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) |