Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.155294613_155294624delCA2746213714PKLRc.831_842del (p.Glu277_Val280del)
c.738_749del (p.Glu246_Val249del)
c.990_1001del (p.Glu330_Val333del)
c.639_650del (p.Glu213_Val216del)
1g.155294611C>ACA30903282PKLRc.836G>T (p.Gly279Val)
c.743G>T (p.Gly248Val)
c.995G>T (p.Gly332Val)
c.644G>T (p.Gly215Val)
 dbSNP
1g.155294611C=CA1200112225PKLRc.836G= (p.Gly279=)
c.743G= (p.Gly248=)
c.995G= (p.Gly332=)
c.644G= (p.Gly215=)
1g.155294611C>GCA342754239PKLRc.836G>C (p.Gly279Ala)
c.743G>C (p.Gly248Ala)
c.995G>C (p.Gly332Ala)
c.644G>C (p.Gly215Ala)
1g.155294611C>TCA1144195PKLRc.836G>A (p.Gly279Glu)
c.743G>A (p.Gly248Glu)
c.995G>A (p.Gly332Glu)
c.644G>A (p.Gly215Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294612C>ACA342754242PKLRc.835G>T (p.Gly279Trp)
c.742G>T (p.Gly248Trp)
c.994G>T (p.Gly332Trp)
c.643G>T (p.Gly215Trp)
1g.155294612C=CA1200112226PKLRc.835G= (p.Gly279=)
c.742G= (p.Gly248=)
c.994G= (p.Gly332=)
c.643G= (p.Gly215=)
1g.155294612C>GCA342754244PKLRc.835G>C (p.Gly279Arg)
c.742G>C (p.Gly248Arg)
c.994G>C (p.Gly332Arg)
c.643G>C (p.Gly215Arg)
1g.155294612C>TCA342754243PKLRc.835G>A (p.Gly279Arg)
c.742G>A (p.Gly248Arg)
c.994G>A (p.Gly332Arg)
c.643G>A (p.Gly215Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.155294613A=CA1200112227PKLRc.834T= (p.His278=)
c.741T= (p.His247=)
c.993T= (p.His331=)
c.642T= (p.His214=)
1g.155294613A>CCA342754246PKLRc.834T>G (p.His278Gln)
c.741T>G (p.His247Gln)
c.993T>G (p.His331Gln)
c.642T>G (p.His214Gln)
1g.155294613A>GCA1144196PKLRc.834T>C (p.His278=)
c.741T>C (p.His247=)
c.993T>C (p.His331=)
c.642T>C (p.His214=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294613A>TCA342754248PKLRc.834T>A (p.His278Gln)
c.741T>A (p.His247Gln)
c.993T>A (p.His331Gln)
c.642T>A (p.His214Gln)
1g.155294614T>ACA342754251PKLRc.833A>T (p.His278Leu)
c.740A>T (p.His247Leu)
c.992A>T (p.His331Leu)
c.641A>T (p.His214Leu)
 gnomAD v4
1g.155294614T>CCA342754253PKLRc.833A>G (p.His278Arg)
c.740A>G (p.His247Arg)
c.992A>G (p.His331Arg)
c.641A>G (p.His214Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.155294614T>GCA342754255PKLRc.833A>C (p.His278Pro)
c.740A>C (p.His247Pro)
c.992A>C (p.His331Pro)
c.641A>C (p.His214Pro)
1g.155294614T=CA1200112228PKLRc.833A= (p.His278=)
c.740A= (p.His247=)
c.992A= (p.His331=)
c.641A= (p.His214=)
1g.155294615G>ACA342754257PKLRc.832C>T (p.His278Tyr)
c.739C>T (p.His247Tyr)
c.991C>T (p.His331Tyr)
c.640C>T (p.His214Tyr)
 dbSNP gnomAD v2 gnomAD v4
1g.155294615G>CCA342754260PKLRc.832C>G (p.His278Asp)
c.739C>G (p.His247Asp)
c.991C>G (p.His331Asp)
c.640C>G (p.His214Asp)
1g.155294615G=CA1200112229PKLRc.832C= (p.His278=)
c.739C= (p.His247=)
c.991C= (p.His331=)
c.640C= (p.His214=)
1g.155294615G>TCA342754261PKLRc.832C>A (p.His278Asn)
c.739C>A (p.His247Asn)
c.991C>A (p.His331Asn)
c.640C>A (p.His214Asn)
1g.155294616C>ACA342754263PKLRc.831G>T (p.Glu277Asp)
c.738G>T (p.Glu246Asp)
c.990G>T (p.Glu330Asp)
c.639G>T (p.Glu213Asp)
1g.155294616C>GCA342754264PKLRc.831G>C (p.Glu277Asp)
c.738G>C (p.Glu246Asp)
c.990G>C (p.Glu330Asp)
c.639G>C (p.Glu213Asp)
1g.155294616C>TCA421245653PKLRc.831G>A (p.Glu277=)
c.738G>A (p.Glu246=)
c.990G>A (p.Glu330=)
c.639G>A (p.Glu213=)
 gnomAD v4
1g.155294617T>ACA342754265PKLRc.830A>T (p.Glu277Val)
c.737A>T (p.Glu246Val)
c.989A>T (p.Glu330Val)
c.638A>T (p.Glu213Val)
1g.155294617T>CCA342754266PKLRc.830A>G (p.Glu277Gly)
c.737A>G (p.Glu246Gly)
c.989A>G (p.Glu330Gly)
c.638A>G (p.Glu213Gly)
1g.155294617T>GCA342754267PKLRc.830A>C (p.Glu277Ala)
c.737A>C (p.Glu246Ala)
c.989A>C (p.Glu330Ala)
c.638A>C (p.Glu213Ala)
1g.155294618C>ACA342754269PKLRc.829G>T (p.Glu277Ter)
c.736G>T (p.Glu246Ter)
c.988G>T (p.Glu330Ter)
c.637G>T (p.Glu213Ter)
 ClinVar
1g.155294618C=CA1142193689PKLRc.829G= (p.Glu277=)
c.736G= (p.Glu246=)
c.988G= (p.Glu330=)
c.637G= (p.Glu213=)
1g.155294618C>GCA342754268PKLRc.829G>C (p.Glu277Gln)
c.736G>C (p.Glu246Gln)
c.988G>C (p.Glu330Gln)
c.637G>C (p.Glu213Gln)
1g.155294618C>TCA1144197PKLRc.829G>A (p.Glu277Lys)
c.736G>A (p.Glu246Lys)
c.988G>A (p.Glu330Lys)
c.637G>A (p.Glu213Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294619C>ACA421245658PKLRc.828G>T (p.Val276=)
c.735G>T (p.Val245=)
c.987G>T (p.Val329=)
c.636G>T (p.Val212=)
1g.155294619C=CA1200112230PKLRc.828G= (p.Val276=)
c.735G= (p.Val245=)
c.987G= (p.Val329=)
c.636G= (p.Val212=)
1g.155294619C>GCA421245659PKLRc.828G>C (p.Val276=)
c.735G>C (p.Val245=)
c.987G>C (p.Val329=)
c.636G>C (p.Val212=)
1g.155294619C>TCA421245660PKLRc.828G>A (p.Val276=)
c.735G>A (p.Val245=)
c.987G>A (p.Val329=)
c.636G>A (p.Val212=)
 dbSNP
1g.155294620A=CA1200112232PKLRc.827T= (p.Val276=)
c.734T= (p.Val245=)
c.986T= (p.Val329=)
c.635T= (p.Val212=)
1g.155294620A>CCA342754270PKLRc.827T>G (p.Val276Gly)
c.734T>G (p.Val245Gly)
c.986T>G (p.Val329Gly)
c.635T>G (p.Val212Gly)
1g.155294620A>GCA342754271PKLRc.827T>C (p.Val276Ala)
c.734T>C (p.Val245Ala)
c.986T>C (p.Val329Ala)
c.635T>C (p.Val212Ala)
 gnomAD v4
1g.155294620A>TCA342754272PKLRc.827T>A (p.Val276Glu)
c.734T>A (p.Val245Glu)
c.986T>A (p.Val329Glu)
c.635T>A (p.Val212Glu)
 dbSNP
1g.155294620_155294621delinsACCA1200112231PKLRc.826_827delinsGT (p.Val276=)
c.733_734delinsGT (p.Val245=)
c.985_986delinsGT (p.Val329=)
c.634_635delinsGT (p.Val212=)
1g.155294621C>ACA342754273PKLRc.826G>T (p.Val276Leu)
c.733G>T (p.Val245Leu)
c.985G>T (p.Val329Leu)
c.634G>T (p.Val212Leu)
1g.155294621C=CA1200112233PKLRc.826G= (p.Val276=)
c.733G= (p.Val245=)
c.985G= (p.Val329=)
c.634G= (p.Val212=)
1g.155294621C>GCA342754274PKLRc.826G>C (p.Val276Leu)
c.733G>C (p.Val245Leu)
c.985G>C (p.Val329Leu)
c.634G>C (p.Val212Leu)
1g.155294621C>TCA1144199PKLRc.826G>A (p.Val276Met)
c.733G>A (p.Val245Met)
c.985G>A (p.Val329Met)
c.634G>A (p.Val212Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294624_155294625insATGCTCCTCCCCCA2586967537PKLRc.826_827insAGGAGCATGGGG (p.Gly275_Val276insGluGluHisGly)
c.733_734insAGGAGCATGGGG (p.Gly244_Val245insGluGluHisGly)
c.985_986insAGGAGCATGGGG (p.Gly328_Val329insGluGluHisGly)
c.634_635insAGGAGCATGGGG (p.Gly211_Val212insGluGluHisGly)
 gnomAD v4
1g.155294624delCA1144198PKLRc.826del (p.Val276TrpfsTer?)
c.733del (p.Val245TrpfsTer?)
c.985del (p.Val329TrpfsTer?)
c.634del (p.Val212TrpfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294622C>ACA421245667PKLRc.825G>T (p.Gly275=)
c.732G>T (p.Gly244=)
c.984G>T (p.Gly328=)
c.633G>T (p.Gly211=)
 gnomAD v4
1g.155294622C>GCA421245664PKLRc.825G>C (p.Gly275=)
c.732G>C (p.Gly244=)
c.984G>C (p.Gly328=)
c.633G>C (p.Gly211=)
 gnomAD v4
1g.155294622C>TCA421245666PKLRc.825G>A (p.Gly275=)
c.732G>A (p.Gly244=)
c.984G>A (p.Gly328=)
c.633G>A (p.Gly211=)
1g.155294623C>ACA342754275PKLRc.824G>T (p.Gly275Val)
c.731G>T (p.Gly244Val)
c.983G>T (p.Gly328Val)
c.632G>T (p.Gly211Val)
1g.155294623C>GCA342754276PKLRc.824G>C (p.Gly275Ala)
c.731G>C (p.Gly244Ala)
c.983G>C (p.Gly328Ala)
c.632G>C (p.Gly211Ala)
 COSMIC
1g.155294623C>TCA342754277PKLRc.824G>A (p.Gly275Glu)
c.731G>A (p.Gly244Glu)
c.983G>A (p.Gly328Glu)
c.632G>A (p.Gly211Glu)
1g.155294624C>ACA342754278PKLRc.823G>T (p.Gly275Trp)
c.730G>T (p.Gly244Trp)
c.982G>T (p.Gly328Trp)
c.631G>T (p.Gly211Trp)
1g.155294624C=CA1148471349PKLRc.823G= (p.Gly275=)
c.730G= (p.Gly244=)
c.982G= (p.Gly328=)
c.631G= (p.Gly211=)
1g.155294624C>GCA1144200PKLRc.823G>C (p.Gly275Arg)
c.730G>C (p.Gly244Arg)
c.982G>C (p.Gly328Arg)
c.631G>C (p.Gly211Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294624C>TCA1144201PKLRc.823G>A (p.Gly275Arg)
c.730G>A (p.Gly244Arg)
c.982G>A (p.Gly328Arg)
c.631G>A (p.Gly211Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.155294625G>ACA421245670PKLRc.822C>T (p.Phe274=)
c.729C>T (p.Phe243=)
c.981C>T (p.Phe327=)
c.630C>T (p.Phe210=)
 dbSNP gnomAD v2 gnomAD v4
1g.155294625G>CCA342754279PKLRc.822C>G (p.Phe274Leu)
c.729C>G (p.Phe243Leu)
c.981C>G (p.Phe327Leu)
c.630C>G (p.Phe210Leu)
1g.155294625G=CA1200112234PKLRc.822C= (p.Phe274=)
c.729C= (p.Phe243=)
c.981C= (p.Phe327=)
c.630C= (p.Phe210=)
1g.155294625G>TCA342754280PKLRc.822C>A (p.Phe274Leu)
c.729C>A (p.Phe243Leu)
c.981C>A (p.Phe327Leu)
c.630C>A (p.Phe210Leu)
1g.155294626A>CCA342754281PKLRc.821T>G (p.Phe274Cys)
c.728T>G (p.Phe243Cys)
c.980T>G (p.Phe327Cys)
c.629T>G (p.Phe210Cys)
1g.155294626A>GCA342754282PKLRc.821T>C (p.Phe274Ser)
c.728T>C (p.Phe243Ser)
c.980T>C (p.Phe327Ser)
c.629T>C (p.Phe210Ser)
1g.155294626A>TCA342754283PKLRc.821T>A (p.Phe274Tyr)
c.728T>A (p.Phe243Tyr)
c.980T>A (p.Phe327Tyr)
c.629T>A (p.Phe210Tyr)
1g.155294627A>CCA342754284PKLRc.820T>G (p.Phe274Val)
c.727T>G (p.Phe243Val)
c.979T>G (p.Phe327Val)
c.628T>G (p.Phe210Val)
1g.155294627A>GCA342754285PKLRc.820T>C (p.Phe274Leu)
c.727T>C (p.Phe243Leu)
c.979T>C (p.Phe327Leu)
c.628T>C (p.Phe210Leu)
1g.155294627A>TCA342754286PKLRc.820T>A (p.Phe274Ile)
c.727T>A (p.Phe243Ile)
c.979T>A (p.Phe327Ile)
c.628T>A (p.Phe210Ile)
1g.155294628G>ACA421245674PKLRc.819C>T (p.Arg273=)
c.726C>T (p.Arg242=)
c.978C>T (p.Arg326=)
c.627C>T (p.Arg209=)
1g.155294628G>CCA421245675PKLRc.819C>G (p.Arg273=)
c.726C>G (p.Arg242=)
c.978C>G (p.Arg326=)
c.627C>G (p.Arg209=)
1g.155294628G>TCA421245676PKLRc.819C>A (p.Arg273=)
c.726C>A (p.Arg242=)
c.978C>A (p.Arg326=)
c.627C>A (p.Arg209=)
1g.155294629C>ACA342754290PKLRc.818G>T (p.Arg273Leu)
c.725G>T (p.Arg242Leu)
c.977G>T (p.Arg326Leu)
c.626G>T (p.Arg209Leu)
1g.155294629C=CA1141802474PKLRc.818G= (p.Arg273=)
c.725G= (p.Arg242=)
c.977G= (p.Arg326=)
c.626G= (p.Arg209=)
1g.155294629C>GCA342754291PKLRc.818G>C (p.Arg273Pro)
c.725G>C (p.Arg242Pro)
c.977G>C (p.Arg326Pro)
c.626G>C (p.Arg209Pro)
 dbSNP gnomAD v3 gnomAD v4
1g.155294629C>TCA1144202PKLRc.818G>A (p.Arg273His)
c.725G>A (p.Arg242His)
c.977G>A (p.Arg326His)
c.626G>A (p.Arg209His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294630G>ACA1144203PKLRc.817C>T (p.Arg273Cys)
c.724C>T (p.Arg242Cys)
c.976C>T (p.Arg326Cys)
c.625C>T (p.Arg209Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.155294630G>CCA342754298PKLRc.817C>G (p.Arg273Gly)
c.724C>G (p.Arg242Gly)
c.976C>G (p.Arg326Gly)
c.625C>G (p.Arg209Gly)
1g.155294630G=CA1148560049PKLRc.817C= (p.Arg273=)
c.724C= (p.Arg242=)
c.976C= (p.Arg326=)
c.625C= (p.Arg209=)
1g.155294630G>TCA342754295PKLRc.817C>A (p.Arg273Ser)
c.724C>A (p.Arg242Ser)
c.976C>A (p.Arg326Ser)
c.625C>A (p.Arg209Ser)
 gnomAD v4
1g.155294631C>ACA421245681PKLRc.816G>T (p.Leu272=)
c.723G>T (p.Leu241=)
c.975G>T (p.Leu325=)
c.624G>T (p.Leu208=)
1g.155294631C>GCA421245679PKLRc.816G>C (p.Leu272=)
c.723G>C (p.Leu241=)
c.975G>C (p.Leu325=)
c.624G>C (p.Leu208=)
1g.155294631C>TCA421245680PKLRc.816G>A (p.Leu272=)
c.723G>A (p.Leu241=)
c.975G>A (p.Leu325=)
c.624G>A (p.Leu208=)
1g.155294632A=CA1200112235PKLRc.815T= (p.Leu272=)
c.722T= (p.Leu241=)
c.974T= (p.Leu325=)
c.623T= (p.Leu208=)
1g.155294632A>CCA342754301PKLRc.815T>G (p.Leu272Arg)
c.722T>G (p.Leu241Arg)
c.974T>G (p.Leu325Arg)
c.623T>G (p.Leu208Arg)
1g.155294632A>GCA342754303PKLRc.815T>C (p.Leu272Pro)
c.722T>C (p.Leu241Pro)
c.974T>C (p.Leu325Pro)
c.623T>C (p.Leu208Pro)
 dbSNP gnomAD v3 gnomAD v4
1g.155294632A>TCA342754305PKLRc.815T>A (p.Leu272Gln)
c.722T>A (p.Leu241Gln)
c.974T>A (p.Leu325Gln)
c.623T>A (p.Leu208Gln)
1g.155294633G>ACA421245682PKLRc.814C>T (p.Leu272=)
c.721C>T (p.Leu241=)
c.973C>T (p.Leu325=)
c.622C>T (p.Leu208=)
1g.155294633G>CCA1144204PKLRc.814C>G (p.Leu272Val)
c.721C>G (p.Leu241Val)
c.973C>G (p.Leu325Val)
c.622C>G (p.Leu208Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294633G=CA1142192953PKLRc.814C= (p.Leu272=)
c.721C= (p.Leu241=)
c.973C= (p.Leu325=)
c.622C= (p.Leu208=)
1g.155294633G>TCA342754308PKLRc.814C>A (p.Leu272Met)
c.721C>A (p.Leu241Met)
c.973C>A (p.Leu325Met)
c.622C>A (p.Leu208Met)
1g.155294634G>ACA421245685PKLRc.813C>T (p.Asp271=)
c.720C>T (p.Asp240=)
c.972C>T (p.Asp324=)
c.621C>T (p.Asp207=)
1g.155294634G>CCA342754312PKLRc.813C>G (p.Asp271Glu)
c.720C>G (p.Asp240Glu)
c.972C>G (p.Asp324Glu)
c.621C>G (p.Asp207Glu)
1g.155294634G>TCA342754311PKLRc.813C>A (p.Asp271Glu)
c.720C>A (p.Asp240Glu)
c.972C>A (p.Asp324Glu)
c.621C>A (p.Asp207Glu)
 gnomAD v4
1g.155294635T>ACA342754316PKLRc.812A>T (p.Asp271Val)
c.719A>T (p.Asp240Val)
c.971A>T (p.Asp324Val)
c.620A>T (p.Asp207Val)
1g.155294635T>CCA342754317PKLRc.812A>G (p.Asp271Gly)
c.719A>G (p.Asp240Gly)
c.971A>G (p.Asp324Gly)
c.620A>G (p.Asp207Gly)
1g.155294635T>GCA342754319PKLRc.812A>C (p.Asp271Ala)
c.719A>C (p.Asp240Ala)
c.971A>C (p.Asp324Ala)
c.620A>C (p.Asp207Ala)
1g.155294636C>ACA342754321PKLRc.811G>T (p.Asp271Tyr)
c.718G>T (p.Asp240Tyr)
c.970G>T (p.Asp324Tyr)
c.619G>T (p.Asp207Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.155294636C=CA1200112236PKLRc.811G= (p.Asp271=)
c.718G= (p.Asp240=)
c.970G= (p.Asp324=)
c.619G= (p.Asp207=)
1g.155294636C>GCA342754323PKLRc.811G>C (p.Asp271His)
c.718G>C (p.Asp240His)
c.970G>C (p.Asp324His)
c.619G>C (p.Asp207His)
1g.155294636C>TCA342754325PKLRc.811G>A (p.Asp271Asn)
c.718G>A (p.Asp240Asn)
c.970G>A (p.Asp324Asn)
c.619G>A (p.Asp207Asn)
1g.155294637T>ACA421245695PKLRc.810A>T (p.Arg270=)
c.717A>T (p.Arg239=)
c.969A>T (p.Arg323=)
c.618A>T (p.Arg206=)
1g.155294637T>CCA421245690PKLRc.810A>G (p.Arg270=)
c.717A>G (p.Arg239=)
c.969A>G (p.Arg323=)
c.618A>G (p.Arg206=)
1g.155294637T>GCA421245692PKLRc.810A>C (p.Arg270=)
c.717A>C (p.Arg239=)
c.969A>C (p.Arg323=)
c.618A>C (p.Arg206=)
 gnomAD v4
1g.155294638C>ACA342754332PKLRc.809G>T (p.Arg270Leu)
c.716G>T (p.Arg239Leu)
c.968G>T (p.Arg323Leu)
c.617G>T (p.Arg206Leu)
 dbSNP gnomAD v4
1g.155294638C=CA1200112237PKLRc.809G= (p.Arg270=)
c.716G= (p.Arg239=)
c.968G= (p.Arg323=)
c.617G= (p.Arg206=)
1g.155294638C>GCA342754330PKLRc.809G>C (p.Arg270Pro)
c.716G>C (p.Arg239Pro)
c.968G>C (p.Arg323Pro)
c.617G>C (p.Arg206Pro)
 gnomAD v4
1g.155294638C>TCA342754327PKLRc.809G>A (p.Arg270Gln)
c.716G>A (p.Arg239Gln)
c.968G>A (p.Arg323Gln)
c.617G>A (p.Arg206Gln)
 gnomAD v4
1g.155294639G>ACA342754334PKLRc.808C>T (p.Arg270Ter)
c.715C>T (p.Arg239Ter)
c.967C>T (p.Arg323Ter)
c.616C>T (p.Arg206Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.155294639G>CCA1144206PKLRc.808C>G (p.Arg270Gly)
c.715C>G (p.Arg239Gly)
c.967C>G (p.Arg323Gly)
c.616C>G (p.Arg206Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294639G=CA1200112238PKLRc.808C= (p.Arg270=)
c.715C= (p.Arg239=)
c.967C= (p.Arg323=)
c.616C= (p.Arg206=)
1g.155294639G>TCA1144205PKLRc.808C>A (p.Arg270=)
c.715C>A (p.Arg239=)
c.967C>A (p.Arg323=)
c.616C>A (p.Arg206=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294640G>ACA421245696PKLRc.807C>T (p.Val269=)
c.714C>T (p.Val238=)
c.966C>T (p.Val322=)
c.615C>T (p.Val205=)
1g.155294640G>CCA421245697PKLRc.807C>G (p.Val269=)
c.714C>G (p.Val238=)
c.966C>G (p.Val322=)
c.615C>G (p.Val205=)
1g.155294640G>TCA421245698PKLRc.807C>A (p.Val269=)
c.714C>A (p.Val238=)
c.966C>A (p.Val322=)
c.615C>A (p.Val205=)
1g.155294641A=CA1200112239PKLRc.806T= (p.Val269=)
c.713T= (p.Val238=)
c.965T= (p.Val322=)
c.614T= (p.Val205=)
1g.155294641A>CCA342754339PKLRc.806T>G (p.Val269Gly)
c.713T>G (p.Val238Gly)
c.965T>G (p.Val322Gly)
c.614T>G (p.Val205Gly)
1g.155294641A>GCA1144207PKLRc.806T>C (p.Val269Ala)
c.713T>C (p.Val238Ala)
c.965T>C (p.Val322Ala)
c.614T>C (p.Val205Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294641A>TCA342754342PKLRc.806T>A (p.Val269Asp)
c.713T>A (p.Val238Asp)
c.965T>A (p.Val322Asp)
c.614T>A (p.Val205Asp)
 dbSNP gnomAD v4
1g.155294641_155294650delinsACGTCCTGCTCA1200112240PKLRc.797_806delinsAGCAGGACGT (p.Glu266=)
c.704_713delinsAGCAGGACGT (p.Glu235=)
c.956_965delinsAGCAGGACGT (p.Glu319=)
c.605_614delinsAGCAGGACGT (p.Glu202=)
1g.155294642C>ACA1144208PKLRc.805G>T (p.Val269Phe)
c.712G>T (p.Val238Phe)
c.964G>T (p.Val322Phe)
c.613G>T (p.Val205Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294642C=CA1143434322PKLRc.805G= (p.Val269=)
c.712G= (p.Val238=)
c.964G= (p.Val322=)
c.613G= (p.Val205=)
1g.155294642C>GCA342754345PKLRc.805G>C (p.Val269Leu)
c.712G>C (p.Val238Leu)
c.964G>C (p.Val322Leu)
c.613G>C (p.Val205Leu)
1g.155294642C>TCA342754346PKLRc.805G>A (p.Val269Ile)
c.712G>A (p.Val238Ile)
c.964G>A (p.Val322Ile)
c.613G>A (p.Val205Ile)
 gnomAD v4 COSMIC
1g.155294644_155294652delCA1007987022PKLRc.797_805del (p.Glu266_Asp268del)
c.704_712del (p.Glu235_Asp237del)
c.956_964del (p.Glu319_Asp321del)
c.605_613del (p.Glu202_Asp204del)
 dbSNP gnomAD v3 gnomAD v4
1g.155294643G>ACA1144209PKLRc.804C>T (p.Asp268=)
c.711C>T (p.Asp237=)
c.963C>T (p.Asp321=)
c.612C>T (p.Asp204=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294643G>CCA342754350PKLRc.804C>G (p.Asp268Glu)
c.711C>G (p.Asp237Glu)
c.963C>G (p.Asp321Glu)
c.612C>G (p.Asp204Glu)
1g.155294643G=CA1148006379PKLRc.804C= (p.Asp268=)
c.711C= (p.Asp237=)
c.963C= (p.Asp321=)
c.612C= (p.Asp204=)
1g.155294643G>TCA342754352PKLRc.804C>A (p.Asp268Glu)
c.711C>A (p.Asp237Glu)
c.963C>A (p.Asp321Glu)
c.612C>A (p.Asp204Glu)
 dbSNP gnomAD v4
1g.155294644T>ACA342754353PKLRc.803A>T (p.Asp268Val)
c.710A>T (p.Asp237Val)
c.962A>T (p.Asp321Val)
c.611A>T (p.Asp204Val)
1g.155294644T>CCA342754355PKLRc.803A>G (p.Asp268Gly)
c.710A>G (p.Asp237Gly)
c.962A>G (p.Asp321Gly)
c.611A>G (p.Asp204Gly)
1g.155294644T>GCA342754357PKLRc.803A>C (p.Asp268Ala)
c.710A>C (p.Asp237Ala)
c.962A>C (p.Asp321Ala)
c.611A>C (p.Asp204Ala)
1g.155294645C>ACA342754363PKLRc.802G>T (p.Asp268Tyr)
c.709G>T (p.Asp237Tyr)
c.961G>T (p.Asp321Tyr)
c.610G>T (p.Asp204Tyr)
1g.155294645C>GCA342754360PKLRc.802G>C (p.Asp268His)
c.709G>C (p.Asp237His)
c.961G>C (p.Asp321His)
c.610G>C (p.Asp204His)
1g.155294645C>TCA342754362PKLRc.802G>A (p.Asp268Asn)
c.709G>A (p.Asp237Asn)
c.961G>A (p.Asp321Asn)
c.610G>A (p.Asp204Asn)
1g.155294645_155294646insTCA2586967538PKLRc.801_802insA (p.Asp268ArgfsTer?)
c.708_709insA (p.Asp237ArgfsTer?)
c.960_961insA (p.Asp321ArgfsTer?)
c.609_610insA (p.Asp204ArgfsTer?)
1g.155294646C>ACA342754366PKLRc.801G>T (p.Gln267His)
c.708G>T (p.Gln236His)
c.960G>T (p.Gln320His)
c.609G>T (p.Gln203His)
1g.155294646C>GCA342754368PKLRc.801G>C (p.Gln267His)
c.708G>C (p.Gln236His)
c.960G>C (p.Gln320His)
c.609G>C (p.Gln203His)
1g.155294646C>TCA421245702PKLRc.801G>A (p.Gln267=)
c.708G>A (p.Gln236=)
c.960G>A (p.Gln320=)
c.609G>A (p.Gln203=)
1g.155294647T>ACA342754370PKLRc.800A>T (p.Gln267Leu)
c.707A>T (p.Gln236Leu)
c.959A>T (p.Gln320Leu)
c.608A>T (p.Gln203Leu)
1g.155294647T>CCA342754372PKLRc.800A>G (p.Gln267Arg)
c.707A>G (p.Gln236Arg)
c.959A>G (p.Gln320Arg)
c.608A>G (p.Gln203Arg)
1g.155294647T>GCA342754374PKLRc.800A>C (p.Gln267Pro)
c.707A>C (p.Gln236Pro)
c.959A>C (p.Gln320Pro)
c.608A>C (p.Gln203Pro)
1g.155294648G>ACA342754375PKLRc.799C>T (p.Gln267Ter)
c.706C>T (p.Gln236Ter)
c.958C>T (p.Gln320Ter)
c.607C>T (p.Gln203Ter)
 ClinVar dbSNP
1g.155294648G>CCA342754377PKLRc.799C>G (p.Gln267Glu)
c.706C>G (p.Gln236Glu)
c.958C>G (p.Gln320Glu)
c.607C>G (p.Gln203Glu)
1g.155294648G=CA1200112241PKLRc.799C= (p.Gln267=)
c.706C= (p.Gln236=)
c.958C= (p.Gln320=)
c.607C= (p.Gln203=)
1g.155294648G>TCA1144210PKLRc.799C>A (p.Gln267Lys)
c.706C>A (p.Gln236Lys)
c.958C>A (p.Gln320Lys)
c.607C>A (p.Gln203Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294649_155294661dupCA2648269429PKLRc.787_799dup (p.Gln267ArgfsTer?)
c.694_706dup (p.Gln236ArgfsTer?)
c.946_958dup (p.Gln320ArgfsTer?)
c.595_607dup (p.Gln203ArgfsTer?)
 gnomAD v4
1g.155294649C>ACA342754380PKLRc.798G>T (p.Glu266Asp)
c.705G>T (p.Glu235Asp)
c.957G>T (p.Glu319Asp)
c.606G>T (p.Glu202Asp)
1g.155294649C>GCA342754382PKLRc.798G>C (p.Glu266Asp)
c.705G>C (p.Glu235Asp)
c.957G>C (p.Glu319Asp)
c.606G>C (p.Glu202Asp)
1g.155294649C>TCA421245706PKLRc.798G>A (p.Glu266=)
c.705G>A (p.Glu235=)
c.957G>A (p.Glu319=)
c.606G>A (p.Glu202=)
 gnomAD v4
1g.155294650T>ACA342754386PKLRc.797A>T (p.Glu266Val)
c.704A>T (p.Glu235Val)
c.956A>T (p.Glu319Val)
c.605A>T (p.Glu202Val)
 gnomAD v4
1g.155294650T>CCA342754385PKLRc.797A>G (p.Glu266Gly)
c.704A>G (p.Glu235Gly)
c.956A>G (p.Glu319Gly)
c.605A>G (p.Glu202Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.155294650T>GCA342754384PKLRc.797A>C (p.Glu266Ala)
c.704A>C (p.Glu235Ala)
c.956A>C (p.Glu319Ala)
c.605A>C (p.Glu202Ala)
1g.155294650T=CA1200112242PKLRc.797A= (p.Glu266=)
c.704A= (p.Glu235=)
c.956A= (p.Glu319=)
c.605A= (p.Glu202=)
1g.155294651C>ACA342754387PKLRc.796G>T (p.Glu266Ter)
c.703G>T (p.Glu235Ter)
c.955G>T (p.Glu319Ter)
c.604G>T (p.Glu202Ter)
1g.155294651C=CA1200112243PKLRc.796G= (p.Glu266=)
c.703G= (p.Glu235=)
c.955G= (p.Glu319=)
c.604G= (p.Glu202=)
1g.155294651C>GCA342754388PKLRc.796G>C (p.Glu266Gln)
c.703G>C (p.Glu235Gln)
c.955G>C (p.Glu319Gln)
c.604G>C (p.Glu202Gln)
 dbSNP gnomAD v3 gnomAD v4
1g.155294651C>TCA342754390PKLRc.796G>A (p.Glu266Lys)
c.703G>A (p.Glu235Lys)
c.955G>A (p.Glu319Lys)
c.604G>A (p.Glu202Lys)
 gnomAD v4
1g.155294652G>ACA421245709PKLRc.795C>T (p.Ser265=)
c.702C>T (p.Ser234=)
c.954C>T (p.Ser318=)
c.603C>T (p.Ser201=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155294652G>CCA421245710PKLRc.795C>G (p.Ser265=)
c.702C>G (p.Ser234=)
c.954C>G (p.Ser318=)
c.603C>G (p.Ser201=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155294652G=CA1200112244PKLRc.795C= (p.Ser265=)
c.702C= (p.Ser234=)
c.954C= (p.Ser318=)
c.603C= (p.Ser201=)
1g.155294652G>TCA421245711PKLRc.795C>A (p.Ser265=)
c.702C>A (p.Ser234=)
c.954C>A (p.Ser318=)
c.603C>A (p.Ser201=)
 gnomAD v4
1g.155294653G>ACA342754393PKLRc.794C>T (p.Ser265Phe)
c.701C>T (p.Ser234Phe)
c.953C>T (p.Ser318Phe)
c.602C>T (p.Ser201Phe)
1g.155294653G>CCA30903364PKLRc.794C>G (p.Ser265Cys)
c.701C>G (p.Ser234Cys)
c.953C>G (p.Ser318Cys)
c.602C>G (p.Ser201Cys)
 dbSNP
1g.155294653G=CA1200112245PKLRc.794C= (p.Ser265=)
c.701C= (p.Ser234=)
c.953C= (p.Ser318=)
c.602C= (p.Ser201=)
1g.155294653G>TCA342754395PKLRc.794C>A (p.Ser265Tyr)
c.701C>A (p.Ser234Tyr)
c.953C>A (p.Ser318Tyr)
c.602C>A (p.Ser201Tyr)
1g.155294654A>CCA342754397PKLRc.793T>G (p.Ser265Ala)
c.700T>G (p.Ser234Ala)
c.952T>G (p.Ser318Ala)
c.601T>G (p.Ser201Ala)
1g.155294654A>GCA342754398PKLRc.793T>C (p.Ser265Pro)
c.700T>C (p.Ser234Pro)
c.952T>C (p.Ser318Pro)
c.601T>C (p.Ser201Pro)
1g.155294654A>TCA342754401PKLRc.793T>A (p.Ser265Thr)
c.700T>A (p.Ser234Thr)
c.952T>A (p.Ser318Thr)
c.601T>A (p.Ser201Thr)
1g.155294655C>ACA421245712PKLRc.792G>T (p.Leu264=)
c.699G>T (p.Leu233=)
c.951G>T (p.Leu317=)
c.600G>T (p.Leu200=)
1g.155294655C=CA1200112246PKLRc.792G= (p.Leu264=)
c.699G= (p.Leu233=)
c.951G= (p.Leu317=)
c.600G= (p.Leu200=)
1g.155294655C>GCA421245713PKLRc.792G>C (p.Leu264=)
c.699G>C (p.Leu233=)
c.951G>C (p.Leu317=)
c.600G>C (p.Leu200=)
 dbSNP gnomAD v4
1g.155294655C>TCA421245714PKLRc.792G>A (p.Leu264=)
c.699G>A (p.Leu233=)
c.951G>A (p.Leu317=)
c.600G>A (p.Leu200=)
 dbSNP gnomAD v2 gnomAD v4
1g.155294656_155294660delCA2586967539PKLRc.788_792del (p.Gly263ValfsTer?)
c.695_699del (p.Gly232ValfsTer?)
c.947_951del (p.Gly316ValfsTer?)
c.596_600del (p.Gly199ValfsTer?)
1g.155294656A>CCA342754403PKLRc.791T>G (p.Leu264Arg)
c.698T>G (p.Leu233Arg)
c.950T>G (p.Leu317Arg)
c.599T>G (p.Leu200Arg)
1g.155294656A>GCA342754405PKLRc.791T>C (p.Leu264Pro)
c.698T>C (p.Leu233Pro)
c.950T>C (p.Leu317Pro)
c.599T>C (p.Leu200Pro)
 gnomAD v4
1g.155294656A>TCA342754412PKLRc.791T>A (p.Leu264Gln)
c.698T>A (p.Leu233Gln)
c.950T>A (p.Leu317Gln)
c.599T>A (p.Leu200Gln)
1g.155294657G>ACA1144211PKLRc.790C>T (p.Leu264=)
c.697C>T (p.Leu233=)
c.949C>T (p.Leu317=)
c.598C>T (p.Leu200=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294657G>CCA342754418PKLRc.790C>G (p.Leu264Val)
c.697C>G (p.Leu233Val)
c.949C>G (p.Leu317Val)
c.598C>G (p.Leu200Val)
1g.155294657G=CA1143386169PKLRc.790C= (p.Leu264=)
c.697C= (p.Leu233=)
c.949C= (p.Leu317=)
c.598C= (p.Leu200=)
1g.155294657G>TCA342754415PKLRc.790C>A (p.Leu264Met)
c.697C>A (p.Leu233Met)
c.949C>A (p.Leu317Met)
c.598C>A (p.Leu200Met)
1g.155294658C>ACA421245716PKLRc.789G>T (p.Gly263=)
c.696G>T (p.Gly232=)
c.948G>T (p.Gly316=)
c.597G>T (p.Gly199=)
 dbSNP gnomAD v4
1g.155294658C=CA1200112247PKLRc.789G= (p.Gly263=)
c.696G= (p.Gly232=)
c.948G= (p.Gly316=)
c.597G= (p.Gly199=)
1g.155294658C>GCA421245715PKLRc.789G>C (p.Gly263=)
c.696G>C (p.Gly232=)
c.948G>C (p.Gly316=)
c.597G>C (p.Gly199=)
1g.155294658C>TCA421245717PKLRc.789G>A (p.Gly263=)
c.696G>A (p.Gly232=)
c.948G>A (p.Gly316=)
c.597G>A (p.Gly199=)
 dbSNP gnomAD v2 gnomAD v4
1g.155294659C>ACA342754422PKLRc.788G>T (p.Gly263Val)
c.695G>T (p.Gly232Val)
c.947G>T (p.Gly316Val)
c.596G>T (p.Gly199Val)
1g.155294659C=CA1200112248PKLRc.788G= (p.Gly263=)
c.695G= (p.Gly232=)
c.947G= (p.Gly316=)
c.596G= (p.Gly199=)
1g.155294659C>GCA342754425PKLRc.788G>C (p.Gly263Ala)
c.695G>C (p.Gly232Ala)
c.947G>C (p.Gly316Ala)
c.596G>C (p.Gly199Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.155294659C>TCA30903386PKLRc.788G>A (p.Gly263Glu)
c.695G>A (p.Gly232Glu)
c.947G>A (p.Gly316Glu)
c.596G>A (p.Gly199Glu)
 dbSNP COSMIC
1g.155294660C>ACA342754428PKLRc.787G>T (p.Gly263Trp)
c.694G>T (p.Gly232Trp)
c.946G>T (p.Gly316Trp)
c.595G>T (p.Gly199Trp)
1g.155294660C=CA1200112249PKLRc.787G= (p.Gly263=)
c.694G= (p.Gly232=)
c.946G= (p.Gly316=)
c.595G= (p.Gly199=)
1g.155294660C>GCA342754430PKLRc.787G>C (p.Gly263Arg)
c.694G>C (p.Gly232Arg)
c.946G>C (p.Gly316Arg)
c.595G>C (p.Gly199Arg)
 gnomAD v4
1g.155294660C>TCA342754432PKLRc.787G>A (p.Gly263Arg)
c.694G>A (p.Gly232Arg)
c.946G>A (p.Gly316Arg)
c.595G>A (p.Gly199Arg)
 dbSNP gnomAD v4 COSMIC
1g.155294661G>ACA30903392PKLRc.786C>T (p.Pro262=)
c.693C>T (p.Pro231=)
c.945C>T (p.Pro315=)
c.594C>T (p.Pro198=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155294661G>CCA421245718PKLRc.786C>G (p.Pro262=)
c.693C>G (p.Pro231=)
c.945C>G (p.Pro315=)
c.594C>G (p.Pro198=)
 COSMIC
1g.155294661G=CA1142233589PKLRc.786C= (p.Pro262=)
c.693C= (p.Pro231=)
c.945C= (p.Pro315=)
c.594C= (p.Pro198=)
1g.155294661G>TCA421245719PKLRc.786C>A (p.Pro262=)
c.693C>A (p.Pro231=)
c.945C>A (p.Pro315=)
c.594C>A (p.Pro198=)
1g.155294662G>ACA342754436PKLRc.785C>T (p.Pro262Leu)
c.692C>T (p.Pro231Leu)
c.944C>T (p.Pro315Leu)
c.593C>T (p.Pro198Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.155294662G>CCA342754438PKLRc.785C>G (p.Pro262Arg)
c.692C>G (p.Pro231Arg)
c.944C>G (p.Pro315Arg)
c.593C>G (p.Pro198Arg)
1g.155294662G=CA1200112250PKLRc.785C= (p.Pro262=)
c.692C= (p.Pro231=)
c.944C= (p.Pro315=)
c.593C= (p.Pro198=)
1g.155294662G>TCA342754439PKLRc.785C>A (p.Pro262His)
c.692C>A (p.Pro231His)
c.944C>A (p.Pro315His)
c.593C>A (p.Pro198His)
1g.155294663G>ACA342754442PKLRc.784C>T (p.Pro262Ser)
c.691C>T (p.Pro231Ser)
c.943C>T (p.Pro315Ser)
c.592C>T (p.Pro198Ser)
1g.155294663G>CCA342754443PKLRc.784C>G (p.Pro262Ala)
c.691C>G (p.Pro231Ala)
c.943C>G (p.Pro315Ala)
c.592C>G (p.Pro198Ala)
1g.155294663G>TCA342754445PKLRc.784C>A (p.Pro262Thr)
c.691C>A (p.Pro231Thr)
c.943C>A (p.Pro315Thr)
c.592C>A (p.Pro198Thr)
 gnomAD v4
1g.155294664C>ACA1144212PKLRc.783G>T (p.Leu261Phe)
c.690G>T (p.Leu230Phe)
c.942G>T (p.Leu314Phe)
c.591G>T (p.Leu197Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.155294664C=CA1200112251PKLRc.783G= (p.Leu261=)
c.690G= (p.Leu230=)
c.942G= (p.Leu314=)
c.591G= (p.Leu197=)
1g.155294664C>GCA342754448PKLRc.783G>C (p.Leu261Phe)
c.690G>C (p.Leu230Phe)
c.942G>C (p.Leu314Phe)
c.591G>C (p.Leu197Phe)
 gnomAD v4
1g.155294664C>TCA421245720PKLRc.783G>A (p.Leu261=)
c.690G>A (p.Leu230=)
c.942G>A (p.Leu314=)
c.591G>A (p.Leu197=)
 dbSNP gnomAD v3 gnomAD v4
1g.155294665A=CA1200112252PKLRc.782T= (p.Leu261=)
c.689T= (p.Leu230=)
c.941T= (p.Leu314=)
c.590T= (p.Leu197=)
1g.155294665A>CCA342754452PKLRc.782T>G (p.Leu261Trp)
c.689T>G (p.Leu230Trp)
c.941T>G (p.Leu314Trp)
c.590T>G (p.Leu197Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155294665A>GCA342754456PKLRc.782T>C (p.Leu261Ser)
c.689T>C (p.Leu230Ser)
c.941T>C (p.Leu314Ser)
c.590T>C (p.Leu197Ser)
1g.155294665A>TCA342754454PKLRc.782T>A (p.Leu261Ter)
c.689T>A (p.Leu230Ter)
c.941T>A (p.Leu314Ter)
c.590T>A (p.Leu197Ter)
1g.155294666A>CCA342754458PKLRc.781T>G (p.Leu261Val)
c.688T>G (p.Leu230Val)
c.940T>G (p.Leu314Val)
c.589T>G (p.Leu197Val)
1g.155294666A>GCA421245722PKLRc.781T>C (p.Leu261=)
c.688T>C (p.Leu230=)
c.940T>C (p.Leu314=)
c.589T>C (p.Leu197=)
1g.155294666A>TCA342754463PKLRc.781T>A (p.Leu261Met)
c.688T>A (p.Leu230Met)
c.940T>A (p.Leu314Met)
c.589T>A (p.Leu197Met)
1g.155294667G>ACA421245723PKLRc.780C>T (p.Asp260=)
c.687C>T (p.Asp229=)
c.939C>T (p.Asp313=)
c.588C>T (p.Asp196=)
 gnomAD v4
1g.155294667G>CCA342754465PKLRc.780C>G (p.Asp260Glu)
c.687C>G (p.Asp229Glu)
c.939C>G (p.Asp313Glu)
c.588C>G (p.Asp196Glu)
1g.155294667G=CA1200112253PKLRc.780C= (p.Asp260=)
c.687C= (p.Asp229=)
c.939C= (p.Asp313=)
c.588C= (p.Asp196=)
1g.155294667G>TCA1144213PKLRc.780C>A (p.Asp260Glu)
c.687C>A (p.Asp229Glu)
c.939C>A (p.Asp313Glu)
c.588C>A (p.Asp196Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294668T>ACA342754469PKLRc.779A>T (p.Asp260Val)
c.686A>T (p.Asp229Val)
c.938A>T (p.Asp313Val)
c.587A>T (p.Asp196Val)
1g.155294668T>CCA342754470PKLRc.779A>G (p.Asp260Gly)
c.686A>G (p.Asp229Gly)
c.938A>G (p.Asp313Gly)
c.587A>G (p.Asp196Gly)
1g.155294668T>GCA342754472PKLRc.779A>C (p.Asp260Ala)
c.686A>C (p.Asp229Ala)
c.938A>C (p.Asp313Ala)
c.587A>C (p.Asp196Ala)
1g.155294669C>ACA342754475PKLRc.778G>T (p.Asp260Tyr)
c.685G>T (p.Asp229Tyr)
c.937G>T (p.Asp313Tyr)
c.586G>T (p.Asp196Tyr)
1g.155294669C=CA1141751819PKLRc.778G= (p.Asp260=)
c.685G= (p.Asp229=)
c.937G= (p.Asp313=)
c.586G= (p.Asp196=)
1g.155294669C>GCA1144214PKLRc.778G>C (p.Asp260His)
c.685G>C (p.Asp229His)
c.937G>C (p.Asp313His)
c.586G>C (p.Asp196His)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294669C>TCA1144215PKLRc.778G>A (p.Asp260Asn)
c.685G>A (p.Asp229Asn)
c.937G>A (p.Asp313Asn)
c.586G>A (p.Asp196Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.155294670C>ACA421245727PKLRc.777G>T (p.Val259=)
c.684G>T (p.Val228=)
c.936G>T (p.Val312=)
c.585G>T (p.Val195=)
1g.155294670C>GCA421245728PKLRc.777G>C (p.Val259=)
c.684G>C (p.Val228=)
c.936G>C (p.Val312=)
c.585G>C (p.Val195=)
1g.155294670C>TCA421245729PKLRc.777G>A (p.Val259=)
c.684G>A (p.Val228=)
c.936G>A (p.Val312=)
c.585G>A (p.Val195=)
1g.155294671A>CCA342754479PKLRc.776T>G (p.Val259Gly)
c.683T>G (p.Val228Gly)
c.935T>G (p.Val312Gly)
c.584T>G (p.Val195Gly)
1g.155294671A>GCA342754481PKLRc.776T>C (p.Val259Ala)
c.683T>C (p.Val228Ala)
c.935T>C (p.Val312Ala)
c.584T>C (p.Val195Ala)
1g.155294671A>TCA342754482PKLRc.776T>A (p.Val259Glu)
c.683T>A (p.Val228Glu)
c.935T>A (p.Val312Glu)
c.584T>A (p.Val195Glu)
1g.155294672C>ACA342754484PKLRc.775G>T (p.Val259Leu)
c.682G>T (p.Val228Leu)
c.934G>T (p.Val312Leu)
c.583G>T (p.Val195Leu)
 dbSNP gnomAD v2
1g.155294672C=CA1200112254PKLRc.775G= (p.Val259=)
c.682G= (p.Val228=)
c.934G= (p.Val312=)
c.583G= (p.Val195=)
1g.155294672C>GCA342754487PKLRc.775G>C (p.Val259Leu)
c.682G>C (p.Val228Leu)
c.934G>C (p.Val312Leu)
c.583G>C (p.Val195Leu)
1g.155294672C>TCA30903403PKLRc.775G>A (p.Val259Met)
c.682G>A (p.Val228Met)
c.934G>A (p.Val312Met)
c.583G>A (p.Val195Met)
 dbSNP
1g.155294673C>ACA342754490PKLRc.774G>T (p.Gln258His)
c.681G>T (p.Gln227His)
c.933G>T (p.Gln311His)
c.582G>T (p.Gln194His)
1g.155294673C>GCA342754491PKLRc.774G>C (p.Gln258His)
c.681G>C (p.Gln227His)
c.933G>C (p.Gln311His)
c.582G>C (p.Gln194His)
1g.155294673C>TCA421245732PKLRc.774G>A (p.Gln258=)
c.681G>A (p.Gln227=)
c.933G>A (p.Gln311=)
c.582G>A (p.Gln194=)
 gnomAD v4
1g.155294674T>ACA342754495PKLRc.773A>T (p.Gln258Leu)
c.680A>T (p.Gln227Leu)
c.932A>T (p.Gln311Leu)
c.581A>T (p.Gln194Leu)
1g.155294674T>CCA342754496PKLRc.773A>G (p.Gln258Arg)
c.680A>G (p.Gln227Arg)
c.932A>G (p.Gln311Arg)
c.581A>G (p.Gln194Arg)
1g.155294674T>GCA342754498PKLRc.773A>C (p.Gln258Pro)
c.680A>C (p.Gln227Pro)
c.932A>C (p.Gln311Pro)
c.581A>C (p.Gln194Pro)
1g.155294675G>ACA342754501PKLRc.772C>T (p.Gln258Ter)
c.679C>T (p.Gln227Ter)
c.931C>T (p.Gln311Ter)
c.580C>T (p.Gln194Ter)
1g.155294675G>CCA342754502PKLRc.772C>G (p.Gln258Glu)
c.679C>G (p.Gln227Glu)
c.931C>G (p.Gln311Glu)
c.580C>G (p.Gln194Glu)
1g.155294675G>TCA342754503PKLRc.772C>A (p.Gln258Lys)
c.679C>A (p.Gln227Lys)
c.931C>A (p.Gln311Lys)
c.580C>A (p.Gln194Lys)
1g.155294676G>ACA421245734PKLRc.771C>T (p.Ala257=)
c.678C>T (p.Ala226=)
c.930C>T (p.Ala310=)
c.579C>T (p.Ala193=)
 gnomAD v4
1g.155294676G>CCA421245735PKLRc.771C>G (p.Ala257=)
c.678C>G (p.Ala226=)
c.930C>G (p.Ala310=)
c.579C>G (p.Ala193=)
1g.155294676G=CA1200112255PKLRc.771C= (p.Ala257=)
c.678C= (p.Ala226=)
c.930C= (p.Ala310=)
c.579C= (p.Ala193=)
1g.155294676G>TCA421245736PKLRc.771C>A (p.Ala257=)
c.678C>A (p.Ala226=)
c.930C>A (p.Ala310=)
c.579C>A (p.Ala193=)
 dbSNP gnomAD v2 gnomAD v4
1g.155294677G>ACA1144216PKLRc.770C>T (p.Ala257Val)
c.677C>T (p.Ala226Val)
c.929C>T (p.Ala310Val)
c.578C>T (p.Ala193Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294677G>CCA342754507PKLRc.770C>G (p.Ala257Gly)
c.677C>G (p.Ala226Gly)
c.929C>G (p.Ala310Gly)
c.578C>G (p.Ala193Gly)
1g.155294677G=CA1200112256PKLRc.770C= (p.Ala257=)
c.677C= (p.Ala226=)
c.929C= (p.Ala310=)
c.578C= (p.Ala193=)
1g.155294677G>TCA342754509PKLRc.770C>A (p.Ala257Asp)
c.677C>A (p.Ala226Asp)
c.929C>A (p.Ala310Asp)
c.578C>A (p.Ala193Asp)
1g.155294678C>ACA342754515PKLRc.769G>T (p.Ala257Ser)
c.676G>T (p.Ala226Ser)
c.928G>T (p.Ala310Ser)
c.577G>T (p.Ala193Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.155294678C=CA1200112257PKLRc.769G= (p.Ala257=)
c.676G= (p.Ala226=)
c.928G= (p.Ala310=)
c.577G= (p.Ala193=)
1g.155294678C>GCA342754513PKLRc.769G>C (p.Ala257Pro)
c.676G>C (p.Ala226Pro)
c.928G>C (p.Ala310Pro)
c.577G>C (p.Ala193Pro)
1g.155294678C>TCA1144217PKLRc.769G>A (p.Ala257Thr)
c.676G>A (p.Ala226Thr)
c.928G>A (p.Ala310Thr)
c.577G>A (p.Ala193Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294679C>ACA421245745PKLRc.768G>T (p.Gly256=)
c.675G>T (p.Gly225=)
c.927G>T (p.Gly309=)
c.576G>T (p.Gly192=)
1g.155294679C>GCA421245743PKLRc.768G>C (p.Gly256=)
c.675G>C (p.Gly225=)
c.927G>C (p.Gly309=)
c.576G>C (p.Gly192=)
1g.155294679C>TCA421245744PKLRc.768G>A (p.Gly256=)
c.675G>A (p.Gly225=)
c.927G>A (p.Gly309=)
c.576G>A (p.Gly192=)
1g.155294680C>ACA342754520PKLRc.767G>T (p.Gly256Val)
c.674G>T (p.Gly225Val)
c.926G>T (p.Gly309Val)
c.575G>T (p.Gly192Val)
1g.155294680C=CA1200112258PKLRc.767G= (p.Gly256=)
c.674G= (p.Gly225=)
c.926G= (p.Gly309=)
c.575G= (p.Gly192=)
1g.155294680C>GCA342754517PKLRc.767G>C (p.Gly256Ala)
c.674G>C (p.Gly225Ala)
c.926G>C (p.Gly309Ala)
c.575G>C (p.Gly192Ala)
1g.155294680C>TCA342754519PKLRc.767G>A (p.Gly256Glu)
c.674G>A (p.Gly225Glu)
c.926G>A (p.Gly309Glu)
c.575G>A (p.Gly192Glu)
 ClinVar dbSNP gnomAD v4
1g.155294681C>ACA342754523PKLRc.766G>T (p.Gly256Trp)
c.673G>T (p.Gly225Trp)
c.925G>T (p.Gly309Trp)
c.574G>T (p.Gly192Trp)
1g.155294681C>GCA342754524PKLRc.766G>C (p.Gly256Arg)
c.673G>C (p.Gly225Arg)
c.925G>C (p.Gly309Arg)
c.574G>C (p.Gly192Arg)
1g.155294681C>TCA342754526PKLRc.766G>A (p.Gly256Arg)
c.673G>A (p.Gly225Arg)
c.925G>A (p.Gly309Arg)
c.574G>A (p.Gly192Arg)
1g.155294682T>ACA421245748PKLRc.765A>T (p.Pro255=)
c.672A>T (p.Pro224=)
c.924A>T (p.Pro308=)
c.573A>T (p.Pro191=)
1g.155294682T>CCA1144218PKLRc.765A>G (p.Pro255=)
c.672A>G (p.Pro224=)
c.924A>G (p.Pro308=)
c.573A>G (p.Pro191=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294682T>GCA421245750PKLRc.765A>C (p.Pro255=)
c.672A>C (p.Pro224=)
c.924A>C (p.Pro308=)
c.573A>C (p.Pro191=)
1g.155294682T=CA1200112259PKLRc.765A= (p.Pro255=)
c.672A= (p.Pro224=)
c.924A= (p.Pro308=)
c.573A= (p.Pro191=)
1g.155294683G>ACA342754536PKLRc.764C>T (p.Pro255Leu)
c.671C>T (p.Pro224Leu)
c.923C>T (p.Pro308Leu)
c.572C>T (p.Pro191Leu)
1g.155294683G>CCA342754531PKLRc.764C>G (p.Pro255Arg)
c.671C>G (p.Pro224Arg)
c.923C>G (p.Pro308Arg)
c.572C>G (p.Pro191Arg)
1g.155294683G=CA1200112260PKLRc.764C= (p.Pro255=)
c.671C= (p.Pro224=)
c.923C= (p.Pro308=)
c.572C= (p.Pro191=)
1g.155294683G>TCA342754534PKLRc.764C>A (p.Pro255Gln)
c.671C>A (p.Pro224Gln)
c.923C>A (p.Pro308Gln)
c.572C>A (p.Pro191Gln)
 dbSNP
1g.155294684G>ACA342754538PKLRc.763C>T (p.Pro255Ser)
c.670C>T (p.Pro224Ser)
c.922C>T (p.Pro308Ser)
c.571C>T (p.Pro191Ser)
1g.155294684G>CCA342754540PKLRc.763C>G (p.Pro255Ala)
c.670C>G (p.Pro224Ala)
c.922C>G (p.Pro308Ala)
c.571C>G (p.Pro191Ala)
1g.155294684G>TCA342754541PKLRc.763C>A (p.Pro255Thr)
c.670C>A (p.Pro224Thr)
c.922C>A (p.Pro308Thr)
c.571C>A (p.Pro191Thr)
1g.155294685C>ACA342754543PKLRc.762G>T (p.Leu254Phe)
c.669G>T (p.Leu223Phe)
c.921G>T (p.Leu307Phe)
c.570G>T (p.Leu190Phe)
1g.155294685C=CA1200112261PKLRc.762G= (p.Leu254=)
c.669G= (p.Leu223=)
c.921G= (p.Leu307=)
c.570G= (p.Leu190=)
1g.155294685C>GCA342754544PKLRc.762G>C (p.Leu254Phe)
c.669G>C (p.Leu223Phe)
c.921G>C (p.Leu307Phe)
c.570G>C (p.Leu190Phe)
 ClinVar dbSNP
1g.155294685C>TCA30903412PKLRc.762G>A (p.Leu254=)
c.669G>A (p.Leu223=)
c.921G>A (p.Leu307=)
c.570G>A (p.Leu190=)
 dbSNP
1g.155294686A>CCA342754546PKLRc.761T>G (p.Leu254Trp)
c.668T>G (p.Leu223Trp)
c.920T>G (p.Leu307Trp)
c.569T>G (p.Leu190Trp)
1g.155294686A>GCA342754549PKLRc.761T>C (p.Leu254Ser)
c.668T>C (p.Leu223Ser)
c.920T>C (p.Leu307Ser)
c.569T>C (p.Leu190Ser)
1g.155294686A>TCA342754548PKLRc.761T>A (p.Leu254Ter)
c.668T>A (p.Leu223Ter)
c.920T>A (p.Leu307Ter)
c.569T>A (p.Leu190Ter)
1g.155294687A>CCA342754552PKLRc.760T>G (p.Leu254Val)
c.667T>G (p.Leu223Val)
c.919T>G (p.Leu307Val)
c.568T>G (p.Leu190Val)
1g.155294687A>GCA421245757PKLRc.760T>C (p.Leu254=)
c.667T>C (p.Leu223=)
c.919T>C (p.Leu307=)
c.568T>C (p.Leu190=)
1g.155294687A>TCA342754554PKLRc.760T>A (p.Leu254Met)
c.667T>A (p.Leu223Met)
c.919T>A (p.Leu307Met)
c.568T>A (p.Leu190Met)
1g.155294688G>ACA1144219PKLRc.759C>T (p.Asn253=)
c.666C>T (p.Asn222=)
c.918C>T (p.Asn306=)
c.567C>T (p.Asn189=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294688G>CCA342754557PKLRc.759C>G (p.Asn253Lys)
c.666C>G (p.Asn222Lys)
c.918C>G (p.Asn306Lys)
c.567C>G (p.Asn189Lys)
1g.155294688G=CA1200112262PKLRc.759C= (p.Asn253=)
c.666C= (p.Asn222=)
c.918C= (p.Asn306=)
c.567C= (p.Asn189=)
1g.155294688G>TCA342754559PKLRc.759C>A (p.Asn253Lys)
c.666C>A (p.Asn222Lys)
c.918C>A (p.Asn306Lys)
c.567C>A (p.Asn189Lys)
 gnomAD v4
1g.155294689T>ACA342754561PKLRc.758A>T (p.Asn253Ile)
c.665A>T (p.Asn222Ile)
c.917A>T (p.Asn306Ile)
c.566A>T (p.Asn189Ile)
1g.155294689T>CCA342754563PKLRc.758A>G (p.Asn253Ser)
c.665A>G (p.Asn222Ser)
c.917A>G (p.Asn306Ser)
c.566A>G (p.Asn189Ser)
1g.155294689T>GCA342754564PKLRc.758A>C (p.Asn253Thr)
c.665A>C (p.Asn222Thr)
c.917A>C (p.Asn306Thr)
c.566A>C (p.Asn189Thr)
1g.155294689_155294690delCA2648269434PKLRc.757_758del (p.Asn253LeufsTer?)
c.664_665del (p.Asn222LeufsTer?)
c.916_917del (p.Asn306LeufsTer?)
c.565_566del (p.Asn189LeufsTer?)
 gnomAD v4
1g.155294690T>ACA342754567PKLRc.757A>T (p.Asn253Tyr)
c.664A>T (p.Asn222Tyr)
c.916A>T (p.Asn306Tyr)
c.565A>T (p.Asn189Tyr)
 dbSNP
1g.155294690T>CCA342754569PKLRc.757A>G (p.Asn253Asp)
c.664A>G (p.Asn222Asp)
c.916A>G (p.Asn306Asp)
c.565A>G (p.Asn189Asp)
1g.155294690T>GCA342754570PKLRc.757A>C (p.Asn253His)
c.664A>C (p.Asn222His)
c.916A>C (p.Asn306His)
c.565A>C (p.Asn189His)
1g.155294690T=CA1200112263PKLRc.757A= (p.Asn253=)
c.664A= (p.Asn222=)
c.916A= (p.Asn306=)
c.565A= (p.Asn189=)
1g.155294691C>ACA421245761PKLRc.756G>T (p.Val252=)
c.663G>T (p.Val221=)
c.915G>T (p.Val305=)
c.564G>T (p.Val188=)
1g.155294691C=CA1148559084PKLRc.756G= (p.Val252=)
c.663G= (p.Val221=)
c.915G= (p.Val305=)
c.564G= (p.Val188=)
1g.155294691C>GCA1144220PKLRc.756G>C (p.Val252=)
c.663G>C (p.Val221=)
c.915G>C (p.Val305=)
c.564G>C (p.Val188=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294691C>TCA421245762PKLRc.756G>A (p.Val252=)
c.663G>A (p.Val221=)
c.915G>A (p.Val305=)
c.564G>A (p.Val188=)
1g.155294692A>CCA342754575PKLRc.755T>G (p.Val252Gly)
c.662T>G (p.Val221Gly)
c.914T>G (p.Val305Gly)
c.563T>G (p.Val188Gly)
1g.155294692A>GCA342754578PKLRc.755T>C (p.Val252Ala)
c.662T>C (p.Val221Ala)
c.914T>C (p.Val305Ala)
c.563T>C (p.Val188Ala)
1g.155294692A>TCA342754574PKLRc.755T>A (p.Val252Glu)
c.662T>A (p.Val221Glu)
c.914T>A (p.Val305Glu)
c.563T>A (p.Val188Glu)
1g.155294693C>ACA342754581PKLRc.754G>T (p.Val252Leu)
c.661G>T (p.Val221Leu)
c.913G>T (p.Val305Leu)
c.562G>T (p.Val188Leu)
1g.155294693C=CA1200112264PKLRc.754G= (p.Val252=)
c.661G= (p.Val221=)
c.913G= (p.Val305=)
c.562G= (p.Val188=)
1g.155294693C>GCA342754584PKLRc.754G>C (p.Val252Leu)
c.661G>C (p.Val221Leu)
c.913G>C (p.Val305Leu)
c.562G>C (p.Val188Leu)
1g.155294693C>TCA342754583PKLRc.754G>A (p.Val252Met)
c.661G>A (p.Val221Met)
c.913G>A (p.Val305Met)
c.562G>A (p.Val188Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.155294694G>ACA421245769PKLRc.753C>T (p.Gly251=)
c.660C>T (p.Gly220=)
c.912C>T (p.Gly304=)
c.561C>T (p.Gly187=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.155294694G>CCA421245770PKLRc.753C>G (p.Gly251=)
c.660C>G (p.Gly220=)
c.912C>G (p.Gly304=)
c.561C>G (p.Gly187=)
1g.155294694G=CA1200112265PKLRc.753C= (p.Gly251=)
c.660C= (p.Gly220=)
c.912C= (p.Gly304=)
c.561C= (p.Gly187=)
1g.155294694G>TCA421245771PKLRc.753C>A (p.Gly251=)
c.660C>A (p.Gly220=)
c.912C>A (p.Gly304=)
c.561C>A (p.Gly187=)
 dbSNP gnomAD v2 gnomAD v4
1g.155294695C>ACA342754588PKLRc.752G>T (p.Gly251Val)
c.659G>T (p.Gly220Val)
c.911G>T (p.Gly304Val)
c.560G>T (p.Gly187Val)
1g.155294695C>GCA342754589PKLRc.752G>C (p.Gly251Ala)
c.659G>C (p.Gly220Ala)
c.911G>C (p.Gly304Ala)
c.560G>C (p.Gly187Ala)
1g.155294695C>TCA342754590PKLRc.752G>A (p.Gly251Asp)
c.659G>A (p.Gly220Asp)
c.911G>A (p.Gly304Asp)
c.560G>A (p.Gly187Asp)
1g.155294696C>ACA30903450PKLRc.751G>T (p.Gly251Cys)
c.658G>T (p.Gly220Cys)
c.910G>T (p.Gly304Cys)
c.559G>T (p.Gly187Cys)
 dbSNP gnomAD v2
1g.155294696C=CA1143536925PKLRc.751G= (p.Gly251=)
c.658G= (p.Gly220=)
c.910G= (p.Gly304=)
c.559G= (p.Gly187=)
1g.155294696C>GCA342754593PKLRc.751G>C (p.Gly251Arg)
c.658G>C (p.Gly220Arg)
c.910G>C (p.Gly304Arg)
c.559G>C (p.Gly187Arg)
1g.155294696C>TCA30903451PKLRc.751G>A (p.Gly251Ser)
c.658G>A (p.Gly220Ser)
c.910G>A (p.Gly304Ser)
c.559G>A (p.Gly187Ser)
 dbSNP COSMIC
1g.155294697C>ACA342754596PKLRc.750G>T (p.Lys250Asn)
c.657G>T (p.Lys219Asn)
c.909G>T (p.Lys303Asn)
c.558G>T (p.Lys186Asn)
1g.155294697C>GCA342754598PKLRc.750G>C (p.Lys250Asn)
c.657G>C (p.Lys219Asn)
c.909G>C (p.Lys303Asn)
c.558G>C (p.Lys186Asn)
1g.155294697C>TCA421245777PKLRc.750G>A (p.Lys250=)
c.657G>A (p.Lys219=)
c.909G>A (p.Lys303=)
c.558G>A (p.Lys186=)
 dbSNP
1g.155294698T>ACA342754600PKLRc.749A>T (p.Lys250Met)
c.656A>T (p.Lys219Met)
c.908A>T (p.Lys303Met)
c.557A>T (p.Lys186Met)
1g.155294698T>CCA342754602PKLRc.749A>G (p.Lys250Arg)
c.656A>G (p.Lys219Arg)
c.908A>G (p.Lys303Arg)
c.557A>G (p.Lys186Arg)
1g.155294698T>GCA342754603PKLRc.749A>C (p.Lys250Thr)
c.656A>C (p.Lys219Thr)
c.908A>C (p.Lys303Thr)
c.557A>C (p.Lys186Thr)
1g.155294699T>ACA342754609PKLRc.748A>T (p.Lys250Ter)
c.655A>T (p.Lys219Ter)
c.907A>T (p.Lys303Ter)
c.556A>T (p.Lys186Ter)
1g.155294699T>CCA342754606PKLRc.748A>G (p.Lys250Glu)
c.655A>G (p.Lys219Glu)
c.907A>G (p.Lys303Glu)
c.556A>G (p.Lys186Glu)
 gnomAD v4
1g.155294699T>GCA342754607PKLRc.748A>C (p.Lys250Gln)
c.655A>C (p.Lys219Gln)
c.907A>C (p.Lys303Gln)
c.556A>C (p.Lys186Gln)
 gnomAD v4
1g.155294700C>ACA421245784PKLRc.747G>T (p.Arg249=)
c.654G>T (p.Arg218=)
c.906G>T (p.Arg302=)
c.555G>T (p.Arg185=)
 dbSNP
1g.155294700C=CA1200112266PKLRc.747G= (p.Arg249=)
c.654G= (p.Arg218=)
c.906G= (p.Arg302=)
c.555G= (p.Arg185=)
1g.155294700C>GCA421245779PKLRc.747G>C (p.Arg249=)
c.654G>C (p.Arg218=)
c.906G>C (p.Arg302=)
c.555G>C (p.Arg185=)
1g.155294700C>TCA1144221PKLRc.747G>A (p.Arg249=)
c.654G>A (p.Arg218=)
c.906G>A (p.Arg302=)
c.555G>A (p.Arg185=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294701C>ACA342754612PKLRc.746G>T (p.Arg249Leu)
c.653G>T (p.Arg218Leu)
c.905G>T (p.Arg302Leu)
c.554G>T (p.Arg185Leu)
1g.155294701C=CA1143623448PKLRc.746G= (p.Arg249=)
c.653G= (p.Arg218=)
c.905G= (p.Arg302=)
c.554G= (p.Arg185=)
1g.155294701C>GCA342754614PKLRc.746G>C (p.Arg249Pro)
c.653G>C (p.Arg218Pro)
c.905G>C (p.Arg302Pro)
c.554G>C (p.Arg185Pro)
1g.155294701C>TCA1144222PKLRc.746G>A (p.Arg249Gln)
c.653G>A (p.Arg218Gln)
c.905G>A (p.Arg302Gln)
c.554G>A (p.Arg185Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294702G>ACA1144223PKLRc.745C>T (p.Arg249Trp)
c.652C>T (p.Arg218Trp)
c.904C>T (p.Arg302Trp)
c.553C>T (p.Arg185Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294702G>CCA342754618PKLRc.745C>G (p.Arg249Gly)
c.652C>G (p.Arg218Gly)
c.904C>G (p.Arg302Gly)
c.553C>G (p.Arg185Gly)
1g.155294702G=CA1149054015PKLRc.745C= (p.Arg249=)
c.652C= (p.Arg218=)
c.904C= (p.Arg302=)
c.553C= (p.Arg185=)
1g.155294702G>TCA421245788PKLRc.745C>A (p.Arg249=)
c.652C>A (p.Arg218=)
c.904C>A (p.Arg302=)
c.553C>A (p.Arg185=)
1g.155294703G>ACA30903476PKLRc.744C>T (p.Ser248=)
c.651C>T (p.Ser217=)
c.903C>T (p.Ser301=)
c.552C>T (p.Ser184=)
 dbSNP
1g.155294703G>CCA342754619PKLRc.744C>G (p.Ser248Arg)
c.651C>G (p.Ser217Arg)
c.903C>G (p.Ser301Arg)
c.552C>G (p.Ser184Arg)
 gnomAD v4
1g.155294703G=CA1200112267PKLRc.744C= (p.Ser248=)
c.651C= (p.Ser217=)
c.903C= (p.Ser301=)
c.552C= (p.Ser184=)
1g.155294703G>TCA342754621PKLRc.744C>A (p.Ser248Arg)
c.651C>A (p.Ser217Arg)
c.903C>A (p.Ser301Arg)
c.552C>A (p.Ser184Arg)
1g.155294704C>ACA342754623PKLRc.743G>T (p.Ser248Ile)
c.650G>T (p.Ser217Ile)
c.902G>T (p.Ser301Ile)
c.551G>T (p.Ser184Ile)
1g.155294704C>GCA342754625PKLRc.743G>C (p.Ser248Thr)
c.650G>C (p.Ser217Thr)
c.902G>C (p.Ser301Thr)
c.551G>C (p.Ser184Thr)
1g.155294704C>TCA342754627PKLRc.743G>A (p.Ser248Asn)
c.650G>A (p.Ser217Asn)
c.902G>A (p.Ser301Asn)
c.551G>A (p.Ser184Asn)
1g.155294705T>ACA342754631PKLRc.742A>T (p.Ser248Cys)
c.649A>T (p.Ser217Cys)
c.901A>T (p.Ser301Cys)
c.550A>T (p.Ser184Cys)
1g.155294705T>CCA342754633PKLRc.742A>G (p.Ser248Gly)
c.649A>G (p.Ser217Gly)
c.901A>G (p.Ser301Gly)
c.550A>G (p.Ser184Gly)
1g.155294705T>GCA342754629PKLRc.742A>C (p.Ser248Arg)
c.649A>C (p.Ser217Arg)
c.901A>C (p.Ser301Arg)
c.550A>C (p.Ser184Arg)
1g.155294706G>ACA421245791PKLRc.741C>T (p.Gly247=)
c.648C>T (p.Gly216=)
c.900C>T (p.Gly300=)
c.549C>T (p.Gly183=)
 dbSNP gnomAD v2
1g.155294706G>CCA421245793PKLRc.741C>G (p.Gly247=)
c.648C>G (p.Gly216=)
c.900C>G (p.Gly300=)
c.549C>G (p.Gly183=)
1g.155294706G=CA1200112268PKLRc.741C= (p.Gly247=)
c.648C= (p.Gly216=)
c.900C= (p.Gly300=)
c.549C= (p.Gly183=)
1g.155294706G>TCA421245796PKLRc.741C>A (p.Gly247=)
c.648C>A (p.Gly216=)
c.900C>A (p.Gly300=)
c.549C>A (p.Gly183=)
1g.155294707C>ACA342754636PKLRc.740G>T (p.Gly247Val)
c.647G>T (p.Gly216Val)
c.899G>T (p.Gly300Val)
c.548G>T (p.Gly183Val)
1g.155294707C=CA1200112269PKLRc.740G= (p.Gly247=)
c.647G= (p.Gly216=)
c.899G= (p.Gly300=)
c.548G= (p.Gly183=)
1g.155294707C>GCA342754637PKLRc.740G>C (p.Gly247Ala)
c.647G>C (p.Gly216Ala)
c.899G>C (p.Gly300Ala)
c.548G>C (p.Gly183Ala)
1g.155294707C>TCA342754639PKLRc.740G>A (p.Gly247Asp)
c.647G>A (p.Gly216Asp)
c.899G>A (p.Gly300Asp)
c.548G>A (p.Gly183Asp)
 ClinVar dbSNP gnomAD v4 COSMIC
1g.155294708C>ACA342754641PKLRc.739G>T (p.Gly247Cys)
c.646G>T (p.Gly216Cys)
c.898G>T (p.Gly300Cys)
c.547G>T (p.Gly183Cys)
1g.155294708C=CA1200112270PKLRc.739G= (p.Gly247=)
c.646G= (p.Gly216=)
c.898G= (p.Gly300=)
c.547G= (p.Gly183=)
1g.155294708C>GCA342754643PKLRc.739G>C (p.Gly247Arg)
c.646G>C (p.Gly216Arg)
c.898G>C (p.Gly300Arg)
c.547G>C (p.Gly183Arg)
 gnomAD v4
1g.155294708C>TCA342754645PKLRc.739G>A (p.Gly247Ser)
c.646G>A (p.Gly216Ser)
c.898G>A (p.Gly300Ser)
c.547G>A (p.Gly183Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.155294709C>ACA421245799PKLRc.738G>T (p.Leu246=)
c.645G>T (p.Leu215=)
c.897G>T (p.Leu299=)
c.546G>T (p.Leu182=)
1g.155294709C>GCA421245801PKLRc.738G>C (p.Leu246=)
c.645G>C (p.Leu215=)
c.897G>C (p.Leu299=)
c.546G>C (p.Leu182=)
1g.155294709C>TCA421245803PKLRc.738G>A (p.Leu246=)
c.645G>A (p.Leu215=)
c.897G>A (p.Leu299=)
c.546G>A (p.Leu182=)
1g.155294710A>CCA342754651PKLRc.737T>G (p.Leu246Arg)
c.644T>G (p.Leu215Arg)
c.896T>G (p.Leu299Arg)
c.545T>G (p.Leu182Arg)
1g.155294710A>GCA342754647PKLRc.737T>C (p.Leu246Pro)
c.644T>C (p.Leu215Pro)
c.896T>C (p.Leu299Pro)
c.545T>C (p.Leu182Pro)
1g.155294710A>TCA342754649PKLRc.737T>A (p.Leu246Gln)
c.644T>A (p.Leu215Gln)
c.896T>A (p.Leu299Gln)
c.545T>A (p.Leu182Gln)
1g.155294711G>ACA421245807PKLRc.736C>T (p.Leu246=)
c.643C>T (p.Leu215=)
c.895C>T (p.Leu299=)
c.544C>T (p.Leu182=)
1g.155294711G>CCA342754652PKLRc.736C>G (p.Leu246Val)
c.643C>G (p.Leu215Val)
c.895C>G (p.Leu299Val)
c.544C>G (p.Leu182Val)
1g.155294711G>TCA342754653PKLRc.736C>A (p.Leu246Met)
c.643C>A (p.Leu215Met)
c.895C>A (p.Leu299Met)
c.544C>A (p.Leu182Met)

Number of alleles fetched