Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched