Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.86030200G>ACA347545240POLR1Ac.4775C>T (p.Ala1592Val)
c.4592C>T (p.Ala1531Val)
c.4451C>T (p.Ala1484Val)
2g.86030200G>CCA347545241POLR1Ac.4775C>G (p.Ala1592Gly)
c.4592C>G (p.Ala1531Gly)
c.4451C>G (p.Ala1484Gly)
2g.86030200G>TCA347545242POLR1Ac.4775C>A (p.Ala1592Glu)
c.4592C>A (p.Ala1531Glu)
c.4451C>A (p.Ala1484Glu)
2g.86030201C>ACA347545243POLR1Ac.4774G>T (p.Ala1592Ser)
c.4591G>T (p.Ala1531Ser)
c.4450G>T (p.Ala1484Ser)
2g.86030201C=CA1267041284POLR1Ac.4774G= (p.Ala1592=)
c.4591G= (p.Ala1531=)
c.4450G= (p.Ala1484=)
2g.86030201C>GCA347545244POLR1Ac.4774G>C (p.Ala1592Pro)
c.4591G>C (p.Ala1531Pro)
c.4450G>C (p.Ala1484Pro)
2g.86030201C>TCA1745412POLR1Ac.4774G>A (p.Ala1592Thr)
c.4591G>A (p.Ala1531Thr)
c.4450G>A (p.Ala1484Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.86030202A>CCA347545245POLR1Ac.4773T>G (p.Tyr1591Ter)
c.4590T>G (p.Tyr1530Ter)
c.4449T>G (p.Tyr1483Ter)
2g.86030202A>GCA427146886POLR1Ac.4773T>C (p.Tyr1591=)
c.4590T>C (p.Tyr1530=)
c.4449T>C (p.Tyr1483=)
2g.86030202A>TCA347545246POLR1Ac.4773T>A (p.Tyr1591Ter)
c.4590T>A (p.Tyr1530Ter)
c.4449T>A (p.Tyr1483Ter)
2g.86030203T>ACA347545247POLR1Ac.4772A>T (p.Tyr1591Phe)
c.4589A>T (p.Tyr1530Phe)
c.4448A>T (p.Tyr1483Phe)
2g.86030203T>CCA347545248POLR1Ac.4772A>G (p.Tyr1591Cys)
c.4589A>G (p.Tyr1530Cys)
c.4448A>G (p.Tyr1483Cys)
2g.86030203T>GCA347545249POLR1Ac.4772A>C (p.Tyr1591Ser)
c.4589A>C (p.Tyr1530Ser)
c.4448A>C (p.Tyr1483Ser)
2g.86030204A>CCA347545250POLR1Ac.4771T>G (p.Tyr1591Asp)
c.4588T>G (p.Tyr1530Asp)
c.4447T>G (p.Tyr1483Asp)
2g.86030204A>GCA347545251POLR1Ac.4771T>C (p.Tyr1591His)
c.4588T>C (p.Tyr1530His)
c.4447T>C (p.Tyr1483His)
2g.86030204A>TCA347545252POLR1Ac.4771T>A (p.Tyr1591Asn)
c.4588T>A (p.Tyr1530Asn)
c.4447T>A (p.Tyr1483Asn)
2g.86030205C>ACA347545253POLR1Ac.4770G>T (p.Lys1590Asn)
c.4587G>T (p.Lys1529Asn)
c.4446G>T (p.Lys1482Asn)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.86030205C=CA1267041285POLR1Ac.4770G= (p.Lys1590=)
c.4587G= (p.Lys1529=)
c.4446G= (p.Lys1482=)
2g.86030205C>GCA347545254POLR1Ac.4770G>C (p.Lys1590Asn)
c.4587G>C (p.Lys1529Asn)
c.4446G>C (p.Lys1482Asn)
 gnomAD v4
2g.86030205C>TCA427146887POLR1Ac.4770G>A (p.Lys1590=)
c.4587G>A (p.Lys1529=)
c.4446G>A (p.Lys1482=)
2g.86030206T>ACA347545256POLR1Ac.4769A>T (p.Lys1590Met)
c.4586A>T (p.Lys1529Met)
c.4445A>T (p.Lys1482Met)
2g.86030206T>CCA347545257POLR1Ac.4769A>G (p.Lys1590Arg)
c.4586A>G (p.Lys1529Arg)
c.4445A>G (p.Lys1482Arg)
2g.86030206T>GCA347545258POLR1Ac.4769A>C (p.Lys1590Thr)
c.4586A>C (p.Lys1529Thr)
c.4445A>C (p.Lys1482Thr)
2g.86030207T>ACA347545259POLR1Ac.4768A>T (p.Lys1590Ter)
c.4585A>T (p.Lys1529Ter)
c.4444A>T (p.Lys1482Ter)
2g.86030207T>CCA347545260POLR1Ac.4768A>G (p.Lys1590Glu)
c.4585A>G (p.Lys1529Glu)
c.4444A>G (p.Lys1482Glu)
2g.86030207T>GCA1745413POLR1Ac.4768A>C (p.Lys1590Gln)
c.4585A>C (p.Lys1529Gln)
c.4444A>C (p.Lys1482Gln)
 dbSNP ExAC gnomAD v2
2g.86030207T=CA1267041286POLR1Ac.4768A= (p.Lys1590=)
c.4585A= (p.Lys1529=)
c.4444A= (p.Lys1482=)
2g.86030208G>ACA427146888POLR1Ac.4767C>T (p.Phe1589=)
c.4584C>T (p.Phe1528=)
c.4443C>T (p.Phe1481=)
2g.86030208G>CCA347545261POLR1Ac.4767C>G (p.Phe1589Leu)
c.4584C>G (p.Phe1528Leu)
c.4443C>G (p.Phe1481Leu)
 gnomAD v4
2g.86030208G>TCA347545262POLR1Ac.4767C>A (p.Phe1589Leu)
c.4584C>A (p.Phe1528Leu)
c.4443C>A (p.Phe1481Leu)
2g.86030209A>CCA347545263POLR1Ac.4766T>G (p.Phe1589Cys)
c.4583T>G (p.Phe1528Cys)
c.4442T>G (p.Phe1481Cys)
2g.86030209A>GCA347545264POLR1Ac.4766T>C (p.Phe1589Ser)
c.4583T>C (p.Phe1528Ser)
c.4442T>C (p.Phe1481Ser)
2g.86030209A>TCA347545265POLR1Ac.4766T>A (p.Phe1589Tyr)
c.4583T>A (p.Phe1528Tyr)
c.4442T>A (p.Phe1481Tyr)
2g.86030210A>CCA347545266POLR1Ac.4765T>G (p.Phe1589Val)
c.4582T>G (p.Phe1528Val)
c.4441T>G (p.Phe1481Val)
2g.86030210A>GCA347545267POLR1Ac.4765T>C (p.Phe1589Leu)
c.4582T>C (p.Phe1528Leu)
c.4441T>C (p.Phe1481Leu)
2g.86030210A>TCA347545268POLR1Ac.4765T>A (p.Phe1589Ile)
c.4582T>A (p.Phe1528Ile)
c.4441T>A (p.Phe1481Ile)
2g.86030211T>ACA427146988POLR1Ac.4764A>T (p.Leu1588=)
c.4581A>T (p.Leu1527=)
c.4440A>T (p.Leu1480=)
2g.86030211T>CCA1745414POLR1Ac.4764A>G (p.Leu1588=)
c.4581A>G (p.Leu1527=)
c.4440A>G (p.Leu1480=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030211T>GCA427146987POLR1Ac.4764A>C (p.Leu1588=)
c.4581A>C (p.Leu1527=)
c.4440A>C (p.Leu1480=)
2g.86030211T=CA1267041287POLR1Ac.4764A= (p.Leu1588=)
c.4581A= (p.Leu1527=)
c.4440A= (p.Leu1480=)
2g.86030212A>CCA347545269POLR1Ac.4763T>G (p.Leu1588Arg)
c.4580T>G (p.Leu1527Arg)
c.4439T>G (p.Leu1480Arg)
2g.86030212A>GCA347545270POLR1Ac.4763T>C (p.Leu1588Pro)
c.4580T>C (p.Leu1527Pro)
c.4439T>C (p.Leu1480Pro)
2g.86030212A>TCA347545271POLR1Ac.4763T>A (p.Leu1588Gln)
c.4580T>A (p.Leu1527Gln)
c.4439T>A (p.Leu1480Gln)
2g.86030213G>ACA427146989POLR1Ac.4762C>T (p.Leu1588=)
c.4579C>T (p.Leu1527=)
c.4438C>T (p.Leu1480=)
2g.86030213G>CCA347545272POLR1Ac.4762C>G (p.Leu1588Val)
c.4579C>G (p.Leu1527Val)
c.4438C>G (p.Leu1480Val)
2g.86030213G>TCA347545273POLR1Ac.4762C>A (p.Leu1588Ile)
c.4579C>A (p.Leu1527Ile)
c.4438C>A (p.Leu1480Ile)
2g.86030214C>ACA1745415POLR1Ac.4761G>T (p.Glu1587Asp)
c.4578G>T (p.Glu1526Asp)
c.4437G>T (p.Glu1479Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030214C=CA1267041288POLR1Ac.4761G= (p.Glu1587=)
c.4578G= (p.Glu1526=)
c.4437G= (p.Glu1479=)
2g.86030214C>GCA347545274POLR1Ac.4761G>C (p.Glu1587Asp)
c.4578G>C (p.Glu1526Asp)
c.4437G>C (p.Glu1479Asp)
2g.86030214C>TCA427146990POLR1Ac.4761G>A (p.Glu1587=)
c.4578G>A (p.Glu1526=)
c.4437G>A (p.Glu1479=)
2g.86030215T>ACA347545275POLR1Ac.4760A>T (p.Glu1587Val)
c.4577A>T (p.Glu1526Val)
c.4436A>T (p.Glu1479Val)
2g.86030215T>CCA347545277POLR1Ac.4760A>G (p.Glu1587Gly)
c.4577A>G (p.Glu1526Gly)
c.4436A>G (p.Glu1479Gly)
2g.86030215T>GCA347545276POLR1Ac.4760A>C (p.Glu1587Ala)
c.4577A>C (p.Glu1526Ala)
c.4436A>C (p.Glu1479Ala)
2g.86030216C>ACA347545278POLR1Ac.4759G>T (p.Glu1587Ter)
c.4576G>T (p.Glu1526Ter)
c.4435G>T (p.Glu1479Ter)
2g.86030216C>GCA347545280POLR1Ac.4759G>C (p.Glu1587Gln)
c.4576G>C (p.Glu1526Gln)
c.4435G>C (p.Glu1479Gln)
 gnomAD v4
2g.86030216C>TCA347545279POLR1Ac.4759G>A (p.Glu1587Lys)
c.4576G>A (p.Glu1526Lys)
c.4435G>A (p.Glu1479Lys)
2g.86030217T>ACA427146992POLR1Ac.4758A>T (p.Pro1586=)
c.4575A>T (p.Pro1525=)
c.4434A>T (p.Pro1478=)
2g.86030217T>CCA427146993POLR1Ac.4758A>G (p.Pro1586=)
c.4575A>G (p.Pro1525=)
c.4434A>G (p.Pro1478=)
 gnomAD v4
2g.86030217T>GCA427146994POLR1Ac.4758A>C (p.Pro1586=)
c.4575A>C (p.Pro1525=)
c.4434A>C (p.Pro1478=)
2g.86030218G>ACA347545281POLR1Ac.4757C>T (p.Pro1586Leu)
c.4574C>T (p.Pro1525Leu)
c.4433C>T (p.Pro1478Leu)
 gnomAD v4
2g.86030218G>CCA347545282POLR1Ac.4757C>G (p.Pro1586Arg)
c.4574C>G (p.Pro1525Arg)
c.4433C>G (p.Pro1478Arg)
2g.86030218G>TCA347545283POLR1Ac.4757C>A (p.Pro1586Gln)
c.4574C>A (p.Pro1525Gln)
c.4433C>A (p.Pro1478Gln)
2g.86030219G>ACA1745416POLR1Ac.4756C>T (p.Pro1586Ser)
c.4573C>T (p.Pro1525Ser)
c.4432C>T (p.Pro1478Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030219G>CCA347545284POLR1Ac.4756C>G (p.Pro1586Ala)
c.4573C>G (p.Pro1525Ala)
c.4432C>G (p.Pro1478Ala)
2g.86030219G=CA1267041289POLR1Ac.4756C= (p.Pro1586=)
c.4573C= (p.Pro1525=)
c.4432C= (p.Pro1478=)
2g.86030219G>TCA347545285POLR1Ac.4756C>A (p.Pro1586Thr)
c.4573C>A (p.Pro1525Thr)
c.4432C>A (p.Pro1478Thr)
2g.86030220G>ACA427146998POLR1Ac.4755C>T (p.Leu1585=)
c.4572C>T (p.Leu1524=)
c.4431C>T (p.Leu1477=)
2g.86030220G>CCA427146999POLR1Ac.4755C>G (p.Leu1585=)
c.4572C>G (p.Leu1524=)
c.4431C>G (p.Leu1477=)
2g.86030220G>TCA427147002POLR1Ac.4755C>A (p.Leu1585=)
c.4572C>A (p.Leu1524=)
c.4431C>A (p.Leu1477=)
 gnomAD v4
2g.86030221A>CCA347545288POLR1Ac.4754T>G (p.Leu1585Arg)
c.4571T>G (p.Leu1524Arg)
c.4430T>G (p.Leu1477Arg)
2g.86030221A>GCA347545286POLR1Ac.4754T>C (p.Leu1585Pro)
c.4571T>C (p.Leu1524Pro)
c.4430T>C (p.Leu1477Pro)
2g.86030221A>TCA347545287POLR1Ac.4754T>A (p.Leu1585His)
c.4571T>A (p.Leu1524His)
c.4430T>A (p.Leu1477His)
2g.86030222G>ACA347545289POLR1Ac.4753C>T (p.Leu1585Phe)
c.4570C>T (p.Leu1524Phe)
c.4429C>T (p.Leu1477Phe)
2g.86030222G>CCA1745417POLR1Ac.4753C>G (p.Leu1585Val)
c.4570C>G (p.Leu1524Val)
c.4429C>G (p.Leu1477Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030222G=CA1267041290POLR1Ac.4753C= (p.Leu1585=)
c.4570C= (p.Leu1524=)
c.4429C= (p.Leu1477=)
2g.86030222G>TCA347545290POLR1Ac.4753C>A (p.Leu1585Ile)
c.4570C>A (p.Leu1524Ile)
c.4429C>A (p.Leu1477Ile)
2g.86030223G>ACA427147007POLR1Ac.4752C>T (p.Asn1584=)
c.4569C>T (p.Asn1523=)
c.4428C>T (p.Asn1476=)
 dbSNP
2g.86030223G>CCA347545291POLR1Ac.4752C>G (p.Asn1584Lys)
c.4569C>G (p.Asn1523Lys)
c.4428C>G (p.Asn1476Lys)
 dbSNP
2g.86030223G=CA1267041291POLR1Ac.4752C= (p.Asn1584=)
c.4569C= (p.Asn1523=)
c.4428C= (p.Asn1476=)
2g.86030223G>TCA347545292POLR1Ac.4752C>A (p.Asn1584Lys)
c.4569C>A (p.Asn1523Lys)
c.4428C>A (p.Asn1476Lys)
 gnomAD v4
2g.86030224T>ACA347545295POLR1Ac.4751A>T (p.Asn1584Ile)
c.4568A>T (p.Asn1523Ile)
c.4427A>T (p.Asn1476Ile)
2g.86030224T>CCA347545293POLR1Ac.4751A>G (p.Asn1584Ser)
c.4568A>G (p.Asn1523Ser)
c.4427A>G (p.Asn1476Ser)
 gnomAD v4
2g.86030224T>GCA347545294POLR1Ac.4751A>C (p.Asn1584Thr)
c.4568A>C (p.Asn1523Thr)
c.4427A>C (p.Asn1476Thr)
2g.86030225T>ACA347545296POLR1Ac.4750A>T (p.Asn1584Tyr)
c.4567A>T (p.Asn1523Tyr)
c.4426A>T (p.Asn1476Tyr)
2g.86030225T>CCA347545297POLR1Ac.4750A>G (p.Asn1584Asp)
c.4567A>G (p.Asn1523Asp)
c.4426A>G (p.Asn1476Asp)
2g.86030225T>GCA347545298POLR1Ac.4750A>C (p.Asn1584His)
c.4567A>C (p.Asn1523His)
c.4426A>C (p.Asn1476His)
2g.86030226G>ACA427147012POLR1Ac.4749C>T (p.Ile1583=)
c.4566C>T (p.Ile1522=)
c.4425C>T (p.Ile1475=)
2g.86030226G>CCA347545299POLR1Ac.4749C>G (p.Ile1583Met)
c.4566C>G (p.Ile1522Met)
c.4425C>G (p.Ile1475Met)
2g.86030226G>TCA427147010POLR1Ac.4749C>A (p.Ile1583=)
c.4566C>A (p.Ile1522=)
c.4425C>A (p.Ile1475=)
2g.86030227A>CCA347545300POLR1Ac.4748T>G (p.Ile1583Ser)
c.4565T>G (p.Ile1522Ser)
c.4424T>G (p.Ile1475Ser)
2g.86030227A>GCA347545301POLR1Ac.4748T>C (p.Ile1583Thr)
c.4565T>C (p.Ile1522Thr)
c.4424T>C (p.Ile1475Thr)
2g.86030227A>TCA347545302POLR1Ac.4748T>A (p.Ile1583Asn)
c.4565T>A (p.Ile1522Asn)
c.4424T>A (p.Ile1475Asn)
2g.86030228T>ACA347545303POLR1Ac.4747A>T (p.Ile1583Phe)
c.4564A>T (p.Ile1522Phe)
c.4423A>T (p.Ile1475Phe)
 ClinVar
2g.86030228T>CCA347545304POLR1Ac.4747A>G (p.Ile1583Val)
c.4564A>G (p.Ile1522Val)
c.4423A>G (p.Ile1475Val)
 gnomAD v4
2g.86030228T>GCA347545305POLR1Ac.4747A>C (p.Ile1583Leu)
c.4564A>C (p.Ile1522Leu)
c.4423A>C (p.Ile1475Leu)
2g.86030229T>ACA427147013POLR1Ac.4746A>T (p.Gly1582=)
c.4563A>T (p.Gly1521=)
c.4422A>T (p.Gly1474=)
2g.86030229T>CCA427147014POLR1Ac.4746A>G (p.Gly1582=)
c.4563A>G (p.Gly1521=)
c.4422A>G (p.Gly1474=)
2g.86030229T>GCA427147015POLR1Ac.4746A>C (p.Gly1582=)
c.4563A>C (p.Gly1521=)
c.4422A>C (p.Gly1474=)
2g.86030230C>ACA347545306POLR1Ac.4745G>T (p.Gly1582Val)
c.4562G>T (p.Gly1521Val)
c.4421G>T (p.Gly1474Val)
2g.86030230C>GCA347545307POLR1Ac.4745G>C (p.Gly1582Ala)
c.4562G>C (p.Gly1521Ala)
c.4421G>C (p.Gly1474Ala)
2g.86030230C>TCA347545308POLR1Ac.4745G>A (p.Gly1582Glu)
c.4562G>A (p.Gly1521Glu)
c.4421G>A (p.Gly1474Glu)
2g.86030231C>ACA347545309POLR1Ac.4744G>T (p.Gly1582Ter)
c.4561G>T (p.Gly1521Ter)
c.4420G>T (p.Gly1474Ter)
2g.86030231C>GCA347545311POLR1Ac.4744G>C (p.Gly1582Arg)
c.4561G>C (p.Gly1521Arg)
c.4420G>C (p.Gly1474Arg)
2g.86030231C>TCA347545310POLR1Ac.4744G>A (p.Gly1582Arg)
c.4561G>A (p.Gly1521Arg)
c.4420G>A (p.Gly1474Arg)
2g.86030232T>ACA347545312POLR1Ac.4743A>T (p.Glu1581Asp)
c.4560A>T (p.Glu1520Asp)
c.4419A>T (p.Glu1473Asp)
2g.86030232T>CCA427147017POLR1Ac.4743A>G (p.Glu1581=)
c.4560A>G (p.Glu1520=)
c.4419A>G (p.Glu1473=)
 ClinVar dbSNP gnomAD v4
2g.86030232T>GCA347545313POLR1Ac.4743A>C (p.Glu1581Asp)
c.4560A>C (p.Glu1520Asp)
c.4419A>C (p.Glu1473Asp)
2g.86030232T=CA1267041292POLR1Ac.4743A= (p.Glu1581=)
c.4560A= (p.Glu1520=)
c.4419A= (p.Glu1473=)
2g.86030233T>ACA347545314POLR1Ac.4742A>T (p.Glu1581Val)
c.4559A>T (p.Glu1520Val)
c.4418A>T (p.Glu1473Val)
2g.86030233T>CCA347545315POLR1Ac.4742A>G (p.Glu1581Gly)
c.4559A>G (p.Glu1520Gly)
c.4418A>G (p.Glu1473Gly)
2g.86030233T>GCA347545316POLR1Ac.4742A>C (p.Glu1581Ala)
c.4559A>C (p.Glu1520Ala)
c.4418A>C (p.Glu1473Ala)
2g.86030234C>ACA347545317POLR1Ac.4741G>T (p.Glu1581Ter)
c.4558G>T (p.Glu1520Ter)
c.4417G>T (p.Glu1473Ter)
2g.86030234C>GCA347545318POLR1Ac.4741G>C (p.Glu1581Gln)
c.4558G>C (p.Glu1520Gln)
c.4417G>C (p.Glu1473Gln)
2g.86030234C>TCA347545319POLR1Ac.4741G>A (p.Glu1581Lys)
c.4558G>A (p.Glu1520Lys)
c.4417G>A (p.Glu1473Lys)
2g.86030235T>ACA427147019POLR1Ac.4740A>T (p.Thr1580=)
c.4557A>T (p.Thr1519=)
c.4416A>T (p.Thr1472=)
2g.86030235T>CCA427147020POLR1Ac.4740A>G (p.Thr1580=)
c.4557A>G (p.Thr1519=)
c.4416A>G (p.Thr1472=)
2g.86030235T>GCA427147021POLR1Ac.4740A>C (p.Thr1580=)
c.4557A>C (p.Thr1519=)
c.4416A>C (p.Thr1472=)
2g.86030236G>ACA347545320POLR1Ac.4739C>T (p.Thr1580Ile)
c.4556C>T (p.Thr1519Ile)
c.4415C>T (p.Thr1472Ile)
2g.86030236G>CCA347545321POLR1Ac.4739C>G (p.Thr1580Arg)
c.4556C>G (p.Thr1519Arg)
c.4415C>G (p.Thr1472Arg)
2g.86030236G>TCA347545322POLR1Ac.4739C>A (p.Thr1580Lys)
c.4556C>A (p.Thr1519Lys)
c.4415C>A (p.Thr1472Lys)
2g.86030237T>ACA347545323POLR1Ac.4738A>T (p.Thr1580Ser)
c.4555A>T (p.Thr1519Ser)
c.4414A>T (p.Thr1472Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.86030237T>CCA347545324POLR1Ac.4738A>G (p.Thr1580Ala)
c.4555A>G (p.Thr1519Ala)
c.4414A>G (p.Thr1472Ala)
2g.86030237T>GCA347545325POLR1Ac.4738A>C (p.Thr1580Pro)
c.4555A>C (p.Thr1519Pro)
c.4414A>C (p.Thr1472Pro)
2g.86030237T=CA1267041293POLR1Ac.4738A= (p.Thr1580=)
c.4555A= (p.Thr1519=)
c.4414A= (p.Thr1472=)
2g.86030238G>ACA427147023POLR1Ac.4737C>T (p.Asn1579=)
c.4554C>T (p.Asn1518=)
c.4413C>T (p.Asn1471=)
2g.86030238G>CCA347545326POLR1Ac.4737C>G (p.Asn1579Lys)
c.4554C>G (p.Asn1518Lys)
c.4413C>G (p.Asn1471Lys)
2g.86030238G>TCA347545327POLR1Ac.4737C>A (p.Asn1579Lys)
c.4554C>A (p.Asn1518Lys)
c.4413C>A (p.Asn1471Lys)
 gnomAD v4
2g.86030239T>ACA347545328POLR1Ac.4736A>T (p.Asn1579Ile)
c.4553A>T (p.Asn1518Ile)
c.4412A>T (p.Asn1471Ile)
2g.86030239T>CCA347545329POLR1Ac.4736A>G (p.Asn1579Ser)
c.4553A>G (p.Asn1518Ser)
c.4412A>G (p.Asn1471Ser)
2g.86030239T>GCA347545330POLR1Ac.4736A>C (p.Asn1579Thr)
c.4553A>C (p.Asn1518Thr)
c.4412A>C (p.Asn1471Thr)
2g.86030240T>ACA347545331POLR1Ac.4735A>T (p.Asn1579Tyr)
c.4552A>T (p.Asn1518Tyr)
c.4411A>T (p.Asn1471Tyr)
2g.86030240T>CCA347545332POLR1Ac.4735A>G (p.Asn1579Asp)
c.4552A>G (p.Asn1518Asp)
c.4411A>G (p.Asn1471Asp)
2g.86030240T>GCA347545333POLR1Ac.4735A>C (p.Asn1579His)
c.4552A>C (p.Asn1518His)
c.4411A>C (p.Asn1471His)
2g.86030241T>ACA427147027POLR1Ac.4734A>T (p.Leu1578=)
c.4551A>T (p.Leu1517=)
c.4410A>T (p.Leu1470=)
2g.86030241T>CCA427147026POLR1Ac.4734A>G (p.Leu1578=)
c.4551A>G (p.Leu1517=)
c.4410A>G (p.Leu1470=)
 dbSNP gnomAD v2 gnomAD v4
2g.86030241T>GCA427147025POLR1Ac.4734A>C (p.Leu1578=)
c.4551A>C (p.Leu1517=)
c.4410A>C (p.Leu1470=)
2g.86030241T=CA1267041294POLR1Ac.4734A= (p.Leu1578=)
c.4551A= (p.Leu1517=)
c.4410A= (p.Leu1470=)
2g.86030242A>CCA347545334POLR1Ac.4733T>G (p.Leu1578Arg)
c.4550T>G (p.Leu1517Arg)
c.4409T>G (p.Leu1470Arg)
2g.86030242A>GCA347545335POLR1Ac.4733T>C (p.Leu1578Pro)
c.4550T>C (p.Leu1517Pro)
c.4409T>C (p.Leu1470Pro)
2g.86030242A>TCA347545336POLR1Ac.4733T>A (p.Leu1578Gln)
c.4550T>A (p.Leu1517Gln)
c.4409T>A (p.Leu1470Gln)
2g.86030243G>ACA427147031POLR1Ac.4732C>T (p.Leu1578=)
c.4549C>T (p.Leu1517=)
c.4408C>T (p.Leu1470=)
2g.86030243G>CCA347545337POLR1Ac.4732C>G (p.Leu1578Val)
c.4549C>G (p.Leu1517Val)
c.4408C>G (p.Leu1470Val)
2g.86030243G>TCA347545338POLR1Ac.4732C>A (p.Leu1578Ile)
c.4549C>A (p.Leu1517Ile)
c.4408C>A (p.Leu1470Ile)
2g.86030244C>ACA427147033POLR1Ac.4731G>T (p.Val1577=)
c.4548G>T (p.Val1516=)
c.4407G>T (p.Val1469=)
2g.86030244C>GCA427147035POLR1Ac.4731G>C (p.Val1577=)
c.4548G>C (p.Val1516=)
c.4407G>C (p.Val1469=)
2g.86030244C>TCA427147036POLR1Ac.4731G>A (p.Val1577=)
c.4548G>A (p.Val1516=)
c.4407G>A (p.Val1469=)
2g.86030245A=CA1267041295POLR1Ac.4730T= (p.Val1577=)
c.4547T= (p.Val1516=)
c.4406T= (p.Val1469=)
2g.86030245A>CCA347545339POLR1Ac.4730T>G (p.Val1577Gly)
c.4547T>G (p.Val1516Gly)
c.4406T>G (p.Val1469Gly)
2g.86030245A>GCA347545341POLR1Ac.4730T>C (p.Val1577Ala)
c.4547T>C (p.Val1516Ala)
c.4406T>C (p.Val1469Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.86030245A>TCA347545340POLR1Ac.4730T>A (p.Val1577Glu)
c.4547T>A (p.Val1516Glu)
c.4406T>A (p.Val1469Glu)
2g.86030246C>ACA347545342POLR1Ac.4729G>T (p.Val1577Leu)
c.4546G>T (p.Val1516Leu)
c.4405G>T (p.Val1469Leu)
2g.86030246C>GCA347545344POLR1Ac.4729G>C (p.Val1577Leu)
c.4546G>C (p.Val1516Leu)
c.4405G>C (p.Val1469Leu)
2g.86030246C>TCA347545343POLR1Ac.4729G>A (p.Val1577Met)
c.4546G>A (p.Val1516Met)
c.4405G>A (p.Val1469Met)
2g.86030247A>CCA427147038POLR1Ac.4728T>G (p.Leu1576=)
c.4545T>G (p.Leu1515=)
c.4404T>G (p.Leu1468=)
2g.86030247A>GCA427147039POLR1Ac.4728T>C (p.Leu1576=)
c.4545T>C (p.Leu1515=)
c.4404T>C (p.Leu1468=)
2g.86030247A>TCA427147041POLR1Ac.4728T>A (p.Leu1576=)
c.4545T>A (p.Leu1515=)
c.4404T>A (p.Leu1468=)
2g.86030248A>CCA347545345POLR1Ac.4727T>G (p.Leu1576Arg)
c.4544T>G (p.Leu1515Arg)
c.4403T>G (p.Leu1468Arg)
2g.86030248A>GCA347545346POLR1Ac.4727T>C (p.Leu1576Pro)
c.4544T>C (p.Leu1515Pro)
c.4403T>C (p.Leu1468Pro)
2g.86030248A>TCA347545347POLR1Ac.4727T>A (p.Leu1576His)
c.4544T>A (p.Leu1515His)
c.4403T>A (p.Leu1468His)
2g.86030249G>ACA347545348POLR1Ac.4726C>T (p.Leu1576Phe)
c.4543C>T (p.Leu1515Phe)
c.4402C>T (p.Leu1468Phe)
 gnomAD v4
2g.86030249G>CCA347545349POLR1Ac.4726C>G (p.Leu1576Val)
c.4543C>G (p.Leu1515Val)
c.4402C>G (p.Leu1468Val)
2g.86030249G>TCA347545350POLR1Ac.4726C>A (p.Leu1576Ile)
c.4543C>A (p.Leu1515Ile)
c.4402C>A (p.Leu1468Ile)
2g.86030250C>ACA347545351POLR1Ac.4725G>T (p.Glu1575Asp)
c.4542G>T (p.Glu1514Asp)
c.4401G>T (p.Glu1467Asp)
2g.86030250C=CA1267041296POLR1Ac.4725G= (p.Glu1575=)
c.4542G= (p.Glu1514=)
c.4401G= (p.Glu1467=)
2g.86030250C>GCA347545352POLR1Ac.4725G>C (p.Glu1575Asp)
c.4542G>C (p.Glu1514Asp)
c.4401G>C (p.Glu1467Asp)
2g.86030250C>TCA51365700POLR1Ac.4725G>A (p.Glu1575=)
c.4542G>A (p.Glu1514=)
c.4401G>A (p.Glu1467=)
 dbSNP gnomAD v3 gnomAD v4
2g.86030251T>ACA347545353POLR1Ac.4724A>T (p.Glu1575Val)
c.4541A>T (p.Glu1514Val)
c.4400A>T (p.Glu1467Val)
2g.86030251T>CCA347545354POLR1Ac.4724A>G (p.Glu1575Gly)
c.4541A>G (p.Glu1514Gly)
c.4400A>G (p.Glu1467Gly)
2g.86030251T>GCA347545355POLR1Ac.4724A>C (p.Glu1575Ala)
c.4541A>C (p.Glu1514Ala)
c.4400A>C (p.Glu1467Ala)
2g.86030252C>ACA347545358POLR1Ac.4723G>T (p.Glu1575Ter)
c.4540G>T (p.Glu1514Ter)
c.4399G>T (p.Glu1467Ter)
2g.86030252C>GCA347545356POLR1Ac.4723G>C (p.Glu1575Gln)
c.4540G>C (p.Glu1514Gln)
c.4399G>C (p.Glu1467Gln)
2g.86030252C>TCA347545357POLR1Ac.4723G>A (p.Glu1575Lys)
c.4540G>A (p.Glu1514Lys)
c.4399G>A (p.Glu1467Lys)
2g.86030253C>ACA347545359POLR1Ac.4722G>T (p.Lys1574Asn)
c.4539G>T (p.Lys1513Asn)
c.4398G>T (p.Lys1466Asn)
2g.86030253C>GCA347545360POLR1Ac.4722G>C (p.Lys1574Asn)
c.4539G>C (p.Lys1513Asn)
c.4398G>C (p.Lys1466Asn)
2g.86030253C>TCA427147047POLR1Ac.4722G>A (p.Lys1574=)
c.4539G>A (p.Lys1513=)
c.4398G>A (p.Lys1466=)
2g.86030254T>ACA347545361POLR1Ac.4721A>T (p.Lys1574Met)
c.4538A>T (p.Lys1513Met)
c.4397A>T (p.Lys1466Met)
2g.86030254T>CCA347545362POLR1Ac.4721A>G (p.Lys1574Arg)
c.4538A>G (p.Lys1513Arg)
c.4397A>G (p.Lys1466Arg)
2g.86030254T>GCA347545363POLR1Ac.4721A>C (p.Lys1574Thr)
c.4538A>C (p.Lys1513Thr)
c.4397A>C (p.Lys1466Thr)
 gnomAD v4
2g.86030255T>ACA347545364POLR1Ac.4720A>T (p.Lys1574Ter)
c.4537A>T (p.Lys1513Ter)
c.4396A>T (p.Lys1466Ter)
2g.86030255T>CCA1745418POLR1Ac.4720A>G (p.Lys1574Glu)
c.4537A>G (p.Lys1513Glu)
c.4396A>G (p.Lys1466Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030255T>GCA347545365POLR1Ac.4720A>C (p.Lys1574Gln)
c.4537A>C (p.Lys1513Gln)
c.4396A>C (p.Lys1466Gln)
2g.86030255T=CA1267041297POLR1Ac.4720A= (p.Lys1574=)
c.4537A= (p.Lys1513=)
c.4396A= (p.Lys1466=)
2g.86030256C>ACA347545366POLR1Ac.4719G>T (p.Glu1573Asp)
c.4536G>T (p.Glu1512Asp)
c.4395G>T (p.Glu1465Asp)
2g.86030256C>GCA347545367POLR1Ac.4719G>C (p.Glu1573Asp)
c.4536G>C (p.Glu1512Asp)
c.4395G>C (p.Glu1465Asp)
2g.86030256C>TCA427147050POLR1Ac.4719G>A (p.Glu1573=)
c.4536G>A (p.Glu1512=)
c.4395G>A (p.Glu1465=)
2g.86030257T>ACA347545369POLR1Ac.4718A>T (p.Glu1573Val)
c.4535A>T (p.Glu1512Val)
c.4394A>T (p.Glu1465Val)
2g.86030257T>CCA347545370POLR1Ac.4718A>G (p.Glu1573Gly)
c.4535A>G (p.Glu1512Gly)
c.4394A>G (p.Glu1465Gly)
2g.86030257T>GCA347545368POLR1Ac.4718A>C (p.Glu1573Ala)
c.4535A>C (p.Glu1512Ala)
c.4394A>C (p.Glu1465Ala)
2g.86030258C>ACA347545371POLR1Ac.4717G>T (p.Glu1573Ter)
c.4534G>T (p.Glu1512Ter)
c.4393G>T (p.Glu1465Ter)
2g.86030258C=CA1267041298POLR1Ac.4717G= (p.Glu1573=)
c.4534G= (p.Glu1512=)
c.4393G= (p.Glu1465=)
2g.86030258C>GCA347545372POLR1Ac.4717G>C (p.Glu1573Gln)
c.4534G>C (p.Glu1512Gln)
c.4393G>C (p.Glu1465Gln)
2g.86030258C>TCA347545373POLR1Ac.4717G>A (p.Glu1573Lys)
c.4534G>A (p.Glu1512Lys)
c.4393G>A (p.Glu1465Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.86030259G>ACA1745419POLR1Ac.4716C>T (p.Asn1572=)
c.4533C>T (p.Asn1511=)
c.4392C>T (p.Asn1464=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.86030259G>CCA347545374POLR1Ac.4716C>G (p.Asn1572Lys)
c.4533C>G (p.Asn1511Lys)
c.4392C>G (p.Asn1464Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.86030259G=CA1267041299POLR1Ac.4716C= (p.Asn1572=)
c.4533C= (p.Asn1511=)
c.4392C= (p.Asn1464=)
2g.86030259G>TCA347545375POLR1Ac.4716C>A (p.Asn1572Lys)
c.4533C>A (p.Asn1511Lys)
c.4392C>A (p.Asn1464Lys)
2g.86030260T>ACA347545376POLR1Ac.4715A>T (p.Asn1572Ile)
c.4532A>T (p.Asn1511Ile)
c.4391A>T (p.Asn1464Ile)
2g.86030260T>CCA1745420POLR1Ac.4715A>G (p.Asn1572Ser)
c.4532A>G (p.Asn1511Ser)
c.4391A>G (p.Asn1464Ser)
 dbSNP ExAC gnomAD v4
2g.86030260T>GCA347545377POLR1Ac.4715A>C (p.Asn1572Thr)
c.4532A>C (p.Asn1511Thr)
c.4391A>C (p.Asn1464Thr)
2g.86030260T=CA1267041300POLR1Ac.4715A= (p.Asn1572=)
c.4532A= (p.Asn1511=)
c.4391A= (p.Asn1464=)
2g.86030261T>ACA347545378POLR1Ac.4714A>T (p.Asn1572Tyr)
c.4531A>T (p.Asn1511Tyr)
c.4390A>T (p.Asn1464Tyr)
2g.86030261T>CCA347545379POLR1Ac.4714A>G (p.Asn1572Asp)
c.4531A>G (p.Asn1511Asp)
c.4390A>G (p.Asn1464Asp)
2g.86030261T>GCA347545380POLR1Ac.4714A>C (p.Asn1572His)
c.4531A>C (p.Asn1511His)
c.4390A>C (p.Asn1464His)
2g.86030262C>ACA347545382POLR1Ac.4713G>T (p.Lys1571Asn)
c.4530G>T (p.Lys1510Asn)
c.4389G>T (p.Lys1463Asn)
2g.86030262C>GCA347545381POLR1Ac.4713G>C (p.Lys1571Asn)
c.4530G>C (p.Lys1510Asn)
c.4389G>C (p.Lys1463Asn)
2g.86030262C>TCA427147058POLR1Ac.4713G>A (p.Lys1571=)
c.4530G>A (p.Lys1510=)
c.4389G>A (p.Lys1463=)
 COSMIC
2g.86030263T>ACA347545383POLR1Ac.4712A>T (p.Lys1571Met)
c.4529A>T (p.Lys1510Met)
c.4388A>T (p.Lys1463Met)
2g.86030263T>CCA347545384POLR1Ac.4712A>G (p.Lys1571Arg)
c.4529A>G (p.Lys1510Arg)
c.4388A>G (p.Lys1463Arg)
2g.86030263T>GCA347545385POLR1Ac.4712A>C (p.Lys1571Thr)
c.4529A>C (p.Lys1510Thr)
c.4388A>C (p.Lys1463Thr)
2g.86030264T>ACA347545386POLR1Ac.4711A>T (p.Lys1571Ter)
c.4528A>T (p.Lys1510Ter)
c.4387A>T (p.Lys1463Ter)
2g.86030264T>CCA347545387POLR1Ac.4711A>G (p.Lys1571Glu)
c.4528A>G (p.Lys1510Glu)
c.4387A>G (p.Lys1463Glu)
2g.86030264T>GCA347545388POLR1Ac.4711A>C (p.Lys1571Gln)
c.4528A>C (p.Lys1510Gln)
c.4387A>C (p.Lys1463Gln)
2g.86030265A=CA1267041301POLR1Ac.4710T= (p.Asn1570=)
c.4527T= (p.Asn1509=)
c.4386T= (p.Asn1462=)
2g.86030265A>CCA347545389POLR1Ac.4710T>G (p.Asn1570Lys)
c.4527T>G (p.Asn1509Lys)
c.4386T>G (p.Asn1462Lys)
2g.86030265A>GCA427147060POLR1Ac.4710T>C (p.Asn1570=)
c.4527T>C (p.Asn1509=)
c.4386T>C (p.Asn1462=)
 dbSNP gnomAD v4
2g.86030265A>TCA347545390POLR1Ac.4710T>A (p.Asn1570Lys)
c.4527T>A (p.Asn1509Lys)
c.4386T>A (p.Asn1462Lys)
2g.86030266T>ACA347545391POLR1Ac.4709A>T (p.Asn1570Ile)
c.4526A>T (p.Asn1509Ile)
c.4385A>T (p.Asn1462Ile)
2g.86030266T>CCA347545392POLR1Ac.4709A>G (p.Asn1570Ser)
c.4526A>G (p.Asn1509Ser)
c.4385A>G (p.Asn1462Ser)
 dbSNP gnomAD v4
2g.86030266T>GCA347545393POLR1Ac.4709A>C (p.Asn1570Thr)
c.4526A>C (p.Asn1509Thr)
c.4385A>C (p.Asn1462Thr)
2g.86030266T=CA1267041302POLR1Ac.4709A= (p.Asn1570=)
c.4526A= (p.Asn1509=)
c.4385A= (p.Asn1462=)
2g.86030267T>ACA347545394POLR1Ac.4708A>T (p.Asn1570Tyr)
c.4525A>T (p.Asn1509Tyr)
c.4384A>T (p.Asn1462Tyr)
2g.86030267T>CCA347545395POLR1Ac.4708A>G (p.Asn1570Asp)
c.4525A>G (p.Asn1509Asp)
c.4384A>G (p.Asn1462Asp)
2g.86030267T>GCA51365709POLR1Ac.4708A>C (p.Asn1570His)
c.4525A>C (p.Asn1509His)
c.4384A>C (p.Asn1462His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.86030267T=CA1267041303POLR1Ac.4708A= (p.Asn1570=)
c.4525A= (p.Asn1509=)
c.4384A= (p.Asn1462=)
2g.86030268G>ACA427147065POLR1Ac.4707C>T (p.Asn1569=)
c.4524C>T (p.Asn1508=)
c.4383C>T (p.Asn1461=)
 ClinVar
2g.86030268G>CCA347545397POLR1Ac.4707C>G (p.Asn1569Lys)
c.4524C>G (p.Asn1508Lys)
c.4383C>G (p.Asn1461Lys)
2g.86030268G=CA1267041304POLR1Ac.4707C= (p.Asn1569=)
c.4524C= (p.Asn1508=)
c.4383C= (p.Asn1461=)
2g.86030268G>TCA347545396POLR1Ac.4707C>A (p.Asn1569Lys)
c.4524C>A (p.Asn1508Lys)
c.4383C>A (p.Asn1461Lys)
 dbSNP gnomAD v2
2g.86030269T>ACA347545398POLR1Ac.4706A>T (p.Asn1569Ile)
c.4523A>T (p.Asn1508Ile)
c.4382A>T (p.Asn1461Ile)
2g.86030269T>CCA1745421POLR1Ac.4706A>G (p.Asn1569Ser)
c.4523A>G (p.Asn1508Ser)
c.4382A>G (p.Asn1461Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030269T>GCA347545399POLR1Ac.4706A>C (p.Asn1569Thr)
c.4523A>C (p.Asn1508Thr)
c.4382A>C (p.Asn1461Thr)
2g.86030269T=CA1267041305POLR1Ac.4706A= (p.Asn1569=)
c.4523A= (p.Asn1508=)
c.4382A= (p.Asn1461=)
2g.86030270T>ACA347545400POLR1Ac.4705A>T (p.Asn1569Tyr)
c.4522A>T (p.Asn1508Tyr)
c.4381A>T (p.Asn1461Tyr)
2g.86030270T>CCA347545401POLR1Ac.4705A>G (p.Asn1569Asp)
c.4522A>G (p.Asn1508Asp)
c.4381A>G (p.Asn1461Asp)
2g.86030270T>GCA347545402POLR1Ac.4705A>C (p.Asn1569His)
c.4522A>C (p.Asn1508His)
c.4381A>C (p.Asn1461His)
2g.86030271G>ACA427147069POLR1Ac.4704C>T (p.Thr1568=)
c.4521C>T (p.Thr1507=)
c.4380C>T (p.Thr1460=)
2g.86030271G>CCA427147070POLR1Ac.4704C>G (p.Thr1568=)
c.4521C>G (p.Thr1507=)
c.4380C>G (p.Thr1460=)
2g.86030271G=CA1267041306POLR1Ac.4704C= (p.Thr1568=)
c.4521C= (p.Thr1507=)
c.4380C= (p.Thr1460=)
2g.86030271G>TCA427147071POLR1Ac.4704C>A (p.Thr1568=)
c.4521C>A (p.Thr1507=)
c.4380C>A (p.Thr1460=)
 dbSNP
2g.86030272G>ACA347545403POLR1Ac.4703C>T (p.Thr1568Ile)
c.4520C>T (p.Thr1507Ile)
c.4379C>T (p.Thr1460Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.86030272G>CCA347545404POLR1Ac.4703C>G (p.Thr1568Ser)
c.4520C>G (p.Thr1507Ser)
c.4379C>G (p.Thr1460Ser)
2g.86030272G=CA1267041307POLR1Ac.4703C= (p.Thr1568=)
c.4520C= (p.Thr1507=)
c.4379C= (p.Thr1460=)
2g.86030272G>TCA347545405POLR1Ac.4703C>A (p.Thr1568Asn)
c.4520C>A (p.Thr1507Asn)
c.4379C>A (p.Thr1460Asn)
 dbSNP
2g.86030273T>ACA347545406POLR1Ac.4702A>T (p.Thr1568Ser)
c.4519A>T (p.Thr1507Ser)
c.4378A>T (p.Thr1460Ser)
2g.86030273T>CCA347545407POLR1Ac.4702A>G (p.Thr1568Ala)
c.4519A>G (p.Thr1507Ala)
c.4378A>G (p.Thr1460Ala)
2g.86030273T>GCA347545408POLR1Ac.4702A>C (p.Thr1568Pro)
c.4519A>C (p.Thr1507Pro)
c.4378A>C (p.Thr1460Pro)
2g.86030274T>ACA427147075POLR1Ac.4701A>T (p.Thr1567=)
c.4518A>T (p.Thr1506=)
c.4377A>T (p.Thr1459=)
2g.86030274T>CCA427147076POLR1Ac.4701A>G (p.Thr1567=)
c.4518A>G (p.Thr1506=)
c.4377A>G (p.Thr1459=)
2g.86030274T>GCA427147078POLR1Ac.4701A>C (p.Thr1567=)
c.4518A>C (p.Thr1506=)
c.4377A>C (p.Thr1459=)
2g.86030275G>ACA51365711POLR1Ac.4700C>T (p.Thr1567Ile)
c.4517C>T (p.Thr1506Ile)
c.4376C>T (p.Thr1459Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.86030275G>CCA347545409POLR1Ac.4700C>G (p.Thr1567Arg)
c.4517C>G (p.Thr1506Arg)
c.4376C>G (p.Thr1459Arg)
2g.86030275G=CA1267041308POLR1Ac.4700C= (p.Thr1567=)
c.4517C= (p.Thr1506=)
c.4376C= (p.Thr1459=)
2g.86030275G>TCA347545410POLR1Ac.4700C>A (p.Thr1567Lys)
c.4517C>A (p.Thr1506Lys)
c.4376C>A (p.Thr1459Lys)
2g.86030276T>ACA347545412POLR1Ac.4699A>T (p.Thr1567Ser)
c.4516A>T (p.Thr1506Ser)
c.4375A>T (p.Thr1459Ser)
2g.86030276T>CCA1745422POLR1Ac.4699A>G (p.Thr1567Ala)
c.4516A>G (p.Thr1506Ala)
c.4375A>G (p.Thr1459Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030276T>GCA347545411POLR1Ac.4699A>C (p.Thr1567Pro)
c.4516A>C (p.Thr1506Pro)
c.4375A>C (p.Thr1459Pro)
2g.86030276T=CA1267041309POLR1Ac.4699A= (p.Thr1567=)
c.4516A= (p.Thr1506=)
c.4375A= (p.Thr1459=)
2g.86030277T>ACA347545413POLR1Ac.4698A>T (p.Glu1566Asp)
c.4515A>T (p.Glu1505Asp)
c.4374A>T (p.Glu1458Asp)
2g.86030277T>CCA427147082POLR1Ac.4698A>G (p.Glu1566=)
c.4515A>G (p.Glu1505=)
c.4374A>G (p.Glu1458=)
2g.86030277T>GCA347545414POLR1Ac.4698A>C (p.Glu1566Asp)
c.4515A>C (p.Glu1505Asp)
c.4374A>C (p.Glu1458Asp)
2g.86030278T>ACA347545415POLR1Ac.4697A>T (p.Glu1566Val)
c.4514A>T (p.Glu1505Val)
c.4373A>T (p.Glu1458Val)
2g.86030278T>CCA347545416POLR1Ac.4697A>G (p.Glu1566Gly)
c.4514A>G (p.Glu1505Gly)
c.4373A>G (p.Glu1458Gly)
2g.86030278T>GCA347545417POLR1Ac.4697A>C (p.Glu1566Ala)
c.4514A>C (p.Glu1505Ala)
c.4373A>C (p.Glu1458Ala)
 gnomAD v4
2g.86030279C>ACA347545418POLR1Ac.4696G>T (p.Glu1566Ter)
c.4513G>T (p.Glu1505Ter)
c.4372G>T (p.Glu1458Ter)
2g.86030279C>GCA347545419POLR1Ac.4696G>C (p.Glu1566Gln)
c.4513G>C (p.Glu1505Gln)
c.4372G>C (p.Glu1458Gln)
2g.86030279C>TCA347545420POLR1Ac.4696G>A (p.Glu1566Lys)
c.4513G>A (p.Glu1505Lys)
c.4372G>A (p.Glu1458Lys)
 COSMIC
2g.86030280A=CA1267041310POLR1Ac.4695T= (p.Asn1565=)
c.4512T= (p.Asn1504=)
c.4371T= (p.Asn1457=)
2g.86030280A>CCA1745423POLR1Ac.4695T>G (p.Asn1565Lys)
c.4512T>G (p.Asn1504Lys)
c.4371T>G (p.Asn1457Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030280A>GCA427147084POLR1Ac.4695T>C (p.Asn1565=)
c.4512T>C (p.Asn1504=)
c.4371T>C (p.Asn1457=)
2g.86030280A>TCA347545421POLR1Ac.4695T>A (p.Asn1565Lys)
c.4512T>A (p.Asn1504Lys)
c.4371T>A (p.Asn1457Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.86030281T>ACA347545422POLR1Ac.4694A>T (p.Asn1565Ile)
c.4511A>T (p.Asn1504Ile)
c.4370A>T (p.Asn1457Ile)
2g.86030281T>CCA347545423POLR1Ac.4694A>G (p.Asn1565Ser)
c.4511A>G (p.Asn1504Ser)
c.4370A>G (p.Asn1457Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.86030281T>GCA347545424POLR1Ac.4694A>C (p.Asn1565Thr)
c.4511A>C (p.Asn1504Thr)
c.4370A>C (p.Asn1457Thr)
2g.86030281T=CA1267041311POLR1Ac.4694A= (p.Asn1565=)
c.4511A= (p.Asn1504=)
c.4370A= (p.Asn1457=)
2g.86030282T>ACA347545426POLR1Ac.4693A>T (p.Asn1565Tyr)
c.4510A>T (p.Asn1504Tyr)
c.4369A>T (p.Asn1457Tyr)
2g.86030282T>CCA347545427POLR1Ac.4693A>G (p.Asn1565Asp)
c.4510A>G (p.Asn1504Asp)
c.4369A>G (p.Asn1457Asp)
2g.86030282T>GCA347545425POLR1Ac.4693A>C (p.Asn1565His)
c.4510A>C (p.Asn1504His)
c.4369A>C (p.Asn1457His)
2g.86030283C>ACA1745424POLR1Ac.4692G>T (p.Leu1564=)
c.4509G>T (p.Leu1503=)
c.4368G>T (p.Leu1456=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030283C=CA1267041312POLR1Ac.4692G= (p.Leu1564=)
c.4509G= (p.Leu1503=)
c.4368G= (p.Leu1456=)
2g.86030283C>GCA427147088POLR1Ac.4692G>C (p.Leu1564=)
c.4509G>C (p.Leu1503=)
c.4368G>C (p.Leu1456=)
2g.86030283C>TCA427147089POLR1Ac.4692G>A (p.Leu1564=)
c.4509G>A (p.Leu1503=)
c.4368G>A (p.Leu1456=)
 gnomAD v4
2g.86030284A>CCA347545428POLR1Ac.4691T>G (p.Leu1564Arg)
c.4508T>G (p.Leu1503Arg)
c.4367T>G (p.Leu1456Arg)
2g.86030284A>GCA347545429POLR1Ac.4691T>C (p.Leu1564Pro)
c.4508T>C (p.Leu1503Pro)
c.4367T>C (p.Leu1456Pro)
2g.86030284A>TCA347545430POLR1Ac.4691T>A (p.Leu1564Gln)
c.4508T>A (p.Leu1503Gln)
c.4367T>A (p.Leu1456Gln)
2g.86030285G>ACA427147091POLR1Ac.4690C>T (p.Leu1564=)
c.4507C>T (p.Leu1503=)
c.4366C>T (p.Leu1456=)
 dbSNP gnomAD v2 gnomAD v4
2g.86030285G>CCA347545431POLR1Ac.4690C>G (p.Leu1564Val)
c.4507C>G (p.Leu1503Val)
c.4366C>G (p.Leu1456Val)
2g.86030285G=CA1267041313POLR1Ac.4690C= (p.Leu1564=)
c.4507C= (p.Leu1503=)
c.4366C= (p.Leu1456=)
2g.86030285G>TCA347545432POLR1Ac.4690C>A (p.Leu1564Met)
c.4507C>A (p.Leu1503Met)
c.4366C>A (p.Leu1456Met)
2g.86030286G>ACA1745425POLR1Ac.4689C>T (p.Leu1563=)
c.4506C>T (p.Leu1502=)
c.4365C>T (p.Leu1455=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.86030286G>CCA427147092POLR1Ac.4689C>G (p.Leu1563=)
c.4506C>G (p.Leu1502=)
c.4365C>G (p.Leu1455=)
2g.86030286G=CA1267041314POLR1Ac.4689C= (p.Leu1563=)
c.4506C= (p.Leu1502=)
c.4365C= (p.Leu1455=)
2g.86030286G>TCA427147093POLR1Ac.4689C>A (p.Leu1563=)
c.4506C>A (p.Leu1502=)
c.4365C>A (p.Leu1455=)
2g.86030287A>CCA347545433POLR1Ac.4688T>G (p.Leu1563Arg)
c.4505T>G (p.Leu1502Arg)
c.4364T>G (p.Leu1455Arg)
2g.86030287A>GCA347545434POLR1Ac.4688T>C (p.Leu1563Pro)
c.4505T>C (p.Leu1502Pro)
c.4364T>C (p.Leu1455Pro)
2g.86030287A>TCA347545435POLR1Ac.4688T>A (p.Leu1563His)
c.4505T>A (p.Leu1502His)
c.4364T>A (p.Leu1455His)
2g.86030288G>ACA347545436POLR1Ac.4687C>T (p.Leu1563Phe)
c.4504C>T (p.Leu1502Phe)
c.4363C>T (p.Leu1455Phe)
 gnomAD v4
2g.86030288G>CCA347545437POLR1Ac.4687C>G (p.Leu1563Val)
c.4504C>G (p.Leu1502Val)
c.4363C>G (p.Leu1455Val)
2g.86030288G>TCA347545438POLR1Ac.4687C>A (p.Leu1563Ile)
c.4504C>A (p.Leu1502Ile)
c.4363C>A (p.Leu1455Ile)
2g.86030289G>ACA427147096POLR1Ac.4686C>T (p.Cys1562=)
c.4503C>T (p.Cys1501=)
c.4362C>T (p.Cys1454=)
2g.86030289G>CCA347545439POLR1Ac.4686C>G (p.Cys1562Trp)
c.4503C>G (p.Cys1501Trp)
c.4362C>G (p.Cys1454Trp)
2g.86030289G>TCA347545440POLR1Ac.4686C>A (p.Cys1562Ter)
c.4503C>A (p.Cys1501Ter)
c.4362C>A (p.Cys1454Ter)
2g.86030290C>ACA16617768POLR1Ac.4685G>T (p.Cys1562Phe)
c.4502G>T (p.Cys1501Phe)
c.4361G>T (p.Cys1454Phe)
 ClinVar dbSNP
2g.86030290C=CA1267041315POLR1Ac.4685G= (p.Cys1562=)
c.4502G= (p.Cys1501=)
c.4361G= (p.Cys1454=)
2g.86030290C>GCA347545441POLR1Ac.4685G>C (p.Cys1562Ser)
c.4502G>C (p.Cys1501Ser)
c.4361G>C (p.Cys1454Ser)
2g.86030290C>TCA347545442POLR1Ac.4685G>A (p.Cys1562Tyr)
c.4502G>A (p.Cys1501Tyr)
c.4361G>A (p.Cys1454Tyr)
2g.86030291A>CCA347545443POLR1Ac.4684T>G (p.Cys1562Gly)
c.4501T>G (p.Cys1501Gly)
c.4360T>G (p.Cys1454Gly)
2g.86030291A>GCA347545444POLR1Ac.4684T>C (p.Cys1562Arg)
c.4501T>C (p.Cys1501Arg)
c.4360T>C (p.Cys1454Arg)
2g.86030291A>TCA347545445POLR1Ac.4684T>A (p.Cys1562Ser)
c.4501T>A (p.Cys1501Ser)
c.4360T>A (p.Cys1454Ser)
2g.86030292C>ACA427147098POLR1Ac.4683G>T (p.Arg1561=)
c.4500G>T (p.Arg1500=)
c.4359G>T (p.Arg1453=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.86030292C=CA1267041316POLR1Ac.4683G= (p.Arg1561=)
c.4500G= (p.Arg1500=)
c.4359G= (p.Arg1453=)
2g.86030292C>GCA427147100POLR1Ac.4683G>C (p.Arg1561=)
c.4500G>C (p.Arg1500=)
c.4359G>C (p.Arg1453=)
2g.86030292C>TCA427147102POLR1Ac.4683G>A (p.Arg1561=)
c.4500G>A (p.Arg1500=)
c.4359G>A (p.Arg1453=)
2g.86030293C>ACA347545446POLR1Ac.4682G>T (p.Arg1561Leu)
c.4499G>T (p.Arg1500Leu)
c.4358G>T (p.Arg1453Leu)
2g.86030293C=CA1267041317POLR1Ac.4682G= (p.Arg1561=)
c.4499G= (p.Arg1500=)
c.4358G= (p.Arg1453=)
2g.86030293C>GCA347545447POLR1Ac.4682G>C (p.Arg1561Pro)
c.4499G>C (p.Arg1500Pro)
c.4358G>C (p.Arg1453Pro)
2g.86030293C>TCA1745426POLR1Ac.4682G>A (p.Arg1561Gln)
c.4499G>A (p.Arg1500Gln)
c.4358G>A (p.Arg1453Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.86030294G>ACA1745427POLR1Ac.4681C>T (p.Arg1561Trp)
c.4498C>T (p.Arg1500Trp)
c.4357C>T (p.Arg1453Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.86030294G>CCA347545448POLR1Ac.4681C>G (p.Arg1561Gly)
c.4498C>G (p.Arg1500Gly)
c.4357C>G (p.Arg1453Gly)
 gnomAD v4
2g.86030294G=CA1267041318POLR1Ac.4681C= (p.Arg1561=)
c.4498C= (p.Arg1500=)
c.4357C= (p.Arg1453=)
2g.86030294G>TCA427147103POLR1Ac.4681C>A (p.Arg1561=)
c.4498C>A (p.Arg1500=)
c.4357C>A (p.Arg1453=)
2g.86030295A>CCA427147104POLR1Ac.4680T>G (p.Thr1560=)
c.4497T>G (p.Thr1499=)
c.4356T>G (p.Thr1452=)
2g.86030295A>GCA427147106POLR1Ac.4680T>C (p.Thr1560=)
c.4497T>C (p.Thr1499=)
c.4356T>C (p.Thr1452=)
 gnomAD v4
2g.86030295A>TCA427147109POLR1Ac.4680T>A (p.Thr1560=)
c.4497T>A (p.Thr1499=)
c.4356T>A (p.Thr1452=)
2g.86030296G>ACA1745428POLR1Ac.4679C>T (p.Thr1560Ile)
c.4496C>T (p.Thr1499Ile)
c.4355C>T (p.Thr1452Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030296G>CCA347545450POLR1Ac.4679C>G (p.Thr1560Ser)
c.4496C>G (p.Thr1499Ser)
c.4355C>G (p.Thr1452Ser)
2g.86030296G=CA1267041319POLR1Ac.4679C= (p.Thr1560=)
c.4496C= (p.Thr1499=)
c.4355C= (p.Thr1452=)
2g.86030296G>TCA347545449POLR1Ac.4679C>A (p.Thr1560Asn)
c.4496C>A (p.Thr1499Asn)
c.4355C>A (p.Thr1452Asn)
2g.86030297T>ACA347545452POLR1Ac.4678A>T (p.Thr1560Ser)
c.4495A>T (p.Thr1499Ser)
c.4354A>T (p.Thr1452Ser)
2g.86030297T>CCA1745429POLR1Ac.4678A>G (p.Thr1560Ala)
c.4495A>G (p.Thr1499Ala)
c.4354A>G (p.Thr1452Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.86030297T>GCA347545451POLR1Ac.4678A>C (p.Thr1560Pro)
c.4495A>C (p.Thr1499Pro)
c.4354A>C (p.Thr1452Pro)
2g.86030297T=CA1267041320POLR1Ac.4678A= (p.Thr1560=)
c.4495A= (p.Thr1499=)
c.4354A= (p.Thr1452=)
2g.86030298G>ACA427147114POLR1Ac.4677C>T (p.Ile1559=)
c.4494C>T (p.Ile1498=)
c.4353C>T (p.Ile1451=)
 dbSNP gnomAD v2 gnomAD v4
2g.86030298G>CCA347545453POLR1Ac.4677C>G (p.Ile1559Met)
c.4494C>G (p.Ile1498Met)
c.4353C>G (p.Ile1451Met)
2g.86030298G=CA1267041321POLR1Ac.4677C= (p.Ile1559=)
c.4494C= (p.Ile1498=)
c.4353C= (p.Ile1451=)
2g.86030298G>TCA427147111POLR1Ac.4677C>A (p.Ile1559=)
c.4494C>A (p.Ile1498=)
c.4353C>A (p.Ile1451=)
2g.86030299A>CCA347545454POLR1Ac.4676T>G (p.Ile1559Ser)
c.4493T>G (p.Ile1498Ser)
c.4352T>G (p.Ile1451Ser)
2g.86030299A>GCA347545455POLR1Ac.4676T>C (p.Ile1559Thr)
c.4493T>C (p.Ile1498Thr)
c.4352T>C (p.Ile1451Thr)
2g.86030299A>TCA347545456POLR1Ac.4676T>A (p.Ile1559Asn)
c.4493T>A (p.Ile1498Asn)
c.4352T>A (p.Ile1451Asn)
2g.86030300T>ACA347545457POLR1Ac.4675A>T (p.Ile1559Phe)
c.4492A>T (p.Ile1498Phe)
c.4351A>T (p.Ile1451Phe)
2g.86030300T>CCA347545458POLR1Ac.4675A>G (p.Ile1559Val)
c.4492A>G (p.Ile1498Val)
c.4351A>G (p.Ile1451Val)
2g.86030300T>GCA347545459POLR1Ac.4675A>C (p.Ile1559Leu)
c.4492A>C (p.Ile1498Leu)
c.4351A>C (p.Ile1451Leu)

Number of alleles fetched