Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.1048193_1048231delCA2642492201AGRNc.3933_3971del (p.Thr1312_Pro1324del)
c.3618_3656del (p.Thr1207_Pro1219del)
c.3519_3557del (p.Thr1174_Pro1186del)
c.3060_3098del (p.Thr1021_Pro1033del)
c.2199_2237del (p.Thr734_Pro746del)
n.4000_4038del
n.4004_4042del
 gnomAD v4
1g.1048195_1048240delCA2642492202AGRNc.3935_3980del (p.Thr1312SerfsTer?)
c.3620_3665del (p.Thr1207SerfsTer?)
c.3521_3566del (p.Thr1174SerfsTer?)
c.3062_3107del (p.Thr1021SerfsTer?)
c.2201_2246del (p.Thr734SerfsTer?)
n.4002_4047del
n.4006_4051del
 gnomAD v4
1g.1048226_1048227delinsGCCA1148804903AGRNc.3966_3967delinsGC (p.Arg1322=)
c.3651_3652delinsGC (p.Arg1217=)
c.3552_3553delinsGC (p.Arg1184=)
c.3093_3094delinsGC (p.Arg1031=)
c.2232_2233delinsGC (p.Arg744=)
n.4033_4034delinsGC
n.4037_4038delinsGC
1g.1048227C>ACA337853181AGRNc.3967C>A (p.Pro1323Thr)
c.3652C>A (p.Pro1218Thr)
c.3553C>A (p.Pro1185Thr)
c.3094C>A (p.Pro1032Thr)
c.2233C>A (p.Pro745Thr)
n.4034C>A
n.4038C>A
 gnomAD v4
1g.1048227C=CA1148804913AGRNc.3967C= (p.Pro1323=)
c.3652C= (p.Pro1218=)
c.3553C= (p.Pro1185=)
c.3094C= (p.Pro1032=)
c.2233C= (p.Pro745=)
n.4034C=
n.4038C=
1g.1048227C>GCA337853182AGRNc.3967C>G (p.Pro1323Ala)
c.3652C>G (p.Pro1218Ala)
c.3553C>G (p.Pro1185Ala)
c.3094C>G (p.Pro1032Ala)
c.2233C>G (p.Pro745Ala)
n.4034C>G
n.4038C>G
1g.1048227C>TCA337853183AGRNc.3967C>T (p.Pro1323Ser)
c.3652C>T (p.Pro1218Ser)
c.3553C>T (p.Pro1185Ser)
c.3094C>T (p.Pro1032Ser)
c.2233C>T (p.Pro745Ser)
n.4034C>T
n.4038C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1048231dupCA2642492204AGRNc.3971dup (p.Ala1325GlyfsTer10)
c.3656dup (p.Ala1220GlyfsTer10)
c.3557dup (p.Ala1187GlyfsTer10)
c.3098dup (p.Ala1034GlyfsTer10)
c.2237dup (p.Ala747GlyfsTer10)
n.4038dup
n.4042dup
 gnomAD v4
1g.1048231delCA337853184AGRNc.3971del (p.Pro1324ArgfsTer?)
c.3656del (p.Pro1219ArgfsTer?)
c.3557del (p.Pro1186ArgfsTer?)
c.3098del (p.Pro1033ArgfsTer?)
c.2237del (p.Pro746ArgfsTer?)
n.4038del
n.4042del
 dbSNP gnomAD v2 gnomAD v4
1g.1048228C>ACA337853188AGRNc.3968C>A (p.Pro1323His)
c.3653C>A (p.Pro1218His)
c.3554C>A (p.Pro1185His)
c.3095C>A (p.Pro1032His)
c.2234C>A (p.Pro745His)
n.4035C>A
n.4039C>A
 gnomAD v4
1g.1048228C=CA1148804916AGRNc.3968C= (p.Pro1323=)
c.3653C= (p.Pro1218=)
c.3554C= (p.Pro1185=)
c.3095C= (p.Pro1032=)
c.2234C= (p.Pro745=)
n.4035C=
n.4039C=
1g.1048228C>GCA337853185AGRNc.3968C>G (p.Pro1323Arg)
c.3653C>G (p.Pro1218Arg)
c.3554C>G (p.Pro1185Arg)
c.3095C>G (p.Pro1032Arg)
c.2234C>G (p.Pro745Arg)
n.4035C>G
n.4039C>G
1g.1048228C>TCA337853187AGRNc.3968C>T (p.Pro1323Leu)
c.3653C>T (p.Pro1218Leu)
c.3554C>T (p.Pro1185Leu)
c.3095C>T (p.Pro1032Leu)
c.2234C>T (p.Pro745Leu)
n.4035C>T
n.4039C>T
 dbSNP gnomAD v3 gnomAD v4
1g.1048229C>ACA415758422AGRNc.3969C>A (p.Pro1323=)
c.3654C>A (p.Pro1218=)
c.3555C>A (p.Pro1185=)
c.3096C>A (p.Pro1032=)
c.2235C>A (p.Pro745=)
n.4036C>A
n.4040C>A
1g.1048229C=CA1148408860AGRNc.3969C= (p.Pro1323=)
c.3654C= (p.Pro1218=)
c.3555C= (p.Pro1185=)
c.3096C= (p.Pro1032=)
c.2235C= (p.Pro745=)
n.4036C=
n.4040C=
1g.1048229C>GCA415758423AGRNc.3969C>G (p.Pro1323=)
c.3654C>G (p.Pro1218=)
c.3555C>G (p.Pro1185=)
c.3096C>G (p.Pro1032=)
c.2235C>G (p.Pro745=)
n.4036C>G
n.4040C>G
1g.1048229C>TCA509293AGRNc.3969C>T (p.Pro1323=)
c.3654C>T (p.Pro1218=)
c.3555C>T (p.Pro1185=)
c.3096C>T (p.Pro1032=)
c.2235C>T (p.Pro745=)
n.4036C>T
n.4040C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1048230C>ACA337853190AGRNc.3970C>A (p.Pro1324Thr)
c.3655C>A (p.Pro1219Thr)
c.3556C>A (p.Pro1186Thr)
c.3097C>A (p.Pro1033Thr)
c.2236C>A (p.Pro746Thr)
n.4037C>A
n.4041C>A
 gnomAD v4
1g.1048230C>GCA337853192AGRNc.3970C>G (p.Pro1324Ala)
c.3655C>G (p.Pro1219Ala)
c.3556C>G (p.Pro1186Ala)
c.3097C>G (p.Pro1033Ala)
c.2236C>G (p.Pro746Ala)
n.4037C>G
n.4041C>G
1g.1048230C>TCA337853193AGRNc.3970C>T (p.Pro1324Ser)
c.3655C>T (p.Pro1219Ser)
c.3556C>T (p.Pro1186Ser)
c.3097C>T (p.Pro1033Ser)
c.2236C>T (p.Pro746Ser)
n.4037C>T
n.4041C>T
 gnomAD v4
1g.1048231C>ACA337853195AGRNc.3971C>A (p.Pro1324Gln)
c.3656C>A (p.Pro1219Gln)
c.3557C>A (p.Pro1186Gln)
c.3098C>A (p.Pro1033Gln)
c.2237C>A (p.Pro746Gln)
n.4038C>A
n.4042C>A
 gnomAD v4
1g.1048231C=CA1148804932AGRNc.3971C= (p.Pro1324=)
c.3656C= (p.Pro1219=)
c.3557C= (p.Pro1186=)
c.3098C= (p.Pro1033=)
c.2237C= (p.Pro746=)
n.4038C=
n.4042C=
1g.1048231C>GCA337853197AGRNc.3971C>G (p.Pro1324Arg)
c.3656C>G (p.Pro1219Arg)
c.3557C>G (p.Pro1186Arg)
c.3098C>G (p.Pro1033Arg)
c.2237C>G (p.Pro746Arg)
n.4038C>G
n.4042C>G
 gnomAD v4
1g.1048231C>TCA509294AGRNc.3971C>T (p.Pro1324Leu)
c.3656C>T (p.Pro1219Leu)
c.3557C>T (p.Pro1186Leu)
c.3098C>T (p.Pro1033Leu)
c.2237C>T (p.Pro746Leu)
n.4038C>T
n.4042C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048232G>ACA151651AGRNc.3972G>A (p.Pro1324=)
c.3657G>A (p.Pro1219=)
c.3558G>A (p.Pro1186=)
c.3099G>A (p.Pro1033=)
c.2238G>A (p.Pro746=)
n.4039G>A
n.4043G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048232G>CCA415758424AGRNc.3972G>C (p.Pro1324=)
c.3657G>C (p.Pro1219=)
c.3558G>C (p.Pro1186=)
c.3099G>C (p.Pro1033=)
c.2238G>C (p.Pro746=)
n.4039G>C
n.4043G>C
 dbSNP gnomAD v4
1g.1048232G=CA1143485538AGRNc.3972G= (p.Pro1324=)
c.3657G= (p.Pro1219=)
c.3558G= (p.Pro1186=)
c.3099G= (p.Pro1033=)
c.2238G= (p.Pro746=)
n.4039G=
n.4043G=
1g.1048232G>TCA415758425AGRNc.3972G>T (p.Pro1324=)
c.3657G>T (p.Pro1219=)
c.3558G>T (p.Pro1186=)
c.3099G>T (p.Pro1033=)
c.2238G>T (p.Pro746=)
n.4039G>T
n.4043G>T
 gnomAD v4
1g.1048233G>ACA337853200AGRNc.3973G>A (p.Ala1325Thr)
c.3658G>A (p.Ala1220Thr)
c.3559G>A (p.Ala1187Thr)
c.3100G>A (p.Ala1034Thr)
c.2239G>A (p.Ala747Thr)
n.4040G>A
n.4044G>A
 dbSNP gnomAD v3 gnomAD v4
1g.1048233G>CCA337853201AGRNc.3973G>C (p.Ala1325Pro)
c.3658G>C (p.Ala1220Pro)
c.3559G>C (p.Ala1187Pro)
c.3100G>C (p.Ala1034Pro)
c.2239G>C (p.Ala747Pro)
n.4040G>C
n.4044G>C
 gnomAD v4
1g.1048233G=CA1148804945AGRNc.3973G= (p.Ala1325=)
c.3658G= (p.Ala1220=)
c.3559G= (p.Ala1187=)
c.3100G= (p.Ala1034=)
c.2239G= (p.Ala747=)
n.4040G=
n.4044G=
1g.1048233G>TCA337853202AGRNc.3973G>T (p.Ala1325Ser)
c.3658G>T (p.Ala1220Ser)
c.3559G>T (p.Ala1187Ser)
c.3100G>T (p.Ala1034Ser)
c.2239G>T (p.Ala747Ser)
n.4040G>T
n.4044G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1048233_1048234delinsGCCA1148804948AGRNc.3973_3974delinsGC (p.Ala1325=)
c.3658_3659delinsGC (p.Ala1220=)
c.3559_3560delinsGC (p.Ala1187=)
c.3100_3101delinsGC (p.Ala1034=)
c.2239_2240delinsGC (p.Ala747=)
n.4040_4041delinsGC
n.4044_4045delinsGC
1g.1048233_1048239dupCA997655042AGRNc.3973_3979dup (p.Gln1327ArgfsTer10)
c.3658_3664dup (p.Gln1222ArgfsTer10)
c.3559_3565dup (p.Gln1189ArgfsTer10)
c.3100_3106dup (p.Gln1036ArgfsTer10)
c.2239_2245dup (p.Gln749ArgfsTer10)
n.4040_4046dup
n.4044_4050dup
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.1048234C>ACA337853204AGRNc.3974C>A (p.Ala1325Asp)
c.3659C>A (p.Ala1220Asp)
c.3560C>A (p.Ala1187Asp)
c.3101C>A (p.Ala1034Asp)
c.2240C>A (p.Ala747Asp)
n.4041C>A
n.4045C>A
 gnomAD v4
1g.1048234C=CA1148232085AGRNc.3974C= (p.Ala1325=)
c.3659C= (p.Ala1220=)
c.3560C= (p.Ala1187=)
c.3101C= (p.Ala1034=)
c.2240C= (p.Ala747=)
n.4041C=
n.4045C=
1g.1048234C>GCA337853205AGRNc.3974C>G (p.Ala1325Gly)
c.3659C>G (p.Ala1220Gly)
c.3560C>G (p.Ala1187Gly)
c.3101C>G (p.Ala1034Gly)
c.2240C>G (p.Ala747Gly)
n.4041C>G
n.4045C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1048234C>TCA509295AGRNc.3974C>T (p.Ala1325Val)
c.3659C>T (p.Ala1220Val)
c.3560C>T (p.Ala1187Val)
c.3101C>T (p.Ala1034Val)
c.2240C>T (p.Ala747Val)
n.4041C>T
n.4045C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048239dupCA2642492208AGRNc.3979dup (p.Gln1327ProfsTer8)
c.3664dup (p.Gln1222ProfsTer8)
c.3565dup (p.Gln1189ProfsTer8)
c.3106dup (p.Gln1036ProfsTer8)
c.2245dup (p.Gln749ProfsTer8)
n.4046dup
n.4050dup
 gnomAD v4
1g.1048239delCA520659142AGRNc.3979del (p.Gln1327SerfsTer?)
c.3664del (p.Gln1222SerfsTer?)
c.3565del (p.Gln1189SerfsTer?)
c.3106del (p.Gln1036SerfsTer?)
c.2245del (p.Gln749SerfsTer?)
n.4046del
n.4050del
 dbSNP gnomAD v2 gnomAD v4
1g.1048235C>ACA415758427AGRNc.3975C>A (p.Ala1325=)
c.3660C>A (p.Ala1220=)
c.3561C>A (p.Ala1187=)
c.3102C>A (p.Ala1034=)
c.2241C>A (p.Ala747=)
n.4042C>A
n.4046C>A
 ClinVar dbSNP gnomAD v4
1g.1048235C=CA1148804978AGRNc.3975C= (p.Ala1325=)
c.3660C= (p.Ala1220=)
c.3561C= (p.Ala1187=)
c.3102C= (p.Ala1034=)
c.2241C= (p.Ala747=)
n.4042C=
n.4046C=
1g.1048235C>GCA415758428AGRNc.3975C>G (p.Ala1325=)
c.3660C>G (p.Ala1220=)
c.3561C>G (p.Ala1187=)
c.3102C>G (p.Ala1034=)
c.2241C>G (p.Ala747=)
n.4042C>G
n.4046C>G
1g.1048235C>TCA509296AGRNc.3975C>T (p.Ala1325=)
c.3660C>T (p.Ala1220=)
c.3561C>T (p.Ala1187=)
c.3102C>T (p.Ala1034=)
c.2241C>T (p.Ala747=)
n.4042C>T
n.4046C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1048236C>ACA337853208AGRNc.3976C>A (p.Pro1326Thr)
c.3661C>A (p.Pro1221Thr)
c.3562C>A (p.Pro1188Thr)
c.3103C>A (p.Pro1035Thr)
c.2242C>A (p.Pro748Thr)
n.4043C>A
n.4047C>A
 gnomAD v4
1g.1048236C>GCA337853209AGRNc.3976C>G (p.Pro1326Ala)
c.3661C>G (p.Pro1221Ala)
c.3562C>G (p.Pro1188Ala)
c.3103C>G (p.Pro1035Ala)
c.2242C>G (p.Pro748Ala)
n.4043C>G
n.4047C>G
1g.1048236C>TCA337853211AGRNc.3976C>T (p.Pro1326Ser)
c.3661C>T (p.Pro1221Ser)
c.3562C>T (p.Pro1188Ser)
c.3103C>T (p.Pro1035Ser)
c.2242C>T (p.Pro748Ser)
n.4043C>T
n.4047C>T
 gnomAD v4
1g.1048237C>ACA509297AGRNc.3977C>A (p.Pro1326His)
c.3662C>A (p.Pro1221His)
c.3563C>A (p.Pro1188His)
c.3104C>A (p.Pro1035His)
c.2243C>A (p.Pro748His)
n.4044C>A
n.4048C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.1048237C=CA1148804999AGRNc.3977C= (p.Pro1326=)
c.3662C= (p.Pro1221=)
c.3563C= (p.Pro1188=)
c.3104C= (p.Pro1035=)
c.2243C= (p.Pro748=)
n.4044C=
n.4048C=
1g.1048237C>GCA337853215AGRNc.3977C>G (p.Pro1326Arg)
c.3662C>G (p.Pro1221Arg)
c.3563C>G (p.Pro1188Arg)
c.3104C>G (p.Pro1035Arg)
c.2243C>G (p.Pro748Arg)
n.4044C>G
n.4048C>G
1g.1048237C>TCA337853213AGRNc.3977C>T (p.Pro1326Leu)
c.3662C>T (p.Pro1221Leu)
c.3563C>T (p.Pro1188Leu)
c.3104C>T (p.Pro1035Leu)
c.2243C>T (p.Pro748Leu)
n.4044C>T
n.4048C>T
 gnomAD v4
1g.1048238C>ACA415758429AGRNc.3978C>A (p.Pro1326=)
c.3663C>A (p.Pro1221=)
c.3564C>A (p.Pro1188=)
c.3105C>A (p.Pro1035=)
c.2244C>A (p.Pro748=)
n.4045C>A
n.4049C>A
 gnomAD v4
1g.1048238C>GCA415758432AGRNc.3978C>G (p.Pro1326=)
c.3663C>G (p.Pro1221=)
c.3564C>G (p.Pro1188=)
c.3105C>G (p.Pro1035=)
c.2244C>G (p.Pro748=)
n.4045C>G
n.4049C>G
1g.1048238C>TCA415758430AGRNc.3978C>T (p.Pro1326=)
c.3663C>T (p.Pro1221=)
c.3564C>T (p.Pro1188=)
c.3105C>T (p.Pro1035=)
c.2244C>T (p.Pro748=)
n.4045C>T
n.4049C>T
 gnomAD v4
1g.1048239C>ACA337853216AGRNc.3979C>A (p.Gln1327Lys)
c.3664C>A (p.Gln1222Lys)
c.3565C>A (p.Gln1189Lys)
c.3106C>A (p.Gln1036Lys)
c.2245C>A (p.Gln749Lys)
n.4046C>A
n.4050C>A
 gnomAD v4
1g.1048239C>GCA337853219AGRNc.3979C>G (p.Gln1327Glu)
c.3664C>G (p.Gln1222Glu)
c.3565C>G (p.Gln1189Glu)
c.3106C>G (p.Gln1036Glu)
c.2245C>G (p.Gln749Glu)
n.4046C>G
n.4050C>G
1g.1048239C>TCA337853218AGRNc.3979C>T (p.Gln1327Ter)
c.3664C>T (p.Gln1222Ter)
c.3565C>T (p.Gln1189Ter)
c.3106C>T (p.Gln1036Ter)
c.2245C>T (p.Gln749Ter)
n.4046C>T
n.4050C>T
 dbSNP gnomAD v4
1g.1048240A=CA1148805025AGRNc.3980A= (p.Gln1327=)
c.3665A= (p.Gln1222=)
c.3566A= (p.Gln1189=)
c.3107A= (p.Gln1036=)
c.2246A= (p.Gln749=)
n.4047A=
n.4051A=
1g.1048240A>CCA337853220AGRNc.3980A>C (p.Gln1327Pro)
c.3665A>C (p.Gln1222Pro)
c.3566A>C (p.Gln1189Pro)
c.3107A>C (p.Gln1036Pro)
c.2246A>C (p.Gln749Pro)
n.4047A>C
n.4051A>C
1g.1048240A>GCA16760355AGRNc.3980A>G (p.Gln1327Arg)
c.3665A>G (p.Gln1222Arg)
c.3566A>G (p.Gln1189Arg)
c.3107A>G (p.Gln1036Arg)
c.2246A>G (p.Gln749Arg)
n.4047A>G
n.4051A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1048240A>TCA337853222AGRNc.3980A>T (p.Gln1327Leu)
c.3665A>T (p.Gln1222Leu)
c.3566A>T (p.Gln1189Leu)
c.3107A>T (p.Gln1036Leu)
c.2246A>T (p.Gln749Leu)
n.4047A>T
n.4051A>T
1g.1048241G>ACA415758433AGRNc.3981G>A (p.Gln1327=)
c.3666G>A (p.Gln1222=)
c.3567G>A (p.Gln1189=)
c.3108G>A (p.Gln1036=)
c.2247G>A (p.Gln749=)
n.4048G>A
n.4052G>A
 gnomAD v4
1g.1048241G>CCA337853223AGRNc.3981G>C (p.Gln1327His)
c.3666G>C (p.Gln1222His)
c.3567G>C (p.Gln1189His)
c.3108G>C (p.Gln1036His)
c.2247G>C (p.Gln749His)
n.4048G>C
n.4052G>C
1g.1048241G>TCA337853224AGRNc.3981G>T (p.Gln1327His)
c.3666G>T (p.Gln1222His)
c.3567G>T (p.Gln1189His)
c.3108G>T (p.Gln1036His)
c.2247G>T (p.Gln749His)
n.4048G>T
n.4052G>T
 gnomAD v4
1g.1048242C>ACA337853226AGRNc.3982C>A (p.Gln1328Lys)
c.3667C>A (p.Gln1223Lys)
c.3568C>A (p.Gln1190Lys)
c.3109C>A (p.Gln1037Lys)
c.2248C>A (p.Gln750Lys)
n.4049C>A
n.4053C>A
 dbSNP gnomAD v4
1g.1048242C=CA1148805039AGRNc.3982C= (p.Gln1328=)
c.3667C= (p.Gln1223=)
c.3568C= (p.Gln1190=)
c.3109C= (p.Gln1037=)
c.2248C= (p.Gln750=)
n.4049C=
n.4053C=
1g.1048242C>GCA337853228AGRNc.3982C>G (p.Gln1328Glu)
c.3667C>G (p.Gln1223Glu)
c.3568C>G (p.Gln1190Glu)
c.3109C>G (p.Gln1037Glu)
c.2248C>G (p.Gln750Glu)
n.4049C>G
n.4053C>G
1g.1048242C>TCA337853230AGRNc.3982C>T (p.Gln1328Ter)
c.3667C>T (p.Gln1223Ter)
c.3568C>T (p.Gln1190Ter)
c.3109C>T (p.Gln1037Ter)
c.2248C>T (p.Gln750Ter)
n.4049C>T
n.4053C>T
 gnomAD v4
1g.1048243A=CA1148805065AGRNc.3983A= (p.Gln1328=)
c.3668A= (p.Gln1223=)
c.3569A= (p.Gln1190=)
c.3110A= (p.Gln1037=)
c.2249A= (p.Gln750=)
n.4050A=
n.4054A=
1g.1048243A>CCA337853231AGRNc.3983A>C (p.Gln1328Pro)
c.3668A>C (p.Gln1223Pro)
c.3569A>C (p.Gln1190Pro)
c.3110A>C (p.Gln1037Pro)
c.2249A>C (p.Gln750Pro)
n.4050A>C
n.4054A>C
1g.1048243A>GCA337853233AGRNc.3983A>G (p.Gln1328Arg)
c.3668A>G (p.Gln1223Arg)
c.3569A>G (p.Gln1190Arg)
c.3110A>G (p.Gln1037Arg)
c.2249A>G (p.Gln750Arg)
n.4050A>G
n.4054A>G
 gnomAD v4
1g.1048243A>TCA337853234AGRNc.3983A>T (p.Gln1328Leu)
c.3668A>T (p.Gln1223Leu)
c.3569A>T (p.Gln1190Leu)
c.3110A>T (p.Gln1037Leu)
c.2249A>T (p.Gln750Leu)
n.4050A>T
n.4054A>T
1g.1048243_1048244insCTCA337853235AGRNc.3983_3984insCT (p.Gln1328HisfsTer?)
c.3668_3669insCT (p.Gln1223HisfsTer?)
c.3569_3570insCT (p.Gln1190HisfsTer?)
c.3110_3111insCT (p.Gln1037HisfsTer?)
c.2249_2250insCT (p.Gln750HisfsTer?)
n.4050_4051insCT
n.4054_4055insCT
 dbSNP
1g.1048244G>ACA415758437AGRNc.3984G>A (p.Gln1328=)
c.3669G>A (p.Gln1223=)
c.3570G>A (p.Gln1190=)
c.3111G>A (p.Gln1037=)
c.2250G>A (p.Gln750=)
n.4051G>A
n.4055G>A
 ClinVar dbSNP gnomAD v4
1g.1048244G>CCA337853236AGRNc.3984G>C (p.Gln1328His)
c.3669G>C (p.Gln1223His)
c.3570G>C (p.Gln1190His)
c.3111G>C (p.Gln1037His)
c.2250G>C (p.Gln750His)
n.4051G>C
n.4055G>C
1g.1048244G=CA1148805070AGRNc.3984G= (p.Gln1328=)
c.3669G= (p.Gln1223=)
c.3570G= (p.Gln1190=)
c.3111G= (p.Gln1037=)
c.2250G= (p.Gln750=)
n.4051G=
n.4055G=
1g.1048244G>TCA16760359AGRNc.3984G>T (p.Gln1328His)
c.3669G>T (p.Gln1223His)
c.3570G>T (p.Gln1190His)
c.3111G>T (p.Gln1037His)
c.2250G>T (p.Gln750His)
n.4051G>T
n.4055G>T
 dbSNP gnomAD v4
1g.1048245C>ACA337853237AGRNc.3985C>A (p.Pro1329Thr)
c.3670C>A (p.Pro1224Thr)
c.3571C>A (p.Pro1191Thr)
c.3112C>A (p.Pro1038Thr)
c.2251C>A (p.Pro751Thr)
n.4052C>A
n.4056C>A
 gnomAD v4
1g.1048245C=CA1148805083AGRNc.3985C= (p.Pro1329=)
c.3670C= (p.Pro1224=)
c.3571C= (p.Pro1191=)
c.3112C= (p.Pro1038=)
c.2251C= (p.Pro751=)
n.4052C=
n.4056C=
1g.1048245C>GCA509298AGRNc.3985C>G (p.Pro1329Ala)
c.3670C>G (p.Pro1224Ala)
c.3571C>G (p.Pro1191Ala)
c.3112C>G (p.Pro1038Ala)
c.2251C>G (p.Pro751Ala)
n.4052C>G
n.4056C>G
 dbSNP ExAC gnomAD v3 gnomAD v4
1g.1048245C>TCA337853239AGRNc.3985C>T (p.Pro1329Ser)
c.3670C>T (p.Pro1224Ser)
c.3571C>T (p.Pro1191Ser)
c.3112C>T (p.Pro1038Ser)
c.2251C>T (p.Pro751Ser)
n.4052C>T
n.4056C>T
 dbSNP gnomAD v2 gnomAD v4
1g.1048246C>ACA337853244AGRNc.3986C>A (p.Pro1329His)
c.3671C>A (p.Pro1224His)
c.3572C>A (p.Pro1191His)
c.3113C>A (p.Pro1038His)
c.2252C>A (p.Pro751His)
n.4053C>A
n.4057C>A
 gnomAD v4
1g.1048246C=CA1148805149AGRNc.3986C= (p.Pro1329=)
c.3671C= (p.Pro1224=)
c.3572C= (p.Pro1191=)
c.3113C= (p.Pro1038=)
c.2252C= (p.Pro751=)
n.4053C=
n.4057C=
1g.1048246C>GCA337853245AGRNc.3986C>G (p.Pro1329Arg)
c.3671C>G (p.Pro1224Arg)
c.3572C>G (p.Pro1191Arg)
c.3113C>G (p.Pro1038Arg)
c.2252C>G (p.Pro751Arg)
n.4053C>G
n.4057C>G
 gnomAD v4
1g.1048246C>TCA337853246AGRNc.3986C>T (p.Pro1329Leu)
c.3671C>T (p.Pro1224Leu)
c.3572C>T (p.Pro1191Leu)
c.3113C>T (p.Pro1038Leu)
c.2252C>T (p.Pro751Leu)
n.4053C>T
n.4057C>T
 dbSNP gnomAD v3 gnomAD v4
1g.1048247T>ACA415758440AGRNc.3987T>A (p.Pro1329=)
c.3672T>A (p.Pro1224=)
c.3573T>A (p.Pro1191=)
c.3114T>A (p.Pro1038=)
c.2253T>A (p.Pro751=)
n.4054T>A
n.4058T>A
 gnomAD v4
1g.1048247T>CCA415758439AGRNc.3987T>C (p.Pro1329=)
c.3672T>C (p.Pro1224=)
c.3573T>C (p.Pro1191=)
c.3114T>C (p.Pro1038=)
c.2253T>C (p.Pro751=)
n.4054T>C
n.4058T>C
 gnomAD v4
1g.1048247T>GCA415758438AGRNc.3987T>G (p.Pro1329=)
c.3672T>G (p.Pro1224=)
c.3573T>G (p.Pro1191=)
c.3114T>G (p.Pro1038=)
c.2253T>G (p.Pro751=)
n.4054T>G
n.4058T>G
1g.1048248C>ACA337853247AGRNc.3988C>A (p.Pro1330Thr)
c.3673C>A (p.Pro1225Thr)
c.3574C>A (p.Pro1192Thr)
c.3115C>A (p.Pro1039Thr)
c.2254C>A (p.Pro752Thr)
n.4055C>A
n.4059C>A
 gnomAD v4
1g.1048248C=CA1148805157AGRNc.3988C= (p.Pro1330=)
c.3673C= (p.Pro1225=)
c.3574C= (p.Pro1192=)
c.3115C= (p.Pro1039=)
c.2254C= (p.Pro752=)
n.4055C=
n.4059C=
1g.1048248C>GCA337853248AGRNc.3988C>G (p.Pro1330Ala)
c.3673C>G (p.Pro1225Ala)
c.3574C>G (p.Pro1192Ala)
c.3115C>G (p.Pro1039Ala)
c.2254C>G (p.Pro752Ala)
n.4055C>G
n.4059C>G
1g.1048248C>TCA16760363AGRNc.3988C>T (p.Pro1330Ser)
c.3673C>T (p.Pro1225Ser)
c.3574C>T (p.Pro1192Ser)
c.3115C>T (p.Pro1039Ser)
c.2254C>T (p.Pro752Ser)
n.4055C>T
n.4059C>T
 dbSNP gnomAD v2
1g.1048249C>ACA337853249AGRNc.3989C>A (p.Pro1330Gln)
c.3674C>A (p.Pro1225Gln)
c.3575C>A (p.Pro1192Gln)
c.3116C>A (p.Pro1039Gln)
c.2255C>A (p.Pro752Gln)
n.4056C>A
n.4060C>A
 gnomAD v4
1g.1048249C>GCA337853250AGRNc.3989C>G (p.Pro1330Arg)
c.3674C>G (p.Pro1225Arg)
c.3575C>G (p.Pro1192Arg)
c.3116C>G (p.Pro1039Arg)
c.2255C>G (p.Pro752Arg)
n.4056C>G
n.4060C>G
 gnomAD v4
1g.1048249C>TCA337853251AGRNc.3989C>T (p.Pro1330Leu)
c.3674C>T (p.Pro1225Leu)
c.3575C>T (p.Pro1192Leu)
c.3116C>T (p.Pro1039Leu)
c.2255C>T (p.Pro752Leu)
n.4056C>T
n.4060C>T
 gnomAD v4
1g.1048249_1048251delinsCAACA1148805163AGRNc.3989_3991delinsCAA (p.Pro1330=)
c.3674_3676delinsCAA (p.Pro1225=)
c.3575_3577delinsCAA (p.Pro1192=)
c.3116_3118delinsCAA (p.Pro1039=)
c.2255_2257delinsCAA (p.Pro752=)
n.4056_4058delinsCAA
n.4060_4062delinsCAA
1g.1048250A>CCA415758441AGRNc.3990A>C (p.Pro1330=)
c.3675A>C (p.Pro1225=)
c.3576A>C (p.Pro1192=)
c.3117A>C (p.Pro1039=)
c.2256A>C (p.Pro752=)
n.4057A>C
n.4061A>C
1g.1048250A>GCA415758442AGRNc.3990A>G (p.Pro1330=)
c.3675A>G (p.Pro1225=)
c.3576A>G (p.Pro1192=)
c.3117A>G (p.Pro1039=)
c.2256A>G (p.Pro752=)
n.4057A>G
n.4061A>G
 dbSNP gnomAD v4
1g.1048250A>TCA415758443AGRNc.3990A>T (p.Pro1330=)
c.3675A>T (p.Pro1225=)
c.3576A>T (p.Pro1192=)
c.3117A>T (p.Pro1039=)
c.2256A>T (p.Pro752=)
n.4057A>T
n.4061A>T
1g.1048252delCA2574258718AGRNc.3992del (p.Lys1331SerfsTer?)
c.3677del (p.Lys1226SerfsTer?)
c.3578del (p.Lys1193SerfsTer?)
c.3119del (p.Lys1040SerfsTer?)
c.2258del (p.Lys753SerfsTer?)
n.4059del
n.4063del
 gnomAD v4
1g.1048251_1048252delCA337853252AGRNc.3991_3992del (p.Lys1331AlafsTer3)
c.3676_3677del (p.Lys1226AlafsTer3)
c.3577_3578del (p.Lys1193AlafsTer3)
c.3118_3119del (p.Lys1040AlafsTer3)
c.2257_2258del (p.Lys753AlafsTer3)
n.4058_4059del
n.4062_4063del
 dbSNP
1g.1048251A>CCA337853254AGRNc.3991A>C (p.Lys1331Gln)
c.3676A>C (p.Lys1226Gln)
c.3577A>C (p.Lys1193Gln)
c.3118A>C (p.Lys1040Gln)
c.2257A>C (p.Lys753Gln)
n.4058A>C
n.4062A>C
1g.1048251A>GCA337853255AGRNc.3991A>G (p.Lys1331Glu)
c.3676A>G (p.Lys1226Glu)
c.3577A>G (p.Lys1193Glu)
c.3118A>G (p.Lys1040Glu)
c.2257A>G (p.Lys753Glu)
n.4058A>G
n.4062A>G
 gnomAD v4
1g.1048251A>TCA337853253AGRNc.3991A>T (p.Lys1331Ter)
c.3676A>T (p.Lys1226Ter)
c.3577A>T (p.Lys1193Ter)
c.3118A>T (p.Lys1040Ter)
c.2257A>T (p.Lys753Ter)
n.4058A>T
n.4062A>T
1g.1048252A>CCA337853256AGRNc.3992A>C (p.Lys1331Thr)
c.3677A>C (p.Lys1226Thr)
c.3578A>C (p.Lys1193Thr)
c.3119A>C (p.Lys1040Thr)
c.2258A>C (p.Lys753Thr)
n.4059A>C
n.4063A>C
1g.1048252A>GCA337853257AGRNc.3992A>G (p.Lys1331Arg)
c.3677A>G (p.Lys1226Arg)
c.3578A>G (p.Lys1193Arg)
c.3119A>G (p.Lys1040Arg)
c.2258A>G (p.Lys753Arg)
n.4059A>G
n.4063A>G
 gnomAD v4
1g.1048252A>TCA337853258AGRNc.3992A>T (p.Lys1331Met)
c.3677A>T (p.Lys1226Met)
c.3578A>T (p.Lys1193Met)
c.3119A>T (p.Lys1040Met)
c.2258A>T (p.Lys753Met)
n.4059A>T
n.4063A>T
1g.1048253G>ACA415758446AGRNc.3993G>A (p.Lys1331=)
c.3678G>A (p.Lys1226=)
c.3579G>A (p.Lys1193=)
c.3120G>A (p.Lys1040=)
c.2259G>A (p.Lys753=)
n.4060G>A
n.4064G>A
 gnomAD v4
1g.1048253G>CCA337853259AGRNc.3993G>C (p.Lys1331Asn)
c.3678G>C (p.Lys1226Asn)
c.3579G>C (p.Lys1193Asn)
c.3120G>C (p.Lys1040Asn)
c.2259G>C (p.Lys753Asn)
n.4060G>C
n.4064G>C
1g.1048253G>TCA337853260AGRNc.3993G>T (p.Lys1331Asn)
c.3678G>T (p.Lys1226Asn)
c.3579G>T (p.Lys1193Asn)
c.3120G>T (p.Lys1040Asn)
c.2259G>T (p.Lys753Asn)
n.4060G>T
n.4064G>T
 gnomAD v4
1g.1048254C>ACA337853261AGRNc.3994C>A (p.Pro1332Thr)
c.3679C>A (p.Pro1227Thr)
c.3580C>A (p.Pro1194Thr)
c.3121C>A (p.Pro1041Thr)
c.2260C>A (p.Pro754Thr)
n.4061C>A
n.4065C>A
 dbSNP gnomAD v3 gnomAD v4
1g.1048254C=CA1148805172AGRNc.3994C= (p.Pro1332=)
c.3679C= (p.Pro1227=)
c.3580C= (p.Pro1194=)
c.3121C= (p.Pro1041=)
c.2260C= (p.Pro754=)
n.4061C=
n.4065C=
1g.1048254C>GCA337853262AGRNc.3994C>G (p.Pro1332Ala)
c.3679C>G (p.Pro1227Ala)
c.3580C>G (p.Pro1194Ala)
c.3121C>G (p.Pro1041Ala)
c.2260C>G (p.Pro754Ala)
n.4061C>G
n.4065C>G
1g.1048254C>TCA337853263AGRNc.3994C>T (p.Pro1332Ser)
c.3679C>T (p.Pro1227Ser)
c.3580C>T (p.Pro1194Ser)
c.3121C>T (p.Pro1041Ser)
c.2260C>T (p.Pro754Ser)
n.4061C>T
n.4065C>T
 gnomAD v4
1g.1048255C>ACA337853264AGRNc.3995C>A (p.Pro1332His)
c.3680C>A (p.Pro1227His)
c.3581C>A (p.Pro1194His)
c.3122C>A (p.Pro1041His)
c.2261C>A (p.Pro754His)
n.4062C>A
n.4066C>A
 gnomAD v4
1g.1048255C=CA1145131850AGRNc.3995C= (p.Pro1332=)
c.3680C= (p.Pro1227=)
c.3581C= (p.Pro1194=)
c.3122C= (p.Pro1041=)
c.2261C= (p.Pro754=)
n.4062C=
n.4066C=
1g.1048255C>GCA337853265AGRNc.3995C>G (p.Pro1332Arg)
c.3680C>G (p.Pro1227Arg)
c.3581C>G (p.Pro1194Arg)
c.3122C>G (p.Pro1041Arg)
c.2261C>G (p.Pro754Arg)
n.4062C>G
n.4066C>G
1g.1048255C>TCA16760366AGRNc.3995C>T (p.Pro1332Leu)
c.3680C>T (p.Pro1227Leu)
c.3581C>T (p.Pro1194Leu)
c.3122C>T (p.Pro1041Leu)
c.2261C>T (p.Pro754Leu)
n.4062C>T
n.4066C>T
 dbSNP gnomAD v3 gnomAD v4
1g.1048256C>ACA16760369AGRNc.3996C>A (p.Pro1332=)
c.3681C>A (p.Pro1227=)
c.3582C>A (p.Pro1194=)
c.3123C>A (p.Pro1041=)
c.2262C>A (p.Pro754=)
n.4063C>A
n.4067C>A
 dbSNP gnomAD v2 gnomAD v4
1g.1048256C=CA1148805186AGRNc.3996C= (p.Pro1332=)
c.3681C= (p.Pro1227=)
c.3582C= (p.Pro1194=)
c.3123C= (p.Pro1041=)
c.2262C= (p.Pro754=)
n.4063C=
n.4067C=
1g.1048256C>GCA415758449AGRNc.3996C>G (p.Pro1332=)
c.3681C>G (p.Pro1227=)
c.3582C>G (p.Pro1194=)
c.3123C>G (p.Pro1041=)
c.2262C>G (p.Pro754=)
n.4063C>G
n.4067C>G
1g.1048256C>TCA415758448AGRNc.3996C>T (p.Pro1332=)
c.3681C>T (p.Pro1227=)
c.3582C>T (p.Pro1194=)
c.3123C>T (p.Pro1041=)
c.2262C>T (p.Pro754=)
n.4063C>T
n.4067C>T
 dbSNP gnomAD v2 gnomAD v4
1g.1048257T>ACA337853267AGRNc.3997T>A (p.Cys1333Ser)
c.3682T>A (p.Cys1228Ser)
c.3583T>A (p.Cys1195Ser)
c.3124T>A (p.Cys1042Ser)
c.2263T>A (p.Cys755Ser)
n.4064T>A
n.4068T>A
 gnomAD v4
1g.1048257T>CCA509299AGRNc.3997T>C (p.Cys1333Arg)
c.3682T>C (p.Cys1228Arg)
c.3583T>C (p.Cys1195Arg)
c.3124T>C (p.Cys1042Arg)
c.2263T>C (p.Cys755Arg)
n.4064T>C
n.4068T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1048257T>GCA337853266AGRNc.3997T>G (p.Cys1333Gly)
c.3682T>G (p.Cys1228Gly)
c.3583T>G (p.Cys1195Gly)
c.3124T>G (p.Cys1042Gly)
c.2263T>G (p.Cys755Gly)
n.4064T>G
n.4068T>G
1g.1048257T=CA1148805191AGRNc.3997T= (p.Cys1333=)
c.3682T= (p.Cys1228=)
c.3583T= (p.Cys1195=)
c.3124T= (p.Cys1042=)
c.2263T= (p.Cys755=)
n.4064T=
n.4068T=
1g.1048258G>ACA337853268AGRNc.3998G>A (p.Cys1333Tyr)
c.3683G>A (p.Cys1228Tyr)
c.3584G>A (p.Cys1195Tyr)
c.3125G>A (p.Cys1042Tyr)
c.2264G>A (p.Cys755Tyr)
n.4065G>A
n.4069G>A
 gnomAD v4
1g.1048258G>CCA337853269AGRNc.3998G>C (p.Cys1333Ser)
c.3683G>C (p.Cys1228Ser)
c.3584G>C (p.Cys1195Ser)
c.3125G>C (p.Cys1042Ser)
c.2264G>C (p.Cys755Ser)
n.4065G>C
n.4069G>C
1g.1048258G>TCA337853270AGRNc.3998G>T (p.Cys1333Phe)
c.3683G>T (p.Cys1228Phe)
c.3584G>T (p.Cys1195Phe)
c.3125G>T (p.Cys1042Phe)
c.2264G>T (p.Cys755Phe)
n.4065G>T
n.4069G>T
1g.1048259T>ACA337853271AGRNc.3999T>A (p.Cys1333Ter)
c.3684T>A (p.Cys1228Ter)
c.3585T>A (p.Cys1195Ter)
c.3126T>A (p.Cys1042Ter)
c.2265T>A (p.Cys755Ter)
n.4066T>A
n.4070T>A
 gnomAD v4
1g.1048259T>CCA415758453AGRNc.3999T>C (p.Cys1333=)
c.3684T>C (p.Cys1228=)
c.3585T>C (p.Cys1195=)
c.3126T>C (p.Cys1042=)
c.2265T>C (p.Cys755=)
n.4066T>C
n.4070T>C
 gnomAD v4
1g.1048259T>GCA337853272AGRNc.3999T>G (p.Cys1333Trp)
c.3684T>G (p.Cys1228Trp)
c.3585T>G (p.Cys1195Trp)
c.3126T>G (p.Cys1042Trp)
c.2265T>G (p.Cys755Trp)
n.4066T>G
n.4070T>G
1g.1048260G>ACA337853275AGRNc.4000G>A (p.Asp1334Asn)
c.3685G>A (p.Asp1229Asn)
c.3586G>A (p.Asp1196Asn)
c.3127G>A (p.Asp1043Asn)
c.2266G>A (p.Asp756Asn)
n.4067G>A
n.4071G>A
 gnomAD v4
1g.1048260G>CCA337853274AGRNc.4000G>C (p.Asp1334His)
c.3685G>C (p.Asp1229His)
c.3586G>C (p.Asp1196His)
c.3127G>C (p.Asp1043His)
c.2266G>C (p.Asp756His)
n.4067G>C
n.4071G>C
1g.1048260G>TCA337853273AGRNc.4000G>T (p.Asp1334Tyr)
c.3685G>T (p.Asp1229Tyr)
c.3586G>T (p.Asp1196Tyr)
c.3127G>T (p.Asp1043Tyr)
c.2266G>T (p.Asp756Tyr)
n.4067G>T
n.4071G>T
 gnomAD v4
1g.1048260_1048274dupCA2642492230AGRNc.4000_4014dup (p.Cys1338_Phe1339insAspSerGlnProCys)
c.3685_3699dup (p.Cys1233_Phe1234insAspSerGlnProCys)
c.3586_3600dup (p.Cys1200_Phe1201insAspSerGlnProCys)
c.3127_3141dup (p.Cys1047_Phe1048insAspSerGlnProCys)
c.2266_2280dup (p.Cys760_Phe761insAspSerGlnProCys)
n.4067_4081dup
n.4071_4085dup
 gnomAD v4
1g.1048261A>CCA337853276AGRNc.4001A>C (p.Asp1334Ala)
c.3686A>C (p.Asp1229Ala)
c.3587A>C (p.Asp1196Ala)
c.3128A>C (p.Asp1043Ala)
c.2267A>C (p.Asp756Ala)
n.4068A>C
n.4072A>C
1g.1048261A>GCA337853277AGRNc.4001A>G (p.Asp1334Gly)
c.3686A>G (p.Asp1229Gly)
c.3587A>G (p.Asp1196Gly)
c.3128A>G (p.Asp1043Gly)
c.2267A>G (p.Asp756Gly)
n.4068A>G
n.4072A>G
1g.1048261A>TCA337853278AGRNc.4001A>T (p.Asp1334Val)
c.3686A>T (p.Asp1229Val)
c.3587A>T (p.Asp1196Val)
c.3128A>T (p.Asp1043Val)
c.2267A>T (p.Asp756Val)
n.4068A>T
n.4072A>T
1g.1048262C>ACA337853279AGRNc.4002C>A (p.Asp1334Glu)
c.3687C>A (p.Asp1229Glu)
c.3588C>A (p.Asp1196Glu)
c.3129C>A (p.Asp1043Glu)
c.2268C>A (p.Asp756Glu)
n.4069C>A
n.4073C>A
 gnomAD v4
1g.1048262C=CA1148805205AGRNc.4002C= (p.Asp1334=)
c.3687C= (p.Asp1229=)
c.3588C= (p.Asp1196=)
c.3129C= (p.Asp1043=)
c.2268C= (p.Asp756=)
n.4069C=
n.4073C=
1g.1048262C>GCA337853280AGRNc.4002C>G (p.Asp1334Glu)
c.3687C>G (p.Asp1229Glu)
c.3588C>G (p.Asp1196Glu)
c.3129C>G (p.Asp1043Glu)
c.2268C>G (p.Asp756Glu)
n.4069C>G
n.4073C>G
 dbSNP gnomAD v4
1g.1048262C>TCA509300AGRNc.4002C>T (p.Asp1334=)
c.3687C>T (p.Asp1229=)
c.3588C>T (p.Asp1196=)
c.3129C>T (p.Asp1043=)
c.2268C>T (p.Asp756=)
n.4069C>T
n.4073C>T
 dbSNP ExAC gnomAD v4
1g.1048263T>ACA337853283AGRNc.4003T>A (p.Ser1335Thr)
c.3688T>A (p.Ser1230Thr)
c.3589T>A (p.Ser1197Thr)
c.3130T>A (p.Ser1044Thr)
c.2269T>A (p.Ser757Thr)
n.4070T>A
n.4074T>A
 gnomAD v4
1g.1048263T>CCA337853282AGRNc.4003T>C (p.Ser1335Pro)
c.3688T>C (p.Ser1230Pro)
c.3589T>C (p.Ser1197Pro)
c.3130T>C (p.Ser1044Pro)
c.2269T>C (p.Ser757Pro)
n.4070T>C
n.4074T>C
 gnomAD v4
1g.1048263T>GCA337853281AGRNc.4003T>G (p.Ser1335Ala)
c.3688T>G (p.Ser1230Ala)
c.3589T>G (p.Ser1197Ala)
c.3130T>G (p.Ser1044Ala)
c.2269T>G (p.Ser757Ala)
n.4070T>G
n.4074T>G
1g.1048264C>ACA337853284AGRNc.4004C>A (p.Ser1335Ter)
c.3689C>A (p.Ser1230Ter)
c.3590C>A (p.Ser1197Ter)
c.3131C>A (p.Ser1044Ter)
c.2270C>A (p.Ser757Ter)
n.4071C>A
n.4075C>A
 gnomAD v4
1g.1048264C>GCA337853286AGRNc.4004C>G (p.Ser1335Ter)
c.3689C>G (p.Ser1230Ter)
c.3590C>G (p.Ser1197Ter)
c.3131C>G (p.Ser1044Ter)
c.2270C>G (p.Ser757Ter)
n.4071C>G
n.4075C>G
 gnomAD v4
1g.1048264C>TCA337853285AGRNc.4004C>T (p.Ser1335Leu)
c.3689C>T (p.Ser1230Leu)
c.3590C>T (p.Ser1197Leu)
c.3131C>T (p.Ser1044Leu)
c.2270C>T (p.Ser757Leu)
n.4071C>T
n.4075C>T
 gnomAD v4
1g.1048265A=CA1148805211AGRNc.4005A= (p.Ser1335=)
c.3690A= (p.Ser1230=)
c.3591A= (p.Ser1197=)
c.3132A= (p.Ser1044=)
c.2271A= (p.Ser757=)
n.4072A=
n.4076A=
1g.1048265A>CCA415758455AGRNc.4005A>C (p.Ser1335=)
c.3690A>C (p.Ser1230=)
c.3591A>C (p.Ser1197=)
c.3132A>C (p.Ser1044=)
c.2271A>C (p.Ser757=)
n.4072A>C
n.4076A>C
 dbSNP gnomAD v3 gnomAD v4
1g.1048265A>GCA415758456AGRNc.4005A>G (p.Ser1335=)
c.3690A>G (p.Ser1230=)
c.3591A>G (p.Ser1197=)
c.3132A>G (p.Ser1044=)
c.2271A>G (p.Ser757=)
n.4072A>G
n.4076A>G
 gnomAD v4
1g.1048265A>TCA415758457AGRNc.4005A>T (p.Ser1335=)
c.3690A>T (p.Ser1230=)
c.3591A>T (p.Ser1197=)
c.3132A>T (p.Ser1044=)
c.2271A>T (p.Ser757=)
n.4072A>T
n.4076A>T
 gnomAD v4
1g.1048266C>ACA337853287AGRNc.4006C>A (p.Gln1336Lys)
c.3691C>A (p.Gln1231Lys)
c.3592C>A (p.Gln1198Lys)
c.3133C>A (p.Gln1045Lys)
c.2272C>A (p.Gln758Lys)
n.4073C>A
n.4077C>A
 gnomAD v4
1g.1048266C=CA1148805269AGRNc.4006C= (p.Gln1336=)
c.3691C= (p.Gln1231=)
c.3592C= (p.Gln1198=)
c.3133C= (p.Gln1045=)
c.2272C= (p.Gln758=)
n.4073C=
n.4077C=
1g.1048266C>GCA337853288AGRNc.4006C>G (p.Gln1336Glu)
c.3691C>G (p.Gln1231Glu)
c.3592C>G (p.Gln1198Glu)
c.3133C>G (p.Gln1045Glu)
c.2272C>G (p.Gln758Glu)
n.4073C>G
n.4077C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1048266C>TCA337853289AGRNc.4006C>T (p.Gln1336Ter)
c.3691C>T (p.Gln1231Ter)
c.3592C>T (p.Gln1198Ter)
c.3133C>T (p.Gln1045Ter)
c.2272C>T (p.Gln758Ter)
n.4073C>T
n.4077C>T
 dbSNP gnomAD v3 gnomAD v4
1g.1048267A=CA1148805275AGRNc.4007A= (p.Gln1336=)
c.3692A= (p.Gln1231=)
c.3593A= (p.Gln1198=)
c.3134A= (p.Gln1045=)
c.2273A= (p.Gln758=)
n.4074A=
n.4078A=
1g.1048267A>CCA337853290AGRNc.4007A>C (p.Gln1336Pro)
c.3692A>C (p.Gln1231Pro)
c.3593A>C (p.Gln1198Pro)
c.3134A>C (p.Gln1045Pro)
c.2273A>C (p.Gln758Pro)
n.4074A>C
n.4078A>C
1g.1048267A>GCA337853291AGRNc.4007A>G (p.Gln1336Arg)
c.3692A>G (p.Gln1231Arg)
c.3593A>G (p.Gln1198Arg)
c.3134A>G (p.Gln1045Arg)
c.2273A>G (p.Gln758Arg)
n.4074A>G
n.4078A>G
 dbSNP gnomAD v2 gnomAD v4
1g.1048267A>TCA337853292AGRNc.4007A>T (p.Gln1336Leu)
c.3692A>T (p.Gln1231Leu)
c.3593A>T (p.Gln1198Leu)
c.3134A>T (p.Gln1045Leu)
c.2273A>T (p.Gln758Leu)
n.4074A>T
n.4078A>T
 gnomAD v4
1g.1048268G>ACA415758461AGRNc.4008G>A (p.Gln1336=)
c.3693G>A (p.Gln1231=)
c.3594G>A (p.Gln1198=)
c.3135G>A (p.Gln1045=)
c.2274G>A (p.Gln758=)
n.4075G>A
n.4079G>A
 dbSNP gnomAD v4
1g.1048268G>CCA337853293AGRNc.4008G>C (p.Gln1336His)
c.3693G>C (p.Gln1231His)
c.3594G>C (p.Gln1198His)
c.3135G>C (p.Gln1045His)
c.2274G>C (p.Gln758His)
n.4075G>C
n.4079G>C
 gnomAD v4
1g.1048268G=CA1148805285AGRNc.4008G= (p.Gln1336=)
c.3693G= (p.Gln1231=)
c.3594G= (p.Gln1198=)
c.3135G= (p.Gln1045=)
c.2274G= (p.Gln758=)
n.4075G=
n.4079G=
1g.1048268G>TCA337853294AGRNc.4008G>T (p.Gln1336His)
c.3693G>T (p.Gln1231His)
c.3594G>T (p.Gln1198His)
c.3135G>T (p.Gln1045His)
c.2274G>T (p.Gln758His)
n.4075G>T
n.4079G>T
 gnomAD v4
1g.1048269C>ACA337853295AGRNc.4009C>A (p.Pro1337Thr)
c.3694C>A (p.Pro1232Thr)
c.3595C>A (p.Pro1199Thr)
c.3136C>A (p.Pro1046Thr)
c.2275C>A (p.Pro759Thr)
n.4076C>A
n.4080C>A
 gnomAD v4
1g.1048269C=CA1148805286AGRNc.4009C= (p.Pro1337=)
c.3694C= (p.Pro1232=)
c.3595C= (p.Pro1199=)
c.3136C= (p.Pro1046=)
c.2275C= (p.Pro759=)
n.4076C=
n.4080C=
1g.1048269C>GCA337853296AGRNc.4009C>G (p.Pro1337Ala)
c.3694C>G (p.Pro1232Ala)
c.3595C>G (p.Pro1199Ala)
c.3136C>G (p.Pro1046Ala)
c.2275C>G (p.Pro759Ala)
n.4076C>G
n.4080C>G
 dbSNP gnomAD v3 gnomAD v4
1g.1048269C>TCA337853297AGRNc.4009C>T (p.Pro1337Ser)
c.3694C>T (p.Pro1232Ser)
c.3595C>T (p.Pro1199Ser)
c.3136C>T (p.Pro1046Ser)
c.2275C>T (p.Pro759Ser)
n.4076C>T
n.4080C>T
 gnomAD v4
1g.1048270C>ACA337853300AGRNc.4010C>A (p.Pro1337His)
c.3695C>A (p.Pro1232His)
c.3596C>A (p.Pro1199His)
c.3137C>A (p.Pro1046His)
c.2276C>A (p.Pro759His)
n.4077C>A
n.4081C>A
 gnomAD v4
1g.1048270C=CA1148805289AGRNc.4010C= (p.Pro1337=)
c.3695C= (p.Pro1232=)
c.3596C= (p.Pro1199=)
c.3137C= (p.Pro1046=)
c.2276C= (p.Pro759=)
n.4077C=
n.4081C=
1g.1048270C>GCA337853298AGRNc.4010C>G (p.Pro1337Arg)
c.3695C>G (p.Pro1232Arg)
c.3596C>G (p.Pro1199Arg)
c.3137C>G (p.Pro1046Arg)
c.2276C>G (p.Pro759Arg)
n.4077C>G
n.4081C>G
 gnomAD v4
1g.1048270C>TCA337853299AGRNc.4010C>T (p.Pro1337Leu)
c.3695C>T (p.Pro1232Leu)
c.3596C>T (p.Pro1199Leu)
c.3137C>T (p.Pro1046Leu)
c.2276C>T (p.Pro759Leu)
n.4077C>T
n.4081C>T
 dbSNP gnomAD v2 gnomAD v4
1g.1048271C>ACA415758464AGRNc.4011C>A (p.Pro1337=)
c.3696C>A (p.Pro1232=)
c.3597C>A (p.Pro1199=)
c.3138C>A (p.Pro1046=)
c.2277C>A (p.Pro759=)
n.4078C>A
n.4082C>A
 gnomAD v4
1g.1048271C>GCA415758462AGRNc.4011C>G (p.Pro1337=)
c.3696C>G (p.Pro1232=)
c.3597C>G (p.Pro1199=)
c.3138C>G (p.Pro1046=)
c.2277C>G (p.Pro759=)
n.4078C>G
n.4082C>G
1g.1048271C>TCA415758463AGRNc.4011C>T (p.Pro1337=)
c.3696C>T (p.Pro1232=)
c.3597C>T (p.Pro1199=)
c.3138C>T (p.Pro1046=)
c.2277C>T (p.Pro759=)
n.4078C>T
n.4082C>T
 gnomAD v4
1g.1048272T>ACA337853301AGRNc.4012T>A (p.Cys1338Ser)
c.3697T>A (p.Cys1233Ser)
c.3598T>A (p.Cys1200Ser)
c.3139T>A (p.Cys1047Ser)
c.2278T>A (p.Cys760Ser)
n.4079T>A
n.4083T>A
 gnomAD v4
1g.1048272T>CCA337853302AGRNc.4012T>C (p.Cys1338Arg)
c.3697T>C (p.Cys1233Arg)
c.3598T>C (p.Cys1200Arg)
c.3139T>C (p.Cys1047Arg)
c.2278T>C (p.Cys760Arg)
n.4079T>C
n.4083T>C
 gnomAD v4
1g.1048272T>GCA337853303AGRNc.4012T>G (p.Cys1338Gly)
c.3697T>G (p.Cys1233Gly)
c.3598T>G (p.Cys1200Gly)
c.3139T>G (p.Cys1047Gly)
c.2278T>G (p.Cys760Gly)
n.4079T>G
n.4083T>G
1g.1048273G>ACA337853304AGRNc.4013G>A (p.Cys1338Tyr)
c.3698G>A (p.Cys1233Tyr)
c.3599G>A (p.Cys1200Tyr)
c.3140G>A (p.Cys1047Tyr)
c.2279G>A (p.Cys760Tyr)
n.4080G>A
n.4084G>A
 gnomAD v4
1g.1048273G>CCA337853305AGRNc.4013G>C (p.Cys1338Ser)
c.3698G>C (p.Cys1233Ser)
c.3599G>C (p.Cys1200Ser)
c.3140G>C (p.Cys1047Ser)
c.2279G>C (p.Cys760Ser)
n.4080G>C
n.4084G>C
1g.1048273G>TCA337853306AGRNc.4013G>T (p.Cys1338Phe)
c.3698G>T (p.Cys1233Phe)
c.3599G>T (p.Cys1200Phe)
c.3140G>T (p.Cys1047Phe)
c.2279G>T (p.Cys760Phe)
n.4080G>T
n.4084G>T
 ClinVar gnomAD v4
1g.1048274C>ACA337853307AGRNc.4014C>A (p.Cys1338Ter)
c.3699C>A (p.Cys1233Ter)
c.3600C>A (p.Cys1200Ter)
c.3141C>A (p.Cys1047Ter)
c.2280C>A (p.Cys760Ter)
n.4081C>A
n.4085C>A
 gnomAD v4
1g.1048274C=CA1148805294AGRNc.4014C= (p.Cys1338=)
c.3699C= (p.Cys1233=)
c.3600C= (p.Cys1200=)
c.3141C= (p.Cys1047=)
c.2280C= (p.Cys760=)
n.4081C=
n.4085C=
1g.1048274C>GCA337853308AGRNc.4014C>G (p.Cys1338Trp)
c.3699C>G (p.Cys1233Trp)
c.3600C>G (p.Cys1200Trp)
c.3141C>G (p.Cys1047Trp)
c.2280C>G (p.Cys760Trp)
n.4081C>G
n.4085C>G
1g.1048274C>TCA415758468AGRNc.4014C>T (p.Cys1338=)
c.3699C>T (p.Cys1233=)
c.3600C>T (p.Cys1200=)
c.3141C>T (p.Cys1047=)
c.2280C>T (p.Cys760=)
n.4081C>T
n.4085C>T
 dbSNP gnomAD v2 gnomAD v4
1g.1048275T>ACA337853309AGRNc.4015T>A (p.Phe1339Ile)
c.3700T>A (p.Phe1234Ile)
c.3601T>A (p.Phe1201Ile)
c.3142T>A (p.Phe1048Ile)
c.2281T>A (p.Phe761Ile)
n.4082T>A
n.4086T>A
1g.1048275T>CCA337853310AGRNc.4015T>C (p.Phe1339Leu)
c.3700T>C (p.Phe1234Leu)
c.3601T>C (p.Phe1201Leu)
c.3142T>C (p.Phe1048Leu)
c.2281T>C (p.Phe761Leu)
n.4082T>C
n.4086T>C
 dbSNP gnomAD v2 gnomAD v4
1g.1048275T>GCA337853311AGRNc.4015T>G (p.Phe1339Val)
c.3700T>G (p.Phe1234Val)
c.3601T>G (p.Phe1201Val)
c.3142T>G (p.Phe1048Val)
c.2281T>G (p.Phe761Val)
n.4082T>G
n.4086T>G
1g.1048275T=CA1148805329AGRNc.4015T= (p.Phe1339=)
c.3700T= (p.Phe1234=)
c.3601T= (p.Phe1201=)
c.3142T= (p.Phe1048=)
c.2281T= (p.Phe761=)
n.4082T=
n.4086T=
1g.1048276T>ACA337853313AGRNc.4016T>A (p.Phe1339Tyr)
c.3701T>A (p.Phe1234Tyr)
c.3602T>A (p.Phe1201Tyr)
c.3143T>A (p.Phe1048Tyr)
c.2282T>A (p.Phe761Tyr)
n.4083T>A
n.4087T>A
 gnomAD v4
1g.1048276T>CCA337853314AGRNc.4016T>C (p.Phe1339Ser)
c.3701T>C (p.Phe1234Ser)
c.3602T>C (p.Phe1201Ser)
c.3143T>C (p.Phe1048Ser)
c.2282T>C (p.Phe761Ser)
n.4083T>C
n.4087T>C
 gnomAD v4
1g.1048276T>GCA337853312AGRNc.4016T>G (p.Phe1339Cys)
c.3701T>G (p.Phe1234Cys)
c.3602T>G (p.Phe1201Cys)
c.3143T>G (p.Phe1048Cys)
c.2282T>G (p.Phe761Cys)
n.4083T>G
n.4087T>G
1g.1048277C>ACA337853315AGRNc.4017C>A (p.Phe1339Leu)
c.3702C>A (p.Phe1234Leu)
c.3603C>A (p.Phe1201Leu)
c.3144C>A (p.Phe1048Leu)
c.2283C>A (p.Phe761Leu)
n.4084C>A
n.4088C>A
 gnomAD v4
1g.1048277C=CA1148805352AGRNc.4017C= (p.Phe1339=)
c.3702C= (p.Phe1234=)
c.3603C= (p.Phe1201=)
c.3144C= (p.Phe1048=)
c.2283C= (p.Phe761=)
n.4084C=
n.4088C=
1g.1048277C>GCA337853316AGRNc.4017C>G (p.Phe1339Leu)
c.3702C>G (p.Phe1234Leu)
c.3603C>G (p.Phe1201Leu)
c.3144C>G (p.Phe1048Leu)
c.2283C>G (p.Phe761Leu)
n.4084C>G
n.4088C>G
1g.1048277C>TCA415758469AGRNc.4017C>T (p.Phe1339=)
c.3702C>T (p.Phe1234=)
c.3603C>T (p.Phe1201=)
c.3144C>T (p.Phe1048=)
c.2283C>T (p.Phe761=)
n.4084C>T
n.4088C>T
 dbSNP gnomAD v3 gnomAD v4
1g.1048278C>ACA337853317AGRNc.4018C>A (p.His1340Asn)
c.3703C>A (p.His1235Asn)
c.3604C>A (p.His1202Asn)
c.3145C>A (p.His1049Asn)
c.2284C>A (p.His762Asn)
n.4085C>A
n.4089C>A
 gnomAD v4
1g.1048278C>GCA337853318AGRNc.4018C>G (p.His1340Asp)
c.3703C>G (p.His1235Asp)
c.3604C>G (p.His1202Asp)
c.3145C>G (p.His1049Asp)
c.2284C>G (p.His762Asp)
n.4085C>G
n.4089C>G
1g.1048278C>TCA337853319AGRNc.4018C>T (p.His1340Tyr)
c.3703C>T (p.His1235Tyr)
c.3604C>T (p.His1202Tyr)
c.3145C>T (p.His1049Tyr)
c.2284C>T (p.His762Tyr)
n.4085C>T
n.4089C>T
 gnomAD v4
1g.1048279A>CCA337853320AGRNc.4019A>C (p.His1340Pro)
c.3704A>C (p.His1235Pro)
c.3605A>C (p.His1202Pro)
c.3146A>C (p.His1049Pro)
c.2285A>C (p.His762Pro)
n.4086A>C
n.4090A>C
1g.1048279A>GCA337853321AGRNc.4019A>G (p.His1340Arg)
c.3704A>G (p.His1235Arg)
c.3605A>G (p.His1202Arg)
c.3146A>G (p.His1049Arg)
c.2285A>G (p.His762Arg)
n.4086A>G
n.4090A>G
 gnomAD v4
1g.1048279A>TCA337853322AGRNc.4019A>T (p.His1340Leu)
c.3704A>T (p.His1235Leu)
c.3605A>T (p.His1202Leu)
c.3146A>T (p.His1049Leu)
c.2285A>T (p.His762Leu)
n.4086A>T
n.4090A>T
 gnomAD v4
1g.1048280C>ACA337853323AGRNc.4020C>A (p.His1340Gln)
c.3705C>A (p.His1235Gln)
c.3606C>A (p.His1202Gln)
c.3147C>A (p.His1049Gln)
c.2286C>A (p.His762Gln)
n.4087C>A
n.4091C>A
 gnomAD v4
1g.1048280C=CA1148805358AGRNc.4020C= (p.His1340=)
c.3705C= (p.His1235=)
c.3606C= (p.His1202=)
c.3147C= (p.His1049=)
c.2286C= (p.His762=)
n.4087C=
n.4091C=
1g.1048280C>GCA337853324AGRNc.4020C>G (p.His1340Gln)
c.3705C>G (p.His1235Gln)
c.3606C>G (p.His1202Gln)
c.3147C>G (p.His1049Gln)
c.2286C>G (p.His762Gln)
n.4087C>G
n.4091C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1048280C>TCA415758470AGRNc.4020C>T (p.His1340=)
c.3705C>T (p.His1235=)
c.3606C>T (p.His1202=)
c.3147C>T (p.His1049=)
c.2286C>T (p.His762=)
n.4087C>T
n.4091C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1048281G>ACA509301AGRNc.4021G>A (p.Gly1341Arg)
c.3706G>A (p.Gly1236Arg)
c.3607G>A (p.Gly1203Arg)
c.3148G>A (p.Gly1050Arg)
c.2287G>A (p.Gly763Arg)
n.4088G>A
n.4092G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048281G>CCA16760382AGRNc.4021G>C (p.Gly1341Arg)
c.3706G>C (p.Gly1236Arg)
c.3607G>C (p.Gly1203Arg)
c.3148G>C (p.Gly1050Arg)
c.2287G>C (p.Gly763Arg)
n.4088G>C
n.4092G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1048281G=CA1143868660AGRNc.4021G= (p.Gly1341=)
c.3706G= (p.Gly1236=)
c.3607G= (p.Gly1203=)
c.3148G= (p.Gly1050=)
c.2287G= (p.Gly763=)
n.4088G=
n.4092G=
1g.1048281G>TCA16760377AGRNc.4021G>T (p.Gly1341Trp)
c.3706G>T (p.Gly1236Trp)
c.3607G>T (p.Gly1203Trp)
c.3148G>T (p.Gly1050Trp)
c.2287G>T (p.Gly763Trp)
n.4088G>T
n.4092G>T
 ClinVar dbSNP gnomAD v4
1g.1048286dupCA520659144AGRNc.4026dup (p.Thr1343AspfsTer25)
c.3711dup (p.Thr1238AspfsTer25)
c.3612dup (p.Thr1205AspfsTer25)
c.3153dup (p.Thr1052AspfsTer25)
c.2292dup (p.Thr765AspfsTer25)
n.4093dup
n.4097dup
 gnomAD v2 gnomAD v3 gnomAD v4
1g.1048286delCA520659143AGRNc.4026del (p.Thr1343ProfsTer?)
c.3711del (p.Thr1238ProfsTer?)
c.3612del (p.Thr1205ProfsTer?)
c.3153del (p.Thr1052ProfsTer?)
c.2292del (p.Thr765ProfsTer?)
n.4093del
n.4097del
 gnomAD v2 gnomAD v4
1g.1048282G>ACA337853327AGRNc.4022G>A (p.Gly1341Glu)
c.3707G>A (p.Gly1236Glu)
c.3608G>A (p.Gly1203Glu)
c.3149G>A (p.Gly1050Glu)
c.2288G>A (p.Gly763Glu)
n.4089G>A
n.4093G>A
 gnomAD v4
1g.1048282G>CCA337853326AGRNc.4022G>C (p.Gly1341Ala)
c.3707G>C (p.Gly1236Ala)
c.3608G>C (p.Gly1203Ala)
c.3149G>C (p.Gly1050Ala)
c.2288G>C (p.Gly763Ala)
n.4089G>C
n.4093G>C
1g.1048282G>TCA337853325AGRNc.4022G>T (p.Gly1341Val)
c.3707G>T (p.Gly1236Val)
c.3608G>T (p.Gly1203Val)
c.3149G>T (p.Gly1050Val)
c.2288G>T (p.Gly763Val)
n.4089G>T
n.4093G>T
 gnomAD v4
1g.1048283G>ACA415758471AGRNc.4023G>A (p.Gly1341=)
c.3708G>A (p.Gly1236=)
c.3609G>A (p.Gly1203=)
c.3150G>A (p.Gly1050=)
c.2289G>A (p.Gly763=)
n.4090G>A
n.4094G>A
 gnomAD v4
1g.1048283G>CCA415758472AGRNc.4023G>C (p.Gly1341=)
c.3708G>C (p.Gly1236=)
c.3609G>C (p.Gly1203=)
c.3150G>C (p.Gly1050=)
c.2289G>C (p.Gly763=)
n.4090G>C
n.4094G>C
1g.1048283G>TCA415758473AGRNc.4023G>T (p.Gly1341=)
c.3708G>T (p.Gly1236=)
c.3609G>T (p.Gly1203=)
c.3150G>T (p.Gly1050=)
c.2289G>T (p.Gly763=)
n.4090G>T
n.4094G>T
 dbSNP gnomAD v4
1g.1048284G>ACA337853328AGRNc.4024G>A (p.Gly1342Arg)
c.3709G>A (p.Gly1237Arg)
c.3610G>A (p.Gly1204Arg)
c.3151G>A (p.Gly1051Arg)
c.2290G>A (p.Gly764Arg)
n.4091G>A
n.4095G>A
 gnomAD v4
1g.1048284G>CCA337853329AGRNc.4024G>C (p.Gly1342Arg)
c.3709G>C (p.Gly1237Arg)
c.3610G>C (p.Gly1204Arg)
c.3151G>C (p.Gly1051Arg)
c.2290G>C (p.Gly764Arg)
n.4091G>C
n.4095G>C
1g.1048284G>TCA337853330AGRNc.4024G>T (p.Gly1342Trp)
c.3709G>T (p.Gly1237Trp)
c.3610G>T (p.Gly1204Trp)
c.3151G>T (p.Gly1051Trp)
c.2290G>T (p.Gly764Trp)
n.4091G>T
n.4095G>T
 gnomAD v4
1g.1048285G>ACA16760384AGRNc.4025G>A (p.Gly1342Glu)
c.3710G>A (p.Gly1237Glu)
c.3611G>A (p.Gly1204Glu)
c.3152G>A (p.Gly1051Glu)
c.2291G>A (p.Gly764Glu)
n.4092G>A
n.4096G>A
 dbSNP gnomAD v2 gnomAD v4
1g.1048285G>CCA337853331AGRNc.4025G>C (p.Gly1342Ala)
c.3710G>C (p.Gly1237Ala)
c.3611G>C (p.Gly1204Ala)
c.3152G>C (p.Gly1051Ala)
c.2291G>C (p.Gly764Ala)
n.4092G>C
n.4096G>C
 dbSNP gnomAD v2 gnomAD v4
1g.1048285G=CA1145249585AGRNc.4025G= (p.Gly1342=)
c.3710G= (p.Gly1237=)
c.3611G= (p.Gly1204=)
c.3152G= (p.Gly1051=)
c.2291G= (p.Gly764=)
n.4092G=
n.4096G=
1g.1048285G>TCA337853332AGRNc.4025G>T (p.Gly1342Val)
c.3710G>T (p.Gly1237Val)
c.3611G>T (p.Gly1204Val)
c.3152G>T (p.Gly1051Val)
c.2291G>T (p.Gly764Val)
n.4092G>T
n.4096G>T
 gnomAD v4
1g.1048286G>ACA509302AGRNc.4026G>A (p.Gly1342=)
c.3711G>A (p.Gly1237=)
c.3612G>A (p.Gly1204=)
c.3153G>A (p.Gly1051=)
c.2292G>A (p.Gly764=)
n.4093G>A
n.4097G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048286G>CCA415758474AGRNc.4026G>C (p.Gly1342=)
c.3711G>C (p.Gly1237=)
c.3612G>C (p.Gly1204=)
c.3153G>C (p.Gly1051=)
c.2292G>C (p.Gly764=)
n.4093G>C
n.4097G>C
 dbSNP gnomAD v4
1g.1048286G=CA1148805384AGRNc.4026G= (p.Gly1342=)
c.3711G= (p.Gly1237=)
c.3612G= (p.Gly1204=)
c.3153G= (p.Gly1051=)
c.2292G= (p.Gly764=)
n.4093G=
n.4097G=
1g.1048286G>TCA415758475AGRNc.4026G>T (p.Gly1342=)
c.3711G>T (p.Gly1237=)
c.3612G>T (p.Gly1204=)
c.3153G>T (p.Gly1051=)
c.2292G>T (p.Gly764=)
n.4093G>T
n.4097G>T
 gnomAD v4
1g.1048287A>CCA337853333AGRNc.4027A>C (p.Thr1343Pro)
c.3712A>C (p.Thr1238Pro)
c.3613A>C (p.Thr1205Pro)
c.3154A>C (p.Thr1052Pro)
c.2293A>C (p.Thr765Pro)
n.4094A>C
n.4098A>C
1g.1048287A>GCA337853334AGRNc.4027A>G (p.Thr1343Ala)
c.3712A>G (p.Thr1238Ala)
c.3613A>G (p.Thr1205Ala)
c.3154A>G (p.Thr1052Ala)
c.2293A>G (p.Thr765Ala)
n.4094A>G
n.4098A>G
 gnomAD v4
1g.1048287A>TCA337853335AGRNc.4027A>T (p.Thr1343Ser)
c.3712A>T (p.Thr1238Ser)
c.3613A>T (p.Thr1205Ser)
c.3154A>T (p.Thr1052Ser)
c.2293A>T (p.Thr765Ser)
n.4094A>T
n.4098A>T
 gnomAD v4
1g.1048288C>ACA337853336AGRNc.4028C>A (p.Thr1343Asn)
c.3713C>A (p.Thr1238Asn)
c.3614C>A (p.Thr1205Asn)
c.3155C>A (p.Thr1052Asn)
c.2294C>A (p.Thr765Asn)
n.4095C>A
n.4099C>A
 dbSNP gnomAD v2 gnomAD v4
1g.1048288C=CA1148805405AGRNc.4028C= (p.Thr1343=)
c.3713C= (p.Thr1238=)
c.3614C= (p.Thr1205=)
c.3155C= (p.Thr1052=)
c.2294C= (p.Thr765=)
n.4095C=
n.4099C=
1g.1048288C>GCA16760387AGRNc.4028C>G (p.Thr1343Ser)
c.3713C>G (p.Thr1238Ser)
c.3614C>G (p.Thr1205Ser)
c.3155C>G (p.Thr1052Ser)
c.2294C>G (p.Thr765Ser)
n.4095C>G
n.4099C>G
 dbSNP gnomAD v4
1g.1048288C>TCA337853337AGRNc.4028C>T (p.Thr1343Ile)
c.3713C>T (p.Thr1238Ile)
c.3614C>T (p.Thr1205Ile)
c.3155C>T (p.Thr1052Ile)
c.2294C>T (p.Thr765Ile)
n.4095C>T
n.4099C>T
 gnomAD v4
1g.1048288_1048289insTCAAATAGCA2642492243AGRNc.4028_4029insTCAAATAG (p.Cys1344GlnfsTer?)
c.3713_3714insTCAAATAG (p.Cys1239GlnfsTer?)
c.3614_3615insTCAAATAG (p.Cys1206GlnfsTer?)
c.3155_3156insTCAAATAG (p.Cys1053GlnfsTer?)
c.2294_2295insTCAAATAG (p.Cys766GlnfsTer?)
n.4095_4096insTCAAATAG
n.4099_4100insTCAAATAG
 gnomAD v4
1g.1048289C>ACA415758476AGRNc.4029C>A (p.Thr1343=)
c.3714C>A (p.Thr1238=)
c.3615C>A (p.Thr1205=)
c.3156C>A (p.Thr1052=)
c.2295C>A (p.Thr765=)
n.4096C>A
n.4100C>A
 gnomAD v4
1g.1048289C>GCA415758477AGRNc.4029C>G (p.Thr1343=)
c.3714C>G (p.Thr1238=)
c.3615C>G (p.Thr1205=)
c.3156C>G (p.Thr1052=)
c.2295C>G (p.Thr765=)
n.4096C>G
n.4100C>G
1g.1048289C>TCA415758478AGRNc.4029C>T (p.Thr1343=)
c.3714C>T (p.Thr1238=)
c.3615C>T (p.Thr1205=)
c.3156C>T (p.Thr1052=)
c.2295C>T (p.Thr765=)
n.4096C>T
n.4100C>T
 gnomAD v4
1g.1048290delCA2642492244AGRNc.4030del (p.Cys1344AlafsTer?)
c.3715del (p.Cys1239AlafsTer?)
c.3616del (p.Cys1206AlafsTer?)
c.3157del (p.Cys1053AlafsTer?)
c.2296del (p.Cys766AlafsTer?)
n.4097del
n.4101del
 gnomAD v4
1g.1048290T>ACA337853340AGRNc.4030T>A (p.Cys1344Ser)
c.3715T>A (p.Cys1239Ser)
c.3616T>A (p.Cys1206Ser)
c.3157T>A (p.Cys1053Ser)
c.2296T>A (p.Cys766Ser)
n.4097T>A
n.4101T>A
 dbSNP gnomAD v2 gnomAD v4
1g.1048290T>CCA337853338AGRNc.4030T>C (p.Cys1344Arg)
c.3715T>C (p.Cys1239Arg)
c.3616T>C (p.Cys1206Arg)
c.3157T>C (p.Cys1053Arg)
c.2296T>C (p.Cys766Arg)
n.4097T>C
n.4101T>C
 gnomAD v4
1g.1048290T>GCA337853339AGRNc.4030T>G (p.Cys1344Gly)
c.3715T>G (p.Cys1239Gly)
c.3616T>G (p.Cys1206Gly)
c.3157T>G (p.Cys1053Gly)
c.2296T>G (p.Cys766Gly)
n.4097T>G
n.4101T>G
1g.1048290T=CA1148805409AGRNc.4030T= (p.Cys1344=)
c.3715T= (p.Cys1239=)
c.3616T= (p.Cys1206=)
c.3157T= (p.Cys1053=)
c.2296T= (p.Cys766=)
n.4097T=
n.4101T=
1g.1048291G>ACA337853341AGRNc.4031G>A (p.Cys1344Tyr)
c.3716G>A (p.Cys1239Tyr)
c.3617G>A (p.Cys1206Tyr)
c.3158G>A (p.Cys1053Tyr)
c.2297G>A (p.Cys766Tyr)
n.4098G>A
n.4102G>A
 gnomAD v4
1g.1048291G>CCA337853342AGRNc.4031G>C (p.Cys1344Ser)
c.3716G>C (p.Cys1239Ser)
c.3617G>C (p.Cys1206Ser)
c.3158G>C (p.Cys1053Ser)
c.2297G>C (p.Cys766Ser)
n.4098G>C
n.4102G>C
1g.1048291G=CA1148805415AGRNc.4031G= (p.Cys1344=)
c.3716G= (p.Cys1239=)
c.3617G= (p.Cys1206=)
c.3158G= (p.Cys1053=)
c.2297G= (p.Cys766=)
n.4098G=
n.4102G=
1g.1048291G>TCA16760388AGRNc.4031G>T (p.Cys1344Phe)
c.3716G>T (p.Cys1239Phe)
c.3617G>T (p.Cys1206Phe)
c.3158G>T (p.Cys1053Phe)
c.2297G>T (p.Cys766Phe)
n.4098G>T
n.4102G>T
 dbSNP gnomAD v4
1g.1048292C>ACA337853344AGRNc.4032C>A (p.Cys1344Ter)
c.3717C>A (p.Cys1239Ter)
c.3618C>A (p.Cys1206Ter)
c.3159C>A (p.Cys1053Ter)
c.2298C>A (p.Cys766Ter)
n.4099C>A
n.4103C>A
 gnomAD v4
1g.1048292C>GCA337853345AGRNc.4032C>G (p.Cys1344Trp)
c.3717C>G (p.Cys1239Trp)
c.3618C>G (p.Cys1206Trp)
c.3159C>G (p.Cys1053Trp)
c.2298C>G (p.Cys766Trp)
n.4099C>G
n.4103C>G
1g.1048292C>TCA415758479AGRNc.4032C>T (p.Cys1344=)
c.3717C>T (p.Cys1239=)
c.3618C>T (p.Cys1206=)
c.3159C>T (p.Cys1053=)
c.2298C>T (p.Cys766=)
n.4099C>T
n.4103C>T
 gnomAD v4
1g.1048293C>ACA337853346AGRNc.4033C>A (p.Gln1345Lys)
c.3718C>A (p.Gln1240Lys)
c.3619C>A (p.Gln1207Lys)
c.3160C>A (p.Gln1054Lys)
c.2299C>A (p.Gln767Lys)
n.4100C>A
n.4104C>A
 gnomAD v4
1g.1048293C=CA1148805444AGRNc.4033C= (p.Gln1345=)
c.3718C= (p.Gln1240=)
c.3619C= (p.Gln1207=)
c.3160C= (p.Gln1054=)
c.2299C= (p.Gln767=)
n.4100C=
n.4104C=
1g.1048293C>GCA337853347AGRNc.4033C>G (p.Gln1345Glu)
c.3718C>G (p.Gln1240Glu)
c.3619C>G (p.Gln1207Glu)
c.3160C>G (p.Gln1054Glu)
c.2299C>G (p.Gln767Glu)
n.4100C>G
n.4104C>G
1g.1048293C>TCA337853349AGRNc.4033C>T (p.Gln1345Ter)
c.3718C>T (p.Gln1240Ter)
c.3619C>T (p.Gln1207Ter)
c.3160C>T (p.Gln1054Ter)
c.2299C>T (p.Gln767Ter)
n.4100C>T
n.4104C>T
 dbSNP gnomAD v2 gnomAD v4
1g.1048294A=CA1148805456AGRNc.4034A= (p.Gln1345=)
c.3719A= (p.Gln1240=)
c.3620A= (p.Gln1207=)
c.3161A= (p.Gln1054=)
c.2300A= (p.Gln767=)
n.4101A=
n.4105A=
1g.1048294A>CCA337853352AGRNc.4034A>C (p.Gln1345Pro)
c.3719A>C (p.Gln1240Pro)
c.3620A>C (p.Gln1207Pro)
c.3161A>C (p.Gln1054Pro)
c.2300A>C (p.Gln767Pro)
n.4101A>C
n.4105A>C
 gnomAD v4
1g.1048294A>GCA337853354AGRNc.4034A>G (p.Gln1345Arg)
c.3719A>G (p.Gln1240Arg)
c.3620A>G (p.Gln1207Arg)
c.3161A>G (p.Gln1054Arg)
c.2300A>G (p.Gln767Arg)
n.4101A>G
n.4105A>G
 dbSNP gnomAD v4
1g.1048294A>TCA337853356AGRNc.4034A>T (p.Gln1345Leu)
c.3719A>T (p.Gln1240Leu)
c.3620A>T (p.Gln1207Leu)
c.3161A>T (p.Gln1054Leu)
c.2300A>T (p.Gln767Leu)
n.4101A>T
n.4105A>T
1g.1048295G>ACA415758480AGRNc.4035G>A (p.Gln1345=)
c.3720G>A (p.Gln1240=)
c.3621G>A (p.Gln1207=)
c.3162G>A (p.Gln1054=)
c.2301G>A (p.Gln767=)
n.4102G>A
n.4106G>A
 gnomAD v4
1g.1048295G>CCA16760391AGRNc.4035G>C (p.Gln1345His)
c.3720G>C (p.Gln1240His)
c.3621G>C (p.Gln1207His)
c.3162G>C (p.Gln1054His)
c.2301G>C (p.Gln767His)
n.4102G>C
n.4106G>C
 dbSNP gnomAD v2 gnomAD v4
1g.1048295G=CA1148805466AGRNc.4035G= (p.Gln1345=)
c.3720G= (p.Gln1240=)
c.3621G= (p.Gln1207=)
c.3162G= (p.Gln1054=)
c.2301G= (p.Gln767=)
n.4102G=
n.4106G=
1g.1048295G>TCA337853358AGRNc.4035G>T (p.Gln1345His)
c.3720G>T (p.Gln1240His)
c.3621G>T (p.Gln1207His)
c.3162G>T (p.Gln1054His)
c.2301G>T (p.Gln767His)
n.4102G>T
n.4106G>T
 gnomAD v4
1g.1048296G>ACA337853359AGRNc.4036G>A (p.Asp1346Asn)
c.3721G>A (p.Asp1241Asn)
c.3622G>A (p.Asp1208Asn)
c.3163G>A (p.Asp1055Asn)
c.2302G>A (p.Asp768Asn)
n.4103G>A
n.4107G>A
 gnomAD v4
1g.1048296G>CCA337853360AGRNc.4036G>C (p.Asp1346His)
c.3721G>C (p.Asp1241His)
c.3622G>C (p.Asp1208His)
c.3163G>C (p.Asp1055His)
c.2302G>C (p.Asp768His)
n.4103G>C
n.4107G>C
 gnomAD v4
1g.1048296G>TCA337853361AGRNc.4036G>T (p.Asp1346Tyr)
c.3721G>T (p.Asp1241Tyr)
c.3622G>T (p.Asp1208Tyr)
c.3163G>T (p.Asp1055Tyr)
c.2302G>T (p.Asp768Tyr)
n.4103G>T
n.4107G>T
 gnomAD v4
1g.1048297A>CCA337853366AGRNc.4037A>C (p.Asp1346Ala)
c.3722A>C (p.Asp1241Ala)
c.3623A>C (p.Asp1208Ala)
c.3164A>C (p.Asp1055Ala)
c.2303A>C (p.Asp768Ala)
n.4104A>C
n.4108A>C
1g.1048297A>GCA337853363AGRNc.4037A>G (p.Asp1346Gly)
c.3722A>G (p.Asp1241Gly)
c.3623A>G (p.Asp1208Gly)
c.3164A>G (p.Asp1055Gly)
c.2303A>G (p.Asp768Gly)
n.4104A>G
n.4108A>G
 gnomAD v4
1g.1048297A>TCA337853364AGRNc.4037A>T (p.Asp1346Val)
c.3722A>T (p.Asp1241Val)
c.3623A>T (p.Asp1208Val)
c.3164A>T (p.Asp1055Val)
c.2303A>T (p.Asp768Val)
n.4104A>T
n.4108A>T
 gnomAD v4
1g.1048298C>ACA337853367AGRNc.4038C>A (p.Asp1346Glu)
c.3723C>A (p.Asp1241Glu)
c.3624C>A (p.Asp1208Glu)
c.3165C>A (p.Asp1055Glu)
c.2304C>A (p.Asp768Glu)
n.4105C>A
n.4109C>A
 gnomAD v4
1g.1048298C>GCA337853369AGRNc.4038C>G (p.Asp1346Glu)
c.3723C>G (p.Asp1241Glu)
c.3624C>G (p.Asp1208Glu)
c.3165C>G (p.Asp1055Glu)
c.2304C>G (p.Asp768Glu)
n.4105C>G
n.4109C>G
 gnomAD v4
1g.1048298C>TCA415758481AGRNc.4038C>T (p.Asp1346=)
c.3723C>T (p.Asp1241=)
c.3624C>T (p.Asp1208=)
c.3165C>T (p.Asp1055=)
c.2304C>T (p.Asp768=)
n.4105C>T
n.4109C>T
 gnomAD v4
1g.1048299T>ACA337853370AGRNc.4039T>A (p.Trp1347Arg)
c.3724T>A (p.Trp1242Arg)
c.3625T>A (p.Trp1209Arg)
c.3166T>A (p.Trp1056Arg)
c.2305T>A (p.Trp769Arg)
n.4106T>A
n.4110T>A
1g.1048299T>CCA337853371AGRNc.4039T>C (p.Trp1347Arg)
c.3724T>C (p.Trp1242Arg)
c.3625T>C (p.Trp1209Arg)
c.3166T>C (p.Trp1056Arg)
c.2305T>C (p.Trp769Arg)
n.4106T>C
n.4110T>C
 dbSNP gnomAD v4
1g.1048299T>GCA337853373AGRNc.4039T>G (p.Trp1347Gly)
c.3724T>G (p.Trp1242Gly)
c.3625T>G (p.Trp1209Gly)
c.3166T>G (p.Trp1056Gly)
c.2305T>G (p.Trp769Gly)
n.4106T>G
n.4110T>G
1g.1048299T=CA1148805473AGRNc.4039T= (p.Trp1347=)
c.3724T= (p.Trp1242=)
c.3625T= (p.Trp1209=)
c.3166T= (p.Trp1056=)
c.2305T= (p.Trp769=)
n.4106T=
n.4110T=
1g.1048300G>ACA337853374AGRNc.4040G>A (p.Trp1347Ter)
c.3725G>A (p.Trp1242Ter)
c.3626G>A (p.Trp1209Ter)
c.3167G>A (p.Trp1056Ter)
c.2306G>A (p.Trp769Ter)
n.4107G>A
n.4111G>A
 gnomAD v4
1g.1048300G>CCA337853376AGRNc.4040G>C (p.Trp1347Ser)
c.3725G>C (p.Trp1242Ser)
c.3626G>C (p.Trp1209Ser)
c.3167G>C (p.Trp1056Ser)
c.2306G>C (p.Trp769Ser)
n.4107G>C
n.4111G>C
 dbSNP gnomAD v4
1g.1048300G=CA1148805481AGRNc.4040G= (p.Trp1347=)
c.3725G= (p.Trp1242=)
c.3626G= (p.Trp1209=)
c.3167G= (p.Trp1056=)
c.2306G= (p.Trp769=)
n.4107G=
n.4111G=
1g.1048300G>TCA16760395AGRNc.4040G>T (p.Trp1347Leu)
c.3725G>T (p.Trp1242Leu)
c.3626G>T (p.Trp1209Leu)
c.3167G>T (p.Trp1056Leu)
c.2306G>T (p.Trp769Leu)
n.4107G>T
n.4111G>T
 dbSNP gnomAD v4
1g.1048302delCA2642492245AGRNc.4042del (p.Ala1348HisfsTer?)
c.3727del (p.Ala1243HisfsTer?)
c.3628del (p.Ala1210HisfsTer?)
c.3169del (p.Ala1057HisfsTer?)
c.2308del (p.Ala770HisfsTer?)
n.4109del
n.4113del
 gnomAD v4
1g.1048301G>ACA337853378AGRNc.4041G>A (p.Trp1347Ter)
c.3726G>A (p.Trp1242Ter)
c.3627G>A (p.Trp1209Ter)
c.3168G>A (p.Trp1056Ter)
c.2307G>A (p.Trp769Ter)
n.4108G>A
n.4112G>A
 gnomAD v4
1g.1048301G>CCA337853379AGRNc.4041G>C (p.Trp1347Cys)
c.3726G>C (p.Trp1242Cys)
c.3627G>C (p.Trp1209Cys)
c.3168G>C (p.Trp1056Cys)
c.2307G>C (p.Trp769Cys)
n.4108G>C
n.4112G>C
 dbSNP gnomAD v4
1g.1048301G=CA1148805583AGRNc.4041G= (p.Trp1347=)
c.3726G= (p.Trp1242=)
c.3627G= (p.Trp1209=)
c.3168G= (p.Trp1056=)
c.2307G= (p.Trp769=)
n.4108G=
n.4112G=
1g.1048301G>TCA337853381AGRNc.4041G>T (p.Trp1347Cys)
c.3726G>T (p.Trp1242Cys)
c.3627G>T (p.Trp1209Cys)
c.3168G>T (p.Trp1056Cys)
c.2307G>T (p.Trp769Cys)
n.4108G>T
n.4112G>T
 gnomAD v4
1g.1048302G>ACA16760397AGRNc.4042G>A (p.Ala1348Thr)
c.3727G>A (p.Ala1243Thr)
c.3628G>A (p.Ala1210Thr)
c.3169G>A (p.Ala1057Thr)
c.2308G>A (p.Ala770Thr)
n.4109G>A
n.4113G>A
 dbSNP gnomAD v4
1g.1048302G>CCA337853383AGRNc.4042G>C (p.Ala1348Pro)
c.3727G>C (p.Ala1243Pro)
c.3628G>C (p.Ala1210Pro)
c.3169G>C (p.Ala1057Pro)
c.2308G>C (p.Ala770Pro)
n.4109G>C
n.4113G>C
 gnomAD v4
1g.1048302G=CA1148805590AGRNc.4042G= (p.Ala1348=)
c.3727G= (p.Ala1243=)
c.3628G= (p.Ala1210=)
c.3169G= (p.Ala1057=)
c.2308G= (p.Ala770=)
n.4109G=
n.4113G=
1g.1048302G>TCA337853382AGRNc.4042G>T (p.Ala1348Ser)
c.3727G>T (p.Ala1243Ser)
c.3628G>T (p.Ala1210Ser)
c.3169G>T (p.Ala1057Ser)
c.2308G>T (p.Ala770Ser)
n.4109G>T
n.4113G>T
 gnomAD v4
1g.1048303C>ACA16760399AGRNc.4043C>A (p.Ala1348Glu)
c.3728C>A (p.Ala1243Glu)
c.3629C>A (p.Ala1210Glu)
c.3170C>A (p.Ala1057Glu)
c.2309C>A (p.Ala770Glu)
n.4110C>A
n.4114C>A
 dbSNP gnomAD v4
1g.1048303C=CA1148805599AGRNc.4043C= (p.Ala1348=)
c.3728C= (p.Ala1243=)
c.3629C= (p.Ala1210=)
c.3170C= (p.Ala1057=)
c.2309C= (p.Ala770=)
n.4110C=
n.4114C=
1g.1048303C>GCA337853384AGRNc.4043C>G (p.Ala1348Gly)
c.3728C>G (p.Ala1243Gly)
c.3629C>G (p.Ala1210Gly)
c.3170C>G (p.Ala1057Gly)
c.2309C>G (p.Ala770Gly)
n.4110C>G
n.4114C>G
1g.1048303C>TCA337853385AGRNc.4043C>T (p.Ala1348Val)
c.3728C>T (p.Ala1243Val)
c.3629C>T (p.Ala1210Val)
c.3170C>T (p.Ala1057Val)
c.2309C>T (p.Ala770Val)
n.4110C>T
n.4114C>T
 gnomAD v4
1g.1048304A>CCA415758482AGRNc.4044A>C (p.Ala1348=)
c.3729A>C (p.Ala1243=)
c.3630A>C (p.Ala1210=)
c.3171A>C (p.Ala1057=)
c.2310A>C (p.Ala770=)
n.4111A>C
n.4115A>C
1g.1048304A>GCA415758483AGRNc.4044A>G (p.Ala1348=)
c.3729A>G (p.Ala1243=)
c.3630A>G (p.Ala1210=)
c.3171A>G (p.Ala1057=)
c.2310A>G (p.Ala770=)
n.4111A>G
n.4115A>G
 ClinVar
1g.1048304A>TCA415758484AGRNc.4044A>T (p.Ala1348=)
c.3729A>T (p.Ala1243=)
c.3630A>T (p.Ala1210=)
c.3171A>T (p.Ala1057=)
c.2310A>T (p.Ala770=)
n.4111A>T
n.4115A>T
1g.1048305T>ACA337853387AGRNc.4045T>A (p.Leu1349Met)
c.3730T>A (p.Leu1244Met)
c.3631T>A (p.Leu1211Met)
c.3172T>A (p.Leu1058Met)
c.2311T>A (p.Leu771Met)
n.4112T>A
n.4116T>A
1g.1048305T>CCA415758485AGRNc.4045T>C (p.Leu1349=)
c.3730T>C (p.Leu1244=)
c.3631T>C (p.Leu1211=)
c.3172T>C (p.Leu1058=)
c.2311T>C (p.Leu771=)
n.4112T>C
n.4116T>C
1g.1048305T>GCA337853389AGRNc.4045T>G (p.Leu1349Val)
c.3730T>G (p.Leu1244Val)
c.3631T>G (p.Leu1211Val)
c.3172T>G (p.Leu1058Val)
c.2311T>G (p.Leu771Val)
n.4112T>G
n.4116T>G
1g.1048306T>ACA337853391AGRNc.4046T>A (p.Leu1349Ter)
c.3731T>A (p.Leu1244Ter)
c.3632T>A (p.Leu1211Ter)
c.3173T>A (p.Leu1058Ter)
c.2312T>A (p.Leu771Ter)
n.4113T>A
n.4117T>A
1g.1048306T>CCA337853392AGRNc.4046T>C (p.Leu1349Ser)
c.3731T>C (p.Leu1244Ser)
c.3632T>C (p.Leu1211Ser)
c.3173T>C (p.Leu1058Ser)
c.2312T>C (p.Leu771Ser)
n.4113T>C
n.4117T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1048306T>GCA337853393AGRNc.4046T>G (p.Leu1349Trp)
c.3731T>G (p.Leu1244Trp)
c.3632T>G (p.Leu1211Trp)
c.3173T>G (p.Leu1058Trp)
c.2312T>G (p.Leu771Trp)
n.4113T>G
n.4117T>G
 gnomAD v4
1g.1048306T=CA1148805646AGRNc.4046T= (p.Leu1349=)
c.3731T= (p.Leu1244=)
c.3632T= (p.Leu1211=)
c.3173T= (p.Leu1058=)
c.2312T= (p.Leu771=)
n.4113T=
n.4117T=
1g.1048307G>ACA415758486AGRNc.4047G>A (p.Leu1349=)
c.3732G>A (p.Leu1244=)
c.3633G>A (p.Leu1211=)
c.3174G>A (p.Leu1058=)
c.2313G>A (p.Leu771=)
n.4114G>A
n.4118G>A
 dbSNP gnomAD v2 gnomAD v4
1g.1048307G>CCA337853394AGRNc.4047G>C (p.Leu1349Phe)
c.3732G>C (p.Leu1244Phe)
c.3633G>C (p.Leu1211Phe)
c.3174G>C (p.Leu1058Phe)
c.2313G>C (p.Leu771Phe)
n.4114G>C
n.4118G>C
1g.1048307G=CA1148805655AGRNc.4047G= (p.Leu1349=)
c.3732G= (p.Leu1244=)
c.3633G= (p.Leu1211=)
c.3174G= (p.Leu1058=)
c.2313G= (p.Leu771=)
n.4114G=
n.4118G=
1g.1048307G>TCA337853395AGRNc.4047G>T (p.Leu1349Phe)
c.3732G>T (p.Leu1244Phe)
c.3633G>T (p.Leu1211Phe)
c.3174G>T (p.Leu1058Phe)
c.2313G>T (p.Leu771Phe)
n.4114G>T
n.4118G>T
 gnomAD v4
1g.1048308G>ACA337853396AGRNc.4048G>A (p.Gly1350Ser)
c.3733G>A (p.Gly1245Ser)
c.3634G>A (p.Gly1212Ser)
c.3175G>A (p.Gly1059Ser)
c.2314G>A (p.Gly772Ser)
n.4115G>A
n.4119G>A
 gnomAD v4
1g.1048308G>CCA337853397AGRNc.4048G>C (p.Gly1350Arg)
c.3733G>C (p.Gly1245Arg)
c.3634G>C (p.Gly1212Arg)
c.3175G>C (p.Gly1059Arg)
c.2314G>C (p.Gly772Arg)
n.4115G>C
n.4119G>C
 gnomAD v4
1g.1048308G>TCA337853398AGRNc.4048G>T (p.Gly1350Cys)
c.3733G>T (p.Gly1245Cys)
c.3634G>T (p.Gly1212Cys)
c.3175G>T (p.Gly1059Cys)
c.2314G>T (p.Gly772Cys)
n.4115G>T
n.4119G>T
 gnomAD v4
1g.1048309G>ACA337853402AGRNc.4049G>A (p.Gly1350Asp)
c.3734G>A (p.Gly1245Asp)
c.3635G>A (p.Gly1212Asp)
c.3176G>A (p.Gly1059Asp)
c.2315G>A (p.Gly772Asp)
n.4116G>A
n.4120G>A
 dbSNP gnomAD v2 gnomAD v4
1g.1048309G>CCA337853401AGRNc.4049G>C (p.Gly1350Ala)
c.3734G>C (p.Gly1245Ala)
c.3635G>C (p.Gly1212Ala)
c.3176G>C (p.Gly1059Ala)
c.2315G>C (p.Gly772Ala)
n.4116G>C
n.4120G>C
1g.1048309G=CA1148805702AGRNc.4049G= (p.Gly1350=)
c.3734G= (p.Gly1245=)
c.3635G= (p.Gly1212=)
c.3176G= (p.Gly1059=)
c.2315G= (p.Gly772=)
n.4116G=
n.4120G=
1g.1048309G>TCA337853399AGRNc.4049G>T (p.Gly1350Val)
c.3734G>T (p.Gly1245Val)
c.3635G>T (p.Gly1212Val)
c.3176G>T (p.Gly1059Val)
c.2315G>T (p.Gly772Val)
n.4116G>T
n.4120G>T
 gnomAD v4
1g.1048310C>ACA415758487AGRNc.4050C>A (p.Gly1350=)
c.3735C>A (p.Gly1245=)
c.3636C>A (p.Gly1212=)
c.3177C>A (p.Gly1059=)
c.2316C>A (p.Gly772=)
n.4117C>A
n.4121C>A
 gnomAD v4
1g.1048310C=CA1148805726AGRNc.4050C= (p.Gly1350=)
c.3735C= (p.Gly1245=)
c.3636C= (p.Gly1212=)
c.3177C= (p.Gly1059=)
c.2316C= (p.Gly772=)
n.4117C=
n.4121C=
1g.1048310C>GCA16760400AGRNc.4050C>G (p.Gly1350=)
c.3735C>G (p.Gly1245=)
c.3636C>G (p.Gly1212=)
c.3177C>G (p.Gly1059=)
c.2316C>G (p.Gly772=)
n.4117C>G
n.4121C>G
 dbSNP
1g.1048310C>TCA509303AGRNc.4050C>T (p.Gly1350=)
c.3735C>T (p.Gly1245=)
c.3636C>T (p.Gly1212=)
c.3177C>T (p.Gly1059=)
c.2316C>T (p.Gly772=)
n.4117C>T
n.4121C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048310_1048311delinsCGCA1148805720AGRNc.4050_4051delinsCG (p.Gly1350=)
c.3735_3736delinsCG (p.Gly1245=)
c.3636_3637delinsCG (p.Gly1212=)
c.3177_3178delinsCG (p.Gly1059=)
c.2316_2317delinsCG (p.Gly772=)
n.4117_4118delinsCG
n.4121_4122delinsCG
1g.1048311G>ACA16760401AGRNc.4051G>A (p.Gly1351Arg)
c.3736G>A (p.Gly1246Arg)
c.3637G>A (p.Gly1213Arg)
c.3178G>A (p.Gly1060Arg)
c.2317G>A (p.Gly773Arg)
n.4118G>A
n.4122G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1048311G>CCA337853404AGRNc.4051G>C (p.Gly1351Arg)
c.3736G>C (p.Gly1246Arg)
c.3637G>C (p.Gly1213Arg)
c.3178G>C (p.Gly1060Arg)
c.2317G>C (p.Gly773Arg)
n.4118G>C
n.4122G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1048311G=CA1148805731AGRNc.4051G= (p.Gly1351=)
c.3736G= (p.Gly1246=)
c.3637G= (p.Gly1213=)
c.3178G= (p.Gly1060=)
c.2317G= (p.Gly773=)
n.4118G=
n.4122G=
1g.1048311G>TCA337853405AGRNc.4051G>T (p.Gly1351Trp)
c.3736G>T (p.Gly1246Trp)
c.3637G>T (p.Gly1213Trp)
c.3178G>T (p.Gly1060Trp)
c.2317G>T (p.Gly773Trp)
n.4118G>T
n.4122G>T
 gnomAD v4
1g.1048315delCA520659145AGRNc.4055del (p.Gly1352AlafsTer?)
c.3740del (p.Gly1247AlafsTer?)
c.3641del (p.Gly1214AlafsTer?)
c.3182del (p.Gly1061AlafsTer?)
c.2321del (p.Gly774AlafsTer?)
n.4122del
n.4126del
 dbSNP gnomAD v2 gnomAD v4
1g.1048312G>ACA337853407AGRNc.4052G>A (p.Gly1351Glu)
c.3737G>A (p.Gly1246Glu)
c.3638G>A (p.Gly1213Glu)
c.3179G>A (p.Gly1060Glu)
c.2318G>A (p.Gly773Glu)
n.4119G>A
n.4123G>A
 gnomAD v4
1g.1048312G>CCA337853409AGRNc.4052G>C (p.Gly1351Ala)
c.3737G>C (p.Gly1246Ala)
c.3638G>C (p.Gly1213Ala)
c.3179G>C (p.Gly1060Ala)
c.2318G>C (p.Gly773Ala)
n.4119G>C
n.4123G>C
 dbSNP gnomAD v4
1g.1048312G=CA1148805739AGRNc.4052G= (p.Gly1351=)
c.3737G= (p.Gly1246=)
c.3638G= (p.Gly1213=)
c.3179G= (p.Gly1060=)
c.2318G= (p.Gly773=)
n.4119G=
n.4123G=
1g.1048312G>TCA16760405AGRNc.4052G>T (p.Gly1351Val)
c.3737G>T (p.Gly1246Val)
c.3638G>T (p.Gly1213Val)
c.3179G>T (p.Gly1060Val)
c.2318G>T (p.Gly773Val)
n.4119G>T
n.4123G>T
 dbSNP gnomAD v4
1g.1048313G>ACA415758488AGRNc.4053G>A (p.Gly1351=)
c.3738G>A (p.Gly1246=)
c.3639G>A (p.Gly1213=)
c.3180G>A (p.Gly1060=)
c.2319G>A (p.Gly773=)
n.4120G>A
n.4124G>A
 dbSNP gnomAD v2 gnomAD v4
1g.1048313G>CCA415758489AGRNc.4053G>C (p.Gly1351=)
c.3738G>C (p.Gly1246=)
c.3639G>C (p.Gly1213=)
c.3180G>C (p.Gly1060=)
c.2319G>C (p.Gly773=)
n.4120G>C
n.4124G>C
1g.1048313G=CA1148805741AGRNc.4053G= (p.Gly1351=)
c.3738G= (p.Gly1246=)
c.3639G= (p.Gly1213=)
c.3180G= (p.Gly1060=)
c.2319G= (p.Gly773=)
n.4120G=
n.4124G=
1g.1048313G>TCA415758490AGRNc.4053G>T (p.Gly1351=)
c.3738G>T (p.Gly1246=)
c.3639G>T (p.Gly1213=)
c.3180G>T (p.Gly1060=)
c.2319G>T (p.Gly773=)
n.4120G>T
n.4124G>T
 gnomAD v4
1g.1048314G>ACA337853410AGRNc.4054G>A (p.Gly1352Ser)
c.3739G>A (p.Gly1247Ser)
c.3640G>A (p.Gly1214Ser)
c.3181G>A (p.Gly1061Ser)
c.2320G>A (p.Gly774Ser)
n.4121G>A
n.4125G>A
 gnomAD v4
1g.1048314G>CCA337853411AGRNc.4054G>C (p.Gly1352Arg)
c.3739G>C (p.Gly1247Arg)
c.3640G>C (p.Gly1214Arg)
c.3181G>C (p.Gly1061Arg)
c.2320G>C (p.Gly774Arg)
n.4121G>C
n.4125G>C
1g.1048314G>TCA337853412AGRNc.4054G>T (p.Gly1352Cys)
c.3739G>T (p.Gly1247Cys)
c.3640G>T (p.Gly1214Cys)
c.3181G>T (p.Gly1061Cys)
c.2320G>T (p.Gly774Cys)
n.4121G>T
n.4125G>T
 gnomAD v4
1g.1048315G>ACA509304AGRNc.4055G>A (p.Gly1352Asp)
c.3740G>A (p.Gly1247Asp)
c.3641G>A (p.Gly1214Asp)
c.3182G>A (p.Gly1061Asp)
c.2321G>A (p.Gly774Asp)
n.4122G>A
n.4126G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048315G>CCA337853413AGRNc.4055G>C (p.Gly1352Ala)
c.3740G>C (p.Gly1247Ala)
c.3641G>C (p.Gly1214Ala)
c.3182G>C (p.Gly1061Ala)
c.2321G>C (p.Gly774Ala)
n.4122G>C
n.4126G>C
1g.1048315G=CA1143427893AGRNc.4055G= (p.Gly1352=)
c.3740G= (p.Gly1247=)
c.3641G= (p.Gly1214=)
c.3182G= (p.Gly1061=)
c.2321G= (p.Gly774=)
n.4122G=
n.4126G=
1g.1048315G>TCA337853414AGRNc.4055G>T (p.Gly1352Val)
c.3740G>T (p.Gly1247Val)
c.3641G>T (p.Gly1214Val)
c.3182G>T (p.Gly1061Val)
c.2321G>T (p.Gly774Val)
n.4122G>T
n.4126G>T
 gnomAD v4
1g.1048316C>ACA415758491AGRNc.4056C>A (p.Gly1352=)
c.3741C>A (p.Gly1247=)
c.3642C>A (p.Gly1214=)
c.3183C>A (p.Gly1061=)
c.2322C>A (p.Gly774=)
n.4123C>A
n.4127C>A
 dbSNP gnomAD v2 gnomAD v4
1g.1048316C=CA1148805780AGRNc.4056C= (p.Gly1352=)
c.3741C= (p.Gly1247=)
c.3642C= (p.Gly1214=)
c.3183C= (p.Gly1061=)
c.2322C= (p.Gly774=)
n.4123C=
n.4127C=
1g.1048316C>GCA415758492AGRNc.4056C>G (p.Gly1352=)
c.3741C>G (p.Gly1247=)
c.3642C>G (p.Gly1214=)
c.3183C>G (p.Gly1061=)
c.2322C>G (p.Gly774=)
n.4123C>G
n.4127C>G
 gnomAD v4
1g.1048316C>TCA415758493AGRNc.4056C>T (p.Gly1352=)
c.3741C>T (p.Gly1247=)
c.3642C>T (p.Gly1214=)
c.3183C>T (p.Gly1061=)
c.2322C>T (p.Gly774=)
n.4123C>T
n.4127C>T
 gnomAD v4
1g.1048317T>ACA337853418AGRNc.4057T>A (p.Phe1353Ile)
c.3742T>A (p.Phe1248Ile)
c.3643T>A (p.Phe1215Ile)
c.3184T>A (p.Phe1062Ile)
c.2323T>A (p.Phe775Ile)
n.4124T>A
n.4128T>A
 gnomAD v4
1g.1048317T>CCA337853417AGRNc.4057T>C (p.Phe1353Leu)
c.3742T>C (p.Phe1248Leu)
c.3643T>C (p.Phe1215Leu)
c.3184T>C (p.Phe1062Leu)
c.2323T>C (p.Phe775Leu)
n.4124T>C
n.4128T>C
 gnomAD v4
1g.1048317T>GCA337853415AGRNc.4057T>G (p.Phe1353Val)
c.3742T>G (p.Phe1248Val)
c.3643T>G (p.Phe1215Val)
c.3184T>G (p.Phe1062Val)
c.2323T>G (p.Phe775Val)
n.4124T>G
n.4128T>G
1g.1048318T>ACA337853420AGRNc.4058T>A (p.Phe1353Tyr)
c.3743T>A (p.Phe1248Tyr)
c.3644T>A (p.Phe1215Tyr)
c.3185T>A (p.Phe1062Tyr)
c.2324T>A (p.Phe775Tyr)
n.4125T>A
n.4129T>A
 gnomAD v4
1g.1048318T>CCA337853419AGRNc.4058T>C (p.Phe1353Ser)
c.3743T>C (p.Phe1248Ser)
c.3644T>C (p.Phe1215Ser)
c.3185T>C (p.Phe1062Ser)
c.2324T>C (p.Phe775Ser)
n.4125T>C
n.4129T>C
 gnomAD v4
1g.1048318T>GCA337853421AGRNc.4058T>G (p.Phe1353Cys)
c.3743T>G (p.Phe1248Cys)
c.3644T>G (p.Phe1215Cys)
c.3185T>G (p.Phe1062Cys)
c.2324T>G (p.Phe775Cys)
n.4125T>G
n.4129T>G
1g.1048319C>ACA337853423AGRNc.4059C>A (p.Phe1353Leu)
c.3744C>A (p.Phe1248Leu)
c.3645C>A (p.Phe1215Leu)
c.3186C>A (p.Phe1062Leu)
c.2325C>A (p.Phe775Leu)
n.4126C>A
n.4130C>A
 dbSNP gnomAD v2 gnomAD v4
1g.1048319C=CA1148805815AGRNc.4059C= (p.Phe1353=)
c.3744C= (p.Phe1248=)
c.3645C= (p.Phe1215=)
c.3186C= (p.Phe1062=)
c.2325C= (p.Phe775=)
n.4126C=
n.4130C=
1g.1048319C>GCA337853425AGRNc.4059C>G (p.Phe1353Leu)
c.3744C>G (p.Phe1248Leu)
c.3645C>G (p.Phe1215Leu)
c.3186C>G (p.Phe1062Leu)
c.2325C>G (p.Phe775Leu)
n.4126C>G
n.4130C>G
1g.1048319C>TCA415758494AGRNc.4059C>T (p.Phe1353=)
c.3744C>T (p.Phe1248=)
c.3645C>T (p.Phe1215=)
c.3186C>T (p.Phe1062=)
c.2325C>T (p.Phe775=)
n.4126C>T
n.4130C>T
 gnomAD v4
1g.1048320A>CCA337853426AGRNc.4060A>C (p.Thr1354Pro)
c.3745A>C (p.Thr1249Pro)
c.3646A>C (p.Thr1216Pro)
c.3187A>C (p.Thr1063Pro)
c.2326A>C (p.Thr776Pro)
n.4127A>C
n.4131A>C
1g.1048320A>GCA337853428AGRNc.4060A>G (p.Thr1354Ala)
c.3745A>G (p.Thr1249Ala)
c.3646A>G (p.Thr1216Ala)
c.3187A>G (p.Thr1063Ala)
c.2326A>G (p.Thr776Ala)
n.4127A>G
n.4131A>G
 gnomAD v4
1g.1048320A>TCA337853433AGRNc.4060A>T (p.Thr1354Ser)
c.3745A>T (p.Thr1249Ser)
c.3646A>T (p.Thr1216Ser)
c.3187A>T (p.Thr1063Ser)
c.2326A>T (p.Thr776Ser)
n.4127A>T
n.4131A>T
1g.1048321C>ACA509305AGRNc.4061C>A (p.Thr1354Asn)
c.3746C>A (p.Thr1249Asn)
c.3647C>A (p.Thr1216Asn)
c.3188C>A (p.Thr1063Asn)
c.2327C>A (p.Thr776Asn)
n.4128C>A
n.4132C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048321C=CA1148805824AGRNc.4061C= (p.Thr1354=)
c.3746C= (p.Thr1249=)
c.3647C= (p.Thr1216=)
c.3188C= (p.Thr1063=)
c.2327C= (p.Thr776=)
n.4128C=
n.4132C=
1g.1048321C>GCA337853435AGRNc.4061C>G (p.Thr1354Ser)
c.3746C>G (p.Thr1249Ser)
c.3647C>G (p.Thr1216Ser)
c.3188C>G (p.Thr1063Ser)
c.2327C>G (p.Thr776Ser)
n.4128C>G
n.4132C>G
1g.1048321C>TCA337853436AGRNc.4061C>T (p.Thr1354Ile)
c.3746C>T (p.Thr1249Ile)
c.3647C>T (p.Thr1216Ile)
c.3188C>T (p.Thr1063Ile)
c.2327C>T (p.Thr776Ile)
n.4128C>T
n.4132C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.1048322C>ACA415758254AGRNc.4062C>A (p.Thr1354=)
c.3747C>A (p.Thr1249=)
c.3648C>A (p.Thr1216=)
c.3189C>A (p.Thr1063=)
c.2328C>A (p.Thr776=)
n.4129C>A
n.4133C>A
 gnomAD v4
1g.1048322C>GCA415758256AGRNc.4062C>G (p.Thr1354=)
c.3747C>G (p.Thr1249=)
c.3648C>G (p.Thr1216=)
c.3189C>G (p.Thr1063=)
c.2328C>G (p.Thr776=)
n.4129C>G
n.4133C>G
 gnomAD v4
1g.1048322C>TCA415758258AGRNc.4062C>T (p.Thr1354=)
c.3747C>T (p.Thr1249=)
c.3648C>T (p.Thr1216=)
c.3189C>T (p.Thr1063=)
c.2328C>T (p.Thr776=)
n.4129C>T
n.4133C>T
 ClinVar dbSNP gnomAD v4
1g.1048323T>ACA337853439AGRNc.4063T>A (p.Cys1355Ser)
c.3748T>A (p.Cys1250Ser)
c.3649T>A (p.Cys1217Ser)
c.3190T>A (p.Cys1064Ser)
c.2329T>A (p.Cys777Ser)
n.4130T>A
n.4134T>A
 gnomAD v4
1g.1048323T>CCA337853440AGRNc.4063T>C (p.Cys1355Arg)
c.3748T>C (p.Cys1250Arg)
c.3649T>C (p.Cys1217Arg)
c.3190T>C (p.Cys1064Arg)
c.2329T>C (p.Cys777Arg)
n.4130T>C
n.4134T>C
 gnomAD v4
1g.1048323T>GCA337853442AGRNc.4063T>G (p.Cys1355Gly)
c.3748T>G (p.Cys1250Gly)
c.3649T>G (p.Cys1217Gly)
c.3190T>G (p.Cys1064Gly)
c.2329T>G (p.Cys777Gly)
n.4130T>G
n.4134T>G
1g.1048324G>ACA337853445AGRNc.4064G>A (p.Cys1355Tyr)
c.3749G>A (p.Cys1250Tyr)
c.3650G>A (p.Cys1217Tyr)
c.3191G>A (p.Cys1064Tyr)
c.2330G>A (p.Cys777Tyr)
n.4131G>A
n.4135G>A
 gnomAD v4
1g.1048324G>CCA337853446AGRNc.4064G>C (p.Cys1355Ser)
c.3749G>C (p.Cys1250Ser)
c.3650G>C (p.Cys1217Ser)
c.3191G>C (p.Cys1064Ser)
c.2330G>C (p.Cys777Ser)
n.4131G>C
n.4135G>C
1g.1048324G>TCA337853449AGRNc.4064G>T (p.Cys1355Phe)
c.3749G>T (p.Cys1250Phe)
c.3650G>T (p.Cys1217Phe)
c.3191G>T (p.Cys1064Phe)
c.2330G>T (p.Cys777Phe)
n.4131G>T
n.4135G>T
 gnomAD v4
1g.1048325C>ACA337853451AGRNc.4065C>A (p.Cys1355Ter)
c.3750C>A (p.Cys1250Ter)
c.3651C>A (p.Cys1217Ter)
c.3192C>A (p.Cys1064Ter)
c.2331C>A (p.Cys777Ter)
n.4132C>A
n.4136C>A
 gnomAD v4
1g.1048325C>GCA337853452AGRNc.4065C>G (p.Cys1355Trp)
c.3750C>G (p.Cys1250Trp)
c.3651C>G (p.Cys1217Trp)
c.3192C>G (p.Cys1064Trp)
c.2331C>G (p.Cys777Trp)
n.4132C>G
n.4136C>G
 gnomAD v4
1g.1048325C>TCA415758264AGRNc.4065C>T (p.Cys1355=)
c.3750C>T (p.Cys1250=)
c.3651C>T (p.Cys1217=)
c.3192C>T (p.Cys1064=)
c.2331C>T (p.Cys777=)
n.4132C>T
n.4136C>T
 gnomAD v4
1g.1048326A=CA1148805837AGRNc.4066A= (p.Ser1356=)
c.3751A= (p.Ser1251=)
c.3652A= (p.Ser1218=)
c.3193A= (p.Ser1065=)
c.2332A= (p.Ser778=)
n.4133A=
n.4137A=
1g.1048326A>CCA509306AGRNc.4066A>C (p.Ser1356Arg)
c.3751A>C (p.Ser1251Arg)
c.3652A>C (p.Ser1218Arg)
c.3193A>C (p.Ser1065Arg)
c.2332A>C (p.Ser778Arg)
n.4133A>C
n.4137A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048326A>GCA337853454AGRNc.4066A>G (p.Ser1356Gly)
c.3751A>G (p.Ser1251Gly)
c.3652A>G (p.Ser1218Gly)
c.3193A>G (p.Ser1065Gly)
c.2332A>G (p.Ser778Gly)
n.4133A>G
n.4137A>G
 gnomAD v4
1g.1048326A>TCA337853456AGRNc.4066A>T (p.Ser1356Cys)
c.3751A>T (p.Ser1251Cys)
c.3652A>T (p.Ser1218Cys)
c.3193A>T (p.Ser1065Cys)
c.2332A>T (p.Ser778Cys)
n.4133A>T
n.4137A>T
1g.1048327G>ACA337853457AGRNc.4067G>A (p.Ser1356Asn)
c.3752G>A (p.Ser1251Asn)
c.3653G>A (p.Ser1218Asn)
c.3194G>A (p.Ser1065Asn)
c.2333G>A (p.Ser778Asn)
n.4134G>A
n.4138G>A
 gnomAD v4
1g.1048327G>CCA337853459AGRNc.4067G>C (p.Ser1356Thr)
c.3752G>C (p.Ser1251Thr)
c.3653G>C (p.Ser1218Thr)
c.3194G>C (p.Ser1065Thr)
c.2333G>C (p.Ser778Thr)
n.4134G>C
n.4138G>C
1g.1048327G=CA1148805845AGRNc.4067G= (p.Ser1356=)
c.3752G= (p.Ser1251=)
c.3653G= (p.Ser1218=)
c.3194G= (p.Ser1065=)
c.2333G= (p.Ser778=)
n.4134G=
n.4138G=
1g.1048327G>TCA337853461AGRNc.4067G>T (p.Ser1356Ile)
c.3752G>T (p.Ser1251Ile)
c.3653G>T (p.Ser1218Ile)
c.3194G>T (p.Ser1065Ile)
c.2333G>T (p.Ser778Ile)
n.4134G>T
n.4138G>T
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched