Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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)
6g.44230433G>ACA364306199POLR1C,SLC29A1c.541G>A (p.Gly181Ser)
n.939G>A
c.484G>A (p.Gly162Ser)
c.228G>A
n.730G>A
c.778G>A (p.Gly260Ser)
c.667G>A (p.Gly223Ser)
c.619G>A (p.Gly207Ser)
c.616G>A (p.Gly206Ser)
c.670G>A (p.Gly224Ser)
c.781G>A (p.Gly261Ser)
c.946-211457G>A (n.946-211457G>A)
6g.44230433G>CCA364306200POLR1C,SLC29A1c.541G>C (p.Gly181Arg)
n.939G>C
c.484G>C (p.Gly162Arg)
c.228G>C
n.730G>C
c.778G>C (p.Gly260Arg)
c.667G>C (p.Gly223Arg)
c.619G>C (p.Gly207Arg)
c.616G>C (p.Gly206Arg)
c.670G>C (p.Gly224Arg)
c.781G>C (p.Gly261Arg)
c.946-211457G>C (n.946-211457G>C)
6g.44230433G>TCA364306198POLR1C,SLC29A1c.541G>T (p.Gly181Cys)
n.939G>T
c.484G>T (p.Gly162Cys)
c.228G>T
n.730G>T
c.778G>T (p.Gly260Cys)
c.667G>T (p.Gly223Cys)
c.619G>T (p.Gly207Cys)
c.616G>T (p.Gly206Cys)
c.670G>T (p.Gly224Cys)
c.781G>T (p.Gly261Cys)
c.946-211457G>T (n.946-211457G>T)
6g.44230434G>ACA364306202POLR1C,SLC29A1c.542G>A (p.Gly181Asp)
n.940G>A
c.485G>A (p.Gly162Asp)
c.229G>A
n.731G>A
c.779G>A (p.Gly260Asp)
c.668G>A (p.Gly223Asp)
c.620G>A (p.Gly207Asp)
c.617G>A (p.Gly206Asp)
c.671G>A (p.Gly224Asp)
c.782G>A (p.Gly261Asp)
c.946-211456G>A (n.946-211456G>A)
6g.44230434G>CCA364306201POLR1C,SLC29A1c.542G>C (p.Gly181Ala)
n.940G>C
c.485G>C (p.Gly162Ala)
c.229G>C
n.731G>C
c.779G>C (p.Gly260Ala)
c.668G>C (p.Gly223Ala)
c.620G>C (p.Gly207Ala)
c.617G>C (p.Gly206Ala)
c.671G>C (p.Gly224Ala)
c.782G>C (p.Gly261Ala)
c.946-211456G>C (n.946-211456G>C)
 dbSNP gnomAD v3 gnomAD v4
6g.44230434G=CA1624908239POLR1C,SLC29A1c.542G= (p.Gly181=)
n.940G=
c.485G= (p.Gly162=)
c.229G=
n.731G=
c.779G= (p.Gly260=)
c.668G= (p.Gly223=)
c.620G= (p.Gly207=)
c.617G= (p.Gly206=)
c.671G= (p.Gly224=)
c.782G= (p.Gly261=)
c.946-211456G= (n.946-211456G=)
6g.44230434G>TCA364306203POLR1C,SLC29A1c.542G>T (p.Gly181Val)
n.940G>T
c.485G>T (p.Gly162Val)
c.229G>T
n.731G>T
c.779G>T (p.Gly260Val)
c.668G>T (p.Gly223Val)
c.620G>T (p.Gly207Val)
c.617G>T (p.Gly206Val)
c.671G>T (p.Gly224Val)
c.782G>T (p.Gly261Val)
c.946-211456G>T (n.946-211456G>T)
6g.44230435C>ACA450308415POLR1C,SLC29A1c.543C>A (p.Gly181=)
n.941C>A
c.486C>A (p.Gly162=)
c.230C>A
n.732C>A
c.780C>A (p.Gly260=)
c.669C>A (p.Gly223=)
c.621C>A (p.Gly207=)
c.618C>A (p.Gly206=)
c.672C>A (p.Gly224=)
c.783C>A (p.Gly261=)
c.946-211455C>A (n.946-211455C>A)
6g.44230435C=CA1624908242POLR1C,SLC29A1c.543C= (p.Gly181=)
n.941C=
c.486C= (p.Gly162=)
c.230C=
n.732C=
c.780C= (p.Gly260=)
c.669C= (p.Gly223=)
c.621C= (p.Gly207=)
c.618C= (p.Gly206=)
c.672C= (p.Gly224=)
c.783C= (p.Gly261=)
c.946-211455C= (n.946-211455C=)
6g.44230435C>GCA450308416POLR1C,SLC29A1c.543C>G (p.Gly181=)
n.941C>G
c.486C>G (p.Gly162=)
c.230C>G
n.732C>G
c.780C>G (p.Gly260=)
c.669C>G (p.Gly223=)
c.621C>G (p.Gly207=)
c.618C>G (p.Gly206=)
c.672C>G (p.Gly224=)
c.783C>G (p.Gly261=)
c.946-211455C>G (n.946-211455C>G)
6g.44230435C>TCA138375184POLR1C,SLC29A1c.543C>T (p.Gly181=)
n.941C>T
c.486C>T (p.Gly162=)
c.230C>T
n.732C>T
c.780C>T (p.Gly260=)
c.669C>T (p.Gly223=)
c.621C>T (p.Gly207=)
c.618C>T (p.Gly206=)
c.672C>T (p.Gly224=)
c.783C>T (p.Gly261=)
c.946-211455C>T (n.946-211455C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.44230436delCA2678935186POLR1C,SLC29A1c.544del (p.Leu182Ter)
n.942del
c.487del (p.Leu163Ter)
c.231del
n.733del
c.781del (p.Leu261Ter)
c.670del (p.Leu224Ter)
c.622del (p.Leu208Ter)
c.619del (p.Leu207Ter)
c.673del (p.Leu225Ter)
c.784del (p.Leu262Ter)
c.946-211454del (n.946-211454del)
 gnomAD v4
6g.44230436C>ACA364306204POLR1C,SLC29A1c.544C>A (p.Leu182Ile)
n.942C>A
c.487C>A (p.Leu163Ile)
c.231C>A
n.733C>A
c.781C>A (p.Leu261Ile)
c.670C>A (p.Leu224Ile)
c.622C>A (p.Leu208Ile)
c.619C>A (p.Leu207Ile)
c.673C>A (p.Leu225Ile)
c.784C>A (p.Leu262Ile)
c.946-211454C>A (n.946-211454C>A)
6g.44230436C>GCA364306205POLR1C,SLC29A1c.544C>G (p.Leu182Val)
n.942C>G
c.487C>G (p.Leu163Val)
c.231C>G
n.733C>G
c.781C>G (p.Leu261Val)
c.670C>G (p.Leu224Val)
c.622C>G (p.Leu208Val)
c.619C>G (p.Leu207Val)
c.673C>G (p.Leu225Val)
c.784C>G (p.Leu262Val)
c.946-211454C>G (n.946-211454C>G)
6g.44230436C>TCA450308417POLR1C,SLC29A1c.544C>T (p.Leu182=)
n.942C>T
c.487C>T (p.Leu163=)
c.231C>T
n.733C>T
c.781C>T (p.Leu261=)
c.670C>T (p.Leu224=)
c.622C>T (p.Leu208=)
c.619C>T (p.Leu207=)
c.673C>T (p.Leu225=)
c.784C>T (p.Leu262=)
c.946-211454C>T (n.946-211454C>T)
6g.44230437T>ACA364306206POLR1C,SLC29A1c.545T>A (p.Leu182Gln)
n.943T>A
c.488T>A (p.Leu163Gln)
c.232T>A
n.734T>A
c.782T>A (p.Leu261Gln)
c.671T>A (p.Leu224Gln)
c.623T>A (p.Leu208Gln)
c.620T>A (p.Leu207Gln)
c.674T>A (p.Leu225Gln)
c.785T>A (p.Leu262Gln)
c.946-211453T>A (n.946-211453T>A)
6g.44230437T>CCA364306207POLR1C,SLC29A1c.545T>C (p.Leu182Pro)
n.943T>C
c.488T>C (p.Leu163Pro)
c.232T>C
n.734T>C
c.782T>C (p.Leu261Pro)
c.671T>C (p.Leu224Pro)
c.623T>C (p.Leu208Pro)
c.620T>C (p.Leu207Pro)
c.674T>C (p.Leu225Pro)
c.785T>C (p.Leu262Pro)
c.946-211453T>C (n.946-211453T>C)
 gnomAD v4
6g.44230437T>GCA364306208POLR1C,SLC29A1c.545T>G (p.Leu182Arg)
n.943T>G
c.488T>G (p.Leu163Arg)
c.232T>G
n.734T>G
c.782T>G (p.Leu261Arg)
c.671T>G (p.Leu224Arg)
c.623T>G (p.Leu208Arg)
c.620T>G (p.Leu207Arg)
c.674T>G (p.Leu225Arg)
c.785T>G (p.Leu262Arg)
c.946-211453T>G (n.946-211453T>G)
6g.44230438A>CCA450308418POLR1C,SLC29A1c.546A>C (p.Leu182=)
n.944A>C
c.489A>C (p.Leu163=)
c.233A>C
n.735A>C
c.783A>C (p.Leu261=)
c.672A>C (p.Leu224=)
c.624A>C (p.Leu208=)
c.621A>C (p.Leu207=)
c.675A>C (p.Leu225=)
c.786A>C (p.Leu262=)
c.946-211452A>C (n.946-211452A>C)
6g.44230438A>GCA450308420POLR1C,SLC29A1c.546A>G (p.Leu182=)
n.944A>G
c.489A>G (p.Leu163=)
c.233A>G
n.735A>G
c.783A>G (p.Leu261=)
c.672A>G (p.Leu224=)
c.624A>G (p.Leu208=)
c.621A>G (p.Leu207=)
c.675A>G (p.Leu225=)
c.786A>G (p.Leu262=)
c.946-211452A>G (n.946-211452A>G)
6g.44230438A>TCA450308419POLR1C,SLC29A1c.546A>T (p.Leu182=)
n.944A>T
c.489A>T (p.Leu163=)
c.233A>T
n.735A>T
c.783A>T (p.Leu261=)
c.672A>T (p.Leu224=)
c.624A>T (p.Leu208=)
c.621A>T (p.Leu207=)
c.675A>T (p.Leu225=)
c.786A>T (p.Leu262=)
c.946-211452A>T (n.946-211452A>T)
6g.44230439G>ACA364306209POLR1C,SLC29A1c.547G>A (p.Ala183Thr)
n.945G>A
c.490G>A (p.Ala164Thr)
c.234G>A
n.736G>A
c.784G>A (p.Ala262Thr)
c.673G>A (p.Ala225Thr)
c.625G>A (p.Ala209Thr)
c.622G>A (p.Ala208Thr)
c.676G>A (p.Ala226Thr)
c.787G>A (p.Ala263Thr)
c.946-211451G>A (n.946-211451G>A)
 gnomAD v4
6g.44230439G>CCA364306210POLR1C,SLC29A1c.547G>C (p.Ala183Pro)
n.945G>C
c.490G>C (p.Ala164Pro)
c.234G>C
n.736G>C
c.784G>C (p.Ala262Pro)
c.673G>C (p.Ala225Pro)
c.625G>C (p.Ala209Pro)
c.622G>C (p.Ala208Pro)
c.676G>C (p.Ala226Pro)
c.787G>C (p.Ala263Pro)
c.946-211451G>C (n.946-211451G>C)
6g.44230439G>TCA364306211POLR1C,SLC29A1c.547G>T (p.Ala183Ser)
n.945G>T
c.490G>T (p.Ala164Ser)
c.234G>T
n.736G>T
c.784G>T (p.Ala262Ser)
c.673G>T (p.Ala225Ser)
c.625G>T (p.Ala209Ser)
c.622G>T (p.Ala208Ser)
c.676G>T (p.Ala226Ser)
c.787G>T (p.Ala263Ser)
c.946-211451G>T (n.946-211451G>T)
6g.44230440C>ACA364306212POLR1C,SLC29A1c.548C>A (p.Ala183Glu)
n.946C>A
c.491C>A (p.Ala164Glu)
c.235C>A
n.737C>A
c.785C>A (p.Ala262Glu)
c.674C>A (p.Ala225Glu)
c.626C>A (p.Ala209Glu)
c.623C>A (p.Ala208Glu)
c.677C>A (p.Ala226Glu)
c.788C>A (p.Ala263Glu)
c.946-211450C>A (n.946-211450C>A)
6g.44230440C>GCA364306213POLR1C,SLC29A1c.548C>G (p.Ala183Gly)
n.946C>G
c.491C>G (p.Ala164Gly)
c.235C>G
n.737C>G
c.785C>G (p.Ala262Gly)
c.674C>G (p.Ala225Gly)
c.626C>G (p.Ala209Gly)
c.623C>G (p.Ala208Gly)
c.677C>G (p.Ala226Gly)
c.788C>G (p.Ala263Gly)
c.946-211450C>G (n.946-211450C>G)
6g.44230440C>TCA364306214POLR1C,SLC29A1c.548C>T (p.Ala183Val)
n.946C>T
c.491C>T (p.Ala164Val)
c.235C>T
n.737C>T
c.785C>T (p.Ala262Val)
c.674C>T (p.Ala225Val)
c.626C>T (p.Ala209Val)
c.623C>T (p.Ala208Val)
c.677C>T (p.Ala226Val)
c.788C>T (p.Ala263Val)
c.946-211450C>T (n.946-211450C>T)
6g.44230441A=CA1624908244POLR1C,SLC29A1c.549A= (p.Ala183=)
n.947A=
c.492A= (p.Ala164=)
c.236A=
n.738A=
c.786A= (p.Ala262=)
c.675A= (p.Ala225=)
c.627A= (p.Ala209=)
c.624A= (p.Ala208=)
c.678A= (p.Ala226=)
c.789A= (p.Ala263=)
c.946-211449A= (n.946-211449A=)
6g.44230441A>CCA450308421POLR1C,SLC29A1c.549A>C (p.Ala183=)
n.947A>C
c.492A>C (p.Ala164=)
c.236A>C
n.738A>C
c.786A>C (p.Ala262=)
c.675A>C (p.Ala225=)
c.627A>C (p.Ala209=)
c.624A>C (p.Ala208=)
c.678A>C (p.Ala226=)
c.789A>C (p.Ala263=)
c.946-211449A>C (n.946-211449A>C)
6g.44230441A>GCA450308422POLR1C,SLC29A1c.549A>G (p.Ala183=)
n.947A>G
c.492A>G (p.Ala164=)
c.236A>G
n.738A>G
c.786A>G (p.Ala262=)
c.675A>G (p.Ala225=)
c.627A>G (p.Ala209=)
c.624A>G (p.Ala208=)
c.678A>G (p.Ala226=)
c.789A>G (p.Ala263=)
c.946-211449A>G (n.946-211449A>G)
 dbSNP gnomAD v2 gnomAD v4
6g.44230441A>TCA450308423POLR1C,SLC29A1c.549A>T (p.Ala183=)
n.947A>T
c.492A>T (p.Ala164=)
c.236A>T
n.738A>T
c.786A>T (p.Ala262=)
c.675A>T (p.Ala225=)
c.627A>T (p.Ala209=)
c.624A>T (p.Ala208=)
c.678A>T (p.Ala226=)
c.789A>T (p.Ala263=)
c.946-211449A>T (n.946-211449A>T)
6g.44230442G>ACA364306217POLR1C,SLC29A1c.550G>A (p.Gly184Ser)
n.948G>A
c.493G>A (p.Gly165Ser)
c.237G>A
n.739G>A
c.787G>A (p.Gly263Ser)
c.676G>A (p.Gly226Ser)
c.628G>A (p.Gly210Ser)
c.625G>A (p.Gly209Ser)
c.679G>A (p.Gly227Ser)
c.790G>A (p.Gly264Ser)
c.946-211448G>A (n.946-211448G>A)
6g.44230442G>CCA364306215POLR1C,SLC29A1c.550G>C (p.Gly184Arg)
n.948G>C
c.493G>C (p.Gly165Arg)
c.237G>C
n.739G>C
c.787G>C (p.Gly263Arg)
c.676G>C (p.Gly226Arg)
c.628G>C (p.Gly210Arg)
c.625G>C (p.Gly209Arg)
c.679G>C (p.Gly227Arg)
c.790G>C (p.Gly264Arg)
c.946-211448G>C (n.946-211448G>C)
6g.44230442G>TCA364306216POLR1C,SLC29A1c.550G>T (p.Gly184Cys)
n.948G>T
c.493G>T (p.Gly165Cys)
c.237G>T
n.739G>T
c.787G>T (p.Gly263Cys)
c.676G>T (p.Gly226Cys)
c.628G>T (p.Gly210Cys)
c.625G>T (p.Gly209Cys)
c.679G>T (p.Gly227Cys)
c.790G>T (p.Gly264Cys)
c.946-211448G>T (n.946-211448G>T)
6g.44230443G>ACA364306218POLR1C,SLC29A1c.551G>A (p.Gly184Asp)
n.949G>A
c.494G>A (p.Gly165Asp)
c.238G>A
n.740G>A
c.788G>A (p.Gly263Asp)
c.677G>A (p.Gly226Asp)
c.629G>A (p.Gly210Asp)
c.626G>A (p.Gly209Asp)
c.680G>A (p.Gly227Asp)
c.791G>A (p.Gly264Asp)
c.946-211447G>A (n.946-211447G>A)
6g.44230443G>CCA364306219POLR1C,SLC29A1c.551G>C (p.Gly184Ala)
n.949G>C
c.494G>C (p.Gly165Ala)
c.238G>C
n.740G>C
c.788G>C (p.Gly263Ala)
c.677G>C (p.Gly226Ala)
c.629G>C (p.Gly210Ala)
c.626G>C (p.Gly209Ala)
c.680G>C (p.Gly227Ala)
c.791G>C (p.Gly264Ala)
c.946-211447G>C (n.946-211447G>C)
 gnomAD v4
6g.44230443G>TCA364306220POLR1C,SLC29A1c.551G>T (p.Gly184Val)
n.949G>T
c.494G>T (p.Gly165Val)
c.238G>T
n.740G>T
c.788G>T (p.Gly263Val)
c.677G>T (p.Gly226Val)
c.629G>T (p.Gly210Val)
c.626G>T (p.Gly209Val)
c.680G>T (p.Gly227Val)
c.791G>T (p.Gly264Val)
c.946-211447G>T (n.946-211447G>T)
 gnomAD v4
6g.44230443_44230444insAAACA2770867112POLR1C,SLC29A1c.551_552insAAA (p.Gly184_Phe185insAsn)
n.949_950insAAA
c.494_495insAAA (p.Gly165_Phe166insAsn)
c.238_239insAAA
n.740_741insAAA
c.788_789insAAA (p.Gly263_Phe264insAsn)
c.677_678insAAA (p.Gly226_Phe227insAsn)
c.629_630insAAA (p.Gly210_Phe211insAsn)
c.626_627insAAA (p.Gly209_Phe210insAsn)
c.680_681insAAA (p.Gly227_Phe228insAsn)
c.791_792insAAA (p.Gly264_Phe265insAsn)
c.946-211447_946-211446insAAA (n.946-211447_946-211446insAAA)
6g.44230444C>ACA450308424POLR1C,SLC29A1c.552C>A (p.Gly184=)
n.950C>A
c.495C>A (p.Gly165=)
c.239C>A
n.741C>A
c.789C>A (p.Gly263=)
c.678C>A (p.Gly226=)
c.630C>A (p.Gly210=)
c.627C>A (p.Gly209=)
c.681C>A (p.Gly227=)
c.792C>A (p.Gly264=)
c.946-211446C>A (n.946-211446C>A)
6g.44230444C>GCA450308425POLR1C,SLC29A1c.552C>G (p.Gly184=)
n.950C>G
c.495C>G (p.Gly165=)
c.239C>G
n.741C>G
c.789C>G (p.Gly263=)
c.678C>G (p.Gly226=)
c.630C>G (p.Gly210=)
c.627C>G (p.Gly209=)
c.681C>G (p.Gly227=)
c.792C>G (p.Gly264=)
c.946-211446C>G (n.946-211446C>G)
6g.44230444C>TCA450308426POLR1C,SLC29A1c.552C>T (p.Gly184=)
n.950C>T
c.495C>T (p.Gly165=)
c.239C>T
n.741C>T
c.789C>T (p.Gly263=)
c.678C>T (p.Gly226=)
c.630C>T (p.Gly210=)
c.627C>T (p.Gly209=)
c.681C>T (p.Gly227=)
c.792C>T (p.Gly264=)
c.946-211446C>T (n.946-211446C>T)
6g.44230445T>ACA364306221POLR1C,SLC29A1c.553T>A (p.Phe185Ile)
n.951T>A
c.496T>A (p.Phe166Ile)
c.240T>A
n.742T>A
c.790T>A (p.Phe264Ile)
c.679T>A (p.Phe227Ile)
c.631T>A (p.Phe211Ile)
c.628T>A (p.Phe210Ile)
c.682T>A (p.Phe228Ile)
c.793T>A (p.Phe265Ile)
c.946-211445T>A (n.946-211445T>A)
6g.44230445T>CCA364306222POLR1C,SLC29A1c.553T>C (p.Phe185Leu)
n.951T>C
c.496T>C (p.Phe166Leu)
c.240T>C
n.742T>C
c.790T>C (p.Phe264Leu)
c.679T>C (p.Phe227Leu)
c.631T>C (p.Phe211Leu)
c.628T>C (p.Phe210Leu)
c.682T>C (p.Phe228Leu)
c.793T>C (p.Phe265Leu)
c.946-211445T>C (n.946-211445T>C)
 gnomAD v4
6g.44230445T>GCA364306223POLR1C,SLC29A1c.553T>G (p.Phe185Val)
n.951T>G
c.496T>G (p.Phe166Val)
c.240T>G
n.742T>G
c.790T>G (p.Phe264Val)
c.679T>G (p.Phe227Val)
c.631T>G (p.Phe211Val)
c.628T>G (p.Phe210Val)
c.682T>G (p.Phe228Val)
c.793T>G (p.Phe265Val)
c.946-211445T>G (n.946-211445T>G)
6g.44230446T>ACA364306224POLR1C,SLC29A1c.554T>A (p.Phe185Tyr)
n.952T>A
c.497T>A (p.Phe166Tyr)
c.241T>A
n.743T>A
c.791T>A (p.Phe264Tyr)
c.680T>A (p.Phe227Tyr)
c.632T>A (p.Phe211Tyr)
c.629T>A (p.Phe210Tyr)
c.683T>A (p.Phe228Tyr)
c.794T>A (p.Phe265Tyr)
c.946-211444T>A (n.946-211444T>A)
6g.44230446T>CCA364306225POLR1C,SLC29A1c.554T>C (p.Phe185Ser)
n.952T>C
c.497T>C (p.Phe166Ser)
c.241T>C
n.743T>C
c.791T>C (p.Phe264Ser)
c.680T>C (p.Phe227Ser)
c.632T>C (p.Phe211Ser)
c.629T>C (p.Phe210Ser)
c.683T>C (p.Phe228Ser)
c.794T>C (p.Phe265Ser)
c.946-211444T>C (n.946-211444T>C)
6g.44230446T>GCA364306226POLR1C,SLC29A1c.554T>G (p.Phe185Cys)
n.952T>G
c.497T>G (p.Phe166Cys)
c.241T>G
n.743T>G
c.791T>G (p.Phe264Cys)
c.680T>G (p.Phe227Cys)
c.632T>G (p.Phe211Cys)
c.629T>G (p.Phe210Cys)
c.683T>G (p.Phe228Cys)
c.794T>G (p.Phe265Cys)
c.946-211444T>G (n.946-211444T>G)
 dbSNP gnomAD v3 gnomAD v4
6g.44230446T=CA1624908245POLR1C,SLC29A1c.554T= (p.Phe185=)
n.952T=
c.497T= (p.Phe166=)
c.241T=
n.743T=
c.791T= (p.Phe264=)
c.680T= (p.Phe227=)
c.632T= (p.Phe211=)
c.629T= (p.Phe210=)
c.683T= (p.Phe228=)
c.794T= (p.Phe265=)
c.946-211444T= (n.946-211444T=)
6g.44230447C>ACA364306227POLR1C,SLC29A1c.555C>A (p.Phe185Leu)
n.953C>A
c.498C>A (p.Phe166Leu)
c.242C>A
n.744C>A
c.792C>A (p.Phe264Leu)
c.681C>A (p.Phe227Leu)
c.633C>A (p.Phe211Leu)
c.630C>A (p.Phe210Leu)
c.684C>A (p.Phe228Leu)
c.795C>A (p.Phe265Leu)
c.946-211443C>A (n.946-211443C>A)
6g.44230447C>GCA364306228POLR1C,SLC29A1c.555C>G (p.Phe185Leu)
n.953C>G
c.498C>G (p.Phe166Leu)
c.242C>G
n.744C>G
c.792C>G (p.Phe264Leu)
c.681C>G (p.Phe227Leu)
c.633C>G (p.Phe211Leu)
c.630C>G (p.Phe210Leu)
c.684C>G (p.Phe228Leu)
c.795C>G (p.Phe265Leu)
c.946-211443C>G (n.946-211443C>G)
6g.44230447C>TCA450308427POLR1C,SLC29A1c.555C>T (p.Phe185=)
n.953C>T
c.498C>T (p.Phe166=)
c.242C>T
n.744C>T
c.792C>T (p.Phe264=)
c.681C>T (p.Phe227=)
c.633C>T (p.Phe211=)
c.630C>T (p.Phe210=)
c.684C>T (p.Phe228=)
c.795C>T (p.Phe265=)
c.946-211443C>T (n.946-211443C>T)
6g.44230448T>ACA364306231POLR1C,SLC29A1c.556T>A (p.Phe186Ile)
n.954T>A
c.499T>A (p.Phe167Ile)
c.243T>A
n.745T>A
c.793T>A (p.Phe265Ile)
c.682T>A (p.Phe228Ile)
c.634T>A (p.Phe212Ile)
c.631T>A (p.Phe211Ile)
c.685T>A (p.Phe229Ile)
c.796T>A (p.Phe266Ile)
c.946-211442T>A (n.946-211442T>A)
6g.44230448T>CCA364306230POLR1C,SLC29A1c.556T>C (p.Phe186Leu)
n.954T>C
c.499T>C (p.Phe167Leu)
c.243T>C
n.745T>C
c.793T>C (p.Phe265Leu)
c.682T>C (p.Phe228Leu)
c.634T>C (p.Phe212Leu)
c.631T>C (p.Phe211Leu)
c.685T>C (p.Phe229Leu)
c.796T>C (p.Phe266Leu)
c.946-211442T>C (n.946-211442T>C)
6g.44230448T>GCA364306229POLR1C,SLC29A1c.556T>G (p.Phe186Val)
n.954T>G
c.499T>G (p.Phe167Val)
c.243T>G
n.745T>G
c.793T>G (p.Phe265Val)
c.682T>G (p.Phe228Val)
c.634T>G (p.Phe212Val)
c.631T>G (p.Phe211Val)
c.685T>G (p.Phe229Val)
c.796T>G (p.Phe266Val)
c.946-211442T>G (n.946-211442T>G)
6g.44230449T>ACA364306232POLR1C,SLC29A1c.557T>A (p.Phe186Tyr)
n.955T>A
c.500T>A (p.Phe167Tyr)
c.244T>A
n.746T>A
c.794T>A (p.Phe265Tyr)
c.683T>A (p.Phe228Tyr)
c.635T>A (p.Phe212Tyr)
c.632T>A (p.Phe211Tyr)
c.686T>A (p.Phe229Tyr)
c.797T>A (p.Phe266Tyr)
c.946-211441T>A (n.946-211441T>A)
6g.44230449T>CCA364306233POLR1C,SLC29A1c.557T>C (p.Phe186Ser)
n.955T>C
c.500T>C (p.Phe167Ser)
c.244T>C
n.746T>C
c.794T>C (p.Phe265Ser)
c.683T>C (p.Phe228Ser)
c.635T>C (p.Phe212Ser)
c.632T>C (p.Phe211Ser)
c.686T>C (p.Phe229Ser)
c.797T>C (p.Phe266Ser)
c.946-211441T>C (n.946-211441T>C)
6g.44230449T>GCA364306234POLR1C,SLC29A1c.557T>G (p.Phe186Cys)
n.955T>G
c.500T>G (p.Phe167Cys)
c.244T>G
n.746T>G
c.794T>G (p.Phe265Cys)
c.683T>G (p.Phe228Cys)
c.635T>G (p.Phe212Cys)
c.632T>G (p.Phe211Cys)
c.686T>G (p.Phe229Cys)
c.797T>G (p.Phe266Cys)
c.946-211441T>G (n.946-211441T>G)
6g.44230450T>ACA364306235POLR1C,SLC29A1c.558T>A (p.Phe186Leu)
n.956T>A
c.501T>A (p.Phe167Leu)
c.245T>A
n.747T>A
c.795T>A (p.Phe265Leu)
c.684T>A (p.Phe228Leu)
c.636T>A (p.Phe212Leu)
c.633T>A (p.Phe211Leu)
c.687T>A (p.Phe229Leu)
c.798T>A (p.Phe266Leu)
c.946-211440T>A (n.946-211440T>A)
6g.44230450T>CCA3831589POLR1C,SLC29A1c.558T>C (p.Phe186=)
n.956T>C
c.501T>C (p.Phe167=)
c.245T>C
n.747T>C
c.795T>C (p.Phe265=)
c.684T>C (p.Phe228=)
c.636T>C (p.Phe212=)
c.633T>C (p.Phe211=)
c.687T>C (p.Phe229=)
c.798T>C (p.Phe266=)
c.946-211440T>C (n.946-211440T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.44230450T>GCA364306236POLR1C,SLC29A1c.558T>G (p.Phe186Leu)
n.956T>G
c.501T>G (p.Phe167Leu)
c.245T>G
n.747T>G
c.795T>G (p.Phe265Leu)
c.684T>G (p.Phe228Leu)
c.636T>G (p.Phe212Leu)
c.633T>G (p.Phe211Leu)
c.687T>G (p.Phe229Leu)
c.798T>G (p.Phe266Leu)
c.946-211440T>G (n.946-211440T>G)
6g.44230450T=CA1624908247POLR1C,SLC29A1c.558T= (p.Phe186=)
n.956T=
c.501T= (p.Phe167=)
c.245T=
n.747T=
c.795T= (p.Phe265=)
c.684T= (p.Phe228=)
c.636T= (p.Phe212=)
c.633T= (p.Phe211=)
c.687T= (p.Phe229=)
c.798T= (p.Phe266=)
c.946-211440T= (n.946-211440T=)
6g.44230451G>ACA364306237POLR1C,SLC29A1c.559G>A (p.Ala187Thr)
n.957G>A
c.502G>A (p.Ala168Thr)
c.246G>A
n.748G>A
c.796G>A (p.Ala266Thr)
c.685G>A (p.Ala229Thr)
c.637G>A (p.Ala213Thr)
c.634G>A (p.Ala212Thr)
c.688G>A (p.Ala230Thr)
c.799G>A (p.Ala267Thr)
c.946-211439G>A (n.946-211439G>A)
6g.44230451G>CCA364306238POLR1C,SLC29A1c.559G>C (p.Ala187Pro)
n.957G>C
c.502G>C (p.Ala168Pro)
c.246G>C
n.748G>C
c.796G>C (p.Ala266Pro)
c.685G>C (p.Ala229Pro)
c.637G>C (p.Ala213Pro)
c.634G>C (p.Ala212Pro)
c.688G>C (p.Ala230Pro)
c.799G>C (p.Ala267Pro)
c.946-211439G>C (n.946-211439G>C)
6g.44230451G=CA1624908250POLR1C,SLC29A1c.559G= (p.Ala187=)
n.957G=
c.502G= (p.Ala168=)
c.246G=
n.748G=
c.796G= (p.Ala266=)
c.685G= (p.Ala229=)
c.637G= (p.Ala213=)
c.634G= (p.Ala212=)
c.688G= (p.Ala230=)
c.799G= (p.Ala267=)
c.946-211439G= (n.946-211439G=)
6g.44230451G>TCA3831590POLR1C,SLC29A1c.559G>T (p.Ala187Ser)
n.957G>T
c.502G>T (p.Ala168Ser)
c.246G>T
n.748G>T
c.796G>T (p.Ala266Ser)
c.685G>T (p.Ala229Ser)
c.637G>T (p.Ala213Ser)
c.634G>T (p.Ala212Ser)
c.688G>T (p.Ala230Ser)
c.799G>T (p.Ala267Ser)
c.946-211439G>T (n.946-211439G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44230452C>ACA364306239POLR1C,SLC29A1c.560C>A (p.Ala187Asp)
n.958C>A
c.503C>A (p.Ala168Asp)
c.247C>A
n.749C>A
c.797C>A (p.Ala266Asp)
c.686C>A (p.Ala229Asp)
c.638C>A (p.Ala213Asp)
c.635C>A (p.Ala212Asp)
c.689C>A (p.Ala230Asp)
c.800C>A (p.Ala267Asp)
c.946-211438C>A (n.946-211438C>A)
6g.44230452C>GCA364306240POLR1C,SLC29A1c.560C>G (p.Ala187Gly)
n.958C>G
c.503C>G (p.Ala168Gly)
c.247C>G
n.749C>G
c.797C>G (p.Ala266Gly)
c.686C>G (p.Ala229Gly)
c.638C>G (p.Ala213Gly)
c.635C>G (p.Ala212Gly)
c.689C>G (p.Ala230Gly)
c.800C>G (p.Ala267Gly)
c.946-211438C>G (n.946-211438C>G)
 gnomAD v4
6g.44230452C>TCA364306241POLR1C,SLC29A1c.560C>T (p.Ala187Val)
n.958C>T
c.503C>T (p.Ala168Val)
c.247C>T
n.749C>T
c.797C>T (p.Ala266Val)
c.686C>T (p.Ala229Val)
c.638C>T (p.Ala213Val)
c.635C>T (p.Ala212Val)
c.689C>T (p.Ala230Val)
c.800C>T (p.Ala267Val)
c.946-211438C>T (n.946-211438C>T)
6g.44230453C>ACA450308428POLR1C,SLC29A1c.561C>A (p.Ala187=)
n.959C>A
c.504C>A (p.Ala168=)
c.248C>A
n.750C>A
c.798C>A (p.Ala266=)
c.687C>A (p.Ala229=)
c.639C>A (p.Ala213=)
c.636C>A (p.Ala212=)
c.690C>A (p.Ala230=)
c.801C>A (p.Ala267=)
c.946-211437C>A (n.946-211437C>A)
6g.44230453C=CA1624908253POLR1C,SLC29A1c.561C= (p.Ala187=)
n.959C=
c.504C= (p.Ala168=)
c.248C=
n.750C=
c.798C= (p.Ala266=)
c.687C= (p.Ala229=)
c.639C= (p.Ala213=)
c.636C= (p.Ala212=)
c.690C= (p.Ala230=)
c.801C= (p.Ala267=)
c.946-211437C= (n.946-211437C=)
6g.44230453C>GCA450308429POLR1C,SLC29A1c.561C>G (p.Ala187=)
n.959C>G
c.504C>G (p.Ala168=)
c.248C>G
n.750C>G
c.798C>G (p.Ala266=)
c.687C>G (p.Ala229=)
c.639C>G (p.Ala213=)
c.636C>G (p.Ala212=)
c.690C>G (p.Ala230=)
c.801C>G (p.Ala267=)
c.946-211437C>G (n.946-211437C>G)
6g.44230453C>TCA450308430POLR1C,SLC29A1c.561C>T (p.Ala187=)
n.959C>T
c.504C>T (p.Ala168=)
c.248C>T
n.750C>T
c.798C>T (p.Ala266=)
c.687C>T (p.Ala229=)
c.639C>T (p.Ala213=)
c.636C>T (p.Ala212=)
c.690C>T (p.Ala230=)
c.801C>T (p.Ala267=)
c.946-211437C>T (n.946-211437C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.44230454T>ACA364306244POLR1C,SLC29A1c.562T>A (p.Ser188Thr)
n.960T>A
c.505T>A (p.Ser169Thr)
c.249T>A
n.751T>A
c.799T>A (p.Ser267Thr)
c.688T>A (p.Ser230Thr)
c.640T>A (p.Ser214Thr)
c.637T>A (p.Ser213Thr)
c.691T>A (p.Ser231Thr)
c.802T>A (p.Ser268Thr)
c.946-211436T>A (n.946-211436T>A)
6g.44230454T>CCA364306243POLR1C,SLC29A1c.562T>C (p.Ser188Pro)
n.960T>C
c.505T>C (p.Ser169Pro)
c.249T>C
n.751T>C
c.799T>C (p.Ser267Pro)
c.688T>C (p.Ser230Pro)
c.640T>C (p.Ser214Pro)
c.637T>C (p.Ser213Pro)
c.691T>C (p.Ser231Pro)
c.802T>C (p.Ser268Pro)
c.946-211436T>C (n.946-211436T>C)
6g.44230454T>GCA364306242POLR1C,SLC29A1c.562T>G (p.Ser188Ala)
n.960T>G
c.505T>G (p.Ser169Ala)
c.249T>G
n.751T>G
c.799T>G (p.Ser267Ala)
c.688T>G (p.Ser230Ala)
c.640T>G (p.Ser214Ala)
c.637T>G (p.Ser213Ala)
c.691T>G (p.Ser231Ala)
c.802T>G (p.Ser268Ala)
c.946-211436T>G (n.946-211436T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.44230454T=CA1624908256POLR1C,SLC29A1c.562T= (p.Ser188=)
n.960T=
c.505T= (p.Ser169=)
c.249T=
n.751T=
c.799T= (p.Ser267=)
c.688T= (p.Ser230=)
c.640T= (p.Ser214=)
c.637T= (p.Ser213=)
c.691T= (p.Ser231=)
c.802T= (p.Ser268=)
c.946-211436T= (n.946-211436T=)
6g.44230455C>ACA364306245POLR1C,SLC29A1c.563C>A (p.Ser188Tyr)
n.961C>A
c.506C>A (p.Ser169Tyr)
c.250C>A
n.752C>A
c.800C>A (p.Ser267Tyr)
c.689C>A (p.Ser230Tyr)
c.641C>A (p.Ser214Tyr)
c.638C>A (p.Ser213Tyr)
c.692C>A (p.Ser231Tyr)
c.803C>A (p.Ser268Tyr)
c.946-211435C>A (n.946-211435C>A)
6g.44230455C>GCA364306246POLR1C,SLC29A1c.563C>G (p.Ser188Cys)
n.961C>G
c.506C>G (p.Ser169Cys)
c.250C>G
n.752C>G
c.800C>G (p.Ser267Cys)
c.689C>G (p.Ser230Cys)
c.641C>G (p.Ser214Cys)
c.638C>G (p.Ser213Cys)
c.692C>G (p.Ser231Cys)
c.803C>G (p.Ser268Cys)
c.946-211435C>G (n.946-211435C>G)
 gnomAD v4
6g.44230455C>TCA364306247POLR1C,SLC29A1c.563C>T (p.Ser188Phe)
n.961C>T
c.506C>T (p.Ser169Phe)
c.250C>T
n.752C>T
c.800C>T (p.Ser267Phe)
c.689C>T (p.Ser230Phe)
c.641C>T (p.Ser214Phe)
c.638C>T (p.Ser213Phe)
c.692C>T (p.Ser231Phe)
c.803C>T (p.Ser268Phe)
c.946-211435C>T (n.946-211435C>T)
6g.44230456delCA2678935188POLR1C,SLC29A1c.564del (p.Val189TrpfsTer3)
n.962del
c.507del (p.Val170TrpfsTer3)
c.251del
n.753del
c.801del (p.Val268TrpfsTer3)
c.690del (p.Val231TrpfsTer3)
c.642del (p.Val215TrpfsTer3)
c.639del (p.Val214TrpfsTer3)
c.693del (p.Val232TrpfsTer3)
c.804del (p.Val269TrpfsTer3)
c.946-211434del (n.946-211434del)
 gnomAD v4
6g.44230456C>ACA450308431POLR1C,SLC29A1c.564C>A (p.Ser188=)
n.962C>A
c.507C>A (p.Ser169=)
c.251C>A
n.753C>A
c.801C>A (p.Ser267=)
c.690C>A (p.Ser230=)
c.642C>A (p.Ser214=)
c.639C>A (p.Ser213=)
c.693C>A (p.Ser231=)
c.804C>A (p.Ser268=)
c.946-211434C>A (n.946-211434C>A)
6g.44230456C=CA1624908259POLR1C,SLC29A1c.564C= (p.Ser188=)
n.962C=
c.507C= (p.Ser169=)
c.251C=
n.753C=
c.801C= (p.Ser267=)
c.690C= (p.Ser230=)
c.642C= (p.Ser214=)
c.639C= (p.Ser213=)
c.693C= (p.Ser231=)
c.804C= (p.Ser268=)
c.946-211434C= (n.946-211434C=)
6g.44230456C>GCA450308432POLR1C,SLC29A1c.564C>G (p.Ser188=)
n.962C>G
c.507C>G (p.Ser169=)
c.251C>G
n.753C>G
c.801C>G (p.Ser267=)
c.690C>G (p.Ser230=)
c.642C>G (p.Ser214=)
c.639C>G (p.Ser213=)
c.693C>G (p.Ser231=)
c.804C>G (p.Ser268=)
c.946-211434C>G (n.946-211434C>G)
6g.44230456C>TCA3831591POLR1C,SLC29A1c.564C>T (p.Ser188=)
n.962C>T
c.507C>T (p.Ser169=)
c.251C>T
n.753C>T
c.801C>T (p.Ser267=)
c.690C>T (p.Ser230=)
c.642C>T (p.Ser214=)
c.639C>T (p.Ser213=)
c.693C>T (p.Ser231=)
c.804C>T (p.Ser268=)
c.946-211434C>T (n.946-211434C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.44230457G>ACA3831592POLR1C,SLC29A1c.565G>A (p.Val189Met)
n.963G>A
c.508G>A (p.Val170Met)
c.252G>A
n.754G>A
c.802G>A (p.Val268Met)
c.691G>A (p.Val231Met)
c.643G>A (p.Val215Met)
c.640G>A (p.Val214Met)
c.694G>A (p.Val232Met)
c.805G>A (p.Val269Met)
c.946-211433G>A (n.946-211433G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44230457G>CCA364306248POLR1C,SLC29A1c.565G>C (p.Val189Leu)
n.963G>C
c.508G>C (p.Val170Leu)
c.252G>C
n.754G>C
c.802G>C (p.Val268Leu)
c.691G>C (p.Val231Leu)
c.643G>C (p.Val215Leu)
c.640G>C (p.Val214Leu)
c.694G>C (p.Val232Leu)
c.805G>C (p.Val269Leu)
c.946-211433G>C (n.946-211433G>C)
6g.44230457G=CA1624908261POLR1C,SLC29A1c.565G= (p.Val189=)
n.963G=
c.508G= (p.Val170=)
c.252G=
n.754G=
c.802G= (p.Val268=)
c.691G= (p.Val231=)
c.643G= (p.Val215=)
c.640G= (p.Val214=)
c.694G= (p.Val232=)
c.805G= (p.Val269=)
c.946-211433G= (n.946-211433G=)
6g.44230457G>TCA364306249POLR1C,SLC29A1c.565G>T (p.Val189Leu)
n.963G>T
c.508G>T (p.Val170Leu)
c.252G>T
n.754G>T
c.802G>T (p.Val268Leu)
c.691G>T (p.Val231Leu)
c.643G>T (p.Val215Leu)
c.640G>T (p.Val214Leu)
c.694G>T (p.Val232Leu)
c.805G>T (p.Val269Leu)
c.946-211433G>T (n.946-211433G>T)
6g.44230458T>ACA364306250POLR1C,SLC29A1c.566T>A (p.Val189Glu)
n.964T>A
c.509T>A (p.Val170Glu)
c.253T>A
n.755T>A
c.803T>A (p.Val268Glu)
c.692T>A (p.Val231Glu)
c.644T>A (p.Val215Glu)
c.641T>A (p.Val214Glu)
c.695T>A (p.Val232Glu)
c.806T>A (p.Val269Glu)
c.946-211432T>A (n.946-211432T>A)
6g.44230458T>CCA364306251POLR1C,SLC29A1c.566T>C (p.Val189Ala)
n.964T>C
c.509T>C (p.Val170Ala)
c.253T>C
n.755T>C
c.803T>C (p.Val268Ala)
c.692T>C (p.Val231Ala)
c.644T>C (p.Val215Ala)
c.641T>C (p.Val214Ala)
c.695T>C (p.Val232Ala)
c.806T>C (p.Val269Ala)
c.946-211432T>C (n.946-211432T>C)
 dbSNP
6g.44230458T>GCA364306252POLR1C,SLC29A1c.566T>G (p.Val189Gly)
n.964T>G
c.509T>G (p.Val170Gly)
c.253T>G
n.755T>G
c.803T>G (p.Val268Gly)
c.692T>G (p.Val231Gly)
c.644T>G (p.Val215Gly)
c.641T>G (p.Val214Gly)
c.695T>G (p.Val232Gly)
c.806T>G (p.Val269Gly)
c.946-211432T>G (n.946-211432T>G)
6g.44230458T=CA1624908263POLR1C,SLC29A1c.566T= (p.Val189=)
n.964T=
c.509T= (p.Val170=)
c.253T=
n.755T=
c.803T= (p.Val268=)
c.692T= (p.Val231=)
c.644T= (p.Val215=)
c.641T= (p.Val214=)
c.695T= (p.Val232=)
c.806T= (p.Val269=)
c.946-211432T= (n.946-211432T=)
6g.44230459G>ACA450308433POLR1C,SLC29A1c.567G>A (p.Val189=)
n.965G>A
c.510G>A (p.Val170=)
c.254G>A
n.756G>A
c.804G>A (p.Val268=)
c.693G>A (p.Val231=)
c.645G>A (p.Val215=)
c.642G>A (p.Val214=)
c.696G>A (p.Val232=)
c.807G>A (p.Val269=)
c.946-211431G>A (n.946-211431G>A)
6g.44230459G>CCA450308434POLR1C,SLC29A1c.567G>C (p.Val189=)
n.965G>C
c.510G>C (p.Val170=)
c.254G>C
n.756G>C
c.804G>C (p.Val268=)
c.693G>C (p.Val231=)
c.645G>C (p.Val215=)
c.642G>C (p.Val214=)
c.696G>C (p.Val232=)
c.807G>C (p.Val269=)
c.946-211431G>C (n.946-211431G>C)
6g.44230459G>TCA450308435POLR1C,SLC29A1c.567G>T (p.Val189=)
n.965G>T
c.510G>T (p.Val170=)
c.254G>T
n.756G>T
c.804G>T (p.Val268=)
c.693G>T (p.Val231=)
c.645G>T (p.Val215=)
c.642G>T (p.Val214=)
c.696G>T (p.Val232=)
c.807G>T (p.Val269=)
c.946-211431G>T (n.946-211431G>T)
6g.44230460G>ACA364306253POLR1C,SLC29A1c.568G>A (p.Ala190Thr)
n.966G>A
c.511G>A (p.Ala171Thr)
c.255G>A
n.757G>A
c.805G>A (p.Ala269Thr)
c.694G>A (p.Ala232Thr)
c.646G>A (p.Ala216Thr)
c.643G>A (p.Ala215Thr)
c.697G>A (p.Ala233Thr)
c.808G>A (p.Ala270Thr)
c.946-211430G>A (n.946-211430G>A)
6g.44230460G>CCA364306254POLR1C,SLC29A1c.568G>C (p.Ala190Pro)
n.966G>C
c.511G>C (p.Ala171Pro)
c.255G>C
n.757G>C
c.805G>C (p.Ala269Pro)
c.694G>C (p.Ala232Pro)
c.646G>C (p.Ala216Pro)
c.643G>C (p.Ala215Pro)
c.697G>C (p.Ala233Pro)
c.808G>C (p.Ala270Pro)
c.946-211430G>C (n.946-211430G>C)
6g.44230460G>TCA364306255POLR1C,SLC29A1c.568G>T (p.Ala190Ser)
n.966G>T
c.511G>T (p.Ala171Ser)
c.255G>T
n.757G>T
c.805G>T (p.Ala269Ser)
c.694G>T (p.Ala232Ser)
c.646G>T (p.Ala216Ser)
c.643G>T (p.Ala215Ser)
c.697G>T (p.Ala233Ser)
c.808G>T (p.Ala270Ser)
c.946-211430G>T (n.946-211430G>T)
6g.44230461C>ACA364306257POLR1C,SLC29A1c.569C>A (p.Ala190Asp)
n.967C>A
c.512C>A (p.Ala171Asp)
c.256C>A
n.758C>A
c.806C>A (p.Ala269Asp)
c.695C>A (p.Ala232Asp)
c.647C>A (p.Ala216Asp)
c.644C>A (p.Ala215Asp)
c.698C>A (p.Ala233Asp)
c.809C>A (p.Ala270Asp)
c.946-211429C>A (n.946-211429C>A)
6g.44230461C>GCA364306258POLR1C,SLC29A1c.569C>G (p.Ala190Gly)
n.967C>G
c.512C>G (p.Ala171Gly)
c.256C>G
n.758C>G
c.806C>G (p.Ala269Gly)
c.695C>G (p.Ala232Gly)
c.647C>G (p.Ala216Gly)
c.644C>G (p.Ala215Gly)
c.698C>G (p.Ala233Gly)
c.809C>G (p.Ala270Gly)
c.946-211429C>G (n.946-211429C>G)
6g.44230461C>TCA364306256POLR1C,SLC29A1c.569C>T (p.Ala190Val)
n.967C>T
c.512C>T (p.Ala171Val)
c.256C>T
n.758C>T
c.806C>T (p.Ala269Val)
c.695C>T (p.Ala232Val)
c.647C>T (p.Ala216Val)
c.644C>T (p.Ala215Val)
c.698C>T (p.Ala233Val)
c.809C>T (p.Ala270Val)
c.946-211429C>T (n.946-211429C>T)
6g.44230462C>ACA450308436POLR1C,SLC29A1c.570C>A (p.Ala190=)
n.968C>A
c.513C>A (p.Ala171=)
c.257C>A
n.759C>A
c.807C>A (p.Ala269=)
c.696C>A (p.Ala232=)
c.648C>A (p.Ala216=)
c.645C>A (p.Ala215=)
c.699C>A (p.Ala233=)
c.810C>A (p.Ala270=)
c.946-211428C>A (n.946-211428C>A)
6g.44230462C=CA1624908265POLR1C,SLC29A1c.570C= (p.Ala190=)
n.968C=
c.513C= (p.Ala171=)
c.257C=
n.759C=
c.807C= (p.Ala269=)
c.696C= (p.Ala232=)
c.648C= (p.Ala216=)
c.645C= (p.Ala215=)
c.699C= (p.Ala233=)
c.810C= (p.Ala270=)
c.946-211428C= (n.946-211428C=)
6g.44230462C>GCA450308437POLR1C,SLC29A1c.570C>G (p.Ala190=)
n.968C>G
c.513C>G (p.Ala171=)
c.257C>G
n.759C>G
c.807C>G (p.Ala269=)
c.696C>G (p.Ala232=)
c.648C>G (p.Ala216=)
c.645C>G (p.Ala215=)
c.699C>G (p.Ala233=)
c.810C>G (p.Ala270=)
c.946-211428C>G (n.946-211428C>G)
6g.44230462C>TCA450308438POLR1C,SLC29A1c.570C>T (p.Ala190=)
n.968C>T
c.513C>T (p.Ala171=)
c.257C>T
n.759C>T
c.807C>T (p.Ala269=)
c.696C>T (p.Ala232=)
c.648C>T (p.Ala216=)
c.645C>T (p.Ala215=)
c.699C>T (p.Ala233=)
c.810C>T (p.Ala270=)
c.946-211428C>T (n.946-211428C>T)
 dbSNP gnomAD v3 gnomAD v4
6g.44230463A=CA1624908267POLR1C,SLC29A1c.571A= (p.Met191=)
n.969A=
c.514A= (p.Met172=)
c.258A=
n.760A=
c.808A= (p.Met270=)
c.697A= (p.Met233=)
c.649A= (p.Met217=)
c.646A= (p.Met216=)
c.700A= (p.Met234=)
c.811A= (p.Met271=)
c.946-211427A= (n.946-211427A=)
6g.44230463A>CCA364306259POLR1C,SLC29A1c.571A>C (p.Met191Leu)
n.969A>C
c.514A>C (p.Met172Leu)
c.258A>C
n.760A>C
c.808A>C (p.Met270Leu)
c.697A>C (p.Met233Leu)
c.649A>C (p.Met217Leu)
c.646A>C (p.Met216Leu)
c.700A>C (p.Met234Leu)
c.811A>C (p.Met271Leu)
c.946-211427A>C (n.946-211427A>C)
6g.44230463A>GCA364306260POLR1C,SLC29A1c.571A>G (p.Met191Val)
n.969A>G
c.514A>G (p.Met172Val)
c.258A>G
n.760A>G
c.808A>G (p.Met270Val)
c.697A>G (p.Met233Val)
c.649A>G (p.Met217Val)
c.646A>G (p.Met216Val)
c.700A>G (p.Met234Val)
c.811A>G (p.Met271Val)
c.946-211427A>G (n.946-211427A>G)
 dbSNP gnomAD v3 gnomAD v4
6g.44230463A>TCA364306261POLR1C,SLC29A1c.571A>T (p.Met191Leu)
n.969A>T
c.514A>T (p.Met172Leu)
c.258A>T
n.760A>T
c.808A>T (p.Met270Leu)
c.697A>T (p.Met233Leu)
c.649A>T (p.Met217Leu)
c.646A>T (p.Met216Leu)
c.700A>T (p.Met234Leu)
c.811A>T (p.Met271Leu)
c.946-211427A>T (n.946-211427A>T)
6g.44230464T>ACA364306262POLR1C,SLC29A1c.572T>A (p.Met191Lys)
n.970T>A
c.515T>A (p.Met172Lys)
c.259T>A
n.761T>A
c.809T>A (p.Met270Lys)
c.698T>A (p.Met233Lys)
c.650T>A (p.Met217Lys)
c.647T>A (p.Met216Lys)
c.701T>A (p.Met234Lys)
c.812T>A (p.Met271Lys)
c.946-211426T>A (n.946-211426T>A)
6g.44230464T>CCA364306263POLR1C,SLC29A1c.572T>C (p.Met191Thr)
n.970T>C
c.515T>C (p.Met172Thr)
c.259T>C
n.761T>C
c.809T>C (p.Met270Thr)
c.698T>C (p.Met233Thr)
c.650T>C (p.Met217Thr)
c.647T>C (p.Met216Thr)
c.701T>C (p.Met234Thr)
c.812T>C (p.Met271Thr)
c.946-211426T>C (n.946-211426T>C)
6g.44230464T>GCA364306264POLR1C,SLC29A1c.572T>G (p.Met191Arg)
n.970T>G
c.515T>G (p.Met172Arg)
c.259T>G
n.761T>G
c.809T>G (p.Met270Arg)
c.698T>G (p.Met233Arg)
c.650T>G (p.Met217Arg)
c.647T>G (p.Met216Arg)
c.701T>G (p.Met234Arg)
c.812T>G (p.Met271Arg)
c.946-211426T>G (n.946-211426T>G)
6g.44230465G>ACA364306265POLR1C,SLC29A1c.573G>A (p.Met191Ile)
n.971G>A
c.516G>A (p.Met172Ile)
c.260G>A
n.762G>A
c.810G>A (p.Met270Ile)
c.699G>A (p.Met233Ile)
c.651G>A (p.Met217Ile)
c.648G>A (p.Met216Ile)
c.702G>A (p.Met234Ile)
c.813G>A (p.Met271Ile)
c.946-211425G>A (n.946-211425G>A)
6g.44230465G>CCA364306266POLR1C,SLC29A1c.573G>C (p.Met191Ile)
n.971G>C
c.516G>C (p.Met172Ile)
c.260G>C
n.762G>C
c.810G>C (p.Met270Ile)
c.699G>C (p.Met233Ile)
c.651G>C (p.Met217Ile)
c.648G>C (p.Met216Ile)
c.702G>C (p.Met234Ile)
c.813G>C (p.Met271Ile)
c.946-211425G>C (n.946-211425G>C)
6g.44230465G>TCA364306267POLR1C,SLC29A1c.573G>T (p.Met191Ile)
n.971G>T
c.516G>T (p.Met172Ile)
c.260G>T
n.762G>T
c.810G>T (p.Met270Ile)
c.699G>T (p.Met233Ile)
c.651G>T (p.Met217Ile)
c.648G>T (p.Met216Ile)
c.702G>T (p.Met234Ile)
c.813G>T (p.Met271Ile)
c.946-211425G>T (n.946-211425G>T)
 COSMIC
6g.44230466A>CCA364306268POLR1C,SLC29A1c.574A>C (p.Ile192Leu)
n.972A>C
c.517A>C (p.Ile173Leu)
c.261A>C
n.763A>C
c.811A>C (p.Ile271Leu)
c.700A>C (p.Ile234Leu)
c.652A>C (p.Ile218Leu)
c.649A>C (p.Ile217Leu)
c.703A>C (p.Ile235Leu)
c.814A>C (p.Ile272Leu)
c.946-211424A>C (n.946-211424A>C)
6g.44230466A>GCA364306269POLR1C,SLC29A1c.574A>G (p.Ile192Val)
n.972A>G
c.517A>G (p.Ile173Val)
c.261A>G
n.763A>G
c.811A>G (p.Ile271Val)
c.700A>G (p.Ile234Val)
c.652A>G (p.Ile218Val)
c.649A>G (p.Ile217Val)
c.703A>G (p.Ile235Val)
c.814A>G (p.Ile272Val)
c.946-211424A>G (n.946-211424A>G)
6g.44230466A>TCA364306270POLR1C,SLC29A1c.574A>T (p.Ile192Phe)
n.972A>T
c.517A>T (p.Ile173Phe)
c.261A>T
n.763A>T
c.811A>T (p.Ile271Phe)
c.700A>T (p.Ile234Phe)
c.652A>T (p.Ile218Phe)
c.649A>T (p.Ile217Phe)
c.703A>T (p.Ile235Phe)
c.814A>T (p.Ile272Phe)
c.946-211424A>T (n.946-211424A>T)
6g.44230467T>ACA364306271POLR1C,SLC29A1c.575T>A (p.Ile192Asn)
n.973T>A
c.518T>A (p.Ile173Asn)
c.262T>A
n.764T>A
c.812T>A (p.Ile271Asn)
c.701T>A (p.Ile234Asn)
c.653T>A (p.Ile218Asn)
c.650T>A (p.Ile217Asn)
c.704T>A (p.Ile235Asn)
c.815T>A (p.Ile272Asn)
c.946-211423T>A (n.946-211423T>A)
6g.44230467T>CCA364306272POLR1C,SLC29A1c.575T>C (p.Ile192Thr)
n.973T>C
c.518T>C (p.Ile173Thr)
c.262T>C
n.764T>C
c.812T>C (p.Ile271Thr)
c.701T>C (p.Ile234Thr)
c.653T>C (p.Ile218Thr)
c.650T>C (p.Ile217Thr)
c.704T>C (p.Ile235Thr)
c.815T>C (p.Ile272Thr)
c.946-211423T>C (n.946-211423T>C)
6g.44230467T>GCA364306273POLR1C,SLC29A1c.575T>G (p.Ile192Ser)
n.973T>G
c.518T>G (p.Ile173Ser)
c.262T>G
n.764T>G
c.812T>G (p.Ile271Ser)
c.701T>G (p.Ile234Ser)
c.653T>G (p.Ile218Ser)
c.650T>G (p.Ile217Ser)
c.704T>G (p.Ile235Ser)
c.815T>G (p.Ile272Ser)
c.946-211423T>G (n.946-211423T>G)
6g.44230468C>ACA450308440POLR1C,SLC29A1c.576C>A (p.Ile192=)
n.974C>A
c.519C>A (p.Ile173=)
c.263C>A
n.765C>A
c.813C>A (p.Ile271=)
c.702C>A (p.Ile234=)
c.654C>A (p.Ile218=)
c.651C>A (p.Ile217=)
c.705C>A (p.Ile235=)
c.816C>A (p.Ile272=)
c.946-211422C>A (n.946-211422C>A)
6g.44230468C=CA1624908270POLR1C,SLC29A1c.576C= (p.Ile192=)
n.974C=
c.519C= (p.Ile173=)
c.263C=
n.765C=
c.813C= (p.Ile271=)
c.702C= (p.Ile234=)
c.654C= (p.Ile218=)
c.651C= (p.Ile217=)
c.705C= (p.Ile235=)
c.816C= (p.Ile272=)
c.946-211422C= (n.946-211422C=)
6g.44230468C>GCA364306274POLR1C,SLC29A1c.576C>G (p.Ile192Met)
n.974C>G
c.519C>G (p.Ile173Met)
c.263C>G
n.765C>G
c.813C>G (p.Ile271Met)
c.702C>G (p.Ile234Met)
c.654C>G (p.Ile218Met)
c.651C>G (p.Ile217Met)
c.705C>G (p.Ile235Met)
c.816C>G (p.Ile272Met)
c.946-211422C>G (n.946-211422C>G)
6g.44230468C>TCA450308441POLR1C,SLC29A1c.576C>T (p.Ile192=)
n.974C>T
c.519C>T (p.Ile173=)
c.263C>T
n.765C>T
c.813C>T (p.Ile271=)
c.702C>T (p.Ile234=)
c.654C>T (p.Ile218=)
c.651C>T (p.Ile217=)
c.705C>T (p.Ile235=)
c.816C>T (p.Ile272=)
c.946-211422C>T (n.946-211422C>T)
 dbSNP gnomAD v3 gnomAD v4
6g.44230469T>ACA364306277POLR1C,SLC29A1c.577T>A (p.Cys193Ser)
n.975T>A
c.520T>A (p.Cys174Ser)
c.264T>A
n.766T>A
c.814T>A (p.Cys272Ser)
c.703T>A (p.Cys235Ser)
c.655T>A (p.Cys219Ser)
c.652T>A (p.Cys218Ser)
c.706T>A (p.Cys236Ser)
c.817T>A (p.Cys273Ser)
c.946-211421T>A (n.946-211421T>A)
6g.44230469T>CCA364306275POLR1C,SLC29A1c.577T>C (p.Cys193Arg)
n.975T>C
c.520T>C (p.Cys174Arg)
c.264T>C
n.766T>C
c.814T>C (p.Cys272Arg)
c.703T>C (p.Cys235Arg)
c.655T>C (p.Cys219Arg)
c.652T>C (p.Cys218Arg)
c.706T>C (p.Cys236Arg)
c.817T>C (p.Cys273Arg)
c.946-211421T>C (n.946-211421T>C)
 dbSNP
6g.44230469T>GCA364306276POLR1C,SLC29A1c.577T>G (p.Cys193Gly)
n.975T>G
c.520T>G (p.Cys174Gly)
c.264T>G
n.766T>G
c.814T>G (p.Cys272Gly)
c.703T>G (p.Cys235Gly)
c.655T>G (p.Cys219Gly)
c.652T>G (p.Cys218Gly)
c.706T>G (p.Cys236Gly)
c.817T>G (p.Cys273Gly)
c.946-211421T>G (n.946-211421T>G)
6g.44230469T=CA1624908272POLR1C,SLC29A1c.577T= (p.Cys193=)
n.975T=
c.520T= (p.Cys174=)
c.264T=
n.766T=
c.814T= (p.Cys272=)
c.703T= (p.Cys235=)
c.655T= (p.Cys219=)
c.652T= (p.Cys218=)
c.706T= (p.Cys236=)
c.817T= (p.Cys273=)
c.946-211421T= (n.946-211421T=)
6g.44230470G>ACA364306278POLR1C,SLC29A1c.578G>A (p.Cys193Tyr)
n.976G>A
c.521G>A (p.Cys174Tyr)
c.265G>A
n.767G>A
c.815G>A (p.Cys272Tyr)
c.704G>A (p.Cys235Tyr)
c.656G>A (p.Cys219Tyr)
c.653G>A (p.Cys218Tyr)
c.707G>A (p.Cys236Tyr)
c.818G>A (p.Cys273Tyr)
c.946-211420G>A (n.946-211420G>A)
6g.44230470G>CCA364306279POLR1C,SLC29A1c.578G>C (p.Cys193Ser)
n.976G>C
c.521G>C (p.Cys174Ser)
c.265G>C
n.767G>C
c.815G>C (p.Cys272Ser)
c.704G>C (p.Cys235Ser)
c.656G>C (p.Cys219Ser)
c.653G>C (p.Cys218Ser)
c.707G>C (p.Cys236Ser)
c.818G>C (p.Cys273Ser)
c.946-211420G>C (n.946-211420G>C)
6g.44230470G>TCA364306280POLR1C,SLC29A1c.578G>T (p.Cys193Phe)
n.976G>T
c.521G>T (p.Cys174Phe)
c.265G>T
n.767G>T
c.815G>T (p.Cys272Phe)
c.704G>T (p.Cys235Phe)
c.656G>T (p.Cys219Phe)
c.653G>T (p.Cys218Phe)
c.707G>T (p.Cys236Phe)
c.818G>T (p.Cys273Phe)
c.946-211420G>T (n.946-211420G>T)
6g.44230471C>ACA364306282POLR1C,SLC29A1c.579C>A (p.Cys193Ter)
n.977C>A
c.522C>A (p.Cys174Ter)
c.266C>A
n.768C>A
c.816C>A (p.Cys272Ter)
c.705C>A (p.Cys235Ter)
c.657C>A (p.Cys219Ter)
c.654C>A (p.Cys218Ter)
c.708C>A (p.Cys236Ter)
c.819C>A (p.Cys273Ter)
c.946-211419C>A (n.946-211419C>A)
6g.44230471C=CA1624908274POLR1C,SLC29A1c.579C= (p.Cys193=)
n.977C=
c.522C= (p.Cys174=)
c.266C=
n.768C=
c.816C= (p.Cys272=)
c.705C= (p.Cys235=)
c.657C= (p.Cys219=)
c.654C= (p.Cys218=)
c.708C= (p.Cys236=)
c.819C= (p.Cys273=)
c.946-211419C= (n.946-211419C=)
6g.44230471C>GCA364306281POLR1C,SLC29A1c.579C>G (p.Cys193Trp)
n.977C>G
c.522C>G (p.Cys174Trp)
c.266C>G
n.768C>G
c.816C>G (p.Cys272Trp)
c.705C>G (p.Cys235Trp)
c.657C>G (p.Cys219Trp)
c.654C>G (p.Cys218Trp)
c.708C>G (p.Cys236Trp)
c.819C>G (p.Cys273Trp)
c.946-211419C>G (n.946-211419C>G)
6g.44230471C>TCA3831593POLR1C,SLC29A1c.579C>T (p.Cys193=)
n.977C>T
c.522C>T (p.Cys174=)
c.266C>T
n.768C>T
c.816C>T (p.Cys272=)
c.705C>T (p.Cys235=)
c.657C>T (p.Cys219=)
c.654C>T (p.Cys218=)
c.708C>T (p.Cys236=)
c.819C>T (p.Cys273=)
c.946-211419C>T (n.946-211419C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.44230472G>ACA3831594POLR1C,SLC29A1c.580G>A (p.Ala194Thr)
n.978G>A
c.523G>A (p.Ala175Thr)
c.267G>A
n.769G>A
c.817G>A (p.Ala273Thr)
c.706G>A (p.Ala236Thr)
c.658G>A (p.Ala220Thr)
c.655G>A (p.Ala219Thr)
c.709G>A (p.Ala237Thr)
c.820G>A (p.Ala274Thr)
c.946-211418G>A (n.946-211418G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44230472G>CCA364306283POLR1C,SLC29A1c.580G>C (p.Ala194Pro)
n.978G>C
c.523G>C (p.Ala175Pro)
c.267G>C
n.769G>C
c.817G>C (p.Ala273Pro)
c.706G>C (p.Ala236Pro)
c.658G>C (p.Ala220Pro)
c.655G>C (p.Ala219Pro)
c.709G>C (p.Ala237Pro)
c.820G>C (p.Ala274Pro)
c.946-211418G>C (n.946-211418G>C)
 gnomAD v4
6g.44230472G=CA1624908278POLR1C,SLC29A1c.580G= (p.Ala194=)
n.978G=
c.523G= (p.Ala175=)
c.267G=
n.769G=
c.817G= (p.Ala273=)
c.706G= (p.Ala236=)
c.658G= (p.Ala220=)
c.655G= (p.Ala219=)
c.709G= (p.Ala237=)
c.820G= (p.Ala274=)
c.946-211418G= (n.946-211418G=)
6g.44230472G>TCA3831595POLR1C,SLC29A1c.580G>T (p.Ala194Ser)
n.978G>T
c.523G>T (p.Ala175Ser)
c.267G>T
n.769G>T
c.817G>T (p.Ala273Ser)
c.706G>T (p.Ala236Ser)
c.658G>T (p.Ala220Ser)
c.655G>T (p.Ala219Ser)
c.709G>T (p.Ala237Ser)
c.820G>T (p.Ala274Ser)
c.946-211418G>T (n.946-211418G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44230473C>ACA364306284POLR1C,SLC29A1c.581C>A (p.Ala194Asp)
n.979C>A
c.524C>A (p.Ala175Asp)
c.268C>A
n.770C>A
c.818C>A (p.Ala273Asp)
c.707C>A (p.Ala236Asp)
c.659C>A (p.Ala220Asp)
c.656C>A (p.Ala219Asp)
c.710C>A (p.Ala237Asp)
c.821C>A (p.Ala274Asp)
c.946-211417C>A (n.946-211417C>A)
6g.44230473C>GCA364306285POLR1C,SLC29A1c.581C>G (p.Ala194Gly)
n.979C>G
c.524C>G (p.Ala175Gly)
c.268C>G
n.770C>G
c.818C>G (p.Ala273Gly)
c.707C>G (p.Ala236Gly)
c.659C>G (p.Ala220Gly)
c.656C>G (p.Ala219Gly)
c.710C>G (p.Ala237Gly)
c.821C>G (p.Ala274Gly)
c.946-211417C>G (n.946-211417C>G)
6g.44230473C>TCA364306286POLR1C,SLC29A1c.581C>T (p.Ala194Val)
n.979C>T
c.524C>T (p.Ala175Val)
c.268C>T
n.770C>T
c.818C>T (p.Ala273Val)
c.707C>T (p.Ala236Val)
c.659C>T (p.Ala220Val)
c.656C>T (p.Ala219Val)
c.710C>T (p.Ala237Val)
c.821C>T (p.Ala274Val)
c.946-211417C>T (n.946-211417C>T)
6g.44230474T>ACA450308443POLR1C,SLC29A1c.582T>A (p.Ala194=)
n.980T>A
c.525T>A (p.Ala175=)
c.269T>A
n.771T>A
c.819T>A (p.Ala273=)
c.708T>A (p.Ala236=)
c.660T>A (p.Ala220=)
c.657T>A (p.Ala219=)
c.711T>A (p.Ala237=)
c.822T>A (p.Ala274=)
c.946-211416T>A (n.946-211416T>A)
6g.44230474T>CCA450308444POLR1C,SLC29A1c.582T>C (p.Ala194=)
n.980T>C
c.525T>C (p.Ala175=)
c.269T>C
n.771T>C
c.819T>C (p.Ala273=)
c.708T>C (p.Ala236=)
c.660T>C (p.Ala220=)
c.657T>C (p.Ala219=)
c.711T>C (p.Ala237=)
c.822T>C (p.Ala274=)
c.946-211416T>C (n.946-211416T>C)
6g.44230474T>GCA450308445POLR1C,SLC29A1c.582T>G (p.Ala194=)
n.980T>G
c.525T>G (p.Ala175=)
c.269T>G
n.771T>G
c.819T>G (p.Ala273=)
c.708T>G (p.Ala236=)
c.660T>G (p.Ala220=)
c.657T>G (p.Ala219=)
c.711T>G (p.Ala237=)
c.822T>G (p.Ala274=)
c.946-211416T>G (n.946-211416T>G)
6g.44230475A>CCA364306287POLR1C,SLC29A1c.583A>C (p.Ile195Leu)
n.981A>C
c.526A>C (p.Ile176Leu)
c.270A>C
n.772A>C
c.820A>C (p.Ile274Leu)
c.709A>C (p.Ile237Leu)
c.661A>C (p.Ile221Leu)
c.658A>C (p.Ile220Leu)
c.712A>C (p.Ile238Leu)
c.823A>C (p.Ile275Leu)
c.946-211415A>C (n.946-211415A>C)
6g.44230475A>GCA364306289POLR1C,SLC29A1c.583A>G (p.Ile195Val)
n.981A>G
c.526A>G (p.Ile176Val)
c.270A>G
n.772A>G
c.820A>G (p.Ile274Val)
c.709A>G (p.Ile237Val)
c.661A>G (p.Ile221Val)
c.658A>G (p.Ile220Val)
c.712A>G (p.Ile238Val)
c.823A>G (p.Ile275Val)
c.946-211415A>G (n.946-211415A>G)
6g.44230475A>TCA364306288POLR1C,SLC29A1c.583A>T (p.Ile195Phe)
n.981A>T
c.526A>T (p.Ile176Phe)
c.270A>T
n.772A>T
c.820A>T (p.Ile274Phe)
c.709A>T (p.Ile237Phe)
c.661A>T (p.Ile221Phe)
c.658A>T (p.Ile220Phe)
c.712A>T (p.Ile238Phe)
c.823A>T (p.Ile275Phe)
c.946-211415A>T (n.946-211415A>T)
6g.44230476T>ACA364306290POLR1C,SLC29A1c.584T>A (p.Ile195Asn)
n.982T>A
c.527T>A (p.Ile176Asn)
c.271T>A
n.773T>A
c.821T>A (p.Ile274Asn)
c.710T>A (p.Ile237Asn)
c.662T>A (p.Ile221Asn)
c.659T>A (p.Ile220Asn)
c.713T>A (p.Ile238Asn)
c.824T>A (p.Ile275Asn)
c.946-211414T>A (n.946-211414T>A)
6g.44230476T>CCA364306291POLR1C,SLC29A1c.584T>C (p.Ile195Thr)
n.982T>C
c.527T>C (p.Ile176Thr)
c.271T>C
n.773T>C
c.821T>C (p.Ile274Thr)
c.710T>C (p.Ile237Thr)
c.662T>C (p.Ile221Thr)
c.659T>C (p.Ile220Thr)
c.713T>C (p.Ile238Thr)
c.824T>C (p.Ile275Thr)
c.946-211414T>C (n.946-211414T>C)
6g.44230476T>GCA364306292POLR1C,SLC29A1c.584T>G (p.Ile195Ser)
n.982T>G
c.527T>G (p.Ile176Ser)
c.271T>G
n.773T>G
c.821T>G (p.Ile274Ser)
c.710T>G (p.Ile237Ser)
c.662T>G (p.Ile221Ser)
c.659T>G (p.Ile220Ser)
c.713T>G (p.Ile238Ser)
c.824T>G (p.Ile275Ser)
c.946-211414T>G (n.946-211414T>G)
6g.44230477T>ACA450308448POLR1C,SLC29A1c.585T>A (p.Ile195=)
n.983T>A
c.528T>A (p.Ile176=)
c.272T>A
n.774T>A
c.822T>A (p.Ile274=)
c.711T>A (p.Ile237=)
c.663T>A (p.Ile221=)
c.660T>A (p.Ile220=)
c.714T>A (p.Ile238=)
c.825T>A (p.Ile275=)
c.946-211413T>A (n.946-211413T>A)
6g.44230477T>CCA450308449POLR1C,SLC29A1c.585T>C (p.Ile195=)
n.983T>C
c.528T>C (p.Ile176=)
c.272T>C
n.774T>C
c.822T>C (p.Ile274=)
c.711T>C (p.Ile237=)
c.663T>C (p.Ile221=)
c.660T>C (p.Ile220=)
c.714T>C (p.Ile238=)
c.825T>C (p.Ile275=)
c.946-211413T>C (n.946-211413T>C)
6g.44230477T>GCA364306293POLR1C,SLC29A1c.585T>G (p.Ile195Met)
n.983T>G
c.528T>G (p.Ile176Met)
c.272T>G
n.774T>G
c.822T>G (p.Ile274Met)
c.711T>G (p.Ile237Met)
c.663T>G (p.Ile221Met)
c.660T>G (p.Ile220Met)
c.714T>G (p.Ile238Met)
c.825T>G (p.Ile275Met)
c.946-211413T>G (n.946-211413T>G)
6g.44230478G>ACA364306294POLR1C,SLC29A1c.586G>A (p.Ala196Thr)
n.984G>A
c.529G>A (p.Ala177Thr)
c.273G>A
n.775G>A
c.823G>A (p.Ala275Thr)
c.712G>A (p.Ala238Thr)
c.664G>A (p.Ala222Thr)
c.661G>A (p.Ala221Thr)
c.715G>A (p.Ala239Thr)
c.826G>A (p.Ala276Thr)
c.946-211412G>A (n.946-211412G>A)
6g.44230478G>CCA364306295POLR1C,SLC29A1c.586G>C (p.Ala196Pro)
n.984G>C
c.529G>C (p.Ala177Pro)
c.273G>C
n.775G>C
c.823G>C (p.Ala275Pro)
c.712G>C (p.Ala238Pro)
c.664G>C (p.Ala222Pro)
c.661G>C (p.Ala221Pro)
c.715G>C (p.Ala239Pro)
c.826G>C (p.Ala276Pro)
c.946-211412G>C (n.946-211412G>C)
6g.44230478G>TCA364306296POLR1C,SLC29A1c.586G>T (p.Ala196Ser)
n.984G>T
c.529G>T (p.Ala177Ser)
c.273G>T
n.775G>T
c.823G>T (p.Ala275Ser)
c.712G>T (p.Ala238Ser)
c.664G>T (p.Ala222Ser)
c.661G>T (p.Ala221Ser)
c.715G>T (p.Ala239Ser)
c.826G>T (p.Ala276Ser)
c.946-211412G>T (n.946-211412G>T)
6g.44230479C>ACA364306297POLR1C,SLC29A1c.587C>A (p.Ala196Asp)
n.985C>A
c.530C>A (p.Ala177Asp)
c.274C>A
n.776C>A
c.824C>A (p.Ala275Asp)
c.713C>A (p.Ala238Asp)
c.665C>A (p.Ala222Asp)
c.662C>A (p.Ala221Asp)
c.716C>A (p.Ala239Asp)
c.827C>A (p.Ala276Asp)
c.946-211411C>A (n.946-211411C>A)
6g.44230479C=CA1624908283POLR1C,SLC29A1c.587C= (p.Ala196=)
n.985C=
c.530C= (p.Ala177=)
c.274C=
n.776C=
c.824C= (p.Ala275=)
c.713C= (p.Ala238=)
c.665C= (p.Ala222=)
c.662C= (p.Ala221=)
c.716C= (p.Ala239=)
c.827C= (p.Ala276=)
c.946-211411C= (n.946-211411C=)
6g.44230479C>GCA364306298POLR1C,SLC29A1c.587C>G (p.Ala196Gly)
n.985C>G
c.530C>G (p.Ala177Gly)
c.274C>G
n.776C>G
c.824C>G (p.Ala275Gly)
c.713C>G (p.Ala238Gly)
c.665C>G (p.Ala222Gly)
c.662C>G (p.Ala221Gly)
c.716C>G (p.Ala239Gly)
c.827C>G (p.Ala276Gly)
c.946-211411C>G (n.946-211411C>G)
6g.44230479C>TCA364306299POLR1C,SLC29A1c.587C>T (p.Ala196Val)
n.985C>T
c.530C>T (p.Ala177Val)
c.274C>T
n.776C>T
c.824C>T (p.Ala275Val)
c.713C>T (p.Ala238Val)
c.665C>T (p.Ala222Val)
c.662C>T (p.Ala221Val)
c.716C>T (p.Ala239Val)
c.827C>T (p.Ala276Val)
c.946-211411C>T (n.946-211411C>T)
 dbSNP gnomAD v3 gnomAD v4
6g.44230480C>ACA450308453POLR1C,SLC29A1c.588C>A (p.Ala196=)
n.986C>A
c.531C>A (p.Ala177=)
c.275C>A
n.777C>A
c.825C>A (p.Ala275=)
c.714C>A (p.Ala238=)
c.666C>A (p.Ala222=)
c.663C>A (p.Ala221=)
c.717C>A (p.Ala239=)
c.828C>A (p.Ala276=)
c.946-211410C>A (n.946-211410C>A)
6g.44230480C=CA1624908285POLR1C,SLC29A1c.588C= (p.Ala196=)
n.986C=
c.531C= (p.Ala177=)
c.275C=
n.777C=
c.825C= (p.Ala275=)
c.714C= (p.Ala238=)
c.666C= (p.Ala222=)
c.663C= (p.Ala221=)
c.717C= (p.Ala239=)
c.828C= (p.Ala276=)
c.946-211410C= (n.946-211410C=)
6g.44230480C>GCA450308454POLR1C,SLC29A1c.588C>G (p.Ala196=)
n.986C>G
c.531C>G (p.Ala177=)
c.275C>G
n.777C>G
c.825C>G (p.Ala275=)
c.714C>G (p.Ala238=)
c.666C>G (p.Ala222=)
c.663C>G (p.Ala221=)
c.717C>G (p.Ala239=)
c.828C>G (p.Ala276=)
c.946-211410C>G (n.946-211410C>G)
6g.44230480C>TCA450308455POLR1C,SLC29A1c.588C>T (p.Ala196=)
n.986C>T
c.531C>T (p.Ala177=)
c.275C>T
n.777C>T
c.825C>T (p.Ala275=)
c.714C>T (p.Ala238=)
c.666C>T (p.Ala222=)
c.663C>T (p.Ala221=)
c.717C>T (p.Ala239=)
c.828C>T (p.Ala276=)
c.946-211410C>T (n.946-211410C>T)
 dbSNP gnomAD v4
6g.44230481A=CA1624908287POLR1C,SLC29A1c.589A= (p.Ser197=)
n.987A=
c.532A= (p.Ser178=)
c.276A=
n.778A=
c.826A= (p.Ser276=)
c.715A= (p.Ser239=)
c.667A= (p.Ser223=)
c.664A= (p.Ser222=)
c.718A= (p.Ser240=)
c.829A= (p.Ser277=)
c.946-211409A= (n.946-211409A=)
6g.44230481A>CCA364306300POLR1C,SLC29A1c.589A>C (p.Ser197Arg)
n.987A>C
c.532A>C (p.Ser178Arg)
c.276A>C
n.778A>C
c.826A>C (p.Ser276Arg)
c.715A>C (p.Ser239Arg)
c.667A>C (p.Ser223Arg)
c.664A>C (p.Ser222Arg)
c.718A>C (p.Ser240Arg)
c.829A>C (p.Ser277Arg)
c.946-211409A>C (n.946-211409A>C)
 gnomAD v4
6g.44230481A>GCA364306301POLR1C,SLC29A1c.589A>G (p.Ser197Gly)
n.987A>G
c.532A>G (p.Ser178Gly)
c.276A>G
n.778A>G
c.826A>G (p.Ser276Gly)
c.715A>G (p.Ser239Gly)
c.667A>G (p.Ser223Gly)
c.664A>G (p.Ser222Gly)
c.718A>G (p.Ser240Gly)
c.829A>G (p.Ser277Gly)
c.946-211409A>G (n.946-211409A>G)
 dbSNP gnomAD v4
6g.44230481A>TCA364306302POLR1C,SLC29A1c.589A>T (p.Ser197Cys)
n.987A>T
c.532A>T (p.Ser178Cys)
c.276A>T
n.778A>T
c.826A>T (p.Ser276Cys)
c.715A>T (p.Ser239Cys)
c.667A>T (p.Ser223Cys)
c.664A>T (p.Ser222Cys)
c.718A>T (p.Ser240Cys)
c.829A>T (p.Ser277Cys)
c.946-211409A>T (n.946-211409A>T)
6g.44230482G>ACA364306305POLR1C,SLC29A1c.589+1G>A (n.589+1G>A)
n.987+1G>A
c.532+1G>A (n.532+1G>A)
c.276+1G>A
n.778+1G>A
c.826+1G>A (n.826+1G>A)
c.715+1G>A (n.715+1G>A)
c.667+1G>A (n.667+1G>A)
c.664+1G>A (n.664+1G>A)
c.718+1G>A (n.718+1G>A)
c.829+1G>A (n.829+1G>A)
c.946-211408G>A (n.946-211408G>A)
6g.44230482G>CCA364306303POLR1C,SLC29A1c.589+1G>C (n.589+1G>C)
n.987+1G>C
c.532+1G>C (n.532+1G>C)
c.276+1G>C
n.778+1G>C
c.826+1G>C (n.826+1G>C)
c.715+1G>C (n.715+1G>C)
c.667+1G>C (n.667+1G>C)
c.664+1G>C (n.664+1G>C)
c.718+1G>C (n.718+1G>C)
c.829+1G>C (n.829+1G>C)
c.946-211408G>C (n.946-211408G>C)
 gnomAD v4
6g.44230482G>TCA364306304POLR1C,SLC29A1c.589+1G>T (n.589+1G>T)
n.987+1G>T
c.532+1G>T (n.532+1G>T)
c.276+1G>T
n.778+1G>T
c.826+1G>T (n.826+1G>T)
c.715+1G>T (n.715+1G>T)
c.667+1G>T (n.667+1G>T)
c.664+1G>T (n.664+1G>T)
c.718+1G>T (n.718+1G>T)
c.829+1G>T (n.829+1G>T)
c.946-211408G>T (n.946-211408G>T)
6g.44230484_44230569delCA2678935189POLR1C,SLC29A1c.589+3_591del
n.987+3_989del
c.532+3_534del
c.276+3_278del
n.778+3_780del
c.826+3_828del
c.715+3_717del
c.667+3_669del
c.664+3_666del
c.718+3_720del
c.829+3_831del
c.946-211406_946-211321del (n.946-211406_946-211321del)
 gnomAD v4
6g.44230483T>ACA364306306POLR1C,SLC29A1c.589+2T>A (n.589+2T>A)
n.987+2T>A
c.532+2T>A (n.532+2T>A)
c.276+2T>A
n.778+2T>A
c.826+2T>A (n.826+2T>A)
c.715+2T>A (n.715+2T>A)
c.667+2T>A (n.667+2T>A)
c.664+2T>A (n.664+2T>A)
c.718+2T>A (n.718+2T>A)
c.829+2T>A (n.829+2T>A)
c.946-211407T>A (n.946-211407T>A)
6g.44230483T>CCA364306307POLR1C,SLC29A1c.589+2T>C (n.589+2T>C)
n.987+2T>C
c.532+2T>C (n.532+2T>C)
c.276+2T>C
n.778+2T>C
c.826+2T>C (n.826+2T>C)
c.715+2T>C (n.715+2T>C)
c.667+2T>C (n.667+2T>C)
c.664+2T>C (n.664+2T>C)
c.718+2T>C (n.718+2T>C)
c.829+2T>C (n.829+2T>C)
c.946-211407T>C (n.946-211407T>C)
6g.44230483T>GCA364306308POLR1C,SLC29A1c.589+2T>G (n.589+2T>G)
n.987+2T>G
c.532+2T>G (n.532+2T>G)
c.276+2T>G
n.778+2T>G
c.826+2T>G (n.826+2T>G)
c.715+2T>G (n.715+2T>G)
c.667+2T>G (n.667+2T>G)
c.664+2T>G (n.664+2T>G)
c.718+2T>G (n.718+2T>G)
c.829+2T>G (n.829+2T>G)
c.946-211407T>G (n.946-211407T>G)
6g.44230488C=CA1624908290POLR1C,SLC29A1c.589+7C= (n.589+7C=)
n.987+7C=
c.532+7C= (n.532+7C=)
c.276+7C=
n.778+7C=
c.826+7C= (n.826+7C=)
c.715+7C= (n.715+7C=)
c.667+7C= (n.667+7C=)
c.664+7C= (n.664+7C=)
c.718+7C= (n.718+7C=)
c.829+7C= (n.829+7C=)
c.946-211402C= (n.946-211402C=)
6g.44230488C>GCA1088440510POLR1C,SLC29A1c.589+7C>G (n.589+7C>G)
n.987+7C>G
c.532+7C>G (n.532+7C>G)
c.276+7C>G
n.778+7C>G
c.826+7C>G (n.826+7C>G)
c.715+7C>G (n.715+7C>G)
c.667+7C>G (n.667+7C>G)
c.664+7C>G (n.664+7C>G)
c.718+7C>G (n.718+7C>G)
c.829+7C>G (n.829+7C>G)
c.946-211402C>G (n.946-211402C>G)
 dbSNP gnomAD v3 gnomAD v4
6g.44230488_44230489insTTTCA2547999203POLR1C,SLC29A1c.589+7_589+8insTTT (n.589+7_589+8insTTT)
n.987+7_987+8insTTT
c.532+7_532+8insTTT (n.532+7_532+8insTTT)
c.276+7_276+8insTTT
n.778+7_778+8insTTT
c.826+7_826+8insTTT (n.826+7_826+8insTTT)
c.715+7_715+8insTTT (n.715+7_715+8insTTT)
c.667+7_667+8insTTT (n.667+7_667+8insTTT)
c.664+7_664+8insTTT (n.664+7_664+8insTTT)
c.718+7_718+8insTTT (n.718+7_718+8insTTT)
c.829+7_829+8insTTT (n.829+7_829+8insTTT)
c.946-211402_946-211401insTTT (n.946-211402_946-211401insTTT)
6g.44230489C>ACA2678935190POLR1C,SLC29A1c.589+8C>A (n.589+8C>A)
n.987+8C>A
c.532+8C>A (n.532+8C>A)
c.276+8C>A
n.778+8C>A
c.826+8C>A (n.826+8C>A)
c.715+8C>A (n.715+8C>A)
c.667+8C>A (n.667+8C>A)
c.664+8C>A (n.664+8C>A)
c.718+8C>A (n.718+8C>A)
c.829+8C>A (n.829+8C>A)
c.946-211401C>A (n.946-211401C>A)
 gnomAD v4
6g.44230489C=CA1624908293POLR1C,SLC29A1c.589+8C= (n.589+8C=)
n.987+8C=
c.532+8C= (n.532+8C=)
c.276+8C=
n.778+8C=
c.826+8C= (n.826+8C=)
c.715+8C= (n.715+8C=)
c.667+8C= (n.667+8C=)
c.664+8C= (n.664+8C=)
c.718+8C= (n.718+8C=)
c.829+8C= (n.829+8C=)
c.946-211401C= (n.946-211401C=)
6g.44230489C>TCA3831596POLR1C,SLC29A1c.589+8C>T (n.589+8C>T)
n.987+8C>T
c.532+8C>T (n.532+8C>T)
c.276+8C>T
n.778+8C>T
c.826+8C>T (n.826+8C>T)
c.715+8C>T (n.715+8C>T)
c.667+8C>T (n.667+8C>T)
c.664+8C>T (n.664+8C>T)
c.718+8C>T (n.718+8C>T)
c.829+8C>T (n.829+8C>T)
c.946-211401C>T (n.946-211401C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44230489_44230490insTCA2521577823POLR1C,SLC29A1c.589+8_589+9insT (n.589+8_589+9insT)
n.987+8_987+9insT
c.532+8_532+9insT (n.532+8_532+9insT)
c.276+8_276+9insT
n.778+8_778+9insT
c.826+8_826+9insT (n.826+8_826+9insT)
c.715+8_715+9insT (n.715+8_715+9insT)
c.667+8_667+9insT (n.667+8_667+9insT)
c.664+8_664+9insT (n.664+8_664+9insT)
c.718+8_718+9insT (n.718+8_718+9insT)
c.829+8_829+9insT (n.829+8_829+9insT)
c.946-211401_946-211400insT (n.946-211401_946-211400insT)
6g.44230490G>ACA567154146POLR1C,SLC29A1c.589+9G>A (n.589+9G>A)
n.987+9G>A
c.532+9G>A (n.532+9G>A)
c.276+9G>A
n.778+9G>A
c.826+9G>A (n.826+9G>A)
c.715+9G>A (n.715+9G>A)
c.667+9G>A (n.667+9G>A)
c.664+9G>A (n.664+9G>A)
c.718+9G>A (n.718+9G>A)
c.829+9G>A (n.829+9G>A)
c.946-211400G>A (n.946-211400G>A)
 dbSNP gnomAD v2 gnomAD v4
6g.44230490G=CA1624908295POLR1C,SLC29A1c.589+9G= (n.589+9G=)
n.987+9G=
c.532+9G= (n.532+9G=)
c.276+9G=
n.778+9G=
c.826+9G= (n.826+9G=)
c.715+9G= (n.715+9G=)
c.667+9G= (n.667+9G=)
c.664+9G= (n.664+9G=)
c.718+9G= (n.718+9G=)
c.829+9G= (n.829+9G=)
c.946-211400G= (n.946-211400G=)
6g.44230491G>TCA2536075641POLR1C,SLC29A1c.589+10G>T (n.589+10G>T)
n.987+10G>T
c.532+10G>T (n.532+10G>T)
c.276+10G>T
n.778+10G>T
c.826+10G>T (n.826+10G>T)
c.715+10G>T (n.715+10G>T)
c.667+10G>T (n.667+10G>T)
c.664+10G>T (n.664+10G>T)
c.718+10G>T (n.718+10G>T)
c.829+10G>T (n.829+10G>T)
c.946-211399G>T (n.946-211399G>T)
6g.44230492C>ACA2678935191POLR1C,SLC29A1c.589+11C>A (n.589+11C>A)
n.987+11C>A
c.532+11C>A (n.532+11C>A)
c.276+11C>A
n.778+11C>A
c.826+11C>A (n.826+11C>A)
c.715+11C>A (n.715+11C>A)
c.667+11C>A (n.667+11C>A)
c.664+11C>A (n.664+11C>A)
c.718+11C>A (n.718+11C>A)
c.829+11C>A (n.829+11C>A)
c.946-211398C>A (n.946-211398C>A)
 gnomAD v4
6g.44230492C=CA1624908297POLR1C,SLC29A1c.589+11C= (n.589+11C=)
n.987+11C=
c.532+11C= (n.532+11C=)
c.276+11C=
n.778+11C=
c.826+11C= (n.826+11C=)
c.715+11C= (n.715+11C=)
c.667+11C= (n.667+11C=)
c.664+11C= (n.664+11C=)
c.718+11C= (n.718+11C=)
c.829+11C= (n.829+11C=)
c.946-211398C= (n.946-211398C=)
6g.44230492C>TCA1624908299POLR1C,SLC29A1c.589+11C>T (n.589+11C>T)
n.987+11C>T
c.532+11C>T (n.532+11C>T)
c.276+11C>T
n.778+11C>T
c.826+11C>T (n.826+11C>T)
c.715+11C>T (n.715+11C>T)
c.667+11C>T (n.667+11C>T)
c.664+11C>T (n.664+11C>T)
c.718+11C>T (n.718+11C>T)
c.829+11C>T (n.829+11C>T)
c.946-211398C>T (n.946-211398C>T)
 dbSNP gnomAD v4
6g.44230494A=CA1624908304POLR1C,SLC29A1c.589+13A= (n.589+13A=)
n.987+13A=
c.532+13A= (n.532+13A=)
c.276+13A=
n.778+13A=
c.826+13A= (n.826+13A=)
c.715+13A= (n.715+13A=)
c.667+13A= (n.667+13A=)
c.664+13A= (n.664+13A=)
c.718+13A= (n.718+13A=)
c.829+13A= (n.829+13A=)
c.946-211396A= (n.946-211396A=)
6g.44230494A>CCA1088440517POLR1C,SLC29A1c.589+13A>C (n.589+13A>C)
n.987+13A>C
c.532+13A>C (n.532+13A>C)
c.276+13A>C
n.778+13A>C
c.826+13A>C (n.826+13A>C)
c.715+13A>C (n.715+13A>C)
c.667+13A>C (n.667+13A>C)
c.664+13A>C (n.664+13A>C)
c.718+13A>C (n.718+13A>C)
c.829+13A>C (n.829+13A>C)
c.946-211396A>C (n.946-211396A>C)
 dbSNP gnomAD v3 gnomAD v4
6g.44230494A>GCA3831597POLR1C,SLC29A1c.589+13A>G (n.589+13A>G)
n.987+13A>G
c.532+13A>G (n.532+13A>G)
c.276+13A>G
n.778+13A>G
c.826+13A>G (n.826+13A>G)
c.715+13A>G (n.715+13A>G)
c.667+13A>G (n.667+13A>G)
c.664+13A>G (n.664+13A>G)
c.718+13A>G (n.718+13A>G)
c.829+13A>G (n.829+13A>G)
c.946-211396A>G (n.946-211396A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44230495T>CCA2578632031POLR1C,SLC29A1c.589+14T>C (n.589+14T>C)
n.987+14T>C
c.532+14T>C (n.532+14T>C)
c.276+14T>C
n.778+14T>C
c.826+14T>C (n.826+14T>C)
c.715+14T>C (n.715+14T>C)
c.667+14T>C (n.667+14T>C)
c.664+14T>C (n.664+14T>C)
c.718+14T>C (n.718+14T>C)
c.829+14T>C (n.829+14T>C)
c.946-211395T>C (n.946-211395T>C)
 gnomAD v4
6g.44230495T>GCA138375219POLR1C,SLC29A1c.589+14T>G (n.589+14T>G)
n.987+14T>G
c.532+14T>G (n.532+14T>G)
c.276+14T>G
n.778+14T>G
c.826+14T>G (n.826+14T>G)
c.715+14T>G (n.715+14T>G)
c.667+14T>G (n.667+14T>G)
c.664+14T>G (n.664+14T>G)
c.718+14T>G (n.718+14T>G)
c.829+14T>G (n.829+14T>G)
c.946-211395T>G (n.946-211395T>G)
 dbSNP
6g.44230495T=CA1624908306POLR1C,SLC29A1c.589+14T= (n.589+14T=)
n.987+14T=
c.532+14T= (n.532+14T=)
c.276+14T=
n.778+14T=
c.826+14T= (n.826+14T=)
c.715+14T= (n.715+14T=)
c.667+14T= (n.667+14T=)
c.664+14T= (n.664+14T=)
c.718+14T= (n.718+14T=)
c.829+14T= (n.829+14T=)
c.946-211395T= (n.946-211395T=)
6g.44230498A=CA1624908308POLR1C,SLC29A1c.589+17A= (n.589+17A=)
n.987+17A=
c.532+17A= (n.532+17A=)
c.276+17A=
n.778+17A=
c.826+17A= (n.826+17A=)
c.715+17A= (n.715+17A=)
c.667+17A= (n.667+17A=)
c.664+17A= (n.664+17A=)
c.718+17A= (n.718+17A=)
c.829+17A= (n.829+17A=)
c.946-211392A= (n.946-211392A=)
6g.44230498A>GCA3831598POLR1C,SLC29A1c.589+17A>G (n.589+17A>G)
n.987+17A>G
c.532+17A>G (n.532+17A>G)
c.276+17A>G
n.778+17A>G
c.826+17A>G (n.826+17A>G)
c.715+17A>G (n.715+17A>G)
c.667+17A>G (n.667+17A>G)
c.664+17A>G (n.664+17A>G)
c.718+17A>G (n.718+17A>G)
c.829+17A>G (n.829+17A>G)
c.946-211392A>G (n.946-211392A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44230499C>ACA2678935192POLR1C,SLC29A1c.589+18C>A (n.589+18C>A)
n.987+18C>A
c.532+18C>A (n.532+18C>A)
c.276+18C>A
n.778+18C>A
c.826+18C>A (n.826+18C>A)
c.715+18C>A (n.715+18C>A)
c.667+18C>A (n.667+18C>A)
c.664+18C>A (n.664+18C>A)
c.718+18C>A (n.718+18C>A)
c.829+18C>A (n.829+18C>A)
c.946-211391C>A (n.946-211391C>A)
 gnomAD v4
6g.44230499C=CA1624908312POLR1C,SLC29A1c.589+18C= (n.589+18C=)
n.987+18C=
c.532+18C= (n.532+18C=)
c.276+18C=
n.778+18C=
c.826+18C= (n.826+18C=)
c.715+18C= (n.715+18C=)
c.667+18C= (n.667+18C=)
c.664+18C= (n.664+18C=)
c.718+18C= (n.718+18C=)
c.829+18C= (n.829+18C=)
c.946-211391C= (n.946-211391C=)
6g.44230499C>TCA3831599POLR1C,SLC29A1c.589+18C>T (n.589+18C>T)
n.987+18C>T
c.532+18C>T (n.532+18C>T)
c.276+18C>T
n.778+18C>T
c.826+18C>T (n.826+18C>T)
c.715+18C>T (n.715+18C>T)
c.667+18C>T (n.667+18C>T)
c.664+18C>T (n.664+18C>T)
c.718+18C>T (n.718+18C>T)
c.829+18C>T (n.829+18C>T)
c.946-211391C>T (n.946-211391C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.44230500C>TCA2678935193POLR1C,SLC29A1c.589+19C>T (n.589+19C>T)
n.987+19C>T
c.532+19C>T (n.532+19C>T)
c.276+19C>T
n.778+19C>T
c.826+19C>T (n.826+19C>T)
c.715+19C>T (n.715+19C>T)
c.667+19C>T (n.667+19C>T)
c.664+19C>T (n.664+19C>T)
c.718+19C>T (n.718+19C>T)
c.829+19C>T (n.829+19C>T)
c.946-211390C>T (n.946-211390C>T)
 gnomAD v4
6g.44230503C>TCA2578632032POLR1C,SLC29A1c.589+22C>T (n.589+22C>T)
n.987+22C>T
c.532+22C>T (n.532+22C>T)
c.276+22C>T
n.778+22C>T
c.826+22C>T (n.826+22C>T)
c.715+22C>T (n.715+22C>T)
c.667+22C>T (n.667+22C>T)
c.664+22C>T (n.664+22C>T)
c.718+22C>T (n.718+22C>T)
c.829+22C>T (n.829+22C>T)
c.946-211387C>T (n.946-211387C>T)
6g.44230505C>TCA2678935194POLR1C,SLC29A1c.589+24C>T (n.589+24C>T)
n.987+24C>T
c.532+24C>T (n.532+24C>T)
c.276+24C>T
n.778+24C>T
c.826+24C>T (n.826+24C>T)
c.715+24C>T (n.715+24C>T)
c.667+24C>T (n.667+24C>T)
c.664+24C>T (n.664+24C>T)
c.718+24C>T (n.718+24C>T)
c.829+24C>T (n.829+24C>T)
c.946-211385C>T (n.946-211385C>T)
 gnomAD v4
6g.44230506A>GCA2596218490POLR1C,SLC29A1c.589+25A>G (n.589+25A>G)
n.987+25A>G
c.532+25A>G (n.532+25A>G)
c.276+25A>G
n.778+25A>G
c.826+25A>G (n.826+25A>G)
c.715+25A>G (n.715+25A>G)
c.667+25A>G (n.667+25A>G)
c.664+25A>G (n.664+25A>G)
c.718+25A>G (n.718+25A>G)
c.829+25A>G (n.829+25A>G)
c.946-211384A>G (n.946-211384A>G)
 dbSNP gnomAD v3 gnomAD v4
6g.44230507G>CCA2678935195POLR1C,SLC29A1c.589+26G>C (n.589+26G>C)
n.987+26G>C
c.532+26G>C (n.532+26G>C)
c.276+26G>C
n.778+26G>C
c.826+26G>C (n.826+26G>C)
c.715+26G>C (n.715+26G>C)
c.667+26G>C (n.667+26G>C)
c.664+26G>C (n.664+26G>C)
c.718+26G>C (n.718+26G>C)
c.829+26G>C (n.829+26G>C)
c.946-211383G>C (n.946-211383G>C)
 gnomAD v4
6g.44230508T>ACA1624908317POLR1C,SLC29A1c.589+27T>A (n.589+27T>A)
n.987+27T>A
c.532+27T>A (n.532+27T>A)
c.276+27T>A
n.778+27T>A
c.826+27T>A (n.826+27T>A)
c.715+27T>A (n.715+27T>A)
c.667+27T>A (n.667+27T>A)
c.664+27T>A (n.664+27T>A)
c.718+27T>A (n.718+27T>A)
c.829+27T>A (n.829+27T>A)
c.946-211382T>A (n.946-211382T>A)
 dbSNP
6g.44230508T>CCA3831600POLR1C,SLC29A1c.589+27T>C (n.589+27T>C)
n.987+27T>C
c.532+27T>C (n.532+27T>C)
c.276+27T>C
n.778+27T>C
c.826+27T>C (n.826+27T>C)
c.715+27T>C (n.715+27T>C)
c.667+27T>C (n.667+27T>C)
c.664+27T>C (n.664+27T>C)
c.718+27T>C (n.718+27T>C)
c.829+27T>C (n.829+27T>C)
c.946-211382T>C (n.946-211382T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.44230508T=CA1624908316POLR1C,SLC29A1c.589+27T= (n.589+27T=)
n.987+27T=
c.532+27T= (n.532+27T=)
c.276+27T=
n.778+27T=
c.826+27T= (n.826+27T=)
c.715+27T= (n.715+27T=)
c.667+27T= (n.667+27T=)
c.664+27T= (n.664+27T=)
c.718+27T= (n.718+27T=)
c.829+27T= (n.829+27T=)
c.946-211382T= (n.946-211382T=)
6g.44230509G=CA1624908319POLR1C,SLC29A1c.589+28G= (n.589+28G=)
n.987+28G=
c.532+28G= (n.532+28G=)
c.276+28G=
n.778+28G=
c.826+28G= (n.826+28G=)
c.715+28G= (n.715+28G=)
c.667+28G= (n.667+28G=)
c.664+28G= (n.664+28G=)
c.718+28G= (n.718+28G=)
c.829+28G= (n.829+28G=)
c.946-211381G= (n.946-211381G=)
6g.44230509G>TCA3831601POLR1C,SLC29A1c.589+28G>T (n.589+28G>T)
n.987+28G>T
c.532+28G>T (n.532+28G>T)
c.276+28G>T
n.778+28G>T
c.826+28G>T (n.826+28G>T)
c.715+28G>T (n.715+28G>T)
c.667+28G>T (n.667+28G>T)
c.664+28G>T (n.664+28G>T)
c.718+28G>T (n.718+28G>T)
c.829+28G>T (n.829+28G>T)
c.946-211381G>T (n.946-211381G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44230510C=CA1624908320POLR1C,SLC29A1c.589+29C= (n.589+29C=)
n.987+29C=
c.532+29C= (n.532+29C=)
c.276+29C=
n.778+29C=
c.826+29C= (n.826+29C=)
c.715+29C= (n.715+29C=)
c.667+29C= (n.667+29C=)
c.664+29C= (n.664+29C=)
c.718+29C= (n.718+29C=)
c.829+29C= (n.829+29C=)
c.946-211380C= (n.946-211380C=)
6g.44230510C>TCA567154147POLR1C,SLC29A1c.589+29C>T (n.589+29C>T)
n.987+29C>T
c.532+29C>T (n.532+29C>T)
c.276+29C>T
n.778+29C>T
c.826+29C>T (n.826+29C>T)
c.715+29C>T (n.715+29C>T)
c.667+29C>T (n.667+29C>T)
c.664+29C>T (n.664+29C>T)
c.718+29C>T (n.718+29C>T)
c.829+29C>T (n.829+29C>T)
c.946-211380C>T (n.946-211380C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.44230511C>TCA2678935196POLR1C,SLC29A1c.589+30C>T (n.589+30C>T)
n.987+30C>T
c.532+30C>T (n.532+30C>T)
c.276+30C>T
n.778+30C>T
c.826+30C>T (n.826+30C>T)
c.715+30C>T (n.715+30C>T)
c.667+30C>T (n.667+30C>T)
c.664+30C>T (n.664+30C>T)
c.718+30C>T (n.718+30C>T)
c.829+30C>T (n.829+30C>T)
c.946-211379C>T (n.946-211379C>T)
 gnomAD v4
6g.44230512C=CA1624908322POLR1C,SLC29A1c.589+31C= (n.589+31C=)
n.987+31C=
c.532+31C= (n.532+31C=)
c.276+31C=
n.778+31C=
c.826+31C= (n.826+31C=)
c.715+31C= (n.715+31C=)
c.667+31C= (n.667+31C=)
c.664+31C= (n.664+31C=)
c.718+31C= (n.718+31C=)
c.829+31C= (n.829+31C=)
c.946-211378C= (n.946-211378C=)
6g.44230512C>TCA138375239POLR1C,SLC29A1c.589+31C>T (n.589+31C>T)
n.987+31C>T
c.532+31C>T (n.532+31C>T)
c.276+31C>T
n.778+31C>T
c.826+31C>T (n.826+31C>T)
c.715+31C>T (n.715+31C>T)
c.667+31C>T (n.667+31C>T)
c.664+31C>T (n.664+31C>T)
c.718+31C>T (n.718+31C>T)
c.829+31C>T (n.829+31C>T)
c.946-211378C>T (n.946-211378C>T)
 dbSNP gnomAD v4

Number of alleles fetched