Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
2g.86030301G>ACA1745430POLR1Ac.4674C>T (p.Gly1558=)
c.4491C>T (p.Gly1497=)
c.4350C>T (p.Gly1450=)
 dbSNP ExAC gnomAD v2
2g.86030301G>CCA427147115POLR1Ac.4674C>G (p.Gly1558=)
c.4491C>G (p.Gly1497=)
c.4350C>G (p.Gly1450=)
2g.86030301G=CA1267041322POLR1Ac.4674C= (p.Gly1558=)
c.4491C= (p.Gly1497=)
c.4350C= (p.Gly1450=)
2g.86030301G>TCA427147117POLR1Ac.4674C>A (p.Gly1558=)
c.4491C>A (p.Gly1497=)
c.4350C>A (p.Gly1450=)
2g.86030302C>ACA347545460POLR1Ac.4673G>T (p.Gly1558Val)
c.4490G>T (p.Gly1497Val)
c.4349G>T (p.Gly1450Val)
2g.86030302C>GCA347545461POLR1Ac.4673G>C (p.Gly1558Ala)
c.4490G>C (p.Gly1497Ala)
c.4349G>C (p.Gly1450Ala)
2g.86030302C>TCA347545462POLR1Ac.4673G>A (p.Gly1558Asp)
c.4490G>A (p.Gly1497Asp)
c.4349G>A (p.Gly1450Asp)
2g.86030303C>ACA347545463POLR1Ac.4672G>T (p.Gly1558Cys)
c.4489G>T (p.Gly1497Cys)
c.4348G>T (p.Gly1450Cys)
2g.86030303C>GCA347545465POLR1Ac.4672G>C (p.Gly1558Arg)
c.4489G>C (p.Gly1497Arg)
c.4348G>C (p.Gly1450Arg)
2g.86030303C>TCA347545464POLR1Ac.4672G>A (p.Gly1558Ser)
c.4489G>A (p.Gly1497Ser)
c.4348G>A (p.Gly1450Ser)
 gnomAD v4
2g.86030304C>ACA347545466POLR1Ac.4671G>T (p.Lys1557Asn)
c.4488G>T (p.Lys1496Asn)
c.4347G>T (p.Lys1449Asn)
 COSMIC
2g.86030304C>GCA347545467POLR1Ac.4671G>C (p.Lys1557Asn)
c.4488G>C (p.Lys1496Asn)
c.4347G>C (p.Lys1449Asn)
2g.86030304C>TCA427147118POLR1Ac.4671G>A (p.Lys1557=)
c.4488G>A (p.Lys1496=)
c.4347G>A (p.Lys1449=)
2g.86030305T>ACA347545468POLR1Ac.4670A>T (p.Lys1557Met)
c.4487A>T (p.Lys1496Met)
c.4346A>T (p.Lys1449Met)
2g.86030305T>CCA347545469POLR1Ac.4670A>G (p.Lys1557Arg)
c.4487A>G (p.Lys1496Arg)
c.4346A>G (p.Lys1449Arg)
2g.86030305T>GCA347545470POLR1Ac.4670A>C (p.Lys1557Thr)
c.4487A>C (p.Lys1496Thr)
c.4346A>C (p.Lys1449Thr)
2g.86030306T>ACA347545471POLR1Ac.4669A>T (p.Lys1557Ter)
c.4486A>T (p.Lys1496Ter)
c.4345A>T (p.Lys1449Ter)
2g.86030306T>CCA347545472POLR1Ac.4669A>G (p.Lys1557Glu)
c.4486A>G (p.Lys1496Glu)
c.4345A>G (p.Lys1449Glu)
2g.86030306T>GCA347545473POLR1Ac.4669A>C (p.Lys1557Gln)
c.4486A>C (p.Lys1496Gln)
c.4345A>C (p.Lys1449Gln)
2g.86030307G>ACA427147121POLR1Ac.4668C>T (p.Thr1556=)
c.4485C>T (p.Thr1495=)
c.4344C>T (p.Thr1448=)
2g.86030307G>CCA427147122POLR1Ac.4668C>G (p.Thr1556=)
c.4485C>G (p.Thr1495=)
c.4344C>G (p.Thr1448=)
2g.86030307G>TCA427147123POLR1Ac.4668C>A (p.Thr1556=)
c.4485C>A (p.Thr1495=)
c.4344C>A (p.Thr1448=)
2g.86030308G>ACA347545474POLR1Ac.4667C>T (p.Thr1556Ile)
c.4484C>T (p.Thr1495Ile)
c.4343C>T (p.Thr1448Ile)
2g.86030308G>CCA347545475POLR1Ac.4667C>G (p.Thr1556Ser)
c.4484C>G (p.Thr1495Ser)
c.4343C>G (p.Thr1448Ser)
2g.86030308G>TCA347545476POLR1Ac.4667C>A (p.Thr1556Asn)
c.4484C>A (p.Thr1495Asn)
c.4343C>A (p.Thr1448Asn)
2g.86030309T>ACA347545478POLR1Ac.4666A>T (p.Thr1556Ser)
c.4483A>T (p.Thr1495Ser)
c.4342A>T (p.Thr1448Ser)
2g.86030309T>CCA347545479POLR1Ac.4666A>G (p.Thr1556Ala)
c.4483A>G (p.Thr1495Ala)
c.4342A>G (p.Thr1448Ala)
2g.86030309T>GCA347545477POLR1Ac.4666A>C (p.Thr1556Pro)
c.4483A>C (p.Thr1495Pro)
c.4342A>C (p.Thr1448Pro)
2g.86030310C>ACA427147125POLR1Ac.4665G>T (p.Ala1555=)
c.4482G>T (p.Ala1494=)
c.4341G>T (p.Ala1447=)
 gnomAD v4
2g.86030310C=CA1267041323POLR1Ac.4665G= (p.Ala1555=)
c.4482G= (p.Ala1494=)
c.4341G= (p.Ala1447=)
2g.86030310C>GCA427147126POLR1Ac.4665G>C (p.Ala1555=)
c.4482G>C (p.Ala1494=)
c.4341G>C (p.Ala1447=)
 dbSNP gnomAD v2 gnomAD v4
2g.86030310C>TCA1745431POLR1Ac.4665G>A (p.Ala1555=)
c.4482G>A (p.Ala1494=)
c.4341G>A (p.Ala1447=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.86030311G>ACA1745432POLR1Ac.4664C>T (p.Ala1555Val)
c.4481C>T (p.Ala1494Val)
c.4340C>T (p.Ala1447Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.86030311G>CCA347545480POLR1Ac.4664C>G (p.Ala1555Gly)
c.4481C>G (p.Ala1494Gly)
c.4340C>G (p.Ala1447Gly)
2g.86030311G=CA1267041324POLR1Ac.4664C= (p.Ala1555=)
c.4481C= (p.Ala1494=)
c.4340C= (p.Ala1447=)
2g.86030311G>TCA347545481POLR1Ac.4664C>A (p.Ala1555Glu)
c.4481C>A (p.Ala1494Glu)
c.4340C>A (p.Ala1447Glu)
2g.86030312C>ACA347545482POLR1Ac.4663G>T (p.Ala1555Ser)
c.4480G>T (p.Ala1494Ser)
c.4339G>T (p.Ala1447Ser)
2g.86030312C=CA1267041325POLR1Ac.4663G= (p.Ala1555=)
c.4480G= (p.Ala1494=)
c.4339G= (p.Ala1447=)
2g.86030312C>GCA347545483POLR1Ac.4663G>C (p.Ala1555Pro)
c.4480G>C (p.Ala1494Pro)
c.4339G>C (p.Ala1447Pro)
2g.86030312C>TCA347545484POLR1Ac.4663G>A (p.Ala1555Thr)
c.4480G>A (p.Ala1494Thr)
c.4339G>A (p.Ala1447Thr)
 dbSNP
2g.86030313A>CCA347545485POLR1Ac.4662T>G (p.Tyr1554Ter)
c.4479T>G (p.Tyr1493Ter)
c.4338T>G (p.Tyr1446Ter)
2g.86030313A>GCA427147128POLR1Ac.4662T>C (p.Tyr1554=)
c.4479T>C (p.Tyr1493=)
c.4338T>C (p.Tyr1446=)
 dbSNP gnomAD v4
2g.86030313A>TCA347545486POLR1Ac.4662T>A (p.Tyr1554Ter)
c.4479T>A (p.Tyr1493Ter)
c.4338T>A (p.Tyr1446Ter)
2g.86030314T>ACA347545487POLR1Ac.4661A>T (p.Tyr1554Phe)
c.4478A>T (p.Tyr1493Phe)
c.4337A>T (p.Tyr1446Phe)
2g.86030314T>CCA1745433POLR1Ac.4661A>G (p.Tyr1554Cys)
c.4478A>G (p.Tyr1493Cys)
c.4337A>G (p.Tyr1446Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.86030314T>GCA347545488POLR1Ac.4661A>C (p.Tyr1554Ser)
c.4478A>C (p.Tyr1493Ser)
c.4337A>C (p.Tyr1446Ser)
2g.86030314T=CA1267041326POLR1Ac.4661A= (p.Tyr1554=)
c.4478A= (p.Tyr1493=)
c.4337A= (p.Tyr1446=)
2g.86030315A>CCA347545490POLR1Ac.4660T>G (p.Tyr1554Asp)
c.4477T>G (p.Tyr1493Asp)
c.4336T>G (p.Tyr1446Asp)
2g.86030315A>GCA347545491POLR1Ac.4660T>C (p.Tyr1554His)
c.4477T>C (p.Tyr1493His)
c.4336T>C (p.Tyr1446His)
2g.86030315A>TCA347545489POLR1Ac.4660T>A (p.Tyr1554Asn)
c.4477T>A (p.Tyr1493Asn)
c.4336T>A (p.Tyr1446Asn)
2g.86030316G>ACA427147133POLR1Ac.4659C>T (p.Ile1553=)
c.4476C>T (p.Ile1492=)
c.4335C>T (p.Ile1445=)
 gnomAD v4
2g.86030316G>CCA347545492POLR1Ac.4659C>G (p.Ile1553Met)
c.4476C>G (p.Ile1492Met)
c.4335C>G (p.Ile1445Met)
 dbSNP
2g.86030316G=CA1267041327POLR1Ac.4659C= (p.Ile1553=)
c.4476C= (p.Ile1492=)
c.4335C= (p.Ile1445=)
2g.86030316G>TCA427147132POLR1Ac.4659C>A (p.Ile1553=)
c.4476C>A (p.Ile1492=)
c.4335C>A (p.Ile1445=)
2g.86030317A>CCA347545493POLR1Ac.4658T>G (p.Ile1553Ser)
c.4475T>G (p.Ile1492Ser)
c.4334T>G (p.Ile1445Ser)
2g.86030317A>GCA347545494POLR1Ac.4658T>C (p.Ile1553Thr)
c.4475T>C (p.Ile1492Thr)
c.4334T>C (p.Ile1445Thr)
 gnomAD v4
2g.86030317A>TCA347545495POLR1Ac.4658T>A (p.Ile1553Asn)
c.4475T>A (p.Ile1492Asn)
c.4334T>A (p.Ile1445Asn)
2g.86030318T>ACA347545496POLR1Ac.4657A>T (p.Ile1553Phe)
c.4474A>T (p.Ile1492Phe)
c.4333A>T (p.Ile1445Phe)
 gnomAD v4
2g.86030318T>CCA1745434POLR1Ac.4657A>G (p.Ile1553Val)
c.4474A>G (p.Ile1492Val)
c.4333A>G (p.Ile1445Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030318T>GCA347545497POLR1Ac.4657A>C (p.Ile1553Leu)
c.4474A>C (p.Ile1492Leu)
c.4333A>C (p.Ile1445Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.86030318T=CA1267041328POLR1Ac.4657A= (p.Ile1553=)
c.4474A= (p.Ile1492=)
c.4333A= (p.Ile1445=)
2g.86030319G>ACA427147135POLR1Ac.4656C>T (p.Val1552=)
c.4473C>T (p.Val1491=)
c.4332C>T (p.Val1444=)
2g.86030319G>CCA427147137POLR1Ac.4656C>G (p.Val1552=)
c.4473C>G (p.Val1491=)
c.4332C>G (p.Val1444=)
2g.86030319G>TCA427147134POLR1Ac.4656C>A (p.Val1552=)
c.4473C>A (p.Val1491=)
c.4332C>A (p.Val1444=)
2g.86030320A>CCA347545498POLR1Ac.4655T>G (p.Val1552Gly)
c.4472T>G (p.Val1491Gly)
c.4331T>G (p.Val1444Gly)
2g.86030320A>GCA347545500POLR1Ac.4655T>C (p.Val1552Ala)
c.4472T>C (p.Val1491Ala)
c.4331T>C (p.Val1444Ala)
2g.86030320A>TCA347545499POLR1Ac.4655T>A (p.Val1552Asp)
c.4472T>A (p.Val1491Asp)
c.4331T>A (p.Val1444Asp)
2g.86030321C>ACA347545501POLR1Ac.4654G>T (p.Val1552Phe)
c.4471G>T (p.Val1491Phe)
c.4330G>T (p.Val1444Phe)
2g.86030321C=CA1267041329POLR1Ac.4654G= (p.Val1552=)
c.4471G= (p.Val1491=)
c.4330G= (p.Val1444=)
2g.86030321C>GCA1745435POLR1Ac.4654G>C (p.Val1552Leu)
c.4471G>C (p.Val1491Leu)
c.4330G>C (p.Val1444Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.86030321C>TCA1745436POLR1Ac.4654G>A (p.Val1552Ile)
c.4471G>A (p.Val1491Ile)
c.4330G>A (p.Val1444Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.86030322G>ACA1745437POLR1Ac.4653C>T (p.Ala1551=)
c.4470C>T (p.Ala1490=)
c.4329C>T (p.Ala1443=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.86030322G>CCA427147139POLR1Ac.4653C>G (p.Ala1551=)
c.4470C>G (p.Ala1490=)
c.4329C>G (p.Ala1443=)
2g.86030322G=CA1267041330POLR1Ac.4653C= (p.Ala1551=)
c.4470C= (p.Ala1490=)
c.4329C= (p.Ala1443=)
2g.86030322G>TCA427147141POLR1Ac.4653C>A (p.Ala1551=)
c.4470C>A (p.Ala1490=)
c.4329C>A (p.Ala1443=)
2g.86030323G>ACA1745438POLR1Ac.4652C>T (p.Ala1551Val)
c.4469C>T (p.Ala1490Val)
c.4328C>T (p.Ala1443Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.86030323G>CCA347545503POLR1Ac.4652C>G (p.Ala1551Gly)
c.4469C>G (p.Ala1490Gly)
c.4328C>G (p.Ala1443Gly)
2g.86030323G=CA1267041331POLR1Ac.4652C= (p.Ala1551=)
c.4469C= (p.Ala1490=)
c.4328C= (p.Ala1443=)
2g.86030323G>TCA347545502POLR1Ac.4652C>A (p.Ala1551Asp)
c.4469C>A (p.Ala1490Asp)
c.4328C>A (p.Ala1443Asp)
2g.86030324C>ACA347545504POLR1Ac.4651G>T (p.Ala1551Ser)
c.4468G>T (p.Ala1490Ser)
c.4327G>T (p.Ala1443Ser)
2g.86030324C=CA1267041332POLR1Ac.4651G= (p.Ala1551=)
c.4468G= (p.Ala1490=)
c.4327G= (p.Ala1443=)
2g.86030324C>GCA347545506POLR1Ac.4651G>C (p.Ala1551Pro)
c.4468G>C (p.Ala1490Pro)
c.4327G>C (p.Ala1443Pro)
2g.86030324C>TCA347545505POLR1Ac.4651G>A (p.Ala1551Thr)
c.4468G>A (p.Ala1490Thr)
c.4327G>A (p.Ala1443Thr)
 dbSNP
2g.86030325A>CCA427147144POLR1Ac.4650T>G (p.Gly1550=)
c.4467T>G (p.Gly1489=)
c.4326T>G (p.Gly1442=)
2g.86030325A>GCA427147146POLR1Ac.4650T>C (p.Gly1550=)
c.4467T>C (p.Gly1489=)
c.4326T>C (p.Gly1442=)
 gnomAD v4
2g.86030325A>TCA427147142POLR1Ac.4650T>A (p.Gly1550=)
c.4467T>A (p.Gly1489=)
c.4326T>A (p.Gly1442=)
2g.86030326C>ACA347545507POLR1Ac.4649G>T (p.Gly1550Val)
c.4466G>T (p.Gly1489Val)
c.4325G>T (p.Gly1442Val)
 gnomAD v4
2g.86030326C>GCA347545509POLR1Ac.4649G>C (p.Gly1550Ala)
c.4466G>C (p.Gly1489Ala)
c.4325G>C (p.Gly1442Ala)
2g.86030326C>TCA347545508POLR1Ac.4649G>A (p.Gly1550Asp)
c.4466G>A (p.Gly1489Asp)
c.4325G>A (p.Gly1442Asp)
2g.86030327C>ACA347545510POLR1Ac.4648G>T (p.Gly1550Cys)
c.4465G>T (p.Gly1489Cys)
c.4324G>T (p.Gly1442Cys)
2g.86030327C=CA1267041333POLR1Ac.4648G= (p.Gly1550=)
c.4465G= (p.Gly1489=)
c.4324G= (p.Gly1442=)
2g.86030327C>GCA347545511POLR1Ac.4648G>C (p.Gly1550Arg)
c.4465G>C (p.Gly1489Arg)
c.4324G>C (p.Gly1442Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.86030327C>TCA347545512POLR1Ac.4648G>A (p.Gly1550Ser)
c.4465G>A (p.Gly1489Ser)
c.4324G>A (p.Gly1442Ser)
2g.86030328A>CCA347545513POLR1Ac.4647T>G (p.His1549Gln)
c.4464T>G (p.His1488Gln)
c.4323T>G (p.His1441Gln)
2g.86030328A>GCA427147148POLR1Ac.4647T>C (p.His1549=)
c.4464T>C (p.His1488=)
c.4323T>C (p.His1441=)
2g.86030328A>TCA347545514POLR1Ac.4647T>A (p.His1549Gln)
c.4464T>A (p.His1488Gln)
c.4323T>A (p.His1441Gln)
2g.86030329T>ACA347545516POLR1Ac.4646A>T (p.His1549Leu)
c.4463A>T (p.His1488Leu)
c.4322A>T (p.His1441Leu)
2g.86030329T>CCA347545515POLR1Ac.4646A>G (p.His1549Arg)
c.4463A>G (p.His1488Arg)
c.4322A>G (p.His1441Arg)
2g.86030329T>GCA1745439POLR1Ac.4646A>C (p.His1549Pro)
c.4463A>C (p.His1488Pro)
c.4322A>C (p.His1441Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.86030329T=CA1267041334POLR1Ac.4646A= (p.His1549=)
c.4463A= (p.His1488=)
c.4322A= (p.His1441=)
2g.86030330G>ACA347545517POLR1Ac.4645C>T (p.His1549Tyr)
c.4462C>T (p.His1488Tyr)
c.4321C>T (p.His1441Tyr)
 ClinVar gnomAD v4
2g.86030330G>CCA347545518POLR1Ac.4645C>G (p.His1549Asp)
c.4462C>G (p.His1488Asp)
c.4321C>G (p.His1441Asp)
2g.86030330G>TCA347545519POLR1Ac.4645C>A (p.His1549Asn)
c.4462C>A (p.His1488Asn)
c.4321C>A (p.His1441Asn)
2g.86030331G>ACA427147152POLR1Ac.4644C>T (p.Ala1548=)
c.4461C>T (p.Ala1487=)
c.4320C>T (p.Ala1440=)
2g.86030331G>CCA427147154POLR1Ac.4644C>G (p.Ala1548=)
c.4461C>G (p.Ala1487=)
c.4320C>G (p.Ala1440=)
2g.86030331G>TCA427147153POLR1Ac.4644C>A (p.Ala1548=)
c.4461C>A (p.Ala1487=)
c.4320C>A (p.Ala1440=)
2g.86030332G>ACA347545520POLR1Ac.4643C>T (p.Ala1548Val)
c.4460C>T (p.Ala1487Val)
c.4319C>T (p.Ala1440Val)
 dbSNP gnomAD v2 gnomAD v4
2g.86030332G>CCA347545521POLR1Ac.4643C>G (p.Ala1548Gly)
c.4460C>G (p.Ala1487Gly)
c.4319C>G (p.Ala1440Gly)
2g.86030332G=CA1267041335POLR1Ac.4643C= (p.Ala1548=)
c.4460C= (p.Ala1487=)
c.4319C= (p.Ala1440=)
2g.86030332G>TCA347545522POLR1Ac.4643C>A (p.Ala1548Asp)
c.4460C>A (p.Ala1487Asp)
c.4319C>A (p.Ala1440Asp)
2g.86030333C>ACA347545523POLR1Ac.4642G>T (p.Ala1548Ser)
c.4459G>T (p.Ala1487Ser)
c.4318G>T (p.Ala1440Ser)
2g.86030333C>GCA347545525POLR1Ac.4642G>C (p.Ala1548Pro)
c.4459G>C (p.Ala1487Pro)
c.4318G>C (p.Ala1440Pro)
 gnomAD v4
2g.86030333C>TCA347545524POLR1Ac.4642G>A (p.Ala1548Thr)
c.4459G>A (p.Ala1487Thr)
c.4318G>A (p.Ala1440Thr)
 COSMIC

Number of alleles fetched