Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.44230411G>A | CA3831586 | POLR1C,SLC29A1 | c.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 |
6 | g.44230411G>C | CA450308402 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230411G= | CA1624908220 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230411G>T | CA450308403 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230412G>A | CA364306149 | POLR1C,SLC29A1 | c.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 |
6 | g.44230412G>C | CA364306150 | POLR1C,SLC29A1 | c.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 |
6 | g.44230412G= | CA1624908222 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230412G>T | CA364306151 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230413C>A | CA364306152 | POLR1C,SLC29A1 | c.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 |
6 | g.44230413C>G | CA364306153 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230413C>T | CA364306154 | POLR1C,SLC29A1 | c.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 |
6 | g.44230414C>A | CA450308404 | POLR1C,SLC29A1 | c.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 |
6 | g.44230414C= | CA1624908225 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230414C>G | CA450308405 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230414C>T | CA450308406 | POLR1C,SLC29A1 | c.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 |
6 | g.44230415C>A | CA364306155 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230415C= | CA1624908227 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230415C>G | CA364306156 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230415C>T | CA3831587 | POLR1C,SLC29A1 | c.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 |
6 | g.44230416C>A | CA364306157 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230416C= | CA1624908229 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230416C>G | CA364306159 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230416C>T | CA364306158 | POLR1C,SLC29A1 | c.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 |
6 | g.44230417C>A | CA450308408 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230417C= | CA1624908232 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230417C>G | CA450308407 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230417C>T | CA3831588 | POLR1C,SLC29A1 | c.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 |
6 | g.44230418A= | CA1624908235 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230418A>C | CA364306160 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230418A>G | CA364306161 | POLR1C,SLC29A1 | c.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 |
6 | g.44230418A>T | CA364306162 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230419T>A | CA364306163 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230419T>C | CA364306164 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230419T>G | CA364306165 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230420C>A | CA450308409 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230420C= | CA1624908237 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230420C>G | CA364306166 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230420C>T | CA138375182 | POLR1C,SLC29A1 | c.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 |
6 | g.44230421A>C | CA364306169 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230421A>G | CA364306168 | POLR1C,SLC29A1 | c.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 |
6 | g.44230421A>T | CA364306167 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230422T>A | CA364306170 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230422T>C | CA364306171 | POLR1C,SLC29A1 | c.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 |
6 | g.44230422T>G | CA364306172 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230423G>A | CA364306173 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230423G>C | CA364306174 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230423G>T | CA364306175 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230424A>C | CA364306178 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230424A>G | CA364306176 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230424A>T | CA364306177 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230425G>A | CA364306179 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230425G>C | CA364306180 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230425G>T | CA364306181 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230426T>A | CA364306182 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230426T>C | CA450308410 | POLR1C,SLC29A1 | c.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 |
6 | g.44230426T>G | CA364306183 | POLR1C,SLC29A1 | c.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 |
6 | g.44230427G>A | CA364306184 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230427G>C | CA364306186 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230427G>T | CA364306185 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230428G>A | CA364306187 | POLR1C,SLC29A1 | c.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 |
6 | g.44230428G>C | CA364306188 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230428G>T | CA364306189 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230429C>A | CA450308411 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230429C>G | CA450308412 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230429C>T | CA450308413 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230430C>A | CA364306190 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230430C>G | CA364306191 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230430C>T | CA364306192 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230431A>C | CA364306193 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230431A>G | CA364306194 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230431A>T | CA364306195 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230432G>A | CA450308414 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230432G>C | CA364306196 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230432G>T | CA364306197 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230433G>A | CA364306199 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230433G>C | CA364306200 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230433G>T | CA364306198 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230434G>A | CA364306202 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230434G>C | CA364306201 | POLR1C,SLC29A1 | c.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 |
6 | g.44230434G= | CA1624908239 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230434G>T | CA364306203 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230435C>A | CA450308415 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230435C= | CA1624908242 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230435C>G | CA450308416 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230435C>T | CA138375184 | POLR1C,SLC29A1 | c.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 |
6 | g.44230436del | CA2678935186 | POLR1C,SLC29A1 | c.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 |
6 | g.44230436C>A | CA364306204 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230436C>G | CA364306205 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230436C>T | CA450308417 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230437T>A | CA364306206 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230437T>C | CA364306207 | POLR1C,SLC29A1 | c.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 |
6 | g.44230437T>G | CA364306208 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230438A>C | CA450308418 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230438A>G | CA450308420 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230438A>T | CA450308419 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230439G>A | CA364306209 | POLR1C,SLC29A1 | c.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 |
6 | g.44230439G>C | CA364306210 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230439G>T | CA364306211 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230440C>A | CA364306212 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230440C>G | CA364306213 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230440C>T | CA364306214 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230441A= | CA1624908244 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230441A>C | CA450308421 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230441A>G | CA450308422 | POLR1C,SLC29A1 | c.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 |
6 | g.44230441A>T | CA450308423 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230442G>A | CA364306217 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230442G>C | CA364306215 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230442G>T | CA364306216 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230443G>A | CA364306218 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230443G>C | CA364306219 | POLR1C,SLC29A1 | c.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 |
6 | g.44230443G>T | CA364306220 | POLR1C,SLC29A1 | c.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 |
6 | g.44230443_44230444insAAA | CA2770867112 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230444C>A | CA450308424 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230444C>G | CA450308425 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230444C>T | CA450308426 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230445T>A | CA364306221 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230445T>C | CA364306222 | POLR1C,SLC29A1 | c.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 |
6 | g.44230445T>G | CA364306223 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230446T>A | CA364306224 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230446T>C | CA364306225 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230446T>G | CA364306226 | POLR1C,SLC29A1 | c.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 |
6 | g.44230446T= | CA1624908245 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230447C>A | CA364306227 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230447C>G | CA364306228 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230447C>T | CA450308427 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230448T>A | CA364306231 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230448T>C | CA364306230 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230448T>G | CA364306229 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230449T>A | CA364306232 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230449T>C | CA364306233 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230449T>G | CA364306234 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230450T>A | CA364306235 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230450T>C | CA3831589 | POLR1C,SLC29A1 | c.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 |
6 | g.44230450T>G | CA364306236 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230450T= | CA1624908247 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230451G>A | CA364306237 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230451G>C | CA364306238 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230451G= | CA1624908250 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230451G>T | CA3831590 | POLR1C,SLC29A1 | c.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 |
6 | g.44230452C>A | CA364306239 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230452C>G | CA364306240 | POLR1C,SLC29A1 | c.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 |
6 | g.44230452C>T | CA364306241 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230453C>A | CA450308428 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230453C= | CA1624908253 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230453C>G | CA450308429 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230453C>T | CA450308430 | POLR1C,SLC29A1 | c.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 |
6 | g.44230454T>A | CA364306244 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230454T>C | CA364306243 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230454T>G | CA364306242 | POLR1C,SLC29A1 | c.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 |
6 | g.44230454T= | CA1624908256 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230455C>A | CA364306245 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230455C>G | CA364306246 | POLR1C,SLC29A1 | c.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 |
6 | g.44230455C>T | CA364306247 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230456del | CA2678935188 | POLR1C,SLC29A1 | c.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 |
6 | g.44230456C>A | CA450308431 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230456C= | CA1624908259 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230456C>G | CA450308432 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230456C>T | CA3831591 | POLR1C,SLC29A1 | c.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 |
6 | g.44230457G>A | CA3831592 | POLR1C,SLC29A1 | c.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 |
6 | g.44230457G>C | CA364306248 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230457G= | CA1624908261 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230457G>T | CA364306249 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230458T>A | CA364306250 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230458T>C | CA364306251 | POLR1C,SLC29A1 | c.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 |
6 | g.44230458T>G | CA364306252 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230458T= | CA1624908263 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230459G>A | CA450308433 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230459G>C | CA450308434 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230459G>T | CA450308435 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230460G>A | CA364306253 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230460G>C | CA364306254 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230460G>T | CA364306255 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230461C>A | CA364306257 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230461C>G | CA364306258 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230461C>T | CA364306256 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230462C>A | CA450308436 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230462C= | CA1624908265 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230462C>G | CA450308437 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230462C>T | CA450308438 | POLR1C,SLC29A1 | c.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 |
6 | g.44230463A= | CA1624908267 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230463A>C | CA364306259 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230463A>G | CA364306260 | POLR1C,SLC29A1 | c.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 |
6 | g.44230463A>T | CA364306261 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230464T>A | CA364306262 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230464T>C | CA364306263 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230464T>G | CA364306264 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230465G>A | CA364306265 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230465G>C | CA364306266 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230465G>T | CA364306267 | POLR1C,SLC29A1 | c.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 |
6 | g.44230466A>C | CA364306268 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230466A>G | CA364306269 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230466A>T | CA364306270 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230467T>A | CA364306271 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230467T>C | CA364306272 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230467T>G | CA364306273 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230468C>A | CA450308440 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230468C= | CA1624908270 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230468C>G | CA364306274 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230468C>T | CA450308441 | POLR1C,SLC29A1 | c.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 |
6 | g.44230469T>A | CA364306277 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230469T>C | CA364306275 | POLR1C,SLC29A1 | c.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 |
6 | g.44230469T>G | CA364306276 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230469T= | CA1624908272 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230470G>A | CA364306278 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230470G>C | CA364306279 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230470G>T | CA364306280 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230471C>A | CA364306282 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230471C= | CA1624908274 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230471C>G | CA364306281 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230471C>T | CA3831593 | POLR1C,SLC29A1 | c.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 |
6 | g.44230472G>A | CA3831594 | POLR1C,SLC29A1 | c.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 |
6 | g.44230472G>C | CA364306283 | POLR1C,SLC29A1 | c.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 |
6 | g.44230472G= | CA1624908278 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230472G>T | CA3831595 | POLR1C,SLC29A1 | c.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 |
6 | g.44230473C>A | CA364306284 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230473C>G | CA364306285 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230473C>T | CA364306286 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230474T>A | CA450308443 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230474T>C | CA450308444 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230474T>G | CA450308445 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230475A>C | CA364306287 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230475A>G | CA364306289 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230475A>T | CA364306288 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230476T>A | CA364306290 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230476T>C | CA364306291 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230476T>G | CA364306292 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230477T>A | CA450308448 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230477T>C | CA450308449 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230477T>G | CA364306293 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230478G>A | CA364306294 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230478G>C | CA364306295 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230478G>T | CA364306296 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230479C>A | CA364306297 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230479C= | CA1624908283 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230479C>G | CA364306298 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230479C>T | CA364306299 | POLR1C,SLC29A1 | c.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 |
6 | g.44230480C>A | CA450308453 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230480C= | CA1624908285 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230480C>G | CA450308454 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230480C>T | CA450308455 | POLR1C,SLC29A1 | c.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 |
6 | g.44230481A= | CA1624908287 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230481A>C | CA364306300 | POLR1C,SLC29A1 | c.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 |
6 | g.44230481A>G | CA364306301 | POLR1C,SLC29A1 | c.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 |
6 | g.44230481A>T | CA364306302 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230482G>A | CA364306305 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230482G>C | CA364306303 | POLR1C,SLC29A1 | c.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 |
6 | g.44230482G>T | CA364306304 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230484_44230569del | CA2678935189 | POLR1C,SLC29A1 | c.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 |
6 | g.44230483T>A | CA364306306 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230483T>C | CA364306307 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230483T>G | CA364306308 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230488C= | CA1624908290 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230488C>G | CA1088440510 | POLR1C,SLC29A1 | c.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 |
6 | g.44230488_44230489insTTT | CA2547999203 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230489C>A | CA2678935190 | POLR1C,SLC29A1 | c.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 |
6 | g.44230489C= | CA1624908293 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230489C>T | CA3831596 | POLR1C,SLC29A1 | c.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 |
6 | g.44230489_44230490insT | CA2521577823 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230490G>A | CA567154146 | POLR1C,SLC29A1 | c.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 |
6 | g.44230490G= | CA1624908295 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230491G>T | CA2536075641 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230492C>A | CA2678935191 | POLR1C,SLC29A1 | c.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 |
6 | g.44230492C= | CA1624908297 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230492C>T | CA1624908299 | POLR1C,SLC29A1 | c.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 |
6 | g.44230494A= | CA1624908304 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230494A>C | CA1088440517 | POLR1C,SLC29A1 | c.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 |
6 | g.44230494A>G | CA3831597 | POLR1C,SLC29A1 | c.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 |
6 | g.44230495T>C | CA2578632031 | POLR1C,SLC29A1 | c.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 |
6 | g.44230495T>G | CA138375219 | POLR1C,SLC29A1 | c.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 |
6 | g.44230495T= | CA1624908306 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230498A= | CA1624908308 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230498A>G | CA3831598 | POLR1C,SLC29A1 | c.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 |
6 | g.44230499C>A | CA2678935192 | POLR1C,SLC29A1 | c.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 |
6 | g.44230499C= | CA1624908312 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230499C>T | CA3831599 | POLR1C,SLC29A1 | c.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 |
6 | g.44230500C>T | CA2678935193 | POLR1C,SLC29A1 | c.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 |
6 | g.44230503C>T | CA2578632032 | POLR1C,SLC29A1 | c.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) | |
6 | g.44230505C>T | CA2678935194 | POLR1C,SLC29A1 | c.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 |
6 | g.44230506A>G | CA2596218490 | POLR1C,SLC29A1 | c.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 |
6 | g.44230507G>C | CA2678935195 | POLR1C,SLC29A1 | c.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 |
6 | g.44230508T>A | CA1624908317 | POLR1C,SLC29A1 | c.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 |
6 | g.44230508T>C | CA3831600 | POLR1C,SLC29A1 | c.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 |
6 | g.44230508T= | CA1624908316 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230509G= | CA1624908319 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230509G>T | CA3831601 | POLR1C,SLC29A1 | c.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 |
6 | g.44230510C= | CA1624908320 | POLR1C,SLC29A1 | c.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=) | |
6 | g.44230510C>T | CA567154147 | POLR1C,SLC29A1 | c.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 |
6 | g.44230511C>T | CA2678935196 | POLR1C,SLC29A1 | c.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 |