Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.155294511G>ACA421245520PKLRc.936C>T (p.Ser312=)
c.843C>T (p.Ser281=)
c.1095C>T (p.Ser365=)
c.744C>T (p.Ser248=)
1g.155294511G>CCA342753791PKLRc.936C>G (p.Ser312Arg)
c.843C>G (p.Ser281Arg)
c.1095C>G (p.Ser365Arg)
c.744C>G (p.Ser248Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155294511G=CA1200112196PKLRc.936C= (p.Ser312=)
c.843C= (p.Ser281=)
c.1095C= (p.Ser365=)
c.744C= (p.Ser248=)
1g.155294511G>TCA342753793PKLRc.936C>A (p.Ser312Arg)
c.843C>A (p.Ser281Arg)
c.1095C>A (p.Ser365Arg)
c.744C>A (p.Ser248Arg)
1g.155294512C>ACA342753795PKLRc.935G>T (p.Ser312Ile)
c.842G>T (p.Ser281Ile)
c.1094G>T (p.Ser365Ile)
c.743G>T (p.Ser248Ile)
1g.155294512C>GCA342753797PKLRc.935G>C (p.Ser312Thr)
c.842G>C (p.Ser281Thr)
c.1094G>C (p.Ser365Thr)
c.743G>C (p.Ser248Thr)
1g.155294512C>TCA342753799PKLRc.935G>A (p.Ser312Asn)
c.842G>A (p.Ser281Asn)
c.1094G>A (p.Ser365Asn)
c.743G>A (p.Ser248Asn)
 gnomAD v4
1g.155294513T>ACA342753805PKLRc.934A>T (p.Ser312Cys)
c.841A>T (p.Ser281Cys)
c.1093A>T (p.Ser365Cys)
c.742A>T (p.Ser248Cys)
1g.155294513T>CCA342753803PKLRc.934A>G (p.Ser312Gly)
c.841A>G (p.Ser281Gly)
c.1093A>G (p.Ser365Gly)
c.742A>G (p.Ser248Gly)
 dbSNP
1g.155294513T>GCA342753801PKLRc.934A>C (p.Ser312Arg)
c.841A>C (p.Ser281Arg)
c.1093A>C (p.Ser365Arg)
c.742A>C (p.Ser248Arg)
1g.155294513T=CA1200112197PKLRc.934A= (p.Ser312=)
c.841A= (p.Ser281=)
c.1093A= (p.Ser365=)
c.742A= (p.Ser248=)
1g.155294517_155294519delCA2648269277PKLRc.932_934del (p.Ile311del)
c.839_841del (p.Ile280del)
c.1091_1093del (p.Ile364del)
c.740_742del (p.Ile247del)
 gnomAD v4
1g.155294514G>ACA421245521PKLRc.933C>T (p.Ile311=)
c.840C>T (p.Ile280=)
c.1092C>T (p.Ile364=)
c.741C>T (p.Ile247=)
 gnomAD v4
1g.155294514G>CCA342753806PKLRc.933C>G (p.Ile311Met)
c.840C>G (p.Ile280Met)
c.1092C>G (p.Ile364Met)
c.741C>G (p.Ile247Met)
1g.155294514G=CA1200112198PKLRc.933C= (p.Ile311=)
c.840C= (p.Ile280=)
c.1092C= (p.Ile364=)
c.741C= (p.Ile247=)
1g.155294514G>TCA421245522PKLRc.933C>A (p.Ile311=)
c.840C>A (p.Ile280=)
c.1092C>A (p.Ile364=)
c.741C>A (p.Ile247=)
 dbSNP
1g.155294515A>CCA342753808PKLRc.932T>G (p.Ile311Ser)
c.839T>G (p.Ile280Ser)
c.1091T>G (p.Ile364Ser)
c.740T>G (p.Ile247Ser)
1g.155294515A>GCA342753810PKLRc.932T>C (p.Ile311Thr)
c.839T>C (p.Ile280Thr)
c.1091T>C (p.Ile364Thr)
c.740T>C (p.Ile247Thr)
 gnomAD v4
1g.155294515A>TCA342753812PKLRc.932T>A (p.Ile311Asn)
c.839T>A (p.Ile280Asn)
c.1091T>A (p.Ile364Asn)
c.740T>A (p.Ile247Asn)
1g.155294516T>ACA342753815PKLRc.931A>T (p.Ile311Phe)
c.838A>T (p.Ile280Phe)
c.1090A>T (p.Ile364Phe)
c.739A>T (p.Ile247Phe)
1g.155294516T>CCA342753817PKLRc.931A>G (p.Ile311Val)
c.838A>G (p.Ile280Val)
c.1090A>G (p.Ile364Val)
c.739A>G (p.Ile247Val)
1g.155294516T>GCA342753818PKLRc.931A>C (p.Ile311Leu)
c.838A>C (p.Ile280Leu)
c.1090A>C (p.Ile364Leu)
c.739A>C (p.Ile247Leu)
1g.155294517G>ACA421245523PKLRc.930C>T (p.Ile310=)
c.837C>T (p.Ile279=)
c.1089C>T (p.Ile363=)
c.738C>T (p.Ile246=)
 dbSNP gnomAD v3 gnomAD v4
1g.155294517G>CCA342753820PKLRc.930C>G (p.Ile310Met)
c.837C>G (p.Ile279Met)
c.1089C>G (p.Ile363Met)
c.738C>G (p.Ile246Met)
 dbSNP gnomAD v3 gnomAD v4
1g.155294517G=CA1200112199PKLRc.930C= (p.Ile310=)
c.837C= (p.Ile279=)
c.1089C= (p.Ile363=)
c.738C= (p.Ile246=)
1g.155294517G>TCA421245524PKLRc.930C>A (p.Ile310=)
c.837C>A (p.Ile279=)
c.1089C>A (p.Ile363=)
c.738C>A (p.Ile246=)
1g.155294518A>CCA342753822PKLRc.929T>G (p.Ile310Ser)
c.836T>G (p.Ile279Ser)
c.1088T>G (p.Ile363Ser)
c.737T>G (p.Ile246Ser)
1g.155294518A>GCA342753824PKLRc.929T>C (p.Ile310Thr)
c.836T>C (p.Ile279Thr)
c.1088T>C (p.Ile363Thr)
c.737T>C (p.Ile246Thr)
1g.155294518A>TCA342753826PKLRc.929T>A (p.Ile310Asn)
c.836T>A (p.Ile279Asn)
c.1088T>A (p.Ile363Asn)
c.737T>A (p.Ile246Asn)
1g.155294519T>ACA342753828PKLRc.928A>T (p.Ile310Phe)
c.835A>T (p.Ile279Phe)
c.1087A>T (p.Ile363Phe)
c.736A>T (p.Ile246Phe)
1g.155294519T>CCA342753830PKLRc.928A>G (p.Ile310Val)
c.835A>G (p.Ile279Val)
c.1087A>G (p.Ile363Val)
c.736A>G (p.Ile246Val)
1g.155294519T>GCA342753832PKLRc.928A>C (p.Ile310Leu)
c.835A>C (p.Ile279Leu)
c.1087A>C (p.Ile363Leu)
c.736A>C (p.Ile246Leu)
1g.155294520C>ACA342753837PKLRc.927G>T (p.Lys309Asn)
c.834G>T (p.Lys278Asn)
c.1086G>T (p.Lys362Asn)
c.735G>T (p.Lys245Asn)
1g.155294520C>GCA342753834PKLRc.927G>C (p.Lys309Asn)
c.834G>C (p.Lys278Asn)
c.1086G>C (p.Lys362Asn)
c.735G>C (p.Lys245Asn)
1g.155294520C>TCA421245525PKLRc.927G>A (p.Lys309=)
c.834G>A (p.Lys278=)
c.1086G>A (p.Lys362=)
c.735G>A (p.Lys245=)
 gnomAD v4
1g.155294521T>ACA342753841PKLRc.926A>T (p.Lys309Met)
c.833A>T (p.Lys278Met)
c.1085A>T (p.Lys362Met)
c.734A>T (p.Lys245Met)
1g.155294521T>CCA342753842PKLRc.926A>G (p.Lys309Arg)
c.833A>G (p.Lys278Arg)
c.1085A>G (p.Lys362Arg)
c.734A>G (p.Lys245Arg)
1g.155294521T>GCA342753844PKLRc.926A>C (p.Lys309Thr)
c.833A>C (p.Lys278Thr)
c.1085A>C (p.Lys362Thr)
c.734A>C (p.Lys245Thr)
1g.155294522T>ACA342753846PKLRc.925A>T (p.Lys309Ter)
c.832A>T (p.Lys278Ter)
c.1084A>T (p.Lys362Ter)
c.733A>T (p.Lys245Ter)
1g.155294522T>CCA342753848PKLRc.925A>G (p.Lys309Glu)
c.832A>G (p.Lys278Glu)
c.1084A>G (p.Lys362Glu)
c.733A>G (p.Lys245Glu)
1g.155294522T>GCA342753849PKLRc.925A>C (p.Lys309Gln)
c.832A>C (p.Lys278Gln)
c.1084A>C (p.Lys362Gln)
c.733A>C (p.Lys245Gln)
 gnomAD v4
1g.155294523G>ACA421245526PKLRc.924C>T (p.Ile308=)
c.831C>T (p.Ile277=)
c.1083C>T (p.Ile361=)
c.732C>T (p.Ile244=)
1g.155294523G>CCA342753852PKLRc.924C>G (p.Ile308Met)
c.831C>G (p.Ile277Met)
c.1083C>G (p.Ile361Met)
c.732C>G (p.Ile244Met)
1g.155294523G>TCA421245527PKLRc.924C>A (p.Ile308=)
c.831C>A (p.Ile277=)
c.1083C>A (p.Ile361=)
c.732C>A (p.Ile244=)
1g.155294524A>CCA342753854PKLRc.923T>G (p.Ile308Ser)
c.830T>G (p.Ile277Ser)
c.1082T>G (p.Ile361Ser)
c.731T>G (p.Ile244Ser)
1g.155294524A>GCA342753856PKLRc.923T>C (p.Ile308Thr)
c.830T>C (p.Ile277Thr)
c.1082T>C (p.Ile361Thr)
c.731T>C (p.Ile244Thr)
1g.155294524A>TCA342753858PKLRc.923T>A (p.Ile308Asn)
c.830T>A (p.Ile277Asn)
c.1082T>A (p.Ile361Asn)
c.731T>A (p.Ile244Asn)
 gnomAD v4
1g.155294525T>ACA342753860PKLRc.922A>T (p.Ile308Phe)
c.829A>T (p.Ile277Phe)
c.1081A>T (p.Ile361Phe)
c.730A>T (p.Ile244Phe)
1g.155294525T>CCA342753861PKLRc.922A>G (p.Ile308Val)
c.829A>G (p.Ile277Val)
c.1081A>G (p.Ile361Val)
c.730A>G (p.Ile244Val)
1g.155294525T>GCA342753864PKLRc.922A>C (p.Ile308Leu)
c.829A>C (p.Ile277Leu)
c.1081A>C (p.Ile361Leu)
c.730A>C (p.Ile244Leu)
1g.155294526G>ACA421245528PKLRc.921C>T (p.Gly307=)
c.828C>T (p.Gly276=)
c.1080C>T (p.Gly360=)
c.729C>T (p.Gly243=)
 gnomAD v4
1g.155294526G>CCA421245529PKLRc.921C>G (p.Gly307=)
c.828C>G (p.Gly276=)
c.1080C>G (p.Gly360=)
c.729C>G (p.Gly243=)
1g.155294526G>TCA421245530PKLRc.921C>A (p.Gly307=)
c.828C>A (p.Gly276=)
c.1080C>A (p.Gly360=)
c.729C>A (p.Gly243=)
1g.155294527C>ACA1144175PKLRc.920G>T (p.Gly307Val)
c.827G>T (p.Gly276Val)
c.1079G>T (p.Gly360Val)
c.728G>T (p.Gly243Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294527C=CA1200112200PKLRc.920G= (p.Gly307=)
c.827G= (p.Gly276=)
c.1079G= (p.Gly360=)
c.728G= (p.Gly243=)
1g.155294527C>GCA342753870PKLRc.920G>C (p.Gly307Ala)
c.827G>C (p.Gly276Ala)
c.1079G>C (p.Gly360Ala)
c.728G>C (p.Gly243Ala)
1g.155294527C>TCA342753866PKLRc.920G>A (p.Gly307Asp)
c.827G>A (p.Gly276Asp)
c.1079G>A (p.Gly360Asp)
c.728G>A (p.Gly243Asp)
1g.155294528C>ACA342753873PKLRc.919G>T (p.Gly307Cys)
c.826G>T (p.Gly276Cys)
c.1078G>T (p.Gly360Cys)
c.727G>T (p.Gly243Cys)
1g.155294528C=CA1143965198PKLRc.919G= (p.Gly307=)
c.826G= (p.Gly276=)
c.1078G= (p.Gly360=)
c.727G= (p.Gly243=)
1g.155294528C>GCA1144177PKLRc.919G>C (p.Gly307Arg)
c.826G>C (p.Gly276Arg)
c.1078G>C (p.Gly360Arg)
c.727G>C (p.Gly243Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294528C>TCA1144176PKLRc.919G>A (p.Gly307Ser)
c.826G>A (p.Gly276Ser)
c.1078G>A (p.Gly360Ser)
c.727G>A (p.Gly243Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294529G>ACA1144179PKLRc.918C>T (p.His306=)
c.825C>T (p.His275=)
c.1077C>T (p.His359=)
c.726C>T (p.His242=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.155294529G>CCA342753878PKLRc.918C>G (p.His306Gln)
c.825C>G (p.His275Gln)
c.1077C>G (p.His359Gln)
c.726C>G (p.His242Gln)
 gnomAD v4
1g.155294529G=CA1141813668PKLRc.918C= (p.His306=)
c.825C= (p.His275=)
c.1077C= (p.His359=)
c.726C= (p.His242=)
1g.155294529G>TCA1144178PKLRc.918C>A (p.His306Gln)
c.825C>A (p.His275Gln)
c.1077C>A (p.His359Gln)
c.726C>A (p.His242Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294530T>ACA342753882PKLRc.917A>T (p.His306Leu)
c.824A>T (p.His275Leu)
c.1076A>T (p.His359Leu)
c.725A>T (p.His242Leu)
1g.155294530T>CCA342753883PKLRc.917A>G (p.His306Arg)
c.824A>G (p.His275Arg)
c.1076A>G (p.His359Arg)
c.725A>G (p.His242Arg)
 dbSNP
1g.155294530T>GCA342753885PKLRc.917A>C (p.His306Pro)
c.824A>C (p.His275Pro)
c.1076A>C (p.His359Pro)
c.725A>C (p.His242Pro)
1g.155294530T=CA1200112201PKLRc.917A= (p.His306=)
c.824A= (p.His275=)
c.1076A= (p.His359=)
c.725A= (p.His242=)
1g.155294531G>ACA342753888PKLRc.916C>T (p.His306Tyr)
c.823C>T (p.His275Tyr)
c.1075C>T (p.His359Tyr)
c.724C>T (p.His242Tyr)
1g.155294531G>CCA342753889PKLRc.916C>G (p.His306Asp)
c.823C>G (p.His275Asp)
c.1075C>G (p.His359Asp)
c.724C>G (p.His242Asp)
1g.155294531G>TCA342753891PKLRc.916C>A (p.His306Asn)
c.823C>A (p.His275Asn)
c.1075C>A (p.His359Asn)
c.724C>A (p.His242Asn)
1g.155294532_155294539delCA2586967535PKLRc.909_916del (p.Glu304ArgfsTer9)
c.816_823del (p.Glu273ArgfsTer9)
c.1068_1075del (p.Glu357ArgfsTer9)
c.717_724del (p.Glu240ArgfsTer9)
1g.155294532T>ACA421245531PKLRc.915A>T (p.Gly305=)
c.822A>T (p.Gly274=)
c.1074A>T (p.Gly358=)
c.723A>T (p.Gly241=)
 gnomAD v4
1g.155294532T>CCA421245532PKLRc.915A>G (p.Gly305=)
c.822A>G (p.Gly274=)
c.1074A>G (p.Gly358=)
c.723A>G (p.Gly241=)
1g.155294532T>GCA421245533PKLRc.915A>C (p.Gly305=)
c.822A>C (p.Gly274=)
c.1074A>C (p.Gly358=)
c.723A>C (p.Gly241=)
1g.155294533C>ACA342753894PKLRc.914G>T (p.Gly305Val)
c.821G>T (p.Gly274Val)
c.1073G>T (p.Gly358Val)
c.722G>T (p.Gly241Val)
1g.155294533C>GCA342753895PKLRc.914G>C (p.Gly305Ala)
c.821G>C (p.Gly274Ala)
c.1073G>C (p.Gly358Ala)
c.722G>C (p.Gly241Ala)
 dbSNP
1g.155294533C>TCA342753897PKLRc.914G>A (p.Gly305Glu)
c.821G>A (p.Gly274Glu)
c.1073G>A (p.Gly358Glu)
c.722G>A (p.Gly241Glu)
 ClinVar dbSNP COSMIC
1g.155294534_155294558delCA2648269318PKLRc.890_914del (p.Val297AspfsTer16)
c.797_821del (p.Val266AspfsTer16)
c.1049_1073del (p.Val350AspfsTer16)
c.698_722del (p.Val233AspfsTer16)
 gnomAD v4
1g.155294534C>ACA342753900PKLRc.913G>T (p.Gly305Ter)
c.820G>T (p.Gly274Ter)
c.1072G>T (p.Gly358Ter)
c.721G>T (p.Gly241Ter)
1g.155294534C>GCA342753904PKLRc.913G>C (p.Gly305Arg)
c.820G>C (p.Gly274Arg)
c.1072G>C (p.Gly358Arg)
c.721G>C (p.Gly241Arg)
1g.155294534C>TCA342753902PKLRc.913G>A (p.Gly305Arg)
c.820G>A (p.Gly274Arg)
c.1072G>A (p.Gly358Arg)
c.721G>A (p.Gly241Arg)
 dbSNP
1g.155294535T>ACA342753906PKLRc.912A>T (p.Glu304Asp)
c.819A>T (p.Glu273Asp)
c.1071A>T (p.Glu357Asp)
c.720A>T (p.Glu240Asp)
1g.155294535T>CCA421245534PKLRc.912A>G (p.Glu304=)
c.819A>G (p.Glu273=)
c.1071A>G (p.Glu357=)
c.720A>G (p.Glu240=)
1g.155294535T>GCA342753908PKLRc.912A>C (p.Glu304Asp)
c.819A>C (p.Glu273Asp)
c.1071A>C (p.Glu357Asp)
c.720A>C (p.Glu240Asp)
 COSMIC
1g.155294536T>ACA342753911PKLRc.911A>T (p.Glu304Val)
c.818A>T (p.Glu273Val)
c.1070A>T (p.Glu357Val)
c.719A>T (p.Glu240Val)
1g.155294536T>CCA342753913PKLRc.911A>G (p.Glu304Gly)
c.818A>G (p.Glu273Gly)
c.1070A>G (p.Glu357Gly)
c.719A>G (p.Glu240Gly)
1g.155294536T>GCA342753914PKLRc.911A>C (p.Glu304Ala)
c.818A>C (p.Glu273Ala)
c.1070A>C (p.Glu357Ala)
c.719A>C (p.Glu240Ala)
1g.155294537C>ACA342753917PKLRc.910G>T (p.Glu304Ter)
c.817G>T (p.Glu273Ter)
c.1069G>T (p.Glu357Ter)
c.718G>T (p.Glu240Ter)
1g.155294537C>GCA342753919PKLRc.910G>C (p.Glu304Gln)
c.817G>C (p.Glu273Gln)
c.1069G>C (p.Glu357Gln)
c.718G>C (p.Glu240Gln)
1g.155294537C>TCA342753920PKLRc.910G>A (p.Glu304Lys)
c.817G>A (p.Glu273Lys)
c.1069G>A (p.Glu357Lys)
c.718G>A (p.Glu240Lys)
1g.155294538C>ACA421245538PKLRc.909G>T (p.Pro303=)
c.816G>T (p.Pro272=)
c.1068G>T (p.Pro356=)
c.717G>T (p.Pro239=)
1g.155294538C=CA1143443726PKLRc.909G= (p.Pro303=)
c.816G= (p.Pro272=)
c.1068G= (p.Pro356=)
c.717G= (p.Pro239=)
1g.155294538C>GCA1144180PKLRc.909G>C (p.Pro303=)
c.816G>C (p.Pro272=)
c.1068G>C (p.Pro356=)
c.717G>C (p.Pro239=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294538C>TCA421245539PKLRc.909G>A (p.Pro303=)
c.816G>A (p.Pro272=)
c.1068G>A (p.Pro356=)
c.717G>A (p.Pro239=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155294539G>ACA1144181PKLRc.908C>T (p.Pro303Leu)
c.815C>T (p.Pro272Leu)
c.1067C>T (p.Pro356Leu)
c.716C>T (p.Pro239Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.155294539G>CCA342753928PKLRc.908C>G (p.Pro303Arg)
c.815C>G (p.Pro272Arg)
c.1067C>G (p.Pro356Arg)
c.716C>G (p.Pro239Arg)
1g.155294539G=CA1148396536PKLRc.908C= (p.Pro303=)
c.815C= (p.Pro272=)
c.1067C= (p.Pro356=)
c.716C= (p.Pro239=)
1g.155294539G>TCA342753925PKLRc.908C>A (p.Pro303Gln)
c.815C>A (p.Pro272Gln)
c.1067C>A (p.Pro356Gln)
c.716C>A (p.Pro239Gln)
 dbSNP
1g.155294539_155294540delCA2586967536PKLRc.907_908del (p.Pro303GlyfsTer12)
c.814_815del (p.Pro272GlyfsTer12)
c.1066_1067del (p.Pro356GlyfsTer12)
c.715_716del (p.Pro239GlyfsTer12)
1g.155294540G>ACA342753930PKLRc.907C>T (p.Pro303Ser)
c.814C>T (p.Pro272Ser)
c.1066C>T (p.Pro356Ser)
c.715C>T (p.Pro239Ser)
 dbSNP
1g.155294540G>CCA1144182PKLRc.907C>G (p.Pro303Ala)
c.814C>G (p.Pro272Ala)
c.1066C>G (p.Pro356Ala)
c.715C>G (p.Pro239Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294540G=CA1143518247PKLRc.907C= (p.Pro303=)
c.814C= (p.Pro272=)
c.1066C= (p.Pro356=)
c.715C= (p.Pro239=)
1g.155294540G>TCA342753933PKLRc.907C>A (p.Pro303Thr)
c.814C>A (p.Pro272Thr)
c.1066C>A (p.Pro356Thr)
c.715C>A (p.Pro239Thr)
1g.155294541A=CA1200112202PKLRc.906T= (p.Gly302=)
c.813T= (p.Gly271=)
c.1065T= (p.Gly355=)
c.714T= (p.Gly238=)
1g.155294541A>CCA421245542PKLRc.906T>G (p.Gly302=)
c.813T>G (p.Gly271=)
c.1065T>G (p.Gly355=)
c.714T>G (p.Gly238=)
1g.155294541A>GCA1144183PKLRc.906T>C (p.Gly302=)
c.813T>C (p.Gly271=)
c.1065T>C (p.Gly355=)
c.714T>C (p.Gly238=)
 dbSNP ExAC gnomAD v2
1g.155294541A>TCA421245543PKLRc.906T>A (p.Gly302=)
c.813T>A (p.Gly271=)
c.1065T>A (p.Gly355=)
c.714T>A (p.Gly238=)
1g.155294542C>ACA342753937PKLRc.905G>T (p.Gly302Val)
c.812G>T (p.Gly271Val)
c.1064G>T (p.Gly355Val)
c.713G>T (p.Gly238Val)
1g.155294542C=CA1200112203PKLRc.905G= (p.Gly302=)
c.812G= (p.Gly271=)
c.1064G= (p.Gly355=)
c.713G= (p.Gly238=)
1g.155294542C>GCA342753939PKLRc.905G>C (p.Gly302Ala)
c.812G>C (p.Gly271Ala)
c.1064G>C (p.Gly355Ala)
c.713G>C (p.Gly238Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.155294542C>TCA342753940PKLRc.905G>A (p.Gly302Asp)
c.812G>A (p.Gly271Asp)
c.1064G>A (p.Gly355Asp)
c.713G>A (p.Gly238Asp)
 gnomAD v4
1g.155294543C>ACA342753943PKLRc.904G>T (p.Gly302Cys)
c.811G>T (p.Gly271Cys)
c.1063G>T (p.Gly355Cys)
c.712G>T (p.Gly238Cys)
1g.155294543C>GCA342753945PKLRc.904G>C (p.Gly302Arg)
c.811G>C (p.Gly271Arg)
c.1063G>C (p.Gly355Arg)
c.712G>C (p.Gly238Arg)
1g.155294543C>TCA342753946PKLRc.904G>A (p.Gly302Ser)
c.811G>A (p.Gly271Ser)
c.1063G>A (p.Gly355Ser)
c.712G>A (p.Gly238Ser)
1g.155294544C>ACA421245545PKLRc.903G>T (p.Leu301=)
c.810G>T (p.Leu270=)
c.1062G>T (p.Leu354=)
c.711G>T (p.Leu237=)
1g.155294544C=CA1200112204PKLRc.903G= (p.Leu301=)
c.810G= (p.Leu270=)
c.1062G= (p.Leu354=)
c.711G= (p.Leu237=)
1g.155294544C>GCA421245546PKLRc.903G>C (p.Leu301=)
c.810G>C (p.Leu270=)
c.1062G>C (p.Leu354=)
c.711G>C (p.Leu237=)
 gnomAD v4
1g.155294544C>TCA1144184PKLRc.903G>A (p.Leu301=)
c.810G>A (p.Leu270=)
c.1062G>A (p.Leu354=)
c.711G>A (p.Leu237=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294545A>CCA342753953PKLRc.902T>G (p.Leu301Arg)
c.809T>G (p.Leu270Arg)
c.1061T>G (p.Leu354Arg)
c.710T>G (p.Leu237Arg)
1g.155294545A>GCA342753955PKLRc.902T>C (p.Leu301Pro)
c.809T>C (p.Leu270Pro)
c.1061T>C (p.Leu354Pro)
c.710T>C (p.Leu237Pro)
 COSMIC
1g.155294545A>TCA342753951PKLRc.902T>A (p.Leu301Gln)
c.809T>A (p.Leu270Gln)
c.1061T>A (p.Leu354Gln)
c.710T>A (p.Leu237Gln)
1g.155294546G>ACA421245549PKLRc.901C>T (p.Leu301=)
c.808C>T (p.Leu270=)
c.1060C>T (p.Leu354=)
c.709C>T (p.Leu237=)
1g.155294546G>CCA342753957PKLRc.901C>G (p.Leu301Val)
c.808C>G (p.Leu270Val)
c.1060C>G (p.Leu354Val)
c.709C>G (p.Leu237Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155294546G=CA1200112205PKLRc.901C= (p.Leu301=)
c.808C= (p.Leu270=)
c.1060C= (p.Leu354=)
c.709C= (p.Leu237=)
1g.155294546G>TCA342753959PKLRc.901C>A (p.Leu301Met)
c.808C>A (p.Leu270Met)
c.1060C>A (p.Leu354Met)
c.709C>A (p.Leu237Met)
1g.155294547A>CCA421245551PKLRc.900T>G (p.Ala300=)
c.807T>G (p.Ala269=)
c.1059T>G (p.Ala353=)
c.708T>G (p.Ala236=)
1g.155294547A>GCA421245552PKLRc.900T>C (p.Ala300=)
c.807T>C (p.Ala269=)
c.1059T>C (p.Ala353=)
c.708T>C (p.Ala236=)
1g.155294547A>TCA421245553PKLRc.900T>A (p.Ala300=)
c.807T>A (p.Ala269=)
c.1059T>A (p.Ala353=)
c.708T>A (p.Ala236=)
1g.155294548G>ACA342753961PKLRc.899C>T (p.Ala300Val)
c.806C>T (p.Ala269Val)
c.1058C>T (p.Ala353Val)
c.707C>T (p.Ala236Val)
1g.155294548G>CCA342753963PKLRc.899C>G (p.Ala300Gly)
c.806C>G (p.Ala269Gly)
c.1058C>G (p.Ala353Gly)
c.707C>G (p.Ala236Gly)
1g.155294548G>TCA342753965PKLRc.899C>A (p.Ala300Asp)
c.806C>A (p.Ala269Asp)
c.1058C>A (p.Ala353Asp)
c.707C>A (p.Ala236Asp)
1g.155294549C>ACA342753971PKLRc.898G>T (p.Ala300Ser)
c.805G>T (p.Ala269Ser)
c.1057G>T (p.Ala353Ser)
c.706G>T (p.Ala236Ser)
1g.155294549C>GCA342753967PKLRc.898G>C (p.Ala300Pro)
c.805G>C (p.Ala269Pro)
c.1057G>C (p.Ala353Pro)
c.706G>C (p.Ala236Pro)
1g.155294549C>TCA342753969PKLRc.898G>A (p.Ala300Thr)
c.805G>A (p.Ala269Thr)
c.1057G>A (p.Ala353Thr)
c.706G>A (p.Ala236Thr)
1g.155294550A>CCA421245556PKLRc.897T>G (p.Ala299=)
c.804T>G (p.Ala268=)
c.1056T>G (p.Ala352=)
c.705T>G (p.Ala235=)
1g.155294550A>GCA421245557PKLRc.897T>C (p.Ala299=)
c.804T>C (p.Ala268=)
c.1056T>C (p.Ala352=)
c.705T>C (p.Ala235=)
1g.155294550A>TCA421245554PKLRc.897T>A (p.Ala299=)
c.804T>A (p.Ala268=)
c.1056T>A (p.Ala352=)
c.705T>A (p.Ala235=)
1g.155294551G>ACA342753973PKLRc.896C>T (p.Ala299Val)
c.803C>T (p.Ala268Val)
c.1055C>T (p.Ala352Val)
c.704C>T (p.Ala235Val)
 gnomAD v4
1g.155294551G>CCA342753975PKLRc.896C>G (p.Ala299Gly)
c.803C>G (p.Ala268Gly)
c.1055C>G (p.Ala352Gly)
c.704C>G (p.Ala235Gly)
1g.155294551G=CA1200112206PKLRc.896C= (p.Ala299=)
c.803C= (p.Ala268=)
c.1055C= (p.Ala352=)
c.704C= (p.Ala235=)
1g.155294551G>TCA1144185PKLRc.896C>A (p.Ala299Asp)
c.803C>A (p.Ala268Asp)
c.1055C>A (p.Ala352Asp)
c.704C>A (p.Ala235Asp)
 dbSNP ExAC gnomAD v2
1g.155294552C>ACA342753979PKLRc.895G>T (p.Ala299Ser)
c.802G>T (p.Ala268Ser)
c.1054G>T (p.Ala352Ser)
c.703G>T (p.Ala235Ser)
1g.155294552C>GCA342753981PKLRc.895G>C (p.Ala299Pro)
c.802G>C (p.Ala268Pro)
c.1054G>C (p.Ala352Pro)
c.703G>C (p.Ala235Pro)
1g.155294552C>TCA342753982PKLRc.895G>A (p.Ala299Thr)
c.802G>A (p.Ala268Thr)
c.1054G>A (p.Ala352Thr)
c.703G>A (p.Ala235Thr)
1g.155294553C>ACA342753985PKLRc.894G>T (p.Arg298Ser)
c.801G>T (p.Arg267Ser)
c.1053G>T (p.Arg351Ser)
c.702G>T (p.Arg234Ser)
1g.155294553C>GCA342753987PKLRc.894G>C (p.Arg298Ser)
c.801G>C (p.Arg267Ser)
c.1053G>C (p.Arg351Ser)
c.702G>C (p.Arg234Ser)
1g.155294553C>TCA421245560PKLRc.894G>A (p.Arg298=)
c.801G>A (p.Arg267=)
c.1053G>A (p.Arg351=)
c.702G>A (p.Arg234=)
 COSMIC
1g.155294554C>ACA342753989PKLRc.893G>T (p.Arg298Met)
c.800G>T (p.Arg267Met)
c.1052G>T (p.Arg351Met)
c.701G>T (p.Arg234Met)
1g.155294554C>GCA342753992PKLRc.893G>C (p.Arg298Thr)
c.800G>C (p.Arg267Thr)
c.1052G>C (p.Arg351Thr)
c.701G>C (p.Arg234Thr)
1g.155294554C>TCA342753990PKLRc.893G>A (p.Arg298Lys)
c.800G>A (p.Arg267Lys)
c.1052G>A (p.Arg351Lys)
c.701G>A (p.Arg234Lys)
1g.155294555T>ACA342753993PKLRc.892A>T (p.Arg298Trp)
c.799A>T (p.Arg267Trp)
c.1051A>T (p.Arg351Trp)
c.700A>T (p.Arg234Trp)
1g.155294555T>CCA342753996PKLRc.892A>G (p.Arg298Gly)
c.799A>G (p.Arg267Gly)
c.1051A>G (p.Arg351Gly)
c.700A>G (p.Arg234Gly)
1g.155294555T>GCA421245562PKLRc.892A>C (p.Arg298=)
c.799A>C (p.Arg267=)
c.1051A>C (p.Arg351=)
c.700A>C (p.Arg234=)
1g.155294556G>ACA421245563PKLRc.891C>T (p.Val297=)
c.798C>T (p.Val266=)
c.1050C>T (p.Val350=)
c.699C>T (p.Val233=)
1g.155294556G>CCA421245565PKLRc.891C>G (p.Val297=)
c.798C>G (p.Val266=)
c.1050C>G (p.Val350=)
c.699C>G (p.Val233=)
 dbSNP gnomAD v2 gnomAD v4
1g.155294556G=CA1200112207PKLRc.891C= (p.Val297=)
c.798C= (p.Val266=)
c.1050C= (p.Val350=)
c.699C= (p.Val233=)
1g.155294556G>TCA421245564PKLRc.891C>A (p.Val297=)
c.798C>A (p.Val266=)
c.1050C>A (p.Val350=)
c.699C>A (p.Val233=)
 COSMIC
1g.155294557A>CCA342753998PKLRc.890T>G (p.Val297Gly)
c.797T>G (p.Val266Gly)
c.1049T>G (p.Val350Gly)
c.698T>G (p.Val233Gly)
1g.155294557A>GCA342753999PKLRc.890T>C (p.Val297Ala)
c.797T>C (p.Val266Ala)
c.1049T>C (p.Val350Ala)
c.698T>C (p.Val233Ala)
1g.155294557A>TCA342754000PKLRc.890T>A (p.Val297Asp)
c.797T>A (p.Val266Asp)
c.1049T>A (p.Val350Asp)
c.698T>A (p.Val233Asp)
1g.155294558C>ACA342754003PKLRc.889G>T (p.Val297Phe)
c.796G>T (p.Val266Phe)
c.1048G>T (p.Val350Phe)
c.697G>T (p.Val233Phe)
 COSMIC
1g.155294558C=CA1142240281PKLRc.889G= (p.Val297=)
c.796G= (p.Val266=)
c.1048G= (p.Val350=)
c.697G= (p.Val233=)
1g.155294558C>GCA1144187PKLRc.889G>C (p.Val297Leu)
c.796G>C (p.Val266Leu)
c.1048G>C (p.Val350Leu)
c.697G>C (p.Val233Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294558C>TCA1144186PKLRc.889G>A (p.Val297Ile)
c.796G>A (p.Val266Ile)
c.1048G>A (p.Val350Ile)
c.697G>A (p.Val233Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.155294559G>ACA421245566PKLRc.888C>T (p.Ala296=)
c.795C>T (p.Ala265=)
c.1047C>T (p.Ala349=)
c.696C>T (p.Ala232=)
 gnomAD v4
1g.155294559G>CCA421245567PKLRc.888C>G (p.Ala296=)
c.795C>G (p.Ala265=)
c.1047C>G (p.Ala349=)
c.696C>G (p.Ala232=)
1g.155294559G>TCA421245568PKLRc.888C>A (p.Ala296=)
c.795C>A (p.Ala265=)
c.1047C>A (p.Ala349=)
c.696C>A (p.Ala232=)
 gnomAD v4 COSMIC
1g.155294560G>ACA342754009PKLRc.887C>T (p.Ala296Val)
c.794C>T (p.Ala265Val)
c.1046C>T (p.Ala349Val)
c.695C>T (p.Ala232Val)
1g.155294560G>CCA342754010PKLRc.887C>G (p.Ala296Gly)
c.794C>G (p.Ala265Gly)
c.1046C>G (p.Ala349Gly)
c.695C>G (p.Ala232Gly)
1g.155294560G=CA1200112208PKLRc.887C= (p.Ala296=)
c.794C= (p.Ala265=)
c.1046C= (p.Ala349=)
c.695C= (p.Ala232=)
1g.155294560G>TCA342754013PKLRc.887C>A (p.Ala296Asp)
c.794C>A (p.Ala265Asp)
c.1046C>A (p.Ala349Asp)
c.695C>A (p.Ala232Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.155294561C>ACA342754015PKLRc.886G>T (p.Ala296Ser)
c.793G>T (p.Ala265Ser)
c.1045G>T (p.Ala349Ser)
c.694G>T (p.Ala232Ser)
1g.155294561C>GCA342754017PKLRc.886G>C (p.Ala296Pro)
c.793G>C (p.Ala265Pro)
c.1045G>C (p.Ala349Pro)
c.694G>C (p.Ala232Pro)
1g.155294561C>TCA342754019PKLRc.886G>A (p.Ala296Thr)
c.793G>A (p.Ala265Thr)
c.1045G>A (p.Ala349Thr)
c.694G>A (p.Ala232Thr)
1g.155294562A>CCA421245572PKLRc.885T>G (p.Ala295=)
c.792T>G (p.Ala264=)
c.1044T>G (p.Ala348=)
c.693T>G (p.Ala231=)
1g.155294562A>GCA421245573PKLRc.885T>C (p.Ala295=)
c.792T>C (p.Ala264=)
c.1044T>C (p.Ala348=)
c.693T>C (p.Ala231=)
1g.155294562A>TCA421245574PKLRc.885T>A (p.Ala295=)
c.792T>A (p.Ala264=)
c.1044T>A (p.Ala348=)
c.693T>A (p.Ala231=)
 gnomAD v4
1g.155294563G>ACA1144188PKLRc.884C>T (p.Ala295Val)
c.791C>T (p.Ala264Val)
c.1043C>T (p.Ala348Val)
c.692C>T (p.Ala231Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294563G>CCA342754021PKLRc.884C>G (p.Ala295Gly)
c.791C>G (p.Ala264Gly)
c.1043C>G (p.Ala348Gly)
c.692C>G (p.Ala231Gly)
1g.155294563G=CA1200112209PKLRc.884C= (p.Ala295=)
c.791C= (p.Ala264=)
c.1043C= (p.Ala348=)
c.692C= (p.Ala231=)
1g.155294563G>TCA342754023PKLRc.884C>A (p.Ala295Asp)
c.791C>A (p.Ala264Asp)
c.1043C>A (p.Ala348Asp)
c.692C>A (p.Ala231Asp)
1g.155294564C>ACA342754026PKLRc.883G>T (p.Ala295Ser)
c.790G>T (p.Ala264Ser)
c.1042G>T (p.Ala348Ser)
c.691G>T (p.Ala231Ser)
1g.155294564C=CA1200112210PKLRc.883G= (p.Ala295=)
c.790G= (p.Ala264=)
c.1042G= (p.Ala348=)
c.691G= (p.Ala231=)
1g.155294564C>GCA342754029PKLRc.883G>C (p.Ala295Pro)
c.790G>C (p.Ala264Pro)
c.1042G>C (p.Ala348Pro)
c.691G>C (p.Ala231Pro)
1g.155294564C>TCA1144189PKLRc.883G>A (p.Ala295Thr)
c.790G>A (p.Ala264Thr)
c.1042G>A (p.Ala348Thr)
c.691G>A (p.Ala231Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294565C>ACA421245576PKLRc.882G>T (p.Val294=)
c.789G>T (p.Val263=)
c.1041G>T (p.Val347=)
c.690G>T (p.Val230=)
1g.155294565C>GCA421245577PKLRc.882G>C (p.Val294=)
c.789G>C (p.Val263=)
c.1041G>C (p.Val347=)
c.690G>C (p.Val230=)
1g.155294565C>TCA421245579PKLRc.882G>A (p.Val294=)
c.789G>A (p.Val263=)
c.1041G>A (p.Val347=)
c.690G>A (p.Val230=)
1g.155294566A>CCA342754032PKLRc.881T>G (p.Val294Gly)
c.788T>G (p.Val263Gly)
c.1040T>G (p.Val347Gly)
c.689T>G (p.Val230Gly)
1g.155294566A>GCA342754034PKLRc.881T>C (p.Val294Ala)
c.788T>C (p.Val263Ala)
c.1040T>C (p.Val347Ala)
c.689T>C (p.Val230Ala)
1g.155294566A>TCA342754036PKLRc.881T>A (p.Val294Glu)
c.788T>A (p.Val263Glu)
c.1040T>A (p.Val347Glu)
c.689T>A (p.Val230Glu)
1g.155294567C>ACA1144190PKLRc.880G>T (p.Val294Leu)
c.787G>T (p.Val263Leu)
c.1039G>T (p.Val347Leu)
c.688G>T (p.Val230Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294567C=CA1200112211PKLRc.880G= (p.Val294=)
c.787G= (p.Val263=)
c.1039G= (p.Val347=)
c.688G= (p.Val230=)
1g.155294567C>GCA30903252PKLRc.880G>C (p.Val294Leu)
c.787G>C (p.Val263Leu)
c.1039G>C (p.Val347Leu)
c.688G>C (p.Val230Leu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.155294567C>TCA342754040PKLRc.880G>A (p.Val294Met)
c.787G>A (p.Val263Met)
c.1039G>A (p.Val347Met)
c.688G>A (p.Val230Met)
 gnomAD v4
1g.155294568G>ACA421245581PKLRc.879C>T (p.Asp293=)
c.786C>T (p.Asp262=)
c.1038C>T (p.Asp346=)
c.687C>T (p.Asp229=)
 gnomAD v4
1g.155294568G>CCA342754042PKLRc.879C>G (p.Asp293Glu)
c.786C>G (p.Asp262Glu)
c.1038C>G (p.Asp346Glu)
c.687C>G (p.Asp229Glu)
 ClinVar
1g.155294568G>TCA342754044PKLRc.879C>A (p.Asp293Glu)
c.786C>A (p.Asp262Glu)
c.1038C>A (p.Asp346Glu)
c.687C>A (p.Asp229Glu)
1g.155294569T>ACA342754050PKLRc.878A>T (p.Asp293Val)
c.785A>T (p.Asp262Val)
c.1037A>T (p.Asp346Val)
c.686A>T (p.Asp229Val)
1g.155294569T>CCA342754049PKLRc.878A>G (p.Asp293Gly)
c.785A>G (p.Asp262Gly)
c.1037A>G (p.Asp346Gly)
c.686A>G (p.Asp229Gly)
1g.155294569T>GCA342754046PKLRc.878A>C (p.Asp293Ala)
c.785A>C (p.Asp262Ala)
c.1037A>C (p.Asp346Ala)
c.686A>C (p.Asp229Ala)
1g.155294570C>ACA342754053PKLRc.877G>T (p.Asp293Tyr)
c.784G>T (p.Asp262Tyr)
c.1036G>T (p.Asp346Tyr)
c.685G>T (p.Asp229Tyr)
 gnomAD v4
1g.155294570C=CA1200112212PKLRc.877G= (p.Asp293=)
c.784G= (p.Asp262=)
c.1036G= (p.Asp346=)
c.685G= (p.Asp229=)
1g.155294570C>GCA342754055PKLRc.877G>C (p.Asp293His)
c.784G>C (p.Asp262His)
c.1036G>C (p.Asp346His)
c.685G>C (p.Asp229His)
 dbSNP gnomAD v3 gnomAD v4
1g.155294570C>TCA342754056PKLRc.877G>A (p.Asp293Asn)
c.784G>A (p.Asp262Asn)
c.1036G>A (p.Asp346Asn)
c.685G>A (p.Asp229Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.155294571G>ACA421245585PKLRc.876C>T (p.Ser292=)
c.783C>T (p.Ser261=)
c.1035C>T (p.Ser345=)
c.684C>T (p.Ser228=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.155294571G>CCA342754059PKLRc.876C>G (p.Ser292Arg)
c.783C>G (p.Ser261Arg)
c.1035C>G (p.Ser345Arg)
c.684C>G (p.Ser228Arg)
1g.155294571G=CA1200112213PKLRc.876C= (p.Ser292=)
c.783C= (p.Ser261=)
c.1035C= (p.Ser345=)
c.684C= (p.Ser228=)
1g.155294571G>TCA342754061PKLRc.876C>A (p.Ser292Arg)
c.783C>A (p.Ser261Arg)
c.1035C>A (p.Ser345Arg)
c.684C>A (p.Ser228Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155294572C>ACA342754067PKLRc.875G>T (p.Ser292Ile)
c.782G>T (p.Ser261Ile)
c.1034G>T (p.Ser345Ile)
c.683G>T (p.Ser228Ile)
1g.155294572C>GCA342754065PKLRc.875G>C (p.Ser292Thr)
c.782G>C (p.Ser261Thr)
c.1034G>C (p.Ser345Thr)
c.683G>C (p.Ser228Thr)
1g.155294572C>TCA342754064PKLRc.875G>A (p.Ser292Asn)
c.782G>A (p.Ser261Asn)
c.1034G>A (p.Ser345Asn)
c.683G>A (p.Ser228Asn)
 dbSNP
1g.155294573T>ACA30903254PKLRc.874A>T (p.Ser292Cys)
c.781A>T (p.Ser261Cys)
c.1033A>T (p.Ser345Cys)
c.682A>T (p.Ser228Cys)
 dbSNP
1g.155294573T>CCA342754071PKLRc.874A>G (p.Ser292Gly)
c.781A>G (p.Ser261Gly)
c.1033A>G (p.Ser345Gly)
c.682A>G (p.Ser228Gly)
 dbSNP gnomAD v4
1g.155294573T>GCA342754073PKLRc.874A>C (p.Ser292Arg)
c.781A>C (p.Ser261Arg)
c.1033A>C (p.Ser345Arg)
c.682A>C (p.Ser228Arg)
1g.155294573T=CA1149127913PKLRc.874A= (p.Ser292=)
c.781A= (p.Ser261=)
c.1033A= (p.Ser345=)
c.682A= (p.Ser228=)
1g.155294574G>ACA421245587PKLRc.873C>T (p.Ala291=)
c.780C>T (p.Ala260=)
c.1032C>T (p.Ala344=)
c.681C>T (p.Ala227=)
1g.155294574G>CCA421245589PKLRc.873C>G (p.Ala291=)
c.780C>G (p.Ala260=)
c.1032C>G (p.Ala344=)
c.681C>G (p.Ala227=)
1g.155294574G>TCA421245588PKLRc.873C>A (p.Ala291=)
c.780C>A (p.Ala260=)
c.1032C>A (p.Ala344=)
c.681C>A (p.Ala227=)
1g.155294575G>ACA342754076PKLRc.872C>T (p.Ala291Val)
c.779C>T (p.Ala260Val)
c.1031C>T (p.Ala344Val)
c.680C>T (p.Ala227Val)
1g.155294575G>CCA342754078PKLRc.872C>G (p.Ala291Gly)
c.779C>G (p.Ala260Gly)
c.1031C>G (p.Ala344Gly)
c.680C>G (p.Ala227Gly)
1g.155294575G>TCA342754079PKLRc.872C>A (p.Ala291Asp)
c.779C>A (p.Ala260Asp)
c.1031C>A (p.Ala344Asp)
c.680C>A (p.Ala227Asp)
1g.155294576C>ACA342754083PKLRc.871G>T (p.Ala291Ser)
c.778G>T (p.Ala260Ser)
c.1030G>T (p.Ala344Ser)
c.679G>T (p.Ala227Ser)
1g.155294576C>GCA342754086PKLRc.871G>C (p.Ala291Pro)
c.778G>C (p.Ala260Pro)
c.1030G>C (p.Ala344Pro)
c.679G>C (p.Ala227Pro)
1g.155294576C>TCA342754084PKLRc.871G>A (p.Ala291Thr)
c.778G>A (p.Ala260Thr)
c.1030G>A (p.Ala344Thr)
c.679G>A (p.Ala227Thr)
1g.155294577T>ACA342754089PKLRc.870A>T (p.Lys290Asn)
c.777A>T (p.Lys259Asn)
c.1029A>T (p.Lys343Asn)
c.678A>T (p.Lys226Asn)
1g.155294577T>CCA421245592PKLRc.870A>G (p.Lys290=)
c.777A>G (p.Lys259=)
c.1029A>G (p.Lys343=)
c.678A>G (p.Lys226=)
 dbSNP
1g.155294577T>GCA342754090PKLRc.870A>C (p.Lys290Asn)
c.777A>C (p.Lys259Asn)
c.1029A>C (p.Lys343Asn)
c.678A>C (p.Lys226Asn)
 gnomAD v4
1g.155294577T=CA1200112214PKLRc.870A= (p.Lys290=)
c.777A= (p.Lys259=)
c.1029A= (p.Lys343=)
c.678A= (p.Lys226=)
1g.155294578T>ACA342754093PKLRc.869A>T (p.Lys290Ile)
c.776A>T (p.Lys259Ile)
c.1028A>T (p.Lys343Ile)
c.677A>T (p.Lys226Ile)
1g.155294578T>CCA30903255PKLRc.869A>G (p.Lys290Arg)
c.776A>G (p.Lys259Arg)
c.1028A>G (p.Lys343Arg)
c.677A>G (p.Lys226Arg)
 dbSNP
1g.155294578T>GCA342754096PKLRc.869A>C (p.Lys290Thr)
c.776A>C (p.Lys259Thr)
c.1028A>C (p.Lys343Thr)
c.677A>C (p.Lys226Thr)
1g.155294578T=CA1200112215PKLRc.869A= (p.Lys290=)
c.776A= (p.Lys259=)
c.1028A= (p.Lys343=)
c.677A= (p.Lys226=)
1g.155294579T>ACA342754097PKLRc.868A>T (p.Lys290Ter)
c.775A>T (p.Lys259Ter)
c.1027A>T (p.Lys343Ter)
c.676A>T (p.Lys226Ter)
1g.155294579T>CCA342754098PKLRc.868A>G (p.Lys290Glu)
c.775A>G (p.Lys259Glu)
c.1027A>G (p.Lys343Glu)
c.676A>G (p.Lys226Glu)
1g.155294579T>GCA342754100PKLRc.868A>C (p.Lys290Gln)
c.775A>C (p.Lys259Gln)
c.1027A>C (p.Lys343Gln)
c.676A>C (p.Lys226Gln)
1g.155294580C>ACA421245594PKLRc.867G>T (p.Arg289=)
c.774G>T (p.Arg258=)
c.1026G>T (p.Arg342=)
c.675G>T (p.Arg225=)
1g.155294580C>GCA421245596PKLRc.867G>C (p.Arg289=)
c.774G>C (p.Arg258=)
c.1026G>C (p.Arg342=)
c.675G>C (p.Arg225=)
1g.155294580C>TCA421245598PKLRc.867G>A (p.Arg289=)
c.774G>A (p.Arg258=)
c.1026G>A (p.Arg342=)
c.675G>A (p.Arg225=)
1g.155294581C>ACA342754103PKLRc.866G>T (p.Arg289Leu)
c.773G>T (p.Arg258Leu)
c.1025G>T (p.Arg342Leu)
c.674G>T (p.Arg225Leu)
 COSMIC
1g.155294581C=CA1149134989PKLRc.866G= (p.Arg289=)
c.773G= (p.Arg258=)
c.1025G= (p.Arg342=)
c.674G= (p.Arg225=)
1g.155294581C>GCA342754105PKLRc.866G>C (p.Arg289Pro)
c.773G>C (p.Arg258Pro)
c.1025G>C (p.Arg342Pro)
c.674G>C (p.Arg225Pro)
1g.155294581C>TCA1144191PKLRc.866G>A (p.Arg289Gln)
c.773G>A (p.Arg258Gln)
c.1025G>A (p.Arg342Gln)
c.674G>A (p.Arg225Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294582G>ACA342754107PKLRc.865C>T (p.Arg289Trp)
c.772C>T (p.Arg258Trp)
c.1024C>T (p.Arg342Trp)
c.673C>T (p.Arg225Trp)
1g.155294582G>CCA342754109PKLRc.865C>G (p.Arg289Gly)
c.772C>G (p.Arg258Gly)
c.1024C>G (p.Arg342Gly)
c.673C>G (p.Arg225Gly)
1g.155294582G>TCA421245601PKLRc.865C>A (p.Arg289=)
c.772C>A (p.Arg258=)
c.1024C>A (p.Arg342=)
c.673C>A (p.Arg225=)
 dbSNP gnomAD v4
1g.155294583C>ACA421245602PKLRc.864G>T (p.Val288=)
c.771G>T (p.Val257=)
c.1023G>T (p.Val341=)
c.672G>T (p.Val224=)
1g.155294583C>GCA421245603PKLRc.864G>C (p.Val288=)
c.771G>C (p.Val257=)
c.1023G>C (p.Val341=)
c.672G>C (p.Val224=)
1g.155294583C>TCA421245604PKLRc.864G>A (p.Val288=)
c.771G>A (p.Val257=)
c.1023G>A (p.Val341=)
c.672G>A (p.Val224=)
1g.155294584A>CCA342754112PKLRc.863T>G (p.Val288Gly)
c.770T>G (p.Val257Gly)
c.1022T>G (p.Val341Gly)
c.671T>G (p.Val224Gly)
1g.155294584A>GCA342754115PKLRc.863T>C (p.Val288Ala)
c.770T>C (p.Val257Ala)
c.1022T>C (p.Val341Ala)
c.671T>C (p.Val224Ala)
 gnomAD v4
1g.155294584A>TCA342754113PKLRc.863T>A (p.Val288Glu)
c.770T>A (p.Val257Glu)
c.1022T>A (p.Val341Glu)
c.671T>A (p.Val224Glu)
1g.155294585C>ACA342754118PKLRc.862G>T (p.Val288Leu)
c.769G>T (p.Val257Leu)
c.1021G>T (p.Val341Leu)
c.670G>T (p.Val224Leu)
 gnomAD v4
1g.155294585C>GCA342754120PKLRc.862G>C (p.Val288Leu)
c.769G>C (p.Val257Leu)
c.1021G>C (p.Val341Leu)
c.670G>C (p.Val224Leu)
1g.155294585C>TCA342754122PKLRc.862G>A (p.Val288Met)
c.769G>A (p.Val257Met)
c.1021G>A (p.Val341Met)
c.670G>A (p.Val224Met)
 gnomAD v4
1g.155294586A>CCA342754124PKLRc.861T>G (p.Phe287Leu)
c.768T>G (p.Phe256Leu)
c.1020T>G (p.Phe340Leu)
c.669T>G (p.Phe223Leu)
1g.155294586A>GCA421245607PKLRc.861T>C (p.Phe287=)
c.768T>C (p.Phe256=)
c.1020T>C (p.Phe340=)
c.669T>C (p.Phe223=)
1g.155294586A>TCA342754126PKLRc.861T>A (p.Phe287Leu)
c.768T>A (p.Phe256Leu)
c.1020T>A (p.Phe340Leu)
c.669T>A (p.Phe223Leu)
1g.155294587A>CCA342754128PKLRc.860T>G (p.Phe287Cys)
c.767T>G (p.Phe256Cys)
c.1019T>G (p.Phe340Cys)
c.668T>G (p.Phe223Cys)
1g.155294587A>GCA342754130PKLRc.860T>C (p.Phe287Ser)
c.767T>C (p.Phe256Ser)
c.1019T>C (p.Phe340Ser)
c.668T>C (p.Phe223Ser)
1g.155294587A>TCA342754132PKLRc.860T>A (p.Phe287Tyr)
c.767T>A (p.Phe256Tyr)
c.1019T>A (p.Phe340Tyr)
c.668T>A (p.Phe223Tyr)
1g.155294588A>CCA342754134PKLRc.859T>G (p.Phe287Val)
c.766T>G (p.Phe256Val)
c.1018T>G (p.Phe340Val)
c.667T>G (p.Phe223Val)
1g.155294588A>GCA342754137PKLRc.859T>C (p.Phe287Leu)
c.766T>C (p.Phe256Leu)
c.1018T>C (p.Phe340Leu)
c.667T>C (p.Phe223Leu)
1g.155294588A>TCA342754138PKLRc.859T>A (p.Phe287Ile)
c.766T>A (p.Phe256Ile)
c.1018T>A (p.Phe340Ile)
c.667T>A (p.Phe223Ile)
1g.155294589G>ACA421245609PKLRc.858C>T (p.Ser286=)
c.765C>T (p.Ser255=)
c.1017C>T (p.Ser339=)
c.666C>T (p.Ser222=)
 dbSNP gnomAD v3 gnomAD v4
1g.155294589G>CCA421245610PKLRc.858C>G (p.Ser286=)
c.765C>G (p.Ser255=)
c.1017C>G (p.Ser339=)
c.666C>G (p.Ser222=)
1g.155294589G=CA1142370442PKLRc.858C= (p.Ser286=)
c.765C= (p.Ser255=)
c.1017C= (p.Ser339=)
c.666C= (p.Ser222=)
1g.155294589G>TCA1144192PKLRc.858C>A (p.Ser286=)
c.765C>A (p.Ser255=)
c.1017C>A (p.Ser339=)
c.666C>A (p.Ser222=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294590G>ACA342754144PKLRc.857C>T (p.Ser286Phe)
c.764C>T (p.Ser255Phe)
c.1016C>T (p.Ser339Phe)
c.665C>T (p.Ser222Phe)
1g.155294590G>CCA342754141PKLRc.857C>G (p.Ser286Cys)
c.764C>G (p.Ser255Cys)
c.1016C>G (p.Ser339Cys)
c.665C>G (p.Ser222Cys)
 gnomAD v4
1g.155294590G>TCA342754143PKLRc.857C>A (p.Ser286Tyr)
c.764C>A (p.Ser255Tyr)
c.1016C>A (p.Ser339Tyr)
c.665C>A (p.Ser222Tyr)
1g.155294591A>CCA342754147PKLRc.856T>G (p.Ser286Ala)
c.763T>G (p.Ser255Ala)
c.1015T>G (p.Ser339Ala)
c.664T>G (p.Ser222Ala)
1g.155294591A>GCA342754148PKLRc.856T>C (p.Ser286Pro)
c.763T>C (p.Ser255Pro)
c.1015T>C (p.Ser339Pro)
c.664T>C (p.Ser222Pro)
 gnomAD v4
1g.155294591A>TCA342754150PKLRc.856T>A (p.Ser286Thr)
c.763T>A (p.Ser255Thr)
c.1015T>A (p.Ser339Thr)
c.664T>A (p.Ser222Thr)
1g.155294592G>ACA421245617PKLRc.855C>T (p.Ala285=)
c.762C>T (p.Ala254=)
c.1014C>T (p.Ala338=)
c.663C>T (p.Ala221=)
1g.155294592G>CCA421245618PKLRc.855C>G (p.Ala285=)
c.762C>G (p.Ala254=)
c.1014C>G (p.Ala338=)
c.663C>G (p.Ala221=)
1g.155294592G>TCA421245619PKLRc.855C>A (p.Ala285=)
c.762C>A (p.Ala254=)
c.1014C>A (p.Ala338=)
c.663C>A (p.Ala221=)
1g.155294593G>ACA342754152PKLRc.854C>T (p.Ala285Val)
c.761C>T (p.Ala254Val)
c.1013C>T (p.Ala338Val)
c.662C>T (p.Ala221Val)
1g.155294593G>CCA342754154PKLRc.854C>G (p.Ala285Gly)
c.761C>G (p.Ala254Gly)
c.1013C>G (p.Ala338Gly)
c.662C>G (p.Ala221Gly)
1g.155294593G>TCA342754156PKLRc.854C>A (p.Ala285Asp)
c.761C>A (p.Ala254Asp)
c.1013C>A (p.Ala338Asp)
c.662C>A (p.Ala221Asp)
1g.155294594C>ACA342754158PKLRc.853G>T (p.Ala285Ser)
c.760G>T (p.Ala254Ser)
c.1012G>T (p.Ala338Ser)
c.661G>T (p.Ala221Ser)
1g.155294594C>GCA342754160PKLRc.853G>C (p.Ala285Pro)
c.760G>C (p.Ala254Pro)
c.1012G>C (p.Ala338Pro)
c.661G>C (p.Ala221Pro)
1g.155294594C>TCA342754162PKLRc.853G>A (p.Ala285Thr)
c.760G>A (p.Ala254Thr)
c.1012G>A (p.Ala338Thr)
c.661G>A (p.Ala221Thr)
1g.155294595A>CCA342754164PKLRc.852T>G (p.Phe284Leu)
c.759T>G (p.Phe253Leu)
c.1011T>G (p.Phe337Leu)
c.660T>G (p.Phe220Leu)
1g.155294595A>GCA421245624PKLRc.852T>C (p.Phe284=)
c.759T>C (p.Phe253=)
c.1011T>C (p.Phe337=)
c.660T>C (p.Phe220=)
 gnomAD v4
1g.155294595A>TCA342754166PKLRc.852T>A (p.Phe284Leu)
c.759T>A (p.Phe253Leu)
c.1011T>A (p.Phe337Leu)
c.660T>A (p.Phe220Leu)
1g.155294596A>CCA342754173PKLRc.851T>G (p.Phe284Cys)
c.758T>G (p.Phe253Cys)
c.1010T>G (p.Phe337Cys)
c.659T>G (p.Phe220Cys)
1g.155294596A>GCA342754171PKLRc.851T>C (p.Phe284Ser)
c.758T>C (p.Phe253Ser)
c.1010T>C (p.Phe337Ser)
c.659T>C (p.Phe220Ser)
1g.155294596A>TCA342754169PKLRc.851T>A (p.Phe284Tyr)
c.758T>A (p.Phe253Tyr)
c.1010T>A (p.Phe337Tyr)
c.659T>A (p.Phe220Tyr)
1g.155294597A>CCA342754176PKLRc.850T>G (p.Phe284Val)
c.757T>G (p.Phe253Val)
c.1009T>G (p.Phe337Val)
c.658T>G (p.Phe220Val)
1g.155294597A>GCA342754178PKLRc.850T>C (p.Phe284Leu)
c.757T>C (p.Phe253Leu)
c.1009T>C (p.Phe337Leu)
c.658T>C (p.Phe220Leu)
1g.155294597A>TCA342754179PKLRc.850T>A (p.Phe284Ile)
c.757T>A (p.Phe253Ile)
c.1009T>A (p.Phe337Ile)
c.658T>A (p.Phe220Ile)
1g.155294598G>ACA421245627PKLRc.849C>T (p.Val283=)
c.756C>T (p.Val252=)
c.1008C>T (p.Val336=)
c.657C>T (p.Val219=)
1g.155294598G>CCA421245626PKLRc.849C>G (p.Val283=)
c.756C>G (p.Val252=)
c.1008C>G (p.Val336=)
c.657C>G (p.Val219=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155294598G=CA1200112216PKLRc.849C= (p.Val283=)
c.756C= (p.Val252=)
c.1008C= (p.Val336=)
c.657C= (p.Val219=)
1g.155294598G>TCA421245625PKLRc.849C>A (p.Val283=)
c.756C>A (p.Val252=)
c.1008C>A (p.Val336=)
c.657C>A (p.Val219=)
1g.155294599A=CA1200112217PKLRc.848T= (p.Val283=)
c.755T= (p.Val252=)
c.1007T= (p.Val336=)
c.656T= (p.Val219=)
1g.155294599A>CCA342754182PKLRc.848T>G (p.Val283Gly)
c.755T>G (p.Val252Gly)
c.1007T>G (p.Val336Gly)
c.656T>G (p.Val219Gly)
 gnomAD v4
1g.155294599A>GCA342754184PKLRc.848T>C (p.Val283Ala)
c.755T>C (p.Val252Ala)
c.1007T>C (p.Val336Ala)
c.656T>C (p.Val219Ala)
 gnomAD v4
1g.155294599A>TCA342754186PKLRc.848T>A (p.Val283Asp)
c.755T>A (p.Val252Asp)
c.1007T>A (p.Val336Asp)
c.656T>A (p.Val219Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.155294600C>ACA342754192PKLRc.847G>T (p.Val283Phe)
c.754G>T (p.Val252Phe)
c.1006G>T (p.Val336Phe)
c.655G>T (p.Val219Phe)
1g.155294600C=CA1200112218PKLRc.847G= (p.Val283=)
c.754G= (p.Val252=)
c.1006G= (p.Val336=)
c.655G= (p.Val219=)
1g.155294600C>GCA342754188PKLRc.847G>C (p.Val283Leu)
c.754G>C (p.Val252Leu)
c.1006G>C (p.Val336Leu)
c.655G>C (p.Val219Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.155294600C>TCA342754190PKLRc.847G>A (p.Val283Ile)
c.754G>A (p.Val252Ile)
c.1006G>A (p.Val336Ile)
c.655G>A (p.Val219Ile)
 gnomAD v4
1g.155294600_155294601delinsCGCA1200112219PKLRc.846_847delinsCG (p.Ile282=)
c.753_754delinsCG (p.Ile251=)
c.1005_1006delinsCG (p.Ile335=)
c.654_655delinsCG (p.Ile218=)
1g.155294601delCA1144193PKLRc.846del (p.Ile282MetfsTer?)
c.753del (p.Ile251MetfsTer?)
c.1005del (p.Ile335MetfsTer?)
c.654del (p.Ile218MetfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294601G>ACA421245630PKLRc.846C>T (p.Ile282=)
c.753C>T (p.Ile251=)
c.1005C>T (p.Ile335=)
c.654C>T (p.Ile218=)
1g.155294601G>CCA30903276PKLRc.846C>G (p.Ile282Met)
c.753C>G (p.Ile251Met)
c.1005C>G (p.Ile335Met)
c.654C>G (p.Ile218Met)
 dbSNP gnomAD v4
1g.155294601G=CA1200112220PKLRc.846C= (p.Ile282=)
c.753C= (p.Ile251=)
c.1005C= (p.Ile335=)
c.654C= (p.Ile218=)
1g.155294601G>TCA421245629PKLRc.846C>A (p.Ile282=)
c.753C>A (p.Ile251=)
c.1005C>A (p.Ile335=)
c.654C>A (p.Ile218=)
1g.155294602A>CCA342754197PKLRc.845T>G (p.Ile282Ser)
c.752T>G (p.Ile251Ser)
c.1004T>G (p.Ile335Ser)
c.653T>G (p.Ile218Ser)
1g.155294602A>GCA342754199PKLRc.845T>C (p.Ile282Thr)
c.752T>C (p.Ile251Thr)
c.1004T>C (p.Ile335Thr)
c.653T>C (p.Ile218Thr)
 gnomAD v4
1g.155294602A>TCA342754200PKLRc.845T>A (p.Ile282Asn)
c.752T>A (p.Ile251Asn)
c.1004T>A (p.Ile335Asn)
c.653T>A (p.Ile218Asn)
1g.155294603T>ACA342754203PKLRc.844A>T (p.Ile282Phe)
c.751A>T (p.Ile251Phe)
c.1003A>T (p.Ile335Phe)
c.652A>T (p.Ile218Phe)
 ClinVar
1g.155294603T>CCA342754206PKLRc.844A>G (p.Ile282Val)
c.751A>G (p.Ile251Val)
c.1003A>G (p.Ile335Val)
c.652A>G (p.Ile218Val)
 gnomAD v4
1g.155294603T>GCA342754205PKLRc.844A>C (p.Ile282Leu)
c.751A>C (p.Ile251Leu)
c.1003A>C (p.Ile335Leu)
c.652A>C (p.Ile218Leu)
1g.155294604G>ACA421245634PKLRc.843C>T (p.Asp281=)
c.750C>T (p.Asp250=)
c.1002C>T (p.Asp334=)
c.651C>T (p.Asp217=)
 gnomAD v4
1g.155294604G>CCA342754209PKLRc.843C>G (p.Asp281Glu)
c.750C>G (p.Asp250Glu)
c.1002C>G (p.Asp334Glu)
c.651C>G (p.Asp217Glu)
1g.155294604G>TCA342754210PKLRc.843C>A (p.Asp281Glu)
c.750C>A (p.Asp250Glu)
c.1002C>A (p.Asp334Glu)
c.651C>A (p.Asp217Glu)
 gnomAD v4
1g.155294605T>ACA342754212PKLRc.842A>T (p.Asp281Val)
c.749A>T (p.Asp250Val)
c.1001A>T (p.Asp334Val)
c.650A>T (p.Asp217Val)
1g.155294605T>CCA342754214PKLRc.842A>G (p.Asp281Gly)
c.749A>G (p.Asp250Gly)
c.1001A>G (p.Asp334Gly)
c.650A>G (p.Asp217Gly)
1g.155294605T>GCA342754216PKLRc.842A>C (p.Asp281Ala)
c.749A>C (p.Asp250Ala)
c.1001A>C (p.Asp334Ala)
c.650A>C (p.Asp217Ala)
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.155294606C>ACA342754218PKLRc.841G>T (p.Asp281Tyr)
c.748G>T (p.Asp250Tyr)
c.1000G>T (p.Asp334Tyr)
c.649G>T (p.Asp217Tyr)
1g.155294606C=CA1200112221PKLRc.841G= (p.Asp281=)
c.748G= (p.Asp250=)
c.1000G= (p.Asp334=)
c.649G= (p.Asp217=)
1g.155294606C>GCA342754220PKLRc.841G>C (p.Asp281His)
c.748G>C (p.Asp250His)
c.1000G>C (p.Asp334His)
c.649G>C (p.Asp217His)
1g.155294606C>TCA342754222PKLRc.841G>A (p.Asp281Asn)
c.748G>A (p.Asp250Asn)
c.1000G>A (p.Asp334Asn)
c.649G>A (p.Asp217Asn)
 dbSNP gnomAD v4 COSMIC
1g.155294607C>ACA421245638PKLRc.840G>T (p.Val280=)
c.747G>T (p.Val249=)
c.999G>T (p.Val333=)
c.648G>T (p.Val216=)
1g.155294607C>GCA421245639PKLRc.840G>C (p.Val280=)
c.747G>C (p.Val249=)
c.999G>C (p.Val333=)
c.648G>C (p.Val216=)
1g.155294607C>TCA421245640PKLRc.840G>A (p.Val280=)
c.747G>A (p.Val249=)
c.999G>A (p.Val333=)
c.648G>A (p.Val216=)
1g.155294608A=CA1200112222PKLRc.839T= (p.Val280=)
c.746T= (p.Val249=)
c.998T= (p.Val333=)
c.647T= (p.Val216=)
1g.155294608A>CCA342754224PKLRc.839T>G (p.Val280Gly)
c.746T>G (p.Val249Gly)
c.998T>G (p.Val333Gly)
c.647T>G (p.Val216Gly)
 dbSNP
1g.155294608A>GCA342754225PKLRc.839T>C (p.Val280Ala)
c.746T>C (p.Val249Ala)
c.998T>C (p.Val333Ala)
c.647T>C (p.Val216Ala)
1g.155294608A>TCA342754227PKLRc.839T>A (p.Val280Glu)
c.746T>A (p.Val249Glu)
c.998T>A (p.Val333Glu)
c.647T>A (p.Val216Glu)
1g.155294609C>ACA342754233PKLRc.838G>T (p.Val280Leu)
c.745G>T (p.Val249Leu)
c.997G>T (p.Val333Leu)
c.646G>T (p.Val216Leu)
1g.155294609C=CA1200112223PKLRc.838G= (p.Val280=)
c.745G= (p.Val249=)
c.997G= (p.Val333=)
c.646G= (p.Val216=)
1g.155294609C>GCA342754232PKLRc.838G>C (p.Val280Leu)
c.745G>C (p.Val249Leu)
c.997G>C (p.Val333Leu)
c.646G>C (p.Val216Leu)
1g.155294609C>TCA342754230PKLRc.838G>A (p.Val280Met)
c.745G>A (p.Val249Met)
c.997G>A (p.Val333Met)
c.646G>A (p.Val216Met)
 dbSNP gnomAD v4
1g.155294610C>ACA421245647PKLRc.837G>T (p.Gly279=)
c.744G>T (p.Gly248=)
c.996G>T (p.Gly332=)
c.645G>T (p.Gly215=)
1g.155294610C=CA1200112224PKLRc.837G= (p.Gly279=)
c.744G= (p.Gly248=)
c.996G= (p.Gly332=)
c.645G= (p.Gly215=)
1g.155294610C>GCA1144194PKLRc.837G>C (p.Gly279=)
c.744G>C (p.Gly248=)
c.996G>C (p.Gly332=)
c.645G>C (p.Gly215=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294610C>TCA421245648PKLRc.837G>A (p.Gly279=)
c.744G>A (p.Gly248=)
c.996G>A (p.Gly332=)
c.645G>A (p.Gly215=)
 dbSNP gnomAD v4
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

Number of alleles fetched