Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.1047796G>ACA337851246AGRNc.3652G>A (p.Asp1218Asn)
c.3337G>A (p.Asp1113Asn)
n.390G>A
n.234G>A
c.3238G>A (p.Asp1080Asn)
c.2779G>A (p.Asp927Asn)
c.1918G>A (p.Asp640Asn)
n.3719G>A
n.3723G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1047796G>CCA337851247AGRNc.3652G>C (p.Asp1218His)
c.3337G>C (p.Asp1113His)
n.390G>C
n.234G>C
c.3238G>C (p.Asp1080His)
c.2779G>C (p.Asp927His)
c.1918G>C (p.Asp640His)
n.3719G>C
n.3723G>C
 dbSNP gnomAD v2
1g.1047796G=CA1148801507AGRNc.3652G= (p.Asp1218=)
c.3337G= (p.Asp1113=)
n.390G=
n.234G=
c.3238G= (p.Asp1080=)
c.2779G= (p.Asp927=)
c.1918G= (p.Asp640=)
n.3719G=
n.3723G=
1g.1047796G>TCA337851248AGRNc.3652G>T (p.Asp1218Tyr)
c.3337G>T (p.Asp1113Tyr)
n.390G>T
n.234G>T
c.3238G>T (p.Asp1080Tyr)
c.2779G>T (p.Asp927Tyr)
c.1918G>T (p.Asp640Tyr)
n.3719G>T
n.3723G>T
1g.1047797A>CCA337851249AGRNc.3653A>C (p.Asp1218Ala)
c.3338A>C (p.Asp1113Ala)
n.391A>C
n.235A>C
c.3239A>C (p.Asp1080Ala)
c.2780A>C (p.Asp927Ala)
c.1919A>C (p.Asp640Ala)
n.3720A>C
n.3724A>C
1g.1047797A>GCA337851250AGRNc.3653A>G (p.Asp1218Gly)
c.3338A>G (p.Asp1113Gly)
n.391A>G
n.235A>G
c.3239A>G (p.Asp1080Gly)
c.2780A>G (p.Asp927Gly)
c.1919A>G (p.Asp640Gly)
n.3720A>G
n.3724A>G
1g.1047797A>TCA337851251AGRNc.3653A>T (p.Asp1218Val)
c.3338A>T (p.Asp1113Val)
n.391A>T
n.235A>T
c.3239A>T (p.Asp1080Val)
c.2780A>T (p.Asp927Val)
c.1919A>T (p.Asp640Val)
n.3720A>T
n.3724A>T
1g.1047798C>ACA337851252AGRNc.3654C>A (p.Asp1218Glu)
c.3339C>A (p.Asp1113Glu)
n.392C>A
n.236C>A
c.3240C>A (p.Asp1080Glu)
c.2781C>A (p.Asp927Glu)
c.1920C>A (p.Asp640Glu)
n.3721C>A
n.3725C>A
1g.1047798C=CA1148289674AGRNc.3654C= (p.Asp1218=)
c.3339C= (p.Asp1113=)
n.392C=
n.236C=
c.3240C= (p.Asp1080=)
c.2781C= (p.Asp927=)
c.1920C= (p.Asp640=)
n.3721C=
n.3725C=
1g.1047798C>GCA337851253AGRNc.3654C>G (p.Asp1218Glu)
c.3339C>G (p.Asp1113Glu)
n.392C>G
n.236C>G
c.3240C>G (p.Asp1080Glu)
c.2781C>G (p.Asp927Glu)
c.1920C>G (p.Asp640Glu)
n.3721C>G
n.3725C>G
1g.1047798C>TCA509176AGRNc.3654C>T (p.Asp1218=)
c.3339C>T (p.Asp1113=)
n.392C>T
n.236C>T
c.3240C>T (p.Asp1080=)
c.2781C>T (p.Asp927=)
c.1920C>T (p.Asp640=)
n.3721C>T
n.3725C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1047799G>ACA509177AGRNc.3655G>A (p.Val1219Met)
c.3340G>A (p.Val1114Met)
n.393G>A
n.237G>A
c.3241G>A (p.Val1081Met)
c.2782G>A (p.Val928Met)
c.1921G>A (p.Val641Met)
n.3722G>A
n.3726G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1047799G>CCA337851255AGRNc.3655G>C (p.Val1219Leu)
c.3340G>C (p.Val1114Leu)
n.393G>C
n.237G>C
c.3241G>C (p.Val1081Leu)
c.2782G>C (p.Val928Leu)
c.1921G>C (p.Val641Leu)
n.3722G>C
n.3726G>C
1g.1047799G=CA1148801528AGRNc.3655G= (p.Val1219=)
c.3340G= (p.Val1114=)
n.393G=
n.237G=
c.3241G= (p.Val1081=)
c.2782G= (p.Val928=)
c.1921G= (p.Val641=)
n.3722G=
n.3726G=
1g.1047799G>TCA337851256AGRNc.3655G>T (p.Val1219Leu)
c.3340G>T (p.Val1114Leu)
n.393G>T
n.237G>T
c.3241G>T (p.Val1081Leu)
c.2782G>T (p.Val928Leu)
c.1921G>T (p.Val641Leu)
n.3722G>T
n.3726G>T
1g.1047800T>ACA337851267AGRNc.3656T>A (p.Val1219Glu)
c.3341T>A (p.Val1114Glu)
n.394T>A
n.238T>A
c.3242T>A (p.Val1081Glu)
c.2783T>A (p.Val928Glu)
c.1922T>A (p.Val641Glu)
n.3723T>A
n.3727T>A
1g.1047800T>CCA337851264AGRNc.3656T>C (p.Val1219Ala)
c.3341T>C (p.Val1114Ala)
n.394T>C
n.238T>C
c.3242T>C (p.Val1081Ala)
c.2783T>C (p.Val928Ala)
c.1922T>C (p.Val641Ala)
n.3723T>C
n.3727T>C
1g.1047800T>GCA337851260AGRNc.3656T>G (p.Val1219Gly)
c.3341T>G (p.Val1114Gly)
n.394T>G
n.238T>G
c.3242T>G (p.Val1081Gly)
c.2783T>G (p.Val928Gly)
c.1922T>G (p.Val641Gly)
n.3723T>G
n.3727T>G
1g.1047801G>ACA415758049AGRNc.3657G>A (p.Val1219=)
c.3342G>A (p.Val1114=)
n.395G>A
n.239G>A
c.3243G>A (p.Val1081=)
c.2784G>A (p.Val928=)
c.1923G>A (p.Val641=)
n.3724G>A
n.3728G>A
 dbSNP gnomAD v4
1g.1047801G>CCA415758048AGRNc.3657G>C (p.Val1219=)
c.3342G>C (p.Val1114=)
n.395G>C
n.239G>C
c.3243G>C (p.Val1081=)
c.2784G>C (p.Val928=)
c.1923G>C (p.Val641=)
n.3724G>C
n.3728G>C
1g.1047801G=CA1148801574AGRNc.3657G= (p.Val1219=)
c.3342G= (p.Val1114=)
n.395G=
n.239G=
c.3243G= (p.Val1081=)
c.2784G= (p.Val928=)
c.1923G= (p.Val641=)
n.3724G=
n.3728G=
1g.1047801G>TCA415758047AGRNc.3657G>T (p.Val1219=)
c.3342G>T (p.Val1114=)
n.395G>T
n.239G>T
c.3243G>T (p.Val1081=)
c.2784G>T (p.Val928=)
c.1923G>T (p.Val641=)
n.3724G>T
n.3728G>T
 gnomAD v4
1g.1047802G>ACA337851270AGRNc.3658G>A (p.Ala1220Thr)
c.3343G>A (p.Ala1115Thr)
n.396G>A
n.240G>A
c.3244G>A (p.Ala1082Thr)
c.2785G>A (p.Ala929Thr)
c.1924G>A (p.Ala642Thr)
n.3725G>A
n.3729G>A
1g.1047802G>CCA337851271AGRNc.3658G>C (p.Ala1220Pro)
c.3343G>C (p.Ala1115Pro)
n.396G>C
n.240G>C
c.3244G>C (p.Ala1082Pro)
c.2785G>C (p.Ala929Pro)
c.1924G>C (p.Ala642Pro)
n.3725G>C
n.3729G>C
 gnomAD v4
1g.1047802G>TCA337851273AGRNc.3658G>T (p.Ala1220Ser)
c.3343G>T (p.Ala1115Ser)
n.396G>T
n.240G>T
c.3244G>T (p.Ala1082Ser)
c.2785G>T (p.Ala929Ser)
c.1924G>T (p.Ala642Ser)
n.3725G>T
n.3729G>T
1g.1047803C>ACA337851275AGRNc.3659C>A (p.Ala1220Asp)
c.3344C>A (p.Ala1115Asp)
n.397C>A
n.241C>A
c.3245C>A (p.Ala1082Asp)
c.2786C>A (p.Ala929Asp)
c.1925C>A (p.Ala642Asp)
n.3726C>A
n.3730C>A
1g.1047803C=CA1148801583AGRNc.3659C= (p.Ala1220=)
c.3344C= (p.Ala1115=)
n.397C=
n.241C=
c.3245C= (p.Ala1082=)
c.2786C= (p.Ala929=)
c.1925C= (p.Ala642=)
n.3726C=
n.3730C=
1g.1047803C>GCA509178AGRNc.3659C>G (p.Ala1220Gly)
c.3344C>G (p.Ala1115Gly)
n.397C>G
n.241C>G
c.3245C>G (p.Ala1082Gly)
c.2786C>G (p.Ala929Gly)
c.1925C>G (p.Ala642Gly)
n.3726C>G
n.3730C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1047803C>TCA337851278AGRNc.3659C>T (p.Ala1220Val)
c.3344C>T (p.Ala1115Val)
n.397C>T
n.241C>T
c.3245C>T (p.Ala1082Val)
c.2786C>T (p.Ala929Val)
c.1925C>T (p.Ala642Val)
n.3726C>T
n.3730C>T
1g.1047804C>ACA415758059AGRNc.3660C>A (p.Ala1220=)
c.3345C>A (p.Ala1115=)
n.398C>A
n.242C>A
c.3246C>A (p.Ala1082=)
c.2787C>A (p.Ala929=)
c.1926C>A (p.Ala642=)
n.3727C>A
n.3731C>A
 gnomAD v4
1g.1047804C>GCA415758060AGRNc.3660C>G (p.Ala1220=)
c.3345C>G (p.Ala1115=)
n.398C>G
n.242C>G
c.3246C>G (p.Ala1082=)
c.2787C>G (p.Ala929=)
c.1926C>G (p.Ala642=)
n.3727C>G
n.3731C>G
1g.1047804C>TCA415758063AGRNc.3660C>T (p.Ala1220=)
c.3345C>T (p.Ala1115=)
n.398C>T
n.242C>T
c.3246C>T (p.Ala1082=)
c.2787C>T (p.Ala929=)
c.1926C>T (p.Ala642=)
n.3727C>T
n.3731C>T
1g.1047805C>ACA415758064AGRNc.3661C>A (p.Arg1221=)
c.3346C>A (p.Arg1116=)
n.399C>A
n.243C>A
c.3247C>A (p.Arg1083=)
c.2788C>A (p.Arg930=)
c.1927C>A (p.Arg643=)
n.3728C>A
n.3732C>A
1g.1047805C=CA1143987231AGRNc.3661C= (p.Arg1221=)
c.3346C= (p.Arg1116=)
n.399C=
n.243C=
c.3247C= (p.Arg1083=)
c.2788C= (p.Arg930=)
c.1927C= (p.Arg643=)
n.3728C=
n.3732C=
1g.1047805C>GCA337851280AGRNc.3661C>G (p.Arg1221Gly)
c.3346C>G (p.Arg1116Gly)
n.399C>G
n.243C>G
c.3247C>G (p.Arg1083Gly)
c.2788C>G (p.Arg930Gly)
c.1927C>G (p.Arg643Gly)
n.3728C>G
n.3732C>G
1g.1047805C>TCA509179AGRNc.3661C>T (p.Arg1221Trp)
c.3346C>T (p.Arg1116Trp)
n.399C>T
n.243C>T
c.3247C>T (p.Arg1083Trp)
c.2788C>T (p.Arg930Trp)
c.1927C>T (p.Arg643Trp)
n.3728C>T
n.3732C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1047806G>ACA509180AGRNc.3662G>A (p.Arg1221Gln)
c.3347G>A (p.Arg1116Gln)
n.400G>A
n.244G>A
c.3248G>A (p.Arg1083Gln)
c.2789G>A (p.Arg930Gln)
c.1928G>A (p.Arg643Gln)
n.3729G>A
n.3733G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1047806G>CCA337851284AGRNc.3662G>C (p.Arg1221Pro)
c.3347G>C (p.Arg1116Pro)
n.400G>C
n.244G>C
c.3248G>C (p.Arg1083Pro)
c.2789G>C (p.Arg930Pro)
c.1928G>C (p.Arg643Pro)
n.3729G>C
n.3733G>C
1g.1047806G=CA1148801596AGRNc.3662G= (p.Arg1221=)
c.3347G= (p.Arg1116=)
n.400G=
n.244G=
c.3248G= (p.Arg1083=)
c.2789G= (p.Arg930=)
c.1928G= (p.Arg643=)
n.3729G=
n.3733G=
1g.1047806G>TCA509181AGRNc.3662G>T (p.Arg1221Leu)
c.3347G>T (p.Arg1116Leu)
n.400G>T
n.244G>T
c.3248G>T (p.Arg1083Leu)
c.2789G>T (p.Arg930Leu)
c.1928G>T (p.Arg643Leu)
n.3729G>T
n.3733G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1047807G>ACA415758070AGRNc.3663G>A (p.Arg1221=)
c.3348G>A (p.Arg1116=)
n.401G>A
n.245G>A
c.3249G>A (p.Arg1083=)
c.2790G>A (p.Arg930=)
c.1929G>A (p.Arg643=)
n.3730G>A
n.3734G>A
 dbSNP
1g.1047807G>CCA415758071AGRNc.3663G>C (p.Arg1221=)
c.3348G>C (p.Arg1116=)
n.401G>C
n.245G>C
c.3249G>C (p.Arg1083=)
c.2790G>C (p.Arg930=)
c.1929G>C (p.Arg643=)
n.3730G>C
n.3734G>C
1g.1047807G=CA1148801600AGRNc.3663G= (p.Arg1221=)
c.3348G= (p.Arg1116=)
n.401G=
n.245G=
c.3249G= (p.Arg1083=)
c.2790G= (p.Arg930=)
c.1929G= (p.Arg643=)
n.3730G=
n.3734G=
1g.1047807G>TCA415758072AGRNc.3663G>T (p.Arg1221=)
c.3348G>T (p.Arg1116=)
n.401G>T
n.245G>T
c.3249G>T (p.Arg1083=)
c.2790G>T (p.Arg930=)
c.1929G>T (p.Arg643=)
n.3730G>T
n.3734G>T
 dbSNP gnomAD v2 gnomAD v4
1g.1047808G>ACA337851287AGRNc.3664G>A (p.Ala1222Thr)
c.3349G>A (p.Ala1117Thr)
n.402G>A
n.246G>A
c.3250G>A (p.Ala1084Thr)
c.2791G>A (p.Ala931Thr)
c.1930G>A (p.Ala644Thr)
n.3731G>A
n.3735G>A
1g.1047808G>CCA337851288AGRNc.3664G>C (p.Ala1222Pro)
c.3349G>C (p.Ala1117Pro)
n.402G>C
n.246G>C
c.3250G>C (p.Ala1084Pro)
c.2791G>C (p.Ala931Pro)
c.1930G>C (p.Ala644Pro)
n.3731G>C
n.3735G>C
1g.1047808G=CA1148801607AGRNc.3664G= (p.Ala1222=)
c.3349G= (p.Ala1117=)
n.402G=
n.246G=
c.3250G= (p.Ala1084=)
c.2791G= (p.Ala931=)
c.1930G= (p.Ala644=)
n.3731G=
n.3735G=
1g.1047808G>TCA337851290AGRNc.3664G>T (p.Ala1222Ser)
c.3349G>T (p.Ala1117Ser)
n.402G>T
n.246G>T
c.3250G>T (p.Ala1084Ser)
c.2791G>T (p.Ala931Ser)
c.1930G>T (p.Ala644Ser)
n.3731G>T
n.3735G>T
 dbSNP gnomAD v2 gnomAD v4
1g.1047809C>ACA337851293AGRNc.3665C>A (p.Ala1222Asp)
c.3350C>A (p.Ala1117Asp)
n.403C>A
n.247C>A
c.3251C>A (p.Ala1084Asp)
c.2792C>A (p.Ala931Asp)
c.1931C>A (p.Ala644Asp)
n.3732C>A
n.3736C>A
 gnomAD v4
1g.1047809C>GCA337851292AGRNc.3665C>G (p.Ala1222Gly)
c.3350C>G (p.Ala1117Gly)
n.403C>G
n.247C>G
c.3251C>G (p.Ala1084Gly)
c.2792C>G (p.Ala931Gly)
c.1931C>G (p.Ala644Gly)
n.3732C>G
n.3736C>G
1g.1047809C>TCA337851291AGRNc.3665C>T (p.Ala1222Val)
c.3350C>T (p.Ala1117Val)
n.403C>T
n.247C>T
c.3251C>T (p.Ala1084Val)
c.2792C>T (p.Ala931Val)
c.1931C>T (p.Ala644Val)
n.3732C>T
n.3736C>T
 gnomAD v4
1g.1047810C>ACA509182AGRNc.3666C>A (p.Ala1222=)
c.3351C>A (p.Ala1117=)
n.404C>A
n.248C>A
c.3252C>A (p.Ala1084=)
c.2793C>A (p.Ala931=)
c.1932C>A (p.Ala644=)
n.3733C>A
n.3737C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1047810C=CA1143583122AGRNc.3666C= (p.Ala1222=)
c.3351C= (p.Ala1117=)
n.404C=
n.248C=
c.3252C= (p.Ala1084=)
c.2793C= (p.Ala931=)
c.1932C= (p.Ala644=)
n.3733C=
n.3737C=
1g.1047810C>GCA415757835AGRNc.3666C>G (p.Ala1222=)
c.3351C>G (p.Ala1117=)
n.404C>G
n.248C>G
c.3252C>G (p.Ala1084=)
c.2793C>G (p.Ala931=)
c.1932C>G (p.Ala644=)
n.3733C>G
n.3737C>G
 gnomAD v4
1g.1047810C>TCA415757836AGRNc.3666C>T (p.Ala1222=)
c.3351C>T (p.Ala1117=)
n.404C>T
n.248C>T
c.3252C>T (p.Ala1084=)
c.2793C>T (p.Ala931=)
c.1932C>T (p.Ala644=)
n.3733C>T
n.3737C>T
1g.1047811C>ACA337851296AGRNc.3667C>A (p.Leu1223Met)
c.3352C>A (p.Leu1118Met)
n.405C>A
n.249C>A
c.3253C>A (p.Leu1085Met)
c.2794C>A (p.Leu932Met)
c.1933C>A (p.Leu645Met)
n.3734C>A
n.3738C>A
1g.1047811C=CA1148801670AGRNc.3667C= (p.Leu1223=)
c.3352C= (p.Leu1118=)
n.405C=
n.249C=
c.3253C= (p.Leu1085=)
c.2794C= (p.Leu932=)
c.1933C= (p.Leu645=)
n.3734C=
n.3738C=
1g.1047811C>GCA337851298AGRNc.3667C>G (p.Leu1223Val)
c.3352C>G (p.Leu1118Val)
n.405C>G
n.249C>G
c.3253C>G (p.Leu1085Val)
c.2794C>G (p.Leu932Val)
c.1933C>G (p.Leu645Val)
n.3734C>G
n.3738C>G
1g.1047811C>TCA415757839AGRNc.3667C>T (p.Leu1223=)
c.3352C>T (p.Leu1118=)
n.405C>T
n.249C>T
c.3253C>T (p.Leu1085=)
c.2794C>T (p.Leu932=)
c.1933C>T (p.Leu645=)
n.3734C>T
n.3738C>T
 dbSNP
1g.1047812T>ACA337851300AGRNc.3668T>A (p.Leu1223Gln)
c.3353T>A (p.Leu1118Gln)
n.406T>A
n.250T>A
c.3254T>A (p.Leu1085Gln)
c.2795T>A (p.Leu932Gln)
c.1934T>A (p.Leu645Gln)
n.3735T>A
n.3739T>A
1g.1047812T>CCA337851301AGRNc.3668T>C (p.Leu1223Pro)
c.3353T>C (p.Leu1118Pro)
n.406T>C
n.250T>C
c.3254T>C (p.Leu1085Pro)
c.2795T>C (p.Leu932Pro)
c.1934T>C (p.Leu645Pro)
n.3735T>C
n.3739T>C
1g.1047812T>GCA337851302AGRNc.3668T>G (p.Leu1223Arg)
c.3353T>G (p.Leu1118Arg)
n.406T>G
n.250T>G
c.3254T>G (p.Leu1085Arg)
c.2795T>G (p.Leu932Arg)
c.1934T>G (p.Leu645Arg)
n.3735T>G
n.3739T>G
1g.1047813G>ACA509183AGRNc.3669G>A (p.Leu1223=)
c.3354G>A (p.Leu1118=)
n.407G>A
n.251G>A
c.3255G>A (p.Leu1085=)
c.2796G>A (p.Leu932=)
c.1935G>A (p.Leu645=)
n.3736G>A
n.3740G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1047813G>CCA415757861AGRNc.3669G>C (p.Leu1223=)
c.3354G>C (p.Leu1118=)
n.407G>C
n.251G>C
c.3255G>C (p.Leu1085=)
c.2796G>C (p.Leu932=)
c.1935G>C (p.Leu645=)
n.3736G>C
n.3740G>C
1g.1047813G=CA1148801682AGRNc.3669G= (p.Leu1223=)
c.3354G= (p.Leu1118=)
n.407G=
n.251G=
c.3255G= (p.Leu1085=)
c.2796G= (p.Leu932=)
c.1935G= (p.Leu645=)
n.3736G=
n.3740G=
1g.1047813G>TCA415757864AGRNc.3669G>T (p.Leu1223=)
c.3354G>T (p.Leu1118=)
n.407G>T
n.251G>T
c.3255G>T (p.Leu1085=)
c.2796G>T (p.Leu932=)
c.1935G>T (p.Leu645=)
n.3736G>T
n.3740G>T
1g.1047814C>ACA337851304AGRNc.3670C>A (p.Leu1224Ile)
c.3355C>A (p.Leu1119Ile)
n.408C>A
n.252C>A
c.3256C>A (p.Leu1086Ile)
c.2797C>A (p.Leu933Ile)
c.1936C>A (p.Leu646Ile)
n.3737C>A
n.3741C>A
 gnomAD v4
1g.1047814C=CA1148801698AGRNc.3670C= (p.Leu1224=)
c.3355C= (p.Leu1119=)
n.408C=
n.252C=
c.3256C= (p.Leu1086=)
c.2797C= (p.Leu933=)
c.1936C= (p.Leu646=)
n.3737C=
n.3741C=
1g.1047814C>GCA337851303AGRNc.3670C>G (p.Leu1224Val)
c.3355C>G (p.Leu1119Val)
n.408C>G
n.252C>G
c.3256C>G (p.Leu1086Val)
c.2797C>G (p.Leu933Val)
c.1936C>G (p.Leu646Val)
n.3737C>G
n.3741C>G
 dbSNP gnomAD v2 gnomAD v4
1g.1047814C>TCA509184AGRNc.3670C>T (p.Leu1224Phe)
c.3355C>T (p.Leu1119Phe)
n.408C>T
n.252C>T
c.3256C>T (p.Leu1086Phe)
c.2797C>T (p.Leu933Phe)
c.1936C>T (p.Leu646Phe)
n.3737C>T
n.3741C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1047815T>ACA337851306AGRNc.3671T>A (p.Leu1224His)
c.3356T>A (p.Leu1119His)
n.409T>A
n.253T>A
c.3257T>A (p.Leu1086His)
c.2798T>A (p.Leu933His)
c.1937T>A (p.Leu646His)
n.3738T>A
n.3742T>A
1g.1047815T>CCA337851308AGRNc.3671T>C (p.Leu1224Pro)
c.3356T>C (p.Leu1119Pro)
n.409T>C
n.253T>C
c.3257T>C (p.Leu1086Pro)
c.2798T>C (p.Leu933Pro)
c.1937T>C (p.Leu646Pro)
n.3738T>C
n.3742T>C
1g.1047815T>GCA337851310AGRNc.3671T>G (p.Leu1224Arg)
c.3356T>G (p.Leu1119Arg)
n.409T>G
n.253T>G
c.3257T>G (p.Leu1086Arg)
c.2798T>G (p.Leu933Arg)
c.1937T>G (p.Leu646Arg)
n.3738T>G
n.3742T>G
1g.1047816C>ACA415757870AGRNc.3672C>A (p.Leu1224=)
c.3357C>A (p.Leu1119=)
n.410C>A
n.254C>A
c.3258C>A (p.Leu1086=)
c.2799C>A (p.Leu933=)
c.1938C>A (p.Leu646=)
n.3739C>A
n.3743C>A
1g.1047816C=CA1148801708AGRNc.3672C= (p.Leu1224=)
c.3357C= (p.Leu1119=)
n.410C=
n.254C=
c.3258C= (p.Leu1086=)
c.2799C= (p.Leu933=)
c.1938C= (p.Leu646=)
n.3739C=
n.3743C=
1g.1047816C>GCA415757874AGRNc.3672C>G (p.Leu1224=)
c.3357C>G (p.Leu1119=)
n.410C>G
n.254C>G
c.3258C>G (p.Leu1086=)
c.2799C>G (p.Leu933=)
c.1938C>G (p.Leu646=)
n.3739C>G
n.3743C>G
 dbSNP gnomAD v2 gnomAD v4
1g.1047816C>TCA415757875AGRNc.3672C>T (p.Leu1224=)
c.3357C>T (p.Leu1119=)
n.410C>T
n.254C>T
c.3258C>T (p.Leu1086=)
c.2799C>T (p.Leu933=)
c.1938C>T (p.Leu646=)
n.3739C>T
n.3743C>T
1g.1047817C>ACA415757878AGRNc.3673C>A (p.Arg1225=)
c.3358C>A (p.Arg1120=)
n.411C>A
n.255C>A
c.3259C>A (p.Arg1087=)
c.2800C>A (p.Arg934=)
c.1939C>A (p.Arg647=)
n.3740C>A
n.3744C>A
 gnomAD v4
1g.1047817C=CA1148801718AGRNc.3673C= (p.Arg1225=)
c.3358C= (p.Arg1120=)
n.411C=
n.255C=
c.3259C= (p.Arg1087=)
c.2800C= (p.Arg934=)
c.1939C= (p.Arg647=)
n.3740C=
n.3744C=
1g.1047817C>GCA337851312AGRNc.3673C>G (p.Arg1225Gly)
c.3358C>G (p.Arg1120Gly)
n.411C>G
n.255C>G
c.3259C>G (p.Arg1087Gly)
c.2800C>G (p.Arg934Gly)
c.1939C>G (p.Arg647Gly)
n.3740C>G
n.3744C>G
1g.1047817C>TCA509185AGRNc.3673C>T (p.Arg1225Trp)
c.3358C>T (p.Arg1120Trp)
n.411C>T
n.255C>T
c.3259C>T (p.Arg1087Trp)
c.2800C>T (p.Arg934Trp)
c.1939C>T (p.Arg647Trp)
n.3740C>T
n.3744C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1047817_1047818delinsCGCA1148801713AGRNc.3673_3674delinsCG (p.Arg1225=)
c.3358_3359delinsCG (p.Arg1120=)
n.411_412delinsCG
n.255_256delinsCG
c.3259_3260delinsCG (p.Arg1087=)
c.2800_2801delinsCG (p.Arg934=)
c.1939_1940delinsCG (p.Arg647=)
n.3740_3741delinsCG
n.3744_3745delinsCG
1g.1047818G>ACA337851315AGRNc.3674G>A (p.Arg1225Gln)
c.3359G>A (p.Arg1120Gln)
n.412G>A
n.256G>A
c.3260G>A (p.Arg1087Gln)
c.2801G>A (p.Arg934Gln)
c.1940G>A (p.Arg647Gln)
n.3741G>A
n.3745G>A
 dbSNP gnomAD v2 gnomAD v4
1g.1047818G>CCA337851320AGRNc.3674G>C (p.Arg1225Pro)
c.3359G>C (p.Arg1120Pro)
n.412G>C
n.256G>C
c.3260G>C (p.Arg1087Pro)
c.2801G>C (p.Arg934Pro)
c.1940G>C (p.Arg647Pro)
n.3741G>C
n.3745G>C
 dbSNP gnomAD v4
1g.1047818G=CA1148801747AGRNc.3674G= (p.Arg1225=)
c.3359G= (p.Arg1120=)
n.412G=
n.256G=
c.3260G= (p.Arg1087=)
c.2801G= (p.Arg934=)
c.1940G= (p.Arg647=)
n.3741G=
n.3745G=
1g.1047818G>TCA337851318AGRNc.3674G>T (p.Arg1225Leu)
c.3359G>T (p.Arg1120Leu)
n.412G>T
n.256G>T
c.3260G>T (p.Arg1087Leu)
c.2801G>T (p.Arg934Leu)
c.1940G>T (p.Arg647Leu)
n.3741G>T
n.3745G>T
 gnomAD v4
1g.1047818_1047819delinsGGCA1140572879AGRNc.3674_3675delinsGG (p.Arg1225=)
c.3359_3360delinsGG (p.Arg1120=)
n.412_413delinsGG
n.256_257delinsGG
c.3260_3261delinsGG (p.Arg1087=)
c.2801_2802delinsGG (p.Arg934=)
c.1940_1941delinsGG (p.Arg647=)
n.3741_3742delinsGG
n.3745_3746delinsGG
1g.1047819delCA16759844AGRNc.3675del (p.Gln1226ArgfsTer12)
c.3360del (p.Gln1121ArgfsTer12)
n.413del
n.257del
c.3261del (p.Gln1088ArgfsTer12)
c.2802del (p.Gln935ArgfsTer12)
c.1941del (p.Gln648ArgfsTer12)
n.3742del
n.3746del
 dbSNP
1g.1047819G>ACA415757883AGRNc.3675G>A (p.Arg1225=)
c.3360G>A (p.Arg1120=)
n.413G>A
n.257G>A
c.3261G>A (p.Arg1087=)
c.2802G>A (p.Arg934=)
c.1941G>A (p.Arg647=)
n.3742G>A
n.3746G>A
 gnomAD v4
1g.1047819G>CCA415757886AGRNc.3675G>C (p.Arg1225=)
c.3360G>C (p.Arg1120=)
n.413G>C
n.257G>C
c.3261G>C (p.Arg1087=)
c.2802G>C (p.Arg934=)
c.1941G>C (p.Arg647=)
n.3742G>C
n.3746G>C
 dbSNP gnomAD v2 gnomAD v4
1g.1047819G=CA1148801756AGRNc.3675G= (p.Arg1225=)
c.3360G= (p.Arg1120=)
n.413G=
n.257G=
c.3261G= (p.Arg1087=)
c.2802G= (p.Arg934=)
c.1941G= (p.Arg647=)
n.3742G=
n.3746G=
1g.1047819G>TCA415757888AGRNc.3675G>T (p.Arg1225=)
c.3360G>T (p.Arg1120=)
n.413G>T
n.257G>T
c.3261G>T (p.Arg1087=)
c.2802G>T (p.Arg934=)
c.1941G>T (p.Arg647=)
n.3742G>T
n.3746G>T
 gnomAD v4
1g.1047820C>ACA337851324AGRNc.3676C>A (p.Gln1226Lys)
c.3361C>A (p.Gln1121Lys)
n.414C>A
n.258C>A
c.3262C>A (p.Gln1088Lys)
c.2803C>A (p.Gln935Lys)
c.1942C>A (p.Gln648Lys)
n.3743C>A
n.3747C>A
1g.1047820C>GCA337851329AGRNc.3676C>G (p.Gln1226Glu)
c.3361C>G (p.Gln1121Glu)
n.414C>G
n.258C>G
c.3262C>G (p.Gln1088Glu)
c.2803C>G (p.Gln935Glu)
c.1942C>G (p.Gln648Glu)
n.3743C>G
n.3747C>G
1g.1047820C>TCA337851331AGRNc.3676C>T (p.Gln1226Ter)
c.3361C>T (p.Gln1121Ter)
n.414C>T
n.258C>T
c.3262C>T (p.Gln1088Ter)
c.2803C>T (p.Gln935Ter)
c.1942C>T (p.Gln648Ter)
n.3743C>T
n.3747C>T
1g.1047821A=CA1148801784AGRNc.3677A= (p.Gln1226=)
c.3362A= (p.Gln1121=)
n.415A=
n.259A=
c.3263A= (p.Gln1088=)
c.2804A= (p.Gln935=)
c.1943A= (p.Gln648=)
n.3744A=
n.3748A=
1g.1047821A>CCA337851334AGRNc.3677A>C (p.Gln1226Pro)
c.3362A>C (p.Gln1121Pro)
n.415A>C
n.259A>C
c.3263A>C (p.Gln1088Pro)
c.2804A>C (p.Gln935Pro)
c.1943A>C (p.Gln648Pro)
n.3744A>C
n.3748A>C
1g.1047821A>GCA337851337AGRNc.3677A>G (p.Gln1226Arg)
c.3362A>G (p.Gln1121Arg)
n.415A>G
n.259A>G
c.3263A>G (p.Gln1088Arg)
c.2804A>G (p.Gln935Arg)
c.1943A>G (p.Gln648Arg)
n.3744A>G
n.3748A>G
 dbSNP gnomAD v3 gnomAD v4
1g.1047821A>TCA337851342AGRNc.3677A>T (p.Gln1226Leu)
c.3362A>T (p.Gln1121Leu)
n.415A>T
n.259A>T
c.3263A>T (p.Gln1088Leu)
c.2804A>T (p.Gln935Leu)
c.1943A>T (p.Gln648Leu)
n.3744A>T
n.3748A>T
1g.1047822G>ACA16759847AGRNc.3678G>A (p.Gln1226=)
c.3363G>A (p.Gln1121=)
n.416G>A
n.260G>A
c.3264G>A (p.Gln1088=)
c.2805G>A (p.Gln935=)
c.1944G>A (p.Gln648=)
n.3745G>A
n.3749G>A
 dbSNP gnomAD v4
1g.1047822G>CCA337851345AGRNc.3678G>C (p.Gln1226His)
c.3363G>C (p.Gln1121His)
n.416G>C
n.260G>C
c.3264G>C (p.Gln1088His)
c.2805G>C (p.Gln935His)
c.1944G>C (p.Gln648His)
n.3745G>C
n.3749G>C
1g.1047822G=CA1148801824AGRNc.3678G= (p.Gln1226=)
c.3363G= (p.Gln1121=)
n.416G=
n.260G=
c.3264G= (p.Gln1088=)
c.2805G= (p.Gln935=)
c.1944G= (p.Gln648=)
n.3745G=
n.3749G=
1g.1047822G>TCA337851347AGRNc.3678G>T (p.Gln1226His)
c.3363G>T (p.Gln1121His)
n.416G>T
n.260G>T
c.3264G>T (p.Gln1088His)
c.2805G>T (p.Gln935His)
c.1944G>T (p.Gln648His)
n.3745G>T
n.3749G>T
1g.1047823A>CCA337851357AGRNc.3679A>C (p.Ile1227Leu)
c.3364A>C (p.Ile1122Leu)
n.417A>C
n.261A>C
c.3265A>C (p.Ile1089Leu)
c.2806A>C (p.Ile936Leu)
c.1945A>C (p.Ile649Leu)
n.3746A>C
n.3750A>C
1g.1047823A>GCA337851360AGRNc.3679A>G (p.Ile1227Val)
c.3364A>G (p.Ile1122Val)
n.417A>G
n.261A>G
c.3265A>G (p.Ile1089Val)
c.2806A>G (p.Ile936Val)
c.1945A>G (p.Ile649Val)
n.3746A>G
n.3750A>G
1g.1047823A>TCA337851362AGRNc.3679A>T (p.Ile1227Phe)
c.3364A>T (p.Ile1122Phe)
n.417A>T
n.261A>T
c.3265A>T (p.Ile1089Phe)
c.2806A>T (p.Ile936Phe)
c.1945A>T (p.Ile649Phe)
n.3746A>T
n.3750A>T
1g.1047824T>ACA337851364AGRNc.3680T>A (p.Ile1227Asn)
c.3365T>A (p.Ile1122Asn)
n.418T>A
n.262T>A
c.3266T>A (p.Ile1089Asn)
c.2807T>A (p.Ile936Asn)
c.1946T>A (p.Ile649Asn)
n.3747T>A
n.3751T>A
1g.1047824T>CCA337851369AGRNc.3680T>C (p.Ile1227Thr)
c.3365T>C (p.Ile1122Thr)
n.418T>C
n.262T>C
c.3266T>C (p.Ile1089Thr)
c.2807T>C (p.Ile936Thr)
c.1946T>C (p.Ile649Thr)
n.3747T>C
n.3751T>C
1g.1047824T>GCA337851366AGRNc.3680T>G (p.Ile1227Ser)
c.3365T>G (p.Ile1122Ser)
n.418T>G
n.262T>G
c.3266T>G (p.Ile1089Ser)
c.2807T>G (p.Ile936Ser)
c.1946T>G (p.Ile649Ser)
n.3747T>G
n.3751T>G
1g.1047824T=CA1148801833AGRNc.3680T= (p.Ile1227=)
c.3365T= (p.Ile1122=)
n.418T=
n.262T=
c.3266T= (p.Ile1089=)
c.2807T= (p.Ile936=)
c.1946T= (p.Ile649=)
n.3747T=
n.3751T=
1g.1047825C>ACA415757906AGRNc.3681C>A (p.Ile1227=)
c.3366C>A (p.Ile1122=)
n.419C>A
n.263C>A
c.3267C>A (p.Ile1089=)
c.2808C>A (p.Ile936=)
c.1947C>A (p.Ile649=)
n.3748C>A
n.3752C>A
 gnomAD v4
1g.1047825C=CA1146656663AGRNc.3681C= (p.Ile1227=)
c.3366C= (p.Ile1122=)
n.419C=
n.263C=
c.3267C= (p.Ile1089=)
c.2808C= (p.Ile936=)
c.1947C= (p.Ile649=)
n.3748C=
n.3752C=
1g.1047825C>GCA509186AGRNc.3681C>G (p.Ile1227Met)
c.3366C>G (p.Ile1122Met)
n.419C>G
n.263C>G
c.3267C>G (p.Ile1089Met)
c.2808C>G (p.Ile936Met)
c.1947C>G (p.Ile649Met)
n.3748C>G
n.3752C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1047825C>TCA415757909AGRNc.3681C>T (p.Ile1227=)
c.3366C>T (p.Ile1122=)
n.419C>T
n.263C>T
c.3267C>T (p.Ile1089=)
c.2808C>T (p.Ile936=)
c.1947C>T (p.Ile649=)
n.3748C>T
n.3752C>T
 gnomAD v4
1g.1047825_1047826delinsCCCA1140543122AGRNc.3681_3682delinsCC (p.Ile1227=)
c.3366_3367delinsCC (p.Ile1122=)
n.419_420delinsCC
n.263_264delinsCC
c.3267_3268delinsCC (p.Ile1089=)
c.2808_2809delinsCC (p.Ile936=)
c.1947_1948delinsCC (p.Ile649=)
n.3748_3749delinsCC
n.3752_3753delinsCC
1g.1047826dupCA16759852AGRNc.3682dup (p.Gln1228ProfsTer24)
c.3367dup (p.Gln1123ProfsTer24)
n.420dup
n.264dup
c.3268dup (p.Gln1090ProfsTer24)
c.2809dup (p.Gln937ProfsTer24)
c.1948dup (p.Gln650ProfsTer24)
n.3749dup
n.3753dup
 dbSNP
1g.1047826C>ACA337851376AGRNc.3682C>A (p.Gln1228Lys)
c.3367C>A (p.Gln1123Lys)
n.420C>A
n.264C>A
c.3268C>A (p.Gln1090Lys)
c.2809C>A (p.Gln937Lys)
c.1948C>A (p.Gln650Lys)
n.3749C>A
n.3753C>A
 gnomAD v4
1g.1047826C>GCA337851371AGRNc.3682C>G (p.Gln1228Glu)
c.3367C>G (p.Gln1123Glu)
n.420C>G
n.264C>G
c.3268C>G (p.Gln1090Glu)
c.2809C>G (p.Gln937Glu)
c.1948C>G (p.Gln650Glu)
n.3749C>G
n.3753C>G
1g.1047826C>TCA337851374AGRNc.3682C>T (p.Gln1228Ter)
c.3367C>T (p.Gln1123Ter)
n.420C>T
n.264C>T
c.3268C>T (p.Gln1090Ter)
c.2809C>T (p.Gln937Ter)
c.1948C>T (p.Gln650Ter)
n.3749C>T
n.3753C>T
 gnomAD v4
1g.1047827A=CA1148801940AGRNc.3683A= (p.Gln1228=)
c.3368A= (p.Gln1123=)
n.421A=
n.265A=
c.3269A= (p.Gln1090=)
c.2810A= (p.Gln937=)
c.1949A= (p.Gln650=)
n.3750A=
n.3754A=
1g.1047827A>CCA337851379AGRNc.3683A>C (p.Gln1228Pro)
c.3368A>C (p.Gln1123Pro)
n.421A>C
n.265A>C
c.3269A>C (p.Gln1090Pro)
c.2810A>C (p.Gln937Pro)
c.1949A>C (p.Gln650Pro)
n.3750A>C
n.3754A>C
1g.1047827A>GCA16759856AGRNc.3683A>G (p.Gln1228Arg)
c.3368A>G (p.Gln1123Arg)
n.421A>G
n.265A>G
c.3269A>G (p.Gln1090Arg)
c.2810A>G (p.Gln937Arg)
c.1949A>G (p.Gln650Arg)
n.3750A>G
n.3754A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1047827A>TCA337851387AGRNc.3683A>T (p.Gln1228Leu)
c.3368A>T (p.Gln1123Leu)
n.421A>T
n.265A>T
c.3269A>T (p.Gln1090Leu)
c.2810A>T (p.Gln937Leu)
c.1949A>T (p.Gln650Leu)
n.3750A>T
n.3754A>T
1g.1047828G>ACA415757921AGRNc.3684G>A (p.Gln1228=)
c.3369G>A (p.Gln1123=)
n.422G>A
n.266G>A
c.3270G>A (p.Gln1090=)
c.2811G>A (p.Gln937=)
c.1950G>A (p.Gln650=)
n.3751G>A
n.3755G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1047828G>CCA337851390AGRNc.3684G>C (p.Gln1228His)
c.3369G>C (p.Gln1123His)
n.422G>C
n.266G>C
c.3270G>C (p.Gln1090His)
c.2811G>C (p.Gln937His)
c.1950G>C (p.Gln650His)
n.3751G>C
n.3755G>C
1g.1047828G=CA1148801949AGRNc.3684G= (p.Gln1228=)
c.3369G= (p.Gln1123=)
n.422G=
n.266G=
c.3270G= (p.Gln1090=)
c.2811G= (p.Gln937=)
c.1950G= (p.Gln650=)
n.3751G=
n.3755G=
1g.1047828G>TCA337851397AGRNc.3684G>T (p.Gln1228His)
c.3369G>T (p.Gln1123His)
n.422G>T
n.266G>T
c.3270G>T (p.Gln1090His)
c.2811G>T (p.Gln937His)
c.1950G>T (p.Gln650His)
n.3751G>T
n.3755G>T
 gnomAD v4
1g.1047829G>ACA337851399AGRNc.3685G>A (p.Val1229Met)
c.3370G>A (p.Val1124Met)
n.423G>A
n.267G>A
c.3271G>A (p.Val1091Met)
c.2812G>A (p.Val938Met)
c.1951G>A (p.Val651Met)
n.3752G>A
n.3756G>A
 ClinVar dbSNP gnomAD v4
1g.1047829G>CCA509187AGRNc.3685G>C (p.Val1229Leu)
c.3370G>C (p.Val1124Leu)
n.423G>C
n.267G>C
c.3271G>C (p.Val1091Leu)
c.2812G>C (p.Val938Leu)
c.1951G>C (p.Val651Leu)
n.3752G>C
n.3756G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1047829G=CA1144301476AGRNc.3685G= (p.Val1229=)
c.3370G= (p.Val1124=)
n.423G=
n.267G=
c.3271G= (p.Val1091=)
c.2812G= (p.Val938=)
c.1951G= (p.Val651=)
n.3752G=
n.3756G=
1g.1047829G>TCA337851401AGRNc.3685G>T (p.Val1229Leu)
c.3370G>T (p.Val1124Leu)
n.423G>T
n.267G>T
c.3271G>T (p.Val1091Leu)
c.2812G>T (p.Val938Leu)
c.1951G>T (p.Val651Leu)
n.3752G>T
n.3756G>T
 dbSNP gnomAD v4 COSMIC
1g.1047830T>ACA337851403AGRNc.3686T>A (p.Val1229Glu)
c.3371T>A (p.Val1124Glu)
n.424T>A
n.268T>A
c.3272T>A (p.Val1091Glu)
c.2813T>A (p.Val938Glu)
c.1952T>A (p.Val651Glu)
n.3753T>A
n.3757T>A
1g.1047830T>CCA337851406AGRNc.3686T>C (p.Val1229Ala)
c.3371T>C (p.Val1124Ala)
n.424T>C
n.268T>C
c.3272T>C (p.Val1091Ala)
c.2813T>C (p.Val938Ala)
c.1952T>C (p.Val651Ala)
n.3753T>C
n.3757T>C
1g.1047830T>GCA16759870AGRNc.3686T>G (p.Val1229Gly)
c.3371T>G (p.Val1124Gly)
n.424T>G
n.268T>G
c.3272T>G (p.Val1091Gly)
c.2813T>G (p.Val938Gly)
c.1952T>G (p.Val651Gly)
n.3753T>G
n.3757T>G
 dbSNP
1g.1047830T=CA1148802028AGRNc.3686T= (p.Val1229=)
c.3371T= (p.Val1124=)
n.424T=
n.268T=
c.3272T= (p.Val1091=)
c.2813T= (p.Val938=)
c.1952T= (p.Val651=)
n.3753T=
n.3757T=
1g.1047831G>ACA415757933AGRNc.3687G>A (p.Val1229=)
c.3372G>A (p.Val1124=)
n.425G>A
n.269G>A
c.3273G>A (p.Val1091=)
c.2814G>A (p.Val938=)
c.1953G>A (p.Val651=)
n.3754G>A
n.3758G>A
 gnomAD v4
1g.1047831G>CCA415757932AGRNc.3687G>C (p.Val1229=)
c.3372G>C (p.Val1124=)
n.425G>C
n.269G>C
c.3273G>C (p.Val1091=)
c.2814G>C (p.Val938=)
c.1953G>C (p.Val651=)
n.3754G>C
n.3758G>C
1g.1047831G>TCA415757931AGRNc.3687G>T (p.Val1229=)
c.3372G>T (p.Val1124=)
n.425G>T
n.269G>T
c.3273G>T (p.Val1091=)
c.2814G>T (p.Val938=)
c.1953G>T (p.Val651=)
n.3754G>T
n.3758G>T
 gnomAD v4
1g.1047832T>ACA337851412AGRNc.3688T>A (p.Ser1230Thr)
c.3373T>A (p.Ser1125Thr)
n.426T>A
n.270T>A
c.3274T>A (p.Ser1092Thr)
c.2815T>A (p.Ser939Thr)
c.1954T>A (p.Ser652Thr)
n.3755T>A
n.3759T>A
1g.1047832T>CCA337851415AGRNc.3688T>C (p.Ser1230Pro)
c.3373T>C (p.Ser1125Pro)
n.426T>C
n.270T>C
c.3274T>C (p.Ser1092Pro)
c.2815T>C (p.Ser939Pro)
c.1954T>C (p.Ser652Pro)
n.3755T>C
n.3759T>C
1g.1047832T>GCA337851413AGRNc.3688T>G (p.Ser1230Ala)
c.3373T>G (p.Ser1125Ala)
n.426T>G
n.270T>G
c.3274T>G (p.Ser1092Ala)
c.2815T>G (p.Ser939Ala)
c.1954T>G (p.Ser652Ala)
n.3755T>G
n.3759T>G
1g.1047833C>ACA337851416AGRNc.3689C>A (p.Ser1230Tyr)
c.3374C>A (p.Ser1125Tyr)
n.427C>A
n.271C>A
c.3275C>A (p.Ser1092Tyr)
c.2816C>A (p.Ser939Tyr)
c.1955C>A (p.Ser652Tyr)
n.3756C>A
n.3760C>A
1g.1047833C=CA1148802034AGRNc.3689C= (p.Ser1230=)
c.3374C= (p.Ser1125=)
n.427C=
n.271C=
c.3275C= (p.Ser1092=)
c.2816C= (p.Ser939=)
c.1955C= (p.Ser652=)
n.3756C=
n.3760C=
1g.1047833C>GCA337851418AGRNc.3689C>G (p.Ser1230Cys)
c.3374C>G (p.Ser1125Cys)
n.427C>G
n.271C>G
c.3275C>G (p.Ser1092Cys)
c.2816C>G (p.Ser939Cys)
c.1955C>G (p.Ser652Cys)
n.3756C>G
n.3760C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1047833C>TCA509188AGRNc.3689C>T (p.Ser1230Phe)
c.3374C>T (p.Ser1125Phe)
n.427C>T
n.271C>T
c.3275C>T (p.Ser1092Phe)
c.2816C>T (p.Ser939Phe)
c.1955C>T (p.Ser652Phe)
n.3756C>T
n.3760C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1047834C>ACA415757946AGRNc.3690C>A (p.Ser1230=)
c.3375C>A (p.Ser1125=)
n.428C>A
n.272C>A
c.3276C>A (p.Ser1092=)
c.2817C>A (p.Ser939=)
c.1956C>A (p.Ser652=)
n.3757C>A
n.3761C>A
 gnomAD v4
1g.1047834C=CA1148802037AGRNc.3690C= (p.Ser1230=)
c.3375C= (p.Ser1125=)
n.428C=
n.272C=
c.3276C= (p.Ser1092=)
c.2817C= (p.Ser939=)
c.1956C= (p.Ser652=)
n.3757C=
n.3761C=
1g.1047834C>GCA415757948AGRNc.3690C>G (p.Ser1230=)
c.3375C>G (p.Ser1125=)
n.428C>G
n.272C>G
c.3276C>G (p.Ser1092=)
c.2817C>G (p.Ser939=)
c.1956C>G (p.Ser652=)
n.3757C>G
n.3761C>G
1g.1047834C>TCA415757949AGRNc.3690C>T (p.Ser1230=)
c.3375C>T (p.Ser1125=)
n.428C>T
n.272C>T
c.3276C>T (p.Ser1092=)
c.2817C>T (p.Ser939=)
c.1956C>T (p.Ser652=)
n.3757C>T
n.3761C>T
 dbSNP gnomAD v2 gnomAD v4
1g.1047835A>CCA415757952AGRNc.3691A>C (p.Arg1231=)
c.3376A>C (p.Arg1126=)
n.429A>C
n.273A>C
c.3277A>C (p.Arg1093=)
c.2818A>C (p.Arg940=)
c.1957A>C (p.Arg653=)
n.3758A>C
n.3762A>C
1g.1047835A>GCA337851420AGRNc.3691A>G (p.Arg1231Gly)
c.3376A>G (p.Arg1126Gly)
n.429A>G
n.273A>G
c.3277A>G (p.Arg1093Gly)
c.2818A>G (p.Arg940Gly)
c.1957A>G (p.Arg653Gly)
n.3758A>G
n.3762A>G
 gnomAD v4
1g.1047835A>TCA337851421AGRNc.3691A>T (p.Arg1231Trp)
c.3376A>T (p.Arg1126Trp)
n.429A>T
n.273A>T
c.3277A>T (p.Arg1093Trp)
c.2818A>T (p.Arg940Trp)
c.1957A>T (p.Arg653Trp)
n.3758A>T
n.3762A>T
1g.1047836G>ACA337851424AGRNc.3692G>A (p.Arg1231Lys)
c.3377G>A (p.Arg1126Lys)
n.430G>A
n.274G>A
c.3278G>A (p.Arg1093Lys)
c.2819G>A (p.Arg940Lys)
c.1958G>A (p.Arg653Lys)
n.3759G>A
n.3763G>A
1g.1047836G>CCA337851431AGRNc.3692G>C (p.Arg1231Thr)
c.3377G>C (p.Arg1126Thr)
n.430G>C
n.274G>C
c.3278G>C (p.Arg1093Thr)
c.2819G>C (p.Arg940Thr)
c.1958G>C (p.Arg653Thr)
n.3759G>C
n.3763G>C
1g.1047836G>TCA337851432AGRNc.3692G>T (p.Arg1231Met)
c.3377G>T (p.Arg1126Met)
n.430G>T
n.274G>T
c.3278G>T (p.Arg1093Met)
c.2819G>T (p.Arg940Met)
c.1958G>T (p.Arg653Met)
n.3759G>T
n.3763G>T
1g.1047837G>ACA415757956AGRNc.3693G>A (p.Arg1231=)
c.3378G>A (p.Arg1126=)
n.431G>A
n.275G>A
c.3279G>A (p.Arg1093=)
c.2820G>A (p.Arg940=)
c.1959G>A (p.Arg653=)
n.3760G>A
n.3764G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.1047837G>CCA337851436AGRNc.3693G>C (p.Arg1231Ser)
c.3378G>C (p.Arg1126Ser)
n.431G>C
n.275G>C
c.3279G>C (p.Arg1093Ser)
c.2820G>C (p.Arg940Ser)
c.1959G>C (p.Arg653Ser)
n.3760G>C
n.3764G>C
1g.1047837G=CA1148802047AGRNc.3693G= (p.Arg1231=)
c.3378G= (p.Arg1126=)
n.431G=
n.275G=
c.3279G= (p.Arg1093=)
c.2820G= (p.Arg940=)
c.1959G= (p.Arg653=)
n.3760G=
n.3764G=
1g.1047837G>TCA337851437AGRNc.3693G>T (p.Arg1231Ser)
c.3378G>T (p.Arg1126Ser)
n.431G>T
n.275G>T
c.3279G>T (p.Arg1093Ser)
c.2820G>T (p.Arg940Ser)
c.1959G>T (p.Arg653Ser)
n.3760G>T
n.3764G>T
1g.1047838C>ACA337851438AGRNc.3694C>A (p.Arg1232Ser)
c.3379C>A (p.Arg1127Ser)
n.432C>A
n.276C>A
c.3280C>A (p.Arg1094Ser)
c.2821C>A (p.Arg941Ser)
c.1960C>A (p.Arg654Ser)
n.3761C>A
n.3765C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1047838C=CA1148802054AGRNc.3694C= (p.Arg1232=)
c.3379C= (p.Arg1127=)
n.432C=
n.276C=
c.3280C= (p.Arg1094=)
c.2821C= (p.Arg941=)
c.1960C= (p.Arg654=)
n.3761C=
n.3765C=
1g.1047838C>GCA337851439AGRNc.3694C>G (p.Arg1232Gly)
c.3379C>G (p.Arg1127Gly)
n.432C>G
n.276C>G
c.3280C>G (p.Arg1094Gly)
c.2821C>G (p.Arg941Gly)
c.1960C>G (p.Arg654Gly)
n.3761C>G
n.3765C>G
1g.1047838C>TCA509189AGRNc.3694C>T (p.Arg1232Cys)
c.3379C>T (p.Arg1127Cys)
n.432C>T
n.276C>T
c.3280C>T (p.Arg1094Cys)
c.2821C>T (p.Arg941Cys)
c.1960C>T (p.Arg654Cys)
n.3761C>T
n.3765C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1047839G>ACA509190AGRNc.3695G>A (p.Arg1232His)
c.3380G>A (p.Arg1127His)
n.433G>A
c.3281G>A (p.Arg1094His)
c.2822G>A (p.Arg941His)
c.1961G>A (p.Arg654His)
n.3762G>A
n.3766G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1047839G>CCA337851448AGRNc.3695G>C (p.Arg1232Pro)
c.3380G>C (p.Arg1127Pro)
n.433G>C
c.3281G>C (p.Arg1094Pro)
c.2822G>C (p.Arg941Pro)
c.1961G>C (p.Arg654Pro)
n.3762G>C
n.3766G>C
1g.1047839G=CA1148347651AGRNc.3695G= (p.Arg1232=)
c.3380G= (p.Arg1127=)
n.433G=
c.3281G= (p.Arg1094=)
c.2822G= (p.Arg941=)
c.1961G= (p.Arg654=)
n.3762G=
n.3766G=
1g.1047839G>TCA509191AGRNc.3695G>T (p.Arg1232Leu)
c.3380G>T (p.Arg1127Leu)
n.433G>T
c.3281G>T (p.Arg1094Leu)
c.2822G>T (p.Arg941Leu)
c.1961G>T (p.Arg654Leu)
n.3762G>T
n.3766G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1047840C>ACA415757965AGRNc.3696C>A (p.Arg1232=)
c.3381C>A (p.Arg1127=)
n.434C>A
c.3282C>A (p.Arg1094=)
c.2823C>A (p.Arg941=)
c.1962C>A (p.Arg654=)
n.3763C>A
n.3767C>A
1g.1047840C>GCA415757966AGRNc.3696C>G (p.Arg1232=)
c.3381C>G (p.Arg1127=)
n.434C>G
c.3282C>G (p.Arg1094=)
c.2823C>G (p.Arg941=)
c.1962C>G (p.Arg654=)
n.3763C>G
n.3767C>G
1g.1047840C>TCA415757969AGRNc.3696C>T (p.Arg1232=)
c.3381C>T (p.Arg1127=)
n.434C>T
c.3282C>T (p.Arg1094=)
c.2823C>T (p.Arg941=)
c.1962C>T (p.Arg654=)
n.3763C>T
n.3767C>T
1g.1047841C>ACA415757974AGRNc.3697C>A (p.Arg1233=)
c.3382C>A (p.Arg1128=)
n.435C>A
c.3283C>A (p.Arg1095=)
c.2824C>A (p.Arg942=)
c.1963C>A (p.Arg655=)
n.3764C>A
n.3768C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1047841C=CA1142192045AGRNc.3697C= (p.Arg1233=)
c.3382C= (p.Arg1128=)
n.435C=
c.3283C= (p.Arg1095=)
c.2824C= (p.Arg942=)
c.1963C= (p.Arg655=)
n.3764C=
n.3768C=
1g.1047841C>GCA337851450AGRNc.3697C>G (p.Arg1233Gly)
c.3382C>G (p.Arg1128Gly)
n.435C>G
c.3283C>G (p.Arg1095Gly)
c.2824C>G (p.Arg942Gly)
c.1963C>G (p.Arg655Gly)
n.3764C>G
n.3768C>G
 dbSNP
1g.1047841C>TCA509192AGRNc.3697C>T (p.Arg1233Trp)
c.3382C>T (p.Arg1128Trp)
n.435C>T
c.3283C>T (p.Arg1095Trp)
c.2824C>T (p.Arg942Trp)
c.1963C>T (p.Arg655Trp)
n.3764C>T
n.3768C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1047842G>ACA509193AGRNc.3698G>A (p.Arg1233Gln)
c.3383G>A (p.Arg1128Gln)
n.436G>A
c.3284G>A (p.Arg1095Gln)
c.2825G>A (p.Arg942Gln)
c.1964G>A (p.Arg655Gln)
n.3765G>A
n.3769G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1047842G>CCA337851453AGRNc.3698G>C (p.Arg1233Pro)
c.3383G>C (p.Arg1128Pro)
n.436G>C
c.3284G>C (p.Arg1095Pro)
c.2825G>C (p.Arg942Pro)
c.1964G>C (p.Arg655Pro)
n.3765G>C
n.3769G>C
 dbSNP gnomAD v2 gnomAD v4
1g.1047842G=CA1148296628AGRNc.3698G= (p.Arg1233=)
c.3383G= (p.Arg1128=)
n.436G=
c.3284G= (p.Arg1095=)
c.2825G= (p.Arg942=)
c.1964G= (p.Arg655=)
n.3765G=
n.3769G=
1g.1047842G>TCA337851455AGRNc.3698G>T (p.Arg1233Leu)
c.3383G>T (p.Arg1128Leu)
n.436G>T
c.3284G>T (p.Arg1095Leu)
c.2825G>T (p.Arg942Leu)
c.1964G>T (p.Arg655Leu)
n.3765G>T
n.3769G>T
 gnomAD v4
1g.1047843G>ACA415757983AGRNc.3699G>A (p.Arg1233=)
c.3384G>A (p.Arg1128=)
n.437G>A
c.3285G>A (p.Arg1095=)
c.2826G>A (p.Arg942=)
c.1965G>A (p.Arg655=)
n.3766G>A
n.3770G>A
1g.1047843G>CCA415757985AGRNc.3699G>C (p.Arg1233=)
c.3384G>C (p.Arg1128=)
n.437G>C
c.3285G>C (p.Arg1095=)
c.2826G>C (p.Arg942=)
c.1965G>C (p.Arg655=)
n.3766G>C
n.3770G>C
1g.1047843G>TCA415757991AGRNc.3699G>T (p.Arg1233=)
c.3384G>T (p.Arg1128=)
n.437G>T
c.3285G>T (p.Arg1095=)
c.2826G>T (p.Arg942=)
c.1965G>T (p.Arg655=)
n.3766G>T
n.3770G>T
1g.1047844T>ACA337851459AGRNc.3700T>A (p.Ser1234Thr)
c.3385T>A (p.Ser1129Thr)
n.438T>A
c.3286T>A (p.Ser1096Thr)
c.2827T>A (p.Ser943Thr)
c.1966T>A (p.Ser656Thr)
n.3767T>A
n.3771T>A
1g.1047844T>CCA337851467AGRNc.3700T>C (p.Ser1234Pro)
c.3385T>C (p.Ser1129Pro)
n.438T>C
c.3286T>C (p.Ser1096Pro)
c.2827T>C (p.Ser943Pro)
c.1966T>C (p.Ser656Pro)
n.3767T>C
n.3771T>C
1g.1047844T>GCA337851468AGRNc.3700T>G (p.Ser1234Ala)
c.3385T>G (p.Ser1129Ala)
n.438T>G
c.3286T>G (p.Ser1096Ala)
c.2827T>G (p.Ser943Ala)
c.1966T>G (p.Ser656Ala)
n.3767T>G
n.3771T>G
1g.1047845C>ACA337851471AGRNc.3701C>A (p.Ser1234Tyr)
c.3386C>A (p.Ser1129Tyr)
n.439C>A
c.3287C>A (p.Ser1096Tyr)
c.2828C>A (p.Ser943Tyr)
c.1967C>A (p.Ser656Tyr)
n.3768C>A
n.3772C>A
1g.1047845C=CA1148802077AGRNc.3701C= (p.Ser1234=)
c.3386C= (p.Ser1129=)
n.439C=
c.3287C= (p.Ser1096=)
c.2828C= (p.Ser943=)
c.1967C= (p.Ser656=)
n.3768C=
n.3772C=
1g.1047845C>GCA337851479AGRNc.3701C>G (p.Ser1234Cys)
c.3386C>G (p.Ser1129Cys)
n.439C>G
c.3287C>G (p.Ser1096Cys)
c.2828C>G (p.Ser943Cys)
c.1967C>G (p.Ser656Cys)
n.3768C>G
n.3772C>G
1g.1047845C>TCA337851483AGRNc.3701C>T (p.Ser1234Phe)
c.3386C>T (p.Ser1129Phe)
n.439C>T
c.3287C>T (p.Ser1096Phe)
c.2828C>T (p.Ser943Phe)
c.1967C>T (p.Ser656Phe)
n.3768C>T
n.3772C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1047846C>ACA415758003AGRNc.3702C>A (p.Ser1234=)
c.3387C>A (p.Ser1129=)
n.440C>A
c.3288C>A (p.Ser1096=)
c.2829C>A (p.Ser943=)
c.1968C>A (p.Ser656=)
n.3769C>A
n.3773C>A
1g.1047846C=CA1148802102AGRNc.3702C= (p.Ser1234=)
c.3387C= (p.Ser1129=)
n.440C=
c.3288C= (p.Ser1096=)
c.2829C= (p.Ser943=)
c.1968C= (p.Ser656=)
n.3769C=
n.3773C=
1g.1047846C>GCA415757999AGRNc.3702C>G (p.Ser1234=)
c.3387C>G (p.Ser1129=)
n.440C>G
c.3288C>G (p.Ser1096=)
c.2829C>G (p.Ser943=)
c.1968C>G (p.Ser656=)
n.3769C>G
n.3773C>G
 gnomAD v4
1g.1047846C>TCA415758001AGRNc.3702C>T (p.Ser1234=)
c.3387C>T (p.Ser1129=)
n.440C>T
c.3288C>T (p.Ser1096=)
c.2829C>T (p.Ser943=)
c.1968C>T (p.Ser656=)
n.3769C>T
n.3773C>T
 dbSNP gnomAD v2 gnomAD v4
1g.1047847T>ACA337851491AGRNc.3703T>A (p.Leu1235Met)
c.3388T>A (p.Leu1130Met)
n.441T>A
c.3289T>A (p.Leu1097Met)
c.2830T>A (p.Leu944Met)
c.1969T>A (p.Leu657Met)
n.3770T>A
n.3774T>A
 gnomAD v4
1g.1047847T>CCA415758005AGRNc.3703T>C (p.Leu1235=)
c.3388T>C (p.Leu1130=)
n.441T>C
c.3289T>C (p.Leu1097=)
c.2830T>C (p.Leu944=)
c.1969T>C (p.Leu657=)
n.3770T>C
n.3774T>C
1g.1047847T>GCA337851493AGRNc.3703T>G (p.Leu1235Val)
c.3388T>G (p.Leu1130Val)
n.441T>G
c.3289T>G (p.Leu1097Val)
c.2830T>G (p.Leu944Val)
c.1969T>G (p.Leu657Val)
n.3770T>G
n.3774T>G
1g.1047848T>ACA337851497AGRNc.3704T>A (p.Leu1235Ter)
c.3389T>A (p.Leu1130Ter)
n.442T>A
c.3290T>A (p.Leu1097Ter)
c.2831T>A (p.Leu944Ter)
c.1970T>A (p.Leu657Ter)
n.3771T>A
n.3775T>A
1g.1047848T>CCA337851498AGRNc.3704T>C (p.Leu1235Ser)
c.3389T>C (p.Leu1130Ser)
n.442T>C
c.3290T>C (p.Leu1097Ser)
c.2831T>C (p.Leu944Ser)
c.1970T>C (p.Leu657Ser)
n.3771T>C
n.3775T>C
 dbSNP gnomAD v2 gnomAD v4
1g.1047848T>GCA337851499AGRNc.3704T>G (p.Leu1235Trp)
c.3389T>G (p.Leu1130Trp)
n.442T>G
c.3290T>G (p.Leu1097Trp)
c.2831T>G (p.Leu944Trp)
c.1970T>G (p.Leu657Trp)
n.3771T>G
n.3775T>G
1g.1047848T=CA1148802107AGRNc.3704T= (p.Leu1235=)
c.3389T= (p.Leu1130=)
n.442T=
c.3290T= (p.Leu1097=)
c.2831T= (p.Leu944=)
c.1970T= (p.Leu657=)
n.3771T=
n.3775T=
1g.1047849G>ACA415758017AGRNc.3705G>A (p.Leu1235=)
c.3390G>A (p.Leu1130=)
n.443G>A
c.3291G>A (p.Leu1097=)
c.2832G>A (p.Leu944=)
c.1971G>A (p.Leu657=)
n.3772G>A
n.3776G>A
 gnomAD v4
1g.1047849G>CCA337851500AGRNc.3705G>C (p.Leu1235Phe)
c.3390G>C (p.Leu1130Phe)
n.443G>C
c.3291G>C (p.Leu1097Phe)
c.2832G>C (p.Leu944Phe)
c.1971G>C (p.Leu657Phe)
n.3772G>C
n.3776G>C
 dbSNP gnomAD v2 gnomAD v4
1g.1047849G=CA1148802110AGRNc.3705G= (p.Leu1235=)
c.3390G= (p.Leu1130=)
n.443G=
c.3291G= (p.Leu1097=)
c.2832G= (p.Leu944=)
c.1971G= (p.Leu657=)
n.3772G=
n.3776G=
1g.1047849G>TCA337851518AGRNc.3705G>T (p.Leu1235Phe)
c.3390G>T (p.Leu1130Phe)
n.443G>T
c.3291G>T (p.Leu1097Phe)
c.2832G>T (p.Leu944Phe)
c.1971G>T (p.Leu657Phe)
n.3772G>T
n.3776G>T
 gnomAD v4
1g.1047853delCA2642491942AGRNc.3709del (p.Val1237Ter)
c.3394del (p.Val1132Ter)
n.447del
c.3295del (p.Val1099Ter)
c.2836del (p.Val946Ter)
c.1975del (p.Val659Ter)
n.3776del
n.3780del
 gnomAD v4
1g.1047850G>ACA337851520AGRNc.3706G>A (p.Gly1236Arg)
c.3391G>A (p.Gly1131Arg)
n.444G>A
c.3292G>A (p.Gly1098Arg)
c.2833G>A (p.Gly945Arg)
c.1972G>A (p.Gly658Arg)
n.3773G>A
n.3777G>A
 gnomAD v4
1g.1047850G>CCA337851527AGRNc.3706G>C (p.Gly1236Arg)
c.3391G>C (p.Gly1131Arg)
n.444G>C
c.3292G>C (p.Gly1098Arg)
c.2833G>C (p.Gly945Arg)
c.1972G>C (p.Gly658Arg)
n.3773G>C
n.3777G>C
 gnomAD v4
1g.1047850G>TCA337851531AGRNc.3706G>T (p.Gly1236Trp)
c.3391G>T (p.Gly1131Trp)
n.444G>T
c.3292G>T (p.Gly1098Trp)
c.2833G>T (p.Gly945Trp)
c.1972G>T (p.Gly658Trp)
n.3773G>T
n.3777G>T
 ClinVar gnomAD v4
1g.1047851G>ACA337851532AGRNc.3707G>A (p.Gly1236Glu)
c.3392G>A (p.Gly1131Glu)
n.445G>A
c.3293G>A (p.Gly1098Glu)
c.2834G>A (p.Gly945Glu)
c.1973G>A (p.Gly658Glu)
n.3774G>A
n.3778G>A
 gnomAD v4
1g.1047851G>CCA337851537AGRNc.3707G>C (p.Gly1236Ala)
c.3392G>C (p.Gly1131Ala)
n.445G>C
c.3293G>C (p.Gly1098Ala)
c.2834G>C (p.Gly945Ala)
c.1973G>C (p.Gly658Ala)
n.3774G>C
n.3778G>C
1g.1047851G>TCA337851541AGRNc.3707G>T (p.Gly1236Val)
c.3392G>T (p.Gly1131Val)
n.445G>T
c.3293G>T (p.Gly1098Val)
c.2834G>T (p.Gly945Val)
c.1973G>T (p.Gly658Val)
n.3774G>T
n.3778G>T
1g.1047852G>ACA509194AGRNc.3708G>A (p.Gly1236=)
c.3393G>A (p.Gly1131=)
n.446G>A
c.3294G>A (p.Gly1098=)
c.2835G>A (p.Gly945=)
c.1974G>A (p.Gly658=)
n.3775G>A
n.3779G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1047852G>CCA415758033AGRNc.3708G>C (p.Gly1236=)
c.3393G>C (p.Gly1131=)
n.446G>C
c.3294G>C (p.Gly1098=)
c.2835G>C (p.Gly945=)
c.1974G>C (p.Gly658=)
n.3775G>C
n.3779G>C
 dbSNP
1g.1047852G=CA1148802133AGRNc.3708G= (p.Gly1236=)
c.3393G= (p.Gly1131=)
n.446G=
c.3294G= (p.Gly1098=)
c.2835G= (p.Gly945=)
c.1974G= (p.Gly658=)
n.3775G=
n.3779G=
1g.1047852G>TCA415758034AGRNc.3708G>T (p.Gly1236=)
c.3393G>T (p.Gly1131=)
n.446G>T
c.3294G>T (p.Gly1098=)
c.2835G>T (p.Gly945=)
c.1974G>T (p.Gly658=)
n.3775G>T
n.3779G>T
 gnomAD v4
1g.1047853G>ACA337851565AGRNc.3709G>A (p.Val1237Met)
c.3394G>A (p.Val1132Met)
n.447G>A
c.3295G>A (p.Val1099Met)
c.2836G>A (p.Val946Met)
c.1975G>A (p.Val659Met)
n.3776G>A
n.3780G>A
 gnomAD v4
1g.1047853G>CCA337851562AGRNc.3709G>C (p.Val1237Leu)
c.3394G>C (p.Val1132Leu)
n.447G>C
c.3295G>C (p.Val1099Leu)
c.2836G>C (p.Val946Leu)
c.1975G>C (p.Val659Leu)
n.3776G>C
n.3780G>C
1g.1047853G=CA1148802136AGRNc.3709G= (p.Val1237=)
c.3394G= (p.Val1132=)
n.447G=
c.3295G= (p.Val1099=)
c.2836G= (p.Val946=)
c.1975G= (p.Val659=)
n.3776G=
n.3780G=
1g.1047853G>TCA337851550AGRNc.3709G>T (p.Val1237Leu)
c.3394G>T (p.Val1132Leu)
n.447G>T
c.3295G>T (p.Val1099Leu)
c.2836G>T (p.Val946Leu)
c.1975G>T (p.Val659Leu)
n.3776G>T
n.3780G>T
 dbSNP
1g.1047854T>ACA337851569AGRNc.3710T>A (p.Val1237Glu)
c.3395T>A (p.Val1132Glu)
n.448T>A
c.3296T>A (p.Val1099Glu)
c.2837T>A (p.Val946Glu)
c.1976T>A (p.Val659Glu)
n.3777T>A
n.3781T>A
1g.1047854T>CCA337851584AGRNc.3710T>C (p.Val1237Ala)
c.3395T>C (p.Val1132Ala)
n.448T>C
c.3296T>C (p.Val1099Ala)
c.2837T>C (p.Val946Ala)
c.1976T>C (p.Val659Ala)
n.3777T>C
n.3781T>C
1g.1047854T>GCA337851575AGRNc.3710T>G (p.Val1237Gly)
c.3395T>G (p.Val1132Gly)
n.448T>G
c.3296T>G (p.Val1099Gly)
c.2837T>G (p.Val946Gly)
c.1976T>G (p.Val659Gly)
n.3777T>G
n.3781T>G
1g.1047855G>ACA415758041AGRNc.3711G>A (p.Val1237=)
c.3396G>A (p.Val1132=)
n.449G>A
c.3297G>A (p.Val1099=)
c.2838G>A (p.Val946=)
c.1977G>A (p.Val659=)
n.3778G>A
n.3782G>A
1g.1047855G>CCA415758042AGRNc.3711G>C (p.Val1237=)
c.3396G>C (p.Val1132=)
n.449G>C
c.3297G>C (p.Val1099=)
c.2838G>C (p.Val946=)
c.1977G>C (p.Val659=)
n.3778G>C
n.3782G>C
1g.1047855G>TCA415758044AGRNc.3711G>T (p.Val1237=)
c.3396G>T (p.Val1132=)
n.449G>T
c.3297G>T (p.Val1099=)
c.2838G>T (p.Val946=)
c.1977G>T (p.Val659=)
n.3778G>T
n.3782G>T
1g.1047856A>CCA415758046AGRNc.3712A>C (p.Arg1238=)
c.3397A>C (p.Arg1133=)
n.450A>C
c.3298A>C (p.Arg1100=)
c.2839A>C (p.Arg947=)
c.1978A>C (p.Arg660=)
n.3779A>C
n.3783A>C
1g.1047856A>GCA337851586AGRNc.3712A>G (p.Arg1238Gly)
c.3397A>G (p.Arg1133Gly)
n.450A>G
c.3298A>G (p.Arg1100Gly)
c.2839A>G (p.Arg947Gly)
c.1978A>G (p.Arg660Gly)
n.3779A>G
n.3783A>G
 gnomAD v4
1g.1047856A>TCA337851590AGRNc.3712A>T (p.Arg1238Trp)
c.3397A>T (p.Arg1133Trp)
n.450A>T
c.3298A>T (p.Arg1100Trp)
c.2839A>T (p.Arg947Trp)
c.1978A>T (p.Arg660Trp)
n.3779A>T
n.3783A>T
1g.1047857G>ACA337851594AGRNc.3713G>A (p.Arg1238Lys)
c.3398G>A (p.Arg1133Lys)
n.451G>A
c.3299G>A (p.Arg1100Lys)
c.2840G>A (p.Arg947Lys)
c.1979G>A (p.Arg660Lys)
n.3780G>A
n.3784G>A
1g.1047857G>CCA337851598AGRNc.3713G>C (p.Arg1238Thr)
c.3398G>C (p.Arg1133Thr)
n.451G>C
c.3299G>C (p.Arg1100Thr)
c.2840G>C (p.Arg947Thr)
c.1979G>C (p.Arg660Thr)
n.3780G>C
n.3784G>C
1g.1047857G>TCA337851599AGRNc.3713G>T (p.Arg1238Met)
c.3398G>T (p.Arg1133Met)
n.451G>T
c.3299G>T (p.Arg1100Met)
c.2840G>T (p.Arg947Met)
c.1979G>T (p.Arg660Met)
n.3780G>T
n.3784G>T
 gnomAD v4
1g.1047858G>ACA415758056AGRNc.3714G>A (p.Arg1238=)
c.3399G>A (p.Arg1133=)
n.452G>A
c.3300G>A (p.Arg1100=)
c.2841G>A (p.Arg947=)
c.1980G>A (p.Arg660=)
n.3781G>A
n.3785G>A
1g.1047858G>CCA337851605AGRNc.3714G>C (p.Arg1238Ser)
c.3399G>C (p.Arg1133Ser)
n.452G>C
c.3300G>C (p.Arg1100Ser)
c.2841G>C (p.Arg947Ser)
c.1980G>C (p.Arg660Ser)
n.3781G>C
n.3785G>C
1g.1047858G>TCA337851618AGRNc.3714G>T (p.Arg1238Ser)
c.3399G>T (p.Arg1133Ser)
n.452G>T
c.3300G>T (p.Arg1100Ser)
c.2841G>T (p.Arg947Ser)
c.1980G>T (p.Arg660Ser)
n.3781G>T
n.3785G>T
1g.1047859C>ACA415758057AGRNc.3715C>A (p.Arg1239=)
c.3400C>A (p.Arg1134=)
n.453C>A
c.3301C>A (p.Arg1101=)
c.2842C>A (p.Arg948=)
c.1981C>A (p.Arg661=)
n.3782C>A
n.3786C>A
1g.1047859C=CA1147578770AGRNc.3715C= (p.Arg1239=)
c.3400C= (p.Arg1134=)
n.453C=
c.3301C= (p.Arg1101=)
c.2842C= (p.Arg948=)
c.1981C= (p.Arg661=)
n.3782C=
n.3786C=
1g.1047859C>GCA337851620AGRNc.3715C>G (p.Arg1239Gly)
c.3400C>G (p.Arg1134Gly)
n.453C>G
c.3301C>G (p.Arg1101Gly)
c.2842C>G (p.Arg948Gly)
c.1981C>G (p.Arg661Gly)
n.3782C>G
n.3786C>G
1g.1047859C>TCA509195AGRNc.3715C>T (p.Arg1239Trp)
c.3400C>T (p.Arg1134Trp)
n.453C>T
c.3301C>T (p.Arg1101Trp)
c.2842C>T (p.Arg948Trp)
c.1981C>T (p.Arg661Trp)
n.3782C>T
n.3786C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1047860G>ACA509196AGRNc.3716G>A (p.Arg1239Gln)
c.3401G>A (p.Arg1134Gln)
n.454G>A
c.3302G>A (p.Arg1101Gln)
c.2843G>A (p.Arg948Gln)
c.1982G>A (p.Arg661Gln)
n.3783G>A
n.3787G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1047860G>CCA337851630AGRNc.3716G>C (p.Arg1239Pro)
c.3401G>C (p.Arg1134Pro)
n.454G>C
c.3302G>C (p.Arg1101Pro)
c.2843G>C (p.Arg948Pro)
c.1982G>C (p.Arg661Pro)
n.3783G>C
n.3787G>C
1g.1047860G=CA1148802144AGRNc.3716G= (p.Arg1239=)
c.3401G= (p.Arg1134=)
n.454G=
c.3302G= (p.Arg1101=)
c.2843G= (p.Arg948=)
c.1982G= (p.Arg661=)
n.3783G=
n.3787G=
1g.1047860G>TCA337851634AGRNc.3716G>T (p.Arg1239Leu)
c.3401G>T (p.Arg1134Leu)
n.454G>T
c.3302G>T (p.Arg1101Leu)
c.2843G>T (p.Arg948Leu)
c.1982G>T (p.Arg661Leu)
n.3783G>T
n.3787G>T
1g.1047861G>ACA415758069AGRNc.3717G>A (p.Arg1239=)
c.3402G>A (p.Arg1134=)
n.455G>A
c.3303G>A (p.Arg1101=)
c.2844G>A (p.Arg948=)
c.1983G>A (p.Arg661=)
n.3784G>A
n.3788G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1047861G>CCA415758073AGRNc.3717G>C (p.Arg1239=)
c.3402G>C (p.Arg1134=)
n.455G>C
c.3303G>C (p.Arg1101=)
c.2844G>C (p.Arg948=)
c.1983G>C (p.Arg661=)
n.3784G>C
n.3788G>C
1g.1047861G=CA1148802150AGRNc.3717G= (p.Arg1239=)
c.3402G= (p.Arg1134=)
n.455G=
c.3303G= (p.Arg1101=)
c.2844G= (p.Arg948=)
c.1983G= (p.Arg661=)
n.3784G=
n.3788G=
1g.1047861G>TCA415758075AGRNc.3717G>T (p.Arg1239=)
c.3402G>T (p.Arg1134=)
n.455G>T
c.3303G>T (p.Arg1101=)
c.2844G>T (p.Arg948=)
c.1983G>T (p.Arg661=)
n.3784G>T
n.3788G>T
 gnomAD v4
1g.1047862C>ACA337851636AGRNc.3718C>A (p.Pro1240Thr)
c.3403C>A (p.Pro1135Thr)
n.456C>A
c.3304C>A (p.Pro1102Thr)
c.2845C>A (p.Pro949Thr)
c.1984C>A (p.Pro662Thr)
n.3785C>A
n.3789C>A
 gnomAD v4
1g.1047862C=CA1148802168AGRNc.3718C= (p.Pro1240=)
c.3403C= (p.Pro1135=)
n.456C=
c.3304C= (p.Pro1102=)
c.2845C= (p.Pro949=)
c.1984C= (p.Pro662=)
n.3785C=
n.3789C=
1g.1047862C>GCA337851645AGRNc.3718C>G (p.Pro1240Ala)
c.3403C>G (p.Pro1135Ala)
n.456C>G
c.3304C>G (p.Pro1102Ala)
c.2845C>G (p.Pro949Ala)
c.1984C>G (p.Pro662Ala)
n.3785C>G
n.3789C>G
1g.1047862C>TCA509197AGRNc.3718C>T (p.Pro1240Ser)
c.3403C>T (p.Pro1135Ser)
n.456C>T
c.3304C>T (p.Pro1102Ser)
c.2845C>T (p.Pro949Ser)
c.1984C>T (p.Pro662Ser)
n.3785C>T
n.3789C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1047863dupCA1148802158AGRNc.3719dup (p.Leu1241AlafsTer11)
c.3404dup (p.Leu1136AlafsTer11)
n.457dup
c.3305dup (p.Leu1103AlafsTer11)
c.2846dup (p.Leu950AlafsTer11)
c.1985dup (p.Leu663AlafsTer11)
n.3786dup
n.3790dup
 dbSNP
1g.1047863C>ACA337851669AGRNc.3719C>A (p.Pro1240Gln)
c.3404C>A (p.Pro1135Gln)
n.457C>A
c.3305C>A (p.Pro1102Gln)
c.2846C>A (p.Pro949Gln)
c.1985C>A (p.Pro662Gln)
n.3786C>A
n.3790C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1047863C=CA1141878271AGRNc.3719C= (p.Pro1240=)
c.3404C= (p.Pro1135=)
n.457C=
c.3305C= (p.Pro1102=)
c.2846C= (p.Pro949=)
c.1985C= (p.Pro662=)
n.3786C=
n.3790C=
1g.1047863C>GCA337851653AGRNc.3719C>G (p.Pro1240Arg)
c.3404C>G (p.Pro1135Arg)
n.457C>G
c.3305C>G (p.Pro1102Arg)
c.2846C>G (p.Pro949Arg)
c.1985C>G (p.Pro662Arg)
n.3786C>G
n.3790C>G
1g.1047863C>TCA509198AGRNc.3719C>T (p.Pro1240Leu)
c.3404C>T (p.Pro1135Leu)
n.457C>T
c.3305C>T (p.Pro1102Leu)
c.2846C>T (p.Pro949Leu)
c.1985C>T (p.Pro662Leu)
n.3786C>T
n.3790C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1047864G>ACA509199AGRNc.3720G>A (p.Pro1240=)
c.3405G>A (p.Pro1135=)
n.458G>A
c.3306G>A (p.Pro1102=)
c.2847G>A (p.Pro949=)
c.1986G>A (p.Pro662=)
n.3787G>A
n.3791G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1047864G>CCA415758082AGRNc.3720G>C (p.Pro1240=)
c.3405G>C (p.Pro1135=)
n.458G>C
c.3306G>C (p.Pro1102=)
c.2847G>C (p.Pro949=)
c.1986G>C (p.Pro662=)
n.3787G>C
n.3791G>C
1g.1047864G=CA1146037013AGRNc.3720G= (p.Pro1240=)
c.3405G= (p.Pro1135=)
n.458G=
c.3306G= (p.Pro1102=)
c.2847G= (p.Pro949=)
c.1986G= (p.Pro662=)
n.3787G=
n.3791G=
1g.1047864G>TCA415758083AGRNc.3720G>T (p.Pro1240=)
c.3405G>T (p.Pro1135=)
n.458G>T
c.3306G>T (p.Pro1102=)
c.2847G>T (p.Pro949=)
c.1986G>T (p.Pro662=)
n.3787G>T
n.3791G>T
 gnomAD v4
1g.1047865C>ACA509200AGRNc.3721C>A (p.Leu1241Met)
c.3406C>A (p.Leu1136Met)
n.459C>A
c.3307C>A (p.Leu1103Met)
c.2848C>A (p.Leu950Met)
c.1987C>A (p.Leu663Met)
n.3788C>A
n.3792C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1047865C=CA1143531889AGRNc.3721C= (p.Leu1241=)
c.3406C= (p.Leu1136=)
n.459C=
c.3307C= (p.Leu1103=)
c.2848C= (p.Leu950=)
c.1987C= (p.Leu663=)
n.3788C=
n.3792C=
1g.1047865C>GCA337851690AGRNc.3721C>G (p.Leu1241Val)
c.3406C>G (p.Leu1136Val)
n.459C>G
c.3307C>G (p.Leu1103Val)
c.2848C>G (p.Leu950Val)
c.1987C>G (p.Leu663Val)
n.3788C>G
n.3792C>G
1g.1047865C>TCA415758089AGRNc.3721C>T (p.Leu1241=)
c.3406C>T (p.Leu1136=)
n.459C>T
c.3307C>T (p.Leu1103=)
c.2848C>T (p.Leu950=)
c.1987C>T (p.Leu663=)
n.3788C>T
n.3792C>T
 gnomAD v4
1g.1047866T>ACA337851695AGRNc.3722T>A (p.Leu1241Gln)
c.3407T>A (p.Leu1136Gln)
c.3308T>A (p.Leu1103Gln)
c.2849T>A (p.Leu950Gln)
c.1988T>A (p.Leu663Gln)
n.3789T>A
n.3793T>A
1g.1047866T>CCA337851699AGRNc.3722T>C (p.Leu1241Pro)
c.3407T>C (p.Leu1136Pro)
c.3308T>C (p.Leu1103Pro)
c.2849T>C (p.Leu950Pro)
c.1988T>C (p.Leu663Pro)
n.3789T>C
n.3793T>C
1g.1047866T>GCA337851702AGRNc.3722T>G (p.Leu1241Arg)
c.3407T>G (p.Leu1136Arg)
c.3308T>G (p.Leu1103Arg)
c.2849T>G (p.Leu950Arg)
c.1988T>G (p.Leu663Arg)
n.3789T>G
n.3793T>G
1g.1047867G>ACA16759952AGRNc.3723G>A (p.Leu1241=)
c.3408G>A (p.Leu1136=)
c.3309G>A (p.Leu1103=)
c.2850G>A (p.Leu950=)
c.1989G>A (p.Leu663=)
n.3790G>A
n.3794G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1047867G>CCA415758094AGRNc.3723G>C (p.Leu1241=)
c.3408G>C (p.Leu1136=)
c.3309G>C (p.Leu1103=)
c.2850G>C (p.Leu950=)
c.1989G>C (p.Leu663=)
n.3790G>C
n.3794G>C
1g.1047867G=CA1148802205AGRNc.3723G= (p.Leu1241=)
c.3408G= (p.Leu1136=)
c.3309G= (p.Leu1103=)
c.2850G= (p.Leu950=)
c.1989G= (p.Leu663=)
n.3790G=
n.3794G=
1g.1047867G>TCA415758093AGRNc.3723G>T (p.Leu1241=)
c.3408G>T (p.Leu1136=)
c.3309G>T (p.Leu1103=)
c.2850G>T (p.Leu950=)
c.1989G>T (p.Leu663=)
n.3790G>T
n.3794G>T
1g.1047868C>ACA337851704AGRNc.3724C>A (p.Gln1242Lys)
c.3409C>A (p.Gln1137Lys)
c.3310C>A (p.Gln1104Lys)
c.2851C>A (p.Gln951Lys)
c.1990C>A (p.Gln664Lys)
n.3791C>A
n.3795C>A
1g.1047868C>GCA337851708AGRNc.3724C>G (p.Gln1242Glu)
c.3409C>G (p.Gln1137Glu)
c.3310C>G (p.Gln1104Glu)
c.2851C>G (p.Gln951Glu)
c.1990C>G (p.Gln664Glu)
n.3791C>G
n.3795C>G
1g.1047868C>TCA337851711AGRNc.3724C>T (p.Gln1242Ter)
c.3409C>T (p.Gln1137Ter)
c.3310C>T (p.Gln1104Ter)
c.2851C>T (p.Gln951Ter)
c.1990C>T (p.Gln664Ter)
n.3791C>T
n.3795C>T
 ClinVar dbSNP
1g.1047869A>CCA337851714AGRNc.3725A>C (p.Gln1242Pro)
c.3410A>C (p.Gln1137Pro)
c.3311A>C (p.Gln1104Pro)
c.2852A>C (p.Gln951Pro)
c.1991A>C (p.Gln664Pro)
n.3792A>C
n.3796A>C
1g.1047869A>GCA337851735AGRNc.3725A>G (p.Gln1242Arg)
c.3410A>G (p.Gln1137Arg)
c.3311A>G (p.Gln1104Arg)
c.2852A>G (p.Gln951Arg)
c.1991A>G (p.Gln664Arg)
n.3792A>G
n.3796A>G
 gnomAD v4
1g.1047869A>TCA337851740AGRNc.3725A>T (p.Gln1242Leu)
c.3410A>T (p.Gln1137Leu)
c.3311A>T (p.Gln1104Leu)
c.2852A>T (p.Gln951Leu)
c.1991A>T (p.Gln664Leu)
n.3792A>T
n.3796A>T
1g.1047870G>ACA415758108AGRNc.3726G>A (p.Gln1242=)
c.3411G>A (p.Gln1137=)
c.3312G>A (p.Gln1104=)
c.2853G>A (p.Gln951=)
c.1992G>A (p.Gln664=)
n.3793G>A
n.3797G>A
 gnomAD v4
1g.1047870G>CCA337851745AGRNc.3726G>C (p.Gln1242His)
c.3411G>C (p.Gln1137His)
c.3312G>C (p.Gln1104His)
c.2853G>C (p.Gln951His)
c.1992G>C (p.Gln664His)
n.3793G>C
n.3797G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1047870G=CA1148802227AGRNc.3726G= (p.Gln1242=)
c.3411G= (p.Gln1137=)
c.3312G= (p.Gln1104=)
c.2853G= (p.Gln951=)
c.1992G= (p.Gln664=)
n.3793G=
n.3797G=
1g.1047870G>TCA337851748AGRNc.3726G>T (p.Gln1242His)
c.3411G>T (p.Gln1137His)
c.3312G>T (p.Gln1104His)
c.2853G>T (p.Gln951His)
c.1992G>T (p.Gln664His)
n.3793G>T
n.3797G>T
1g.1047871G>ACA509201AGRNc.3727G>A (p.Glu1243Lys)
c.3412G>A (p.Glu1138Lys)
c.3313G>A (p.Glu1105Lys)
c.2854G>A (p.Glu952Lys)
c.1993G>A (p.Glu665Lys)
n.3794G>A
n.3798G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1047871G>CCA337851755AGRNc.3727G>C (p.Glu1243Gln)
c.3412G>C (p.Glu1138Gln)
c.3313G>C (p.Glu1105Gln)
c.2854G>C (p.Glu952Gln)
c.1993G>C (p.Glu665Gln)
n.3794G>C
n.3798G>C
1g.1047871G=CA1148802240AGRNc.3727G= (p.Glu1243=)
c.3412G= (p.Glu1138=)
c.3313G= (p.Glu1105=)
c.2854G= (p.Glu952=)
c.1993G= (p.Glu665=)
n.3794G=
n.3798G=
1g.1047871G>TCA337851752AGRNc.3727G>T (p.Glu1243Ter)
c.3412G>T (p.Glu1138Ter)
c.3313G>T (p.Glu1105Ter)
c.2854G>T (p.Glu952Ter)
c.1993G>T (p.Glu665Ter)
n.3794G>T
n.3798G>T
1g.1047872A>CCA337851759AGRNc.3728A>C (p.Glu1243Ala)
c.3413A>C (p.Glu1138Ala)
c.3314A>C (p.Glu1105Ala)
c.2855A>C (p.Glu952Ala)
c.1994A>C (p.Glu665Ala)
n.3795A>C
n.3799A>C
1g.1047872A>GCA337851760AGRNc.3728A>G (p.Glu1243Gly)
c.3413A>G (p.Glu1138Gly)
c.3314A>G (p.Glu1105Gly)
c.2855A>G (p.Glu952Gly)
c.1994A>G (p.Glu665Gly)
n.3795A>G
n.3799A>G
1g.1047872A>TCA337851761AGRNc.3728A>T (p.Glu1243Val)
c.3413A>T (p.Glu1138Val)
c.3314A>T (p.Glu1105Val)
c.2855A>T (p.Glu952Val)
c.1994A>T (p.Glu665Val)
n.3795A>T
n.3799A>T
1g.1047873G>ACA415758117AGRNc.3729G>A (p.Glu1243=)
c.3414G>A (p.Glu1138=)
c.3315G>A (p.Glu1105=)
c.2856G>A (p.Glu952=)
c.1995G>A (p.Glu665=)
n.3796G>A
n.3800G>A
1g.1047873G>CCA337851776AGRNc.3729G>C (p.Glu1243Asp)
c.3414G>C (p.Glu1138Asp)
c.3315G>C (p.Glu1105Asp)
c.2856G>C (p.Glu952Asp)
c.1995G>C (p.Glu665Asp)
n.3796G>C
n.3800G>C
1g.1047873G>TCA337851778AGRNc.3729G>T (p.Glu1243Asp)
c.3414G>T (p.Glu1138Asp)
c.3315G>T (p.Glu1105Asp)
c.2856G>T (p.Glu952Asp)
c.1995G>T (p.Glu665Asp)
n.3796G>T
n.3800G>T
 gnomAD v4
1g.1047874C>ACA337851785AGRNc.3730C>A (p.His1244Asn)
c.3415C>A (p.His1139Asn)
c.3316C>A (p.His1106Asn)
c.2857C>A (p.His953Asn)
c.1996C>A (p.His666Asn)
n.3797C>A
n.3801C>A
1g.1047874C>GCA337851783AGRNc.3730C>G (p.His1244Asp)
c.3415C>G (p.His1139Asp)
c.3316C>G (p.His1106Asp)
c.2857C>G (p.His953Asp)
c.1996C>G (p.His666Asp)
n.3797C>G
n.3801C>G
1g.1047874C>TCA337851782AGRNc.3730C>T (p.His1244Tyr)
c.3415C>T (p.His1139Tyr)
c.3316C>T (p.His1106Tyr)
c.2857C>T (p.His953Tyr)
c.1996C>T (p.His666Tyr)
n.3797C>T
n.3801C>T
 gnomAD v4
1g.1047875A=CA1148802250AGRNc.3731A= (p.His1244=)
c.3416A= (p.His1139=)
c.3317A= (p.His1106=)
c.2858A= (p.His953=)
c.1997A= (p.His666=)
n.3798A=
n.3802A=
1g.1047875A>CCA337851789AGRNc.3731A>C (p.His1244Pro)
c.3416A>C (p.His1139Pro)
c.3317A>C (p.His1106Pro)
c.2858A>C (p.His953Pro)
c.1997A>C (p.His666Pro)
n.3798A>C
n.3802A>C
1g.1047875A>GCA509202AGRNc.3731A>G (p.His1244Arg)
c.3416A>G (p.His1139Arg)
c.3317A>G (p.His1106Arg)
c.2858A>G (p.His953Arg)
c.1997A>G (p.His666Arg)
n.3798A>G
n.3802A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1047875A>TCA337851807AGRNc.3731A>T (p.His1244Leu)
c.3416A>T (p.His1139Leu)
c.3317A>T (p.His1106Leu)
c.2858A>T (p.His953Leu)
c.1997A>T (p.His666Leu)
n.3798A>T
n.3802A>T
1g.1047876C>ACA337851812AGRNc.3732C>A (p.His1244Gln)
c.3417C>A (p.His1139Gln)
c.3318C>A (p.His1106Gln)
c.2859C>A (p.His953Gln)
c.1998C>A (p.His666Gln)
n.3799C>A
n.3803C>A
1g.1047876C=CA1144950190AGRNc.3732C= (p.His1244=)
c.3417C= (p.His1139=)
c.3318C= (p.His1106=)
c.2859C= (p.His953=)
c.1998C= (p.His666=)
n.3799C=
n.3803C=
1g.1047876C>GCA337851822AGRNc.3732C>G (p.His1244Gln)
c.3417C>G (p.His1139Gln)
c.3318C>G (p.His1106Gln)
c.2859C>G (p.His953Gln)
c.1998C>G (p.His666Gln)
n.3799C>G
n.3803C>G
1g.1047876C>TCA209732AGRNc.3732C>T (p.His1244=)
c.3417C>T (p.His1139=)
c.3318C>T (p.His1106=)
c.2859C>T (p.His953=)
c.1998C>T (p.His666=)
n.3799C>T
n.3803C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1047877G>ACA509203AGRNc.3733G>A (p.Val1245Met)
c.3418G>A (p.Val1140Met)
c.3319G>A (p.Val1107Met)
c.2860G>A (p.Val954Met)
c.1999G>A (p.Val667Met)
n.3800G>A
n.3804G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1047877G>CCA337851836AGRNc.3733G>C (p.Val1245Leu)
c.3418G>C (p.Val1140Leu)
c.3319G>C (p.Val1107Leu)
c.2860G>C (p.Val954Leu)
c.1999G>C (p.Val667Leu)
n.3800G>C
n.3804G>C
1g.1047877G=CA1148802269AGRNc.3733G= (p.Val1245=)
c.3418G= (p.Val1140=)
c.3319G= (p.Val1107=)
c.2860G= (p.Val954=)
c.1999G= (p.Val667=)
n.3800G=
n.3804G=
1g.1047877G>TCA337851833AGRNc.3733G>T (p.Val1245Leu)
c.3418G>T (p.Val1140Leu)
c.3319G>T (p.Val1107Leu)
c.2860G>T (p.Val954Leu)
c.1999G>T (p.Val667Leu)
n.3800G>T
n.3804G>T
1g.1047878T>ACA337851851AGRNc.3734T>A (p.Val1245Glu)
c.3419T>A (p.Val1140Glu)
c.3320T>A (p.Val1107Glu)
c.2861T>A (p.Val954Glu)
c.2000T>A (p.Val667Glu)
n.3801T>A
n.3805T>A
 gnomAD v4
1g.1047878T>CCA337851854AGRNc.3734T>C (p.Val1245Ala)
c.3419T>C (p.Val1140Ala)
c.3320T>C (p.Val1107Ala)
c.2861T>C (p.Val954Ala)
c.2000T>C (p.Val667Ala)
n.3801T>C
n.3805T>C
1g.1047878T>GCA337851858AGRNc.3734T>G (p.Val1245Gly)
c.3419T>G (p.Val1140Gly)
c.3320T>G (p.Val1107Gly)
c.2861T>G (p.Val954Gly)
c.2000T>G (p.Val667Gly)
n.3801T>G
n.3805T>G
1g.1047879G>ACA415758131AGRNc.3735G>A (p.Val1245=)
c.3420G>A (p.Val1140=)
c.3321G>A (p.Val1107=)
c.2862G>A (p.Val954=)
c.2001G>A (p.Val667=)
n.3802G>A
n.3806G>A
 ClinVar dbSNP gnomAD v4
1g.1047879G>CCA415758132AGRNc.3735G>C (p.Val1245=)
c.3420G>C (p.Val1140=)
c.3321G>C (p.Val1107=)
c.2862G>C (p.Val954=)
c.2001G>C (p.Val667=)
n.3802G>C
n.3806G>C
1g.1047879G>TCA415758134AGRNc.3735G>T (p.Val1245=)
c.3420G>T (p.Val1140=)
c.3321G>T (p.Val1107=)
c.2862G>T (p.Val954=)
c.2001G>T (p.Val667=)
n.3802G>T
n.3806G>T
1g.1047880C>ACA415758140AGRNc.3736C>A (p.Arg1246=)
c.3421C>A (p.Arg1141=)
c.3322C>A (p.Arg1108=)
c.2863C>A (p.Arg955=)
c.2002C>A (p.Arg668=)
n.3803C>A
n.3807C>A
 dbSNP gnomAD v2 gnomAD v4
1g.1047880C=CA1148802280AGRNc.3736C= (p.Arg1246=)
c.3421C= (p.Arg1141=)
c.3322C= (p.Arg1108=)
c.2863C= (p.Arg955=)
c.2002C= (p.Arg668=)
n.3803C=
n.3807C=
1g.1047880C>GCA337851861AGRNc.3736C>G (p.Arg1246Gly)
c.3421C>G (p.Arg1141Gly)
c.3322C>G (p.Arg1108Gly)
c.2863C>G (p.Arg955Gly)
c.2002C>G (p.Arg668Gly)
n.3803C>G
n.3807C>G
 dbSNP gnomAD v3 gnomAD v4
1g.1047880C>TCA337851865AGRNc.3736C>T (p.Arg1246Ter)
c.3421C>T (p.Arg1141Ter)
c.3322C>T (p.Arg1108Ter)
c.2863C>T (p.Arg955Ter)
c.2002C>T (p.Arg668Ter)
n.3803C>T
n.3807C>T
 gnomAD v4
1g.1047881G>ACA16760000AGRNc.3737G>A (p.Arg1246Gln)
c.3422G>A (p.Arg1141Gln)
c.3323G>A (p.Arg1108Gln)
c.2864G>A (p.Arg955Gln)
c.2003G>A (p.Arg668Gln)
n.3804G>A
n.3808G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1047881G>CCA337851871AGRNc.3737G>C (p.Arg1246Pro)
c.3422G>C (p.Arg1141Pro)
c.3323G>C (p.Arg1108Pro)
c.2864G>C (p.Arg955Pro)
c.2003G>C (p.Arg668Pro)
n.3804G>C
n.3808G>C
1g.1047881G=CA1148802309AGRNc.3737G= (p.Arg1246=)
c.3422G= (p.Arg1141=)
c.3323G= (p.Arg1108=)
c.2864G= (p.Arg955=)
c.2003G= (p.Arg668=)
n.3804G=
n.3808G=
1g.1047881G>TCA337851875AGRNc.3737G>T (p.Arg1246Leu)
c.3422G>T (p.Arg1141Leu)
c.3323G>T (p.Arg1108Leu)
c.2864G>T (p.Arg955Leu)
c.2003G>T (p.Arg668Leu)
n.3804G>T
n.3808G>T
1g.1047882A=CA1148802316AGRNc.3738A= (p.Arg1246=)
c.3423A= (p.Arg1141=)
c.3324A= (p.Arg1108=)
c.2865A= (p.Arg955=)
c.2004A= (p.Arg668=)
n.3805A=
n.3809A=
1g.1047882A>CCA415758154AGRNc.3738A>C (p.Arg1246=)
c.3423A>C (p.Arg1141=)
c.3324A>C (p.Arg1108=)
c.2865A>C (p.Arg955=)
c.2004A>C (p.Arg668=)
n.3805A>C
n.3809A>C
1g.1047882A>GCA415758152AGRNc.3738A>G (p.Arg1246=)
c.3423A>G (p.Arg1141=)
c.3324A>G (p.Arg1108=)
c.2865A>G (p.Arg955=)
c.2004A>G (p.Arg668=)
n.3805A>G
n.3809A>G
 dbSNP gnomAD v3 gnomAD v4
1g.1047882A>TCA415758150AGRNc.3738A>T (p.Arg1246=)
c.3423A>T (p.Arg1141=)
c.3324A>T (p.Arg1108=)
c.2865A>T (p.Arg955=)
c.2004A>T (p.Arg668=)
n.3805A>T
n.3809A>T
1g.1047883T>ACA337851877AGRNc.3739T>A (p.Phe1247Ile)
c.3424T>A (p.Phe1142Ile)
c.3325T>A (p.Phe1109Ile)
c.2866T>A (p.Phe956Ile)
c.2005T>A (p.Phe669Ile)
n.3806T>A
n.3810T>A
1g.1047883T>CCA337851879AGRNc.3739T>C (p.Phe1247Leu)
c.3424T>C (p.Phe1142Leu)
c.3325T>C (p.Phe1109Leu)
c.2866T>C (p.Phe956Leu)
c.2005T>C (p.Phe669Leu)
n.3806T>C
n.3810T>C
1g.1047883T>GCA509204AGRNc.3739T>G (p.Phe1247Val)
c.3424T>G (p.Phe1142Val)
c.3325T>G (p.Phe1109Val)
c.2866T>G (p.Phe956Val)
c.2005T>G (p.Phe669Val)
n.3806T>G
n.3810T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1047883T=CA1148802327AGRNc.3739T= (p.Phe1247=)
c.3424T= (p.Phe1142=)
c.3325T= (p.Phe1109=)
c.2866T= (p.Phe956=)
c.2005T= (p.Phe669=)
n.3806T=
n.3810T=
1g.1047884T>ACA337851885AGRNc.3740T>A (p.Phe1247Tyr)
c.3425T>A (p.Phe1142Tyr)
c.3326T>A (p.Phe1109Tyr)
c.2867T>A (p.Phe956Tyr)
c.2006T>A (p.Phe669Tyr)
n.3807T>A
n.3811T>A
1g.1047884T>CCA16760010AGRNc.3740T>C (p.Phe1247Ser)
c.3425T>C (p.Phe1142Ser)
c.3326T>C (p.Phe1109Ser)
c.2867T>C (p.Phe956Ser)
c.2006T>C (p.Phe669Ser)
n.3807T>C
n.3811T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1047884T>GCA337851888AGRNc.3740T>G (p.Phe1247Cys)
c.3425T>G (p.Phe1142Cys)
c.3326T>G (p.Phe1109Cys)
c.2867T>G (p.Phe956Cys)
c.2006T>G (p.Phe669Cys)
n.3807T>G
n.3811T>G
 gnomAD v4
1g.1047884T=CA1148802619AGRNc.3740T= (p.Phe1247=)
c.3425T= (p.Phe1142=)
c.3326T= (p.Phe1109=)
c.2867T= (p.Phe956=)
c.2006T= (p.Phe669=)
n.3807T=
n.3811T=
1g.1047885T>ACA337851894AGRNc.3741T>A (p.Phe1247Leu)
c.3426T>A (p.Phe1142Leu)
c.3327T>A (p.Phe1109Leu)
c.2868T>A (p.Phe956Leu)
c.2007T>A (p.Phe669Leu)
n.3808T>A
n.3812T>A
1g.1047885T>CCA415758166AGRNc.3741T>C (p.Phe1247=)
c.3426T>C (p.Phe1142=)
c.3327T>C (p.Phe1109=)
c.2868T>C (p.Phe956=)
c.2007T>C (p.Phe669=)
n.3808T>C
n.3812T>C
1g.1047885T>GCA337851898AGRNc.3741T>G (p.Phe1247Leu)
c.3426T>G (p.Phe1142Leu)
c.3327T>G (p.Phe1109Leu)
c.2868T>G (p.Phe956Leu)
c.2007T>G (p.Phe669Leu)
n.3808T>G
n.3812T>G
1g.1047886A>CCA337851899AGRNc.3742A>C (p.Met1248Leu)
c.3427A>C (p.Met1143Leu)
c.3328A>C (p.Met1110Leu)
c.2869A>C (p.Met957Leu)
c.2008A>C (p.Met670Leu)
n.3809A>C
n.3813A>C
1g.1047886A>GCA337851900AGRNc.3742A>G (p.Met1248Val)
c.3427A>G (p.Met1143Val)
c.3328A>G (p.Met1110Val)
c.2869A>G (p.Met957Val)
c.2008A>G (p.Met670Val)
n.3809A>G
n.3813A>G
1g.1047886A>TCA337851908AGRNc.3742A>T (p.Met1248Leu)
c.3427A>T (p.Met1143Leu)
c.3328A>T (p.Met1110Leu)
c.2869A>T (p.Met957Leu)
c.2008A>T (p.Met670Leu)
n.3809A>T
n.3813A>T
 COSMIC
1g.1047887T>ACA337851921AGRNc.3743T>A (p.Met1248Lys)
c.3428T>A (p.Met1143Lys)
c.3329T>A (p.Met1110Lys)
c.2870T>A (p.Met957Lys)
c.2009T>A (p.Met670Lys)
n.3810T>A
n.3814T>A
1g.1047887T>CCA337851923AGRNc.3743T>C (p.Met1248Thr)
c.3428T>C (p.Met1143Thr)
c.3329T>C (p.Met1110Thr)
c.2870T>C (p.Met957Thr)
c.2009T>C (p.Met670Thr)
n.3810T>C
n.3814T>C
 dbSNP gnomAD v3 gnomAD v4
1g.1047887T>GCA337851928AGRNc.3743T>G (p.Met1248Arg)
c.3428T>G (p.Met1143Arg)
c.3329T>G (p.Met1110Arg)
c.2870T>G (p.Met957Arg)
c.2009T>G (p.Met670Arg)
n.3810T>G
n.3814T>G
1g.1047887T=CA1148802625AGRNc.3743T= (p.Met1248=)
c.3428T= (p.Met1143=)
c.3329T= (p.Met1110=)
c.2870T= (p.Met957=)
c.2009T= (p.Met670=)
n.3810T=
n.3814T=
1g.1047888G>ACA337851932AGRNc.3744G>A (p.Met1248Ile)
c.3429G>A (p.Met1143Ile)
c.3330G>A (p.Met1110Ile)
c.2871G>A (p.Met957Ile)
c.2010G>A (p.Met670Ile)
n.3811G>A
n.3815G>A
1g.1047888G>CCA337851935AGRNc.3744G>C (p.Met1248Ile)
c.3429G>C (p.Met1143Ile)
c.3330G>C (p.Met1110Ile)
c.2871G>C (p.Met957Ile)
c.2010G>C (p.Met670Ile)
n.3811G>C
n.3815G>C
1g.1047888G>TCA337851939AGRNc.3744G>T (p.Met1248Ile)
c.3429G>T (p.Met1143Ile)
c.3330G>T (p.Met1110Ile)
c.2871G>T (p.Met957Ile)
c.2010G>T (p.Met670Ile)
n.3811G>T
n.3815G>T
 gnomAD v4
1g.1047889G>ACA337851940AGRNc.3745G>A (p.Asp1249Asn)
c.3430G>A (p.Asp1144Asn)
c.3331G>A (p.Asp1111Asn)
c.2872G>A (p.Asp958Asn)
c.2011G>A (p.Asp671Asn)
n.3812G>A
n.3816G>A
1g.1047889G>CCA337851942AGRNc.3745G>C (p.Asp1249His)
c.3430G>C (p.Asp1144His)
c.3331G>C (p.Asp1111His)
c.2872G>C (p.Asp958His)
c.2011G>C (p.Asp671His)
n.3812G>C
n.3816G>C
1g.1047889G>TCA337851943AGRNc.3745G>T (p.Asp1249Tyr)
c.3430G>T (p.Asp1144Tyr)
c.3331G>T (p.Asp1111Tyr)
c.2872G>T (p.Asp958Tyr)
c.2011G>T (p.Asp671Tyr)
n.3812G>T
n.3816G>T
 gnomAD v4
1g.1047890A=CA1148802626AGRNc.3746A= (p.Asp1249=)
c.3431A= (p.Asp1144=)
c.3332A= (p.Asp1111=)
c.2873A= (p.Asp958=)
c.2012A= (p.Asp671=)
n.3813A=
n.3817A=
1g.1047890A>CCA337851952AGRNc.3746A>C (p.Asp1249Ala)
c.3431A>C (p.Asp1144Ala)
c.3332A>C (p.Asp1111Ala)
c.2873A>C (p.Asp958Ala)
c.2012A>C (p.Asp671Ala)
n.3813A>C
n.3817A>C
1g.1047890A>GCA16760014AGRNc.3746A>G (p.Asp1249Gly)
c.3431A>G (p.Asp1144Gly)
c.3332A>G (p.Asp1111Gly)
c.2873A>G (p.Asp958Gly)
c.2012A>G (p.Asp671Gly)
n.3813A>G
n.3817A>G
 dbSNP
1g.1047890A>TCA337851951AGRNc.3746A>T (p.Asp1249Val)
c.3431A>T (p.Asp1144Val)
c.3332A>T (p.Asp1111Val)
c.2873A>T (p.Asp958Val)
c.2012A>T (p.Asp671Val)
n.3813A>T
n.3817A>T
1g.1047891C>ACA337851954AGRNc.3747C>A (p.Asp1249Glu)
c.3432C>A (p.Asp1144Glu)
c.3333C>A (p.Asp1111Glu)
c.2874C>A (p.Asp958Glu)
c.2013C>A (p.Asp671Glu)
n.3814C>A
n.3818C>A
1g.1047891C=CA1148802627AGRNc.3747C= (p.Asp1249=)
c.3432C= (p.Asp1144=)
c.3333C= (p.Asp1111=)
c.2874C= (p.Asp958=)
c.2013C= (p.Asp671=)
n.3814C=
n.3818C=
1g.1047891C>GCA509205AGRNc.3747C>G (p.Asp1249Glu)
c.3432C>G (p.Asp1144Glu)
c.3333C>G (p.Asp1111Glu)
c.2874C>G (p.Asp958Glu)
c.2013C>G (p.Asp671Glu)
n.3814C>G
n.3818C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1047891C>TCA415758186AGRNc.3747C>T (p.Asp1249=)
c.3432C>T (p.Asp1144=)
c.3333C>T (p.Asp1111=)
c.2874C>T (p.Asp958=)
c.2013C>T (p.Asp671=)
n.3814C>T
n.3818C>T
1g.1047891_1047892delinsCTCA1148802628AGRNc.3747_3748delinsCT (p.Asp1249=)
c.3432_3433delinsCT (p.Asp1144=)
c.3333_3334delinsCT (p.Asp1111=)
c.2874_2875delinsCT (p.Asp958=)
c.2013_2014delinsCT (p.Asp671=)
n.3814_3815delinsCT
n.3818_3819delinsCT
1g.1047892T>ACA337851959AGRNc.3748T>A (p.Phe1250Ile)
c.3433T>A (p.Phe1145Ile)
c.3334T>A (p.Phe1112Ile)
c.2875T>A (p.Phe959Ile)
c.2014T>A (p.Phe672Ile)
n.3815T>A
n.3819T>A
1g.1047892T>CCA337851969AGRNc.3748T>C (p.Phe1250Leu)
c.3433T>C (p.Phe1145Leu)
c.3334T>C (p.Phe1112Leu)
c.2875T>C (p.Phe959Leu)
c.2014T>C (p.Phe672Leu)
n.3815T>C
n.3819T>C
1g.1047892T>GCA337851979AGRNc.3748T>G (p.Phe1250Val)
c.3433T>G (p.Phe1145Val)
c.3334T>G (p.Phe1112Val)
c.2875T>G (p.Phe959Val)
c.2014T>G (p.Phe672Val)
n.3815T>G
n.3819T>G
 dbSNP gnomAD v2
1g.1047892T=CA1148802631AGRNc.3748T= (p.Phe1250=)
c.3433T= (p.Phe1145=)
c.3334T= (p.Phe1112=)
c.2875T= (p.Phe959=)
c.2014T= (p.Phe672=)
n.3815T=
n.3819T=
1g.1047894delCA884897835AGRNc.3750del (p.Phe1250LeufsTer?)
c.3435del (p.Phe1145LeufsTer?)
c.3336del (p.Phe1112LeufsTer?)
c.2877del (p.Phe959LeufsTer?)
c.2016del (p.Phe672LeufsTer?)
n.3817del
n.3821del
 dbSNP
1g.1047893T>ACA337851980AGRNc.3749T>A (p.Phe1250Tyr)
c.3434T>A (p.Phe1145Tyr)
c.3335T>A (p.Phe1112Tyr)
c.2876T>A (p.Phe959Tyr)
c.2015T>A (p.Phe672Tyr)
n.3816T>A
n.3820T>A
1g.1047893T>CCA337851984AGRNc.3749T>C (p.Phe1250Ser)
c.3434T>C (p.Phe1145Ser)
c.3335T>C (p.Phe1112Ser)
c.2876T>C (p.Phe959Ser)
c.2015T>C (p.Phe672Ser)
n.3816T>C
n.3820T>C
1g.1047893T>GCA337851995AGRNc.3749T>G (p.Phe1250Cys)
c.3434T>G (p.Phe1145Cys)
c.3335T>G (p.Phe1112Cys)
c.2876T>G (p.Phe959Cys)
c.2015T>G (p.Phe672Cys)
n.3816T>G
n.3820T>G
 gnomAD v4
1g.1047894T>ACA337852002AGRNc.3750T>A (p.Phe1250Leu)
c.3435T>A (p.Phe1145Leu)
c.3336T>A (p.Phe1112Leu)
c.2877T>A (p.Phe959Leu)
c.2016T>A (p.Phe672Leu)
n.3817T>A
n.3821T>A
1g.1047894T>CCA509206AGRNc.3750T>C (p.Phe1250=)
c.3435T>C (p.Phe1145=)
c.3336T>C (p.Phe1112=)
c.2877T>C (p.Phe959=)
c.2016T>C (p.Phe672=)
n.3817T>C
n.3821T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1047894T>GCA337852009AGRNc.3750T>G (p.Phe1250Leu)
c.3435T>G (p.Phe1145Leu)
c.3336T>G (p.Phe1112Leu)
c.2877T>G (p.Phe959Leu)
c.2016T>G (p.Phe672Leu)
n.3817T>G
n.3821T>G
 dbSNP gnomAD v2 gnomAD v4
1g.1047894T=CA1141641107AGRNc.3750T= (p.Phe1250=)
c.3435T= (p.Phe1145=)
c.3336T= (p.Phe1112=)
c.2877T= (p.Phe959=)
c.2016T= (p.Phe672=)
n.3817T=
n.3821T=
1g.1047895G>ACA337852017AGRNc.3751G>A (p.Asp1251Asn)
c.3436G>A (p.Asp1146Asn)
c.3337G>A (p.Asp1113Asn)
c.2878G>A (p.Asp960Asn)
c.2017G>A (p.Asp673Asn)
n.3818G>A
n.3822G>A
1g.1047895G>CCA337852014AGRNc.3751G>C (p.Asp1251His)
c.3436G>C (p.Asp1146His)
c.3337G>C (p.Asp1113His)
c.2878G>C (p.Asp960His)
c.2017G>C (p.Asp673His)
n.3818G>C
n.3822G>C
 dbSNP gnomAD v2
1g.1047895G=CA1148802636AGRNc.3751G= (p.Asp1251=)
c.3436G= (p.Asp1146=)
c.3337G= (p.Asp1113=)
c.2878G= (p.Asp960=)
c.2017G= (p.Asp673=)
n.3818G=
n.3822G=
1g.1047895G>TCA337852011AGRNc.3751G>T (p.Asp1251Tyr)
c.3436G>T (p.Asp1146Tyr)
c.3337G>T (p.Asp1113Tyr)
c.2878G>T (p.Asp960Tyr)
c.2017G>T (p.Asp673Tyr)
n.3818G>T
n.3822G>T
1g.1047896_1048011delCA2742134874AGRNc.3751+1_3752-1del
c.3436+1_3437-1del
c.3337+1_3338-1del
c.2878+1_2879-1del
c.2017+1_2018-1del
n.3818+1_3819-1del
n.3822+1_3823-1del
1g.1047896G>ACA337852021AGRNc.3751+1G>A (n.3751+1G>A)
c.3436+1G>A (n.3436+1G>A)
c.3337+1G>A (n.3337+1G>A)
c.2878+1G>A (n.2878+1G>A)
c.2017+1G>A (n.2017+1G>A)
n.3818+1G>A
n.3822+1G>A
1g.1047896G>CCA337852022AGRNc.3751+1G>C (n.3751+1G>C)
c.3436+1G>C (n.3436+1G>C)
c.3337+1G>C (n.3337+1G>C)
c.2878+1G>C (n.2878+1G>C)
c.2017+1G>C (n.2017+1G>C)
n.3818+1G>C
n.3822+1G>C
1g.1047896G>TCA337852027AGRNc.3751+1G>T (n.3751+1G>T)
c.3436+1G>T (n.3436+1G>T)
c.3337+1G>T (n.3337+1G>T)
c.2878+1G>T (n.2878+1G>T)
c.2017+1G>T (n.2017+1G>T)
n.3818+1G>T
n.3822+1G>T

Number of alleles fetched