| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.244863508_244864169del | CA2580063520 | HNRNPU | c.143_634+170del n.328_819+170del n.374_922+113del c.143_691+113del n.367_858+170del n.327_818+170del | ClinVar |
| 1 | g.244863774_244863792del | CA645532140 | HNRNPU | c.197_215del c.519_537del (p.Gln174ProfsTer17) n.704_722del c.303_321del (p.Gln102ProfsTer17) n.750_768del c.219_237del (p.Gln74ProfsTer17) n.743_761del n.703_721del | COSMIC COSMIC |
| 1 | g.244863781_244863789del | CA2651343302 | HNRNPU | c.197_205del c.519_527del (p.Gln174_Gln176del) n.704_712del c.303_311del (p.Gln102_Gln104del) n.750_758del c.219_227del (p.Gln74_Gln76del) n.743_751del n.703_711del | gnomAD v4 |
| 1 | g.244863789_244863797dup | CA1486784 | HNRNPU | c.196_204dup c.518_526dup (p.Gln175_Gln176insProGlnGln) n.703_711dup c.302_310dup (p.Gln103_Gln104insProGlnGln) n.749_757dup c.218_226dup (p.Gln75_Gln76insProGlnGln) n.742_750dup n.702_710dup | dbSNP ExAC gnomAD v2 |
| 1 | g.244863786T>A | CA345496716 | HNRNPU | c.200A>T c.522A>T (p.Gln174His) n.707A>T c.306A>T (p.Gln102His) n.753A>T c.222A>T (p.Gln74His) n.746A>T n.706A>T | |
| 1 | g.244863786T>C | CA1486786 | HNRNPU | c.200A>G c.522A>G (p.Gln174=) n.707A>G c.306A>G (p.Gln102=) n.753A>G c.222A>G (p.Gln74=) n.746A>G n.706A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244863786T>G | CA345496718 | HNRNPU | c.200A>C c.522A>C (p.Gln174His) n.707A>C c.306A>C (p.Gln102His) n.753A>C c.222A>C (p.Gln74His) n.746A>C n.706A>C | |
| 1 | g.244863786T= | CA1231007438 | HNRNPU | c.200A= c.522A= (p.Gln174=) n.707A= c.306A= (p.Gln102=) n.753A= c.222A= (p.Gln74=) n.746A= n.706A= | |
| 1 | g.244863787T>A | CA345496721 | HNRNPU | c.199A>T c.521A>T (p.Gln174Leu) n.706A>T c.305A>T (p.Gln102Leu) n.752A>T c.221A>T (p.Gln74Leu) n.745A>T n.705A>T | |
| 1 | g.244863787T>C | CA345496723 | HNRNPU | c.199A>G c.521A>G (p.Gln174Arg) n.706A>G c.305A>G (p.Gln102Arg) n.752A>G c.221A>G (p.Gln74Arg) n.745A>G n.705A>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.244863787T>G | CA345496725 | HNRNPU | c.199A>C c.521A>C (p.Gln174Pro) n.706A>C c.305A>C (p.Gln102Pro) n.752A>C c.221A>C (p.Gln74Pro) n.745A>C n.705A>C | |
| 1 | g.244863787T= | CA1231007439 | HNRNPU | c.199A= c.521A= (p.Gln174=) n.706A= c.305A= (p.Gln102=) n.752A= c.221A= (p.Gln74=) n.745A= n.705A= | |
| 1 | g.244863788G>A | CA10602784 | HNRNPU | c.198C>T c.520C>T (p.Gln174Ter) n.705C>T c.304C>T (p.Gln102Ter) n.751C>T c.220C>T (p.Gln74Ter) n.744C>T n.704C>T | ClinVar dbSNP |
| 1 | g.244863788G>C | CA345496728 | HNRNPU | c.198C>G c.520C>G (p.Gln174Glu) n.705C>G c.304C>G (p.Gln102Glu) n.751C>G c.220C>G (p.Gln74Glu) n.744C>G n.704C>G | |
| 1 | g.244863788G= | CA1231007440 | HNRNPU | c.198C= c.520C= (p.Gln174=) n.705C= c.304C= (p.Gln102=) n.751C= c.220C= (p.Gln74=) n.744C= n.704C= | |
| 1 | g.244863788G>T | CA345496731 | HNRNPU | c.198C>A c.520C>A (p.Gln174Lys) n.705C>A c.304C>A (p.Gln102Lys) n.751C>A c.220C>A (p.Gln74Lys) n.744C>A n.704C>A | |
| 1 | g.244863791del | CA2573132982 | HNRNPU | c.198del c.520del (p.Gln174AsnfsTer23) n.705del c.304del (p.Gln102AsnfsTer23) n.751del c.220del (p.Gln74AsnfsTer23) n.744del n.704del | ClinVar dbSNP |
| 1 | g.244863789G>A | CA424402622 | HNRNPU | c.197C>T c.519C>T (p.Pro173=) n.704C>T c.303C>T (p.Pro101=) n.750C>T c.219C>T (p.Pro73=) n.743C>T n.703C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.244863789G>C | CA424402623 | HNRNPU | c.197C>G c.519C>G (p.Pro173=) n.704C>G c.303C>G (p.Pro101=) n.750C>G c.219C>G (p.Pro73=) n.743C>G n.703C>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.244863789G= | CA1231007441 | HNRNPU | c.197C= c.519C= (p.Pro173=) n.704C= c.303C= (p.Pro101=) n.750C= c.219C= (p.Pro73=) n.743C= n.703C= | |
| 1 | g.244863789G>T | CA424402624 | HNRNPU | c.197C>A c.519C>A (p.Pro173=) n.704C>A c.303C>A (p.Pro101=) n.750C>A c.219C>A (p.Pro73=) n.743C>A n.703C>A | |
| 1 | g.244863790G>A | CA345496737 | HNRNPU | c.196C>T c.518C>T (p.Pro173Leu) n.703C>T c.302C>T (p.Pro101Leu) n.749C>T c.218C>T (p.Pro73Leu) n.742C>T n.702C>T | gnomAD v4 |
| 1 | g.244863790G>C | CA345496734 | HNRNPU | c.196C>G c.518C>G (p.Pro173Arg) n.703C>G c.302C>G (p.Pro101Arg) n.749C>G c.218C>G (p.Pro73Arg) n.742C>G n.702C>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244863790G= | CA1231007442 | HNRNPU | c.196C= c.518C= (p.Pro173=) n.703C= c.302C= (p.Pro101=) n.749C= c.218C= (p.Pro73=) n.742C= n.702C= | |
| 1 | g.244863790G>T | CA345496735 | HNRNPU | c.196C>A c.518C>A (p.Pro173His) n.703C>A c.302C>A (p.Pro101His) n.749C>A c.218C>A (p.Pro73His) n.742C>A n.702C>A | |
| 1 | g.244863790_244863798dup | CA733938411 | HNRNPU | c.188_196dup c.510_518dup (p.Pro173_Gln174insGlnGlnPro) n.695_703dup c.294_302dup (p.Pro101_Gln102insGlnGlnPro) n.741_749dup c.210_218dup (p.Pro73_Gln74insGlnGlnPro) n.734_742dup n.694_702dup | dbSNP gnomAD v4 |
| 1 | g.244863791G>A | CA345496739 | HNRNPU | c.195C>T c.517C>T (p.Pro173Ser) n.702C>T c.301C>T (p.Pro101Ser) n.748C>T c.217C>T (p.Pro73Ser) n.741C>T n.701C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244863791G>C | CA345496741 | HNRNPU | c.195C>G c.517C>G (p.Pro173Ala) n.702C>G c.301C>G (p.Pro101Ala) n.748C>G c.217C>G (p.Pro73Ala) n.741C>G n.701C>G | dbSNP |
| 1 | g.244863791G= | CA1231007443 | HNRNPU | c.195C= c.517C= (p.Pro173=) n.702C= c.301C= (p.Pro101=) n.748C= c.217C= (p.Pro73=) n.741C= n.701C= | |
| 1 | g.244863791G>T | CA345496742 | HNRNPU | c.195C>A c.517C>A (p.Pro173Thr) n.702C>A c.301C>A (p.Pro101Thr) n.748C>A c.217C>A (p.Pro73Thr) n.741C>A n.701C>A | COSMIC COSMIC |
| 1 | g.244863792C>A | CA345496744 | HNRNPU | c.194G>T c.516G>T (p.Gln172His) n.701G>T c.300G>T (p.Gln100His) n.747G>T c.216G>T (p.Gln72His) n.740G>T n.700G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244863792C= | CA1231007444 | HNRNPU | c.194G= c.516G= (p.Gln172=) n.701G= c.300G= (p.Gln100=) n.747G= c.216G= (p.Gln72=) n.740G= n.700G= | |
| 1 | g.244863792C>G | CA345496745 | HNRNPU | c.194G>C c.516G>C (p.Gln172His) n.701G>C c.300G>C (p.Gln100His) n.747G>C c.216G>C (p.Gln72His) n.740G>C n.700G>C | ClinVar dbSNP |
| 1 | g.244863792C>T | CA424402630 | HNRNPU | c.194G>A c.516G>A (p.Gln172=) n.701G>A c.300G>A (p.Gln100=) n.747G>A c.216G>A (p.Gln72=) n.740G>A n.700G>A | |
| 1 | g.244863793T>A | CA345496748 | HNRNPU | c.193A>T c.515A>T (p.Gln172Leu) n.700A>T c.299A>T (p.Gln100Leu) n.746A>T c.215A>T (p.Gln72Leu) n.739A>T n.699A>T | |
| 1 | g.244863793T>C | CA345496749 | HNRNPU | c.193A>G c.515A>G (p.Gln172Arg) n.700A>G c.299A>G (p.Gln100Arg) n.746A>G c.215A>G (p.Gln72Arg) n.739A>G n.699A>G | dbSNP gnomAD v4 |
| 1 | g.244863793T>G | CA345496751 | HNRNPU | c.193A>C c.515A>C (p.Gln172Pro) n.700A>C c.299A>C (p.Gln100Pro) n.746A>C c.215A>C (p.Gln72Pro) n.739A>C n.699A>C | |
| 1 | g.244863793T= | CA1231007445 | HNRNPU | c.193A= c.515A= (p.Gln172=) n.700A= c.299A= (p.Gln100=) n.746A= c.215A= (p.Gln72=) n.739A= n.699A= | |
| 1 | g.244863794G>A | CA345496754 | HNRNPU | c.192C>T c.514C>T (p.Gln172Ter) n.699C>T c.298C>T (p.Gln100Ter) n.745C>T c.214C>T (p.Gln72Ter) n.738C>T n.698C>T | gnomAD v4 |
| 1 | g.244863794G>C | CA345496756 | HNRNPU | c.192C>G c.514C>G (p.Gln172Glu) n.699C>G c.298C>G (p.Gln100Glu) n.745C>G c.214C>G (p.Gln72Glu) n.738C>G n.698C>G | |
| 1 | g.244863794G>T | CA345496758 | HNRNPU | c.192C>A c.514C>A (p.Gln172Lys) n.699C>A c.298C>A (p.Gln100Lys) n.745C>A c.214C>A (p.Gln72Lys) n.738C>A n.698C>A | |
| 1 | g.244863795T>A | CA345496762 | HNRNPU | c.191A>T c.513A>T (p.Gln171His) n.698A>T c.297A>T (p.Gln99His) n.744A>T c.213A>T (p.Gln71His) n.737A>T n.697A>T | |
| 1 | g.244863795T>C | CA424402636 | HNRNPU | c.191A>G c.513A>G (p.Gln171=) n.698A>G c.297A>G (p.Gln99=) n.744A>G c.213A>G (p.Gln71=) n.737A>G n.697A>G | gnomAD v4 |
| 1 | g.244863795T>G | CA345496760 | HNRNPU | c.191A>C c.513A>C (p.Gln171His) n.698A>C c.297A>C (p.Gln99His) n.744A>C c.213A>C (p.Gln71His) n.737A>C n.697A>C | |
| 1 | g.244863795_244863798delinsTTGC | CA1231007446 | HNRNPU | c.188_191delinsGCAA c.510_513delinsGCAA (p.Gln170=) n.695_698delinsGCAA c.294_297delinsGCAA (p.Gln98=) n.741_744delinsGCAA c.210_213delinsGCAA (p.Gln70=) n.734_737delinsGCAA n.694_697delinsGCAA | |
| 1 | g.244863795_244863825delinsTTGCTGCTGCGTCGCCGGCGGTTGAGGCTGC | CA1231007447 | HNRNPU | c.161_191delinsGCAGCCTCAACCGCCGGCGACGCAGCAGCAA c.483_513delinsGCAGCCTCAACCGCCGGCGACGCAGCAGCAA (p.Gln161=) n.668_698delinsGCAGCCTCAACCGCCGGCGACGCAGCAGCAA c.267_297delinsGCAGCCTCAACCGCCGGCGACGCAGCAGCAA (p.Gln89=) n.714_744delinsGCAGCCTCAACCGCCGGCGACGCAGCAGCAA c.183_213delinsGCAGCCTCAACCGCCGGCGACGCAGCAGCAA (p.Gln61=) n.707_737delinsGCAGCCTCAACCGCCGGCGACGCAGCAGCAA n.667_697delinsGCAGCCTCAACCGCCGGCGACGCAGCAGCAA | |
| 1 | g.244863796T>A | CA345496764 | HNRNPU | c.190A>T c.512A>T (p.Gln171Leu) n.697A>T c.296A>T (p.Gln99Leu) n.743A>T c.212A>T (p.Gln71Leu) n.736A>T n.696A>T | |
| 1 | g.244863796T>C | CA345496766 | HNRNPU | c.190A>G c.512A>G (p.Gln171Arg) n.697A>G c.296A>G (p.Gln99Arg) n.743A>G c.212A>G (p.Gln71Arg) n.736A>G n.696A>G | |
| 1 | g.244863796T>G | CA345496768 | HNRNPU | c.190A>C c.512A>C (p.Gln171Pro) n.697A>C c.296A>C (p.Gln99Pro) n.743A>C c.212A>C (p.Gln71Pro) n.736A>C n.696A>C | |
| 1 | g.244863802_244863804dup | CA733938432 | HNRNPU | c.188_190dup c.510_512dup (p.Gln171_Gln172insGln) n.695_697dup c.294_296dup (p.Gln99_Gln100insGln) n.741_743dup c.210_212dup (p.Gln71_Gln72insGln) n.734_736dup n.694_696dup | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.244863802_244863804del | CA733938430 | HNRNPU | c.188_190del c.510_512del (p.Gln171del) n.695_697del c.294_296del (p.Gln99del) n.741_743del c.210_212del (p.Gln71del) n.734_736del n.694_696del | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.244863800_244863829del | CA1231007448 | HNRNPU | c.161_190del c.483_512del (p.Gln162_Gln171del) n.668_697del c.267_296del (p.Gln90_Gln99del) n.714_743del c.183_212del (p.Gln62_Gln71del) n.707_736del n.667_696del | dbSNP |
| 1 | g.244863797G>A | CA16609280 | HNRNPU | c.189C>T c.511C>T (p.Gln171Ter) n.696C>T c.295C>T (p.Gln99Ter) n.742C>T c.211C>T (p.Gln71Ter) n.735C>T n.695C>T | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.244863797G>C | CA345496770 | HNRNPU | c.189C>G c.511C>G (p.Gln171Glu) n.696C>G c.295C>G (p.Gln99Glu) n.742C>G c.211C>G (p.Gln71Glu) n.735C>G n.695C>G | dbSNP gnomAD v4 |
| 1 | g.244863797G= | CA1231007449 | HNRNPU | c.189C= c.511C= (p.Gln171=) n.696C= c.295C= (p.Gln99=) n.742C= c.211C= (p.Gln71=) n.735C= n.695C= | |
| 1 | g.244863797G>T | CA345496772 | HNRNPU | c.189C>A c.511C>A (p.Gln171Lys) n.696C>A c.295C>A (p.Gln99Lys) n.742C>A c.211C>A (p.Gln71Lys) n.735C>A n.695C>A | COSMIC COSMIC |
| 1 | g.244863798C>A | CA345496777 | HNRNPU | c.188G>T c.510G>T (p.Gln170His) n.695G>T c.294G>T (p.Gln98His) n.741G>T c.210G>T (p.Gln70His) n.734G>T n.694G>T | |
| 1 | g.244863798C= | CA1231007450 | HNRNPU | c.188G= c.510G= (p.Gln170=) n.695G= c.294G= (p.Gln98=) n.741G= c.210G= (p.Gln70=) n.734G= n.694G= | |
| 1 | g.244863798C>G | CA345496775 | HNRNPU | c.188G>C c.510G>C (p.Gln170His) n.695G>C c.294G>C (p.Gln98His) n.741G>C c.210G>C (p.Gln70His) n.734G>C n.694G>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244863798C>T | CA424402643 | HNRNPU | c.188G>A c.510G>A (p.Gln170=) n.695G>A c.294G>A (p.Gln98=) n.741G>A c.210G>A (p.Gln70=) n.734G>A n.694G>A | |
| 1 | g.244863799T>A | CA345496778 | HNRNPU | c.187A>T c.509A>T (p.Gln170Leu) n.694A>T c.293A>T (p.Gln98Leu) n.740A>T c.209A>T (p.Gln70Leu) n.733A>T n.693A>T | |
| 1 | g.244863799T>C | CA345496780 | HNRNPU | c.187A>G c.509A>G (p.Gln170Arg) n.694A>G c.293A>G (p.Gln98Arg) n.740A>G c.209A>G (p.Gln70Arg) n.733A>G n.693A>G | |
| 1 | g.244863799T>G | CA345496782 | HNRNPU | c.187A>C c.509A>C (p.Gln170Pro) n.694A>C c.293A>C (p.Gln98Pro) n.740A>C c.209A>C (p.Gln70Pro) n.733A>C n.693A>C | |
| 1 | g.244863800G>A | CA345496784 | HNRNPU | c.186C>T c.508C>T (p.Gln170Ter) n.693C>T c.292C>T (p.Gln98Ter) n.739C>T c.208C>T (p.Gln70Ter) n.732C>T n.692C>T | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.244863800G>C | CA345496786 | HNRNPU | c.186C>G c.508C>G (p.Gln170Glu) n.693C>G c.292C>G (p.Gln98Glu) n.739C>G c.208C>G (p.Gln70Glu) n.732C>G n.692C>G | |
| 1 | g.244863800G>T | CA345496787 | HNRNPU | c.186C>A c.508C>A (p.Gln170Lys) n.693C>A c.292C>A (p.Gln98Lys) n.739C>A c.208C>A (p.Gln70Lys) n.732C>A n.692C>A | |
| 1 | g.244863801C>A | CA345496789 | HNRNPU | c.185G>T c.507G>T (p.Gln169His) n.692G>T c.291G>T (p.Gln97His) n.738G>T c.207G>T (p.Gln69His) n.731G>T n.691G>T | |
| 1 | g.244863801C= | CA1141688745 | HNRNPU | c.185G= c.507G= (p.Gln169=) n.692G= c.291G= (p.Gln97=) n.738G= c.207G= (p.Gln69=) n.731G= n.691G= | |
| 1 | g.244863801C>G | CA345496791 | HNRNPU | c.185G>C c.507G>C (p.Gln169His) n.692G>C c.291G>C (p.Gln97His) n.738G>C c.207G>C (p.Gln69His) n.731G>C n.691G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244863801C>T | CA1486787 | HNRNPU | c.185G>A c.507G>A (p.Gln169=) n.692G>A c.291G>A (p.Gln97=) n.738G>A c.207G>A (p.Gln69=) n.731G>A n.691G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.244863802T>A | CA345496793 | HNRNPU | c.184A>T c.506A>T (p.Gln169Leu) n.691A>T c.290A>T (p.Gln97Leu) n.737A>T c.206A>T (p.Gln69Leu) n.730A>T n.690A>T | ClinVar gnomAD v4 |
| 1 | g.244863802T>C | CA345496794 | HNRNPU | c.184A>G c.506A>G (p.Gln169Arg) n.691A>G c.290A>G (p.Gln97Arg) n.737A>G c.206A>G (p.Gln69Arg) n.730A>G n.690A>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.244863802T>G | CA345496796 | HNRNPU | c.184A>C c.506A>C (p.Gln169Pro) n.691A>C c.290A>C (p.Gln97Pro) n.737A>C c.206A>C (p.Gln69Pro) n.730A>C n.690A>C | dbSNP |
| 1 | g.244863802T= | CA1231007451 | HNRNPU | c.184A= c.506A= (p.Gln169=) n.691A= c.290A= (p.Gln97=) n.737A= c.206A= (p.Gln69=) n.730A= n.690A= | |
| 1 | g.244863803G>A | CA345496799 | HNRNPU | c.183C>T c.505C>T (p.Gln169Ter) n.690C>T c.289C>T (p.Gln97Ter) n.736C>T c.205C>T (p.Gln69Ter) n.729C>T n.689C>T | |
| 1 | g.244863803G>C | CA345496801 | HNRNPU | c.183C>G c.505C>G (p.Gln169Glu) n.690C>G c.289C>G (p.Gln97Glu) n.736C>G c.205C>G (p.Gln69Glu) n.729C>G n.689C>G | |
| 1 | g.244863803G>T | CA345496802 | HNRNPU | c.183C>A c.505C>A (p.Gln169Lys) n.690C>A c.289C>A (p.Gln97Lys) n.736C>A c.205C>A (p.Gln69Lys) n.729C>A n.689C>A | gnomAD v4 |
| 1 | g.244863804C>A | CA424402647 | HNRNPU | c.182G>T c.504G>T (p.Thr168=) n.689G>T c.288G>T (p.Thr96=) n.735G>T c.204G>T (p.Thr68=) n.728G>T n.688G>T | |
| 1 | g.244863804C= | CA1231007452 | HNRNPU | c.182G= c.504G= (p.Thr168=) n.689G= c.288G= (p.Thr96=) n.735G= c.204G= (p.Thr68=) n.728G= n.688G= | |
| 1 | g.244863804C>G | CA424402648 | HNRNPU | c.182G>C c.504G>C (p.Thr168=) n.689G>C c.288G>C (p.Thr96=) n.735G>C c.204G>C (p.Thr68=) n.728G>C n.688G>C | |
| 1 | g.244863804C>T | CA424402649 | HNRNPU | c.182G>A c.504G>A (p.Thr168=) n.689G>A c.288G>A (p.Thr96=) n.735G>A c.204G>A (p.Thr68=) n.728G>A n.688G>A | dbSNP gnomAD v2 |
| 1 | g.244863805G>A | CA345496805 | HNRNPU | c.181C>T c.503C>T (p.Thr168Met) n.688C>T c.287C>T (p.Thr96Met) n.734C>T c.203C>T (p.Thr68Met) n.727C>T n.687C>T | ClinVar gnomAD v4 |
| 1 | g.244863805G>C | CA345496807 | HNRNPU | c.181C>G c.503C>G (p.Thr168Arg) n.688C>G c.287C>G (p.Thr96Arg) n.734C>G c.203C>G (p.Thr68Arg) n.727C>G n.687C>G | gnomAD v4 |
| 1 | g.244863805G>T | CA345496809 | HNRNPU | c.181C>A c.503C>A (p.Thr168Lys) n.688C>A c.287C>A (p.Thr96Lys) n.734C>A c.203C>A (p.Thr68Lys) n.727C>A n.687C>A | |
| 1 | g.244863806T>A | CA1486788 | HNRNPU | c.180A>T c.502A>T (p.Thr168Ser) n.687A>T c.286A>T (p.Thr96Ser) n.733A>T c.202A>T (p.Thr68Ser) n.726A>T n.686A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244863806T>C | CA345496813 | HNRNPU | c.180A>G c.502A>G (p.Thr168Ala) n.687A>G c.286A>G (p.Thr96Ala) n.733A>G c.202A>G (p.Thr68Ala) n.726A>G n.686A>G | dbSNP |
| 1 | g.244863806T>G | CA345496815 | HNRNPU | c.180A>C c.502A>C (p.Thr168Pro) n.687A>C c.286A>C (p.Thr96Pro) n.733A>C c.202A>C (p.Thr68Pro) n.726A>C n.686A>C | |
| 1 | g.244863806T= | CA1231007453 | HNRNPU | c.180A= c.502A= (p.Thr168=) n.687A= c.286A= (p.Thr96=) n.733A= c.202A= (p.Thr68=) n.726A= n.686A= | |
| 1 | g.244863807C>A | CA424402652 | HNRNPU | c.179G>T c.501G>T (p.Ala167=) n.686G>T c.285G>T (p.Ala95=) n.732G>T c.201G>T (p.Ala67=) n.725G>T n.685G>T | |
| 1 | g.244863807C>G | CA424402653 | HNRNPU | c.179G>C c.501G>C (p.Ala167=) n.686G>C c.285G>C (p.Ala95=) n.732G>C c.201G>C (p.Ala67=) n.725G>C n.685G>C | |
| 1 | g.244863807C>T | CA424402654 | HNRNPU | c.179G>A c.501G>A (p.Ala167=) n.686G>A c.285G>A (p.Ala95=) n.732G>A c.201G>A (p.Ala67=) n.725G>A n.685G>A | dbSNP |
| 1 | g.244863808G>A | CA1486789 | HNRNPU | c.178C>T c.500C>T (p.Ala167Val) n.685C>T c.284C>T (p.Ala95Val) n.731C>T c.200C>T (p.Ala67Val) n.724C>T n.684C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244863808G>C | CA345496819 | HNRNPU | c.178C>G c.500C>G (p.Ala167Gly) n.685C>G c.284C>G (p.Ala95Gly) n.731C>G c.200C>G (p.Ala67Gly) n.724C>G n.684C>G | |
| 1 | g.244863808G= | CA1231007454 | HNRNPU | c.178C= c.500C= (p.Ala167=) n.685C= c.284C= (p.Ala95=) n.731C= c.200C= (p.Ala67=) n.724C= n.684C= | |
| 1 | g.244863808G>T | CA345496817 | HNRNPU | c.178C>A c.500C>A (p.Ala167Glu) n.685C>A c.284C>A (p.Ala95Glu) n.731C>A c.200C>A (p.Ala67Glu) n.724C>A n.684C>A | |
| 1 | g.244863809C>A | CA345496825 | HNRNPU | c.177G>T c.499G>T (p.Ala167Ser) n.684G>T c.283G>T (p.Ala95Ser) n.730G>T c.199G>T (p.Ala67Ser) n.723G>T n.683G>T | |
| 1 | g.244863809C>G | CA345496822 | HNRNPU | c.177G>C c.499G>C (p.Ala167Pro) n.684G>C c.283G>C (p.Ala95Pro) n.730G>C c.199G>C (p.Ala67Pro) n.723G>C n.683G>C | |
| 1 | g.244863809C>T | CA345496823 | HNRNPU | c.177G>A c.499G>A (p.Ala167Thr) n.684G>A c.283G>A (p.Ala95Thr) n.730G>A c.199G>A (p.Ala67Thr) n.723G>A n.683G>A | |
| 1 | g.244863810C>A | CA424402655 | HNRNPU | c.176G>T c.498G>T (p.Pro166=) n.683G>T c.282G>T (p.Pro94=) n.729G>T c.198G>T (p.Pro66=) n.722G>T n.682G>T | |
| 1 | g.244863810C>G | CA424402656 | HNRNPU | c.176G>C c.498G>C (p.Pro166=) n.683G>C c.282G>C (p.Pro94=) n.729G>C c.198G>C (p.Pro66=) n.722G>C n.682G>C | |
| 1 | g.244863810C>T | CA424402657 | HNRNPU | c.176G>A c.498G>A (p.Pro166=) n.683G>A c.282G>A (p.Pro94=) n.729G>A c.198G>A (p.Pro66=) n.722G>A n.682G>A | |
| 1 | g.244863811G>A | CA345496828 | HNRNPU | c.175C>T c.497C>T (p.Pro166Leu) n.682C>T c.281C>T (p.Pro94Leu) n.728C>T c.197C>T (p.Pro66Leu) n.721C>T n.681C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244863811G>C | CA345496830 | HNRNPU | c.175C>G c.497C>G (p.Pro166Arg) n.682C>G c.281C>G (p.Pro94Arg) n.728C>G c.197C>G (p.Pro66Arg) n.721C>G n.681C>G | |
| 1 | g.244863811G= | CA1231007455 | HNRNPU | c.175C= c.497C= (p.Pro166=) n.682C= c.281C= (p.Pro94=) n.728C= c.197C= (p.Pro66=) n.721C= n.681C= | |
| 1 | g.244863811G>T | CA345496832 | HNRNPU | c.175C>A c.497C>A (p.Pro166Gln) n.682C>A c.281C>A (p.Pro94Gln) n.728C>A c.197C>A (p.Pro66Gln) n.721C>A n.681C>A | |
| 1 | g.244863812G>A | CA345496833 | HNRNPU | c.174C>T c.496C>T (p.Pro166Ser) n.681C>T c.280C>T (p.Pro94Ser) n.727C>T c.196C>T (p.Pro66Ser) n.720C>T n.680C>T | COSMIC |
| 1 | g.244863812G>C | CA345496836 | HNRNPU | c.174C>G c.496C>G (p.Pro166Ala) n.681C>G c.280C>G (p.Pro94Ala) n.727C>G c.196C>G (p.Pro66Ala) n.720C>G n.680C>G | |
| 1 | g.244863812G>T | CA345496838 | HNRNPU | c.174C>A c.496C>A (p.Pro166Thr) n.681C>A c.280C>A (p.Pro94Thr) n.727C>A c.196C>A (p.Pro66Thr) n.720C>A n.680C>A | |
| 1 | g.244863813C>A | CA424402659 | HNRNPU | c.173G>T c.495G>T (p.Pro165=) n.680G>T c.279G>T (p.Pro93=) n.726G>T c.195G>T (p.Pro65=) n.719G>T n.679G>T | |
| 1 | g.244863813C= | CA1231007456 | HNRNPU | c.173G= c.495G= (p.Pro165=) n.680G= c.279G= (p.Pro93=) n.726G= c.195G= (p.Pro65=) n.719G= n.679G= | |
| 1 | g.244863813C>G | CA424402660 | HNRNPU | c.173G>C c.495G>C (p.Pro165=) n.680G>C c.279G>C (p.Pro93=) n.726G>C c.195G>C (p.Pro65=) n.719G>C n.679G>C | |
| 1 | g.244863813C>T | CA424402658 | HNRNPU | c.173G>A c.495G>A (p.Pro165=) n.680G>A c.279G>A (p.Pro93=) n.726G>A c.195G>A (p.Pro65=) n.719G>A n.679G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244863814G>A | CA345496840 | HNRNPU | c.172C>T c.494C>T (p.Pro165Leu) n.679C>T c.278C>T (p.Pro93Leu) n.725C>T c.194C>T (p.Pro65Leu) n.718C>T n.678C>T | ClinVar gnomAD v4 |
| 1 | g.244863814G>C | CA345496842 | HNRNPU | c.172C>G c.494C>G (p.Pro165Arg) n.679C>G c.278C>G (p.Pro93Arg) n.725C>G c.194C>G (p.Pro65Arg) n.718C>G n.678C>G | dbSNP |
| 1 | g.244863814G= | CA1231007457 | HNRNPU | c.172C= c.494C= (p.Pro165=) n.679C= c.278C= (p.Pro93=) n.725C= c.194C= (p.Pro65=) n.718C= n.678C= | |
| 1 | g.244863814G>T | CA345496844 | HNRNPU | c.172C>A c.494C>A (p.Pro165Gln) n.679C>A c.278C>A (p.Pro93Gln) n.725C>A c.194C>A (p.Pro65Gln) n.718C>A n.678C>A | gnomAD v4 |
| 1 | g.244863815G>A | CA345496846 | HNRNPU | c.171C>T c.493C>T (p.Pro165Ser) n.678C>T c.277C>T (p.Pro93Ser) n.724C>T c.193C>T (p.Pro65Ser) n.717C>T n.677C>T | dbSNP gnomAD v4 |
| 1 | g.244863815G>C | CA345496848 | HNRNPU | c.171C>G c.493C>G (p.Pro165Ala) n.678C>G c.277C>G (p.Pro93Ala) n.724C>G c.193C>G (p.Pro65Ala) n.717C>G n.677C>G | |
| 1 | g.244863815G= | CA1231007458 | HNRNPU | c.171C= c.493C= (p.Pro165=) n.678C= c.277C= (p.Pro93=) n.724C= c.193C= (p.Pro65=) n.717C= n.677C= | |
| 1 | g.244863815G>T | CA345496849 | HNRNPU | c.171C>A c.493C>A (p.Pro165Thr) n.678C>A c.277C>A (p.Pro93Thr) n.724C>A c.193C>A (p.Pro65Thr) n.717C>A n.677C>A | |
| 1 | g.244863816T>A | CA345496851 | HNRNPU | c.170A>T c.492A>T (p.Gln164His) n.677A>T c.276A>T (p.Gln92His) n.723A>T c.192A>T (p.Gln64His) n.716A>T n.676A>T | |
| 1 | g.244863816T>C | CA40505095 | HNRNPU | c.170A>G c.492A>G (p.Gln164=) n.677A>G c.276A>G (p.Gln92=) n.723A>G c.192A>G (p.Gln64=) n.716A>G n.676A>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.244863816T>G | CA345496856 | HNRNPU | c.170A>C c.492A>C (p.Gln164His) n.677A>C c.276A>C (p.Gln92His) n.723A>C c.192A>C (p.Gln64His) n.716A>C n.676A>C | dbSNP |
| 1 | g.244863816T= | CA1231007459 | HNRNPU | c.170A= c.492A= (p.Gln164=) n.677A= c.276A= (p.Gln92=) n.723A= c.192A= (p.Gln64=) n.716A= n.676A= | |
| 1 | g.244863817T>A | CA345496857 | HNRNPU | c.169A>T c.491A>T (p.Gln164Leu) n.676A>T c.275A>T (p.Gln92Leu) n.722A>T c.191A>T (p.Gln64Leu) n.715A>T n.675A>T | |
| 1 | g.244863817T>C | CA345496858 | HNRNPU | c.169A>G c.491A>G (p.Gln164Arg) n.676A>G c.275A>G (p.Gln92Arg) n.722A>G c.191A>G (p.Gln64Arg) n.715A>G n.675A>G | |
| 1 | g.244863817T>G | CA345496859 | HNRNPU | c.169A>C c.491A>C (p.Gln164Pro) n.676A>C c.275A>C (p.Gln92Pro) n.722A>C c.191A>C (p.Gln64Pro) n.715A>C n.675A>C | dbSNP gnomAD v4 |
| 1 | g.244863818G>A | CA345496861 | HNRNPU | c.168C>T c.490C>T (p.Gln164Ter) n.675C>T c.274C>T (p.Gln92Ter) n.721C>T c.190C>T (p.Gln64Ter) n.714C>T n.674C>T | ClinVar |
| 1 | g.244863818G>C | CA345496863 | HNRNPU | c.168C>G c.490C>G (p.Gln164Glu) n.675C>G c.274C>G (p.Gln92Glu) n.721C>G c.190C>G (p.Gln64Glu) n.714C>G n.674C>G | |
| 1 | g.244863818G>T | CA345496864 | HNRNPU | c.168C>A c.490C>A (p.Gln164Lys) n.675C>A c.274C>A (p.Gln92Lys) n.721C>A c.190C>A (p.Gln64Lys) n.714C>A n.674C>A | |
| 1 | g.244863819A= | CA1231007460 | HNRNPU | c.167T= c.489T= (p.Pro163=) n.674T= c.273T= (p.Pro91=) n.720T= c.189T= (p.Pro63=) n.713T= n.673T= | |
| 1 | g.244863819A>C | CA1486790 | HNRNPU | c.167T>G c.489T>G (p.Pro163=) n.674T>G c.273T>G (p.Pro91=) n.720T>G c.189T>G (p.Pro63=) n.713T>G n.673T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244863819A>G | CA424402662 | HNRNPU | c.167T>C c.489T>C (p.Pro163=) n.674T>C c.273T>C (p.Pro91=) n.720T>C c.189T>C (p.Pro63=) n.713T>C n.673T>C | ClinVar dbSNP |
| 1 | g.244863819A>T | CA424402661 | HNRNPU | c.167T>A c.489T>A (p.Pro163=) n.674T>A c.273T>A (p.Pro91=) n.720T>A c.189T>A (p.Pro63=) n.713T>A n.673T>A | |
| 1 | g.244863820G>A | CA1486791 | HNRNPU | c.166C>T c.488C>T (p.Pro163Leu) n.673C>T c.272C>T (p.Pro91Leu) n.719C>T c.188C>T (p.Pro63Leu) n.712C>T n.672C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244863820G>C | CA345496866 | HNRNPU | c.166C>G c.488C>G (p.Pro163Arg) n.673C>G c.272C>G (p.Pro91Arg) n.719C>G c.188C>G (p.Pro63Arg) n.712C>G n.672C>G | |
| 1 | g.244863820G= | CA1231007461 | HNRNPU | c.166C= c.488C= (p.Pro163=) n.673C= c.272C= (p.Pro91=) n.719C= c.188C= (p.Pro63=) n.712C= n.672C= | |
| 1 | g.244863820G>T | CA345496868 | HNRNPU | c.166C>A c.488C>A (p.Pro163His) n.673C>A c.272C>A (p.Pro91His) n.719C>A c.188C>A (p.Pro63His) n.712C>A n.672C>A | gnomAD v4 |
| 1 | g.244863821G>A | CA345496871 | HNRNPU | c.165C>T c.487C>T (p.Pro163Ser) n.672C>T c.271C>T (p.Pro91Ser) n.718C>T c.187C>T (p.Pro63Ser) n.711C>T n.671C>T | ClinVar gnomAD v4 |
| 1 | g.244863821G>C | CA345496872 | HNRNPU | c.165C>G c.487C>G (p.Pro163Ala) n.672C>G c.271C>G (p.Pro91Ala) n.718C>G c.187C>G (p.Pro63Ala) n.711C>G n.671C>G | |
| 1 | g.244863821G>T | CA345496875 | HNRNPU | c.165C>A c.487C>A (p.Pro163Thr) n.672C>A c.271C>A (p.Pro91Thr) n.718C>A c.187C>A (p.Pro63Thr) n.711C>A n.671C>A | gnomAD v4 |
| 1 | g.244863827_244863829dup | CA1231007462 | HNRNPU | c.163_165dup c.485_487dup (p.Gln162_Pro163insGln) n.670_672dup c.269_271dup (p.Gln90_Pro91insGln) n.716_718dup c.185_187dup (p.Gln62_Pro63insGln) n.709_711dup n.669_671dup | dbSNP |
| 1 | g.244863822C>A | CA345496878 | HNRNPU | c.164G>T c.486G>T (p.Gln162His) n.671G>T c.270G>T (p.Gln90His) n.717G>T c.186G>T (p.Gln62His) n.710G>T n.670G>T | |
| 1 | g.244863822C>G | CA345496880 | HNRNPU | c.164G>C c.486G>C (p.Gln162His) n.671G>C c.270G>C (p.Gln90His) n.717G>C c.186G>C (p.Gln62His) n.710G>C n.670G>C | |
| 1 | g.244863822C>T | CA424402664 | HNRNPU | c.164G>A c.486G>A (p.Gln162=) n.671G>A c.270G>A (p.Gln90=) n.717G>A c.186G>A (p.Gln62=) n.710G>A n.670G>A | |
| 1 | g.244863823T>A | CA345496883 | HNRNPU | c.163A>T c.485A>T (p.Gln162Leu) n.670A>T c.269A>T (p.Gln90Leu) n.716A>T c.185A>T (p.Gln62Leu) n.709A>T n.669A>T | |
| 1 | g.244863823T>C | CA345496885 | HNRNPU | c.163A>G c.485A>G (p.Gln162Arg) n.670A>G c.269A>G (p.Gln90Arg) n.716A>G c.185A>G (p.Gln62Arg) n.709A>G n.669A>G | |
| 1 | g.244863823T>G | CA345496887 | HNRNPU | c.163A>C c.485A>C (p.Gln162Pro) n.670A>C c.269A>C (p.Gln90Pro) n.716A>C c.185A>C (p.Gln62Pro) n.709A>C n.669A>C | |
| 1 | g.244863823_244863824delinsTG | CA1231007463 | HNRNPU | c.162_163delinsCA c.484_485delinsCA (p.Gln162=) n.669_670delinsCA c.268_269delinsCA (p.Gln90=) n.715_716delinsCA c.184_185delinsCA (p.Gln62=) n.708_709delinsCA n.668_669delinsCA | |
| 1 | g.244863824del | CA658795664 | HNRNPU | c.162del c.484del (p.Gln162SerfsTer?) n.669del c.268del (p.Gln90SerfsTer?) n.715del c.184del (p.Gln62SerfsTer?) n.708del n.668del | ClinVar dbSNP |
| 1 | g.244863824G>A | CA345496890 | HNRNPU | c.162C>T c.484C>T (p.Gln162Ter) n.669C>T c.268C>T (p.Gln90Ter) n.715C>T c.184C>T (p.Gln62Ter) n.708C>T n.668C>T | ClinVar |
| 1 | g.244863824G>C | CA345496891 | HNRNPU | c.162C>G c.484C>G (p.Gln162Glu) n.669C>G c.268C>G (p.Gln90Glu) n.715C>G c.184C>G (p.Gln62Glu) n.708C>G n.668C>G | |
| 1 | g.244863824G>T | CA345496893 | HNRNPU | c.162C>A c.484C>A (p.Gln162Lys) n.669C>A c.268C>A (p.Gln90Lys) n.715C>A c.184C>A (p.Gln62Lys) n.708C>A n.668C>A | |
| 1 | g.244863825C>A | CA345496895 | HNRNPU | c.161G>T c.483G>T (p.Gln161His) n.668G>T c.267G>T (p.Gln89His) n.714G>T c.183G>T (p.Gln61His) n.707G>T n.667G>T | |
| 1 | g.244863825C= | CA1231007464 | HNRNPU | c.161G= c.483G= (p.Gln161=) n.668G= c.267G= (p.Gln89=) n.714G= c.183G= (p.Gln61=) n.707G= n.667G= | |
| 1 | g.244863825C>G | CA345496897 | HNRNPU | c.161G>C c.483G>C (p.Gln161His) n.668G>C c.267G>C (p.Gln89His) n.714G>C c.183G>C (p.Gln61His) n.707G>C n.667G>C | |
| 1 | g.244863825C>T | CA424402668 | HNRNPU | c.161G>A c.483G>A (p.Gln161=) n.668G>A c.267G>A (p.Gln89=) n.714G>A c.183G>A (p.Gln61=) n.707G>A n.667G>A | dbSNP gnomAD v4 |
| 1 | g.244863826T>A | CA345496900 | HNRNPU | c.160A>T c.482A>T (p.Gln161Leu) n.667A>T c.266A>T (p.Gln89Leu) n.713A>T c.182A>T (p.Gln61Leu) n.706A>T n.666A>T | |
| 1 | g.244863826T>C | CA345496901 | HNRNPU | c.160A>G c.482A>G (p.Gln161Arg) n.667A>G c.266A>G (p.Gln89Arg) n.713A>G c.182A>G (p.Gln61Arg) n.706A>G n.666A>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.244863826T>G | CA345496904 | HNRNPU | c.160A>C c.482A>C (p.Gln161Pro) n.667A>C c.266A>C (p.Gln89Pro) n.713A>C c.182A>C (p.Gln61Pro) n.706A>C n.666A>C | |
| 1 | g.244863826T= | CA1231007465 | HNRNPU | c.160A= c.482A= (p.Gln161=) n.667A= c.266A= (p.Gln89=) n.713A= c.182A= (p.Gln61=) n.706A= n.666A= | |
| 1 | g.244863827G>A | CA345496906 | HNRNPU | c.159C>T c.481C>T (p.Gln161Ter) n.666C>T c.265C>T (p.Gln89Ter) n.712C>T c.181C>T (p.Gln61Ter) n.705C>T n.665C>T | ClinVar dbSNP |
| 1 | g.244863827G>C | CA345496908 | HNRNPU | c.159C>G c.481C>G (p.Gln161Glu) n.666C>G c.265C>G (p.Gln89Glu) n.712C>G c.181C>G (p.Gln61Glu) n.705C>G n.665C>G | |
| 1 | g.244863827G= | CA1231007466 | HNRNPU | c.159C= c.481C= (p.Gln161=) n.666C= c.265C= (p.Gln89=) n.712C= c.181C= (p.Gln61=) n.705C= n.665C= | |
| 1 | g.244863827G>T | CA345496910 | HNRNPU | c.159C>A c.481C>A (p.Gln161Lys) n.666C>A c.265C>A (p.Gln89Lys) n.712C>A c.181C>A (p.Gln61Lys) n.705C>A n.665C>A | |
| 1 | g.244863828C>A | CA345496913 | HNRNPU | c.158G>T c.480G>T (p.Glu160Asp) n.665G>T c.264G>T (p.Glu88Asp) n.711G>T c.180G>T (p.Glu60Asp) n.704G>T n.664G>T | |
| 1 | g.244863828C>G | CA345496912 | HNRNPU | c.158G>C c.480G>C (p.Glu160Asp) n.665G>C c.264G>C (p.Glu88Asp) n.711G>C c.180G>C (p.Glu60Asp) n.704G>C n.664G>C | |
| 1 | g.244863828C>T | CA424402673 | HNRNPU | c.158G>A c.480G>A (p.Glu160=) n.665G>A c.264G>A (p.Glu88=) n.711G>A c.180G>A (p.Glu60=) n.704G>A n.664G>A | gnomAD v4 |
| 1 | g.244863829T>A | CA345496915 | HNRNPU | c.157A>T c.479A>T (p.Glu160Val) n.664A>T c.263A>T (p.Glu88Val) n.710A>T c.179A>T (p.Glu60Val) n.703A>T n.663A>T | ClinVar |
| 1 | g.244863829T>C | CA345496917 | HNRNPU | c.157A>G c.479A>G (p.Glu160Gly) n.664A>G c.263A>G (p.Glu88Gly) n.710A>G c.179A>G (p.Glu60Gly) n.703A>G n.663A>G | |
| 1 | g.244863829T>G | CA345496919 | HNRNPU | c.157A>C c.479A>C (p.Glu160Ala) n.664A>C c.263A>C (p.Glu88Ala) n.710A>C c.179A>C (p.Glu60Ala) n.703A>C n.663A>C | |
| 1 | g.244863830C>A | CA345496921 | HNRNPU | c.156G>T c.478G>T (p.Glu160Ter) n.663G>T c.262G>T (p.Glu88Ter) n.709G>T c.178G>T (p.Glu60Ter) n.702G>T n.662G>T | |
| 1 | g.244863830C= | CA1231007467 | HNRNPU | c.156G= c.478G= (p.Glu160=) n.663G= c.262G= (p.Glu88=) n.709G= c.178G= (p.Glu60=) n.702G= n.662G= | |
| 1 | g.244863830C>G | CA345496924 | HNRNPU | c.156G>C c.478G>C (p.Glu160Gln) n.663G>C c.262G>C (p.Glu88Gln) n.709G>C c.178G>C (p.Glu60Gln) n.702G>C n.662G>C | |
| 1 | g.244863830C>T | CA345496927 | HNRNPU | c.156G>A c.478G>A (p.Glu160Lys) n.663G>A c.262G>A (p.Glu88Lys) n.709G>A c.178G>A (p.Glu60Lys) n.702G>A n.662G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244863831C>A | CA424402676 | HNRNPU | c.155G>T c.477G>T (p.Gly159=) n.662G>T c.261G>T (p.Gly87=) n.708G>T c.177G>T (p.Gly59=) n.701G>T n.661G>T | gnomAD v4 |
| 1 | g.244863831C>G | CA424402677 | HNRNPU | c.155G>C c.477G>C (p.Gly159=) n.662G>C c.261G>C (p.Gly87=) n.708G>C c.177G>C (p.Gly59=) n.701G>C n.661G>C | |
| 1 | g.244863831C>T | CA424402680 | HNRNPU | c.155G>A c.477G>A (p.Gly159=) n.662G>A c.261G>A (p.Gly87=) n.708G>A c.177G>A (p.Gly59=) n.701G>A n.661G>A | |
| 1 | g.244863832C>A | CA345496928 | HNRNPU | c.154G>T c.476G>T (p.Gly159Val) n.661G>T c.260G>T (p.Gly87Val) n.707G>T c.176G>T (p.Gly59Val) n.700G>T n.660G>T | |
| 1 | g.244863832C>G | CA345496929 | HNRNPU | c.154G>C c.476G>C (p.Gly159Ala) n.661G>C c.260G>C (p.Gly87Ala) n.707G>C c.176G>C (p.Gly59Ala) n.700G>C n.660G>C | |
| 1 | g.244863832C>T | CA345496930 | HNRNPU | c.154G>A c.476G>A (p.Gly159Glu) n.661G>A c.260G>A (p.Gly87Glu) n.707G>A c.176G>A (p.Gly59Glu) n.700G>A n.660G>A | |
| 1 | g.244863833C>A | CA345496931 | HNRNPU | c.153G>T c.475G>T (p.Gly159Trp) n.660G>T c.259G>T (p.Gly87Trp) n.706G>T c.175G>T (p.Gly59Trp) n.699G>T n.659G>T | |
| 1 | g.244863833C= | CA1231007468 | HNRNPU | c.153G= c.475G= (p.Gly159=) n.660G= c.259G= (p.Gly87=) n.706G= c.175G= (p.Gly59=) n.699G= n.659G= | |
| 1 | g.244863833C>G | CA345496933 | HNRNPU | c.153G>C c.475G>C (p.Gly159Arg) n.660G>C c.259G>C (p.Gly87Arg) n.706G>C c.175G>C (p.Gly59Arg) n.699G>C n.659G>C | dbSNP gnomAD v4 |
| 1 | g.244863833C>T | CA345496938 | HNRNPU | c.153G>A c.475G>A (p.Gly159Arg) n.660G>A c.259G>A (p.Gly87Arg) n.706G>A c.175G>A (p.Gly59Arg) n.699G>A n.659G>A | |
| 1 | g.244863834G>A | CA424402683 | HNRNPU | c.152C>T c.474C>T (p.His158=) n.659C>T c.258C>T (p.His86=) n.705C>T c.174C>T (p.His58=) n.698C>T n.658C>T | dbSNP |
| 1 | g.244863834G>C | CA345496940 | HNRNPU | c.152C>G c.474C>G (p.His158Gln) n.659C>G c.258C>G (p.His86Gln) n.705C>G c.174C>G (p.His58Gln) n.698C>G n.658C>G | |
| 1 | g.244863834G= | CA1231007469 | HNRNPU | c.152C= c.474C= (p.His158=) n.659C= c.258C= (p.His86=) n.705C= c.174C= (p.His58=) n.698C= n.658C= | |
| 1 | g.244863834G>T | CA345496942 | HNRNPU | c.152C>A c.474C>A (p.His158Gln) n.659C>A c.258C>A (p.His86Gln) n.705C>A c.174C>A (p.His58Gln) n.698C>A n.658C>A | |
| 1 | g.244863835T>A | CA345496946 | HNRNPU | c.151A>T c.473A>T (p.His158Leu) n.658A>T c.257A>T (p.His86Leu) n.704A>T c.173A>T (p.His58Leu) n.697A>T n.657A>T | |
| 1 | g.244863835T>C | CA345496947 | HNRNPU | c.151A>G c.473A>G (p.His158Arg) n.658A>G c.257A>G (p.His86Arg) n.704A>G c.173A>G (p.His58Arg) n.697A>G n.657A>G | dbSNP gnomAD v4 |
| 1 | g.244863835T>G | CA345496945 | HNRNPU | c.151A>C c.473A>C (p.His158Pro) n.658A>C c.257A>C (p.His86Pro) n.704A>C c.173A>C (p.His58Pro) n.697A>C n.657A>C | |
| 1 | g.244863835T= | CA1231007470 | HNRNPU | c.151A= c.473A= (p.His158=) n.658A= c.257A= (p.His86=) n.704A= c.173A= (p.His58=) n.697A= n.657A= | |
| 1 | g.244863836G>A | CA345496948 | HNRNPU | c.150C>T c.472C>T (p.His158Tyr) n.657C>T c.256C>T (p.His86Tyr) n.703C>T c.172C>T (p.His58Tyr) n.696C>T n.656C>T | |
| 1 | g.244863836G>C | CA345496950 | HNRNPU | c.150C>G c.472C>G (p.His158Asp) n.657C>G c.256C>G (p.His86Asp) n.703C>G c.172C>G (p.His58Asp) n.696C>G n.656C>G | |
| 1 | g.244863836G>T | CA345496949 | HNRNPU | c.150C>A c.472C>A (p.His158Asn) n.657C>A c.256C>A (p.His86Asn) n.703C>A c.172C>A (p.His58Asn) n.696C>A n.656C>A | |
| 1 | g.244863837C>A | CA424402685 | HNRNPU | c.149G>T c.471G>T (p.Gly157=) n.656G>T c.255G>T (p.Gly85=) n.702G>T c.171G>T (p.Gly57=) n.695G>T n.655G>T | |
| 1 | g.244863837C>G | CA424402686 | HNRNPU | c.149G>C c.471G>C (p.Gly157=) n.656G>C c.255G>C (p.Gly85=) n.702G>C c.171G>C (p.Gly57=) n.695G>C n.655G>C | |
| 1 | g.244863837C>T | CA424402687 | HNRNPU | c.149G>A c.471G>A (p.Gly157=) n.656G>A c.255G>A (p.Gly85=) n.702G>A c.171G>A (p.Gly57=) n.695G>A n.655G>A | |
| 1 | g.244863838C>A | CA345496951 | HNRNPU | c.148G>T c.470G>T (p.Gly157Val) n.655G>T c.254G>T (p.Gly85Val) n.701G>T c.170G>T (p.Gly57Val) n.694G>T n.654G>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244863838C= | CA1231007471 | HNRNPU | c.148G= c.470G= (p.Gly157=) n.655G= c.254G= (p.Gly85=) n.701G= c.170G= (p.Gly57=) n.694G= n.654G= | |
| 1 | g.244863838C>G | CA345496954 | HNRNPU | c.148G>C c.470G>C (p.Gly157Ala) n.655G>C c.254G>C (p.Gly85Ala) n.701G>C c.170G>C (p.Gly57Ala) n.694G>C n.654G>C | gnomAD v4 |
| 1 | g.244863838C>T | CA345496952 | HNRNPU | c.148G>A c.470G>A (p.Gly157Glu) n.655G>A c.254G>A (p.Gly85Glu) n.701G>A c.170G>A (p.Gly57Glu) n.694G>A n.654G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.244863839C>A | CA345496956 | HNRNPU | c.147G>T c.469G>T (p.Gly157Trp) n.654G>T c.253G>T (p.Gly85Trp) n.700G>T c.169G>T (p.Gly57Trp) n.693G>T n.653G>T | |
| 1 | g.244863839C= | CA1231007472 | HNRNPU | c.147G= c.469G= (p.Gly157=) n.654G= c.253G= (p.Gly85=) n.700G= c.169G= (p.Gly57=) n.693G= n.653G= | |
| 1 | g.244863839C>G | CA345496960 | HNRNPU | c.147G>C c.469G>C (p.Gly157Arg) n.654G>C c.253G>C (p.Gly85Arg) n.700G>C c.169G>C (p.Gly57Arg) n.693G>C n.653G>C | ClinVar dbSNP |
| 1 | g.244863839C>T | CA345496958 | HNRNPU | c.147G>A c.469G>A (p.Gly157Arg) n.654G>A c.253G>A (p.Gly85Arg) n.700G>A c.169G>A (p.Gly57Arg) n.693G>A n.653G>A | ClinVar |
| 1 | g.244863840G>A | CA424402688 | HNRNPU | c.146C>T c.468C>T (p.Asn156=) n.653C>T c.252C>T (p.Asn84=) n.699C>T c.168C>T (p.Asn56=) n.692C>T n.652C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244863840G>C | CA345496961 | HNRNPU | c.146C>G c.468C>G (p.Asn156Lys) n.653C>G c.252C>G (p.Asn84Lys) n.699C>G c.168C>G (p.Asn56Lys) n.692C>G n.652C>G | dbSNP |
| 1 | g.244863840G= | CA1231007473 | HNRNPU | c.146C= c.468C= (p.Asn156=) n.653C= c.252C= (p.Asn84=) n.699C= c.168C= (p.Asn56=) n.692C= n.652C= | |
| 1 | g.244863840G>T | CA345496963 | HNRNPU | c.146C>A c.468C>A (p.Asn156Lys) n.653C>A c.252C>A (p.Asn84Lys) n.699C>A c.168C>A (p.Asn56Lys) n.692C>A n.652C>A | ClinVar dbSNP |
| 1 | g.244863841T>A | CA345496966 | HNRNPU | c.145A>T c.467A>T (p.Asn156Ile) n.652A>T c.251A>T (p.Asn84Ile) n.698A>T c.167A>T (p.Asn56Ile) n.691A>T n.651A>T | |
| 1 | g.244863841T>C | CA345496968 | HNRNPU | c.145A>G c.467A>G (p.Asn156Ser) n.652A>G c.251A>G (p.Asn84Ser) n.698A>G c.167A>G (p.Asn56Ser) n.691A>G n.651A>G | |
| 1 | g.244863841T>G | CA345496969 | HNRNPU | c.145A>C c.467A>C (p.Asn156Thr) n.652A>C c.251A>C (p.Asn84Thr) n.698A>C c.167A>C (p.Asn56Thr) n.691A>C n.651A>C | |
| 1 | g.244863842T>A | CA345496976 | HNRNPU | c.144A>T c.466A>T (p.Asn156Tyr) n.651A>T c.250A>T (p.Asn84Tyr) n.697A>T c.166A>T (p.Asn56Tyr) n.690A>T n.650A>T | |
| 1 | g.244863842T>C | CA345496977 | HNRNPU | c.144A>G c.466A>G (p.Asn156Asp) n.651A>G c.250A>G (p.Asn84Asp) n.697A>G c.166A>G (p.Asn56Asp) n.690A>G n.650A>G | |
| 1 | g.244863842T>G | CA345496979 | HNRNPU | c.144A>C c.466A>C (p.Asn156His) n.651A>C c.250A>C (p.Asn84His) n.697A>C c.166A>C (p.Asn56His) n.690A>C n.650A>C | |
| 1 | g.244863842_244863854del | CA2586968603 | HNRNPU | c.132_144del c.454_466del (p.Ala152ThrfsTer?) n.639_651del c.238_250del (p.Ala80ThrfsTer?) n.685_697del c.154_166del (p.Ala52ThrfsTer?) n.678_690del n.638_650del | |
| 1 | g.244863843C>A | CA345496981 | HNRNPU | c.143G>T c.465G>T (p.Glu155Asp) n.650G>T c.249G>T (p.Glu83Asp) n.696G>T c.165G>T (p.Glu55Asp) n.689G>T n.649G>T | ClinVar dbSNP |
| 1 | g.244863843C= | CA1231007474 | HNRNPU | c.143G= c.465G= (p.Glu155=) n.650G= c.249G= (p.Glu83=) n.696G= c.165G= (p.Glu55=) n.689G= n.649G= | |
| 1 | g.244863843C>G | CA345496982 | HNRNPU | c.143G>C c.465G>C (p.Glu155Asp) n.650G>C c.249G>C (p.Glu83Asp) n.696G>C c.165G>C (p.Glu55Asp) n.689G>C n.649G>C | |
| 1 | g.244863843C>T | CA1486792 | HNRNPU | c.143G>A c.465G>A (p.Glu155=) n.650G>A c.249G>A (p.Glu83=) n.696G>A c.165G>A (p.Glu55=) n.689G>A n.649G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244863844T>A | CA345496989 | HNRNPU | c.142A>T c.464A>T (p.Glu155Val) n.649A>T c.248A>T (p.Glu83Val) n.695A>T c.164A>T (p.Glu55Val) n.688A>T n.648A>T | |
| 1 | g.244863844T>C | CA345496984 | HNRNPU | c.142A>G c.464A>G (p.Glu155Gly) n.649A>G c.248A>G (p.Glu83Gly) n.695A>G c.164A>G (p.Glu55Gly) n.688A>G n.648A>G | |
| 1 | g.244863844T>G | CA345496987 | HNRNPU | c.142A>C c.464A>C (p.Glu155Ala) n.649A>C c.248A>C (p.Glu83Ala) n.695A>C c.164A>C (p.Glu55Ala) n.688A>C n.648A>C | |
| 1 | g.244863845C>A | CA345496990 | HNRNPU | c.141G>T c.463G>T (p.Glu155Ter) n.648G>T c.247G>T (p.Glu83Ter) n.694G>T c.163G>T (p.Glu55Ter) n.687G>T n.647G>T | |
| 1 | g.244863845C= | CA1231007475 | HNRNPU | c.141G= c.463G= (p.Glu155=) n.648G= c.247G= (p.Glu83=) n.694G= c.163G= (p.Glu55=) n.687G= n.647G= | |
| 1 | g.244863845C>G | CA345496992 | HNRNPU | c.141G>C c.463G>C (p.Glu155Gln) n.648G>C c.247G>C (p.Glu83Gln) n.694G>C c.163G>C (p.Glu55Gln) n.687G>C n.647G>C | |
| 1 | g.244863845C>T | CA345496993 | HNRNPU | c.141G>A c.463G>A (p.Glu155Lys) n.648G>A c.247G>A (p.Glu83Lys) n.694G>A c.163G>A (p.Glu55Lys) n.687G>A n.647G>A | dbSNP gnomAD v4 |
| 1 | g.244863846G>A | CA424402690 | HNRNPU | c.140C>T c.462C>T (p.Asp154=) n.647C>T c.246C>T (p.Asp82=) n.693C>T c.162C>T (p.Asp54=) n.686C>T n.646C>T | |
| 1 | g.244863846G>C | CA345496995 | HNRNPU | c.140C>G c.462C>G (p.Asp154Glu) n.647C>G c.246C>G (p.Asp82Glu) n.693C>G c.162C>G (p.Asp54Glu) n.686C>G n.646C>G | |
| 1 | g.244863846G>T | CA345496996 | HNRNPU | c.140C>A c.462C>A (p.Asp154Glu) n.647C>A c.246C>A (p.Asp82Glu) n.693C>A c.162C>A (p.Asp54Glu) n.686C>A n.646C>A | |
| 1 | g.244863847T>A | CA345496998 | HNRNPU | c.139A>T c.461A>T (p.Asp154Val) n.646A>T c.245A>T (p.Asp82Val) n.692A>T c.161A>T (p.Asp54Val) n.685A>T n.645A>T | |
| 1 | g.244863847T>C | CA345497000 | HNRNPU | c.139A>G c.461A>G (p.Asp154Gly) n.646A>G c.245A>G (p.Asp82Gly) n.692A>G c.161A>G (p.Asp54Gly) n.685A>G n.645A>G | gnomAD v4 |
| 1 | g.244863847T>G | CA345497002 | HNRNPU | c.139A>C c.461A>C (p.Asp154Ala) n.646A>C c.245A>C (p.Asp82Ala) n.692A>C c.161A>C (p.Asp54Ala) n.685A>C n.645A>C | |
| 1 | g.244863848C>A | CA345497004 | HNRNPU | c.138G>T c.460G>T (p.Asp154Tyr) n.645G>T c.244G>T (p.Asp82Tyr) n.691G>T c.160G>T (p.Asp54Tyr) n.684G>T n.644G>T | gnomAD v4 |
| 1 | g.244863848C>G | CA345497005 | HNRNPU | c.138G>C c.460G>C (p.Asp154His) n.645G>C c.244G>C (p.Asp82His) n.691G>C c.160G>C (p.Asp54His) n.684G>C n.644G>C | |
| 1 | g.244863848C>T | CA345497008 | HNRNPU | c.138G>A c.460G>A (p.Asp154Asn) n.645G>A c.244G>A (p.Asp82Asn) n.691G>A c.160G>A (p.Asp54Asn) n.684G>A n.644G>A | gnomAD v4 |
| 1 | g.244863849G>A | CA1486793 | HNRNPU | c.137C>T c.459C>T (p.Gly153=) n.644C>T c.243C>T (p.Gly81=) n.690C>T c.159C>T (p.Gly53=) n.683C>T n.643C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.244863849G>C | CA424402691 | HNRNPU | c.137C>G c.459C>G (p.Gly153=) n.644C>G c.243C>G (p.Gly81=) n.690C>G c.159C>G (p.Gly53=) n.683C>G n.643C>G | |
| 1 | g.244863849G= | CA1231007476 | HNRNPU | c.137C= c.459C= (p.Gly153=) n.644C= c.243C= (p.Gly81=) n.690C= c.159C= (p.Gly53=) n.683C= n.643C= | |
| 1 | g.244863849G>T | CA424402692 | HNRNPU | c.137C>A c.459C>A (p.Gly153=) n.644C>A c.243C>A (p.Gly81=) n.690C>A c.159C>A (p.Gly53=) n.683C>A n.643C>A | gnomAD v4 |
| 1 | g.244863850C>A | CA345497013 | HNRNPU | c.136G>T c.458G>T (p.Gly153Val) n.643G>T c.242G>T (p.Gly81Val) n.689G>T c.158G>T (p.Gly53Val) n.682G>T n.642G>T | |
| 1 | g.244863850C= | CA1143649150 | HNRNPU | c.136G= c.458G= (p.Gly153=) n.643G= c.242G= (p.Gly81=) n.689G= c.158G= (p.Gly53=) n.682G= n.642G= | |
| 1 | g.244863850C>G | CA345497011 | HNRNPU | c.136G>C c.458G>C (p.Gly153Ala) n.643G>C c.242G>C (p.Gly81Ala) n.689G>C c.158G>C (p.Gly53Ala) n.682G>C n.642G>C | |
| 1 | g.244863850C>T | CA1486794 | HNRNPU | c.136G>A c.458G>A (p.Gly153Asp) n.643G>A c.242G>A (p.Gly81Asp) n.689G>A c.158G>A (p.Gly53Asp) n.682G>A n.642G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244863851C>A | CA345497015 | HNRNPU | c.135G>T c.457G>T (p.Gly153Cys) n.642G>T c.241G>T (p.Gly81Cys) n.688G>T c.157G>T (p.Gly53Cys) n.681G>T n.641G>T | |
| 1 | g.244863851C= | CA1231007477 | HNRNPU | c.135G= c.457G= (p.Gly153=) n.642G= c.241G= (p.Gly81=) n.688G= c.157G= (p.Gly53=) n.681G= n.641G= | |
| 1 | g.244863851C>G | CA345497021 | HNRNPU | c.135G>C c.457G>C (p.Gly153Arg) n.642G>C c.241G>C (p.Gly81Arg) n.688G>C c.157G>C (p.Gly53Arg) n.681G>C n.641G>C | ClinVar dbSNP |
| 1 | g.244863851C>T | CA345497023 | HNRNPU | c.135G>A c.457G>A (p.Gly153Ser) n.642G>A c.241G>A (p.Gly81Ser) n.688G>A c.157G>A (p.Gly53Ser) n.681G>A n.641G>A | |
| 1 | g.244863852C>A | CA424402693 | HNRNPU | c.134G>T c.456G>T (p.Ala152=) n.641G>T c.240G>T (p.Ala80=) n.687G>T c.156G>T (p.Ala52=) n.680G>T n.640G>T | |
| 1 | g.244863852C= | CA1143949465 | HNRNPU | c.134G= c.456G= (p.Ala152=) n.641G= c.240G= (p.Ala80=) n.687G= c.156G= (p.Ala52=) n.680G= n.640G= | |
| 1 | g.244863852C>G | CA424402694 | HNRNPU | c.134G>C c.456G>C (p.Ala152=) n.641G>C c.240G>C (p.Ala80=) n.687G>C c.156G>C (p.Ala52=) n.680G>C n.640G>C | |
| 1 | g.244863852C>T | CA1486795 | HNRNPU | c.134G>A c.456G>A (p.Ala152=) n.641G>A c.240G>A (p.Ala80=) n.687G>A c.156G>A (p.Ala52=) n.680G>A n.640G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244863853G>A | CA345497029 | HNRNPU | c.133C>T c.455C>T (p.Ala152Val) n.640C>T c.239C>T (p.Ala80Val) n.686C>T c.155C>T (p.Ala52Val) n.679C>T n.639C>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.244863853G>C | CA345497030 | HNRNPU | c.133C>G c.455C>G (p.Ala152Gly) n.640C>G c.239C>G (p.Ala80Gly) n.686C>G c.155C>G (p.Ala52Gly) n.679C>G n.639C>G | |
| 1 | g.244863853G= | CA1231007478 | HNRNPU | c.133C= c.455C= (p.Ala152=) n.640C= c.239C= (p.Ala80=) n.686C= c.155C= (p.Ala52=) n.679C= n.639C= | |
| 1 | g.244863853G>T | CA345497032 | HNRNPU | c.133C>A c.455C>A (p.Ala152Glu) n.640C>A c.239C>A (p.Ala80Glu) n.686C>A c.155C>A (p.Ala52Glu) n.679C>A n.639C>A | gnomAD v4 |
| 1 | g.244863854C>A | CA345497034 | HNRNPU | c.132G>T c.454G>T (p.Ala152Ser) n.639G>T c.238G>T (p.Ala80Ser) n.685G>T c.154G>T (p.Ala52Ser) n.678G>T n.638G>T | |
| 1 | g.244863854C>G | CA345497035 | HNRNPU | c.132G>C c.454G>C (p.Ala152Pro) n.639G>C c.238G>C (p.Ala80Pro) n.685G>C c.154G>C (p.Ala52Pro) n.678G>C n.638G>C | |
| 1 | g.244863854C>T | CA345497037 | HNRNPU | c.132G>A c.454G>A (p.Ala152Thr) n.639G>A c.238G>A (p.Ala80Thr) n.685G>A c.154G>A (p.Ala52Thr) n.678G>A n.638G>A | |
| 1 | g.244863855G>A | CA1486796 | HNRNPU | c.131C>T c.453C>T (p.Gly151=) n.638C>T c.237C>T (p.Gly79=) n.684C>T c.153C>T (p.Gly51=) n.677C>T n.637C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244863855G>C | CA424402695 | HNRNPU | c.131C>G c.453C>G (p.Gly151=) n.638C>G c.237C>G (p.Gly79=) n.684C>G c.153C>G (p.Gly51=) n.677C>G n.637C>G | |
| 1 | g.244863855G= | CA1231007479 | HNRNPU | c.131C= c.453C= (p.Gly151=) n.638C= c.237C= (p.Gly79=) n.684C= c.153C= (p.Gly51=) n.677C= n.637C= | |
| 1 | g.244863855G>T | CA424402696 | HNRNPU | c.131C>A c.453C>A (p.Gly151=) n.638C>A c.237C>A (p.Gly79=) n.684C>A c.153C>A (p.Gly51=) n.677C>A n.637C>A | dbSNP gnomAD v4 |
| 1 | g.244863856C>A | CA345497040 | HNRNPU | c.130G>T c.452G>T (p.Gly151Val) n.637G>T c.236G>T (p.Gly79Val) n.683G>T c.152G>T (p.Gly51Val) n.676G>T n.636G>T | |
| 1 | g.244863856C>G | CA345497042 | HNRNPU | c.130G>C c.452G>C (p.Gly151Ala) n.637G>C c.236G>C (p.Gly79Ala) n.683G>C c.152G>C (p.Gly51Ala) n.676G>C n.636G>C | |
| 1 | g.244863856C>T | CA345497041 | HNRNPU | c.130G>A c.452G>A (p.Gly151Asp) n.637G>A c.236G>A (p.Gly79Asp) n.683G>A c.152G>A (p.Gly51Asp) n.676G>A n.636G>A | |
| 1 | g.244863857C>A | CA1486797 | HNRNPU | c.129G>T c.451G>T (p.Gly151Cys) n.636G>T c.235G>T (p.Gly79Cys) n.682G>T c.151G>T (p.Gly51Cys) n.675G>T n.635G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244863857C= | CA1147529447 | HNRNPU | c.129G= c.451G= (p.Gly151=) n.636G= c.235G= (p.Gly79=) n.682G= c.151G= (p.Gly51=) n.675G= n.635G= | |
| 1 | g.244863857C>G | CA345497045 | HNRNPU | c.129G>C c.451G>C (p.Gly151Arg) n.636G>C c.235G>C (p.Gly79Arg) n.682G>C c.151G>C (p.Gly51Arg) n.675G>C n.635G>C | |
| 1 | g.244863857C>T | CA1486798 | HNRNPU | c.129G>A c.451G>A (p.Gly151Ser) n.636G>A c.235G>A (p.Gly79Ser) n.682G>A c.151G>A (p.Gly51Ser) n.675G>A n.635G>A | ClinVar dbSNP ExAC gnomAD v4 |
| 1 | g.244863858_244863860dup | CA2748454211 | HNRNPU | c.127_129dup c.449_451dup (p.Glu150_Gly151insGlu) n.634_636dup c.233_235dup (p.Glu78_Gly79insGlu) n.680_682dup c.149_151dup (p.Glu50_Gly51insGlu) n.673_675dup n.633_635dup | |
| 1 | g.244863858T>A | CA345497048 | HNRNPU | c.128A>T c.450A>T (p.Glu150Asp) n.635A>T c.234A>T (p.Glu78Asp) n.681A>T c.150A>T (p.Glu50Asp) n.674A>T n.634A>T | |
| 1 | g.244863858T>C | CA424402697 | HNRNPU | c.128A>G c.450A>G (p.Glu150=) n.635A>G c.234A>G (p.Glu78=) n.681A>G c.150A>G (p.Glu50=) n.674A>G n.634A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244863858T>G | CA345497050 | HNRNPU | c.128A>C c.450A>C (p.Glu150Asp) n.635A>C c.234A>C (p.Glu78Asp) n.681A>C c.150A>C (p.Glu50Asp) n.674A>C n.634A>C | ClinVar |
| 1 | g.244863858T= | CA1231007480 | HNRNPU | c.128A= c.450A= (p.Glu150=) n.635A= c.234A= (p.Glu78=) n.681A= c.150A= (p.Glu50=) n.674A= n.634A= | |
| 1 | g.244863859T>A | CA345497053 | HNRNPU | c.127A>T c.449A>T (p.Glu150Val) n.634A>T c.233A>T (p.Glu78Val) n.680A>T c.149A>T (p.Glu50Val) n.673A>T n.633A>T | |
| 1 | g.244863859T>C | CA345497054 | HNRNPU | c.127A>G c.449A>G (p.Glu150Gly) n.634A>G c.233A>G (p.Glu78Gly) n.680A>G c.149A>G (p.Glu50Gly) n.673A>G n.633A>G | |
| 1 | g.244863859T>G | CA345497056 | HNRNPU | c.127A>C c.449A>C (p.Glu150Ala) n.634A>C c.233A>C (p.Glu78Ala) n.680A>C c.149A>C (p.Glu50Ala) n.673A>C n.633A>C | |
| 1 | g.244863860C>A | CA345497059 | HNRNPU | c.126G>T c.448G>T (p.Glu150Ter) n.633G>T c.232G>T (p.Glu78Ter) n.679G>T c.148G>T (p.Glu50Ter) n.672G>T n.632G>T | |
| 1 | g.244863860C= | CA1231007481 | HNRNPU | c.126G= c.448G= (p.Glu150=) n.633G= c.232G= (p.Glu78=) n.679G= c.148G= (p.Glu50=) n.672G= n.632G= | |
| 1 | g.244863860C>G | CA40505131 | HNRNPU | c.126G>C c.448G>C (p.Glu150Gln) n.633G>C c.232G>C (p.Glu78Gln) n.679G>C c.148G>C (p.Glu50Gln) n.672G>C n.632G>C | dbSNP |
| 1 | g.244863860C>T | CA345497061 | HNRNPU | c.126G>A c.448G>A (p.Glu150Lys) n.633G>A c.232G>A (p.Glu78Lys) n.679G>A c.148G>A (p.Glu50Lys) n.672G>A n.632G>A | |
| 1 | g.244863861C>A | CA345497065 | HNRNPU | c.125G>T c.447G>T (p.Glu149Asp) n.632G>T c.231G>T (p.Glu77Asp) n.678G>T c.147G>T (p.Glu49Asp) n.671G>T n.631G>T | |
| 1 | g.244863861C>G | CA345497063 | HNRNPU | c.125G>C c.447G>C (p.Glu149Asp) n.632G>C c.231G>C (p.Glu77Asp) n.678G>C c.147G>C (p.Glu49Asp) n.671G>C n.631G>C | |
| 1 | g.244863861C>T | CA424402698 | HNRNPU | c.125G>A c.447G>A (p.Glu149=) n.632G>A c.231G>A (p.Glu77=) n.678G>A c.147G>A (p.Glu49=) n.671G>A n.631G>A | |
| 1 | g.244863862T>A | CA345497068 | HNRNPU | c.124A>T c.446A>T (p.Glu149Val) n.631A>T c.230A>T (p.Glu77Val) n.677A>T c.146A>T (p.Glu49Val) n.670A>T n.630A>T | |
| 1 | g.244863862T>C | CA40505134 | HNRNPU | c.124A>G c.446A>G (p.Glu149Gly) n.631A>G c.230A>G (p.Glu77Gly) n.677A>G c.146A>G (p.Glu49Gly) n.670A>G n.630A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.244863862T>G | CA345497070 | HNRNPU | c.124A>C c.446A>C (p.Glu149Ala) n.631A>C c.230A>C (p.Glu77Ala) n.677A>C c.146A>C (p.Glu49Ala) n.670A>C n.630A>C | |
| 1 | g.244863862T= | CA1144069203 | HNRNPU | c.124A= c.446A= (p.Glu149=) n.631A= c.230A= (p.Glu77=) n.677A= c.146A= (p.Glu49=) n.670A= n.630A= | |
| 1 | g.244863867_244863884del | CA2580063537 | HNRNPU | c.107_124del c.429_446del (p.Asp143_Glu148del) n.614_631del c.213_230del (p.Asp71_Glu76del) n.660_677del c.129_146del (p.Asp43_Glu48del) n.653_670del n.613_630del | ClinVar |
| 1 | g.244863863C>A | CA345497076 | HNRNPU | c.123G>T c.445G>T (p.Glu149Ter) n.630G>T c.229G>T (p.Glu77Ter) n.676G>T c.145G>T (p.Glu49Ter) n.669G>T n.629G>T | |
| 1 | g.244863863C>G | CA345497079 | HNRNPU | c.123G>C c.445G>C (p.Glu149Gln) n.630G>C c.229G>C (p.Glu77Gln) n.676G>C c.145G>C (p.Glu49Gln) n.669G>C n.629G>C | |
| 1 | g.244863863C>T | CA345497080 | HNRNPU | c.123G>A c.445G>A (p.Glu149Lys) n.630G>A c.229G>A (p.Glu77Lys) n.676G>A c.145G>A (p.Glu49Lys) n.669G>A n.629G>A | |
| 1 | g.244863864T>A | CA345497083 | HNRNPU | c.122A>T c.444A>T (p.Glu148Asp) n.629A>T c.228A>T (p.Glu76Asp) n.675A>T c.144A>T (p.Glu48Asp) n.668A>T n.628A>T | |
| 1 | g.244863864T>C | CA424402699 | HNRNPU | c.122A>G c.444A>G (p.Glu148=) n.629A>G c.228A>G (p.Glu76=) n.675A>G c.144A>G (p.Glu48=) n.668A>G n.628A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.244863864T>G | CA345497085 | HNRNPU | c.122A>C c.444A>C (p.Glu148Asp) n.629A>C c.228A>C (p.Glu76Asp) n.675A>C c.144A>C (p.Glu48Asp) n.668A>C n.628A>C | |
| 1 | g.244863865T>A | CA345497088 | HNRNPU | c.121A>T c.443A>T (p.Glu148Val) n.628A>T c.227A>T (p.Glu76Val) n.674A>T c.143A>T (p.Glu48Val) n.667A>T n.627A>T | |
| 1 | g.244863865T>C | CA345497089 | HNRNPU | c.121A>G c.443A>G (p.Glu148Gly) n.628A>G c.227A>G (p.Glu76Gly) n.674A>G c.143A>G (p.Glu48Gly) n.667A>G n.627A>G | dbSNP |
| 1 | g.244863865T>G | CA345497091 | HNRNPU | c.121A>C c.443A>C (p.Glu148Ala) n.628A>C c.227A>C (p.Glu76Ala) n.674A>C c.143A>C (p.Glu48Ala) n.667A>C n.627A>C | |
| 1 | g.244863865T= | CA1231007482 | HNRNPU | c.121A= c.443A= (p.Glu148=) n.628A= c.227A= (p.Glu76=) n.674A= c.143A= (p.Glu48=) n.667A= n.627A= | |
| 1 | g.244863866C>A | CA345497093 | HNRNPU | c.120G>T c.442G>T (p.Glu148Ter) n.627G>T c.226G>T (p.Glu76Ter) n.673G>T c.142G>T (p.Glu48Ter) n.666G>T n.626G>T | |
| 1 | g.244863866C>G | CA345497094 | HNRNPU | c.120G>C c.442G>C (p.Glu148Gln) n.627G>C c.226G>C (p.Glu76Gln) n.673G>C c.142G>C (p.Glu48Gln) n.666G>C n.626G>C | |
| 1 | g.244863866C>T | CA345497096 | HNRNPU | c.120G>A c.442G>A (p.Glu148Lys) n.627G>A c.226G>A (p.Glu76Lys) n.673G>A c.142G>A (p.Glu48Lys) n.666G>A n.626G>A | gnomAD v4 |
| 1 | g.244863867G>A | CA424402702 | HNRNPU | c.119C>T c.441C>T (p.Asp147=) n.626C>T c.225C>T (p.Asp75=) n.672C>T c.141C>T (p.Asp47=) n.665C>T n.625C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.244863867G>C | CA1486799 | HNRNPU | c.119C>G c.441C>G (p.Asp147Glu) n.626C>G c.225C>G (p.Asp75Glu) n.672C>G c.141C>G (p.Asp47Glu) n.665C>G n.625C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244863867G= | CA1145151615 | HNRNPU | c.119C= c.441C= (p.Asp147=) n.626C= c.225C= (p.Asp75=) n.672C= c.141C= (p.Asp47=) n.665C= n.625C= | |
| 1 | g.244863867G>T | CA345497097 | HNRNPU | c.119C>A c.441C>A (p.Asp147Glu) n.626C>A c.225C>A (p.Asp75Glu) n.672C>A c.141C>A (p.Asp47Glu) n.665C>A n.625C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244863868T>A | CA345497098 | HNRNPU | c.118A>T c.440A>T (p.Asp147Val) n.625A>T c.224A>T (p.Asp75Val) n.671A>T c.140A>T (p.Asp47Val) n.664A>T n.624A>T | |
| 1 | g.244863868T>C | CA345497099 | HNRNPU | c.118A>G c.440A>G (p.Asp147Gly) n.625A>G c.224A>G (p.Asp75Gly) n.671A>G c.140A>G (p.Asp47Gly) n.664A>G n.624A>G | gnomAD v4 |
| 1 | g.244863868T>G | CA345497101 | HNRNPU | c.118A>C c.440A>C (p.Asp147Ala) n.625A>C c.224A>C (p.Asp75Ala) n.671A>C c.140A>C (p.Asp47Ala) n.664A>C n.624A>C | |
| 1 | g.244863868_244863870del | CA2748454213 | HNRNPU | c.116_118del c.438_440del (p.Asp147del) n.623_625del c.222_224del (p.Asp75del) n.669_671del c.138_140del (p.Asp47del) n.662_664del n.622_624del | |
| 1 | g.244863869C>A | CA345497103 | HNRNPU | c.117G>T c.439G>T (p.Asp147Tyr) n.624G>T c.223G>T (p.Asp75Tyr) n.670G>T c.139G>T (p.Asp47Tyr) n.663G>T n.623G>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.244863869C= | CA1231007483 | HNRNPU | c.117G= c.439G= (p.Asp147=) n.624G= c.223G= (p.Asp75=) n.670G= c.139G= (p.Asp47=) n.663G= n.623G= | |
| 1 | g.244863869C>G | CA345497105 | HNRNPU | c.117G>C c.439G>C (p.Asp147His) n.624G>C c.223G>C (p.Asp75His) n.670G>C c.139G>C (p.Asp47His) n.663G>C n.623G>C | |
| 1 | g.244863869C>T | CA1486800 | HNRNPU | c.117G>A c.439G>A (p.Asp147Asn) n.624G>A c.223G>A (p.Asp75Asn) n.670G>A c.139G>A (p.Asp47Asn) n.663G>A n.623G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244863870C>A | CA424402706 | HNRNPU | c.116G>T c.438G>T (p.Gly146=) n.623G>T c.222G>T (p.Gly74=) n.669G>T c.138G>T (p.Gly46=) n.662G>T n.622G>T | |
| 1 | g.244863870C= | CA1231007484 | HNRNPU | c.116G= c.438G= (p.Gly146=) n.623G= c.222G= (p.Gly74=) n.669G= c.138G= (p.Gly46=) n.662G= n.622G= | |
| 1 | g.244863870C>G | CA424402707 | HNRNPU | c.116G>C c.438G>C (p.Gly146=) n.623G>C c.222G>C (p.Gly74=) n.669G>C c.138G>C (p.Gly46=) n.662G>C n.622G>C | gnomAD v4 |
| 1 | g.244863870C>T | CA424402708 | HNRNPU | c.116G>A c.438G>A (p.Gly146=) n.623G>A c.222G>A (p.Gly74=) n.669G>A c.138G>A (p.Gly46=) n.662G>A n.622G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244863871C>A | CA345497107 | HNRNPU | c.115G>T c.437G>T (p.Gly146Val) n.622G>T c.221G>T (p.Gly74Val) n.668G>T c.137G>T (p.Gly46Val) n.661G>T n.621G>T | |
| 1 | g.244863871C= | CA1231007485 | HNRNPU | c.115G= c.437G= (p.Gly146=) n.622G= c.221G= (p.Gly74=) n.668G= c.137G= (p.Gly46=) n.661G= n.621G= | |
| 1 | g.244863871C>G | CA345497109 | HNRNPU | c.115G>C c.437G>C (p.Gly146Ala) n.622G>C c.221G>C (p.Gly74Ala) n.668G>C c.137G>C (p.Gly46Ala) n.661G>C n.621G>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244863871C>T | CA345497111 | HNRNPU | c.115G>A c.437G>A (p.Gly146Glu) n.622G>A c.221G>A (p.Gly74Glu) n.668G>A c.137G>A (p.Gly46Glu) n.661G>A n.621G>A | ClinVar |
| 1 | g.244863872C>A | CA345497113 | HNRNPU | c.114G>T c.436G>T (p.Gly146Trp) n.621G>T c.220G>T (p.Gly74Trp) n.667G>T c.136G>T (p.Gly46Trp) n.660G>T n.620G>T | |
| 1 | g.244863872C= | CA1231007486 | HNRNPU | c.114G= c.436G= (p.Gly146=) n.621G= c.220G= (p.Gly74=) n.667G= c.136G= (p.Gly46=) n.660G= n.620G= | |
| 1 | g.244863872C>G | CA40505154 | HNRNPU | c.114G>C c.436G>C (p.Gly146Arg) n.621G>C c.220G>C (p.Gly74Arg) n.667G>C c.136G>C (p.Gly46Arg) n.660G>C n.620G>C | ClinVar dbSNP |
| 1 | g.244863872C>T | CA345497115 | HNRNPU | c.114G>A c.436G>A (p.Gly146Arg) n.621G>A c.220G>A (p.Gly74Arg) n.667G>A c.136G>A (p.Gly46Arg) n.660G>A n.620G>A | |
| 1 | g.244863873G>A | CA424403078 | HNRNPU | c.113C>T c.435C>T (p.Leu145=) n.620C>T c.219C>T (p.Leu73=) n.666C>T c.135C>T (p.Leu45=) n.659C>T n.619C>T | ClinVar dbSNP |
| 1 | g.244863873G>C | CA424403081 | HNRNPU | c.113C>G c.435C>G (p.Leu145=) n.620C>G c.219C>G (p.Leu73=) n.666C>G c.135C>G (p.Leu45=) n.659C>G n.619C>G | dbSNP |
| 1 | g.244863873G= | CA1231007487 | HNRNPU | c.113C= c.435C= (p.Leu145=) n.620C= c.219C= (p.Leu73=) n.666C= c.135C= (p.Leu45=) n.659C= n.619C= | |
| 1 | g.244863873G>T | CA424403084 | HNRNPU | c.113C>A c.435C>A (p.Leu145=) n.620C>A c.219C>A (p.Leu73=) n.666C>A c.135C>A (p.Leu45=) n.659C>A n.619C>A | ClinVar |
| 1 | g.244863874A>C | CA345497119 | HNRNPU | c.112T>G c.434T>G (p.Leu145Arg) n.619T>G c.218T>G (p.Leu73Arg) n.665T>G c.134T>G (p.Leu45Arg) n.658T>G n.618T>G | |
| 1 | g.244863874A>G | CA345497121 | HNRNPU | c.112T>C c.434T>C (p.Leu145Pro) n.619T>C c.218T>C (p.Leu73Pro) n.665T>C c.134T>C (p.Leu45Pro) n.658T>C n.618T>C | |
| 1 | g.244863874A>T | CA345497118 | HNRNPU | c.112T>A c.434T>A (p.Leu145His) n.619T>A c.218T>A (p.Leu73His) n.665T>A c.134T>A (p.Leu45His) n.658T>A n.618T>A | |
| 1 | g.244863875G>A | CA1486801 | HNRNPU | c.111C>T c.433C>T (p.Leu145Phe) n.618C>T c.217C>T (p.Leu73Phe) n.664C>T c.133C>T (p.Leu45Phe) n.657C>T n.617C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244863875G>C | CA345497122 | HNRNPU | c.111C>G c.433C>G (p.Leu145Val) n.618C>G c.217C>G (p.Leu73Val) n.664C>G c.133C>G (p.Leu45Val) n.657C>G n.617C>G | gnomAD v4 |
| 1 | g.244863875G= | CA1149036569 | HNRNPU | c.111C= c.433C= (p.Leu145=) n.618C= c.217C= (p.Leu73=) n.664C= c.133C= (p.Leu45=) n.657C= n.617C= | |
| 1 | g.244863875G>T | CA345497124 | HNRNPU | c.111C>A c.433C>A (p.Leu145Ile) n.618C>A c.217C>A (p.Leu73Ile) n.664C>A c.133C>A (p.Leu45Ile) n.657C>A n.617C>A | |
| 1 | g.244863876C>A | CA345497126 | HNRNPU | c.110G>T c.432G>T (p.Glu144Asp) n.617G>T c.216G>T (p.Glu72Asp) n.663G>T c.132G>T (p.Glu44Asp) n.656G>T n.616G>T | |
| 1 | g.244863876C>G | CA345497127 | HNRNPU | c.110G>C c.432G>C (p.Glu144Asp) n.617G>C c.216G>C (p.Glu72Asp) n.663G>C c.132G>C (p.Glu44Asp) n.656G>C n.616G>C | |
| 1 | g.244863876C>T | CA424403100 | HNRNPU | c.110G>A c.432G>A (p.Glu144=) n.617G>A c.216G>A (p.Glu72=) n.663G>A c.132G>A (p.Glu44=) n.656G>A n.616G>A | ClinVar |
| 1 | g.244863876_244863879delinsCTCA | CA1231007488 | HNRNPU | c.107_110delinsTGAG c.429_432delinsTGAG (p.Asp143=) n.614_617delinsTGAG c.213_216delinsTGAG (p.Asp71=) n.660_663delinsTGAG c.129_132delinsTGAG (p.Asp43=) n.653_656delinsTGAG n.613_616delinsTGAG | |
| 1 | g.244863877T>A | CA345497130 | HNRNPU | c.109A>T c.431A>T (p.Glu144Val) n.616A>T c.215A>T (p.Glu72Val) n.662A>T c.131A>T (p.Glu44Val) n.655A>T n.615A>T | |
| 1 | g.244863877T>C | CA345497129 | HNRNPU | c.109A>G c.431A>G (p.Glu144Gly) n.616A>G c.215A>G (p.Glu72Gly) n.662A>G c.131A>G (p.Glu44Gly) n.655A>G n.615A>G | |
| 1 | g.244863877T>G | CA345497128 | HNRNPU | c.109A>C c.431A>C (p.Glu144Ala) n.616A>C c.215A>C (p.Glu72Ala) n.662A>C c.131A>C (p.Glu44Ala) n.655A>C n.615A>C | |
| 1 | g.244863879_244863881del | CA40505161 | HNRNPU | c.107_109del c.429_431del (p.Asp143del) n.614_616del c.213_215del (p.Asp71del) n.660_662del c.129_131del (p.Asp43del) n.653_655del n.613_615del | dbSNP |
| 1 | g.244863878C>A | CA345497131 | HNRNPU | c.108G>T c.430G>T (p.Glu144Ter) n.615G>T c.214G>T (p.Glu72Ter) n.661G>T c.130G>T (p.Glu44Ter) n.654G>T n.614G>T | |
| 1 | g.244863878C>G | CA345497132 | HNRNPU | c.108G>C c.430G>C (p.Glu144Gln) n.615G>C c.214G>C (p.Glu72Gln) n.661G>C c.130G>C (p.Glu44Gln) n.654G>C n.614G>C | |
| 1 | g.244863878C>T | CA345497133 | HNRNPU | c.108G>A c.430G>A (p.Glu144Lys) n.615G>A c.214G>A (p.Glu72Lys) n.661G>A c.130G>A (p.Glu44Lys) n.654G>A n.614G>A | COSMIC COSMIC |
| 1 | g.244863879A= | CA1146418130 | HNRNPU | c.107T= c.429T= (p.Asp143=) n.614T= c.213T= (p.Asp71=) n.660T= c.129T= (p.Asp43=) n.653T= n.613T= | |
| 1 | g.244863879A>C | CA345497134 | HNRNPU | c.107T>G c.429T>G (p.Asp143Glu) n.614T>G c.213T>G (p.Asp71Glu) n.660T>G c.129T>G (p.Asp43Glu) n.653T>G n.613T>G | |
| 1 | g.244863879A>G | CA1486802 | HNRNPU | c.107T>C c.429T>C (p.Asp143=) n.614T>C c.213T>C (p.Asp71=) n.660T>C c.129T>C (p.Asp43=) n.653T>C n.613T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244863879A>T | CA345497135 | HNRNPU | c.107T>A c.429T>A (p.Asp143Glu) n.614T>A c.213T>A (p.Asp71Glu) n.660T>A c.129T>A (p.Asp43Glu) n.653T>A n.613T>A | |
| 1 | g.244863880T>A | CA345497136 | HNRNPU | c.106A>T c.428A>T (p.Asp143Val) n.613A>T c.212A>T (p.Asp71Val) n.659A>T c.128A>T (p.Asp43Val) n.652A>T n.612A>T | |
| 1 | g.244863880T>C | CA345497138 | HNRNPU | c.106A>G c.428A>G (p.Asp143Gly) n.613A>G c.212A>G (p.Asp71Gly) n.659A>G c.128A>G (p.Asp43Gly) n.652A>G n.612A>G | gnomAD v4 |
| 1 | g.244863880T>G | CA345497137 | HNRNPU | c.106A>C c.428A>C (p.Asp143Ala) n.613A>C c.212A>C (p.Asp71Ala) n.659A>C c.128A>C (p.Asp43Ala) n.652A>C n.612A>C | |
| 1 | g.244863881C>A | CA345497139 | HNRNPU | c.105G>T c.427G>T (p.Asp143Tyr) n.612G>T c.211G>T (p.Asp71Tyr) n.658G>T c.127G>T (p.Asp43Tyr) n.651G>T n.611G>T | |
| 1 | g.244863881C>G | CA345497140 | HNRNPU | c.105G>C c.427G>C (p.Asp143His) n.612G>C c.211G>C (p.Asp71His) n.658G>C c.127G>C (p.Asp43His) n.651G>C n.611G>C | |
| 1 | g.244863881C>T | CA345497141 | HNRNPU | c.105G>A c.427G>A (p.Asp143Asn) n.612G>A c.211G>A (p.Asp71Asn) n.658G>A c.127G>A (p.Asp43Asn) n.651G>A n.611G>A | |
| 1 | g.244863882T>A | CA345497142 | HNRNPU | c.104A>T c.426A>T (p.Glu142Asp) n.611A>T c.210A>T (p.Glu70Asp) n.657A>T c.126A>T (p.Glu42Asp) n.650A>T n.610A>T | |
| 1 | g.244863882T>C | CA424403141 | HNRNPU | c.104A>G c.426A>G (p.Glu142=) n.611A>G c.210A>G (p.Glu70=) n.657A>G c.126A>G (p.Glu42=) n.650A>G n.610A>G | |
| 1 | g.244863882T>G | CA345497143 | HNRNPU | c.104A>C c.426A>C (p.Glu142Asp) n.611A>C c.210A>C (p.Glu70Asp) n.657A>C c.126A>C (p.Glu42Asp) n.650A>C n.610A>C | dbSNP gnomAD v4 |
| 1 | g.244863882T= | CA1231007489 | HNRNPU | c.104A= c.426A= (p.Glu142=) n.611A= c.210A= (p.Glu70=) n.657A= c.126A= (p.Glu42=) n.650A= n.610A= | |
| 1 | g.244863883T>A | CA345497144 | HNRNPU | c.103A>T c.425A>T (p.Glu142Val) n.610A>T c.209A>T (p.Glu70Val) n.656A>T c.125A>T (p.Glu42Val) n.649A>T n.609A>T | |
| 1 | g.244863883T>C | CA345497145 | HNRNPU | c.103A>G c.425A>G (p.Glu142Gly) n.610A>G c.209A>G (p.Glu70Gly) n.656A>G c.125A>G (p.Glu42Gly) n.649A>G n.609A>G | |
| 1 | g.244863883T>G | CA345497146 | HNRNPU | c.103A>C c.425A>C (p.Glu142Ala) n.610A>C c.209A>C (p.Glu70Ala) n.656A>C c.125A>C (p.Glu42Ala) n.649A>C n.609A>C | |
| 1 | g.244863884C>A | CA345497147 | HNRNPU | c.102G>T c.424G>T (p.Glu142Ter) n.609G>T c.208G>T (p.Glu70Ter) n.655G>T c.124G>T (p.Glu42Ter) n.648G>T n.608G>T | dbSNP |
| 1 | g.244863884C= | CA1231007490 | HNRNPU | c.102G= c.424G= (p.Glu142=) n.609G= c.208G= (p.Glu70=) n.655G= c.124G= (p.Glu42=) n.648G= n.608G= | |
| 1 | g.244863884C>G | CA345497148 | HNRNPU | c.102G>C c.424G>C (p.Glu142Gln) n.609G>C c.208G>C (p.Glu70Gln) n.655G>C c.124G>C (p.Glu42Gln) n.648G>C n.608G>C | |
| 1 | g.244863884C>T | CA345497149 | HNRNPU | c.102G>A c.424G>A (p.Glu142Lys) n.609G>A c.208G>A (p.Glu70Lys) n.655G>A c.124G>A (p.Glu42Lys) n.648G>A n.608G>A | |
| 1 | g.244863885C>A | CA1486803 | HNRNPU | c.101G>T c.423G>T (p.Gly141=) n.608G>T c.207G>T (p.Gly69=) n.654G>T c.123G>T (p.Gly41=) n.647G>T n.607G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244863885C= | CA1231007491 | HNRNPU | c.101G= c.423G= (p.Gly141=) n.608G= c.207G= (p.Gly69=) n.654G= c.123G= (p.Gly41=) n.647G= n.607G= | |
| 1 | g.244863885C>G | CA424403154 | HNRNPU | c.101G>C c.423G>C (p.Gly141=) n.608G>C c.207G>C (p.Gly69=) n.654G>C c.123G>C (p.Gly41=) n.647G>C n.607G>C | dbSNP |
| 1 | g.244863885C>T | CA424403157 | HNRNPU | c.101G>A c.423G>A (p.Gly141=) n.608G>A c.207G>A (p.Gly69=) n.654G>A c.123G>A (p.Gly41=) n.647G>A n.607G>A | dbSNP gnomAD v4 |
| 1 | g.244863886C>A | CA345497152 | HNRNPU | c.100G>T c.422G>T (p.Gly141Val) n.607G>T c.206G>T (p.Gly69Val) n.653G>T c.122G>T (p.Gly41Val) n.646G>T n.606G>T | |
| 1 | g.244863886C>G | CA345497151 | HNRNPU | c.100G>C c.422G>C (p.Gly141Ala) n.607G>C c.206G>C (p.Gly69Ala) n.653G>C c.122G>C (p.Gly41Ala) n.646G>C n.606G>C | |
| 1 | g.244863886C>T | CA345497150 | HNRNPU | c.100G>A c.422G>A (p.Gly141Glu) n.607G>A c.206G>A (p.Gly69Glu) n.653G>A c.122G>A (p.Gly41Glu) n.646G>A n.606G>A | gnomAD v4 |
| 1 | g.244863886_244863887delinsTT | CA645532141 | HNRNPU | c.99_100delinsAA c.421_422delinsAA (p.Gly141Lys) n.606_607delinsAA c.205_206delinsAA (p.Gly69Lys) n.652_653delinsAA c.121_122delinsAA (p.Gly41Lys) n.645_646delinsAA n.605_606delinsAA | COSMIC COSMIC |