Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.8587743T>C | CA2693053833 | ANOS1 | c.726+51A>G (n.726+51A>G) c.723+51A>G (n.723+51A>G) | gnomAD v4 |
X | g.8587745G>T | CA2579546827 | ANOS1 | c.726+49C>A (n.726+49C>A) c.723+49C>A (n.723+49C>A) | gnomAD v4 |
X | g.8587746C>A | CA2693053834 | ANOS1 | c.726+48G>T (n.726+48G>T) c.723+48G>T (n.723+48G>T) | gnomAD v4 |
X | g.8587746C>G | CA2693053835 | ANOS1 | c.726+48G>C (n.726+48G>C) c.723+48G>C (n.723+48G>C) | gnomAD v4 |
X | g.8587746C>T | CA2693053836 | ANOS1 | c.726+48G>A (n.726+48G>A) c.723+48G>A (n.723+48G>A) | gnomAD v4 |
X | g.8587747A= | CA2414618770 | ANOS1 | c.726+47T= (n.726+47T=) c.723+47T= (n.723+47T=) | |
X | g.8587747A>G | CA10343757 | ANOS1 | c.726+47T>C (n.726+47T>C) c.723+47T>C (n.723+47T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.8587747A>T | CA2693053837 | ANOS1 | c.726+47T>A (n.726+47T>A) c.723+47T>A (n.723+47T>A) | gnomAD v4 |
X | g.8587748G>A | CA2693053838 | ANOS1 | c.726+46C>T (n.726+46C>T) c.723+46C>T (n.723+46C>T) | gnomAD v4 |
X | g.8587748G>T | CA2507099324 | ANOS1 | c.726+46C>A (n.726+46C>A) c.723+46C>A (n.723+46C>A) | gnomAD v4 |
X | g.8587750C>A | CA2693053839 | ANOS1 | c.726+44G>T (n.726+44G>T) c.723+44G>T (n.723+44G>T) | gnomAD v4 |
X | g.8587750C>G | CA2579546828 | ANOS1 | c.726+44G>C (n.726+44G>C) c.723+44G>C (n.723+44G>C) | |
X | g.8587750_8587754delinsCACTA | CA2414618771 | ANOS1 | c.726+40_726+44delinsTAGTG (n.726+40_726+44delinsTAGTG) c.723+40_723+44delinsTAGTG (n.723+40_723+44delinsTAGTG) | |
X | g.8587751A>T | CA2693053840 | ANOS1 | c.726+43T>A (n.726+43T>A) c.723+43T>A (n.723+43T>A) | gnomAD v4 |
X | g.8587751_8587754del | CA640857212 | ANOS1 | c.726+40_726+43del (n.726+40_726+43del) c.723+40_723+43del (n.723+40_723+43del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8587752C>A | CA2693053841 | ANOS1 | c.726+42G>T (n.726+42G>T) c.723+42G>T (n.723+42G>T) | gnomAD v4 |
X | g.8587752C= | CA2414618772 | ANOS1 | c.726+42G= (n.726+42G=) c.723+42G= (n.723+42G=) | |
X | g.8587753T>C | CA2693053842 | ANOS1 | c.726+41A>G (n.726+41A>G) c.723+41A>G (n.723+41A>G) | gnomAD v4 |
X | g.8587753_8587754dup | CA10343758 | ANOS1 | c.726+40_726+41dup (n.726+40_726+41dup) c.723+40_723+41dup (n.723+40_723+41dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8587755C>A | CA2693053843 | ANOS1 | c.726+39G>T (n.726+39G>T) c.723+39G>T (n.723+39G>T) | gnomAD v4 |
X | g.8587755C>T | CA2693053844 | ANOS1 | c.726+39G>A (n.726+39G>A) c.723+39G>A (n.723+39G>A) | gnomAD v4 |
X | g.8587756C>A | CA2693053845 | ANOS1 | c.726+38G>T (n.726+38G>T) c.723+38G>T (n.723+38G>T) | gnomAD v4 |
X | g.8587756C>T | CA2693053846 | ANOS1 | c.726+38G>A (n.726+38G>A) c.723+38G>A (n.723+38G>A) | gnomAD v4 |
X | g.8587757T>C | CA2693053847 | ANOS1 | c.726+37A>G (n.726+37A>G) c.723+37A>G (n.723+37A>G) | gnomAD v4 |
X | g.8587758C>A | CA2693053848 | ANOS1 | c.726+36G>T (n.726+36G>T) c.723+36G>T (n.723+36G>T) | gnomAD v4 |
X | g.8587758C= | CA2414618773 | ANOS1 | c.726+36G= (n.726+36G=) c.723+36G= (n.723+36G=) | |
X | g.8587758C>G | CA640857213 | ANOS1 | c.726+36G>C (n.726+36G>C) c.723+36G>C (n.723+36G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8587758C>T | CA2838232848 | ANOS1 | c.726+36G>A (n.726+36G>A) c.723+36G>A (n.723+36G>A) | |
X | g.8587759C>A | CA2693053849 | ANOS1 | c.726+35G>T (n.726+35G>T) c.723+35G>T (n.723+35G>T) | gnomAD v4 |
X | g.8587760A>G | CA2693053850 | ANOS1 | c.726+34T>C (n.726+34T>C) c.723+34T>C (n.723+34T>C) | gnomAD v4 |
X | g.8587761G>T | CA2579546829 | ANOS1 | c.726+33C>A (n.726+33C>A) c.723+33C>A (n.723+33C>A) | gnomAD v4 |
X | g.8587762G>A | CA2693053851 | ANOS1 | c.726+32C>T (n.726+32C>T) c.723+32C>T (n.723+32C>T) | gnomAD v4 |
X | g.8587762G>C | CA2693053852 | ANOS1 | c.726+32C>G (n.726+32C>G) c.723+32C>G (n.723+32C>G) | gnomAD v4 |
X | g.8587762G>T | CA2693053853 | ANOS1 | c.726+32C>A (n.726+32C>A) c.723+32C>A (n.723+32C>A) | gnomAD v4 |
X | g.8587764T>C | CA640857214 | ANOS1 | c.726+30A>G (n.726+30A>G) c.723+30A>G (n.723+30A>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.8587764T>G | CA2579546830 | ANOS1 | c.726+30A>C (n.726+30A>C) c.723+30A>C (n.723+30A>C) | gnomAD v4 |
X | g.8587764T= | CA2414618774 | ANOS1 | c.726+30A= (n.726+30A=) c.723+30A= (n.723+30A=) | |
X | g.8587765G>A | CA10343759 | ANOS1 | c.726+29C>T (n.726+29C>T) c.723+29C>T (n.723+29C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8587765G= | CA2414618775 | ANOS1 | c.726+29C= (n.726+29C=) c.723+29C= (n.723+29C=) | |
X | g.8587765G>T | CA2579546831 | ANOS1 | c.726+29C>A (n.726+29C>A) c.723+29C>A (n.723+29C>A) | gnomAD v4 |
X | g.8587766A>G | CA2693053854 | ANOS1 | c.726+28T>C (n.726+28T>C) c.723+28T>C (n.723+28T>C) | gnomAD v4 |
X | g.8587767A>G | CA2693053855 | ANOS1 | c.726+27T>C (n.726+27T>C) c.723+27T>C (n.723+27T>C) | gnomAD v4 |
X | g.8587768A>G | CA2693053856 | ANOS1 | c.726+26T>C (n.726+26T>C) c.723+26T>C (n.723+26T>C) | gnomAD v4 |
X | g.8587768A>T | CA2693053857 | ANOS1 | c.726+26T>A (n.726+26T>A) c.723+26T>A (n.723+26T>A) | gnomAD v4 |
X | g.8587769A>G | CA2693053858 | ANOS1 | c.726+25T>C (n.726+25T>C) c.723+25T>C (n.723+25T>C) | gnomAD v4 |
X | g.8587770T>C | CA2693053859 | ANOS1 | c.726+24A>G (n.726+24A>G) c.723+24A>G (n.723+24A>G) | gnomAD v4 |
X | g.8587771del | CA2579546832 | ANOS1 | c.726+23del (n.726+23del) c.723+23del (n.723+23del) | |
X | g.8587771C>A | CA2693053861 | ANOS1 | c.726+23G>T (n.726+23G>T) c.723+23G>T (n.723+23G>T) | gnomAD v4 |
X | g.8587771C>G | CA2579546833 | ANOS1 | c.726+23G>C (n.726+23G>C) c.723+23G>C (n.723+23G>C) | |
X | g.8587771C>T | CA2693053860 | ANOS1 | c.726+23G>A (n.726+23G>A) c.723+23G>A (n.723+23G>A) | gnomAD v4 |
X | g.8587772A= | CA2414618776 | ANOS1 | c.726+22T= (n.726+22T=) c.723+22T= (n.723+22T=) | |
X | g.8587772A>G | CA10343760 | ANOS1 | c.726+22T>C (n.726+22T>C) c.723+22T>C (n.723+22T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8587772A>T | CA640857215 | ANOS1 | c.726+22T>A (n.726+22T>A) c.723+22T>A (n.723+22T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8587773A>G | CA2693053862 | ANOS1 | c.726+21T>C (n.726+21T>C) c.723+21T>C (n.723+21T>C) | gnomAD v4 |
X | g.8587774A>T | CA2693053863 | ANOS1 | c.726+20T>A (n.726+20T>A) c.723+20T>A (n.723+20T>A) | gnomAD v4 |
X | g.8587775G>T | CA2693053864 | ANOS1 | c.726+19C>A (n.726+19C>A) c.723+19C>A (n.723+19C>A) | gnomAD v4 |
X | g.8587777C>A | CA2693053865 | ANOS1 | c.726+17G>T (n.726+17G>T) c.723+17G>T (n.723+17G>T) | gnomAD v4 |
X | g.8587778T>C | CA2579546834 | ANOS1 | c.726+16A>G (n.726+16A>G) c.723+16A>G (n.723+16A>G) | |
X | g.8587779A>C | CA2693053866 | ANOS1 | c.726+15T>G (n.726+15T>G) c.723+15T>G (n.723+15T>G) | gnomAD v4 |
X | g.8587779A>G | CA2693053867 | ANOS1 | c.726+15T>C (n.726+15T>C) c.723+15T>C (n.723+15T>C) | gnomAD v4 |
X | g.8587779A>T | CA2838232847 | ANOS1 | c.726+15T>A (n.726+15T>A) c.723+15T>A (n.723+15T>A) | |
X | g.8587780T>C | CA10343761 | ANOS1 | c.726+14A>G (n.726+14A>G) c.723+14A>G (n.723+14A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8587780T= | CA2414618777 | ANOS1 | c.726+14A= (n.726+14A=) c.723+14A= (n.723+14A=) | |
X | g.8587781A= | CA2414618779 | ANOS1 | c.726+13T= (n.726+13T=) c.723+13T= (n.723+13T=) | |
X | g.8587781A>G | CA640857216 | ANOS1 | c.726+13T>C (n.726+13T>C) c.723+13T>C (n.723+13T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8587781A>T | CA2580101969 | ANOS1 | c.726+13T>A (n.726+13T>A) c.723+13T>A (n.723+13T>A) | ClinVar |
X | g.8587781dup | CA2414618778 | ANOS1 | c.726+13dup (n.726+13dup) c.723+13dup (n.723+13dup) | dbSNP gnomAD v4 |
X | g.8587782T>A | CA640857217 | ANOS1 | c.726+12A>T (n.726+12A>T) c.723+12A>T (n.723+12A>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.8587782T>C | CA2693053868 | ANOS1 | c.726+12A>G (n.726+12A>G) c.723+12A>G (n.723+12A>G) | gnomAD v4 |
X | g.8587782T>G | CA2579546835 | ANOS1 | c.726+12A>C (n.726+12A>C) c.723+12A>C (n.723+12A>C) | gnomAD v4 |
X | g.8587782T= | CA2414618780 | ANOS1 | c.726+12A= (n.726+12A=) c.723+12A= (n.723+12A=) | |
X | g.8587783G>A | CA10343762 | ANOS1 | c.726+11C>T (n.726+11C>T) c.723+11C>T (n.723+11C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.8587783G= | CA2414618781 | ANOS1 | c.726+11C= (n.726+11C=) c.723+11C= (n.723+11C=) | |
X | g.8587783G>T | CA2693053869 | ANOS1 | c.726+11C>A (n.726+11C>A) c.723+11C>A (n.723+11C>A) | gnomAD v4 |
X | g.8587784A>G | CA2693053870 | ANOS1 | c.726+10T>C (n.726+10T>C) c.723+10T>C (n.723+10T>C) | gnomAD v4 |
X | g.8587784A>T | CA2693053871 | ANOS1 | c.726+10T>A (n.726+10T>A) c.723+10T>A (n.723+10T>A) | gnomAD v4 |
X | g.8587785G>A | CA640857218 | ANOS1 | c.726+9C>T (n.726+9C>T) c.723+9C>T (n.723+9C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.8587785G>C | CA2414618783 | ANOS1 | c.726+9C>G (n.726+9C>G) c.723+9C>G (n.723+9C>G) | dbSNP |
X | g.8587785G= | CA2414618782 | ANOS1 | c.726+9C= (n.726+9C=) c.723+9C= (n.723+9C=) | |
X | g.8587785G>T | CA2693053872 | ANOS1 | c.726+9C>A (n.726+9C>A) c.723+9C>A (n.723+9C>A) | gnomAD v4 |
X | g.8587786G>A | CA2414618785 | ANOS1 | c.726+8C>T (n.726+8C>T) c.723+8C>T (n.723+8C>T) | dbSNP |
X | g.8587786G= | CA2414618784 | ANOS1 | c.726+8C= (n.726+8C=) c.723+8C= (n.723+8C=) | |
X | g.8587786G>T | CA879152672 | ANOS1 | c.726+8C>A (n.726+8C>A) c.723+8C>A (n.723+8C>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.8587790T>A | CA2693053873 | ANOS1 | c.726+4A>T (n.726+4A>T) c.723+4A>T (n.723+4A>T) | gnomAD v4 |
X | g.8587792A>C | CA412023801 | ANOS1 | c.726+2T>G (n.726+2T>G) c.723+2T>G (n.723+2T>G) | |
X | g.8587792A>G | CA412023799 | ANOS1 | c.726+2T>C (n.726+2T>C) c.723+2T>C (n.723+2T>C) | |
X | g.8587792A>T | CA412023800 | ANOS1 | c.726+2T>A (n.726+2T>A) c.723+2T>A (n.723+2T>A) | |
X | g.8587797_8587981del | CA2573055418 | ANOS1 | c.544_726+2del c.541_723+2del | ClinVar dbSNP |
X | g.8587793C>A | CA412023802 | ANOS1 | c.726+1G>T (n.726+1G>T) c.723+1G>T (n.723+1G>T) | |
X | g.8587793C>G | CA412023803 | ANOS1 | c.726+1G>C (n.726+1G>C) c.723+1G>C (n.723+1G>C) | |
X | g.8587793C>T | CA412023804 | ANOS1 | c.726+1G>A (n.726+1G>A) c.723+1G>A (n.723+1G>A) | |
X | g.8587794C>A | CA412023805 | ANOS1 | c.726G>T (p.Gln242His) c.723G>T (p.Gln241His) | gnomAD v4 |
X | g.8587794C>G | CA412023806 | ANOS1 | c.726G>C (p.Gln242His) c.723G>C (p.Gln241His) | |
X | g.8587794C>T | CA515171696 | ANOS1 | c.726G>A (p.Gln242=) c.723G>A (p.Gln241=) | |
X | g.8587795T>A | CA412023807 | ANOS1 | c.725A>T (p.Gln242Leu) c.722A>T (p.Gln241Leu) | |
X | g.8587795T>C | CA412023808 | ANOS1 | c.725A>G (p.Gln242Arg) c.722A>G (p.Gln241Arg) | |
X | g.8587795T>G | CA412023809 | ANOS1 | c.725A>C (p.Gln242Pro) c.722A>C (p.Gln241Pro) | |
X | g.8587796G>A | CA412023810 | ANOS1 | c.724C>T (p.Gln242Ter) c.721C>T (p.Gln241Ter) | gnomAD v4 |
X | g.8587796G>C | CA412023811 | ANOS1 | c.724C>G (p.Gln242Glu) c.721C>G (p.Gln241Glu) | |
X | g.8587796G>T | CA412023812 | ANOS1 | c.724C>A (p.Gln242Lys) c.721C>A (p.Gln241Lys) | gnomAD v4 |
X | g.8587797G>A | CA515171697 | ANOS1 | c.723C>T (p.Ala241=) c.720C>T (p.Ala240=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.8587797G>C | CA515171698 | ANOS1 | c.723C>G (p.Ala241=) c.720C>G (p.Ala240=) | |
X | g.8587797G= | CA2414618786 | ANOS1 | c.723C= (p.Ala241=) c.720C= (p.Ala240=) | |
X | g.8587797G>T | CA10343763 | ANOS1 | c.723C>A (p.Ala241=) c.720C>A (p.Ala240=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8587798G>A | CA412023813 | ANOS1 | c.722C>T (p.Ala241Val) c.719C>T (p.Ala240Val) | gnomAD v4 |
X | g.8587798G>C | CA412023814 | ANOS1 | c.722C>G (p.Ala241Gly) c.719C>G (p.Ala240Gly) | |
X | g.8587798G>T | CA412023816 | ANOS1 | c.722C>A (p.Ala241Asp) c.719C>A (p.Ala240Asp) | gnomAD v4 |
X | g.8587799C>A | CA412023818 | ANOS1 | c.721G>T (p.Ala241Ser) c.718G>T (p.Ala240Ser) | gnomAD v4 |
X | g.8587799C= | CA2414618787 | ANOS1 | c.721G= (p.Ala241=) c.718G= (p.Ala240=) | |
X | g.8587799C>G | CA412023819 | ANOS1 | c.721G>C (p.Ala241Pro) c.718G>C (p.Ala240Pro) | |
X | g.8587799C>T | CA10343764 | ANOS1 | c.721G>A (p.Ala241Thr) c.718G>A (p.Ala240Thr) | dbSNP ExAC gnomAD v2 |
X | g.8587800C>A | CA515171699 | ANOS1 | c.720G>T (p.Val240=) c.717G>T (p.Val239=) | gnomAD v4 |
X | g.8587800C>G | CA515171700 | ANOS1 | c.720G>C (p.Val240=) c.717G>C (p.Val239=) | |
X | g.8587800C>T | CA515171701 | ANOS1 | c.720G>A (p.Val240=) c.717G>A (p.Val239=) | |
X | g.8587801A= | CA2414618788 | ANOS1 | c.719T= (p.Val240=) c.716T= (p.Val239=) | |
X | g.8587801A>C | CA412023820 | ANOS1 | c.719T>G (p.Val240Gly) c.716T>G (p.Val239Gly) | dbSNP gnomAD v3 gnomAD v4 |
X | g.8587801A>G | CA412023821 | ANOS1 | c.719T>C (p.Val240Ala) c.716T>C (p.Val239Ala) | |
X | g.8587801A>T | CA412023822 | ANOS1 | c.719T>A (p.Val240Glu) c.716T>A (p.Val239Glu) | |
X | g.8587802C>A | CA412023823 | ANOS1 | c.718G>T (p.Val240Leu) c.715G>T (p.Val239Leu) | |
X | g.8587802C>G | CA412023824 | ANOS1 | c.718G>C (p.Val240Leu) c.715G>C (p.Val239Leu) | |
X | g.8587802C>T | CA412023825 | ANOS1 | c.718G>A (p.Val240Met) c.715G>A (p.Val239Met) | gnomAD v4 |
X | g.8587803T>A | CA515171702 | ANOS1 | c.717A>T (p.Thr239=) c.714A>T (p.Thr238=) | |
X | g.8587803T>C | CA515171703 | ANOS1 | c.717A>G (p.Thr239=) c.714A>G (p.Thr238=) | |
X | g.8587803T>G | CA515171704 | ANOS1 | c.717A>C (p.Thr239=) c.714A>C (p.Thr238=) | |
X | g.8587804G>A | CA412023827 | ANOS1 | c.716C>T (p.Thr239Ile) c.713C>T (p.Thr238Ile) | |
X | g.8587804G>C | CA412023828 | ANOS1 | c.716C>G (p.Thr239Arg) c.713C>G (p.Thr238Arg) | |
X | g.8587804G>T | CA412023826 | ANOS1 | c.716C>A (p.Thr239Lys) c.713C>A (p.Thr238Lys) | |
X | g.8587805T>A | CA412023829 | ANOS1 | c.715A>T (p.Thr239Ser) c.712A>T (p.Thr238Ser) | |
X | g.8587805T>C | CA412023830 | ANOS1 | c.715A>G (p.Thr239Ala) c.712A>G (p.Thr238Ala) | |
X | g.8587805T>G | CA412023831 | ANOS1 | c.715A>C (p.Thr239Pro) c.712A>C (p.Thr238Pro) | |
X | g.8587806_8587807del | CA2695231205 | ANOS1 | c.714_715del (p.Gln238HisfsTer14) c.711_712del (p.Gln237HisfsTer14) | |
X | g.8587806C>A | CA412023832 | ANOS1 | c.714G>T (p.Gln238His) c.711G>T (p.Gln237His) | gnomAD v4 |
X | g.8587806C>G | CA412023833 | ANOS1 | c.714G>C (p.Gln238His) c.711G>C (p.Gln237His) | |
X | g.8587806C>T | CA515171705 | ANOS1 | c.714G>A (p.Gln238=) c.711G>A (p.Gln237=) | |
X | g.8587807T>A | CA412023836 | ANOS1 | c.713A>T (p.Gln238Leu) c.710A>T (p.Gln237Leu) | |
X | g.8587807T>C | CA412023835 | ANOS1 | c.713A>G (p.Gln238Arg) c.710A>G (p.Gln237Arg) | gnomAD v4 |
X | g.8587807T>G | CA412023834 | ANOS1 | c.713A>C (p.Gln238Pro) c.710A>C (p.Gln237Pro) | |
X | g.8587808G>A | CA412023837 | ANOS1 | c.712C>T (p.Gln238Ter) c.709C>T (p.Gln237Ter) | |
X | g.8587808G>C | CA412023838 | ANOS1 | c.712C>G (p.Gln238Glu) c.709C>G (p.Gln237Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8587808G= | CA2414618789 | ANOS1 | c.712C= (p.Gln238=) c.709C= (p.Gln237=) | |
X | g.8587808G>T | CA412023839 | ANOS1 | c.712C>A (p.Gln238Lys) c.709C>A (p.Gln237Lys) | |
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) |