Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.155291861G>ACA342751112PKLRc.1513C>T (p.Gln505Ter)
c.1420C>T (p.Gln474Ter)
c.1672C>T (p.Gln558Ter)
c.1321C>T (p.Gln441Ter)
1g.155291861G>CCA342751114PKLRc.1513C>G (p.Gln505Glu)
c.1420C>G (p.Gln474Glu)
c.1672C>G (p.Gln558Glu)
c.1321C>G (p.Gln441Glu)
 gnomAD v4
1g.155291861G>TCA342751113PKLRc.1513C>A (p.Gln505Lys)
c.1420C>A (p.Gln474Lys)
c.1672C>A (p.Gln558Lys)
c.1321C>A (p.Gln441Lys)
1g.155291862G>ACA421020181PKLRc.1512C>T (p.Arg504=)
c.1419C>T (p.Arg473=)
c.1671C>T (p.Arg557=)
c.1320C>T (p.Arg440=)
1g.155291862G>CCA421020182PKLRc.1512C>G (p.Arg504=)
c.1419C>G (p.Arg473=)
c.1671C>G (p.Arg557=)
c.1320C>G (p.Arg440=)
1g.155291862G=CA2481225420PKLRc.1512C= (p.Arg504=)
c.1419C= (p.Arg473=)
c.1671C= (p.Arg557=)
c.1320C= (p.Arg440=)
1g.155291862G>TCA1143976PKLRc.1512C>A (p.Arg504=)
c.1419C>A (p.Arg473=)
c.1671C>A (p.Arg557=)
c.1320C>A (p.Arg440=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155291863C>ACA1143977PKLRc.1511G>T (p.Arg504Leu)
c.1418G>T (p.Arg473Leu)
c.1670G>T (p.Arg557Leu)
c.1319G>T (p.Arg440Leu)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
1g.155291863C=CA1142796816PKLRc.1511G= (p.Arg504=)
c.1418G= (p.Arg473=)
c.1670G= (p.Arg557=)
c.1319G= (p.Arg440=)
1g.155291863C>GCA342751118PKLRc.1511G>C (p.Arg504Pro)
c.1418G>C (p.Arg473Pro)
c.1670G>C (p.Arg557Pro)
c.1319G>C (p.Arg440Pro)
1g.155291863C>TCA342751122PKLRc.1511G>A (p.Arg504His)
c.1418G>A (p.Arg473His)
c.1670G>A (p.Arg557His)
c.1319G>A (p.Arg440His)
 ClinVar dbSNP gnomAD v4
1g.155291864G>ACA30900305PKLRc.1510C>T (p.Arg504Cys)
c.1417C>T (p.Arg473Cys)
c.1669C>T (p.Arg557Cys)
c.1318C>T (p.Arg440Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155291864G>CCA342751124PKLRc.1510C>G (p.Arg504Gly)
c.1417C>G (p.Arg473Gly)
c.1669C>G (p.Arg557Gly)
c.1318C>G (p.Arg440Gly)
1g.155291864G=CA2481225421PKLRc.1510C= (p.Arg504=)
c.1417C= (p.Arg473=)
c.1669C= (p.Arg557=)
c.1318C= (p.Arg440=)
1g.155291864G>TCA342751125PKLRc.1510C>A (p.Arg504Ser)
c.1417C>A (p.Arg473Ser)
c.1669C>A (p.Arg557Ser)
c.1318C>A (p.Arg440Ser)
1g.155291865G>ACA421020183PKLRc.1509C>T (p.Ala503=)
c.1416C>T (p.Ala472=)
c.1668C>T (p.Ala556=)
c.1317C>T (p.Ala439=)
1g.155291865G>CCA421020184PKLRc.1509C>G (p.Ala503=)
c.1416C>G (p.Ala472=)
c.1668C>G (p.Ala556=)
c.1317C>G (p.Ala439=)
1g.155291865G>TCA421020185PKLRc.1509C>A (p.Ala503=)
c.1416C>A (p.Ala472=)
c.1668C>A (p.Ala556=)
c.1317C>A (p.Ala439=)
1g.155291866G>ACA1143978PKLRc.1508C>T (p.Ala503Val)
c.1415C>T (p.Ala472Val)
c.1667C>T (p.Ala556Val)
c.1316C>T (p.Ala439Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.155291866G>CCA342751132PKLRc.1508C>G (p.Ala503Gly)
c.1415C>G (p.Ala472Gly)
c.1667C>G (p.Ala556Gly)
c.1316C>G (p.Ala439Gly)
1g.155291866G=CA2481225422PKLRc.1508C= (p.Ala503=)
c.1415C= (p.Ala472=)
c.1667C= (p.Ala556=)
c.1316C= (p.Ala439=)
1g.155291866G>TCA342751127PKLRc.1508C>A (p.Ala503Asp)
c.1415C>A (p.Ala472Asp)
c.1667C>A (p.Ala556Asp)
c.1316C>A (p.Ala439Asp)
1g.155291867C>ACA342751139PKLRc.1507G>T (p.Ala503Ser)
c.1414G>T (p.Ala472Ser)
c.1666G>T (p.Ala556Ser)
c.1315G>T (p.Ala439Ser)
1g.155291867C=CA2481225423PKLRc.1507G= (p.Ala503=)
c.1414G= (p.Ala472=)
c.1666G= (p.Ala556=)
c.1315G= (p.Ala439=)
1g.155291867C>GCA342751140PKLRc.1507G>C (p.Ala503Pro)
c.1414G>C (p.Ala472Pro)
c.1666G>C (p.Ala556Pro)
c.1315G>C (p.Ala439Pro)
1g.155291867C>TCA342751144PKLRc.1507G>A (p.Ala503Thr)
c.1414G>A (p.Ala472Thr)
c.1666G>A (p.Ala556Thr)
c.1315G>A (p.Ala439Thr)
 dbSNP gnomAD v2
1g.155291871_155291891delCA2648267826PKLRc.1487_1507del (p.Val496_Ala502del)
c.1394_1414del (p.Val465_Ala471del)
c.1646_1666del (p.Val549_Ala555del)
c.1295_1315del (p.Val432_Ala438del)
 gnomAD v4
1g.155291868A>CCA421020186PKLRc.1506T>G (p.Ala502=)
c.1413T>G (p.Ala471=)
c.1665T>G (p.Ala555=)
c.1314T>G (p.Ala438=)
1g.155291868A>GCA421020187PKLRc.1506T>C (p.Ala502=)
c.1413T>C (p.Ala471=)
c.1665T>C (p.Ala555=)
c.1314T>C (p.Ala438=)
1g.155291868A>TCA421020188PKLRc.1506T>A (p.Ala502=)
c.1413T>A (p.Ala471=)
c.1665T>A (p.Ala555=)
c.1314T>A (p.Ala438=)
1g.155291869G>ACA342751148PKLRc.1505C>T (p.Ala502Val)
c.1412C>T (p.Ala471Val)
c.1664C>T (p.Ala555Val)
c.1313C>T (p.Ala438Val)
1g.155291869G>CCA342751152PKLRc.1505C>G (p.Ala502Gly)
c.1412C>G (p.Ala471Gly)
c.1664C>G (p.Ala555Gly)
c.1313C>G (p.Ala438Gly)
1g.155291869G>TCA342751154PKLRc.1505C>A (p.Ala502Asp)
c.1412C>A (p.Ala471Asp)
c.1664C>A (p.Ala555Asp)
c.1313C>A (p.Ala438Asp)
1g.155291870C>ACA342751158PKLRc.1504G>T (p.Ala502Ser)
c.1411G>T (p.Ala471Ser)
c.1663G>T (p.Ala555Ser)
c.1312G>T (p.Ala438Ser)
1g.155291870C>GCA342751165PKLRc.1504G>C (p.Ala502Pro)
c.1411G>C (p.Ala471Pro)
c.1663G>C (p.Ala555Pro)
c.1312G>C (p.Ala438Pro)
1g.155291870C>TCA342751162PKLRc.1504G>A (p.Ala502Thr)
c.1411G>A (p.Ala471Thr)
c.1663G>A (p.Ala555Thr)
c.1312G>A (p.Ala438Thr)
1g.155291871C>ACA342751169PKLRc.1503G>T (p.Gln501His)
c.1410G>T (p.Gln470His)
c.1662G>T (p.Gln554His)
c.1311G>T (p.Gln437His)
1g.155291871C>GCA342751180PKLRc.1503G>C (p.Gln501His)
c.1410G>C (p.Gln470His)
c.1662G>C (p.Gln554His)
c.1311G>C (p.Gln437His)
1g.155291871C>TCA421020189PKLRc.1503G>A (p.Gln501=)
c.1410G>A (p.Gln470=)
c.1662G>A (p.Gln554=)
c.1311G>A (p.Gln437=)
1g.155291872T>ACA342751184PKLRc.1502A>T (p.Gln501Leu)
c.1409A>T (p.Gln470Leu)
c.1661A>T (p.Gln554Leu)
c.1310A>T (p.Gln437Leu)
1g.155291872T>CCA342751185PKLRc.1502A>G (p.Gln501Arg)
c.1409A>G (p.Gln470Arg)
c.1661A>G (p.Gln554Arg)
c.1310A>G (p.Gln437Arg)
1g.155291872T>GCA342751186PKLRc.1502A>C (p.Gln501Pro)
c.1409A>C (p.Gln470Pro)
c.1661A>C (p.Gln554Pro)
c.1310A>C (p.Gln437Pro)
1g.155291873G>ACA342751189PKLRc.1501C>T (p.Gln501Ter)
c.1408C>T (p.Gln470Ter)
c.1660C>T (p.Gln554Ter)
c.1309C>T (p.Gln437Ter)
1g.155291873G>CCA342751191PKLRc.1501C>G (p.Gln501Glu)
c.1408C>G (p.Gln470Glu)
c.1660C>G (p.Gln554Glu)
c.1309C>G (p.Gln437Glu)
1g.155291873G>TCA342751194PKLRc.1501C>A (p.Gln501Lys)
c.1408C>A (p.Gln470Lys)
c.1660C>A (p.Gln554Lys)
c.1309C>A (p.Gln437Lys)
1g.155291874G>ACA421020192PKLRc.1500C>T (p.Ala500=)
c.1407C>T (p.Ala469=)
c.1659C>T (p.Ala553=)
c.1308C>T (p.Ala436=)
 gnomAD v4
1g.155291874G>CCA421020190PKLRc.1500C>G (p.Ala500=)
c.1407C>G (p.Ala469=)
c.1659C>G (p.Ala553=)
c.1308C>G (p.Ala436=)
 gnomAD v4
1g.155291874G>TCA421020191PKLRc.1500C>A (p.Ala500=)
c.1407C>A (p.Ala469=)
c.1659C>A (p.Ala553=)
c.1308C>A (p.Ala436=)
1g.155291875G>ACA342751196PKLRc.1499C>T (p.Ala500Val)
c.1406C>T (p.Ala469Val)
c.1658C>T (p.Ala553Val)
c.1307C>T (p.Ala436Val)
1g.155291875G>CCA342751197PKLRc.1499C>G (p.Ala500Gly)
c.1406C>G (p.Ala469Gly)
c.1658C>G (p.Ala553Gly)
c.1307C>G (p.Ala436Gly)
1g.155291875G>TCA342751200PKLRc.1499C>A (p.Ala500Asp)
c.1406C>A (p.Ala469Asp)
c.1658C>A (p.Ala553Asp)
c.1307C>A (p.Ala436Asp)
1g.155291876C>ACA342751203PKLRc.1498G>T (p.Ala500Ser)
c.1405G>T (p.Ala469Ser)
c.1657G>T (p.Ala553Ser)
c.1306G>T (p.Ala436Ser)
1g.155291876C>GCA342751206PKLRc.1498G>C (p.Ala500Pro)
c.1405G>C (p.Ala469Pro)
c.1657G>C (p.Ala553Pro)
c.1306G>C (p.Ala436Pro)
1g.155291876C>TCA342751205PKLRc.1498G>A (p.Ala500Thr)
c.1405G>A (p.Ala469Thr)
c.1657G>A (p.Ala553Thr)
c.1306G>A (p.Ala436Thr)
 gnomAD v4
1g.155291877A>CCA421020193PKLRc.1497T>G (p.Ser499=)
c.1404T>G (p.Ser468=)
c.1656T>G (p.Ser552=)
c.1305T>G (p.Ser435=)
1g.155291877A>GCA421020195PKLRc.1497T>C (p.Ser499=)
c.1404T>C (p.Ser468=)
c.1656T>C (p.Ser552=)
c.1305T>C (p.Ser435=)
1g.155291877A>TCA421020194PKLRc.1497T>A (p.Ser499=)
c.1404T>A (p.Ser468=)
c.1656T>A (p.Ser552=)
c.1305T>A (p.Ser435=)
1g.155291878G>ACA342751209PKLRc.1496C>T (p.Ser499Phe)
c.1403C>T (p.Ser468Phe)
c.1655C>T (p.Ser552Phe)
c.1304C>T (p.Ser435Phe)
 COSMIC
1g.155291878G>CCA342751210PKLRc.1496C>G (p.Ser499Cys)
c.1403C>G (p.Ser468Cys)
c.1655C>G (p.Ser552Cys)
c.1304C>G (p.Ser435Cys)
1g.155291878G>TCA342751212PKLRc.1496C>A (p.Ser499Tyr)
c.1403C>A (p.Ser468Tyr)
c.1655C>A (p.Ser552Tyr)
c.1304C>A (p.Ser435Tyr)
1g.155291879A>CCA342751213PKLRc.1495T>G (p.Ser499Ala)
c.1402T>G (p.Ser468Ala)
c.1654T>G (p.Ser552Ala)
c.1303T>G (p.Ser435Ala)
1g.155291879A>GCA342751214PKLRc.1495T>C (p.Ser499Pro)
c.1402T>C (p.Ser468Pro)
c.1654T>C (p.Ser552Pro)
c.1303T>C (p.Ser435Pro)
1g.155291879A>TCA342751216PKLRc.1495T>A (p.Ser499Thr)
c.1402T>A (p.Ser468Thr)
c.1654T>A (p.Ser552Thr)
c.1303T>A (p.Ser435Thr)
1g.155291880G>ACA421020196PKLRc.1494C>T (p.Arg498=)
c.1401C>T (p.Arg467=)
c.1653C>T (p.Arg551=)
c.1302C>T (p.Arg434=)
 dbSNP gnomAD v2 gnomAD v4
1g.155291880G>CCA421020197PKLRc.1494C>G (p.Arg498=)
c.1401C>G (p.Arg467=)
c.1653C>G (p.Arg551=)
c.1302C>G (p.Arg434=)
1g.155291880G=CA2481225424PKLRc.1494C= (p.Arg498=)
c.1401C= (p.Arg467=)
c.1653C= (p.Arg551=)
c.1302C= (p.Arg434=)
1g.155291880G>TCA421020198PKLRc.1494C>A (p.Arg498=)
c.1401C>A (p.Arg467=)
c.1653C>A (p.Arg551=)
c.1302C>A (p.Arg434=)
1g.155291881C>ACA342751218PKLRc.1493G>T (p.Arg498Leu)
c.1400G>T (p.Arg467Leu)
c.1652G>T (p.Arg551Leu)
c.1301G>T (p.Arg434Leu)
1g.155291881C=CA2481225425PKLRc.1493G= (p.Arg498=)
c.1400G= (p.Arg467=)
c.1652G= (p.Arg551=)
c.1301G= (p.Arg434=)
1g.155291881C>GCA342751219PKLRc.1493G>C (p.Arg498Pro)
c.1400G>C (p.Arg467Pro)
c.1652G>C (p.Arg551Pro)
c.1301G>C (p.Arg434Pro)
1g.155291881C>TCA1143979PKLRc.1493G>A (p.Arg498His)
c.1400G>A (p.Arg467His)
c.1652G>A (p.Arg551His)
c.1301G>A (p.Arg434His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.155291882G>ACA1143981PKLRc.1492C>T (p.Arg498Cys)
c.1399C>T (p.Arg467Cys)
c.1651C>T (p.Arg551Cys)
c.1300C>T (p.Arg434Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155291882G>CCA342751223PKLRc.1492C>G (p.Arg498Gly)
c.1399C>G (p.Arg467Gly)
c.1651C>G (p.Arg551Gly)
c.1300C>G (p.Arg434Gly)
1g.155291882G=CA1146112422PKLRc.1492C= (p.Arg498=)
c.1399C= (p.Arg467=)
c.1651C= (p.Arg551=)
c.1300C= (p.Arg434=)
1g.155291882G>TCA1143980PKLRc.1492C>A (p.Arg498Ser)
c.1399C>A (p.Arg467Ser)
c.1651C>A (p.Arg551Ser)
c.1300C>A (p.Arg434Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155291883G>ACA1143982PKLRc.1491C>T (p.Thr497=)
c.1398C>T (p.Thr466=)
c.1650C>T (p.Thr550=)
c.1299C>T (p.Thr433=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155291883G>CCA421020199PKLRc.1491C>G (p.Thr497=)
c.1398C>G (p.Thr466=)
c.1650C>G (p.Thr550=)
c.1299C>G (p.Thr433=)
1g.155291883G=CA2481225426PKLRc.1491C= (p.Thr497=)
c.1398C= (p.Thr466=)
c.1650C= (p.Thr550=)
c.1299C= (p.Thr433=)
1g.155291883G>TCA421020200PKLRc.1491C>A (p.Thr497=)
c.1398C>A (p.Thr466=)
c.1650C>A (p.Thr550=)
c.1299C>A (p.Thr433=)
1g.155291884G>ACA342751228PKLRc.1490C>T (p.Thr497Ile)
c.1397C>T (p.Thr466Ile)
c.1649C>T (p.Thr550Ile)
c.1298C>T (p.Thr433Ile)
1g.155291884G>CCA342751230PKLRc.1490C>G (p.Thr497Ser)
c.1397C>G (p.Thr466Ser)
c.1649C>G (p.Thr550Ser)
c.1298C>G (p.Thr433Ser)
1g.155291884G=CA2481225427PKLRc.1490C= (p.Thr497=)
c.1397C= (p.Thr466=)
c.1649C= (p.Thr550=)
c.1298C= (p.Thr433=)
1g.155291884G>TCA342751232PKLRc.1490C>A (p.Thr497Asn)
c.1397C>A (p.Thr466Asn)
c.1649C>A (p.Thr550Asn)
c.1298C>A (p.Thr433Asn)
 dbSNP gnomAD v3 gnomAD v4
1g.155291885T>ACA342751233PKLRc.1489A>T (p.Thr497Ser)
c.1396A>T (p.Thr466Ser)
c.1648A>T (p.Thr550Ser)
c.1297A>T (p.Thr433Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.155291885T>CCA342751235PKLRc.1489A>G (p.Thr497Ala)
c.1396A>G (p.Thr466Ala)
c.1648A>G (p.Thr550Ala)
c.1297A>G (p.Thr433Ala)
1g.155291885T>GCA342751237PKLRc.1489A>C (p.Thr497Pro)
c.1396A>C (p.Thr466Pro)
c.1648A>C (p.Thr550Pro)
c.1297A>C (p.Thr433Pro)
1g.155291885T=CA2481225428PKLRc.1489A= (p.Thr497=)
c.1396A= (p.Thr466=)
c.1648A= (p.Thr550=)
c.1297A= (p.Thr433=)
1g.155291886delCA2586967521PKLRc.1488del (p.Thr497ProfsTer?)
c.1395del (p.Thr466ProfsTer?)
c.1647del (p.Thr550ProfsTer?)
c.1296del (p.Thr433ProfsTer?)
1g.155291886G>ACA421020201PKLRc.1488C>T (p.Val496=)
c.1395C>T (p.Val465=)
c.1647C>T (p.Val549=)
c.1296C>T (p.Val432=)
 dbSNP gnomAD v4
1g.155291886G>CCA421020202PKLRc.1488C>G (p.Val496=)
c.1395C>G (p.Val465=)
c.1647C>G (p.Val549=)
c.1296C>G (p.Val432=)
1g.155291886G=CA2481225429PKLRc.1488C= (p.Val496=)
c.1395C= (p.Val465=)
c.1647C= (p.Val549=)
c.1296C= (p.Val432=)
1g.155291886G>TCA421020203PKLRc.1488C>A (p.Val496=)
c.1395C>A (p.Val465=)
c.1647C>A (p.Val549=)
c.1296C>A (p.Val432=)
1g.155291887A>CCA342751240PKLRc.1487T>G (p.Val496Gly)
c.1394T>G (p.Val465Gly)
c.1646T>G (p.Val549Gly)
c.1295T>G (p.Val432Gly)
1g.155291887A>GCA342751241PKLRc.1487T>C (p.Val496Ala)
c.1394T>C (p.Val465Ala)
c.1646T>C (p.Val549Ala)
c.1295T>C (p.Val432Ala)
1g.155291887A>TCA342751242PKLRc.1487T>A (p.Val496Asp)
c.1394T>A (p.Val465Asp)
c.1646T>A (p.Val549Asp)
c.1295T>A (p.Val432Asp)
1g.155291888C>ACA342751245PKLRc.1486G>T (p.Val496Phe)
c.1393G>T (p.Val465Phe)
c.1645G>T (p.Val549Phe)
c.1294G>T (p.Val432Phe)
1g.155291888C>GCA342751246PKLRc.1486G>C (p.Val496Leu)
c.1393G>C (p.Val465Leu)
c.1645G>C (p.Val549Leu)
c.1294G>C (p.Val432Leu)
1g.155291888C>TCA342751247PKLRc.1486G>A (p.Val496Ile)
c.1393G>A (p.Val465Ile)
c.1645G>A (p.Val549Ile)
c.1294G>A (p.Val432Ile)
1g.155291889A>CCA421020204PKLRc.1485T>G (p.Ala495=)
c.1392T>G (p.Ala464=)
c.1644T>G (p.Ala548=)
c.1293T>G (p.Ala431=)
1g.155291889A>GCA421020205PKLRc.1485T>C (p.Ala495=)
c.1392T>C (p.Ala464=)
c.1644T>C (p.Ala548=)
c.1293T>C (p.Ala431=)
1g.155291889A>TCA421020206PKLRc.1485T>A (p.Ala495=)
c.1392T>A (p.Ala464=)
c.1644T>A (p.Ala548=)
c.1293T>A (p.Ala431=)
1g.155291890G>ACA1143983PKLRc.1484C>T (p.Ala495Val)
c.1391C>T (p.Ala464Val)
c.1643C>T (p.Ala548Val)
c.1292C>T (p.Ala431Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155291890G>CCA342751251PKLRc.1484C>G (p.Ala495Gly)
c.1391C>G (p.Ala464Gly)
c.1643C>G (p.Ala548Gly)
c.1292C>G (p.Ala431Gly)
1g.155291890G=CA1141812539PKLRc.1484C= (p.Ala495=)
c.1391C= (p.Ala464=)
c.1643C= (p.Ala548=)
c.1292C= (p.Ala431=)
1g.155291890G>TCA342751249PKLRc.1484C>A (p.Ala495Asp)
c.1391C>A (p.Ala464Asp)
c.1643C>A (p.Ala548Asp)
c.1292C>A (p.Ala431Asp)
1g.155291891C>ACA342751256PKLRc.1483G>T (p.Ala495Ser)
c.1390G>T (p.Ala464Ser)
c.1642G>T (p.Ala548Ser)
c.1291G>T (p.Ala431Ser)
 gnomAD v4
1g.155291891C>GCA342751253PKLRc.1483G>C (p.Ala495Pro)
c.1390G>C (p.Ala464Pro)
c.1642G>C (p.Ala548Pro)
c.1291G>C (p.Ala431Pro)
1g.155291891C>TCA342751255PKLRc.1483G>A (p.Ala495Thr)
c.1390G>A (p.Ala464Thr)
c.1642G>A (p.Ala548Thr)
c.1291G>A (p.Ala431Thr)
 ClinVar gnomAD v4
1g.155291892A>CCA342751258PKLRc.1482T>G (p.Ile494Met)
c.1389T>G (p.Ile463Met)
c.1641T>G (p.Ile547Met)
c.1290T>G (p.Ile430Met)
1g.155291892A>GCA421020208PKLRc.1482T>C (p.Ile494=)
c.1389T>C (p.Ile463=)
c.1641T>C (p.Ile547=)
c.1290T>C (p.Ile430=)
1g.155291892A>TCA421020207PKLRc.1482T>A (p.Ile494=)
c.1389T>A (p.Ile463=)
c.1641T>A (p.Ile547=)
c.1290T>A (p.Ile430=)
1g.155291893A=CA2481225430PKLRc.1481T= (p.Ile494=)
c.1388T= (p.Ile463=)
c.1640T= (p.Ile547=)
c.1289T= (p.Ile430=)
1g.155291893A>CCA342751261PKLRc.1481T>G (p.Ile494Ser)
c.1388T>G (p.Ile463Ser)
c.1640T>G (p.Ile547Ser)
c.1289T>G (p.Ile430Ser)
1g.155291893A>GCA342751262PKLRc.1481T>C (p.Ile494Thr)
c.1388T>C (p.Ile463Thr)
c.1640T>C (p.Ile547Thr)
c.1289T>C (p.Ile430Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155291893A>TCA342751264PKLRc.1481T>A (p.Ile494Asn)
c.1388T>A (p.Ile463Asn)
c.1640T>A (p.Ile547Asn)
c.1289T>A (p.Ile430Asn)
1g.155291894T>ACA342751267PKLRc.1480A>T (p.Ile494Phe)
c.1387A>T (p.Ile463Phe)
c.1639A>T (p.Ile547Phe)
c.1288A>T (p.Ile430Phe)
1g.155291894T>CCA342751268PKLRc.1480A>G (p.Ile494Val)
c.1387A>G (p.Ile463Val)
c.1639A>G (p.Ile547Val)
c.1288A>G (p.Ile430Val)
1g.155291894T>GCA342751270PKLRc.1480A>C (p.Ile494Leu)
c.1387A>C (p.Ile463Leu)
c.1639A>C (p.Ile547Leu)
c.1288A>C (p.Ile430Leu)
1g.155291895G>ACA421020209PKLRc.1479C>T (p.Val493=)
c.1386C>T (p.Val462=)
c.1638C>T (p.Val546=)
c.1287C>T (p.Val429=)
1g.155291895G>CCA421020211PKLRc.1479C>G (p.Val493=)
c.1386C>G (p.Val462=)
c.1638C>G (p.Val546=)
c.1287C>G (p.Val429=)
1g.155291895G>TCA421020210PKLRc.1479C>A (p.Val493=)
c.1386C>A (p.Val462=)
c.1638C>A (p.Val546=)
c.1287C>A (p.Val429=)
1g.155291896A=CA1149119385PKLRc.1478T= (p.Val493=)
c.1385T= (p.Val462=)
c.1637T= (p.Val546=)
c.1286T= (p.Val429=)
1g.155291896A>CCA342751273PKLRc.1478T>G (p.Val493Gly)
c.1385T>G (p.Val462Gly)
c.1637T>G (p.Val546Gly)
c.1286T>G (p.Val429Gly)
1g.155291896A>GCA342751274PKLRc.1478T>C (p.Val493Ala)
c.1385T>C (p.Val462Ala)
c.1637T>C (p.Val546Ala)
c.1286T>C (p.Val429Ala)
1g.155291896A>TCA1143984PKLRc.1478T>A (p.Val493Asp)
c.1385T>A (p.Val462Asp)
c.1637T>A (p.Val546Asp)
c.1286T>A (p.Val429Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155291897C>ACA342751282PKLRc.1477G>T (p.Val493Phe)
c.1384G>T (p.Val462Phe)
c.1636G>T (p.Val546Phe)
c.1285G>T (p.Val429Phe)
1g.155291897C=CA2481225431PKLRc.1477G= (p.Val493=)
c.1384G= (p.Val462=)
c.1636G= (p.Val546=)
c.1285G= (p.Val429=)
1g.155291897C>GCA342751278PKLRc.1477G>C (p.Val493Leu)
c.1384G>C (p.Val462Leu)
c.1636G>C (p.Val546Leu)
c.1285G>C (p.Val429Leu)
1g.155291897C>TCA342751280PKLRc.1477G>A (p.Val493Ile)
c.1384G>A (p.Val462Ile)
c.1636G>A (p.Val546Ile)
c.1285G>A (p.Val429Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155291898T>ACA1143986PKLRc.1476A>T (p.Ala492=)
c.1383A>T (p.Ala461=)
c.1635A>T (p.Ala545=)
c.1284A>T (p.Ala428=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155291898T>CCA1143985PKLRc.1476A>G (p.Ala492=)
c.1383A>G (p.Ala461=)
c.1635A>G (p.Ala545=)
c.1284A>G (p.Ala428=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155291898T>GCA421020212PKLRc.1476A>C (p.Ala492=)
c.1383A>C (p.Ala461=)
c.1635A>C (p.Ala545=)
c.1284A>C (p.Ala428=)
1g.155291898T=CA2481225432PKLRc.1476A= (p.Ala492=)
c.1383A= (p.Ala461=)
c.1635A= (p.Ala545=)
c.1284A= (p.Ala428=)
1g.155291899G>ACA342751286PKLRc.1475C>T (p.Ala492Val)
c.1382C>T (p.Ala461Val)
c.1634C>T (p.Ala545Val)
c.1283C>T (p.Ala428Val)
1g.155291899G>CCA342751287PKLRc.1475C>G (p.Ala492Gly)
c.1382C>G (p.Ala461Gly)
c.1634C>G (p.Ala545Gly)
c.1283C>G (p.Ala428Gly)
1g.155291899G=CA2481225433PKLRc.1475C= (p.Ala492=)
c.1382C= (p.Ala461=)
c.1634C= (p.Ala545=)
c.1283C= (p.Ala428=)
1g.155291899G>TCA342751289PKLRc.1475C>A (p.Ala492Glu)
c.1382C>A (p.Ala461Glu)
c.1634C>A (p.Ala545Glu)
c.1283C>A (p.Ala428Glu)
 dbSNP gnomAD v4
1g.155291900C>ACA342751292PKLRc.1474G>T (p.Ala492Ser)
c.1381G>T (p.Ala461Ser)
c.1633G>T (p.Ala545Ser)
c.1282G>T (p.Ala428Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.155291900C=CA2481225434PKLRc.1474G= (p.Ala492=)
c.1381G= (p.Ala461=)
c.1633G= (p.Ala545=)
c.1282G= (p.Ala428=)
1g.155291900C>GCA342751293PKLRc.1474G>C (p.Ala492Pro)
c.1381G>C (p.Ala461Pro)
c.1633G>C (p.Ala545Pro)
c.1282G>C (p.Ala428Pro)
1g.155291900C>TCA342751295PKLRc.1474G>A (p.Ala492Thr)
c.1381G>A (p.Ala461Thr)
c.1633G>A (p.Ala545Thr)
c.1282G>A (p.Ala428Thr)
1g.155291901T>ACA421020213PKLRc.1473A>T (p.Ala491=)
c.1380A>T (p.Ala460=)
c.1632A>T (p.Ala544=)
c.1281A>T (p.Ala427=)
1g.155291901T>CCA421020214PKLRc.1473A>G (p.Ala491=)
c.1380A>G (p.Ala460=)
c.1632A>G (p.Ala544=)
c.1281A>G (p.Ala427=)
1g.155291901T>GCA421020215PKLRc.1473A>C (p.Ala491=)
c.1380A>C (p.Ala460=)
c.1632A>C (p.Ala544=)
c.1281A>C (p.Ala427=)
1g.155291902G>ACA342751298PKLRc.1472C>T (p.Ala491Val)
c.1379C>T (p.Ala460Val)
c.1631C>T (p.Ala544Val)
c.1280C>T (p.Ala427Val)
1g.155291902G>CCA342751299PKLRc.1472C>G (p.Ala491Gly)
c.1379C>G (p.Ala460Gly)
c.1631C>G (p.Ala544Gly)
c.1280C>G (p.Ala427Gly)
1g.155291902G>TCA342751301PKLRc.1472C>A (p.Ala491Glu)
c.1379C>A (p.Ala460Glu)
c.1631C>A (p.Ala544Glu)
c.1280C>A (p.Ala427Glu)
1g.155291903C>ACA342751306PKLRc.1471G>T (p.Ala491Ser)
c.1378G>T (p.Ala460Ser)
c.1630G>T (p.Ala544Ser)
c.1279G>T (p.Ala427Ser)
1g.155291903C>GCA342751308PKLRc.1471G>C (p.Ala491Pro)
c.1378G>C (p.Ala460Pro)
c.1630G>C (p.Ala544Pro)
c.1279G>C (p.Ala427Pro)
1g.155291903C>TCA342751304PKLRc.1471G>A (p.Ala491Thr)
c.1378G>A (p.Ala460Thr)
c.1630G>A (p.Ala544Thr)
c.1279G>A (p.Ala427Thr)
1g.155291904C>ACA421020216PKLRc.1470G>T (p.Arg490=)
c.1377G>T (p.Arg459=)
c.1629G>T (p.Arg543=)
c.1278G>T (p.Arg426=)
1g.155291904C>GCA421020217PKLRc.1470G>C (p.Arg490=)
c.1377G>C (p.Arg459=)
c.1629G>C (p.Arg543=)
c.1278G>C (p.Arg426=)
1g.155291904C>TCA421020218PKLRc.1470G>A (p.Arg490=)
c.1377G>A (p.Arg459=)
c.1629G>A (p.Arg543=)
c.1278G>A (p.Arg426=)
1g.155291905C>ACA1143988PKLRc.1469G>T (p.Arg490Leu)
c.1376G>T (p.Arg459Leu)
c.1628G>T (p.Arg543Leu)
c.1277G>T (p.Arg426Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155291905C=CA1148297382PKLRc.1469G= (p.Arg490=)
c.1376G= (p.Arg459=)
c.1628G= (p.Arg543=)
c.1277G= (p.Arg426=)
1g.155291905C>GCA342751311PKLRc.1469G>C (p.Arg490Pro)
c.1376G>C (p.Arg459Pro)
c.1628G>C (p.Arg543Pro)
c.1277G>C (p.Arg426Pro)
1g.155291905C>TCA1143987PKLRc.1469G>A (p.Arg490Gln)
c.1376G>A (p.Arg459Gln)
c.1628G>A (p.Arg543Gln)
c.1277G>A (p.Arg426Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.155291906G>ACA1143989PKLRc.1468C>T (p.Arg490Trp)
c.1375C>T (p.Arg459Trp)
c.1627C>T (p.Arg543Trp)
c.1276C>T (p.Arg426Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155291906G>CCA342751315PKLRc.1468C>G (p.Arg490Gly)
c.1375C>G (p.Arg459Gly)
c.1627C>G (p.Arg543Gly)
c.1276C>G (p.Arg426Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155291906G=CA1143397580PKLRc.1468C= (p.Arg490=)
c.1375C= (p.Arg459=)
c.1627C= (p.Arg543=)
c.1276C= (p.Arg426=)
1g.155291906G>TCA421020220PKLRc.1468C>A (p.Arg490=)
c.1375C>A (p.Arg459=)
c.1627C>A (p.Arg543=)
c.1276C>A (p.Arg426=)
1g.155291907A>CCA421020221PKLRc.1467T>G (p.Pro489=)
c.1374T>G (p.Pro458=)
c.1626T>G (p.Pro542=)
c.1275T>G (p.Pro425=)
1g.155291907A>GCA421020222PKLRc.1467T>C (p.Pro489=)
c.1374T>C (p.Pro458=)
c.1626T>C (p.Pro542=)
c.1275T>C (p.Pro425=)
 gnomAD v4
1g.155291907A>TCA421020223PKLRc.1467T>A (p.Pro489=)
c.1374T>A (p.Pro458=)
c.1626T>A (p.Pro542=)
c.1275T>A (p.Pro425=)
1g.155291908G>ACA342751319PKLRc.1466C>T (p.Pro489Leu)
c.1373C>T (p.Pro458Leu)
c.1625C>T (p.Pro542Leu)
c.1274C>T (p.Pro425Leu)
1g.155291908G>CCA342751320PKLRc.1466C>G (p.Pro489Arg)
c.1373C>G (p.Pro458Arg)
c.1625C>G (p.Pro542Arg)
c.1274C>G (p.Pro425Arg)
1g.155291908G>TCA342751322PKLRc.1466C>A (p.Pro489His)
c.1373C>A (p.Pro458His)
c.1625C>A (p.Pro542His)
c.1274C>A (p.Pro425His)
 gnomAD v4
1g.155291909G>ACA342751325PKLRc.1465C>T (p.Pro489Ser)
c.1372C>T (p.Pro458Ser)
c.1624C>T (p.Pro542Ser)
c.1273C>T (p.Pro425Ser)
 gnomAD v4
1g.155291909G>CCA342751326PKLRc.1465C>G (p.Pro489Ala)
c.1372C>G (p.Pro458Ala)
c.1624C>G (p.Pro542Ala)
c.1273C>G (p.Pro425Ala)
1g.155291909G>TCA342751328PKLRc.1465C>A (p.Pro489Thr)
c.1372C>A (p.Pro458Thr)
c.1624C>A (p.Pro542Thr)
c.1273C>A (p.Pro425Thr)
1g.155291910T>ACA421020225PKLRc.1464A>T (p.Arg488=)
c.1371A>T (p.Arg457=)
c.1623A>T (p.Arg541=)
c.1272A>T (p.Arg424=)
1g.155291910T>CCA421020226PKLRc.1464A>G (p.Arg488=)
c.1371A>G (p.Arg457=)
c.1623A>G (p.Arg541=)
c.1272A>G (p.Arg424=)
1g.155291910T>GCA421020227PKLRc.1464A>C (p.Arg488=)
c.1371A>C (p.Arg457=)
c.1623A>C (p.Arg541=)
c.1272A>C (p.Arg424=)
1g.155291911C>ACA342751330PKLRc.1463G>T (p.Arg488Leu)
c.1370G>T (p.Arg457Leu)
c.1622G>T (p.Arg541Leu)
c.1271G>T (p.Arg424Leu)
1g.155291911C=CA1143647237PKLRc.1463G= (p.Arg488=)
c.1370G= (p.Arg457=)
c.1622G= (p.Arg541=)
c.1271G= (p.Arg424=)
1g.155291911C>GCA342751332PKLRc.1463G>C (p.Arg488Pro)
c.1370G>C (p.Arg457Pro)
c.1622G>C (p.Arg541Pro)
c.1271G>C (p.Arg424Pro)
1g.155291911C>TCA1143990PKLRc.1463G>A (p.Arg488Gln)
c.1370G>A (p.Arg457Gln)
c.1622G>A (p.Arg541Gln)
c.1271G>A (p.Arg424Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155291912G>ACA30900356PKLRc.1462C>T (p.Arg488Ter)
c.1369C>T (p.Arg457Ter)
c.1621C>T (p.Arg541Ter)
c.1270C>T (p.Arg424Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155291912G>CCA342751336PKLRc.1462C>G (p.Arg488Gly)
c.1369C>G (p.Arg457Gly)
c.1621C>G (p.Arg541Gly)
c.1270C>G (p.Arg424Gly)
1g.155291912G=CA2481225435PKLRc.1462C= (p.Arg488=)
c.1369C= (p.Arg457=)
c.1621C= (p.Arg541=)
c.1270C= (p.Arg424=)
1g.155291912G>TCA421020231PKLRc.1462C>A (p.Arg488=)
c.1369C>A (p.Arg457=)
c.1621C>A (p.Arg541=)
c.1270C>A (p.Arg424=)
1g.155291913G>ACA421020232PKLRc.1461C>T (p.Tyr487=)
c.1368C>T (p.Tyr456=)
c.1620C>T (p.Tyr540=)
c.1269C>T (p.Tyr423=)
1g.155291913G>CCA342751339PKLRc.1461C>G (p.Tyr487Ter)
c.1368C>G (p.Tyr456Ter)
c.1620C>G (p.Tyr540Ter)
c.1269C>G (p.Tyr423Ter)
1g.155291913G>TCA342751341PKLRc.1461C>A (p.Tyr487Ter)
c.1368C>A (p.Tyr456Ter)
c.1620C>A (p.Tyr540Ter)
c.1269C>A (p.Tyr423Ter)
1g.155291914delCA2746210388PKLRc.1460del (p.Tyr487SerfsTer?)
c.1367del (p.Tyr456SerfsTer?)
c.1619del (p.Tyr540SerfsTer?)
c.1268del (p.Tyr423SerfsTer?)
1g.155291914T>ACA342751343PKLRc.1460A>T (p.Tyr487Phe)
c.1367A>T (p.Tyr456Phe)
c.1619A>T (p.Tyr540Phe)
c.1268A>T (p.Tyr423Phe)
1g.155291914T>CCA342751345PKLRc.1460A>G (p.Tyr487Cys)
c.1367A>G (p.Tyr456Cys)
c.1619A>G (p.Tyr540Cys)
c.1268A>G (p.Tyr423Cys)
1g.155291914T>GCA342751347PKLRc.1460A>C (p.Tyr487Ser)
c.1367A>C (p.Tyr456Ser)
c.1619A>C (p.Tyr540Ser)
c.1268A>C (p.Tyr423Ser)
1g.155291915A>CCA342751350PKLRc.1459T>G (p.Tyr487Asp)
c.1366T>G (p.Tyr456Asp)
c.1618T>G (p.Tyr540Asp)
c.1267T>G (p.Tyr423Asp)
1g.155291915A>GCA342751352PKLRc.1459T>C (p.Tyr487His)
c.1366T>C (p.Tyr456His)
c.1618T>C (p.Tyr540His)
c.1267T>C (p.Tyr423His)
1g.155291915A>TCA342751353PKLRc.1459T>A (p.Tyr487Asn)
c.1366T>A (p.Tyr456Asn)
c.1618T>A (p.Tyr540Asn)
c.1267T>A (p.Tyr423Asn)
1g.155291916C>ACA30900367PKLRc.1458G>T (p.Arg486=)
c.1365G>T (p.Arg455=)
c.1617G>T (p.Arg539=)
c.1266G>T (p.Arg422=)
 dbSNP gnomAD v3 gnomAD v4
1g.155291916C=CA2481225436PKLRc.1458G= (p.Arg486=)
c.1365G= (p.Arg455=)
c.1617G= (p.Arg539=)
c.1266G= (p.Arg422=)
1g.155291916C>GCA421020237PKLRc.1458G>C (p.Arg486=)
c.1365G>C (p.Arg455=)
c.1617G>C (p.Arg539=)
c.1266G>C (p.Arg422=)
1g.155291916C>TCA421020236PKLRc.1458G>A (p.Arg486=)
c.1365G>A (p.Arg455=)
c.1617G>A (p.Arg539=)
c.1266G>A (p.Arg422=)
 dbSNP gnomAD v2
1g.155291917C>ACA342751356PKLRc.1457G>T (p.Arg486Leu)
c.1364G>T (p.Arg455Leu)
c.1616G>T (p.Arg539Leu)
c.1265G>T (p.Arg422Leu)
1g.155291917C=CA2481225437PKLRc.1457G= (p.Arg486=)
c.1364G= (p.Arg455=)
c.1616G= (p.Arg539=)
c.1265G= (p.Arg422=)
1g.155291917C>GCA342751358PKLRc.1457G>C (p.Arg486Pro)
c.1364G>C (p.Arg455Pro)
c.1616G>C (p.Arg539Pro)
c.1265G>C (p.Arg422Pro)
1g.155291917C>TCA1143991PKLRc.1457G>A (p.Arg486Gln)
c.1364G>A (p.Arg455Gln)
c.1616G>A (p.Arg539Gln)
c.1265G>A (p.Arg422Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.155291918G>ACA215080PKLRc.1456C>T (p.Arg486Trp)
c.1363C>T (p.Arg455Trp)
c.1615C>T (p.Arg539Trp)
c.1264C>T (p.Arg422Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155291918G>CCA342751361PKLRc.1456C>G (p.Arg486Gly)
c.1363C>G (p.Arg455Gly)
c.1615C>G (p.Arg539Gly)
c.1264C>G (p.Arg422Gly)
1g.155291918G=CA1141509128PKLRc.1456C= (p.Arg486=)
c.1363C= (p.Arg455=)
c.1615C= (p.Arg539=)
c.1264C= (p.Arg422=)
1g.155291918G>TCA421020239PKLRc.1456C>A (p.Arg486=)
c.1363C>A (p.Arg455=)
c.1615C>A (p.Arg539=)
c.1264C>A (p.Arg422=)
1g.155291919A>CCA421020242PKLRc.1455T>G (p.Ser485=)
c.1362T>G (p.Ser454=)
c.1614T>G (p.Ser538=)
c.1263T>G (p.Ser421=)
1g.155291919A>GCA421020241PKLRc.1455T>C (p.Ser485=)
c.1362T>C (p.Ser454=)
c.1614T>C (p.Ser538=)
c.1263T>C (p.Ser421=)
1g.155291919A>TCA421020240PKLRc.1455T>A (p.Ser485=)
c.1362T>A (p.Ser454=)
c.1614T>A (p.Ser538=)
c.1263T>A (p.Ser421=)
1g.155291920G>ACA342751365PKLRc.1454C>T (p.Ser485Phe)
c.1361C>T (p.Ser454Phe)
c.1613C>T (p.Ser538Phe)
c.1262C>T (p.Ser421Phe)
1g.155291920G>CCA342751367PKLRc.1454C>G (p.Ser485Cys)
c.1361C>G (p.Ser454Cys)
c.1613C>G (p.Ser538Cys)
c.1262C>G (p.Ser421Cys)
1g.155291920G>TCA342751363PKLRc.1454C>A (p.Ser485Tyr)
c.1361C>A (p.Ser454Tyr)
c.1613C>A (p.Ser538Tyr)
c.1262C>A (p.Ser421Tyr)
1g.155291921A>CCA342751371PKLRc.1453T>G (p.Ser485Ala)
c.1360T>G (p.Ser454Ala)
c.1612T>G (p.Ser538Ala)
c.1261T>G (p.Ser421Ala)
1g.155291921A>GCA342751370PKLRc.1453T>C (p.Ser485Pro)
c.1360T>C (p.Ser454Pro)
c.1612T>C (p.Ser538Pro)
c.1261T>C (p.Ser421Pro)
1g.155291921A>TCA342751373PKLRc.1453T>A (p.Ser485Thr)
c.1360T>A (p.Ser454Thr)
c.1612T>A (p.Ser538Thr)
c.1261T>A (p.Ser421Thr)
1g.155291922C>ACA421020244PKLRc.1452G>T (p.Leu484=)
c.1359G>T (p.Leu453=)
c.1611G>T (p.Leu537=)
c.1260G>T (p.Leu420=)
1g.155291922C>GCA421020246PKLRc.1452G>C (p.Leu484=)
c.1359G>C (p.Leu453=)
c.1611G>C (p.Leu537=)
c.1260G>C (p.Leu420=)
1g.155291922C>TCA421020245PKLRc.1452G>A (p.Leu484=)
c.1359G>A (p.Leu453=)
c.1611G>A (p.Leu537=)
c.1260G>A (p.Leu420=)
1g.155291923A>CCA342751375PKLRc.1451T>G (p.Leu484Arg)
c.1358T>G (p.Leu453Arg)
c.1610T>G (p.Leu537Arg)
c.1259T>G (p.Leu420Arg)
1g.155291923A>GCA342751378PKLRc.1451T>C (p.Leu484Pro)
c.1358T>C (p.Leu453Pro)
c.1610T>C (p.Leu537Pro)
c.1259T>C (p.Leu420Pro)
1g.155291923A>TCA342751380PKLRc.1451T>A (p.Leu484Gln)
c.1358T>A (p.Leu453Gln)
c.1610T>A (p.Leu537Gln)
c.1259T>A (p.Leu420Gln)
1g.155291924G>ACA421020248PKLRc.1450C>T (p.Leu484=)
c.1357C>T (p.Leu453=)
c.1609C>T (p.Leu537=)
c.1258C>T (p.Leu420=)
1g.155291924G>CCA342751381PKLRc.1450C>G (p.Leu484Val)
c.1357C>G (p.Leu453Val)
c.1609C>G (p.Leu537Val)
c.1258C>G (p.Leu420Val)
1g.155291924G>TCA342751383PKLRc.1450C>A (p.Leu484Met)
c.1357C>A (p.Leu453Met)
c.1609C>A (p.Leu537Met)
c.1258C>A (p.Leu420Met)
1g.155291925A=CA2481225438PKLRc.1449T= (p.Leu483=)
c.1356T= (p.Leu452=)
c.1608T= (p.Leu536=)
c.1257T= (p.Leu419=)
1g.155291925A>CCA1143992PKLRc.1449T>G (p.Leu483=)
c.1356T>G (p.Leu452=)
c.1608T>G (p.Leu536=)
c.1257T>G (p.Leu419=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155291925A>GCA421020249PKLRc.1449T>C (p.Leu483=)
c.1356T>C (p.Leu452=)
c.1608T>C (p.Leu536=)
c.1257T>C (p.Leu419=)
1g.155291925A>TCA421020250PKLRc.1449T>A (p.Leu483=)
c.1356T>A (p.Leu452=)
c.1608T>A (p.Leu536=)
c.1257T>A (p.Leu419=)
1g.155291926A>CCA342751386PKLRc.1448T>G (p.Leu483Arg)
c.1355T>G (p.Leu452Arg)
c.1607T>G (p.Leu536Arg)
c.1256T>G (p.Leu419Arg)
1g.155291926A>GCA342751387PKLRc.1448T>C (p.Leu483Pro)
c.1355T>C (p.Leu452Pro)
c.1607T>C (p.Leu536Pro)
c.1256T>C (p.Leu419Pro)
1g.155291926A>TCA342751388PKLRc.1448T>A (p.Leu483His)
c.1355T>A (p.Leu452His)
c.1607T>A (p.Leu536His)
c.1256T>A (p.Leu419His)
1g.155291927G>ACA342751389PKLRc.1447C>T (p.Leu483Phe)
c.1354C>T (p.Leu452Phe)
c.1606C>T (p.Leu536Phe)
c.1255C>T (p.Leu419Phe)
 dbSNP gnomAD v2 gnomAD v4
1g.155291927G>CCA342751390PKLRc.1447C>G (p.Leu483Val)
c.1354C>G (p.Leu452Val)
c.1606C>G (p.Leu536Val)
c.1255C>G (p.Leu419Val)
1g.155291927G=CA2481225439PKLRc.1447C= (p.Leu483=)
c.1354C= (p.Leu452=)
c.1606C= (p.Leu536=)
c.1255C= (p.Leu419=)
1g.155291927G>TCA342751391PKLRc.1447C>A (p.Leu483Ile)
c.1354C>A (p.Leu452Ile)
c.1606C>A (p.Leu536Ile)
c.1255C>A (p.Leu419Ile)
1g.155291928C>ACA342751393PKLRc.1446G>T (p.Gln482His)
c.1353G>T (p.Gln451His)
c.1605G>T (p.Gln535His)
c.1254G>T (p.Gln418His)
1g.155291928C=CA2481225440PKLRc.1446G= (p.Gln482=)
c.1353G= (p.Gln451=)
c.1605G= (p.Gln535=)
c.1254G= (p.Gln418=)
1g.155291928C>GCA342751392PKLRc.1446G>C (p.Gln482His)
c.1353G>C (p.Gln451His)
c.1605G>C (p.Gln535His)
c.1254G>C (p.Gln418His)
1g.155291928C>TCA1143993PKLRc.1446G>A (p.Gln482=)
c.1353G>A (p.Gln451=)
c.1605G>A (p.Gln535=)
c.1254G>A (p.Gln418=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155291929T>ACA342751394PKLRc.1445A>T (p.Gln482Leu)
c.1352A>T (p.Gln451Leu)
c.1604A>T (p.Gln535Leu)
c.1253A>T (p.Gln418Leu)
1g.155291929T>CCA342751395PKLRc.1445A>G (p.Gln482Arg)
c.1352A>G (p.Gln451Arg)
c.1604A>G (p.Gln535Arg)
c.1253A>G (p.Gln418Arg)
 gnomAD v4
1g.155291929T>GCA342751396PKLRc.1445A>C (p.Gln482Pro)
c.1352A>C (p.Gln451Pro)
c.1604A>C (p.Gln535Pro)
c.1253A>C (p.Gln418Pro)
1g.155291930G>ACA342751397PKLRc.1444C>T (p.Gln482Ter)
c.1351C>T (p.Gln451Ter)
c.1603C>T (p.Gln535Ter)
c.1252C>T (p.Gln418Ter)
 COSMIC
1g.155291930G>CCA342751398PKLRc.1444C>G (p.Gln482Glu)
c.1351C>G (p.Gln451Glu)
c.1603C>G (p.Gln535Glu)
c.1252C>G (p.Gln418Glu)
1g.155291930G>TCA342751399PKLRc.1444C>A (p.Gln482Lys)
c.1351C>A (p.Gln451Lys)
c.1603C>A (p.Gln535Lys)
c.1252C>A (p.Gln418Lys)
1g.155291931G>ACA421020254PKLRc.1443C>T (p.Ala481=)
c.1350C>T (p.Ala450=)
c.1602C>T (p.Ala534=)
c.1251C>T (p.Ala417=)
1g.155291931G>CCA421020255PKLRc.1443C>G (p.Ala481=)
c.1350C>G (p.Ala450=)
c.1602C>G (p.Ala534=)
c.1251C>G (p.Ala417=)
1g.155291931G>TCA421020256PKLRc.1443C>A (p.Ala481=)
c.1350C>A (p.Ala450=)
c.1602C>A (p.Ala534=)
c.1251C>A (p.Ala417=)
1g.155291932G>ACA1143994PKLRc.1442C>T (p.Ala481Val)
c.1349C>T (p.Ala450Val)
c.1601C>T (p.Ala534Val)
c.1250C>T (p.Ala417Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155291932G>CCA342751400PKLRc.1442C>G (p.Ala481Gly)
c.1349C>G (p.Ala450Gly)
c.1601C>G (p.Ala534Gly)
c.1250C>G (p.Ala417Gly)
1g.155291932G=CA2481225441PKLRc.1442C= (p.Ala481=)
c.1349C= (p.Ala450=)
c.1601C= (p.Ala534=)
c.1250C= (p.Ala417=)
1g.155291932G>TCA30900403PKLRc.1442C>A (p.Ala481Asp)
c.1349C>A (p.Ala450Asp)
c.1601C>A (p.Ala534Asp)
c.1250C>A (p.Ala417Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.155291933C>ACA342751401PKLRc.1441G>T (p.Ala481Ser)
c.1348G>T (p.Ala450Ser)
c.1600G>T (p.Ala534Ser)
c.1249G>T (p.Ala417Ser)
1g.155291933C>GCA342751402PKLRc.1441G>C (p.Ala481Pro)
c.1348G>C (p.Ala450Pro)
c.1600G>C (p.Ala534Pro)
c.1249G>C (p.Ala417Pro)
1g.155291933C>TCA342751403PKLRc.1441G>A (p.Ala481Thr)
c.1348G>A (p.Ala450Thr)
c.1600G>A (p.Ala534Thr)
c.1249G>A (p.Ala417Thr)
1g.155291934T>ACA421020258PKLRc.1440A>T (p.Ser480=)
c.1347A>T (p.Ser449=)
c.1599A>T (p.Ser533=)
c.1248A>T (p.Ser416=)
1g.155291934T>CCA421020259PKLRc.1440A>G (p.Ser480=)
c.1347A>G (p.Ser449=)
c.1599A>G (p.Ser533=)
c.1248A>G (p.Ser416=)
1g.155291934T>GCA421020260PKLRc.1440A>C (p.Ser480=)
c.1347A>C (p.Ser449=)
c.1599A>C (p.Ser533=)
c.1248A>C (p.Ser416=)
1g.155291935G>ACA342751406PKLRc.1439C>T (p.Ser480Leu)
c.1346C>T (p.Ser449Leu)
c.1598C>T (p.Ser533Leu)
c.1247C>T (p.Ser416Leu)
1g.155291935G>CCA342751405PKLRc.1439C>G (p.Ser480Ter)
c.1346C>G (p.Ser449Ter)
c.1598C>G (p.Ser533Ter)
c.1247C>G (p.Ser416Ter)
1g.155291935G>TCA342751404PKLRc.1439C>A (p.Ser480Ter)
c.1346C>A (p.Ser449Ter)
c.1598C>A (p.Ser533Ter)
c.1247C>A (p.Ser416Ter)
1g.155291936A>CCA342751407PKLRc.1438T>G (p.Ser480Ala)
c.1345T>G (p.Ser449Ala)
c.1597T>G (p.Ser533Ala)
c.1246T>G (p.Ser416Ala)
1g.155291936A>GCA342751408PKLRc.1438T>C (p.Ser480Pro)
c.1345T>C (p.Ser449Pro)
c.1597T>C (p.Ser533Pro)
c.1246T>C (p.Ser416Pro)
1g.155291936A>TCA342751409PKLRc.1438T>A (p.Ser480Thr)
c.1345T>A (p.Ser449Thr)
c.1597T>A (p.Ser533Thr)
c.1246T>A (p.Ser416Thr)
1g.155291937G>ACA421020262PKLRc.1437C>T (p.Arg479=)
c.1344C>T (p.Arg448=)
c.1596C>T (p.Arg532=)
c.1245C>T (p.Arg415=)
1g.155291937G>CCA421020264PKLRc.1437C>G (p.Arg479=)
c.1344C>G (p.Arg448=)
c.1596C>G (p.Arg532=)
c.1245C>G (p.Arg415=)
1g.155291937G>TCA421020263PKLRc.1437C>A (p.Arg479=)
c.1344C>A (p.Arg448=)
c.1596C>A (p.Arg532=)
c.1245C>A (p.Arg415=)
1g.155291938C>ACA342751410PKLRc.1437-1G>T (n.1437-1G>T)
c.1344-1G>T (n.1344-1G>T)
c.1596-1G>T (n.1596-1G>T)
c.1245-1G>T (n.1245-1G>T)
1g.155291938C>GCA342751411PKLRc.1437-1G>C (n.1437-1G>C)
c.1344-1G>C (n.1344-1G>C)
c.1596-1G>C (n.1596-1G>C)
c.1245-1G>C (n.1245-1G>C)
1g.155291938C>TCA342751412PKLRc.1437-1G>A (n.1437-1G>A)
c.1344-1G>A (n.1344-1G>A)
c.1596-1G>A (n.1596-1G>A)
c.1245-1G>A (n.1245-1G>A)
1g.155291939T>ACA342751413PKLRc.1437-2A>T (n.1437-2A>T)
c.1344-2A>T (n.1344-2A>T)
c.1596-2A>T (n.1596-2A>T)
c.1245-2A>T (n.1245-2A>T)
1g.155291939T>CCA342751414PKLRc.1437-2A>G (n.1437-2A>G)
c.1344-2A>G (n.1344-2A>G)
c.1596-2A>G (n.1596-2A>G)
c.1245-2A>G (n.1245-2A>G)
1g.155291939T>GCA342751415PKLRc.1437-2A>C (n.1437-2A>C)
c.1344-2A>C (n.1344-2A>C)
c.1596-2A>C (n.1596-2A>C)
c.1245-2A>C (n.1245-2A>C)
1g.155291940G>ACA2573568252PKLRc.1437-3C>T (n.1437-3C>T)
c.1344-3C>T (n.1344-3C>T)
c.1596-3C>T (n.1596-3C>T)
c.1245-3C>T (n.1245-3C>T)
1g.155291941G>ACA2531559495PKLRc.1437-4C>T (n.1437-4C>T)
c.1344-4C>T (n.1344-4C>T)
c.1596-4C>T (n.1596-4C>T)
c.1245-4C>T (n.1245-4C>T)
1g.155291941G=CA2481225442PKLRc.1437-4C= (n.1437-4C=)
c.1344-4C= (n.1344-4C=)
c.1596-4C= (n.1596-4C=)
c.1245-4C= (n.1245-4C=)
1g.155291941G>TCA526668890PKLRc.1437-4C>A (n.1437-4C>A)
c.1344-4C>A (n.1344-4C>A)
c.1596-4C>A (n.1596-4C>A)
c.1245-4C>A (n.1245-4C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155291942A=CA2481225443PKLRc.1437-5T= (n.1437-5T=)
c.1344-5T= (n.1344-5T=)
c.1596-5T= (n.1596-5T=)
c.1245-5T= (n.1245-5T=)
1g.155291942A>TCA30900413PKLRc.1437-5T>A (n.1437-5T>A)
c.1344-5T>A (n.1344-5T>A)
c.1596-5T>A (n.1596-5T>A)
c.1245-5T>A (n.1245-5T>A)
 dbSNP
1g.155291943G>ACA1143995PKLRc.1437-6C>T (n.1437-6C>T)
c.1344-6C>T (n.1344-6C>T)
c.1596-6C>T (n.1596-6C>T)
c.1245-6C>T (n.1245-6C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155291943G=CA2481225444PKLRc.1437-6C= (n.1437-6C=)
c.1344-6C= (n.1344-6C=)
c.1596-6C= (n.1596-6C=)
c.1245-6C= (n.1245-6C=)
1g.155291944G>ACA30900418PKLRc.1437-7C>T (n.1437-7C>T)
c.1344-7C>T (n.1344-7C>T)
c.1596-7C>T (n.1596-7C>T)
c.1245-7C>T (n.1245-7C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155291944G=CA2481225445PKLRc.1437-7C= (n.1437-7C=)
c.1344-7C= (n.1344-7C=)
c.1596-7C= (n.1596-7C=)
c.1245-7C= (n.1245-7C=)
1g.155291946G>ACA1143996PKLRc.1437-9C>T (n.1437-9C>T)
c.1344-9C>T (n.1344-9C>T)
c.1596-9C>T (n.1596-9C>T)
c.1245-9C>T (n.1245-9C>T)
 dbSNP ExAC
1g.155291946G>CCA2648267915PKLRc.1437-9C>G (n.1437-9C>G)
c.1344-9C>G (n.1344-9C>G)
c.1596-9C>G (n.1596-9C>G)
c.1245-9C>G (n.1245-9C>G)
 gnomAD v4
1g.155291946G=CA2481225446PKLRc.1437-9C= (n.1437-9C=)
c.1344-9C= (n.1344-9C=)
c.1596-9C= (n.1596-9C=)
c.1245-9C= (n.1245-9C=)
1g.155291947G>ACA526668891PKLRc.1437-10C>T (n.1437-10C>T)
c.1344-10C>T (n.1344-10C>T)
c.1596-10C>T (n.1596-10C>T)
c.1245-10C>T (n.1245-10C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155291947G=CA2481225447PKLRc.1437-10C= (n.1437-10C=)
c.1344-10C= (n.1344-10C=)
c.1596-10C= (n.1596-10C=)
c.1245-10C= (n.1245-10C=)
1g.155291948delCA2532265136PKLRc.1437-11del (n.1437-11del)
c.1344-11del (n.1344-11del)
c.1596-11del (n.1596-11del)
c.1245-11del (n.1245-11del)
1g.155291948C>ACA889656185PKLRc.1437-11G>T (n.1437-11G>T)
c.1344-11G>T (n.1344-11G>T)
c.1596-11G>T (n.1596-11G>T)
c.1245-11G>T (n.1245-11G>T)
 dbSNP
1g.155291948C=CA2481225448PKLRc.1437-11G= (n.1437-11G=)
c.1344-11G= (n.1344-11G=)
c.1596-11G= (n.1596-11G=)
c.1245-11G= (n.1245-11G=)
1g.155291950G>ACA2648267916PKLRc.1437-13C>T (n.1437-13C>T)
c.1344-13C>T (n.1344-13C>T)
c.1596-13C>T (n.1596-13C>T)
c.1245-13C>T (n.1245-13C>T)
 gnomAD v4
1g.155291951A>GCA2648267917PKLRc.1437-14T>C (n.1437-14T>C)
c.1344-14T>C (n.1344-14T>C)
c.1596-14T>C (n.1596-14T>C)
c.1245-14T>C (n.1245-14T>C)
 gnomAD v4
1g.155291953A=CA2481225449PKLRc.1437-16T= (n.1437-16T=)
c.1344-16T= (n.1344-16T=)
c.1596-16T= (n.1596-16T=)
c.1245-16T= (n.1245-16T=)
1g.155291953A>GCA526668892PKLRc.1437-16T>C (n.1437-16T>C)
c.1344-16T>C (n.1344-16T>C)
c.1596-16T>C (n.1596-16T>C)
c.1245-16T>C (n.1245-16T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.155291955G>CCA1143997PKLRc.1437-18C>G (n.1437-18C>G)
c.1344-18C>G (n.1344-18C>G)
c.1596-18C>G (n.1596-18C>G)
c.1245-18C>G (n.1245-18C>G)
 dbSNP ExAC
1g.155291955G=CA1143812973PKLRc.1437-18C= (n.1437-18C=)
c.1344-18C= (n.1344-18C=)
c.1596-18C= (n.1596-18C=)
c.1245-18C= (n.1245-18C=)
1g.155291956G=CA2481225450PKLRc.1437-19C= (n.1437-19C=)
c.1344-19C= (n.1344-19C=)
c.1596-19C= (n.1596-19C=)
c.1245-19C= (n.1245-19C=)
1g.155291956G>TCA1143998PKLRc.1437-19C>A (n.1437-19C>A)
c.1344-19C>A (n.1344-19C>A)
c.1596-19C>A (n.1596-19C>A)
c.1245-19C>A (n.1245-19C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155291957T>CCA2697498230PKLRc.1437-20A>G (n.1437-20A>G)
c.1344-20A>G (n.1344-20A>G)
c.1596-20A>G (n.1596-20A>G)
c.1245-20A>G (n.1245-20A>G)
 dbSNP
1g.155291958C>GCA2573568254PKLRc.1437-21G>C (n.1437-21G>C)
c.1344-21G>C (n.1344-21G>C)
c.1596-21G>C (n.1596-21G>C)
c.1245-21G>C (n.1245-21G>C)
1g.155291959A=CA1144035423PKLRc.1437-22T= (n.1437-22T=)
c.1344-22T= (n.1344-22T=)
c.1596-22T= (n.1596-22T=)
c.1245-22T= (n.1245-22T=)
1g.155291959A>GCA2648267923PKLRc.1437-22T>C (n.1437-22T>C)
c.1344-22T>C (n.1344-22T>C)
c.1596-22T>C (n.1596-22T>C)
c.1245-22T>C (n.1245-22T>C)
 dbSNP gnomAD v4
1g.155291959A>TCA1143999PKLRc.1437-22T>A (n.1437-22T>A)
c.1344-22T>A (n.1344-22T>A)
c.1596-22T>A (n.1596-22T>A)
c.1245-22T>A (n.1245-22T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155291960G=CA2481225451PKLRc.1437-23C= (n.1437-23C=)
c.1344-23C= (n.1344-23C=)
c.1596-23C= (n.1596-23C=)
c.1245-23C= (n.1245-23C=)
1g.155291960G>TCA2481225452PKLRc.1437-23C>A (n.1437-23C>A)
c.1344-23C>A (n.1344-23C>A)
c.1596-23C>A (n.1596-23C>A)
c.1245-23C>A (n.1245-23C>A)
 dbSNP
1g.155291961C>TCA2648267932PKLRc.1437-24G>A (n.1437-24G>A)
c.1344-24G>A (n.1344-24G>A)
c.1596-24G>A (n.1596-24G>A)
c.1245-24G>A (n.1245-24G>A)
 gnomAD v4

Number of alleles fetched