| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 4 | g.134200743T>A | CA358375429 | PABPC4L | c.277A>T (p.Arg93Trp) c.451A>T (p.Arg151Trp) n.816A>T n.811A>T | |
| 4 | g.134200743T>C | CA358375430 | PABPC4L | c.277A>G (p.Arg93Gly) c.451A>G (p.Arg151Gly) n.816A>G n.811A>G | |
| 4 | g.134200743T>G | CA441362041 | PABPC4L | c.277A>C (p.Arg93=) c.451A>C (p.Arg151=) n.816A>C n.811A>C | gnomAD v4 |
| 4 | g.134200744C>A | CA358375431 | PABPC4L | c.276G>T (p.Leu92Phe) c.450G>T (p.Leu150Phe) n.815G>T n.810G>T | COSMIC COSMIC |
| 4 | g.134200744C= | CA1495814997 | PABPC4L | c.276G= (p.Leu92=) c.450G= (p.Leu150=) n.815G= n.810G= | |
| 4 | g.134200744C>G | CA358375432 | PABPC4L | c.276G>C (p.Leu92Phe) c.450G>C (p.Leu150Phe) n.815G>C n.810G>C | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.134200744C>T | CA441362042 | PABPC4L | c.276G>A (p.Leu92=) c.450G>A (p.Leu150=) n.815G>A n.810G>A | COSMIC COSMIC |
| 4 | g.134200745A>C | CA358375433 | PABPC4L | c.275T>G (p.Leu92Trp) c.449T>G (p.Leu150Trp) n.814T>G n.809T>G | |
| 4 | g.134200745A>G | CA358375434 | PABPC4L | c.275T>C (p.Leu92Ser) c.449T>C (p.Leu150Ser) n.814T>C n.809T>C | |
| 4 | g.134200745A>T | CA358375435 | PABPC4L | c.275T>A (p.Leu92Ter) c.449T>A (p.Leu150Ter) n.814T>A n.809T>A | |
| 4 | g.134200746A>C | CA358375436 | PABPC4L | c.274T>G (p.Leu92Val) c.448T>G (p.Leu150Val) n.813T>G n.808T>G | |
| 4 | g.134200746A>G | CA441362043 | PABPC4L | c.274T>C (p.Leu92=) c.448T>C (p.Leu150=) n.813T>C n.808T>C | gnomAD v4 |
| 4 | g.134200746A>T | CA358375437 | PABPC4L | c.274T>A (p.Leu92Met) c.448T>A (p.Leu150Met) n.813T>A n.808T>A | |
| 4 | g.134200746_134200747insACACCCAAACACACCCAACACA | CA2763628676 | PABPC4L | c.274_275insGTGTTGGGTGTGTTTGGGTGTT (p.Leu92CysfsTer27) c.448_449insGTGTTGGGTGTGTTTGGGTGTT (p.Leu150CysfsTer27) n.813_814insGTGTTGGGTGTGTTTGGGTGTT n.808_809insGTGTTGGGTGTGTTTGGGTGTT | |
| 4 | g.134200747G>A | CA441362044 | PABPC4L | c.273C>T (p.Tyr91=) c.447C>T (p.Tyr149=) n.812C>T n.807C>T | |
| 4 | g.134200747G>C | CA358375438 | PABPC4L | c.273C>G (p.Tyr91Ter) c.447C>G (p.Tyr149Ter) n.812C>G n.807C>G | |
| 4 | g.134200747G>T | CA358375439 | PABPC4L | c.273C>A (p.Tyr91Ter) c.447C>A (p.Tyr149Ter) n.812C>A n.807C>A | |
| 4 | g.134200748T>A | CA358375440 | PABPC4L | c.272A>T (p.Tyr91Phe) c.446A>T (p.Tyr149Phe) n.811A>T n.806A>T | |
| 4 | g.134200748T>C | CA358375442 | PABPC4L | c.272A>G (p.Tyr91Cys) c.446A>G (p.Tyr149Cys) n.811A>G n.806A>G | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.134200748T>G | CA358375441 | PABPC4L | c.272A>C (p.Tyr91Ser) c.446A>C (p.Tyr149Ser) n.811A>C n.806A>C | dbSNP gnomAD v4 |
| 4 | g.134200748T= | CA1495814998 | PABPC4L | c.272A= (p.Tyr91=) c.446A= (p.Tyr149=) n.811A= n.806A= | |
| 4 | g.134200749A= | CA1495815001 | PABPC4L | c.271T= (p.Tyr91=) c.445T= (p.Tyr149=) n.810T= n.805T= | |
| 4 | g.134200749A>C | CA358375443 | PABPC4L | c.271T>G (p.Tyr91Asp) c.445T>G (p.Tyr149Asp) n.810T>G n.805T>G | |
| 4 | g.134200749A>G | CA106325823 | PABPC4L | c.271T>C (p.Tyr91His) c.445T>C (p.Tyr149His) n.810T>C n.805T>C | dbSNP |
| 4 | g.134200749A>T | CA358375444 | PABPC4L | c.271T>A (p.Tyr91Asn) c.445T>A (p.Tyr149Asn) n.810T>A n.805T>A | |
| 4 | g.134200750G>A | CA441362045 | PABPC4L | c.270C>T (p.Ala90=) c.444C>T (p.Ala148=) n.809C>T n.804C>T | gnomAD v4 |
| 4 | g.134200750G>C | CA441362046 | PABPC4L | c.270C>G (p.Ala90=) c.444C>G (p.Ala148=) n.809C>G n.804C>G | gnomAD v4 |
| 4 | g.134200750G>T | CA441362047 | PABPC4L | c.270C>A (p.Ala90=) c.444C>A (p.Ala148=) n.809C>A n.804C>A | |
| 4 | g.134200751G>A | CA358375445 | PABPC4L | c.269C>T (p.Ala90Val) c.443C>T (p.Ala148Val) n.808C>T n.803C>T | gnomAD v4 |
| 4 | g.134200751G>C | CA358375447 | PABPC4L | c.269C>G (p.Ala90Gly) c.443C>G (p.Ala148Gly) n.808C>G n.803C>G | |
| 4 | g.134200751G>T | CA358375446 | PABPC4L | c.269C>A (p.Ala90Asp) c.443C>A (p.Ala148Asp) n.808C>A n.803C>A | |
| 4 | g.134200752C>A | CA358375448 | PABPC4L | c.268G>T (p.Ala90Ser) c.442G>T (p.Ala148Ser) n.807G>T n.802G>T | |
| 4 | g.134200752C= | CA1495815003 | PABPC4L | c.268G= (p.Ala90=) c.442G= (p.Ala148=) n.807G= n.802G= | |
| 4 | g.134200752C>G | CA358375449 | PABPC4L | c.268G>C (p.Ala90Pro) c.442G>C (p.Ala148Pro) n.807G>C n.802G>C | |
| 4 | g.134200752C>T | CA358375450 | PABPC4L | c.268G>A (p.Ala90Thr) c.442G>A (p.Ala148Thr) n.807G>A n.802G>A | gnomAD v4 |
| 4 | g.134200753A>C | CA358375451 | PABPC4L | c.267T>G (p.Asp89Glu) c.441T>G (p.Asp147Glu) n.806T>G n.801T>G | |
| 4 | g.134200753A>G | CA441362048 | PABPC4L | c.267T>C (p.Asp89=) c.441T>C (p.Asp147=) n.806T>C n.801T>C | |
| 4 | g.134200753A>T | CA358375452 | PABPC4L | c.267T>A (p.Asp89Glu) c.441T>A (p.Asp147Glu) n.806T>A n.801T>A | |
| 4 | g.134200753dup | CA787526460 | PABPC4L | c.267dup (p.Ala90CysfsTer22) c.441dup (p.Ala148CysfsTer22) n.806dup n.801dup | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.134200754T>A | CA358375453 | PABPC4L | c.266A>T (p.Asp89Val) c.440A>T (p.Asp147Val) n.805A>T n.800A>T | |
| 4 | g.134200754T>C | CA358375454 | PABPC4L | c.266A>G (p.Asp89Gly) c.440A>G (p.Asp147Gly) n.805A>G n.800A>G | gnomAD v4 |
| 4 | g.134200754T>G | CA358375455 | PABPC4L | c.266A>C (p.Asp89Ala) c.440A>C (p.Asp147Ala) n.805A>C n.800A>C | |
| 4 | g.134200755C>A | CA358375456 | PABPC4L | c.265G>T (p.Asp89Tyr) c.439G>T (p.Asp147Tyr) n.804G>T n.799G>T | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.134200755C= | CA1495815008 | PABPC4L | c.265G= (p.Asp89=) c.439G= (p.Asp147=) n.804G= n.799G= | |
| 4 | g.134200755C>G | CA358375457 | PABPC4L | c.265G>C (p.Asp89His) c.439G>C (p.Asp147His) n.804G>C n.799G>C | |
| 4 | g.134200755C>T | CA358375458 | PABPC4L | c.265G>A (p.Asp89Asn) c.439G>A (p.Asp147Asn) n.804G>A n.799G>A | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.134200756G>A | CA3081079 | PABPC4L | c.264C>T (p.Arg88=) c.438C>T (p.Arg146=) n.803C>T n.798C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.134200756G>C | CA441362049 | PABPC4L | c.264C>G (p.Arg88=) c.438C>G (p.Arg146=) n.803C>G n.798C>G | dbSNP gnomAD v4 |
| 4 | g.134200756G= | CA1495815011 | PABPC4L | c.264C= (p.Arg88=) c.438C= (p.Arg146=) n.803C= n.798C= | |
| 4 | g.134200756G>T | CA441362050 | PABPC4L | c.264C>A (p.Arg88=) c.438C>A (p.Arg146=) n.803C>A n.798C>A | |
| 4 | g.134200757C>A | CA358375459 | PABPC4L | c.263G>T (p.Arg88Leu) c.437G>T (p.Arg146Leu) n.802G>T n.797G>T | |
| 4 | g.134200757C= | CA1495815015 | PABPC4L | c.263G= (p.Arg88=) c.437G= (p.Arg146=) n.802G= n.797G= | |
| 4 | g.134200757C>G | CA358375460 | PABPC4L | c.263G>C (p.Arg88Pro) c.437G>C (p.Arg146Pro) n.802G>C n.797G>C | |
| 4 | g.134200757C>T | CA358375461 | PABPC4L | c.263G>A (p.Arg88His) c.437G>A (p.Arg146His) n.802G>A n.797G>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.134200758G>A | CA3081080 | PABPC4L | c.262C>T (p.Arg88Cys) c.436C>T (p.Arg146Cys) n.801C>T n.796C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.134200758G>C | CA358375462 | PABPC4L | c.262C>G (p.Arg88Gly) c.436C>G (p.Arg146Gly) n.801C>G n.796C>G | |
| 4 | g.134200758G= | CA1495815016 | PABPC4L | c.262C= (p.Arg88=) c.436C= (p.Arg146=) n.801C= n.796C= | |
| 4 | g.134200758G>T | CA358375464 | PABPC4L | c.262C>A (p.Arg88Ser) c.436C>A (p.Arg146Ser) n.801C>A n.796C>A | gnomAD v4 |
| 4 | g.134200759C>A | CA358375465 | PABPC4L | c.261G>T (p.Gln87His) c.435G>T (p.Gln145His) n.800G>T n.795G>T | |
| 4 | g.134200759C= | CA1495815020 | PABPC4L | c.261G= (p.Gln87=) c.435G= (p.Gln145=) n.800G= n.795G= | |
| 4 | g.134200759C>G | CA358375466 | PABPC4L | c.261G>C (p.Gln87His) c.435G>C (p.Gln145His) n.800G>C n.795G>C | |
| 4 | g.134200759C>T | CA441362051 | PABPC4L | c.261G>A (p.Gln87=) c.435G>A (p.Gln145=) n.800G>A n.795G>A | dbSNP gnomAD v4 COSMIC COSMIC |
| 4 | g.134200760T>A | CA358375467 | PABPC4L | c.260A>T (p.Gln87Leu) c.434A>T (p.Gln145Leu) n.799A>T n.794A>T | gnomAD v4 |
| 4 | g.134200760T>C | CA358375468 | PABPC4L | c.260A>G (p.Gln87Arg) c.434A>G (p.Gln145Arg) n.799A>G n.794A>G | |
| 4 | g.134200760T>G | CA358375469 | PABPC4L | c.260A>C (p.Gln87Pro) c.434A>C (p.Gln145Pro) n.799A>C n.794A>C | |
| 4 | g.134200761G>A | CA358375471 | PABPC4L | c.259C>T (p.Gln87Ter) c.433C>T (p.Gln145Ter) n.798C>T n.793C>T | gnomAD v4 |
| 4 | g.134200761G>C | CA358375472 | PABPC4L | c.259C>G (p.Gln87Glu) c.433C>G (p.Gln145Glu) n.798C>G n.793C>G | |
| 4 | g.134200761G>T | CA358375470 | PABPC4L | c.259C>A (p.Gln87Lys) c.433C>A (p.Gln145Lys) n.798C>A n.793C>A | |
| 4 | g.134200762A>C | CA441362054 | PABPC4L | c.258T>G (p.Ser86=) c.432T>G (p.Ser144=) n.797T>G n.792T>G | |
| 4 | g.134200762A>G | CA441362053 | PABPC4L | c.258T>C (p.Ser86=) c.432T>C (p.Ser144=) n.797T>C n.792T>C | |
| 4 | g.134200762A>T | CA441362052 | PABPC4L | c.258T>A (p.Ser86=) c.432T>A (p.Ser144=) n.797T>A n.792T>A | |
| 4 | g.134200763G>A | CA358375473 | PABPC4L | c.257C>T (p.Ser86Phe) c.431C>T (p.Ser144Phe) n.796C>T n.791C>T | gnomAD v4 |
| 4 | g.134200763G>C | CA358375474 | PABPC4L | c.257C>G (p.Ser86Cys) c.431C>G (p.Ser144Cys) n.796C>G n.791C>G | |
| 4 | g.134200763G>T | CA358375475 | PABPC4L | c.257C>A (p.Ser86Tyr) c.431C>A (p.Ser144Tyr) n.796C>A n.791C>A | |
| 4 | g.134200764A>C | CA358375476 | PABPC4L | c.256T>G (p.Ser86Ala) c.430T>G (p.Ser144Ala) n.795T>G n.790T>G | |
| 4 | g.134200764A>G | CA358375477 | PABPC4L | c.256T>C (p.Ser86Pro) c.430T>C (p.Ser144Pro) n.795T>C n.790T>C | |
| 4 | g.134200764A>T | CA358375478 | PABPC4L | c.256T>A (p.Ser86Thr) c.430T>A (p.Ser144Thr) n.795T>A n.790T>A | |
| 4 | g.134200765C>A | CA358375479 | PABPC4L | c.255G>T (p.Trp85Cys) c.429G>T (p.Trp143Cys) n.794G>T n.789G>T | |
| 4 | g.134200765C>G | CA358375480 | PABPC4L | c.255G>C (p.Trp85Cys) c.429G>C (p.Trp143Cys) n.794G>C n.789G>C | |
| 4 | g.134200765C>T | CA358375481 | PABPC4L | c.255G>A (p.Trp85Ter) c.429G>A (p.Trp143Ter) n.794G>A n.789G>A | |
| 4 | g.134200766C>A | CA358375482 | PABPC4L | c.254G>T (p.Trp85Leu) c.428G>T (p.Trp143Leu) n.793G>T n.788G>T | |
| 4 | g.134200766C>G | CA358375483 | PABPC4L | c.254G>C (p.Trp85Ser) c.428G>C (p.Trp143Ser) n.793G>C n.788G>C | |
| 4 | g.134200766C>T | CA358375484 | PABPC4L | c.254G>A (p.Trp85Ter) c.428G>A (p.Trp143Ter) n.793G>A n.788G>A | |
| 4 | g.134200767A>C | CA358375487 | PABPC4L | c.253T>G (p.Trp85Gly) c.427T>G (p.Trp143Gly) n.792T>G n.787T>G | |
| 4 | g.134200767A>G | CA358375485 | PABPC4L | c.253T>C (p.Trp85Arg) c.427T>C (p.Trp143Arg) n.792T>C n.787T>C | |
| 4 | g.134200767A>T | CA358375486 | PABPC4L | c.253T>A (p.Trp85Arg) c.427T>A (p.Trp143Arg) n.792T>A n.787T>A | |
| 4 | g.134200768C>A | CA358375488 | PABPC4L | c.252G>T (p.Met84Ile) c.426G>T (p.Met142Ile) n.791G>T n.786G>T | |
| 4 | g.134200768C= | CA1495815022 | PABPC4L | c.252G= (p.Met84=) c.426G= (p.Met142=) n.791G= n.786G= | |
| 4 | g.134200768C>G | CA358375489 | PABPC4L | c.252G>C (p.Met84Ile) c.426G>C (p.Met142Ile) n.791G>C n.786G>C | |
| 4 | g.134200768C>T | CA3081081 | PABPC4L | c.252G>A (p.Met84Ile) c.426G>A (p.Met142Ile) n.791G>A n.786G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.134200768_134200770delinsCAT | CA1495815023 | PABPC4L | c.250_252delinsATG (p.Met84=) c.424_426delinsATG (p.Met142=) n.789_791delinsATG n.784_786delinsATG | |
| 4 | g.134200769A= | CA1495815026 | PABPC4L | c.251T= (p.Met84=) c.425T= (p.Met142=) n.790T= n.785T= | |
| 4 | g.134200769A>C | CA358375490 | PABPC4L | c.251T>G (p.Met84Arg) c.425T>G (p.Met142Arg) n.790T>G n.785T>G | |
| 4 | g.134200769A>G | CA358375491 | PABPC4L | c.251T>C (p.Met84Thr) c.425T>C (p.Met142Thr) n.790T>C n.785T>C | ClinVar dbSNP gnomAD v4 |
| 4 | g.134200769A>T | CA358375492 | PABPC4L | c.251T>A (p.Met84Lys) c.425T>A (p.Met142Lys) n.790T>A n.785T>A | gnomAD v4 |
| 4 | g.134200769_134200770del | CA1495815025 | PABPC4L | c.250_251del (p.Met84ValfsTer27) c.424_425del (p.Met142ValfsTer27) n.789_790del n.784_785del | dbSNP gnomAD v4 |
| 4 | g.134200770T>A | CA358375493 | PABPC4L | c.250A>T (p.Met84Leu) c.424A>T (p.Met142Leu) n.789A>T n.784A>T | |
| 4 | g.134200770T>C | CA358375494 | PABPC4L | c.250A>G (p.Met84Val) c.424A>G (p.Met142Val) n.789A>G n.784A>G | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.134200770T>G | CA358375495 | PABPC4L | c.250A>C (p.Met84Leu) c.424A>C (p.Met142Leu) n.789A>C n.784A>C | |
| 4 | g.134200770T= | CA1495815029 | PABPC4L | c.250A= (p.Met84=) c.424A= (p.Met142=) n.789A= n.784A= | |
| 4 | g.134200771G>A | CA441362055 | PABPC4L | c.249C>T (p.Leu83=) c.423C>T (p.Leu141=) n.788C>T n.783C>T | |
| 4 | g.134200771G>C | CA106325830 | PABPC4L | c.249C>G (p.Leu83=) c.423C>G (p.Leu141=) n.788C>G n.783C>G | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.134200771G= | CA1495815033 | PABPC4L | c.249C= (p.Leu83=) c.423C= (p.Leu141=) n.788C= n.783C= | |
| 4 | g.134200771G>T | CA441362056 | PABPC4L | c.249C>A (p.Leu83=) c.423C>A (p.Leu141=) n.788C>A n.783C>A | |
| 4 | g.134200772A>C | CA358375496 | PABPC4L | c.248T>G (p.Leu83Arg) c.422T>G (p.Leu141Arg) n.787T>G n.782T>G | |
| 4 | g.134200772A>G | CA358375497 | PABPC4L | c.248T>C (p.Leu83Pro) c.422T>C (p.Leu141Pro) n.787T>C n.782T>C | |
| 4 | g.134200772A>T | CA358375498 | PABPC4L | c.248T>A (p.Leu83His) c.422T>A (p.Leu141His) n.787T>A n.782T>A | |
| 4 | g.134200773G>A | CA358375501 | PABPC4L | c.247C>T (p.Leu83Phe) c.421C>T (p.Leu141Phe) n.786C>T n.781C>T | |
| 4 | g.134200773G>C | CA358375500 | PABPC4L | c.247C>G (p.Leu83Val) c.421C>G (p.Leu141Val) n.786C>G n.781C>G | |
| 4 | g.134200773G>T | CA358375499 | PABPC4L | c.247C>A (p.Leu83Ile) c.421C>A (p.Leu141Ile) n.786C>A n.781C>A | |
| 4 | g.134200774A>C | CA441362057 | PABPC4L | c.246T>G (p.Arg82=) c.420T>G (p.Arg140=) n.785T>G n.780T>G | |
| 4 | g.134200774A>G | CA441362058 | PABPC4L | c.246T>C (p.Arg82=) c.420T>C (p.Arg140=) n.785T>C n.780T>C | gnomAD v4 |
| 4 | g.134200774A>T | CA441362059 | PABPC4L | c.246T>A (p.Arg82=) c.420T>A (p.Arg140=) n.785T>A n.780T>A | |
| 4 | g.134200775C>A | CA358375502 | PABPC4L | c.245G>T (p.Arg82Leu) c.419G>T (p.Arg140Leu) n.784G>T n.779G>T | |
| 4 | g.134200775C= | CA1495815036 | PABPC4L | c.245G= (p.Arg82=) c.419G= (p.Arg140=) n.784G= n.779G= | |
| 4 | g.134200775C>G | CA358375504 | PABPC4L | c.245G>C (p.Arg82Pro) c.419G>C (p.Arg140Pro) n.784G>C n.779G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.134200775C>T | CA358375503 | PABPC4L | c.245G>A (p.Arg82His) c.419G>A (p.Arg140His) n.784G>A n.779G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 4 | g.134200776G>A | CA358375505 | PABPC4L | c.244C>T (p.Arg82Cys) c.418C>T (p.Arg140Cys) n.783C>T n.778C>T | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.134200776G>C | CA358375506 | PABPC4L | c.244C>G (p.Arg82Gly) c.418C>G (p.Arg140Gly) n.783C>G n.778C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.134200776G= | CA1495815042 | PABPC4L | c.244C= (p.Arg82=) c.418C= (p.Arg140=) n.783C= n.778C= | |
| 4 | g.134200776G>T | CA358375507 | PABPC4L | c.244C>A (p.Arg82Ser) c.418C>A (p.Arg140Ser) n.783C>A n.778C>A | |
| 4 | g.134200777G>A | CA441362060 | PABPC4L | c.243C>T (p.Ile81=) c.417C>T (p.Ile139=) n.782C>T n.777C>T | |
| 4 | g.134200777G>C | CA358375508 | PABPC4L | c.243C>G (p.Ile81Met) c.417C>G (p.Ile139Met) n.782C>G n.777C>G | |
| 4 | g.134200777G= | CA1495815045 | PABPC4L | c.243C= (p.Ile81=) c.417C= (p.Ile139=) n.782C= n.777C= | |
| 4 | g.134200777G>T | CA441362061 | PABPC4L | c.243C>A (p.Ile81=) c.417C>A (p.Ile139=) n.782C>A n.777C>A | dbSNP |
| 4 | g.134200778A>C | CA358375509 | PABPC4L | c.242T>G (p.Ile81Ser) c.416T>G (p.Ile139Ser) n.781T>G n.776T>G | |
| 4 | g.134200778A>G | CA358375510 | PABPC4L | c.242T>C (p.Ile81Thr) c.416T>C (p.Ile139Thr) n.781T>C n.776T>C | |
| 4 | g.134200778A>T | CA358375511 | PABPC4L | c.242T>A (p.Ile81Asn) c.416T>A (p.Ile139Asn) n.781T>A n.776T>A | |
| 4 | g.134200779T>A | CA358375512 | PABPC4L | c.241A>T (p.Ile81Phe) c.415A>T (p.Ile139Phe) n.780A>T n.775A>T | |
| 4 | g.134200779T>C | CA358375513 | PABPC4L | c.241A>G (p.Ile81Val) c.415A>G (p.Ile139Val) n.780A>G n.775A>G | |
| 4 | g.134200779T>G | CA358375514 | PABPC4L | c.241A>C (p.Ile81Leu) c.415A>C (p.Ile139Leu) n.780A>C n.775A>C | |
| 4 | g.134200780G>A | CA441362062 | PABPC4L | c.240C>T (p.Ser80=) c.414C>T (p.Ser138=) n.779C>T n.774C>T | COSMIC COSMIC |
| 4 | g.134200780G>C | CA441362063 | PABPC4L | c.240C>G (p.Ser80=) c.414C>G (p.Ser138=) n.779C>G n.774C>G | |
| 4 | g.134200780G>T | CA441362064 | PABPC4L | c.240C>A (p.Ser80=) c.414C>A (p.Ser138=) n.779C>A n.774C>A | |
| 4 | g.134200781G>A | CA358375517 | PABPC4L | c.239C>T (p.Ser80Phe) c.413C>T (p.Ser138Phe) n.778C>T n.773C>T | |
| 4 | g.134200781G>C | CA358375516 | PABPC4L | c.239C>G (p.Ser80Cys) c.413C>G (p.Ser138Cys) n.778C>G n.773C>G | |
| 4 | g.134200781G= | CA1495815049 | PABPC4L | c.239C= (p.Ser80=) c.413C= (p.Ser138=) n.778C= n.773C= | |
| 4 | g.134200781G>T | CA358375515 | PABPC4L | c.239C>A (p.Ser80Tyr) c.413C>A (p.Ser138Tyr) n.778C>A n.773C>A | dbSNP |
| 4 | g.134200782A= | CA1495815054 | PABPC4L | c.238T= (p.Ser80=) c.412T= (p.Ser138=) n.777T= n.772T= | |
| 4 | g.134200782A>C | CA358375518 | PABPC4L | c.238T>G (p.Ser80Ala) c.412T>G (p.Ser138Ala) n.777T>G n.772T>G | |
| 4 | g.134200782A>G | CA106325833 | PABPC4L | c.238T>C (p.Ser80Pro) c.412T>C (p.Ser138Pro) n.777T>C n.772T>C | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.134200782A>T | CA358375519 | PABPC4L | c.238T>A (p.Ser80Thr) c.412T>A (p.Ser138Thr) n.777T>A n.772T>A | |
| 4 | g.134200783T>A | CA358375520 | PABPC4L | c.237A>T (p.Lys79Asn) c.411A>T (p.Lys137Asn) n.776A>T n.771A>T | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.134200783T>C | CA441362065 | PABPC4L | c.237A>G (p.Lys79=) c.411A>G (p.Lys137=) n.776A>G n.771A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.134200783T>G | CA358375521 | PABPC4L | c.237A>C (p.Lys79Asn) c.411A>C (p.Lys137Asn) n.776A>C n.771A>C | |
| 4 | g.134200783T= | CA1495815057 | PABPC4L | c.237A= (p.Lys79=) c.411A= (p.Lys137=) n.776A= n.771A= | |
| 4 | g.134200784T>A | CA358375522 | PABPC4L | c.236A>T (p.Lys79Ile) c.410A>T (p.Lys137Ile) n.775A>T n.770A>T | |
| 4 | g.134200784T>C | CA358375523 | PABPC4L | c.236A>G (p.Lys79Arg) c.410A>G (p.Lys137Arg) n.775A>G n.770A>G | |
| 4 | g.134200784T>G | CA106325835 | PABPC4L | c.236A>C (p.Lys79Thr) c.410A>C (p.Lys137Thr) n.775A>C n.770A>C | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.134200784T= | CA1495815062 | PABPC4L | c.236A= (p.Lys79=) c.410A= (p.Lys137=) n.775A= n.770A= | |
| 4 | g.134200785T>A | CA358375524 | PABPC4L | c.235A>T (p.Lys79Ter) c.409A>T (p.Lys137Ter) n.774A>T n.769A>T | dbSNP |
| 4 | g.134200785T>C | CA358375525 | PABPC4L | c.235A>G (p.Lys79Glu) c.409A>G (p.Lys137Glu) n.774A>G n.769A>G | |
| 4 | g.134200785T>G | CA358375526 | PABPC4L | c.235A>C (p.Lys79Gln) c.409A>C (p.Lys137Gln) n.774A>C n.769A>C | |
| 4 | g.134200785T= | CA1495815064 | PABPC4L | c.235A= (p.Lys79=) c.409A= (p.Lys137=) n.774A= n.769A= | |
| 4 | g.134200786G>A | CA441362066 | PABPC4L | c.234C>T (p.Gly78=) c.408C>T (p.Gly136=) n.773C>T n.768C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.134200786G>C | CA441362067 | PABPC4L | c.234C>G (p.Gly78=) c.408C>G (p.Gly136=) n.773C>G n.768C>G | |
| 4 | g.134200786G= | CA1495815068 | PABPC4L | c.234C= (p.Gly78=) c.408C= (p.Gly136=) n.773C= n.768C= | |
| 4 | g.134200786G>T | CA441362068 | PABPC4L | c.234C>A (p.Gly78=) c.408C>A (p.Gly136=) n.773C>A n.768C>A | |
| 4 | g.134200787C>A | CA358375528 | PABPC4L | c.233G>T (p.Gly78Val) c.407G>T (p.Gly136Val) n.772G>T n.767G>T | |
| 4 | g.134200787C>G | CA358375529 | PABPC4L | c.233G>C (p.Gly78Ala) c.407G>C (p.Gly136Ala) n.772G>C n.767G>C | |
| 4 | g.134200787C>T | CA358375527 | PABPC4L | c.233G>A (p.Gly78Asp) c.407G>A (p.Gly136Asp) n.772G>A n.767G>A | gnomAD v4 |
| 4 | g.134200788C>A | CA358375530 | PABPC4L | c.232G>T (p.Gly78Cys) c.406G>T (p.Gly136Cys) n.771G>T n.766G>T | |
| 4 | g.134200788C= | CA1495815070 | PABPC4L | c.232G= (p.Gly78=) c.406G= (p.Gly136=) n.771G= n.766G= | |
| 4 | g.134200788C>G | CA358375531 | PABPC4L | c.232G>C (p.Gly78Arg) c.406G>C (p.Gly136Arg) n.771G>C n.766G>C | |
| 4 | g.134200788C>T | CA358375532 | PABPC4L | c.232G>A (p.Gly78Ser) c.406G>A (p.Gly136Ser) n.771G>A n.766G>A | dbSNP gnomAD v3 gnomAD v4 |