.13283820A>G | CA376034458 | PHYH | c.698T>C (p.Phe233Ser) c.398T>C (p.Phe133Ser) c.647T>C (p.Phe216Ser) c.479T>C (p.Phe160Ser) c.704T>C (p.Phe235Ser) c.434T>C (p.Phe145Ser) c.404T>C (p.Phe135Ser) | |
10 | g.13283820A>T | CA376034457 | PHYH | c.698T>A (p.Phe233Tyr) c.398T>A (p.Phe133Tyr) c.647T>A (p.Phe216Tyr) c.479T>A (p.Phe160Tyr) c.704T>A (p.Phe235Tyr) c.434T>A (p.Phe145Tyr) c.404T>A (p.Phe135Tyr) | |
10 | g.13283821A>C | CA376034462 | PHYH | c.697T>G (p.Phe233Val) c.397T>G (p.Phe133Val) c.646T>G (p.Phe216Val) c.478T>G (p.Phe160Val) c.703T>G (p.Phe235Val) c.433T>G (p.Phe145Val) c.403T>G (p.Phe135Val) | |
10 | g.13283821A>G | CA376034464 | PHYH | c.697T>C (p.Phe233Leu) c.397T>C (p.Phe133Leu) c.646T>C (p.Phe216Leu) c.478T>C (p.Phe160Leu) c.703T>C (p.Phe235Leu) c.433T>C (p.Phe145Leu) c.403T>C (p.Phe135Leu) | |
10 | g.13283821A>T | CA376034466 | PHYH | c.697T>A (p.Phe233Ile) c.397T>A (p.Phe133Ile) c.646T>A (p.Phe216Ile) c.478T>A (p.Phe160Ile) c.703T>A (p.Phe235Ile) c.433T>A (p.Phe145Ile) c.403T>A (p.Phe135Ile) | |
10 | g.13283822C>A | CA376034469 | PHYH | c.696G>T (p.Met232Ile) c.396G>T (p.Met132Ile) c.645G>T (p.Met215Ile) c.477G>T (p.Met159Ile) c.702G>T (p.Met234Ile) c.432G>T (p.Met144Ile) c.402G>T (p.Met134Ile) | |
10 | g.13283822C>G | CA376034471 | PHYH | c.696G>C (p.Met232Ile) c.396G>C (p.Met132Ile) c.645G>C (p.Met215Ile) c.477G>C (p.Met159Ile) c.702G>C (p.Met234Ile) c.432G>C (p.Met144Ile) c.402G>C (p.Met134Ile) | |
10 | g.13283822C>T | CA376034472 | PHYH | c.696G>A (p.Met232Ile) c.396G>A (p.Met132Ile) c.645G>A (p.Met215Ile) c.477G>A (p.Met159Ile) c.702G>A (p.Met234Ile) c.432G>A (p.Met144Ile) c.402G>A (p.Met134Ile) | |
10 | g.13283823A= | CA1891546657 | PHYH | c.695T= (p.Met232=) c.395T= (p.Met132=) c.644T= (p.Met215=) c.476T= (p.Met159=) c.701T= (p.Met234=) c.431T= (p.Met144=) c.401T= (p.Met134=) | |
10 | g.13283823A>C | CA376034474 | PHYH | c.695T>G (p.Met232Arg) c.395T>G (p.Met132Arg) c.644T>G (p.Met215Arg) c.476T>G (p.Met159Arg) c.701T>G (p.Met234Arg) c.431T>G (p.Met144Arg) c.401T>G (p.Met134Arg) | |
10 | g.13283823A>G | CA376034476 | PHYH | c.695T>C (p.Met232Thr) c.395T>C (p.Met132Thr) c.644T>C (p.Met215Thr) c.476T>C (p.Met159Thr) c.701T>C (p.Met234Thr) c.431T>C (p.Met144Thr) c.401T>C (p.Met134Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13283823A>T | CA376034478 | PHYH | c.695T>A (p.Met232Lys) c.395T>A (p.Met132Lys) c.644T>A (p.Met215Lys) c.476T>A (p.Met159Lys) c.701T>A (p.Met234Lys) c.431T>A (p.Met144Lys) c.401T>A (p.Met134Lys) | |
10 | g.13283823_13283824delinsAT | CA1891546658 | PHYH | c.694_695delinsAT (p.Met232=) c.394_395delinsAT (p.Met132=) c.643_644delinsAT (p.Met215=) c.475_476delinsAT (p.Met159=) c.700_701delinsAT (p.Met234=) c.430_431delinsAT (p.Met144=) c.400_401delinsAT (p.Met134=) | |
10 | g.13283824T>A | CA376034480 | PHYH | c.694A>T (p.Met232Leu) c.394A>T (p.Met132Leu) c.643A>T (p.Met215Leu) c.475A>T (p.Met159Leu) c.700A>T (p.Met234Leu) c.430A>T (p.Met144Leu) c.400A>T (p.Met134Leu) | |
10 | g.13283824T>C | CA376034482 | PHYH | c.694A>G (p.Met232Val) c.394A>G (p.Met132Val) c.643A>G (p.Met215Val) c.475A>G (p.Met159Val) c.700A>G (p.Met234Val) c.430A>G (p.Met144Val) c.400A>G (p.Met134Val) | |
10 | g.13283824T>G | CA376034484 | PHYH | c.694A>C (p.Met232Leu) c.394A>C (p.Met132Leu) c.643A>C (p.Met215Leu) c.475A>C (p.Met159Leu) c.700A>C (p.Met234Leu) c.430A>C (p.Met144Leu) c.400A>C (p.Met134Leu) | |
10 | g.13283827del | CA1891546662 | PHYH | c.694del (p.Met232CysfsTer18) c.394del (p.Met132CysfsTer18) c.643del (p.Met215CysfsTer18) c.475del (p.Met159CysfsTer18) c.700del (p.Met234CysfsTer18) c.430del (p.Met144CysfsTer18) c.400del (p.Met134CysfsTer18) | dbSNP |
10 | g.13283825T>A | CA376034486 | PHYH | c.693A>T (p.Lys231Asn) c.393A>T (p.Lys131Asn) c.642A>T (p.Lys214Asn) c.474A>T (p.Lys158Asn) c.699A>T (p.Lys233Asn) c.429A>T (p.Lys143Asn) c.399A>T (p.Lys133Asn) | |
10 | g.13283825T>C | CA468237188 | PHYH | c.693A>G (p.Lys231=) c.393A>G (p.Lys131=) c.642A>G (p.Lys214=) c.474A>G (p.Lys158=) c.699A>G (p.Lys233=) c.429A>G (p.Lys143=) c.399A>G (p.Lys133=) | |
10 | g.13283825T>G | CA376034488 | PHYH | c.693A>C (p.Lys231Asn) c.393A>C (p.Lys131Asn) c.642A>C (p.Lys214Asn) c.474A>C (p.Lys158Asn) c.699A>C (p.Lys233Asn) c.429A>C (p.Lys143Asn) c.399A>C (p.Lys133Asn) | |
10 | g.13283825_13283828delinsTTTG | CA1891546664 | PHYH | c.690_693delinsCAAA (p.Asn230=) c.390_393delinsCAAA (p.Asn130=) c.639_642delinsCAAA (p.Asn213=) c.471_474delinsCAAA (p.Asn157=) c.696_699delinsCAAA (p.Asn232=) c.426_429delinsCAAA (p.Asn142=) c.396_399delinsCAAA (p.Asn132=) | |
10 | g.13283826T>A | CA376034490 | PHYH | c.692A>T (p.Lys231Ile) c.392A>T (p.Lys131Ile) c.641A>T (p.Lys214Ile) c.473A>T (p.Lys158Ile) c.698A>T (p.Lys233Ile) c.428A>T (p.Lys143Ile) c.398A>T (p.Lys133Ile) | |
10 | g.13283826T>C | CA5412255 | PHYH | c.692A>G (p.Lys231Arg) c.392A>G (p.Lys131Arg) c.641A>G (p.Lys214Arg) c.473A>G (p.Lys158Arg) c.698A>G (p.Lys233Arg) c.428A>G (p.Lys143Arg) c.398A>G (p.Lys133Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.13283826T>G | CA376034493 | PHYH | c.692A>C (p.Lys231Thr) c.392A>C (p.Lys131Thr) c.641A>C (p.Lys214Thr) c.473A>C (p.Lys158Thr) c.698A>C (p.Lys233Thr) c.428A>C (p.Lys143Thr) c.398A>C (p.Lys133Thr) | |
10 | g.13283826T= | CA1891546668 | PHYH | c.692A= (p.Lys231=) c.392A= (p.Lys131=) c.641A= (p.Lys214=) c.473A= (p.Lys158=) c.698A= (p.Lys233=) c.428A= (p.Lys143=) c.398A= (p.Lys133=) | |
10 | g.13283828_13283830del | CA661899089 | PHYH | c.690_692del (p.Asn230del) c.390_392del (p.Asn130del) c.639_641del (p.Asn213del) c.471_473del (p.Asn157del) c.696_698del (p.Asn232del) c.426_428del (p.Asn142del) c.396_398del (p.Asn132del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.13283827T>A | CA376034495 | PHYH | c.691A>T (p.Lys231Ter) c.391A>T (p.Lys131Ter) c.640A>T (p.Lys214Ter) c.472A>T (p.Lys158Ter) c.697A>T (p.Lys233Ter) c.427A>T (p.Lys143Ter) c.397A>T (p.Lys133Ter) | |
10 | g.13283827T>C | CA376034497 | PHYH | c.691A>G (p.Lys231Glu) c.391A>G (p.Lys131Glu) c.640A>G (p.Lys214Glu) c.472A>G (p.Lys158Glu) c.697A>G (p.Lys233Glu) c.427A>G (p.Lys143Glu) c.397A>G (p.Lys133Glu) | |
10 | g.13283827T>G | CA376034499 | PHYH | c.691A>C (p.Lys231Gln) c.391A>C (p.Lys131Gln) c.640A>C (p.Lys214Gln) c.472A>C (p.Lys158Gln) c.697A>C (p.Lys233Gln) c.427A>C (p.Lys143Gln) c.397A>C (p.Lys133Gln) | |
10 | g.13283827_13283828delinsTG | CA1891546673 | PHYH | c.690_691delinsCA (p.Asn230=) c.390_391delinsCA (p.Asn130=) c.639_640delinsCA (p.Asn213=) c.471_472delinsCA (p.Asn157=) c.696_697delinsCA (p.Asn232=) c.426_427delinsCA (p.Asn142=) c.396_397delinsCA (p.Asn132=) | |
10 | g.13283828del | CA1891546675 | PHYH | c.690del (p.Asn230LysfsTer20) c.390del (p.Asn130LysfsTer20) c.639del (p.Asn213LysfsTer20) c.471del (p.Asn157LysfsTer20) c.696del (p.Asn232LysfsTer20) c.426del (p.Asn142LysfsTer20) c.396del (p.Asn132LysfsTer20) | dbSNP |
10 | g.13283828G>A | CA468237195 | PHYH | c.690C>T (p.Asn230=) c.390C>T (p.Asn130=) c.639C>T (p.Asn213=) c.471C>T (p.Asn157=) c.696C>T (p.Asn232=) c.426C>T (p.Asn142=) c.396C>T (p.Asn132=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.13283828G>C | CA376034503 | PHYH | c.690C>G (p.Asn230Lys) c.390C>G (p.Asn130Lys) c.639C>G (p.Asn213Lys) c.471C>G (p.Asn157Lys) c.696C>G (p.Asn232Lys) c.426C>G (p.Asn142Lys) c.396C>G (p.Asn132Lys) | |
10 | g.13283828G= | CA1891546677 | PHYH | c.690C= (p.Asn230=) c.390C= (p.Asn130=) c.639C= (p.Asn213=) c.471C= (p.Asn157=) c.696C= (p.Asn232=) c.426C= (p.Asn142=) c.396C= (p.Asn132=) | |
10 | g.13283828G>T | CA376034501 | PHYH | c.690C>A (p.Asn230Lys) c.390C>A (p.Asn130Lys) c.639C>A (p.Asn213Lys) c.471C>A (p.Asn157Lys) c.696C>A (p.Asn232Lys) c.426C>A (p.Asn142Lys) c.396C>A (p.Asn132Lys) | |
10 | g.13283829T>A | CA376034505 | PHYH | c.689A>T (p.Asn230Ile) c.389A>T (p.Asn130Ile) c.638A>T (p.Asn213Ile) c.470A>T (p.Asn157Ile) c.695A>T (p.Asn232Ile) c.425A>T (p.Asn142Ile) c.395A>T (p.Asn132Ile) | |
10 | g.13283829T>C | CA376034507 | PHYH | c.689A>G (p.Asn230Ser) c.389A>G (p.Asn130Ser) c.638A>G (p.Asn213Ser) c.470A>G (p.Asn157Ser) c.695A>G (p.Asn232Ser) c.425A>G (p.Asn142Ser) c.395A>G (p.Asn132Ser) | |
10 | g.13283829T>G | CA376034509 | PHYH | c.689A>C (p.Asn230Thr) c.389A>C (p.Asn130Thr) c.638A>C (p.Asn213Thr) c.470A>C (p.Asn157Thr) c.695A>C (p.Asn232Thr) c.425A>C (p.Asn142Thr) c.395A>C (p.Asn132Thr) | |
10 | g.13283830T>A | CA376034512 | PHYH | c.688A>T (p.Asn230Tyr) c.388A>T (p.Asn130Tyr) c.637A>T (p.Asn213Tyr) c.469A>T (p.Asn157Tyr) c.694A>T (p.Asn232Tyr) c.424A>T (p.Asn142Tyr) c.394A>T (p.Asn132Tyr) | |
10 | g.13283830T>C | CA376034513 | PHYH | c.688A>G (p.Asn230Asp) c.388A>G (p.Asn130Asp) c.637A>G (p.Asn213Asp) c.469A>G (p.Asn157Asp) c.694A>G (p.Asn232Asp) c.424A>G (p.Asn142Asp) c.394A>G (p.Asn132Asp) | |
10 | g.13283830T>G | CA376034516 | PHYH | c.688A>C (p.Asn230His) c.388A>C (p.Asn130His) c.637A>C (p.Asn213His) c.469A>C (p.Asn157His) c.694A>C (p.Asn232His) c.424A>C (p.Asn142His) c.394A>C (p.Asn132His) | |
10 | g.13283831A>C | CA468237206 | PHYH | c.687T>G (p.Val229=) c.387T>G (p.Val129=) c.636T>G (p.Val212=) c.468T>G (p.Val156=) c.693T>G (p.Val231=) c.423T>G (p.Val141=) c.393T>G (p.Val131=) | |
10 | g.13283831A>G | CA468237207 | PHYH | c.687T>C (p.Val229=) c.387T>C (p.Val129=) c.636T>C (p.Val212=) c.468T>C (p.Val156=) c.693T>C (p.Val231=) c.423T>C (p.Val141=) c.393T>C (p.Val131=) | |
10 | g.13283831A>T | CA468237210 | PHYH | c.687T>A (p.Val229=) c.387T>A (p.Val129=) c.636T>A (p.Val212=) c.468T>A (p.Val156=) c.693T>A (p.Val231=) c.423T>A (p.Val141=) c.393T>A (p.Val131=) | |
10 | g.13283831_13283832del | CA2580081343 | PHYH | c.686_687del (p.Val229GlufsTer?) c.386_387del (p.Val129GlufsTer?) c.635_636del (p.Val212GlufsTer?) c.467_468del (p.Val156GlufsTer?) c.692_693del (p.Val231GlufsTer?) c.422_423del (p.Val141GlufsTer?) c.392_393del (p.Val131GlufsTer?) | ClinVar |
10 | g.13283832A>C | CA376034518 | PHYH | c.686T>G (p.Val229Gly) c.386T>G (p.Val129Gly) c.635T>G (p.Val212Gly) c.467T>G (p.Val156Gly) c.692T>G (p.Val231Gly) c.422T>G (p.Val141Gly) c.392T>G (p.Val131Gly) | |
10 | g.13283832A>G | CA376034522 | PHYH | c.686T>C (p.Val229Ala) c.386T>C (p.Val129Ala) c.635T>C (p.Val212Ala) c.467T>C (p.Val156Ala) c.692T>C (p.Val231Ala) c.422T>C (p.Val141Ala) c.392T>C (p.Val131Ala) | |
10 | g.13283832A>T | CA376034520 | PHYH | c.686T>A (p.Val229Asp) c.386T>A (p.Val129Asp) c.635T>A (p.Val212Asp) c.467T>A (p.Val156Asp) c.692T>A (p.Val231Asp) c.422T>A (p.Val141Asp) c.392T>A (p.Val131Asp) | |
10 | g.13283833C>A | CA376034525 | PHYH | c.685G>T (p.Val229Phe) c.385G>T (p.Val129Phe) c.634G>T (p.Val212Phe) c.466G>T (p.Val156Phe) c.691G>T (p.Val231Phe) c.421G>T (p.Val141Phe) c.391G>T (p.Val131Phe) | |
10 | g.13283833C>G | CA376034526 | PHYH | c.685G>C (p.Val229Leu) c.385G>C (p.Val129Leu) c.634G>C (p.Val212Leu) c.466G>C (p.Val156Leu) c.691G>C (p.Val231Leu) c.421G>C (p.Val141Leu) c.391G>C (p.Val131Leu) | |
10 | g.13283833C>T | CA376034528 | PHYH | c.685G>A (p.Val229Ile) c.385G>A (p.Val129Ile) c.634G>A (p.Val212Ile) c.466G>A (p.Val156Ile) c.691G>A (p.Val231Ile) c.421G>A (p.Val141Ile) c.391G>A (p.Val131Ile) | |
10 | g.13283834del | CA2580081344 | PHYH | c.684del (p.Val229LeufsTer21) c.384del (p.Val129LeufsTer21) c.633del (p.Val212LeufsTer21) c.465del (p.Val156LeufsTer21) c.690del (p.Val231LeufsTer21) c.420del (p.Val141LeufsTer21) c.390del (p.Val131LeufsTer21) | ClinVar |
10 | g.13283834T>A | CA468237222 | PHYH | c.684A>T (p.Gly228=) c.384A>T (p.Gly128=) c.633A>T (p.Gly211=) c.465A>T (p.Gly155=) c.690A>T (p.Gly230=) c.420A>T (p.Gly140=) c.390A>T (p.Gly130=) | |
10 | g.13283834T>C | CA468237223 | PHYH | c.684A>G (p.Gly228=) c.384A>G (p.Gly128=) c.633A>G (p.Gly211=) c.465A>G (p.Gly155=) c.690A>G (p.Gly230=) c.420A>G (p.Gly140=) c.390A>G (p.Gly130=) | |
10 | g.13283834T>G | CA468237221 | PHYH | c.684A>C (p.Gly228=) c.384A>C (p.Gly128=) c.633A>C (p.Gly211=) c.465A>C (p.Gly155=) c.690A>C (p.Gly230=) c.420A>C (p.Gly140=) c.390A>C (p.Gly130=) | |
10 | g.13283834T= | CA1891546680 | PHYH | c.684A= (p.Gly228=) c.384A= (p.Gly128=) c.633A= (p.Gly211=) c.465A= (p.Gly155=) c.690A= (p.Gly230=) c.420A= (p.Gly140=) c.390A= (p.Gly130=) | |
10 | g.13283835C>A | CA5412258 | PHYH | c.683G>T (p.Gly228Val) c.383G>T (p.Gly128Val) c.632G>T (p.Gly211Val) c.464G>T (p.Gly155Val) c.689G>T (p.Gly230Val) c.419G>T (p.Gly140Val) c.389G>T (p.Gly130Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13283835C= | CA1891546688 | PHYH | c.683G= (p.Gly228=) c.383G= (p.Gly128=) c.632G= (p.Gly211=) c.464G= (p.Gly155=) c.689G= (p.Gly230=) c.419G= (p.Gly140=) c.389G= (p.Gly130=) | |
10 | g.13283835C>G | CA203276388 | PHYH | c.683G>C (p.Gly228Ala) c.383G>C (p.Gly128Ala) c.632G>C (p.Gly211Ala) c.464G>C (p.Gly155Ala) c.689G>C (p.Gly230Ala) c.419G>C (p.Gly140Ala) c.389G>C (p.Gly130Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.13283835C>T | CA5412257 | PHYH | c.683G>A (p.Gly228Glu) c.383G>A (p.Gly128Glu) c.632G>A (p.Gly211Glu) c.464G>A (p.Gly155Glu) c.689G>A (p.Gly230Glu) c.419G>A (p.Gly140Glu) c.389G>A (p.Gly130Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13283840dup | CA5412256 | PHYH | c.683dup c.383dup c.632dup c.464dup c.689dup c.419dup c.389dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13283839_13283840dup | CA2786697224 | PHYH | c.682_683dup c.382_383dup c.631_632dup c.463_464dup c.688_689dup c.418_419dup c.388_389dup | |
10 | g.13283840del | CA468237228 | PHYH | c.683del c.383del c.632del c.464del c.689del c.419del c.389del | gnomAD v4 COSMIC |
10 | g.13283836C>A | CA376034535 | PHYH | c.682G>T (p.Gly228Ter) c.382G>T (p.Gly128Ter) c.631G>T (p.Gly211Ter) c.463G>T (p.Gly155Ter) c.688G>T (p.Gly230Ter) c.418G>T (p.Gly140Ter) c.388G>T (p.Gly130Ter) | |
10 | g.13283836C>G | CA376034537 | PHYH | c.682G>C (p.Gly228Arg) c.382G>C (p.Gly128Arg) c.631G>C (p.Gly211Arg) c.463G>C (p.Gly155Arg) c.688G>C (p.Gly230Arg) c.418G>C (p.Gly140Arg) c.388G>C (p.Gly130Arg) | |
10 | g.13283836C>T | CA376034539 | PHYH | c.682G>A (p.Gly228Arg) c.382G>A (p.Gly128Arg) c.631G>A (p.Gly211Arg) c.463G>A (p.Gly155Arg) c.688G>A (p.Gly230Arg) c.418G>A (p.Gly140Arg) c.388G>A (p.Gly130Arg) | COSMIC |
10 | g.13283837C>A | CA468237229 | PHYH | c.681G>T (p.Gly227=) c.381G>T (p.Gly127=) c.630G>T (p.Gly210=) c.462G>T (p.Gly154=) c.687G>T (p.Gly229=) c.417G>T (p.Gly139=) c.387G>T (p.Gly129=) | |
10 | g.13283837C= | CA1891546695 | PHYH | c.681G= (p.Gly227=) c.381G= (p.Gly127=) c.630G= (p.Gly210=) c.462G= (p.Gly154=) c.687G= (p.Gly229=) c.417G= (p.Gly139=) c.387G= (p.Gly129=) | |
10 | g.13283837C>G | CA468237230 | PHYH | c.681G>C (p.Gly227=) c.381G>C (p.Gly127=) c.630G>C (p.Gly210=) c.462G>C (p.Gly154=) c.687G>C (p.Gly229=) c.417G>C (p.Gly139=) c.387G>C (p.Gly129=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.13283837C>T | CA5412259 | PHYH | c.681G>A (p.Gly227=) c.381G>A (p.Gly127=) c.630G>A (p.Gly210=) c.462G>A (p.Gly154=) c.687G>A (p.Gly229=) c.417G>A (p.Gly139=) c.387G>A (p.Gly129=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13283838C>A | CA376034545 | PHYH | c.680G>T (p.Gly227Val) c.380G>T (p.Gly127Val) c.629G>T (p.Gly210Val) c.461G>T (p.Gly154Val) c.686G>T (p.Gly229Val) c.416G>T (p.Gly139Val) c.386G>T (p.Gly129Val) | |
10 | g.13283838C= | CA1891546700 | PHYH | c.680G= (p.Gly227=) c.380G= (p.Gly127=) c.629G= (p.Gly210=) c.461G= (p.Gly154=) c.686G= (p.Gly229=) c.416G= (p.Gly139=) c.386G= (p.Gly129=) | |
10 | g.13283838C>G | CA203276397 | PHYH | c.680G>C (p.Gly227Ala) c.380G>C (p.Gly127Ala) c.629G>C (p.Gly210Ala) c.461G>C (p.Gly154Ala) c.686G>C (p.Gly229Ala) c.416G>C (p.Gly139Ala) c.386G>C (p.Gly129Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.13283838C>T | CA376034543 | PHYH | c.680G>A (p.Gly227Glu) c.380G>A (p.Gly127Glu) c.629G>A (p.Gly210Glu) c.461G>A (p.Gly154Glu) c.686G>A (p.Gly229Glu) c.416G>A (p.Gly139Glu) c.386G>A (p.Gly129Glu) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.13283839C>A | CA5412260 | PHYH | c.679G>T (p.Gly227Trp) c.379G>T (p.Gly127Trp) c.628G>T (p.Gly210Trp) c.460G>T (p.Gly154Trp) c.685G>T (p.Gly229Trp) c.415G>T (p.Gly139Trp) c.385G>T (p.Gly129Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13283839C= | CA1891546706 | PHYH | c.679G= (p.Gly227=) c.379G= (p.Gly127=) c.628G= (p.Gly210=) c.460G= (p.Gly154=) c.685G= (p.Gly229=) c.415G= (p.Gly139=) c.385G= (p.Gly129=) | |
10 | g.13283839C>G | CA5412261 | PHYH | c.679G>C (p.Gly227Arg) c.379G>C (p.Gly127Arg) c.628G>C (p.Gly210Arg) c.460G>C (p.Gly154Arg) c.685G>C (p.Gly229Arg) c.415G>C (p.Gly139Arg) c.385G>C (p.Gly129Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13283839C>T | CA5412262 | PHYH | c.679G>A (p.Gly227Arg) c.379G>A (p.Gly127Arg) c.628G>A (p.Gly210Arg) c.460G>A (p.Gly154Arg) c.685G>A (p.Gly229Arg) c.415G>A (p.Gly139Arg) c.385G>A (p.Gly129Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.13283840C>A | CA5412263 | PHYH | c.679-1G>T (n.679-1G>T) c.379-1G>T (n.379-1G>T) c.628-1G>T (n.628-1G>T) c.460-1G>T (n.460-1G>T) c.685-1G>T (n.685-1G>T) c.415-1G>T (n.415-1G>T) c.385-1G>T (n.385-1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13283840C= | CA1891546717 | PHYH | c.679-1G= (n.679-1G=) c.379-1G= (n.379-1G=) c.628-1G= (n.628-1G=) c.460-1G= (n.460-1G=) c.685-1G= (n.685-1G=) c.415-1G= (n.415-1G=) c.385-1G= (n.385-1G=) | |
10 | g.13283840C>G | CA376034555 | PHYH | c.679-1G>C (n.679-1G>C) c.379-1G>C (n.379-1G>C) c.628-1G>C (n.628-1G>C) c.460-1G>C (n.460-1G>C) c.685-1G>C (n.685-1G>C) c.415-1G>C (n.415-1G>C) c.385-1G>C (n.385-1G>C) | |
10 | g.13283840C>T | CA376034553 | PHYH | c.679-1G>A (n.679-1G>A) c.379-1G>A (n.379-1G>A) c.628-1G>A (n.628-1G>A) c.460-1G>A (n.460-1G>A) c.685-1G>A (n.685-1G>A) c.415-1G>A (n.415-1G>A) c.385-1G>A (n.385-1G>A) | |
10 | g.13283841del | CA2574492102 | PHYH | c.679-2del (n.679-2del) c.379-2del (n.379-2del) c.628-2del (n.628-2del) c.460-2del (n.460-2del) c.685-2del (n.685-2del) c.415-2del (n.415-2del) c.385-2del (n.385-2del) | ClinVar gnomAD v4 |
10 | g.13283841T>A | CA376034558 | PHYH | c.679-2A>T (n.679-2A>T) c.379-2A>T (n.379-2A>T) c.628-2A>T (n.628-2A>T) c.460-2A>T (n.460-2A>T) c.685-2A>T (n.685-2A>T) c.415-2A>T (n.415-2A>T) c.385-2A>T (n.385-2A>T) | |
10 | g.13283841T>C | CA376034559 | PHYH | c.679-2A>G (n.679-2A>G) c.379-2A>G (n.379-2A>G) c.628-2A>G (n.628-2A>G) c.460-2A>G (n.460-2A>G) c.685-2A>G (n.685-2A>G) c.415-2A>G (n.415-2A>G) c.385-2A>G (n.385-2A>G) | |
10 | g.13283841T>G | CA376034561 | PHYH | c.679-2A>C (n.679-2A>C) c.379-2A>C (n.379-2A>C) c.628-2A>C (n.628-2A>C) c.460-2A>C (n.460-2A>C) c.685-2A>C (n.685-2A>C) c.415-2A>C (n.415-2A>C) c.385-2A>C (n.385-2A>C) | ClinVar |
10 | g.13283842A= | CA1891546720 | PHYH | c.679-3T= (n.679-3T=) c.379-3T= (n.379-3T=) c.628-3T= (n.628-3T=) c.460-3T= (n.460-3T=) c.685-3T= (n.685-3T=) c.415-3T= (n.415-3T=) c.385-3T= (n.385-3T=) | |
10 | g.13283842A>C | CA592075236 | PHYH | c.679-3T>G (n.679-3T>G) c.379-3T>G (n.379-3T>G) c.628-3T>G (n.628-3T>G) c.460-3T>G (n.460-3T>G) c.685-3T>G (n.685-3T>G) c.415-3T>G (n.415-3T>G) c.385-3T>G (n.385-3T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.13283842A>T | CA5412264 | PHYH | c.679-3T>A (n.679-3T>A) c.379-3T>A (n.379-3T>A) c.628-3T>A (n.628-3T>A) c.460-3T>A (n.460-3T>A) c.685-3T>A (n.685-3T>A) c.415-3T>A (n.415-3T>A) c.385-3T>A (n.385-3T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.13283845A= | CA1891546722 | PHYH | c.679-6T= (n.679-6T=) c.379-6T= (n.379-6T=) c.628-6T= (n.628-6T=) c.460-6T= (n.460-6T=) c.685-6T= (n.685-6T=) c.415-6T= (n.415-6T=) c.385-6T= (n.385-6T=) | |
10 | g.13283845A>G | CA592075239 | PHYH | c.679-6T>C (n.679-6T>C) c.379-6T>C (n.379-6T>C) c.628-6T>C (n.628-6T>C) c.460-6T>C (n.460-6T>C) c.685-6T>C (n.685-6T>C) c.415-6T>C (n.415-6T>C) c.385-6T>C (n.385-6T>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.13283846C>T | CA2574492103 | PHYH | c.679-7G>A (n.679-7G>A) c.379-7G>A (n.379-7G>A) c.628-7G>A (n.628-7G>A) c.460-7G>A (n.460-7G>A) c.685-7G>A (n.685-7G>A) c.415-7G>A (n.415-7G>A) c.385-7G>A (n.385-7G>A) | ClinVar |
10 | g.13283848A= | CA1891546724 | PHYH | c.679-9T= (n.679-9T=) c.379-9T= (n.379-9T=) c.628-9T= (n.628-9T=) c.460-9T= (n.460-9T=) c.685-9T= (n.685-9T=) c.415-9T= (n.415-9T=) c.385-9T= (n.385-9T=) | |
10 | g.13283848A>G | CA592075240 | PHYH | c.679-9T>C (n.679-9T>C) c.379-9T>C (n.379-9T>C) c.628-9T>C (n.628-9T>C) c.460-9T>C (n.460-9T>C) c.685-9T>C (n.685-9T>C) c.415-9T>C (n.415-9T>C) c.385-9T>C (n.385-9T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13283849G>C | CA2608293066 | PHYH | c.679-10C>G (n.679-10C>G) c.379-10C>G (n.379-10C>G) c.628-10C>G (n.628-10C>G) c.460-10C>G (n.460-10C>G) c.685-10C>G (n.685-10C>G) c.415-10C>G (n.415-10C>G) c.385-10C>G (n.385-10C>G) | gnomAD v4 |
10 | g.13283850A= | CA1891546730 | PHYH | c.679-11T= (n.679-11T=) c.379-11T= (n.379-11T=) c.628-11T= (n.628-11T=) c.460-11T= (n.460-11T=) c.685-11T= (n.685-11T=) c.415-11T= (n.415-11T=) c.385-11T= (n.385-11T=) | |
10 | g.13283850A>T | CA10634934 | PHYH | c.679-11T>A (n.679-11T>A) c.379-11T>A (n.379-11T>A) c.628-11T>A (n.628-11T>A) c.460-11T>A (n.460-11T>A) c.685-11T>A (n.685-11T>A) c.415-11T>A (n.415-11T>A) c.385-11T>A (n.385-11T>A) | ClinVar dbSNP gnomAD v4 |
10 | g.13283851G>A | CA5412265 | PHYH | c.679-12C>T (n.679-12C>T) c.379-12C>T (n.379-12C>T) c.628-12C>T (n.628-12C>T) c.460-12C>T (n.460-12C>T) c.685-12C>T (n.685-12C>T) c.415-12C>T (n.415-12C>T) c.385-12C>T (n.385-12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.13283851G= | CA1891546735 | PHYH | c.679-12C= (n.679-12C=) c.379-12C= (n.379-12C=) c.628-12C= (n.628-12C=) c.460-12C= (n.460-12C=) c.685-12C= (n.685-12C=) c.415-12C= (n.415-12C=) c.385-12C= (n.385-12C=) | |
10 | g.13283852del | CA2786697225 | PHYH | c.679-12del (n.679-12del) c.379-12del (n.379-12del) c.628-12del (n.628-12del) c.460-12del (n.460-12del) c.685-12del (n.685-12del) c.415-12del (n.415-12del) c.385-12del (n.385-12del) | |
10 | g.13283852G>A | CA661899167 | PHYH | c.679-13C>T (n.679-13C>T) c.379-13C>T (n.379-13C>T) c.628-13C>T (n.628-13C>T) c.460-13C>T (n.460-13C>T) c.685-13C>T (n.685-13C>T) c.415-13C>T (n.415-13C>T) c.385-13C>T (n.385-13C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.13283852G= | CA1891546737 | PHYH | c.679-13C= (n.679-13C=) c.379-13C= (n.379-13C=) c.628-13C= (n.628-13C=) c.460-13C= (n.460-13C=) c.685-13C= (n.685-13C=) c.415-13C= (n.415-13C=) c.385-13C= (n.385-13C=) | |
10 | g.13283852G>T | CA2574492104 | PHYH | c.679-13C>A (n.679-13C>A) c.379-13C>A (n.379-13C>A) c.628-13C>A (n.628-13C>A) c.460-13C>A (n.460-13C>A) c.685-13C>A (n.685-13C>A) c.415-13C>A (n.415-13C>A) c.385-13C>A (n.385-13C>A) | gnomAD v4 |
10 | g.13283853C= | CA1891546739 | PHYH | c.679-14G= (n.679-14G=) c.379-14G= (n.379-14G=) c.628-14G= (n.628-14G=) c.460-14G= (n.460-14G=) c.685-14G= (n.685-14G=) c.415-14G= (n.415-14G=) c.385-14G= (n.385-14G=) | |
10 | g.13283853C>T | CA5412266 | PHYH | c.679-14G>A (n.679-14G>A) c.379-14G>A (n.379-14G>A) c.628-14G>A (n.628-14G>A) c.460-14G>A (n.460-14G>A) c.685-14G>A (n.685-14G>A) c.415-14G>A (n.415-14G>A) c.385-14G>A (n.385-14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13283854A= | CA1891546744 | PHYH | c.679-15T= (n.679-15T=) c.379-15T= (n.379-15T=) c.628-15T= (n.628-15T=) c.460-15T= (n.460-15T=) c.685-15T= (n.685-15T=) c.415-15T= (n.415-15T=) c.385-15T= (n.385-15T=) | |
10 | g.13283854A>C | CA2574492105 | PHYH | c.679-15T>G (n.679-15T>G) c.379-15T>G (n.379-15T>G) c.628-15T>G (n.628-15T>G) c.460-15T>G (n.460-15T>G) c.685-15T>G (n.685-15T>G) c.415-15T>G (n.415-15T>G) c.385-15T>G (n.385-15T>G) | |
10 | g.13283854A>T | CA661899175 | PHYH | c.679-15T>A (n.679-15T>A) c.379-15T>A (n.379-15T>A) c.628-15T>A (n.628-15T>A) c.460-15T>A (n.460-15T>A) c.685-15T>A (n.685-15T>A) c.415-15T>A (n.415-15T>A) c.385-15T>A (n.385-15T>A) | dbSNP |
10 | g.13283855A= | CA1891546745 | PHYH | c.679-16T= (n.679-16T=) c.379-16T= (n.379-16T=) c.628-16T= (n.628-16T=) c.460-16T= (n.460-16T=) c.685-16T= (n.685-16T=) c.415-16T= (n.415-16T=) c.385-16T= (n.385-16T=) | |
10 | g.13283855A>C | CA1891546746 | PHYH | c.679-16T>G (n.679-16T>G) c.379-16T>G (n.379-16T>G) c.628-16T>G (n.628-16T>G) c.460-16T>G (n.460-16T>G) c.685-16T>G (n.685-16T>G) c.415-16T>G (n.415-16T>G) c.385-16T>G (n.385-16T>G) | dbSNP |
10 | g.13283856G>A | CA2608293067 | PHYH | c.679-17C>T (n.679-17C>T) c.379-17C>T (n.379-17C>T) c.628-17C>T (n.628-17C>T) c.460-17C>T (n.460-17C>T) c.685-17C>T (n.685-17C>T) c.415-17C>T (n.415-17C>T) c.385-17C>T (n.385-17C>T) | gnomAD v4 |
10 | g.13283857T>A | CA2786697226 | PHYH | c.679-18A>T (n.679-18A>T) c.379-18A>T (n.379-18A>T) c.628-18A>T (n.628-18A>T) c.460-18A>T (n.460-18A>T) c.685-18A>T (n.685-18A>T) c.415-18A>T (n.415-18A>T) c.385-18A>T (n.385-18A>T) | |
10 | g.13283857T>C | CA592075245 | PHYH | c.679-18A>G (n.679-18A>G) c.379-18A>G (n.379-18A>G) c.628-18A>G (n.628-18A>G) c.460-18A>G (n.460-18A>G) c.685-18A>G (n.685-18A>G) c.415-18A>G (n.415-18A>G) c.385-18A>G (n.385-18A>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.13283857T= | CA1891546748 | PHYH | c.679-18A= (n.679-18A=) c.379-18A= (n.379-18A=) c.628-18A= (n.628-18A=) c.460-18A= (n.460-18A=) c.685-18A= (n.685-18A=) c.415-18A= (n.415-18A=) c.385-18A= (n.385-18A=) |