Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.44230332G>ACA3831575POLR1C,SLC29A1c.455-15G>A (n.455-15G>A)
n.838G>A
n.858G>A
c.398-15G>A (n.398-15G>A)
c.162-35G>A
n.629G>A
c.692-15G>A (n.692-15G>A)
c.581-15G>A (n.581-15G>A)
c.533-15G>A (n.533-15G>A)
c.530-15G>A (n.530-15G>A)
c.584-15G>A (n.584-15G>A)
c.695-15G>A (n.695-15G>A)
c.946-211558G>A (n.946-211558G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44230332G=CA1624908149POLR1C,SLC29A1c.455-15G= (n.455-15G=)
n.838G=
n.858G=
c.398-15G= (n.398-15G=)
c.162-35G=
n.629G=
c.692-15G= (n.692-15G=)
c.581-15G= (n.581-15G=)
c.533-15G= (n.533-15G=)
c.530-15G= (n.530-15G=)
c.584-15G= (n.584-15G=)
c.695-15G= (n.695-15G=)
c.946-211558G= (n.946-211558G=)
6g.44230332G>TCA3831576POLR1C,SLC29A1c.455-15G>T (n.455-15G>T)
n.838G>T
n.858G>T
c.398-15G>T (n.398-15G>T)
c.162-35G>T
n.629G>T
c.692-15G>T (n.692-15G>T)
c.581-15G>T (n.581-15G>T)
c.533-15G>T (n.533-15G>T)
c.530-15G>T (n.530-15G>T)
c.584-15G>T (n.584-15G>T)
c.695-15G>T (n.695-15G>T)
c.946-211558G>T (n.946-211558G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.44230333C>ACA2578632029POLR1C,SLC29A1c.455-14C>A (n.455-14C>A)
n.839C>A
n.859C>A
c.398-14C>A (n.398-14C>A)
c.162-34C>A
n.630C>A
c.692-14C>A (n.692-14C>A)
c.581-14C>A (n.581-14C>A)
c.533-14C>A (n.533-14C>A)
c.530-14C>A (n.530-14C>A)
c.584-14C>A (n.584-14C>A)
c.695-14C>A (n.695-14C>A)
c.946-211557C>A (n.946-211557C>A)
 gnomAD v4
6g.44230333C=CA1624908154POLR1C,SLC29A1c.455-14C= (n.455-14C=)
n.839C=
n.859C=
c.398-14C= (n.398-14C=)
c.162-34C=
n.630C=
c.692-14C= (n.692-14C=)
c.581-14C= (n.581-14C=)
c.533-14C= (n.533-14C=)
c.530-14C= (n.530-14C=)
c.584-14C= (n.584-14C=)
c.695-14C= (n.695-14C=)
c.946-211557C= (n.946-211557C=)
6g.44230333C>TCA824997139POLR1C,SLC29A1c.455-14C>T (n.455-14C>T)
n.839C>T
n.859C>T
c.398-14C>T (n.398-14C>T)
c.162-34C>T
n.630C>T
c.692-14C>T (n.692-14C>T)
c.581-14C>T (n.581-14C>T)
c.533-14C>T (n.533-14C>T)
c.530-14C>T (n.530-14C>T)
c.584-14C>T (n.584-14C>T)
c.695-14C>T (n.695-14C>T)
c.946-211557C>T (n.946-211557C>T)
 dbSNP gnomAD v3 gnomAD v4
6g.44230336T>CCA2578632030POLR1C,SLC29A1c.455-11T>C (n.455-11T>C)
n.842T>C
n.862T>C
c.398-11T>C (n.398-11T>C)
c.162-31T>C
n.633T>C
c.692-11T>C (n.692-11T>C)
c.581-11T>C (n.581-11T>C)
c.533-11T>C (n.533-11T>C)
c.530-11T>C (n.530-11T>C)
c.584-11T>C (n.584-11T>C)
c.695-11T>C (n.695-11T>C)
c.946-211554T>C (n.946-211554T>C)
6g.44230337G>ACA2678935181POLR1C,SLC29A1c.455-10G>A (n.455-10G>A)
n.843G>A
n.863G>A
c.398-10G>A (n.398-10G>A)
c.162-30G>A
n.634G>A
c.692-10G>A (n.692-10G>A)
c.581-10G>A (n.581-10G>A)
c.533-10G>A (n.533-10G>A)
c.530-10G>A (n.530-10G>A)
c.584-10G>A (n.584-10G>A)
c.695-10G>A (n.695-10G>A)
c.946-211553G>A (n.946-211553G>A)
 gnomAD v4
6g.44230341C>ACA2770867110POLR1C,SLC29A1c.455-6C>A (n.455-6C>A)
n.847C>A
n.867C>A
c.398-6C>A (n.398-6C>A)
c.162-26C>A
n.638C>A
c.692-6C>A (n.692-6C>A)
c.581-6C>A (n.581-6C>A)
c.533-6C>A (n.533-6C>A)
c.530-6C>A (n.530-6C>A)
c.584-6C>A (n.584-6C>A)
c.695-6C>A (n.695-6C>A)
c.946-211549C>A (n.946-211549C>A)
6g.44230343C=CA1624908157POLR1C,SLC29A1c.455-4C= (n.455-4C=)
n.849C=
n.869C=
c.398-4C= (n.398-4C=)
c.162-24C=
n.640C=
c.692-4C= (n.692-4C=)
c.581-4C= (n.581-4C=)
c.533-4C= (n.533-4C=)
c.530-4C= (n.530-4C=)
c.584-4C= (n.584-4C=)
c.695-4C= (n.695-4C=)
c.946-211547C= (n.946-211547C=)
6g.44230343C>GCA824997140POLR1C,SLC29A1c.455-4C>G (n.455-4C>G)
n.849C>G
n.869C>G
c.398-4C>G (n.398-4C>G)
c.162-24C>G
n.640C>G
c.692-4C>G (n.692-4C>G)
c.581-4C>G (n.581-4C>G)
c.533-4C>G (n.533-4C>G)
c.530-4C>G (n.530-4C>G)
c.584-4C>G (n.584-4C>G)
c.695-4C>G (n.695-4C>G)
c.946-211547C>G (n.946-211547C>G)
 dbSNP gnomAD v3 gnomAD v4
6g.44230343C>TCA2678935182POLR1C,SLC29A1c.455-4C>T (n.455-4C>T)
n.849C>T
n.869C>T
c.398-4C>T (n.398-4C>T)
c.162-24C>T
n.640C>T
c.692-4C>T (n.692-4C>T)
c.581-4C>T (n.581-4C>T)
c.533-4C>T (n.533-4C>T)
c.530-4C>T (n.530-4C>T)
c.584-4C>T (n.584-4C>T)
c.695-4C>T (n.695-4C>T)
c.946-211547C>T (n.946-211547C>T)
 gnomAD v4
6g.44230344C=CA1624908159POLR1C,SLC29A1c.455-3C= (n.455-3C=)
n.850C=
n.870C=
c.398-3C= (n.398-3C=)
c.162-23C=
n.641C=
c.692-3C= (n.692-3C=)
c.581-3C= (n.581-3C=)
c.533-3C= (n.533-3C=)
c.530-3C= (n.530-3C=)
c.584-3C= (n.584-3C=)
c.695-3C= (n.695-3C=)
c.946-211546C= (n.946-211546C=)
6g.44230344C>TCA567154224POLR1C,SLC29A1c.455-3C>T (n.455-3C>T)
n.850C>T
n.870C>T
c.398-3C>T (n.398-3C>T)
c.162-23C>T
n.641C>T
c.692-3C>T (n.692-3C>T)
c.581-3C>T (n.581-3C>T)
c.533-3C>T (n.533-3C>T)
c.530-3C>T (n.530-3C>T)
c.584-3C>T (n.584-3C>T)
c.695-3C>T (n.695-3C>T)
c.946-211546C>T (n.946-211546C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.44230345A>CCA364306015POLR1C,SLC29A1c.455-2A>C (n.455-2A>C)
n.851A>C
n.871A>C
c.398-2A>C (n.398-2A>C)
c.162-22A>C
n.642A>C
c.692-2A>C (n.692-2A>C)
c.581-2A>C (n.581-2A>C)
c.533-2A>C (n.533-2A>C)
c.530-2A>C (n.530-2A>C)
c.584-2A>C (n.584-2A>C)
c.695-2A>C (n.695-2A>C)
c.946-211545A>C (n.946-211545A>C)
6g.44230345A>GCA364306016POLR1C,SLC29A1c.455-2A>G (n.455-2A>G)
n.851A>G
n.871A>G
c.398-2A>G (n.398-2A>G)
c.162-22A>G
n.642A>G
c.692-2A>G (n.692-2A>G)
c.581-2A>G (n.581-2A>G)
c.533-2A>G (n.533-2A>G)
c.530-2A>G (n.530-2A>G)
c.584-2A>G (n.584-2A>G)
c.695-2A>G (n.695-2A>G)
c.946-211545A>G (n.946-211545A>G)
6g.44230345A>TCA364306017POLR1C,SLC29A1c.455-2A>T (n.455-2A>T)
n.851A>T
n.871A>T
c.398-2A>T (n.398-2A>T)
c.162-22A>T
n.642A>T
c.692-2A>T (n.692-2A>T)
c.581-2A>T (n.581-2A>T)
c.533-2A>T (n.533-2A>T)
c.530-2A>T (n.530-2A>T)
c.584-2A>T (n.584-2A>T)
c.695-2A>T (n.695-2A>T)
c.946-211545A>T (n.946-211545A>T)
6g.44230346G>ACA364306018POLR1C,SLC29A1c.455-1G>A (n.455-1G>A)
n.852G>A
n.872G>A
c.398-1G>A (n.398-1G>A)
c.162-21G>A
n.643G>A
c.692-1G>A (n.692-1G>A)
c.581-1G>A (n.581-1G>A)
c.533-1G>A (n.533-1G>A)
c.530-1G>A (n.530-1G>A)
c.584-1G>A (n.584-1G>A)
c.695-1G>A (n.695-1G>A)
c.946-211544G>A (n.946-211544G>A)
 gnomAD v4
6g.44230346G>CCA364306019POLR1C,SLC29A1c.455-1G>C (n.455-1G>C)
n.852G>C
n.872G>C
c.398-1G>C (n.398-1G>C)
c.162-21G>C
n.643G>C
c.692-1G>C (n.692-1G>C)
c.581-1G>C (n.581-1G>C)
c.533-1G>C (n.533-1G>C)
c.530-1G>C (n.530-1G>C)
c.584-1G>C (n.584-1G>C)
c.695-1G>C (n.695-1G>C)
c.946-211544G>C (n.946-211544G>C)
6g.44230346G>TCA364306020POLR1C,SLC29A1c.455-1G>T (n.455-1G>T)
n.852G>T
n.872G>T
c.398-1G>T (n.398-1G>T)
c.162-21G>T
n.643G>T
c.692-1G>T (n.692-1G>T)
c.581-1G>T (n.581-1G>T)
c.533-1G>T (n.533-1G>T)
c.530-1G>T (n.530-1G>T)
c.584-1G>T (n.584-1G>T)
c.695-1G>T (n.695-1G>T)
c.946-211544G>T (n.946-211544G>T)
6g.44230347C>ACA364306021POLR1C,SLC29A1c.455C>A (p.Ser152Ter)
n.853C>A
n.873C>A
c.398C>A (p.Ser133Ter)
c.162-20C>A
n.644C>A
c.692C>A (p.Ser231Ter)
c.581C>A (p.Ser194Ter)
c.533C>A (p.Ser178Ter)
c.530C>A (p.Ser177Ter)
c.584C>A (p.Ser195Ter)
c.695C>A (p.Ser232Ter)
c.946-211543C>A (n.946-211543C>A)
6g.44230347C>GCA364306022POLR1C,SLC29A1c.455C>G (p.Ser152Ter)
n.853C>G
n.873C>G
c.398C>G (p.Ser133Ter)
c.162-20C>G
n.644C>G
c.692C>G (p.Ser231Ter)
c.581C>G (p.Ser194Ter)
c.533C>G (p.Ser178Ter)
c.530C>G (p.Ser177Ter)
c.584C>G (p.Ser195Ter)
c.695C>G (p.Ser232Ter)
c.946-211543C>G (n.946-211543C>G)
6g.44230347C>TCA364306023POLR1C,SLC29A1c.455C>T (p.Ser152Leu)
n.853C>T
n.873C>T
c.398C>T (p.Ser133Leu)
c.162-20C>T
n.644C>T
c.692C>T (p.Ser231Leu)
c.581C>T (p.Ser194Leu)
c.533C>T (p.Ser178Leu)
c.530C>T (p.Ser177Leu)
c.584C>T (p.Ser195Leu)
c.695C>T (p.Ser232Leu)
c.946-211543C>T (n.946-211543C>T)
6g.44230348A>CCA450308350POLR1C,SLC29A1c.456A>C (p.Ser152=)
n.854A>C
n.874A>C
c.399A>C (p.Ser133=)
c.162-19A>C
n.645A>C
c.693A>C (p.Ser231=)
c.582A>C (p.Ser194=)
c.534A>C (p.Ser178=)
c.531A>C (p.Ser177=)
c.585A>C (p.Ser195=)
c.696A>C (p.Ser232=)
c.946-211542A>C (n.946-211542A>C)
 gnomAD v4
6g.44230348A>GCA450308352POLR1C,SLC29A1c.456A>G (p.Ser152=)
n.854A>G
n.874A>G
c.399A>G (p.Ser133=)
c.162-19A>G
n.645A>G
c.693A>G (p.Ser231=)
c.582A>G (p.Ser194=)
c.534A>G (p.Ser178=)
c.531A>G (p.Ser177=)
c.585A>G (p.Ser195=)
c.696A>G (p.Ser232=)
c.946-211542A>G (n.946-211542A>G)
6g.44230348A>TCA450308351POLR1C,SLC29A1c.456A>T (p.Ser152=)
n.854A>T
n.874A>T
c.399A>T (p.Ser133=)
c.162-19A>T
n.645A>T
c.693A>T (p.Ser231=)
c.582A>T (p.Ser194=)
c.534A>T (p.Ser178=)
c.531A>T (p.Ser177=)
c.585A>T (p.Ser195=)
c.696A>T (p.Ser232=)
c.946-211542A>T (n.946-211542A>T)
6g.44230349T>ACA364306024POLR1C,SLC29A1c.457T>A (p.Phe153Ile)
n.855T>A
n.875T>A
c.400T>A (p.Phe134Ile)
c.162-18T>A
n.646T>A
c.694T>A (p.Phe232Ile)
c.583T>A (p.Phe195Ile)
c.535T>A (p.Phe179Ile)
c.532T>A (p.Phe178Ile)
c.586T>A (p.Phe196Ile)
c.697T>A (p.Phe233Ile)
c.946-211541T>A (n.946-211541T>A)
6g.44230349T>CCA364306026POLR1C,SLC29A1c.457T>C (p.Phe153Leu)
n.855T>C
n.875T>C
c.400T>C (p.Phe134Leu)
c.162-18T>C
n.646T>C
c.694T>C (p.Phe232Leu)
c.583T>C (p.Phe195Leu)
c.535T>C (p.Phe179Leu)
c.532T>C (p.Phe178Leu)
c.586T>C (p.Phe196Leu)
c.697T>C (p.Phe233Leu)
c.946-211541T>C (n.946-211541T>C)
6g.44230349T>GCA364306025POLR1C,SLC29A1c.457T>G (p.Phe153Val)
n.855T>G
n.875T>G
c.400T>G (p.Phe134Val)
c.162-18T>G
n.646T>G
c.694T>G (p.Phe232Val)
c.583T>G (p.Phe195Val)
c.535T>G (p.Phe179Val)
c.532T>G (p.Phe178Val)
c.586T>G (p.Phe196Val)
c.697T>G (p.Phe233Val)
c.946-211541T>G (n.946-211541T>G)
6g.44230351delCA2678935183POLR1C,SLC29A1c.459del (p.Phe153LeufsTer25)
n.857del
n.877del
c.402del (p.Phe134LeufsTer25)
c.162-16del
c.459del (p.Phe153LeufsTer?)
n.648del
c.696del (p.Phe232LeufsTer25)
c.585del (p.Phe195LeufsTer25)
c.537del (p.Phe179LeufsTer25)
c.534del (p.Phe178LeufsTer25)
c.588del (p.Phe196LeufsTer25)
c.699del (p.Phe233LeufsTer25)
c.946-211539del (n.946-211539del)
 gnomAD v4
6g.44230350T>ACA364306027POLR1C,SLC29A1c.458T>A (p.Phe153Tyr)
n.856T>A
n.876T>A
c.401T>A (p.Phe134Tyr)
c.162-17T>A
n.647T>A
c.695T>A (p.Phe232Tyr)
c.584T>A (p.Phe195Tyr)
c.536T>A (p.Phe179Tyr)
c.533T>A (p.Phe178Tyr)
c.587T>A (p.Phe196Tyr)
c.698T>A (p.Phe233Tyr)
c.946-211540T>A (n.946-211540T>A)
6g.44230350T>CCA364306029POLR1C,SLC29A1c.458T>C (p.Phe153Ser)
n.856T>C
n.876T>C
c.401T>C (p.Phe134Ser)
c.162-17T>C
n.647T>C
c.695T>C (p.Phe232Ser)
c.584T>C (p.Phe195Ser)
c.536T>C (p.Phe179Ser)
c.533T>C (p.Phe178Ser)
c.587T>C (p.Phe196Ser)
c.698T>C (p.Phe233Ser)
c.946-211540T>C (n.946-211540T>C)
6g.44230350T>GCA364306028POLR1C,SLC29A1c.458T>G (p.Phe153Cys)
n.856T>G
n.876T>G
c.401T>G (p.Phe134Cys)
c.162-17T>G
n.647T>G
c.695T>G (p.Phe232Cys)
c.584T>G (p.Phe195Cys)
c.536T>G (p.Phe179Cys)
c.533T>G (p.Phe178Cys)
c.587T>G (p.Phe196Cys)
c.698T>G (p.Phe233Cys)
c.946-211540T>G (n.946-211540T>G)
6g.44230351T>ACA364306030POLR1C,SLC29A1c.459T>A (p.Phe153Leu)
n.857T>A
n.877T>A
c.402T>A (p.Phe134Leu)
c.162-16T>A
n.648T>A
c.696T>A (p.Phe232Leu)
c.585T>A (p.Phe195Leu)
c.537T>A (p.Phe179Leu)
c.534T>A (p.Phe178Leu)
c.588T>A (p.Phe196Leu)
c.699T>A (p.Phe233Leu)
c.946-211539T>A (n.946-211539T>A)
6g.44230351T>CCA450308353POLR1C,SLC29A1c.459T>C (p.Phe153=)
n.857T>C
n.877T>C
c.402T>C (p.Phe134=)
c.162-16T>C
n.648T>C
c.696T>C (p.Phe232=)
c.585T>C (p.Phe195=)
c.537T>C (p.Phe179=)
c.534T>C (p.Phe178=)
c.588T>C (p.Phe196=)
c.699T>C (p.Phe233=)
c.946-211539T>C (n.946-211539T>C)
6g.44230351T>GCA364306031POLR1C,SLC29A1c.459T>G (p.Phe153Leu)
n.857T>G
n.877T>G
c.402T>G (p.Phe134Leu)
c.162-16T>G
n.648T>G
c.696T>G (p.Phe232Leu)
c.585T>G (p.Phe195Leu)
c.537T>G (p.Phe179Leu)
c.534T>G (p.Phe178Leu)
c.588T>G (p.Phe196Leu)
c.699T>G (p.Phe233Leu)
c.946-211539T>G (n.946-211539T>G)
6g.44230352G>ACA364306032POLR1C,SLC29A1c.460G>A (p.Gly154Ser)
n.858G>A
n.878G>A
c.403G>A (p.Gly135Ser)
c.162-15G>A
n.649G>A
c.697G>A (p.Gly233Ser)
c.586G>A (p.Gly196Ser)
c.538G>A (p.Gly180Ser)
c.535G>A (p.Gly179Ser)
c.589G>A (p.Gly197Ser)
c.700G>A (p.Gly234Ser)
c.946-211538G>A (n.946-211538G>A)
6g.44230352G>CCA364306033POLR1C,SLC29A1c.460G>C (p.Gly154Arg)
n.858G>C
n.878G>C
c.403G>C (p.Gly135Arg)
c.162-15G>C
n.649G>C
c.697G>C (p.Gly233Arg)
c.586G>C (p.Gly196Arg)
c.538G>C (p.Gly180Arg)
c.535G>C (p.Gly179Arg)
c.589G>C (p.Gly197Arg)
c.700G>C (p.Gly234Arg)
c.946-211538G>C (n.946-211538G>C)
6g.44230352G>TCA364306034POLR1C,SLC29A1c.460G>T (p.Gly154Cys)
n.858G>T
n.878G>T
c.403G>T (p.Gly135Cys)
c.162-15G>T
n.649G>T
c.697G>T (p.Gly233Cys)
c.586G>T (p.Gly196Cys)
c.538G>T (p.Gly180Cys)
c.535G>T (p.Gly179Cys)
c.589G>T (p.Gly197Cys)
c.700G>T (p.Gly234Cys)
c.946-211538G>T (n.946-211538G>T)
6g.44230353G>ACA3831577POLR1C,SLC29A1c.461G>A (p.Gly154Asp)
n.859G>A
n.879G>A
c.404G>A (p.Gly135Asp)
c.162-14G>A
n.650G>A
c.698G>A (p.Gly233Asp)
c.587G>A (p.Gly196Asp)
c.539G>A (p.Gly180Asp)
c.536G>A (p.Gly179Asp)
c.590G>A (p.Gly197Asp)
c.701G>A (p.Gly234Asp)
c.946-211537G>A (n.946-211537G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44230353G>CCA364306035POLR1C,SLC29A1c.461G>C (p.Gly154Ala)
n.859G>C
n.879G>C
c.404G>C (p.Gly135Ala)
c.162-14G>C
n.650G>C
c.698G>C (p.Gly233Ala)
c.587G>C (p.Gly196Ala)
c.539G>C (p.Gly180Ala)
c.536G>C (p.Gly179Ala)
c.590G>C (p.Gly197Ala)
c.701G>C (p.Gly234Ala)
c.946-211537G>C (n.946-211537G>C)
6g.44230353G=CA1624908164POLR1C,SLC29A1c.461G= (p.Gly154=)
n.859G=
n.879G=
c.404G= (p.Gly135=)
c.162-14G=
n.650G=
c.698G= (p.Gly233=)
c.587G= (p.Gly196=)
c.539G= (p.Gly180=)
c.536G= (p.Gly179=)
c.590G= (p.Gly197=)
c.701G= (p.Gly234=)
c.946-211537G= (n.946-211537G=)
6g.44230353G>TCA364306036POLR1C,SLC29A1c.461G>T (p.Gly154Val)
n.859G>T
n.879G>T
c.404G>T (p.Gly135Val)
c.162-14G>T
n.650G>T
c.698G>T (p.Gly233Val)
c.587G>T (p.Gly196Val)
c.539G>T (p.Gly180Val)
c.536G>T (p.Gly179Val)
c.590G>T (p.Gly197Val)
c.701G>T (p.Gly234Val)
c.946-211537G>T (n.946-211537G>T)
 gnomAD v4
6g.44230354T>ACA450308354POLR1C,SLC29A1c.462T>A (p.Gly154=)
n.860T>A
n.880T>A
c.405T>A (p.Gly135=)
c.162-13T>A
n.651T>A
c.699T>A (p.Gly233=)
c.588T>A (p.Gly196=)
c.540T>A (p.Gly180=)
c.537T>A (p.Gly179=)
c.591T>A (p.Gly197=)
c.702T>A (p.Gly234=)
c.946-211536T>A (n.946-211536T>A)
6g.44230354T>CCA450308355POLR1C,SLC29A1c.462T>C (p.Gly154=)
n.860T>C
n.880T>C
c.405T>C (p.Gly135=)
c.162-13T>C
n.651T>C
c.699T>C (p.Gly233=)
c.588T>C (p.Gly196=)
c.540T>C (p.Gly180=)
c.537T>C (p.Gly179=)
c.591T>C (p.Gly197=)
c.702T>C (p.Gly234=)
c.946-211536T>C (n.946-211536T>C)
 gnomAD v4
6g.44230354T>GCA450308356POLR1C,SLC29A1c.462T>G (p.Gly154=)
n.860T>G
n.880T>G
c.405T>G (p.Gly135=)
c.162-13T>G
n.651T>G
c.699T>G (p.Gly233=)
c.588T>G (p.Gly196=)
c.540T>G (p.Gly180=)
c.537T>G (p.Gly179=)
c.591T>G (p.Gly197=)
c.702T>G (p.Gly234=)
c.946-211536T>G (n.946-211536T>G)
 gnomAD v4
6g.44230355G>ACA364306037POLR1C,SLC29A1c.463G>A (p.Ala155Thr)
n.861G>A
n.881G>A
c.406G>A (p.Ala136Thr)
c.162-12G>A
n.652G>A
c.700G>A (p.Ala234Thr)
c.589G>A (p.Ala197Thr)
c.541G>A (p.Ala181Thr)
c.538G>A (p.Ala180Thr)
c.592G>A (p.Ala198Thr)
c.703G>A (p.Ala235Thr)
c.946-211535G>A (n.946-211535G>A)
 gnomAD v4
6g.44230355G>CCA364306038POLR1C,SLC29A1c.463G>C (p.Ala155Pro)
n.861G>C
n.881G>C
c.406G>C (p.Ala136Pro)
c.162-12G>C
n.652G>C
c.700G>C (p.Ala234Pro)
c.589G>C (p.Ala197Pro)
c.541G>C (p.Ala181Pro)
c.538G>C (p.Ala180Pro)
c.592G>C (p.Ala198Pro)
c.703G>C (p.Ala235Pro)
c.946-211535G>C (n.946-211535G>C)
6g.44230355G>TCA364306039POLR1C,SLC29A1c.463G>T (p.Ala155Ser)
n.861G>T
n.881G>T
c.406G>T (p.Ala136Ser)
c.162-12G>T
n.652G>T
c.700G>T (p.Ala234Ser)
c.589G>T (p.Ala197Ser)
c.541G>T (p.Ala181Ser)
c.538G>T (p.Ala180Ser)
c.592G>T (p.Ala198Ser)
c.703G>T (p.Ala235Ser)
c.946-211535G>T (n.946-211535G>T)
6g.44230356C>ACA364306042POLR1C,SLC29A1c.464C>A (p.Ala155Asp)
n.862C>A
n.882C>A
c.407C>A (p.Ala136Asp)
c.162-11C>A
n.653C>A
c.701C>A (p.Ala234Asp)
c.590C>A (p.Ala197Asp)
c.542C>A (p.Ala181Asp)
c.539C>A (p.Ala180Asp)
c.593C>A (p.Ala198Asp)
c.704C>A (p.Ala235Asp)
c.946-211534C>A (n.946-211534C>A)
 gnomAD v4
6g.44230356C>GCA364306041POLR1C,SLC29A1c.464C>G (p.Ala155Gly)
n.862C>G
n.882C>G
c.407C>G (p.Ala136Gly)
c.162-11C>G
n.653C>G
c.701C>G (p.Ala234Gly)
c.590C>G (p.Ala197Gly)
c.542C>G (p.Ala181Gly)
c.539C>G (p.Ala180Gly)
c.593C>G (p.Ala198Gly)
c.704C>G (p.Ala235Gly)
c.946-211534C>G (n.946-211534C>G)
6g.44230356C>TCA364306040POLR1C,SLC29A1c.464C>T (p.Ala155Val)
n.862C>T
n.882C>T
c.407C>T (p.Ala136Val)
c.162-11C>T
n.653C>T
c.701C>T (p.Ala234Val)
c.590C>T (p.Ala197Val)
c.542C>T (p.Ala181Val)
c.539C>T (p.Ala180Val)
c.593C>T (p.Ala198Val)
c.704C>T (p.Ala235Val)
c.946-211534C>T (n.946-211534C>T)
 gnomAD v4
6g.44230357C>ACA450308357POLR1C,SLC29A1c.465C>A (p.Ala155=)
n.863C>A
n.883C>A
c.408C>A (p.Ala136=)
c.162-10C>A
n.654C>A
c.702C>A (p.Ala234=)
c.591C>A (p.Ala197=)
c.543C>A (p.Ala181=)
c.540C>A (p.Ala180=)
c.594C>A (p.Ala198=)
c.705C>A (p.Ala235=)
c.946-211533C>A (n.946-211533C>A)
6g.44230357C>GCA450308358POLR1C,SLC29A1c.465C>G (p.Ala155=)
n.863C>G
n.883C>G
c.408C>G (p.Ala136=)
c.162-10C>G
n.654C>G
c.702C>G (p.Ala234=)
c.591C>G (p.Ala197=)
c.543C>G (p.Ala181=)
c.540C>G (p.Ala180=)
c.594C>G (p.Ala198=)
c.705C>G (p.Ala235=)
c.946-211533C>G (n.946-211533C>G)
6g.44230357C>TCA450308359POLR1C,SLC29A1c.465C>T (p.Ala155=)
n.863C>T
n.883C>T
c.408C>T (p.Ala136=)
c.162-10C>T
n.654C>T
c.702C>T (p.Ala234=)
c.591C>T (p.Ala197=)
c.543C>T (p.Ala181=)
c.540C>T (p.Ala180=)
c.594C>T (p.Ala198=)
c.705C>T (p.Ala235=)
c.946-211533C>T (n.946-211533C>T)
 gnomAD v4
6g.44230358A=CA1624908168POLR1C,SLC29A1c.466A= (p.Ile156=)
n.864A=
n.884A=
c.409A= (p.Ile137=)
c.162-9A=
n.655A=
c.703A= (p.Ile235=)
c.592A= (p.Ile198=)
c.544A= (p.Ile182=)
c.541A= (p.Ile181=)
c.595A= (p.Ile199=)
c.706A= (p.Ile236=)
c.946-211532A= (n.946-211532A=)
6g.44230358A>CCA364306043POLR1C,SLC29A1c.466A>C (p.Ile156Leu)
n.864A>C
n.884A>C
c.409A>C (p.Ile137Leu)
c.162-9A>C
n.655A>C
c.703A>C (p.Ile235Leu)
c.592A>C (p.Ile198Leu)
c.544A>C (p.Ile182Leu)
c.541A>C (p.Ile181Leu)
c.595A>C (p.Ile199Leu)
c.706A>C (p.Ile236Leu)
c.946-211532A>C (n.946-211532A>C)
6g.44230358A>GCA138375132POLR1C,SLC29A1c.466A>G (p.Ile156Val)
n.864A>G
n.884A>G
c.409A>G (p.Ile137Val)
c.162-9A>G
n.655A>G
c.703A>G (p.Ile235Val)
c.592A>G (p.Ile198Val)
c.544A>G (p.Ile182Val)
c.541A>G (p.Ile181Val)
c.595A>G (p.Ile199Val)
c.706A>G (p.Ile236Val)
c.946-211532A>G (n.946-211532A>G)
 dbSNP
6g.44230358A>TCA364306044POLR1C,SLC29A1c.466A>T (p.Ile156Phe)
n.864A>T
n.884A>T
c.409A>T (p.Ile137Phe)
c.162-9A>T
n.655A>T
c.703A>T (p.Ile235Phe)
c.592A>T (p.Ile198Phe)
c.544A>T (p.Ile182Phe)
c.541A>T (p.Ile181Phe)
c.595A>T (p.Ile199Phe)
c.706A>T (p.Ile236Phe)
c.946-211532A>T (n.946-211532A>T)
6g.44230359T>ACA364306045POLR1C,SLC29A1c.467T>A (p.Ile156Asn)
n.865T>A
n.885T>A
c.410T>A (p.Ile137Asn)
c.162-8T>A
n.656T>A
c.704T>A (p.Ile235Asn)
c.593T>A (p.Ile198Asn)
c.545T>A (p.Ile182Asn)
c.542T>A (p.Ile181Asn)
c.596T>A (p.Ile199Asn)
c.707T>A (p.Ile236Asn)
c.946-211531T>A (n.946-211531T>A)
6g.44230359T>CCA364306046POLR1C,SLC29A1c.467T>C (p.Ile156Thr)
n.865T>C
n.885T>C
c.410T>C (p.Ile137Thr)
c.162-8T>C
n.656T>C
c.704T>C (p.Ile235Thr)
c.593T>C (p.Ile198Thr)
c.545T>C (p.Ile182Thr)
c.542T>C (p.Ile181Thr)
c.596T>C (p.Ile199Thr)
c.707T>C (p.Ile236Thr)
c.946-211531T>C (n.946-211531T>C)
6g.44230359T>GCA364306047POLR1C,SLC29A1c.467T>G (p.Ile156Ser)
n.865T>G
n.885T>G
c.410T>G (p.Ile137Ser)
c.162-8T>G
n.656T>G
c.704T>G (p.Ile235Ser)
c.593T>G (p.Ile198Ser)
c.545T>G (p.Ile182Ser)
c.542T>G (p.Ile181Ser)
c.596T>G (p.Ile199Ser)
c.707T>G (p.Ile236Ser)
c.946-211531T>G (n.946-211531T>G)
6g.44230360C>ACA450308360POLR1C,SLC29A1c.468C>A (p.Ile156=)
n.866C>A
n.886C>A
c.411C>A (p.Ile137=)
c.162-7C>A
n.657C>A
c.705C>A (p.Ile235=)
c.594C>A (p.Ile198=)
c.546C>A (p.Ile182=)
c.543C>A (p.Ile181=)
c.597C>A (p.Ile199=)
c.708C>A (p.Ile236=)
c.946-211530C>A (n.946-211530C>A)
 gnomAD v4
6g.44230360C>GCA364306048POLR1C,SLC29A1c.468C>G (p.Ile156Met)
n.866C>G
n.886C>G
c.411C>G (p.Ile137Met)
c.162-7C>G
n.657C>G
c.705C>G (p.Ile235Met)
c.594C>G (p.Ile198Met)
c.546C>G (p.Ile182Met)
c.543C>G (p.Ile181Met)
c.597C>G (p.Ile199Met)
c.708C>G (p.Ile236Met)
c.946-211530C>G (n.946-211530C>G)
6g.44230360C>TCA450308361POLR1C,SLC29A1c.468C>T (p.Ile156=)
n.866C>T
n.886C>T
c.411C>T (p.Ile137=)
c.162-7C>T
n.657C>T
c.705C>T (p.Ile235=)
c.594C>T (p.Ile198=)
c.546C>T (p.Ile182=)
c.543C>T (p.Ile181=)
c.597C>T (p.Ile199=)
c.708C>T (p.Ile236=)
c.946-211530C>T (n.946-211530C>T)
6g.44230361C>ACA364306049POLR1C,SLC29A1c.469C>A (p.Leu157Met)
n.867C>A
n.887C>A
c.412C>A (p.Leu138Met)
c.162-6C>A
n.658C>A
c.706C>A (p.Leu236Met)
c.595C>A (p.Leu199Met)
c.547C>A (p.Leu183Met)
c.544C>A (p.Leu182Met)
c.598C>A (p.Leu200Met)
c.709C>A (p.Leu237Met)
c.946-211529C>A (n.946-211529C>A)
6g.44230361C>GCA364306050POLR1C,SLC29A1c.469C>G (p.Leu157Val)
n.867C>G
n.887C>G
c.412C>G (p.Leu138Val)
c.162-6C>G
n.658C>G
c.706C>G (p.Leu236Val)
c.595C>G (p.Leu199Val)
c.547C>G (p.Leu183Val)
c.544C>G (p.Leu182Val)
c.598C>G (p.Leu200Val)
c.709C>G (p.Leu237Val)
c.946-211529C>G (n.946-211529C>G)
6g.44230361C>TCA450308362POLR1C,SLC29A1c.469C>T (p.Leu157=)
n.867C>T
n.887C>T
c.412C>T (p.Leu138=)
c.162-6C>T
n.658C>T
c.706C>T (p.Leu236=)
c.595C>T (p.Leu199=)
c.547C>T (p.Leu183=)
c.544C>T (p.Leu182=)
c.598C>T (p.Leu200=)
c.709C>T (p.Leu237=)
c.946-211529C>T (n.946-211529C>T)
 gnomAD v4
6g.44230362T>ACA364306051POLR1C,SLC29A1c.470T>A (p.Leu157Gln)
n.868T>A
n.888T>A
c.413T>A (p.Leu138Gln)
c.162-5T>A
n.659T>A
c.707T>A (p.Leu236Gln)
c.596T>A (p.Leu199Gln)
c.548T>A (p.Leu183Gln)
c.545T>A (p.Leu182Gln)
c.599T>A (p.Leu200Gln)
c.710T>A (p.Leu237Gln)
c.946-211528T>A (n.946-211528T>A)
6g.44230362T>CCA364306052POLR1C,SLC29A1c.470T>C (p.Leu157Pro)
n.868T>C
n.888T>C
c.413T>C (p.Leu138Pro)
c.162-5T>C
n.659T>C
c.707T>C (p.Leu236Pro)
c.596T>C (p.Leu199Pro)
c.548T>C (p.Leu183Pro)
c.545T>C (p.Leu182Pro)
c.599T>C (p.Leu200Pro)
c.710T>C (p.Leu237Pro)
c.946-211528T>C (n.946-211528T>C)
 gnomAD v4
6g.44230362T>GCA364306053POLR1C,SLC29A1c.470T>G (p.Leu157Arg)
n.868T>G
n.888T>G
c.413T>G (p.Leu138Arg)
c.162-5T>G
n.659T>G
c.707T>G (p.Leu236Arg)
c.596T>G (p.Leu199Arg)
c.548T>G (p.Leu183Arg)
c.545T>G (p.Leu182Arg)
c.599T>G (p.Leu200Arg)
c.710T>G (p.Leu237Arg)
c.946-211528T>G (n.946-211528T>G)
6g.44230363G>ACA450308365POLR1C,SLC29A1c.471G>A (p.Leu157=)
n.869G>A
n.889G>A
c.414G>A (p.Leu138=)
c.162-4G>A
n.660G>A
c.708G>A (p.Leu236=)
c.597G>A (p.Leu199=)
c.549G>A (p.Leu183=)
c.546G>A (p.Leu182=)
c.600G>A (p.Leu200=)
c.711G>A (p.Leu237=)
c.946-211527G>A (n.946-211527G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.44230363G>CCA450308363POLR1C,SLC29A1c.471G>C (p.Leu157=)
n.869G>C
n.889G>C
c.414G>C (p.Leu138=)
c.162-4G>C
n.660G>C
c.708G>C (p.Leu236=)
c.597G>C (p.Leu199=)
c.549G>C (p.Leu183=)
c.546G>C (p.Leu182=)
c.600G>C (p.Leu200=)
c.711G>C (p.Leu237=)
c.946-211527G>C (n.946-211527G>C)
6g.44230363G=CA1624908174POLR1C,SLC29A1c.471G= (p.Leu157=)
n.869G=
n.889G=
c.414G= (p.Leu138=)
c.162-4G=
n.660G=
c.708G= (p.Leu236=)
c.597G= (p.Leu199=)
c.549G= (p.Leu183=)
c.546G= (p.Leu182=)
c.600G= (p.Leu200=)
c.711G= (p.Leu237=)
c.946-211527G= (n.946-211527G=)
6g.44230363G>TCA450308364POLR1C,SLC29A1c.471G>T (p.Leu157=)
n.869G>T
n.889G>T
c.414G>T (p.Leu138=)
c.162-4G>T
n.660G>T
c.708G>T (p.Leu236=)
c.597G>T (p.Leu199=)
c.549G>T (p.Leu183=)
c.546G>T (p.Leu182=)
c.600G>T (p.Leu200=)
c.711G>T (p.Leu237=)
c.946-211527G>T (n.946-211527G>T)
 dbSNP gnomAD v4
6g.44230364C>ACA364306055POLR1C,SLC29A1c.472C>A (p.Gln158Lys)
n.870C>A
n.890C>A
c.415C>A (p.Gln139Lys)
c.162-3C>A
n.661C>A
c.709C>A (p.Gln237Lys)
c.598C>A (p.Gln200Lys)
c.550C>A (p.Gln184Lys)
c.547C>A (p.Gln183Lys)
c.601C>A (p.Gln201Lys)
c.712C>A (p.Gln238Lys)
c.946-211526C>A (n.946-211526C>A)
6g.44230364C=CA1624908177POLR1C,SLC29A1c.472C= (p.Gln158=)
n.870C=
n.890C=
c.415C= (p.Gln139=)
c.162-3C=
n.661C=
c.709C= (p.Gln237=)
c.598C= (p.Gln200=)
c.550C= (p.Gln184=)
c.547C= (p.Gln183=)
c.601C= (p.Gln201=)
c.712C= (p.Gln238=)
c.946-211526C= (n.946-211526C=)
6g.44230364C>GCA364306054POLR1C,SLC29A1c.472C>G (p.Gln158Glu)
n.870C>G
n.890C>G
c.415C>G (p.Gln139Glu)
c.162-3C>G
n.661C>G
c.709C>G (p.Gln237Glu)
c.598C>G (p.Gln200Glu)
c.550C>G (p.Gln184Glu)
c.547C>G (p.Gln183Glu)
c.601C>G (p.Gln201Glu)
c.712C>G (p.Gln238Glu)
c.946-211526C>G (n.946-211526C>G)
6g.44230364C>TCA3831578POLR1C,SLC29A1c.472C>T (p.Gln158Ter)
n.870C>T
n.890C>T
c.415C>T (p.Gln139Ter)
c.162-3C>T
n.661C>T
c.709C>T (p.Gln237Ter)
c.598C>T (p.Gln200Ter)
c.550C>T (p.Gln184Ter)
c.547C>T (p.Gln183Ter)
c.601C>T (p.Gln201Ter)
c.712C>T (p.Gln238Ter)
c.946-211526C>T (n.946-211526C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.44230365A=CA1624908181POLR1C,SLC29A1c.473A= (p.Gln158=)
n.871A=
n.891A=
c.416A= (p.Gln139=)
c.162-2A=
n.662A=
c.710A= (p.Gln237=)
c.599A= (p.Gln200=)
c.551A= (p.Gln184=)
c.548A= (p.Gln183=)
c.602A= (p.Gln201=)
c.713A= (p.Gln238=)
c.946-211525A= (n.946-211525A=)
6g.44230365A>CCA364306056POLR1C,SLC29A1c.473A>C (p.Gln158Pro)
n.871A>C
n.891A>C
c.416A>C (p.Gln139Pro)
c.162-2A>C
n.662A>C
c.710A>C (p.Gln237Pro)
c.599A>C (p.Gln200Pro)
c.551A>C (p.Gln184Pro)
c.548A>C (p.Gln183Pro)
c.602A>C (p.Gln201Pro)
c.713A>C (p.Gln238Pro)
c.946-211525A>C (n.946-211525A>C)
6g.44230365A>GCA364306057POLR1C,SLC29A1c.473A>G (p.Gln158Arg)
n.871A>G
n.891A>G
c.416A>G (p.Gln139Arg)
c.162-2A>G
n.662A>G
c.710A>G (p.Gln237Arg)
c.599A>G (p.Gln200Arg)
c.551A>G (p.Gln184Arg)
c.548A>G (p.Gln183Arg)
c.602A>G (p.Gln201Arg)
c.713A>G (p.Gln238Arg)
c.946-211525A>G (n.946-211525A>G)
6g.44230365A>TCA3831579POLR1C,SLC29A1c.473A>T (p.Gln158Leu)
n.871A>T
n.891A>T
c.416A>T (p.Gln139Leu)
c.162-2A>T
n.662A>T
c.710A>T (p.Gln237Leu)
c.599A>T (p.Gln200Leu)
c.551A>T (p.Gln184Leu)
c.548A>T (p.Gln183Leu)
c.602A>T (p.Gln201Leu)
c.713A>T (p.Gln238Leu)
c.946-211525A>T (n.946-211525A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44230366G>ACA450308366POLR1C,SLC29A1c.474G>A (p.Gln158=)
n.872G>A
n.892G>A
c.417G>A (p.Gln139=)
c.162-1G>A
n.663G>A
c.711G>A (p.Gln237=)
c.600G>A (p.Gln200=)
c.552G>A (p.Gln184=)
c.549G>A (p.Gln183=)
c.603G>A (p.Gln201=)
c.714G>A (p.Gln238=)
c.946-211524G>A (n.946-211524G>A)
 dbSNP gnomAD v4
6g.44230366G>CCA364306058POLR1C,SLC29A1c.474G>C (p.Gln158His)
n.872G>C
n.892G>C
c.417G>C (p.Gln139His)
c.162-1G>C
n.663G>C
c.711G>C (p.Gln237His)
c.600G>C (p.Gln200His)
c.552G>C (p.Gln184His)
c.549G>C (p.Gln183His)
c.603G>C (p.Gln201His)
c.714G>C (p.Gln238His)
c.946-211524G>C (n.946-211524G>C)
6g.44230366G=CA1624908183POLR1C,SLC29A1c.474G= (p.Gln158=)
n.872G=
n.892G=
c.417G= (p.Gln139=)
c.162-1G=
n.663G=
c.711G= (p.Gln237=)
c.600G= (p.Gln200=)
c.552G= (p.Gln184=)
c.549G= (p.Gln183=)
c.603G= (p.Gln201=)
c.714G= (p.Gln238=)
c.946-211524G= (n.946-211524G=)
6g.44230366G>TCA364306059POLR1C,SLC29A1c.474G>T (p.Gln158His)
n.872G>T
n.892G>T
c.417G>T (p.Gln139His)
c.162-1G>T
n.663G>T
c.711G>T (p.Gln237His)
c.600G>T (p.Gln200His)
c.552G>T (p.Gln184His)
c.549G>T (p.Gln183His)
c.603G>T (p.Gln201His)
c.714G>T (p.Gln238His)
c.946-211524G>T (n.946-211524G>T)
6g.44230367G>ACA3831580POLR1C,SLC29A1c.475G>A (p.Gly159Ser)
n.873G>A
n.893G>A
c.418G>A (p.Gly140Ser)
c.162G>A
n.664G>A
c.712G>A (p.Gly238Ser)
c.601G>A (p.Gly201Ser)
c.553G>A (p.Gly185Ser)
c.550G>A (p.Gly184Ser)
c.604G>A (p.Gly202Ser)
c.715G>A (p.Gly239Ser)
c.946-211523G>A (n.946-211523G>A)
 dbSNP ExAC
6g.44230367G>CCA364306061POLR1C,SLC29A1c.475G>C (p.Gly159Arg)
n.873G>C
n.893G>C
c.418G>C (p.Gly140Arg)
c.162G>C
n.664G>C
c.712G>C (p.Gly238Arg)
c.601G>C (p.Gly201Arg)
c.553G>C (p.Gly185Arg)
c.550G>C (p.Gly184Arg)
c.604G>C (p.Gly202Arg)
c.715G>C (p.Gly239Arg)
c.946-211523G>C (n.946-211523G>C)
 gnomAD v4
6g.44230367G=CA1624908186POLR1C,SLC29A1c.475G= (p.Gly159=)
n.873G=
n.893G=
c.418G= (p.Gly140=)
c.162G=
n.664G=
c.712G= (p.Gly238=)
c.601G= (p.Gly201=)
c.553G= (p.Gly185=)
c.550G= (p.Gly184=)
c.604G= (p.Gly202=)
c.715G= (p.Gly239=)
c.946-211523G= (n.946-211523G=)
6g.44230367G>TCA364306060POLR1C,SLC29A1c.475G>T (p.Gly159Cys)
n.873G>T
n.893G>T
c.418G>T (p.Gly140Cys)
c.162G>T
n.664G>T
c.712G>T (p.Gly238Cys)
c.601G>T (p.Gly201Cys)
c.553G>T (p.Gly185Cys)
c.550G>T (p.Gly184Cys)
c.604G>T (p.Gly202Cys)
c.715G>T (p.Gly239Cys)
c.946-211523G>T (n.946-211523G>T)
6g.44230368G>ACA364306062POLR1C,SLC29A1c.476G>A (p.Gly159Asp)
n.874G>A
n.894G>A
c.419G>A (p.Gly140Asp)
c.163G>A
n.665G>A
c.713G>A (p.Gly238Asp)
c.602G>A (p.Gly201Asp)
c.554G>A (p.Gly185Asp)
c.551G>A (p.Gly184Asp)
c.605G>A (p.Gly202Asp)
c.716G>A (p.Gly239Asp)
c.946-211522G>A (n.946-211522G>A)
 gnomAD v4
6g.44230368G>CCA364306063POLR1C,SLC29A1c.476G>C (p.Gly159Ala)
n.874G>C
n.894G>C
c.419G>C (p.Gly140Ala)
c.163G>C
n.665G>C
c.713G>C (p.Gly238Ala)
c.602G>C (p.Gly201Ala)
c.554G>C (p.Gly185Ala)
c.551G>C (p.Gly184Ala)
c.605G>C (p.Gly202Ala)
c.716G>C (p.Gly239Ala)
c.946-211522G>C (n.946-211522G>C)
6g.44230368G>TCA364306064POLR1C,SLC29A1c.476G>T (p.Gly159Val)
n.874G>T
n.894G>T
c.419G>T (p.Gly140Val)
c.163G>T
n.665G>T
c.713G>T (p.Gly238Val)
c.602G>T (p.Gly201Val)
c.554G>T (p.Gly185Val)
c.551G>T (p.Gly184Val)
c.605G>T (p.Gly202Val)
c.716G>T (p.Gly239Val)
c.946-211522G>T (n.946-211522G>T)
6g.44230369C>ACA450308369POLR1C,SLC29A1c.477C>A (p.Gly159=)
n.875C>A
n.895C>A
c.420C>A (p.Gly140=)
c.164C>A
n.666C>A
c.714C>A (p.Gly238=)
c.603C>A (p.Gly201=)
c.555C>A (p.Gly185=)
c.552C>A (p.Gly184=)
c.606C>A (p.Gly202=)
c.717C>A (p.Gly239=)
c.946-211521C>A (n.946-211521C>A)
6g.44230369C>GCA450308367POLR1C,SLC29A1c.477C>G (p.Gly159=)
n.875C>G
n.895C>G
c.420C>G (p.Gly140=)
c.164C>G
n.666C>G
c.714C>G (p.Gly238=)
c.603C>G (p.Gly201=)
c.555C>G (p.Gly185=)
c.552C>G (p.Gly184=)
c.606C>G (p.Gly202=)
c.717C>G (p.Gly239=)
c.946-211521C>G (n.946-211521C>G)
6g.44230369C>TCA450308368POLR1C,SLC29A1c.477C>T (p.Gly159=)
n.875C>T
n.895C>T
c.420C>T (p.Gly140=)
c.164C>T
n.666C>T
c.714C>T (p.Gly238=)
c.603C>T (p.Gly201=)
c.555C>T (p.Gly185=)
c.552C>T (p.Gly184=)
c.606C>T (p.Gly202=)
c.717C>T (p.Gly239=)
c.946-211521C>T (n.946-211521C>T)
6g.44230370A>CCA364306065POLR1C,SLC29A1c.478A>C (p.Ser160Arg)
n.876A>C
n.896A>C
c.421A>C (p.Ser141Arg)
c.165A>C
n.667A>C
c.715A>C (p.Ser239Arg)
c.604A>C (p.Ser202Arg)
c.556A>C (p.Ser186Arg)
c.553A>C (p.Ser185Arg)
c.607A>C (p.Ser203Arg)
c.718A>C (p.Ser240Arg)
c.946-211520A>C (n.946-211520A>C)
6g.44230370A>GCA364306066POLR1C,SLC29A1c.478A>G (p.Ser160Gly)
n.876A>G
n.896A>G
c.421A>G (p.Ser141Gly)
c.165A>G
n.667A>G
c.715A>G (p.Ser239Gly)
c.604A>G (p.Ser202Gly)
c.556A>G (p.Ser186Gly)
c.553A>G (p.Ser185Gly)
c.607A>G (p.Ser203Gly)
c.718A>G (p.Ser240Gly)
c.946-211520A>G (n.946-211520A>G)
6g.44230370A>TCA364306067POLR1C,SLC29A1c.478A>T (p.Ser160Cys)
n.876A>T
n.896A>T
c.421A>T (p.Ser141Cys)
c.165A>T
n.667A>T
c.715A>T (p.Ser239Cys)
c.604A>T (p.Ser202Cys)
c.556A>T (p.Ser186Cys)
c.553A>T (p.Ser185Cys)
c.607A>T (p.Ser203Cys)
c.718A>T (p.Ser240Cys)
c.946-211520A>T (n.946-211520A>T)
6g.44230371G>ACA364306068POLR1C,SLC29A1c.479G>A (p.Ser160Asn)
n.877G>A
n.897G>A
c.422G>A (p.Ser141Asn)
c.166G>A
n.668G>A
c.716G>A (p.Ser239Asn)
c.605G>A (p.Ser202Asn)
c.557G>A (p.Ser186Asn)
c.554G>A (p.Ser185Asn)
c.608G>A (p.Ser203Asn)
c.719G>A (p.Ser240Asn)
c.946-211519G>A (n.946-211519G>A)
6g.44230371G>CCA364306070POLR1C,SLC29A1c.479G>C (p.Ser160Thr)
n.877G>C
n.897G>C
c.422G>C (p.Ser141Thr)
c.166G>C
n.668G>C
c.716G>C (p.Ser239Thr)
c.605G>C (p.Ser202Thr)
c.557G>C (p.Ser186Thr)
c.554G>C (p.Ser185Thr)
c.608G>C (p.Ser203Thr)
c.719G>C (p.Ser240Thr)
c.946-211519G>C (n.946-211519G>C)
6g.44230371G>TCA364306069POLR1C,SLC29A1c.479G>T (p.Ser160Ile)
n.877G>T
n.897G>T
c.422G>T (p.Ser141Ile)
c.166G>T
n.668G>T
c.716G>T (p.Ser239Ile)
c.605G>T (p.Ser202Ile)
c.557G>T (p.Ser186Ile)
c.554G>T (p.Ser185Ile)
c.608G>T (p.Ser203Ile)
c.719G>T (p.Ser240Ile)
c.946-211519G>T (n.946-211519G>T)
6g.44230372C>ACA364306071POLR1C,SLC29A1c.480C>A (p.Ser160Arg)
n.878C>A
n.898C>A
c.423C>A (p.Ser141Arg)
c.167C>A
n.669C>A
c.717C>A (p.Ser239Arg)
c.606C>A (p.Ser202Arg)
c.558C>A (p.Ser186Arg)
c.555C>A (p.Ser185Arg)
c.609C>A (p.Ser203Arg)
c.720C>A (p.Ser240Arg)
c.946-211518C>A (n.946-211518C>A)
6g.44230372C>GCA364306072POLR1C,SLC29A1c.480C>G (p.Ser160Arg)
n.878C>G
n.898C>G
c.423C>G (p.Ser141Arg)
c.167C>G
n.669C>G
c.717C>G (p.Ser239Arg)
c.606C>G (p.Ser202Arg)
c.558C>G (p.Ser186Arg)
c.555C>G (p.Ser185Arg)
c.609C>G (p.Ser203Arg)
c.720C>G (p.Ser240Arg)
c.946-211518C>G (n.946-211518C>G)
6g.44230372C>TCA450308370POLR1C,SLC29A1c.480C>T (p.Ser160=)
n.878C>T
n.898C>T
c.423C>T (p.Ser141=)
c.167C>T
n.669C>T
c.717C>T (p.Ser239=)
c.606C>T (p.Ser202=)
c.558C>T (p.Ser186=)
c.555C>T (p.Ser185=)
c.609C>T (p.Ser203=)
c.720C>T (p.Ser240=)
c.946-211518C>T (n.946-211518C>T)
6g.44230373C>ACA364306073POLR1C,SLC29A1c.481C>A (p.Leu161Met)
n.879C>A
n.899C>A
c.424C>A (p.Leu142Met)
c.168C>A
n.670C>A
c.718C>A (p.Leu240Met)
c.607C>A (p.Leu203Met)
c.559C>A (p.Leu187Met)
c.556C>A (p.Leu186Met)
c.610C>A (p.Leu204Met)
c.721C>A (p.Leu241Met)
c.946-211517C>A (n.946-211517C>A)
6g.44230373C=CA1624908191POLR1C,SLC29A1c.481C= (p.Leu161=)
n.879C=
n.899C=
c.424C= (p.Leu142=)
c.168C=
n.670C=
c.718C= (p.Leu240=)
c.607C= (p.Leu203=)
c.559C= (p.Leu187=)
c.556C= (p.Leu186=)
c.610C= (p.Leu204=)
c.721C= (p.Leu241=)
c.946-211517C= (n.946-211517C=)
6g.44230373C>GCA3831581POLR1C,SLC29A1c.481C>G (p.Leu161Val)
n.879C>G
n.899C>G
c.424C>G (p.Leu142Val)
c.168C>G
n.670C>G
c.718C>G (p.Leu240Val)
c.607C>G (p.Leu203Val)
c.559C>G (p.Leu187Val)
c.556C>G (p.Leu186Val)
c.610C>G (p.Leu204Val)
c.721C>G (p.Leu241Val)
c.946-211517C>G (n.946-211517C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44230373C>TCA450308371POLR1C,SLC29A1c.481C>T (p.Leu161=)
n.879C>T
n.899C>T
c.424C>T (p.Leu142=)
c.168C>T
n.670C>T
c.718C>T (p.Leu240=)
c.607C>T (p.Leu203=)
c.559C>T (p.Leu187=)
c.556C>T (p.Leu186=)
c.610C>T (p.Leu204=)
c.721C>T (p.Leu241=)
c.946-211517C>T (n.946-211517C>T)
 dbSNP
6g.44230374T>ACA364306074POLR1C,SLC29A1c.482T>A (p.Leu161Gln)
n.880T>A
n.900T>A
c.425T>A (p.Leu142Gln)
c.169T>A
n.671T>A
c.719T>A (p.Leu240Gln)
c.608T>A (p.Leu203Gln)
c.560T>A (p.Leu187Gln)
c.557T>A (p.Leu186Gln)
c.611T>A (p.Leu204Gln)
c.722T>A (p.Leu241Gln)
c.946-211516T>A (n.946-211516T>A)
6g.44230374T>CCA364306075POLR1C,SLC29A1c.482T>C (p.Leu161Pro)
n.880T>C
n.900T>C
c.425T>C (p.Leu142Pro)
c.169T>C
n.671T>C
c.719T>C (p.Leu240Pro)
c.608T>C (p.Leu203Pro)
c.560T>C (p.Leu187Pro)
c.557T>C (p.Leu186Pro)
c.611T>C (p.Leu204Pro)
c.722T>C (p.Leu241Pro)
c.946-211516T>C (n.946-211516T>C)
6g.44230374T>GCA364306076POLR1C,SLC29A1c.482T>G (p.Leu161Arg)
n.880T>G
n.900T>G
c.425T>G (p.Leu142Arg)
c.169T>G
n.671T>G
c.719T>G (p.Leu240Arg)
c.608T>G (p.Leu203Arg)
c.560T>G (p.Leu187Arg)
c.557T>G (p.Leu186Arg)
c.611T>G (p.Leu204Arg)
c.722T>G (p.Leu241Arg)
c.946-211516T>G (n.946-211516T>G)
6g.44230375G>ACA450308374POLR1C,SLC29A1c.483G>A (p.Leu161=)
n.881G>A
n.901G>A
c.426G>A (p.Leu142=)
c.170G>A
n.672G>A
c.720G>A (p.Leu240=)
c.609G>A (p.Leu203=)
c.561G>A (p.Leu187=)
c.558G>A (p.Leu186=)
c.612G>A (p.Leu204=)
c.723G>A (p.Leu241=)
c.946-211515G>A (n.946-211515G>A)
6g.44230375G>CCA450308372POLR1C,SLC29A1c.483G>C (p.Leu161=)
n.881G>C
n.901G>C
c.426G>C (p.Leu142=)
c.170G>C
n.672G>C
c.720G>C (p.Leu240=)
c.609G>C (p.Leu203=)
c.561G>C (p.Leu187=)
c.558G>C (p.Leu186=)
c.612G>C (p.Leu204=)
c.723G>C (p.Leu241=)
c.946-211515G>C (n.946-211515G>C)
6g.44230375G>TCA450308373POLR1C,SLC29A1c.483G>T (p.Leu161=)
n.881G>T
n.901G>T
c.426G>T (p.Leu142=)
c.170G>T
n.672G>T
c.720G>T (p.Leu240=)
c.609G>T (p.Leu203=)
c.561G>T (p.Leu187=)
c.558G>T (p.Leu186=)
c.612G>T (p.Leu204=)
c.723G>T (p.Leu241=)
c.946-211515G>T (n.946-211515G>T)
6g.44230376T>ACA364306077POLR1C,SLC29A1c.484T>A (p.Phe162Ile)
n.882T>A
n.902T>A
c.427T>A (p.Phe143Ile)
c.171T>A
n.673T>A
c.721T>A (p.Phe241Ile)
c.610T>A (p.Phe204Ile)
c.562T>A (p.Phe188Ile)
c.559T>A (p.Phe187Ile)
c.613T>A (p.Phe205Ile)
c.724T>A (p.Phe242Ile)
c.946-211514T>A (n.946-211514T>A)
6g.44230376T>CCA364306078POLR1C,SLC29A1c.484T>C (p.Phe162Leu)
n.882T>C
n.902T>C
c.427T>C (p.Phe143Leu)
c.171T>C
n.673T>C
c.721T>C (p.Phe241Leu)
c.610T>C (p.Phe204Leu)
c.562T>C (p.Phe188Leu)
c.559T>C (p.Phe187Leu)
c.613T>C (p.Phe205Leu)
c.724T>C (p.Phe242Leu)
c.946-211514T>C (n.946-211514T>C)
6g.44230376T>GCA364306079POLR1C,SLC29A1c.484T>G (p.Phe162Val)
n.882T>G
n.902T>G
c.427T>G (p.Phe143Val)
c.171T>G
n.673T>G
c.721T>G (p.Phe241Val)
c.610T>G (p.Phe204Val)
c.562T>G (p.Phe188Val)
c.559T>G (p.Phe187Val)
c.613T>G (p.Phe205Val)
c.724T>G (p.Phe242Val)
c.946-211514T>G (n.946-211514T>G)
6g.44230377T>ACA364306080POLR1C,SLC29A1c.485T>A (p.Phe162Tyr)
n.883T>A
n.903T>A
c.428T>A (p.Phe143Tyr)
c.172T>A
n.674T>A
c.722T>A (p.Phe241Tyr)
c.611T>A (p.Phe204Tyr)
c.563T>A (p.Phe188Tyr)
c.560T>A (p.Phe187Tyr)
c.614T>A (p.Phe205Tyr)
c.725T>A (p.Phe242Tyr)
c.946-211513T>A (n.946-211513T>A)
6g.44230377T>CCA364306082POLR1C,SLC29A1c.485T>C (p.Phe162Ser)
n.883T>C
n.903T>C
c.428T>C (p.Phe143Ser)
c.172T>C
n.674T>C
c.722T>C (p.Phe241Ser)
c.611T>C (p.Phe204Ser)
c.563T>C (p.Phe188Ser)
c.560T>C (p.Phe187Ser)
c.614T>C (p.Phe205Ser)
c.725T>C (p.Phe242Ser)
c.946-211513T>C (n.946-211513T>C)
6g.44230377T>GCA364306081POLR1C,SLC29A1c.485T>G (p.Phe162Cys)
n.883T>G
n.903T>G
c.428T>G (p.Phe143Cys)
c.172T>G
n.674T>G
c.722T>G (p.Phe241Cys)
c.611T>G (p.Phe204Cys)
c.563T>G (p.Phe188Cys)
c.560T>G (p.Phe187Cys)
c.614T>G (p.Phe205Cys)
c.725T>G (p.Phe242Cys)
c.946-211513T>G (n.946-211513T>G)
6g.44230378T>ACA364306083POLR1C,SLC29A1c.486T>A (p.Phe162Leu)
n.884T>A
n.904T>A
c.429T>A (p.Phe143Leu)
c.173T>A
n.675T>A
c.723T>A (p.Phe241Leu)
c.612T>A (p.Phe204Leu)
c.564T>A (p.Phe188Leu)
c.561T>A (p.Phe187Leu)
c.615T>A (p.Phe205Leu)
c.726T>A (p.Phe242Leu)
c.946-211512T>A (n.946-211512T>A)
6g.44230378T>CCA450308375POLR1C,SLC29A1c.486T>C (p.Phe162=)
n.884T>C
n.904T>C
c.429T>C (p.Phe143=)
c.173T>C
n.675T>C
c.723T>C (p.Phe241=)
c.612T>C (p.Phe204=)
c.564T>C (p.Phe188=)
c.561T>C (p.Phe187=)
c.615T>C (p.Phe205=)
c.726T>C (p.Phe242=)
c.946-211512T>C (n.946-211512T>C)
6g.44230378T>GCA364306084POLR1C,SLC29A1c.486T>G (p.Phe162Leu)
n.884T>G
n.904T>G
c.429T>G (p.Phe143Leu)
c.173T>G
n.675T>G
c.723T>G (p.Phe241Leu)
c.612T>G (p.Phe204Leu)
c.564T>G (p.Phe188Leu)
c.561T>G (p.Phe187Leu)
c.615T>G (p.Phe205Leu)
c.726T>G (p.Phe242Leu)
c.946-211512T>G (n.946-211512T>G)
6g.44230381_44230385delCA2678935184POLR1C,SLC29A1c.489_493del (p.Leu164TrpfsTer?)
n.887_891del
n.907_911del
c.432_436del (p.Leu145TrpfsTer?)
c.176_180del
n.678_682del
c.726_730del (p.Leu243TrpfsTer?)
c.615_619del (p.Leu206TrpfsTer?)
c.567_571del (p.Leu190TrpfsTer?)
c.564_568del (p.Leu189TrpfsTer?)
c.618_622del (p.Leu207TrpfsTer?)
c.729_733del (p.Leu244TrpfsTer?)
c.946-211509_946-211505del (n.946-211509_946-211505del)
 gnomAD v4
6g.44230379G>ACA364306085POLR1C,SLC29A1c.487G>A (p.Gly163Ser)
n.885G>A
n.905G>A
c.430G>A (p.Gly144Ser)
c.174G>A
n.676G>A
c.724G>A (p.Gly242Ser)
c.613G>A (p.Gly205Ser)
c.565G>A (p.Gly189Ser)
c.562G>A (p.Gly188Ser)
c.616G>A (p.Gly206Ser)
c.727G>A (p.Gly243Ser)
c.946-211511G>A (n.946-211511G>A)
 dbSNP gnomAD v2
6g.44230379G>CCA364306087POLR1C,SLC29A1c.487G>C (p.Gly163Arg)
n.885G>C
n.905G>C
c.430G>C (p.Gly144Arg)
c.174G>C
n.676G>C
c.724G>C (p.Gly242Arg)
c.613G>C (p.Gly205Arg)
c.565G>C (p.Gly189Arg)
c.562G>C (p.Gly188Arg)
c.616G>C (p.Gly206Arg)
c.727G>C (p.Gly243Arg)
c.946-211511G>C (n.946-211511G>C)
6g.44230379G=CA1624908195POLR1C,SLC29A1c.487G= (p.Gly163=)
n.885G=
n.905G=
c.430G= (p.Gly144=)
c.174G=
n.676G=
c.724G= (p.Gly242=)
c.613G= (p.Gly205=)
c.565G= (p.Gly189=)
c.562G= (p.Gly188=)
c.616G= (p.Gly206=)
c.727G= (p.Gly243=)
c.946-211511G= (n.946-211511G=)
6g.44230379G>TCA364306086POLR1C,SLC29A1c.487G>T (p.Gly163Cys)
n.885G>T
n.905G>T
c.430G>T (p.Gly144Cys)
c.174G>T
n.676G>T
c.724G>T (p.Gly242Cys)
c.613G>T (p.Gly205Cys)
c.565G>T (p.Gly189Cys)
c.562G>T (p.Gly188Cys)
c.616G>T (p.Gly206Cys)
c.727G>T (p.Gly243Cys)
c.946-211511G>T (n.946-211511G>T)
 gnomAD v4
6g.44230380G>ACA364306088POLR1C,SLC29A1c.488G>A (p.Gly163Asp)
n.886G>A
n.906G>A
c.431G>A (p.Gly144Asp)
c.175G>A
n.677G>A
c.725G>A (p.Gly242Asp)
c.614G>A (p.Gly205Asp)
c.566G>A (p.Gly189Asp)
c.563G>A (p.Gly188Asp)
c.617G>A (p.Gly206Asp)
c.728G>A (p.Gly243Asp)
c.946-211510G>A (n.946-211510G>A)
6g.44230380G>CCA364306089POLR1C,SLC29A1c.488G>C (p.Gly163Ala)
n.886G>C
n.906G>C
c.431G>C (p.Gly144Ala)
c.175G>C
n.677G>C
c.725G>C (p.Gly242Ala)
c.614G>C (p.Gly205Ala)
c.566G>C (p.Gly189Ala)
c.563G>C (p.Gly188Ala)
c.617G>C (p.Gly206Ala)
c.728G>C (p.Gly243Ala)
c.946-211510G>C (n.946-211510G>C)
6g.44230380G>TCA364306090POLR1C,SLC29A1c.488G>T (p.Gly163Val)
n.886G>T
n.906G>T
c.431G>T (p.Gly144Val)
c.175G>T
n.677G>T
c.725G>T (p.Gly242Val)
c.614G>T (p.Gly205Val)
c.566G>T (p.Gly189Val)
c.563G>T (p.Gly188Val)
c.617G>T (p.Gly206Val)
c.728G>T (p.Gly243Val)
c.946-211510G>T (n.946-211510G>T)
6g.44230381T>ACA450308376POLR1C,SLC29A1c.489T>A (p.Gly163=)
n.887T>A
n.907T>A
c.432T>A (p.Gly144=)
c.176T>A
n.678T>A
c.726T>A (p.Gly242=)
c.615T>A (p.Gly205=)
c.567T>A (p.Gly189=)
c.564T>A (p.Gly188=)
c.618T>A (p.Gly206=)
c.729T>A (p.Gly243=)
c.946-211509T>A (n.946-211509T>A)
 gnomAD v4
6g.44230381T>CCA450308377POLR1C,SLC29A1c.489T>C (p.Gly163=)
n.887T>C
n.907T>C
c.432T>C (p.Gly144=)
c.176T>C
n.678T>C
c.726T>C (p.Gly242=)
c.615T>C (p.Gly205=)
c.567T>C (p.Gly189=)
c.564T>C (p.Gly188=)
c.618T>C (p.Gly206=)
c.729T>C (p.Gly243=)
c.946-211509T>C (n.946-211509T>C)
6g.44230381T>GCA450308378POLR1C,SLC29A1c.489T>G (p.Gly163=)
n.887T>G
n.907T>G
c.432T>G (p.Gly144=)
c.176T>G
n.678T>G
c.726T>G (p.Gly242=)
c.615T>G (p.Gly205=)
c.567T>G (p.Gly189=)
c.564T>G (p.Gly188=)
c.618T>G (p.Gly206=)
c.729T>G (p.Gly243=)
c.946-211509T>G (n.946-211509T>G)
6g.44230382C>ACA364306091POLR1C,SLC29A1c.490C>A (p.Leu164Met)
n.888C>A
n.908C>A
c.433C>A (p.Leu145Met)
c.177C>A
n.679C>A
c.727C>A (p.Leu243Met)
c.616C>A (p.Leu206Met)
c.568C>A (p.Leu190Met)
c.565C>A (p.Leu189Met)
c.619C>A (p.Leu207Met)
c.730C>A (p.Leu244Met)
c.946-211508C>A (n.946-211508C>A)
6g.44230382C=CA1624908199POLR1C,SLC29A1c.490C= (p.Leu164=)
n.888C=
n.908C=
c.433C= (p.Leu145=)
c.177C=
n.679C=
c.727C= (p.Leu243=)
c.616C= (p.Leu206=)
c.568C= (p.Leu190=)
c.565C= (p.Leu189=)
c.619C= (p.Leu207=)
c.730C= (p.Leu244=)
c.946-211508C= (n.946-211508C=)
6g.44230382C>GCA364306092POLR1C,SLC29A1c.490C>G (p.Leu164Val)
n.888C>G
n.908C>G
c.433C>G (p.Leu145Val)
c.177C>G
n.679C>G
c.727C>G (p.Leu243Val)
c.616C>G (p.Leu206Val)
c.568C>G (p.Leu190Val)
c.565C>G (p.Leu189Val)
c.619C>G (p.Leu207Val)
c.730C>G (p.Leu244Val)
c.946-211508C>G (n.946-211508C>G)
 gnomAD v4
6g.44230382C>TCA450308379POLR1C,SLC29A1c.490C>T (p.Leu164=)
n.888C>T
n.908C>T
c.433C>T (p.Leu145=)
c.177C>T
n.679C>T
c.727C>T (p.Leu243=)
c.616C>T (p.Leu206=)
c.568C>T (p.Leu190=)
c.565C>T (p.Leu189=)
c.619C>T (p.Leu207=)
c.730C>T (p.Leu244=)
c.946-211508C>T (n.946-211508C>T)
 dbSNP
6g.44230383T>ACA364306093POLR1C,SLC29A1c.491T>A (p.Leu164Gln)
n.889T>A
n.909T>A
c.434T>A (p.Leu145Gln)
c.178T>A
n.680T>A
c.728T>A (p.Leu243Gln)
c.617T>A (p.Leu206Gln)
c.569T>A (p.Leu190Gln)
c.566T>A (p.Leu189Gln)
c.620T>A (p.Leu207Gln)
c.731T>A (p.Leu244Gln)
c.946-211507T>A (n.946-211507T>A)
6g.44230383T>CCA364306094POLR1C,SLC29A1c.491T>C (p.Leu164Pro)
n.889T>C
n.909T>C
c.434T>C (p.Leu145Pro)
c.178T>C
n.680T>C
c.728T>C (p.Leu243Pro)
c.617T>C (p.Leu206Pro)
c.569T>C (p.Leu190Pro)
c.566T>C (p.Leu189Pro)
c.620T>C (p.Leu207Pro)
c.731T>C (p.Leu244Pro)
c.946-211507T>C (n.946-211507T>C)
6g.44230383T>GCA364306095POLR1C,SLC29A1c.491T>G (p.Leu164Arg)
n.889T>G
n.909T>G
c.434T>G (p.Leu145Arg)
c.178T>G
n.680T>G
c.728T>G (p.Leu243Arg)
c.617T>G (p.Leu206Arg)
c.569T>G (p.Leu190Arg)
c.566T>G (p.Leu189Arg)
c.620T>G (p.Leu207Arg)
c.731T>G (p.Leu244Arg)
c.946-211507T>G (n.946-211507T>G)
6g.44230384G>ACA3831582POLR1C,SLC29A1c.492G>A (p.Leu164=)
n.890G>A
n.910G>A
c.435G>A (p.Leu145=)
c.179G>A
n.681G>A
c.729G>A (p.Leu243=)
c.618G>A (p.Leu206=)
c.570G>A (p.Leu190=)
c.567G>A (p.Leu189=)
c.621G>A (p.Leu207=)
c.732G>A (p.Leu244=)
c.946-211506G>A (n.946-211506G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.44230384G>CCA450308380POLR1C,SLC29A1c.492G>C (p.Leu164=)
n.890G>C
n.910G>C
c.435G>C (p.Leu145=)
c.179G>C
n.681G>C
c.729G>C (p.Leu243=)
c.618G>C (p.Leu206=)
c.570G>C (p.Leu190=)
c.567G>C (p.Leu189=)
c.621G>C (p.Leu207=)
c.732G>C (p.Leu244=)
c.946-211506G>C (n.946-211506G>C)
6g.44230384G=CA1624908201POLR1C,SLC29A1c.492G= (p.Leu164=)
n.890G=
n.910G=
c.435G= (p.Leu145=)
c.179G=
n.681G=
c.729G= (p.Leu243=)
c.618G= (p.Leu206=)
c.570G= (p.Leu190=)
c.567G= (p.Leu189=)
c.621G= (p.Leu207=)
c.732G= (p.Leu244=)
c.946-211506G= (n.946-211506G=)
6g.44230384G>TCA450308381POLR1C,SLC29A1c.492G>T (p.Leu164=)
n.890G>T
n.910G>T
c.435G>T (p.Leu145=)
c.179G>T
n.681G>T
c.729G>T (p.Leu243=)
c.618G>T (p.Leu206=)
c.570G>T (p.Leu190=)
c.567G>T (p.Leu189=)
c.621G>T (p.Leu207=)
c.732G>T (p.Leu244=)
c.946-211506G>T (n.946-211506G>T)
6g.44230385G>ACA364306096POLR1C,SLC29A1c.493G>A (p.Ala165Thr)
n.891G>A
n.911G>A
c.436G>A (p.Ala146Thr)
c.180G>A
n.682G>A
c.730G>A (p.Ala244Thr)
c.619G>A (p.Ala207Thr)
c.571G>A (p.Ala191Thr)
c.568G>A (p.Ala190Thr)
c.622G>A (p.Ala208Thr)
c.733G>A (p.Ala245Thr)
c.946-211505G>A (n.946-211505G>A)
6g.44230385G>CCA364306097POLR1C,SLC29A1c.493G>C (p.Ala165Pro)
n.891G>C
n.911G>C
c.436G>C (p.Ala146Pro)
c.180G>C
n.682G>C
c.730G>C (p.Ala244Pro)
c.619G>C (p.Ala207Pro)
c.571G>C (p.Ala191Pro)
c.568G>C (p.Ala190Pro)
c.622G>C (p.Ala208Pro)
c.733G>C (p.Ala245Pro)
c.946-211505G>C (n.946-211505G>C)
6g.44230385G>TCA364306098POLR1C,SLC29A1c.493G>T (p.Ala165Ser)
n.891G>T
n.911G>T
c.436G>T (p.Ala146Ser)
c.180G>T
n.682G>T
c.730G>T (p.Ala244Ser)
c.619G>T (p.Ala207Ser)
c.571G>T (p.Ala191Ser)
c.568G>T (p.Ala190Ser)
c.622G>T (p.Ala208Ser)
c.733G>T (p.Ala245Ser)
c.946-211505G>T (n.946-211505G>T)
6g.44230386C>ACA364306099POLR1C,SLC29A1c.494C>A (p.Ala165Asp)
n.892C>A
n.912C>A
c.437C>A (p.Ala146Asp)
c.181C>A
n.683C>A
c.731C>A (p.Ala244Asp)
c.620C>A (p.Ala207Asp)
c.572C>A (p.Ala191Asp)
c.569C>A (p.Ala190Asp)
c.623C>A (p.Ala208Asp)
c.734C>A (p.Ala245Asp)
c.946-211504C>A (n.946-211504C>A)
6g.44230386C=CA1624908205POLR1C,SLC29A1c.494C= (p.Ala165=)
n.892C=
n.912C=
c.437C= (p.Ala146=)
c.181C=
n.683C=
c.731C= (p.Ala244=)
c.620C= (p.Ala207=)
c.572C= (p.Ala191=)
c.569C= (p.Ala190=)
c.623C= (p.Ala208=)
c.734C= (p.Ala245=)
c.946-211504C= (n.946-211504C=)
6g.44230386C>GCA364306100POLR1C,SLC29A1c.494C>G (p.Ala165Gly)
n.892C>G
n.912C>G
c.437C>G (p.Ala146Gly)
c.181C>G
n.683C>G
c.731C>G (p.Ala244Gly)
c.620C>G (p.Ala207Gly)
c.572C>G (p.Ala191Gly)
c.569C>G (p.Ala190Gly)
c.623C>G (p.Ala208Gly)
c.734C>G (p.Ala245Gly)
c.946-211504C>G (n.946-211504C>G)
6g.44230386C>TCA138375159POLR1C,SLC29A1c.494C>T (p.Ala165Val)
n.892C>T
n.912C>T
c.437C>T (p.Ala146Val)
c.181C>T
n.683C>T
c.731C>T (p.Ala244Val)
c.620C>T (p.Ala207Val)
c.572C>T (p.Ala191Val)
c.569C>T (p.Ala190Val)
c.623C>T (p.Ala208Val)
c.734C>T (p.Ala245Val)
c.946-211504C>T (n.946-211504C>T)
 dbSNP gnomAD v3 gnomAD v4
6g.44230387T>ACA450308382POLR1C,SLC29A1c.495T>A (p.Ala165=)
n.893T>A
n.913T>A
c.438T>A (p.Ala146=)
c.182T>A
n.684T>A
c.732T>A (p.Ala244=)
c.621T>A (p.Ala207=)
c.573T>A (p.Ala191=)
c.570T>A (p.Ala190=)
c.624T>A (p.Ala208=)
c.735T>A (p.Ala245=)
c.946-211503T>A (n.946-211503T>A)
6g.44230387T>CCA450308383POLR1C,SLC29A1c.495T>C (p.Ala165=)
n.893T>C
n.913T>C
c.438T>C (p.Ala146=)
c.182T>C
n.684T>C
c.732T>C (p.Ala244=)
c.621T>C (p.Ala207=)
c.573T>C (p.Ala191=)
c.570T>C (p.Ala190=)
c.624T>C (p.Ala208=)
c.735T>C (p.Ala245=)
c.946-211503T>C (n.946-211503T>C)
 gnomAD v4 COSMIC COSMIC
6g.44230387T>GCA450308384POLR1C,SLC29A1c.495T>G (p.Ala165=)
n.893T>G
n.913T>G
c.438T>G (p.Ala146=)
c.182T>G
n.684T>G
c.732T>G (p.Ala244=)
c.621T>G (p.Ala207=)
c.573T>G (p.Ala191=)
c.570T>G (p.Ala190=)
c.624T>G (p.Ala208=)
c.735T>G (p.Ala245=)
c.946-211503T>G (n.946-211503T>G)
6g.44230388G>ACA364306101POLR1C,SLC29A1c.496G>A (p.Gly166Ser)
n.894G>A
n.914G>A
c.439G>A (p.Gly147Ser)
c.183G>A
n.685G>A
c.733G>A (p.Gly245Ser)
c.622G>A (p.Gly208Ser)
c.574G>A (p.Gly192Ser)
c.571G>A (p.Gly191Ser)
c.625G>A (p.Gly209Ser)
c.736G>A (p.Gly246Ser)
c.946-211502G>A (n.946-211502G>A)
6g.44230388G>CCA364306103POLR1C,SLC29A1c.496G>C (p.Gly166Arg)
n.894G>C
n.914G>C
c.439G>C (p.Gly147Arg)
c.183G>C
n.685G>C
c.733G>C (p.Gly245Arg)
c.622G>C (p.Gly208Arg)
c.574G>C (p.Gly192Arg)
c.571G>C (p.Gly191Arg)
c.625G>C (p.Gly209Arg)
c.736G>C (p.Gly246Arg)
c.946-211502G>C (n.946-211502G>C)
6g.44230388G>TCA364306102POLR1C,SLC29A1c.496G>T (p.Gly166Cys)
n.894G>T
n.914G>T
c.439G>T (p.Gly147Cys)
c.183G>T
n.685G>T
c.733G>T (p.Gly245Cys)
c.622G>T (p.Gly208Cys)
c.574G>T (p.Gly192Cys)
c.571G>T (p.Gly191Cys)
c.625G>T (p.Gly209Cys)
c.736G>T (p.Gly246Cys)
c.946-211502G>T (n.946-211502G>T)
6g.44230389G>ACA364306104POLR1C,SLC29A1c.497G>A (p.Gly166Asp)
n.895G>A
n.915G>A
c.440G>A (p.Gly147Asp)
c.184G>A
n.686G>A
c.734G>A (p.Gly245Asp)
c.623G>A (p.Gly208Asp)
c.575G>A (p.Gly192Asp)
c.572G>A (p.Gly191Asp)
c.626G>A (p.Gly209Asp)
c.737G>A (p.Gly246Asp)
c.946-211501G>A (n.946-211501G>A)
6g.44230389G>CCA364306105POLR1C,SLC29A1c.497G>C (p.Gly166Ala)
n.895G>C
n.915G>C
c.440G>C (p.Gly147Ala)
c.184G>C
n.686G>C
c.734G>C (p.Gly245Ala)
c.623G>C (p.Gly208Ala)
c.575G>C (p.Gly192Ala)
c.572G>C (p.Gly191Ala)
c.626G>C (p.Gly209Ala)
c.737G>C (p.Gly246Ala)
c.946-211501G>C (n.946-211501G>C)
6g.44230389G>TCA364306106POLR1C,SLC29A1c.497G>T (p.Gly166Val)
n.895G>T
n.915G>T
c.440G>T (p.Gly147Val)
c.184G>T
n.686G>T
c.734G>T (p.Gly245Val)
c.623G>T (p.Gly208Val)
c.575G>T (p.Gly192Val)
c.572G>T (p.Gly191Val)
c.626G>T (p.Gly209Val)
c.737G>T (p.Gly246Val)
c.946-211501G>T (n.946-211501G>T)
6g.44230390C>ACA450308385POLR1C,SLC29A1c.498C>A (p.Gly166=)
n.896C>A
n.916C>A
c.441C>A (p.Gly147=)
c.185C>A
n.687C>A
c.735C>A (p.Gly245=)
c.624C>A (p.Gly208=)
c.576C>A (p.Gly192=)
c.573C>A (p.Gly191=)
c.627C>A (p.Gly209=)
c.738C>A (p.Gly246=)
c.946-211500C>A (n.946-211500C>A)
6g.44230390C>GCA450308386POLR1C,SLC29A1c.498C>G (p.Gly166=)
n.896C>G
n.916C>G
c.441C>G (p.Gly147=)
c.185C>G
n.687C>G
c.735C>G (p.Gly245=)
c.624C>G (p.Gly208=)
c.576C>G (p.Gly192=)
c.573C>G (p.Gly191=)
c.627C>G (p.Gly209=)
c.738C>G (p.Gly246=)
c.946-211500C>G (n.946-211500C>G)
 gnomAD v4
6g.44230390C>TCA450308387POLR1C,SLC29A1c.498C>T (p.Gly166=)
n.896C>T
n.916C>T
c.441C>T (p.Gly147=)
c.185C>T
n.687C>T
c.735C>T (p.Gly245=)
c.624C>T (p.Gly208=)
c.576C>T (p.Gly192=)
c.573C>T (p.Gly191=)
c.627C>T (p.Gly209=)
c.738C>T (p.Gly246=)
c.946-211500C>T (n.946-211500C>T)
6g.44230391C>ACA364306107POLR1C,SLC29A1c.499C>A (p.Leu167Ile)
n.897C>A
n.917C>A
c.442C>A (p.Leu148Ile)
c.186C>A
n.688C>A
c.736C>A (p.Leu246Ile)
c.625C>A (p.Leu209Ile)
c.577C>A (p.Leu193Ile)
c.574C>A (p.Leu192Ile)
c.628C>A (p.Leu210Ile)
c.739C>A (p.Leu247Ile)
c.946-211499C>A (n.946-211499C>A)
6g.44230391C>GCA364306108POLR1C,SLC29A1c.499C>G (p.Leu167Val)
n.897C>G
n.917C>G
c.442C>G (p.Leu148Val)
c.186C>G
n.688C>G
c.736C>G (p.Leu246Val)
c.625C>G (p.Leu209Val)
c.577C>G (p.Leu193Val)
c.574C>G (p.Leu192Val)
c.628C>G (p.Leu210Val)
c.739C>G (p.Leu247Val)
c.946-211499C>G (n.946-211499C>G)
6g.44230391C>TCA364306109POLR1C,SLC29A1c.499C>T (p.Leu167Phe)
n.897C>T
n.917C>T
c.442C>T (p.Leu148Phe)
c.186C>T
n.688C>T
c.736C>T (p.Leu246Phe)
c.625C>T (p.Leu209Phe)
c.577C>T (p.Leu193Phe)
c.574C>T (p.Leu192Phe)
c.628C>T (p.Leu210Phe)
c.739C>T (p.Leu247Phe)
c.946-211499C>T (n.946-211499C>T)
6g.44230393_44230395delCA2678935185POLR1C,SLC29A1c.501_503del (p.Leu168del)
n.899_901del
n.919_921del
c.444_446del (p.Leu149del)
c.188_190del
n.690_692del
c.738_740del (p.Leu247del)
c.627_629del (p.Leu210del)
c.579_581del (p.Leu194del)
c.576_578del (p.Leu193del)
c.630_632del (p.Leu211del)
c.741_743del (p.Leu248del)
c.946-211497_946-211495del (n.946-211497_946-211495del)
 gnomAD v4
6g.44230392T>ACA364306110POLR1C,SLC29A1c.500T>A (p.Leu167His)
n.898T>A
n.918T>A
c.443T>A (p.Leu148His)
c.187T>A
n.689T>A
c.737T>A (p.Leu246His)
c.626T>A (p.Leu209His)
c.578T>A (p.Leu193His)
c.575T>A (p.Leu192His)
c.629T>A (p.Leu210His)
c.740T>A (p.Leu247His)
c.946-211498T>A (n.946-211498T>A)
6g.44230392T>CCA364306111POLR1C,SLC29A1c.500T>C (p.Leu167Pro)
n.898T>C
n.918T>C
c.443T>C (p.Leu148Pro)
c.187T>C
n.689T>C
c.737T>C (p.Leu246Pro)
c.626T>C (p.Leu209Pro)
c.578T>C (p.Leu193Pro)
c.575T>C (p.Leu192Pro)
c.629T>C (p.Leu210Pro)
c.740T>C (p.Leu247Pro)
c.946-211498T>C (n.946-211498T>C)
6g.44230392T>GCA364306112POLR1C,SLC29A1c.500T>G (p.Leu167Arg)
n.898T>G
n.918T>G
c.443T>G (p.Leu148Arg)
c.187T>G
n.689T>G
c.737T>G (p.Leu246Arg)
c.626T>G (p.Leu209Arg)
c.578T>G (p.Leu193Arg)
c.575T>G (p.Leu192Arg)
c.629T>G (p.Leu210Arg)
c.740T>G (p.Leu247Arg)
c.946-211498T>G (n.946-211498T>G)
6g.44230393T>ACA450308388POLR1C,SLC29A1c.501T>A (p.Leu167=)
n.899T>A
n.919T>A
c.444T>A (p.Leu148=)
c.188T>A
n.690T>A
c.738T>A (p.Leu246=)
c.627T>A (p.Leu209=)
c.579T>A (p.Leu193=)
c.576T>A (p.Leu192=)
c.630T>A (p.Leu210=)
c.741T>A (p.Leu247=)
c.946-211497T>A (n.946-211497T>A)
6g.44230393T>CCA450308389POLR1C,SLC29A1c.501T>C (p.Leu167=)
n.899T>C
n.919T>C
c.444T>C (p.Leu148=)
c.188T>C
n.690T>C
c.738T>C (p.Leu246=)
c.627T>C (p.Leu209=)
c.579T>C (p.Leu193=)
c.576T>C (p.Leu192=)
c.630T>C (p.Leu210=)
c.741T>C (p.Leu247=)
c.946-211497T>C (n.946-211497T>C)
6g.44230393T>GCA450308390POLR1C,SLC29A1c.501T>G (p.Leu167=)
n.899T>G
n.919T>G
c.444T>G (p.Leu148=)
c.188T>G
n.690T>G
c.738T>G (p.Leu246=)
c.627T>G (p.Leu209=)
c.579T>G (p.Leu193=)
c.576T>G (p.Leu192=)
c.630T>G (p.Leu210=)
c.741T>G (p.Leu247=)
c.946-211497T>G (n.946-211497T>G)
6g.44230394C>ACA364306113POLR1C,SLC29A1c.502C>A (p.Leu168Met)
n.900C>A
n.920C>A
c.445C>A (p.Leu149Met)
c.189C>A
n.691C>A
c.739C>A (p.Leu247Met)
c.628C>A (p.Leu210Met)
c.580C>A (p.Leu194Met)
c.577C>A (p.Leu193Met)
c.631C>A (p.Leu211Met)
c.742C>A (p.Leu248Met)
c.946-211496C>A (n.946-211496C>A)
6g.44230394C>GCA364306114POLR1C,SLC29A1c.502C>G (p.Leu168Val)
n.900C>G
n.920C>G
c.445C>G (p.Leu149Val)
c.189C>G
n.691C>G
c.739C>G (p.Leu247Val)
c.628C>G (p.Leu210Val)
c.580C>G (p.Leu194Val)
c.577C>G (p.Leu193Val)
c.631C>G (p.Leu211Val)
c.742C>G (p.Leu248Val)
c.946-211496C>G (n.946-211496C>G)
6g.44230394C>TCA450308391POLR1C,SLC29A1c.502C>T (p.Leu168=)
n.900C>T
n.920C>T
c.445C>T (p.Leu149=)
c.189C>T
n.691C>T
c.739C>T (p.Leu247=)
c.628C>T (p.Leu210=)
c.580C>T (p.Leu194=)
c.577C>T (p.Leu193=)
c.631C>T (p.Leu211=)
c.742C>T (p.Leu248=)
c.946-211496C>T (n.946-211496C>T)
6g.44230395T>ACA364306115POLR1C,SLC29A1c.503T>A (p.Leu168Gln)
n.901T>A
n.921T>A
c.446T>A (p.Leu149Gln)
c.190T>A
n.692T>A
c.740T>A (p.Leu247Gln)
c.629T>A (p.Leu210Gln)
c.581T>A (p.Leu194Gln)
c.578T>A (p.Leu193Gln)
c.632T>A (p.Leu211Gln)
c.743T>A (p.Leu248Gln)
c.946-211495T>A (n.946-211495T>A)
6g.44230395T>CCA364306117POLR1C,SLC29A1c.503T>C (p.Leu168Pro)
n.901T>C
n.921T>C
c.446T>C (p.Leu149Pro)
c.190T>C
n.692T>C
c.740T>C (p.Leu247Pro)
c.629T>C (p.Leu210Pro)
c.581T>C (p.Leu194Pro)
c.578T>C (p.Leu193Pro)
c.632T>C (p.Leu211Pro)
c.743T>C (p.Leu248Pro)
c.946-211495T>C (n.946-211495T>C)
6g.44230395T>GCA364306116POLR1C,SLC29A1c.503T>G (p.Leu168Arg)
n.901T>G
n.921T>G
c.446T>G (p.Leu149Arg)
c.190T>G
n.692T>G
c.740T>G (p.Leu247Arg)
c.629T>G (p.Leu210Arg)
c.581T>G (p.Leu194Arg)
c.578T>G (p.Leu193Arg)
c.632T>G (p.Leu211Arg)
c.743T>G (p.Leu248Arg)
c.946-211495T>G (n.946-211495T>G)
6g.44230396G>ACA450308392POLR1C,SLC29A1c.504G>A (p.Leu168=)
n.902G>A
n.922G>A
c.447G>A (p.Leu149=)
c.191G>A
n.693G>A
c.741G>A (p.Leu247=)
c.630G>A (p.Leu210=)
c.582G>A (p.Leu194=)
c.579G>A (p.Leu193=)
c.633G>A (p.Leu211=)
c.744G>A (p.Leu248=)
c.946-211494G>A (n.946-211494G>A)
6g.44230396G>CCA450308394POLR1C,SLC29A1c.504G>C (p.Leu168=)
n.902G>C
n.922G>C
c.447G>C (p.Leu149=)
c.191G>C
n.693G>C
c.741G>C (p.Leu247=)
c.630G>C (p.Leu210=)
c.582G>C (p.Leu194=)
c.579G>C (p.Leu193=)
c.633G>C (p.Leu211=)
c.744G>C (p.Leu248=)
c.946-211494G>C (n.946-211494G>C)
6g.44230396G>TCA450308393POLR1C,SLC29A1c.504G>T (p.Leu168=)
n.902G>T
n.922G>T
c.447G>T (p.Leu149=)
c.191G>T
n.693G>T
c.741G>T (p.Leu247=)
c.630G>T (p.Leu210=)
c.582G>T (p.Leu194=)
c.579G>T (p.Leu193=)
c.633G>T (p.Leu211=)
c.744G>T (p.Leu248=)
c.946-211494G>T (n.946-211494G>T)
6g.44230397C>ACA364306118POLR1C,SLC29A1c.505C>A (p.Pro169Thr)
n.903C>A
n.923C>A
c.448C>A (p.Pro150Thr)
c.192C>A
n.694C>A
c.742C>A (p.Pro248Thr)
c.631C>A (p.Pro211Thr)
c.583C>A (p.Pro195Thr)
c.580C>A (p.Pro194Thr)
c.634C>A (p.Pro212Thr)
c.745C>A (p.Pro249Thr)
c.946-211493C>A (n.946-211493C>A)
6g.44230397C>GCA364306119POLR1C,SLC29A1c.505C>G (p.Pro169Ala)
n.903C>G
n.923C>G
c.448C>G (p.Pro150Ala)
c.192C>G
n.694C>G
c.742C>G (p.Pro248Ala)
c.631C>G (p.Pro211Ala)
c.583C>G (p.Pro195Ala)
c.580C>G (p.Pro194Ala)
c.634C>G (p.Pro212Ala)
c.745C>G (p.Pro249Ala)
c.946-211493C>G (n.946-211493C>G)
6g.44230397C>TCA364306120POLR1C,SLC29A1c.505C>T (p.Pro169Ser)
n.903C>T
n.923C>T
c.448C>T (p.Pro150Ser)
c.192C>T
n.694C>T
c.742C>T (p.Pro248Ser)
c.631C>T (p.Pro211Ser)
c.583C>T (p.Pro195Ser)
c.580C>T (p.Pro194Ser)
c.634C>T (p.Pro212Ser)
c.745C>T (p.Pro249Ser)
c.946-211493C>T (n.946-211493C>T)
6g.44230398C>ACA364306121POLR1C,SLC29A1c.506C>A (p.Pro169His)
n.904C>A
n.924C>A
c.449C>A (p.Pro150His)
c.193C>A
n.695C>A
c.743C>A (p.Pro248His)
c.632C>A (p.Pro211His)
c.584C>A (p.Pro195His)
c.581C>A (p.Pro194His)
c.635C>A (p.Pro212His)
c.746C>A (p.Pro249His)
c.946-211492C>A (n.946-211492C>A)
6g.44230398C>GCA364306122POLR1C,SLC29A1c.506C>G (p.Pro169Arg)
n.904C>G
n.924C>G
c.449C>G (p.Pro150Arg)
c.193C>G
n.695C>G
c.743C>G (p.Pro248Arg)
c.632C>G (p.Pro211Arg)
c.584C>G (p.Pro195Arg)
c.581C>G (p.Pro194Arg)
c.635C>G (p.Pro212Arg)
c.746C>G (p.Pro249Arg)
c.946-211492C>G (n.946-211492C>G)
6g.44230398C>TCA364306123POLR1C,SLC29A1c.506C>T (p.Pro169Leu)
n.904C>T
n.924C>T
c.449C>T (p.Pro150Leu)
c.193C>T
n.695C>T
c.743C>T (p.Pro248Leu)
c.632C>T (p.Pro211Leu)
c.584C>T (p.Pro195Leu)
c.581C>T (p.Pro194Leu)
c.635C>T (p.Pro212Leu)
c.746C>T (p.Pro249Leu)
c.946-211492C>T (n.946-211492C>T)
6g.44230399T>ACA450308395POLR1C,SLC29A1c.507T>A (p.Pro169=)
n.905T>A
n.925T>A
c.450T>A (p.Pro150=)
c.194T>A
n.696T>A
c.744T>A (p.Pro248=)
c.633T>A (p.Pro211=)
c.585T>A (p.Pro195=)
c.582T>A (p.Pro194=)
c.636T>A (p.Pro212=)
c.747T>A (p.Pro249=)
c.946-211491T>A (n.946-211491T>A)
6g.44230399T>CCA450308396POLR1C,SLC29A1c.507T>C (p.Pro169=)
n.905T>C
n.925T>C
c.450T>C (p.Pro150=)
c.194T>C
n.696T>C
c.744T>C (p.Pro248=)
c.633T>C (p.Pro211=)
c.585T>C (p.Pro195=)
c.582T>C (p.Pro194=)
c.636T>C (p.Pro212=)
c.747T>C (p.Pro249=)
c.946-211491T>C (n.946-211491T>C)
6g.44230399T>GCA450308397POLR1C,SLC29A1c.507T>G (p.Pro169=)
n.905T>G
n.925T>G
c.450T>G (p.Pro150=)
c.194T>G
n.696T>G
c.744T>G (p.Pro248=)
c.633T>G (p.Pro211=)
c.585T>G (p.Pro195=)
c.582T>G (p.Pro194=)
c.636T>G (p.Pro212=)
c.747T>G (p.Pro249=)
c.946-211491T>G (n.946-211491T>G)
6g.44230400G>ACA3831583POLR1C,SLC29A1c.508G>A (p.Ala170Thr)
n.906G>A
n.926G>A
c.451G>A (p.Ala151Thr)
c.195G>A
c.508G>A
n.697G>A
c.745G>A (p.Ala249Thr)
c.634G>A (p.Ala212Thr)
c.586G>A (p.Ala196Thr)
c.583G>A (p.Ala195Thr)
c.637G>A (p.Ala213Thr)
c.748G>A (p.Ala250Thr)
c.946-211490G>A (n.946-211490G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44230400G>CCA364306124POLR1C,SLC29A1c.508G>C (p.Ala170Pro)
n.906G>C
n.926G>C
c.451G>C (p.Ala151Pro)
c.195G>C
c.508G>C
n.697G>C
c.745G>C (p.Ala249Pro)
c.634G>C (p.Ala212Pro)
c.586G>C (p.Ala196Pro)
c.583G>C (p.Ala195Pro)
c.637G>C (p.Ala213Pro)
c.748G>C (p.Ala250Pro)
c.946-211490G>C (n.946-211490G>C)
6g.44230400G=CA1624908208POLR1C,SLC29A1c.508G= (p.Ala170=)
n.906G=
n.926G=
c.451G= (p.Ala151=)
c.195G=
c.508G=
n.697G=
c.745G= (p.Ala249=)
c.634G= (p.Ala212=)
c.586G= (p.Ala196=)
c.583G= (p.Ala195=)
c.637G= (p.Ala213=)
c.748G= (p.Ala250=)
c.946-211490G= (n.946-211490G=)
6g.44230400G>TCA364306125POLR1C,SLC29A1c.508G>T (p.Ala170Ser)
n.906G>T
n.926G>T
c.451G>T (p.Ala151Ser)
c.195G>T
c.508G>T
n.697G>T
c.745G>T (p.Ala249Ser)
c.634G>T (p.Ala212Ser)
c.586G>T (p.Ala196Ser)
c.583G>T (p.Ala195Ser)
c.637G>T (p.Ala213Ser)
c.748G>T (p.Ala250Ser)
c.946-211490G>T (n.946-211490G>T)
6g.44230401C>ACA364306126POLR1C,SLC29A1c.509C>A (p.Ala170Asp)
n.907C>A
n.927C>A
c.452C>A (p.Ala151Asp)
c.196C>A
c.509C>A
n.698C>A
c.746C>A (p.Ala249Asp)
c.635C>A (p.Ala212Asp)
c.587C>A (p.Ala196Asp)
c.584C>A (p.Ala195Asp)
c.638C>A (p.Ala213Asp)
c.749C>A (p.Ala250Asp)
c.946-211489C>A (n.946-211489C>A)
6g.44230401C>GCA364306127POLR1C,SLC29A1c.509C>G (p.Ala170Gly)
n.907C>G
n.927C>G
c.452C>G (p.Ala151Gly)
c.196C>G
c.509C>G
n.698C>G
c.746C>G (p.Ala249Gly)
c.635C>G (p.Ala212Gly)
c.587C>G (p.Ala196Gly)
c.584C>G (p.Ala195Gly)
c.638C>G (p.Ala213Gly)
c.749C>G (p.Ala250Gly)
c.946-211489C>G (n.946-211489C>G)
6g.44230401C>TCA364306128POLR1C,SLC29A1c.509C>T (p.Ala170Val)
n.907C>T
n.927C>T
c.452C>T (p.Ala151Val)
c.196C>T
c.509C>T
n.698C>T
c.746C>T (p.Ala249Val)
c.635C>T (p.Ala212Val)
c.587C>T (p.Ala196Val)
c.584C>T (p.Ala195Val)
c.638C>T (p.Ala213Val)
c.749C>T (p.Ala250Val)
c.946-211489C>T (n.946-211489C>T)
6g.44230402C>ACA450308398POLR1C,SLC29A1c.510C>A (p.Ala170=)
n.908C>A
n.928C>A
c.453C>A (p.Ala151=)
c.197C>A
n.699C>A
c.747C>A (p.Ala249=)
c.636C>A (p.Ala212=)
c.588C>A (p.Ala196=)
c.585C>A (p.Ala195=)
c.639C>A (p.Ala213=)
c.750C>A (p.Ala250=)
c.946-211488C>A (n.946-211488C>A)
6g.44230402C=CA1624908211POLR1C,SLC29A1c.510C= (p.Ala170=)
n.908C=
n.928C=
c.453C= (p.Ala151=)
c.197C=
n.699C=
c.747C= (p.Ala249=)
c.636C= (p.Ala212=)
c.588C= (p.Ala196=)
c.585C= (p.Ala195=)
c.639C= (p.Ala213=)
c.750C= (p.Ala250=)
c.946-211488C= (n.946-211488C=)
6g.44230402C>GCA450308399POLR1C,SLC29A1c.510C>G (p.Ala170=)
n.908C>G
n.928C>G
c.453C>G (p.Ala151=)
c.197C>G
n.699C>G
c.747C>G (p.Ala249=)
c.636C>G (p.Ala212=)
c.588C>G (p.Ala196=)
c.585C>G (p.Ala195=)
c.639C>G (p.Ala213=)
c.750C>G (p.Ala250=)
c.946-211488C>G (n.946-211488C>G)
6g.44230402C>TCA138375164POLR1C,SLC29A1c.510C>T (p.Ala170=)
n.908C>T
n.928C>T
c.453C>T (p.Ala151=)
c.197C>T
n.699C>T
c.747C>T (p.Ala249=)
c.636C>T (p.Ala212=)
c.588C>T (p.Ala196=)
c.585C>T (p.Ala195=)
c.639C>T (p.Ala213=)
c.750C>T (p.Ala250=)
c.946-211488C>T (n.946-211488C>T)
 dbSNP gnomAD v3 gnomAD v4
6g.44230403A>CCA364306131POLR1C,SLC29A1c.511A>C (p.Ser171Arg)
n.909A>C
n.929A>C
c.454A>C (p.Ser152Arg)
c.198A>C
n.700A>C
c.748A>C (p.Ser250Arg)
c.637A>C (p.Ser213Arg)
c.589A>C (p.Ser197Arg)
c.586A>C (p.Ser196Arg)
c.640A>C (p.Ser214Arg)
c.751A>C (p.Ser251Arg)
c.946-211487A>C (n.946-211487A>C)
6g.44230403A>GCA364306129POLR1C,SLC29A1c.511A>G (p.Ser171Gly)
n.909A>G
n.929A>G
c.454A>G (p.Ser152Gly)
c.198A>G
n.700A>G
c.748A>G (p.Ser250Gly)
c.637A>G (p.Ser213Gly)
c.589A>G (p.Ser197Gly)
c.586A>G (p.Ser196Gly)
c.640A>G (p.Ser214Gly)
c.751A>G (p.Ser251Gly)
c.946-211487A>G (n.946-211487A>G)
 gnomAD v4
6g.44230403A>TCA364306130POLR1C,SLC29A1c.511A>T (p.Ser171Cys)
n.909A>T
n.929A>T
c.454A>T (p.Ser152Cys)
c.198A>T
n.700A>T
c.748A>T (p.Ser250Cys)
c.637A>T (p.Ser213Cys)
c.589A>T (p.Ser197Cys)
c.586A>T (p.Ser196Cys)
c.640A>T (p.Ser214Cys)
c.751A>T (p.Ser251Cys)
c.946-211487A>T (n.946-211487A>T)
6g.44230404G>ACA364306132POLR1C,SLC29A1c.512G>A (p.Ser171Asn)
n.910G>A
n.930G>A
c.455G>A (p.Ser152Asn)
c.199G>A
n.701G>A
c.749G>A (p.Ser250Asn)
c.638G>A (p.Ser213Asn)
c.590G>A (p.Ser197Asn)
c.587G>A (p.Ser196Asn)
c.641G>A (p.Ser214Asn)
c.752G>A (p.Ser251Asn)
c.946-211486G>A (n.946-211486G>A)
6g.44230404G>CCA364306133POLR1C,SLC29A1c.512G>C (p.Ser171Thr)
n.910G>C
n.930G>C
c.455G>C (p.Ser152Thr)
c.199G>C
n.701G>C
c.749G>C (p.Ser250Thr)
c.638G>C (p.Ser213Thr)
c.590G>C (p.Ser197Thr)
c.587G>C (p.Ser196Thr)
c.641G>C (p.Ser214Thr)
c.752G>C (p.Ser251Thr)
c.946-211486G>C (n.946-211486G>C)
6g.44230404G>TCA364306134POLR1C,SLC29A1c.512G>T (p.Ser171Ile)
n.910G>T
n.930G>T
c.455G>T (p.Ser152Ile)
c.199G>T
n.701G>T
c.749G>T (p.Ser250Ile)
c.638G>T (p.Ser213Ile)
c.590G>T (p.Ser197Ile)
c.587G>T (p.Ser196Ile)
c.641G>T (p.Ser214Ile)
c.752G>T (p.Ser251Ile)
c.946-211486G>T (n.946-211486G>T)
6g.44230405C>ACA364306135POLR1C,SLC29A1c.513C>A (p.Ser171Arg)
n.911C>A
n.931C>A
c.456C>A (p.Ser152Arg)
c.200C>A
n.702C>A
c.750C>A (p.Ser250Arg)
c.639C>A (p.Ser213Arg)
c.591C>A (p.Ser197Arg)
c.588C>A (p.Ser196Arg)
c.642C>A (p.Ser214Arg)
c.753C>A (p.Ser251Arg)
c.946-211485C>A (n.946-211485C>A)
6g.44230405C>GCA364306136POLR1C,SLC29A1c.513C>G (p.Ser171Arg)
n.911C>G
n.931C>G
c.456C>G (p.Ser152Arg)
c.200C>G
n.702C>G
c.750C>G (p.Ser250Arg)
c.639C>G (p.Ser213Arg)
c.591C>G (p.Ser197Arg)
c.588C>G (p.Ser196Arg)
c.642C>G (p.Ser214Arg)
c.753C>G (p.Ser251Arg)
c.946-211485C>G (n.946-211485C>G)
6g.44230405C>TCA450308400POLR1C,SLC29A1c.513C>T (p.Ser171=)
n.911C>T
n.931C>T
c.456C>T (p.Ser152=)
c.200C>T
n.702C>T
c.750C>T (p.Ser250=)
c.639C>T (p.Ser213=)
c.591C>T (p.Ser197=)
c.588C>T (p.Ser196=)
c.642C>T (p.Ser214=)
c.753C>T (p.Ser251=)
c.946-211485C>T (n.946-211485C>T)
6g.44230406T>ACA364306137POLR1C,SLC29A1c.514T>A (p.Tyr172Asn)
n.912T>A
n.932T>A
c.457T>A (p.Tyr153Asn)
c.201T>A
n.703T>A
c.751T>A (p.Tyr251Asn)
c.640T>A (p.Tyr214Asn)
c.592T>A (p.Tyr198Asn)
c.589T>A (p.Tyr197Asn)
c.643T>A (p.Tyr215Asn)
c.754T>A (p.Tyr252Asn)
c.946-211484T>A (n.946-211484T>A)
6g.44230406T>CCA3831584POLR1C,SLC29A1c.514T>C (p.Tyr172His)
n.912T>C
n.932T>C
c.457T>C (p.Tyr153His)
c.201T>C
n.703T>C
c.751T>C (p.Tyr251His)
c.640T>C (p.Tyr214His)
c.592T>C (p.Tyr198His)
c.589T>C (p.Tyr197His)
c.643T>C (p.Tyr215His)
c.754T>C (p.Tyr252His)
c.946-211484T>C (n.946-211484T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.44230406T>GCA364306138POLR1C,SLC29A1c.514T>G (p.Tyr172Asp)
n.912T>G
n.932T>G
c.457T>G (p.Tyr153Asp)
c.201T>G
n.703T>G
c.751T>G (p.Tyr251Asp)
c.640T>G (p.Tyr214Asp)
c.592T>G (p.Tyr198Asp)
c.589T>G (p.Tyr197Asp)
c.643T>G (p.Tyr215Asp)
c.754T>G (p.Tyr252Asp)
c.946-211484T>G (n.946-211484T>G)
6g.44230406T=CA1624908215POLR1C,SLC29A1c.514T= (p.Tyr172=)
n.912T=
n.932T=
c.457T= (p.Tyr153=)
c.201T=
n.703T=
c.751T= (p.Tyr251=)
c.640T= (p.Tyr214=)
c.592T= (p.Tyr198=)
c.589T= (p.Tyr197=)
c.643T= (p.Tyr215=)
c.754T= (p.Tyr252=)
c.946-211484T= (n.946-211484T=)
6g.44230407A>CCA364306139POLR1C,SLC29A1c.515A>C (p.Tyr172Ser)
n.913A>C
n.933A>C
c.458A>C (p.Tyr153Ser)
c.202A>C
n.704A>C
c.752A>C (p.Tyr251Ser)
c.641A>C (p.Tyr214Ser)
c.593A>C (p.Tyr198Ser)
c.590A>C (p.Tyr197Ser)
c.644A>C (p.Tyr215Ser)
c.755A>C (p.Tyr252Ser)
c.946-211483A>C (n.946-211483A>C)
6g.44230407A>GCA364306140POLR1C,SLC29A1c.515A>G (p.Tyr172Cys)
n.913A>G
n.933A>G
c.458A>G (p.Tyr153Cys)
c.202A>G
n.704A>G
c.752A>G (p.Tyr251Cys)
c.641A>G (p.Tyr214Cys)
c.593A>G (p.Tyr198Cys)
c.590A>G (p.Tyr197Cys)
c.644A>G (p.Tyr215Cys)
c.755A>G (p.Tyr252Cys)
c.946-211483A>G (n.946-211483A>G)
 gnomAD v4
6g.44230407A>TCA364306141POLR1C,SLC29A1c.515A>T (p.Tyr172Phe)
n.913A>T
n.933A>T
c.458A>T (p.Tyr153Phe)
c.202A>T
n.704A>T
c.752A>T (p.Tyr251Phe)
c.641A>T (p.Tyr214Phe)
c.593A>T (p.Tyr198Phe)
c.590A>T (p.Tyr197Phe)
c.644A>T (p.Tyr215Phe)
c.755A>T (p.Tyr252Phe)
c.946-211483A>T (n.946-211483A>T)
6g.44230408delCA2770867111POLR1C,SLC29A1c.516del (p.Tyr172Ter)
n.914del
n.934del
c.459del (p.Tyr153Ter)
c.203del
n.705del
c.753del (p.Tyr251Ter)
c.642del (p.Tyr214Ter)
c.594del (p.Tyr198Ter)
c.591del (p.Tyr197Ter)
c.645del (p.Tyr215Ter)
c.756del (p.Tyr252Ter)
c.946-211482del (n.946-211482del)
6g.44230408C>ACA364306142POLR1C,SLC29A1c.516C>A (p.Tyr172Ter)
n.914C>A
n.934C>A
c.459C>A (p.Tyr153Ter)
c.203C>A
n.705C>A
c.753C>A (p.Tyr251Ter)
c.642C>A (p.Tyr214Ter)
c.594C>A (p.Tyr198Ter)
c.591C>A (p.Tyr197Ter)
c.645C>A (p.Tyr215Ter)
c.756C>A (p.Tyr252Ter)
c.946-211482C>A (n.946-211482C>A)
6g.44230408C>GCA364306143POLR1C,SLC29A1c.516C>G (p.Tyr172Ter)
n.914C>G
n.934C>G
c.459C>G (p.Tyr153Ter)
c.203C>G
n.705C>G
c.753C>G (p.Tyr251Ter)
c.642C>G (p.Tyr214Ter)
c.594C>G (p.Tyr198Ter)
c.591C>G (p.Tyr197Ter)
c.645C>G (p.Tyr215Ter)
c.756C>G (p.Tyr252Ter)
c.946-211482C>G (n.946-211482C>G)
6g.44230408C>TCA450308401POLR1C,SLC29A1c.516C>T (p.Tyr172=)
n.914C>T
n.934C>T
c.459C>T (p.Tyr153=)
c.203C>T
n.705C>T
c.753C>T (p.Tyr251=)
c.642C>T (p.Tyr214=)
c.594C>T (p.Tyr198=)
c.591C>T (p.Tyr197=)
c.645C>T (p.Tyr215=)
c.756C>T (p.Tyr252=)
c.946-211482C>T (n.946-211482C>T)
 gnomAD v4
6g.44230409A>CCA364306144POLR1C,SLC29A1c.517A>C (p.Thr173Pro)
n.915A>C
n.935A>C
c.460A>C (p.Thr154Pro)
c.204A>C
n.706A>C
c.754A>C (p.Thr252Pro)
c.643A>C (p.Thr215Pro)
c.595A>C (p.Thr199Pro)
c.592A>C (p.Thr198Pro)
c.646A>C (p.Thr216Pro)
c.757A>C (p.Thr253Pro)
c.946-211481A>C (n.946-211481A>C)
6g.44230409A>GCA364306146POLR1C,SLC29A1c.517A>G (p.Thr173Ala)
n.915A>G
n.935A>G
c.460A>G (p.Thr154Ala)
c.204A>G
n.706A>G
c.754A>G (p.Thr252Ala)
c.643A>G (p.Thr215Ala)
c.595A>G (p.Thr199Ala)
c.592A>G (p.Thr198Ala)
c.646A>G (p.Thr216Ala)
c.757A>G (p.Thr253Ala)
c.946-211481A>G (n.946-211481A>G)
6g.44230409A>TCA364306145POLR1C,SLC29A1c.517A>T (p.Thr173Ser)
n.915A>T
n.935A>T
c.460A>T (p.Thr154Ser)
c.204A>T
n.706A>T
c.754A>T (p.Thr252Ser)
c.643A>T (p.Thr215Ser)
c.595A>T (p.Thr199Ser)
c.592A>T (p.Thr198Ser)
c.646A>T (p.Thr216Ser)
c.757A>T (p.Thr253Ser)
c.946-211481A>T (n.946-211481A>T)
6g.44230410C>ACA364306147POLR1C,SLC29A1c.518C>A (p.Thr173Lys)
n.916C>A
c.461C>A (p.Thr154Lys)
c.205C>A
n.707C>A
c.755C>A (p.Thr252Lys)
c.644C>A (p.Thr215Lys)
c.596C>A (p.Thr199Lys)
c.593C>A (p.Thr198Lys)
c.647C>A (p.Thr216Lys)
c.758C>A (p.Thr253Lys)
c.946-211480C>A (n.946-211480C>A)
 gnomAD v4
6g.44230410C=CA1624908218POLR1C,SLC29A1c.518C= (p.Thr173=)
n.916C=
c.461C= (p.Thr154=)
c.205C=
n.707C=
c.755C= (p.Thr252=)
c.644C= (p.Thr215=)
c.596C= (p.Thr199=)
c.593C= (p.Thr198=)
c.647C= (p.Thr216=)
c.758C= (p.Thr253=)
c.946-211480C= (n.946-211480C=)
6g.44230410C>GCA364306148POLR1C,SLC29A1c.518C>G (p.Thr173Arg)
n.916C>G
c.461C>G (p.Thr154Arg)
c.205C>G
n.707C>G
c.755C>G (p.Thr252Arg)
c.644C>G (p.Thr215Arg)
c.596C>G (p.Thr199Arg)
c.593C>G (p.Thr198Arg)
c.647C>G (p.Thr216Arg)
c.758C>G (p.Thr253Arg)
c.946-211480C>G (n.946-211480C>G)
6g.44230410C>TCA3831585POLR1C,SLC29A1c.518C>T (p.Thr173Met)
n.916C>T
c.461C>T (p.Thr154Met)
c.205C>T
n.707C>T
c.755C>T (p.Thr252Met)
c.644C>T (p.Thr215Met)
c.596C>T (p.Thr199Met)
c.593C>T (p.Thr198Met)
c.647C>T (p.Thr216Met)
c.758C>T (p.Thr253Met)
c.946-211480C>T (n.946-211480C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.44230411G>ACA3831586POLR1C,SLC29A1c.519G>A (p.Thr173=)
n.917G>A
c.462G>A (p.Thr154=)
c.206G>A
n.708G>A
c.756G>A (p.Thr252=)
c.645G>A (p.Thr215=)
c.597G>A (p.Thr199=)
c.594G>A (p.Thr198=)
c.648G>A (p.Thr216=)
c.759G>A (p.Thr253=)
c.946-211479G>A (n.946-211479G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44230411G>CCA450308402POLR1C,SLC29A1c.519G>C (p.Thr173=)
n.917G>C
c.462G>C (p.Thr154=)
c.206G>C
n.708G>C
c.756G>C (p.Thr252=)
c.645G>C (p.Thr215=)
c.597G>C (p.Thr199=)
c.594G>C (p.Thr198=)
c.648G>C (p.Thr216=)
c.759G>C (p.Thr253=)
c.946-211479G>C (n.946-211479G>C)
6g.44230411G=CA1624908220POLR1C,SLC29A1c.519G= (p.Thr173=)
n.917G=
c.462G= (p.Thr154=)
c.206G=
n.708G=
c.756G= (p.Thr252=)
c.645G= (p.Thr215=)
c.597G= (p.Thr199=)
c.594G= (p.Thr198=)
c.648G= (p.Thr216=)
c.759G= (p.Thr253=)
c.946-211479G= (n.946-211479G=)
6g.44230411G>TCA450308403POLR1C,SLC29A1c.519G>T (p.Thr173=)
n.917G>T
c.462G>T (p.Thr154=)
c.206G>T
n.708G>T
c.756G>T (p.Thr252=)
c.645G>T (p.Thr215=)
c.597G>T (p.Thr199=)
c.594G>T (p.Thr198=)
c.648G>T (p.Thr216=)
c.759G>T (p.Thr253=)
c.946-211479G>T (n.946-211479G>T)
6g.44230412G>ACA364306149POLR1C,SLC29A1c.520G>A (p.Ala174Thr)
n.918G>A
c.463G>A (p.Ala155Thr)
c.207G>A
n.709G>A
c.757G>A (p.Ala253Thr)
c.646G>A (p.Ala216Thr)
c.598G>A (p.Ala200Thr)
c.595G>A (p.Ala199Thr)
c.649G>A (p.Ala217Thr)
c.760G>A (p.Ala254Thr)
c.946-211478G>A (n.946-211478G>A)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.44230412G>CCA364306150POLR1C,SLC29A1c.520G>C (p.Ala174Pro)
n.918G>C
c.463G>C (p.Ala155Pro)
c.207G>C
n.709G>C
c.757G>C (p.Ala253Pro)
c.646G>C (p.Ala216Pro)
c.598G>C (p.Ala200Pro)
c.595G>C (p.Ala199Pro)
c.649G>C (p.Ala217Pro)
c.760G>C (p.Ala254Pro)
c.946-211478G>C (n.946-211478G>C)
 COSMIC COSMIC
6g.44230412G=CA1624908222POLR1C,SLC29A1c.520G= (p.Ala174=)
n.918G=
c.463G= (p.Ala155=)
c.207G=
n.709G=
c.757G= (p.Ala253=)
c.646G= (p.Ala216=)
c.598G= (p.Ala200=)
c.595G= (p.Ala199=)
c.649G= (p.Ala217=)
c.760G= (p.Ala254=)
c.946-211478G= (n.946-211478G=)
6g.44230412G>TCA364306151POLR1C,SLC29A1c.520G>T (p.Ala174Ser)
n.918G>T
c.463G>T (p.Ala155Ser)
c.207G>T
n.709G>T
c.757G>T (p.Ala253Ser)
c.646G>T (p.Ala216Ser)
c.598G>T (p.Ala200Ser)
c.595G>T (p.Ala199Ser)
c.649G>T (p.Ala217Ser)
c.760G>T (p.Ala254Ser)
c.946-211478G>T (n.946-211478G>T)
6g.44230413C>ACA364306152POLR1C,SLC29A1c.521C>A (p.Ala174Asp)
n.919C>A
c.464C>A (p.Ala155Asp)
c.208C>A
n.710C>A
c.758C>A (p.Ala253Asp)
c.647C>A (p.Ala216Asp)
c.599C>A (p.Ala200Asp)
c.596C>A (p.Ala199Asp)
c.650C>A (p.Ala217Asp)
c.761C>A (p.Ala254Asp)
c.946-211477C>A (n.946-211477C>A)
 gnomAD v4
6g.44230413C>GCA364306153POLR1C,SLC29A1c.521C>G (p.Ala174Gly)
n.919C>G
c.464C>G (p.Ala155Gly)
c.208C>G
n.710C>G
c.758C>G (p.Ala253Gly)
c.647C>G (p.Ala216Gly)
c.599C>G (p.Ala200Gly)
c.596C>G (p.Ala199Gly)
c.650C>G (p.Ala217Gly)
c.761C>G (p.Ala254Gly)
c.946-211477C>G (n.946-211477C>G)
6g.44230413C>TCA364306154POLR1C,SLC29A1c.521C>T (p.Ala174Val)
n.919C>T
c.464C>T (p.Ala155Val)
c.208C>T
n.710C>T
c.758C>T (p.Ala253Val)
c.647C>T (p.Ala216Val)
c.599C>T (p.Ala200Val)
c.596C>T (p.Ala199Val)
c.650C>T (p.Ala217Val)
c.761C>T (p.Ala254Val)
c.946-211477C>T (n.946-211477C>T)
 gnomAD v4
6g.44230417dupCA2832549231POLR1C,SLC29A1c.525dup (p.Ile176HisfsTer?)
n.923dup
c.468dup (p.Ile157HisfsTer?)
c.212dup
n.714dup
c.762dup (p.Ile255HisfsTer?)
c.651dup (p.Ile218HisfsTer?)
c.603dup (p.Ile202HisfsTer?)
c.600dup (p.Ile201HisfsTer?)
c.654dup (p.Ile219HisfsTer?)
c.765dup (p.Ile256HisfsTer?)
c.946-211473dup (n.946-211473dup)
6g.44230414C>ACA450308404POLR1C,SLC29A1c.522C>A (p.Ala174=)
n.920C>A
c.465C>A (p.Ala155=)
c.209C>A
n.711C>A
c.759C>A (p.Ala253=)
c.648C>A (p.Ala216=)
c.600C>A (p.Ala200=)
c.597C>A (p.Ala199=)
c.651C>A (p.Ala217=)
c.762C>A (p.Ala254=)
c.946-211476C>A (n.946-211476C>A)
 gnomAD v4
6g.44230414C=CA1624908225POLR1C,SLC29A1c.522C= (p.Ala174=)
n.920C=
c.465C= (p.Ala155=)
c.209C=
n.711C=
c.759C= (p.Ala253=)
c.648C= (p.Ala216=)
c.600C= (p.Ala200=)
c.597C= (p.Ala199=)
c.651C= (p.Ala217=)
c.762C= (p.Ala254=)
c.946-211476C= (n.946-211476C=)
6g.44230414C>GCA450308405POLR1C,SLC29A1c.522C>G (p.Ala174=)
n.920C>G
c.465C>G (p.Ala155=)
c.209C>G
n.711C>G
c.759C>G (p.Ala253=)
c.648C>G (p.Ala216=)
c.600C>G (p.Ala200=)
c.597C>G (p.Ala199=)
c.651C>G (p.Ala217=)
c.762C>G (p.Ala254=)
c.946-211476C>G (n.946-211476C>G)
6g.44230414C>TCA450308406POLR1C,SLC29A1c.522C>T (p.Ala174=)
n.920C>T
c.465C>T (p.Ala155=)
c.209C>T
n.711C>T
c.759C>T (p.Ala253=)
c.648C>T (p.Ala216=)
c.600C>T (p.Ala200=)
c.597C>T (p.Ala199=)
c.651C>T (p.Ala217=)
c.762C>T (p.Ala254=)
c.946-211476C>T (n.946-211476C>T)
 dbSNP gnomAD v4
6g.44230415C>ACA364306155POLR1C,SLC29A1c.523C>A (p.Pro175Thr)
n.921C>A
c.466C>A (p.Pro156Thr)
c.210C>A
n.712C>A
c.760C>A (p.Pro254Thr)
c.649C>A (p.Pro217Thr)
c.601C>A (p.Pro201Thr)
c.598C>A (p.Pro200Thr)
c.652C>A (p.Pro218Thr)
c.763C>A (p.Pro255Thr)
c.946-211475C>A (n.946-211475C>A)
6g.44230415C=CA1624908227POLR1C,SLC29A1c.523C= (p.Pro175=)
n.921C=
c.466C= (p.Pro156=)
c.210C=
n.712C=
c.760C= (p.Pro254=)
c.649C= (p.Pro217=)
c.601C= (p.Pro201=)
c.598C= (p.Pro200=)
c.652C= (p.Pro218=)
c.763C= (p.Pro255=)
c.946-211475C= (n.946-211475C=)
6g.44230415C>GCA364306156POLR1C,SLC29A1c.523C>G (p.Pro175Ala)
n.921C>G
c.466C>G (p.Pro156Ala)
c.210C>G
n.712C>G
c.760C>G (p.Pro254Ala)
c.649C>G (p.Pro217Ala)
c.601C>G (p.Pro201Ala)
c.598C>G (p.Pro200Ala)
c.652C>G (p.Pro218Ala)
c.763C>G (p.Pro255Ala)
c.946-211475C>G (n.946-211475C>G)
6g.44230415C>TCA3831587POLR1C,SLC29A1c.523C>T (p.Pro175Ser)
n.921C>T
c.466C>T (p.Pro156Ser)
c.210C>T
n.712C>T
c.760C>T (p.Pro254Ser)
c.649C>T (p.Pro217Ser)
c.601C>T (p.Pro201Ser)
c.598C>T (p.Pro200Ser)
c.652C>T (p.Pro218Ser)
c.763C>T (p.Pro255Ser)
c.946-211475C>T (n.946-211475C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.44230416C>ACA364306157POLR1C,SLC29A1c.524C>A (p.Pro175His)
n.922C>A
c.467C>A (p.Pro156His)
c.211C>A
n.713C>A
c.761C>A (p.Pro254His)
c.650C>A (p.Pro217His)
c.602C>A (p.Pro201His)
c.599C>A (p.Pro200His)
c.653C>A (p.Pro218His)
c.764C>A (p.Pro255His)
c.946-211474C>A (n.946-211474C>A)
6g.44230416C=CA1624908229POLR1C,SLC29A1c.524C= (p.Pro175=)
n.922C=
c.467C= (p.Pro156=)
c.211C=
n.713C=
c.761C= (p.Pro254=)
c.650C= (p.Pro217=)
c.602C= (p.Pro201=)
c.599C= (p.Pro200=)
c.653C= (p.Pro218=)
c.764C= (p.Pro255=)
c.946-211474C= (n.946-211474C=)
6g.44230416C>GCA364306159POLR1C,SLC29A1c.524C>G (p.Pro175Arg)
n.922C>G
c.467C>G (p.Pro156Arg)
c.211C>G
n.713C>G
c.761C>G (p.Pro254Arg)
c.650C>G (p.Pro217Arg)
c.602C>G (p.Pro201Arg)
c.599C>G (p.Pro200Arg)
c.653C>G (p.Pro218Arg)
c.764C>G (p.Pro255Arg)
c.946-211474C>G (n.946-211474C>G)
6g.44230416C>TCA364306158POLR1C,SLC29A1c.524C>T (p.Pro175Leu)
n.922C>T
c.467C>T (p.Pro156Leu)
c.211C>T
n.713C>T
c.761C>T (p.Pro254Leu)
c.650C>T (p.Pro217Leu)
c.602C>T (p.Pro201Leu)
c.599C>T (p.Pro200Leu)
c.653C>T (p.Pro218Leu)
c.764C>T (p.Pro255Leu)
c.946-211474C>T (n.946-211474C>T)
 dbSNP gnomAD v2 gnomAD v4
6g.44230417C>ACA450308408POLR1C,SLC29A1c.525C>A (p.Pro175=)
n.923C>A
c.468C>A (p.Pro156=)
c.212C>A
n.714C>A
c.762C>A (p.Pro254=)
c.651C>A (p.Pro217=)
c.603C>A (p.Pro201=)
c.600C>A (p.Pro200=)
c.654C>A (p.Pro218=)
c.765C>A (p.Pro255=)
c.946-211473C>A (n.946-211473C>A)
6g.44230417C=CA1624908232POLR1C,SLC29A1c.525C= (p.Pro175=)
n.923C=
c.468C= (p.Pro156=)
c.212C=
n.714C=
c.762C= (p.Pro254=)
c.651C= (p.Pro217=)
c.603C= (p.Pro201=)
c.600C= (p.Pro200=)
c.654C= (p.Pro218=)
c.765C= (p.Pro255=)
c.946-211473C= (n.946-211473C=)
6g.44230417C>GCA450308407POLR1C,SLC29A1c.525C>G (p.Pro175=)
n.923C>G
c.468C>G (p.Pro156=)
c.212C>G
n.714C>G
c.762C>G (p.Pro254=)
c.651C>G (p.Pro217=)
c.603C>G (p.Pro201=)
c.600C>G (p.Pro200=)
c.654C>G (p.Pro218=)
c.765C>G (p.Pro255=)
c.946-211473C>G (n.946-211473C>G)
6g.44230417C>TCA3831588POLR1C,SLC29A1c.525C>T (p.Pro175=)
n.923C>T
c.468C>T (p.Pro156=)
c.212C>T
n.714C>T
c.762C>T (p.Pro254=)
c.651C>T (p.Pro217=)
c.603C>T (p.Pro201=)
c.600C>T (p.Pro200=)
c.654C>T (p.Pro218=)
c.765C>T (p.Pro255=)
c.946-211473C>T (n.946-211473C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.44230418A=CA1624908235POLR1C,SLC29A1c.526A= (p.Ile176=)
n.924A=
c.469A= (p.Ile157=)
c.213A=
n.715A=
c.763A= (p.Ile255=)
c.652A= (p.Ile218=)
c.604A= (p.Ile202=)
c.601A= (p.Ile201=)
c.655A= (p.Ile219=)
c.766A= (p.Ile256=)
c.946-211472A= (n.946-211472A=)
6g.44230418A>CCA364306160POLR1C,SLC29A1c.526A>C (p.Ile176Leu)
n.924A>C
c.469A>C (p.Ile157Leu)
c.213A>C
n.715A>C
c.763A>C (p.Ile255Leu)
c.652A>C (p.Ile218Leu)
c.604A>C (p.Ile202Leu)
c.601A>C (p.Ile201Leu)
c.655A>C (p.Ile219Leu)
c.766A>C (p.Ile256Leu)
c.946-211472A>C (n.946-211472A>C)
6g.44230418A>GCA364306161POLR1C,SLC29A1c.526A>G (p.Ile176Val)
n.924A>G
c.469A>G (p.Ile157Val)
c.213A>G
n.715A>G
c.763A>G (p.Ile255Val)
c.652A>G (p.Ile218Val)
c.604A>G (p.Ile202Val)
c.601A>G (p.Ile201Val)
c.655A>G (p.Ile219Val)
c.766A>G (p.Ile256Val)
c.946-211472A>G (n.946-211472A>G)
 dbSNP gnomAD v3 gnomAD v4
6g.44230418A>TCA364306162POLR1C,SLC29A1c.526A>T (p.Ile176Phe)
n.924A>T
c.469A>T (p.Ile157Phe)
c.213A>T
n.715A>T
c.763A>T (p.Ile255Phe)
c.652A>T (p.Ile218Phe)
c.604A>T (p.Ile202Phe)
c.601A>T (p.Ile201Phe)
c.655A>T (p.Ile219Phe)
c.766A>T (p.Ile256Phe)
c.946-211472A>T (n.946-211472A>T)
6g.44230419T>ACA364306163POLR1C,SLC29A1c.527T>A (p.Ile176Asn)
n.925T>A
c.470T>A (p.Ile157Asn)
c.214T>A
n.716T>A
c.764T>A (p.Ile255Asn)
c.653T>A (p.Ile218Asn)
c.605T>A (p.Ile202Asn)
c.602T>A (p.Ile201Asn)
c.656T>A (p.Ile219Asn)
c.767T>A (p.Ile256Asn)
c.946-211471T>A (n.946-211471T>A)
6g.44230419T>CCA364306164POLR1C,SLC29A1c.527T>C (p.Ile176Thr)
n.925T>C
c.470T>C (p.Ile157Thr)
c.214T>C
n.716T>C
c.764T>C (p.Ile255Thr)
c.653T>C (p.Ile218Thr)
c.605T>C (p.Ile202Thr)
c.602T>C (p.Ile201Thr)
c.656T>C (p.Ile219Thr)
c.767T>C (p.Ile256Thr)
c.946-211471T>C (n.946-211471T>C)
6g.44230419T>GCA364306165POLR1C,SLC29A1c.527T>G (p.Ile176Ser)
n.925T>G
c.470T>G (p.Ile157Ser)
c.214T>G
n.716T>G
c.764T>G (p.Ile255Ser)
c.653T>G (p.Ile218Ser)
c.605T>G (p.Ile202Ser)
c.602T>G (p.Ile201Ser)
c.656T>G (p.Ile219Ser)
c.767T>G (p.Ile256Ser)
c.946-211471T>G (n.946-211471T>G)
6g.44230420C>ACA450308409POLR1C,SLC29A1c.528C>A (p.Ile176=)
n.926C>A
c.471C>A (p.Ile157=)
c.215C>A
n.717C>A
c.765C>A (p.Ile255=)
c.654C>A (p.Ile218=)
c.606C>A (p.Ile202=)
c.603C>A (p.Ile201=)
c.657C>A (p.Ile219=)
c.768C>A (p.Ile256=)
c.946-211470C>A (n.946-211470C>A)
6g.44230420C=CA1624908237POLR1C,SLC29A1c.528C= (p.Ile176=)
n.926C=
c.471C= (p.Ile157=)
c.215C=
n.717C=
c.765C= (p.Ile255=)
c.654C= (p.Ile218=)
c.606C= (p.Ile202=)
c.603C= (p.Ile201=)
c.657C= (p.Ile219=)
c.768C= (p.Ile256=)
c.946-211470C= (n.946-211470C=)
6g.44230420C>GCA364306166POLR1C,SLC29A1c.528C>G (p.Ile176Met)
n.926C>G
c.471C>G (p.Ile157Met)
c.215C>G
n.717C>G
c.765C>G (p.Ile255Met)
c.654C>G (p.Ile218Met)
c.606C>G (p.Ile202Met)
c.603C>G (p.Ile201Met)
c.657C>G (p.Ile219Met)
c.768C>G (p.Ile256Met)
c.946-211470C>G (n.946-211470C>G)
6g.44230420C>TCA138375182POLR1C,SLC29A1c.528C>T (p.Ile176=)
n.926C>T
c.471C>T (p.Ile157=)
c.215C>T
n.717C>T
c.765C>T (p.Ile255=)
c.654C>T (p.Ile218=)
c.606C>T (p.Ile202=)
c.603C>T (p.Ile201=)
c.657C>T (p.Ile219=)
c.768C>T (p.Ile256=)
c.946-211470C>T (n.946-211470C>T)
 dbSNP
6g.44230421A>CCA364306169POLR1C,SLC29A1c.529A>C (p.Met177Leu)
n.927A>C
c.472A>C (p.Met158Leu)
c.216A>C
n.718A>C
c.766A>C (p.Met256Leu)
c.655A>C (p.Met219Leu)
c.607A>C (p.Met203Leu)
c.604A>C (p.Met202Leu)
c.658A>C (p.Met220Leu)
c.769A>C (p.Met257Leu)
c.946-211469A>C (n.946-211469A>C)
6g.44230421A>GCA364306168POLR1C,SLC29A1c.529A>G (p.Met177Val)
n.927A>G
c.472A>G (p.Met158Val)
c.216A>G
n.718A>G
c.766A>G (p.Met256Val)
c.655A>G (p.Met219Val)
c.607A>G (p.Met203Val)
c.604A>G (p.Met202Val)
c.658A>G (p.Met220Val)
c.769A>G (p.Met257Val)
c.946-211469A>G (n.946-211469A>G)
 gnomAD v4
6g.44230421A>TCA364306167POLR1C,SLC29A1c.529A>T (p.Met177Leu)
n.927A>T
c.472A>T (p.Met158Leu)
c.216A>T
n.718A>T
c.766A>T (p.Met256Leu)
c.655A>T (p.Met219Leu)
c.607A>T (p.Met203Leu)
c.604A>T (p.Met202Leu)
c.658A>T (p.Met220Leu)
c.769A>T (p.Met257Leu)
c.946-211469A>T (n.946-211469A>T)
6g.44230422T>ACA364306170POLR1C,SLC29A1c.530T>A (p.Met177Lys)
n.928T>A
c.473T>A (p.Met158Lys)
c.217T>A
n.719T>A
c.767T>A (p.Met256Lys)
c.656T>A (p.Met219Lys)
c.608T>A (p.Met203Lys)
c.605T>A (p.Met202Lys)
c.659T>A (p.Met220Lys)
c.770T>A (p.Met257Lys)
c.946-211468T>A (n.946-211468T>A)
6g.44230422T>CCA364306171POLR1C,SLC29A1c.530T>C (p.Met177Thr)
n.928T>C
c.473T>C (p.Met158Thr)
c.217T>C
n.719T>C
c.767T>C (p.Met256Thr)
c.656T>C (p.Met219Thr)
c.608T>C (p.Met203Thr)
c.605T>C (p.Met202Thr)
c.659T>C (p.Met220Thr)
c.770T>C (p.Met257Thr)
c.946-211468T>C (n.946-211468T>C)
 gnomAD v4
6g.44230422T>GCA364306172POLR1C,SLC29A1c.530T>G (p.Met177Arg)
n.928T>G
c.473T>G (p.Met158Arg)
c.217T>G
n.719T>G
c.767T>G (p.Met256Arg)
c.656T>G (p.Met219Arg)
c.608T>G (p.Met203Arg)
c.605T>G (p.Met202Arg)
c.659T>G (p.Met220Arg)
c.770T>G (p.Met257Arg)
c.946-211468T>G (n.946-211468T>G)
6g.44230423G>ACA364306173POLR1C,SLC29A1c.531G>A (p.Met177Ile)
n.929G>A
c.474G>A (p.Met158Ile)
c.218G>A
n.720G>A
c.768G>A (p.Met256Ile)
c.657G>A (p.Met219Ile)
c.609G>A (p.Met203Ile)
c.606G>A (p.Met202Ile)
c.660G>A (p.Met220Ile)
c.771G>A (p.Met257Ile)
c.946-211467G>A (n.946-211467G>A)
6g.44230423G>CCA364306174POLR1C,SLC29A1c.531G>C (p.Met177Ile)
n.929G>C
c.474G>C (p.Met158Ile)
c.218G>C
n.720G>C
c.768G>C (p.Met256Ile)
c.657G>C (p.Met219Ile)
c.609G>C (p.Met203Ile)
c.606G>C (p.Met202Ile)
c.660G>C (p.Met220Ile)
c.771G>C (p.Met257Ile)
c.946-211467G>C (n.946-211467G>C)
6g.44230423G>TCA364306175POLR1C,SLC29A1c.531G>T (p.Met177Ile)
n.929G>T
c.474G>T (p.Met158Ile)
c.218G>T
n.720G>T
c.768G>T (p.Met256Ile)
c.657G>T (p.Met219Ile)
c.609G>T (p.Met203Ile)
c.606G>T (p.Met202Ile)
c.660G>T (p.Met220Ile)
c.771G>T (p.Met257Ile)
c.946-211467G>T (n.946-211467G>T)
6g.44230424A>CCA364306178POLR1C,SLC29A1c.532A>C (p.Ser178Arg)
c.532A>C
n.930A>C
c.475A>C (p.Ser159Arg)
c.219A>C
n.721A>C
c.769A>C (p.Ser257Arg)
c.658A>C (p.Ser220Arg)
c.610A>C (p.Ser204Arg)
c.607A>C (p.Ser203Arg)
c.661A>C (p.Ser221Arg)
c.772A>C (p.Ser258Arg)
c.946-211466A>C (n.946-211466A>C)
6g.44230424A>GCA364306176POLR1C,SLC29A1c.532A>G (p.Ser178Gly)
c.532A>G
n.930A>G
c.475A>G (p.Ser159Gly)
c.219A>G
n.721A>G
c.769A>G (p.Ser257Gly)
c.658A>G (p.Ser220Gly)
c.610A>G (p.Ser204Gly)
c.607A>G (p.Ser203Gly)
c.661A>G (p.Ser221Gly)
c.772A>G (p.Ser258Gly)
c.946-211466A>G (n.946-211466A>G)
6g.44230424A>TCA364306177POLR1C,SLC29A1c.532A>T (p.Ser178Cys)
c.532A>T
n.930A>T
c.475A>T (p.Ser159Cys)
c.219A>T
n.721A>T
c.769A>T (p.Ser257Cys)
c.658A>T (p.Ser220Cys)
c.610A>T (p.Ser204Cys)
c.607A>T (p.Ser203Cys)
c.661A>T (p.Ser221Cys)
c.772A>T (p.Ser258Cys)
c.946-211466A>T (n.946-211466A>T)
6g.44230425G>ACA364306179POLR1C,SLC29A1c.533G>A (p.Ser178Asn)
n.931G>A
c.476G>A (p.Ser159Asn)
c.220G>A
n.722G>A
c.770G>A (p.Ser257Asn)
c.659G>A (p.Ser220Asn)
c.611G>A (p.Ser204Asn)
c.608G>A (p.Ser203Asn)
c.662G>A (p.Ser221Asn)
c.773G>A (p.Ser258Asn)
c.946-211465G>A (n.946-211465G>A)
6g.44230425G>CCA364306180POLR1C,SLC29A1c.533G>C (p.Ser178Thr)
n.931G>C
c.476G>C (p.Ser159Thr)
c.220G>C
n.722G>C
c.770G>C (p.Ser257Thr)
c.659G>C (p.Ser220Thr)
c.611G>C (p.Ser204Thr)
c.608G>C (p.Ser203Thr)
c.662G>C (p.Ser221Thr)
c.773G>C (p.Ser258Thr)
c.946-211465G>C (n.946-211465G>C)
6g.44230425G>TCA364306181POLR1C,SLC29A1c.533G>T (p.Ser178Ile)
n.931G>T
c.476G>T (p.Ser159Ile)
c.220G>T
n.722G>T
c.770G>T (p.Ser257Ile)
c.659G>T (p.Ser220Ile)
c.611G>T (p.Ser204Ile)
c.608G>T (p.Ser203Ile)
c.662G>T (p.Ser221Ile)
c.773G>T (p.Ser258Ile)
c.946-211465G>T (n.946-211465G>T)
6g.44230426T>ACA364306182POLR1C,SLC29A1c.534T>A (p.Ser178Arg)
n.932T>A
c.477T>A (p.Ser159Arg)
c.221T>A
n.723T>A
c.771T>A (p.Ser257Arg)
c.660T>A (p.Ser220Arg)
c.612T>A (p.Ser204Arg)
c.609T>A (p.Ser203Arg)
c.663T>A (p.Ser221Arg)
c.774T>A (p.Ser258Arg)
c.946-211464T>A (n.946-211464T>A)
6g.44230426T>CCA450308410POLR1C,SLC29A1c.534T>C (p.Ser178=)
n.932T>C
c.477T>C (p.Ser159=)
c.221T>C
n.723T>C
c.771T>C (p.Ser257=)
c.660T>C (p.Ser220=)
c.612T>C (p.Ser204=)
c.609T>C (p.Ser203=)
c.663T>C (p.Ser221=)
c.774T>C (p.Ser258=)
c.946-211464T>C (n.946-211464T>C)
 gnomAD v4
6g.44230426T>GCA364306183POLR1C,SLC29A1c.534T>G (p.Ser178Arg)
n.932T>G
c.477T>G (p.Ser159Arg)
c.221T>G
n.723T>G
c.771T>G (p.Ser257Arg)
c.660T>G (p.Ser220Arg)
c.612T>G (p.Ser204Arg)
c.609T>G (p.Ser203Arg)
c.663T>G (p.Ser221Arg)
c.774T>G (p.Ser258Arg)
c.946-211464T>G (n.946-211464T>G)
 gnomAD v4
6g.44230427G>ACA364306184POLR1C,SLC29A1c.535G>A (p.Gly179Ser)
n.933G>A
c.478G>A (p.Gly160Ser)
c.222G>A
n.724G>A
c.772G>A (p.Gly258Ser)
c.661G>A (p.Gly221Ser)
c.613G>A (p.Gly205Ser)
c.610G>A (p.Gly204Ser)
c.664G>A (p.Gly222Ser)
c.775G>A (p.Gly259Ser)
c.946-211463G>A (n.946-211463G>A)
6g.44230427G>CCA364306186POLR1C,SLC29A1c.535G>C (p.Gly179Arg)
n.933G>C
c.478G>C (p.Gly160Arg)
c.222G>C
n.724G>C
c.772G>C (p.Gly258Arg)
c.661G>C (p.Gly221Arg)
c.613G>C (p.Gly205Arg)
c.610G>C (p.Gly204Arg)
c.664G>C (p.Gly222Arg)
c.775G>C (p.Gly259Arg)
c.946-211463G>C (n.946-211463G>C)
6g.44230427G>TCA364306185POLR1C,SLC29A1c.535G>T (p.Gly179Cys)
n.933G>T
c.478G>T (p.Gly160Cys)
c.222G>T
n.724G>T
c.772G>T (p.Gly258Cys)
c.661G>T (p.Gly221Cys)
c.613G>T (p.Gly205Cys)
c.610G>T (p.Gly204Cys)
c.664G>T (p.Gly222Cys)
c.775G>T (p.Gly259Cys)
c.946-211463G>T (n.946-211463G>T)
6g.44230428G>ACA364306187POLR1C,SLC29A1c.536G>A (p.Gly179Asp)
n.934G>A
c.479G>A (p.Gly160Asp)
c.223G>A
n.725G>A
c.773G>A (p.Gly258Asp)
c.662G>A (p.Gly221Asp)
c.614G>A (p.Gly205Asp)
c.611G>A (p.Gly204Asp)
c.665G>A (p.Gly222Asp)
c.776G>A (p.Gly259Asp)
c.946-211462G>A (n.946-211462G>A)
 gnomAD v4
6g.44230428G>CCA364306188POLR1C,SLC29A1c.536G>C (p.Gly179Ala)
n.934G>C
c.479G>C (p.Gly160Ala)
c.223G>C
n.725G>C
c.773G>C (p.Gly258Ala)
c.662G>C (p.Gly221Ala)
c.614G>C (p.Gly205Ala)
c.611G>C (p.Gly204Ala)
c.665G>C (p.Gly222Ala)
c.776G>C (p.Gly259Ala)
c.946-211462G>C (n.946-211462G>C)
6g.44230428G>TCA364306189POLR1C,SLC29A1c.536G>T (p.Gly179Val)
n.934G>T
c.479G>T (p.Gly160Val)
c.223G>T
n.725G>T
c.773G>T (p.Gly258Val)
c.662G>T (p.Gly221Val)
c.614G>T (p.Gly205Val)
c.611G>T (p.Gly204Val)
c.665G>T (p.Gly222Val)
c.776G>T (p.Gly259Val)
c.946-211462G>T (n.946-211462G>T)
6g.44230429C>ACA450308411POLR1C,SLC29A1c.537C>A (p.Gly179=)
n.935C>A
c.480C>A (p.Gly160=)
c.224C>A
n.726C>A
c.774C>A (p.Gly258=)
c.663C>A (p.Gly221=)
c.615C>A (p.Gly205=)
c.612C>A (p.Gly204=)
c.666C>A (p.Gly222=)
c.777C>A (p.Gly259=)
c.946-211461C>A (n.946-211461C>A)
6g.44230429C>GCA450308412POLR1C,SLC29A1c.537C>G (p.Gly179=)
n.935C>G
c.480C>G (p.Gly160=)
c.224C>G
n.726C>G
c.774C>G (p.Gly258=)
c.663C>G (p.Gly221=)
c.615C>G (p.Gly205=)
c.612C>G (p.Gly204=)
c.666C>G (p.Gly222=)
c.777C>G (p.Gly259=)
c.946-211461C>G (n.946-211461C>G)
6g.44230429C>TCA450308413POLR1C,SLC29A1c.537C>T (p.Gly179=)
n.935C>T
c.480C>T (p.Gly160=)
c.224C>T
n.726C>T
c.774C>T (p.Gly258=)
c.663C>T (p.Gly221=)
c.615C>T (p.Gly205=)
c.612C>T (p.Gly204=)
c.666C>T (p.Gly222=)
c.777C>T (p.Gly259=)
c.946-211461C>T (n.946-211461C>T)
6g.44230430C>ACA364306190POLR1C,SLC29A1c.538C>A (p.Gln180Lys)
n.936C>A
c.481C>A (p.Gln161Lys)
c.225C>A
n.727C>A
c.775C>A (p.Gln259Lys)
c.664C>A (p.Gln222Lys)
c.616C>A (p.Gln206Lys)
c.613C>A (p.Gln205Lys)
c.667C>A (p.Gln223Lys)
c.778C>A (p.Gln260Lys)
c.946-211460C>A (n.946-211460C>A)
6g.44230430C>GCA364306191POLR1C,SLC29A1c.538C>G (p.Gln180Glu)
n.936C>G
c.481C>G (p.Gln161Glu)
c.225C>G
n.727C>G
c.775C>G (p.Gln259Glu)
c.664C>G (p.Gln222Glu)
c.616C>G (p.Gln206Glu)
c.613C>G (p.Gln205Glu)
c.667C>G (p.Gln223Glu)
c.778C>G (p.Gln260Glu)
c.946-211460C>G (n.946-211460C>G)
6g.44230430C>TCA364306192POLR1C,SLC29A1c.538C>T (p.Gln180Ter)
n.936C>T
c.481C>T (p.Gln161Ter)
c.225C>T
n.727C>T
c.775C>T (p.Gln259Ter)
c.664C>T (p.Gln222Ter)
c.616C>T (p.Gln206Ter)
c.613C>T (p.Gln205Ter)
c.667C>T (p.Gln223Ter)
c.778C>T (p.Gln260Ter)
c.946-211460C>T (n.946-211460C>T)
6g.44230431A>CCA364306193POLR1C,SLC29A1c.539A>C (p.Gln180Pro)
n.937A>C
c.482A>C (p.Gln161Pro)
c.226A>C
n.728A>C
c.776A>C (p.Gln259Pro)
c.665A>C (p.Gln222Pro)
c.617A>C (p.Gln206Pro)
c.614A>C (p.Gln205Pro)
c.668A>C (p.Gln223Pro)
c.779A>C (p.Gln260Pro)
c.946-211459A>C (n.946-211459A>C)
6g.44230431A>GCA364306194POLR1C,SLC29A1c.539A>G (p.Gln180Arg)
n.937A>G
c.482A>G (p.Gln161Arg)
c.226A>G
n.728A>G
c.776A>G (p.Gln259Arg)
c.665A>G (p.Gln222Arg)
c.617A>G (p.Gln206Arg)
c.614A>G (p.Gln205Arg)
c.668A>G (p.Gln223Arg)
c.779A>G (p.Gln260Arg)
c.946-211459A>G (n.946-211459A>G)
6g.44230431A>TCA364306195POLR1C,SLC29A1c.539A>T (p.Gln180Leu)
n.937A>T
c.482A>T (p.Gln161Leu)
c.226A>T
n.728A>T
c.776A>T (p.Gln259Leu)
c.665A>T (p.Gln222Leu)
c.617A>T (p.Gln206Leu)
c.614A>T (p.Gln205Leu)
c.668A>T (p.Gln223Leu)
c.779A>T (p.Gln260Leu)
c.946-211459A>T (n.946-211459A>T)
6g.44230432G>ACA450308414POLR1C,SLC29A1c.540G>A (p.Gln180=)
n.938G>A
c.483G>A (p.Gln161=)
c.227G>A
n.729G>A
c.777G>A (p.Gln259=)
c.666G>A (p.Gln222=)
c.618G>A (p.Gln206=)
c.615G>A (p.Gln205=)
c.669G>A (p.Gln223=)
c.780G>A (p.Gln260=)
c.946-211458G>A (n.946-211458G>A)
6g.44230432G>CCA364306196POLR1C,SLC29A1c.540G>C (p.Gln180His)
n.938G>C
c.483G>C (p.Gln161His)
c.227G>C
n.729G>C
c.777G>C (p.Gln259His)
c.666G>C (p.Gln222His)
c.618G>C (p.Gln206His)
c.615G>C (p.Gln205His)
c.669G>C (p.Gln223His)
c.780G>C (p.Gln260His)
c.946-211458G>C (n.946-211458G>C)
6g.44230432G>TCA364306197POLR1C,SLC29A1c.540G>T (p.Gln180His)
n.938G>T
c.483G>T (p.Gln161His)
c.227G>T
n.729G>T
c.777G>T (p.Gln259His)
c.666G>T (p.Gln222His)
c.618G>T (p.Gln206His)
c.615G>T (p.Gln205His)
c.669G>T (p.Gln223His)
c.780G>T (p.Gln260His)
c.946-211458G>T (n.946-211458G>T)

Number of alleles fetched