Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.8587797_8587981del | CA2573055418 | ANOS1 | c.544_726+2del c.541_723+2del | ClinVar dbSNP |
X | g.8587809C>A | CA412023840 | ANOS1 | c.711G>T (p.Trp237Cys) c.708G>T (p.Trp236Cys) | COSMIC |
X | g.8587809C= | CA2414618790 | ANOS1 | c.711G= (p.Trp237=) c.708G= (p.Trp236=) | |
X | g.8587809C>G | CA412023841 | ANOS1 | c.711G>C (p.Trp237Cys) c.708G>C (p.Trp236Cys) | |
X | g.8587809C>T | CA254963 | ANOS1 | c.711G>A (p.Trp237Ter) c.708G>A (p.Trp236Ter) | ClinVar dbSNP gnomAD v4 |
X | g.8587810C>A | CA412023842 | ANOS1 | c.710G>T (p.Trp237Leu) c.707G>T (p.Trp236Leu) | gnomAD v4 |
X | g.8587810C>G | CA412023844 | ANOS1 | c.710G>C (p.Trp237Ser) c.707G>C (p.Trp236Ser) | |
X | g.8587810C>T | CA412023843 | ANOS1 | c.710G>A (p.Trp237Ter) c.707G>A (p.Trp236Ter) | |
X | g.8587811A>C | CA412023845 | ANOS1 | c.709T>G (p.Trp237Gly) c.706T>G (p.Trp236Gly) | |
X | g.8587811A>G | CA412023846 | ANOS1 | c.709T>C (p.Trp237Arg) c.706T>C (p.Trp236Arg) | |
X | g.8587811A>T | CA412023847 | ANOS1 | c.709T>A (p.Trp237Arg) c.706T>A (p.Trp236Arg) | |
X | g.8587812G>A | CA10343765 | ANOS1 | c.708C>T (p.His236=) c.705C>T (p.His235=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8587812G>C | CA412023848 | ANOS1 | c.708C>G (p.His236Gln) c.705C>G (p.His235Gln) | dbSNP |
X | g.8587812G= | CA2414618791 | ANOS1 | c.708C= (p.His236=) c.705C= (p.His235=) | |
X | g.8587812G>T | CA412023849 | ANOS1 | c.708C>A (p.His236Gln) c.705C>A (p.His235Gln) | |
X | g.8587813T>A | CA412023850 | ANOS1 | c.707A>T (p.His236Leu) c.704A>T (p.His235Leu) | |
X | g.8587813T>C | CA412023851 | ANOS1 | c.707A>G (p.His236Arg) c.704A>G (p.His235Arg) | dbSNP gnomAD v4 |
X | g.8587813T>G | CA412023852 | ANOS1 | c.707A>C (p.His236Pro) c.704A>C (p.His235Pro) | |
X | g.8587813T= | CA2414618792 | ANOS1 | c.707A= (p.His236=) c.704A= (p.His235=) | |
X | g.8587814G>A | CA10343766 | ANOS1 | c.706C>T (p.His236Tyr) c.703C>T (p.His235Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.8587814G>C | CA412023853 | ANOS1 | c.706C>G (p.His236Asp) c.703C>G (p.His235Asp) | |
X | g.8587814G= | CA2414618793 | ANOS1 | c.706C= (p.His236=) c.703C= (p.His235=) | |
X | g.8587814G>T | CA412023854 | ANOS1 | c.706C>A (p.His236Asn) c.703C>A (p.His235Asn) | |
X | g.8587815A>C | CA515171706 | ANOS1 | c.705T>G (p.Thr235=) c.702T>G (p.Thr234=) | |
X | g.8587815A>G | CA515171708 | ANOS1 | c.705T>C (p.Thr235=) c.702T>C (p.Thr234=) | |
X | g.8587815A>T | CA515171707 | ANOS1 | c.705T>A (p.Thr235=) c.702T>A (p.Thr234=) | |
X | g.8587816G>A | CA412023857 | ANOS1 | c.704C>T (p.Thr235Ile) c.701C>T (p.Thr234Ile) | gnomAD v4 |
X | g.8587816G>C | CA412023855 | ANOS1 | c.704C>G (p.Thr235Ser) c.701C>G (p.Thr234Ser) | dbSNP |
X | g.8587816G= | CA2414618794 | ANOS1 | c.704C= (p.Thr235=) c.701C= (p.Thr234=) | |
X | g.8587816G>T | CA412023856 | ANOS1 | c.704C>A (p.Thr235Asn) c.701C>A (p.Thr234Asn) | |
X | g.8587817T>A | CA412023858 | ANOS1 | c.703A>T (p.Thr235Ser) c.700A>T (p.Thr234Ser) | gnomAD v4 |
X | g.8587817T>C | CA412023860 | ANOS1 | c.703A>G (p.Thr235Ala) c.700A>G (p.Thr234Ala) | |
X | g.8587817T>G | CA412023859 | ANOS1 | c.703A>C (p.Thr235Pro) c.700A>C (p.Thr234Pro) | |
X | g.8587818G>A | CA515171709 | ANOS1 | c.702C>T (p.Ala234=) c.699C>T (p.Ala233=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.8587818G>C | CA515171710 | ANOS1 | c.702C>G (p.Ala234=) c.699C>G (p.Ala233=) | |
X | g.8587818G= | CA2414618795 | ANOS1 | c.702C= (p.Ala234=) c.699C= (p.Ala233=) | |
X | g.8587818G>T | CA515171711 | ANOS1 | c.702C>A (p.Ala234=) c.699C>A (p.Ala233=) | |
X | g.8587819G>A | CA412023861 | ANOS1 | c.701C>T (p.Ala234Val) c.698C>T (p.Ala233Val) | |
X | g.8587819G>C | CA412023863 | ANOS1 | c.701C>G (p.Ala234Gly) c.698C>G (p.Ala233Gly) | |
X | g.8587819G>T | CA412023862 | ANOS1 | c.701C>A (p.Ala234Asp) c.698C>A (p.Ala233Asp) | |
X | g.8587820C>A | CA412023864 | ANOS1 | c.700G>T (p.Ala234Ser) c.697G>T (p.Ala233Ser) | |
X | g.8587820C>G | CA412023866 | ANOS1 | c.700G>C (p.Ala234Pro) c.697G>C (p.Ala233Pro) | |
X | g.8587820C>T | CA412023865 | ANOS1 | c.700G>A (p.Ala234Thr) c.697G>A (p.Ala233Thr) | gnomAD v4 |
X | g.8587821G>A | CA10343767 | ANOS1 | c.699C>T (p.Asp233=) c.696C>T (p.Asp232=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8587821G>C | CA412023867 | ANOS1 | c.699C>G (p.Asp233Glu) c.696C>G (p.Asp232Glu) | |
X | g.8587821G= | CA2414618796 | ANOS1 | c.699C= (p.Asp233=) c.696C= (p.Asp232=) | |
X | g.8587821G>T | CA412023868 | ANOS1 | c.699C>A (p.Asp233Glu) c.696C>A (p.Asp232Glu) | |
X | g.8587822T>A | CA412023869 | ANOS1 | c.698A>T (p.Asp233Val) c.695A>T (p.Asp232Val) | |
X | g.8587822T>C | CA412023870 | ANOS1 | c.698A>G (p.Asp233Gly) c.695A>G (p.Asp232Gly) | gnomAD v4 |
X | g.8587822T>G | CA412023871 | ANOS1 | c.698A>C (p.Asp233Ala) c.695A>C (p.Asp232Ala) | |
X | g.8587823del | CA2693053874 | ANOS1 | c.697del (p.Asp233ThrfsTer18) c.694del (p.Asp232ThrfsTer18) | gnomAD v4 |
X | g.8587823C>A | CA412023874 | ANOS1 | c.697G>T (p.Asp233Tyr) c.694G>T (p.Asp232Tyr) | gnomAD v4 |
X | g.8587823C>G | CA412023872 | ANOS1 | c.697G>C (p.Asp233His) c.694G>C (p.Asp232His) | |
X | g.8587823C>T | CA412023873 | ANOS1 | c.697G>A (p.Asp233Asn) c.694G>A (p.Asp232Asn) | |
X | g.8587824A>C | CA412023875 | ANOS1 | c.696T>G (p.Asp232Glu) c.693T>G (p.Asp231Glu) | |
X | g.8587824A>G | CA515171712 | ANOS1 | c.696T>C (p.Asp232=) c.693T>C (p.Asp231=) | |
X | g.8587824A>T | CA412023876 | ANOS1 | c.696T>A (p.Asp232Glu) c.693T>A (p.Asp231Glu) | |
X | g.8587825T>A | CA412023877 | ANOS1 | c.695A>T (p.Asp232Val) c.692A>T (p.Asp231Val) | |
X | g.8587825T>C | CA412023878 | ANOS1 | c.695A>G (p.Asp232Gly) c.692A>G (p.Asp231Gly) | |
X | g.8587825T>G | CA412023879 | ANOS1 | c.695A>C (p.Asp232Ala) c.692A>C (p.Asp231Ala) | |
X | g.8587826C>A | CA412023882 | ANOS1 | c.694G>T (p.Asp232Tyr) c.691G>T (p.Asp231Tyr) | |
X | g.8587826C= | CA2414618797 | ANOS1 | c.694G= (p.Asp232=) c.691G= (p.Asp231=) | |
X | g.8587826C>G | CA412023880 | ANOS1 | c.694G>C (p.Asp232His) c.691G>C (p.Asp231His) | |
X | g.8587826C>T | CA412023881 | ANOS1 | c.694G>A (p.Asp232Asn) c.691G>A (p.Asp231Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8587827T>A | CA412023883 | ANOS1 | c.693A>T (p.Glu231Asp) c.690A>T (p.Glu230Asp) | |
X | g.8587827T>C | CA515171713 | ANOS1 | c.693A>G (p.Glu231=) c.690A>G (p.Glu230=) | |
X | g.8587827T>G | CA412023884 | ANOS1 | c.693A>C (p.Glu231Asp) c.690A>C (p.Glu230Asp) | |
X | g.8587828T>A | CA412023885 | ANOS1 | c.692A>T (p.Glu231Val) c.689A>T (p.Glu230Val) | |
X | g.8587828T>C | CA412023886 | ANOS1 | c.692A>G (p.Glu231Gly) c.689A>G (p.Glu230Gly) | |
X | g.8587828T>G | CA412023887 | ANOS1 | c.692A>C (p.Glu231Ala) c.689A>C (p.Glu230Ala) | |
X | g.8587829C>A | CA412023888 | ANOS1 | c.691G>T (p.Glu231Ter) c.688G>T (p.Glu230Ter) | gnomAD v4 |
X | g.8587829C>G | CA412023889 | ANOS1 | c.691G>C (p.Glu231Gln) c.688G>C (p.Glu230Gln) | |
X | g.8587829C>T | CA412023890 | ANOS1 | c.691G>A (p.Glu231Lys) c.688G>A (p.Glu230Lys) | dbSNP gnomAD v4 |
X | g.8587830G>A | CA515171714 | ANOS1 | c.690C>T (p.Ser230=) c.687C>T (p.Ser229=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
X | g.8587830G>C | CA10343768 | ANOS1 | c.690C>G (p.Ser230Arg) c.687C>G (p.Ser229Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.8587830G= | CA2414618798 | ANOS1 | c.690C= (p.Ser230=) c.687C= (p.Ser229=) | |
X | g.8587830G>T | CA412023891 | ANOS1 | c.690C>A (p.Ser230Arg) c.687C>A (p.Ser229Arg) | gnomAD v4 |
X | g.8587831C>A | CA412023892 | ANOS1 | c.689G>T (p.Ser230Ile) c.686G>T (p.Ser229Ile) | gnomAD v4 |
X | g.8587831C>G | CA412023893 | ANOS1 | c.689G>C (p.Ser230Thr) c.686G>C (p.Ser229Thr) | |
X | g.8587831C>T | CA412023894 | ANOS1 | c.689G>A (p.Ser230Asn) c.686G>A (p.Ser229Asn) | |
X | g.8587832T>A | CA412023895 | ANOS1 | c.688A>T (p.Ser230Cys) c.685A>T (p.Ser229Cys) | |
X | g.8587832T>C | CA412023897 | ANOS1 | c.688A>G (p.Ser230Gly) c.685A>G (p.Ser229Gly) | |
X | g.8587832T>G | CA412023896 | ANOS1 | c.688A>C (p.Ser230Arg) c.685A>C (p.Ser229Arg) | |
X | g.8587833A>C | CA515171715 | ANOS1 | c.687T>G (p.Pro229=) c.684T>G (p.Pro228=) | |
X | g.8587833A>G | CA515171717 | ANOS1 | c.687T>C (p.Pro229=) c.684T>C (p.Pro228=) | gnomAD v4 |
X | g.8587833A>T | CA515171716 | ANOS1 | c.687T>A (p.Pro229=) c.684T>A (p.Pro228=) | |
X | g.8587834G>A | CA412023898 | ANOS1 | c.686C>T (p.Pro229Leu) c.683C>T (p.Pro228Leu) | |
X | g.8587834G>C | CA412023899 | ANOS1 | c.686C>G (p.Pro229Arg) c.683C>G (p.Pro228Arg) | |
X | g.8587834G>T | CA412023900 | ANOS1 | c.686C>A (p.Pro229His) c.683C>A (p.Pro228His) | |
X | g.8587835G>A | CA412023901 | ANOS1 | c.685C>T (p.Pro229Ser) c.682C>T (p.Pro228Ser) | |
X | g.8587835G>C | CA412023902 | ANOS1 | c.685C>G (p.Pro229Ala) c.682C>G (p.Pro228Ala) | |
X | g.8587835G>T | CA412023903 | ANOS1 | c.685C>A (p.Pro229Thr) c.682C>A (p.Pro228Thr) | |
X | g.8587836A>C | CA412023904 | ANOS1 | c.684T>G (p.His228Gln) c.681T>G (p.His227Gln) | |
X | g.8587836A>G | CA515171718 | ANOS1 | c.684T>C (p.His228=) c.681T>C (p.His227=) | COSMIC |
X | g.8587836A>T | CA412023905 | ANOS1 | c.684T>A (p.His228Gln) c.681T>A (p.His227Gln) | |
X | g.8587837T>A | CA412023906 | ANOS1 | c.683A>T (p.His228Leu) c.680A>T (p.His227Leu) | |
X | g.8587837T>C | CA412023907 | ANOS1 | c.683A>G (p.His228Arg) c.680A>G (p.His227Arg) | |
X | g.8587837T>G | CA412023908 | ANOS1 | c.683A>C (p.His228Pro) c.680A>C (p.His227Pro) | |
X | g.8587838G>A | CA412023909 | ANOS1 | c.682C>T (p.His228Tyr) c.679C>T (p.His227Tyr) | gnomAD v4 |
X | g.8587838G>C | CA412023910 | ANOS1 | c.682C>G (p.His228Asp) c.679C>G (p.His227Asp) | |
X | g.8587838G>T | CA412023911 | ANOS1 | c.682C>A (p.His228Asn) c.679C>A (p.His227Asn) | |
X | g.8587839G>A | CA515171719 | ANOS1 | c.681C>T (p.Ile227=) c.678C>T (p.Ile226=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.8587839G>C | CA412023912 | ANOS1 | c.681C>G (p.Ile227Met) c.678C>G (p.Ile226Met) | |
X | g.8587839G= | CA2414618799 | ANOS1 | c.681C= (p.Ile227=) c.678C= (p.Ile226=) | |
X | g.8587839G>T | CA515171720 | ANOS1 | c.681C>A (p.Ile227=) c.678C>A (p.Ile226=) | gnomAD v4 COSMIC |
X | g.8587840A>C | CA412023913 | ANOS1 | c.680T>G (p.Ile227Ser) c.677T>G (p.Ile226Ser) | |
X | g.8587840A>G | CA412023914 | ANOS1 | c.680T>C (p.Ile227Thr) c.677T>C (p.Ile226Thr) | |
X | g.8587840A>T | CA412023915 | ANOS1 | c.680T>A (p.Ile227Asn) c.677T>A (p.Ile226Asn) | |
X | g.8587841T>A | CA412023916 | ANOS1 | c.679A>T (p.Ile227Phe) c.676A>T (p.Ile226Phe) | |
X | g.8587841T>C | CA412023917 | ANOS1 | c.679A>G (p.Ile227Val) c.676A>G (p.Ile226Val) | |
X | g.8587841T>G | CA412023918 | ANOS1 | c.679A>C (p.Ile227Leu) c.676A>C (p.Ile226Leu) | |
X | g.8587842T>A | CA515171721 | ANOS1 | c.678A>T (p.Gly226=) c.675A>T (p.Gly225=) | |
X | g.8587842T>C | CA515171722 | ANOS1 | c.678A>G (p.Gly226=) c.675A>G (p.Gly225=) | gnomAD v4 |
X | g.8587842T>G | CA515171723 | ANOS1 | c.678A>C (p.Gly226=) c.675A>C (p.Gly225=) | |
X | g.8587843C>A | CA412023919 | ANOS1 | c.677G>T (p.Gly226Val) c.674G>T (p.Gly225Val) | |
X | g.8587843C>G | CA412023920 | ANOS1 | c.677G>C (p.Gly226Ala) c.674G>C (p.Gly225Ala) | |
X | g.8587843C>T | CA412023921 | ANOS1 | c.677G>A (p.Gly226Glu) c.674G>A (p.Gly225Glu) | |
X | g.8587844del | CA2579546836 | ANOS1 | c.677del (p.Gly226GlufsTer25) c.674del (p.Gly225GlufsTer25) | |
X | g.8587844C>A | CA412023922 | ANOS1 | c.676G>T (p.Gly226Ter) c.673G>T (p.Gly225Ter) | |
X | g.8587844C>G | CA412023923 | ANOS1 | c.676G>C (p.Gly226Arg) c.673G>C (p.Gly225Arg) | |
X | g.8587844C>T | CA412023924 | ANOS1 | c.676G>A (p.Gly226Arg) c.673G>A (p.Gly225Arg) | |
X | g.8587845A= | CA2414618800 | ANOS1 | c.675T= (p.Tyr225=) c.672T= (p.Tyr224=) | |
X | g.8587845A>C | CA412023925 | ANOS1 | c.675T>G (p.Tyr225Ter) c.672T>G (p.Tyr224Ter) | |
X | g.8587845A>G | CA10343769 | ANOS1 | c.675T>C (p.Tyr225=) c.672T>C (p.Tyr224=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.8587845A>T | CA412023926 | ANOS1 | c.675T>A (p.Tyr225Ter) c.672T>A (p.Tyr224Ter) | |
X | g.8587846T>A | CA412023927 | ANOS1 | c.674A>T (p.Tyr225Phe) c.671A>T (p.Tyr224Phe) | |
X | g.8587846T>C | CA412023929 | ANOS1 | c.674A>G (p.Tyr225Cys) c.671A>G (p.Tyr224Cys) | |
X | g.8587846T>G | CA412023928 | ANOS1 | c.674A>C (p.Tyr225Ser) c.671A>C (p.Tyr224Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.8587846T= | CA2414618801 | ANOS1 | c.674A= (p.Tyr225=) c.671A= (p.Tyr224=) | |
X | g.8587847A>C | CA412023930 | ANOS1 | c.673T>G (p.Tyr225Asp) c.670T>G (p.Tyr224Asp) | |
X | g.8587847A>G | CA412023931 | ANOS1 | c.673T>C (p.Tyr225His) c.670T>C (p.Tyr224His) | |
X | g.8587847A>T | CA412023932 | ANOS1 | c.673T>A (p.Tyr225Asn) c.670T>A (p.Tyr224Asn) | |
X | g.8587848A>C | CA412023933 | ANOS1 | c.672T>G (p.Asn224Lys) c.669T>G (p.Asn223Lys) | |
X | g.8587848A>G | CA515171724 | ANOS1 | c.672T>C (p.Asn224=) c.669T>C (p.Asn223=) | |
X | g.8587848A>T | CA412023934 | ANOS1 | c.672T>A (p.Asn224Lys) c.669T>A (p.Asn223Lys) | |
X | g.8587849T>A | CA412023935 | ANOS1 | c.671A>T (p.Asn224Ile) c.668A>T (p.Asn223Ile) | |
X | g.8587849T>C | CA412023936 | ANOS1 | c.671A>G (p.Asn224Ser) c.668A>G (p.Asn223Ser) | gnomAD v4 |
X | g.8587849T>G | CA412023937 | ANOS1 | c.671A>C (p.Asn224Thr) c.668A>C (p.Asn223Thr) | |
X | g.8587850T>A | CA412023938 | ANOS1 | c.670A>T (p.Asn224Tyr) c.667A>T (p.Asn223Tyr) | |
X | g.8587850T>C | CA412023939 | ANOS1 | c.670A>G (p.Asn224Asp) c.667A>G (p.Asn223Asp) | |
X | g.8587850T>G | CA412023940 | ANOS1 | c.670A>C (p.Asn224His) c.667A>C (p.Asn223His) | |
X | g.8587851C>A | CA412023943 | ANOS1 | c.669G>T (p.Trp223Cys) c.666G>T (p.Trp222Cys) | COSMIC |
X | g.8587851C>G | CA412023941 | ANOS1 | c.669G>C (p.Trp223Cys) c.666G>C (p.Trp222Cys) | |
X | g.8587851C>T | CA412023942 | ANOS1 | c.669G>A (p.Trp223Ter) c.666G>A (p.Trp222Ter) | |
X | g.8587852del | CA2693053875 | ANOS1 | c.669del (p.Trp223Ter) c.666del (p.Trp222Ter) | gnomAD v4 |
X | g.8587852C>A | CA412023944 | ANOS1 | c.668G>T (p.Trp223Leu) c.665G>T (p.Trp222Leu) | |
X | g.8587852C>G | CA412023945 | ANOS1 | c.668G>C (p.Trp223Ser) c.665G>C (p.Trp222Ser) | |
X | g.8587852C>T | CA412023946 | ANOS1 | c.668G>A (p.Trp223Ter) c.665G>A (p.Trp222Ter) | |
X | g.8587853A>C | CA412023947 | ANOS1 | c.667T>G (p.Trp223Gly) c.664T>G (p.Trp222Gly) | |
X | g.8587853A>G | CA412023948 | ANOS1 | c.667T>C (p.Trp223Arg) c.664T>C (p.Trp222Arg) | gnomAD v4 |
X | g.8587853A>T | CA412023949 | ANOS1 | c.667T>A (p.Trp223Arg) c.664T>A (p.Trp222Arg) | |
X | g.8587854T>A | CA412023950 | ANOS1 | c.666A>T (p.Arg222Ser) c.663A>T (p.Arg221Ser) | |
X | g.8587854T>C | CA515171725 | ANOS1 | c.666A>G (p.Arg222=) c.663A>G (p.Arg221=) | dbSNP gnomAD v4 |
X | g.8587854T>G | CA412023951 | ANOS1 | c.666A>C (p.Arg222Ser) c.663A>C (p.Arg221Ser) | |
X | g.8587854T= | CA2414618802 | ANOS1 | c.666A= (p.Arg222=) c.663A= (p.Arg221=) | |
X | g.8587858_8587860del | CA2738242078 | ANOS1 | c.664_666del (p.Arg222del) c.661_663del (p.Arg221del) | dbSNP |
X | g.8587855C>A | CA412023952 | ANOS1 | c.665G>T (p.Arg222Ile) c.662G>T (p.Arg221Ile) | dbSNP gnomAD v4 |
X | g.8587855C= | CA2414618803 | ANOS1 | c.665G= (p.Arg222=) c.662G= (p.Arg221=) | |
X | g.8587855C>G | CA412023953 | ANOS1 | c.665G>C (p.Arg222Thr) c.662G>C (p.Arg221Thr) | |
X | g.8587855C>T | CA412023954 | ANOS1 | c.665G>A (p.Arg222Lys) c.662G>A (p.Arg221Lys) | dbSNP gnomAD v4 |
X | g.8587856T>A | CA412023956 | ANOS1 | c.664A>T (p.Arg222Ter) c.661A>T (p.Arg221Ter) | |
X | g.8587856T>C | CA412023955 | ANOS1 | c.664A>G (p.Arg222Gly) c.661A>G (p.Arg221Gly) | |
X | g.8587856T>G | CA515171726 | ANOS1 | c.664A>C (p.Arg222=) c.661A>C (p.Arg221=) | |
X | g.8587857T>A | CA412023957 | ANOS1 | c.663A>T (p.Arg221Ser) c.660A>T (p.Arg220Ser) | |
X | g.8587857T>C | CA515171727 | ANOS1 | c.663A>G (p.Arg221=) c.660A>G (p.Arg220=) | |
X | g.8587857T>G | CA412023958 | ANOS1 | c.663A>C (p.Arg221Ser) c.660A>C (p.Arg220Ser) | |
X | g.8587858C>A | CA412023959 | ANOS1 | c.662G>T (p.Arg221Ile) c.659G>T (p.Arg220Ile) | |
X | g.8587858C>G | CA412023960 | ANOS1 | c.662G>C (p.Arg221Thr) c.659G>C (p.Arg220Thr) | |
X | g.8587858C>T | CA412023961 | ANOS1 | c.662G>A (p.Arg221Lys) c.659G>A (p.Arg220Lys) | |
X | g.8587859T>A | CA412023962 | ANOS1 | c.661A>T (p.Arg221Ter) c.658A>T (p.Arg220Ter) | |
X | g.8587859T>C | CA412023963 | ANOS1 | c.661A>G (p.Arg221Gly) c.658A>G (p.Arg220Gly) | |
X | g.8587859T>G | CA515171728 | ANOS1 | c.661A>C (p.Arg221=) c.658A>C (p.Arg220=) | |
X | g.8587860T>A | CA412023964 | ANOS1 | c.660A>T (p.Gln220His) c.657A>T (p.Gln219His) | |
X | g.8587860T>C | CA515171729 | ANOS1 | c.660A>G (p.Gln220=) c.657A>G (p.Gln219=) | dbSNP |
X | g.8587860T>G | CA412023965 | ANOS1 | c.660A>C (p.Gln220His) c.657A>C (p.Gln219His) | |
X | g.8587860T= | CA2414618804 | ANOS1 | c.660A= (p.Gln220=) c.657A= (p.Gln219=) | |
X | g.8587861T>A | CA412023966 | ANOS1 | c.659A>T (p.Gln220Leu) c.656A>T (p.Gln219Leu) | |
X | g.8587861T>C | CA412023967 | ANOS1 | c.659A>G (p.Gln220Arg) c.656A>G (p.Gln219Arg) | |
X | g.8587861T>G | CA412023968 | ANOS1 | c.659A>C (p.Gln220Pro) c.656A>C (p.Gln219Pro) | |
X | g.8587862G>A | CA412023971 | ANOS1 | c.658C>T (p.Gln220Ter) c.655C>T (p.Gln219Ter) | |
X | g.8587862G>C | CA412023970 | ANOS1 | c.658C>G (p.Gln220Glu) c.655C>G (p.Gln219Glu) | |
X | g.8587862G>T | CA412023969 | ANOS1 | c.658C>A (p.Gln220Lys) c.655C>A (p.Gln219Lys) | gnomAD v4 |
X | g.8587863T>A | CA515171730 | ANOS1 | c.657A>T (p.Val219=) c.654A>T (p.Val218=) | |
X | g.8587863T>C | CA515171731 | ANOS1 | c.657A>G (p.Val219=) c.654A>G (p.Val218=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.8587863T>G | CA515171732 | ANOS1 | c.657A>C (p.Val219=) c.654A>C (p.Val218=) | |
X | g.8587863T= | CA2414618805 | ANOS1 | c.657A= (p.Val219=) c.654A= (p.Val218=) | |
X | g.8587864A>C | CA412023972 | ANOS1 | c.656T>G (p.Val219Gly) c.653T>G (p.Val218Gly) | |
X | g.8587864A>G | CA412023973 | ANOS1 | c.656T>C (p.Val219Ala) c.653T>C (p.Val218Ala) | |
X | g.8587864A>T | CA412023974 | ANOS1 | c.656T>A (p.Val219Glu) c.653T>A (p.Val218Glu) | |
X | g.8587865C>A | CA412023975 | ANOS1 | c.655G>T (p.Val219Leu) c.652G>T (p.Val218Leu) | gnomAD v4 |
X | g.8587865C= | CA2414618806 | ANOS1 | c.655G= (p.Val219=) c.652G= (p.Val218=) | |
X | g.8587865C>G | CA412023976 | ANOS1 | c.655G>C (p.Val219Leu) c.652G>C (p.Val218Leu) | |
X | g.8587865C>T | CA10343770 | ANOS1 | c.655G>A (p.Val219Ile) c.652G>A (p.Val218Ile) | dbSNP ExAC |
X | g.8587866C>A | CA515171733 | ANOS1 | c.654G>T (p.Val218=) c.651G>T (p.Val217=) | |
X | g.8587866C= | CA2414618807 | ANOS1 | c.654G= (p.Val218=) c.651G= (p.Val217=) | |
X | g.8587866C>G | CA10343771 | ANOS1 | c.654G>C (p.Val218=) c.651G>C (p.Val217=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8587866C>T | CA515171734 | ANOS1 | c.654G>A (p.Val218=) c.651G>A (p.Val217=) | dbSNP gnomAD v2 |
X | g.8587867A= | CA2414618808 | ANOS1 | c.653T= (p.Val218=) c.650T= (p.Val217=) | |
X | g.8587867A>C | CA412023977 | ANOS1 | c.653T>G (p.Val218Gly) c.650T>G (p.Val217Gly) | |
X | g.8587867A>G | CA412023978 | ANOS1 | c.653T>C (p.Val218Ala) c.650T>C (p.Val217Ala) | dbSNP gnomAD v2 gnomAD v4 |
X | g.8587867A>T | CA412023979 | ANOS1 | c.653T>A (p.Val218Glu) c.650T>A (p.Val217Glu) | |
X | g.8587868C>A | CA412023980 | ANOS1 | c.652G>T (p.Val218Leu) c.649G>T (p.Val217Leu) | |
X | g.8587868C>G | CA412023981 | ANOS1 | c.652G>C (p.Val218Leu) c.649G>C (p.Val217Leu) | |
X | g.8587868C>T | CA412023982 | ANOS1 | c.652G>A (p.Val218Met) c.649G>A (p.Val217Met) | |
X | g.8587869A>C | CA412023984 | ANOS1 | c.651T>G (p.Tyr217Ter) c.648T>G (p.Tyr216Ter) | |
X | g.8587869A>G | CA515171735 | ANOS1 | c.651T>C (p.Tyr217=) c.648T>C (p.Tyr216=) | gnomAD v4 |
X | g.8587869A>T | CA412023983 | ANOS1 | c.651T>A (p.Tyr217Ter) c.648T>A (p.Tyr216Ter) | |
X | g.8587870T>A | CA412023985 | ANOS1 | c.650A>T (p.Tyr217Phe) c.647A>T (p.Tyr216Phe) | |
X | g.8587870T>C | CA412023987 | ANOS1 | c.650A>G (p.Tyr217Cys) c.647A>G (p.Tyr216Cys) | |
X | g.8587870T>G | CA412023986 | ANOS1 | c.650A>C (p.Tyr217Ser) c.647A>C (p.Tyr216Ser) | |
X | g.8587871A>C | CA412023988 | ANOS1 | c.649T>G (p.Tyr217Asp) c.646T>G (p.Tyr216Asp) | |
X | g.8587871A>G | CA412023990 | ANOS1 | c.649T>C (p.Tyr217His) c.646T>C (p.Tyr216His) | |
X | g.8587871A>T | CA412023989 | ANOS1 | c.649T>A (p.Tyr217Asn) c.646T>A (p.Tyr216Asn) | |
X | g.8587872G>A | CA515171736 | ANOS1 | c.648C>T (p.Ile216=) c.645C>T (p.Ile215=) | |
X | g.8587872G>C | CA412023991 | ANOS1 | c.648C>G (p.Ile216Met) c.645C>G (p.Ile215Met) | |
X | g.8587872G>T | CA515171737 | ANOS1 | c.648C>A (p.Ile216=) c.645C>A (p.Ile215=) | |
X | g.8587873A>C | CA412023992 | ANOS1 | c.647T>G (p.Ile216Ser) c.644T>G (p.Ile215Ser) | |
X | g.8587873A>G | CA412023993 | ANOS1 | c.647T>C (p.Ile216Thr) c.644T>C (p.Ile215Thr) | |
X | g.8587873A>T | CA412023994 | ANOS1 | c.647T>A (p.Ile216Asn) c.644T>A (p.Ile215Asn) | |
X | g.8587874T>A | CA412023995 | ANOS1 | c.646A>T (p.Ile216Phe) c.643A>T (p.Ile215Phe) | |
X | g.8587874T>C | CA412023996 | ANOS1 | c.646A>G (p.Ile216Val) c.643A>G (p.Ile215Val) | |
X | g.8587874T>G | CA412023997 | ANOS1 | c.646A>C (p.Ile216Leu) c.643A>C (p.Ile215Leu) | |
X | g.8587875C>A | CA515171738 | ANOS1 | c.645G>T (p.Val215=) c.642G>T (p.Val214=) | |
X | g.8587875C>G | CA515171740 | ANOS1 | c.645G>C (p.Val215=) c.642G>C (p.Val214=) | gnomAD v4 |
X | g.8587875C>T | CA515171739 | ANOS1 | c.645G>A (p.Val215=) c.642G>A (p.Val214=) | COSMIC |
X | g.8587876A>C | CA412023998 | ANOS1 | c.644T>G (p.Val215Gly) c.641T>G (p.Val214Gly) | |
X | g.8587876A>G | CA412023999 | ANOS1 | c.644T>C (p.Val215Ala) c.641T>C (p.Val214Ala) | gnomAD v4 |
X | g.8587876A>T | CA412024000 | ANOS1 | c.644T>A (p.Val215Glu) c.641T>A (p.Val214Glu) | |
X | g.8587877C>A | CA412024001 | ANOS1 | c.643G>T (p.Val215Leu) c.640G>T (p.Val214Leu) | |
X | g.8587877C>G | CA412024002 | ANOS1 | c.643G>C (p.Val215Leu) c.640G>C (p.Val214Leu) | |
X | g.8587877C>T | CA412024003 | ANOS1 | c.643G>A (p.Val215Met) c.640G>A (p.Val214Met) | |
X | g.8587878A= | CA2414618809 | ANOS1 | c.642T= (p.Pro214=) c.639T= (p.Pro213=) | |
X | g.8587878A>C | CA515171741 | ANOS1 | c.642T>G (p.Pro214=) c.639T>G (p.Pro213=) | |
X | g.8587878A>G | CA515171742 | ANOS1 | c.642T>C (p.Pro214=) c.639T>C (p.Pro213=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.8587878A>T | CA515171743 | ANOS1 | c.642T>A (p.Pro214=) c.639T>A (p.Pro213=) | |
X | g.8587879G>A | CA412024004 | ANOS1 | c.641C>T (p.Pro214Leu) c.638C>T (p.Pro213Leu) | |
X | g.8587879G>C | CA412024006 | ANOS1 | c.641C>G (p.Pro214Arg) c.638C>G (p.Pro213Arg) | |
X | g.8587879G>T | CA412024005 | ANOS1 | c.641C>A (p.Pro214His) c.638C>A (p.Pro213His) | |
X | g.8587880G>A | CA412024007 | ANOS1 | c.640C>T (p.Pro214Ser) c.637C>T (p.Pro213Ser) | |
X | g.8587880G>C | CA10343772 | ANOS1 | c.640C>G (p.Pro214Ala) c.637C>G (p.Pro213Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8587880G= | CA2414618810 | ANOS1 | c.640C= (p.Pro214=) c.637C= (p.Pro213=) | |
X | g.8587880G>T | CA412024008 | ANOS1 | c.640C>A (p.Pro214Thr) c.637C>A (p.Pro213Thr) | gnomAD v4 |
X | g.8587881C>A | CA412024009 | ANOS1 | c.639G>T (p.Glu213Asp) c.636G>T (p.Glu212Asp) | |
X | g.8587881C= | CA2414618811 | ANOS1 | c.639G= (p.Glu213=) c.636G= (p.Glu212=) | |
X | g.8587881C>G | CA412024010 | ANOS1 | c.639G>C (p.Glu213Asp) c.636G>C (p.Glu212Asp) | |
X | g.8587881C>T | CA10343773 | ANOS1 | c.639G>A (p.Glu213=) c.636G>A (p.Glu212=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8587882T>A | CA412024011 | ANOS1 | c.638A>T (p.Glu213Val) c.635A>T (p.Glu212Val) | |
X | g.8587882T>C | CA412024012 | ANOS1 | c.638A>G (p.Glu213Gly) c.635A>G (p.Glu212Gly) | COSMIC |
X | g.8587882T>G | CA412024013 | ANOS1 | c.638A>C (p.Glu213Ala) c.635A>C (p.Glu212Ala) | |
X | g.8587883C>A | CA412024016 | ANOS1 | c.637G>T (p.Glu213Ter) c.634G>T (p.Glu212Ter) | |
X | g.8587883C>G | CA412024015 | ANOS1 | c.637G>C (p.Glu213Gln) c.634G>C (p.Glu212Gln) | |
X | g.8587883C>T | CA412024014 | ANOS1 | c.637G>A (p.Glu213Lys) c.634G>A (p.Glu212Lys) | |
X | g.8587884A>C | CA412024017 | ANOS1 | c.636T>G (p.Ile212Met) c.633T>G (p.Ile211Met) | gnomAD v4 |
X | g.8587884A>G | CA515171744 | ANOS1 | c.636T>C (p.Ile212=) c.633T>C (p.Ile211=) | |
X | g.8587884A>T | CA515171745 | ANOS1 | c.636T>A (p.Ile212=) c.633T>A (p.Ile211=) | |
X | g.8587885A>C | CA412024018 | ANOS1 | c.635T>G (p.Ile212Ser) c.632T>G (p.Ile211Ser) | |
X | g.8587885A>G | CA412024019 | ANOS1 | c.635T>C (p.Ile212Thr) c.632T>C (p.Ile211Thr) | |
X | g.8587885A>T | CA412024020 | ANOS1 | c.635T>A (p.Ile212Asn) c.632T>A (p.Ile211Asn) | |
X | g.8587886T>A | CA412024021 | ANOS1 | c.634A>T (p.Ile212Phe) c.631A>T (p.Ile211Phe) | dbSNP gnomAD v4 |
X | g.8587886T>C | CA10343774 | ANOS1 | c.634A>G (p.Ile212Val) c.631A>G (p.Ile211Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.8587886T>G | CA412024022 | ANOS1 | c.634A>C (p.Ile212Leu) c.631A>C (p.Ile211Leu) | gnomAD v4 |
X | g.8587886T= | CA2414618812 | ANOS1 | c.634A= (p.Ile212=) c.631A= (p.Ile211=) | |
X | g.8587887A>C | CA515171746 | ANOS1 | c.633T>G (p.Ser211=) c.630T>G (p.Ser210=) | COSMIC |
X | g.8587887A>G | CA515171747 | ANOS1 | c.633T>C (p.Ser211=) c.630T>C (p.Ser210=) | |
X | g.8587887A>T | CA515171748 | ANOS1 | c.633T>A (p.Ser211=) c.630T>A (p.Ser210=) | |
X | g.8587888G>A | CA412024023 | ANOS1 | c.632C>T (p.Ser211Phe) c.629C>T (p.Ser210Phe) | |
X | g.8587888G>C | CA412024025 | ANOS1 | c.632C>G (p.Ser211Cys) c.629C>G (p.Ser210Cys) | |
X | g.8587888G>T | CA412024024 | ANOS1 | c.632C>A (p.Ser211Tyr) c.629C>A (p.Ser210Tyr) | |
X | g.8587889A>C | CA412024026 | ANOS1 | c.631T>G (p.Ser211Ala) c.628T>G (p.Ser210Ala) | |
X | g.8587889A>G | CA412024027 | ANOS1 | c.631T>C (p.Ser211Pro) c.628T>C (p.Ser210Pro) | |
X | g.8587889A>T | CA412024028 | ANOS1 | c.631T>A (p.Ser211Thr) c.628T>A (p.Ser210Thr) | |
X | g.8587890A>C | CA412024029 | ANOS1 | c.630T>G (p.Ile210Met) c.627T>G (p.Ile209Met) | |
X | g.8587890A>G | CA515171749 | ANOS1 | c.630T>C (p.Ile210=) c.627T>C (p.Ile209=) | |
X | g.8587890A>T | CA515171750 | ANOS1 | c.630T>A (p.Ile210=) c.627T>A (p.Ile209=) | |
X | g.8587891A>C | CA412024030 | ANOS1 | c.629T>G (p.Ile210Ser) c.626T>G (p.Ile209Ser) | |
X | g.8587891A>G | CA412024032 | ANOS1 | c.629T>C (p.Ile210Thr) c.626T>C (p.Ile209Thr) | |
X | g.8587891A>T | CA412024031 | ANOS1 | c.629T>A (p.Ile210Asn) c.626T>A (p.Ile209Asn) | |
X | g.8587893_8587894del | CA2695231206 | ANOS1 | c.628_629del (p.Ile210PhefsTer3) c.625_626del (p.Ile209PhefsTer3) | |
X | g.8587892T>A | CA412024033 | ANOS1 | c.628A>T (p.Ile210Phe) c.625A>T (p.Ile209Phe) | |
X | g.8587892T>C | CA412024034 | ANOS1 | c.628A>G (p.Ile210Val) c.625A>G (p.Ile209Val) | |
X | g.8587892T>G | CA412024035 | ANOS1 | c.628A>C (p.Ile210Leu) c.625A>C (p.Ile209Leu) | |
X | g.8587893A>C | CA412024036 | ANOS1 | c.627T>G (p.Asn209Lys) c.624T>G (p.Asn208Lys) | |
X | g.8587893A>G | CA515171751 | ANOS1 | c.627T>C (p.Asn209=) c.624T>C (p.Asn208=) | |
X | g.8587893A>T | CA412024037 | ANOS1 | c.627T>A (p.Asn209Lys) c.624T>A (p.Asn208Lys) | |
X | g.8587894T>A | CA412024038 | ANOS1 | c.626A>T (p.Asn209Ile) c.623A>T (p.Asn208Ile) | |
X | g.8587894T>C | CA10343775 | ANOS1 | c.626A>G (p.Asn209Ser) c.623A>G (p.Asn208Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8587894T>G | CA412024039 | ANOS1 | c.626A>C (p.Asn209Thr) c.623A>C (p.Asn208Thr) | |
X | g.8587894T= | CA2414618813 | ANOS1 | c.626A= (p.Asn209=) c.623A= (p.Asn208=) | |
X | g.8587895T>A | CA412024040 | ANOS1 | c.625A>T (p.Asn209Tyr) c.622A>T (p.Asn208Tyr) | |
X | g.8587895T>C | CA412024041 | ANOS1 | c.625A>G (p.Asn209Asp) c.622A>G (p.Asn208Asp) | |
X | g.8587895T>G | CA412024042 | ANOS1 | c.625A>C (p.Asn209His) c.622A>C (p.Asn208His) | |
X | g.8587896G>A | CA515171752 | ANOS1 | c.624C>T (p.Phe208=) c.621C>T (p.Phe207=) | |
X | g.8587896G>C | CA412024043 | ANOS1 | c.624C>G (p.Phe208Leu) c.621C>G (p.Phe207Leu) | |
X | g.8587896G>T | CA412024044 | ANOS1 | c.624C>A (p.Phe208Leu) c.621C>A (p.Phe207Leu) | |
X | g.8587897A>C | CA412024045 | ANOS1 | c.623T>G (p.Phe208Cys) c.620T>G (p.Phe207Cys) | |
X | g.8587897A>G | CA412024047 | ANOS1 | c.623T>C (p.Phe208Ser) c.620T>C (p.Phe207Ser) | gnomAD v4 |
X | g.8587897A>T | CA412024046 | ANOS1 | c.623T>A (p.Phe208Tyr) c.620T>A (p.Phe207Tyr) | |
X | g.8587898A>C | CA412024048 | ANOS1 | c.622T>G (p.Phe208Val) c.619T>G (p.Phe207Val) | |
X | g.8587898A>G | CA412024049 | ANOS1 | c.622T>C (p.Phe208Leu) c.619T>C (p.Phe207Leu) | |
X | g.8587898A>T | CA412024050 | ANOS1 | c.622T>A (p.Phe208Ile) c.619T>A (p.Phe207Ile) | COSMIC |
X | g.8587899T>A | CA412024051 | ANOS1 | c.621A>T (p.Lys207Asn) c.618A>T (p.Lys206Asn) | dbSNP gnomAD v2 gnomAD v4 |
X | g.8587899T>C | CA10343776 | ANOS1 | c.621A>G (p.Lys207=) c.618A>G (p.Lys206=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8587899T>G | CA412024052 | ANOS1 | c.621A>C (p.Lys207Asn) c.618A>C (p.Lys206Asn) | |
X | g.8587899T= | CA2414618814 | ANOS1 | c.621A= (p.Lys207=) c.618A= (p.Lys206=) | |
X | g.8587900T>A | CA412024053 | ANOS1 | c.620A>T (p.Lys207Ile) c.617A>T (p.Lys206Ile) | |
X | g.8587900T>C | CA412024054 | ANOS1 | c.620A>G (p.Lys207Arg) c.617A>G (p.Lys206Arg) | |
X | g.8587900T>G | CA412024055 | ANOS1 | c.620A>C (p.Lys207Thr) c.617A>C (p.Lys206Thr) | |
X | g.8587901T>A | CA412024056 | ANOS1 | c.619A>T (p.Lys207Ter) c.616A>T (p.Lys206Ter) | |
X | g.8587901T>C | CA412024057 | ANOS1 | c.619A>G (p.Lys207Glu) c.616A>G (p.Lys206Glu) | |
X | g.8587901T>G | CA412024058 | ANOS1 | c.619A>C (p.Lys207Gln) c.616A>C (p.Lys206Gln) | |
X | g.8587902C>A | CA515171753 | ANOS1 | c.618G>T (p.Ser206=) c.615G>T (p.Ser205=) | |
X | g.8587902C= | CA2414618815 | ANOS1 | c.618G= (p.Ser206=) c.615G= (p.Ser205=) | |
X | g.8587902C>G | CA515171754 | ANOS1 | c.618G>C (p.Ser206=) c.615G>C (p.Ser205=) | |
X | g.8587902C>T | CA10343777 | ANOS1 | c.618G>A (p.Ser206=) c.615G>A (p.Ser205=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8587903G>A | CA412024059 | ANOS1 | c.617C>T (p.Ser206Leu) c.614C>T (p.Ser205Leu) | dbSNP |
X | g.8587903G>C | CA412024060 | ANOS1 | c.617C>G (p.Ser206Trp) c.614C>G (p.Ser205Trp) | |
X | g.8587903G= | CA2414618816 | ANOS1 | c.617C= (p.Ser206=) c.614C= (p.Ser205=) | |
X | g.8587903G>T | CA412024061 | ANOS1 | c.617C>A (p.Ser206Ter) c.614C>A (p.Ser205Ter) | |
X | g.8587904A>C | CA412024062 | ANOS1 | c.616T>G (p.Ser206Ala) c.613T>G (p.Ser205Ala) | |
X | g.8587904A>G | CA412024063 | ANOS1 | c.616T>C (p.Ser206Pro) c.613T>C (p.Ser205Pro) | COSMIC |
X | g.8587904A>T | CA412024064 | ANOS1 | c.616T>A (p.Ser206Thr) c.613T>A (p.Ser205Thr) | |
X | g.8587905G>A | CA515171755 | ANOS1 | c.615C>T (p.Ser205=) c.612C>T (p.Ser204=) | |
X | g.8587905G>C | CA515171756 | ANOS1 | c.615C>G (p.Ser205=) c.612C>G (p.Ser204=) | |
X | g.8587905G>T | CA515171757 | ANOS1 | c.615C>A (p.Ser205=) c.612C>A (p.Ser204=) | |
X | g.8587906G>A | CA412024065 | ANOS1 | c.614C>T (p.Ser205Phe) c.611C>T (p.Ser204Phe) | gnomAD v4 |
X | g.8587906G>C | CA412024066 | ANOS1 | c.614C>G (p.Ser205Cys) c.611C>G (p.Ser204Cys) | |
X | g.8587906G>T | CA412024067 | ANOS1 | c.614C>A (p.Ser205Tyr) c.611C>A (p.Ser204Tyr) | |
X | g.8587907A= | CA2414618817 | ANOS1 | c.613T= (p.Ser205=) c.610T= (p.Ser204=) | |
X | g.8587907A>C | CA412024068 | ANOS1 | c.613T>G (p.Ser205Ala) c.610T>G (p.Ser204Ala) | |
X | g.8587907A>G | CA412024069 | ANOS1 | c.613T>C (p.Ser205Pro) c.610T>C (p.Ser204Pro) | |
X | g.8587907A>T | CA412024070 | ANOS1 | c.613T>A (p.Ser205Thr) c.610T>A (p.Ser204Thr) | dbSNP gnomAD v4 |
X | g.8587908C>A | CA412024072 | ANOS1 | c.612G>T (p.Trp204Cys) c.609G>T (p.Trp203Cys) | |
X | g.8587908C>G | CA412024073 | ANOS1 | c.612G>C (p.Trp204Cys) c.609G>C (p.Trp203Cys) | |
X | g.8587908C>T | CA412024071 | ANOS1 | c.612G>A (p.Trp204Ter) c.609G>A (p.Trp203Ter) | |
X | g.8587909del | CA2579546837 | ANOS1 | c.612del (p.Trp204CysfsTer12) c.609del (p.Trp203CysfsTer12) | |
X | g.8587909C>A | CA412024074 | ANOS1 | c.611G>T (p.Trp204Leu) c.608G>T (p.Trp203Leu) | |
X | g.8587909C>G | CA412024075 | ANOS1 | c.611G>C (p.Trp204Ser) c.608G>C (p.Trp203Ser) | |
X | g.8587909C>T | CA412024076 | ANOS1 | c.611G>A (p.Trp204Ter) c.608G>A (p.Trp203Ter) | |
X | g.8587910_8587911del | CA2695231207 | ANOS1 | c.610_611del (p.Trp204ValfsTer9) c.607_608del (p.Trp203ValfsTer9) |