Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
4 | g.134200789T>A | CA358375533 | PABPC4L | c.231A>T (p.Lys77Asn) c.405A>T (p.Lys135Asn) n.770A>T n.765A>T | |
4 | g.134200789T>C | CA441362069 | PABPC4L | c.231A>G (p.Lys77=) c.405A>G (p.Lys135=) n.770A>G n.765A>G | |
4 | g.134200789T>G | CA358375534 | PABPC4L | c.231A>C (p.Lys77Asn) c.405A>C (p.Lys135Asn) n.770A>C n.765A>C | |
4 | g.134200790T>A | CA358375535 | PABPC4L | c.230A>T (p.Lys77Ile) c.404A>T (p.Lys135Ile) n.769A>T n.764A>T | |
4 | g.134200790T>C | CA358375536 | PABPC4L | c.230A>G (p.Lys77Arg) c.404A>G (p.Lys135Arg) n.769A>G n.764A>G | |
4 | g.134200790T>G | CA358375537 | PABPC4L | c.230A>C (p.Lys77Thr) c.404A>C (p.Lys135Thr) n.769A>C n.764A>C | |
4 | g.134200791T>A | CA358375538 | PABPC4L | c.229A>T (p.Lys77Ter) c.403A>T (p.Lys135Ter) n.768A>T n.763A>T | |
4 | g.134200791T>C | CA358375539 | PABPC4L | c.229A>G (p.Lys77Glu) c.403A>G (p.Lys135Glu) n.768A>G n.763A>G | |
4 | g.134200791T>G | CA358375540 | PABPC4L | c.229A>C (p.Lys77Gln) c.403A>C (p.Lys135Gln) n.768A>C n.763A>C | |
4 | g.134200792T>A | CA441362070 | PABPC4L | c.228A>T (p.Ile76=) c.402A>T (p.Ile134=) n.767A>T n.762A>T | |
4 | g.134200792T>C | CA358375541 | PABPC4L | c.228A>G (p.Ile76Met) c.402A>G (p.Ile134Met) n.767A>G n.762A>G | dbSNP gnomAD v2 gnomAD v4 |
4 | g.134200792T>G | CA441362071 | PABPC4L | c.228A>C (p.Ile76=) c.402A>C (p.Ile134=) n.767A>C n.762A>C | |
4 | g.134200792T= | CA1495815074 | PABPC4L | c.228A= (p.Ile76=) c.402A= (p.Ile134=) n.767A= n.762A= | |
4 | g.134200792_134200795delinsTATG | CA1495815072 | PABPC4L | c.225_228delinsCATA (p.Ile75=) c.399_402delinsCATA (p.Ile133=) n.764_767delinsCATA n.759_762delinsCATA | |
4 | g.134200793A= | CA1495815079 | PABPC4L | c.227T= (p.Ile76=) c.401T= (p.Ile134=) n.766T= n.761T= | |
4 | g.134200793A>C | CA358375544 | PABPC4L | c.227T>G (p.Ile76Arg) c.401T>G (p.Ile134Arg) n.766T>G n.761T>G | |
4 | g.134200793A>G | CA358375543 | PABPC4L | c.227T>C (p.Ile76Thr) c.401T>C (p.Ile134Thr) n.766T>C n.761T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200793A>T | CA358375542 | PABPC4L | c.227T>A (p.Ile76Lys) c.401T>A (p.Ile134Lys) n.766T>A n.761T>A | |
4 | g.134200796_134200798del | CA106325837 | PABPC4L | c.225_227del (p.Ile76del) c.399_401del (p.Ile134del) n.764_766del n.759_761del | dbSNP gnomAD v4 |
4 | g.134200794T>A | CA358375545 | PABPC4L | c.226A>T (p.Ile76Leu) c.400A>T (p.Ile134Leu) n.765A>T n.760A>T | |
4 | g.134200794T>C | CA106325839 | PABPC4L | c.226A>G (p.Ile76Val) c.400A>G (p.Ile134Val) n.765A>G n.760A>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.134200794T>G | CA358375546 | PABPC4L | c.226A>C (p.Ile76Leu) c.400A>C (p.Ile134Leu) n.765A>C n.760A>C | |
4 | g.134200794T= | CA1495815085 | PABPC4L | c.226A= (p.Ile76=) c.400A= (p.Ile134=) n.765A= n.760A= | |
4 | g.134200795G>A | CA441362072 | PABPC4L | c.225C>T (p.Ile75=) c.399C>T (p.Ile133=) n.764C>T n.759C>T | |
4 | g.134200795G>C | CA106325841 | PABPC4L | c.225C>G (p.Ile75Met) c.399C>G (p.Ile133Met) n.764C>G n.759C>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.134200795G= | CA1495815088 | PABPC4L | c.225C= (p.Ile75=) c.399C= (p.Ile133=) n.764C= n.759C= | |
4 | g.134200795G>T | CA441362073 | PABPC4L | c.225C>A (p.Ile75=) c.399C>A (p.Ile133=) n.764C>A n.759C>A | |
4 | g.134200796A= | CA1495815090 | PABPC4L | c.224T= (p.Ile75=) c.398T= (p.Ile133=) n.763T= n.758T= | |
4 | g.134200796A>C | CA358375547 | PABPC4L | c.224T>G (p.Ile75Ser) c.398T>G (p.Ile133Ser) n.763T>G n.758T>G | |
4 | g.134200796A>G | CA3081082 | PABPC4L | c.224T>C (p.Ile75Thr) c.398T>C (p.Ile133Thr) n.763T>C n.758T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200796A>T | CA358375548 | PABPC4L | c.224T>A (p.Ile75Asn) c.398T>A (p.Ile133Asn) n.763T>A n.758T>A | |
4 | g.134200797T>A | CA358375549 | PABPC4L | c.223A>T (p.Ile75Phe) c.397A>T (p.Ile133Phe) n.762A>T n.757A>T | |
4 | g.134200797T>C | CA358375550 | PABPC4L | c.223A>G (p.Ile75Val) c.397A>G (p.Ile133Val) n.762A>G n.757A>G | |
4 | g.134200797T>G | CA358375551 | PABPC4L | c.223A>C (p.Ile75Leu) c.397A>C (p.Ile133Leu) n.762A>C n.757A>C | |
4 | g.134200798G>A | CA441362074 | PABPC4L | c.222C>T (p.Asp74=) c.396C>T (p.Asp132=) n.761C>T n.756C>T | gnomAD v4 |
4 | g.134200798G>C | CA358375552 | PABPC4L | c.222C>G (p.Asp74Glu) c.396C>G (p.Asp132Glu) n.761C>G n.756C>G | |
4 | g.134200798G>T | CA358375553 | PABPC4L | c.222C>A (p.Asp74Glu) c.396C>A (p.Asp132Glu) n.761C>A n.756C>A | |
4 | g.134200799T>A | CA358375556 | PABPC4L | c.221A>T (p.Asp74Val) c.395A>T (p.Asp132Val) n.760A>T n.755A>T | |
4 | g.134200799T>C | CA358375555 | PABPC4L | c.221A>G (p.Asp74Gly) c.395A>G (p.Asp132Gly) n.760A>G n.755A>G | |
4 | g.134200799T>G | CA358375554 | PABPC4L | c.221A>C (p.Asp74Ala) c.395A>C (p.Asp132Ala) n.760A>C n.755A>C | |
4 | g.134200800C>A | CA358375557 | PABPC4L | c.220G>T (p.Asp74Tyr) c.394G>T (p.Asp132Tyr) n.759G>T n.754G>T | COSMIC COSMIC |
4 | g.134200800C= | CA1495815092 | PABPC4L | c.220G= (p.Asp74=) c.394G= (p.Asp132=) n.759G= n.754G= | |
4 | g.134200800C>G | CA358375559 | PABPC4L | c.220G>C (p.Asp74His) c.394G>C (p.Asp132His) n.759G>C n.754G>C | |
4 | g.134200800C>T | CA358375558 | PABPC4L | c.220G>A (p.Asp74Asn) c.394G>A (p.Asp132Asn) n.759G>A n.754G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.134200801A>C | CA358375560 | PABPC4L | c.219T>G (p.Phe73Leu) c.393T>G (p.Phe131Leu) n.758T>G n.753T>G | |
4 | g.134200801A>G | CA441362075 | PABPC4L | c.219T>C (p.Phe73=) c.393T>C (p.Phe131=) n.758T>C n.753T>C | |
4 | g.134200801A>T | CA358375561 | PABPC4L | c.219T>A (p.Phe73Leu) c.393T>A (p.Phe131Leu) n.758T>A n.753T>A | |
4 | g.134200802A>C | CA358375562 | PABPC4L | c.218T>G (p.Phe73Cys) c.392T>G (p.Phe131Cys) n.757T>G n.752T>G | |
4 | g.134200802A>G | CA358375563 | PABPC4L | c.218T>C (p.Phe73Ser) c.392T>C (p.Phe131Ser) n.757T>C n.752T>C | |
4 | g.134200802A>T | CA358375564 | PABPC4L | c.218T>A (p.Phe73Tyr) c.392T>A (p.Phe131Tyr) n.757T>A n.752T>A | |
4 | g.134200803A= | CA1495815095 | PABPC4L | c.217T= (p.Phe73=) c.391T= (p.Phe131=) n.756T= n.751T= | |
4 | g.134200803A>C | CA358375565 | PABPC4L | c.217T>G (p.Phe73Val) c.391T>G (p.Phe131Val) n.756T>G n.751T>G | dbSNP gnomAD v4 |
4 | g.134200803A>G | CA358375566 | PABPC4L | c.217T>C (p.Phe73Leu) c.391T>C (p.Phe131Leu) n.756T>C n.751T>C | |
4 | g.134200803A>T | CA358375567 | PABPC4L | c.217T>A (p.Phe73Ile) c.391T>A (p.Phe131Ile) n.756T>A n.751T>A | |
4 | g.134200804G>A | CA441362076 | PABPC4L | c.216C>T (p.Asn72=) c.390C>T (p.Asn130=) n.755C>T n.750C>T | gnomAD v4 |
4 | g.134200804G>C | CA358375568 | PABPC4L | c.216C>G (p.Asn72Lys) c.390C>G (p.Asn130Lys) n.755C>G n.750C>G | |
4 | g.134200804G= | CA1495815097 | PABPC4L | c.216C= (p.Asn72=) c.390C= (p.Asn130=) n.755C= n.750C= | |
4 | g.134200804G>T | CA106325844 | PABPC4L | c.216C>A (p.Asn72Lys) c.390C>A (p.Asn130Lys) n.755C>A n.750C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200805T>A | CA358375569 | PABPC4L | c.215A>T (p.Asn72Ile) c.389A>T (p.Asn130Ile) n.754A>T n.749A>T | |
4 | g.134200805T>C | CA358375570 | PABPC4L | c.215A>G (p.Asn72Ser) c.389A>G (p.Asn130Ser) n.754A>G n.749A>G | |
4 | g.134200805T>G | CA358375571 | PABPC4L | c.215A>C (p.Asn72Thr) c.389A>C (p.Asn130Thr) n.754A>C n.749A>C | |
4 | g.134200806T>A | CA358375574 | PABPC4L | c.214A>T (p.Asn72Tyr) c.388A>T (p.Asn130Tyr) n.753A>T n.748A>T | |
4 | g.134200806T>C | CA358375572 | PABPC4L | c.214A>G (p.Asn72Asp) c.388A>G (p.Asn130Asp) n.753A>G n.748A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.134200806T>G | CA358375573 | PABPC4L | c.214A>C (p.Asn72His) c.388A>C (p.Asn130His) n.753A>C n.748A>C | |
4 | g.134200806T= | CA1495815100 | PABPC4L | c.214A= (p.Asn72=) c.388A= (p.Asn130=) n.753A= n.748A= | |
4 | g.134200807C>A | CA358375575 | PABPC4L | c.213G>T (p.Met71Ile) c.387G>T (p.Met129Ile) n.752G>T n.747G>T | gnomAD v4 |
4 | g.134200807C= | CA1495815102 | PABPC4L | c.213G= (p.Met71=) c.387G= (p.Met129=) n.752G= n.747G= | |
4 | g.134200807C>G | CA358375576 | PABPC4L | c.213G>C (p.Met71Ile) c.387G>C (p.Met129Ile) n.752G>C n.747G>C | dbSNP gnomAD v2 gnomAD v4 |
4 | g.134200807C>T | CA358375577 | PABPC4L | c.213G>A (p.Met71Ile) c.387G>A (p.Met129Ile) n.752G>A n.747G>A | |
4 | g.134200808A= | CA1495815104 | PABPC4L | c.212T= (p.Met71=) c.386T= (p.Met129=) n.751T= n.746T= | |
4 | g.134200808A>C | CA358375578 | PABPC4L | c.212T>G (p.Met71Arg) c.386T>G (p.Met129Arg) n.751T>G n.746T>G | |
4 | g.134200808A>G | CA358375579 | PABPC4L | c.212T>C (p.Met71Thr) c.386T>C (p.Met129Thr) n.751T>C n.746T>C | gnomAD v4 |
4 | g.134200808A>T | CA358375580 | PABPC4L | c.212T>A (p.Met71Lys) c.386T>A (p.Met129Lys) n.751T>A n.746T>A | dbSNP gnomAD v4 |
4 | g.134200809T>A | CA358375581 | PABPC4L | c.211A>T (p.Met71Leu) c.385A>T (p.Met129Leu) n.750A>T n.745A>T | gnomAD v4 |
4 | g.134200809T>C | CA3081083 | PABPC4L | c.211A>G (p.Met71Val) c.385A>G (p.Met129Val) n.750A>G n.745A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200809T>G | CA358375582 | PABPC4L | c.211A>C (p.Met71Leu) c.385A>C (p.Met129Leu) n.750A>C n.745A>C | |
4 | g.134200809T= | CA1495815107 | PABPC4L | c.211A= (p.Met71=) c.385A= (p.Met129=) n.750A= n.745A= | |
4 | g.134200810T>A | CA441362079 | PABPC4L | c.210A>T (p.Thr70=) c.384A>T (p.Thr128=) n.749A>T n.744A>T | |
4 | g.134200810T>C | CA441362077 | PABPC4L | c.210A>G (p.Thr70=) c.384A>G (p.Thr128=) n.749A>G n.744A>G | |
4 | g.134200810T>G | CA441362078 | PABPC4L | c.210A>C (p.Thr70=) c.384A>C (p.Thr128=) n.749A>C n.744A>C | dbSNP gnomAD v4 |
4 | g.134200810T= | CA1495815109 | PABPC4L | c.210A= (p.Thr70=) c.384A= (p.Thr128=) n.749A= n.744A= | |
4 | g.134200811G>A | CA358375583 | PABPC4L | c.209C>T (p.Thr70Ile) c.383C>T (p.Thr128Ile) n.748C>T n.743C>T | dbSNP |
4 | g.134200811G>C | CA358375584 | PABPC4L | c.209C>G (p.Thr70Arg) c.383C>G (p.Thr128Arg) n.748C>G n.743C>G | |
4 | g.134200811G>T | CA358375585 | PABPC4L | c.209C>A (p.Thr70Lys) c.383C>A (p.Thr128Lys) n.748C>A n.743C>A | |
4 | g.134200812T>A | CA358375586 | PABPC4L | c.208A>T (p.Thr70Ser) c.382A>T (p.Thr128Ser) n.747A>T n.742A>T | |
4 | g.134200812T>C | CA3081085 | PABPC4L | c.208A>G (p.Thr70Ala) c.382A>G (p.Thr128Ala) n.747A>G n.742A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200812T>G | CA3081084 | PABPC4L | c.208A>C (p.Thr70Pro) c.382A>C (p.Thr128Pro) n.747A>C n.742A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.134200812T= | CA1495815111 | PABPC4L | c.208A= (p.Thr70=) c.382A= (p.Thr128=) n.747A= n.742A= | |
4 | g.134200813G>A | CA441362080 | PABPC4L | c.207C>T (p.Asp69=) c.381C>T (p.Asp127=) n.746C>T n.741C>T | |
4 | g.134200813G>C | CA358375587 | PABPC4L | c.207C>G (p.Asp69Glu) c.381C>G (p.Asp127Glu) n.746C>G n.741C>G | |
4 | g.134200813G>T | CA358375588 | PABPC4L | c.207C>A (p.Asp69Glu) c.381C>A (p.Asp127Glu) n.746C>A n.741C>A | gnomAD v4 |
4 | g.134200814T>A | CA358375589 | PABPC4L | c.206A>T (p.Asp69Val) c.380A>T (p.Asp127Val) n.745A>T n.740A>T | |
4 | g.134200814T>C | CA358375590 | PABPC4L | c.206A>G (p.Asp69Gly) c.380A>G (p.Asp127Gly) n.745A>G n.740A>G | |
4 | g.134200814T>G | CA358375591 | PABPC4L | c.206A>C (p.Asp69Ala) c.380A>C (p.Asp127Ala) n.745A>C n.740A>C | |
4 | g.134200815C>A | CA358375592 | PABPC4L | c.205G>T (p.Asp69Tyr) c.379G>T (p.Asp127Tyr) n.744G>T n.739G>T | |
4 | g.134200815C>G | CA358375593 | PABPC4L | c.205G>C (p.Asp69His) c.379G>C (p.Asp127His) n.744G>C n.739G>C | |
4 | g.134200815C>T | CA358375594 | PABPC4L | c.205G>A (p.Asp69Asn) c.379G>A (p.Asp127Asn) n.744G>A n.739G>A | |
4 | g.134200816C>A | CA441362081 | PABPC4L | c.204G>T (p.Leu68=) c.378G>T (p.Leu126=) n.743G>T n.738G>T | |
4 | g.134200816C>G | CA441362082 | PABPC4L | c.204G>C (p.Leu68=) c.378G>C (p.Leu126=) n.743G>C n.738G>C | |
4 | g.134200816C>T | CA441362083 | PABPC4L | c.204G>A (p.Leu68=) c.378G>A (p.Leu126=) n.743G>A n.738G>A | gnomAD v4 |
4 | g.134200817A= | CA1495815114 | PABPC4L | c.203T= (p.Leu68=) c.377T= (p.Leu126=) n.742T= n.737T= | |
4 | g.134200817A>C | CA3081086 | PABPC4L | c.203T>G (p.Leu68Arg) c.377T>G (p.Leu126Arg) n.742T>G n.737T>G | dbSNP ExAC gnomAD v2 |
4 | g.134200817A>G | CA358375595 | PABPC4L | c.203T>C (p.Leu68Pro) c.377T>C (p.Leu126Pro) n.742T>C n.737T>C | |
4 | g.134200817A>T | CA106325850 | PABPC4L | c.203T>A (p.Leu68Gln) c.377T>A (p.Leu126Gln) n.742T>A n.737T>A | dbSNP gnomAD v4 |
4 | g.134200818G>A | CA441362084 | PABPC4L | c.202C>T (p.Leu68=) c.376C>T (p.Leu126=) n.741C>T n.736C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.134200818G>C | CA358375597 | PABPC4L | c.202C>G (p.Leu68Val) c.376C>G (p.Leu126Val) n.741C>G n.736C>G | |
4 | g.134200818G= | CA1495815119 | PABPC4L | c.202C= (p.Leu68=) c.376C= (p.Leu126=) n.741C= n.736C= | |
4 | g.134200818G>T | CA358375596 | PABPC4L | c.202C>A (p.Leu68Met) c.376C>A (p.Leu126Met) n.741C>A n.736C>A | |
4 | g.134200819C>A | CA106325852 | PABPC4L | c.201G>T (p.Ala67=) c.375G>T (p.Ala125=) n.740G>T n.735G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200819C= | CA1495815123 | PABPC4L | c.201G= (p.Ala67=) c.375G= (p.Ala125=) n.740G= n.735G= | |
4 | g.134200819C>G | CA441362085 | PABPC4L | c.201G>C (p.Ala67=) c.375G>C (p.Ala125=) n.740G>C n.735G>C | |
4 | g.134200819C>T | CA441362086 | PABPC4L | c.201G>A (p.Ala67=) c.375G>A (p.Ala125=) n.740G>A n.735G>A | gnomAD v4 COSMIC COSMIC |
4 | g.134200820G>A | CA358375598 | PABPC4L | c.200C>T (p.Ala67Val) c.374C>T (p.Ala125Val) n.739C>T n.734C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.134200820G>C | CA358375599 | PABPC4L | c.200C>G (p.Ala67Gly) c.374C>G (p.Ala125Gly) n.739C>G n.734C>G | |
4 | g.134200820G= | CA1495815125 | PABPC4L | c.200C= (p.Ala67=) c.374C= (p.Ala125=) n.739C= n.734C= | |
4 | g.134200820G>T | CA358375600 | PABPC4L | c.200C>A (p.Ala67Glu) c.374C>A (p.Ala125Glu) n.739C>A n.734C>A | |
4 | g.134200821C>A | CA358375601 | PABPC4L | c.199G>T (p.Ala67Ser) c.373G>T (p.Ala125Ser) n.738G>T n.733G>T | |
4 | g.134200821C>G | CA358375602 | PABPC4L | c.199G>C (p.Ala67Pro) c.373G>C (p.Ala125Pro) n.738G>C n.733G>C | |
4 | g.134200821C>T | CA358375603 | PABPC4L | c.199G>A (p.Ala67Thr) c.373G>A (p.Ala125Thr) n.738G>A n.733G>A | gnomAD v4 |
4 | g.134200822C>A | CA358375604 | PABPC4L | c.198G>T (p.Lys66Asn) c.372G>T (p.Lys124Asn) n.737G>T n.732G>T | |
4 | g.134200822C>G | CA358375605 | PABPC4L | c.198G>C (p.Lys66Asn) c.372G>C (p.Lys124Asn) n.737G>C n.732G>C | |
4 | g.134200822C>T | CA441362087 | PABPC4L | c.198G>A (p.Lys66=) c.372G>A (p.Lys124=) n.737G>A n.732G>A | gnomAD v4 |
4 | g.134200823T>A | CA358375606 | PABPC4L | c.197A>T (p.Lys66Met) c.371A>T (p.Lys124Met) n.736A>T n.731A>T | |
4 | g.134200823T>C | CA358375607 | PABPC4L | c.197A>G (p.Lys66Arg) c.371A>G (p.Lys124Arg) n.736A>G n.731A>G | |
4 | g.134200823T>G | CA358375608 | PABPC4L | c.197A>C (p.Lys66Thr) c.371A>C (p.Lys124Thr) n.736A>C n.731A>C | |
4 | g.134200824T>A | CA358375610 | PABPC4L | c.196A>T (p.Lys66Ter) c.370A>T (p.Lys124Ter) n.735A>T n.730A>T | |
4 | g.134200824T>C | CA358375611 | PABPC4L | c.196A>G (p.Lys66Glu) c.370A>G (p.Lys124Glu) n.735A>G n.730A>G | dbSNP |
4 | g.134200824T>G | CA358375609 | PABPC4L | c.196A>C (p.Lys66Gln) c.370A>C (p.Lys124Gln) n.735A>C n.730A>C | dbSNP gnomAD v4 |
4 | g.134200824T= | CA1495815127 | PABPC4L | c.196A= (p.Lys66=) c.370A= (p.Lys124=) n.735A= n.730A= | |
4 | g.134200825C>A | CA358375613 | PABPC4L | c.195G>T (p.Gln65His) c.369G>T (p.Gln123His) n.734G>T n.729G>T | gnomAD v4 |
4 | g.134200825C>G | CA358375612 | PABPC4L | c.195G>C (p.Gln65His) c.369G>C (p.Gln123His) n.734G>C n.729G>C | |
4 | g.134200825C>T | CA441362088 | PABPC4L | c.195G>A (p.Gln65=) c.369G>A (p.Gln123=) n.734G>A n.729G>A | |
4 | g.134200826T>A | CA358375614 | PABPC4L | c.194A>T (p.Gln65Leu) c.368A>T (p.Gln123Leu) n.733A>T n.728A>T | |
4 | g.134200826T>C | CA358375615 | PABPC4L | c.194A>G (p.Gln65Arg) c.368A>G (p.Gln123Arg) n.733A>G n.728A>G | |
4 | g.134200826T>G | CA358375616 | PABPC4L | c.194A>C (p.Gln65Pro) c.368A>C (p.Gln123Pro) n.733A>C n.728A>C | |
4 | g.134200827G>A | CA358375617 | PABPC4L | c.193C>T (p.Gln65Ter) c.367C>T (p.Gln123Ter) n.732C>T n.727C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200827G>C | CA358375618 | PABPC4L | c.193C>G (p.Gln65Glu) c.367C>G (p.Gln123Glu) n.732C>G n.727C>G | |
4 | g.134200827G= | CA1495815128 | PABPC4L | c.193C= (p.Gln65=) c.367C= (p.Gln123=) n.732C= n.727C= | |
4 | g.134200827G>T | CA358375619 | PABPC4L | c.193C>A (p.Gln65Lys) c.367C>A (p.Gln123Lys) n.732C>A n.727C>A | gnomAD v4 |
4 | g.134200828G>A | CA441362089 | PABPC4L | c.192C>T (p.Ala64=) c.366C>T (p.Ala122=) n.731C>T n.726C>T | gnomAD v4 |
4 | g.134200828G>C | CA441362090 | PABPC4L | c.192C>G (p.Ala64=) c.366C>G (p.Ala122=) n.731C>G n.726C>G | |
4 | g.134200828G>T | CA441362091 | PABPC4L | c.192C>A (p.Ala64=) c.366C>A (p.Ala122=) n.731C>A n.726C>A | |
4 | g.134200829G>A | CA358375620 | PABPC4L | c.191C>T (p.Ala64Val) c.365C>T (p.Ala122Val) n.730C>T n.725C>T | gnomAD v4 |
4 | g.134200829G>C | CA358375621 | PABPC4L | c.191C>G (p.Ala64Gly) c.365C>G (p.Ala122Gly) n.730C>G n.725C>G | |
4 | g.134200829G>T | CA358375622 | PABPC4L | c.191C>A (p.Ala64Asp) c.365C>A (p.Ala122Asp) n.730C>A n.725C>A | |
4 | g.134200830C>A | CA358375623 | PABPC4L | c.190G>T (p.Ala64Ser) c.364G>T (p.Ala122Ser) n.729G>T n.724G>T | gnomAD v4 |
4 | g.134200830C>G | CA358375624 | PABPC4L | c.190G>C (p.Ala64Pro) c.364G>C (p.Ala122Pro) n.729G>C n.724G>C | |
4 | g.134200830C>T | CA358375625 | PABPC4L | c.190G>A (p.Ala64Thr) c.364G>A (p.Ala122Thr) n.729G>A n.724G>A | gnomAD v4 |
4 | g.134200831A>C | CA358375626 | PABPC4L | c.189T>G (p.Asp63Glu) c.363T>G (p.Asp121Glu) n.728T>G n.723T>G | |
4 | g.134200831A>G | CA441362092 | PABPC4L | c.189T>C (p.Asp63=) c.363T>C (p.Asp121=) n.728T>C n.723T>C | |
4 | g.134200831A>T | CA358375627 | PABPC4L | c.189T>A (p.Asp63Glu) c.363T>A (p.Asp121Glu) n.728T>A n.723T>A | |
4 | g.134200832T>A | CA358375628 | PABPC4L | c.188A>T (p.Asp63Val) c.362A>T (p.Asp121Val) n.727A>T n.722A>T | |
4 | g.134200832T>C | CA358375629 | PABPC4L | c.188A>G (p.Asp63Gly) c.362A>G (p.Asp121Gly) n.727A>G n.722A>G | dbSNP |
4 | g.134200832T>G | CA358375630 | PABPC4L | c.188A>C (p.Asp63Ala) c.362A>C (p.Asp121Ala) n.727A>C n.722A>C | |
4 | g.134200832T= | CA1495815131 | PABPC4L | c.188A= (p.Asp63=) c.362A= (p.Asp121=) n.727A= n.722A= | |
4 | g.134200833C>A | CA358375631 | PABPC4L | c.187G>T (p.Asp63Tyr) c.361G>T (p.Asp121Tyr) n.726G>T n.721G>T | |
4 | g.134200833C>G | CA358375632 | PABPC4L | c.187G>C (p.Asp63His) c.361G>C (p.Asp121His) n.726G>C n.721G>C | |
4 | g.134200833C>T | CA358375633 | PABPC4L | c.187G>A (p.Asp63Asn) c.361G>A (p.Asp121Asn) n.726G>A n.721G>A | |
4 | g.134200834A>C | CA441362093 | PABPC4L | c.186T>G (p.Ala62=) c.360T>G (p.Ala120=) n.725T>G n.720T>G | |
4 | g.134200834A>G | CA441362094 | PABPC4L | c.186T>C (p.Ala62=) c.360T>C (p.Ala120=) n.725T>C n.720T>C | gnomAD v4 |
4 | g.134200834A>T | CA441362095 | PABPC4L | c.186T>A (p.Ala62=) c.360T>A (p.Ala120=) n.725T>A n.720T>A | |
4 | g.134200835G>A | CA358375634 | PABPC4L | c.185C>T (p.Ala62Val) c.359C>T (p.Ala120Val) n.724C>T n.719C>T | gnomAD v4 |
4 | g.134200835G>C | CA358375635 | PABPC4L | c.185C>G (p.Ala62Gly) c.359C>G (p.Ala120Gly) n.724C>G n.719C>G | |
4 | g.134200835G>T | CA358375636 | PABPC4L | c.185C>A (p.Ala62Asp) c.359C>A (p.Ala120Asp) n.724C>A n.719C>A | gnomAD v4 |
4 | g.134200836C>A | CA358375637 | PABPC4L | c.184G>T (p.Ala62Ser) c.358G>T (p.Ala120Ser) n.723G>T n.718G>T | gnomAD v4 |
4 | g.134200836C= | CA1495815135 | PABPC4L | c.184G= (p.Ala62=) c.358G= (p.Ala120=) n.723G= n.718G= | |
4 | g.134200836C>G | CA358375638 | PABPC4L | c.184G>C (p.Ala62Pro) c.358G>C (p.Ala120Pro) n.723G>C n.718G>C | |
4 | g.134200836C>T | CA3081087 | PABPC4L | c.184G>A (p.Ala62Thr) c.358G>A (p.Ala120Thr) n.723G>A n.718G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200837C>A | CA441362096 | PABPC4L | c.183G>T (p.Leu61=) c.357G>T (p.Leu119=) n.722G>T n.717G>T | gnomAD v4 |
4 | g.134200837C>G | CA441362098 | PABPC4L | c.183G>C (p.Leu61=) c.357G>C (p.Leu119=) n.722G>C n.717G>C | |
4 | g.134200837C>T | CA441362097 | PABPC4L | c.183G>A (p.Leu61=) c.357G>A (p.Leu119=) n.722G>A n.717G>A | gnomAD v4 |
4 | g.134200838A= | CA1495815139 | PABPC4L | c.182T= (p.Leu61=) c.356T= (p.Leu119=) n.721T= n.716T= | |
4 | g.134200838A>C | CA358375640 | PABPC4L | c.182T>G (p.Leu61Arg) c.356T>G (p.Leu119Arg) n.721T>G n.716T>G | |
4 | g.134200838A>G | CA358375641 | PABPC4L | c.182T>C (p.Leu61Pro) c.356T>C (p.Leu119Pro) n.721T>C n.716T>C | dbSNP gnomAD v2 gnomAD v4 |
4 | g.134200838A>T | CA358375639 | PABPC4L | c.182T>A (p.Leu61Gln) c.356T>A (p.Leu119Gln) n.721T>A n.716T>A | |
4 | g.134200839G>A | CA441362099 | PABPC4L | c.181C>T (p.Leu61=) c.355C>T (p.Leu119=) n.720C>T n.715C>T | dbSNP gnomAD v2 |
4 | g.134200839G>C | CA358375642 | PABPC4L | c.181C>G (p.Leu61Val) c.355C>G (p.Leu119Val) n.720C>G n.715C>G | |
4 | g.134200839G= | CA1495815142 | PABPC4L | c.181C= (p.Leu61=) c.355C= (p.Leu119=) n.720C= n.715C= | |
4 | g.134200839G>T | CA358375643 | PABPC4L | c.181C>A (p.Leu61Met) c.355C>A (p.Leu119Met) n.720C>A n.715C>A | |
4 | g.134200840C>A | CA358375644 | PABPC4L | c.180G>T (p.Gln60His) c.354G>T (p.Gln118His) n.719G>T n.714G>T | gnomAD v4 |
4 | g.134200840C>G | CA358375645 | PABPC4L | c.180G>C (p.Gln60His) c.354G>C (p.Gln118His) n.719G>C n.714G>C | |
4 | g.134200840C>T | CA441362100 | PABPC4L | c.180G>A (p.Gln60=) c.354G>A (p.Gln118=) n.719G>A n.714G>A | gnomAD v4 |
4 | g.134200841T>A | CA358375646 | PABPC4L | c.179A>T (p.Gln60Leu) c.353A>T (p.Gln118Leu) n.718A>T n.713A>T | gnomAD v4 |
4 | g.134200841T>C | CA358375647 | PABPC4L | c.179A>G (p.Gln60Arg) c.353A>G (p.Gln118Arg) n.718A>G n.713A>G | |
4 | g.134200841T>G | CA358375648 | PABPC4L | c.179A>C (p.Gln60Pro) c.353A>C (p.Gln118Pro) n.718A>C n.713A>C | |
4 | g.134200842G>A | CA358375649 | PABPC4L | c.178C>T (p.Gln60Ter) c.352C>T (p.Gln118Ter) n.717C>T n.712C>T | gnomAD v4 |
4 | g.134200842G>C | CA358375650 | PABPC4L | c.178C>G (p.Gln60Glu) c.352C>G (p.Gln118Glu) n.717C>G n.712C>G | |
4 | g.134200842G>T | CA358375651 | PABPC4L | c.178C>A (p.Gln60Lys) c.352C>A (p.Gln118Lys) n.717C>A n.712C>A | gnomAD v4 |