| 5 | g.140114639_140114668dup | CA1139659099 | PURA | c.458_487dup (p.Asn162_Gln163insArgLysTyrTyrMetAspLeuLysGluAsn)
| ClinVar dbSNP |
| 5 | g.140114633_140114654del | CA2825001391 | PURA | c.452_473del (p.Glu151ValfsTer?)
| ClinVar |
| 5 | g.140114650A>C | CA361490838 | PURA | c.469A>C (p.Met157Leu)
| |
| 5 | g.140114650A>G | CA361490840 | PURA | c.469A>G (p.Met157Val)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.140114650A>T | CA361490839 | PURA | c.469A>T (p.Met157Leu)
| |
| 5 | g.140114651T>A | CA249900 | PURA | c.470T>A (p.Met157Lys)
| ClinVar dbSNP |
| 5 | g.140114651T>C | CA361490841 | PURA | c.470T>C (p.Met157Thr)
| |
| 5 | g.140114651T>G | CA361490842 | PURA | c.470T>G (p.Met157Arg)
| |
| 5 | g.140114651T= | CA1586594690 | PURA | c.470T= (p.Met157=)
| |
| 5 | g.140114652G>A | CA361490843 | PURA | c.471G>A (p.Met157Ile)
| |
| 5 | g.140114652G>C | CA361490844 | PURA | c.471G>C (p.Met157Ile)
| |
| 5 | g.140114652G>T | CA361490845 | PURA | c.471G>T (p.Met157Ile)
| |
| 5 | g.140114653G>A | CA361490846 | PURA | c.472G>A (p.Asp158Asn)
| |
| 5 | g.140114653G>C | CA361490847 | PURA | c.472G>C (p.Asp158His)
| |
| 5 | g.140114653G= | CA1586594706 | PURA | c.472G= (p.Asp158=)
| |
| 5 | g.140114653G>T | CA204632 | PURA | c.472G>T (p.Asp158Tyr)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.140114654A>C | CA361490848 | PURA | c.473A>C (p.Asp158Ala)
| |
| 5 | g.140114654A>G | CA361490849 | PURA | c.473A>G (p.Asp158Gly)
| |
| 5 | g.140114654A>T | CA361490850 | PURA | c.473A>T (p.Asp158Val)
| |
| 5 | g.140114655T>A | CA361490852 | PURA | c.474T>A (p.Asp158Glu)
| |
| 5 | g.140114655T>C | CA446830902 | PURA | c.474T>C (p.Asp158=)
| |
| 5 | g.140114655T>G | CA361490851 | PURA | c.474T>G (p.Asp158Glu)
| |
| 5 | g.140114656C>A | CA361490853 | PURA | c.475C>A (p.Leu159Ile)
| gnomAD v4 |
| 5 | g.140114656C= | CA1586594720 | PURA | c.475C= (p.Leu159=)
| |
| 5 | g.140114656C>G | CA361490854 | PURA | c.475C>G (p.Leu159Val)
| ClinVar dbSNP |
| 5 | g.140114656C>T | CA361490855 | PURA | c.475C>T (p.Leu159Phe)
| gnomAD v4 COSMIC |
| 5 | g.140114657T>A | CA361490856 | PURA | c.476T>A (p.Leu159His)
| |
| 5 | g.140114657T>C | CA361490857 | PURA | c.476T>C (p.Leu159Pro)
| |
| 5 | g.140114657T>G | CA361490858 | PURA | c.476T>G (p.Leu159Arg)
| |
| 5 | g.140114658C>A | CA446830907 | PURA | c.477C>A (p.Leu159=)
| gnomAD v4 |
| 5 | g.140114658C= | CA1586594728 | PURA | c.477C= (p.Leu159=)
| |
| 5 | g.140114658C>G | CA446830908 | PURA | c.477C>G (p.Leu159=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114658C>T | CA446830910 | PURA | c.477C>T (p.Leu159=)
| |
| 5 | g.140114658_140114661delinsCAAG | CA1586594731 | PURA | c.477_480delinsCAAG (p.Leu159=)
| |
| 5 | g.140114659A>C | CA361490859 | PURA | c.478A>C (p.Lys160Gln)
| ClinVar gnomAD v3 gnomAD v4 |
| 5 | g.140114659A>G | CA361490860 | PURA | c.478A>G (p.Lys160Glu)
| ClinVar dbSNP |
| 5 | g.140114659A>T | CA361490861 | PURA | c.478A>T (p.Lys160Ter)
| ClinVar |
| 5 | g.140114659_140114661del | CA1139659101 | PURA | c.478_480del (p.Lys160del)
| ClinVar dbSNP |
| 5 | g.140114660A>C | CA361490862 | PURA | c.479A>C (p.Lys160Thr)
| |
| 5 | g.140114660A>G | CA361490863 | PURA | c.479A>G (p.Lys160Arg)
| |
| 5 | g.140114660A>T | CA361490864 | PURA | c.479A>T (p.Lys160Met)
| |
| 5 | g.140114661G>A | CA3437469 | PURA | c.480G>A (p.Lys160=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114661G>C | CA361490866 | PURA | c.480G>C (p.Lys160Asn)
| |
| 5 | g.140114661G= | CA1586594744 | PURA | c.480G= (p.Lys160=)
| |
| 5 | g.140114661G>T | CA361490865 | PURA | c.480G>T (p.Lys160Asn)
| |
| 5 | g.140114662G>A | CA361490867 | PURA | c.481G>A (p.Glu161Lys)
| |
| 5 | g.140114662G>C | CA361490869 | PURA | c.481G>C (p.Glu161Gln)
| |
| 5 | g.140114662G>T | CA361490868 | PURA | c.481G>T (p.Glu161Ter)
| |
| 5 | g.140114663A>C | CA361490870 | PURA | c.482A>C (p.Glu161Ala)
| |
| 5 | g.140114663A>G | CA361490872 | PURA | c.482A>G (p.Glu161Gly)
| |
| 5 | g.140114663A>T | CA361490871 | PURA | c.482A>T (p.Glu161Val)
| |
| 5 | g.140114664G>A | CA446830915 | PURA | c.483G>A (p.Glu161=)
| dbSNP gnomAD v4 |
| 5 | g.140114664G>C | CA361490873 | PURA | c.483G>C (p.Glu161Asp)
| |
| 5 | g.140114664G= | CA1586594748 | PURA | c.483G= (p.Glu161=)
| |
| 5 | g.140114664G>T | CA361490874 | PURA | c.483G>T (p.Glu161Asp)
| |
| 5 | g.140114665A= | CA1586594751 | PURA | c.484A= (p.Asn162=)
| |
| 5 | g.140114665A>C | CA361490875 | PURA | c.484A>C (p.Asn162His)
| |
| 5 | g.140114665A>G | CA361490876 | PURA | c.484A>G (p.Asn162Asp)
| ClinVar dbSNP |
| 5 | g.140114665A>T | CA361490877 | PURA | c.484A>T (p.Asn162Tyr)
| |
| 5 | g.140114666A>C | CA361490878 | PURA | c.485A>C (p.Asn162Thr)
| |
| 5 | g.140114666A>G | CA361490879 | PURA | c.485A>G (p.Asn162Ser)
| |
| 5 | g.140114666A>T | CA361490880 | PURA | c.485A>T (p.Asn162Ile)
| |
| 5 | g.140114667C>A | CA361490881 | PURA | c.486C>A (p.Asn162Lys)
| gnomAD v4 |
| 5 | g.140114667C= | CA1586594764 | PURA | c.486C= (p.Asn162=)
| |
| 5 | g.140114667C>G | CA361490882 | PURA | c.486C>G (p.Asn162Lys)
| ClinVar dbSNP |
| 5 | g.140114667C>T | CA446830917 | PURA | c.486C>T (p.Asn162=)
| gnomAD v4 |
| 5 | g.140114668C>A | CA361490885 | PURA | c.487C>A (p.Gln163Lys)
| |
| 5 | g.140114668C= | CA1586594771 | PURA | c.487C= (p.Gln163=)
| |
| 5 | g.140114668C>G | CA361490884 | PURA | c.487C>G (p.Gln163Glu)
| |
| 5 | g.140114668C>T | CA361490883 | PURA | c.487C>T (p.Gln163Ter)
| ClinVar dbSNP |
| 5 | g.140114669A>C | CA361490886 | PURA | c.488A>C (p.Gln163Pro)
| |
| 5 | g.140114669A>G | CA361490887 | PURA | c.488A>G (p.Gln163Arg)
| |
| 5 | g.140114669A>T | CA361490888 | PURA | c.488A>T (p.Gln163Leu)
| |
| 5 | g.140114670G>A | CA446830921 | PURA | c.489G>A (p.Gln163=)
| |
| 5 | g.140114670G>C | CA361490889 | PURA | c.489G>C (p.Gln163His)
| |
| 5 | g.140114670G>T | CA361490890 | PURA | c.489G>T (p.Gln163His)
| |
| 5 | g.140114674_140114688dup | CA2695205330 | PURA | c.493_507dup (p.Arg169_Ile170insGlyArgPheLeuArg)
| |
| 5 | g.140114671C>A | CA361490891 | PURA | c.490C>A (p.Arg164Ser)
| |
| 5 | g.140114671C>G | CA361490892 | PURA | c.490C>G (p.Arg164Gly)
| |
| 5 | g.140114671C>T | CA361490893 | PURA | c.490C>T (p.Arg164Cys)
| gnomAD v4 COSMIC |
| 5 | g.140114672G>A | CA361490894 | PURA | c.491G>A (p.Arg164His)
| gnomAD v4 |
| 5 | g.140114672G>C | CA361490895 | PURA | c.491G>C (p.Arg164Pro)
| |
| 5 | g.140114672G= | CA1586594779 | PURA | c.491G= (p.Arg164=)
| |
| 5 | g.140114672G>T | CA361490896 | PURA | c.491G>T (p.Arg164Leu)
| |
| 5 | g.140114673C>A | CA128789406 | PURA | c.492C>A (p.Arg164=)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114673C= | CA1586594797 | PURA | c.492C= (p.Arg164=)
| |
| 5 | g.140114673C>G | CA446830925 | PURA | c.492C>G (p.Arg164=)
| |
| 5 | g.140114673C>T | CA3437470 | PURA | c.492C>T (p.Arg164=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.140114675_140114678dup | CA891843400 | PURA | c.494_497dup (p.Phe167ProfsTer?)
| ClinVar dbSNP |
| 5 | g.140114674G>A | CA361490897 | PURA | c.493G>A (p.Gly165Ser)
| ClinVar dbSNP |
| 5 | g.140114674G>C | CA361490898 | PURA | c.493G>C (p.Gly165Arg)
| ClinVar dbSNP |
| 5 | g.140114674G= | CA1586594817 | PURA | c.493G= (p.Gly165=)
| |
| 5 | g.140114674G>T | CA361490899 | PURA | c.493G>T (p.Gly165Cys)
| ClinVar |
| 5 | g.140114675G>A | CA361490900 | PURA | c.494G>A (p.Gly165Asp)
| ClinVar dbSNP |
| 5 | g.140114675G>C | CA361490901 | PURA | c.494G>C (p.Gly165Ala)
| |
| 5 | g.140114675G>T | CA361490902 | PURA | c.494G>T (p.Gly165Val)
| |
| 5 | g.140114676C>A | CA446830926 | PURA | c.495C>A (p.Gly165=)
| |
| 5 | g.140114676C= | CA1586594828 | PURA | c.495C= (p.Gly165=)
| |
| 5 | g.140114676C>G | CA446830927 | PURA | c.495C>G (p.Gly165=)
| ClinVar dbSNP |
| 5 | g.140114676C>T | CA446830928 | PURA | c.495C>T (p.Gly165=)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.140114680_140114694dup | CA891862595 | PURA | c.499_513dup (p.Arg171_Gln172insPheLeuArgIleArg)
| |
| 5 | g.140114677C>A | CA361490903 | PURA | c.496C>A (p.Arg166Ser)
| ClinVar dbSNP |
| 5 | g.140114677C= | CA1586594846 | PURA | c.496C= (p.Arg166=)
| |
| 5 | g.140114677C>G | CA361490904 | PURA | c.496C>G (p.Arg166Gly)
| |
| 5 | g.140114677C>T | CA361490905 | PURA | c.496C>T (p.Arg166Cys)
| ClinVar dbSNP |
| 5 | g.140114678G>A | CA361490906 | PURA | c.497G>A (p.Arg166His)
| |
| 5 | g.140114678G>C | CA361490907 | PURA | c.497G>C (p.Arg166Pro)
| ClinVar |
| 5 | g.140114678G>T | CA361490908 | PURA | c.497G>T (p.Arg166Leu)
| |
| 5 | g.140114679C>A | CA446830931 | PURA | c.498C>A (p.Arg166=)
| |
| 5 | g.140114679C= | CA1586594864 | PURA | c.498C= (p.Arg166=)
| |
| 5 | g.140114679C>G | CA3437472 | PURA | c.498C>G (p.Arg166=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114679C>T | CA3437471 | PURA | c.498C>T (p.Arg166=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114680T>A | CA361490909 | PURA | c.499T>A (p.Phe167Ile)
| |
| 5 | g.140114680T>C | CA361490910 | PURA | c.499T>C (p.Phe167Leu)
| |
| 5 | g.140114680T>G | CA361490911 | PURA | c.499T>G (p.Phe167Val)
| |
| 5 | g.140114681T>A | CA361490912 | PURA | c.500T>A (p.Phe167Tyr)
| |
| 5 | g.140114681T>C | CA361490913 | PURA | c.500T>C (p.Phe167Ser)
| |
| 5 | g.140114681T>G | CA361490914 | PURA | c.500T>G (p.Phe167Cys)
| |
| 5 | g.140114682C>A | CA361490915 | PURA | c.501C>A (p.Phe167Leu)
| |
| 5 | g.140114682C>G | CA361490916 | PURA | c.501C>G (p.Phe167Leu)
| ClinVar dbSNP |
| 5 | g.140114682C>T | CA446830936 | PURA | c.501C>T (p.Phe167=)
| |
| 5 | g.140114683dup | CA2499217691 | PURA | c.502dup (p.Leu168ProfsTer?)
| ClinVar dbSNP |
| 5 | g.140114683del | CA2695205331 | PURA | c.502del (p.Leu168CysfsTer?)
| |
| 5 | g.140114683C>A | CA361490917 | PURA | c.502C>A (p.Leu168Met)
| |
| 5 | g.140114683C= | CA1586594869 | PURA | c.502C= (p.Leu168=)
| |
| 5 | g.140114683C>G | CA361490918 | PURA | c.502C>G (p.Leu168Val)
| |
| 5 | g.140114683C>T | CA446830937 | PURA | c.502C>T (p.Leu168=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114684T>A | CA361490919 | PURA | c.503T>A (p.Leu168Gln)
| |
| 5 | g.140114684T>C | CA361490920 | PURA | c.503T>C (p.Leu168Pro)
| ClinVar dbSNP |
| 5 | g.140114684T>G | CA361490921 | PURA | c.503T>G (p.Leu168Arg)
| |
| 5 | g.140114684T= | CA1586594875 | PURA | c.503T= (p.Leu168=)
| |
| 5 | g.140114685G>A | CA446830938 | PURA | c.504G>A (p.Leu168=)
| gnomAD v4 |
| 5 | g.140114685G>C | CA446830939 | PURA | c.504G>C (p.Leu168=)
| |
| 5 | g.140114685G>T | CA446830940 | PURA | c.504G>T (p.Leu168=)
| |
| 5 | g.140114685_140114686delinsGC | CA1586594887 | PURA | c.504_505delinsGC (p.Leu168=)
| |
| 5 | g.140114685_140114686delinsTT | CA645372804 | PURA | c.504_505delinsTT (p.Arg169Cys)
| ClinVar dbSNP |
| 5 | g.140114686C>A | CA361490923 | PURA | c.505C>A (p.Arg169Ser)
| |
| 5 | g.140114686C>G | CA361490924 | PURA | c.505C>G (p.Arg169Gly)
| |
| 5 | g.140114686C>T | CA361490922 | PURA | c.505C>T (p.Arg169Cys)
| |
| 5 | g.140114687G>A | CA361490927 | PURA | c.506G>A (p.Arg169His)
| ClinVar gnomAD v4 |
| 5 | g.140114687G>C | CA361490925 | PURA | c.506G>C (p.Arg169Pro)
| ClinVar dbSNP |
| 5 | g.140114687G= | CA1586594899 | PURA | c.506G= (p.Arg169=)
| |
| 5 | g.140114687G>T | CA361490926 | PURA | c.506G>T (p.Arg169Leu)
| |
| 5 | g.140114687_140114694delinsGCATCCGC | CA1586594898 | PURA | c.506_513delinsGCATCCGC (p.Arg169=)
| |
| 5 | g.140114688C>A | CA446830945 | PURA | c.507C>A (p.Arg169=)
| |
| 5 | g.140114688C= | CA1586594917 | PURA | c.507C= (p.Arg169=)
| |
| 5 | g.140114688C>G | CA446830944 | PURA | c.507C>G (p.Arg169=)
| |
| 5 | g.140114688C>T | CA446830943 | PURA | c.507C>T (p.Arg169=)
| dbSNP |
| 5 | g.140114690_140114696del | CA10585984 | PURA | c.509_515del (p.Ile170ArgfsTer?)
| ClinVar dbSNP |
| 5 | g.140114689A>C | CA361490928 | PURA | c.508A>C (p.Ile170Leu)
| |
| 5 | g.140114689A>G | CA361490929 | PURA | c.508A>G (p.Ile170Val)
| gnomAD v4 |
| 5 | g.140114689A>T | CA361490930 | PURA | c.508A>T (p.Ile170Phe)
| ClinVar |
| 5 | g.140114690T>A | CA361490931 | PURA | c.509T>A (p.Ile170Asn)
| |
| 5 | g.140114690T>C | CA361490932 | PURA | c.509T>C (p.Ile170Thr)
| |
| 5 | g.140114690T>G | CA361490933 | PURA | c.509T>G (p.Ile170Ser)
| ClinVar dbSNP |
| 5 | g.140114690T= | CA1586594919 | PURA | c.509T= (p.Ile170=)
| |
| 5 | g.140114691C>A | CA446830947 | PURA | c.510C>A (p.Ile170=)
| |
| 5 | g.140114691C= | CA1586594925 | PURA | c.510C= (p.Ile170=)
| |
| 5 | g.140114691C>G | CA361490934 | PURA | c.510C>G (p.Ile170Met)
| dbSNP |
| 5 | g.140114691C>T | CA446830948 | PURA | c.510C>T (p.Ile170=)
| |
| 5 | g.140114692C>A | CA361490935 | PURA | c.511C>A (p.Arg171Ser)
| |
| 5 | g.140114692C= | CA1586594933 | PURA | c.511C= (p.Arg171=)
| |
| 5 | g.140114692C>G | CA361490936 | PURA | c.511C>G (p.Arg171Gly)
| ClinVar dbSNP |
| 5 | g.140114692C>T | CA361490937 | PURA | c.511C>T (p.Arg171Cys)
| |
| 5 | g.140114693G>A | CA361490940 | PURA | c.512G>A (p.Arg171His)
| gnomAD v4 |
| 5 | g.140114693G>C | CA361490938 | PURA | c.512G>C (p.Arg171Pro)
| ClinVar dbSNP |
| 5 | g.140114693G>T | CA361490939 | PURA | c.512G>T (p.Arg171Leu)
| |
| 5 | g.140114696_140114714del | CA2768634947 | PURA | c.515_533del (p.Gln172LeufsTer?)
| |
| 5 | g.140114694C>A | CA446830951 | PURA | c.513C>A (p.Arg171=)
| |
| 5 | g.140114694C= | CA1586594940 | PURA | c.513C= (p.Arg171=)
| |
| 5 | g.140114694C>G | CA446830952 | PURA | c.513C>G (p.Arg171=)
| |
| 5 | g.140114694C>T | CA128789407 | PURA | c.513C>T (p.Arg171=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114695C>A | CA361490941 | PURA | c.514C>A (p.Gln172Lys)
| |
| 5 | g.140114695C>G | CA361490942 | PURA | c.514C>G (p.Gln172Glu)
| |
| 5 | g.140114695C>T | CA361490943 | PURA | c.514C>T (p.Gln172Ter)
| |
| 5 | g.140114696A>C | CA361490944 | PURA | c.515A>C (p.Gln172Pro)
| |
| 5 | g.140114696A>G | CA361490945 | PURA | c.515A>G (p.Gln172Arg)
| |
| 5 | g.140114696A>T | CA361490946 | PURA | c.515A>T (p.Gln172Leu)
| |
| 5 | g.140114697G>A | CA446830955 | PURA | c.516G>A (p.Gln172=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114697G>C | CA361490947 | PURA | c.516G>C (p.Gln172His)
| |
| 5 | g.140114697G= | CA1586594944 | PURA | c.516G= (p.Gln172=)
| |
| 5 | g.140114697G>T | CA361490948 | PURA | c.516G>T (p.Gln172His)
| |
| 5 | g.140114698A= | CA1586594953 | PURA | c.517A= (p.Thr173=)
| |
| 5 | g.140114698A>C | CA361490949 | PURA | c.517A>C (p.Thr173Pro)
| |
| 5 | g.140114698A>G | CA361490950 | PURA | c.517A>G (p.Thr173Ala)
| ClinVar dbSNP |
| 5 | g.140114698A>T | CA361490951 | PURA | c.517A>T (p.Thr173Ser)
| |
| 5 | g.140114699C>A | CA361490953 | PURA | c.518C>A (p.Thr173Lys)
| ClinVar dbSNP |
| 5 | g.140114699C= | CA1586594959 | PURA | c.518C= (p.Thr173=)
| |
| 5 | g.140114699C>G | CA361490952 | PURA | c.518C>G (p.Thr173Arg)
| |
| 5 | g.140114699C>T | CA128789408 | PURA | c.518C>T (p.Thr173Met)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114700G>A | CA3437473 | PURA | c.519G>A (p.Thr173=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.140114700G>C | CA446830956 | PURA | c.519G>C (p.Thr173=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114700G= | CA1586594966 | PURA | c.519G= (p.Thr173=)
| |
| 5 | g.140114700G>T | CA446830957 | PURA | c.519G>T (p.Thr173=)
| gnomAD v4 |
| 5 | g.140114701G>A | CA361490954 | PURA | c.520G>A (p.Val174Ile)
| gnomAD v4 |
| 5 | g.140114701G>C | CA3437474 | PURA | c.520G>C (p.Val174Leu)
| dbSNP ExAC gnomAD v2 |
| 5 | g.140114701G= | CA1586594968 | PURA | c.520G= (p.Val174=)
| |
| 5 | g.140114701G>T | CA361490955 | PURA | c.520G>T (p.Val174Phe)
| |
| 5 | g.140114702T>A | CA361490956 | PURA | c.521T>A (p.Val174Asp)
| |
| 5 | g.140114702T>C | CA128789409 | PURA | c.521T>C (p.Val174Ala)
| dbSNP |
| 5 | g.140114702T>G | CA361490957 | PURA | c.521T>G (p.Val174Gly)
| |
| 5 | g.140114702T= | CA1586594976 | PURA | c.521T= (p.Val174=)
| |
| 5 | g.140114702dup | CA2695205332 | PURA | c.521dup (p.Asn175GlnfsTer26)
| |
| 5 | g.140114703C>A | CA446830958 | PURA | c.522C>A (p.Val174=)
| gnomAD v4 |
| 5 | g.140114703C= | CA1586594977 | PURA | c.522C= (p.Val174=)
| |
| 5 | g.140114703C>G | CA446830959 | PURA | c.522C>G (p.Val174=)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114703C>T | CA446830960 | PURA | c.522C>T (p.Val174=)
| gnomAD v4 |
| 5 | g.140114704A>C | CA361490958 | PURA | c.523A>C (p.Asn175His)
| |
| 5 | g.140114704A>G | CA361490959 | PURA | c.523A>G (p.Asn175Asp)
| |
| 5 | g.140114704A>T | CA361490960 | PURA | c.523A>T (p.Asn175Tyr)
| |
| 5 | g.140114705A>C | CA361490961 | PURA | c.524A>C (p.Asn175Thr)
| |
| 5 | g.140114705A>G | CA361490962 | PURA | c.524A>G (p.Asn175Ser)
| ClinVar |
| 5 | g.140114705A>T | CA361490963 | PURA | c.524A>T (p.Asn175Ile)
| |
| 5 | g.140114706C>A | CA361490965 | PURA | c.525C>A (p.Asn175Lys)
| |
| 5 | g.140114706C= | CA1586594983 | PURA | c.525C= (p.Asn175=)
| |
| 5 | g.140114706C>G | CA361490964 | PURA | c.525C>G (p.Asn175Lys)
| gnomAD v4 |
| 5 | g.140114706C>T | CA3437475 | PURA | c.525C>T (p.Asn175=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.140114707C>A | CA446830961 | PURA | c.526C>A (p.Arg176=)
| gnomAD v4 |
| 5 | g.140114707C= | CA1586594990 | PURA | c.526C= (p.Arg176=)
| |
| 5 | g.140114707C>G | CA361490966 | PURA | c.526C>G (p.Arg176Gly)
| |
| 5 | g.140114707C>T | CA361490967 | PURA | c.526C>T (p.Arg176Trp)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114708G>A | CA361490968 | PURA | c.527G>A (p.Arg176Gln)
| |
| 5 | g.140114708G>C | CA361490969 | PURA | c.527G>C (p.Arg176Pro)
| gnomAD v4 |
| 5 | g.140114708G>T | CA361490970 | PURA | c.527G>T (p.Arg176Leu)
| gnomAD v4 |
| 5 | g.140114712dup | CA2739289801 | PURA | c.531dup (p.Pro178AlafsTer23)
| |
| 5 | g.140114711_140114712dup | CA2573052438 | PURA | c.530_531dup (p.Pro178GlyfsTer?)
| ClinVar dbSNP |
| 5 | g.140114712del | CA2499217692 | PURA | c.531del (p.Pro178LeufsTer?)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.140114709G>A | CA446830965 | PURA | c.528G>A (p.Arg176=)
| |
| 5 | g.140114709G>C | CA3437476 | PURA | c.528G>C (p.Arg176=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114709G= | CA1586594996 | PURA | c.528G= (p.Arg176=)
| |
| 5 | g.140114709G>T | CA446830966 | PURA | c.528G>T (p.Arg176=)
| |
| 5 | g.140114710G>A | CA361490971 | PURA | c.529G>A (p.Gly177Arg)
| |
| 5 | g.140114710G>C | CA361490972 | PURA | c.529G>C (p.Gly177Arg)
| |
| 5 | g.140114710G>T | CA361490973 | PURA | c.529G>T (p.Gly177Trp)
| |
| 5 | g.140114715_140114737dup | CA1139659102 | PURA | c.534_556dup (p.Gln186LeufsTer?)
| ClinVar dbSNP |
| 5 | g.140114711G>A | CA361490974 | PURA | c.530G>A (p.Gly177Glu)
| gnomAD v4 |
| 5 | g.140114711G>C | CA361490975 | PURA | c.530G>C (p.Gly177Ala)
| |
| 5 | g.140114711G>T | CA361490976 | PURA | c.530G>T (p.Gly177Val)
| gnomAD v4 |
| 5 | g.140114712G>A | CA446830967 | PURA | c.531G>A (p.Gly177=)
| gnomAD v4 |
| 5 | g.140114712G>C | CA3437477 | PURA | c.531G>C (p.Gly177=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114712G= | CA1586595020 | PURA | c.531G= (p.Gly177=)
| |
| 5 | g.140114712G>T | CA446830969 | PURA | c.531G>T (p.Gly177=)
| gnomAD v4 |
| 5 | g.140114713C>A | CA361490979 | PURA | c.532C>A (p.Pro178Thr)
| |
| 5 | g.140114713C= | CA1586595035 | PURA | c.532C= (p.Pro178=)
| |
| 5 | g.140114713C>G | CA361490978 | PURA | c.532C>G (p.Pro178Ala)
| |
| 5 | g.140114713C>T | CA361490977 | PURA | c.532C>T (p.Pro178Ser)
| |
| 5 | g.140114714dup | CA1139659103 | PURA | c.533dup (p.Gly179TrpfsTer22)
| ClinVar dbSNP |
| 5 | g.140114714C>A | CA361490981 | PURA | c.533C>A (p.Pro178His)
| |
| 5 | g.140114714C>G | CA361490980 | PURA | c.533C>G (p.Pro178Arg)
| |
| 5 | g.140114714C>T | CA361490982 | PURA | c.533C>T (p.Pro178Leu)
| |
| 5 | g.140114715_140114736dup | CA915942640 | PURA | c.534_555dup (p.Gln186TrpfsTer22)
| ClinVar dbSNP |
| 5 | g.140114715T>A | CA446830973 | PURA | c.534T>A (p.Pro178=)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114715T>C | CA446830972 | PURA | c.534T>C (p.Pro178=)
| dbSNP gnomAD v2 COSMIC |
| 5 | g.140114715T>G | CA446830971 | PURA | c.534T>G (p.Pro178=)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.140114715T= | CA1586595044 | PURA | c.534T= (p.Pro178=)
| |
| 5 | g.140114716G>A | CA361490983 | PURA | c.535G>A (p.Gly179Ser)
| gnomAD v4 |
| 5 | g.140114716G>C | CA361490985 | PURA | c.535G>C (p.Gly179Arg)
| |
| 5 | g.140114716G>T | CA361490984 | PURA | c.535G>T (p.Gly179Cys)
| |
| 5 | g.140114717G>A | CA361490986 | PURA | c.536G>A (p.Gly179Asp)
| |
| 5 | g.140114717G>C | CA361490988 | PURA | c.536G>C (p.Gly179Ala)
| |
| 5 | g.140114717G>T | CA361490987 | PURA | c.536G>T (p.Gly179Val)
| |
| 5 | g.140114718C>A | CA446830980 | PURA | c.537C>A (p.Gly179=)
| |
| 5 | g.140114718C= | CA1586595059 | PURA | c.537C= (p.Gly179=)
| |
| 5 | g.140114718C>G | CA3437478 | PURA | c.537C>G (p.Gly179=)
| ClinVar dbSNP ExAC gnomAD v2 |
| 5 | g.140114718C>T | CA446830977 | PURA | c.537C>T (p.Gly179=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114719C>A | CA361490989 | PURA | c.538C>A (p.Leu180Met)
| |
| 5 | g.140114719C= | CA1586595063 | PURA | c.538C= (p.Leu180=)
| |
| 5 | g.140114719C>G | CA361490990 | PURA | c.538C>G (p.Leu180Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114719C>T | CA446830981 | PURA | c.538C>T (p.Leu180=)
| dbSNP gnomAD v4 |
| 5 | g.140114721_140114725dup | CA2695198761 | PURA | c.540_544dup (p.Ser182TrpfsTer?)
| ClinVar |
| 5 | g.140114720T>A | CA361490991 | PURA | c.539T>A (p.Leu180Gln)
| |
| 5 | g.140114720T>C | CA128789410 | PURA | c.539T>C (p.Leu180Pro)
| dbSNP |
| 5 | g.140114720T>G | CA361490992 | PURA | c.539T>G (p.Leu180Arg)
| |
| 5 | g.140114720T= | CA1586595071 | PURA | c.539T= (p.Leu180=)
| |
| 5 | g.140114721G>A | CA446830982 | PURA | c.540G>A (p.Leu180=)
| |
| 5 | g.140114721G>C | CA446830984 | PURA | c.540G>C (p.Leu180=)
| |
| 5 | g.140114721G>T | CA446830983 | PURA | c.540G>T (p.Leu180=)
| |
| 5 | g.140114722G>A | CA361490993 | PURA | c.541G>A (p.Gly181Ser)
| gnomAD v4 |
| 5 | g.140114722G>C | CA361490994 | PURA | c.541G>C (p.Gly181Arg)
| |
| 5 | g.140114722G>T | CA361490995 | PURA | c.541G>T (p.Gly181Cys)
| |
| 5 | g.140114723G>A | CA361490996 | PURA | c.542G>A (p.Gly181Asp)
| |
| 5 | g.140114723G>C | CA361490997 | PURA | c.542G>C (p.Gly181Ala)
| |
| 5 | g.140114723G>T | CA361490998 | PURA | c.542G>T (p.Gly181Val)
| |
| 5 | g.140114724C>A | CA3437480 | PURA | c.543C>A (p.Gly181=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114724C= | CA1586595077 | PURA | c.543C= (p.Gly181=)
| |
| 5 | g.140114724C>G | CA446830987 | PURA | c.543C>G (p.Gly181=)
| |
| 5 | g.140114724C>T | CA3437479 | PURA | c.543C>T (p.Gly181=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114725T>A | CA361490999 | PURA | c.544T>A (p.Ser182Thr)
| |
| 5 | g.140114725T>C | CA361491000 | PURA | c.544T>C (p.Ser182Pro)
| dbSNP |
| 5 | g.140114725T>G | CA361491001 | PURA | c.544T>G (p.Ser182Ala)
| |
| 5 | g.140114725T= | CA1586595089 | PURA | c.544T= (p.Ser182=)
| |
| 5 | g.140114726C>A | CA361491002 | PURA | c.545C>A (p.Ser182Tyr)
| |
| 5 | g.140114726C>G | CA361491003 | PURA | c.545C>G (p.Ser182Cys)
| |
| 5 | g.140114726C>T | CA361491004 | PURA | c.545C>T (p.Ser182Phe)
| |
| 5 | g.140114727C>A | CA446830992 | PURA | c.546C>A (p.Ser182=)
| |
| 5 | g.140114727C>G | CA446830994 | PURA | c.546C>G (p.Ser182=)
| |
| 5 | g.140114727C>T | CA446830995 | PURA | c.546C>T (p.Ser182=)
| |
| 5 | g.140114728A= | CA1586595094 | PURA | c.547A= (p.Thr183=)
| |
| 5 | g.140114728A>C | CA361491005 | PURA | c.547A>C (p.Thr183Pro)
| |
| 5 | g.140114728A>G | CA361491006 | PURA | c.547A>G (p.Thr183Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114728A>T | CA361491007 | PURA | c.547A>T (p.Thr183Ser)
| |
| 5 | g.140114729C>A | CA361491008 | PURA | c.548C>A (p.Thr183Lys)
| |
| 5 | g.140114729C>G | CA361491009 | PURA | c.548C>G (p.Thr183Arg)
| gnomAD v4 |
| 5 | g.140114729C>T | CA361491010 | PURA | c.548C>T (p.Thr183Met)
| |
| 5 | g.140114730G>A | CA3437481 | PURA | c.549G>A (p.Thr183=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114730G>C | CA446830996 | PURA | c.549G>C (p.Thr183=)
| |
| 5 | g.140114730G= | CA1586595099 | PURA | c.549G= (p.Thr183=)
| |
| 5 | g.140114730G>T | CA446830997 | PURA | c.549G>T (p.Thr183=)
| dbSNP |
| 5 | g.140114731C>A | CA361491013 | PURA | c.550C>A (p.Gln184Lys)
| |
| 5 | g.140114731C>G | CA361491011 | PURA | c.550C>G (p.Gln184Glu)
| |
| 5 | g.140114731C>T | CA361491012 | PURA | c.550C>T (p.Gln184Ter)
| |
| 5 | g.140114732A>C | CA361491014 | PURA | c.551A>C (p.Gln184Pro)
| |
| 5 | g.140114732A>G | CA361491015 | PURA | c.551A>G (p.Gln184Arg)
| |
| 5 | g.140114732A>T | CA361491016 | PURA | c.551A>T (p.Gln184Leu)
| |
| 5 | g.140114733G>A | CA128789411 | PURA | c.552G>A (p.Gln184=)
| dbSNP |
| 5 | g.140114733G>C | CA361491017 | PURA | c.552G>C (p.Gln184His)
| |
| 5 | g.140114733G= | CA1586595102 | PURA | c.552G= (p.Gln184=)
| |
| 5 | g.140114733G>T | CA361491018 | PURA | c.552G>T (p.Gln184His)
| |
| 5 | g.140114734G>A | CA361491019 | PURA | c.553G>A (p.Gly185Ser)
| |
| 5 | g.140114734G>C | CA361491020 | PURA | c.553G>C (p.Gly185Arg)
| |
| 5 | g.140114734G>T | CA361491021 | PURA | c.553G>T (p.Gly185Cys)
| |
| 5 | g.140114735G>A | CA361491022 | PURA | c.554G>A (p.Gly185Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114735G>C | CA361491023 | PURA | c.554G>C (p.Gly185Ala)
| |
| 5 | g.140114735G= | CA1586595109 | PURA | c.554G= (p.Gly185=)
| |
| 5 | g.140114735G>T | CA361491024 | PURA | c.554G>T (p.Gly185Val)
| |
| 5 | g.140114736C>A | CA446831001 | PURA | c.555C>A (p.Gly185=)
| |
| 5 | g.140114736C>G | CA446831002 | PURA | c.555C>G (p.Gly185=)
| |
| 5 | g.140114736C>T | CA446831003 | PURA | c.555C>T (p.Gly185=)
| gnomAD v4 |
| 5 | g.140114737C>A | CA361491026 | PURA | c.556C>A (p.Gln186Lys)
| |
| 5 | g.140114737C= | CA1586595112 | PURA | c.556C= (p.Gln186=)
| |
| 5 | g.140114737C>G | CA361491025 | PURA | c.556C>G (p.Gln186Glu)
| |
| 5 | g.140114737C>T | CA174992 | PURA | c.556C>T (p.Gln186Ter)
| ClinVar dbSNP |
| 5 | g.140114738A>C | CA361491027 | PURA | c.557A>C (p.Gln186Pro)
| |
| 5 | g.140114738A>G | CA361491028 | PURA | c.557A>G (p.Gln186Arg)
| |
| 5 | g.140114738A>T | CA361491029 | PURA | c.557A>T (p.Gln186Leu)
| |
| 5 | g.140114739G>A | CA446831005 | PURA | c.558G>A (p.Gln186=)
| |
| 5 | g.140114739G>C | CA361491030 | PURA | c.558G>C (p.Gln186His)
| |
| 5 | g.140114739G>T | CA361491031 | PURA | c.558G>T (p.Gln186His)
| |
| 5 | g.140114740A= | CA1586595117 | PURA | c.559A= (p.Thr187=)
| |
| 5 | g.140114740A>C | CA361491032 | PURA | c.559A>C (p.Thr187Pro)
| |
| 5 | g.140114740A>G | CA361491033 | PURA | c.559A>G (p.Thr187Ala)
| dbSNP gnomAD v2 |
| 5 | g.140114740A>T | CA361491034 | PURA | c.559A>T (p.Thr187Ser)
| |
| 5 | g.140114741C>A | CA361491035 | PURA | c.560C>A (p.Thr187Asn)
| gnomAD v4 |
| 5 | g.140114741C>G | CA361491036 | PURA | c.560C>G (p.Thr187Ser)
| |
| 5 | g.140114741C>T | CA361491037 | PURA | c.560C>T (p.Thr187Ile)
| |
| 5 | g.140114742C>A | CA446831012 | PURA | c.561C>A (p.Thr187=)
| |
| 5 | g.140114742C= | CA1586595122 | PURA | c.561C= (p.Thr187=)
| |
| 5 | g.140114742C>G | CA446831010 | PURA | c.561C>G (p.Thr187=)
| dbSNP |
| 5 | g.140114742C>T | CA128789412 | PURA | c.561C>T (p.Thr187=)
| dbSNP gnomAD v4 |
| 5 | g.140114744_140114759del | CA2573052440 | PURA | c.563_578del (p.Ile188ArgfsTer?)
| ClinVar dbSNP |
| 5 | g.140114743A>C | CA361491040 | PURA | c.562A>C (p.Ile188Leu)
| |
| 5 | g.140114743A>G | CA361491039 | PURA | c.562A>G (p.Ile188Val)
| |
| 5 | g.140114743A>T | CA361491038 | PURA | c.562A>T (p.Ile188Phe)
| |
| 5 | g.140114744T>A | CA361491041 | PURA | c.563T>A (p.Ile188Asn)
| |
| 5 | g.140114744T>C | CA090963 | PURA | c.563T>C (p.Ile188Thr)
| ClinVar dbSNP |
| 5 | g.140114744T>G | CA361491042 | PURA | c.563T>G (p.Ile188Ser)
| |
| 5 | g.140114744T= | CA1586595133 | PURA | c.563T= (p.Ile188=)
| |
| 5 | g.140114745T>A | CA446831013 | PURA | c.564T>A (p.Ile188=)
| |
| 5 | g.140114745T>C | CA446831015 | PURA | c.564T>C (p.Ile188=)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.140114745T>G | CA361491043 | PURA | c.564T>G (p.Ile188Met)
| |
| 5 | g.140114745T= | CA1586595144 | PURA | c.564T= (p.Ile188=)
| |
| 5 | g.140114746G>A | CA361491044 | PURA | c.565G>A (p.Ala189Thr)
| |
| 5 | g.140114746G>C | CA361491045 | PURA | c.565G>C (p.Ala189Pro)
| ClinVar dbSNP |
| 5 | g.140114746G= | CA1586595156 | PURA | c.565G= (p.Ala189=)
| |
| 5 | g.140114746G>T | CA361491046 | PURA | c.565G>T (p.Ala189Ser)
| |
| 5 | g.140114747C>A | CA361491047 | PURA | c.566C>A (p.Ala189Glu)
| |
| 5 | g.140114747C>G | CA361491048 | PURA | c.566C>G (p.Ala189Gly)
| |
| 5 | g.140114747C>T | CA361491049 | PURA | c.566C>T (p.Ala189Val)
| COSMIC |
| 5 | g.140114748G>A | CA446831019 | PURA | c.567G>A (p.Ala189=)
| dbSNP gnomAD v2 |
| 5 | g.140114748G>C | CA446831021 | PURA | c.567G>C (p.Ala189=)
| |
| 5 | g.140114748G= | CA1586595159 | PURA | c.567G= (p.Ala189=)
| |
| 5 | g.140114748G>T | CA446831020 | PURA | c.567G>T (p.Ala189=)
| gnomAD v4 |
| 5 | g.140114749C>A | CA361491050 | PURA | c.568C>A (p.Leu190Met)
| |
| 5 | g.140114749C>G | CA361491051 | PURA | c.568C>G (p.Leu190Val)
| |
| 5 | g.140114749C>T | CA446831023 | PURA | c.568C>T (p.Leu190=)
| gnomAD v4 |
| 5 | g.140114750T>A | CA361491052 | PURA | c.569T>A (p.Leu190Gln)
| |
| 5 | g.140114750T>C | CA361491053 | PURA | c.569T>C (p.Leu190Pro)
| |
| 5 | g.140114750T>G | CA361491054 | PURA | c.569T>G (p.Leu190Arg)
| |
