Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.1048026T>ACA337852205AGRNc.3766T>A (p.Phe1256Ile)
c.3451T>A (p.Phe1151Ile)
c.3352T>A (p.Phe1118Ile)
c.2893T>A (p.Phe965Ile)
c.2032T>A (p.Phe678Ile)
n.3833T>A
n.3837T>A
1g.1048026T>CCA337852204AGRNc.3766T>C (p.Phe1256Leu)
c.3451T>C (p.Phe1151Leu)
c.3352T>C (p.Phe1118Leu)
c.2893T>C (p.Phe965Leu)
c.2032T>C (p.Phe678Leu)
n.3833T>C
n.3837T>C
1g.1048026T>GCA337852203AGRNc.3766T>G (p.Phe1256Val)
c.3451T>G (p.Phe1151Val)
c.3352T>G (p.Phe1118Val)
c.2893T>G (p.Phe965Val)
c.2032T>G (p.Phe678Val)
n.3833T>G
n.3837T>G
1g.1048028delCA2642492071AGRNc.3768del (p.Phe1256LeufsTer29)
c.3453del (p.Phe1151LeufsTer29)
c.3354del (p.Phe1118LeufsTer29)
c.2895del (p.Phe965LeufsTer29)
c.2034del (p.Phe678LeufsTer29)
n.3835del
n.3839del
 gnomAD v4
1g.1048027T>ACA337852207AGRNc.3767T>A (p.Phe1256Tyr)
c.3452T>A (p.Phe1151Tyr)
c.3353T>A (p.Phe1118Tyr)
c.2894T>A (p.Phe965Tyr)
c.2033T>A (p.Phe678Tyr)
n.3834T>A
n.3838T>A
1g.1048027T>CCA337852209AGRNc.3767T>C (p.Phe1256Ser)
c.3452T>C (p.Phe1151Ser)
c.3353T>C (p.Phe1118Ser)
c.2894T>C (p.Phe965Ser)
c.2033T>C (p.Phe678Ser)
n.3834T>C
n.3838T>C
 gnomAD v4
1g.1048027T>GCA337852213AGRNc.3767T>G (p.Phe1256Cys)
c.3452T>G (p.Phe1151Cys)
c.3353T>G (p.Phe1118Cys)
c.2894T>G (p.Phe965Cys)
c.2033T>G (p.Phe678Cys)
n.3834T>G
n.3838T>G
1g.1048028T>ACA337852217AGRNc.3768T>A (p.Phe1256Leu)
c.3453T>A (p.Phe1151Leu)
c.3354T>A (p.Phe1118Leu)
c.2895T>A (p.Phe965Leu)
c.2034T>A (p.Phe678Leu)
n.3835T>A
n.3839T>A
1g.1048028T>CCA415758293AGRNc.3768T>C (p.Phe1256=)
c.3453T>C (p.Phe1151=)
c.3354T>C (p.Phe1118=)
c.2895T>C (p.Phe965=)
c.2034T>C (p.Phe678=)
n.3835T>C
n.3839T>C
1g.1048028T>GCA337852218AGRNc.3768T>G (p.Phe1256Leu)
c.3453T>G (p.Phe1151Leu)
c.3354T>G (p.Phe1118Leu)
c.2895T>G (p.Phe965Leu)
c.2034T>G (p.Phe678Leu)
n.3835T>G
n.3839T>G
1g.1048029A>CCA337852220AGRNc.3769A>C (p.Ile1257Leu)
c.3454A>C (p.Ile1152Leu)
c.3355A>C (p.Ile1119Leu)
c.2896A>C (p.Ile966Leu)
c.2035A>C (p.Ile679Leu)
n.3836A>C
n.3840A>C
1g.1048029A>GCA337852222AGRNc.3769A>G (p.Ile1257Val)
c.3454A>G (p.Ile1152Val)
c.3355A>G (p.Ile1119Val)
c.2896A>G (p.Ile966Val)
c.2035A>G (p.Ile679Val)
n.3836A>G
n.3840A>G
1g.1048029A>TCA337852223AGRNc.3769A>T (p.Ile1257Phe)
c.3454A>T (p.Ile1152Phe)
c.3355A>T (p.Ile1119Phe)
c.2896A>T (p.Ile966Phe)
c.2035A>T (p.Ile679Phe)
n.3836A>T
n.3840A>T
1g.1048030T>ACA337852225AGRNc.3770T>A (p.Ile1257Asn)
c.3455T>A (p.Ile1152Asn)
c.3356T>A (p.Ile1119Asn)
c.2897T>A (p.Ile966Asn)
c.2036T>A (p.Ile679Asn)
n.3837T>A
n.3841T>A
1g.1048030T>CCA337852226AGRNc.3770T>C (p.Ile1257Thr)
c.3455T>C (p.Ile1152Thr)
c.3356T>C (p.Ile1119Thr)
c.2897T>C (p.Ile966Thr)
c.2036T>C (p.Ile679Thr)
n.3837T>C
n.3841T>C
 gnomAD v4
1g.1048030T>GCA337852227AGRNc.3770T>G (p.Ile1257Ser)
c.3455T>G (p.Ile1152Ser)
c.3356T>G (p.Ile1119Ser)
c.2897T>G (p.Ile966Ser)
c.2036T>G (p.Ile679Ser)
n.3837T>G
n.3841T>G
1g.1048031C>ACA509235AGRNc.3771C>A (p.Ile1257=)
c.3456C>A (p.Ile1152=)
c.3357C>A (p.Ile1119=)
c.2898C>A (p.Ile966=)
c.2037C>A (p.Ile679=)
n.3838C>A
n.3842C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1048031C=CA1148430682AGRNc.3771C= (p.Ile1257=)
c.3456C= (p.Ile1152=)
c.3357C= (p.Ile1119=)
c.2898C= (p.Ile966=)
c.2037C= (p.Ile679=)
n.3838C=
n.3842C=
1g.1048031C>GCA337852228AGRNc.3771C>G (p.Ile1257Met)
c.3456C>G (p.Ile1152Met)
c.3357C>G (p.Ile1119Met)
c.2898C>G (p.Ile966Met)
c.2037C>G (p.Ile679Met)
n.3838C>G
n.3842C>G
1g.1048031C>TCA415758306AGRNc.3771C>T (p.Ile1257=)
c.3456C>T (p.Ile1152=)
c.3357C>T (p.Ile1119=)
c.2898C>T (p.Ile966=)
c.2037C>T (p.Ile679=)
n.3838C>T
n.3842C>T
 dbSNP gnomAD v4
1g.1048032A>CCA337852232AGRNc.3772A>C (p.Thr1258Pro)
c.3457A>C (p.Thr1153Pro)
c.3358A>C (p.Thr1120Pro)
c.2899A>C (p.Thr967Pro)
c.2038A>C (p.Thr680Pro)
n.3839A>C
n.3843A>C
1g.1048032A>GCA337852235AGRNc.3772A>G (p.Thr1258Ala)
c.3457A>G (p.Thr1153Ala)
c.3358A>G (p.Thr1120Ala)
c.2899A>G (p.Thr967Ala)
c.2038A>G (p.Thr680Ala)
n.3839A>G
n.3843A>G
 gnomAD v4
1g.1048032A>TCA337852230AGRNc.3772A>T (p.Thr1258Ser)
c.3457A>T (p.Thr1153Ser)
c.3358A>T (p.Thr1120Ser)
c.2899A>T (p.Thr967Ser)
c.2038A>T (p.Thr680Ser)
n.3839A>T
n.3843A>T
1g.1048033C>ACA337852237AGRNc.3773C>A (p.Thr1258Lys)
c.3458C>A (p.Thr1153Lys)
c.3359C>A (p.Thr1120Lys)
c.2900C>A (p.Thr967Lys)
c.2039C>A (p.Thr680Lys)
n.3840C>A
n.3844C>A
 gnomAD v4
1g.1048033C=CA1141829645AGRNc.3773C= (p.Thr1258=)
c.3458C= (p.Thr1153=)
c.3359C= (p.Thr1120=)
c.2900C= (p.Thr967=)
c.2039C= (p.Thr680=)
n.3840C=
n.3844C=
1g.1048033C>GCA337852242AGRNc.3773C>G (p.Thr1258Arg)
c.3458C>G (p.Thr1153Arg)
c.3359C>G (p.Thr1120Arg)
c.2900C>G (p.Thr967Arg)
c.2039C>G (p.Thr680Arg)
n.3840C>G
n.3844C>G
1g.1048033C>TCA509236AGRNc.3773C>T (p.Thr1258Met)
c.3458C>T (p.Thr1153Met)
c.3359C>T (p.Thr1120Met)
c.2900C>T (p.Thr967Met)
c.2039C>T (p.Thr680Met)
n.3840C>T
n.3844C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048037_1048063delCA2642492074AGRNc.3777_3803del (p.Ala1260_Gly1268del)
c.3462_3488del (p.Ala1155_Gly1163del)
c.3363_3389del (p.Ala1122_Gly1130del)
c.2904_2930del (p.Ala969_Gly977del)
c.2043_2069del (p.Ala682_Gly690del)
n.3844_3870del
n.3848_3874del
 gnomAD v4
1g.1048034G>ACA509237AGRNc.3774G>A (p.Thr1258=)
c.3459G>A (p.Thr1153=)
c.3360G>A (p.Thr1120=)
c.2901G>A (p.Thr967=)
c.2040G>A (p.Thr680=)
n.3841G>A
n.3845G>A
 dbSNP ExAC gnomAD v4
1g.1048034G>CCA415758312AGRNc.3774G>C (p.Thr1258=)
c.3459G>C (p.Thr1153=)
c.3360G>C (p.Thr1120=)
c.2901G>C (p.Thr967=)
c.2040G>C (p.Thr680=)
n.3841G>C
n.3845G>C
 gnomAD v4
1g.1048034G=CA1148803216AGRNc.3774G= (p.Thr1258=)
c.3459G= (p.Thr1153=)
c.3360G= (p.Thr1120=)
c.2901G= (p.Thr967=)
c.2040G= (p.Thr680=)
n.3841G=
n.3845G=
1g.1048034G>TCA415758313AGRNc.3774G>T (p.Thr1258=)
c.3459G>T (p.Thr1153=)
c.3360G>T (p.Thr1120=)
c.2901G>T (p.Thr967=)
c.2040G>T (p.Thr680=)
n.3841G>T
n.3845G>T
 gnomAD v4
1g.1048038delCA2642492075AGRNc.3778del (p.Ala1260ProfsTer25)
c.3463del (p.Ala1155ProfsTer25)
c.3364del (p.Ala1122ProfsTer25)
c.2905del (p.Ala969ProfsTer25)
c.2044del (p.Ala682ProfsTer25)
n.3845del
n.3849del
 gnomAD v4
1g.1048035G>ACA337852254AGRNc.3775G>A (p.Gly1259Arg)
c.3460G>A (p.Gly1154Arg)
c.3361G>A (p.Gly1121Arg)
c.2902G>A (p.Gly968Arg)
c.2041G>A (p.Gly681Arg)
n.3842G>A
n.3846G>A
 gnomAD v4
1g.1048035G>CCA337852256AGRNc.3775G>C (p.Gly1259Arg)
c.3460G>C (p.Gly1154Arg)
c.3361G>C (p.Gly1121Arg)
c.2902G>C (p.Gly968Arg)
c.2041G>C (p.Gly681Arg)
n.3842G>C
n.3846G>C
1g.1048035G>TCA337852257AGRNc.3775G>T (p.Gly1259Trp)
c.3460G>T (p.Gly1154Trp)
c.3361G>T (p.Gly1121Trp)
c.2902G>T (p.Gly968Trp)
c.2041G>T (p.Gly681Trp)
n.3842G>T
n.3846G>T
 gnomAD v4
1g.1048036G>ACA337852258AGRNc.3776G>A (p.Gly1259Glu)
c.3461G>A (p.Gly1154Glu)
c.3362G>A (p.Gly1121Glu)
c.2903G>A (p.Gly968Glu)
c.2042G>A (p.Gly681Glu)
n.3843G>A
n.3847G>A
 dbSNP gnomAD v2
1g.1048036G>CCA337852259AGRNc.3776G>C (p.Gly1259Ala)
c.3461G>C (p.Gly1154Ala)
c.3362G>C (p.Gly1121Ala)
c.2903G>C (p.Gly968Ala)
c.2042G>C (p.Gly681Ala)
n.3843G>C
n.3847G>C
1g.1048036G=CA1148803222AGRNc.3776G= (p.Gly1259=)
c.3461G= (p.Gly1154=)
c.3362G= (p.Gly1121=)
c.2903G= (p.Gly968=)
c.2042G= (p.Gly681=)
n.3843G=
n.3847G=
1g.1048036G>TCA337852260AGRNc.3776G>T (p.Gly1259Val)
c.3461G>T (p.Gly1154Val)
c.3362G>T (p.Gly1121Val)
c.2903G>T (p.Gly968Val)
c.2042G>T (p.Gly681Val)
n.3843G>T
n.3847G>T
 gnomAD v4
1g.1048037G>ACA415758319AGRNc.3777G>A (p.Gly1259=)
c.3462G>A (p.Gly1154=)
c.3363G>A (p.Gly1121=)
c.2904G>A (p.Gly968=)
c.2043G>A (p.Gly681=)
n.3844G>A
n.3848G>A
 gnomAD v4
1g.1048037G>CCA415758320AGRNc.3777G>C (p.Gly1259=)
c.3462G>C (p.Gly1154=)
c.3363G>C (p.Gly1121=)
c.2904G>C (p.Gly968=)
c.2043G>C (p.Gly681=)
n.3844G>C
n.3848G>C
1g.1048037G>TCA415758321AGRNc.3777G>T (p.Gly1259=)
c.3462G>T (p.Gly1154=)
c.3363G>T (p.Gly1121=)
c.2904G>T (p.Gly968=)
c.2043G>T (p.Gly681=)
n.3844G>T
n.3848G>T
 gnomAD v4
1g.1048038G>ACA337852261AGRNc.3778G>A (p.Ala1260Thr)
c.3463G>A (p.Ala1155Thr)
c.3364G>A (p.Ala1122Thr)
c.2905G>A (p.Ala969Thr)
c.2044G>A (p.Ala682Thr)
n.3845G>A
n.3849G>A
 dbSNP gnomAD v4
1g.1048038G>CCA337852262AGRNc.3778G>C (p.Ala1260Pro)
c.3463G>C (p.Ala1155Pro)
c.3364G>C (p.Ala1122Pro)
c.2905G>C (p.Ala969Pro)
c.2044G>C (p.Ala682Pro)
n.3845G>C
n.3849G>C
1g.1048038G=CA1148803233AGRNc.3778G= (p.Ala1260=)
c.3463G= (p.Ala1155=)
c.3364G= (p.Ala1122=)
c.2905G= (p.Ala969=)
c.2044G= (p.Ala682=)
n.3845G=
n.3849G=
1g.1048038G>TCA337852263AGRNc.3778G>T (p.Ala1260Ser)
c.3463G>T (p.Ala1155Ser)
c.3364G>T (p.Ala1122Ser)
c.2905G>T (p.Ala969Ser)
c.2044G>T (p.Ala682Ser)
n.3845G>T
n.3849G>T
 gnomAD v4
1g.1048039C>ACA337852273AGRNc.3779C>A (p.Ala1260Asp)
c.3464C>A (p.Ala1155Asp)
c.3365C>A (p.Ala1122Asp)
c.2906C>A (p.Ala969Asp)
c.2045C>A (p.Ala682Asp)
n.3846C>A
n.3850C>A
 gnomAD v4
1g.1048039C=CA1148803243AGRNc.3779C= (p.Ala1260=)
c.3464C= (p.Ala1155=)
c.3365C= (p.Ala1122=)
c.2906C= (p.Ala969=)
c.2045C= (p.Ala682=)
n.3846C=
n.3850C=
1g.1048039C>GCA337852270AGRNc.3779C>G (p.Ala1260Gly)
c.3464C>G (p.Ala1155Gly)
c.3365C>G (p.Ala1122Gly)
c.2906C>G (p.Ala969Gly)
c.2045C>G (p.Ala682Gly)
n.3846C>G
n.3850C>G
1g.1048039C>TCA337852265AGRNc.3779C>T (p.Ala1260Val)
c.3464C>T (p.Ala1155Val)
c.3365C>T (p.Ala1122Val)
c.2906C>T (p.Ala969Val)
c.2045C>T (p.Ala682Val)
n.3846C>T
n.3850C>T
 dbSNP gnomAD v4
1g.1048040C>ACA415758331AGRNc.3780C>A (p.Ala1260=)
c.3465C>A (p.Ala1155=)
c.3366C>A (p.Ala1122=)
c.2907C>A (p.Ala969=)
c.2046C>A (p.Ala682=)
n.3847C>A
n.3851C>A
 gnomAD v4
1g.1048040C>GCA415758332AGRNc.3780C>G (p.Ala1260=)
c.3465C>G (p.Ala1155=)
c.3366C>G (p.Ala1122=)
c.2907C>G (p.Ala969=)
c.2046C>G (p.Ala682=)
n.3847C>G
n.3851C>G
1g.1048040C>TCA415758335AGRNc.3780C>T (p.Ala1260=)
c.3465C>T (p.Ala1155=)
c.3366C>T (p.Ala1122=)
c.2907C>T (p.Ala969=)
c.2046C>T (p.Ala682=)
n.3847C>T
n.3851C>T
 gnomAD v4
1g.1048041A=CA1148803249AGRNc.3781A= (p.Thr1261=)
c.3466A= (p.Thr1156=)
c.3367A= (p.Thr1123=)
c.2908A= (p.Thr970=)
c.2047A= (p.Thr683=)
n.3848A=
n.3852A=
1g.1048041A>CCA337852277AGRNc.3781A>C (p.Thr1261Pro)
c.3466A>C (p.Thr1156Pro)
c.3367A>C (p.Thr1123Pro)
c.2908A>C (p.Thr970Pro)
c.2047A>C (p.Thr683Pro)
n.3848A>C
n.3852A>C
1g.1048041A>GCA337852280AGRNc.3781A>G (p.Thr1261Ala)
c.3466A>G (p.Thr1156Ala)
c.3367A>G (p.Thr1123Ala)
c.2908A>G (p.Thr970Ala)
c.2047A>G (p.Thr683Ala)
n.3848A>G
n.3852A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1048041A>TCA337852281AGRNc.3781A>T (p.Thr1261Ser)
c.3466A>T (p.Thr1156Ser)
c.3367A>T (p.Thr1123Ser)
c.2908A>T (p.Thr970Ser)
c.2047A>T (p.Thr683Ser)
n.3848A>T
n.3852A>T
1g.1048042C>ACA337852284AGRNc.3782C>A (p.Thr1261Lys)
c.3467C>A (p.Thr1156Lys)
c.3368C>A (p.Thr1123Lys)
c.2909C>A (p.Thr970Lys)
c.2048C>A (p.Thr683Lys)
n.3849C>A
n.3853C>A
 gnomAD v4
1g.1048042C=CA1148803256AGRNc.3782C= (p.Thr1261=)
c.3467C= (p.Thr1156=)
c.3368C= (p.Thr1123=)
c.2909C= (p.Thr970=)
c.2048C= (p.Thr683=)
n.3849C=
n.3853C=
1g.1048042C>GCA337852288AGRNc.3782C>G (p.Thr1261Arg)
c.3467C>G (p.Thr1156Arg)
c.3368C>G (p.Thr1123Arg)
c.2909C>G (p.Thr970Arg)
c.2048C>G (p.Thr683Arg)
n.3849C>G
n.3853C>G
1g.1048042C>TCA337852291AGRNc.3782C>T (p.Thr1261Met)
c.3467C>T (p.Thr1156Met)
c.3368C>T (p.Thr1123Met)
c.2909C>T (p.Thr970Met)
c.2048C>T (p.Thr683Met)
n.3849C>T
n.3853C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1048043G>ACA509238AGRNc.3783G>A (p.Thr1261=)
c.3468G>A (p.Thr1156=)
c.3369G>A (p.Thr1123=)
c.2910G>A (p.Thr970=)
c.2049G>A (p.Thr683=)
n.3850G>A
n.3854G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048043G>CCA415758351AGRNc.3783G>C (p.Thr1261=)
c.3468G>C (p.Thr1156=)
c.3369G>C (p.Thr1123=)
c.2910G>C (p.Thr970=)
c.2049G>C (p.Thr683=)
n.3850G>C
n.3854G>C
 gnomAD v4
1g.1048043G=CA1144124552AGRNc.3783G= (p.Thr1261=)
c.3468G= (p.Thr1156=)
c.3369G= (p.Thr1123=)
c.2910G= (p.Thr970=)
c.2049G= (p.Thr683=)
n.3850G=
n.3854G=
1g.1048043G>TCA415758352AGRNc.3783G>T (p.Thr1261=)
c.3468G>T (p.Thr1156=)
c.3369G>T (p.Thr1123=)
c.2910G>T (p.Thr970=)
c.2049G>T (p.Thr683=)
n.3850G>T
n.3854G>T
 gnomAD v4
1g.1048044T>ACA337852295AGRNc.3784T>A (p.Ser1262Thr)
c.3469T>A (p.Ser1157Thr)
c.3370T>A (p.Ser1124Thr)
c.2911T>A (p.Ser971Thr)
c.2050T>A (p.Ser684Thr)
n.3851T>A
n.3855T>A
1g.1048044T>CCA337852297AGRNc.3784T>C (p.Ser1262Pro)
c.3469T>C (p.Ser1157Pro)
c.3370T>C (p.Ser1124Pro)
c.2911T>C (p.Ser971Pro)
c.2050T>C (p.Ser684Pro)
n.3851T>C
n.3855T>C
 gnomAD v4
1g.1048044T>GCA337852300AGRNc.3784T>G (p.Ser1262Ala)
c.3469T>G (p.Ser1157Ala)
c.3370T>G (p.Ser1124Ala)
c.2911T>G (p.Ser971Ala)
c.2050T>G (p.Ser684Ala)
n.3851T>G
n.3855T>G
1g.1048045C>ACA337852302AGRNc.3785C>A (p.Ser1262Ter)
c.3470C>A (p.Ser1157Ter)
c.3371C>A (p.Ser1124Ter)
c.2912C>A (p.Ser971Ter)
c.2051C>A (p.Ser684Ter)
n.3852C>A
n.3856C>A
 gnomAD v4
1g.1048045C>GCA337852303AGRNc.3785C>G (p.Ser1262Ter)
c.3470C>G (p.Ser1157Ter)
c.3371C>G (p.Ser1124Ter)
c.2912C>G (p.Ser971Ter)
c.2051C>G (p.Ser684Ter)
n.3852C>G
n.3856C>G
1g.1048045C>TCA337852304AGRNc.3785C>T (p.Ser1262Leu)
c.3470C>T (p.Ser1157Leu)
c.3371C>T (p.Ser1124Leu)
c.2912C>T (p.Ser971Leu)
c.2051C>T (p.Ser684Leu)
n.3852C>T
n.3856C>T
 gnomAD v4
1g.1048046A=CA1148803267AGRNc.3786A= (p.Ser1262=)
c.3471A= (p.Ser1157=)
c.3372A= (p.Ser1124=)
c.2913A= (p.Ser971=)
c.2052A= (p.Ser684=)
n.3853A=
n.3857A=
1g.1048046A>CCA415758359AGRNc.3786A>C (p.Ser1262=)
c.3471A>C (p.Ser1157=)
c.3372A>C (p.Ser1124=)
c.2913A>C (p.Ser971=)
c.2052A>C (p.Ser684=)
n.3853A>C
n.3857A>C
1g.1048046A>GCA415758363AGRNc.3786A>G (p.Ser1262=)
c.3471A>G (p.Ser1157=)
c.3372A>G (p.Ser1124=)
c.2913A>G (p.Ser971=)
c.2052A>G (p.Ser684=)
n.3853A>G
n.3857A>G
 dbSNP gnomAD v2 gnomAD v4
1g.1048046A>TCA415758361AGRNc.3786A>T (p.Ser1262=)
c.3471A>T (p.Ser1157=)
c.3372A>T (p.Ser1124=)
c.2913A>T (p.Ser971=)
c.2052A>T (p.Ser684=)
n.3853A>T
n.3857A>T
 gnomAD v4
1g.1048048_1048050delCA2642492078AGRNc.3788_3790del (p.Gly1263del)
c.3473_3475del (p.Gly1158del)
c.3374_3376del (p.Gly1125del)
c.2915_2917del (p.Gly972del)
c.2054_2056del (p.Gly685del)
n.3855_3857del
n.3859_3861del
 gnomAD v4
1g.1048047G>ACA337852306AGRNc.3787G>A (p.Gly1263Arg)
c.3472G>A (p.Gly1158Arg)
c.3373G>A (p.Gly1125Arg)
c.2914G>A (p.Gly972Arg)
c.2053G>A (p.Gly685Arg)
n.3854G>A
n.3858G>A
 dbSNP gnomAD v4
1g.1048047G>CCA337852307AGRNc.3787G>C (p.Gly1263Arg)
c.3472G>C (p.Gly1158Arg)
c.3373G>C (p.Gly1125Arg)
c.2914G>C (p.Gly972Arg)
c.2053G>C (p.Gly685Arg)
n.3854G>C
n.3858G>C
1g.1048047G=CA1148803270AGRNc.3787G= (p.Gly1263=)
c.3472G= (p.Gly1158=)
c.3373G= (p.Gly1125=)
c.2914G= (p.Gly972=)
c.2053G= (p.Gly685=)
n.3854G=
n.3858G=
1g.1048047G>TCA337852305AGRNc.3787G>T (p.Gly1263Ter)
c.3472G>T (p.Gly1158Ter)
c.3373G>T (p.Gly1125Ter)
c.2914G>T (p.Gly972Ter)
c.2053G>T (p.Gly685Ter)
n.3854G>T
n.3858G>T
 gnomAD v4
1g.1048048G>ACA337852308AGRNc.3788G>A (p.Gly1263Glu)
c.3473G>A (p.Gly1158Glu)
c.3374G>A (p.Gly1125Glu)
c.2915G>A (p.Gly972Glu)
c.2054G>A (p.Gly685Glu)
n.3855G>A
n.3859G>A
1g.1048048G>CCA509240AGRNc.3788G>C (p.Gly1263Ala)
c.3473G>C (p.Gly1158Ala)
c.3374G>C (p.Gly1125Ala)
c.2915G>C (p.Gly972Ala)
c.2054G>C (p.Gly685Ala)
n.3855G>C
n.3859G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1048048G=CA1148803278AGRNc.3788G= (p.Gly1263=)
c.3473G= (p.Gly1158=)
c.3374G= (p.Gly1125=)
c.2915G= (p.Gly972=)
c.2054G= (p.Gly685=)
n.3855G=
n.3859G=
1g.1048048G>TCA509239AGRNc.3788G>T (p.Gly1263Val)
c.3473G>T (p.Gly1158Val)
c.3374G>T (p.Gly1125Val)
c.2915G>T (p.Gly972Val)
c.2054G>T (p.Gly685Val)
n.3855G>T
n.3859G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048049A>CCA415758372AGRNc.3789A>C (p.Gly1263=)
c.3474A>C (p.Gly1158=)
c.3375A>C (p.Gly1125=)
c.2916A>C (p.Gly972=)
c.2055A>C (p.Gly685=)
n.3856A>C
n.3860A>C
1g.1048049A>GCA415758376AGRNc.3789A>G (p.Gly1263=)
c.3474A>G (p.Gly1158=)
c.3375A>G (p.Gly1125=)
c.2916A>G (p.Gly972=)
c.2055A>G (p.Gly685=)
n.3856A>G
n.3860A>G
 gnomAD v4
1g.1048049A>TCA415758377AGRNc.3789A>T (p.Gly1263=)
c.3474A>T (p.Gly1158=)
c.3375A>T (p.Gly1125=)
c.2916A>T (p.Gly972=)
c.2055A>T (p.Gly685=)
n.3856A>T
n.3860A>T
1g.1048050G>ACA16760130AGRNc.3790G>A (p.Ala1264Thr)
c.3475G>A (p.Ala1159Thr)
c.3376G>A (p.Ala1126Thr)
c.2917G>A (p.Ala973Thr)
c.2056G>A (p.Ala686Thr)
n.3857G>A
n.3861G>A
 dbSNP gnomAD v2 gnomAD v4
1g.1048050G>CCA337852314AGRNc.3790G>C (p.Ala1264Pro)
c.3475G>C (p.Ala1159Pro)
c.3376G>C (p.Ala1126Pro)
c.2917G>C (p.Ala973Pro)
c.2056G>C (p.Ala686Pro)
n.3857G>C
n.3861G>C
1g.1048050G=CA1148803291AGRNc.3790G= (p.Ala1264=)
c.3475G= (p.Ala1159=)
c.3376G= (p.Ala1126=)
c.2917G= (p.Ala973=)
c.2056G= (p.Ala686=)
n.3857G=
n.3861G=
1g.1048050G>TCA337852315AGRNc.3790G>T (p.Ala1264Ser)
c.3475G>T (p.Ala1159Ser)
c.3376G>T (p.Ala1126Ser)
c.2917G>T (p.Ala973Ser)
c.2056G>T (p.Ala686Ser)
n.3857G>T
n.3861G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1048051C>ACA337852317AGRNc.3791C>A (p.Ala1264Asp)
c.3476C>A (p.Ala1159Asp)
c.3377C>A (p.Ala1126Asp)
c.2918C>A (p.Ala973Asp)
c.2057C>A (p.Ala686Asp)
n.3858C>A
n.3862C>A
 gnomAD v4
1g.1048051C=CA1148803295AGRNc.3791C= (p.Ala1264=)
c.3476C= (p.Ala1159=)
c.3377C= (p.Ala1126=)
c.2918C= (p.Ala973=)
c.2057C= (p.Ala686=)
n.3858C=
n.3862C=
1g.1048051C>GCA337852320AGRNc.3791C>G (p.Ala1264Gly)
c.3476C>G (p.Ala1159Gly)
c.3377C>G (p.Ala1126Gly)
c.2918C>G (p.Ala973Gly)
c.2057C>G (p.Ala686Gly)
n.3858C>G
n.3862C>G
1g.1048051C>TCA16760131AGRNc.3791C>T (p.Ala1264Val)
c.3476C>T (p.Ala1159Val)
c.3377C>T (p.Ala1126Val)
c.2918C>T (p.Ala973Val)
c.2057C>T (p.Ala686Val)
n.3858C>T
n.3862C>T
 dbSNP gnomAD v2 gnomAD v4
1g.1048052C>ACA509241AGRNc.3792C>A (p.Ala1264=)
c.3477C>A (p.Ala1159=)
c.3378C>A (p.Ala1126=)
c.2919C>A (p.Ala973=)
c.2058C>A (p.Ala686=)
n.3859C>A
n.3863C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1048052C=CA1148803317AGRNc.3792C= (p.Ala1264=)
c.3477C= (p.Ala1159=)
c.3378C= (p.Ala1126=)
c.2919C= (p.Ala973=)
c.2058C= (p.Ala686=)
n.3859C=
n.3863C=
1g.1048052C>GCA415758383AGRNc.3792C>G (p.Ala1264=)
c.3477C>G (p.Ala1159=)
c.3378C>G (p.Ala1126=)
c.2919C>G (p.Ala973=)
c.2058C>G (p.Ala686=)
n.3859C>G
n.3863C>G
1g.1048052C>TCA415758384AGRNc.3792C>T (p.Ala1264=)
c.3477C>T (p.Ala1159=)
c.3378C>T (p.Ala1126=)
c.2919C>T (p.Ala973=)
c.2058C>T (p.Ala686=)
n.3859C>T
n.3863C>T
 gnomAD v4
1g.1048053A=CA1148803322AGRNc.3793A= (p.Ile1265=)
c.3478A= (p.Ile1160=)
c.3379A= (p.Ile1127=)
c.2920A= (p.Ile974=)
c.2059A= (p.Ile687=)
n.3860A=
n.3864A=
1g.1048053A>CCA337852332AGRNc.3793A>C (p.Ile1265Leu)
c.3478A>C (p.Ile1160Leu)
c.3379A>C (p.Ile1127Leu)
c.2920A>C (p.Ile974Leu)
c.2059A>C (p.Ile687Leu)
n.3860A>C
n.3864A>C
1g.1048053A>GCA337852334AGRNc.3793A>G (p.Ile1265Val)
c.3478A>G (p.Ile1160Val)
c.3379A>G (p.Ile1127Val)
c.2920A>G (p.Ile974Val)
c.2059A>G (p.Ile687Val)
n.3860A>G
n.3864A>G
 dbSNP gnomAD v4
1g.1048053A>TCA337852335AGRNc.3793A>T (p.Ile1265Phe)
c.3478A>T (p.Ile1160Phe)
c.3379A>T (p.Ile1127Phe)
c.2920A>T (p.Ile974Phe)
c.2059A>T (p.Ile687Phe)
n.3860A>T
n.3864A>T
1g.1048054T>ACA337852338AGRNc.3794T>A (p.Ile1265Asn)
c.3479T>A (p.Ile1160Asn)
c.3380T>A (p.Ile1127Asn)
c.2921T>A (p.Ile974Asn)
c.2060T>A (p.Ile687Asn)
n.3861T>A
n.3865T>A
 gnomAD v4
1g.1048054T>CCA337852343AGRNc.3794T>C (p.Ile1265Thr)
c.3479T>C (p.Ile1160Thr)
c.3380T>C (p.Ile1127Thr)
c.2921T>C (p.Ile974Thr)
c.2060T>C (p.Ile687Thr)
n.3861T>C
n.3865T>C
1g.1048054T>GCA337852341AGRNc.3794T>G (p.Ile1265Ser)
c.3479T>G (p.Ile1160Ser)
c.3380T>G (p.Ile1127Ser)
c.2921T>G (p.Ile974Ser)
c.2060T>G (p.Ile687Ser)
n.3861T>G
n.3865T>G
1g.1048055T>ACA509242AGRNc.3795T>A (p.Ile1265=)
c.3480T>A (p.Ile1160=)
c.3381T>A (p.Ile1127=)
c.2922T>A (p.Ile974=)
c.2061T>A (p.Ile687=)
n.3862T>A
n.3866T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048055T>CCA415758389AGRNc.3795T>C (p.Ile1265=)
c.3480T>C (p.Ile1160=)
c.3381T>C (p.Ile1127=)
c.2922T>C (p.Ile974=)
c.2061T>C (p.Ile687=)
n.3862T>C
n.3866T>C
1g.1048055T>GCA337852345AGRNc.3795T>G (p.Ile1265Met)
c.3480T>G (p.Ile1160Met)
c.3381T>G (p.Ile1127Met)
c.2922T>G (p.Ile974Met)
c.2061T>G (p.Ile687Met)
n.3862T>G
n.3866T>G
1g.1048055T=CA1148803351AGRNc.3795T= (p.Ile1265=)
c.3480T= (p.Ile1160=)
c.3381T= (p.Ile1127=)
c.2922T= (p.Ile974=)
c.2061T= (p.Ile687=)
n.3862T=
n.3866T=
1g.1048056G>ACA337852347AGRNc.3796G>A (p.Ala1266Thr)
c.3481G>A (p.Ala1161Thr)
c.3382G>A (p.Ala1128Thr)
c.2923G>A (p.Ala975Thr)
c.2062G>A (p.Ala688Thr)
n.3863G>A
n.3867G>A
1g.1048056G>CCA337852348AGRNc.3796G>C (p.Ala1266Pro)
c.3481G>C (p.Ala1161Pro)
c.3382G>C (p.Ala1128Pro)
c.2923G>C (p.Ala975Pro)
c.2062G>C (p.Ala688Pro)
n.3863G>C
n.3867G>C
 gnomAD v4
1g.1048056G=CA1148803375AGRNc.3796G= (p.Ala1266=)
c.3481G= (p.Ala1161=)
c.3382G= (p.Ala1128=)
c.2923G= (p.Ala975=)
c.2062G= (p.Ala688=)
n.3863G=
n.3867G=
1g.1048056G>TCA337852356AGRNc.3796G>T (p.Ala1266Ser)
c.3481G>T (p.Ala1161Ser)
c.3382G>T (p.Ala1128Ser)
c.2923G>T (p.Ala975Ser)
c.2062G>T (p.Ala688Ser)
n.3863G>T
n.3867G>T
 dbSNP gnomAD v4
1g.1048057C>ACA337852361AGRNc.3797C>A (p.Ala1266Asp)
c.3482C>A (p.Ala1161Asp)
c.3383C>A (p.Ala1128Asp)
c.2924C>A (p.Ala975Asp)
c.2063C>A (p.Ala688Asp)
n.3864C>A
n.3868C>A
 gnomAD v4
1g.1048057C=CA1148803384AGRNc.3797C= (p.Ala1266=)
c.3482C= (p.Ala1161=)
c.3383C= (p.Ala1128=)
c.2924C= (p.Ala975=)
c.2063C= (p.Ala688=)
n.3864C=
n.3868C=
1g.1048057C>GCA337852363AGRNc.3797C>G (p.Ala1266Gly)
c.3482C>G (p.Ala1161Gly)
c.3383C>G (p.Ala1128Gly)
c.2924C>G (p.Ala975Gly)
c.2063C>G (p.Ala688Gly)
n.3864C>G
n.3868C>G
1g.1048057C>TCA509243AGRNc.3797C>T (p.Ala1266Val)
c.3482C>T (p.Ala1161Val)
c.3383C>T (p.Ala1128Val)
c.2924C>T (p.Ala975Val)
c.2063C>T (p.Ala688Val)
n.3864C>T
n.3868C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048058T>ACA415758395AGRNc.3798T>A (p.Ala1266=)
c.3483T>A (p.Ala1161=)
c.3384T>A (p.Ala1128=)
c.2925T>A (p.Ala975=)
c.2064T>A (p.Ala688=)
n.3865T>A
n.3869T>A
1g.1048058T>CCA415758396AGRNc.3798T>C (p.Ala1266=)
c.3483T>C (p.Ala1161=)
c.3384T>C (p.Ala1128=)
c.2925T>C (p.Ala975=)
c.2064T>C (p.Ala688=)
n.3865T>C
n.3869T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1048058T>GCA415758397AGRNc.3798T>G (p.Ala1266=)
c.3483T>G (p.Ala1161=)
c.3384T>G (p.Ala1128=)
c.2925T>G (p.Ala975=)
c.2064T>G (p.Ala688=)
n.3865T>G
n.3869T>G
1g.1048058T=CA1148803392AGRNc.3798T= (p.Ala1266=)
c.3483T= (p.Ala1161=)
c.3384T= (p.Ala1128=)
c.2925T= (p.Ala975=)
c.2064T= (p.Ala688=)
n.3865T=
n.3869T=
1g.1048059G>ACA337852366AGRNc.3799G>A (p.Ala1267Thr)
c.3484G>A (p.Ala1162Thr)
c.3385G>A (p.Ala1129Thr)
c.2926G>A (p.Ala976Thr)
c.2065G>A (p.Ala689Thr)
n.3866G>A
n.3870G>A
 gnomAD v4
1g.1048059G>CCA337852373AGRNc.3799G>C (p.Ala1267Pro)
c.3484G>C (p.Ala1162Pro)
c.3385G>C (p.Ala1129Pro)
c.2926G>C (p.Ala976Pro)
c.2065G>C (p.Ala689Pro)
n.3866G>C
n.3870G>C
1g.1048059G>TCA337852377AGRNc.3799G>T (p.Ala1267Ser)
c.3484G>T (p.Ala1162Ser)
c.3385G>T (p.Ala1129Ser)
c.2926G>T (p.Ala976Ser)
c.2065G>T (p.Ala689Ser)
n.3866G>T
n.3870G>T
 gnomAD v4
1g.1048060_1048062delCA2642492083AGRNc.3800_3802del (p.Ala1267del)
c.3485_3487del (p.Ala1162del)
c.3386_3388del (p.Ala1129del)
c.2927_2929del (p.Ala976del)
c.2066_2068del (p.Ala689del)
n.3867_3869del
n.3871_3873del
 gnomAD v4
1g.1048060C>ACA337852384AGRNc.3800C>A (p.Ala1267Glu)
c.3485C>A (p.Ala1162Glu)
c.3386C>A (p.Ala1129Glu)
c.2927C>A (p.Ala976Glu)
c.2066C>A (p.Ala689Glu)
n.3867C>A
n.3871C>A
 gnomAD v4
1g.1048060C=CA1148803399AGRNc.3800C= (p.Ala1267=)
c.3485C= (p.Ala1162=)
c.3386C= (p.Ala1129=)
c.2927C= (p.Ala976=)
c.2066C= (p.Ala689=)
n.3867C=
n.3871C=
1g.1048060C>GCA337852387AGRNc.3800C>G (p.Ala1267Gly)
c.3485C>G (p.Ala1162Gly)
c.3386C>G (p.Ala1129Gly)
c.2927C>G (p.Ala976Gly)
c.2066C>G (p.Ala689Gly)
n.3867C>G
n.3871C>G
 dbSNP gnomAD v2 gnomAD v4
1g.1048060C>TCA509244AGRNc.3800C>T (p.Ala1267Val)
c.3485C>T (p.Ala1162Val)
c.3386C>T (p.Ala1129Val)
c.2927C>T (p.Ala976Val)
c.2066C>T (p.Ala689Val)
n.3867C>T
n.3871C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048061G>ACA509245AGRNc.3801G>A (p.Ala1267=)
c.3486G>A (p.Ala1162=)
c.3387G>A (p.Ala1129=)
c.2928G>A (p.Ala976=)
c.2067G>A (p.Ala689=)
n.3868G>A
n.3872G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048061G>CCA415758406AGRNc.3801G>C (p.Ala1267=)
c.3486G>C (p.Ala1162=)
c.3387G>C (p.Ala1129=)
c.2928G>C (p.Ala976=)
c.2067G>C (p.Ala689=)
n.3868G>C
n.3872G>C
 gnomAD v4
1g.1048061G=CA1142242683AGRNc.3801G= (p.Ala1267=)
c.3486G= (p.Ala1162=)
c.3387G= (p.Ala1129=)
c.2928G= (p.Ala976=)
c.2067G= (p.Ala689=)
n.3868G=
n.3872G=
1g.1048061G>TCA509246AGRNc.3801G>T (p.Ala1267=)
c.3486G>T (p.Ala1162=)
c.3387G>T (p.Ala1129=)
c.2928G>T (p.Ala976=)
c.2067G>T (p.Ala689=)
n.3868G>T
n.3872G>T
 dbSNP ExAC gnomAD v4
1g.1048062G>ACA337852393AGRNc.3802G>A (p.Gly1268Arg)
c.3487G>A (p.Gly1163Arg)
c.3388G>A (p.Gly1130Arg)
c.2929G>A (p.Gly977Arg)
c.2068G>A (p.Gly690Arg)
n.3869G>A
n.3873G>A
 gnomAD v4
1g.1048062G>CCA337852391AGRNc.3802G>C (p.Gly1268Arg)
c.3487G>C (p.Gly1163Arg)
c.3388G>C (p.Gly1130Arg)
c.2929G>C (p.Gly977Arg)
c.2068G>C (p.Gly690Arg)
n.3869G>C
n.3873G>C
1g.1048062G>TCA337852396AGRNc.3802G>T (p.Gly1268Ter)
c.3487G>T (p.Gly1163Ter)
c.3388G>T (p.Gly1130Ter)
c.2929G>T (p.Gly977Ter)
c.2068G>T (p.Gly690Ter)
n.3869G>T
n.3873G>T
 gnomAD v4
1g.1048062_1048073dupCA2574258705AGRNc.3802_3813dup (p.Ala1271_Arg1272insGlyAlaThrAla)
c.3487_3498dup (p.Ala1166_Arg1167insGlyAlaThrAla)
c.3388_3399dup (p.Ala1133_Arg1134insGlyAlaThrAla)
c.2929_2940dup (p.Ala980_Arg981insGlyAlaThrAla)
c.2068_2079dup (p.Ala693_Arg694insGlyAlaThrAla)
n.3869_3880dup
n.3873_3884dup
1g.1048063G>ACA509247AGRNc.3803G>A (p.Gly1268Glu)
c.3488G>A (p.Gly1163Glu)
c.3389G>A (p.Gly1130Glu)
c.2930G>A (p.Gly977Glu)
c.2069G>A (p.Gly690Glu)
n.3870G>A
n.3874G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1048063G>CCA337852400AGRNc.3803G>C (p.Gly1268Ala)
c.3488G>C (p.Gly1163Ala)
c.3389G>C (p.Gly1130Ala)
c.2930G>C (p.Gly977Ala)
c.2069G>C (p.Gly690Ala)
n.3870G>C
n.3874G>C
 gnomAD v4
1g.1048063G=CA1148803424AGRNc.3803G= (p.Gly1268=)
c.3488G= (p.Gly1163=)
c.3389G= (p.Gly1130=)
c.2930G= (p.Gly977=)
c.2069G= (p.Gly690=)
n.3870G=
n.3874G=
1g.1048063G>TCA337852401AGRNc.3803G>T (p.Gly1268Val)
c.3488G>T (p.Gly1163Val)
c.3389G>T (p.Gly1130Val)
c.2930G>T (p.Gly977Val)
c.2069G>T (p.Gly690Val)
n.3870G>T
n.3874G>T
 gnomAD v4
1g.1048064A>CCA415758409AGRNc.3804A>C (p.Gly1268=)
c.3489A>C (p.Gly1163=)
c.3390A>C (p.Gly1130=)
c.2931A>C (p.Gly977=)
c.2070A>C (p.Gly690=)
n.3871A>C
n.3875A>C
1g.1048064A>GCA415758410AGRNc.3804A>G (p.Gly1268=)
c.3489A>G (p.Gly1163=)
c.3390A>G (p.Gly1130=)
c.2931A>G (p.Gly977=)
c.2070A>G (p.Gly690=)
n.3871A>G
n.3875A>G
 gnomAD v4
1g.1048064A>TCA415758411AGRNc.3804A>T (p.Gly1268=)
c.3489A>T (p.Gly1163=)
c.3390A>T (p.Gly1130=)
c.2931A>T (p.Gly977=)
c.2070A>T (p.Gly690=)
n.3871A>T
n.3875A>T
1g.1048065G>ACA337852402AGRNc.3805G>A (p.Ala1269Thr)
c.3490G>A (p.Ala1164Thr)
c.3391G>A (p.Ala1131Thr)
c.2932G>A (p.Ala978Thr)
c.2071G>A (p.Ala691Thr)
n.3872G>A
n.3876G>A
 gnomAD v4
1g.1048065G>CCA337852403AGRNc.3805G>C (p.Ala1269Pro)
c.3490G>C (p.Ala1164Pro)
c.3391G>C (p.Ala1131Pro)
c.2932G>C (p.Ala978Pro)
c.2071G>C (p.Ala691Pro)
n.3872G>C
n.3876G>C
 gnomAD v4
1g.1048065G>TCA337852404AGRNc.3805G>T (p.Ala1269Ser)
c.3490G>T (p.Ala1164Ser)
c.3391G>T (p.Ala1131Ser)
c.2932G>T (p.Ala978Ser)
c.2071G>T (p.Ala691Ser)
n.3872G>T
n.3876G>T
 gnomAD v4
1g.1048066C>ACA337852405AGRNc.3806C>A (p.Ala1269Asp)
c.3491C>A (p.Ala1164Asp)
c.3392C>A (p.Ala1131Asp)
c.2933C>A (p.Ala978Asp)
c.2072C>A (p.Ala691Asp)
n.3873C>A
n.3877C>A
 ClinVar gnomAD v4
1g.1048066C=CA1148803441AGRNc.3806C= (p.Ala1269=)
c.3491C= (p.Ala1164=)
c.3392C= (p.Ala1131=)
c.2933C= (p.Ala978=)
c.2072C= (p.Ala691=)
n.3873C=
n.3877C=
1g.1048066C>GCA337852406AGRNc.3806C>G (p.Ala1269Gly)
c.3491C>G (p.Ala1164Gly)
c.3392C>G (p.Ala1131Gly)
c.2933C>G (p.Ala978Gly)
c.2072C>G (p.Ala691Gly)
n.3873C>G
n.3877C>G
1g.1048066C>TCA337852408AGRNc.3806C>T (p.Ala1269Val)
c.3491C>T (p.Ala1164Val)
c.3392C>T (p.Ala1131Val)
c.2933C>T (p.Ala978Val)
c.2072C>T (p.Ala691Val)
n.3873C>T
n.3877C>T
 dbSNP gnomAD v4
1g.1048067C>ACA415757973AGRNc.3807C>A (p.Ala1269=)
c.3492C>A (p.Ala1164=)
c.3393C>A (p.Ala1131=)
c.2934C>A (p.Ala978=)
c.2073C>A (p.Ala691=)
n.3874C>A
n.3878C>A
1g.1048067C>GCA415757975AGRNc.3807C>G (p.Ala1269=)
c.3492C>G (p.Ala1164=)
c.3393C>G (p.Ala1131=)
c.2934C>G (p.Ala978=)
c.2073C>G (p.Ala691=)
n.3874C>G
n.3878C>G
1g.1048067C>TCA415757977AGRNc.3807C>T (p.Ala1269=)
c.3492C>T (p.Ala1164=)
c.3393C>T (p.Ala1131=)
c.2934C>T (p.Ala978=)
c.2073C>T (p.Ala691=)
n.3874C>T
n.3878C>T
1g.1048068A=CA1148803443AGRNc.3808A= (p.Thr1270=)
c.3493A= (p.Thr1165=)
c.3394A= (p.Thr1132=)
c.2935A= (p.Thr979=)
c.2074A= (p.Thr692=)
n.3875A=
n.3879A=
1g.1048068A>CCA337852410AGRNc.3808A>C (p.Thr1270Pro)
c.3493A>C (p.Thr1165Pro)
c.3394A>C (p.Thr1132Pro)
c.2935A>C (p.Thr979Pro)
c.2074A>C (p.Thr692Pro)
n.3875A>C
n.3879A>C
1g.1048068A>GCA16760145AGRNc.3808A>G (p.Thr1270Ala)
c.3493A>G (p.Thr1165Ala)
c.3394A>G (p.Thr1132Ala)
c.2935A>G (p.Thr979Ala)
c.2074A>G (p.Thr692Ala)
n.3875A>G
n.3879A>G
 dbSNP
1g.1048068A>TCA337852412AGRNc.3808A>T (p.Thr1270Ser)
c.3493A>T (p.Thr1165Ser)
c.3394A>T (p.Thr1132Ser)
c.2935A>T (p.Thr979Ser)
c.2074A>T (p.Thr692Ser)
n.3875A>T
n.3879A>T
1g.1048069C>ACA337852423AGRNc.3809C>A (p.Thr1270Lys)
c.3494C>A (p.Thr1165Lys)
c.3395C>A (p.Thr1132Lys)
c.2936C>A (p.Thr979Lys)
c.2075C>A (p.Thr692Lys)
n.3876C>A
n.3880C>A
 dbSNP gnomAD v4
1g.1048069C=CA1148803446AGRNc.3809C= (p.Thr1270=)
c.3494C= (p.Thr1165=)
c.3395C= (p.Thr1132=)
c.2936C= (p.Thr979=)
c.2075C= (p.Thr692=)
n.3876C=
n.3880C=
1g.1048069C>GCA337852417AGRNc.3809C>G (p.Thr1270Arg)
c.3494C>G (p.Thr1165Arg)
c.3395C>G (p.Thr1132Arg)
c.2936C>G (p.Thr979Arg)
c.2075C>G (p.Thr692Arg)
n.3876C>G
n.3880C>G
 gnomAD v4
1g.1048069C>TCA509248AGRNc.3809C>T (p.Thr1270Met)
c.3494C>T (p.Thr1165Met)
c.3395C>T (p.Thr1132Met)
c.2936C>T (p.Thr979Met)
c.2075C>T (p.Thr692Met)
n.3876C>T
n.3880C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048070G>ACA509249AGRNc.3810G>A (p.Thr1270=)
c.3495G>A (p.Thr1165=)
c.3396G>A (p.Thr1132=)
c.2937G>A (p.Thr979=)
c.2076G>A (p.Thr692=)
n.3877G>A
n.3881G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048070G>CCA415757981AGRNc.3810G>C (p.Thr1270=)
c.3495G>C (p.Thr1165=)
c.3396G>C (p.Thr1132=)
c.2937G>C (p.Thr979=)
c.2076G>C (p.Thr692=)
n.3877G>C
n.3881G>C
 gnomAD v4
1g.1048070G=CA1143654242AGRNc.3810G= (p.Thr1270=)
c.3495G= (p.Thr1165=)
c.3396G= (p.Thr1132=)
c.2937G= (p.Thr979=)
c.2076G= (p.Thr692=)
n.3877G=
n.3881G=
1g.1048070G>TCA415757982AGRNc.3810G>T (p.Thr1270=)
c.3495G>T (p.Thr1165=)
c.3396G>T (p.Thr1132=)
c.2937G>T (p.Thr979=)
c.2076G>T (p.Thr692=)
n.3877G>T
n.3881G>T
 gnomAD v4
1g.1048071delCA2642492089AGRNc.3811del (p.Ala1271ProfsTer14)
c.3496del (p.Ala1166ProfsTer14)
c.3397del (p.Ala1133ProfsTer14)
c.2938del (p.Ala980ProfsTer14)
c.2077del (p.Ala693ProfsTer14)
n.3878del
n.3882del
 gnomAD v4
1g.1048071G>ACA337852429AGRNc.3811G>A (p.Ala1271Thr)
c.3496G>A (p.Ala1166Thr)
c.3397G>A (p.Ala1133Thr)
c.2938G>A (p.Ala980Thr)
c.2077G>A (p.Ala693Thr)
n.3878G>A
n.3882G>A
 gnomAD v4
1g.1048071G>CCA337852432AGRNc.3811G>C (p.Ala1271Pro)
c.3496G>C (p.Ala1166Pro)
c.3397G>C (p.Ala1133Pro)
c.2938G>C (p.Ala980Pro)
c.2077G>C (p.Ala693Pro)
n.3878G>C
n.3882G>C
1g.1048071G>TCA337852434AGRNc.3811G>T (p.Ala1271Ser)
c.3496G>T (p.Ala1166Ser)
c.3397G>T (p.Ala1133Ser)
c.2938G>T (p.Ala980Ser)
c.2077G>T (p.Ala693Ser)
n.3878G>T
n.3882G>T
1g.1048072C>ACA337852437AGRNc.3812C>A (p.Ala1271Asp)
c.3497C>A (p.Ala1166Asp)
c.3398C>A (p.Ala1133Asp)
c.2939C>A (p.Ala980Asp)
c.2078C>A (p.Ala693Asp)
n.3879C>A
n.3883C>A
 gnomAD v4
1g.1048072C=CA1148803458AGRNc.3812C= (p.Ala1271=)
c.3497C= (p.Ala1166=)
c.3398C= (p.Ala1133=)
c.2939C= (p.Ala980=)
c.2078C= (p.Ala693=)
n.3879C=
n.3883C=
1g.1048072C>GCA509250AGRNc.3812C>G (p.Ala1271Gly)
c.3497C>G (p.Ala1166Gly)
c.3398C>G (p.Ala1133Gly)
c.2939C>G (p.Ala980Gly)
c.2078C>G (p.Ala693Gly)
n.3879C>G
n.3883C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1048072C>TCA337852441AGRNc.3812C>T (p.Ala1271Val)
c.3497C>T (p.Ala1166Val)
c.3398C>T (p.Ala1133Val)
c.2939C>T (p.Ala980Val)
c.2078C>T (p.Ala693Val)
n.3879C>T
n.3883C>T
 gnomAD v4
1g.1048073C>ACA415757998AGRNc.3813C>A (p.Ala1271=)
c.3498C>A (p.Ala1166=)
c.3399C>A (p.Ala1133=)
c.2940C>A (p.Ala980=)
c.2079C>A (p.Ala693=)
n.3880C>A
n.3884C>A
 gnomAD v4
1g.1048073C>GCA415758000AGRNc.3813C>G (p.Ala1271=)
c.3498C>G (p.Ala1166=)
c.3399C>G (p.Ala1133=)
c.2940C>G (p.Ala980=)
c.2079C>G (p.Ala693=)
n.3880C>G
n.3884C>G
 gnomAD v4
1g.1048073C>TCA415758002AGRNc.3813C>T (p.Ala1271=)
c.3498C>T (p.Ala1166=)
c.3399C>T (p.Ala1133=)
c.2940C>T (p.Ala980=)
c.2079C>T (p.Ala693=)
n.3880C>T
n.3884C>T
 gnomAD v4
1g.1048074A>CCA415758004AGRNc.3814A>C (p.Arg1272=)
c.3499A>C (p.Arg1167=)
c.3400A>C (p.Arg1134=)
c.2941A>C (p.Arg981=)
c.2080A>C (p.Arg694=)
n.3881A>C
n.3885A>C
1g.1048074A>GCA337852443AGRNc.3814A>G (p.Arg1272Gly)
c.3499A>G (p.Arg1167Gly)
c.3400A>G (p.Arg1134Gly)
c.2941A>G (p.Arg981Gly)
c.2080A>G (p.Arg694Gly)
n.3881A>G
n.3885A>G
1g.1048074A>TCA337852444AGRNc.3814A>T (p.Arg1272Ter)
c.3499A>T (p.Arg1167Ter)
c.3400A>T (p.Arg1134Ter)
c.2941A>T (p.Arg981Ter)
c.2080A>T (p.Arg694Ter)
n.3881A>T
n.3885A>T
1g.1048075G>ACA337852445AGRNc.3815G>A (p.Arg1272Lys)
c.3500G>A (p.Arg1167Lys)
c.3401G>A (p.Arg1134Lys)
c.2942G>A (p.Arg981Lys)
c.2081G>A (p.Arg694Lys)
n.3882G>A
n.3886G>A
 ClinVar dbSNP gnomAD v4
1g.1048075G>CCA337852446AGRNc.3815G>C (p.Arg1272Thr)
c.3500G>C (p.Arg1167Thr)
c.3401G>C (p.Arg1134Thr)
c.2942G>C (p.Arg981Thr)
c.2081G>C (p.Arg694Thr)
n.3882G>C
n.3886G>C
 gnomAD v4
1g.1048075G=CA1148803467AGRNc.3815G= (p.Arg1272=)
c.3500G= (p.Arg1167=)
c.3401G= (p.Arg1134=)
c.2942G= (p.Arg981=)
c.2081G= (p.Arg694=)
n.3882G=
n.3886G=
1g.1048075G>TCA337852447AGRNc.3815G>T (p.Arg1272Ile)
c.3500G>T (p.Arg1167Ile)
c.3401G>T (p.Arg1134Ile)
c.2942G>T (p.Arg981Ile)
c.2081G>T (p.Arg694Ile)
n.3882G>T
n.3886G>T
 gnomAD v4
1g.1048076A=CA1148803475AGRNc.3816A= (p.Arg1272=)
c.3501A= (p.Arg1167=)
c.3402A= (p.Arg1134=)
c.2943A= (p.Arg981=)
c.2082A= (p.Arg694=)
n.3883A=
n.3887A=
1g.1048076A>CCA337852452AGRNc.3816A>C (p.Arg1272Ser)
c.3501A>C (p.Arg1167Ser)
c.3402A>C (p.Arg1134Ser)
c.2943A>C (p.Arg981Ser)
c.2082A>C (p.Arg694Ser)
n.3883A>C
n.3887A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1048076A>GCA415758013AGRNc.3816A>G (p.Arg1272=)
c.3501A>G (p.Arg1167=)
c.3402A>G (p.Arg1134=)
c.2943A>G (p.Arg981=)
c.2082A>G (p.Arg694=)
n.3883A>G
n.3887A>G
 gnomAD v4
1g.1048076A>TCA337852449AGRNc.3816A>T (p.Arg1272Ser)
c.3501A>T (p.Arg1167Ser)
c.3402A>T (p.Arg1134Ser)
c.2943A>T (p.Arg981Ser)
c.2082A>T (p.Arg694Ser)
n.3883A>T
n.3887A>T
1g.1048077G>ACA337852454AGRNc.3817G>A (p.Ala1273Thr)
c.3502G>A (p.Ala1168Thr)
c.3403G>A (p.Ala1135Thr)
c.2944G>A (p.Ala982Thr)
c.2083G>A (p.Ala695Thr)
n.3884G>A
n.3888G>A
 gnomAD v4
1g.1048077G>CCA337852455AGRNc.3817G>C (p.Ala1273Pro)
c.3502G>C (p.Ala1168Pro)
c.3403G>C (p.Ala1135Pro)
c.2944G>C (p.Ala982Pro)
c.2083G>C (p.Ala695Pro)
n.3884G>C
n.3888G>C
1g.1048077G>TCA337852457AGRNc.3817G>T (p.Ala1273Ser)
c.3502G>T (p.Ala1168Ser)
c.3403G>T (p.Ala1135Ser)
c.2944G>T (p.Ala982Ser)
c.2083G>T (p.Ala695Ser)
n.3884G>T
n.3888G>T
 gnomAD v4
1g.1048078C>ACA337852459AGRNc.3818C>A (p.Ala1273Asp)
c.3503C>A (p.Ala1168Asp)
c.3404C>A (p.Ala1135Asp)
c.2945C>A (p.Ala982Asp)
c.2084C>A (p.Ala695Asp)
n.3885C>A
n.3889C>A
 gnomAD v4
1g.1048078C>GCA337852461AGRNc.3818C>G (p.Ala1273Gly)
c.3503C>G (p.Ala1168Gly)
c.3404C>G (p.Ala1135Gly)
c.2945C>G (p.Ala982Gly)
c.2084C>G (p.Ala695Gly)
n.3885C>G
n.3889C>G
1g.1048078C>TCA337852462AGRNc.3818C>T (p.Ala1273Val)
c.3503C>T (p.Ala1168Val)
c.3404C>T (p.Ala1135Val)
c.2945C>T (p.Ala982Val)
c.2084C>T (p.Ala695Val)
n.3885C>T
n.3889C>T
 gnomAD v4
1g.1048079C>ACA415758024AGRNc.3819C>A (p.Ala1273=)
c.3504C>A (p.Ala1168=)
c.3405C>A (p.Ala1135=)
c.2946C>A (p.Ala982=)
c.2085C>A (p.Ala695=)
n.3886C>A
n.3890C>A
1g.1048079C=CA1141876286AGRNc.3819C= (p.Ala1273=)
c.3504C= (p.Ala1168=)
c.3405C= (p.Ala1135=)
c.2946C= (p.Ala982=)
c.2085C= (p.Ala695=)
n.3886C=
n.3890C=
1g.1048079C>GCA415758025AGRNc.3819C>G (p.Ala1273=)
c.3504C>G (p.Ala1168=)
c.3405C>G (p.Ala1135=)
c.2946C>G (p.Ala982=)
c.2085C>G (p.Ala695=)
n.3886C>G
n.3890C>G
1g.1048079C>TCA509251AGRNc.3819C>T (p.Ala1273=)
c.3504C>T (p.Ala1168=)
c.3405C>T (p.Ala1135=)
c.2946C>T (p.Ala982=)
c.2085C>T (p.Ala695=)
n.3886C>T
n.3890C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048080A=CA1148803486AGRNc.3820A= (p.Thr1274=)
c.3505A= (p.Thr1169=)
c.3406A= (p.Thr1136=)
c.2947A= (p.Thr983=)
c.2086A= (p.Thr696=)
n.3887A=
n.3891A=
1g.1048080A>CCA337852467AGRNc.3820A>C (p.Thr1274Pro)
c.3505A>C (p.Thr1169Pro)
c.3406A>C (p.Thr1136Pro)
c.2947A>C (p.Thr983Pro)
c.2086A>C (p.Thr696Pro)
n.3887A>C
n.3891A>C
 dbSNP
1g.1048080A>GCA337852468AGRNc.3820A>G (p.Thr1274Ala)
c.3505A>G (p.Thr1169Ala)
c.3406A>G (p.Thr1136Ala)
c.2947A>G (p.Thr983Ala)
c.2086A>G (p.Thr696Ala)
n.3887A>G
n.3891A>G
 dbSNP gnomAD v4
1g.1048080A>TCA337852470AGRNc.3820A>T (p.Thr1274Ser)
c.3505A>T (p.Thr1169Ser)
c.3406A>T (p.Thr1136Ser)
c.2947A>T (p.Thr983Ser)
c.2086A>T (p.Thr696Ser)
n.3887A>T
n.3891A>T
1g.1048081C>ACA337852472AGRNc.3821C>A (p.Thr1274Asn)
c.3506C>A (p.Thr1169Asn)
c.3407C>A (p.Thr1136Asn)
c.2948C>A (p.Thr983Asn)
c.2087C>A (p.Thr696Asn)
n.3888C>A
n.3892C>A
 ClinVar dbSNP gnomAD v4
1g.1048081C=CA1148803554AGRNc.3821C= (p.Thr1274=)
c.3506C= (p.Thr1169=)
c.3407C= (p.Thr1136=)
c.2948C= (p.Thr983=)
c.2087C= (p.Thr696=)
n.3888C=
n.3892C=
1g.1048081C>GCA337852474AGRNc.3821C>G (p.Thr1274Ser)
c.3506C>G (p.Thr1169Ser)
c.3407C>G (p.Thr1136Ser)
c.2948C>G (p.Thr983Ser)
c.2087C>G (p.Thr696Ser)
n.3888C>G
n.3892C>G
 gnomAD v4
1g.1048081C>TCA337852475AGRNc.3821C>T (p.Thr1274Ile)
c.3506C>T (p.Thr1169Ile)
c.3407C>T (p.Thr1136Ile)
c.2948C>T (p.Thr983Ile)
c.2087C>T (p.Thr696Ile)
n.3888C>T
n.3892C>T
 gnomAD v4
1g.1048082C>ACA415758040AGRNc.3822C>A (p.Thr1274=)
c.3507C>A (p.Thr1169=)
c.3408C>A (p.Thr1136=)
c.2949C>A (p.Thr983=)
c.2088C>A (p.Thr696=)
n.3889C>A
n.3893C>A
 gnomAD v4
1g.1048082C=CA1148803582AGRNc.3822C= (p.Thr1274=)
c.3507C= (p.Thr1169=)
c.3408C= (p.Thr1136=)
c.2949C= (p.Thr983=)
c.2088C= (p.Thr696=)
n.3889C=
n.3893C=
1g.1048082C>GCA415758039AGRNc.3822C>G (p.Thr1274=)
c.3507C>G (p.Thr1169=)
c.3408C>G (p.Thr1136=)
c.2949C>G (p.Thr983=)
c.2088C>G (p.Thr696=)
n.3889C>G
n.3893C>G
 gnomAD v4
1g.1048082C>TCA415758038AGRNc.3822C>T (p.Thr1274=)
c.3507C>T (p.Thr1169=)
c.3408C>T (p.Thr1136=)
c.2949C>T (p.Thr983=)
c.2088C>T (p.Thr696=)
n.3889C>T
n.3893C>T
 dbSNP gnomAD v3 gnomAD v4
1g.1048083A>CCA337852479AGRNc.3823A>C (p.Thr1275Pro)
c.3508A>C (p.Thr1170Pro)
c.3409A>C (p.Thr1137Pro)
c.2950A>C (p.Thr984Pro)
c.2089A>C (p.Thr697Pro)
n.3890A>C
n.3894A>C
1g.1048083A>GCA337852477AGRNc.3823A>G (p.Thr1275Ala)
c.3508A>G (p.Thr1170Ala)
c.3409A>G (p.Thr1137Ala)
c.2950A>G (p.Thr984Ala)
c.2089A>G (p.Thr697Ala)
n.3890A>G
n.3894A>G
 gnomAD v4
1g.1048083A>TCA337852478AGRNc.3823A>T (p.Thr1275Ser)
c.3508A>T (p.Thr1170Ser)
c.3409A>T (p.Thr1137Ser)
c.2950A>T (p.Thr984Ser)
c.2089A>T (p.Thr697Ser)
n.3890A>T
n.3894A>T
1g.1048084C>ACA337852483AGRNc.3824C>A (p.Thr1275Asn)
c.3509C>A (p.Thr1170Asn)
c.3410C>A (p.Thr1137Asn)
c.2951C>A (p.Thr984Asn)
c.2090C>A (p.Thr697Asn)
n.3891C>A
n.3895C>A
 gnomAD v4
1g.1048084C>GCA337852485AGRNc.3824C>G (p.Thr1275Ser)
c.3509C>G (p.Thr1170Ser)
c.3410C>G (p.Thr1137Ser)
c.2951C>G (p.Thr984Ser)
c.2090C>G (p.Thr697Ser)
n.3891C>G
n.3895C>G
1g.1048084C>TCA337852487AGRNc.3824C>T (p.Thr1275Ile)
c.3509C>T (p.Thr1170Ile)
c.3410C>T (p.Thr1137Ile)
c.2951C>T (p.Thr984Ile)
c.2090C>T (p.Thr697Ile)
n.3891C>T
n.3895C>T
1g.1048085T>ACA415758053AGRNc.3825T>A (p.Thr1275=)
c.3510T>A (p.Thr1170=)
c.3411T>A (p.Thr1137=)
c.2952T>A (p.Thr984=)
c.2091T>A (p.Thr697=)
n.3892T>A
n.3896T>A
1g.1048085T>CCA415758054AGRNc.3825T>C (p.Thr1275=)
c.3510T>C (p.Thr1170=)
c.3411T>C (p.Thr1137=)
c.2952T>C (p.Thr984=)
c.2091T>C (p.Thr697=)
n.3892T>C
n.3896T>C
 ClinVar gnomAD v4
1g.1048085T>GCA415758055AGRNc.3825T>G (p.Thr1275=)
c.3510T>G (p.Thr1170=)
c.3411T>G (p.Thr1137=)
c.2952T>G (p.Thr984=)
c.2091T>G (p.Thr697=)
n.3892T>G
n.3896T>G
1g.1048086G>ACA337852489AGRNc.3826G>A (p.Ala1276Thr)
c.3511G>A (p.Ala1171Thr)
c.3412G>A (p.Ala1138Thr)
c.2953G>A (p.Ala985Thr)
c.2092G>A (p.Ala698Thr)
n.3893G>A
n.3897G>A
 gnomAD v4
1g.1048086G>CCA337852492AGRNc.3826G>C (p.Ala1276Pro)
c.3511G>C (p.Ala1171Pro)
c.3412G>C (p.Ala1138Pro)
c.2953G>C (p.Ala985Pro)
c.2092G>C (p.Ala698Pro)
n.3893G>C
n.3897G>C
 gnomAD v4
1g.1048086G>TCA337852501AGRNc.3826G>T (p.Ala1276Ser)
c.3511G>T (p.Ala1171Ser)
c.3412G>T (p.Ala1138Ser)
c.2953G>T (p.Ala985Ser)
c.2092G>T (p.Ala698Ser)
n.3893G>T
n.3897G>T
 gnomAD v4
1g.1048087C>ACA337852502AGRNc.3827C>A (p.Ala1276Glu)
c.3512C>A (p.Ala1171Glu)
c.3413C>A (p.Ala1138Glu)
c.2954C>A (p.Ala985Glu)
c.2093C>A (p.Ala698Glu)
n.3894C>A
n.3898C>A
 gnomAD v4
1g.1048087C=CA1148803602AGRNc.3827C= (p.Ala1276=)
c.3512C= (p.Ala1171=)
c.3413C= (p.Ala1138=)
c.2954C= (p.Ala985=)
c.2093C= (p.Ala698=)
n.3894C=
n.3898C=
1g.1048087C>GCA337852504AGRNc.3827C>G (p.Ala1276Gly)
c.3512C>G (p.Ala1171Gly)
c.3413C>G (p.Ala1138Gly)
c.2954C>G (p.Ala985Gly)
c.2093C>G (p.Ala698Gly)
n.3894C>G
n.3898C>G
1g.1048087C>TCA337852505AGRNc.3827C>T (p.Ala1276Val)
c.3512C>T (p.Ala1171Val)
c.3413C>T (p.Ala1138Val)
c.2954C>T (p.Ala985Val)
c.2093C>T (p.Ala698Val)
n.3894C>T
n.3898C>T
 dbSNP gnomAD v2 gnomAD v4
1g.1048088A=CA1148803609AGRNc.3828A= (p.Ala1276=)
c.3513A= (p.Ala1171=)
c.3414A= (p.Ala1138=)
c.2955A= (p.Ala985=)
c.2094A= (p.Ala698=)
n.3895A=
n.3899A=
1g.1048088A>CCA415758065AGRNc.3828A>C (p.Ala1276=)
c.3513A>C (p.Ala1171=)
c.3414A>C (p.Ala1138=)
c.2955A>C (p.Ala985=)
c.2094A>C (p.Ala698=)
n.3895A>C
n.3899A>C
1g.1048088A>GCA16760178AGRNc.3828A>G (p.Ala1276=)
c.3513A>G (p.Ala1171=)
c.3414A>G (p.Ala1138=)
c.2955A>G (p.Ala985=)
c.2094A>G (p.Ala698=)
n.3895A>G
n.3899A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1048088A>TCA415758068AGRNc.3828A>T (p.Ala1276=)
c.3513A>T (p.Ala1171=)
c.3414A>T (p.Ala1138=)
c.2955A>T (p.Ala985=)
c.2094A>T (p.Ala698=)
n.3895A>T
n.3899A>T
 gnomAD v4
1g.1048089T>ACA337852514AGRNc.3829T>A (p.Ser1277Thr)
c.3514T>A (p.Ser1172Thr)
c.3415T>A (p.Ser1139Thr)
c.2956T>A (p.Ser986Thr)
c.2095T>A (p.Ser699Thr)
n.3896T>A
n.3900T>A
1g.1048089T>CCA337852516AGRNc.3829T>C (p.Ser1277Pro)
c.3514T>C (p.Ser1172Pro)
c.3415T>C (p.Ser1139Pro)
c.2956T>C (p.Ser986Pro)
c.2095T>C (p.Ser699Pro)
n.3896T>C
n.3900T>C
 dbSNP gnomAD v2 gnomAD v4
1g.1048089T>GCA337852519AGRNc.3829T>G (p.Ser1277Ala)
c.3514T>G (p.Ser1172Ala)
c.3415T>G (p.Ser1139Ala)
c.2956T>G (p.Ser986Ala)
c.2095T>G (p.Ser699Ala)
n.3896T>G
n.3900T>G
1g.1048089T=CA1148803616AGRNc.3829T= (p.Ser1277=)
c.3514T= (p.Ser1172=)
c.3415T= (p.Ser1139=)
c.2956T= (p.Ser986=)
c.2095T= (p.Ser699=)
n.3896T=
n.3900T=
1g.1048090C>ACA337852528AGRNc.3830C>A (p.Ser1277Ter)
c.3515C>A (p.Ser1172Ter)
c.3416C>A (p.Ser1139Ter)
c.2957C>A (p.Ser986Ter)
c.2096C>A (p.Ser699Ter)
n.3897C>A
n.3901C>A
 gnomAD v4
1g.1048090C=CA1148436635AGRNc.3830C= (p.Ser1277=)
c.3515C= (p.Ser1172=)
c.3416C= (p.Ser1139=)
c.2957C= (p.Ser986=)
c.2096C= (p.Ser699=)
n.3897C=
n.3901C=
1g.1048090C>GCA337852525AGRNc.3830C>G (p.Ser1277Trp)
c.3515C>G (p.Ser1172Trp)
c.3416C>G (p.Ser1139Trp)
c.2957C>G (p.Ser986Trp)
c.2096C>G (p.Ser699Trp)
n.3897C>G
n.3901C>G
 gnomAD v4
1g.1048090C>TCA509252AGRNc.3830C>T (p.Ser1277Leu)
c.3515C>T (p.Ser1172Leu)
c.3416C>T (p.Ser1139Leu)
c.2957C>T (p.Ser986Leu)
c.2096C>T (p.Ser699Leu)
n.3897C>T
n.3901C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048091G>ACA415758077AGRNc.3831G>A (p.Ser1277=)
c.3516G>A (p.Ser1172=)
c.3417G>A (p.Ser1139=)
c.2958G>A (p.Ser986=)
c.2097G>A (p.Ser699=)
n.3898G>A
n.3902G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1048091G>CCA415758079AGRNc.3831G>C (p.Ser1277=)
c.3516G>C (p.Ser1172=)
c.3417G>C (p.Ser1139=)
c.2958G>C (p.Ser986=)
c.2097G>C (p.Ser699=)
n.3898G>C
n.3902G>C
1g.1048091G=CA1148803646AGRNc.3831G= (p.Ser1277=)
c.3516G= (p.Ser1172=)
c.3417G= (p.Ser1139=)
c.2958G= (p.Ser986=)
c.2097G= (p.Ser699=)
n.3898G=
n.3902G=
1g.1048091G>TCA415758080AGRNc.3831G>T (p.Ser1277=)
c.3516G>T (p.Ser1172=)
c.3417G>T (p.Ser1139=)
c.2958G>T (p.Ser986=)
c.2097G>T (p.Ser699=)
n.3898G>T
n.3902G>T
 gnomAD v4
1g.1048092C>ACA337852531AGRNc.3832C>A (p.Arg1278Ser)
c.3517C>A (p.Arg1173Ser)
c.3418C>A (p.Arg1140Ser)
c.2959C>A (p.Arg987Ser)
c.2098C>A (p.Arg700Ser)
n.3899C>A
n.3903C>A
 gnomAD v4
1g.1048092C=CA1148803662AGRNc.3832C= (p.Arg1278=)
c.3517C= (p.Arg1173=)
c.3418C= (p.Arg1140=)
c.2959C= (p.Arg987=)
c.2098C= (p.Arg700=)
n.3899C=
n.3903C=
1g.1048092C>GCA337852536AGRNc.3832C>G (p.Arg1278Gly)
c.3517C>G (p.Arg1173Gly)
c.3418C>G (p.Arg1140Gly)
c.2959C>G (p.Arg987Gly)
c.2098C>G (p.Arg700Gly)
n.3899C>G
n.3903C>G
 gnomAD v4
1g.1048092C>TCA509253AGRNc.3832C>T (p.Arg1278Cys)
c.3517C>T (p.Arg1173Cys)
c.3418C>T (p.Arg1140Cys)
c.2959C>T (p.Arg987Cys)
c.2098C>T (p.Arg700Cys)
n.3899C>T
n.3903C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1048093G>ACA509255AGRNc.3833G>A (p.Arg1278His)
c.3518G>A (p.Arg1173His)
c.3419G>A (p.Arg1140His)
c.2960G>A (p.Arg987His)
c.2099G>A (p.Arg700His)
n.3900G>A
n.3904G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1048093G>CCA337852552AGRNc.3833G>C (p.Arg1278Pro)
c.3518G>C (p.Arg1173Pro)
c.3419G>C (p.Arg1140Pro)
c.2960G>C (p.Arg987Pro)
c.2099G>C (p.Arg700Pro)
n.3900G>C
n.3904G>C
1g.1048093G=CA1145406299AGRNc.3833G= (p.Arg1278=)
c.3518G= (p.Arg1173=)
c.3419G= (p.Arg1140=)
c.2960G= (p.Arg987=)
c.2099G= (p.Arg700=)
n.3900G=
n.3904G=
1g.1048093G>TCA509254AGRNc.3833G>T (p.Arg1278Leu)
c.3518G>T (p.Arg1173Leu)
c.3419G>T (p.Arg1140Leu)
c.2960G>T (p.Arg987Leu)
c.2099G>T (p.Arg700Leu)
n.3900G>T
n.3904G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048094C>ACA415758086AGRNc.3834C>A (p.Arg1278=)
c.3519C>A (p.Arg1173=)
c.3420C>A (p.Arg1140=)
c.2961C>A (p.Arg987=)
c.2100C>A (p.Arg700=)
n.3901C>A
n.3905C>A
 gnomAD v4
1g.1048094C=CA1148803675AGRNc.3834C= (p.Arg1278=)
c.3519C= (p.Arg1173=)
c.3420C= (p.Arg1140=)
c.2961C= (p.Arg987=)
c.2100C= (p.Arg700=)
n.3901C=
n.3905C=
1g.1048094C>GCA415758088AGRNc.3834C>G (p.Arg1278=)
c.3519C>G (p.Arg1173=)
c.3420C>G (p.Arg1140=)
c.2961C>G (p.Arg987=)
c.2100C>G (p.Arg700=)
n.3901C>G
n.3905C>G
1g.1048094C>TCA509256AGRNc.3834C>T (p.Arg1278=)
c.3519C>T (p.Arg1173=)
c.3420C>T (p.Arg1140=)
c.2961C>T (p.Arg987=)
c.2100C>T (p.Arg700=)
n.3901C>T
n.3905C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048095C>ACA337852560AGRNc.3835C>A (p.Leu1279Met)
c.3520C>A (p.Leu1174Met)
c.3421C>A (p.Leu1141Met)
c.2962C>A (p.Leu988Met)
c.2101C>A (p.Leu701Met)
n.3902C>A
n.3906C>A
 gnomAD v4
1g.1048095C=CA1148803728AGRNc.3835C= (p.Leu1279=)
c.3520C= (p.Leu1174=)
c.3421C= (p.Leu1141=)
c.2962C= (p.Leu988=)
c.2101C= (p.Leu701=)
n.3902C=
n.3906C=
1g.1048095C>GCA337852562AGRNc.3835C>G (p.Leu1279Val)
c.3520C>G (p.Leu1174Val)
c.3421C>G (p.Leu1141Val)
c.2962C>G (p.Leu988Val)
c.2101C>G (p.Leu701Val)
n.3902C>G
n.3906C>G
1g.1048095C>TCA415758090AGRNc.3835C>T (p.Leu1279=)
c.3520C>T (p.Leu1174=)
c.3421C>T (p.Leu1141=)
c.2962C>T (p.Leu988=)
c.2101C>T (p.Leu701=)
n.3902C>T
n.3906C>T
 dbSNP gnomAD v3 gnomAD v4
1g.1048096T>ACA337852569AGRNc.3836T>A (p.Leu1279Gln)
c.3521T>A (p.Leu1174Gln)
c.3422T>A (p.Leu1141Gln)
c.2963T>A (p.Leu988Gln)
c.2102T>A (p.Leu701Gln)
n.3903T>A
n.3907T>A
 dbSNP gnomAD v2 gnomAD v4
1g.1048096T>CCA337852570AGRNc.3836T>C (p.Leu1279Pro)
c.3521T>C (p.Leu1174Pro)
c.3422T>C (p.Leu1141Pro)
c.2963T>C (p.Leu988Pro)
c.2102T>C (p.Leu701Pro)
n.3903T>C
n.3907T>C
 gnomAD v4
1g.1048096T>GCA337852575AGRNc.3836T>G (p.Leu1279Arg)
c.3521T>G (p.Leu1174Arg)
c.3422T>G (p.Leu1141Arg)
c.2963T>G (p.Leu988Arg)
c.2102T>G (p.Leu701Arg)
n.3903T>G
n.3907T>G
1g.1048096T=CA1148803736AGRNc.3836T= (p.Leu1279=)
c.3521T= (p.Leu1174=)
c.3422T= (p.Leu1141=)
c.2963T= (p.Leu988=)
c.2102T= (p.Leu701=)
n.3903T=
n.3907T=
1g.1048097G>ACA415758101AGRNc.3837G>A (p.Leu1279=)
c.3522G>A (p.Leu1174=)
c.3423G>A (p.Leu1141=)
c.2964G>A (p.Leu988=)
c.2103G>A (p.Leu701=)
n.3904G>A
n.3908G>A
 gnomAD v4
1g.1048097G>CCA415758098AGRNc.3837G>C (p.Leu1279=)
c.3522G>C (p.Leu1174=)
c.3423G>C (p.Leu1141=)
c.2964G>C (p.Leu988=)
c.2103G>C (p.Leu701=)
n.3904G>C
n.3908G>C
1g.1048097G>TCA415758100AGRNc.3837G>T (p.Leu1279=)
c.3522G>T (p.Leu1174=)
c.3423G>T (p.Leu1141=)
c.2964G>T (p.Leu988=)
c.2103G>T (p.Leu701=)
n.3904G>T
n.3908G>T
 gnomAD v4
1g.1048098C>ACA337852578AGRNc.3838C>A (p.Pro1280Thr)
c.3523C>A (p.Pro1175Thr)
c.3424C>A (p.Pro1142Thr)
c.2965C>A (p.Pro989Thr)
c.2104C>A (p.Pro702Thr)
n.3905C>A
n.3909C>A
 gnomAD v4
1g.1048098C=CA1146649680AGRNc.3838C= (p.Pro1280=)
c.3523C= (p.Pro1175=)
c.3424C= (p.Pro1142=)
c.2965C= (p.Pro989=)
c.2104C= (p.Pro702=)
n.3905C=
n.3909C=
1g.1048098C>GCA337852581AGRNc.3838C>G (p.Pro1280Ala)
c.3523C>G (p.Pro1175Ala)
c.3424C>G (p.Pro1142Ala)
c.2965C>G (p.Pro989Ala)
c.2104C>G (p.Pro702Ala)
n.3905C>G
n.3909C>G
 gnomAD v4
1g.1048098C>TCA16760185AGRNc.3838C>T (p.Pro1280Ser)
c.3523C>T (p.Pro1175Ser)
c.3424C>T (p.Pro1142Ser)
c.2965C>T (p.Pro989Ser)
c.2104C>T (p.Pro702Ser)
n.3905C>T
n.3909C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1048099C>ACA337852590AGRNc.3839C>A (p.Pro1280Gln)
c.3524C>A (p.Pro1175Gln)
c.3425C>A (p.Pro1142Gln)
c.2966C>A (p.Pro989Gln)
c.2105C>A (p.Pro702Gln)
n.3906C>A
n.3910C>A
 gnomAD v4
1g.1048099C=CA1148803759AGRNc.3839C= (p.Pro1280=)
c.3524C= (p.Pro1175=)
c.3425C= (p.Pro1142=)
c.2966C= (p.Pro989=)
c.2105C= (p.Pro702=)
n.3906C=
n.3910C=
1g.1048099C>GCA337852602AGRNc.3839C>G (p.Pro1280Arg)
c.3524C>G (p.Pro1175Arg)
c.3425C>G (p.Pro1142Arg)
c.2966C>G (p.Pro989Arg)
c.2105C>G (p.Pro702Arg)
n.3906C>G
n.3910C>G
1g.1048099C>TCA509257AGRNc.3839C>T (p.Pro1280Leu)
c.3524C>T (p.Pro1175Leu)
c.3425C>T (p.Pro1142Leu)
c.2966C>T (p.Pro989Leu)
c.2105C>T (p.Pro702Leu)
n.3906C>T
n.3910C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048100G>ACA509258AGRNc.3840G>A (p.Pro1280=)
c.3525G>A (p.Pro1175=)
c.3426G>A (p.Pro1142=)
c.2967G>A (p.Pro989=)
c.2106G>A (p.Pro702=)
n.3907G>A
n.3911G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048100G>CCA415758104AGRNc.3840G>C (p.Pro1280=)
c.3525G>C (p.Pro1175=)
c.3426G>C (p.Pro1142=)
c.2967G>C (p.Pro989=)
c.2106G>C (p.Pro702=)
n.3907G>C
n.3911G>C
1g.1048100G=CA1148803768AGRNc.3840G= (p.Pro1280=)
c.3525G= (p.Pro1175=)
c.3426G= (p.Pro1142=)
c.2967G= (p.Pro989=)
c.2106G= (p.Pro702=)
n.3907G=
n.3911G=
1g.1048100G>TCA415758105AGRNc.3840G>T (p.Pro1280=)
c.3525G>T (p.Pro1175=)
c.3426G>T (p.Pro1142=)
c.2967G>T (p.Pro989=)
c.2106G>T (p.Pro702=)
n.3907G>T
n.3911G>T
 dbSNP gnomAD v2 gnomAD v4
1g.1048101T>ACA337852607AGRNc.3841T>A (p.Ser1281Thr)
c.3526T>A (p.Ser1176Thr)
c.3427T>A (p.Ser1143Thr)
c.2968T>A (p.Ser990Thr)
c.2107T>A (p.Ser703Thr)
n.3908T>A
n.3912T>A
1g.1048101T>CCA337852611AGRNc.3841T>C (p.Ser1281Pro)
c.3526T>C (p.Ser1176Pro)
c.3427T>C (p.Ser1143Pro)
c.2968T>C (p.Ser990Pro)
c.2107T>C (p.Ser703Pro)
n.3908T>C
n.3912T>C
 gnomAD v4
1g.1048101T>GCA337852613AGRNc.3841T>G (p.Ser1281Ala)
c.3526T>G (p.Ser1176Ala)
c.3427T>G (p.Ser1143Ala)
c.2968T>G (p.Ser990Ala)
c.2107T>G (p.Ser703Ala)
n.3908T>G
n.3912T>G
1g.1048102C>ACA337852616AGRNc.3842C>A (p.Ser1281Tyr)
c.3527C>A (p.Ser1176Tyr)
c.3428C>A (p.Ser1143Tyr)
c.2969C>A (p.Ser990Tyr)
c.2108C>A (p.Ser703Tyr)
n.3909C>A
n.3913C>A
1g.1048102C=CA1148803782AGRNc.3842C= (p.Ser1281=)
c.3527C= (p.Ser1176=)
c.3428C= (p.Ser1143=)
c.2969C= (p.Ser990=)
c.2108C= (p.Ser703=)
n.3909C=
n.3913C=
1g.1048102C>GCA337852619AGRNc.3842C>G (p.Ser1281Cys)
c.3527C>G (p.Ser1176Cys)
c.3428C>G (p.Ser1143Cys)
c.2969C>G (p.Ser990Cys)
c.2108C>G (p.Ser703Cys)
n.3909C>G
n.3913C>G
1g.1048102C>TCA337852621AGRNc.3842C>T (p.Ser1281Phe)
c.3527C>T (p.Ser1176Phe)
c.3428C>T (p.Ser1143Phe)
c.2969C>T (p.Ser990Phe)
c.2108C>T (p.Ser703Phe)
n.3909C>T
n.3913C>T
 dbSNP gnomAD v2 gnomAD v4
1g.1048102_1048104delinsCCTCA1148803804AGRNc.3842_3844delinsCCT (p.Ser1281=)
c.3527_3529delinsCCT (p.Ser1176=)
c.3428_3430delinsCCT (p.Ser1143=)
c.2969_2971delinsCCT (p.Ser990=)
c.2108_2110delinsCCT (p.Ser703=)
n.3909_3911delinsCCT
n.3913_3915delinsCCT
1g.1048103C>ACA415758109AGRNc.3843C>A (p.Ser1281=)
c.3528C>A (p.Ser1176=)
c.3429C>A (p.Ser1143=)
c.2970C>A (p.Ser990=)
c.2109C>A (p.Ser703=)
n.3910C>A
n.3914C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1048103C=CA1148803812AGRNc.3843C= (p.Ser1281=)
c.3528C= (p.Ser1176=)
c.3429C= (p.Ser1143=)
c.2970C= (p.Ser990=)
c.2109C= (p.Ser703=)
n.3910C=
n.3914C=
1g.1048103C>GCA415758110AGRNc.3843C>G (p.Ser1281=)
c.3528C>G (p.Ser1176=)
c.3429C>G (p.Ser1143=)
c.2970C>G (p.Ser990=)
c.2109C>G (p.Ser703=)
n.3910C>G
n.3914C>G
1g.1048103C>TCA415758111AGRNc.3843C>T (p.Ser1281=)
c.3528C>T (p.Ser1176=)
c.3429C>T (p.Ser1143=)
c.2970C>T (p.Ser990=)
c.2109C>T (p.Ser703=)
n.3910C>T
n.3914C>T
 dbSNP gnomAD v4
1g.1048105_1048106delCA884898092AGRNc.3845_3846del (p.Ser1282CysfsTer?)
c.3530_3531del (p.Ser1177CysfsTer?)
c.3431_3432del (p.Ser1144CysfsTer?)
c.2972_2973del (p.Ser991CysfsTer?)
c.2111_2112del (p.Ser704CysfsTer?)
n.3912_3913del
n.3916_3917del
 dbSNP
1g.1048104T>ACA337852626AGRNc.3844T>A (p.Ser1282Thr)
c.3529T>A (p.Ser1177Thr)
c.3430T>A (p.Ser1144Thr)
c.2971T>A (p.Ser991Thr)
c.2110T>A (p.Ser704Thr)
n.3911T>A
n.3915T>A
1g.1048104T>CCA337852635AGRNc.3844T>C (p.Ser1282Pro)
c.3529T>C (p.Ser1177Pro)
c.3430T>C (p.Ser1144Pro)
c.2971T>C (p.Ser991Pro)
c.2110T>C (p.Ser704Pro)
n.3911T>C
n.3915T>C
 ClinVar dbSNP
1g.1048104T>GCA337852638AGRNc.3844T>G (p.Ser1282Ala)
c.3529T>G (p.Ser1177Ala)
c.3430T>G (p.Ser1144Ala)
c.2971T>G (p.Ser991Ala)
c.2110T>G (p.Ser704Ala)
n.3911T>G
n.3915T>G
1g.1048104T=CA1148803830AGRNc.3844T= (p.Ser1282=)
c.3529T= (p.Ser1177=)
c.3430T= (p.Ser1144=)
c.2971T= (p.Ser991=)
c.2110T= (p.Ser704=)
n.3911T=
n.3915T=
1g.1048105C>ACA337852651AGRNc.3845C>A (p.Ser1282Tyr)
c.3530C>A (p.Ser1177Tyr)
c.3431C>A (p.Ser1144Tyr)
c.2972C>A (p.Ser991Tyr)
c.2111C>A (p.Ser704Tyr)
n.3912C>A
n.3916C>A
 gnomAD v4
1g.1048105C>GCA337852655AGRNc.3845C>G (p.Ser1282Cys)
c.3530C>G (p.Ser1177Cys)
c.3431C>G (p.Ser1144Cys)
c.2972C>G (p.Ser991Cys)
c.2111C>G (p.Ser704Cys)
n.3912C>G
n.3916C>G
1g.1048105C>TCA337852641AGRNc.3845C>T (p.Ser1282Phe)
c.3530C>T (p.Ser1177Phe)
c.3431C>T (p.Ser1144Phe)
c.2972C>T (p.Ser991Phe)
c.2111C>T (p.Ser704Phe)
n.3912C>T
n.3916C>T
1g.1048106T>ACA415758122AGRNc.3846T>A (p.Ser1282=)
c.3531T>A (p.Ser1177=)
c.3432T>A (p.Ser1144=)
c.2973T>A (p.Ser991=)
c.2112T>A (p.Ser704=)
n.3913T>A
n.3917T>A
1g.1048106T>CCA415758121AGRNc.3846T>C (p.Ser1282=)
c.3531T>C (p.Ser1177=)
c.3432T>C (p.Ser1144=)
c.2973T>C (p.Ser991=)
c.2112T>C (p.Ser704=)
n.3913T>C
n.3917T>C
1g.1048106T>GCA415758120AGRNc.3846T>G (p.Ser1282=)
c.3531T>G (p.Ser1177=)
c.3432T>G (p.Ser1144=)
c.2973T>G (p.Ser991=)
c.2112T>G (p.Ser704=)
n.3913T>G
n.3917T>G
 gnomAD v4
1g.1048107G>ACA337852657AGRNc.3847G>A (p.Ala1283Thr)
c.3532G>A (p.Ala1178Thr)
c.3433G>A (p.Ala1145Thr)
c.2974G>A (p.Ala992Thr)
c.2113G>A (p.Ala705Thr)
n.3914G>A
n.3918G>A
 dbSNP gnomAD v4
1g.1048107G>CCA337852658AGRNc.3847G>C (p.Ala1283Pro)
c.3532G>C (p.Ala1178Pro)
c.3433G>C (p.Ala1145Pro)
c.2974G>C (p.Ala992Pro)
c.2113G>C (p.Ala705Pro)
n.3914G>C
n.3918G>C
1g.1048107G=CA1148803862AGRNc.3847G= (p.Ala1283=)
c.3532G= (p.Ala1178=)
c.3433G= (p.Ala1145=)
c.2974G= (p.Ala992=)
c.2113G= (p.Ala705=)
n.3914G=
n.3918G=
1g.1048107G>TCA509259AGRNc.3847G>T (p.Ala1283Ser)
c.3532G>T (p.Ala1178Ser)
c.3433G>T (p.Ala1145Ser)
c.2974G>T (p.Ala992Ser)
c.2113G>T (p.Ala705Ser)
n.3914G>T
n.3918G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1048108C>ACA337852661AGRNc.3848C>A (p.Ala1283Asp)
c.3533C>A (p.Ala1178Asp)
c.3434C>A (p.Ala1145Asp)
c.2975C>A (p.Ala992Asp)
c.2114C>A (p.Ala705Asp)
n.3915C>A
n.3919C>A
 gnomAD v4
1g.1048108C>GCA337852663AGRNc.3848C>G (p.Ala1283Gly)
c.3533C>G (p.Ala1178Gly)
c.3434C>G (p.Ala1145Gly)
c.2975C>G (p.Ala992Gly)
c.2114C>G (p.Ala705Gly)
n.3915C>G
n.3919C>G
1g.1048108C>TCA337852664AGRNc.3848C>T (p.Ala1283Val)
c.3533C>T (p.Ala1178Val)
c.3434C>T (p.Ala1145Val)
c.2975C>T (p.Ala992Val)
c.2114C>T (p.Ala705Val)
n.3915C>T
n.3919C>T
 gnomAD v4
1g.1048109T>ACA415758126AGRNc.3849T>A (p.Ala1283=)
c.3534T>A (p.Ala1178=)
c.3435T>A (p.Ala1145=)
c.2976T>A (p.Ala992=)
c.2115T>A (p.Ala705=)
n.3916T>A
n.3920T>A
1g.1048109T>CCA415758128AGRNc.3849T>C (p.Ala1283=)
c.3534T>C (p.Ala1178=)
c.3435T>C (p.Ala1145=)
c.2976T>C (p.Ala992=)
c.2115T>C (p.Ala705=)
n.3916T>C
n.3920T>C
1g.1048109T>GCA415758133AGRNc.3849T>G (p.Ala1283=)
c.3534T>G (p.Ala1178=)
c.3435T>G (p.Ala1145=)
c.2976T>G (p.Ala992=)
c.2115T>G (p.Ala705=)
n.3916T>G
n.3920T>G
1g.1048110G>ACA337852672AGRNc.3850G>A (p.Val1284Met)
c.3535G>A (p.Val1179Met)
c.3436G>A (p.Val1146Met)
c.2977G>A (p.Val993Met)
c.2116G>A (p.Val706Met)
n.3917G>A
n.3921G>A
 gnomAD v4
1g.1048110G>CCA337852674AGRNc.3850G>C (p.Val1284Leu)
c.3535G>C (p.Val1179Leu)
c.3436G>C (p.Val1146Leu)
c.2977G>C (p.Val993Leu)
c.2116G>C (p.Val706Leu)
n.3917G>C
n.3921G>C
1g.1048110G>TCA337852679AGRNc.3850G>T (p.Val1284Leu)
c.3535G>T (p.Val1179Leu)
c.3436G>T (p.Val1146Leu)
c.2977G>T (p.Val993Leu)
c.2116G>T (p.Val706Leu)
n.3917G>T
n.3921G>T
 gnomAD v4
1g.1048111T>ACA337852691AGRNc.3851T>A (p.Val1284Glu)
c.3536T>A (p.Val1179Glu)
c.3437T>A (p.Val1146Glu)
c.2978T>A (p.Val993Glu)
c.2117T>A (p.Val706Glu)
n.3918T>A
n.3922T>A
1g.1048111T>CCA337852694AGRNc.3851T>C (p.Val1284Ala)
c.3536T>C (p.Val1179Ala)
c.3437T>C (p.Val1146Ala)
c.2978T>C (p.Val993Ala)
c.2117T>C (p.Val706Ala)
n.3918T>C
n.3922T>C
1g.1048111T>GCA337852697AGRNc.3851T>G (p.Val1284Gly)
c.3536T>G (p.Val1179Gly)
c.3437T>G (p.Val1146Gly)
c.2978T>G (p.Val993Gly)
c.2117T>G (p.Val706Gly)
n.3918T>G
n.3922T>G
1g.1048112G>ACA415758142AGRNc.3852G>A (p.Val1284=)
c.3537G>A (p.Val1179=)
c.3438G>A (p.Val1146=)
c.2979G>A (p.Val993=)
c.2118G>A (p.Val706=)
n.3919G>A
n.3923G>A
1g.1048112G>CCA415758143AGRNc.3852G>C (p.Val1284=)
c.3537G>C (p.Val1179=)
c.3438G>C (p.Val1146=)
c.2979G>C (p.Val993=)
c.2118G>C (p.Val706=)
n.3919G>C
n.3923G>C
1g.1048112G>TCA415758144AGRNc.3852G>T (p.Val1284=)
c.3537G>T (p.Val1179=)
c.3438G>T (p.Val1146=)
c.2979G>T (p.Val993=)
c.2118G>T (p.Val706=)
n.3919G>T
n.3923G>T
 gnomAD v4
1g.1048113A>CCA337852702AGRNc.3853A>C (p.Thr1285Pro)
c.3538A>C (p.Thr1180Pro)
c.3439A>C (p.Thr1147Pro)
c.2980A>C (p.Thr994Pro)
c.2119A>C (p.Thr707Pro)
n.3920A>C
n.3924A>C
1g.1048113A>GCA337852704AGRNc.3853A>G (p.Thr1285Ala)
c.3538A>G (p.Thr1180Ala)
c.3439A>G (p.Thr1147Ala)
c.2980A>G (p.Thr994Ala)
c.2119A>G (p.Thr707Ala)
n.3920A>G
n.3924A>G
1g.1048113A>TCA337852700AGRNc.3853A>T (p.Thr1285Ser)
c.3538A>T (p.Thr1180Ser)
c.3439A>T (p.Thr1147Ser)
c.2980A>T (p.Thr994Ser)
c.2119A>T (p.Thr707Ser)
n.3920A>T
n.3924A>T
1g.1048114C>ACA337852707AGRNc.3854C>A (p.Thr1285Asn)
c.3539C>A (p.Thr1180Asn)
c.3440C>A (p.Thr1147Asn)
c.2981C>A (p.Thr994Asn)
c.2120C>A (p.Thr707Asn)
n.3921C>A
n.3925C>A
 gnomAD v4
1g.1048114C=CA1148803874AGRNc.3854C= (p.Thr1285=)
c.3539C= (p.Thr1180=)
c.3440C= (p.Thr1147=)
c.2981C= (p.Thr994=)
c.2120C= (p.Thr707=)
n.3921C=
n.3925C=
1g.1048114C>GCA337852708AGRNc.3854C>G (p.Thr1285Ser)
c.3539C>G (p.Thr1180Ser)
c.3440C>G (p.Thr1147Ser)
c.2981C>G (p.Thr994Ser)
c.2120C>G (p.Thr707Ser)
n.3921C>G
n.3925C>G
1g.1048114C>TCA337852710AGRNc.3854C>T (p.Thr1285Ile)
c.3539C>T (p.Thr1180Ile)
c.3440C>T (p.Thr1147Ile)
c.2981C>T (p.Thr994Ile)
c.2120C>T (p.Thr707Ile)
n.3921C>T
n.3925C>T
 dbSNP gnomAD v2 gnomAD v4
1g.1048115C>ACA509260AGRNc.3855C>A (p.Thr1285=)
c.3540C>A (p.Thr1180=)
c.3441C>A (p.Thr1147=)
c.2982C>A (p.Thr994=)
c.2121C>A (p.Thr707=)
n.3922C>A
n.3926C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1048115C=CA1148803877AGRNc.3855C= (p.Thr1285=)
c.3540C= (p.Thr1180=)
c.3441C= (p.Thr1147=)
c.2982C= (p.Thr994=)
c.2121C= (p.Thr707=)
n.3922C=
n.3926C=
1g.1048115C>GCA415758148AGRNc.3855C>G (p.Thr1285=)
c.3540C>G (p.Thr1180=)
c.3441C>G (p.Thr1147=)
c.2982C>G (p.Thr994=)
c.2121C>G (p.Thr707=)
n.3922C>G
n.3926C>G
1g.1048115C>TCA415758151AGRNc.3855C>T (p.Thr1285=)
c.3540C>T (p.Thr1180=)
c.3441C>T (p.Thr1147=)
c.2982C>T (p.Thr994=)
c.2121C>T (p.Thr707=)
n.3922C>T
n.3926C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1048116C>ACA337852711AGRNc.3856C>A (p.Pro1286Thr)
c.3541C>A (p.Pro1181Thr)
c.3442C>A (p.Pro1148Thr)
c.2983C>A (p.Pro995Thr)
c.2122C>A (p.Pro708Thr)
n.3923C>A
n.3927C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1048116C=CA1148803904AGRNc.3856C= (p.Pro1286=)
c.3541C= (p.Pro1181=)
c.3442C= (p.Pro1148=)
c.2983C= (p.Pro995=)
c.2122C= (p.Pro708=)
n.3923C=
n.3927C=
1g.1048116C>GCA337852713AGRNc.3856C>G (p.Pro1286Ala)
c.3541C>G (p.Pro1181Ala)
c.3442C>G (p.Pro1148Ala)
c.2983C>G (p.Pro995Ala)
c.2122C>G (p.Pro708Ala)
n.3923C>G
n.3927C>G
1g.1048116C>TCA509261AGRNc.3856C>T (p.Pro1286Ser)
c.3541C>T (p.Pro1181Ser)
c.3442C>T (p.Pro1148Ser)
c.2983C>T (p.Pro995Ser)
c.2122C>T (p.Pro708Ser)
n.3923C>T
n.3927C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.1048117C>ACA509262AGRNc.3857C>A (p.Pro1286His)
c.3542C>A (p.Pro1181His)
c.3443C>A (p.Pro1148His)
c.2984C>A (p.Pro995His)
c.2123C>A (p.Pro708His)
n.3924C>A
n.3928C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1048117C=CA1148803911AGRNc.3857C= (p.Pro1286=)
c.3542C= (p.Pro1181=)
c.3443C= (p.Pro1148=)
c.2984C= (p.Pro995=)
c.2123C= (p.Pro708=)
n.3924C=
n.3928C=
1g.1048117C>GCA337852718AGRNc.3857C>G (p.Pro1286Arg)
c.3542C>G (p.Pro1181Arg)
c.3443C>G (p.Pro1148Arg)
c.2984C>G (p.Pro995Arg)
c.2123C>G (p.Pro708Arg)
n.3924C>G
n.3928C>G
 dbSNP gnomAD v4
1g.1048117C>TCA337852716AGRNc.3857C>T (p.Pro1286Leu)
c.3542C>T (p.Pro1181Leu)
c.3443C>T (p.Pro1148Leu)
c.2984C>T (p.Pro995Leu)
c.2123C>T (p.Pro708Leu)
n.3924C>T
n.3928C>T
1g.1048118T>ACA415758156AGRNc.3858T>A (p.Pro1286=)
c.3543T>A (p.Pro1181=)
c.3444T>A (p.Pro1148=)
c.2985T>A (p.Pro995=)
c.2124T>A (p.Pro708=)
n.3925T>A
n.3929T>A
1g.1048118T>CCA415758159AGRNc.3858T>C (p.Pro1286=)
c.3543T>C (p.Pro1181=)
c.3444T>C (p.Pro1148=)
c.2985T>C (p.Pro995=)
c.2124T>C (p.Pro708=)
n.3925T>C
n.3929T>C
 gnomAD v4
1g.1048118T>GCA415758158AGRNc.3858T>G (p.Pro1286=)
c.3543T>G (p.Pro1181=)
c.3444T>G (p.Pro1148=)
c.2985T>G (p.Pro995=)
c.2124T>G (p.Pro708=)
n.3925T>G
n.3929T>G
1g.1048119C>ACA415758162AGRNc.3859C>A (p.Arg1287=)
c.3544C>A (p.Arg1182=)
c.3445C>A (p.Arg1149=)
c.2986C>A (p.Arg996=)
c.2125C>A (p.Arg709=)
n.3926C>A
n.3930C>A
 gnomAD v4
1g.1048119C=CA1148803921AGRNc.3859C= (p.Arg1287=)
c.3544C= (p.Arg1182=)
c.3445C= (p.Arg1149=)
c.2986C= (p.Arg996=)
c.2125C= (p.Arg709=)
n.3926C=
n.3930C=
1g.1048119C>GCA337852720AGRNc.3859C>G (p.Arg1287Gly)
c.3544C>G (p.Arg1182Gly)
c.3445C>G (p.Arg1149Gly)
c.2986C>G (p.Arg996Gly)
c.2125C>G (p.Arg709Gly)
n.3926C>G
n.3930C>G
1g.1048119C>TCA509263AGRNc.3859C>T (p.Arg1287Trp)
c.3544C>T (p.Arg1182Trp)
c.3445C>T (p.Arg1149Trp)
c.2986C>T (p.Arg996Trp)
c.2125C>T (p.Arg709Trp)
n.3926C>T
n.3930C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048120G>ACA337852723AGRNc.3860G>A (p.Arg1287Gln)
c.3545G>A (p.Arg1182Gln)
c.3446G>A (p.Arg1149Gln)
c.2987G>A (p.Arg996Gln)
c.2126G>A (p.Arg709Gln)
n.3927G>A
n.3931G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1048120G>CCA337852725AGRNc.3860G>C (p.Arg1287Pro)
c.3545G>C (p.Arg1182Pro)
c.3446G>C (p.Arg1149Pro)
c.2987G>C (p.Arg996Pro)
c.2126G>C (p.Arg709Pro)
n.3927G>C
n.3931G>C
1g.1048120G=CA1148803938AGRNc.3860G= (p.Arg1287=)
c.3545G= (p.Arg1182=)
c.3446G= (p.Arg1149=)
c.2987G= (p.Arg996=)
c.2126G= (p.Arg709=)
n.3927G=
n.3931G=
1g.1048120G>TCA337852726AGRNc.3860G>T (p.Arg1287Leu)
c.3545G>T (p.Arg1182Leu)
c.3446G>T (p.Arg1149Leu)
c.2987G>T (p.Arg996Leu)
c.2126G>T (p.Arg709Leu)
n.3927G>T
n.3931G>T
 gnomAD v4
1g.1048121G>ACA509264AGRNc.3861G>A (p.Arg1287=)
c.3546G>A (p.Arg1182=)
c.3447G>A (p.Arg1149=)
c.2988G>A (p.Arg996=)
c.2127G>A (p.Arg709=)
n.3928G>A
n.3932G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048121G>CCA415758169AGRNc.3861G>C (p.Arg1287=)
c.3546G>C (p.Arg1182=)
c.3447G>C (p.Arg1149=)
c.2988G>C (p.Arg996=)
c.2127G>C (p.Arg709=)
n.3928G>C
n.3932G>C
 gnomAD v4
1g.1048121G=CA1148803965AGRNc.3861G= (p.Arg1287=)
c.3546G= (p.Arg1182=)
c.3447G= (p.Arg1149=)
c.2988G= (p.Arg996=)
c.2127G= (p.Arg709=)
n.3928G=
n.3932G=
1g.1048121G>TCA415758171AGRNc.3861G>T (p.Arg1287=)
c.3546G>T (p.Arg1182=)
c.3447G>T (p.Arg1149=)
c.2988G>T (p.Arg996=)
c.2127G>T (p.Arg709=)
n.3928G>T
n.3932G>T
 gnomAD v4
1g.1048122G>ACA337852747AGRNc.3862G>A (p.Ala1288Thr)
c.3547G>A (p.Ala1183Thr)
c.3448G>A (p.Ala1150Thr)
c.2989G>A (p.Ala997Thr)
c.2128G>A (p.Ala710Thr)
n.3929G>A
n.3933G>A
 gnomAD v4
1g.1048122G>CCA337852727AGRNc.3862G>C (p.Ala1288Pro)
c.3547G>C (p.Ala1183Pro)
c.3448G>C (p.Ala1150Pro)
c.2989G>C (p.Ala997Pro)
c.2128G>C (p.Ala710Pro)
n.3929G>C
n.3933G>C
1g.1048122G>TCA337852754AGRNc.3862G>T (p.Ala1288Ser)
c.3547G>T (p.Ala1183Ser)
c.3448G>T (p.Ala1150Ser)
c.2989G>T (p.Ala997Ser)
c.2128G>T (p.Ala710Ser)
n.3929G>T
n.3933G>T
 gnomAD v4
1g.1048123C>ACA337852757AGRNc.3863C>A (p.Ala1288Asp)
c.3548C>A (p.Ala1183Asp)
c.3449C>A (p.Ala1150Asp)
c.2990C>A (p.Ala997Asp)
c.2129C>A (p.Ala710Asp)
n.3930C>A
n.3934C>A
 gnomAD v4
1g.1048123C>GCA337852761AGRNc.3863C>G (p.Ala1288Gly)
c.3548C>G (p.Ala1183Gly)
c.3449C>G (p.Ala1150Gly)
c.2990C>G (p.Ala997Gly)
c.2129C>G (p.Ala710Gly)
n.3930C>G
n.3934C>G
1g.1048123C>TCA337852759AGRNc.3863C>T (p.Ala1288Val)
c.3548C>T (p.Ala1183Val)
c.3449C>T (p.Ala1150Val)
c.2990C>T (p.Ala997Val)
c.2129C>T (p.Ala710Val)
n.3930C>T
n.3934C>T
 gnomAD v4
1g.1048126delCA2574258706AGRNc.3866del (p.Pro1289ArgfsTer?)
c.3551del (p.Pro1184ArgfsTer?)
c.3452del (p.Pro1151ArgfsTer?)
c.2993del (p.Pro998ArgfsTer?)
c.2132del (p.Pro711ArgfsTer?)
n.3933del
n.3937del
 gnomAD v4
1g.1048124C>ACA415758173AGRNc.3864C>A (p.Ala1288=)
c.3549C>A (p.Ala1183=)
c.3450C>A (p.Ala1150=)
c.2991C>A (p.Ala997=)
c.2130C>A (p.Ala710=)
n.3931C>A
n.3935C>A
1g.1048124C>GCA415758175AGRNc.3864C>G (p.Ala1288=)
c.3549C>G (p.Ala1183=)
c.3450C>G (p.Ala1150=)
c.2991C>G (p.Ala997=)
c.2130C>G (p.Ala710=)
n.3931C>G
n.3935C>G
1g.1048124C>TCA415758176AGRNc.3864C>T (p.Ala1288=)
c.3549C>T (p.Ala1183=)
c.3450C>T (p.Ala1150=)
c.2991C>T (p.Ala997=)
c.2130C>T (p.Ala710=)
n.3931C>T
n.3935C>T
 ClinVar
1g.1048125C>ACA337852762AGRNc.3865C>A (p.Pro1289Thr)
c.3550C>A (p.Pro1184Thr)
c.3451C>A (p.Pro1151Thr)
c.2992C>A (p.Pro998Thr)
c.2131C>A (p.Pro711Thr)
n.3932C>A
n.3936C>A
 gnomAD v4
1g.1048125C>GCA337852763AGRNc.3865C>G (p.Pro1289Ala)
c.3550C>G (p.Pro1184Ala)
c.3451C>G (p.Pro1151Ala)
c.2992C>G (p.Pro998Ala)
c.2131C>G (p.Pro711Ala)
n.3932C>G
n.3936C>G
1g.1048125C>TCA337852764AGRNc.3865C>T (p.Pro1289Ser)
c.3550C>T (p.Pro1184Ser)
c.3451C>T (p.Pro1151Ser)
c.2992C>T (p.Pro998Ser)
c.2131C>T (p.Pro711Ser)
n.3932C>T
n.3936C>T
 ClinVar dbSNP gnomAD v4
1g.1048126C>ACA337852765AGRNc.3866C>A (p.Pro1289Gln)
c.3551C>A (p.Pro1184Gln)
c.3452C>A (p.Pro1151Gln)
c.2993C>A (p.Pro998Gln)
c.2132C>A (p.Pro711Gln)
n.3933C>A
n.3937C>A
 gnomAD v4
1g.1048126C=CA1141670886AGRNc.3866C= (p.Pro1289=)
c.3551C= (p.Pro1184=)
c.3452C= (p.Pro1151=)
c.2993C= (p.Pro998=)
c.2132C= (p.Pro711=)
n.3933C=
n.3937C=
1g.1048126C>GCA337852766AGRNc.3866C>G (p.Pro1289Arg)
c.3551C>G (p.Pro1184Arg)
c.3452C>G (p.Pro1151Arg)
c.2993C>G (p.Pro998Arg)
c.2132C>G (p.Pro711Arg)
n.3933C>G
n.3937C>G
 gnomAD v4
1g.1048126C>TCA151645AGRNc.3866C>T (p.Pro1289Leu)
c.3551C>T (p.Pro1184Leu)
c.3452C>T (p.Pro1151Leu)
c.2993C>T (p.Pro998Leu)
c.2132C>T (p.Pro711Leu)
n.3933C>T
n.3937C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched