Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.86030334C>ACA347545526POLR1Ac.4641G>T (p.Leu1547Phe)
c.4458G>T (p.Leu1486Phe)
c.4317G>T (p.Leu1439Phe)
2g.86030334C>GCA347545527POLR1Ac.4641G>C (p.Leu1547Phe)
c.4458G>C (p.Leu1486Phe)
c.4317G>C (p.Leu1439Phe)
2g.86030334C>TCA427147157POLR1Ac.4641G>A (p.Leu1547=)
c.4458G>A (p.Leu1486=)
c.4317G>A (p.Leu1439=)
2g.86030335A=CA1267041336POLR1Ac.4640T= (p.Leu1547=)
c.4457T= (p.Leu1486=)
c.4316T= (p.Leu1439=)
2g.86030335A>CCA347545528POLR1Ac.4640T>G (p.Leu1547Trp)
c.4457T>G (p.Leu1486Trp)
c.4316T>G (p.Leu1439Trp)
2g.86030335A>GCA347545529POLR1Ac.4640T>C (p.Leu1547Ser)
c.4457T>C (p.Leu1486Ser)
c.4316T>C (p.Leu1439Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.86030335A>TCA347545530POLR1Ac.4640T>A (p.Leu1547Ter)
c.4457T>A (p.Leu1486Ter)
c.4316T>A (p.Leu1439Ter)
2g.86030336_86030337delCA2659905222POLR1Ac.4639_4640del (p.Leu1547GlyfsTer19)
c.4456_4457del (p.Leu1486GlyfsTer19)
c.4315_4316del (p.Leu1439GlyfsTer19)
 gnomAD v4
2g.86030336A>CCA347545531POLR1Ac.4639T>G (p.Leu1547Val)
c.4456T>G (p.Leu1486Val)
c.4315T>G (p.Leu1439Val)
2g.86030336A>GCA427147161POLR1Ac.4639T>C (p.Leu1547=)
c.4456T>C (p.Leu1486=)
c.4315T>C (p.Leu1439=)
2g.86030336A>TCA347545532POLR1Ac.4639T>A (p.Leu1547Met)
c.4456T>A (p.Leu1486Met)
c.4315T>A (p.Leu1439Met)
2g.86030337A>CCA427147164POLR1Ac.4638T>G (p.Ser1546=)
c.4455T>G (p.Ser1485=)
c.4314T>G (p.Ser1438=)
2g.86030337A>GCA427147162POLR1Ac.4638T>C (p.Ser1546=)
c.4455T>C (p.Ser1485=)
c.4314T>C (p.Ser1438=)
2g.86030337A>TCA427147163POLR1Ac.4638T>A (p.Ser1546=)
c.4455T>A (p.Ser1485=)
c.4314T>A (p.Ser1438=)
2g.86030338G>ACA347545533POLR1Ac.4637C>T (p.Ser1546Phe)
c.4454C>T (p.Ser1485Phe)
c.4313C>T (p.Ser1438Phe)
 ClinVar
2g.86030338G>CCA347545534POLR1Ac.4637C>G (p.Ser1546Cys)
c.4454C>G (p.Ser1485Cys)
c.4313C>G (p.Ser1438Cys)
2g.86030338G=CA1267041337POLR1Ac.4637C= (p.Ser1546=)
c.4454C= (p.Ser1485=)
c.4313C= (p.Ser1438=)
2g.86030338G>TCA347545535POLR1Ac.4637C>A (p.Ser1546Tyr)
c.4454C>A (p.Ser1485Tyr)
c.4313C>A (p.Ser1438Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.86030339A>CCA347545536POLR1Ac.4636T>G (p.Ser1546Ala)
c.4453T>G (p.Ser1485Ala)
c.4312T>G (p.Ser1438Ala)
2g.86030339A>GCA347545538POLR1Ac.4636T>C (p.Ser1546Pro)
c.4453T>C (p.Ser1485Pro)
c.4312T>C (p.Ser1438Pro)
2g.86030339A>TCA347545537POLR1Ac.4636T>A (p.Ser1546Thr)
c.4453T>A (p.Ser1485Thr)
c.4312T>A (p.Ser1438Thr)
2g.86030340T>ACA427147169POLR1Ac.4635A>T (p.Val1545=)
c.4452A>T (p.Val1484=)
c.4311A>T (p.Val1437=)
2g.86030340T>CCA427147170POLR1Ac.4635A>G (p.Val1545=)
c.4452A>G (p.Val1484=)
c.4311A>G (p.Val1437=)
2g.86030340T>GCA427147168POLR1Ac.4635A>C (p.Val1545=)
c.4452A>C (p.Val1484=)
c.4311A>C (p.Val1437=)
2g.86030341A>CCA347545539POLR1Ac.4634T>G (p.Val1545Gly)
c.4451T>G (p.Val1484Gly)
c.4310T>G (p.Val1437Gly)
 COSMIC
2g.86030341A>GCA347545540POLR1Ac.4634T>C (p.Val1545Ala)
c.4451T>C (p.Val1484Ala)
c.4310T>C (p.Val1437Ala)
2g.86030341A>TCA347545541POLR1Ac.4634T>A (p.Val1545Glu)
c.4451T>A (p.Val1484Glu)
c.4310T>A (p.Val1437Glu)
2g.86030342C>ACA1745440POLR1Ac.4633G>T (p.Val1545Leu)
c.4450G>T (p.Val1484Leu)
c.4309G>T (p.Val1437Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.86030342C=CA1267041338POLR1Ac.4633G= (p.Val1545=)
c.4450G= (p.Val1484=)
c.4309G= (p.Val1437=)
2g.86030342C>GCA347545542POLR1Ac.4633G>C (p.Val1545Leu)
c.4450G>C (p.Val1484Leu)
c.4309G>C (p.Val1437Leu)
2g.86030342C>TCA347545543POLR1Ac.4633G>A (p.Val1545Ile)
c.4450G>A (p.Val1484Ile)
c.4309G>A (p.Val1437Ile)
 COSMIC
2g.86030343T>ACA427147172POLR1Ac.4632A>T (p.Val1544=)
c.4449A>T (p.Val1483=)
c.4308A>T (p.Val1436=)
2g.86030343T>CCA51365813POLR1Ac.4632A>G (p.Val1544=)
c.4449A>G (p.Val1483=)
c.4308A>G (p.Val1436=)
 dbSNP gnomAD v4
2g.86030343T>GCA427147173POLR1Ac.4632A>C (p.Val1544=)
c.4449A>C (p.Val1483=)
c.4308A>C (p.Val1436=)
2g.86030343T=CA1267041339POLR1Ac.4632A= (p.Val1544=)
c.4449A= (p.Val1483=)
c.4308A= (p.Val1436=)
2g.86030344A>CCA347545544POLR1Ac.4631T>G (p.Val1544Gly)
c.4448T>G (p.Val1483Gly)
c.4307T>G (p.Val1436Gly)
2g.86030344A>GCA347545545POLR1Ac.4631T>C (p.Val1544Ala)
c.4448T>C (p.Val1483Ala)
c.4307T>C (p.Val1436Ala)
2g.86030344A>TCA347545546POLR1Ac.4631T>A (p.Val1544Glu)
c.4448T>A (p.Val1483Glu)
c.4307T>A (p.Val1436Glu)
2g.86030345C>ACA347545549POLR1Ac.4630G>T (p.Val1544Leu)
c.4447G>T (p.Val1483Leu)
c.4306G>T (p.Val1436Leu)
2g.86030345C>GCA347545548POLR1Ac.4630G>C (p.Val1544Leu)
c.4447G>C (p.Val1483Leu)
c.4306G>C (p.Val1436Leu)
2g.86030345C>TCA347545547POLR1Ac.4630G>A (p.Val1544Ile)
c.4447G>A (p.Val1483Ile)
c.4306G>A (p.Val1436Ile)
2g.86030346C>ACA427147177POLR1Ac.4629G>T (p.Leu1543=)
c.4446G>T (p.Leu1482=)
c.4305G>T (p.Leu1435=)
2g.86030346C=CA1267041340POLR1Ac.4629G= (p.Leu1543=)
c.4446G= (p.Leu1482=)
c.4305G= (p.Leu1435=)
2g.86030346C>GCA427147178POLR1Ac.4629G>C (p.Leu1543=)
c.4446G>C (p.Leu1482=)
c.4305G>C (p.Leu1435=)
2g.86030346C>TCA427147179POLR1Ac.4629G>A (p.Leu1543=)
c.4446G>A (p.Leu1482=)
c.4305G>A (p.Leu1435=)
 dbSNP gnomAD v3 gnomAD v4
2g.86030347A>CCA347545550POLR1Ac.4628T>G (p.Leu1543Arg)
c.4445T>G (p.Leu1482Arg)
c.4304T>G (p.Leu1435Arg)
2g.86030347A>GCA347545551POLR1Ac.4628T>C (p.Leu1543Pro)
c.4445T>C (p.Leu1482Pro)
c.4304T>C (p.Leu1435Pro)
2g.86030347A>TCA347545552POLR1Ac.4628T>A (p.Leu1543Gln)
c.4445T>A (p.Leu1482Gln)
c.4304T>A (p.Leu1435Gln)
2g.86030348G>ACA427147182POLR1Ac.4627C>T (p.Leu1543=)
c.4444C>T (p.Leu1482=)
c.4303C>T (p.Leu1435=)
2g.86030348G>CCA347545553POLR1Ac.4627C>G (p.Leu1543Val)
c.4444C>G (p.Leu1482Val)
c.4303C>G (p.Leu1435Val)
2g.86030348G>TCA347545554POLR1Ac.4627C>A (p.Leu1543Met)
c.4444C>A (p.Leu1482Met)
c.4303C>A (p.Leu1435Met)
2g.86030349G>ACA1745441POLR1Ac.4626C>T (p.Ser1542=)
c.4443C>T (p.Ser1481=)
c.4302C>T (p.Ser1434=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030349G>CCA427147183POLR1Ac.4626C>G (p.Ser1542=)
c.4443C>G (p.Ser1481=)
c.4302C>G (p.Ser1434=)
2g.86030349G=CA1267041341POLR1Ac.4626C= (p.Ser1542=)
c.4443C= (p.Ser1481=)
c.4302C= (p.Ser1434=)
2g.86030349G>TCA427147185POLR1Ac.4626C>A (p.Ser1542=)
c.4443C>A (p.Ser1481=)
c.4302C>A (p.Ser1434=)
 dbSNP gnomAD v4
2g.86030350G>ACA347545555POLR1Ac.4625C>T (p.Ser1542Phe)
c.4442C>T (p.Ser1481Phe)
c.4301C>T (p.Ser1434Phe)
2g.86030350G>CCA347545556POLR1Ac.4625C>G (p.Ser1542Cys)
c.4442C>G (p.Ser1481Cys)
c.4301C>G (p.Ser1434Cys)
2g.86030350G>TCA347545557POLR1Ac.4625C>A (p.Ser1542Tyr)
c.4442C>A (p.Ser1481Tyr)
c.4301C>A (p.Ser1434Tyr)
2g.86030351A=CA1267041342POLR1Ac.4624T= (p.Ser1542=)
c.4441T= (p.Ser1481=)
c.4300T= (p.Ser1434=)
2g.86030351A>CCA347545558POLR1Ac.4624T>G (p.Ser1542Ala)
c.4441T>G (p.Ser1481Ala)
c.4300T>G (p.Ser1434Ala)
2g.86030351A>GCA347545559POLR1Ac.4624T>C (p.Ser1542Pro)
c.4441T>C (p.Ser1481Pro)
c.4300T>C (p.Ser1434Pro)
2g.86030351A>TCA1745442POLR1Ac.4624T>A (p.Ser1542Thr)
c.4441T>A (p.Ser1481Thr)
c.4300T>A (p.Ser1434Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030352G>ACA1745443POLR1Ac.4623C>T (p.Ser1541=)
c.4440C>T (p.Ser1480=)
c.4299C>T (p.Ser1433=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.86030352G>CCA347545561POLR1Ac.4623C>G (p.Ser1541Arg)
c.4440C>G (p.Ser1480Arg)
c.4299C>G (p.Ser1433Arg)
2g.86030352G=CA1267041343POLR1Ac.4623C= (p.Ser1541=)
c.4440C= (p.Ser1480=)
c.4299C= (p.Ser1433=)
2g.86030352G>TCA347545560POLR1Ac.4623C>A (p.Ser1541Arg)
c.4440C>A (p.Ser1480Arg)
c.4299C>A (p.Ser1433Arg)
2g.86030353C>ACA347545563POLR1Ac.4622G>T (p.Ser1541Ile)
c.4439G>T (p.Ser1480Ile)
c.4298G>T (p.Ser1433Ile)
2g.86030353C=CA1267041344POLR1Ac.4622G= (p.Ser1541=)
c.4439G= (p.Ser1480=)
c.4298G= (p.Ser1433=)
2g.86030353C>GCA347545562POLR1Ac.4622G>C (p.Ser1541Thr)
c.4439G>C (p.Ser1480Thr)
c.4298G>C (p.Ser1433Thr)
 gnomAD v4
2g.86030353C>TCA51365841POLR1Ac.4622G>A (p.Ser1541Asn)
c.4439G>A (p.Ser1480Asn)
c.4298G>A (p.Ser1433Asn)
 dbSNP
2g.86030354T>ACA347545564POLR1Ac.4621A>T (p.Ser1541Cys)
c.4438A>T (p.Ser1480Cys)
c.4297A>T (p.Ser1433Cys)
2g.86030354T>CCA347545565POLR1Ac.4621A>G (p.Ser1541Gly)
c.4438A>G (p.Ser1480Gly)
c.4297A>G (p.Ser1433Gly)
2g.86030354T>GCA347545566POLR1Ac.4621A>C (p.Ser1541Arg)
c.4438A>C (p.Ser1480Arg)
c.4297A>C (p.Ser1433Arg)
2g.86030355C>ACA347545567POLR1Ac.4620G>T (p.Met1540Ile)
c.4437G>T (p.Met1479Ile)
c.4296G>T (p.Met1432Ile)
2g.86030355C>GCA347545568POLR1Ac.4620G>C (p.Met1540Ile)
c.4437G>C (p.Met1479Ile)
c.4296G>C (p.Met1432Ile)
2g.86030355C>TCA347545569POLR1Ac.4620G>A (p.Met1540Ile)
c.4437G>A (p.Met1479Ile)
c.4296G>A (p.Met1432Ile)
2g.86030356A=CA1267041345POLR1Ac.4619T= (p.Met1540=)
c.4436T= (p.Met1479=)
c.4295T= (p.Met1432=)
2g.86030356A>CCA347545570POLR1Ac.4619T>G (p.Met1540Arg)
c.4436T>G (p.Met1479Arg)
c.4295T>G (p.Met1432Arg)
2g.86030356A>GCA347545571POLR1Ac.4619T>C (p.Met1540Thr)
c.4436T>C (p.Met1479Thr)
c.4295T>C (p.Met1432Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.86030356A>TCA347545572POLR1Ac.4619T>A (p.Met1540Lys)
c.4436T>A (p.Met1479Lys)
c.4295T>A (p.Met1432Lys)
2g.86030357T>ACA347545574POLR1Ac.4618A>T (p.Met1540Leu)
c.4435A>T (p.Met1479Leu)
c.4294A>T (p.Met1432Leu)
2g.86030357T>CCA347545576POLR1Ac.4618A>G (p.Met1540Val)
c.4435A>G (p.Met1479Val)
c.4294A>G (p.Met1432Val)
 ClinVar dbSNP
2g.86030357T>GCA347545578POLR1Ac.4618A>C (p.Met1540Leu)
c.4435A>C (p.Met1479Leu)
c.4294A>C (p.Met1432Leu)
 gnomAD v4
2g.86030357T=CA1267041346POLR1Ac.4618A= (p.Met1540=)
c.4435A= (p.Met1479=)
c.4294A= (p.Met1432=)
2g.86030358G>ACA427147192POLR1Ac.4617C>T (p.Asp1539=)
c.4434C>T (p.Asp1478=)
c.4293C>T (p.Asp1431=)
2g.86030358G>CCA347545579POLR1Ac.4617C>G (p.Asp1539Glu)
c.4434C>G (p.Asp1478Glu)
c.4293C>G (p.Asp1431Glu)
2g.86030358G>TCA347545581POLR1Ac.4617C>A (p.Asp1539Glu)
c.4434C>A (p.Asp1478Glu)
c.4293C>A (p.Asp1431Glu)
2g.86030358_86030359insAAAAGGTTTCA2750775269POLR1Ac.4616_4617insAAACCTTTT (p.Asp1539delinsGluAsnLeuPhe)
c.4433_4434insAAACCTTTT (p.Asp1478delinsGluAsnLeuPhe)
c.4292_4293insAAACCTTTT (p.Asp1431delinsGluAsnLeuPhe)
2g.86030359T>ACA347545583POLR1Ac.4616A>T (p.Asp1539Val)
c.4433A>T (p.Asp1478Val)
c.4292A>T (p.Asp1431Val)
2g.86030359T>CCA347545584POLR1Ac.4616A>G (p.Asp1539Gly)
c.4433A>G (p.Asp1478Gly)
c.4292A>G (p.Asp1431Gly)
2g.86030359T>GCA347545586POLR1Ac.4616A>C (p.Asp1539Ala)
c.4433A>C (p.Asp1478Ala)
c.4292A>C (p.Asp1431Ala)
2g.86030360C>ACA347545588POLR1Ac.4615G>T (p.Asp1539Tyr)
c.4432G>T (p.Asp1478Tyr)
c.4291G>T (p.Asp1431Tyr)
2g.86030360C>GCA347545590POLR1Ac.4615G>C (p.Asp1539His)
c.4432G>C (p.Asp1478His)
c.4291G>C (p.Asp1431His)
 COSMIC
2g.86030360C>TCA347545591POLR1Ac.4615G>A (p.Asp1539Asn)
c.4432G>A (p.Asp1478Asn)
c.4291G>A (p.Asp1431Asn)
2g.86030361A=CA1267041347POLR1Ac.4614T= (p.Phe1538=)
c.4431T= (p.Phe1477=)
c.4290T= (p.Phe1430=)
2g.86030361A>CCA347545593POLR1Ac.4614T>G (p.Phe1538Leu)
c.4431T>G (p.Phe1477Leu)
c.4290T>G (p.Phe1430Leu)
2g.86030361A>GCA51365850POLR1Ac.4614T>C (p.Phe1538=)
c.4431T>C (p.Phe1477=)
c.4290T>C (p.Phe1430=)
 dbSNP
2g.86030361A>TCA347545595POLR1Ac.4614T>A (p.Phe1538Leu)
c.4431T>A (p.Phe1477Leu)
c.4290T>A (p.Phe1430Leu)
2g.86030362A>CCA347545597POLR1Ac.4613T>G (p.Phe1538Cys)
c.4430T>G (p.Phe1477Cys)
c.4289T>G (p.Phe1430Cys)
2g.86030362A>GCA347545599POLR1Ac.4613T>C (p.Phe1538Ser)
c.4430T>C (p.Phe1477Ser)
c.4289T>C (p.Phe1430Ser)
2g.86030362A>TCA347545601POLR1Ac.4613T>A (p.Phe1538Tyr)
c.4430T>A (p.Phe1477Tyr)
c.4289T>A (p.Phe1430Tyr)
2g.86030362_86030363insGGCA2750775270POLR1Ac.4612_4613insCC (p.Phe1538SerfsTer4)
c.4429_4430insCC (p.Phe1477SerfsTer4)
c.4288_4289insCC (p.Phe1430SerfsTer4)
2g.86030363A>CCA347545606POLR1Ac.4612T>G (p.Phe1538Val)
c.4429T>G (p.Phe1477Val)
c.4288T>G (p.Phe1430Val)
2g.86030363A>GCA347545604POLR1Ac.4612T>C (p.Phe1538Leu)
c.4429T>C (p.Phe1477Leu)
c.4288T>C (p.Phe1430Leu)
2g.86030363A>TCA347545603POLR1Ac.4612T>A (p.Phe1538Ile)
c.4429T>A (p.Phe1477Ile)
c.4288T>A (p.Phe1430Ile)
2g.86030364G>ACA427147196POLR1Ac.4611C>T (p.Asn1537=)
c.4428C>T (p.Asn1476=)
c.4287C>T (p.Asn1429=)
2g.86030364G>CCA347545607POLR1Ac.4611C>G (p.Asn1537Lys)
c.4428C>G (p.Asn1476Lys)
c.4287C>G (p.Asn1429Lys)
 ClinVar dbSNP
2g.86030364G=CA1267041348POLR1Ac.4611C= (p.Asn1537=)
c.4428C= (p.Asn1476=)
c.4287C= (p.Asn1429=)
2g.86030364G>TCA347545609POLR1Ac.4611C>A (p.Asn1537Lys)
c.4428C>A (p.Asn1476Lys)
c.4287C>A (p.Asn1429Lys)
2g.86030365T>ACA1745444POLR1Ac.4610A>T (p.Asn1537Ile)
c.4427A>T (p.Asn1476Ile)
c.4286A>T (p.Asn1429Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030365T>CCA347545612POLR1Ac.4610A>G (p.Asn1537Ser)
c.4427A>G (p.Asn1476Ser)
c.4286A>G (p.Asn1429Ser)
 dbSNP gnomAD v4
2g.86030365T>GCA347545613POLR1Ac.4610A>C (p.Asn1537Thr)
c.4427A>C (p.Asn1476Thr)
c.4286A>C (p.Asn1429Thr)
 gnomAD v4
2g.86030365T=CA1267041349POLR1Ac.4610A= (p.Asn1537=)
c.4427A= (p.Asn1476=)
c.4286A= (p.Asn1429=)
2g.86030366T>ACA347545616POLR1Ac.4609A>T (p.Asn1537Tyr)
c.4426A>T (p.Asn1476Tyr)
c.4285A>T (p.Asn1429Tyr)
2g.86030366T>CCA347545618POLR1Ac.4609A>G (p.Asn1537Asp)
c.4426A>G (p.Asn1476Asp)
c.4285A>G (p.Asn1429Asp)
 gnomAD v4
2g.86030366T>GCA347545619POLR1Ac.4609A>C (p.Asn1537His)
c.4426A>C (p.Asn1476His)
c.4285A>C (p.Asn1429His)
2g.86030367G>ACA427147198POLR1Ac.4608C>T (p.Ile1536=)
c.4425C>T (p.Ile1475=)
c.4284C>T (p.Ile1428=)
2g.86030367G>CCA347545620POLR1Ac.4608C>G (p.Ile1536Met)
c.4425C>G (p.Ile1475Met)
c.4284C>G (p.Ile1428Met)
2g.86030367G>TCA427147199POLR1Ac.4608C>A (p.Ile1536=)
c.4425C>A (p.Ile1475=)
c.4284C>A (p.Ile1428=)
2g.86030368A=CA1267041350POLR1Ac.4607T= (p.Ile1536=)
c.4424T= (p.Ile1475=)
c.4283T= (p.Ile1428=)
2g.86030368A>CCA347545623POLR1Ac.4607T>G (p.Ile1536Ser)
c.4424T>G (p.Ile1475Ser)
c.4283T>G (p.Ile1428Ser)
2g.86030368A>GCA347545625POLR1Ac.4607T>C (p.Ile1536Thr)
c.4424T>C (p.Ile1475Thr)
c.4283T>C (p.Ile1428Thr)
 dbSNP
2g.86030368A>TCA1745445POLR1Ac.4607T>A (p.Ile1536Asn)
c.4424T>A (p.Ile1475Asn)
c.4283T>A (p.Ile1428Asn)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.86030369T>ACA347545629POLR1Ac.4606A>T (p.Ile1536Phe)
c.4423A>T (p.Ile1475Phe)
c.4282A>T (p.Ile1428Phe)
 gnomAD v4
2g.86030369T>CCA347545631POLR1Ac.4606A>G (p.Ile1536Val)
c.4423A>G (p.Ile1475Val)
c.4282A>G (p.Ile1428Val)
2g.86030369T>GCA347545628POLR1Ac.4606A>C (p.Ile1536Leu)
c.4423A>C (p.Ile1475Leu)
c.4282A>C (p.Ile1428Leu)
2g.86030370C>ACA347545633POLR1Ac.4605G>T (p.Lys1535Asn)
c.4422G>T (p.Lys1474Asn)
c.4281G>T (p.Lys1427Asn)
2g.86030370C=CA1267041351POLR1Ac.4605G= (p.Lys1535=)
c.4422G= (p.Lys1474=)
c.4281G= (p.Lys1427=)
2g.86030370C>GCA1745446POLR1Ac.4605G>C (p.Lys1535Asn)
c.4422G>C (p.Lys1474Asn)
c.4281G>C (p.Lys1427Asn)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.86030370C>TCA427147203POLR1Ac.4605G>A (p.Lys1535=)
c.4422G>A (p.Lys1474=)
c.4281G>A (p.Lys1427=)
 gnomAD v4
2g.86030371T>ACA347545635POLR1Ac.4604A>T (p.Lys1535Met)
c.4421A>T (p.Lys1474Met)
c.4280A>T (p.Lys1427Met)
2g.86030371T>CCA347545637POLR1Ac.4604A>G (p.Lys1535Arg)
c.4421A>G (p.Lys1474Arg)
c.4280A>G (p.Lys1427Arg)
2g.86030371T>GCA347545639POLR1Ac.4604A>C (p.Lys1535Thr)
c.4421A>C (p.Lys1474Thr)
c.4280A>C (p.Lys1427Thr)
2g.86030372T>ACA347545644POLR1Ac.4603A>T (p.Lys1535Ter)
c.4420A>T (p.Lys1474Ter)
c.4279A>T (p.Lys1427Ter)
2g.86030372T>CCA347545641POLR1Ac.4603A>G (p.Lys1535Glu)
c.4420A>G (p.Lys1474Glu)
c.4279A>G (p.Lys1427Glu)
2g.86030372T>GCA347545643POLR1Ac.4603A>C (p.Lys1535Gln)
c.4420A>C (p.Lys1474Gln)
c.4279A>C (p.Lys1427Gln)
2g.86030373C>ACA347545646POLR1Ac.4602G>T (p.Met1534Ile)
c.4419G>T (p.Met1473Ile)
c.4278G>T (p.Met1426Ile)
2g.86030373C>GCA347545648POLR1Ac.4602G>C (p.Met1534Ile)
c.4419G>C (p.Met1473Ile)
c.4278G>C (p.Met1426Ile)
2g.86030373C>TCA347545650POLR1Ac.4602G>A (p.Met1534Ile)
c.4419G>A (p.Met1473Ile)
c.4278G>A (p.Met1426Ile)
2g.86030374A>CCA347545652POLR1Ac.4601T>G (p.Met1534Arg)
c.4418T>G (p.Met1473Arg)
c.4277T>G (p.Met1426Arg)
2g.86030374A>GCA347545654POLR1Ac.4601T>C (p.Met1534Thr)
c.4418T>C (p.Met1473Thr)
c.4277T>C (p.Met1426Thr)
2g.86030374A>TCA347545656POLR1Ac.4601T>A (p.Met1534Lys)
c.4418T>A (p.Met1473Lys)
c.4277T>A (p.Met1426Lys)
2g.86030375T>ACA347545659POLR1Ac.4600A>T (p.Met1534Leu)
c.4417A>T (p.Met1473Leu)
c.4276A>T (p.Met1426Leu)
2g.86030375T>CCA347545660POLR1Ac.4600A>G (p.Met1534Val)
c.4417A>G (p.Met1473Val)
c.4276A>G (p.Met1426Val)
2g.86030375T>GCA347545657POLR1Ac.4600A>C (p.Met1534Leu)
c.4417A>C (p.Met1473Leu)
c.4276A>C (p.Met1426Leu)
2g.86030376C>ACA427147210POLR1Ac.4599G>T (p.Leu1533=)
c.4416G>T (p.Leu1472=)
c.4275G>T (p.Leu1425=)
2g.86030376C>GCA427147211POLR1Ac.4599G>C (p.Leu1533=)
c.4416G>C (p.Leu1472=)
c.4275G>C (p.Leu1425=)
2g.86030376C>TCA427147208POLR1Ac.4599G>A (p.Leu1533=)
c.4416G>A (p.Leu1472=)
c.4275G>A (p.Leu1425=)
2g.86030377A=CA1267041352POLR1Ac.4598T= (p.Leu1533=)
c.4415T= (p.Leu1472=)
c.4274T= (p.Leu1425=)
2g.86030377A>CCA347545663POLR1Ac.4598T>G (p.Leu1533Arg)
c.4415T>G (p.Leu1472Arg)
c.4274T>G (p.Leu1425Arg)
2g.86030377A>GCA1745447POLR1Ac.4598T>C (p.Leu1533Pro)
c.4415T>C (p.Leu1472Pro)
c.4274T>C (p.Leu1425Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030377A>TCA347545665POLR1Ac.4598T>A (p.Leu1533Gln)
c.4415T>A (p.Leu1472Gln)
c.4274T>A (p.Leu1425Gln)
2g.86030378G>ACA427147212POLR1Ac.4597C>T (p.Leu1533=)
c.4414C>T (p.Leu1472=)
c.4273C>T (p.Leu1425=)
2g.86030378G>CCA1745448POLR1Ac.4597C>G (p.Leu1533Val)
c.4414C>G (p.Leu1472Val)
c.4273C>G (p.Leu1425Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030378G=CA1267041353POLR1Ac.4597C= (p.Leu1533=)
c.4414C= (p.Leu1472=)
c.4273C= (p.Leu1425=)
2g.86030378G>TCA347545668POLR1Ac.4597C>A (p.Leu1533Met)
c.4414C>A (p.Leu1472Met)
c.4273C>A (p.Leu1425Met)
2g.86030379A>CCA427147216POLR1Ac.4596T>G (p.Pro1532=)
c.4413T>G (p.Pro1471=)
c.4272T>G (p.Pro1424=)
2g.86030379A>GCA427147217POLR1Ac.4596T>C (p.Pro1532=)
c.4413T>C (p.Pro1471=)
c.4272T>C (p.Pro1424=)
2g.86030379A>TCA427147218POLR1Ac.4596T>A (p.Pro1532=)
c.4413T>A (p.Pro1471=)
c.4272T>A (p.Pro1424=)
2g.86030380G>ACA347545670POLR1Ac.4595C>T (p.Pro1532Leu)
c.4412C>T (p.Pro1471Leu)
c.4271C>T (p.Pro1424Leu)
 dbSNP gnomAD v4
2g.86030380G>CCA347545672POLR1Ac.4595C>G (p.Pro1532Arg)
c.4412C>G (p.Pro1471Arg)
c.4271C>G (p.Pro1424Arg)
 gnomAD v4
2g.86030380G=CA1267041354POLR1Ac.4595C= (p.Pro1532=)
c.4412C= (p.Pro1471=)
c.4271C= (p.Pro1424=)
2g.86030380G>TCA347545673POLR1Ac.4595C>A (p.Pro1532His)
c.4412C>A (p.Pro1471His)
c.4271C>A (p.Pro1424His)
2g.86030381G>ACA347545674POLR1Ac.4594C>T (p.Pro1532Ser)
c.4411C>T (p.Pro1471Ser)
c.4270C>T (p.Pro1424Ser)
2g.86030381G>CCA347545676POLR1Ac.4594C>G (p.Pro1532Ala)
c.4411C>G (p.Pro1471Ala)
c.4270C>G (p.Pro1424Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.86030381G=CA1267041355POLR1Ac.4594C= (p.Pro1532=)
c.4411C= (p.Pro1471=)
c.4270C= (p.Pro1424=)
2g.86030381G>TCA347545678POLR1Ac.4594C>A (p.Pro1532Thr)
c.4411C>A (p.Pro1471Thr)
c.4270C>A (p.Pro1424Thr)
2g.86030382G>ACA427147222POLR1Ac.4593C>T (p.Leu1531=)
c.4410C>T (p.Leu1470=)
c.4269C>T (p.Leu1423=)
 COSMIC
2g.86030382G>CCA427147223POLR1Ac.4593C>G (p.Leu1531=)
c.4410C>G (p.Leu1470=)
c.4269C>G (p.Leu1423=)
2g.86030382G>TCA427147224POLR1Ac.4593C>A (p.Leu1531=)
c.4410C>A (p.Leu1470=)
c.4269C>A (p.Leu1423=)
2g.86030383A=CA1267041356POLR1Ac.4592T= (p.Leu1531=)
c.4409T= (p.Leu1470=)
c.4268T= (p.Leu1423=)
2g.86030383A>CCA1745449POLR1Ac.4592T>G (p.Leu1531Arg)
c.4409T>G (p.Leu1470Arg)
c.4268T>G (p.Leu1423Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.86030383A>GCA347545680POLR1Ac.4592T>C (p.Leu1531Pro)
c.4409T>C (p.Leu1470Pro)
c.4268T>C (p.Leu1423Pro)
2g.86030383A>TCA347545682POLR1Ac.4592T>A (p.Leu1531His)
c.4409T>A (p.Leu1470His)
c.4268T>A (p.Leu1423His)
2g.86030384G>ACA347545687POLR1Ac.4591C>T (p.Leu1531Phe)
c.4408C>T (p.Leu1470Phe)
c.4267C>T (p.Leu1423Phe)
2g.86030384G>CCA347545686POLR1Ac.4591C>G (p.Leu1531Val)
c.4408C>G (p.Leu1470Val)
c.4267C>G (p.Leu1423Val)
2g.86030384G>TCA347545684POLR1Ac.4591C>A (p.Leu1531Ile)
c.4408C>A (p.Leu1470Ile)
c.4267C>A (p.Leu1423Ile)
2g.86030385C>ACA347545689POLR1Ac.4590G>T (p.Lys1530Asn)
c.4407G>T (p.Lys1469Asn)
c.4266G>T (p.Lys1422Asn)
2g.86030385C=CA1267041357POLR1Ac.4590G= (p.Lys1530=)
c.4407G= (p.Lys1469=)
c.4266G= (p.Lys1422=)
2g.86030385C>GCA347545690POLR1Ac.4590G>C (p.Lys1530Asn)
c.4407G>C (p.Lys1469Asn)
c.4266G>C (p.Lys1422Asn)
2g.86030385C>TCA1745450POLR1Ac.4590G>A (p.Lys1530=)
c.4407G>A (p.Lys1469=)
c.4266G>A (p.Lys1422=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.86030386T>ACA347545693POLR1Ac.4589A>T (p.Lys1530Met)
c.4406A>T (p.Lys1469Met)
c.4265A>T (p.Lys1422Met)
2g.86030386T>CCA347545695POLR1Ac.4589A>G (p.Lys1530Arg)
c.4406A>G (p.Lys1469Arg)
c.4265A>G (p.Lys1422Arg)
2g.86030386T>GCA347545696POLR1Ac.4589A>C (p.Lys1530Thr)
c.4406A>C (p.Lys1469Thr)
c.4265A>C (p.Lys1422Thr)
2g.86030387T>ACA347545699POLR1Ac.4588A>T (p.Lys1530Ter)
c.4405A>T (p.Lys1469Ter)
c.4264A>T (p.Lys1422Ter)
2g.86030387T>CCA347545701POLR1Ac.4588A>G (p.Lys1530Glu)
c.4405A>G (p.Lys1469Glu)
c.4264A>G (p.Lys1422Glu)
2g.86030387T>GCA347545702POLR1Ac.4588A>C (p.Lys1530Gln)
c.4405A>C (p.Lys1469Gln)
c.4264A>C (p.Lys1422Gln)
2g.86030388C>ACA427147232POLR1Ac.4587G>T (p.Val1529=)
c.4404G>T (p.Val1468=)
c.4263G>T (p.Val1421=)
2g.86030388C>GCA427147233POLR1Ac.4587G>C (p.Val1529=)
c.4404G>C (p.Val1468=)
c.4263G>C (p.Val1421=)
2g.86030388C>TCA427147231POLR1Ac.4587G>A (p.Val1529=)
c.4404G>A (p.Val1468=)
c.4263G>A (p.Val1421=)
 gnomAD v4
2g.86030389A>CCA347545703POLR1Ac.4586T>G (p.Val1529Gly)
c.4403T>G (p.Val1468Gly)
c.4262T>G (p.Val1421Gly)
2g.86030389A>GCA347545705POLR1Ac.4586T>C (p.Val1529Ala)
c.4403T>C (p.Val1468Ala)
c.4262T>C (p.Val1421Ala)
2g.86030389A>TCA347545706POLR1Ac.4586T>A (p.Val1529Glu)
c.4403T>A (p.Val1468Glu)
c.4262T>A (p.Val1421Glu)
2g.86030390C>ACA347545709POLR1Ac.4585G>T (p.Val1529Leu)
c.4402G>T (p.Val1468Leu)
c.4261G>T (p.Val1421Leu)
2g.86030390C=CA1267041358POLR1Ac.4585G= (p.Val1529=)
c.4402G= (p.Val1468=)
c.4261G= (p.Val1421=)
2g.86030390C>GCA347545711POLR1Ac.4585G>C (p.Val1529Leu)
c.4402G>C (p.Val1468Leu)
c.4261G>C (p.Val1421Leu)
2g.86030390C>TCA1745451POLR1Ac.4585G>A (p.Val1529Met)
c.4402G>A (p.Val1468Met)
c.4261G>A (p.Val1421Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030391T>ACA427147236POLR1Ac.4584A>T (p.Thr1528=)
c.4401A>T (p.Thr1467=)
c.4260A>T (p.Thr1420=)
2g.86030391T>CCA427147237POLR1Ac.4584A>G (p.Thr1528=)
c.4401A>G (p.Thr1467=)
c.4260A>G (p.Thr1420=)
2g.86030391T>GCA427147238POLR1Ac.4584A>C (p.Thr1528=)
c.4401A>C (p.Thr1467=)
c.4260A>C (p.Thr1420=)
2g.86030392G>ACA347545714POLR1Ac.4583C>T (p.Thr1528Ile)
c.4400C>T (p.Thr1467Ile)
c.4259C>T (p.Thr1420Ile)
2g.86030392G>CCA1745452POLR1Ac.4583C>G (p.Thr1528Arg)
c.4400C>G (p.Thr1467Arg)
c.4259C>G (p.Thr1420Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.86030392G=CA1267041359POLR1Ac.4583C= (p.Thr1528=)
c.4400C= (p.Thr1467=)
c.4259C= (p.Thr1420=)
2g.86030392G>TCA347545716POLR1Ac.4583C>A (p.Thr1528Lys)
c.4400C>A (p.Thr1467Lys)
c.4259C>A (p.Thr1420Lys)
2g.86030393T>ACA347545717POLR1Ac.4582A>T (p.Thr1528Ser)
c.4399A>T (p.Thr1467Ser)
c.4258A>T (p.Thr1420Ser)
2g.86030393T>CCA347545718POLR1Ac.4582A>G (p.Thr1528Ala)
c.4399A>G (p.Thr1467Ala)
c.4258A>G (p.Thr1420Ala)
2g.86030393T>GCA347545721POLR1Ac.4582A>C (p.Thr1528Pro)
c.4399A>C (p.Thr1467Pro)
c.4258A>C (p.Thr1420Pro)
2g.86030394C>ACA427147240POLR1Ac.4581G>T (p.Val1527=)
c.4398G>T (p.Val1466=)
c.4257G>T (p.Val1419=)
2g.86030394C>GCA427147241POLR1Ac.4581G>C (p.Val1527=)
c.4398G>C (p.Val1466=)
c.4257G>C (p.Val1419=)
2g.86030394C>TCA427147242POLR1Ac.4581G>A (p.Val1527=)
c.4398G>A (p.Val1466=)
c.4257G>A (p.Val1419=)
2g.86030395A>CCA347545723POLR1Ac.4580T>G (p.Val1527Gly)
c.4397T>G (p.Val1466Gly)
c.4256T>G (p.Val1419Gly)
2g.86030395A>GCA347545725POLR1Ac.4580T>C (p.Val1527Ala)
c.4397T>C (p.Val1466Ala)
c.4256T>C (p.Val1419Ala)
 gnomAD v4
2g.86030395A>TCA347545727POLR1Ac.4580T>A (p.Val1527Glu)
c.4397T>A (p.Val1466Glu)
c.4256T>A (p.Val1419Glu)
2g.86030396C>ACA347545729POLR1Ac.4579G>T (p.Val1527Leu)
c.4396G>T (p.Val1466Leu)
c.4255G>T (p.Val1419Leu)
2g.86030396C=CA1267041360POLR1Ac.4579G= (p.Val1527=)
c.4396G= (p.Val1466=)
c.4255G= (p.Val1419=)
2g.86030396C>GCA1745453POLR1Ac.4579G>C (p.Val1527Leu)
c.4396G>C (p.Val1466Leu)
c.4255G>C (p.Val1419Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.86030396C>TCA347545732POLR1Ac.4579G>A (p.Val1527Met)
c.4396G>A (p.Val1466Met)
c.4255G>A (p.Val1419Met)
 dbSNP gnomAD v4
2g.86030396_86030397insGTGTTTCAGATAATAACA1267041361POLR1Ac.4579-1_4579insTTATTATCTGAAACAC (n.4579-1_4579insTTATTATCTGAAACAC)
c.4396-1_4396insTTATTATCTGAAACAC (n.4396-1_4396insTTATTATCTGAAACAC)
c.4255-1_4255insTTATTATCTGAAACAC (n.4255-1_4255insTTATTATCTGAAACAC)
 dbSNP
2g.86030397C>ACA347545736POLR1Ac.4579-1G>T (n.4579-1G>T)
c.4396-1G>T (n.4396-1G>T)
c.4255-1G>T (n.4255-1G>T)
2g.86030397C>GCA347545738POLR1Ac.4579-1G>C (n.4579-1G>C)
c.4396-1G>C (n.4396-1G>C)
c.4255-1G>C (n.4255-1G>C)
2g.86030397C>TCA347545735POLR1Ac.4579-1G>A (n.4579-1G>A)
c.4396-1G>A (n.4396-1G>A)
c.4255-1G>A (n.4255-1G>A)
2g.86030398T>ACA347545739POLR1Ac.4579-2A>T (n.4579-2A>T)
c.4396-2A>T (n.4396-2A>T)
c.4255-2A>T (n.4255-2A>T)
2g.86030398T>CCA347545740POLR1Ac.4579-2A>G (n.4579-2A>G)
c.4396-2A>G (n.4396-2A>G)
c.4255-2A>G (n.4255-2A>G)
 gnomAD v4
2g.86030398T>GCA347545742POLR1Ac.4579-2A>C (n.4579-2A>C)
c.4396-2A>C (n.4396-2A>C)
c.4255-2A>C (n.4255-2A>C)
2g.86030398T=CA1267041362POLR1Ac.4579-2A= (n.4579-2A=)
c.4396-2A= (n.4396-2A=)
c.4255-2A= (n.4255-2A=)
2g.86030398_86030399insTCCAGCA1267041363POLR1Ac.4579-3_4579-2insCTGGA (n.4579-3_4579-2insCTGGA)
c.4396-3_4396-2insCTGGA (n.4396-3_4396-2insCTGGA)
c.4255-3_4255-2insCTGGA (n.4255-3_4255-2insCTGGA)
 dbSNP
2g.86030399G>ACA2659905225POLR1Ac.4579-3C>T (n.4579-3C>T)
c.4396-3C>T (n.4396-3C>T)
c.4255-3C>T (n.4255-3C>T)
 gnomAD v4
2g.86030399G>TCA2659905226POLR1Ac.4579-3C>A (n.4579-3C>A)
c.4396-3C>A (n.4396-3C>A)
c.4255-3C>A (n.4255-3C>A)
 gnomAD v4

Number of alleles fetched