Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.1047832T>A | CA337851412 | AGRN | c.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 | |
1 | g.1047832T>C | CA337851415 | AGRN | c.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 | |
1 | g.1047832T>G | CA337851413 | AGRN | c.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 | |
1 | g.1047833C>A | CA337851416 | AGRN | c.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 | |
1 | g.1047833C= | CA1148802034 | AGRN | c.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= | |
1 | g.1047833C>G | CA337851418 | AGRN | c.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 |
1 | g.1047833C>T | CA509188 | AGRN | c.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 |
1 | g.1047834C>A | CA415757946 | AGRN | c.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 |
1 | g.1047834C= | CA1148802037 | AGRN | c.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= | |
1 | g.1047834C>G | CA415757948 | AGRN | c.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 | |
1 | g.1047834C>T | CA415757949 | AGRN | c.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 |
1 | g.1047835A>C | CA415757952 | AGRN | c.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 | |
1 | g.1047835A>G | CA337851420 | AGRN | c.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 |
1 | g.1047835A>T | CA337851421 | AGRN | c.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 | |
1 | g.1047836G>A | CA337851424 | AGRN | c.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 | |
1 | g.1047836G>C | CA337851431 | AGRN | c.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 | |
1 | g.1047836G>T | CA337851432 | AGRN | c.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 | |
1 | g.1047837G>A | CA415757956 | AGRN | c.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 |
1 | g.1047837G>C | CA337851436 | AGRN | c.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 | |
1 | g.1047837G= | CA1148802047 | AGRN | c.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= | |
1 | g.1047837G>T | CA337851437 | AGRN | c.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 | |
1 | g.1047838C>A | CA337851438 | AGRN | c.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 |
1 | g.1047838C= | CA1148802054 | AGRN | c.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= | |
1 | g.1047838C>G | CA337851439 | AGRN | c.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 | |
1 | g.1047838C>T | CA509189 | AGRN | c.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 |
1 | g.1047839G>A | CA509190 | AGRN | c.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 |
1 | g.1047839G>C | CA337851448 | AGRN | c.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 | |
1 | g.1047839G= | CA1148347651 | AGRN | c.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= | |
1 | g.1047839G>T | CA509191 | AGRN | c.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 |
1 | g.1047840C>A | CA415757965 | AGRN | c.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 | |
1 | g.1047840C>G | CA415757966 | AGRN | c.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 | |
1 | g.1047840C>T | CA415757969 | AGRN | c.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 | |
1 | g.1047841C>A | CA415757974 | AGRN | c.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 |
1 | g.1047841C= | CA1142192045 | AGRN | c.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= | |
1 | g.1047841C>G | CA337851450 | AGRN | c.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 |
1 | g.1047841C>T | CA509192 | AGRN | c.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 |
1 | g.1047842G>A | CA509193 | AGRN | c.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 |
1 | g.1047842G>C | CA337851453 | AGRN | c.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 |
1 | g.1047842G= | CA1148296628 | AGRN | c.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= | |
1 | g.1047842G>T | CA337851455 | AGRN | c.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 |
1 | g.1047843G>A | CA415757983 | AGRN | c.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 | |
1 | g.1047843G>C | CA415757985 | AGRN | c.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 | |
1 | g.1047843G>T | CA415757991 | AGRN | c.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 | |
1 | g.1047844T>A | CA337851459 | AGRN | c.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 | |
1 | g.1047844T>C | CA337851467 | AGRN | c.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 | |
1 | g.1047844T>G | CA337851468 | AGRN | c.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 | |
1 | g.1047845C>A | CA337851471 | AGRN | c.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 | |
1 | g.1047845C= | CA1148802077 | AGRN | c.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= | |
1 | g.1047845C>G | CA337851479 | AGRN | c.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 | |
1 | g.1047845C>T | CA337851483 | AGRN | c.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 |
1 | g.1047846C>A | CA415758003 | AGRN | c.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 | |
1 | g.1047846C= | CA1148802102 | AGRN | c.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= | |
1 | g.1047846C>G | CA415757999 | AGRN | c.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 |
1 | g.1047846C>T | CA415758001 | AGRN | c.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 |
1 | g.1047847T>A | CA337851491 | AGRN | c.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 |
1 | g.1047847T>C | CA415758005 | AGRN | c.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 | |
1 | g.1047847T>G | CA337851493 | AGRN | c.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 | |
1 | g.1047848T>A | CA337851497 | AGRN | c.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 | |
1 | g.1047848T>C | CA337851498 | AGRN | c.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 |
1 | g.1047848T>G | CA337851499 | AGRN | c.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 | |
1 | g.1047848T= | CA1148802107 | AGRN | c.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= | |
1 | g.1047849G>A | CA415758017 | AGRN | c.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 |
1 | g.1047849G>C | CA337851500 | AGRN | c.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 |
1 | g.1047849G= | CA1148802110 | AGRN | c.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= | |
1 | g.1047849G>T | CA337851518 | AGRN | c.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 |
1 | g.1047853del | CA2642491942 | AGRN | c.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 |
1 | g.1047850G>A | CA337851520 | AGRN | c.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 |
1 | g.1047850G>C | CA337851527 | AGRN | c.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 |
1 | g.1047850G>T | CA337851531 | AGRN | c.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 |
1 | g.1047851G>A | CA337851532 | AGRN | c.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 |
1 | g.1047851G>C | CA337851537 | AGRN | c.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 | |
1 | g.1047851G>T | CA337851541 | AGRN | c.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 | |
1 | g.1047852G>A | CA509194 | AGRN | c.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 |
1 | g.1047852G>C | CA415758033 | AGRN | c.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 |
1 | g.1047852G= | CA1148802133 | AGRN | c.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= | |
1 | g.1047852G>T | CA415758034 | AGRN | c.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 |
1 | g.1047853G>A | CA337851565 | AGRN | c.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 |
1 | g.1047853G>C | CA337851562 | AGRN | c.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 | |
1 | g.1047853G= | CA1148802136 | AGRN | c.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= | |
1 | g.1047853G>T | CA337851550 | AGRN | c.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 |
1 | g.1047854T>A | CA337851569 | AGRN | c.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 | |
1 | g.1047854T>C | CA337851584 | AGRN | c.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 | |
1 | g.1047854T>G | CA337851575 | AGRN | c.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 | |
1 | g.1047855G>A | CA415758041 | AGRN | c.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 | |
1 | g.1047855G>C | CA415758042 | AGRN | c.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 | |
1 | g.1047855G>T | CA415758044 | AGRN | c.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 | |
1 | g.1047856A>C | CA415758046 | AGRN | c.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 | |
1 | g.1047856A>G | CA337851586 | AGRN | c.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 |
1 | g.1047856A>T | CA337851590 | AGRN | c.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 | |
1 | g.1047857G>A | CA337851594 | AGRN | c.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 | |
1 | g.1047857G>C | CA337851598 | AGRN | c.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 | |
1 | g.1047857G>T | CA337851599 | AGRN | c.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 |
1 | g.1047858G>A | CA415758056 | AGRN | c.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 | |
1 | g.1047858G>C | CA337851605 | AGRN | c.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 | |
1 | g.1047858G>T | CA337851618 | AGRN | c.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 | |
1 | g.1047859C>A | CA415758057 | AGRN | c.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 | |
1 | g.1047859C= | CA1147578770 | AGRN | c.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= | |
1 | g.1047859C>G | CA337851620 | AGRN | c.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 | |
1 | g.1047859C>T | CA509195 | AGRN | c.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 |
1 | g.1047860G>A | CA509196 | AGRN | c.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 |
1 | g.1047860G>C | CA337851630 | AGRN | c.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 | |
1 | g.1047860G= | CA1148802144 | AGRN | c.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= | |
1 | g.1047860G>T | CA337851634 | AGRN | c.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 | |
1 | g.1047861G>A | CA415758069 | AGRN | c.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 |
1 | g.1047861G>C | CA415758073 | AGRN | c.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 | |
1 | g.1047861G= | CA1148802150 | AGRN | c.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= | |
1 | g.1047861G>T | CA415758075 | AGRN | c.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 |
1 | g.1047862C>A | CA337851636 | AGRN | c.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 |
1 | g.1047862C= | CA1148802168 | AGRN | c.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= | |
1 | g.1047862C>G | CA337851645 | AGRN | c.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 | |
1 | g.1047862C>T | CA509197 | AGRN | c.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 |
1 | g.1047863dup | CA1148802158 | AGRN | c.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 |
1 | g.1047863C>A | CA337851669 | AGRN | c.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 |
1 | g.1047863C= | CA1141878271 | AGRN | c.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= | |
1 | g.1047863C>G | CA337851653 | AGRN | c.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 | |
1 | g.1047863C>T | CA509198 | AGRN | c.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 |
1 | g.1047864G>A | CA509199 | AGRN | c.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 |
1 | g.1047864G>C | CA415758082 | AGRN | c.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 | |
1 | g.1047864G= | CA1146037013 | AGRN | c.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= | |
1 | g.1047864G>T | CA415758083 | AGRN | c.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 |
1 | g.1047865C>A | CA509200 | AGRN | c.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 |
1 | g.1047865C= | CA1143531889 | AGRN | c.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= | |
1 | g.1047865C>G | CA337851690 | AGRN | c.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 | |
1 | g.1047865C>T | CA415758089 | AGRN | c.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 |
1 | g.1047866T>A | CA337851695 | AGRN | c.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 | |
1 | g.1047866T>C | CA337851699 | AGRN | c.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 | |
1 | g.1047866T>G | CA337851702 | AGRN | c.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 | |
1 | g.1047867G>A | CA16759952 | AGRN | c.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 |
1 | g.1047867G>C | CA415758094 | AGRN | c.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 | |
1 | g.1047867G= | CA1148802205 | AGRN | c.3723G= (p.Leu1241=) c.3408G= (p.Leu1136=) c.3309G= (p.Leu1103=) c.2850G= (p.Leu950=) c.1989G= (p.Leu663=) n.3790G= n.3794G= | |
1 | g.1047867G>T | CA415758093 | AGRN | c.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 | |
1 | g.1047868C>A | CA337851704 | AGRN | c.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 | |
1 | g.1047868C>G | CA337851708 | AGRN | c.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 | |
1 | g.1047868C>T | CA337851711 | AGRN | c.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 |
1 | g.1047869A>C | CA337851714 | AGRN | c.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 | |
1 | g.1047869A>G | CA337851735 | AGRN | c.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 |
1 | g.1047869A>T | CA337851740 | AGRN | c.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 | |
1 | g.1047870G>A | CA415758108 | AGRN | c.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 |
1 | g.1047870G>C | CA337851745 | AGRN | c.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 |
1 | g.1047870G= | CA1148802227 | AGRN | c.3726G= (p.Gln1242=) c.3411G= (p.Gln1137=) c.3312G= (p.Gln1104=) c.2853G= (p.Gln951=) c.1992G= (p.Gln664=) n.3793G= n.3797G= | |
1 | g.1047870G>T | CA337851748 | AGRN | c.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 | |
1 | g.1047871G>A | CA509201 | AGRN | c.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 |
1 | g.1047871G>C | CA337851755 | AGRN | c.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 | |
1 | g.1047871G= | CA1148802240 | AGRN | c.3727G= (p.Glu1243=) c.3412G= (p.Glu1138=) c.3313G= (p.Glu1105=) c.2854G= (p.Glu952=) c.1993G= (p.Glu665=) n.3794G= n.3798G= | |
1 | g.1047871G>T | CA337851752 | AGRN | c.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 | |
1 | g.1047872A>C | CA337851759 | AGRN | c.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 | |
1 | g.1047872A>G | CA337851760 | AGRN | c.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 | |
1 | g.1047872A>T | CA337851761 | AGRN | c.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 | |
1 | g.1047873G>A | CA415758117 | AGRN | c.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 | |
1 | g.1047873G>C | CA337851776 | AGRN | c.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 | |
1 | g.1047873G>T | CA337851778 | AGRN | c.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 |
1 | g.1047874C>A | CA337851785 | AGRN | c.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 | |
1 | g.1047874C>G | CA337851783 | AGRN | c.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 | |
1 | g.1047874C>T | CA337851782 | AGRN | c.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 |
1 | g.1047875A= | CA1148802250 | AGRN | c.3731A= (p.His1244=) c.3416A= (p.His1139=) c.3317A= (p.His1106=) c.2858A= (p.His953=) c.1997A= (p.His666=) n.3798A= n.3802A= | |
1 | g.1047875A>C | CA337851789 | AGRN | c.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 | |
1 | g.1047875A>G | CA509202 | AGRN | c.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 |
1 | g.1047875A>T | CA337851807 | AGRN | c.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 | |
1 | g.1047876C>A | CA337851812 | AGRN | c.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 | |
1 | g.1047876C= | CA1144950190 | AGRN | c.3732C= (p.His1244=) c.3417C= (p.His1139=) c.3318C= (p.His1106=) c.2859C= (p.His953=) c.1998C= (p.His666=) n.3799C= n.3803C= | |
1 | g.1047876C>G | CA337851822 | AGRN | c.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 | |
1 | g.1047876C>T | CA209732 | AGRN | c.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 |
1 | g.1047877G>A | CA509203 | AGRN | c.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 |
1 | g.1047877G>C | CA337851836 | AGRN | c.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 | |
1 | g.1047877G= | CA1148802269 | AGRN | c.3733G= (p.Val1245=) c.3418G= (p.Val1140=) c.3319G= (p.Val1107=) c.2860G= (p.Val954=) c.1999G= (p.Val667=) n.3800G= n.3804G= | |
1 | g.1047877G>T | CA337851833 | AGRN | c.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 | |
1 | g.1047878T>A | CA337851851 | AGRN | c.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 |
1 | g.1047878T>C | CA337851854 | AGRN | c.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 | |
1 | g.1047878T>G | CA337851858 | AGRN | c.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 | |
1 | g.1047879G>A | CA415758131 | AGRN | c.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 |
1 | g.1047879G>C | CA415758132 | AGRN | c.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 | |
1 | g.1047879G>T | CA415758134 | AGRN | c.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 | |
1 | g.1047880C>A | CA415758140 | AGRN | c.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 |
1 | g.1047880C= | CA1148802280 | AGRN | c.3736C= (p.Arg1246=) c.3421C= (p.Arg1141=) c.3322C= (p.Arg1108=) c.2863C= (p.Arg955=) c.2002C= (p.Arg668=) n.3803C= n.3807C= | |
1 | g.1047880C>G | CA337851861 | AGRN | c.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 |
1 | g.1047880C>T | CA337851865 | AGRN | c.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 |
1 | g.1047881G>A | CA16760000 | AGRN | c.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 |
1 | g.1047881G>C | CA337851871 | AGRN | c.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 | |
1 | g.1047881G= | CA1148802309 | AGRN | c.3737G= (p.Arg1246=) c.3422G= (p.Arg1141=) c.3323G= (p.Arg1108=) c.2864G= (p.Arg955=) c.2003G= (p.Arg668=) n.3804G= n.3808G= | |
1 | g.1047881G>T | CA337851875 | AGRN | c.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 | |
1 | g.1047882A= | CA1148802316 | AGRN | c.3738A= (p.Arg1246=) c.3423A= (p.Arg1141=) c.3324A= (p.Arg1108=) c.2865A= (p.Arg955=) c.2004A= (p.Arg668=) n.3805A= n.3809A= | |
1 | g.1047882A>C | CA415758154 | AGRN | c.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 | |
1 | g.1047882A>G | CA415758152 | AGRN | c.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 |
1 | g.1047882A>T | CA415758150 | AGRN | c.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 | |
1 | g.1047883T>A | CA337851877 | AGRN | c.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 | |
1 | g.1047883T>C | CA337851879 | AGRN | c.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 | |
1 | g.1047883T>G | CA509204 | AGRN | c.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 |
1 | g.1047883T= | CA1148802327 | AGRN | c.3739T= (p.Phe1247=) c.3424T= (p.Phe1142=) c.3325T= (p.Phe1109=) c.2866T= (p.Phe956=) c.2005T= (p.Phe669=) n.3806T= n.3810T= | |
1 | g.1047884T>A | CA337851885 | AGRN | c.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 | |
1 | g.1047884T>C | CA16760010 | AGRN | c.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 |
1 | g.1047884T>G | CA337851888 | AGRN | c.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 |
1 | g.1047884T= | CA1148802619 | AGRN | c.3740T= (p.Phe1247=) c.3425T= (p.Phe1142=) c.3326T= (p.Phe1109=) c.2867T= (p.Phe956=) c.2006T= (p.Phe669=) n.3807T= n.3811T= | |
1 | g.1047885T>A | CA337851894 | AGRN | c.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 | |
1 | g.1047885T>C | CA415758166 | AGRN | c.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 | |
1 | g.1047885T>G | CA337851898 | AGRN | c.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 | |
1 | g.1047886A>C | CA337851899 | AGRN | c.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 | |
1 | g.1047886A>G | CA337851900 | AGRN | c.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 | |
1 | g.1047886A>T | CA337851908 | AGRN | c.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 |
1 | g.1047887T>A | CA337851921 | AGRN | c.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 | |
1 | g.1047887T>C | CA337851923 | AGRN | c.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 |
1 | g.1047887T>G | CA337851928 | AGRN | c.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 | |
1 | g.1047887T= | CA1148802625 | AGRN | c.3743T= (p.Met1248=) c.3428T= (p.Met1143=) c.3329T= (p.Met1110=) c.2870T= (p.Met957=) c.2009T= (p.Met670=) n.3810T= n.3814T= | |
1 | g.1047888G>A | CA337851932 | AGRN | c.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 | |
1 | g.1047888G>C | CA337851935 | AGRN | c.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 | |
1 | g.1047888G>T | CA337851939 | AGRN | c.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 |
1 | g.1047889G>A | CA337851940 | AGRN | c.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 | |
1 | g.1047889G>C | CA337851942 | AGRN | c.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 | |
1 | g.1047889G>T | CA337851943 | AGRN | c.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 |
1 | g.1047890A= | CA1148802626 | AGRN | c.3746A= (p.Asp1249=) c.3431A= (p.Asp1144=) c.3332A= (p.Asp1111=) c.2873A= (p.Asp958=) c.2012A= (p.Asp671=) n.3813A= n.3817A= | |
1 | g.1047890A>C | CA337851952 | AGRN | c.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 | |
1 | g.1047890A>G | CA16760014 | AGRN | c.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 |
1 | g.1047890A>T | CA337851951 | AGRN | c.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 | |
1 | g.1047891C>A | CA337851954 | AGRN | c.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 | |
1 | g.1047891C= | CA1148802627 | AGRN | c.3747C= (p.Asp1249=) c.3432C= (p.Asp1144=) c.3333C= (p.Asp1111=) c.2874C= (p.Asp958=) c.2013C= (p.Asp671=) n.3814C= n.3818C= | |
1 | g.1047891C>G | CA509205 | AGRN | c.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 |
1 | g.1047891C>T | CA415758186 | AGRN | c.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 | |
1 | g.1047891_1047892delinsCT | CA1148802628 | AGRN | c.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 | |
1 | g.1047892T>A | CA337851959 | AGRN | c.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 | |
1 | g.1047892T>C | CA337851969 | AGRN | c.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 | |
1 | g.1047892T>G | CA337851979 | AGRN | c.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 |
1 | g.1047892T= | CA1148802631 | AGRN | c.3748T= (p.Phe1250=) c.3433T= (p.Phe1145=) c.3334T= (p.Phe1112=) c.2875T= (p.Phe959=) c.2014T= (p.Phe672=) n.3815T= n.3819T= | |
1 | g.1047894del | CA884897835 | AGRN | c.3750del (p.Phe1250LeufsTer?) c.3435del (p.Phe1145LeufsTer?) c.3336del (p.Phe1112LeufsTer?) c.2877del (p.Phe959LeufsTer?) c.2016del (p.Phe672LeufsTer?) n.3817del n.3821del | dbSNP |
1 | g.1047893T>A | CA337851980 | AGRN | c.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 | |
1 | g.1047893T>C | CA337851984 | AGRN | c.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 | |
1 | g.1047893T>G | CA337851995 | AGRN | c.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 |
1 | g.1047894T>A | CA337852002 | AGRN | c.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 | |
1 | g.1047894T>C | CA509206 | AGRN | c.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 |
1 | g.1047894T>G | CA337852009 | AGRN | c.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 |
1 | g.1047894T= | CA1141641107 | AGRN | c.3750T= (p.Phe1250=) c.3435T= (p.Phe1145=) c.3336T= (p.Phe1112=) c.2877T= (p.Phe959=) c.2016T= (p.Phe672=) n.3817T= n.3821T= | |
1 | g.1047895G>A | CA337852017 | AGRN | c.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 | |
1 | g.1047895G>C | CA337852014 | AGRN | c.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 |
1 | g.1047895G= | CA1148802636 | AGRN | c.3751G= (p.Asp1251=) c.3436G= (p.Asp1146=) c.3337G= (p.Asp1113=) c.2878G= (p.Asp960=) c.2017G= (p.Asp673=) n.3818G= n.3822G= | |
1 | g.1047895G>T | CA337852011 | AGRN | c.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 | |
1 | g.1047896_1048011del | CA2742134874 | AGRN | c.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 | |
1 | g.1047896G>A | CA337852021 | AGRN | c.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 | |
1 | g.1047896G>C | CA337852022 | AGRN | c.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 | |
1 | g.1047896G>T | CA337852027 | AGRN | c.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 | |
1 | g.1047897T>A | CA337852029 | AGRN | c.3751+2T>A (n.3751+2T>A) c.3436+2T>A (n.3436+2T>A) c.3337+2T>A (n.3337+2T>A) c.2878+2T>A (n.2878+2T>A) c.2017+2T>A (n.2017+2T>A) n.3818+2T>A n.3822+2T>A | |
1 | g.1047897T>C | CA337852033 | AGRN | c.3751+2T>C (n.3751+2T>C) c.3436+2T>C (n.3436+2T>C) c.3337+2T>C (n.3337+2T>C) c.2878+2T>C (n.2878+2T>C) c.2017+2T>C (n.2017+2T>C) n.3818+2T>C n.3822+2T>C | |
1 | g.1047897T>G | CA337852036 | AGRN | c.3751+2T>G (n.3751+2T>G) c.3436+2T>G (n.3436+2T>G) c.3337+2T>G (n.3337+2T>G) c.2878+2T>G (n.2878+2T>G) c.2017+2T>G (n.2017+2T>G) n.3818+2T>G n.3822+2T>G | |
1 | g.1047898G>A | CA2642491946 | AGRN | c.3751+3G>A (n.3751+3G>A) c.3436+3G>A (n.3436+3G>A) c.3337+3G>A (n.3337+3G>A) c.2878+3G>A (n.2878+3G>A) c.2017+3G>A (n.2017+3G>A) n.3818+3G>A n.3822+3G>A | gnomAD v4 |
1 | g.1047898G>T | CA2574258693 | AGRN | c.3751+3G>T (n.3751+3G>T) c.3436+3G>T (n.3436+3G>T) c.3337+3G>T (n.3337+3G>T) c.2878+3G>T (n.2878+3G>T) c.2017+3G>T (n.2017+3G>T) n.3818+3G>T n.3822+3G>T | |
1 | g.1047900G>A | CA997654767 | AGRN | c.3751+5G>A (n.3751+5G>A) c.3436+5G>A (n.3436+5G>A) c.3337+5G>A (n.3337+5G>A) c.2878+5G>A (n.2878+5G>A) c.2017+5G>A (n.2017+5G>A) n.3818+5G>A n.3822+5G>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.1047900G= | CA1148802639 | AGRN | c.3751+5G= (n.3751+5G=) c.3436+5G= (n.3436+5G=) c.3337+5G= (n.3337+5G=) c.2878+5G= (n.2878+5G=) c.2017+5G= (n.2017+5G=) n.3818+5G= n.3822+5G= | |
1 | g.1047901C>A | CA520659112 | AGRN | c.3751+6C>A (n.3751+6C>A) c.3436+6C>A (n.3436+6C>A) c.3337+6C>A (n.3337+6C>A) c.2878+6C>A (n.2878+6C>A) c.2017+6C>A (n.2017+6C>A) n.3818+6C>A n.3822+6C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1047901C= | CA1148802673 | AGRN | c.3751+6C= (n.3751+6C=) c.3436+6C= (n.3436+6C=) c.3337+6C= (n.3337+6C=) c.2878+6C= (n.2878+6C=) c.2017+6C= (n.2017+6C=) n.3818+6C= n.3822+6C= | |
1 | g.1047901C>T | CA509207 | AGRN | c.3751+6C>T (n.3751+6C>T) c.3436+6C>T (n.3436+6C>T) c.3337+6C>T (n.3337+6C>T) c.2878+6C>T (n.2878+6C>T) c.2017+6C>T (n.2017+6C>T) n.3818+6C>T n.3822+6C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.1047901dup | CA2642491948 | AGRN | c.3751+6dup (n.3751+6dup) c.3436+6dup (n.3436+6dup) c.3337+6dup (n.3337+6dup) c.2878+6dup (n.2878+6dup) c.2017+6dup (n.2017+6dup) n.3818+6dup n.3822+6dup | gnomAD v4 |
1 | g.1047902G>A | CA16760021 | AGRN | c.3751+7G>A (n.3751+7G>A) c.3436+7G>A (n.3436+7G>A) c.3337+7G>A (n.3337+7G>A) c.2878+7G>A (n.2878+7G>A) c.2017+7G>A (n.2017+7G>A) n.3818+7G>A n.3822+7G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1047902G>C | CA509208 | AGRN | c.3751+7G>C (n.3751+7G>C) c.3436+7G>C (n.3436+7G>C) c.3337+7G>C (n.3337+7G>C) c.2878+7G>C (n.2878+7G>C) c.2017+7G>C (n.2017+7G>C) n.3818+7G>C n.3822+7G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1047902G= | CA1148802692 | AGRN | c.3751+7G= (n.3751+7G=) c.3436+7G= (n.3436+7G=) c.3337+7G= (n.3337+7G=) c.2878+7G= (n.2878+7G=) c.2017+7G= (n.2017+7G=) n.3818+7G= n.3822+7G= | |
1 | g.1047902G>T | CA509209 | AGRN | c.3751+7G>T (n.3751+7G>T) c.3436+7G>T (n.3436+7G>T) c.3337+7G>T (n.3337+7G>T) c.2878+7G>T (n.2878+7G>T) c.2017+7G>T (n.2017+7G>T) n.3818+7G>T n.3822+7G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1047903C= | CA1148802703 | AGRN | c.3751+8C= (n.3751+8C=) c.3436+8C= (n.3436+8C=) c.3337+8C= (n.3337+8C=) c.2878+8C= (n.2878+8C=) c.2017+8C= (n.2017+8C=) n.3818+8C= n.3822+8C= | |
1 | g.1047903C>T | CA1148802705 | AGRN | c.3751+8C>T (n.3751+8C>T) c.3436+8C>T (n.3436+8C>T) c.3337+8C>T (n.3337+8C>T) c.2878+8C>T (n.2878+8C>T) c.2017+8C>T (n.2017+8C>T) n.3818+8C>T n.3822+8C>T | dbSNP gnomAD v4 |
1 | g.1047905A>G | CA2642491951 | AGRN | c.3751+10A>G (n.3751+10A>G) c.3436+10A>G (n.3436+10A>G) c.3337+10A>G (n.3337+10A>G) c.2878+10A>G (n.2878+10A>G) c.2017+10A>G (n.2017+10A>G) n.3818+10A>G n.3822+10A>G | ClinVar gnomAD v4 |
1 | g.1047906G>A | CA2742134875 | AGRN | c.3751+11G>A (n.3751+11G>A) c.3436+11G>A (n.3436+11G>A) c.3337+11G>A (n.3337+11G>A) c.2878+11G>A (n.2878+11G>A) c.2017+11G>A (n.2017+11G>A) n.3818+11G>A n.3822+11G>A | |
1 | g.1047906G>C | CA2574258694 | AGRN | c.3751+11G>C (n.3751+11G>C) c.3436+11G>C (n.3436+11G>C) c.3337+11G>C (n.3337+11G>C) c.2878+11G>C (n.2878+11G>C) c.2017+11G>C (n.2017+11G>C) n.3818+11G>C n.3822+11G>C | gnomAD v4 |
1 | g.1047907G>A | CA509210 | AGRN | c.3751+12G>A (n.3751+12G>A) c.3436+12G>A (n.3436+12G>A) c.3337+12G>A (n.3337+12G>A) c.2878+12G>A (n.2878+12G>A) c.2017+12G>A (n.2017+12G>A) n.3818+12G>A n.3822+12G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1047907G= | CA1148802716 | AGRN | c.3751+12G= (n.3751+12G=) c.3436+12G= (n.3436+12G=) c.3337+12G= (n.3337+12G=) c.2878+12G= (n.2878+12G=) c.2017+12G= (n.2017+12G=) n.3818+12G= n.3822+12G= | |
1 | g.1047909C>A | CA2642491952 | AGRN | c.3751+14C>A (n.3751+14C>A) c.3436+14C>A (n.3436+14C>A) c.3337+14C>A (n.3337+14C>A) c.2878+14C>A (n.2878+14C>A) c.2017+14C>A (n.2017+14C>A) n.3818+14C>A n.3822+14C>A | gnomAD v4 |
1 | g.1047909C>T | CA2642491953 | AGRN | c.3751+14C>T (n.3751+14C>T) c.3436+14C>T (n.3436+14C>T) c.3337+14C>T (n.3337+14C>T) c.2878+14C>T (n.2878+14C>T) c.2017+14C>T (n.2017+14C>T) n.3818+14C>T n.3822+14C>T | gnomAD v4 |
1 | g.1047910A= | CA1148802732 | AGRN | c.3751+15A= (n.3751+15A=) c.3436+15A= (n.3436+15A=) c.3337+15A= (n.3337+15A=) c.2878+15A= (n.2878+15A=) c.2017+15A= (n.2017+15A=) n.3818+15A= n.3822+15A= | |
1 | g.1047910A>C | CA2642491954 | AGRN | c.3751+15A>C (n.3751+15A>C) c.3436+15A>C (n.3436+15A>C) c.3337+15A>C (n.3337+15A>C) c.2878+15A>C (n.2878+15A>C) c.2017+15A>C (n.2017+15A>C) n.3818+15A>C n.3822+15A>C | gnomAD v4 |
1 | g.1047910A>G | CA509211 | AGRN | c.3751+15A>G (n.3751+15A>G) c.3436+15A>G (n.3436+15A>G) c.3337+15A>G (n.3337+15A>G) c.2878+15A>G (n.2878+15A>G) c.2017+15A>G (n.2017+15A>G) n.3818+15A>G n.3822+15A>G | dbSNP ExAC gnomAD v4 |
1 | g.1047911C>A | CA2642491955 | AGRN | c.3751+16C>A (n.3751+16C>A) c.3436+16C>A (n.3436+16C>A) c.3337+16C>A (n.3337+16C>A) c.2878+16C>A (n.2878+16C>A) c.2017+16C>A (n.2017+16C>A) n.3818+16C>A n.3822+16C>A | gnomAD v4 |
1 | g.1047911C= | CA1148802765 | AGRN | c.3751+16C= (n.3751+16C=) c.3436+16C= (n.3436+16C=) c.3337+16C= (n.3337+16C=) c.2878+16C= (n.2878+16C=) c.2017+16C= (n.2017+16C=) n.3818+16C= n.3822+16C= | |
1 | g.1047911C>G | CA520659113 | AGRN | c.3751+16C>G (n.3751+16C>G) c.3436+16C>G (n.3436+16C>G) c.3337+16C>G (n.3337+16C>G) c.2878+16C>G (n.2878+16C>G) c.2017+16C>G (n.2017+16C>G) n.3818+16C>G n.3822+16C>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.1047911C>T | CA509212 | AGRN | c.3751+16C>T (n.3751+16C>T) c.3436+16C>T (n.3436+16C>T) c.3337+16C>T (n.3337+16C>T) c.2878+16C>T (n.2878+16C>T) c.2017+16C>T (n.2017+16C>T) n.3818+16C>T n.3822+16C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1047912G>A | CA509213 | AGRN | c.3751+17G>A (n.3751+17G>A) c.3436+17G>A (n.3436+17G>A) c.3337+17G>A (n.3337+17G>A) c.2878+17G>A (n.2878+17G>A) c.2017+17G>A (n.2017+17G>A) n.3818+17G>A n.3822+17G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1047912G>C | CA884897863 | AGRN | c.3751+17G>C (n.3751+17G>C) c.3436+17G>C (n.3436+17G>C) c.3337+17G>C (n.3337+17G>C) c.2878+17G>C (n.2878+17G>C) c.2017+17G>C (n.2017+17G>C) n.3818+17G>C n.3822+17G>C | ClinVar dbSNP gnomAD v4 |
1 | g.1047912G= | CA1148802784 | AGRN | c.3751+17G= (n.3751+17G=) c.3436+17G= (n.3436+17G=) c.3337+17G= (n.3337+17G=) c.2878+17G= (n.2878+17G=) c.2017+17G= (n.2017+17G=) n.3818+17G= n.3822+17G= | |
1 | g.1047912G>T | CA2642491957 | AGRN | c.3751+17G>T (n.3751+17G>T) c.3436+17G>T (n.3436+17G>T) c.3337+17G>T (n.3337+17G>T) c.2878+17G>T (n.2878+17G>T) c.2017+17G>T (n.2017+17G>T) n.3818+17G>T n.3822+17G>T | gnomAD v4 |
1 | g.1047913A>G | CA2642491959 | AGRN | c.3751+18A>G (n.3751+18A>G) c.3436+18A>G (n.3436+18A>G) c.3337+18A>G (n.3337+18A>G) c.2878+18A>G (n.2878+18A>G) c.2017+18A>G (n.2017+18A>G) n.3818+18A>G n.3822+18A>G | gnomAD v4 |
1 | g.1047914G>A | CA509214 | AGRN | c.3751+19G>A (n.3751+19G>A) c.3436+19G>A (n.3436+19G>A) c.3337+19G>A (n.3337+19G>A) c.2878+19G>A (n.2878+19G>A) c.2017+19G>A (n.2017+19G>A) n.3818+19G>A n.3822+19G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1047914G= | CA1148802794 | AGRN | c.3751+19G= (n.3751+19G=) c.3436+19G= (n.3436+19G=) c.3337+19G= (n.3337+19G=) c.2878+19G= (n.2878+19G=) c.2017+19G= (n.2017+19G=) n.3818+19G= n.3822+19G= | |
1 | g.1047914G>T | CA2642491961 | AGRN | c.3751+19G>T (n.3751+19G>T) c.3436+19G>T (n.3436+19G>T) c.3337+19G>T (n.3337+19G>T) c.2878+19G>T (n.2878+19G>T) c.2017+19G>T (n.2017+19G>T) n.3818+19G>T n.3822+19G>T | gnomAD v4 |
1 | g.1047915C>A | CA2642491962 | AGRN | c.3751+20C>A (n.3751+20C>A) c.3436+20C>A (n.3436+20C>A) c.3337+20C>A (n.3337+20C>A) c.2878+20C>A (n.2878+20C>A) c.2017+20C>A (n.2017+20C>A) n.3818+20C>A n.3822+20C>A | ClinVar gnomAD v4 |
1 | g.1047915C= | CA1148802820 | AGRN | c.3751+20C= (n.3751+20C=) c.3436+20C= (n.3436+20C=) c.3337+20C= (n.3337+20C=) c.2878+20C= (n.2878+20C=) c.2017+20C= (n.2017+20C=) n.3818+20C= n.3822+20C= | |
1 | g.1047915C>G | CA2642491963 | AGRN | c.3751+20C>G (n.3751+20C>G) c.3436+20C>G (n.3436+20C>G) c.3337+20C>G (n.3337+20C>G) c.2878+20C>G (n.2878+20C>G) c.2017+20C>G (n.2017+20C>G) n.3818+20C>G n.3822+20C>G | gnomAD v4 |
1 | g.1047915C>T | CA1148802823 | AGRN | c.3751+20C>T (n.3751+20C>T) c.3436+20C>T (n.3436+20C>T) c.3337+20C>T (n.3337+20C>T) c.2878+20C>T (n.2878+20C>T) c.2017+20C>T (n.2017+20C>T) n.3818+20C>T n.3822+20C>T | dbSNP gnomAD v4 |
1 | g.1047916C>A | CA2642491964 | AGRN | c.3751+21C>A (n.3751+21C>A) c.3436+21C>A (n.3436+21C>A) c.3337+21C>A (n.3337+21C>A) c.2878+21C>A (n.2878+21C>A) c.2017+21C>A (n.2017+21C>A) n.3818+21C>A n.3822+21C>A | gnomAD v4 |
1 | g.1047916C>T | CA2642491965 | AGRN | c.3751+21C>T (n.3751+21C>T) c.3436+21C>T (n.3436+21C>T) c.3337+21C>T (n.3337+21C>T) c.2878+21C>T (n.2878+21C>T) c.2017+21C>T (n.2017+21C>T) n.3818+21C>T n.3822+21C>T | gnomAD v4 |
1 | g.1047917A>G | CA2642491967 | AGRN | c.3751+22A>G (n.3751+22A>G) c.3436+22A>G (n.3436+22A>G) c.3337+22A>G (n.3337+22A>G) c.2878+22A>G (n.2878+22A>G) c.2017+22A>G (n.2017+22A>G) n.3818+22A>G n.3822+22A>G | gnomAD v4 |
1 | g.1047918C= | CA1143829115 | AGRN | c.3751+23C= (n.3751+23C=) c.3436+23C= (n.3436+23C=) c.3337+23C= (n.3337+23C=) c.2878+23C= (n.2878+23C=) c.2017+23C= (n.2017+23C=) n.3818+23C= n.3822+23C= | |
1 | g.1047918C>T | CA509215 | AGRN | c.3751+23C>T (n.3751+23C>T) c.3436+23C>T (n.3436+23C>T) c.3337+23C>T (n.3337+23C>T) c.2878+23C>T (n.2878+23C>T) c.2017+23C>T (n.2017+23C>T) n.3818+23C>T n.3822+23C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1047920G>A | CA2526814475 | AGRN | c.3751+25G>A (n.3751+25G>A) c.3436+25G>A (n.3436+25G>A) c.3337+25G>A (n.3337+25G>A) c.2878+25G>A (n.2878+25G>A) c.2017+25G>A (n.2017+25G>A) n.3818+25G>A n.3822+25G>A | |
1 | g.1047920G= | CA1148802838 | AGRN | c.3751+25G= (n.3751+25G=) c.3436+25G= (n.3436+25G=) c.3337+25G= (n.3337+25G=) c.2878+25G= (n.2878+25G=) c.2017+25G= (n.2017+25G=) n.3818+25G= n.3822+25G= | |
1 | g.1047920G>T | CA509216 | AGRN | c.3751+25G>T (n.3751+25G>T) c.3436+25G>T (n.3436+25G>T) c.3337+25G>T (n.3337+25G>T) c.2878+25G>T (n.2878+25G>T) c.2017+25G>T (n.2017+25G>T) n.3818+25G>T n.3822+25G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1047921C>A | CA2642491968 | AGRN | c.3751+26C>A (n.3751+26C>A) c.3436+26C>A (n.3436+26C>A) c.3337+26C>A (n.3337+26C>A) c.2878+26C>A (n.2878+26C>A) c.2017+26C>A (n.2017+26C>A) n.3818+26C>A n.3822+26C>A | gnomAD v4 |
1 | g.1047921C>T | CA2642491969 | AGRN | c.3751+26C>T (n.3751+26C>T) c.3436+26C>T (n.3436+26C>T) c.3337+26C>T (n.3337+26C>T) c.2878+26C>T (n.2878+26C>T) c.2017+26C>T (n.2017+26C>T) n.3818+26C>T n.3822+26C>T | gnomAD v4 |
1 | g.1047923T>A | CA2642491971 | AGRN | c.3751+28T>A (n.3751+28T>A) c.3436+28T>A (n.3436+28T>A) c.3337+28T>A (n.3337+28T>A) c.2878+28T>A (n.2878+28T>A) c.2017+28T>A (n.2017+28T>A) n.3818+28T>A n.3822+28T>A | gnomAD v4 |
1 | g.1047923T>C | CA2642491970 | AGRN | c.3751+28T>C (n.3751+28T>C) c.3436+28T>C (n.3436+28T>C) c.3337+28T>C (n.3337+28T>C) c.2878+28T>C (n.2878+28T>C) c.2017+28T>C (n.2017+28T>C) n.3818+28T>C n.3822+28T>C | gnomAD v4 |
1 | g.1047924A= | CA1148802846 | AGRN | c.3751+29A= (n.3751+29A=) c.3436+29A= (n.3436+29A=) c.3337+29A= (n.3337+29A=) c.2878+29A= (n.2878+29A=) c.2017+29A= (n.2017+29A=) n.3818+29A= n.3822+29A= | |
1 | g.1047924A>G | CA884897864 | AGRN | c.3751+29A>G (n.3751+29A>G) c.3436+29A>G (n.3436+29A>G) c.3337+29A>G (n.3337+29A>G) c.2878+29A>G (n.2878+29A>G) c.2017+29A>G (n.2017+29A>G) n.3818+29A>G n.3822+29A>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.1047925C= | CA1148802851 | AGRN | c.3751+30C= (n.3751+30C=) c.3436+30C= (n.3436+30C=) c.3337+30C= (n.3337+30C=) c.2878+30C= (n.2878+30C=) c.2017+30C= (n.2017+30C=) n.3818+30C= n.3822+30C= | |
1 | g.1047925C>T | CA509217 | AGRN | c.3751+30C>T (n.3751+30C>T) c.3436+30C>T (n.3436+30C>T) c.3337+30C>T (n.3337+30C>T) c.2878+30C>T (n.2878+30C>T) c.2017+30C>T (n.2017+30C>T) n.3818+30C>T n.3822+30C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1047933_1047956dup | CA2642491972 | AGRN | c.3751+38_3752-56dup (n.3751+38_3752-56dup) c.3436+38_3437-56dup (n.3436+38_3437-56dup) c.3337+38_3338-56dup (n.3337+38_3338-56dup) c.2878+38_2879-56dup (n.2878+38_2879-56dup) c.2017+38_2018-56dup (n.2017+38_2018-56dup) n.3818+38_3819-56dup n.3822+38_3823-56dup | gnomAD v4 |
1 | g.1047926C= | CA1148802853 | AGRN | c.3751+31C= (n.3751+31C=) c.3436+31C= (n.3436+31C=) c.3337+31C= (n.3337+31C=) c.2878+31C= (n.2878+31C=) c.2017+31C= (n.2017+31C=) n.3818+31C= n.3822+31C= | |
1 | g.1047926C>T | CA1148802861 | AGRN | c.3751+31C>T (n.3751+31C>T) c.3436+31C>T (n.3436+31C>T) c.3337+31C>T (n.3337+31C>T) c.2878+31C>T (n.2878+31C>T) c.2017+31C>T (n.2017+31C>T) n.3818+31C>T n.3822+31C>T | dbSNP gnomAD v4 |
1 | g.1047927T>C | CA520659114 | AGRN | c.3751+32T>C (n.3751+32T>C) c.3436+32T>C (n.3436+32T>C) c.3337+32T>C (n.3337+32T>C) c.2878+32T>C (n.2878+32T>C) c.2017+32T>C (n.2017+32T>C) n.3818+32T>C n.3822+32T>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.1047927T= | CA1148802870 | AGRN | c.3751+32T= (n.3751+32T=) c.3436+32T= (n.3436+32T=) c.3337+32T= (n.3337+32T=) c.2878+32T= (n.2878+32T=) c.2017+32T= (n.2017+32T=) n.3818+32T= n.3822+32T= | |
1 | g.1047928G>A | CA2642491974 | AGRN | c.3751+33G>A (n.3751+33G>A) c.3436+33G>A (n.3436+33G>A) c.3337+33G>A (n.3337+33G>A) c.2878+33G>A (n.2878+33G>A) c.2017+33G>A (n.2017+33G>A) n.3818+33G>A n.3822+33G>A | gnomAD v4 |
1 | g.1047928G= | CA1148802897 | AGRN | c.3751+33G= (n.3751+33G=) c.3436+33G= (n.3436+33G=) c.3337+33G= (n.3337+33G=) c.2878+33G= (n.2878+33G=) c.2017+33G= (n.2017+33G=) n.3818+33G= n.3822+33G= | |
1 | g.1047928G>T | CA2642491975 | AGRN | c.3751+33G>T (n.3751+33G>T) c.3436+33G>T (n.3436+33G>T) c.3337+33G>T (n.3337+33G>T) c.2878+33G>T (n.2878+33G>T) c.2017+33G>T (n.2017+33G>T) n.3818+33G>T n.3822+33G>T | gnomAD v4 |
1 | g.1047929C>A | CA2642491978 | AGRN | c.3751+34C>A (n.3751+34C>A) c.3436+34C>A (n.3436+34C>A) c.3337+34C>A (n.3337+34C>A) c.2878+34C>A (n.2878+34C>A) c.2017+34C>A (n.2017+34C>A) n.3818+34C>A n.3822+34C>A | gnomAD v4 |
1 | g.1047929C= | CA1148802903 | AGRN | c.3751+34C= (n.3751+34C=) c.3436+34C= (n.3436+34C=) c.3337+34C= (n.3337+34C=) c.2878+34C= (n.2878+34C=) c.2017+34C= (n.2017+34C=) n.3818+34C= n.3822+34C= | |
1 | g.1047929C>T | CA520659115 | AGRN | c.3751+34C>T (n.3751+34C>T) c.3436+34C>T (n.3436+34C>T) c.3337+34C>T (n.3337+34C>T) c.2878+34C>T (n.2878+34C>T) c.2017+34C>T (n.2017+34C>T) n.3818+34C>T n.3822+34C>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.1047933dup | CA884897865 | AGRN | c.3751+38dup (n.3751+38dup) c.3436+38dup (n.3436+38dup) c.3337+38dup (n.3337+38dup) c.2878+38dup (n.2878+38dup) c.2017+38dup (n.2017+38dup) n.3818+38dup n.3822+38dup | dbSNP gnomAD v4 |
1 | g.1047933del | CA2642491977 | AGRN | c.3751+38del (n.3751+38del) c.3436+38del (n.3436+38del) c.3337+38del (n.3337+38del) c.2878+38del (n.2878+38del) c.2017+38del (n.2017+38del) n.3818+38del n.3822+38del | gnomAD v4 |
1 | g.1047930C>A | CA2642491980 | AGRN | c.3751+35C>A (n.3751+35C>A) c.3436+35C>A (n.3436+35C>A) c.3337+35C>A (n.3337+35C>A) c.2878+35C>A (n.2878+35C>A) c.2017+35C>A (n.2017+35C>A) n.3818+35C>A n.3822+35C>A | gnomAD v4 |
1 | g.1047930C= | CA1148802910 | AGRN | c.3751+35C= (n.3751+35C=) c.3436+35C= (n.3436+35C=) c.3337+35C= (n.3337+35C=) c.2878+35C= (n.2878+35C=) c.2017+35C= (n.2017+35C=) n.3818+35C= n.3822+35C= | |
1 | g.1047930C>T | CA509218 | AGRN | c.3751+35C>T (n.3751+35C>T) c.3436+35C>T (n.3436+35C>T) c.3337+35C>T (n.3337+35C>T) c.2878+35C>T (n.2878+35C>T) c.2017+35C>T (n.2017+35C>T) n.3818+35C>T n.3822+35C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1047931C= | CA1148802911 | AGRN | c.3751+36C= (n.3751+36C=) c.3436+36C= (n.3436+36C=) c.3337+36C= (n.3337+36C=) c.2878+36C= (n.2878+36C=) c.2017+36C= (n.2017+36C=) n.3818+36C= n.3822+36C= | |
1 | g.1047931C>T | CA884897869 | AGRN | c.3751+36C>T (n.3751+36C>T) c.3436+36C>T (n.3436+36C>T) c.3337+36C>T (n.3337+36C>T) c.2878+36C>T (n.2878+36C>T) c.2017+36C>T (n.2017+36C>T) n.3818+36C>T n.3822+36C>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.1047932C>A | CA2642491981 | AGRN | c.3751+37C>A (n.3751+37C>A) c.3436+37C>A (n.3436+37C>A) c.3337+37C>A (n.3337+37C>A) c.2878+37C>A (n.2878+37C>A) c.2017+37C>A (n.2017+37C>A) n.3818+37C>A n.3822+37C>A | gnomAD v4 |
1 | g.1047932C>T | CA2642491982 | AGRN | c.3751+37C>T (n.3751+37C>T) c.3436+37C>T (n.3436+37C>T) c.3337+37C>T (n.3337+37C>T) c.2878+37C>T (n.2878+37C>T) c.2017+37C>T (n.2017+37C>T) n.3818+37C>T n.3822+37C>T | gnomAD v4 |