Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.13283765C>ACA376034203PHYHc.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)
10g.13283765C=CA1891546513PHYHc.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=)
10g.13283765C>GCA376034202PHYHc.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)
10g.13283765C>TCA203276320PHYHc.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
10g.13283766T>ACA376034204PHYHc.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)
10g.13283766T>CCA376034205PHYHc.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)
10g.13283766T>GCA376034207PHYHc.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)
10g.13283767C>ACA376034209PHYHc.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)
10g.13283767C>GCA376034211PHYHc.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)
10g.13283767C>TCA376034212PHYHc.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)
10g.13283768C>ACA376034215PHYHc.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)
10g.13283768C>GCA376034219PHYHc.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)
10g.13283768C>TCA376034217PHYHc.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)
10g.13283769A>CCA376034221PHYHc.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)
10g.13283769A>GCA376034223PHYHc.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)
10g.13283769A>TCA376034225PHYHc.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)
10g.13283770T>ACA376034227PHYHc.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)
10g.13283770T>CCA376034229PHYHc.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)
10g.13283770T>GCA376034231PHYHc.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)
10g.13283771C>ACA468237019PHYHc.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=)
10g.13283771C>GCA468237021PHYHc.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=)
10g.13283771C>TCA468237017PHYHc.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=)
10g.13283772A=CA1891546516PHYHc.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=)
10g.13283772A>CCA376034233PHYHc.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)
10g.13283772A>GCA5412246PHYHc.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
10g.13283772A>TCA376034236PHYHc.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)
10g.13283773C>ACA376034239PHYHc.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
10g.13283773C=CA1891546520PHYHc.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=)
10g.13283773C>GCA376034241PHYHc.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)
10g.13283773C>TCA376034242PHYHc.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)
10g.13283774C>ACA468237029PHYHc.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=)
10g.13283774C>GCA468237030PHYHc.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=)
10g.13283774C>TCA468237031PHYHc.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
10g.13283775A=CA1891546522PHYHc.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=)
10g.13283775A>CCA376034245PHYHc.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)
10g.13283775A>GCA376034249PHYHc.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
10g.13283775A>TCA376034247PHYHc.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)
10g.13283776G>ACA468237035PHYHc.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=)
10g.13283776G>CCA376034252PHYHc.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)
10g.13283776G>TCA376034253PHYHc.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)
10g.13283777G>ACA468237036PHYHc.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
10g.13283777G>CCA376034256PHYHc.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)
10g.13283777G>TCA376034258PHYHc.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
10g.13283778T>ACA376034260PHYHc.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)
10g.13283778T>CCA203276323PHYHc.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
10g.13283778T>GCA376034263PHYHc.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)
10g.13283778T=CA1891546525PHYHc.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=)
10g.13283779G>ACA376034266PHYHc.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
10g.13283779G>CCA376034267PHYHc.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)
10g.13283779G=CA1891546531PHYHc.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=)
10g.13283779G>TCA376034269PHYHc.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)
10g.13283781_13283788delCA2580081340PHYHc.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
10g.13283780C>ACA468237045PHYHc.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=)
10g.13283780C>GCA468237052PHYHc.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=)
10g.13283780C>TCA468237053PHYHc.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=)
10g.13283781A=CA1891546535PHYHc.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=)
10g.13283781A>CCA376034271PHYHc.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
10g.13283781A>GCA376034273PHYHc.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)
10g.13283781A>TCA376034275PHYHc.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)
10g.13283782C>ACA376034278PHYHc.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
10g.13283782C=CA1891546538PHYHc.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=)
10g.13283782C>GCA376034282PHYHc.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
10g.13283782C>TCA376034280PHYHc.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
10g.13283784delCA2574492071PHYHc.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)
10g.13283783C>ACA468237063PHYHc.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
10g.13283783C=CA1891546540PHYHc.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=)
10g.13283783C>GCA468237065PHYHc.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=)
10g.13283783C>TCA468237067PHYHc.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
10g.13283784C>ACA376034284PHYHc.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)
10g.13283784C=CA1891546543PHYHc.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=)
10g.13283784C>GCA376034286PHYHc.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)
10g.13283784C>TCA203488PHYHc.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
10g.13283784_13283785delinsTACA2739265289PHYHc.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
10g.13283785G>ACA5412247PHYHc.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
10g.13283785G>CCA376034289PHYHc.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)
10g.13283785G=CA1891546551PHYHc.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=)
10g.13283785G>TCA468237073PHYHc.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=)
10g.13283786G>ACA468237077PHYHc.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
10g.13283786G>CCA468237079PHYHc.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=)
10g.13283786G>TCA468237081PHYHc.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=)
10g.13283787G>ACA376034291PHYHc.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
10g.13283787G>CCA5412248PHYHc.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
10g.13283787G=CA1891546554PHYHc.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=)
10g.13283787G>TCA376034294PHYHc.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
10g.13283788C>ACA376034296PHYHc.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)
10g.13283788C>GCA376034298PHYHc.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)
10g.13283788C>TCA376034300PHYHc.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)
10g.13283789C>ACA376034304PHYHc.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)
10g.13283789C>GCA376034302PHYHc.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)
10g.13283789C>TCA468237092PHYHc.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=)
10g.13283790T>ACA376034306PHYHc.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)
10g.13283790T>CCA376034308PHYHc.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)
10g.13283790T>GCA376034310PHYHc.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)
10g.13283791T>ACA376034311PHYHc.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)
10g.13283791T>CCA376034314PHYHc.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)
10g.13283791T>GCA376034315PHYHc.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)
10g.13283792G>ACA468237099PHYHc.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=)
10g.13283792G>CCA376034318PHYHc.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)
10g.13283792G>TCA376034319PHYHc.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)
10g.13283793T>ACA376034321PHYHc.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)
10g.13283793T>CCA376034323PHYHc.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
10g.13283793T>GCA376034325PHYHc.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)
10g.13283796delCA2721019232PHYHc.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
10g.13283794T>ACA376034327PHYHc.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)
10g.13283794T>CCA376034329PHYHc.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
10g.13283794T>GCA376034331PHYHc.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)
10g.13283795T>ACA376034336PHYHc.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)
10g.13283795T>CCA468237107PHYHc.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=)
10g.13283795T>GCA376034333PHYHc.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)
10g.13283796T>ACA376034338PHYHc.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)
10g.13283796T>CCA5412249PHYHc.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
10g.13283796T>GCA376034341PHYHc.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)
10g.13283796T=CA1891546558PHYHc.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=)
10g.13283797C>ACA376034343PHYHc.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)
10g.13283797C=CA1891546562PHYHc.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=)
10g.13283797C>GCA376034345PHYHc.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)
10g.13283797C>TCA5412250PHYHc.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
10g.13283798C>ACA376034351PHYHc.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)
10g.13283798C>GCA376034349PHYHc.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)
10g.13283798C>TCA468237118PHYHc.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
10g.13283799T>ACA376034353PHYHc.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)
10g.13283799T>CCA203276347PHYHc.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
10g.13283799T>GCA376034356PHYHc.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)
10g.13283799T=CA1891546563PHYHc.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=)
10g.13283800C>ACA376034359PHYHc.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
10g.13283800C=CA1891546567PHYHc.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=)
10g.13283800C>GCA376034361PHYHc.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)
10g.13283800C>TCA5412251PHYHc.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
10g.13283801G>ACA180294PHYHc.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
10g.13283801G>CCA376034364PHYHc.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
10g.13283801G=CA1891546572PHYHc.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=)
10g.13283801G>TCA376034366PHYHc.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)
10g.13283802T>ACA376034369PHYHc.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)
10g.13283802T>CCA203276360PHYHc.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
10g.13283802T>GCA376034371PHYHc.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)
10g.13283802T=CA1891546582PHYHc.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=)
10g.13283803A>CCA376034374PHYHc.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)
10g.13283803A>GCA376034376PHYHc.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)
10g.13283803A>TCA376034377PHYHc.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)
10g.13283804G>ACA468237129PHYHc.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=)
10g.13283804G>CCA376034379PHYHc.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
10g.13283804G>TCA376034381PHYHc.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)
10g.13283805T>ACA376034383PHYHc.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
10g.13283805T>CCA376034385PHYHc.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)
10g.13283805T>GCA376034387PHYHc.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)
10g.13283806C>ACA376034389PHYHc.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
10g.13283806C=CA1891546584PHYHc.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=)
10g.13283806C>GCA376034391PHYHc.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
10g.13283806C>TCA376034393PHYHc.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
10g.13283807C>ACA376034396PHYHc.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)
10g.13283807C>GCA376034395PHYHc.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)
10g.13283807C>TCA468237139PHYHc.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
10g.13283808T>ACA376034399PHYHc.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)
10g.13283808T>CCA376034401PHYHc.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)
10g.13283808T>GCA376034403PHYHc.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)
10g.13283809G>ACA376034405PHYHc.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
10g.13283809G>CCA376034407PHYHc.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)
10g.13283809G=CA1891546626PHYHc.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=)
10g.13283809G>TCA376034409PHYHc.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)
10g.13283810G>ACA468237150PHYHc.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
10g.13283810G>CCA376034410PHYHc.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
10g.13283810G=CA1891546629PHYHc.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=)
10g.13283810G>TCA468237149PHYHc.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=)
10g.13283811A>CCA376034412PHYHc.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)
10g.13283811A>GCA376034414PHYHc.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)
10g.13283811A>TCA376034416PHYHc.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)
10g.13283812T>ACA376034419PHYHc.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)
10g.13283812T>CCA376034420PHYHc.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)
10g.13283812T>GCA376034422PHYHc.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)
10g.13283813C>ACA468237158PHYHc.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=)
10g.13283813C=CA1891546633PHYHc.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=)
10g.13283813C>GCA468237159PHYHc.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
10g.13283813C>TCA468237157PHYHc.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=)
10g.13283815delCA2574492088PHYHc.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)
10g.13283814C>ACA376034425PHYHc.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
10g.13283814C>GCA376034427PHYHc.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)
10g.13283814C>TCA376034426PHYHc.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
10g.13283815C>ACA376034430PHYHc.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)
10g.13283815C=CA1891546638PHYHc.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=)
10g.13283815C>GCA376034433PHYHc.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)
10g.13283815C>TCA5412252PHYHc.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
10g.13283815_13283816insACA2786697223PHYHc.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?)
10g.13283816G>ACA5412253PHYHc.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
10g.13283816G>CCA376034436PHYHc.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
10g.13283816G=CA1891546646PHYHc.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=)
10g.13283816G>TCA376034438PHYHc.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
10g.13283817T>ACA376034441PHYHc.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)
10g.13283817T>CCA376034442PHYHc.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)
10g.13283817T>GCA376034445PHYHc.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)
10g.13283818G>ACA5412254PHYHc.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
10g.13283818G>CCA376034448PHYHc.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)
10g.13283818G=CA1891546651PHYHc.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=)
10g.13283818G>TCA376034450PHYHc.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)
10g.13283818_13283819delinsAACA645560873PHYHc.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
10g.13283819G>ACA468237174PHYHc.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
10g.13283819G>CCA376034452PHYHc.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)
10g.13283819G>TCA376034454PHYHc.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)
10g.13283820A>CCA376034460PHYHc.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)
10g.13283820A>GCA376034458PHYHc.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)
10g.13283820A>TCA376034457PHYHc.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)
10g.13283821A>CCA376034462PHYHc.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)
10g.13283821A>GCA376034464PHYHc.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)
10g.13283821A>TCA376034466PHYHc.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)
10g.13283822C>ACA376034469PHYHc.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)
10g.13283822C>GCA376034471PHYHc.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)
10g.13283822C>TCA376034472PHYHc.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)
10g.13283823A=CA1891546657PHYHc.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=)
10g.13283823A>CCA376034474PHYHc.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)
10g.13283823A>GCA376034476PHYHc.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
10g.13283823A>TCA376034478PHYHc.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)
10g.13283823_13283824delinsATCA1891546658PHYHc.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=)
10g.13283824T>ACA376034480PHYHc.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)
10g.13283824T>CCA376034482PHYHc.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)
10g.13283824T>GCA376034484PHYHc.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)
10g.13283827delCA1891546662PHYHc.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
10g.13283825T>ACA376034486PHYHc.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)
10g.13283825T>CCA468237188PHYHc.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=)
10g.13283825T>GCA376034488PHYHc.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)
10g.13283825_13283828delinsTTTGCA1891546664PHYHc.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=)
10g.13283826T>ACA376034490PHYHc.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)
10g.13283826T>CCA5412255PHYHc.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
10g.13283826T>GCA376034493PHYHc.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)
10g.13283826T=CA1891546668PHYHc.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=)
10g.13283828_13283830delCA661899089PHYHc.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
10g.13283827T>ACA376034495PHYHc.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)
10g.13283827T>CCA376034497PHYHc.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)
10g.13283827T>GCA376034499PHYHc.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)
10g.13283827_13283828delinsTGCA1891546673PHYHc.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=)
10g.13283828delCA1891546675PHYHc.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
10g.13283828G>ACA468237195PHYHc.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
10g.13283828G>CCA376034503PHYHc.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)
10g.13283828G=CA1891546677PHYHc.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=)
10g.13283828G>TCA376034501PHYHc.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)
10g.13283829T>ACA376034505PHYHc.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)
10g.13283829T>CCA376034507PHYHc.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)
10g.13283829T>GCA376034509PHYHc.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)
10g.13283830T>ACA376034512PHYHc.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)
10g.13283830T>CCA376034513PHYHc.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)
10g.13283830T>GCA376034516PHYHc.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)
10g.13283831A>CCA468237206PHYHc.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=)
10g.13283831A>GCA468237207PHYHc.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=)
10g.13283831A>TCA468237210PHYHc.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=)
10g.13283831_13283832delCA2580081343PHYHc.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
10g.13283832A>CCA376034518PHYHc.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)
10g.13283832A>GCA376034522PHYHc.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)
10g.13283832A>TCA376034520PHYHc.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)
10g.13283833C>ACA376034525PHYHc.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)
10g.13283833C>GCA376034526PHYHc.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)
10g.13283833C>TCA376034528PHYHc.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)
10g.13283834delCA2580081344PHYHc.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
10g.13283834T>ACA468237222PHYHc.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=)
10g.13283834T>CCA468237223PHYHc.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=)
10g.13283834T>GCA468237221PHYHc.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=)
10g.13283834T=CA1891546680PHYHc.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=)
10g.13283835C>ACA5412258PHYHc.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
10g.13283835C=CA1891546688PHYHc.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=)
10g.13283835C>GCA203276388PHYHc.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
10g.13283835C>TCA5412257PHYHc.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
10g.13283840dupCA5412256PHYHc.683dup
c.383dup
c.632dup
c.464dup
c.689dup
c.419dup
c.389dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.13283839_13283840dupCA2786697224PHYHc.682_683dup
c.382_383dup
c.631_632dup
c.463_464dup
c.688_689dup
c.418_419dup
c.388_389dup
10g.13283840delCA468237228PHYHc.683del
c.383del
c.632del
c.464del
c.689del
c.419del
c.389del
 gnomAD v4 COSMIC
10g.13283836C>ACA376034535PHYHc.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)
10g.13283836C>GCA376034537PHYHc.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)
10g.13283836C>TCA376034539PHYHc.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
10g.13283837C>ACA468237229PHYHc.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=)
10g.13283837C=CA1891546695PHYHc.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=)
10g.13283837C>GCA468237230PHYHc.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
10g.13283837C>TCA5412259PHYHc.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
10g.13283838C>ACA376034545PHYHc.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)
10g.13283838C=CA1891546700PHYHc.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=)
10g.13283838C>GCA203276397PHYHc.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
10g.13283838C>TCA376034543PHYHc.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
10g.13283839C>ACA5412260PHYHc.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
10g.13283839C=CA1891546706PHYHc.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=)
10g.13283839C>GCA5412261PHYHc.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
10g.13283839C>TCA5412262PHYHc.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
10g.13283840C>ACA5412263PHYHc.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
10g.13283840C=CA1891546717PHYHc.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=)
10g.13283840C>GCA376034555PHYHc.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)
10g.13283840C>TCA376034553PHYHc.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)
10g.13283841delCA2574492102PHYHc.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
10g.13283841T>ACA376034558PHYHc.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)
10g.13283841T>CCA376034559PHYHc.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)
10g.13283841T>GCA376034561PHYHc.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
10g.13283842A=CA1891546720PHYHc.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=)
10g.13283842A>CCA592075236PHYHc.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
10g.13283842A>TCA5412264PHYHc.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
10g.13283845A=CA1891546722PHYHc.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=)
10g.13283845A>GCA592075239PHYHc.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
10g.13283846C>TCA2574492103PHYHc.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
10g.13283848A=CA1891546724PHYHc.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=)
10g.13283848A>GCA592075240PHYHc.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
10g.13283849G>CCA2608293066PHYHc.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
10g.13283850A=CA1891546730PHYHc.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=)
10g.13283850A>TCA10634934PHYHc.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
10g.13283851G>ACA5412265PHYHc.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
10g.13283851G=CA1891546735PHYHc.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=)
10g.13283852delCA2786697225PHYHc.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)
10g.13283852G>ACA661899167PHYHc.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
10g.13283852G=CA1891546737PHYHc.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=)
10g.13283852G>TCA2574492104PHYHc.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
10g.13283853C=CA1891546739PHYHc.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=)
10g.13283853C>TCA5412266PHYHc.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
10g.13283854A=CA1891546744PHYHc.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=)
10g.13283854A>CCA2574492105PHYHc.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)
10g.13283854A>TCA661899175PHYHc.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
10g.13283855A=CA1891546745PHYHc.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=)
10g.13283855A>CCA1891546746PHYHc.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
10g.13283856G>ACA2608293067PHYHc.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
10g.13283857T>ACA2786697226PHYHc.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)
10g.13283857T>CCA592075245PHYHc.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
10g.13283857T=CA1891546748PHYHc.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=)
10g.13283859A=CA1891546751PHYHc.679-20T= (n.679-20T=)
c.379-20T= (n.379-20T=)
c.628-20T= (n.628-20T=)
c.460-20T= (n.460-20T=)
c.685-20T= (n.685-20T=)
c.415-20T= (n.415-20T=)
c.385-20T= (n.385-20T=)
10g.13283859A>GCA2786697227PHYHc.679-20T>C (n.679-20T>C)
c.379-20T>C (n.379-20T>C)
c.628-20T>C (n.628-20T>C)
c.460-20T>C (n.460-20T>C)
c.685-20T>C (n.685-20T>C)
c.415-20T>C (n.415-20T>C)
c.385-20T>C (n.385-20T>C)
10g.13283859A>TCA5412267PHYHc.679-20T>A (n.679-20T>A)
c.379-20T>A (n.379-20T>A)
c.628-20T>A (n.628-20T>A)
c.460-20T>A (n.460-20T>A)
c.685-20T>A (n.685-20T>A)
c.415-20T>A (n.415-20T>A)
c.385-20T>A (n.385-20T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.13283860A=CA1891546753PHYHc.679-21T= (n.679-21T=)
c.379-21T= (n.379-21T=)
c.628-21T= (n.628-21T=)
c.460-21T= (n.460-21T=)
c.685-21T= (n.685-21T=)
c.415-21T= (n.415-21T=)
c.385-21T= (n.385-21T=)
10g.13283860A>GCA5412268PHYHc.679-21T>C (n.679-21T>C)
c.379-21T>C (n.379-21T>C)
c.628-21T>C (n.628-21T>C)
c.460-21T>C (n.460-21T>C)
c.685-21T>C (n.685-21T>C)
c.415-21T>C (n.415-21T>C)
c.385-21T>C (n.385-21T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.13283861G>TCA2608293068PHYHc.679-22C>A (n.679-22C>A)
c.379-22C>A (n.379-22C>A)
c.628-22C>A (n.628-22C>A)
c.460-22C>A (n.460-22C>A)
c.685-22C>A (n.685-22C>A)
c.415-22C>A (n.415-22C>A)
c.385-22C>A (n.385-22C>A)
 gnomAD v4
10g.13283864T>CCA5412269PHYHc.679-25A>G (n.679-25A>G)
c.379-25A>G (n.379-25A>G)
c.628-25A>G (n.628-25A>G)
c.460-25A>G (n.460-25A>G)
c.685-25A>G (n.685-25A>G)
c.415-25A>G (n.415-25A>G)
c.385-25A>G (n.385-25A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.13283864T=CA1891546755PHYHc.679-25A= (n.679-25A=)
c.379-25A= (n.379-25A=)
c.628-25A= (n.628-25A=)
c.460-25A= (n.460-25A=)
c.685-25A= (n.685-25A=)
c.415-25A= (n.415-25A=)
c.385-25A= (n.385-25A=)
10g.13283865A>CCA2786697228PHYHc.679-26T>G (n.679-26T>G)
c.379-26T>G (n.379-26T>G)
c.628-26T>G (n.628-26T>G)
c.460-26T>G (n.460-26T>G)
c.685-26T>G (n.685-26T>G)
c.415-26T>G (n.415-26T>G)
c.385-26T>G (n.385-26T>G)
10g.13283865A>TCA2608293069PHYHc.679-26T>A (n.679-26T>A)
c.379-26T>A (n.379-26T>A)
c.628-26T>A (n.628-26T>A)
c.460-26T>A (n.460-26T>A)
c.685-26T>A (n.685-26T>A)
c.415-26T>A (n.415-26T>A)
c.385-26T>A (n.385-26T>A)
 gnomAD v4

Number of alleles fetched