X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del
| ClinVar |
X | g.25013345G>A | CA412612731 | ARX | c.650C>T (p.Ala217Val)
| dbSNP gnomAD v4 |
X | g.25013345G>C | CA412612732 | ARX | c.650C>G (p.Ala217Gly)
| |
X | g.25013345G= | CA2420209223 | ARX | c.650C= (p.Ala217=)
| |
X | g.25013345G>T | CA412612733 | ARX | c.650C>A (p.Ala217Glu)
| gnomAD v4 |
X | g.25013346C>A | CA412612736 | ARX | c.649G>T (p.Ala217Ser)
| gnomAD v4 |
X | g.25013346C>G | CA412612735 | ARX | c.649G>C (p.Ala217Pro)
| |
X | g.25013346C>T | CA412612734 | ARX | c.649G>A (p.Ala217Thr)
| |
X | g.25013347A= | CA2420209224 | ARX | c.648T= (p.Ala216=)
| |
X | g.25013347A>C | CA515947900 | ARX | c.648T>G (p.Ala216=)
| |
X | g.25013347A>G | CA515947902 | ARX | c.648T>C (p.Ala216=)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013347A>T | CA515947905 | ARX | c.648T>A (p.Ala216=)
| gnomAD v4 |
X | g.25013348G>A | CA412612737 | ARX | c.647C>T (p.Ala216Val)
| gnomAD v4 |
X | g.25013348G>C | CA412612738 | ARX | c.647C>G (p.Ala216Gly)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013348G= | CA2420209225 | ARX | c.647C= (p.Ala216=)
| |
X | g.25013348G>T | CA412612739 | ARX | c.647C>A (p.Ala216Asp)
| gnomAD v4 |
X | g.25013352_25013380del | CA2695232864 | ARX | c.619_647del (p.Val207CysfsTer21)
| |
X | g.25013349C>A | CA412612740 | ARX | c.646G>T (p.Ala216Ser)
| gnomAD v4 |
X | g.25013349C>G | CA412612741 | ARX | c.646G>C (p.Ala216Pro)
| |
X | g.25013349C>T | CA412612742 | ARX | c.646G>A (p.Ala216Thr)
| |
X | g.25013354_25013365del | CA2573158498 | ARX | c.635_646del (p.Gly212_Pro215del)
| ClinVar dbSNP |
X | g.25013350C>A | CA515947917 | ARX | c.645G>T (p.Pro215=)
| gnomAD v3 gnomAD v4 |
X | g.25013350C>G | CA515947919 | ARX | c.645G>C (p.Pro215=)
| ClinVar |
X | g.25013350C>T | CA515947923 | ARX | c.645G>A (p.Pro215=)
| |
X | g.25013350_25013353del | CA2573158499 | ARX | c.642_645del (p.Pro215LeufsTer?)
| ClinVar dbSNP |
X | g.25013351G>A | CA412612743 | ARX | c.644C>T (p.Pro215Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013351G>C | CA412612744 | ARX | c.644C>G (p.Pro215Arg)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013351G= | CA2420209226 | ARX | c.644C= (p.Pro215=)
| |
X | g.25013351G>T | CA16608871 | ARX | c.644C>A (p.Pro215Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013354dup | CA2820100836 | ARX | c.644dup (p.Ala216GlyfsTer22)
| |
X | g.25013352G>A | CA412612745 | ARX | c.643C>T (p.Pro215Ser)
| gnomAD v4 |
X | g.25013352G>C | CA412612746 | ARX | c.643C>G (p.Pro215Ala)
| |
X | g.25013352G>T | CA412612747 | ARX | c.643C>A (p.Pro215Thr)
| |
X | g.25013352_25013381delinsGGGCGCTGCCCGGGCCGCCGGCCACGCCGA | CA2420209227 | ARX | c.614_643delinsTCGGCGTGGCCGGCGGCCCGGGCAGCGCCC (p.Leu205=)
| |
X | g.25013353G>A | CA515947931 | ARX | c.642C>T (p.Ala214=)
| |
X | g.25013353G>C | CA515947932 | ARX | c.642C>G (p.Ala214=)
| |
X | g.25013353G= | CA2420209228 | ARX | c.642C= (p.Ala214=)
| |
X | g.25013353G>T | CA327733051 | ARX | c.642C>A (p.Ala214=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013359_25013387del | CA10605871 | ARX | c.614_642del (p.Leu205ProfsTer23)
| ClinVar dbSNP |
X | g.25013354G>A | CA412612750 | ARX | c.641C>T (p.Ala214Val)
| dbSNP gnomAD v4 |
X | g.25013354G>C | CA412612748 | ARX | c.641C>G (p.Ala214Gly)
| dbSNP |
X | g.25013354G= | CA2420209229 | ARX | c.641C= (p.Ala214=)
| |
X | g.25013354G>T | CA412612749 | ARX | c.641C>A (p.Ala214Asp)
| ClinVar |
X | g.25013355C>A | CA412612751 | ARX | c.640G>T (p.Ala214Ser)
| |
X | g.25013355C>G | CA412612752 | ARX | c.640G>C (p.Ala214Pro)
| |
X | g.25013355C>T | CA412612753 | ARX | c.640G>A (p.Ala214Thr)
| gnomAD v4 |
X | g.25013356G>A | CA515947940 | ARX | c.639C>T (p.Ser213=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013356G>C | CA412612754 | ARX | c.639C>G (p.Ser213Arg)
| |
X | g.25013356G= | CA2420209230 | ARX | c.639C= (p.Ser213=)
| |
X | g.25013356G>T | CA412612755 | ARX | c.639C>A (p.Ser213Arg)
| gnomAD v4 |
X | g.25013357C>A | CA412612756 | ARX | c.638G>T (p.Ser213Ile)
| |
X | g.25013357C>G | CA412612757 | ARX | c.638G>C (p.Ser213Thr)
| |
X | g.25013357C>T | CA412612758 | ARX | c.638G>A (p.Ser213Asn)
| gnomAD v4 |
X | g.25013358T>A | CA412612759 | ARX | c.637A>T (p.Ser213Cys)
| |
X | g.25013358T>C | CA412612760 | ARX | c.637A>G (p.Ser213Gly)
| dbSNP |
X | g.25013358T>G | CA412612761 | ARX | c.637A>C (p.Ser213Arg)
| |
X | g.25013358T= | CA2420209231 | ARX | c.637A= (p.Ser213=)
| |
X | g.25013359G>A | CA515947948 | ARX | c.636C>T (p.Gly212=)
| ClinVar |
X | g.25013359G>C | CA515947956 | ARX | c.636C>G (p.Gly212=)
| |
X | g.25013359G>T | CA515947951 | ARX | c.636C>A (p.Gly212=)
| gnomAD v4 |
X | g.25013360_25013371dup | CA641364631 | ARX | c.625_636dup (p.Gly212_Ser213insGlyGlyProGly)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013360C>A | CA412612764 | ARX | c.635G>T (p.Gly212Val)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013360C= | CA2420209232 | ARX | c.635G= (p.Gly212=)
| |
X | g.25013360C>G | CA412612763 | ARX | c.635G>C (p.Gly212Ala)
| |
X | g.25013360C>T | CA412612762 | ARX | c.635G>A (p.Gly212Asp)
| gnomAD v4 |
X | g.25013361C>A | CA412612765 | ARX | c.634G>T (p.Gly212Cys)
| |
X | g.25013361C>G | CA412612767 | ARX | c.634G>C (p.Gly212Arg)
| |
X | g.25013361C>T | CA412612766 | ARX | c.634G>A (p.Gly212Ser)
| |
X | g.25013362C>A | CA515947969 | ARX | c.633G>T (p.Pro211=)
| gnomAD v4 |
X | g.25013362C= | CA2420209233 | ARX | c.633G= (p.Pro211=)
| |
X | g.25013362C>G | CA515947972 | ARX | c.633G>C (p.Pro211=)
| |
X | g.25013362C>T | CA10373890 | ARX | c.633G>A (p.Pro211=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013363G>A | CA16608826 | ARX | c.632C>T (p.Pro211Leu)
| ClinVar dbSNP gnomAD v4 |
X | g.25013363G>C | CA412612768 | ARX | c.632C>G (p.Pro211Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25013363G= | CA2420209234 | ARX | c.632C= (p.Pro211=)
| |
X | g.25013363G>T | CA412612769 | ARX | c.632C>A (p.Pro211Gln)
| gnomAD v4 |
X | g.25013364G>A | CA412612770 | ARX | c.631C>T (p.Pro211Ser)
| |
X | g.25013364G>C | CA412612771 | ARX | c.631C>G (p.Pro211Ala)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013364G= | CA2420209235 | ARX | c.631C= (p.Pro211=)
| |
X | g.25013364G>T | CA412612772 | ARX | c.631C>A (p.Pro211Thr)
| gnomAD v4 |
X | g.25013365G>A | CA515947983 | ARX | c.630C>T (p.Gly210=)
| gnomAD v4 |
X | g.25013365G>C | CA515947985 | ARX | c.630C>G (p.Gly210=)
| |
X | g.25013365G>T | CA515947986 | ARX | c.630C>A (p.Gly210=)
| gnomAD v4 |
X | g.25013366C>A | CA412612773 | ARX | c.629G>T (p.Gly210Val)
| ClinVar dbSNP |
X | g.25013366C= | CA2420209236 | ARX | c.629G= (p.Gly210=)
| |
X | g.25013366C>G | CA10373891 | ARX | c.629G>C (p.Gly210Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013366C>T | CA412612774 | ARX | c.629G>A (p.Gly210Asp)
| gnomAD v4 |
X | g.25013367C>A | CA412612775 | ARX | c.628G>T (p.Gly210Cys)
| gnomAD v4 |
X | g.25013367C>G | CA412612776 | ARX | c.628G>C (p.Gly210Arg)
| gnomAD v4 |
X | g.25013367C>T | CA412612777 | ARX | c.628G>A (p.Gly210Ser)
| ClinVar gnomAD v4 |
X | g.25013368G>A | CA515947996 | ARX | c.627C>T (p.Gly209=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25013368G>C | CA515947998 | ARX | c.627C>G (p.Gly209=)
| |
X | g.25013368G= | CA2420209237 | ARX | c.627C= (p.Gly209=)
| |
X | g.25013368G>T | CA515947999 | ARX | c.627C>A (p.Gly209=)
| gnomAD v4 |
X | g.25013369C>A | CA412612780 | ARX | c.626G>T (p.Gly209Val)
| |
X | g.25013369C>G | CA412612779 | ARX | c.626G>C (p.Gly209Ala)
| |
X | g.25013369C>T | CA412612778 | ARX | c.626G>A (p.Gly209Asp)
| gnomAD v4 |
X | g.25013370C>A | CA412612781 | ARX | c.625G>T (p.Gly209Cys)
| gnomAD v4 |
X | g.25013370C= | CA2420209238 | ARX | c.625G= (p.Gly209=)
| |
X | g.25013370C>G | CA171158 | ARX | c.625G>C (p.Gly209Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013370C>T | CA412612782 | ARX | c.625G>A (p.Gly209Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013371G>A | CA515948010 | ARX | c.624C>T (p.Ala208=)
| gnomAD v4 |
X | g.25013371G>C | CA515948018 | ARX | c.624C>G (p.Ala208=)
| |
X | g.25013371G>T | CA515948013 | ARX | c.624C>A (p.Ala208=)
| |
X | g.25013372G>A | CA412612783 | ARX | c.623C>T (p.Ala208Val)
| ClinVar dbSNP |
X | g.25013372G>C | CA412612784 | ARX | c.623C>G (p.Ala208Gly)
| |
X | g.25013372G>T | CA412612785 | ARX | c.623C>A (p.Ala208Asp)
| gnomAD v4 |
X | g.25013373C>A | CA412612786 | ARX | c.622G>T (p.Ala208Ser)
| |
X | g.25013373C>G | CA412612787 | ARX | c.622G>C (p.Ala208Pro)
| |
X | g.25013373C>T | CA412612788 | ARX | c.622G>A (p.Ala208Thr)
| gnomAD v4 |
X | g.25013374C>A | CA515948028 | ARX | c.621G>T (p.Val207=)
| |
X | g.25013374C= | CA2420209239 | ARX | c.621G= (p.Val207=)
| |
X | g.25013374C>G | CA515948030 | ARX | c.621G>C (p.Val207=)
| |
X | g.25013374C>T | CA515948032 | ARX | c.621G>A (p.Val207=)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013375A>C | CA412612789 | ARX | c.620T>G (p.Val207Gly)
| |
X | g.25013375A>G | CA412612790 | ARX | c.620T>C (p.Val207Ala)
| ClinVar |
X | g.25013375A>T | CA412612791 | ARX | c.620T>A (p.Val207Glu)
| |
X | g.25013376C>A | CA412612794 | ARX | c.619G>T (p.Val207Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25013376C= | CA2420209240 | ARX | c.619G= (p.Val207=)
| |
X | g.25013376C>G | CA412612793 | ARX | c.619G>C (p.Val207Leu)
| dbSNP |
X | g.25013376C>T | CA412612792 | ARX | c.619G>A (p.Val207Met)
| gnomAD v4 |
X | g.25013377G>A | CA515948037 | ARX | c.618C>T (p.Gly206=)
| ClinVar gnomAD v4 |
X | g.25013377G>C | CA515948046 | ARX | c.618C>G (p.Gly206=)
| |
X | g.25013377G>T | CA515948048 | ARX | c.618C>A (p.Gly206=)
| |
X | g.25013377_25013378delinsGC | CA2420209241 | ARX | c.617_618delinsGC (p.Gly206=)
| |
X | g.25013378C>A | CA412612795 | ARX | c.617G>T (p.Gly206Val)
| gnomAD v4 |
X | g.25013378C>G | CA412612796 | ARX | c.617G>C (p.Gly206Ala)
| |
X | g.25013378C>T | CA412612797 | ARX | c.617G>A (p.Gly206Asp)
| |
X | g.25013379del | CA213237 | ARX | c.617del (p.Gly206AlafsTer?)
| ClinVar dbSNP |
X | g.25013379C>A | CA412612798 | ARX | c.616G>T (p.Gly206Cys)
| |
X | g.25013379C>G | CA412612799 | ARX | c.616G>C (p.Gly206Arg)
| gnomAD v4 |
X | g.25013379C>T | CA412612800 | ARX | c.616G>A (p.Gly206Ser)
| |
X | g.25013380G>A | CA515948057 | ARX | c.615C>T (p.Leu205=)
| ClinVar gnomAD v4 |
X | g.25013380G>C | CA515948058 | ARX | c.615C>G (p.Leu205=)
| |
X | g.25013380G>T | CA515948056 | ARX | c.615C>A (p.Leu205=)
| |
X | g.25013381A>C | CA412612801 | ARX | c.614T>G (p.Leu205Arg)
| |
X | g.25013381A>G | CA412612802 | ARX | c.614T>C (p.Leu205Pro)
| |
X | g.25013381A>T | CA412612803 | ARX | c.614T>A (p.Leu205His)
| |
X | g.25013382G>A | CA207632 | ARX | c.613C>T (p.Leu205Phe)
| ClinVar dbSNP gnomAD v4 |
X | g.25013382G>C | CA412612804 | ARX | c.613C>G (p.Leu205Val)
| |
X | g.25013382G= | CA2420209242 | ARX | c.613C= (p.Leu205=)
| |
X | g.25013382G>T | CA412612805 | ARX | c.613C>A (p.Leu205Ile)
| |
X | g.25013383G>A | CA515948069 | ARX | c.612C>T (p.Arg204=)
| |
X | g.25013383G>C | CA515948070 | ARX | c.612C>G (p.Arg204=)
| |
X | g.25013383G>T | CA515948071 | ARX | c.612C>A (p.Arg204=)
| gnomAD v4 |
X | g.25013384C>A | CA412612806 | ARX | c.611G>T (p.Arg204Leu)
| ClinVar dbSNP gnomAD v4 |
X | g.25013384C= | CA2420209243 | ARX | c.611G= (p.Arg204=)
| |
X | g.25013384C>G | CA412612807 | ARX | c.611G>C (p.Arg204Pro)
| ClinVar gnomAD v4 |
X | g.25013384C>T | CA10373892 | ARX | c.611G>A (p.Arg204His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013385G>A | CA412612808 | ARX | c.610C>T (p.Arg204Cys)
| ClinVar gnomAD v4 |
X | g.25013385G>C | CA412612809 | ARX | c.610C>G (p.Arg204Gly)
| gnomAD v4 |
X | g.25013385G= | CA2420209244 | ARX | c.610C= (p.Arg204=)
| |
X | g.25013385G>T | CA10373893 | ARX | c.610C>A (p.Arg204Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013386C>A | CA412612810 | ARX | c.609G>T (p.Glu203Asp)
| gnomAD v4 |
X | g.25013386C>G | CA412612811 | ARX | c.609G>C (p.Glu203Asp)
| |
X | g.25013386C>T | CA515948086 | ARX | c.609G>A (p.Glu203=)
| |
X | g.25013387T>A | CA412612812 | ARX | c.608A>T (p.Glu203Val)
| |
X | g.25013387T>C | CA412612813 | ARX | c.608A>G (p.Glu203Gly)
| gnomAD v4 |
X | g.25013387T>G | CA412612814 | ARX | c.608A>C (p.Glu203Ala)
| |
X | g.25013388C>A | CA412612815 | ARX | c.607G>T (p.Glu203Ter)
| gnomAD v4 |
X | g.25013388C>G | CA412612816 | ARX | c.607G>C (p.Glu203Gln)
| |
X | g.25013388C>T | CA412612817 | ARX | c.607G>A (p.Glu203Lys)
| gnomAD v4 |
X | g.25013389C>A | CA412612819 | ARX | c.606G>T (p.Glu202Asp)
| gnomAD v4 |
X | g.25013389C>G | CA412612818 | ARX | c.606G>C (p.Glu202Asp)
| ClinVar |
X | g.25013389C>T | CA515948103 | ARX | c.606G>A (p.Glu202=)
| |
X | g.25013390T>A | CA412612820 | ARX | c.605A>T (p.Glu202Val)
| |
X | g.25013390T>C | CA412612821 | ARX | c.605A>G (p.Glu202Gly)
| |
X | g.25013390T>G | CA412612822 | ARX | c.605A>C (p.Glu202Ala)
| |
X | g.25013391C>A | CA412612823 | ARX | c.604G>T (p.Glu202Ter)
| |
X | g.25013391C>G | CA412612824 | ARX | c.604G>C (p.Glu202Gln)
| |
X | g.25013391C>T | CA412612825 | ARX | c.604G>A (p.Glu202Lys)
| |
X | g.25013392C>A | CA515948113 | ARX | c.603G>T (p.Pro201=)
| gnomAD v4 |
X | g.25013392C= | CA2420209245 | ARX | c.603G= (p.Pro201=)
| |
X | g.25013392C>G | CA515948114 | ARX | c.603G>C (p.Pro201=)
| |
X | g.25013392C>T | CA515948117 | ARX | c.603G>A (p.Pro201=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25013393G>A | CA412612828 | ARX | c.602C>T (p.Pro201Leu)
| dbSNP |
X | g.25013393G>C | CA412612827 | ARX | c.602C>G (p.Pro201Arg)
| |
X | g.25013393G= | CA2420209246 | ARX | c.602C= (p.Pro201=)
| |
X | g.25013393G>T | CA412612826 | ARX | c.602C>A (p.Pro201Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25013394G>A | CA412612829 | ARX | c.601C>T (p.Pro201Ser)
| |
X | g.25013394G>C | CA412612830 | ARX | c.601C>G (p.Pro201Ala)
| |
X | g.25013394G= | CA2420209247 | ARX | c.601C= (p.Pro201=)
| |
X | g.25013394G>T | CA412612831 | ARX | c.601C>A (p.Pro201Thr)
| dbSNP |
X | g.25013395G>A | CA224133 | ARX | c.600C>T (p.His200=)
| dbSNP gnomAD v4 |
X | g.25013395G>C | CA412612832 | ARX | c.600C>G (p.His200Gln)
| |
X | g.25013395G= | CA2420209248 | ARX | c.600C= (p.His200=)
| |
X | g.25013395G>T | CA412612833 | ARX | c.600C>A (p.His200Gln)
| |
X | g.25013396T>A | CA412612836 | ARX | c.599A>T (p.His200Leu)
| |
X | g.25013396T>C | CA412612834 | ARX | c.599A>G (p.His200Arg)
| |
X | g.25013396T>G | CA412612835 | ARX | c.599A>C (p.His200Pro)
| |
X | g.25013397G>A | CA412612837 | ARX | c.598C>T (p.His200Tyr)
| |
X | g.25013397G>C | CA412612838 | ARX | c.598C>G (p.His200Asp)
| |
X | g.25013397G>T | CA412612839 | ARX | c.598C>A (p.His200Asn)
| gnomAD v4 |
X | g.25013398C>A | CA515948134 | ARX | c.597G>T (p.Thr199=)
| ClinVar gnomAD v4 |
X | g.25013398C= | CA2420209249 | ARX | c.597G= (p.Thr199=)
| |
X | g.25013398C>G | CA515948132 | ARX | c.597G>C (p.Thr199=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013398C>T | CA224131 | ARX | c.597G>A (p.Thr199=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013399G>A | CA412612840 | ARX | c.596C>T (p.Thr199Met)
| gnomAD v4 |
X | g.25013399G>C | CA412612841 | ARX | c.596C>G (p.Thr199Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013399G= | CA2420209250 | ARX | c.596C= (p.Thr199=)
| |
X | g.25013399G>T | CA412612842 | ARX | c.596C>A (p.Thr199Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013400T>A | CA412612843 | ARX | c.595A>T (p.Thr199Ser)
| |
X | g.25013400T>C | CA412612844 | ARX | c.595A>G (p.Thr199Ala)
| ClinVar |
X | g.25013400T>G | CA412612845 | ARX | c.595A>C (p.Thr199Pro)
| |
X | g.25013401del | CA2738477725 | ARX | c.594del (p.Thr199ArgfsTer?)
| dbSNP |
X | g.25013401G>A | CA515948142 | ARX | c.594C>T (p.Val198=)
| ClinVar gnomAD v4 |
X | g.25013401G>C | CA515948141 | ARX | c.594C>G (p.Val198=)
| ClinVar |
X | g.25013401G>T | CA515948140 | ARX | c.594C>A (p.Val198=)
| gnomAD v4 |
X | g.25013402A= | CA2420209251 | ARX | c.593T= (p.Val198=)
| |
X | g.25013402A>C | CA412612846 | ARX | c.593T>G (p.Val198Gly)
| |
X | g.25013402A>G | CA224129 | ARX | c.593T>C (p.Val198Ala)
| ClinVar dbSNP gnomAD v4 |
X | g.25013402A>T | CA412612847 | ARX | c.593T>A (p.Val198Asp)
| |
X | g.25013403C>A | CA412612848 | ARX | c.592G>T (p.Val198Phe)
| dbSNP gnomAD v4 |
X | g.25013403C= | CA2420209252 | ARX | c.592G= (p.Val198=)
| |
X | g.25013403C>G | CA412612849 | ARX | c.592G>C (p.Val198Leu)
| |
X | g.25013403C>T | CA327733052 | ARX | c.592G>A (p.Val198Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013404G>A | CA515948147 | ARX | c.591C>T (p.Gly197=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013404G>C | CA515948148 | ARX | c.591C>G (p.Gly197=)
| |
X | g.25013404G= | CA2420209253 | ARX | c.591C= (p.Gly197=)
| |
X | g.25013404G>T | CA515948149 | ARX | c.591C>A (p.Gly197=)
| |
X | g.25013405C>A | CA412612850 | ARX | c.590G>T (p.Gly197Val)
| dbSNP |
X | g.25013405C= | CA2420209254 | ARX | c.590G= (p.Gly197=)
| |
X | g.25013405C>G | CA412612851 | ARX | c.590G>C (p.Gly197Ala)
| |
X | g.25013405C>T | CA224127 | ARX | c.590G>A (p.Gly197Asp)
| ClinVar dbSNP gnomAD v4 |
X | g.25013410dup | CA2508779922 | ARX | c.590dup (p.Val198ArgfsTer?)
| ClinVar gnomAD v4 |
X | g.25013410del | CA645618123 | ARX | c.590del (p.Gly197AlafsTer?)
| gnomAD v4 COSMIC |
X | g.25013406C>A | CA412612852 | ARX | c.589G>T (p.Gly197Cys)
| gnomAD v4 |
X | g.25013406C= | CA2420209255 | ARX | c.589G= (p.Gly197=)
| |
X | g.25013406C>G | CA412612853 | ARX | c.589G>C (p.Gly197Arg)
| |
X | g.25013406C>T | CA412612854 | ARX | c.589G>A (p.Gly197Ser)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013407C>A | CA515948151 | ARX | c.588G>T (p.Gly196=)
| |
X | g.25013407C>G | CA515948153 | ARX | c.588G>C (p.Gly196=)
| |
X | g.25013407C>T | CA515948155 | ARX | c.588G>A (p.Gly196=)
| gnomAD v4 |
X | g.25013408C>A | CA412612855 | ARX | c.587G>T (p.Gly196Val)
| gnomAD v4 |
X | g.25013408C= | CA2420209256 | ARX | c.587G= (p.Gly196=)
| |
X | g.25013408C>G | CA412612856 | ARX | c.587G>C (p.Gly196Ala)
| dbSNP |
X | g.25013408C>T | CA412612857 | ARX | c.587G>A (p.Gly196Glu)
| |
X | g.25013409C>A | CA412612858 | ARX | c.586G>T (p.Gly196Trp)
| gnomAD v3 gnomAD v4 |
X | g.25013409C= | CA2420209257 | ARX | c.586G= (p.Gly196=)
| |
X | g.25013409C>G | CA412612859 | ARX | c.586G>C (p.Gly196Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013409C>T | CA412612860 | ARX | c.586G>A (p.Gly196Arg)
| dbSNP |
X | g.25013410C>A | CA515948158 | ARX | c.585G>T (p.Pro195=)
| gnomAD v4 |
X | g.25013410C>G | CA515948159 | ARX | c.585G>C (p.Pro195=)
| ClinVar |
X | g.25013410C>T | CA515948160 | ARX | c.585G>A (p.Pro195=)
| gnomAD v4 |
X | g.25013411G>A | CA412612863 | ARX | c.584C>T (p.Pro195Leu)
| gnomAD v4 |
X | g.25013411G>C | CA412612862 | ARX | c.584C>G (p.Pro195Arg)
| |
X | g.25013411G>T | CA412612861 | ARX | c.584C>A (p.Pro195Gln)
| gnomAD v4 |
X | g.25013412G>A | CA412612864 | ARX | c.583C>T (p.Pro195Ser)
| |
X | g.25013412G>C | CA412612865 | ARX | c.583C>G (p.Pro195Ala)
| |
X | g.25013412G>T | CA412612866 | ARX | c.583C>A (p.Pro195Thr)
| |
X | g.25013413G>A | CA515948167 | ARX | c.582C>T (p.Gly194=)
| gnomAD v4 |
X | g.25013413G>C | CA515948169 | ARX | c.582C>G (p.Gly194=)
| |
X | g.25013413G>T | CA515948171 | ARX | c.582C>A (p.Gly194=)
| gnomAD v4 |
X | g.25013414C>A | CA412612867 | ARX | c.581G>T (p.Gly194Val)
| gnomAD v4 |
X | g.25013414C>G | CA412612868 | ARX | c.581G>C (p.Gly194Ala)
| |
X | g.25013414C>T | CA412612869 | ARX | c.581G>A (p.Gly194Asp)
| gnomAD v4 |
X | g.25013415C>A | CA412612870 | ARX | c.580G>T (p.Gly194Cys)
| gnomAD v4 |
X | g.25013415C>G | CA412612871 | ARX | c.580G>C (p.Gly194Arg)
| |
X | g.25013415C>T | CA412612872 | ARX | c.580G>A (p.Gly194Ser)
| gnomAD v4 |
X | g.25013416G>A | CA515948182 | ARX | c.579C>T (p.Gly193=)
| ClinVar gnomAD v4 |
X | g.25013416G>C | CA515948184 | ARX | c.579C>G (p.Gly193=)
| |
X | g.25013416G>T | CA515948185 | ARX | c.579C>A (p.Gly193=)
| gnomAD v4 |
X | g.25013417C>A | CA412612873 | ARX | c.578G>T (p.Gly193Val)
| gnomAD v4 |
X | g.25013417C>G | CA412612874 | ARX | c.578G>C (p.Gly193Ala)
| ClinVar dbSNP gnomAD v4 |
X | g.25013417C>T | CA412612875 | ARX | c.578G>A (p.Gly193Asp)
| gnomAD v4 |
X | g.25013418C>A | CA412612876 | ARX | c.577G>T (p.Gly193Cys)
| gnomAD v4 |
X | g.25013418C>G | CA412612878 | ARX | c.577G>C (p.Gly193Arg)
| |
X | g.25013418C>T | CA412612877 | ARX | c.577G>A (p.Gly193Ser)
| |
X | g.25013419C>A | CA515948190 | ARX | c.576G>T (p.Leu192=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013419C= | CA2420209258 | ARX | c.576G= (p.Leu192=)
| |
X | g.25013419C>G | CA515948192 | ARX | c.576G>C (p.Leu192=)
| |
X | g.25013419C>T | CA515948193 | ARX | c.576G>A (p.Leu192=)
| gnomAD v4 |
X | g.25013420A>C | CA412612879 | ARX | c.575T>G (p.Leu192Arg)
| |
X | g.25013420A>G | CA412612881 | ARX | c.575T>C (p.Leu192Pro)
| gnomAD v4 |
X | g.25013420A>T | CA412612880 | ARX | c.575T>A (p.Leu192Gln)
| |
X | g.25013420_25013421del | CA2532249379 | ARX | c.574_575del (p.Leu192GlyfsTer?)
| |
X | g.25013421G>A | CA515948198 | ARX | c.574C>T (p.Leu192=)
| gnomAD v4 |
X | g.25013421G>C | CA412612882 | ARX | c.574C>G (p.Leu192Val)
| gnomAD v4 |
X | g.25013421G>T | CA412612883 | ARX | c.574C>A (p.Leu192Met)
| gnomAD v4 |
X | g.25013422C>A | CA412612884 | ARX | c.573G>T (p.Glu191Asp)
| gnomAD v4 |
X | g.25013422C>G | CA412612885 | ARX | c.573G>C (p.Glu191Asp)
| |
X | g.25013422C>T | CA515948201 | ARX | c.573G>A (p.Glu191=)
| gnomAD v4 |
X | g.25013423T>A | CA412612886 | ARX | c.572A>T (p.Glu191Val)
| |
X | g.25013423T>C | CA412612888 | ARX | c.572A>G (p.Glu191Gly)
| gnomAD v4 |
X | g.25013423T>G | CA412612887 | ARX | c.572A>C (p.Glu191Ala)
| |
X | g.25013424C>A | CA412612889 | ARX | c.571G>T (p.Glu191Ter)
| dbSNP gnomAD v4 |
X | g.25013424C>G | CA412612891 | ARX | c.571G>C (p.Glu191Gln)
| |
X | g.25013424C>T | CA412612890 | ARX | c.571G>A (p.Glu191Lys)
| gnomAD v4 |
X | g.25013425G>A | CA515948209 | ARX | c.570C>T (p.Asp190=)
| gnomAD v4 |
X | g.25013425G>C | CA412612892 | ARX | c.570C>G (p.Asp190Glu)
| gnomAD v4 |
X | g.25013425G>T | CA412612893 | ARX | c.570C>A (p.Asp190Glu)
| gnomAD v4 |
X | g.25013426T>A | CA412612894 | ARX | c.569A>T (p.Asp190Val)
| |
X | g.25013426T>C | CA412612896 | ARX | c.569A>G (p.Asp190Gly)
| gnomAD v4 |
X | g.25013426T>G | CA412612895 | ARX | c.569A>C (p.Asp190Ala)
| dbSNP |
X | g.25013426T= | CA2420209259 | ARX | c.569A= (p.Asp190=)
| |
X | g.25013427C>A | CA412612897 | ARX | c.568G>T (p.Asp190Tyr)
| gnomAD v4 |
X | g.25013427C>G | CA412612899 | ARX | c.568G>C (p.Asp190His)
| |
X | g.25013427C>T | CA412612898 | ARX | c.568G>A (p.Asp190Asn)
| gnomAD v4 |
X | g.25013428C>A | CA515948215 | ARX | c.567G>T (p.Leu189=)
| gnomAD v4 |
X | g.25013428C>G | CA515948217 | ARX | c.567G>C (p.Leu189=)
| gnomAD v4 |
X | g.25013428C>T | CA515948219 | ARX | c.567G>A (p.Leu189=)
| gnomAD v4 |
X | g.25013429A= | CA2420209260 | ARX | c.566T= (p.Leu189=)
| |
X | g.25013429A>C | CA412612900 | ARX | c.566T>G (p.Leu189Arg)
| |
X | g.25013429A>G | CA412612902 | ARX | c.566T>C (p.Leu189Pro)
| dbSNP gnomAD v4 |
X | g.25013429A>T | CA412612901 | ARX | c.566T>A (p.Leu189Gln)
| gnomAD v4 |
X | g.25013430G>A | CA515948223 | ARX | c.565C>T (p.Leu189=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013430G>C | CA412612903 | ARX | c.565C>G (p.Leu189Val)
| |
X | g.25013430G= | CA2420209261 | ARX | c.565C= (p.Leu189=)
| |
X | g.25013430G>T | CA412612904 | ARX | c.565C>A (p.Leu189Met)
| gnomAD v4 |
X | g.25013431C>A | CA515948224 | ARX | c.564G>T (p.Ala188=)
| gnomAD v4 |
X | g.25013431C= | CA2420209262 | ARX | c.564G= (p.Ala188=)
| |
X | g.25013431C>G | CA515948226 | ARX | c.564G>C (p.Ala188=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013431C>T | CA515948229 | ARX | c.564G>A (p.Ala188=)
| gnomAD v4 |
X | g.25013432G>A | CA412612905 | ARX | c.563C>T (p.Ala188Val)
| gnomAD v4 |
X | g.25013432G>C | CA412612906 | ARX | c.563C>G (p.Ala188Gly)
| ClinVar dbSNP |
X | g.25013432G= | CA2420209264 | ARX | c.563C= (p.Ala188=)
| |
X | g.25013432G>T | CA412612907 | ARX | c.563C>A (p.Ala188Glu)
| dbSNP gnomAD v4 |
X | g.25013432_25013433delinsGC | CA2420209263 | ARX | c.562_563delinsGC (p.Ala188=)
| |
X | g.25013432_25013433delinsTA | CA213324 | ARX | c.562_563delinsTA (p.Ala188Ter)
| ClinVar dbSNP |
X | g.25013433del | CA2693353698 | ARX | c.562del (p.Ala188ArgfsTer?)
| gnomAD v4 |
X | g.25013433C>A | CA412612908 | ARX | c.562G>T (p.Ala188Ser)
| gnomAD v4 |
X | g.25013433C>G | CA412612909 | ARX | c.562G>C (p.Ala188Pro)
| |
X | g.25013433C>T | CA412612910 | ARX | c.562G>A (p.Ala188Thr)
| gnomAD v4 |
X | g.25013434G>A | CA515948234 | ARX | c.561C>T (p.Pro187=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013434G>C | CA515948235 | ARX | c.561C>G (p.Pro187=)
| ClinVar gnomAD v4 |
X | g.25013434G= | CA2420209266 | ARX | c.561C= (p.Pro187=)
| |
X | g.25013434G>T | CA515948238 | ARX | c.561C>A (p.Pro187=)
| gnomAD v4 |
X | g.25013434_25013436del | CA2820100838 | ARX | c.559_561del (p.Pro187del)
| |
X | g.25013436del | CA2693353699 | ARX | c.561del (p.Ala188ArgfsTer?)
| gnomAD v4 |
X | g.25013434_25013437delinsGGGC | CA2420209265 | ARX | c.558_561delinsGCCC (p.Pro186=)
| |
X | g.25013435G>A | CA412612911 | ARX | c.560C>T (p.Pro187Leu)
| gnomAD v4 |
X | g.25013435G>C | CA412612912 | ARX | c.560C>G (p.Pro187Arg)
| |
X | g.25013435G>T | CA412612913 | ARX | c.560C>A (p.Pro187His)
| gnomAD v4 |
X | g.25013444_25013446dup | CA641364633 | ARX | c.558_560dup (p.Pro187_Ala188insPro)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013444_25013446del | CA641364632 | ARX | c.558_560del (p.Pro187del)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013436G>A | CA412612916 | ARX | c.559C>T (p.Pro187Ser)
| gnomAD v4 |
X | g.25013436G>C | CA412612914 | ARX | c.559C>G (p.Pro187Ala)
| |
X | g.25013436G>T | CA412612915 | ARX | c.559C>A (p.Pro187Thr)
| gnomAD v4 |
X | g.25013437del | CA2693353700 | ARX | c.558del (p.Ala188ArgfsTer?)
| gnomAD v4 |
X | g.25013437C>A | CA10373894 | ARX | c.558G>T (p.Pro186=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013437C= | CA2420209267 | ARX | c.558G= (p.Pro186=)
| |
X | g.25013437C>G | CA515948247 | ARX | c.558G>C (p.Pro186=)
| gnomAD v4 |
X | g.25013437C>T | CA515948244 | ARX | c.558G>A (p.Pro186=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013438G>A | CA412612917 | ARX | c.557C>T (p.Pro186Leu)
| gnomAD v4 |
X | g.25013438G>C | CA412612918 | ARX | c.557C>G (p.Pro186Arg)
| |
X | g.25013438G= | CA2420209268 | ARX | c.557C= (p.Pro186=)
| |
X | g.25013438G>T | CA16609171 | ARX | c.557C>A (p.Pro186Gln)
| ClinVar dbSNP gnomAD v4 |
X | g.25013439dup | CA2740097963 | ARX | c.557dup (p.Pro187AlafsTer?)
| |
X | g.25013439G>A | CA412612919 | ARX | c.556C>T (p.Pro186Ser)
| gnomAD v4 |
X | g.25013439G>C | CA412612920 | ARX | c.556C>G (p.Pro186Ala)
| gnomAD v4 |
X | g.25013439G>T | CA412612921 | ARX | c.556C>A (p.Pro186Thr)
| gnomAD v4 |
X | g.25013440del | CA2693353701 | ARX | c.555del (p.Pro186ArgfsTer?)
| gnomAD v4 |
X | g.25013440C>A | CA515948253 | ARX | c.555G>T (p.Pro185=)
| gnomAD v4 |
X | g.25013440C= | CA2420209269 | ARX | c.555G= (p.Pro185=)
| |
X | g.25013440C>G | CA515948251 | ARX | c.555G>C (p.Pro185=)
| gnomAD v4 |
X | g.25013440C>T | CA515948252 | ARX | c.555G>A (p.Pro185=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013441G>A | CA412612922 | ARX | c.554C>T (p.Pro185Leu)
| gnomAD v4 |
X | g.25013441G>C | CA412612923 | ARX | c.554C>G (p.Pro185Arg)
| gnomAD v4 |
X | g.25013441G= | CA2420209270 | ARX | c.554C= (p.Pro185=)
| |
X | g.25013441G>T | CA327733053 | ARX | c.554C>A (p.Pro185Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013442G>A | CA412612926 | ARX | c.553C>T (p.Pro185Ser)
| ClinVar dbSNP gnomAD v4 |
X | g.25013442G>C | CA412612925 | ARX | c.553C>G (p.Pro185Ala)
| gnomAD v4 |
X | g.25013442G= | CA2420209271 | ARX | c.553C= (p.Pro185=)
| |
X | g.25013442G>T | CA412612924 | ARX | c.553C>A (p.Pro185Thr)
| gnomAD v4 |
X | g.25013447_25013547del | CA2820100839 | ARX | c.453_553del (p.Ala154ArgfsTer?)
| |
X | g.25013443C>A | CA515948259 | ARX | c.552G>T (p.Pro184=)
| gnomAD v4 |
X | g.25013443C>G | CA515948260 | ARX | c.552G>C (p.Pro184=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013443C>T | CA515948258 | ARX | c.552G>A (p.Pro184=)
| ClinVar gnomAD v4 COSMIC |
X | g.25013444G>A | CA412612927 | ARX | c.551C>T (p.Pro184Leu)
| gnomAD v3 gnomAD v4 |
X | g.25013444G>C | CA412612928 | ARX | c.551C>G (p.Pro184Arg)
| ClinVar dbSNP gnomAD v4 |
X | g.25013444G= | CA2420209272 | ARX | c.551C= (p.Pro184=)
| |
X | g.25013444G>T | CA412612929 | ARX | c.551C>A (p.Pro184Gln)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013445G>A | CA412612930 | ARX | c.550C>T (p.Pro184Ser)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013445G>C | CA412612931 | ARX | c.550C>G (p.Pro184Ala)
| ClinVar gnomAD v4 |
X | g.25013445G= | CA2420209273 | ARX | c.550C= (p.Pro184=)
| |
X | g.25013445G>T | CA412612932 | ARX | c.550C>A (p.Pro184Thr)
| gnomAD v4 |