Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.44230347C>A | CA364306021 | POLR1C,SLC29A1 | c.455C>A (p.Ser152Ter) n.853C>A n.873C>A c.398C>A (p.Ser133Ter) c.162-20C>A n.644C>A c.692C>A (p.Ser231Ter) c.581C>A (p.Ser194Ter) c.533C>A (p.Ser178Ter) c.530C>A (p.Ser177Ter) c.584C>A (p.Ser195Ter) c.695C>A (p.Ser232Ter) c.946-211543C>A (n.946-211543C>A) | |
6 | g.44230347C>G | CA364306022 | POLR1C,SLC29A1 | c.455C>G (p.Ser152Ter) n.853C>G n.873C>G c.398C>G (p.Ser133Ter) c.162-20C>G n.644C>G c.692C>G (p.Ser231Ter) c.581C>G (p.Ser194Ter) c.533C>G (p.Ser178Ter) c.530C>G (p.Ser177Ter) c.584C>G (p.Ser195Ter) c.695C>G (p.Ser232Ter) c.946-211543C>G (n.946-211543C>G) | |
6 | g.44230347C>T | CA364306023 | POLR1C,SLC29A1 | c.455C>T (p.Ser152Leu) n.853C>T n.873C>T c.398C>T (p.Ser133Leu) c.162-20C>T n.644C>T c.692C>T (p.Ser231Leu) c.581C>T (p.Ser194Leu) c.533C>T (p.Ser178Leu) c.530C>T (p.Ser177Leu) c.584C>T (p.Ser195Leu) c.695C>T (p.Ser232Leu) c.946-211543C>T (n.946-211543C>T) | |
6 | g.44230348A>C | CA450308350 | POLR1C,SLC29A1 | c.456A>C (p.Ser152=) n.854A>C n.874A>C c.399A>C (p.Ser133=) c.162-19A>C n.645A>C c.693A>C (p.Ser231=) c.582A>C (p.Ser194=) c.534A>C (p.Ser178=) c.531A>C (p.Ser177=) c.585A>C (p.Ser195=) c.696A>C (p.Ser232=) c.946-211542A>C (n.946-211542A>C) | gnomAD v4 |
6 | g.44230348A>G | CA450308352 | POLR1C,SLC29A1 | c.456A>G (p.Ser152=) n.854A>G n.874A>G c.399A>G (p.Ser133=) c.162-19A>G n.645A>G c.693A>G (p.Ser231=) c.582A>G (p.Ser194=) c.534A>G (p.Ser178=) c.531A>G (p.Ser177=) c.585A>G (p.Ser195=) c.696A>G (p.Ser232=) c.946-211542A>G (n.946-211542A>G) | |
6 | g.44230348A>T | CA450308351 | POLR1C,SLC29A1 | c.456A>T (p.Ser152=) n.854A>T n.874A>T c.399A>T (p.Ser133=) c.162-19A>T n.645A>T c.693A>T (p.Ser231=) c.582A>T (p.Ser194=) c.534A>T (p.Ser178=) c.531A>T (p.Ser177=) c.585A>T (p.Ser195=) c.696A>T (p.Ser232=) c.946-211542A>T (n.946-211542A>T) | |
6 | g.44230349T>A | CA364306024 | POLR1C,SLC29A1 | c.457T>A (p.Phe153Ile) n.855T>A n.875T>A c.400T>A (p.Phe134Ile) c.162-18T>A n.646T>A c.694T>A (p.Phe232Ile) c.583T>A (p.Phe195Ile) c.535T>A (p.Phe179Ile) c.532T>A (p.Phe178Ile) c.586T>A (p.Phe196Ile) c.697T>A (p.Phe233Ile) c.946-211541T>A (n.946-211541T>A) | |
6 | g.44230349T>C | CA364306026 | POLR1C,SLC29A1 | c.457T>C (p.Phe153Leu) n.855T>C n.875T>C c.400T>C (p.Phe134Leu) c.162-18T>C n.646T>C c.694T>C (p.Phe232Leu) c.583T>C (p.Phe195Leu) c.535T>C (p.Phe179Leu) c.532T>C (p.Phe178Leu) c.586T>C (p.Phe196Leu) c.697T>C (p.Phe233Leu) c.946-211541T>C (n.946-211541T>C) | |
6 | g.44230349T>G | CA364306025 | POLR1C,SLC29A1 | c.457T>G (p.Phe153Val) n.855T>G n.875T>G c.400T>G (p.Phe134Val) c.162-18T>G n.646T>G c.694T>G (p.Phe232Val) c.583T>G (p.Phe195Val) c.535T>G (p.Phe179Val) c.532T>G (p.Phe178Val) c.586T>G (p.Phe196Val) c.697T>G (p.Phe233Val) c.946-211541T>G (n.946-211541T>G) | |
6 | g.44230351del | CA2678935183 | POLR1C,SLC29A1 | c.459del (p.Phe153LeufsTer25) n.857del n.877del c.402del (p.Phe134LeufsTer25) c.162-16del c.459del (p.Phe153LeufsTer?) n.648del c.696del (p.Phe232LeufsTer25) c.585del (p.Phe195LeufsTer25) c.537del (p.Phe179LeufsTer25) c.534del (p.Phe178LeufsTer25) c.588del (p.Phe196LeufsTer25) c.699del (p.Phe233LeufsTer25) c.946-211539del (n.946-211539del) | gnomAD v4 |
6 | g.44230350T>A | CA364306027 | POLR1C,SLC29A1 | c.458T>A (p.Phe153Tyr) n.856T>A n.876T>A c.401T>A (p.Phe134Tyr) c.162-17T>A n.647T>A c.695T>A (p.Phe232Tyr) c.584T>A (p.Phe195Tyr) c.536T>A (p.Phe179Tyr) c.533T>A (p.Phe178Tyr) c.587T>A (p.Phe196Tyr) c.698T>A (p.Phe233Tyr) c.946-211540T>A (n.946-211540T>A) | |
6 | g.44230350T>C | CA364306029 | POLR1C,SLC29A1 | c.458T>C (p.Phe153Ser) n.856T>C n.876T>C c.401T>C (p.Phe134Ser) c.162-17T>C n.647T>C c.695T>C (p.Phe232Ser) c.584T>C (p.Phe195Ser) c.536T>C (p.Phe179Ser) c.533T>C (p.Phe178Ser) c.587T>C (p.Phe196Ser) c.698T>C (p.Phe233Ser) c.946-211540T>C (n.946-211540T>C) | |
6 | g.44230350T>G | CA364306028 | POLR1C,SLC29A1 | c.458T>G (p.Phe153Cys) n.856T>G n.876T>G c.401T>G (p.Phe134Cys) c.162-17T>G n.647T>G c.695T>G (p.Phe232Cys) c.584T>G (p.Phe195Cys) c.536T>G (p.Phe179Cys) c.533T>G (p.Phe178Cys) c.587T>G (p.Phe196Cys) c.698T>G (p.Phe233Cys) c.946-211540T>G (n.946-211540T>G) | |
6 | g.44230351T>A | CA364306030 | POLR1C,SLC29A1 | c.459T>A (p.Phe153Leu) n.857T>A n.877T>A c.402T>A (p.Phe134Leu) c.162-16T>A n.648T>A c.696T>A (p.Phe232Leu) c.585T>A (p.Phe195Leu) c.537T>A (p.Phe179Leu) c.534T>A (p.Phe178Leu) c.588T>A (p.Phe196Leu) c.699T>A (p.Phe233Leu) c.946-211539T>A (n.946-211539T>A) | |
6 | g.44230351T>C | CA450308353 | POLR1C,SLC29A1 | c.459T>C (p.Phe153=) n.857T>C n.877T>C c.402T>C (p.Phe134=) c.162-16T>C n.648T>C c.696T>C (p.Phe232=) c.585T>C (p.Phe195=) c.537T>C (p.Phe179=) c.534T>C (p.Phe178=) c.588T>C (p.Phe196=) c.699T>C (p.Phe233=) c.946-211539T>C (n.946-211539T>C) | |
6 | g.44230351T>G | CA364306031 | POLR1C,SLC29A1 | c.459T>G (p.Phe153Leu) n.857T>G n.877T>G c.402T>G (p.Phe134Leu) c.162-16T>G n.648T>G c.696T>G (p.Phe232Leu) c.585T>G (p.Phe195Leu) c.537T>G (p.Phe179Leu) c.534T>G (p.Phe178Leu) c.588T>G (p.Phe196Leu) c.699T>G (p.Phe233Leu) c.946-211539T>G (n.946-211539T>G) | |
6 | g.44230352G>A | CA364306032 | POLR1C,SLC29A1 | c.460G>A (p.Gly154Ser) n.858G>A n.878G>A c.403G>A (p.Gly135Ser) c.162-15G>A n.649G>A c.697G>A (p.Gly233Ser) c.586G>A (p.Gly196Ser) c.538G>A (p.Gly180Ser) c.535G>A (p.Gly179Ser) c.589G>A (p.Gly197Ser) c.700G>A (p.Gly234Ser) c.946-211538G>A (n.946-211538G>A) | |
6 | g.44230352G>C | CA364306033 | POLR1C,SLC29A1 | c.460G>C (p.Gly154Arg) n.858G>C n.878G>C c.403G>C (p.Gly135Arg) c.162-15G>C n.649G>C c.697G>C (p.Gly233Arg) c.586G>C (p.Gly196Arg) c.538G>C (p.Gly180Arg) c.535G>C (p.Gly179Arg) c.589G>C (p.Gly197Arg) c.700G>C (p.Gly234Arg) c.946-211538G>C (n.946-211538G>C) | |
6 | g.44230352G>T | CA364306034 | POLR1C,SLC29A1 | c.460G>T (p.Gly154Cys) n.858G>T n.878G>T c.403G>T (p.Gly135Cys) c.162-15G>T n.649G>T c.697G>T (p.Gly233Cys) c.586G>T (p.Gly196Cys) c.538G>T (p.Gly180Cys) c.535G>T (p.Gly179Cys) c.589G>T (p.Gly197Cys) c.700G>T (p.Gly234Cys) c.946-211538G>T (n.946-211538G>T) | |
6 | g.44230353G>A | CA3831577 | POLR1C,SLC29A1 | c.461G>A (p.Gly154Asp) n.859G>A n.879G>A c.404G>A (p.Gly135Asp) c.162-14G>A n.650G>A c.698G>A (p.Gly233Asp) c.587G>A (p.Gly196Asp) c.539G>A (p.Gly180Asp) c.536G>A (p.Gly179Asp) c.590G>A (p.Gly197Asp) c.701G>A (p.Gly234Asp) c.946-211537G>A (n.946-211537G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44230353G>C | CA364306035 | POLR1C,SLC29A1 | c.461G>C (p.Gly154Ala) n.859G>C n.879G>C c.404G>C (p.Gly135Ala) c.162-14G>C n.650G>C c.698G>C (p.Gly233Ala) c.587G>C (p.Gly196Ala) c.539G>C (p.Gly180Ala) c.536G>C (p.Gly179Ala) c.590G>C (p.Gly197Ala) c.701G>C (p.Gly234Ala) c.946-211537G>C (n.946-211537G>C) | |
6 | g.44230353G= | CA1624908164 | POLR1C,SLC29A1 | c.461G= (p.Gly154=) n.859G= n.879G= c.404G= (p.Gly135=) c.162-14G= n.650G= c.698G= (p.Gly233=) c.587G= (p.Gly196=) c.539G= (p.Gly180=) c.536G= (p.Gly179=) c.590G= (p.Gly197=) c.701G= (p.Gly234=) c.946-211537G= (n.946-211537G=) | |
6 | g.44230353G>T | CA364306036 | POLR1C,SLC29A1 | c.461G>T (p.Gly154Val) n.859G>T n.879G>T c.404G>T (p.Gly135Val) c.162-14G>T n.650G>T c.698G>T (p.Gly233Val) c.587G>T (p.Gly196Val) c.539G>T (p.Gly180Val) c.536G>T (p.Gly179Val) c.590G>T (p.Gly197Val) c.701G>T (p.Gly234Val) c.946-211537G>T (n.946-211537G>T) | gnomAD v4 |
6 | g.44230354T>A | CA450308354 | POLR1C,SLC29A1 | c.462T>A (p.Gly154=) n.860T>A n.880T>A c.405T>A (p.Gly135=) c.162-13T>A n.651T>A c.699T>A (p.Gly233=) c.588T>A (p.Gly196=) c.540T>A (p.Gly180=) c.537T>A (p.Gly179=) c.591T>A (p.Gly197=) c.702T>A (p.Gly234=) c.946-211536T>A (n.946-211536T>A) | |
6 | g.44230354T>C | CA450308355 | POLR1C,SLC29A1 | c.462T>C (p.Gly154=) n.860T>C n.880T>C c.405T>C (p.Gly135=) c.162-13T>C n.651T>C c.699T>C (p.Gly233=) c.588T>C (p.Gly196=) c.540T>C (p.Gly180=) c.537T>C (p.Gly179=) c.591T>C (p.Gly197=) c.702T>C (p.Gly234=) c.946-211536T>C (n.946-211536T>C) | gnomAD v4 |
6 | g.44230354T>G | CA450308356 | POLR1C,SLC29A1 | c.462T>G (p.Gly154=) n.860T>G n.880T>G c.405T>G (p.Gly135=) c.162-13T>G n.651T>G c.699T>G (p.Gly233=) c.588T>G (p.Gly196=) c.540T>G (p.Gly180=) c.537T>G (p.Gly179=) c.591T>G (p.Gly197=) c.702T>G (p.Gly234=) c.946-211536T>G (n.946-211536T>G) | gnomAD v4 |
6 | g.44230355G>A | CA364306037 | POLR1C,SLC29A1 | c.463G>A (p.Ala155Thr) n.861G>A n.881G>A c.406G>A (p.Ala136Thr) c.162-12G>A n.652G>A c.700G>A (p.Ala234Thr) c.589G>A (p.Ala197Thr) c.541G>A (p.Ala181Thr) c.538G>A (p.Ala180Thr) c.592G>A (p.Ala198Thr) c.703G>A (p.Ala235Thr) c.946-211535G>A (n.946-211535G>A) | gnomAD v4 |
6 | g.44230355G>C | CA364306038 | POLR1C,SLC29A1 | c.463G>C (p.Ala155Pro) n.861G>C n.881G>C c.406G>C (p.Ala136Pro) c.162-12G>C n.652G>C c.700G>C (p.Ala234Pro) c.589G>C (p.Ala197Pro) c.541G>C (p.Ala181Pro) c.538G>C (p.Ala180Pro) c.592G>C (p.Ala198Pro) c.703G>C (p.Ala235Pro) c.946-211535G>C (n.946-211535G>C) | |
6 | g.44230355G>T | CA364306039 | POLR1C,SLC29A1 | c.463G>T (p.Ala155Ser) n.861G>T n.881G>T c.406G>T (p.Ala136Ser) c.162-12G>T n.652G>T c.700G>T (p.Ala234Ser) c.589G>T (p.Ala197Ser) c.541G>T (p.Ala181Ser) c.538G>T (p.Ala180Ser) c.592G>T (p.Ala198Ser) c.703G>T (p.Ala235Ser) c.946-211535G>T (n.946-211535G>T) | |
6 | g.44230356C>A | CA364306042 | POLR1C,SLC29A1 | c.464C>A (p.Ala155Asp) n.862C>A n.882C>A c.407C>A (p.Ala136Asp) c.162-11C>A n.653C>A c.701C>A (p.Ala234Asp) c.590C>A (p.Ala197Asp) c.542C>A (p.Ala181Asp) c.539C>A (p.Ala180Asp) c.593C>A (p.Ala198Asp) c.704C>A (p.Ala235Asp) c.946-211534C>A (n.946-211534C>A) | gnomAD v4 |
6 | g.44230356C>G | CA364306041 | POLR1C,SLC29A1 | c.464C>G (p.Ala155Gly) n.862C>G n.882C>G c.407C>G (p.Ala136Gly) c.162-11C>G n.653C>G c.701C>G (p.Ala234Gly) c.590C>G (p.Ala197Gly) c.542C>G (p.Ala181Gly) c.539C>G (p.Ala180Gly) c.593C>G (p.Ala198Gly) c.704C>G (p.Ala235Gly) c.946-211534C>G (n.946-211534C>G) | |
6 | g.44230356C>T | CA364306040 | POLR1C,SLC29A1 | c.464C>T (p.Ala155Val) n.862C>T n.882C>T c.407C>T (p.Ala136Val) c.162-11C>T n.653C>T c.701C>T (p.Ala234Val) c.590C>T (p.Ala197Val) c.542C>T (p.Ala181Val) c.539C>T (p.Ala180Val) c.593C>T (p.Ala198Val) c.704C>T (p.Ala235Val) c.946-211534C>T (n.946-211534C>T) | gnomAD v4 |
6 | g.44230357C>A | CA450308357 | POLR1C,SLC29A1 | c.465C>A (p.Ala155=) n.863C>A n.883C>A c.408C>A (p.Ala136=) c.162-10C>A n.654C>A c.702C>A (p.Ala234=) c.591C>A (p.Ala197=) c.543C>A (p.Ala181=) c.540C>A (p.Ala180=) c.594C>A (p.Ala198=) c.705C>A (p.Ala235=) c.946-211533C>A (n.946-211533C>A) | |
6 | g.44230357C>G | CA450308358 | POLR1C,SLC29A1 | c.465C>G (p.Ala155=) n.863C>G n.883C>G c.408C>G (p.Ala136=) c.162-10C>G n.654C>G c.702C>G (p.Ala234=) c.591C>G (p.Ala197=) c.543C>G (p.Ala181=) c.540C>G (p.Ala180=) c.594C>G (p.Ala198=) c.705C>G (p.Ala235=) c.946-211533C>G (n.946-211533C>G) | |
6 | g.44230357C>T | CA450308359 | POLR1C,SLC29A1 | c.465C>T (p.Ala155=) n.863C>T n.883C>T c.408C>T (p.Ala136=) c.162-10C>T n.654C>T c.702C>T (p.Ala234=) c.591C>T (p.Ala197=) c.543C>T (p.Ala181=) c.540C>T (p.Ala180=) c.594C>T (p.Ala198=) c.705C>T (p.Ala235=) c.946-211533C>T (n.946-211533C>T) | gnomAD v4 |
6 | g.44230358A= | CA1624908168 | POLR1C,SLC29A1 | c.466A= (p.Ile156=) n.864A= n.884A= c.409A= (p.Ile137=) c.162-9A= n.655A= c.703A= (p.Ile235=) c.592A= (p.Ile198=) c.544A= (p.Ile182=) c.541A= (p.Ile181=) c.595A= (p.Ile199=) c.706A= (p.Ile236=) c.946-211532A= (n.946-211532A=) | |
6 | g.44230358A>C | CA364306043 | POLR1C,SLC29A1 | c.466A>C (p.Ile156Leu) n.864A>C n.884A>C c.409A>C (p.Ile137Leu) c.162-9A>C n.655A>C c.703A>C (p.Ile235Leu) c.592A>C (p.Ile198Leu) c.544A>C (p.Ile182Leu) c.541A>C (p.Ile181Leu) c.595A>C (p.Ile199Leu) c.706A>C (p.Ile236Leu) c.946-211532A>C (n.946-211532A>C) | |
6 | g.44230358A>G | CA138375132 | POLR1C,SLC29A1 | c.466A>G (p.Ile156Val) n.864A>G n.884A>G c.409A>G (p.Ile137Val) c.162-9A>G n.655A>G c.703A>G (p.Ile235Val) c.592A>G (p.Ile198Val) c.544A>G (p.Ile182Val) c.541A>G (p.Ile181Val) c.595A>G (p.Ile199Val) c.706A>G (p.Ile236Val) c.946-211532A>G (n.946-211532A>G) | dbSNP |
6 | g.44230358A>T | CA364306044 | POLR1C,SLC29A1 | c.466A>T (p.Ile156Phe) n.864A>T n.884A>T c.409A>T (p.Ile137Phe) c.162-9A>T n.655A>T c.703A>T (p.Ile235Phe) c.592A>T (p.Ile198Phe) c.544A>T (p.Ile182Phe) c.541A>T (p.Ile181Phe) c.595A>T (p.Ile199Phe) c.706A>T (p.Ile236Phe) c.946-211532A>T (n.946-211532A>T) | |
6 | g.44230359T>A | CA364306045 | POLR1C,SLC29A1 | c.467T>A (p.Ile156Asn) n.865T>A n.885T>A c.410T>A (p.Ile137Asn) c.162-8T>A n.656T>A c.704T>A (p.Ile235Asn) c.593T>A (p.Ile198Asn) c.545T>A (p.Ile182Asn) c.542T>A (p.Ile181Asn) c.596T>A (p.Ile199Asn) c.707T>A (p.Ile236Asn) c.946-211531T>A (n.946-211531T>A) | |
6 | g.44230359T>C | CA364306046 | POLR1C,SLC29A1 | c.467T>C (p.Ile156Thr) n.865T>C n.885T>C c.410T>C (p.Ile137Thr) c.162-8T>C n.656T>C c.704T>C (p.Ile235Thr) c.593T>C (p.Ile198Thr) c.545T>C (p.Ile182Thr) c.542T>C (p.Ile181Thr) c.596T>C (p.Ile199Thr) c.707T>C (p.Ile236Thr) c.946-211531T>C (n.946-211531T>C) | |
6 | g.44230359T>G | CA364306047 | POLR1C,SLC29A1 | c.467T>G (p.Ile156Ser) n.865T>G n.885T>G c.410T>G (p.Ile137Ser) c.162-8T>G n.656T>G c.704T>G (p.Ile235Ser) c.593T>G (p.Ile198Ser) c.545T>G (p.Ile182Ser) c.542T>G (p.Ile181Ser) c.596T>G (p.Ile199Ser) c.707T>G (p.Ile236Ser) c.946-211531T>G (n.946-211531T>G) | |
6 | g.44230360C>A | CA450308360 | POLR1C,SLC29A1 | c.468C>A (p.Ile156=) n.866C>A n.886C>A c.411C>A (p.Ile137=) c.162-7C>A n.657C>A c.705C>A (p.Ile235=) c.594C>A (p.Ile198=) c.546C>A (p.Ile182=) c.543C>A (p.Ile181=) c.597C>A (p.Ile199=) c.708C>A (p.Ile236=) c.946-211530C>A (n.946-211530C>A) | gnomAD v4 |
6 | g.44230360C>G | CA364306048 | POLR1C,SLC29A1 | c.468C>G (p.Ile156Met) n.866C>G n.886C>G c.411C>G (p.Ile137Met) c.162-7C>G n.657C>G c.705C>G (p.Ile235Met) c.594C>G (p.Ile198Met) c.546C>G (p.Ile182Met) c.543C>G (p.Ile181Met) c.597C>G (p.Ile199Met) c.708C>G (p.Ile236Met) c.946-211530C>G (n.946-211530C>G) | |
6 | g.44230360C>T | CA450308361 | POLR1C,SLC29A1 | c.468C>T (p.Ile156=) n.866C>T n.886C>T c.411C>T (p.Ile137=) c.162-7C>T n.657C>T c.705C>T (p.Ile235=) c.594C>T (p.Ile198=) c.546C>T (p.Ile182=) c.543C>T (p.Ile181=) c.597C>T (p.Ile199=) c.708C>T (p.Ile236=) c.946-211530C>T (n.946-211530C>T) | |
6 | g.44230361C>A | CA364306049 | POLR1C,SLC29A1 | c.469C>A (p.Leu157Met) n.867C>A n.887C>A c.412C>A (p.Leu138Met) c.162-6C>A n.658C>A c.706C>A (p.Leu236Met) c.595C>A (p.Leu199Met) c.547C>A (p.Leu183Met) c.544C>A (p.Leu182Met) c.598C>A (p.Leu200Met) c.709C>A (p.Leu237Met) c.946-211529C>A (n.946-211529C>A) | |
6 | g.44230361C>G | CA364306050 | POLR1C,SLC29A1 | c.469C>G (p.Leu157Val) n.867C>G n.887C>G c.412C>G (p.Leu138Val) c.162-6C>G n.658C>G c.706C>G (p.Leu236Val) c.595C>G (p.Leu199Val) c.547C>G (p.Leu183Val) c.544C>G (p.Leu182Val) c.598C>G (p.Leu200Val) c.709C>G (p.Leu237Val) c.946-211529C>G (n.946-211529C>G) | |
6 | g.44230361C>T | CA450308362 | POLR1C,SLC29A1 | c.469C>T (p.Leu157=) n.867C>T n.887C>T c.412C>T (p.Leu138=) c.162-6C>T n.658C>T c.706C>T (p.Leu236=) c.595C>T (p.Leu199=) c.547C>T (p.Leu183=) c.544C>T (p.Leu182=) c.598C>T (p.Leu200=) c.709C>T (p.Leu237=) c.946-211529C>T (n.946-211529C>T) | gnomAD v4 |
6 | g.44230362T>A | CA364306051 | POLR1C,SLC29A1 | c.470T>A (p.Leu157Gln) n.868T>A n.888T>A c.413T>A (p.Leu138Gln) c.162-5T>A n.659T>A c.707T>A (p.Leu236Gln) c.596T>A (p.Leu199Gln) c.548T>A (p.Leu183Gln) c.545T>A (p.Leu182Gln) c.599T>A (p.Leu200Gln) c.710T>A (p.Leu237Gln) c.946-211528T>A (n.946-211528T>A) | |
6 | g.44230362T>C | CA364306052 | POLR1C,SLC29A1 | c.470T>C (p.Leu157Pro) n.868T>C n.888T>C c.413T>C (p.Leu138Pro) c.162-5T>C n.659T>C c.707T>C (p.Leu236Pro) c.596T>C (p.Leu199Pro) c.548T>C (p.Leu183Pro) c.545T>C (p.Leu182Pro) c.599T>C (p.Leu200Pro) c.710T>C (p.Leu237Pro) c.946-211528T>C (n.946-211528T>C) | gnomAD v4 |
6 | g.44230362T>G | CA364306053 | POLR1C,SLC29A1 | c.470T>G (p.Leu157Arg) n.868T>G n.888T>G c.413T>G (p.Leu138Arg) c.162-5T>G n.659T>G c.707T>G (p.Leu236Arg) c.596T>G (p.Leu199Arg) c.548T>G (p.Leu183Arg) c.545T>G (p.Leu182Arg) c.599T>G (p.Leu200Arg) c.710T>G (p.Leu237Arg) c.946-211528T>G (n.946-211528T>G) | |
6 | g.44230363G>A | CA450308365 | POLR1C,SLC29A1 | c.471G>A (p.Leu157=) n.869G>A n.889G>A c.414G>A (p.Leu138=) c.162-4G>A n.660G>A c.708G>A (p.Leu236=) c.597G>A (p.Leu199=) c.549G>A (p.Leu183=) c.546G>A (p.Leu182=) c.600G>A (p.Leu200=) c.711G>A (p.Leu237=) c.946-211527G>A (n.946-211527G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44230363G>C | CA450308363 | POLR1C,SLC29A1 | c.471G>C (p.Leu157=) n.869G>C n.889G>C c.414G>C (p.Leu138=) c.162-4G>C n.660G>C c.708G>C (p.Leu236=) c.597G>C (p.Leu199=) c.549G>C (p.Leu183=) c.546G>C (p.Leu182=) c.600G>C (p.Leu200=) c.711G>C (p.Leu237=) c.946-211527G>C (n.946-211527G>C) | |
6 | g.44230363G= | CA1624908174 | POLR1C,SLC29A1 | c.471G= (p.Leu157=) n.869G= n.889G= c.414G= (p.Leu138=) c.162-4G= n.660G= c.708G= (p.Leu236=) c.597G= (p.Leu199=) c.549G= (p.Leu183=) c.546G= (p.Leu182=) c.600G= (p.Leu200=) c.711G= (p.Leu237=) c.946-211527G= (n.946-211527G=) | |
6 | g.44230363G>T | CA450308364 | POLR1C,SLC29A1 | c.471G>T (p.Leu157=) n.869G>T n.889G>T c.414G>T (p.Leu138=) c.162-4G>T n.660G>T c.708G>T (p.Leu236=) c.597G>T (p.Leu199=) c.549G>T (p.Leu183=) c.546G>T (p.Leu182=) c.600G>T (p.Leu200=) c.711G>T (p.Leu237=) c.946-211527G>T (n.946-211527G>T) | dbSNP gnomAD v4 |
6 | g.44230364C>A | CA364306055 | POLR1C,SLC29A1 | c.472C>A (p.Gln158Lys) n.870C>A n.890C>A c.415C>A (p.Gln139Lys) c.162-3C>A n.661C>A c.709C>A (p.Gln237Lys) c.598C>A (p.Gln200Lys) c.550C>A (p.Gln184Lys) c.547C>A (p.Gln183Lys) c.601C>A (p.Gln201Lys) c.712C>A (p.Gln238Lys) c.946-211526C>A (n.946-211526C>A) | |
6 | g.44230364C= | CA1624908177 | POLR1C,SLC29A1 | c.472C= (p.Gln158=) n.870C= n.890C= c.415C= (p.Gln139=) c.162-3C= n.661C= c.709C= (p.Gln237=) c.598C= (p.Gln200=) c.550C= (p.Gln184=) c.547C= (p.Gln183=) c.601C= (p.Gln201=) c.712C= (p.Gln238=) c.946-211526C= (n.946-211526C=) | |
6 | g.44230364C>G | CA364306054 | POLR1C,SLC29A1 | c.472C>G (p.Gln158Glu) n.870C>G n.890C>G c.415C>G (p.Gln139Glu) c.162-3C>G n.661C>G c.709C>G (p.Gln237Glu) c.598C>G (p.Gln200Glu) c.550C>G (p.Gln184Glu) c.547C>G (p.Gln183Glu) c.601C>G (p.Gln201Glu) c.712C>G (p.Gln238Glu) c.946-211526C>G (n.946-211526C>G) | |
6 | g.44230364C>T | CA3831578 | POLR1C,SLC29A1 | c.472C>T (p.Gln158Ter) n.870C>T n.890C>T c.415C>T (p.Gln139Ter) c.162-3C>T n.661C>T c.709C>T (p.Gln237Ter) c.598C>T (p.Gln200Ter) c.550C>T (p.Gln184Ter) c.547C>T (p.Gln183Ter) c.601C>T (p.Gln201Ter) c.712C>T (p.Gln238Ter) c.946-211526C>T (n.946-211526C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.44230365A= | CA1624908181 | POLR1C,SLC29A1 | c.473A= (p.Gln158=) n.871A= n.891A= c.416A= (p.Gln139=) c.162-2A= n.662A= c.710A= (p.Gln237=) c.599A= (p.Gln200=) c.551A= (p.Gln184=) c.548A= (p.Gln183=) c.602A= (p.Gln201=) c.713A= (p.Gln238=) c.946-211525A= (n.946-211525A=) | |
6 | g.44230365A>C | CA364306056 | POLR1C,SLC29A1 | c.473A>C (p.Gln158Pro) n.871A>C n.891A>C c.416A>C (p.Gln139Pro) c.162-2A>C n.662A>C c.710A>C (p.Gln237Pro) c.599A>C (p.Gln200Pro) c.551A>C (p.Gln184Pro) c.548A>C (p.Gln183Pro) c.602A>C (p.Gln201Pro) c.713A>C (p.Gln238Pro) c.946-211525A>C (n.946-211525A>C) | |
6 | g.44230365A>G | CA364306057 | POLR1C,SLC29A1 | c.473A>G (p.Gln158Arg) n.871A>G n.891A>G c.416A>G (p.Gln139Arg) c.162-2A>G n.662A>G c.710A>G (p.Gln237Arg) c.599A>G (p.Gln200Arg) c.551A>G (p.Gln184Arg) c.548A>G (p.Gln183Arg) c.602A>G (p.Gln201Arg) c.713A>G (p.Gln238Arg) c.946-211525A>G (n.946-211525A>G) | |
6 | g.44230365A>T | CA3831579 | POLR1C,SLC29A1 | c.473A>T (p.Gln158Leu) n.871A>T n.891A>T c.416A>T (p.Gln139Leu) c.162-2A>T n.662A>T c.710A>T (p.Gln237Leu) c.599A>T (p.Gln200Leu) c.551A>T (p.Gln184Leu) c.548A>T (p.Gln183Leu) c.602A>T (p.Gln201Leu) c.713A>T (p.Gln238Leu) c.946-211525A>T (n.946-211525A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44230366G>A | CA450308366 | POLR1C,SLC29A1 | c.474G>A (p.Gln158=) n.872G>A n.892G>A c.417G>A (p.Gln139=) c.162-1G>A n.663G>A c.711G>A (p.Gln237=) c.600G>A (p.Gln200=) c.552G>A (p.Gln184=) c.549G>A (p.Gln183=) c.603G>A (p.Gln201=) c.714G>A (p.Gln238=) c.946-211524G>A (n.946-211524G>A) | dbSNP gnomAD v4 |
6 | g.44230366G>C | CA364306058 | POLR1C,SLC29A1 | c.474G>C (p.Gln158His) n.872G>C n.892G>C c.417G>C (p.Gln139His) c.162-1G>C n.663G>C c.711G>C (p.Gln237His) c.600G>C (p.Gln200His) c.552G>C (p.Gln184His) c.549G>C (p.Gln183His) c.603G>C (p.Gln201His) c.714G>C (p.Gln238His) c.946-211524G>C (n.946-211524G>C) | |
6 | g.44230366G= | CA1624908183 | POLR1C,SLC29A1 | c.474G= (p.Gln158=) n.872G= n.892G= c.417G= (p.Gln139=) c.162-1G= n.663G= c.711G= (p.Gln237=) c.600G= (p.Gln200=) c.552G= (p.Gln184=) c.549G= (p.Gln183=) c.603G= (p.Gln201=) c.714G= (p.Gln238=) c.946-211524G= (n.946-211524G=) | |
6 | g.44230366G>T | CA364306059 | POLR1C,SLC29A1 | c.474G>T (p.Gln158His) n.872G>T n.892G>T c.417G>T (p.Gln139His) c.162-1G>T n.663G>T c.711G>T (p.Gln237His) c.600G>T (p.Gln200His) c.552G>T (p.Gln184His) c.549G>T (p.Gln183His) c.603G>T (p.Gln201His) c.714G>T (p.Gln238His) c.946-211524G>T (n.946-211524G>T) | |
6 | g.44230367G>A | CA3831580 | POLR1C,SLC29A1 | c.475G>A (p.Gly159Ser) n.873G>A n.893G>A c.418G>A (p.Gly140Ser) c.162G>A n.664G>A c.712G>A (p.Gly238Ser) c.601G>A (p.Gly201Ser) c.553G>A (p.Gly185Ser) c.550G>A (p.Gly184Ser) c.604G>A (p.Gly202Ser) c.715G>A (p.Gly239Ser) c.946-211523G>A (n.946-211523G>A) | dbSNP ExAC |
6 | g.44230367G>C | CA364306061 | POLR1C,SLC29A1 | c.475G>C (p.Gly159Arg) n.873G>C n.893G>C c.418G>C (p.Gly140Arg) c.162G>C n.664G>C c.712G>C (p.Gly238Arg) c.601G>C (p.Gly201Arg) c.553G>C (p.Gly185Arg) c.550G>C (p.Gly184Arg) c.604G>C (p.Gly202Arg) c.715G>C (p.Gly239Arg) c.946-211523G>C (n.946-211523G>C) | gnomAD v4 |
6 | g.44230367G= | CA1624908186 | POLR1C,SLC29A1 | c.475G= (p.Gly159=) n.873G= n.893G= c.418G= (p.Gly140=) c.162G= n.664G= c.712G= (p.Gly238=) c.601G= (p.Gly201=) c.553G= (p.Gly185=) c.550G= (p.Gly184=) c.604G= (p.Gly202=) c.715G= (p.Gly239=) c.946-211523G= (n.946-211523G=) | |
6 | g.44230367G>T | CA364306060 | POLR1C,SLC29A1 | c.475G>T (p.Gly159Cys) n.873G>T n.893G>T c.418G>T (p.Gly140Cys) c.162G>T n.664G>T c.712G>T (p.Gly238Cys) c.601G>T (p.Gly201Cys) c.553G>T (p.Gly185Cys) c.550G>T (p.Gly184Cys) c.604G>T (p.Gly202Cys) c.715G>T (p.Gly239Cys) c.946-211523G>T (n.946-211523G>T) | |
6 | g.44230368G>A | CA364306062 | POLR1C,SLC29A1 | c.476G>A (p.Gly159Asp) n.874G>A n.894G>A c.419G>A (p.Gly140Asp) c.163G>A n.665G>A c.713G>A (p.Gly238Asp) c.602G>A (p.Gly201Asp) c.554G>A (p.Gly185Asp) c.551G>A (p.Gly184Asp) c.605G>A (p.Gly202Asp) c.716G>A (p.Gly239Asp) c.946-211522G>A (n.946-211522G>A) | gnomAD v4 |
6 | g.44230368G>C | CA364306063 | POLR1C,SLC29A1 | c.476G>C (p.Gly159Ala) n.874G>C n.894G>C c.419G>C (p.Gly140Ala) c.163G>C n.665G>C c.713G>C (p.Gly238Ala) c.602G>C (p.Gly201Ala) c.554G>C (p.Gly185Ala) c.551G>C (p.Gly184Ala) c.605G>C (p.Gly202Ala) c.716G>C (p.Gly239Ala) c.946-211522G>C (n.946-211522G>C) | |
6 | g.44230368G>T | CA364306064 | POLR1C,SLC29A1 | c.476G>T (p.Gly159Val) n.874G>T n.894G>T c.419G>T (p.Gly140Val) c.163G>T n.665G>T c.713G>T (p.Gly238Val) c.602G>T (p.Gly201Val) c.554G>T (p.Gly185Val) c.551G>T (p.Gly184Val) c.605G>T (p.Gly202Val) c.716G>T (p.Gly239Val) c.946-211522G>T (n.946-211522G>T) | |
6 | g.44230369C>A | CA450308369 | POLR1C,SLC29A1 | c.477C>A (p.Gly159=) n.875C>A n.895C>A c.420C>A (p.Gly140=) c.164C>A n.666C>A c.714C>A (p.Gly238=) c.603C>A (p.Gly201=) c.555C>A (p.Gly185=) c.552C>A (p.Gly184=) c.606C>A (p.Gly202=) c.717C>A (p.Gly239=) c.946-211521C>A (n.946-211521C>A) | |
6 | g.44230369C>G | CA450308367 | POLR1C,SLC29A1 | c.477C>G (p.Gly159=) n.875C>G n.895C>G c.420C>G (p.Gly140=) c.164C>G n.666C>G c.714C>G (p.Gly238=) c.603C>G (p.Gly201=) c.555C>G (p.Gly185=) c.552C>G (p.Gly184=) c.606C>G (p.Gly202=) c.717C>G (p.Gly239=) c.946-211521C>G (n.946-211521C>G) | |
6 | g.44230369C>T | CA450308368 | POLR1C,SLC29A1 | c.477C>T (p.Gly159=) n.875C>T n.895C>T c.420C>T (p.Gly140=) c.164C>T n.666C>T c.714C>T (p.Gly238=) c.603C>T (p.Gly201=) c.555C>T (p.Gly185=) c.552C>T (p.Gly184=) c.606C>T (p.Gly202=) c.717C>T (p.Gly239=) c.946-211521C>T (n.946-211521C>T) | |
6 | g.44230370A>C | CA364306065 | POLR1C,SLC29A1 | c.478A>C (p.Ser160Arg) n.876A>C n.896A>C c.421A>C (p.Ser141Arg) c.165A>C n.667A>C c.715A>C (p.Ser239Arg) c.604A>C (p.Ser202Arg) c.556A>C (p.Ser186Arg) c.553A>C (p.Ser185Arg) c.607A>C (p.Ser203Arg) c.718A>C (p.Ser240Arg) c.946-211520A>C (n.946-211520A>C) | |
6 | g.44230370A>G | CA364306066 | POLR1C,SLC29A1 | c.478A>G (p.Ser160Gly) n.876A>G n.896A>G c.421A>G (p.Ser141Gly) c.165A>G n.667A>G c.715A>G (p.Ser239Gly) c.604A>G (p.Ser202Gly) c.556A>G (p.Ser186Gly) c.553A>G (p.Ser185Gly) c.607A>G (p.Ser203Gly) c.718A>G (p.Ser240Gly) c.946-211520A>G (n.946-211520A>G) | |
6 | g.44230370A>T | CA364306067 | POLR1C,SLC29A1 | c.478A>T (p.Ser160Cys) n.876A>T n.896A>T c.421A>T (p.Ser141Cys) c.165A>T n.667A>T c.715A>T (p.Ser239Cys) c.604A>T (p.Ser202Cys) c.556A>T (p.Ser186Cys) c.553A>T (p.Ser185Cys) c.607A>T (p.Ser203Cys) c.718A>T (p.Ser240Cys) c.946-211520A>T (n.946-211520A>T) | |
6 | g.44230371G>A | CA364306068 | POLR1C,SLC29A1 | c.479G>A (p.Ser160Asn) n.877G>A n.897G>A c.422G>A (p.Ser141Asn) c.166G>A n.668G>A c.716G>A (p.Ser239Asn) c.605G>A (p.Ser202Asn) c.557G>A (p.Ser186Asn) c.554G>A (p.Ser185Asn) c.608G>A (p.Ser203Asn) c.719G>A (p.Ser240Asn) c.946-211519G>A (n.946-211519G>A) | |
6 | g.44230371G>C | CA364306070 | POLR1C,SLC29A1 | c.479G>C (p.Ser160Thr) n.877G>C n.897G>C c.422G>C (p.Ser141Thr) c.166G>C n.668G>C c.716G>C (p.Ser239Thr) c.605G>C (p.Ser202Thr) c.557G>C (p.Ser186Thr) c.554G>C (p.Ser185Thr) c.608G>C (p.Ser203Thr) c.719G>C (p.Ser240Thr) c.946-211519G>C (n.946-211519G>C) | |
6 | g.44230371G>T | CA364306069 | POLR1C,SLC29A1 | c.479G>T (p.Ser160Ile) n.877G>T n.897G>T c.422G>T (p.Ser141Ile) c.166G>T n.668G>T c.716G>T (p.Ser239Ile) c.605G>T (p.Ser202Ile) c.557G>T (p.Ser186Ile) c.554G>T (p.Ser185Ile) c.608G>T (p.Ser203Ile) c.719G>T (p.Ser240Ile) c.946-211519G>T (n.946-211519G>T) | |
6 | g.44230372C>A | CA364306071 | POLR1C,SLC29A1 | c.480C>A (p.Ser160Arg) n.878C>A n.898C>A c.423C>A (p.Ser141Arg) c.167C>A n.669C>A c.717C>A (p.Ser239Arg) c.606C>A (p.Ser202Arg) c.558C>A (p.Ser186Arg) c.555C>A (p.Ser185Arg) c.609C>A (p.Ser203Arg) c.720C>A (p.Ser240Arg) c.946-211518C>A (n.946-211518C>A) | |
6 | g.44230372C>G | CA364306072 | POLR1C,SLC29A1 | c.480C>G (p.Ser160Arg) n.878C>G n.898C>G c.423C>G (p.Ser141Arg) c.167C>G n.669C>G c.717C>G (p.Ser239Arg) c.606C>G (p.Ser202Arg) c.558C>G (p.Ser186Arg) c.555C>G (p.Ser185Arg) c.609C>G (p.Ser203Arg) c.720C>G (p.Ser240Arg) c.946-211518C>G (n.946-211518C>G) | |
6 | g.44230372C>T | CA450308370 | POLR1C,SLC29A1 | c.480C>T (p.Ser160=) n.878C>T n.898C>T c.423C>T (p.Ser141=) c.167C>T n.669C>T c.717C>T (p.Ser239=) c.606C>T (p.Ser202=) c.558C>T (p.Ser186=) c.555C>T (p.Ser185=) c.609C>T (p.Ser203=) c.720C>T (p.Ser240=) c.946-211518C>T (n.946-211518C>T) | |
6 | g.44230373C>A | CA364306073 | POLR1C,SLC29A1 | c.481C>A (p.Leu161Met) n.879C>A n.899C>A c.424C>A (p.Leu142Met) c.168C>A n.670C>A c.718C>A (p.Leu240Met) c.607C>A (p.Leu203Met) c.559C>A (p.Leu187Met) c.556C>A (p.Leu186Met) c.610C>A (p.Leu204Met) c.721C>A (p.Leu241Met) c.946-211517C>A (n.946-211517C>A) | |
6 | g.44230373C= | CA1624908191 | POLR1C,SLC29A1 | c.481C= (p.Leu161=) n.879C= n.899C= c.424C= (p.Leu142=) c.168C= n.670C= c.718C= (p.Leu240=) c.607C= (p.Leu203=) c.559C= (p.Leu187=) c.556C= (p.Leu186=) c.610C= (p.Leu204=) c.721C= (p.Leu241=) c.946-211517C= (n.946-211517C=) | |
6 | g.44230373C>G | CA3831581 | POLR1C,SLC29A1 | c.481C>G (p.Leu161Val) n.879C>G n.899C>G c.424C>G (p.Leu142Val) c.168C>G n.670C>G c.718C>G (p.Leu240Val) c.607C>G (p.Leu203Val) c.559C>G (p.Leu187Val) c.556C>G (p.Leu186Val) c.610C>G (p.Leu204Val) c.721C>G (p.Leu241Val) c.946-211517C>G (n.946-211517C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44230373C>T | CA450308371 | POLR1C,SLC29A1 | c.481C>T (p.Leu161=) n.879C>T n.899C>T c.424C>T (p.Leu142=) c.168C>T n.670C>T c.718C>T (p.Leu240=) c.607C>T (p.Leu203=) c.559C>T (p.Leu187=) c.556C>T (p.Leu186=) c.610C>T (p.Leu204=) c.721C>T (p.Leu241=) c.946-211517C>T (n.946-211517C>T) | dbSNP |
6 | g.44230374T>A | CA364306074 | POLR1C,SLC29A1 | c.482T>A (p.Leu161Gln) n.880T>A n.900T>A c.425T>A (p.Leu142Gln) c.169T>A n.671T>A c.719T>A (p.Leu240Gln) c.608T>A (p.Leu203Gln) c.560T>A (p.Leu187Gln) c.557T>A (p.Leu186Gln) c.611T>A (p.Leu204Gln) c.722T>A (p.Leu241Gln) c.946-211516T>A (n.946-211516T>A) | |
6 | g.44230374T>C | CA364306075 | POLR1C,SLC29A1 | c.482T>C (p.Leu161Pro) n.880T>C n.900T>C c.425T>C (p.Leu142Pro) c.169T>C n.671T>C c.719T>C (p.Leu240Pro) c.608T>C (p.Leu203Pro) c.560T>C (p.Leu187Pro) c.557T>C (p.Leu186Pro) c.611T>C (p.Leu204Pro) c.722T>C (p.Leu241Pro) c.946-211516T>C (n.946-211516T>C) | |
6 | g.44230374T>G | CA364306076 | POLR1C,SLC29A1 | c.482T>G (p.Leu161Arg) n.880T>G n.900T>G c.425T>G (p.Leu142Arg) c.169T>G n.671T>G c.719T>G (p.Leu240Arg) c.608T>G (p.Leu203Arg) c.560T>G (p.Leu187Arg) c.557T>G (p.Leu186Arg) c.611T>G (p.Leu204Arg) c.722T>G (p.Leu241Arg) c.946-211516T>G (n.946-211516T>G) | |
6 | g.44230375G>A | CA450308374 | POLR1C,SLC29A1 | c.483G>A (p.Leu161=) n.881G>A n.901G>A c.426G>A (p.Leu142=) c.170G>A n.672G>A c.720G>A (p.Leu240=) c.609G>A (p.Leu203=) c.561G>A (p.Leu187=) c.558G>A (p.Leu186=) c.612G>A (p.Leu204=) c.723G>A (p.Leu241=) c.946-211515G>A (n.946-211515G>A) | |
6 | g.44230375G>C | CA450308372 | POLR1C,SLC29A1 | c.483G>C (p.Leu161=) n.881G>C n.901G>C c.426G>C (p.Leu142=) c.170G>C n.672G>C c.720G>C (p.Leu240=) c.609G>C (p.Leu203=) c.561G>C (p.Leu187=) c.558G>C (p.Leu186=) c.612G>C (p.Leu204=) c.723G>C (p.Leu241=) c.946-211515G>C (n.946-211515G>C) | |
6 | g.44230375G>T | CA450308373 | POLR1C,SLC29A1 | c.483G>T (p.Leu161=) n.881G>T n.901G>T c.426G>T (p.Leu142=) c.170G>T n.672G>T c.720G>T (p.Leu240=) c.609G>T (p.Leu203=) c.561G>T (p.Leu187=) c.558G>T (p.Leu186=) c.612G>T (p.Leu204=) c.723G>T (p.Leu241=) c.946-211515G>T (n.946-211515G>T) | |
6 | g.44230376T>A | CA364306077 | POLR1C,SLC29A1 | c.484T>A (p.Phe162Ile) n.882T>A n.902T>A c.427T>A (p.Phe143Ile) c.171T>A n.673T>A c.721T>A (p.Phe241Ile) c.610T>A (p.Phe204Ile) c.562T>A (p.Phe188Ile) c.559T>A (p.Phe187Ile) c.613T>A (p.Phe205Ile) c.724T>A (p.Phe242Ile) c.946-211514T>A (n.946-211514T>A) | |
6 | g.44230376T>C | CA364306078 | POLR1C,SLC29A1 | c.484T>C (p.Phe162Leu) n.882T>C n.902T>C c.427T>C (p.Phe143Leu) c.171T>C n.673T>C c.721T>C (p.Phe241Leu) c.610T>C (p.Phe204Leu) c.562T>C (p.Phe188Leu) c.559T>C (p.Phe187Leu) c.613T>C (p.Phe205Leu) c.724T>C (p.Phe242Leu) c.946-211514T>C (n.946-211514T>C) | |
6 | g.44230376T>G | CA364306079 | POLR1C,SLC29A1 | c.484T>G (p.Phe162Val) n.882T>G n.902T>G c.427T>G (p.Phe143Val) c.171T>G n.673T>G c.721T>G (p.Phe241Val) c.610T>G (p.Phe204Val) c.562T>G (p.Phe188Val) c.559T>G (p.Phe187Val) c.613T>G (p.Phe205Val) c.724T>G (p.Phe242Val) c.946-211514T>G (n.946-211514T>G) | |
6 | g.44230377T>A | CA364306080 | POLR1C,SLC29A1 | c.485T>A (p.Phe162Tyr) n.883T>A n.903T>A c.428T>A (p.Phe143Tyr) c.172T>A n.674T>A c.722T>A (p.Phe241Tyr) c.611T>A (p.Phe204Tyr) c.563T>A (p.Phe188Tyr) c.560T>A (p.Phe187Tyr) c.614T>A (p.Phe205Tyr) c.725T>A (p.Phe242Tyr) c.946-211513T>A (n.946-211513T>A) | |
6 | g.44230377T>C | CA364306082 | POLR1C,SLC29A1 | c.485T>C (p.Phe162Ser) n.883T>C n.903T>C c.428T>C (p.Phe143Ser) c.172T>C n.674T>C c.722T>C (p.Phe241Ser) c.611T>C (p.Phe204Ser) c.563T>C (p.Phe188Ser) c.560T>C (p.Phe187Ser) c.614T>C (p.Phe205Ser) c.725T>C (p.Phe242Ser) c.946-211513T>C (n.946-211513T>C) | |
6 | g.44230377T>G | CA364306081 | POLR1C,SLC29A1 | c.485T>G (p.Phe162Cys) n.883T>G n.903T>G c.428T>G (p.Phe143Cys) c.172T>G n.674T>G c.722T>G (p.Phe241Cys) c.611T>G (p.Phe204Cys) c.563T>G (p.Phe188Cys) c.560T>G (p.Phe187Cys) c.614T>G (p.Phe205Cys) c.725T>G (p.Phe242Cys) c.946-211513T>G (n.946-211513T>G) | |
6 | g.44230378T>A | CA364306083 | POLR1C,SLC29A1 | c.486T>A (p.Phe162Leu) n.884T>A n.904T>A c.429T>A (p.Phe143Leu) c.173T>A n.675T>A c.723T>A (p.Phe241Leu) c.612T>A (p.Phe204Leu) c.564T>A (p.Phe188Leu) c.561T>A (p.Phe187Leu) c.615T>A (p.Phe205Leu) c.726T>A (p.Phe242Leu) c.946-211512T>A (n.946-211512T>A) | |
6 | g.44230378T>C | CA450308375 | POLR1C,SLC29A1 | c.486T>C (p.Phe162=) n.884T>C n.904T>C c.429T>C (p.Phe143=) c.173T>C n.675T>C c.723T>C (p.Phe241=) c.612T>C (p.Phe204=) c.564T>C (p.Phe188=) c.561T>C (p.Phe187=) c.615T>C (p.Phe205=) c.726T>C (p.Phe242=) c.946-211512T>C (n.946-211512T>C) | |
6 | g.44230378T>G | CA364306084 | POLR1C,SLC29A1 | c.486T>G (p.Phe162Leu) n.884T>G n.904T>G c.429T>G (p.Phe143Leu) c.173T>G n.675T>G c.723T>G (p.Phe241Leu) c.612T>G (p.Phe204Leu) c.564T>G (p.Phe188Leu) c.561T>G (p.Phe187Leu) c.615T>G (p.Phe205Leu) c.726T>G (p.Phe242Leu) c.946-211512T>G (n.946-211512T>G) | |
6 | g.44230381_44230385del | CA2678935184 | POLR1C,SLC29A1 | c.489_493del (p.Leu164TrpfsTer?) n.887_891del n.907_911del c.432_436del (p.Leu145TrpfsTer?) c.176_180del n.678_682del c.726_730del (p.Leu243TrpfsTer?) c.615_619del (p.Leu206TrpfsTer?) c.567_571del (p.Leu190TrpfsTer?) c.564_568del (p.Leu189TrpfsTer?) c.618_622del (p.Leu207TrpfsTer?) c.729_733del (p.Leu244TrpfsTer?) c.946-211509_946-211505del (n.946-211509_946-211505del) | gnomAD v4 |
6 | g.44230379G>A | CA364306085 | POLR1C,SLC29A1 | c.487G>A (p.Gly163Ser) n.885G>A n.905G>A c.430G>A (p.Gly144Ser) c.174G>A n.676G>A c.724G>A (p.Gly242Ser) c.613G>A (p.Gly205Ser) c.565G>A (p.Gly189Ser) c.562G>A (p.Gly188Ser) c.616G>A (p.Gly206Ser) c.727G>A (p.Gly243Ser) c.946-211511G>A (n.946-211511G>A) | dbSNP gnomAD v2 |
6 | g.44230379G>C | CA364306087 | POLR1C,SLC29A1 | c.487G>C (p.Gly163Arg) n.885G>C n.905G>C c.430G>C (p.Gly144Arg) c.174G>C n.676G>C c.724G>C (p.Gly242Arg) c.613G>C (p.Gly205Arg) c.565G>C (p.Gly189Arg) c.562G>C (p.Gly188Arg) c.616G>C (p.Gly206Arg) c.727G>C (p.Gly243Arg) c.946-211511G>C (n.946-211511G>C) | |
6 | g.44230379G= | CA1624908195 | POLR1C,SLC29A1 | c.487G= (p.Gly163=) n.885G= n.905G= c.430G= (p.Gly144=) c.174G= n.676G= c.724G= (p.Gly242=) c.613G= (p.Gly205=) c.565G= (p.Gly189=) c.562G= (p.Gly188=) c.616G= (p.Gly206=) c.727G= (p.Gly243=) c.946-211511G= (n.946-211511G=) | |
6 | g.44230379G>T | CA364306086 | POLR1C,SLC29A1 | c.487G>T (p.Gly163Cys) n.885G>T n.905G>T c.430G>T (p.Gly144Cys) c.174G>T n.676G>T c.724G>T (p.Gly242Cys) c.613G>T (p.Gly205Cys) c.565G>T (p.Gly189Cys) c.562G>T (p.Gly188Cys) c.616G>T (p.Gly206Cys) c.727G>T (p.Gly243Cys) c.946-211511G>T (n.946-211511G>T) | gnomAD v4 |
6 | g.44230380G>A | CA364306088 | POLR1C,SLC29A1 | c.488G>A (p.Gly163Asp) n.886G>A n.906G>A c.431G>A (p.Gly144Asp) c.175G>A n.677G>A c.725G>A (p.Gly242Asp) c.614G>A (p.Gly205Asp) c.566G>A (p.Gly189Asp) c.563G>A (p.Gly188Asp) c.617G>A (p.Gly206Asp) c.728G>A (p.Gly243Asp) c.946-211510G>A (n.946-211510G>A) | |
6 | g.44230380G>C | CA364306089 | POLR1C,SLC29A1 | c.488G>C (p.Gly163Ala) n.886G>C n.906G>C c.431G>C (p.Gly144Ala) c.175G>C n.677G>C c.725G>C (p.Gly242Ala) c.614G>C (p.Gly205Ala) c.566G>C (p.Gly189Ala) c.563G>C (p.Gly188Ala) c.617G>C (p.Gly206Ala) c.728G>C (p.Gly243Ala) c.946-211510G>C (n.946-211510G>C) | |
6 | g.44230380G>T | CA364306090 | POLR1C,SLC29A1 | c.488G>T (p.Gly163Val) n.886G>T n.906G>T c.431G>T (p.Gly144Val) c.175G>T n.677G>T c.725G>T (p.Gly242Val) c.614G>T (p.Gly205Val) c.566G>T (p.Gly189Val) c.563G>T (p.Gly188Val) c.617G>T (p.Gly206Val) c.728G>T (p.Gly243Val) c.946-211510G>T (n.946-211510G>T) | |
6 | g.44230381T>A | CA450308376 | POLR1C,SLC29A1 | c.489T>A (p.Gly163=) n.887T>A n.907T>A c.432T>A (p.Gly144=) c.176T>A n.678T>A c.726T>A (p.Gly242=) c.615T>A (p.Gly205=) c.567T>A (p.Gly189=) c.564T>A (p.Gly188=) c.618T>A (p.Gly206=) c.729T>A (p.Gly243=) c.946-211509T>A (n.946-211509T>A) | gnomAD v4 |
6 | g.44230381T>C | CA450308377 | POLR1C,SLC29A1 | c.489T>C (p.Gly163=) n.887T>C n.907T>C c.432T>C (p.Gly144=) c.176T>C n.678T>C c.726T>C (p.Gly242=) c.615T>C (p.Gly205=) c.567T>C (p.Gly189=) c.564T>C (p.Gly188=) c.618T>C (p.Gly206=) c.729T>C (p.Gly243=) c.946-211509T>C (n.946-211509T>C) | |
6 | g.44230381T>G | CA450308378 | POLR1C,SLC29A1 | c.489T>G (p.Gly163=) n.887T>G n.907T>G c.432T>G (p.Gly144=) c.176T>G n.678T>G c.726T>G (p.Gly242=) c.615T>G (p.Gly205=) c.567T>G (p.Gly189=) c.564T>G (p.Gly188=) c.618T>G (p.Gly206=) c.729T>G (p.Gly243=) c.946-211509T>G (n.946-211509T>G) | |
6 | g.44230382C>A | CA364306091 | POLR1C,SLC29A1 | c.490C>A (p.Leu164Met) n.888C>A n.908C>A c.433C>A (p.Leu145Met) c.177C>A n.679C>A c.727C>A (p.Leu243Met) c.616C>A (p.Leu206Met) c.568C>A (p.Leu190Met) c.565C>A (p.Leu189Met) c.619C>A (p.Leu207Met) c.730C>A (p.Leu244Met) c.946-211508C>A (n.946-211508C>A) | |
6 | g.44230382C= | CA1624908199 | POLR1C,SLC29A1 | c.490C= (p.Leu164=) n.888C= n.908C= c.433C= (p.Leu145=) c.177C= n.679C= c.727C= (p.Leu243=) c.616C= (p.Leu206=) c.568C= (p.Leu190=) c.565C= (p.Leu189=) c.619C= (p.Leu207=) c.730C= (p.Leu244=) c.946-211508C= (n.946-211508C=) | |
6 | g.44230382C>G | CA364306092 | POLR1C,SLC29A1 | c.490C>G (p.Leu164Val) n.888C>G n.908C>G c.433C>G (p.Leu145Val) c.177C>G n.679C>G c.727C>G (p.Leu243Val) c.616C>G (p.Leu206Val) c.568C>G (p.Leu190Val) c.565C>G (p.Leu189Val) c.619C>G (p.Leu207Val) c.730C>G (p.Leu244Val) c.946-211508C>G (n.946-211508C>G) | gnomAD v4 |
6 | g.44230382C>T | CA450308379 | POLR1C,SLC29A1 | c.490C>T (p.Leu164=) n.888C>T n.908C>T c.433C>T (p.Leu145=) c.177C>T n.679C>T c.727C>T (p.Leu243=) c.616C>T (p.Leu206=) c.568C>T (p.Leu190=) c.565C>T (p.Leu189=) c.619C>T (p.Leu207=) c.730C>T (p.Leu244=) c.946-211508C>T (n.946-211508C>T) | dbSNP |
6 | g.44230383T>A | CA364306093 | POLR1C,SLC29A1 | c.491T>A (p.Leu164Gln) n.889T>A n.909T>A c.434T>A (p.Leu145Gln) c.178T>A n.680T>A c.728T>A (p.Leu243Gln) c.617T>A (p.Leu206Gln) c.569T>A (p.Leu190Gln) c.566T>A (p.Leu189Gln) c.620T>A (p.Leu207Gln) c.731T>A (p.Leu244Gln) c.946-211507T>A (n.946-211507T>A) | |
6 | g.44230383T>C | CA364306094 | POLR1C,SLC29A1 | c.491T>C (p.Leu164Pro) n.889T>C n.909T>C c.434T>C (p.Leu145Pro) c.178T>C n.680T>C c.728T>C (p.Leu243Pro) c.617T>C (p.Leu206Pro) c.569T>C (p.Leu190Pro) c.566T>C (p.Leu189Pro) c.620T>C (p.Leu207Pro) c.731T>C (p.Leu244Pro) c.946-211507T>C (n.946-211507T>C) | |
6 | g.44230383T>G | CA364306095 | POLR1C,SLC29A1 | c.491T>G (p.Leu164Arg) n.889T>G n.909T>G c.434T>G (p.Leu145Arg) c.178T>G n.680T>G c.728T>G (p.Leu243Arg) c.617T>G (p.Leu206Arg) c.569T>G (p.Leu190Arg) c.566T>G (p.Leu189Arg) c.620T>G (p.Leu207Arg) c.731T>G (p.Leu244Arg) c.946-211507T>G (n.946-211507T>G) | |
6 | g.44230384G>A | CA3831582 | POLR1C,SLC29A1 | c.492G>A (p.Leu164=) n.890G>A n.910G>A c.435G>A (p.Leu145=) c.179G>A n.681G>A c.729G>A (p.Leu243=) c.618G>A (p.Leu206=) c.570G>A (p.Leu190=) c.567G>A (p.Leu189=) c.621G>A (p.Leu207=) c.732G>A (p.Leu244=) c.946-211506G>A (n.946-211506G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.44230384G>C | CA450308380 | POLR1C,SLC29A1 | c.492G>C (p.Leu164=) n.890G>C n.910G>C c.435G>C (p.Leu145=) c.179G>C n.681G>C c.729G>C (p.Leu243=) c.618G>C (p.Leu206=) c.570G>C (p.Leu190=) c.567G>C (p.Leu189=) c.621G>C (p.Leu207=) c.732G>C (p.Leu244=) c.946-211506G>C (n.946-211506G>C) | |
6 | g.44230384G= | CA1624908201 | POLR1C,SLC29A1 | c.492G= (p.Leu164=) n.890G= n.910G= c.435G= (p.Leu145=) c.179G= n.681G= c.729G= (p.Leu243=) c.618G= (p.Leu206=) c.570G= (p.Leu190=) c.567G= (p.Leu189=) c.621G= (p.Leu207=) c.732G= (p.Leu244=) c.946-211506G= (n.946-211506G=) | |
6 | g.44230384G>T | CA450308381 | POLR1C,SLC29A1 | c.492G>T (p.Leu164=) n.890G>T n.910G>T c.435G>T (p.Leu145=) c.179G>T n.681G>T c.729G>T (p.Leu243=) c.618G>T (p.Leu206=) c.570G>T (p.Leu190=) c.567G>T (p.Leu189=) c.621G>T (p.Leu207=) c.732G>T (p.Leu244=) c.946-211506G>T (n.946-211506G>T) | |
6 | g.44230385G>A | CA364306096 | POLR1C,SLC29A1 | c.493G>A (p.Ala165Thr) n.891G>A n.911G>A c.436G>A (p.Ala146Thr) c.180G>A n.682G>A c.730G>A (p.Ala244Thr) c.619G>A (p.Ala207Thr) c.571G>A (p.Ala191Thr) c.568G>A (p.Ala190Thr) c.622G>A (p.Ala208Thr) c.733G>A (p.Ala245Thr) c.946-211505G>A (n.946-211505G>A) | |
6 | g.44230385G>C | CA364306097 | POLR1C,SLC29A1 | c.493G>C (p.Ala165Pro) n.891G>C n.911G>C c.436G>C (p.Ala146Pro) c.180G>C n.682G>C c.730G>C (p.Ala244Pro) c.619G>C (p.Ala207Pro) c.571G>C (p.Ala191Pro) c.568G>C (p.Ala190Pro) c.622G>C (p.Ala208Pro) c.733G>C (p.Ala245Pro) c.946-211505G>C (n.946-211505G>C) | |
6 | g.44230385G>T | CA364306098 | POLR1C,SLC29A1 | c.493G>T (p.Ala165Ser) n.891G>T n.911G>T c.436G>T (p.Ala146Ser) c.180G>T n.682G>T c.730G>T (p.Ala244Ser) c.619G>T (p.Ala207Ser) c.571G>T (p.Ala191Ser) c.568G>T (p.Ala190Ser) c.622G>T (p.Ala208Ser) c.733G>T (p.Ala245Ser) c.946-211505G>T (n.946-211505G>T) | |
6 | g.44230386C>A | CA364306099 | POLR1C,SLC29A1 | c.494C>A (p.Ala165Asp) n.892C>A n.912C>A c.437C>A (p.Ala146Asp) c.181C>A n.683C>A c.731C>A (p.Ala244Asp) c.620C>A (p.Ala207Asp) c.572C>A (p.Ala191Asp) c.569C>A (p.Ala190Asp) c.623C>A (p.Ala208Asp) c.734C>A (p.Ala245Asp) c.946-211504C>A (n.946-211504C>A) | |
6 | g.44230386C= | CA1624908205 | POLR1C,SLC29A1 | c.494C= (p.Ala165=) n.892C= n.912C= c.437C= (p.Ala146=) c.181C= n.683C= c.731C= (p.Ala244=) c.620C= (p.Ala207=) c.572C= (p.Ala191=) c.569C= (p.Ala190=) c.623C= (p.Ala208=) c.734C= (p.Ala245=) c.946-211504C= (n.946-211504C=) | |
6 | g.44230386C>G | CA364306100 | POLR1C,SLC29A1 | c.494C>G (p.Ala165Gly) n.892C>G n.912C>G c.437C>G (p.Ala146Gly) c.181C>G n.683C>G c.731C>G (p.Ala244Gly) c.620C>G (p.Ala207Gly) c.572C>G (p.Ala191Gly) c.569C>G (p.Ala190Gly) c.623C>G (p.Ala208Gly) c.734C>G (p.Ala245Gly) c.946-211504C>G (n.946-211504C>G) | |
6 | g.44230386C>T | CA138375159 | POLR1C,SLC29A1 | c.494C>T (p.Ala165Val) n.892C>T n.912C>T c.437C>T (p.Ala146Val) c.181C>T n.683C>T c.731C>T (p.Ala244Val) c.620C>T (p.Ala207Val) c.572C>T (p.Ala191Val) c.569C>T (p.Ala190Val) c.623C>T (p.Ala208Val) c.734C>T (p.Ala245Val) c.946-211504C>T (n.946-211504C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.44230387T>A | CA450308382 | POLR1C,SLC29A1 | c.495T>A (p.Ala165=) n.893T>A n.913T>A c.438T>A (p.Ala146=) c.182T>A n.684T>A c.732T>A (p.Ala244=) c.621T>A (p.Ala207=) c.573T>A (p.Ala191=) c.570T>A (p.Ala190=) c.624T>A (p.Ala208=) c.735T>A (p.Ala245=) c.946-211503T>A (n.946-211503T>A) | |
6 | g.44230387T>C | CA450308383 | POLR1C,SLC29A1 | c.495T>C (p.Ala165=) n.893T>C n.913T>C c.438T>C (p.Ala146=) c.182T>C n.684T>C c.732T>C (p.Ala244=) c.621T>C (p.Ala207=) c.573T>C (p.Ala191=) c.570T>C (p.Ala190=) c.624T>C (p.Ala208=) c.735T>C (p.Ala245=) c.946-211503T>C (n.946-211503T>C) | gnomAD v4 COSMIC COSMIC |
6 | g.44230387T>G | CA450308384 | POLR1C,SLC29A1 | c.495T>G (p.Ala165=) n.893T>G n.913T>G c.438T>G (p.Ala146=) c.182T>G n.684T>G c.732T>G (p.Ala244=) c.621T>G (p.Ala207=) c.573T>G (p.Ala191=) c.570T>G (p.Ala190=) c.624T>G (p.Ala208=) c.735T>G (p.Ala245=) c.946-211503T>G (n.946-211503T>G) | |
6 | g.44230388G>A | CA364306101 | POLR1C,SLC29A1 | c.496G>A (p.Gly166Ser) n.894G>A n.914G>A c.439G>A (p.Gly147Ser) c.183G>A n.685G>A c.733G>A (p.Gly245Ser) c.622G>A (p.Gly208Ser) c.574G>A (p.Gly192Ser) c.571G>A (p.Gly191Ser) c.625G>A (p.Gly209Ser) c.736G>A (p.Gly246Ser) c.946-211502G>A (n.946-211502G>A) | |
6 | g.44230388G>C | CA364306103 | POLR1C,SLC29A1 | c.496G>C (p.Gly166Arg) n.894G>C n.914G>C c.439G>C (p.Gly147Arg) c.183G>C n.685G>C c.733G>C (p.Gly245Arg) c.622G>C (p.Gly208Arg) c.574G>C (p.Gly192Arg) c.571G>C (p.Gly191Arg) c.625G>C (p.Gly209Arg) c.736G>C (p.Gly246Arg) c.946-211502G>C (n.946-211502G>C) | |
6 | g.44230388G>T | CA364306102 | POLR1C,SLC29A1 | c.496G>T (p.Gly166Cys) n.894G>T n.914G>T c.439G>T (p.Gly147Cys) c.183G>T n.685G>T c.733G>T (p.Gly245Cys) c.622G>T (p.Gly208Cys) c.574G>T (p.Gly192Cys) c.571G>T (p.Gly191Cys) c.625G>T (p.Gly209Cys) c.736G>T (p.Gly246Cys) c.946-211502G>T (n.946-211502G>T) | |
6 | g.44230389G>A | CA364306104 | POLR1C,SLC29A1 | c.497G>A (p.Gly166Asp) n.895G>A n.915G>A c.440G>A (p.Gly147Asp) c.184G>A n.686G>A c.734G>A (p.Gly245Asp) c.623G>A (p.Gly208Asp) c.575G>A (p.Gly192Asp) c.572G>A (p.Gly191Asp) c.626G>A (p.Gly209Asp) c.737G>A (p.Gly246Asp) c.946-211501G>A (n.946-211501G>A) | |
6 | g.44230389G>C | CA364306105 | POLR1C,SLC29A1 | c.497G>C (p.Gly166Ala) n.895G>C n.915G>C c.440G>C (p.Gly147Ala) c.184G>C n.686G>C c.734G>C (p.Gly245Ala) c.623G>C (p.Gly208Ala) c.575G>C (p.Gly192Ala) c.572G>C (p.Gly191Ala) c.626G>C (p.Gly209Ala) c.737G>C (p.Gly246Ala) c.946-211501G>C (n.946-211501G>C) | |
6 | g.44230389G>T | CA364306106 | POLR1C,SLC29A1 | c.497G>T (p.Gly166Val) n.895G>T n.915G>T c.440G>T (p.Gly147Val) c.184G>T n.686G>T c.734G>T (p.Gly245Val) c.623G>T (p.Gly208Val) c.575G>T (p.Gly192Val) c.572G>T (p.Gly191Val) c.626G>T (p.Gly209Val) c.737G>T (p.Gly246Val) c.946-211501G>T (n.946-211501G>T) | |
6 | g.44230390C>A | CA450308385 | POLR1C,SLC29A1 | c.498C>A (p.Gly166=) n.896C>A n.916C>A c.441C>A (p.Gly147=) c.185C>A n.687C>A c.735C>A (p.Gly245=) c.624C>A (p.Gly208=) c.576C>A (p.Gly192=) c.573C>A (p.Gly191=) c.627C>A (p.Gly209=) c.738C>A (p.Gly246=) c.946-211500C>A (n.946-211500C>A) | |
6 | g.44230390C>G | CA450308386 | POLR1C,SLC29A1 | c.498C>G (p.Gly166=) n.896C>G n.916C>G c.441C>G (p.Gly147=) c.185C>G n.687C>G c.735C>G (p.Gly245=) c.624C>G (p.Gly208=) c.576C>G (p.Gly192=) c.573C>G (p.Gly191=) c.627C>G (p.Gly209=) c.738C>G (p.Gly246=) c.946-211500C>G (n.946-211500C>G) | gnomAD v4 |
6 | g.44230390C>T | CA450308387 | POLR1C,SLC29A1 | c.498C>T (p.Gly166=) n.896C>T n.916C>T c.441C>T (p.Gly147=) c.185C>T n.687C>T c.735C>T (p.Gly245=) c.624C>T (p.Gly208=) c.576C>T (p.Gly192=) c.573C>T (p.Gly191=) c.627C>T (p.Gly209=) c.738C>T (p.Gly246=) c.946-211500C>T (n.946-211500C>T) | |
6 | g.44230391C>A | CA364306107 | POLR1C,SLC29A1 | c.499C>A (p.Leu167Ile) n.897C>A n.917C>A c.442C>A (p.Leu148Ile) c.186C>A n.688C>A c.736C>A (p.Leu246Ile) c.625C>A (p.Leu209Ile) c.577C>A (p.Leu193Ile) c.574C>A (p.Leu192Ile) c.628C>A (p.Leu210Ile) c.739C>A (p.Leu247Ile) c.946-211499C>A (n.946-211499C>A) | |
6 | g.44230391C>G | CA364306108 | POLR1C,SLC29A1 | c.499C>G (p.Leu167Val) n.897C>G n.917C>G c.442C>G (p.Leu148Val) c.186C>G n.688C>G c.736C>G (p.Leu246Val) c.625C>G (p.Leu209Val) c.577C>G (p.Leu193Val) c.574C>G (p.Leu192Val) c.628C>G (p.Leu210Val) c.739C>G (p.Leu247Val) c.946-211499C>G (n.946-211499C>G) | |
6 | g.44230391C>T | CA364306109 | POLR1C,SLC29A1 | c.499C>T (p.Leu167Phe) n.897C>T n.917C>T c.442C>T (p.Leu148Phe) c.186C>T n.688C>T c.736C>T (p.Leu246Phe) c.625C>T (p.Leu209Phe) c.577C>T (p.Leu193Phe) c.574C>T (p.Leu192Phe) c.628C>T (p.Leu210Phe) c.739C>T (p.Leu247Phe) c.946-211499C>T (n.946-211499C>T) | |
6 | g.44230393_44230395del | CA2678935185 | POLR1C,SLC29A1 | c.501_503del (p.Leu168del) n.899_901del n.919_921del c.444_446del (p.Leu149del) c.188_190del n.690_692del c.738_740del (p.Leu247del) c.627_629del (p.Leu210del) c.579_581del (p.Leu194del) c.576_578del (p.Leu193del) c.630_632del (p.Leu211del) c.741_743del (p.Leu248del) c.946-211497_946-211495del (n.946-211497_946-211495del) | gnomAD v4 |
6 | g.44230392T>A | CA364306110 | POLR1C,SLC29A1 | c.500T>A (p.Leu167His) n.898T>A n.918T>A c.443T>A (p.Leu148His) c.187T>A n.689T>A c.737T>A (p.Leu246His) c.626T>A (p.Leu209His) c.578T>A (p.Leu193His) c.575T>A (p.Leu192His) c.629T>A (p.Leu210His) c.740T>A (p.Leu247His) c.946-211498T>A (n.946-211498T>A) | |
6 | g.44230392T>C | CA364306111 | POLR1C,SLC29A1 | c.500T>C (p.Leu167Pro) n.898T>C n.918T>C c.443T>C (p.Leu148Pro) c.187T>C n.689T>C c.737T>C (p.Leu246Pro) c.626T>C (p.Leu209Pro) c.578T>C (p.Leu193Pro) c.575T>C (p.Leu192Pro) c.629T>C (p.Leu210Pro) c.740T>C (p.Leu247Pro) c.946-211498T>C (n.946-211498T>C) | |
6 | g.44230392T>G | CA364306112 | POLR1C,SLC29A1 | c.500T>G (p.Leu167Arg) n.898T>G n.918T>G c.443T>G (p.Leu148Arg) c.187T>G n.689T>G c.737T>G (p.Leu246Arg) c.626T>G (p.Leu209Arg) c.578T>G (p.Leu193Arg) c.575T>G (p.Leu192Arg) c.629T>G (p.Leu210Arg) c.740T>G (p.Leu247Arg) c.946-211498T>G (n.946-211498T>G) | |
6 | g.44230393T>A | CA450308388 | POLR1C,SLC29A1 | c.501T>A (p.Leu167=) n.899T>A n.919T>A c.444T>A (p.Leu148=) c.188T>A n.690T>A c.738T>A (p.Leu246=) c.627T>A (p.Leu209=) c.579T>A (p.Leu193=) c.576T>A (p.Leu192=) c.630T>A (p.Leu210=) c.741T>A (p.Leu247=) c.946-211497T>A (n.946-211497T>A) | |
6 | g.44230393T>C | CA450308389 | POLR1C,SLC29A1 | c.501T>C (p.Leu167=) n.899T>C n.919T>C c.444T>C (p.Leu148=) c.188T>C n.690T>C c.738T>C (p.Leu246=) c.627T>C (p.Leu209=) c.579T>C (p.Leu193=) c.576T>C (p.Leu192=) c.630T>C (p.Leu210=) c.741T>C (p.Leu247=) c.946-211497T>C (n.946-211497T>C) | |
6 | g.44230393T>G | CA450308390 | POLR1C,SLC29A1 | c.501T>G (p.Leu167=) n.899T>G n.919T>G c.444T>G (p.Leu148=) c.188T>G n.690T>G c.738T>G (p.Leu246=) c.627T>G (p.Leu209=) c.579T>G (p.Leu193=) c.576T>G (p.Leu192=) c.630T>G (p.Leu210=) c.741T>G (p.Leu247=) c.946-211497T>G (n.946-211497T>G) | |
6 | g.44230394C>A | CA364306113 | POLR1C,SLC29A1 | c.502C>A (p.Leu168Met) n.900C>A n.920C>A c.445C>A (p.Leu149Met) c.189C>A n.691C>A c.739C>A (p.Leu247Met) c.628C>A (p.Leu210Met) c.580C>A (p.Leu194Met) c.577C>A (p.Leu193Met) c.631C>A (p.Leu211Met) c.742C>A (p.Leu248Met) c.946-211496C>A (n.946-211496C>A) | |
6 | g.44230394C>G | CA364306114 | POLR1C,SLC29A1 | c.502C>G (p.Leu168Val) n.900C>G n.920C>G c.445C>G (p.Leu149Val) c.189C>G n.691C>G c.739C>G (p.Leu247Val) c.628C>G (p.Leu210Val) c.580C>G (p.Leu194Val) c.577C>G (p.Leu193Val) c.631C>G (p.Leu211Val) c.742C>G (p.Leu248Val) c.946-211496C>G (n.946-211496C>G) | |
6 | g.44230394C>T | CA450308391 | POLR1C,SLC29A1 | c.502C>T (p.Leu168=) n.900C>T n.920C>T c.445C>T (p.Leu149=) c.189C>T n.691C>T c.739C>T (p.Leu247=) c.628C>T (p.Leu210=) c.580C>T (p.Leu194=) c.577C>T (p.Leu193=) c.631C>T (p.Leu211=) c.742C>T (p.Leu248=) c.946-211496C>T (n.946-211496C>T) | |
6 | g.44230395T>A | CA364306115 | POLR1C,SLC29A1 | c.503T>A (p.Leu168Gln) n.901T>A n.921T>A c.446T>A (p.Leu149Gln) c.190T>A n.692T>A c.740T>A (p.Leu247Gln) c.629T>A (p.Leu210Gln) c.581T>A (p.Leu194Gln) c.578T>A (p.Leu193Gln) c.632T>A (p.Leu211Gln) c.743T>A (p.Leu248Gln) c.946-211495T>A (n.946-211495T>A) | |
6 | g.44230395T>C | CA364306117 | POLR1C,SLC29A1 | c.503T>C (p.Leu168Pro) n.901T>C n.921T>C c.446T>C (p.Leu149Pro) c.190T>C n.692T>C c.740T>C (p.Leu247Pro) c.629T>C (p.Leu210Pro) c.581T>C (p.Leu194Pro) c.578T>C (p.Leu193Pro) c.632T>C (p.Leu211Pro) c.743T>C (p.Leu248Pro) c.946-211495T>C (n.946-211495T>C) | |
6 | g.44230395T>G | CA364306116 | POLR1C,SLC29A1 | c.503T>G (p.Leu168Arg) n.901T>G n.921T>G c.446T>G (p.Leu149Arg) c.190T>G n.692T>G c.740T>G (p.Leu247Arg) c.629T>G (p.Leu210Arg) c.581T>G (p.Leu194Arg) c.578T>G (p.Leu193Arg) c.632T>G (p.Leu211Arg) c.743T>G (p.Leu248Arg) c.946-211495T>G (n.946-211495T>G) | |
6 | g.44230396G>A | CA450308392 | POLR1C,SLC29A1 | c.504G>A (p.Leu168=) n.902G>A n.922G>A c.447G>A (p.Leu149=) c.191G>A n.693G>A c.741G>A (p.Leu247=) c.630G>A (p.Leu210=) c.582G>A (p.Leu194=) c.579G>A (p.Leu193=) c.633G>A (p.Leu211=) c.744G>A (p.Leu248=) c.946-211494G>A (n.946-211494G>A) | |
6 | g.44230396G>C | CA450308394 | POLR1C,SLC29A1 | c.504G>C (p.Leu168=) n.902G>C n.922G>C c.447G>C (p.Leu149=) c.191G>C n.693G>C c.741G>C (p.Leu247=) c.630G>C (p.Leu210=) c.582G>C (p.Leu194=) c.579G>C (p.Leu193=) c.633G>C (p.Leu211=) c.744G>C (p.Leu248=) c.946-211494G>C (n.946-211494G>C) | |
6 | g.44230396G>T | CA450308393 | POLR1C,SLC29A1 | c.504G>T (p.Leu168=) n.902G>T n.922G>T c.447G>T (p.Leu149=) c.191G>T n.693G>T c.741G>T (p.Leu247=) c.630G>T (p.Leu210=) c.582G>T (p.Leu194=) c.579G>T (p.Leu193=) c.633G>T (p.Leu211=) c.744G>T (p.Leu248=) c.946-211494G>T (n.946-211494G>T) | |
6 | g.44230397C>A | CA364306118 | POLR1C,SLC29A1 | c.505C>A (p.Pro169Thr) n.903C>A n.923C>A c.448C>A (p.Pro150Thr) c.192C>A n.694C>A c.742C>A (p.Pro248Thr) c.631C>A (p.Pro211Thr) c.583C>A (p.Pro195Thr) c.580C>A (p.Pro194Thr) c.634C>A (p.Pro212Thr) c.745C>A (p.Pro249Thr) c.946-211493C>A (n.946-211493C>A) | |
6 | g.44230397C>G | CA364306119 | POLR1C,SLC29A1 | c.505C>G (p.Pro169Ala) n.903C>G n.923C>G c.448C>G (p.Pro150Ala) c.192C>G n.694C>G c.742C>G (p.Pro248Ala) c.631C>G (p.Pro211Ala) c.583C>G (p.Pro195Ala) c.580C>G (p.Pro194Ala) c.634C>G (p.Pro212Ala) c.745C>G (p.Pro249Ala) c.946-211493C>G (n.946-211493C>G) | |
6 | g.44230397C>T | CA364306120 | POLR1C,SLC29A1 | c.505C>T (p.Pro169Ser) n.903C>T n.923C>T c.448C>T (p.Pro150Ser) c.192C>T n.694C>T c.742C>T (p.Pro248Ser) c.631C>T (p.Pro211Ser) c.583C>T (p.Pro195Ser) c.580C>T (p.Pro194Ser) c.634C>T (p.Pro212Ser) c.745C>T (p.Pro249Ser) c.946-211493C>T (n.946-211493C>T) | |
6 | g.44230398C>A | CA364306121 | POLR1C,SLC29A1 | c.506C>A (p.Pro169His) n.904C>A n.924C>A c.449C>A (p.Pro150His) c.193C>A n.695C>A c.743C>A (p.Pro248His) c.632C>A (p.Pro211His) c.584C>A (p.Pro195His) c.581C>A (p.Pro194His) c.635C>A (p.Pro212His) c.746C>A (p.Pro249His) c.946-211492C>A (n.946-211492C>A) | |
6 | g.44230398C>G | CA364306122 | POLR1C,SLC29A1 | c.506C>G (p.Pro169Arg) n.904C>G n.924C>G c.449C>G (p.Pro150Arg) c.193C>G n.695C>G c.743C>G (p.Pro248Arg) c.632C>G (p.Pro211Arg) c.584C>G (p.Pro195Arg) c.581C>G (p.Pro194Arg) c.635C>G (p.Pro212Arg) c.746C>G (p.Pro249Arg) c.946-211492C>G (n.946-211492C>G) | |
6 | g.44230398C>T | CA364306123 | POLR1C,SLC29A1 | c.506C>T (p.Pro169Leu) n.904C>T n.924C>T c.449C>T (p.Pro150Leu) c.193C>T n.695C>T c.743C>T (p.Pro248Leu) c.632C>T (p.Pro211Leu) c.584C>T (p.Pro195Leu) c.581C>T (p.Pro194Leu) c.635C>T (p.Pro212Leu) c.746C>T (p.Pro249Leu) c.946-211492C>T (n.946-211492C>T) | |
6 | g.44230399T>A | CA450308395 | POLR1C,SLC29A1 | c.507T>A (p.Pro169=) n.905T>A n.925T>A c.450T>A (p.Pro150=) c.194T>A n.696T>A c.744T>A (p.Pro248=) c.633T>A (p.Pro211=) c.585T>A (p.Pro195=) c.582T>A (p.Pro194=) c.636T>A (p.Pro212=) c.747T>A (p.Pro249=) c.946-211491T>A (n.946-211491T>A) | |
6 | g.44230399T>C | CA450308396 | POLR1C,SLC29A1 | c.507T>C (p.Pro169=) n.905T>C n.925T>C c.450T>C (p.Pro150=) c.194T>C n.696T>C c.744T>C (p.Pro248=) c.633T>C (p.Pro211=) c.585T>C (p.Pro195=) c.582T>C (p.Pro194=) c.636T>C (p.Pro212=) c.747T>C (p.Pro249=) c.946-211491T>C (n.946-211491T>C) | |
6 | g.44230399T>G | CA450308397 | POLR1C,SLC29A1 | c.507T>G (p.Pro169=) n.905T>G n.925T>G c.450T>G (p.Pro150=) c.194T>G n.696T>G c.744T>G (p.Pro248=) c.633T>G (p.Pro211=) c.585T>G (p.Pro195=) c.582T>G (p.Pro194=) c.636T>G (p.Pro212=) c.747T>G (p.Pro249=) c.946-211491T>G (n.946-211491T>G) | |
6 | g.44230400G>A | CA3831583 | POLR1C,SLC29A1 | c.508G>A (p.Ala170Thr) n.906G>A n.926G>A c.451G>A (p.Ala151Thr) c.195G>A c.508G>A n.697G>A c.745G>A (p.Ala249Thr) c.634G>A (p.Ala212Thr) c.586G>A (p.Ala196Thr) c.583G>A (p.Ala195Thr) c.637G>A (p.Ala213Thr) c.748G>A (p.Ala250Thr) c.946-211490G>A (n.946-211490G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44230400G>C | CA364306124 | POLR1C,SLC29A1 | c.508G>C (p.Ala170Pro) n.906G>C n.926G>C c.451G>C (p.Ala151Pro) c.195G>C c.508G>C n.697G>C c.745G>C (p.Ala249Pro) c.634G>C (p.Ala212Pro) c.586G>C (p.Ala196Pro) c.583G>C (p.Ala195Pro) c.637G>C (p.Ala213Pro) c.748G>C (p.Ala250Pro) c.946-211490G>C (n.946-211490G>C) | |
6 | g.44230400G= | CA1624908208 | POLR1C,SLC29A1 | c.508G= (p.Ala170=) n.906G= n.926G= c.451G= (p.Ala151=) c.195G= c.508G= n.697G= c.745G= (p.Ala249=) c.634G= (p.Ala212=) c.586G= (p.Ala196=) c.583G= (p.Ala195=) c.637G= (p.Ala213=) c.748G= (p.Ala250=) c.946-211490G= (n.946-211490G=) | |
6 | g.44230400G>T | CA364306125 | POLR1C,SLC29A1 | c.508G>T (p.Ala170Ser) n.906G>T n.926G>T c.451G>T (p.Ala151Ser) c.195G>T c.508G>T n.697G>T c.745G>T (p.Ala249Ser) c.634G>T (p.Ala212Ser) c.586G>T (p.Ala196Ser) c.583G>T (p.Ala195Ser) c.637G>T (p.Ala213Ser) c.748G>T (p.Ala250Ser) c.946-211490G>T (n.946-211490G>T) | |
6 | g.44230401C>A | CA364306126 | POLR1C,SLC29A1 | c.509C>A (p.Ala170Asp) n.907C>A n.927C>A c.452C>A (p.Ala151Asp) c.196C>A c.509C>A n.698C>A c.746C>A (p.Ala249Asp) c.635C>A (p.Ala212Asp) c.587C>A (p.Ala196Asp) c.584C>A (p.Ala195Asp) c.638C>A (p.Ala213Asp) c.749C>A (p.Ala250Asp) c.946-211489C>A (n.946-211489C>A) | |
6 | g.44230401C>G | CA364306127 | POLR1C,SLC29A1 | c.509C>G (p.Ala170Gly) n.907C>G n.927C>G c.452C>G (p.Ala151Gly) c.196C>G c.509C>G n.698C>G c.746C>G (p.Ala249Gly) c.635C>G (p.Ala212Gly) c.587C>G (p.Ala196Gly) c.584C>G (p.Ala195Gly) c.638C>G (p.Ala213Gly) c.749C>G (p.Ala250Gly) c.946-211489C>G (n.946-211489C>G) | |
6 | g.44230401C>T | CA364306128 | POLR1C,SLC29A1 | c.509C>T (p.Ala170Val) n.907C>T n.927C>T c.452C>T (p.Ala151Val) c.196C>T c.509C>T n.698C>T c.746C>T (p.Ala249Val) c.635C>T (p.Ala212Val) c.587C>T (p.Ala196Val) c.584C>T (p.Ala195Val) c.638C>T (p.Ala213Val) c.749C>T (p.Ala250Val) c.946-211489C>T (n.946-211489C>T) | |
6 | g.44230402C>A | CA450308398 | POLR1C,SLC29A1 | c.510C>A (p.Ala170=) n.908C>A n.928C>A c.453C>A (p.Ala151=) c.197C>A n.699C>A c.747C>A (p.Ala249=) c.636C>A (p.Ala212=) c.588C>A (p.Ala196=) c.585C>A (p.Ala195=) c.639C>A (p.Ala213=) c.750C>A (p.Ala250=) c.946-211488C>A (n.946-211488C>A) | |
6 | g.44230402C= | CA1624908211 | POLR1C,SLC29A1 | c.510C= (p.Ala170=) n.908C= n.928C= c.453C= (p.Ala151=) c.197C= n.699C= c.747C= (p.Ala249=) c.636C= (p.Ala212=) c.588C= (p.Ala196=) c.585C= (p.Ala195=) c.639C= (p.Ala213=) c.750C= (p.Ala250=) c.946-211488C= (n.946-211488C=) | |
6 | g.44230402C>G | CA450308399 | POLR1C,SLC29A1 | c.510C>G (p.Ala170=) n.908C>G n.928C>G c.453C>G (p.Ala151=) c.197C>G n.699C>G c.747C>G (p.Ala249=) c.636C>G (p.Ala212=) c.588C>G (p.Ala196=) c.585C>G (p.Ala195=) c.639C>G (p.Ala213=) c.750C>G (p.Ala250=) c.946-211488C>G (n.946-211488C>G) | |
6 | g.44230402C>T | CA138375164 | POLR1C,SLC29A1 | c.510C>T (p.Ala170=) n.908C>T n.928C>T c.453C>T (p.Ala151=) c.197C>T n.699C>T c.747C>T (p.Ala249=) c.636C>T (p.Ala212=) c.588C>T (p.Ala196=) c.585C>T (p.Ala195=) c.639C>T (p.Ala213=) c.750C>T (p.Ala250=) c.946-211488C>T (n.946-211488C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.44230403A>C | CA364306131 | POLR1C,SLC29A1 | c.511A>C (p.Ser171Arg) n.909A>C n.929A>C c.454A>C (p.Ser152Arg) c.198A>C n.700A>C c.748A>C (p.Ser250Arg) c.637A>C (p.Ser213Arg) c.589A>C (p.Ser197Arg) c.586A>C (p.Ser196Arg) c.640A>C (p.Ser214Arg) c.751A>C (p.Ser251Arg) c.946-211487A>C (n.946-211487A>C) | |
6 | g.44230403A>G | CA364306129 | POLR1C,SLC29A1 | c.511A>G (p.Ser171Gly) n.909A>G n.929A>G c.454A>G (p.Ser152Gly) c.198A>G n.700A>G c.748A>G (p.Ser250Gly) c.637A>G (p.Ser213Gly) c.589A>G (p.Ser197Gly) c.586A>G (p.Ser196Gly) c.640A>G (p.Ser214Gly) c.751A>G (p.Ser251Gly) c.946-211487A>G (n.946-211487A>G) | gnomAD v4 |
6 | g.44230403A>T | CA364306130 | POLR1C,SLC29A1 | c.511A>T (p.Ser171Cys) n.909A>T n.929A>T c.454A>T (p.Ser152Cys) c.198A>T n.700A>T c.748A>T (p.Ser250Cys) c.637A>T (p.Ser213Cys) c.589A>T (p.Ser197Cys) c.586A>T (p.Ser196Cys) c.640A>T (p.Ser214Cys) c.751A>T (p.Ser251Cys) c.946-211487A>T (n.946-211487A>T) | |
6 | g.44230404G>A | CA364306132 | POLR1C,SLC29A1 | c.512G>A (p.Ser171Asn) n.910G>A n.930G>A c.455G>A (p.Ser152Asn) c.199G>A n.701G>A c.749G>A (p.Ser250Asn) c.638G>A (p.Ser213Asn) c.590G>A (p.Ser197Asn) c.587G>A (p.Ser196Asn) c.641G>A (p.Ser214Asn) c.752G>A (p.Ser251Asn) c.946-211486G>A (n.946-211486G>A) | |
6 | g.44230404G>C | CA364306133 | POLR1C,SLC29A1 | c.512G>C (p.Ser171Thr) n.910G>C n.930G>C c.455G>C (p.Ser152Thr) c.199G>C n.701G>C c.749G>C (p.Ser250Thr) c.638G>C (p.Ser213Thr) c.590G>C (p.Ser197Thr) c.587G>C (p.Ser196Thr) c.641G>C (p.Ser214Thr) c.752G>C (p.Ser251Thr) c.946-211486G>C (n.946-211486G>C) | |
6 | g.44230404G>T | CA364306134 | POLR1C,SLC29A1 | c.512G>T (p.Ser171Ile) n.910G>T n.930G>T c.455G>T (p.Ser152Ile) c.199G>T n.701G>T c.749G>T (p.Ser250Ile) c.638G>T (p.Ser213Ile) c.590G>T (p.Ser197Ile) c.587G>T (p.Ser196Ile) c.641G>T (p.Ser214Ile) c.752G>T (p.Ser251Ile) c.946-211486G>T (n.946-211486G>T) | |
6 | g.44230405C>A | CA364306135 | POLR1C,SLC29A1 | c.513C>A (p.Ser171Arg) n.911C>A n.931C>A c.456C>A (p.Ser152Arg) c.200C>A n.702C>A c.750C>A (p.Ser250Arg) c.639C>A (p.Ser213Arg) c.591C>A (p.Ser197Arg) c.588C>A (p.Ser196Arg) c.642C>A (p.Ser214Arg) c.753C>A (p.Ser251Arg) c.946-211485C>A (n.946-211485C>A) | |
6 | g.44230405C>G | CA364306136 | POLR1C,SLC29A1 | c.513C>G (p.Ser171Arg) n.911C>G n.931C>G c.456C>G (p.Ser152Arg) c.200C>G n.702C>G c.750C>G (p.Ser250Arg) c.639C>G (p.Ser213Arg) c.591C>G (p.Ser197Arg) c.588C>G (p.Ser196Arg) c.642C>G (p.Ser214Arg) c.753C>G (p.Ser251Arg) c.946-211485C>G (n.946-211485C>G) | |
6 | g.44230405C>T | CA450308400 | POLR1C,SLC29A1 | c.513C>T (p.Ser171=) n.911C>T n.931C>T c.456C>T (p.Ser152=) c.200C>T n.702C>T c.750C>T (p.Ser250=) c.639C>T (p.Ser213=) c.591C>T (p.Ser197=) c.588C>T (p.Ser196=) c.642C>T (p.Ser214=) c.753C>T (p.Ser251=) c.946-211485C>T (n.946-211485C>T) | |
6 | g.44230406T>A | CA364306137 | POLR1C,SLC29A1 | c.514T>A (p.Tyr172Asn) n.912T>A n.932T>A c.457T>A (p.Tyr153Asn) c.201T>A n.703T>A c.751T>A (p.Tyr251Asn) c.640T>A (p.Tyr214Asn) c.592T>A (p.Tyr198Asn) c.589T>A (p.Tyr197Asn) c.643T>A (p.Tyr215Asn) c.754T>A (p.Tyr252Asn) c.946-211484T>A (n.946-211484T>A) | |
6 | g.44230406T>C | CA3831584 | POLR1C,SLC29A1 | c.514T>C (p.Tyr172His) n.912T>C n.932T>C c.457T>C (p.Tyr153His) c.201T>C n.703T>C c.751T>C (p.Tyr251His) c.640T>C (p.Tyr214His) c.592T>C (p.Tyr198His) c.589T>C (p.Tyr197His) c.643T>C (p.Tyr215His) c.754T>C (p.Tyr252His) c.946-211484T>C (n.946-211484T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.44230406T>G | CA364306138 | POLR1C,SLC29A1 | c.514T>G (p.Tyr172Asp) n.912T>G n.932T>G c.457T>G (p.Tyr153Asp) c.201T>G n.703T>G c.751T>G (p.Tyr251Asp) c.640T>G (p.Tyr214Asp) c.592T>G (p.Tyr198Asp) c.589T>G (p.Tyr197Asp) c.643T>G (p.Tyr215Asp) c.754T>G (p.Tyr252Asp) c.946-211484T>G (n.946-211484T>G) | |
6 | g.44230406T= | CA1624908215 | POLR1C,SLC29A1 | c.514T= (p.Tyr172=) n.912T= n.932T= c.457T= (p.Tyr153=) c.201T= n.703T= c.751T= (p.Tyr251=) c.640T= (p.Tyr214=) c.592T= (p.Tyr198=) c.589T= (p.Tyr197=) c.643T= (p.Tyr215=) c.754T= (p.Tyr252=) c.946-211484T= (n.946-211484T=) | |
6 | g.44230407A>C | CA364306139 | POLR1C,SLC29A1 | c.515A>C (p.Tyr172Ser) n.913A>C n.933A>C c.458A>C (p.Tyr153Ser) c.202A>C n.704A>C c.752A>C (p.Tyr251Ser) c.641A>C (p.Tyr214Ser) c.593A>C (p.Tyr198Ser) c.590A>C (p.Tyr197Ser) c.644A>C (p.Tyr215Ser) c.755A>C (p.Tyr252Ser) c.946-211483A>C (n.946-211483A>C) | |
6 | g.44230407A>G | CA364306140 | POLR1C,SLC29A1 | c.515A>G (p.Tyr172Cys) n.913A>G n.933A>G c.458A>G (p.Tyr153Cys) c.202A>G n.704A>G c.752A>G (p.Tyr251Cys) c.641A>G (p.Tyr214Cys) c.593A>G (p.Tyr198Cys) c.590A>G (p.Tyr197Cys) c.644A>G (p.Tyr215Cys) c.755A>G (p.Tyr252Cys) c.946-211483A>G (n.946-211483A>G) | gnomAD v4 |
6 | g.44230407A>T | CA364306141 | POLR1C,SLC29A1 | c.515A>T (p.Tyr172Phe) n.913A>T n.933A>T c.458A>T (p.Tyr153Phe) c.202A>T n.704A>T c.752A>T (p.Tyr251Phe) c.641A>T (p.Tyr214Phe) c.593A>T (p.Tyr198Phe) c.590A>T (p.Tyr197Phe) c.644A>T (p.Tyr215Phe) c.755A>T (p.Tyr252Phe) c.946-211483A>T (n.946-211483A>T) | |
6 | g.44230408del | CA2770867111 | POLR1C,SLC29A1 | c.516del (p.Tyr172Ter) n.914del n.934del c.459del (p.Tyr153Ter) c.203del n.705del c.753del (p.Tyr251Ter) c.642del (p.Tyr214Ter) c.594del (p.Tyr198Ter) c.591del (p.Tyr197Ter) c.645del (p.Tyr215Ter) c.756del (p.Tyr252Ter) c.946-211482del (n.946-211482del) | |
6 | g.44230408C>A | CA364306142 | POLR1C,SLC29A1 | c.516C>A (p.Tyr172Ter) n.914C>A n.934C>A c.459C>A (p.Tyr153Ter) c.203C>A n.705C>A c.753C>A (p.Tyr251Ter) c.642C>A (p.Tyr214Ter) c.594C>A (p.Tyr198Ter) c.591C>A (p.Tyr197Ter) c.645C>A (p.Tyr215Ter) c.756C>A (p.Tyr252Ter) c.946-211482C>A (n.946-211482C>A) | |
6 | g.44230408C>G | CA364306143 | POLR1C,SLC29A1 | c.516C>G (p.Tyr172Ter) n.914C>G n.934C>G c.459C>G (p.Tyr153Ter) c.203C>G n.705C>G c.753C>G (p.Tyr251Ter) c.642C>G (p.Tyr214Ter) c.594C>G (p.Tyr198Ter) c.591C>G (p.Tyr197Ter) c.645C>G (p.Tyr215Ter) c.756C>G (p.Tyr252Ter) c.946-211482C>G (n.946-211482C>G) | |
6 | g.44230408C>T | CA450308401 | POLR1C,SLC29A1 | c.516C>T (p.Tyr172=) n.914C>T n.934C>T c.459C>T (p.Tyr153=) c.203C>T n.705C>T c.753C>T (p.Tyr251=) c.642C>T (p.Tyr214=) c.594C>T (p.Tyr198=) c.591C>T (p.Tyr197=) c.645C>T (p.Tyr215=) c.756C>T (p.Tyr252=) c.946-211482C>T (n.946-211482C>T) | gnomAD v4 |
6 | g.44230409A>C | CA364306144 | POLR1C,SLC29A1 | c.517A>C (p.Thr173Pro) n.915A>C n.935A>C c.460A>C (p.Thr154Pro) c.204A>C n.706A>C c.754A>C (p.Thr252Pro) c.643A>C (p.Thr215Pro) c.595A>C (p.Thr199Pro) c.592A>C (p.Thr198Pro) c.646A>C (p.Thr216Pro) c.757A>C (p.Thr253Pro) c.946-211481A>C (n.946-211481A>C) | |
6 | g.44230409A>G | CA364306146 | POLR1C,SLC29A1 | c.517A>G (p.Thr173Ala) n.915A>G n.935A>G c.460A>G (p.Thr154Ala) c.204A>G n.706A>G c.754A>G (p.Thr252Ala) c.643A>G (p.Thr215Ala) c.595A>G (p.Thr199Ala) c.592A>G (p.Thr198Ala) c.646A>G (p.Thr216Ala) c.757A>G (p.Thr253Ala) c.946-211481A>G (n.946-211481A>G) | |
6 | g.44230409A>T | CA364306145 | POLR1C,SLC29A1 | c.517A>T (p.Thr173Ser) n.915A>T n.935A>T c.460A>T (p.Thr154Ser) c.204A>T n.706A>T c.754A>T (p.Thr252Ser) c.643A>T (p.Thr215Ser) c.595A>T (p.Thr199Ser) c.592A>T (p.Thr198Ser) c.646A>T (p.Thr216Ser) c.757A>T (p.Thr253Ser) c.946-211481A>T (n.946-211481A>T) | |
6 | g.44230410C>A | CA364306147 | POLR1C,SLC29A1 | c.518C>A (p.Thr173Lys) n.916C>A c.461C>A (p.Thr154Lys) c.205C>A n.707C>A c.755C>A (p.Thr252Lys) c.644C>A (p.Thr215Lys) c.596C>A (p.Thr199Lys) c.593C>A (p.Thr198Lys) c.647C>A (p.Thr216Lys) c.758C>A (p.Thr253Lys) c.946-211480C>A (n.946-211480C>A) | gnomAD v4 |
6 | g.44230410C= | CA1624908218 | POLR1C,SLC29A1 | c.518C= (p.Thr173=) n.916C= c.461C= (p.Thr154=) c.205C= n.707C= c.755C= (p.Thr252=) c.644C= (p.Thr215=) c.596C= (p.Thr199=) c.593C= (p.Thr198=) c.647C= (p.Thr216=) c.758C= (p.Thr253=) c.946-211480C= (n.946-211480C=) | |
6 | g.44230410C>G | CA364306148 | POLR1C,SLC29A1 | c.518C>G (p.Thr173Arg) n.916C>G c.461C>G (p.Thr154Arg) c.205C>G n.707C>G c.755C>G (p.Thr252Arg) c.644C>G (p.Thr215Arg) c.596C>G (p.Thr199Arg) c.593C>G (p.Thr198Arg) c.647C>G (p.Thr216Arg) c.758C>G (p.Thr253Arg) c.946-211480C>G (n.946-211480C>G) | |
6 | g.44230410C>T | CA3831585 | POLR1C,SLC29A1 | c.518C>T (p.Thr173Met) n.916C>T c.461C>T (p.Thr154Met) c.205C>T n.707C>T c.755C>T (p.Thr252Met) c.644C>T (p.Thr215Met) c.596C>T (p.Thr199Met) c.593C>T (p.Thr198Met) c.647C>T (p.Thr216Met) c.758C>T (p.Thr253Met) c.946-211480C>T (n.946-211480C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
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.44230417dup | CA2832549231 | POLR1C,SLC29A1 | c.525dup (p.Ile176HisfsTer?) n.923dup c.468dup (p.Ile157HisfsTer?) c.212dup n.714dup c.762dup (p.Ile255HisfsTer?) c.651dup (p.Ile218HisfsTer?) c.603dup (p.Ile202HisfsTer?) c.600dup (p.Ile201HisfsTer?) c.654dup (p.Ile219HisfsTer?) c.765dup (p.Ile256HisfsTer?) c.946-211473dup (n.946-211473dup) | |
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) |