Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.134200642G>A | CA441361002 | PABPC4L | c.378C>T (p.Ser126=) c.552C>T (p.Ser184=) n.917C>T n.912C>T | |
4 | g.134200642G>C | CA441361003 | PABPC4L | c.378C>G (p.Ser126=) c.552C>G (p.Ser184=) n.917C>G n.912C>G | |
4 | g.134200642G>T | CA441361004 | PABPC4L | c.378C>A (p.Ser126=) c.552C>A (p.Ser184=) n.917C>A n.912C>A | |
4 | g.134200643G>A | CA358375199 | PABPC4L | c.377C>T (p.Ser126Phe) c.551C>T (p.Ser184Phe) n.916C>T n.911C>T | dbSNP gnomAD v2 COSMIC COSMIC |
4 | g.134200643G>C | CA358375201 | PABPC4L | c.377C>G (p.Ser126Cys) c.551C>G (p.Ser184Cys) n.916C>G n.911C>G | |
4 | g.134200643G= | CA1495814854 | PABPC4L | c.377C= (p.Ser126=) c.551C= (p.Ser184=) n.916C= n.911C= | |
4 | g.134200643G>T | CA358375200 | PABPC4L | c.377C>A (p.Ser126Tyr) c.551C>A (p.Ser184Tyr) n.916C>A n.911C>A | |
4 | g.134200644A>C | CA358375202 | PABPC4L | c.376T>G (p.Ser126Ala) c.550T>G (p.Ser184Ala) n.915T>G n.910T>G | |
4 | g.134200644A>G | CA358375203 | PABPC4L | c.376T>C (p.Ser126Pro) c.550T>C (p.Ser184Pro) n.915T>C n.910T>C | |
4 | g.134200644A>T | CA358375204 | PABPC4L | c.376T>A (p.Ser126Thr) c.550T>A (p.Ser184Thr) n.915T>A n.910T>A | |
4 | g.134200645A>C | CA441361007 | PABPC4L | c.375T>G (p.Leu125=) c.549T>G (p.Leu183=) n.914T>G n.909T>G | |
4 | g.134200645A>G | CA441361006 | PABPC4L | c.375T>C (p.Leu125=) c.549T>C (p.Leu183=) n.914T>C n.909T>C | |
4 | g.134200645A>T | CA441361005 | PABPC4L | c.375T>A (p.Leu125=) c.549T>A (p.Leu183=) n.914T>A n.909T>A | |
4 | g.134200646A>C | CA358375205 | PABPC4L | c.374T>G (p.Leu125Arg) c.548T>G (p.Leu183Arg) n.913T>G n.908T>G | |
4 | g.134200646A>G | CA358375206 | PABPC4L | c.374T>C (p.Leu125Pro) c.548T>C (p.Leu183Pro) n.913T>C n.908T>C | |
4 | g.134200646A>T | CA358375207 | PABPC4L | c.374T>A (p.Leu125His) c.548T>A (p.Leu183His) n.913T>A n.908T>A | |
4 | g.134200647G>A | CA358375208 | PABPC4L | c.373C>T (p.Leu125Phe) c.547C>T (p.Leu183Phe) n.912C>T n.907C>T | |
4 | g.134200647G>C | CA358375209 | PABPC4L | c.373C>G (p.Leu125Val) c.547C>G (p.Leu183Val) n.912C>G n.907C>G | gnomAD v4 |
4 | g.134200647G= | CA1495814859 | PABPC4L | c.373C= (p.Leu125=) c.547C= (p.Leu183=) n.912C= n.907C= | |
4 | g.134200647G>T | CA358375210 | PABPC4L | c.373C>A (p.Leu125Ile) c.547C>A (p.Leu183Ile) n.912C>A n.907C>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.134200648G>A | CA441361009 | PABPC4L | c.372C>T (p.Ile124=) c.546C>T (p.Ile182=) n.911C>T n.906C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.134200648G>C | CA358375211 | PABPC4L | c.372C>G (p.Ile124Met) c.546C>G (p.Ile182Met) n.911C>G n.906C>G | |
4 | g.134200648G= | CA1495814860 | PABPC4L | c.372C= (p.Ile124=) c.546C= (p.Ile182=) n.911C= n.906C= | |
4 | g.134200648G>T | CA441361008 | PABPC4L | c.372C>A (p.Ile124=) c.546C>A (p.Ile182=) n.911C>A n.906C>A | |
4 | g.134200649A>C | CA358375212 | PABPC4L | c.371T>G (p.Ile124Ser) c.545T>G (p.Ile182Ser) n.910T>G n.905T>G | |
4 | g.134200649A>G | CA358375213 | PABPC4L | c.371T>C (p.Ile124Thr) c.545T>C (p.Ile182Thr) n.910T>C n.905T>C | |
4 | g.134200649A>T | CA358375214 | PABPC4L | c.371T>A (p.Ile124Asn) c.545T>A (p.Ile182Asn) n.910T>A n.905T>A | |
4 | g.134200650T>A | CA358375217 | PABPC4L | c.370A>T (p.Ile124Phe) c.544A>T (p.Ile182Phe) n.909A>T n.904A>T | |
4 | g.134200650T>C | CA358375215 | PABPC4L | c.370A>G (p.Ile124Val) c.544A>G (p.Ile182Val) n.909A>G n.904A>G | gnomAD v4 |
4 | g.134200650T>G | CA358375216 | PABPC4L | c.370A>C (p.Ile124Leu) c.544A>C (p.Ile182Leu) n.909A>C n.904A>C | |
4 | g.134200651C>A | CA358375218 | PABPC4L | c.369G>T (p.Lys123Asn) c.543G>T (p.Lys181Asn) n.908G>T n.903G>T | |
4 | g.134200651C>G | CA358375219 | PABPC4L | c.369G>C (p.Lys123Asn) c.543G>C (p.Lys181Asn) n.908G>C n.903G>C | gnomAD v4 |
4 | g.134200651C>T | CA441361010 | PABPC4L | c.369G>A (p.Lys123=) c.543G>A (p.Lys181=) n.908G>A n.903G>A | |
4 | g.134200652T>A | CA358375220 | PABPC4L | c.368A>T (p.Lys123Met) c.542A>T (p.Lys181Met) n.907A>T n.902A>T | |
4 | g.134200652T>C | CA358375221 | PABPC4L | c.368A>G (p.Lys123Arg) c.542A>G (p.Lys181Arg) n.907A>G n.902A>G | |
4 | g.134200652T>G | CA358375222 | PABPC4L | c.368A>C (p.Lys123Thr) c.542A>C (p.Lys181Thr) n.907A>C n.902A>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.134200652T= | CA1495814862 | PABPC4L | c.368A= (p.Lys123=) c.542A= (p.Lys181=) n.907A= n.902A= | |
4 | g.134200653T>A | CA358375223 | PABPC4L | c.367A>T (p.Lys123Ter) c.541A>T (p.Lys181Ter) n.906A>T n.901A>T | |
4 | g.134200653T>C | CA358375224 | PABPC4L | c.367A>G (p.Lys123Glu) c.541A>G (p.Lys181Glu) n.906A>G n.901A>G | |
4 | g.134200653T>G | CA358375225 | PABPC4L | c.367A>C (p.Lys123Gln) c.541A>C (p.Lys181Gln) n.906A>C n.901A>C | |
4 | g.134200654T>A | CA441361011 | PABPC4L | c.366A>T (p.Gly122=) c.540A>T (p.Gly180=) n.905A>T n.900A>T | |
4 | g.134200654T>C | CA3081073 | PABPC4L | c.366A>G (p.Gly122=) c.540A>G (p.Gly180=) n.905A>G n.900A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200654T>G | CA441361012 | PABPC4L | c.366A>C (p.Gly122=) c.540A>C (p.Gly180=) n.905A>C n.900A>C | dbSNP |
4 | g.134200654T= | CA1495814865 | PABPC4L | c.366A= (p.Gly122=) c.540A= (p.Gly180=) n.905A= n.900A= | |
4 | g.134200655C>A | CA358375226 | PABPC4L | c.365G>T (p.Gly122Val) c.539G>T (p.Gly180Val) n.904G>T n.899G>T | |
4 | g.134200655C>G | CA358375227 | PABPC4L | c.365G>C (p.Gly122Ala) c.539G>C (p.Gly180Ala) n.904G>C n.899G>C | |
4 | g.134200655C>T | CA358375228 | PABPC4L | c.365G>A (p.Gly122Glu) c.539G>A (p.Gly180Glu) n.904G>A n.899G>A | |
4 | g.134200656C>A | CA358375229 | PABPC4L | c.364G>T (p.Gly122Ter) c.538G>T (p.Gly180Ter) n.903G>T n.898G>T | |
4 | g.134200656C>G | CA358375231 | PABPC4L | c.364G>C (p.Gly122Arg) c.538G>C (p.Gly180Arg) n.903G>C n.898G>C | |
4 | g.134200656C>T | CA358375230 | PABPC4L | c.364G>A (p.Gly122Arg) c.538G>A (p.Gly180Arg) n.903G>A n.898G>A | |
4 | g.134200657A>C | CA358375232 | PABPC4L | c.363T>G (p.Phe121Leu) c.537T>G (p.Phe179Leu) n.902T>G n.897T>G | |
4 | g.134200657A>G | CA441361013 | PABPC4L | c.363T>C (p.Phe121=) c.537T>C (p.Phe179=) n.902T>C n.897T>C | |
4 | g.134200657A>T | CA358375233 | PABPC4L | c.363T>A (p.Phe121Leu) c.537T>A (p.Phe179Leu) n.902T>A n.897T>A | |
4 | g.134200660del | CA2672091053 | PABPC4L | c.363del (p.Phe121LeufsTer9) c.537del (p.Phe179LeufsTer9) n.902del n.897del | gnomAD v4 |
4 | g.134200658A>C | CA358375234 | PABPC4L | c.362T>G (p.Phe121Cys) c.536T>G (p.Phe179Cys) n.901T>G n.896T>G | |
4 | g.134200658A>G | CA358375235 | PABPC4L | c.362T>C (p.Phe121Ser) c.536T>C (p.Phe179Ser) n.901T>C n.896T>C | |
4 | g.134200658A>T | CA358375236 | PABPC4L | c.362T>A (p.Phe121Tyr) c.536T>A (p.Phe179Tyr) n.901T>A n.896T>A | |
4 | g.134200659A>C | CA358375237 | PABPC4L | c.361T>G (p.Phe121Val) c.535T>G (p.Phe179Val) n.900T>G n.895T>G | |
4 | g.134200659A>G | CA358375238 | PABPC4L | c.361T>C (p.Phe121Leu) c.535T>C (p.Phe179Leu) n.900T>C n.895T>C | |
4 | g.134200659A>T | CA358375239 | PABPC4L | c.361T>A (p.Phe121Ile) c.535T>A (p.Phe179Ile) n.900T>A n.895T>A | |
4 | g.134200660A>C | CA441361014 | PABPC4L | c.360T>G (p.Ala120=) c.534T>G (p.Ala178=) n.899T>G n.894T>G | |
4 | g.134200660A>G | CA441361015 | PABPC4L | c.360T>C (p.Ala120=) c.534T>C (p.Ala178=) n.899T>C n.894T>C | |
4 | g.134200660A>T | CA441361016 | PABPC4L | c.360T>A (p.Ala120=) c.534T>A (p.Ala178=) n.899T>A n.894T>A | |
4 | g.134200661G>A | CA358375240 | PABPC4L | c.359C>T (p.Ala120Val) c.533C>T (p.Ala178Val) n.898C>T n.893C>T | |
4 | g.134200661G>C | CA358375241 | PABPC4L | c.359C>G (p.Ala120Gly) c.533C>G (p.Ala178Gly) n.898C>G n.893C>G | |
4 | g.134200661G>T | CA358375242 | PABPC4L | c.359C>A (p.Ala120Asp) c.533C>A (p.Ala178Asp) n.898C>A n.893C>A | gnomAD v4 |
4 | g.134200662del | CA2672091054 | PABPC4L | c.358del (p.Ala120LeufsTer10) c.532del (p.Ala178LeufsTer10) n.897del n.892del | gnomAD v4 |
4 | g.134200662C>A | CA358375245 | PABPC4L | c.358G>T (p.Ala120Ser) c.532G>T (p.Ala178Ser) n.897G>T n.892G>T | |
4 | g.134200662C>G | CA358375243 | PABPC4L | c.358G>C (p.Ala120Pro) c.532G>C (p.Ala178Pro) n.897G>C n.892G>C | |
4 | g.134200662C>T | CA358375244 | PABPC4L | c.358G>A (p.Ala120Thr) c.532G>A (p.Ala178Thr) n.897G>A n.892G>A | |
4 | g.134200663T>A | CA441361017 | PABPC4L | c.357A>T (p.Ser119=) c.531A>T (p.Ser177=) n.896A>T n.891A>T | |
4 | g.134200663T>C | CA441361018 | PABPC4L | c.357A>G (p.Ser119=) c.531A>G (p.Ser177=) n.896A>G n.891A>G | |
4 | g.134200663T>G | CA441361019 | PABPC4L | c.357A>C (p.Ser119=) c.531A>C (p.Ser177=) n.896A>C n.891A>C | dbSNP gnomAD v2 gnomAD v4 |
4 | g.134200663T= | CA1495814868 | PABPC4L | c.357A= (p.Ser119=) c.531A= (p.Ser177=) n.896A= n.891A= | |
4 | g.134200664G>A | CA358375246 | PABPC4L | c.356C>T (p.Ser119Leu) c.530C>T (p.Ser177Leu) n.895C>T n.890C>T | |
4 | g.134200664G>C | CA358375247 | PABPC4L | c.356C>G (p.Ser119Ter) c.530C>G (p.Ser177Ter) n.895C>G n.890C>G | |
4 | g.134200664G= | CA1495814872 | PABPC4L | c.356C= (p.Ser119=) c.530C= (p.Ser177=) n.895C= n.890C= | |
4 | g.134200664G>T | CA358375248 | PABPC4L | c.356C>A (p.Ser119Ter) c.530C>A (p.Ser177Ter) n.895C>A n.890C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.134200665A>C | CA358375249 | PABPC4L | c.355T>G (p.Ser119Ala) c.529T>G (p.Ser177Ala) n.894T>G n.889T>G | |
4 | g.134200665A>G | CA358375250 | PABPC4L | c.355T>C (p.Ser119Pro) c.529T>C (p.Ser177Pro) n.894T>C n.889T>C | gnomAD v4 |
4 | g.134200665A>T | CA358375251 | PABPC4L | c.355T>A (p.Ser119Thr) c.529T>A (p.Ser177Thr) n.894T>A n.889T>A | |
4 | g.134200669del | CA2604810259 | PABPC4L | c.355del (p.Ser119GlnfsTer11) c.529del (p.Ser177GlnfsTer11) n.894del n.889del | dbSNP gnomAD v3 gnomAD v4 |
4 | g.134200666A>C | CA358375252 | PABPC4L | c.354T>G (p.Phe118Leu) c.528T>G (p.Phe176Leu) n.893T>G n.888T>G | |
4 | g.134200666A>G | CA441361020 | PABPC4L | c.354T>C (p.Phe118=) c.528T>C (p.Phe176=) n.893T>C n.888T>C | |
4 | g.134200666A>T | CA358375253 | PABPC4L | c.354T>A (p.Phe118Leu) c.528T>A (p.Phe176Leu) n.893T>A n.888T>A | |
4 | g.134200667A>C | CA358375254 | PABPC4L | c.353T>G (p.Phe118Cys) c.527T>G (p.Phe176Cys) n.892T>G n.887T>G | |
4 | g.134200667A>G | CA358375255 | PABPC4L | c.353T>C (p.Phe118Ser) c.527T>C (p.Phe176Ser) n.892T>C n.887T>C | |
4 | g.134200667A>T | CA358375256 | PABPC4L | c.353T>A (p.Phe118Tyr) c.527T>A (p.Phe176Tyr) n.892T>A n.887T>A | |
4 | g.134200668A>C | CA358375258 | PABPC4L | c.352T>G (p.Phe118Val) c.526T>G (p.Phe176Val) n.891T>G n.886T>G | |
4 | g.134200668A>G | CA358375259 | PABPC4L | c.352T>C (p.Phe118Leu) c.526T>C (p.Phe176Leu) n.891T>C n.886T>C | |
4 | g.134200668A>T | CA358375257 | PABPC4L | c.352T>A (p.Phe118Ile) c.526T>A (p.Phe176Ile) n.891T>A n.886T>A | |
4 | g.134200669A= | CA1495814876 | PABPC4L | c.351T= (p.His117=) c.525T= (p.His175=) n.890T= n.885T= | |
4 | g.134200669A>C | CA358375261 | PABPC4L | c.351T>G (p.His117Gln) c.525T>G (p.His175Gln) n.890T>G n.885T>G | |
4 | g.134200669A>G | CA106325802 | PABPC4L | c.351T>C (p.His117=) c.525T>C (p.His175=) n.890T>C n.885T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200669A>T | CA358375260 | PABPC4L | c.351T>A (p.His117Gln) c.525T>A (p.His175Gln) n.890T>A n.885T>A | |
4 | g.134200670T>A | CA358375262 | PABPC4L | c.350A>T (p.His117Leu) c.524A>T (p.His175Leu) n.889A>T n.884A>T | |
4 | g.134200670T>C | CA358375263 | PABPC4L | c.350A>G (p.His117Arg) c.524A>G (p.His175Arg) n.889A>G n.884A>G | gnomAD v4 |
4 | g.134200670T>G | CA358375264 | PABPC4L | c.350A>C (p.His117Pro) c.524A>C (p.His175Pro) n.889A>C n.884A>C | |
4 | g.134200671G>A | CA358375265 | PABPC4L | c.349C>T (p.His117Tyr) c.523C>T (p.His175Tyr) n.888C>T n.883C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.134200671G>C | CA358375266 | PABPC4L | c.349C>G (p.His117Asp) c.523C>G (p.His175Asp) n.888C>G n.883C>G | |
4 | g.134200671G= | CA1495814879 | PABPC4L | c.349C= (p.His117=) c.523C= (p.His175=) n.888C= n.883C= | |
4 | g.134200671G>T | CA358375267 | PABPC4L | c.349C>A (p.His117Asn) c.523C>A (p.His175Asn) n.888C>A n.883C>A | gnomAD v4 |
4 | g.134200672T>A | CA358375268 | PABPC4L | c.348A>T (p.Glu116Asp) c.522A>T (p.Glu174Asp) n.887A>T n.882A>T | |
4 | g.134200672T>C | CA441361021 | PABPC4L | c.348A>G (p.Glu116=) c.522A>G (p.Glu174=) n.887A>G n.882A>G | |
4 | g.134200672T>G | CA358375269 | PABPC4L | c.348A>C (p.Glu116Asp) c.522A>C (p.Glu174Asp) n.887A>C n.882A>C | |
4 | g.134200673T>A | CA358375270 | PABPC4L | c.347A>T (p.Glu116Val) c.521A>T (p.Glu174Val) n.886A>T n.881A>T | |
4 | g.134200673T>C | CA358375271 | PABPC4L | c.347A>G (p.Glu116Gly) c.521A>G (p.Glu174Gly) n.886A>G n.881A>G | |
4 | g.134200673T>G | CA358375272 | PABPC4L | c.347A>C (p.Glu116Ala) c.521A>C (p.Glu174Ala) n.886A>C n.881A>C | |
4 | g.134200674C>A | CA358375275 | PABPC4L | c.346G>T (p.Glu116Ter) c.520G>T (p.Glu174Ter) n.885G>T n.880G>T | |
4 | g.134200674C= | CA1495814882 | PABPC4L | c.346G= (p.Glu116=) c.520G= (p.Glu174=) n.885G= n.880G= | |
4 | g.134200674C>G | CA358375273 | PABPC4L | c.346G>C (p.Glu116Gln) c.520G>C (p.Glu174Gln) n.885G>C n.880G>C | |
4 | g.134200674C>T | CA358375274 | PABPC4L | c.346G>A (p.Glu116Lys) c.520G>A (p.Glu174Lys) n.885G>A n.880G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.134200675A= | CA1495814884 | PABPC4L | c.345T= (p.Tyr115=) c.519T= (p.Tyr173=) n.884T= n.879T= | |
4 | g.134200675A>C | CA358375276 | PABPC4L | c.345T>G (p.Tyr115Ter) c.519T>G (p.Tyr173Ter) n.884T>G n.879T>G | |
4 | g.134200675A>G | CA441361022 | PABPC4L | c.345T>C (p.Tyr115=) c.519T>C (p.Tyr173=) n.884T>C n.879T>C | dbSNP |
4 | g.134200675A>T | CA358375277 | PABPC4L | c.345T>A (p.Tyr115Ter) c.519T>A (p.Tyr173Ter) n.884T>A n.879T>A | |
4 | g.134200676T>A | CA358375278 | PABPC4L | c.344A>T (p.Tyr115Phe) c.518A>T (p.Tyr173Phe) n.883A>T n.878A>T | |
4 | g.134200676T>C | CA358375279 | PABPC4L | c.344A>G (p.Tyr115Cys) c.518A>G (p.Tyr173Cys) n.883A>G n.878A>G | gnomAD v4 |
4 | g.134200676T>G | CA358375280 | PABPC4L | c.344A>C (p.Tyr115Ser) c.518A>C (p.Tyr173Ser) n.883A>C n.878A>C | |
4 | g.134200677A>C | CA358375281 | PABPC4L | c.343T>G (p.Tyr115Asp) c.517T>G (p.Tyr173Asp) n.882T>G n.877T>G | gnomAD v4 |
4 | g.134200677A>G | CA358375282 | PABPC4L | c.343T>C (p.Tyr115His) c.517T>C (p.Tyr173His) n.882T>C n.877T>C | |
4 | g.134200677A>T | CA358375283 | PABPC4L | c.343T>A (p.Tyr115Asn) c.517T>A (p.Tyr173Asn) n.882T>A n.877T>A | |
4 | g.134200678A>C | CA441361025 | PABPC4L | c.342T>G (p.Leu114=) c.516T>G (p.Leu172=) n.881T>G n.876T>G | |
4 | g.134200678A>G | CA441361024 | PABPC4L | c.342T>C (p.Leu114=) c.516T>C (p.Leu172=) n.881T>C n.876T>C | gnomAD v4 |
4 | g.134200678A>T | CA441361023 | PABPC4L | c.342T>A (p.Leu114=) c.516T>A (p.Leu172=) n.881T>A n.876T>A | |
4 | g.134200679A>C | CA358375284 | PABPC4L | c.341T>G (p.Leu114Arg) c.515T>G (p.Leu172Arg) n.880T>G n.875T>G | |
4 | g.134200679A>G | CA358375285 | PABPC4L | c.341T>C (p.Leu114Pro) c.515T>C (p.Leu172Pro) n.880T>C n.875T>C | |
4 | g.134200679A>T | CA358375286 | PABPC4L | c.341T>A (p.Leu114His) c.515T>A (p.Leu172His) n.880T>A n.875T>A | |
4 | g.134200680G>A | CA358375288 | PABPC4L | c.340C>T (p.Leu114Phe) c.514C>T (p.Leu172Phe) n.879C>T n.874C>T | |
4 | g.134200680G>C | CA358375289 | PABPC4L | c.340C>G (p.Leu114Val) c.514C>G (p.Leu172Val) n.879C>G n.874C>G | gnomAD v4 |
4 | g.134200680G>T | CA358375287 | PABPC4L | c.340C>A (p.Leu114Ile) c.514C>A (p.Leu172Ile) n.879C>A n.874C>A | |
4 | g.134200681G>A | CA441361026 | PABPC4L | c.339C>T (p.Thr113=) c.513C>T (p.Thr171=) n.878C>T n.873C>T | gnomAD v4 |
4 | g.134200681G>C | CA106325804 | PABPC4L | c.339C>G (p.Thr113=) c.513C>G (p.Thr171=) n.878C>G n.873C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200681G= | CA1495814887 | PABPC4L | c.339C= (p.Thr113=) c.513C= (p.Thr171=) n.878C= n.873C= | |
4 | g.134200681G>T | CA106325806 | PABPC4L | c.339C>A (p.Thr113=) c.513C>A (p.Thr171=) n.878C>A n.873C>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.134200682G>A | CA358375290 | PABPC4L | c.338C>T (p.Thr113Ile) c.512C>T (p.Thr171Ile) n.877C>T n.872C>T | gnomAD v4 |
4 | g.134200682G>C | CA358375291 | PABPC4L | c.338C>G (p.Thr113Ser) c.512C>G (p.Thr171Ser) n.877C>G n.872C>G | |
4 | g.134200682G>T | CA358375292 | PABPC4L | c.338C>A (p.Thr113Asn) c.512C>A (p.Thr171Asn) n.877C>A n.872C>A | |
4 | g.134200683T>A | CA358375293 | PABPC4L | c.337A>T (p.Thr113Ser) c.511A>T (p.Thr171Ser) n.876A>T n.871A>T | gnomAD v4 |
4 | g.134200683T>C | CA358375294 | PABPC4L | c.337A>G (p.Thr113Ala) c.511A>G (p.Thr171Ala) n.876A>G n.871A>G | |
4 | g.134200683T>G | CA358375295 | PABPC4L | c.337A>C (p.Thr113Pro) c.511A>C (p.Thr171Pro) n.876A>C n.871A>C | |
4 | g.134200686dup | CA645514504 | PABPC4L | c.337dup (p.Thr113AsnfsTer4) c.511dup (p.Thr171AsnfsTer4) n.876dup n.871dup | COSMIC COSMIC |
4 | g.134200684T>A | CA358375296 | PABPC4L | c.336A>T (p.Lys112Asn) c.510A>T (p.Lys170Asn) n.875A>T n.870A>T | |
4 | g.134200684T>C | CA441361027 | PABPC4L | c.336A>G (p.Lys112=) c.510A>G (p.Lys170=) n.875A>G n.870A>G | |
4 | g.134200684T>G | CA358375297 | PABPC4L | c.336A>C (p.Lys112Asn) c.510A>C (p.Lys170Asn) n.875A>C n.870A>C | |
4 | g.134200685T>A | CA358375298 | PABPC4L | c.335A>T (p.Lys112Ile) c.509A>T (p.Lys170Ile) n.874A>T n.869A>T | |
4 | g.134200685T>C | CA358375299 | PABPC4L | c.335A>G (p.Lys112Arg) c.509A>G (p.Lys170Arg) n.874A>G n.869A>G | gnomAD v4 |
4 | g.134200685T>G | CA358375300 | PABPC4L | c.335A>C (p.Lys112Thr) c.509A>C (p.Lys170Thr) n.874A>C n.869A>C | |
4 | g.134200686T>A | CA358375302 | PABPC4L | c.334A>T (p.Lys112Ter) c.508A>T (p.Lys170Ter) n.873A>T n.868A>T | |
4 | g.134200686T>C | CA358375303 | PABPC4L | c.334A>G (p.Lys112Glu) c.508A>G (p.Lys170Glu) n.873A>G n.868A>G | |
4 | g.134200686T>G | CA358375301 | PABPC4L | c.334A>C (p.Lys112Gln) c.508A>C (p.Lys170Gln) n.873A>C n.868A>C | |
4 | g.134200687G>A | CA106325808 | PABPC4L | c.333C>T (p.Asn111=) c.507C>T (p.Asn169=) n.872C>T n.867C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200687G>C | CA358375304 | PABPC4L | c.333C>G (p.Asn111Lys) c.507C>G (p.Asn169Lys) n.872C>G n.867C>G | |
4 | g.134200687G= | CA1495814890 | PABPC4L | c.333C= (p.Asn111=) c.507C= (p.Asn169=) n.872C= n.867C= | |
4 | g.134200687G>T | CA358375305 | PABPC4L | c.333C>A (p.Asn111Lys) c.507C>A (p.Asn169Lys) n.872C>A n.867C>A | |
4 | g.134200688T>A | CA358375306 | PABPC4L | c.332A>T (p.Asn111Ile) c.506A>T (p.Asn169Ile) n.871A>T n.866A>T | |
4 | g.134200688T>C | CA358375307 | PABPC4L | c.332A>G (p.Asn111Ser) c.506A>G (p.Asn169Ser) n.871A>G n.866A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200688T>G | CA358375308 | PABPC4L | c.332A>C (p.Asn111Thr) c.506A>C (p.Asn169Thr) n.871A>C n.866A>C | |
4 | g.134200688T= | CA1495814895 | PABPC4L | c.332A= (p.Asn111=) c.506A= (p.Asn169=) n.871A= n.866A= | |
4 | g.134200689T>A | CA358375311 | PABPC4L | c.331A>T (p.Asn111Tyr) c.505A>T (p.Asn169Tyr) n.870A>T n.865A>T | |
4 | g.134200689T>C | CA358375309 | PABPC4L | c.331A>G (p.Asn111Asp) c.505A>G (p.Asn169Asp) n.870A>G n.865A>G | |
4 | g.134200689T>G | CA358375310 | PABPC4L | c.331A>C (p.Asn111His) c.505A>C (p.Asn169His) n.870A>C n.865A>C | |
4 | g.134200690A>C | CA358375312 | PABPC4L | c.330T>G (p.Asp110Glu) c.504T>G (p.Asp168Glu) n.869T>G n.864T>G | |
4 | g.134200690A>G | CA441361028 | PABPC4L | c.330T>C (p.Asp110=) c.504T>C (p.Asp168=) n.869T>C n.864T>C | |
4 | g.134200690A>T | CA358375313 | PABPC4L | c.330T>A (p.Asp110Glu) c.504T>A (p.Asp168Glu) n.869T>A n.864T>A | |
4 | g.134200691T>A | CA358375314 | PABPC4L | c.329A>T (p.Asp110Val) c.503A>T (p.Asp168Val) n.868A>T n.863A>T | |
4 | g.134200691T>C | CA358375315 | PABPC4L | c.329A>G (p.Asp110Gly) c.503A>G (p.Asp168Gly) n.868A>G n.863A>G | |
4 | g.134200691T>G | CA358375316 | PABPC4L | c.329A>C (p.Asp110Ala) c.503A>C (p.Asp168Ala) n.868A>C n.863A>C | |
4 | g.134200692C>A | CA3081074 | PABPC4L | c.328G>T (p.Asp110Tyr) c.502G>T (p.Asp168Tyr) n.867G>T n.862G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200692C= | CA1495814899 | PABPC4L | c.328G= (p.Asp110=) c.502G= (p.Asp168=) n.867G= n.862G= | |
4 | g.134200692C>G | CA358375318 | PABPC4L | c.328G>C (p.Asp110His) c.502G>C (p.Asp168His) n.867G>C n.862G>C | gnomAD v4 |
4 | g.134200692C>T | CA358375317 | PABPC4L | c.328G>A (p.Asp110Asn) c.502G>A (p.Asp168Asn) n.867G>A n.862G>A | dbSNP gnomAD v4 |
4 | g.134200693G>A | CA441361029 | PABPC4L | c.327C>T (p.Ile109=) c.501C>T (p.Ile167=) n.866C>T n.861C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200693G>C | CA358375319 | PABPC4L | c.327C>G (p.Ile109Met) c.501C>G (p.Ile167Met) n.866C>G n.861C>G | gnomAD v4 |
4 | g.134200693G= | CA1495814906 | PABPC4L | c.327C= (p.Ile109=) c.501C= (p.Ile167=) n.866C= n.861C= | |
4 | g.134200693G>T | CA441361030 | PABPC4L | c.327C>A (p.Ile109=) c.501C>A (p.Ile167=) n.866C>A n.861C>A | dbSNP gnomAD v4 |
4 | g.134200694A>C | CA358375322 | PABPC4L | c.326T>G (p.Ile109Ser) c.500T>G (p.Ile167Ser) n.865T>G n.860T>G | |
4 | g.134200694A>G | CA358375320 | PABPC4L | c.326T>C (p.Ile109Thr) c.500T>C (p.Ile167Thr) n.865T>C n.860T>C | |
4 | g.134200694A>T | CA358375321 | PABPC4L | c.326T>A (p.Ile109Asn) c.500T>A (p.Ile167Asn) n.865T>A n.860T>A | |
4 | g.134200695T>A | CA358375323 | PABPC4L | c.325A>T (p.Ile109Phe) c.499A>T (p.Ile167Phe) n.864A>T n.859A>T | |
4 | g.134200695T>C | CA106325811 | PABPC4L | c.325A>G (p.Ile109Val) c.499A>G (p.Ile167Val) n.864A>G n.859A>G | dbSNP gnomAD v2 gnomAD v4 |
4 | g.134200695T>G | CA358375324 | PABPC4L | c.325A>C (p.Ile109Leu) c.499A>C (p.Ile167Leu) n.864A>C n.859A>C | |
4 | g.134200695T= | CA1495814912 | PABPC4L | c.325A= (p.Ile109=) c.499A= (p.Ile167=) n.864A= n.859A= | |
4 | g.134200696A>C | CA441362009 | PABPC4L | c.324T>G (p.Ser108=) c.498T>G (p.Ser166=) n.863T>G n.858T>G | |
4 | g.134200696A>G | CA441362010 | PABPC4L | c.324T>C (p.Ser108=) c.498T>C (p.Ser166=) n.863T>C n.858T>C | |
4 | g.134200696A>T | CA441362011 | PABPC4L | c.324T>A (p.Ser108=) c.498T>A (p.Ser166=) n.863T>A n.858T>A | |
4 | g.134200697G>A | CA358375325 | PABPC4L | c.323C>T (p.Ser108Phe) c.497C>T (p.Ser166Phe) n.862C>T n.857C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.134200697G>C | CA358375326 | PABPC4L | c.323C>G (p.Ser108Cys) c.497C>G (p.Ser166Cys) n.862C>G n.857C>G | |
4 | g.134200697G= | CA1495814916 | PABPC4L | c.323C= (p.Ser108=) c.497C= (p.Ser166=) n.862C= n.857C= | |
4 | g.134200697G>T | CA358375327 | PABPC4L | c.323C>A (p.Ser108Tyr) c.497C>A (p.Ser166Tyr) n.862C>A n.857C>A | |
4 | g.134200698A>C | CA358375328 | PABPC4L | c.322T>G (p.Ser108Ala) c.496T>G (p.Ser166Ala) n.861T>G n.856T>G | |
4 | g.134200698A>G | CA358375329 | PABPC4L | c.322T>C (p.Ser108Pro) c.496T>C (p.Ser166Pro) n.861T>C n.856T>C | |
4 | g.134200698A>T | CA358375330 | PABPC4L | c.322T>A (p.Ser108Thr) c.496T>A (p.Ser166Thr) n.861T>A n.856T>A | |
4 | g.134200699T>A | CA358375331 | PABPC4L | c.321A>T (p.Lys107Asn) c.495A>T (p.Lys165Asn) n.860A>T n.855A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200699T>C | CA441362013 | PABPC4L | c.321A>G (p.Lys107=) c.495A>G (p.Lys165=) n.860A>G n.855A>G | |
4 | g.134200699T>G | CA358375332 | PABPC4L | c.321A>C (p.Lys107Asn) c.495A>C (p.Lys165Asn) n.860A>C n.855A>C | gnomAD v4 |
4 | g.134200699T= | CA1495814920 | PABPC4L | c.321A= (p.Lys107=) c.495A= (p.Lys165=) n.860A= n.855A= | |
4 | g.134200700T>A | CA358375333 | PABPC4L | c.320A>T (p.Lys107Ile) c.494A>T (p.Lys165Ile) n.859A>T n.854A>T | |
4 | g.134200700T>C | CA358375335 | PABPC4L | c.320A>G (p.Lys107Arg) c.494A>G (p.Lys165Arg) n.859A>G n.854A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200700T>G | CA358375334 | PABPC4L | c.320A>C (p.Lys107Thr) c.494A>C (p.Lys165Thr) n.859A>C n.854A>C | |
4 | g.134200700T= | CA1495814924 | PABPC4L | c.320A= (p.Lys107=) c.494A= (p.Lys165=) n.859A= n.854A= | |
4 | g.134200701T>A | CA358375336 | PABPC4L | c.319A>T (p.Lys107Ter) c.493A>T (p.Lys165Ter) n.858A>T n.853A>T | |
4 | g.134200701T>C | CA358375337 | PABPC4L | c.319A>G (p.Lys107Glu) c.493A>G (p.Lys165Glu) n.858A>G n.853A>G | |
4 | g.134200701T>G | CA358375338 | PABPC4L | c.319A>C (p.Lys107Gln) c.493A>C (p.Lys165Gln) n.858A>C n.853A>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.134200701T= | CA1495814928 | PABPC4L | c.319A= (p.Lys107=) c.493A= (p.Lys165=) n.858A= n.853A= | |
4 | g.134200702G>A | CA441362014 | PABPC4L | c.318C>T (p.Asp106=) c.492C>T (p.Asp164=) n.857C>T n.852C>T | |
4 | g.134200702G>C | CA358375339 | PABPC4L | c.318C>G (p.Asp106Glu) c.492C>G (p.Asp164Glu) n.857C>G n.852C>G | |
4 | g.134200702G>T | CA358375340 | PABPC4L | c.318C>A (p.Asp106Glu) c.492C>A (p.Asp164Glu) n.857C>A n.852C>A | |
4 | g.134200703T>A | CA358375341 | PABPC4L | c.317A>T (p.Asp106Val) c.491A>T (p.Asp164Val) n.856A>T n.851A>T | |
4 | g.134200703T>C | CA358375342 | PABPC4L | c.317A>G (p.Asp106Gly) c.491A>G (p.Asp164Gly) n.856A>G n.851A>G | |
4 | g.134200703T>G | CA358375343 | PABPC4L | c.317A>C (p.Asp106Ala) c.491A>C (p.Asp164Ala) n.856A>C n.851A>C | |
4 | g.134200704C>A | CA358375344 | PABPC4L | c.316G>T (p.Asp106Tyr) c.490G>T (p.Asp164Tyr) n.855G>T n.850G>T | dbSNP |
4 | g.134200704C= | CA1495814929 | PABPC4L | c.316G= (p.Asp106=) c.490G= (p.Asp164=) n.855G= n.850G= | |
4 | g.134200704C>G | CA358375345 | PABPC4L | c.316G>C (p.Asp106His) c.490G>C (p.Asp164His) n.855G>C n.850G>C | |
4 | g.134200704C>T | CA358375346 | PABPC4L | c.316G>A (p.Asp106Asn) c.490G>A (p.Asp164Asn) n.855G>A n.850G>A | |
4 | g.134200705C>A | CA441362015 | PABPC4L | c.315G>T (p.Leu105=) c.489G>T (p.Leu163=) n.854G>T n.849G>T | |
4 | g.134200705C>G | CA441362016 | PABPC4L | c.315G>C (p.Leu105=) c.489G>C (p.Leu163=) n.854G>C n.849G>C | |
4 | g.134200705C>T | CA441362017 | PABPC4L | c.315G>A (p.Leu105=) c.489G>A (p.Leu163=) n.854G>A n.849G>A | |
4 | g.134200706A>C | CA358375349 | PABPC4L | c.314T>G (p.Leu105Arg) c.488T>G (p.Leu163Arg) n.853T>G n.848T>G | gnomAD v4 |
4 | g.134200706A>G | CA358375348 | PABPC4L | c.314T>C (p.Leu105Pro) c.488T>C (p.Leu163Pro) n.853T>C n.848T>C | |
4 | g.134200706A>T | CA358375347 | PABPC4L | c.314T>A (p.Leu105Gln) c.488T>A (p.Leu163Gln) n.853T>A n.848T>A | |
4 | g.134200707G>A | CA441362018 | PABPC4L | c.313C>T (p.Leu105=) c.487C>T (p.Leu163=) n.852C>T n.847C>T | |
4 | g.134200707G>C | CA358375351 | PABPC4L | c.313C>G (p.Leu105Val) c.487C>G (p.Leu163Val) n.852C>G n.847C>G | |
4 | g.134200707G= | CA1495814932 | PABPC4L | c.313C= (p.Leu105=) c.487C= (p.Leu163=) n.852C= n.847C= | |
4 | g.134200707G>T | CA358375350 | PABPC4L | c.313C>A (p.Leu105Met) c.487C>A (p.Leu163Met) n.852C>A n.847C>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.134200708A>C | CA358375352 | PABPC4L | c.312T>G (p.Asn104Lys) c.486T>G (p.Asn162Lys) n.851T>G n.846T>G | |
4 | g.134200708A>G | CA441362019 | PABPC4L | c.312T>C (p.Asn104=) c.486T>C (p.Asn162=) n.851T>C n.846T>C | |
4 | g.134200708A>T | CA358375353 | PABPC4L | c.312T>A (p.Asn104Lys) c.486T>A (p.Asn162Lys) n.851T>A n.846T>A | |
4 | g.134200710_134200711insTGTCCGTATT | CA2763628674 | PABPC4L | c.312_313insACGGACAAAT (p.Leu105ThrfsTer10) c.486_487insACGGACAAAT (p.Leu163ThrfsTer10) n.851_852insACGGACAAAT n.846_847insACGGACAAAT | |
4 | g.134200709T>A | CA358375354 | PABPC4L | c.311A>T (p.Asn104Ile) c.485A>T (p.Asn162Ile) n.850A>T n.845A>T | |
4 | g.134200709T>C | CA358375355 | PABPC4L | c.311A>G (p.Asn104Ser) c.485A>G (p.Asn162Ser) n.850A>G n.845A>G | |
4 | g.134200709T>G | CA358375356 | PABPC4L | c.311A>C (p.Asn104Thr) c.485A>C (p.Asn162Thr) n.850A>C n.845A>C | |
4 | g.134200710T>A | CA358375359 | PABPC4L | c.310A>T (p.Asn104Tyr) c.484A>T (p.Asn162Tyr) n.849A>T n.844A>T | |
4 | g.134200710T>C | CA358375357 | PABPC4L | c.310A>G (p.Asn104Asp) c.484A>G (p.Asn162Asp) n.849A>G n.844A>G | |
4 | g.134200710T>G | CA358375358 | PABPC4L | c.310A>C (p.Asn104His) c.484A>C (p.Asn162His) n.849A>C n.844A>C | |
4 | g.134200711C>A | CA358375360 | PABPC4L | c.309G>T (p.Lys103Asn) c.483G>T (p.Lys161Asn) n.848G>T n.843G>T | COSMIC COSMIC |
4 | g.134200711C= | CA1495814935 | PABPC4L | c.309G= (p.Lys103=) c.483G= (p.Lys161=) n.848G= n.843G= | |
4 | g.134200711C>G | CA358375361 | PABPC4L | c.309G>C (p.Lys103Asn) c.483G>C (p.Lys161Asn) n.848G>C n.843G>C | dbSNP gnomAD v4 |
4 | g.134200711C>T | CA441362020 | PABPC4L | c.309G>A (p.Lys103=) c.483G>A (p.Lys161=) n.848G>A n.843G>A | |
4 | g.134200712T>A | CA106325813 | PABPC4L | c.308A>T (p.Lys103Met) c.482A>T (p.Lys161Met) n.847A>T n.842A>T | dbSNP |
4 | g.134200712T>C | CA358375362 | PABPC4L | c.308A>G (p.Lys103Arg) c.482A>G (p.Lys161Arg) n.847A>G n.842A>G | |
4 | g.134200712T>G | CA358375363 | PABPC4L | c.308A>C (p.Lys103Thr) c.482A>C (p.Lys161Thr) n.847A>C n.842A>C | |
4 | g.134200712T= | CA1495814938 | PABPC4L | c.308A= (p.Lys103=) c.482A= (p.Lys161=) n.847A= n.842A= | |
4 | g.134200713T>A | CA358375364 | PABPC4L | c.307A>T (p.Lys103Ter) c.481A>T (p.Lys161Ter) n.846A>T n.841A>T | |
4 | g.134200713T>C | CA358375366 | PABPC4L | c.307A>G (p.Lys103Glu) c.481A>G (p.Lys161Glu) n.846A>G n.841A>G | |
4 | g.134200713T>G | CA358375365 | PABPC4L | c.307A>C (p.Lys103Gln) c.481A>C (p.Lys161Gln) n.846A>C n.841A>C | |
4 | g.134200714G>A | CA441362021 | PABPC4L | c.306C>T (p.Ile102=) c.480C>T (p.Ile160=) n.845C>T n.840C>T | |
4 | g.134200714G>C | CA358375367 | PABPC4L | c.306C>G (p.Ile102Met) c.480C>G (p.Ile160Met) n.845C>G n.840C>G | |
4 | g.134200714G= | CA1495814941 | PABPC4L | c.306C= (p.Ile102=) c.480C= (p.Ile160=) n.845C= n.840C= | |
4 | g.134200714G>T | CA441362022 | PABPC4L | c.306C>A (p.Ile102=) c.480C>A (p.Ile160=) n.845C>A n.840C>A | |
4 | g.134200715A>C | CA358375368 | PABPC4L | c.305T>G (p.Ile102Ser) c.479T>G (p.Ile160Ser) n.844T>G n.839T>G | |
4 | g.134200715A>G | CA358375369 | PABPC4L | c.305T>C (p.Ile102Thr) c.479T>C (p.Ile160Thr) n.844T>C n.839T>C | |
4 | g.134200715A>T | CA358375370 | PABPC4L | c.305T>A (p.Ile102Asn) c.479T>A (p.Ile160Asn) n.844T>A n.839T>A | |
4 | g.134200715dup | CA555019085 | PABPC4L | c.305dup (p.Lys103GlnfsTer9) c.479dup (p.Lys161GlnfsTer9) n.844dup n.839dup | dbSNP gnomAD v2 gnomAD v4 |
4 | g.134200716T>A | CA358375371 | PABPC4L | c.304A>T (p.Ile102Phe) c.478A>T (p.Ile160Phe) n.843A>T n.838A>T | |
4 | g.134200716T>C | CA358375372 | PABPC4L | c.304A>G (p.Ile102Val) c.478A>G (p.Ile160Val) n.843A>G n.838A>G | dbSNP gnomAD v2 gnomAD v4 |
4 | g.134200716T>G | CA358375373 | PABPC4L | c.304A>C (p.Ile102Leu) c.478A>C (p.Ile160Leu) n.843A>C n.838A>C | |
4 | g.134200716T= | CA1495814947 | PABPC4L | c.304A= (p.Ile102=) c.478A= (p.Ile160=) n.843A= n.838A= | |
4 | g.134200717G>A | CA441362023 | PABPC4L | c.303C>T (p.Phe101=) c.477C>T (p.Phe159=) n.842C>T n.837C>T | |
4 | g.134200717G>C | CA358375374 | PABPC4L | c.303C>G (p.Phe101Leu) c.477C>G (p.Phe159Leu) n.842C>G n.837C>G | |
4 | g.134200717G>T | CA358375375 | PABPC4L | c.303C>A (p.Phe101Leu) c.477C>A (p.Phe159Leu) n.842C>A n.837C>A | |
4 | g.134200718A>C | CA358375376 | PABPC4L | c.302T>G (p.Phe101Cys) c.476T>G (p.Phe159Cys) n.841T>G n.836T>G | |
4 | g.134200718A>G | CA358375377 | PABPC4L | c.302T>C (p.Phe101Ser) c.476T>C (p.Phe159Ser) n.841T>C n.836T>C | |
4 | g.134200718A>T | CA358375378 | PABPC4L | c.302T>A (p.Phe101Tyr) c.476T>A (p.Phe159Tyr) n.841T>A n.836T>A | |
4 | g.134200719A>C | CA358375380 | PABPC4L | c.301T>G (p.Phe101Val) c.475T>G (p.Phe159Val) n.840T>G n.835T>G | |
4 | g.134200719A>G | CA358375381 | PABPC4L | c.301T>C (p.Phe101Leu) c.475T>C (p.Phe159Leu) n.840T>C n.835T>C | COSMIC COSMIC |
4 | g.134200719A>T | CA358375379 | PABPC4L | c.301T>A (p.Phe101Ile) c.475T>A (p.Phe159Ile) n.840T>A n.835T>A | |
4 | g.134200720T>A | CA441362026 | PABPC4L | c.300A>T (p.Val100=) c.474A>T (p.Val158=) n.839A>T n.834A>T | |
4 | g.134200720T>C | CA441362025 | PABPC4L | c.300A>G (p.Val100=) c.474A>G (p.Val158=) n.839A>G n.834A>G | gnomAD v4 |
4 | g.134200720T>G | CA441362024 | PABPC4L | c.300A>C (p.Val100=) c.474A>C (p.Val158=) n.839A>C n.834A>C | |
4 | g.134200721A= | CA1495814949 | PABPC4L | c.299T= (p.Val100=) c.473T= (p.Val158=) n.838T= n.833T= | |
4 | g.134200721A>C | CA358375382 | PABPC4L | c.299T>G (p.Val100Gly) c.473T>G (p.Val158Gly) n.838T>G n.833T>G | |
4 | g.134200721A>G | CA3081075 | PABPC4L | c.299T>C (p.Val100Ala) c.473T>C (p.Val158Ala) n.838T>C n.833T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200721A>T | CA358375383 | PABPC4L | c.299T>A (p.Val100Glu) c.473T>A (p.Val158Glu) n.838T>A n.833T>A | |
4 | g.134200722C>A | CA358375384 | PABPC4L | c.298G>T (p.Val100Leu) c.472G>T (p.Val158Leu) n.837G>T n.832G>T | |
4 | g.134200722C= | CA1495814955 | PABPC4L | c.298G= (p.Val100=) c.472G= (p.Val158=) n.837G= n.832G= | |
4 | g.134200722C>G | CA358375385 | PABPC4L | c.298G>C (p.Val100Leu) c.472G>C (p.Val158Leu) n.837G>C n.832G>C | |
4 | g.134200722C>T | CA106325816 | PABPC4L | c.298G>A (p.Val100Ile) c.472G>A (p.Val158Ile) n.837G>A n.832G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.134200723G>A | CA441362027 | PABPC4L | c.297C>T (p.Asn99=) c.471C>T (p.Asn157=) n.836C>T n.831C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200723G>C | CA358375386 | PABPC4L | c.297C>G (p.Asn99Lys) c.471C>G (p.Asn157Lys) n.836C>G n.831C>G | dbSNP gnomAD v4 |
4 | g.134200723G= | CA1495814962 | PABPC4L | c.297C= (p.Asn99=) c.471C= (p.Asn157=) n.836C= n.831C= | |
4 | g.134200723G>T | CA358375387 | PABPC4L | c.297C>A (p.Asn99Lys) c.471C>A (p.Asn157Lys) n.836C>A n.831C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200724T>A | CA358375388 | PABPC4L | c.296A>T (p.Asn99Ile) c.470A>T (p.Asn157Ile) n.835A>T n.830A>T | |
4 | g.134200724T>C | CA358375389 | PABPC4L | c.296A>G (p.Asn99Ser) c.470A>G (p.Asn157Ser) n.835A>G n.830A>G | |
4 | g.134200724T>G | CA358375390 | PABPC4L | c.296A>C (p.Asn99Thr) c.470A>C (p.Asn157Thr) n.835A>C n.830A>C | |
4 | g.134200725T>A | CA358375391 | PABPC4L | c.295A>T (p.Asn99Tyr) c.469A>T (p.Asn157Tyr) n.834A>T n.829A>T | |
4 | g.134200725T>C | CA358375392 | PABPC4L | c.295A>G (p.Asn99Asp) c.469A>G (p.Asn157Asp) n.834A>G n.829A>G | COSMIC COSMIC |
4 | g.134200725T>G | CA358375393 | PABPC4L | c.295A>C (p.Asn99His) c.469A>C (p.Asn157His) n.834A>C n.829A>C | |
4 | g.134200726C>A | CA441362028 | PABPC4L | c.294G>T (p.Gly98=) c.468G>T (p.Gly156=) n.833G>T n.828G>T | dbSNP gnomAD v4 |
4 | g.134200726C>G | CA441362029 | PABPC4L | c.294G>C (p.Gly98=) c.468G>C (p.Gly156=) n.833G>C n.828G>C | |
4 | g.134200726C>T | CA441362030 | PABPC4L | c.294G>A (p.Gly98=) c.468G>A (p.Gly156=) n.833G>A n.828G>A | |
4 | g.134200728del | CA2763628675 | PABPC4L | c.294del (p.Asn99ThrfsTer?) c.468del (p.Asn157ThrfsTer?) n.833del n.828del | |
4 | g.134200727C>A | CA358375396 | PABPC4L | c.293G>T (p.Gly98Val) c.467G>T (p.Gly156Val) n.832G>T n.827G>T | |
4 | g.134200727C>G | CA358375394 | PABPC4L | c.293G>C (p.Gly98Ala) c.467G>C (p.Gly156Ala) n.832G>C n.827G>C | |
4 | g.134200727C>T | CA358375395 | PABPC4L | c.293G>A (p.Gly98Glu) c.467G>A (p.Gly156Glu) n.832G>A n.827G>A | |
4 | g.134200728C>A | CA358375397 | PABPC4L | c.292G>T (p.Gly98Trp) c.466G>T (p.Gly156Trp) n.831G>T n.826G>T | |
4 | g.134200728C>G | CA358375398 | PABPC4L | c.292G>C (p.Gly98Arg) c.466G>C (p.Gly156Arg) n.831G>C n.826G>C | |
4 | g.134200728C>T | CA358375399 | PABPC4L | c.292G>A (p.Gly98Arg) c.466G>A (p.Gly156Arg) n.831G>A n.826G>A | dbSNP |
4 | g.134200729A>C | CA358375400 | PABPC4L | c.291T>G (p.Ile97Met) c.465T>G (p.Ile155Met) n.830T>G n.825T>G | |
4 | g.134200729A>G | CA441362031 | PABPC4L | c.291T>C (p.Ile97=) c.465T>C (p.Ile155=) n.830T>C n.825T>C | |
4 | g.134200729A>T | CA441362032 | PABPC4L | c.291T>A (p.Ile97=) c.465T>A (p.Ile155=) n.830T>A n.825T>A | gnomAD v4 |
4 | g.134200730A>C | CA358375401 | PABPC4L | c.290T>G (p.Ile97Ser) c.464T>G (p.Ile155Ser) n.829T>G n.824T>G | |
4 | g.134200730A>G | CA358375402 | PABPC4L | c.290T>C (p.Ile97Thr) c.464T>C (p.Ile155Thr) n.829T>C n.824T>C | gnomAD v4 |
4 | g.134200730A>T | CA358375403 | PABPC4L | c.290T>A (p.Ile97Asn) c.464T>A (p.Ile155Asn) n.829T>A n.824T>A | |
4 | g.134200731T>A | CA358375404 | PABPC4L | c.289A>T (p.Ile97Phe) c.463A>T (p.Ile155Phe) n.828A>T n.823A>T | |
4 | g.134200731T>C | CA358375405 | PABPC4L | c.289A>G (p.Ile97Val) c.463A>G (p.Ile155Val) n.828A>G n.823A>G | |
4 | g.134200731T>G | CA3081076 | PABPC4L | c.289A>C (p.Ile97Leu) c.463A>C (p.Ile155Leu) n.828A>C n.823A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200731T= | CA1495814968 | PABPC4L | c.289A= (p.Ile97=) c.463A= (p.Ile155=) n.828A= n.823A= | |
4 | g.134200732T>A | CA441362033 | PABPC4L | c.288A>T (p.Gly96=) c.462A>T (p.Gly154=) n.827A>T n.822A>T | |
4 | g.134200732T>C | CA441362034 | PABPC4L | c.288A>G (p.Gly96=) c.462A>G (p.Gly154=) n.827A>G n.822A>G | |
4 | g.134200732T>G | CA441362035 | PABPC4L | c.288A>C (p.Gly96=) c.462A>C (p.Gly154=) n.827A>C n.822A>C | |
4 | g.134200733C>A | CA358375407 | PABPC4L | c.287G>T (p.Gly96Val) c.461G>T (p.Gly154Val) n.826G>T n.821G>T | |
4 | g.134200733C>G | CA358375408 | PABPC4L | c.287G>C (p.Gly96Ala) c.461G>C (p.Gly154Ala) n.826G>C n.821G>C | |
4 | g.134200733C>T | CA358375406 | PABPC4L | c.287G>A (p.Gly96Glu) c.461G>A (p.Gly154Glu) n.826G>A n.821G>A | |
4 | g.134200734C>A | CA358375409 | PABPC4L | c.286G>T (p.Gly96Ter) c.460G>T (p.Gly154Ter) n.825G>T n.820G>T | |
4 | g.134200734C= | CA1495814972 | PABPC4L | c.286G= (p.Gly96=) c.460G= (p.Gly154=) n.825G= n.820G= | |
4 | g.134200734C>G | CA358375410 | PABPC4L | c.286G>C (p.Gly96Arg) c.460G>C (p.Gly154Arg) n.825G>C n.820G>C | |
4 | g.134200734C>T | CA358375411 | PABPC4L | c.286G>A (p.Gly96Arg) c.460G>A (p.Gly154Arg) n.825G>A n.820G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.134200735A>C | CA441362038 | PABPC4L | c.285T>G (p.Ser95=) c.459T>G (p.Ser153=) n.824T>G n.819T>G | |
4 | g.134200735A>G | CA441362037 | PABPC4L | c.285T>C (p.Ser95=) c.459T>C (p.Ser153=) n.824T>C n.819T>C | |
4 | g.134200735A>T | CA441362036 | PABPC4L | c.285T>A (p.Ser95=) c.459T>A (p.Ser153=) n.824T>A n.819T>A | |
4 | g.134200735_134200736insT | CA2672091055 | PABPC4L | c.284_285insA (p.Gly96TrpfsTer16) c.458_459insA (p.Gly154TrpfsTer16) n.823_824insA n.818_819insA | gnomAD v4 |
4 | g.134200736G>A | CA358375412 | PABPC4L | c.284C>T (p.Ser95Phe) c.458C>T (p.Ser153Phe) n.823C>T n.818C>T | |
4 | g.134200736G>C | CA358375413 | PABPC4L | c.284C>G (p.Ser95Cys) c.458C>G (p.Ser153Cys) n.823C>G n.818C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200736G= | CA1495814975 | PABPC4L | c.284C= (p.Ser95=) c.458C= (p.Ser153=) n.823C= n.818C= | |
4 | g.134200736G>T | CA358375414 | PABPC4L | c.284C>A (p.Ser95Tyr) c.458C>A (p.Ser153Tyr) n.823C>A n.818C>A | |
4 | g.134200736_134200737insCCACCATGCCAGGCTATTTATTTATTT | CA2672091056 | PABPC4L | c.283_284insAAATAAATAAATAGCCTGGCATGGTGG (p.Ser95Ter) c.457_458insAAATAAATAAATAGCCTGGCATGGTGG (p.Ser153Ter) n.822_823insAAATAAATAAATAGCCTGGCATGGTGG n.817_818insAAATAAATAAATAGCCTGGCATGGTGG | gnomAD v4 |
4 | g.134200737A= | CA1495814979 | PABPC4L | c.283T= (p.Ser95=) c.457T= (p.Ser153=) n.822T= n.817T= | |
4 | g.134200737A>C | CA358375415 | PABPC4L | c.283T>G (p.Ser95Ala) c.457T>G (p.Ser153Ala) n.822T>G n.817T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200737A>G | CA358375416 | PABPC4L | c.283T>C (p.Ser95Pro) c.457T>C (p.Ser153Pro) n.822T>C n.817T>C | gnomAD v4 |
4 | g.134200737A>T | CA358375417 | PABPC4L | c.283T>A (p.Ser95Thr) c.457T>A (p.Ser153Thr) n.822T>A n.817T>A | |
4 | g.134200738T>A | CA358375418 | PABPC4L | c.282A>T (p.Arg94Ser) c.456A>T (p.Arg152Ser) n.821A>T n.816A>T | gnomAD v4 |
4 | g.134200738T>C | CA441362039 | PABPC4L | c.282A>G (p.Arg94=) c.456A>G (p.Arg152=) n.821A>G n.816A>G | |
4 | g.134200738T>G | CA358375419 | PABPC4L | c.282A>C (p.Arg94Ser) c.456A>C (p.Arg152Ser) n.821A>C n.816A>C | |
4 | g.134200738_134200741delinsTCTC | CA1495814984 | PABPC4L | c.279_282delinsGAGA (p.Arg93=) c.453_456delinsGAGA (p.Arg151=) n.818_821delinsGAGA n.813_816delinsGAGA | |
4 | g.134200739C>A | CA358375420 | PABPC4L | c.281G>T (p.Arg94Ile) c.455G>T (p.Arg152Ile) n.820G>T n.815G>T | dbSNP |
4 | g.134200739C= | CA1495814987 | PABPC4L | c.281G= (p.Arg94=) c.455G= (p.Arg152=) n.820G= n.815G= | |
4 | g.134200739C>G | CA358375421 | PABPC4L | c.281G>C (p.Arg94Thr) c.455G>C (p.Arg152Thr) n.820G>C n.815G>C | |
4 | g.134200739C>T | CA3081078 | PABPC4L | c.281G>A (p.Arg94Lys) c.455G>A (p.Arg152Lys) n.820G>A n.815G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.134200742_134200744del | CA3081077 | PABPC4L | c.279_281del (p.Arg94del) c.453_455del (p.Arg152del) n.818_820del n.813_815del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200740T>A | CA358375422 | PABPC4L | c.280A>T (p.Arg94Ter) c.454A>T (p.Arg152Ter) n.819A>T n.814A>T | |
4 | g.134200740T>C | CA358375423 | PABPC4L | c.280A>G (p.Arg94Gly) c.454A>G (p.Arg152Gly) n.819A>G n.814A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200740T>G | CA441362040 | PABPC4L | c.280A>C (p.Arg94=) c.454A>C (p.Arg152=) n.819A>C n.814A>C | |
4 | g.134200740T= | CA1495814991 | PABPC4L | c.280A= (p.Arg94=) c.454A= (p.Arg152=) n.819A= n.814A= | |
4 | g.134200741C>A | CA358375424 | PABPC4L | c.279G>T (p.Arg93Ser) c.453G>T (p.Arg151Ser) n.818G>T n.813G>T | gnomAD v4 |
4 | g.134200741C= | CA1495814994 | PABPC4L | c.279G= (p.Arg93=) c.453G= (p.Arg151=) n.818G= n.813G= | |
4 | g.134200741C>G | CA358375425 | PABPC4L | c.279G>C (p.Arg93Ser) c.453G>C (p.Arg151Ser) n.818G>C n.813G>C | |
4 | g.134200741C>T | CA106325821 | PABPC4L | c.279G>A (p.Arg93=) c.453G>A (p.Arg151=) n.818G>A n.813G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200742C>A | CA358375428 | PABPC4L | c.278G>T (p.Arg93Met) c.452G>T (p.Arg151Met) n.817G>T n.812G>T | gnomAD v4 |
4 | g.134200742C>G | CA358375427 | PABPC4L | c.278G>C (p.Arg93Thr) c.452G>C (p.Arg151Thr) n.817G>C n.812G>C | |
4 | g.134200742C>T | CA358375426 | PABPC4L | c.278G>A (p.Arg93Lys) c.452G>A (p.Arg151Lys) n.817G>A n.812G>A | gnomAD v4 |