Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.1049685T>ACA337778800AGRNc.4634T>A (p.Val1545Glu)
c.4319T>A (p.Val1440Glu)
c.4220T>A (p.Val1407Glu)
c.3761T>A (p.Val1254Glu)
c.2900T>A (p.Val967Glu)
n.4701T>A
n.4705T>A
1g.1049685T>CCA337778802AGRNc.4634T>C (p.Val1545Ala)
c.4319T>C (p.Val1440Ala)
c.4220T>C (p.Val1407Ala)
c.3761T>C (p.Val1254Ala)
c.2900T>C (p.Val967Ala)
n.4701T>C
n.4705T>C
1g.1049685T>GCA337778803AGRNc.4634T>G (p.Val1545Gly)
c.4319T>G (p.Val1440Gly)
c.4220T>G (p.Val1407Gly)
c.3761T>G (p.Val1254Gly)
c.2900T>G (p.Val967Gly)
n.4701T>G
n.4705T>G
1g.1049686G>ACA415758739AGRNc.4635G>A (p.Val1545=)
c.4320G>A (p.Val1440=)
c.4221G>A (p.Val1407=)
c.3762G>A (p.Val1254=)
c.2901G>A (p.Val967=)
n.4702G>A
n.4706G>A
 gnomAD v4
1g.1049686G>CCA415758740AGRNc.4635G>C (p.Val1545=)
c.4320G>C (p.Val1440=)
c.4221G>C (p.Val1407=)
c.3762G>C (p.Val1254=)
c.2901G>C (p.Val967=)
n.4702G>C
n.4706G>C
1g.1049686G>TCA415758742AGRNc.4635G>T (p.Val1545=)
c.4320G>T (p.Val1440=)
c.4221G>T (p.Val1407=)
c.3762G>T (p.Val1254=)
c.2901G>T (p.Val967=)
n.4702G>T
n.4706G>T
 gnomAD v4
1g.1049687G>ACA337778804AGRNc.4636G>A (p.Gly1546Ser)
c.4321G>A (p.Gly1441Ser)
c.4222G>A (p.Gly1408Ser)
c.3763G>A (p.Gly1255Ser)
c.2902G>A (p.Gly968Ser)
n.4703G>A
n.4707G>A
 dbSNP gnomAD v2
1g.1049687G>CCA337778805AGRNc.4636G>C (p.Gly1546Arg)
c.4321G>C (p.Gly1441Arg)
c.4222G>C (p.Gly1408Arg)
c.3763G>C (p.Gly1255Arg)
c.2902G>C (p.Gly968Arg)
n.4703G>C
n.4707G>C
1g.1049687G=CA1148745026AGRNc.4636G= (p.Gly1546=)
c.4321G= (p.Gly1441=)
c.4222G= (p.Gly1408=)
c.3763G= (p.Gly1255=)
c.2902G= (p.Gly968=)
n.4703G=
n.4707G=
1g.1049687G>TCA337778806AGRNc.4636G>T (p.Gly1546Cys)
c.4321G>T (p.Gly1441Cys)
c.4222G>T (p.Gly1408Cys)
c.3763G>T (p.Gly1255Cys)
c.2902G>T (p.Gly968Cys)
n.4703G>T
n.4707G>T
 ClinVar gnomAD v4
1g.1049688G>ACA337778807AGRNc.4637G>A (p.Gly1546Asp)
c.4322G>A (p.Gly1441Asp)
c.4223G>A (p.Gly1408Asp)
c.3764G>A (p.Gly1255Asp)
c.2903G>A (p.Gly968Asp)
n.4704G>A
n.4708G>A
 gnomAD v4
1g.1049688G>CCA337778808AGRNc.4637G>C (p.Gly1546Ala)
c.4322G>C (p.Gly1441Ala)
c.4223G>C (p.Gly1408Ala)
c.3764G>C (p.Gly1255Ala)
c.2903G>C (p.Gly968Ala)
n.4704G>C
n.4708G>C
1g.1049688G>TCA337778809AGRNc.4637G>T (p.Gly1546Val)
c.4322G>T (p.Gly1441Val)
c.4223G>T (p.Gly1408Val)
c.3764G>T (p.Gly1255Val)
c.2903G>T (p.Gly968Val)
n.4704G>T
n.4708G>T
 gnomAD v4
1g.1049689C>ACA415758745AGRNc.4638C>A (p.Gly1546=)
c.4323C>A (p.Gly1441=)
c.4224C>A (p.Gly1408=)
c.3765C>A (p.Gly1255=)
c.2904C>A (p.Gly968=)
n.4705C>A
n.4709C>A
 gnomAD v4
1g.1049689C=CA1148745077AGRNc.4638C= (p.Gly1546=)
c.4323C= (p.Gly1441=)
c.4224C= (p.Gly1408=)
c.3765C= (p.Gly1255=)
c.2904C= (p.Gly968=)
n.4705C=
n.4709C=
1g.1049689C>GCA415758746AGRNc.4638C>G (p.Gly1546=)
c.4323C>G (p.Gly1441=)
c.4224C>G (p.Gly1408=)
c.3765C>G (p.Gly1255=)
c.2904C>G (p.Gly968=)
n.4705C>G
n.4709C>G
1g.1049689C>TCA509557AGRNc.4638C>T (p.Gly1546=)
c.4323C>T (p.Gly1441=)
c.4224C>T (p.Gly1408=)
c.3765C>T (p.Gly1255=)
c.2904C>T (p.Gly968=)
n.4705C>T
n.4709C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1049690G>ACA509558AGRNc.4639G>A (p.Glu1547Lys)
c.4324G>A (p.Glu1442Lys)
c.4225G>A (p.Glu1409Lys)
c.3766G>A (p.Glu1256Lys)
c.2905G>A (p.Glu969Lys)
n.4706G>A
n.4710G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049690G>CCA337778811AGRNc.4639G>C (p.Glu1547Gln)
c.4324G>C (p.Glu1442Gln)
c.4225G>C (p.Glu1409Gln)
c.3766G>C (p.Glu1256Gln)
c.2905G>C (p.Glu969Gln)
n.4706G>C
n.4710G>C
1g.1049690G=CA1139961886AGRNc.4639G= (p.Glu1547=)
c.4324G= (p.Glu1442=)
c.4225G= (p.Glu1409=)
c.3766G= (p.Glu1256=)
c.2905G= (p.Glu969=)
n.4706G=
n.4710G=
1g.1049690G>TCA337778810AGRNc.4639G>T (p.Glu1547Ter)
c.4324G>T (p.Glu1442Ter)
c.4225G>T (p.Glu1409Ter)
c.3766G>T (p.Glu1256Ter)
c.2905G>T (p.Glu969Ter)
n.4706G>T
n.4710G>T
 gnomAD v4
1g.1049691A>CCA337778812AGRNc.4640A>C (p.Glu1547Ala)
c.4325A>C (p.Glu1442Ala)
c.4226A>C (p.Glu1409Ala)
c.3767A>C (p.Glu1256Ala)
c.2906A>C (p.Glu969Ala)
n.4707A>C
n.4711A>C
1g.1049691A>GCA337778813AGRNc.4640A>G (p.Glu1547Gly)
c.4325A>G (p.Glu1442Gly)
c.4226A>G (p.Glu1409Gly)
c.3767A>G (p.Glu1256Gly)
c.2906A>G (p.Glu969Gly)
n.4707A>G
n.4711A>G
1g.1049691A>TCA337778814AGRNc.4640A>T (p.Glu1547Val)
c.4325A>T (p.Glu1442Val)
c.4226A>T (p.Glu1409Val)
c.3767A>T (p.Glu1256Val)
c.2906A>T (p.Glu969Val)
n.4707A>T
n.4711A>T
1g.1049692G>ACA415758750AGRNc.4641G>A (p.Glu1547=)
c.4326G>A (p.Glu1442=)
c.4227G>A (p.Glu1409=)
c.3768G>A (p.Glu1256=)
c.2907G>A (p.Glu969=)
n.4708G>A
n.4712G>A
 dbSNP
1g.1049692G>CCA337778815AGRNc.4641G>C (p.Glu1547Asp)
c.4326G>C (p.Glu1442Asp)
c.4227G>C (p.Glu1409Asp)
c.3768G>C (p.Glu1256Asp)
c.2907G>C (p.Glu969Asp)
n.4708G>C
n.4712G>C
 gnomAD v4
1g.1049692G=CA1148745126AGRNc.4641G= (p.Glu1547=)
c.4326G= (p.Glu1442=)
c.4227G= (p.Glu1409=)
c.3768G= (p.Glu1256=)
c.2907G= (p.Glu969=)
n.4708G=
n.4712G=
1g.1049692G>TCA337778816AGRNc.4641G>T (p.Glu1547Asp)
c.4326G>T (p.Glu1442Asp)
c.4227G>T (p.Glu1409Asp)
c.3768G>T (p.Glu1256Asp)
c.2907G>T (p.Glu969Asp)
n.4708G>T
n.4712G>T
 gnomAD v4
1g.1049693T>ACA337778822AGRNc.4642T>A (p.Cys1548Ser)
c.4327T>A (p.Cys1443Ser)
c.4228T>A (p.Cys1410Ser)
c.3769T>A (p.Cys1257Ser)
c.2908T>A (p.Cys970Ser)
n.4709T>A
n.4713T>A
1g.1049693T>CCA337778824AGRNc.4642T>C (p.Cys1548Arg)
c.4327T>C (p.Cys1443Arg)
c.4228T>C (p.Cys1410Arg)
c.3769T>C (p.Cys1257Arg)
c.2908T>C (p.Cys970Arg)
n.4709T>C
n.4713T>C
1g.1049693T>GCA337778825AGRNc.4642T>G (p.Cys1548Gly)
c.4327T>G (p.Cys1443Gly)
c.4228T>G (p.Cys1410Gly)
c.3769T>G (p.Cys1257Gly)
c.2908T>G (p.Cys970Gly)
n.4709T>G
n.4713T>G
1g.1049694G>ACA337778827AGRNc.4643G>A (p.Cys1548Tyr)
c.4328G>A (p.Cys1443Tyr)
c.4229G>A (p.Cys1410Tyr)
c.3770G>A (p.Cys1257Tyr)
c.2909G>A (p.Cys970Tyr)
n.4710G>A
n.4714G>A
 gnomAD v4
1g.1049694G>CCA337778829AGRNc.4643G>C (p.Cys1548Ser)
c.4328G>C (p.Cys1443Ser)
c.4229G>C (p.Cys1410Ser)
c.3770G>C (p.Cys1257Ser)
c.2909G>C (p.Cys970Ser)
n.4710G>C
n.4714G>C
1g.1049694G>TCA337778831AGRNc.4643G>T (p.Cys1548Phe)
c.4328G>T (p.Cys1443Phe)
c.4229G>T (p.Cys1410Phe)
c.3770G>T (p.Cys1257Phe)
c.2909G>T (p.Cys970Phe)
n.4710G>T
n.4714G>T
 gnomAD v4
1g.1049695C>ACA337778832AGRNc.4644C>A (p.Cys1548Ter)
c.4329C>A (p.Cys1443Ter)
c.4230C>A (p.Cys1410Ter)
c.3771C>A (p.Cys1257Ter)
c.2910C>A (p.Cys970Ter)
n.4711C>A
n.4715C>A
 gnomAD v4
1g.1049695C=CA1148745148AGRNc.4644C= (p.Cys1548=)
c.4329C= (p.Cys1443=)
c.4230C= (p.Cys1410=)
c.3771C= (p.Cys1257=)
c.2910C= (p.Cys970=)
n.4711C=
n.4715C=
1g.1049695C>GCA337778834AGRNc.4644C>G (p.Cys1548Trp)
c.4329C>G (p.Cys1443Trp)
c.4230C>G (p.Cys1410Trp)
c.3771C>G (p.Cys1257Trp)
c.2910C>G (p.Cys970Trp)
n.4711C>G
n.4715C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.1049695C>TCA509559AGRNc.4644C>T (p.Cys1548=)
c.4329C>T (p.Cys1443=)
c.4230C>T (p.Cys1410=)
c.3771C>T (p.Cys1257=)
c.2910C>T (p.Cys970=)
n.4711C>T
n.4715C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049696G>ACA509560AGRNc.4645G>A (p.Gly1549Arg)
c.4330G>A (p.Gly1444Arg)
c.4231G>A (p.Gly1411Arg)
c.3772G>A (p.Gly1258Arg)
c.2911G>A (p.Gly971Arg)
n.4712G>A
n.4716G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049696G>CCA337778839AGRNc.4645G>C (p.Gly1549Arg)
c.4330G>C (p.Gly1444Arg)
c.4231G>C (p.Gly1411Arg)
c.3772G>C (p.Gly1258Arg)
c.2911G>C (p.Gly971Arg)
n.4712G>C
n.4716G>C
 gnomAD v4
1g.1049696G=CA1148745172AGRNc.4645G= (p.Gly1549=)
c.4330G= (p.Gly1444=)
c.4231G= (p.Gly1411=)
c.3772G= (p.Gly1258=)
c.2911G= (p.Gly971=)
n.4712G=
n.4716G=
1g.1049696G>TCA337778837AGRNc.4645G>T (p.Gly1549Trp)
c.4330G>T (p.Gly1444Trp)
c.4231G>T (p.Gly1411Trp)
c.3772G>T (p.Gly1258Trp)
c.2911G>T (p.Gly971Trp)
n.4712G>T
n.4716G>T
 gnomAD v4
1g.1049699delCA2642496639AGRNc.4648del (p.Asp1550ThrfsTer?)
c.4333del (p.Asp1445ThrfsTer?)
c.4234del (p.Asp1412ThrfsTer?)
c.3775del (p.Asp1259ThrfsTer?)
c.2914del (p.Asp972ThrfsTer?)
n.4715del
n.4719del
 gnomAD v4
1g.1049697G>ACA337778841AGRNc.4646G>A (p.Gly1549Glu)
c.4331G>A (p.Gly1444Glu)
c.4232G>A (p.Gly1411Glu)
c.3773G>A (p.Gly1258Glu)
c.2912G>A (p.Gly971Glu)
n.4713G>A
n.4717G>A
1g.1049697G>CCA337778843AGRNc.4646G>C (p.Gly1549Ala)
c.4331G>C (p.Gly1444Ala)
c.4232G>C (p.Gly1411Ala)
c.3773G>C (p.Gly1258Ala)
c.2912G>C (p.Gly971Ala)
n.4713G>C
n.4717G>C
1g.1049697G>TCA337778845AGRNc.4646G>T (p.Gly1549Val)
c.4331G>T (p.Gly1444Val)
c.4232G>T (p.Gly1411Val)
c.3773G>T (p.Gly1258Val)
c.2912G>T (p.Gly971Val)
n.4713G>T
n.4717G>T
 gnomAD v4 COSMIC
1g.1049698G>ACA415758760AGRNc.4647G>A (p.Gly1549=)
c.4332G>A (p.Gly1444=)
c.4233G>A (p.Gly1411=)
c.3774G>A (p.Gly1258=)
c.2913G>A (p.Gly971=)
n.4714G>A
n.4718G>A
 dbSNP gnomAD v2 gnomAD v4
1g.1049698G>CCA415758761AGRNc.4647G>C (p.Gly1549=)
c.4332G>C (p.Gly1444=)
c.4233G>C (p.Gly1411=)
c.3774G>C (p.Gly1258=)
c.2913G>C (p.Gly971=)
n.4714G>C
n.4718G>C
1g.1049698G=CA1148745181AGRNc.4647G= (p.Gly1549=)
c.4332G= (p.Gly1444=)
c.4233G= (p.Gly1411=)
c.3774G= (p.Gly1258=)
c.2913G= (p.Gly971=)
n.4714G=
n.4718G=
1g.1049698G>TCA415758762AGRNc.4647G>T (p.Gly1549=)
c.4332G>T (p.Gly1444=)
c.4233G>T (p.Gly1411=)
c.3774G>T (p.Gly1258=)
c.2913G>T (p.Gly971=)
n.4714G>T
n.4718G>T
 gnomAD v4
1g.1049699G>ACA509561AGRNc.4648G>A (p.Asp1550Asn)
c.4333G>A (p.Asp1445Asn)
c.4234G>A (p.Asp1412Asn)
c.3775G>A (p.Asp1259Asn)
c.2914G>A (p.Asp972Asn)
n.4715G>A
n.4719G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049699G>CCA337778848AGRNc.4648G>C (p.Asp1550His)
c.4333G>C (p.Asp1445His)
c.4234G>C (p.Asp1412His)
c.3775G>C (p.Asp1259His)
c.2914G>C (p.Asp972His)
n.4715G>C
n.4719G>C
 dbSNP gnomAD v2 gnomAD v4
1g.1049699G=CA1148745224AGRNc.4648G= (p.Asp1550=)
c.4333G= (p.Asp1445=)
c.4234G= (p.Asp1412=)
c.3775G= (p.Asp1259=)
c.2914G= (p.Asp972=)
n.4715G=
n.4719G=
1g.1049699G>TCA16700683AGRNc.4648G>T (p.Asp1550Tyr)
c.4333G>T (p.Asp1445Tyr)
c.4234G>T (p.Asp1412Tyr)
c.3775G>T (p.Asp1259Tyr)
c.2914G>T (p.Asp972Tyr)
n.4715G>T
n.4719G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1049700A>CCA337778858AGRNc.4649A>C (p.Asp1550Ala)
c.4334A>C (p.Asp1445Ala)
c.4235A>C (p.Asp1412Ala)
c.3776A>C (p.Asp1259Ala)
c.2915A>C (p.Asp972Ala)
n.4716A>C
n.4720A>C
 gnomAD v4
1g.1049700A>GCA337778854AGRNc.4649A>G (p.Asp1550Gly)
c.4334A>G (p.Asp1445Gly)
c.4235A>G (p.Asp1412Gly)
c.3776A>G (p.Asp1259Gly)
c.2915A>G (p.Asp972Gly)
n.4716A>G
n.4720A>G
1g.1049700A>TCA337778856AGRNc.4649A>T (p.Asp1550Val)
c.4334A>T (p.Asp1445Val)
c.4235A>T (p.Asp1412Val)
c.3776A>T (p.Asp1259Val)
c.2915A>T (p.Asp972Val)
n.4716A>T
n.4720A>T
1g.1049701C>ACA337778861AGRNc.4650C>A (p.Asp1550Glu)
c.4335C>A (p.Asp1445Glu)
c.4236C>A (p.Asp1412Glu)
c.3777C>A (p.Asp1259Glu)
c.2916C>A (p.Asp972Glu)
n.4717C>A
n.4721C>A
1g.1049701C=CA1148452500AGRNc.4650C= (p.Asp1550=)
c.4335C= (p.Asp1445=)
c.4236C= (p.Asp1412=)
c.3777C= (p.Asp1259=)
c.2916C= (p.Asp972=)
n.4717C=
n.4721C=
1g.1049701C>GCA509562AGRNc.4650C>G (p.Asp1550Glu)
c.4335C>G (p.Asp1445Glu)
c.4236C>G (p.Asp1412Glu)
c.3777C>G (p.Asp1259Glu)
c.2916C>G (p.Asp972Glu)
n.4717C>G
n.4721C>G
 dbSNP ExAC gnomAD v2
1g.1049701C>TCA415758765AGRNc.4650C>T (p.Asp1550=)
c.4335C>T (p.Asp1445=)
c.4236C>T (p.Asp1412=)
c.3777C>T (p.Asp1259=)
c.2916C>T (p.Asp972=)
n.4717C>T
n.4721C>T
 gnomAD v4
1g.1049702C>ACA337778864AGRNc.4651C>A (p.His1551Asn)
c.4336C>A (p.His1446Asn)
c.4237C>A (p.His1413Asn)
c.3778C>A (p.His1260Asn)
c.2917C>A (p.His973Asn)
n.4718C>A
n.4722C>A
 gnomAD v4
1g.1049702C=CA1148745235AGRNc.4651C= (p.His1551=)
c.4336C= (p.His1446=)
c.4237C= (p.His1413=)
c.3778C= (p.His1260=)
c.2917C= (p.His973=)
n.4718C=
n.4722C=
1g.1049702C>GCA337778866AGRNc.4651C>G (p.His1551Asp)
c.4336C>G (p.His1446Asp)
c.4237C>G (p.His1413Asp)
c.3778C>G (p.His1260Asp)
c.2917C>G (p.His973Asp)
n.4718C>G
n.4722C>G
1g.1049702C>TCA509563AGRNc.4651C>T (p.His1551Tyr)
c.4336C>T (p.His1446Tyr)
c.4237C>T (p.His1413Tyr)
c.3778C>T (p.His1260Tyr)
c.2917C>T (p.His973Tyr)
n.4718C>T
n.4722C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049703_1049704delCA2642496654AGRNc.4652_4653del (p.His1551ProfsTer?)
c.4337_4338del (p.His1446ProfsTer?)
c.4238_4239del (p.His1413ProfsTer?)
c.3779_3780del (p.His1260ProfsTer?)
c.2918_2919del (p.His973ProfsTer?)
n.4719_4720del
n.4723_4724del
 gnomAD v4
1g.1049702_1049717delinsCACCCCTGCCTGCCCACA1148745247AGRNc.4651_4666delinsCACCCCTGCCTGCCCA (p.His1551=)
c.4336_4351delinsCACCCCTGCCTGCCCA (p.His1446=)
c.4237_4252delinsCACCCCTGCCTGCCCA (p.His1413=)
c.3778_3793delinsCACCCCTGCCTGCCCA (p.His1260=)
c.2917_2932delinsCACCCCTGCCTGCCCA (p.His973=)
n.4718_4733delinsCACCCCTGCCTGCCCA
n.4722_4737delinsCACCCCTGCCTGCCCA
1g.1049703A=CA1144198616AGRNc.4652A= (p.His1551=)
c.4337A= (p.His1446=)
c.4238A= (p.His1413=)
c.3779A= (p.His1260=)
c.2918A= (p.His973=)
n.4719A=
n.4723A=
1g.1049703A>CCA509565AGRNc.4652A>C (p.His1551Pro)
c.4337A>C (p.His1446Pro)
c.4238A>C (p.His1413Pro)
c.3779A>C (p.His1260Pro)
c.2918A>C (p.His973Pro)
n.4719A>C
n.4723A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049703A>GCA509564AGRNc.4652A>G (p.His1551Arg)
c.4337A>G (p.His1446Arg)
c.4238A>G (p.His1413Arg)
c.3779A>G (p.His1260Arg)
c.2918A>G (p.His973Arg)
n.4719A>G
n.4723A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049703A>TCA337778869AGRNc.4652A>T (p.His1551Leu)
c.4337A>T (p.His1446Leu)
c.4238A>T (p.His1413Leu)
c.3779A>T (p.His1260Leu)
c.2918A>T (p.His973Leu)
n.4719A>T
n.4723A>T
1g.1049712_1049726dupCA2642496663AGRNc.4661_4675dup (p.Cys1558_His1559insLeuProAsnProCys)
c.4346_4360dup (p.Cys1453_His1454insLeuProAsnProCys)
c.4247_4261dup (p.Cys1420_His1421insLeuProAsnProCys)
c.3788_3802dup (p.Cys1267_His1268insLeuProAsnProCys)
c.2927_2941dup (p.Cys980_His981insLeuProAsnProCys)
n.4728_4742dup
n.4732_4746dup
 gnomAD v4
1g.1049712_1049726delCA520619263AGRNc.4661_4675del (p.Leu1554_Cys1558del)
c.4346_4360del (p.Leu1449_Cys1453del)
c.4247_4261del (p.Leu1416_Cys1420del)
c.3788_3802del (p.Leu1263_Cys1267del)
c.2927_2941del (p.Leu976_Cys980del)
n.4728_4742del
n.4732_4746del
 dbSNP gnomAD v2 gnomAD v4
1g.1049704C>ACA337778874AGRNc.4653C>A (p.His1551Gln)
c.4338C>A (p.His1446Gln)
c.4239C>A (p.His1413Gln)
c.3780C>A (p.His1260Gln)
c.2919C>A (p.His973Gln)
n.4720C>A
n.4724C>A
 gnomAD v4
1g.1049704C=CA1148745276AGRNc.4653C= (p.His1551=)
c.4338C= (p.His1446=)
c.4239C= (p.His1413=)
c.3780C= (p.His1260=)
c.2919C= (p.His973=)
n.4720C=
n.4724C=
1g.1049704C>GCA337778876AGRNc.4653C>G (p.His1551Gln)
c.4338C>G (p.His1446Gln)
c.4239C>G (p.His1413Gln)
c.3780C>G (p.His1260Gln)
c.2919C>G (p.His973Gln)
n.4720C>G
n.4724C>G
1g.1049704C>TCA415758769AGRNc.4653C>T (p.His1551=)
c.4338C>T (p.His1446=)
c.4239C>T (p.His1413=)
c.3780C>T (p.His1260=)
c.2919C>T (p.His973=)
n.4720C>T
n.4724C>T
 dbSNP gnomAD v4
1g.1049707delCA2642496668AGRNc.4656del (p.Cys1553AlafsTer?)
c.4341del (p.Cys1448AlafsTer?)
c.4242del (p.Cys1415AlafsTer?)
c.3783del (p.Cys1262AlafsTer?)
c.2922del (p.Cys975AlafsTer?)
n.4723del
n.4727del
 gnomAD v4
1g.1049705C>ACA337778889AGRNc.4654C>A (p.Pro1552Thr)
c.4339C>A (p.Pro1447Thr)
c.4240C>A (p.Pro1414Thr)
c.3781C>A (p.Pro1261Thr)
c.2920C>A (p.Pro974Thr)
n.4721C>A
n.4725C>A
 gnomAD v4
1g.1049705C=CA1148745282AGRNc.4654C= (p.Pro1552=)
c.4339C= (p.Pro1447=)
c.4240C= (p.Pro1414=)
c.3781C= (p.Pro1261=)
c.2920C= (p.Pro974=)
n.4721C=
n.4725C=
1g.1049705C>GCA337778892AGRNc.4654C>G (p.Pro1552Ala)
c.4339C>G (p.Pro1447Ala)
c.4240C>G (p.Pro1414Ala)
c.3781C>G (p.Pro1261Ala)
c.2920C>G (p.Pro974Ala)
n.4721C>G
n.4725C>G
1g.1049705C>TCA509566AGRNc.4654C>T (p.Pro1552Ser)
c.4339C>T (p.Pro1447Ser)
c.4240C>T (p.Pro1414Ser)
c.3781C>T (p.Pro1261Ser)
c.2920C>T (p.Pro974Ser)
n.4721C>T
n.4725C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049706C>ACA337778897AGRNc.4655C>A (p.Pro1552His)
c.4340C>A (p.Pro1447His)
c.4241C>A (p.Pro1414His)
c.3782C>A (p.Pro1261His)
c.2921C>A (p.Pro974His)
n.4722C>A
n.4726C>A
 gnomAD v4
1g.1049706C=CA1148745293AGRNc.4655C= (p.Pro1552=)
c.4340C= (p.Pro1447=)
c.4241C= (p.Pro1414=)
c.3782C= (p.Pro1261=)
c.2921C= (p.Pro974=)
n.4722C=
n.4726C=
1g.1049706C>GCA337778898AGRNc.4655C>G (p.Pro1552Arg)
c.4340C>G (p.Pro1447Arg)
c.4241C>G (p.Pro1414Arg)
c.3782C>G (p.Pro1261Arg)
c.2921C>G (p.Pro974Arg)
n.4722C>G
n.4726C>G
1g.1049706C>TCA509567AGRNc.4655C>T (p.Pro1552Leu)
c.4340C>T (p.Pro1447Leu)
c.4241C>T (p.Pro1414Leu)
c.3782C>T (p.Pro1261Leu)
c.2921C>T (p.Pro974Leu)
n.4722C>T
n.4726C>T
 dbSNP ExAC gnomAD v3 gnomAD v4
1g.1049707C>ACA415758772AGRNc.4656C>A (p.Pro1552=)
c.4341C>A (p.Pro1447=)
c.4242C>A (p.Pro1414=)
c.3783C>A (p.Pro1261=)
c.2922C>A (p.Pro974=)
n.4723C>A
n.4727C>A
 gnomAD v4
1g.1049707C=CA1148745339AGRNc.4656C= (p.Pro1552=)
c.4341C= (p.Pro1447=)
c.4242C= (p.Pro1414=)
c.3783C= (p.Pro1261=)
c.2922C= (p.Pro974=)
n.4723C=
n.4727C=
1g.1049707C>GCA415758774AGRNc.4656C>G (p.Pro1552=)
c.4341C>G (p.Pro1447=)
c.4242C>G (p.Pro1414=)
c.3783C>G (p.Pro1261=)
c.2922C>G (p.Pro974=)
n.4723C>G
n.4727C>G
1g.1049707C>TCA16700691AGRNc.4656C>T (p.Pro1552=)
c.4341C>T (p.Pro1447=)
c.4242C>T (p.Pro1414=)
c.3783C>T (p.Pro1261=)
c.2922C>T (p.Pro974=)
n.4723C>T
n.4727C>T
 dbSNP gnomAD v3 gnomAD v4
1g.1049708delCA2586964140AGRNc.4657del (p.Cys1553AlafsTer?)
c.4342del (p.Cys1448AlafsTer?)
c.4243del (p.Cys1415AlafsTer?)
c.3784del (p.Cys1262AlafsTer?)
c.2923del (p.Cys975AlafsTer?)
n.4724del
n.4728del
1g.1049708T>ACA337778902AGRNc.4657T>A (p.Cys1553Ser)
c.4342T>A (p.Cys1448Ser)
c.4243T>A (p.Cys1415Ser)
c.3784T>A (p.Cys1262Ser)
c.2923T>A (p.Cys975Ser)
n.4724T>A
n.4728T>A
1g.1049708T>CCA337778904AGRNc.4657T>C (p.Cys1553Arg)
c.4342T>C (p.Cys1448Arg)
c.4243T>C (p.Cys1415Arg)
c.3784T>C (p.Cys1262Arg)
c.2923T>C (p.Cys975Arg)
n.4724T>C
n.4728T>C
1g.1049708T>GCA337778906AGRNc.4657T>G (p.Cys1553Gly)
c.4342T>G (p.Cys1448Gly)
c.4243T>G (p.Cys1415Gly)
c.3784T>G (p.Cys1262Gly)
c.2923T>G (p.Cys975Gly)
n.4724T>G
n.4728T>G
1g.1049709G>ACA337778908AGRNc.4658G>A (p.Cys1553Tyr)
c.4343G>A (p.Cys1448Tyr)
c.4244G>A (p.Cys1415Tyr)
c.3785G>A (p.Cys1262Tyr)
c.2924G>A (p.Cys975Tyr)
n.4725G>A
n.4729G>A
 gnomAD v4
1g.1049709G>CCA337778921AGRNc.4658G>C (p.Cys1553Ser)
c.4343G>C (p.Cys1448Ser)
c.4244G>C (p.Cys1415Ser)
c.3785G>C (p.Cys1262Ser)
c.2924G>C (p.Cys975Ser)
n.4725G>C
n.4729G>C
1g.1049709G>TCA337778911AGRNc.4658G>T (p.Cys1553Phe)
c.4343G>T (p.Cys1448Phe)
c.4244G>T (p.Cys1415Phe)
c.3785G>T (p.Cys1262Phe)
c.2924G>T (p.Cys975Phe)
n.4725G>T
n.4729G>T
 gnomAD v4
1g.1049710C>ACA337778923AGRNc.4659C>A (p.Cys1553Ter)
c.4344C>A (p.Cys1448Ter)
c.4245C>A (p.Cys1415Ter)
c.3786C>A (p.Cys1262Ter)
c.2925C>A (p.Cys975Ter)
n.4726C>A
n.4730C>A
 gnomAD v4
1g.1049710C=CA1148745345AGRNc.4659C= (p.Cys1553=)
c.4344C= (p.Cys1448=)
c.4245C= (p.Cys1415=)
c.3786C= (p.Cys1262=)
c.2925C= (p.Cys975=)
n.4726C=
n.4730C=
1g.1049710C>GCA337778924AGRNc.4659C>G (p.Cys1553Trp)
c.4344C>G (p.Cys1448Trp)
c.4245C>G (p.Cys1415Trp)
c.3786C>G (p.Cys1262Trp)
c.2925C>G (p.Cys975Trp)
n.4726C>G
n.4730C>G
1g.1049710C>TCA415758782AGRNc.4659C>T (p.Cys1553=)
c.4344C>T (p.Cys1448=)
c.4245C>T (p.Cys1415=)
c.3786C>T (p.Cys1262=)
c.2925C>T (p.Cys975=)
n.4726C>T
n.4730C>T
 dbSNP gnomAD v2 gnomAD v4
1g.1049711C>ACA337778926AGRNc.4660C>A (p.Leu1554Met)
c.4345C>A (p.Leu1449Met)
c.4246C>A (p.Leu1416Met)
c.3787C>A (p.Leu1263Met)
c.2926C>A (p.Leu976Met)
n.4727C>A
n.4731C>A
1g.1049711C=CA1148745380AGRNc.4660C= (p.Leu1554=)
c.4345C= (p.Leu1449=)
c.4246C= (p.Leu1416=)
c.3787C= (p.Leu1263=)
c.2926C= (p.Leu976=)
n.4727C=
n.4731C=
1g.1049711C>GCA337778928AGRNc.4660C>G (p.Leu1554Val)
c.4345C>G (p.Leu1449Val)
c.4246C>G (p.Leu1416Val)
c.3787C>G (p.Leu1263Val)
c.2926C>G (p.Leu976Val)
n.4727C>G
n.4731C>G
1g.1049711C>TCA415758783AGRNc.4660C>T (p.Leu1554=)
c.4345C>T (p.Leu1449=)
c.4246C>T (p.Leu1416=)
c.3787C>T (p.Leu1263=)
c.2926C>T (p.Leu976=)
n.4727C>T
n.4731C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1049712T>ACA337778929AGRNc.4661T>A (p.Leu1554Gln)
c.4346T>A (p.Leu1449Gln)
c.4247T>A (p.Leu1416Gln)
c.3788T>A (p.Leu1263Gln)
c.2927T>A (p.Leu976Gln)
n.4728T>A
n.4732T>A
 gnomAD v3 gnomAD v4
1g.1049712T>CCA337778930AGRNc.4661T>C (p.Leu1554Pro)
c.4346T>C (p.Leu1449Pro)
c.4247T>C (p.Leu1416Pro)
c.3788T>C (p.Leu1263Pro)
c.2927T>C (p.Leu976Pro)
n.4728T>C
n.4732T>C
1g.1049712T>GCA337778931AGRNc.4661T>G (p.Leu1554Arg)
c.4346T>G (p.Leu1449Arg)
c.4247T>G (p.Leu1416Arg)
c.3788T>G (p.Leu1263Arg)
c.2927T>G (p.Leu976Arg)
n.4728T>G
n.4732T>G
1g.1049713G>ACA415758786AGRNc.4662G>A (p.Leu1554=)
c.4347G>A (p.Leu1449=)
c.4248G>A (p.Leu1416=)
c.3789G>A (p.Leu1263=)
c.2928G>A (p.Leu976=)
n.4729G>A
n.4733G>A
 gnomAD v4
1g.1049713G>CCA415758789AGRNc.4662G>C (p.Leu1554=)
c.4347G>C (p.Leu1449=)
c.4248G>C (p.Leu1416=)
c.3789G>C (p.Leu1263=)
c.2928G>C (p.Leu976=)
n.4729G>C
n.4733G>C
 dbSNP gnomAD v2 gnomAD v4
1g.1049713G=CA1148745390AGRNc.4662G= (p.Leu1554=)
c.4347G= (p.Leu1449=)
c.4248G= (p.Leu1416=)
c.3789G= (p.Leu1263=)
c.2928G= (p.Leu976=)
n.4729G=
n.4733G=
1g.1049713G>TCA415758791AGRNc.4662G>T (p.Leu1554=)
c.4347G>T (p.Leu1449=)
c.4248G>T (p.Leu1416=)
c.3789G>T (p.Leu1263=)
c.2928G>T (p.Leu976=)
n.4729G>T
n.4733G>T
 gnomAD v4
1g.1049714C>ACA337778932AGRNc.4663C>A (p.Pro1555Thr)
c.4348C>A (p.Pro1450Thr)
c.4249C>A (p.Pro1417Thr)
c.3790C>A (p.Pro1264Thr)
c.2929C>A (p.Pro977Thr)
n.4730C>A
n.4734C>A
 gnomAD v4
1g.1049714C>GCA337778933AGRNc.4663C>G (p.Pro1555Ala)
c.4348C>G (p.Pro1450Ala)
c.4249C>G (p.Pro1417Ala)
c.3790C>G (p.Pro1264Ala)
c.2929C>G (p.Pro977Ala)
n.4730C>G
n.4734C>G
1g.1049714C>TCA337778934AGRNc.4663C>T (p.Pro1555Ser)
c.4348C>T (p.Pro1450Ser)
c.4249C>T (p.Pro1417Ser)
c.3790C>T (p.Pro1264Ser)
c.2929C>T (p.Pro977Ser)
n.4730C>T
n.4734C>T
 gnomAD v4
1g.1049716delCA2642496722AGRNc.4665del (p.Asn1556ThrfsTer?)
c.4350del (p.Asn1451ThrfsTer?)
c.4251del (p.Asn1418ThrfsTer?)
c.3792del (p.Asn1265ThrfsTer?)
c.2931del (p.Asn978ThrfsTer?)
n.4732del
n.4736del
 gnomAD v4
1g.1049715C>ACA337778935AGRNc.4664C>A (p.Pro1555His)
c.4349C>A (p.Pro1450His)
c.4250C>A (p.Pro1417His)
c.3791C>A (p.Pro1264His)
c.2930C>A (p.Pro977His)
n.4731C>A
n.4735C>A
1g.1049715C>GCA337778937AGRNc.4664C>G (p.Pro1555Arg)
c.4349C>G (p.Pro1450Arg)
c.4250C>G (p.Pro1417Arg)
c.3791C>G (p.Pro1264Arg)
c.2930C>G (p.Pro977Arg)
n.4731C>G
n.4735C>G
 gnomAD v4
1g.1049715C>TCA337778938AGRNc.4664C>T (p.Pro1555Leu)
c.4349C>T (p.Pro1450Leu)
c.4250C>T (p.Pro1417Leu)
c.3791C>T (p.Pro1264Leu)
c.2930C>T (p.Pro977Leu)
n.4731C>T
n.4735C>T
 gnomAD v4
1g.1049716C>ACA415758795AGRNc.4665C>A (p.Pro1555=)
c.4350C>A (p.Pro1450=)
c.4251C>A (p.Pro1417=)
c.3792C>A (p.Pro1264=)
c.2931C>A (p.Pro977=)
n.4732C>A
n.4736C>A
1g.1049716C>GCA415758794AGRNc.4665C>G (p.Pro1555=)
c.4350C>G (p.Pro1450=)
c.4251C>G (p.Pro1417=)
c.3792C>G (p.Pro1264=)
c.2931C>G (p.Pro977=)
n.4732C>G
n.4736C>G
1g.1049716C>TCA415758793AGRNc.4665C>T (p.Pro1555=)
c.4350C>T (p.Pro1450=)
c.4251C>T (p.Pro1417=)
c.3792C>T (p.Pro1264=)
c.2931C>T (p.Pro977=)
n.4732C>T
n.4736C>T
 ClinVar gnomAD v4
1g.1049717A>CCA337778947AGRNc.4666A>C (p.Asn1556His)
c.4351A>C (p.Asn1451His)
c.4252A>C (p.Asn1418His)
c.3793A>C (p.Asn1265His)
c.2932A>C (p.Asn978His)
n.4733A>C
n.4737A>C
1g.1049717A>GCA337778940AGRNc.4666A>G (p.Asn1556Asp)
c.4351A>G (p.Asn1451Asp)
c.4252A>G (p.Asn1418Asp)
c.3793A>G (p.Asn1265Asp)
c.2932A>G (p.Asn978Asp)
n.4733A>G
n.4737A>G
1g.1049717A>TCA337778942AGRNc.4666A>T (p.Asn1556Tyr)
c.4351A>T (p.Asn1451Tyr)
c.4252A>T (p.Asn1418Tyr)
c.3793A>T (p.Asn1265Tyr)
c.2932A>T (p.Asn978Tyr)
n.4733A>T
n.4737A>T
1g.1049718A=CA1148745426AGRNc.4667A= (p.Asn1556=)
c.4352A= (p.Asn1451=)
c.4253A= (p.Asn1418=)
c.3794A= (p.Asn1265=)
c.2933A= (p.Asn978=)
n.4734A=
n.4738A=
1g.1049718A>CCA337778950AGRNc.4667A>C (p.Asn1556Thr)
c.4352A>C (p.Asn1451Thr)
c.4253A>C (p.Asn1418Thr)
c.3794A>C (p.Asn1265Thr)
c.2933A>C (p.Asn978Thr)
n.4734A>C
n.4738A>C
 gnomAD v4
1g.1049718A>GCA16700693AGRNc.4667A>G (p.Asn1556Ser)
c.4352A>G (p.Asn1451Ser)
c.4253A>G (p.Asn1418Ser)
c.3794A>G (p.Asn1265Ser)
c.2933A>G (p.Asn978Ser)
n.4734A>G
n.4738A>G
 dbSNP gnomAD v4
1g.1049718A>TCA16700695AGRNc.4667A>T (p.Asn1556Ile)
c.4352A>T (p.Asn1451Ile)
c.4253A>T (p.Asn1418Ile)
c.3794A>T (p.Asn1265Ile)
c.2933A>T (p.Asn978Ile)
n.4734A>T
n.4738A>T
 dbSNP gnomAD v4
1g.1049719C>ACA337778958AGRNc.4668C>A (p.Asn1556Lys)
c.4353C>A (p.Asn1451Lys)
c.4254C>A (p.Asn1418Lys)
c.3795C>A (p.Asn1265Lys)
c.2934C>A (p.Asn978Lys)
n.4735C>A
n.4739C>A
 gnomAD v4
1g.1049719C=CA1148745430AGRNc.4668C= (p.Asn1556=)
c.4353C= (p.Asn1451=)
c.4254C= (p.Asn1418=)
c.3795C= (p.Asn1265=)
c.2934C= (p.Asn978=)
n.4735C=
n.4739C=
1g.1049719C>GCA337778960AGRNc.4668C>G (p.Asn1556Lys)
c.4353C>G (p.Asn1451Lys)
c.4254C>G (p.Asn1418Lys)
c.3795C>G (p.Asn1265Lys)
c.2934C>G (p.Asn978Lys)
n.4735C>G
n.4739C>G
1g.1049719C>TCA415758802AGRNc.4668C>T (p.Asn1556=)
c.4353C>T (p.Asn1451=)
c.4254C>T (p.Asn1418=)
c.3795C>T (p.Asn1265=)
c.2934C>T (p.Asn978=)
n.4735C>T
n.4739C>T
 dbSNP gnomAD v2 gnomAD v4
1g.1049720C>ACA337778962AGRNc.4669C>A (p.Pro1557Thr)
c.4354C>A (p.Pro1452Thr)
c.4255C>A (p.Pro1419Thr)
c.3796C>A (p.Pro1266Thr)
c.2935C>A (p.Pro979Thr)
n.4736C>A
n.4740C>A
 gnomAD v4
1g.1049720C=CA1148745447AGRNc.4669C= (p.Pro1557=)
c.4354C= (p.Pro1452=)
c.4255C= (p.Pro1419=)
c.3796C= (p.Pro1266=)
c.2935C= (p.Pro979=)
n.4736C=
n.4740C=
1g.1049720C>GCA337778964AGRNc.4669C>G (p.Pro1557Ala)
c.4354C>G (p.Pro1452Ala)
c.4255C>G (p.Pro1419Ala)
c.3796C>G (p.Pro1266Ala)
c.2935C>G (p.Pro979Ala)
n.4736C>G
n.4740C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1049720C>TCA337778966AGRNc.4669C>T (p.Pro1557Ser)
c.4354C>T (p.Pro1452Ser)
c.4255C>T (p.Pro1419Ser)
c.3796C>T (p.Pro1266Ser)
c.2935C>T (p.Pro979Ser)
n.4736C>T
n.4740C>T
 dbSNP gnomAD v3 gnomAD v4
1g.1049721C>ACA337778968AGRNc.4670C>A (p.Pro1557His)
c.4355C>A (p.Pro1452His)
c.4256C>A (p.Pro1419His)
c.3797C>A (p.Pro1266His)
c.2936C>A (p.Pro979His)
n.4737C>A
n.4741C>A
 gnomAD v4
1g.1049721C=CA1148745465AGRNc.4670C= (p.Pro1557=)
c.4355C= (p.Pro1452=)
c.4256C= (p.Pro1419=)
c.3797C= (p.Pro1266=)
c.2936C= (p.Pro979=)
n.4737C=
n.4741C=
1g.1049721C>GCA337778970AGRNc.4670C>G (p.Pro1557Arg)
c.4355C>G (p.Pro1452Arg)
c.4256C>G (p.Pro1419Arg)
c.3797C>G (p.Pro1266Arg)
c.2936C>G (p.Pro979Arg)
n.4737C>G
n.4741C>G
1g.1049721C>TCA337778971AGRNc.4670C>T (p.Pro1557Leu)
c.4355C>T (p.Pro1452Leu)
c.4256C>T (p.Pro1419Leu)
c.3797C>T (p.Pro1266Leu)
c.2936C>T (p.Pro979Leu)
n.4737C>T
n.4741C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1049722C>ACA415758804AGRNc.4671C>A (p.Pro1557=)
c.4356C>A (p.Pro1452=)
c.4257C>A (p.Pro1419=)
c.3798C>A (p.Pro1266=)
c.2937C>A (p.Pro979=)
n.4738C>A
n.4742C>A
 gnomAD v4
1g.1049722C>GCA415758806AGRNc.4671C>G (p.Pro1557=)
c.4356C>G (p.Pro1452=)
c.4257C>G (p.Pro1419=)
c.3798C>G (p.Pro1266=)
c.2937C>G (p.Pro979=)
n.4738C>G
n.4742C>G
1g.1049722C>TCA415758805AGRNc.4671C>T (p.Pro1557=)
c.4356C>T (p.Pro1452=)
c.4257C>T (p.Pro1419=)
c.3798C>T (p.Pro1266=)
c.2937C>T (p.Pro979=)
n.4738C>T
n.4742C>T
 COSMIC
1g.1049723T>ACA337778976AGRNc.4672T>A (p.Cys1558Ser)
c.4357T>A (p.Cys1453Ser)
c.4258T>A (p.Cys1420Ser)
c.3799T>A (p.Cys1267Ser)
c.2938T>A (p.Cys980Ser)
n.4739T>A
n.4743T>A
1g.1049723T>CCA337778977AGRNc.4672T>C (p.Cys1558Arg)
c.4357T>C (p.Cys1453Arg)
c.4258T>C (p.Cys1420Arg)
c.3799T>C (p.Cys1267Arg)
c.2938T>C (p.Cys980Arg)
n.4739T>C
n.4743T>C
 gnomAD v4
1g.1049723T>GCA337778974AGRNc.4672T>G (p.Cys1558Gly)
c.4357T>G (p.Cys1453Gly)
c.4258T>G (p.Cys1420Gly)
c.3799T>G (p.Cys1267Gly)
c.2938T>G (p.Cys980Gly)
n.4739T>G
n.4743T>G
1g.1049724G>ACA337778978AGRNc.4673G>A (p.Cys1558Tyr)
c.4358G>A (p.Cys1453Tyr)
c.4259G>A (p.Cys1420Tyr)
c.3800G>A (p.Cys1267Tyr)
c.2939G>A (p.Cys980Tyr)
n.4740G>A
n.4744G>A
 gnomAD v4
1g.1049724G>CCA337778980AGRNc.4673G>C (p.Cys1558Ser)
c.4358G>C (p.Cys1453Ser)
c.4259G>C (p.Cys1420Ser)
c.3800G>C (p.Cys1267Ser)
c.2939G>C (p.Cys980Ser)
n.4740G>C
n.4744G>C
1g.1049724G>TCA337778982AGRNc.4673G>T (p.Cys1558Phe)
c.4358G>T (p.Cys1453Phe)
c.4259G>T (p.Cys1420Phe)
c.3800G>T (p.Cys1267Phe)
c.2939G>T (p.Cys980Phe)
n.4740G>T
n.4744G>T
 gnomAD v4
1g.1049725C>ACA337778984AGRNc.4674C>A (p.Cys1558Ter)
c.4359C>A (p.Cys1453Ter)
c.4260C>A (p.Cys1420Ter)
c.3801C>A (p.Cys1267Ter)
c.2940C>A (p.Cys980Ter)
n.4741C>A
n.4745C>A
 gnomAD v4
1g.1049725C=CA1148745472AGRNc.4674C= (p.Cys1558=)
c.4359C= (p.Cys1453=)
c.4260C= (p.Cys1420=)
c.3801C= (p.Cys1267=)
c.2940C= (p.Cys980=)
n.4741C=
n.4745C=
1g.1049725C>GCA337778986AGRNc.4674C>G (p.Cys1558Trp)
c.4359C>G (p.Cys1453Trp)
c.4260C>G (p.Cys1420Trp)
c.3801C>G (p.Cys1267Trp)
c.2940C>G (p.Cys980Trp)
n.4741C>G
n.4745C>G
1g.1049725C>TCA415758809AGRNc.4674C>T (p.Cys1558=)
c.4359C>T (p.Cys1453=)
c.4260C>T (p.Cys1420=)
c.3801C>T (p.Cys1267=)
c.2940C>T (p.Cys980=)
n.4741C>T
n.4745C>T
 dbSNP gnomAD v2 gnomAD v4
1g.1049726C>ACA337778988AGRNc.4675C>A (p.His1559Asn)
c.4360C>A (p.His1454Asn)
c.4261C>A (p.His1421Asn)
c.3802C>A (p.His1268Asn)
c.2941C>A (p.His981Asn)
n.4742C>A
n.4746C>A
 gnomAD v4
1g.1049726C>GCA337778990AGRNc.4675C>G (p.His1559Asp)
c.4360C>G (p.His1454Asp)
c.4261C>G (p.His1421Asp)
c.3802C>G (p.His1268Asp)
c.2941C>G (p.His981Asp)
n.4742C>G
n.4746C>G
1g.1049726C>TCA337779006AGRNc.4675C>T (p.His1559Tyr)
c.4360C>T (p.His1454Tyr)
c.4261C>T (p.His1421Tyr)
c.3802C>T (p.His1268Tyr)
c.2941C>T (p.His981Tyr)
n.4742C>T
n.4746C>T
 gnomAD v4
1g.1049727A=CA1148745496AGRNc.4676A= (p.His1559=)
c.4361A= (p.His1454=)
c.4262A= (p.His1421=)
c.3803A= (p.His1268=)
c.2942A= (p.His981=)
n.4743A=
n.4747A=
1g.1049727A>CCA337779008AGRNc.4676A>C (p.His1559Pro)
c.4361A>C (p.His1454Pro)
c.4262A>C (p.His1421Pro)
c.3803A>C (p.His1268Pro)
c.2942A>C (p.His981Pro)
n.4743A>C
n.4747A>C
1g.1049727A>GCA337779010AGRNc.4676A>G (p.His1559Arg)
c.4361A>G (p.His1454Arg)
c.4262A>G (p.His1421Arg)
c.3803A>G (p.His1268Arg)
c.2942A>G (p.His981Arg)
n.4743A>G
n.4747A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1049727A>TCA337779012AGRNc.4676A>T (p.His1559Leu)
c.4361A>T (p.His1454Leu)
c.4262A>T (p.His1421Leu)
c.3803A>T (p.His1268Leu)
c.2942A>T (p.His981Leu)
n.4743A>T
n.4747A>T
1g.1049728T>ACA337779013AGRNc.4677T>A (p.His1559Gln)
c.4362T>A (p.His1454Gln)
c.4263T>A (p.His1421Gln)
c.3804T>A (p.His1268Gln)
c.2943T>A (p.His981Gln)
n.4744T>A
n.4748T>A
1g.1049728T>CCA415758814AGRNc.4677T>C (p.His1559=)
c.4362T>C (p.His1454=)
c.4263T>C (p.His1421=)
c.3804T>C (p.His1268=)
c.2943T>C (p.His981=)
n.4744T>C
n.4748T>C
 gnomAD v4
1g.1049728T>GCA337779015AGRNc.4677T>G (p.His1559Gln)
c.4362T>G (p.His1454Gln)
c.4263T>G (p.His1421Gln)
c.3804T>G (p.His1268Gln)
c.2943T>G (p.His981Gln)
n.4744T>G
n.4748T>G
1g.1049729G>ACA337779020AGRNc.4678G>A (p.Gly1560Ser)
c.4363G>A (p.Gly1455Ser)
c.4264G>A (p.Gly1422Ser)
c.3805G>A (p.Gly1269Ser)
c.2944G>A (p.Gly982Ser)
n.4745G>A
n.4749G>A
1g.1049729G>CCA337779018AGRNc.4678G>C (p.Gly1560Arg)
c.4363G>C (p.Gly1455Arg)
c.4264G>C (p.Gly1422Arg)
c.3805G>C (p.Gly1269Arg)
c.2944G>C (p.Gly982Arg)
n.4745G>C
n.4749G>C
1g.1049729G>TCA337779016AGRNc.4678G>T (p.Gly1560Cys)
c.4363G>T (p.Gly1455Cys)
c.4264G>T (p.Gly1422Cys)
c.3805G>T (p.Gly1269Cys)
c.2944G>T (p.Gly982Cys)
n.4745G>T
n.4749G>T
 gnomAD v4
1g.1049729_1049730dupCA997657328AGRNc.4678_4679dup (p.Gly1561AlafsTer?)
c.4363_4364dup (p.Gly1456AlafsTer?)
c.4264_4265dup (p.Gly1423AlafsTer?)
c.3805_3806dup (p.Gly1270AlafsTer?)
c.2944_2945dup (p.Gly983AlafsTer?)
n.4745_4746dup
n.4749_4750dup
 gnomAD v3 gnomAD v4
1g.1049730G>ACA337779022AGRNc.4679G>A (p.Gly1560Asp)
c.4364G>A (p.Gly1455Asp)
c.4265G>A (p.Gly1422Asp)
c.3806G>A (p.Gly1269Asp)
c.2945G>A (p.Gly982Asp)
n.4746G>A
n.4750G>A
 gnomAD v4
1g.1049730G>CCA337779024AGRNc.4679G>C (p.Gly1560Ala)
c.4364G>C (p.Gly1455Ala)
c.4265G>C (p.Gly1422Ala)
c.3806G>C (p.Gly1269Ala)
c.2945G>C (p.Gly982Ala)
n.4746G>C
n.4750G>C
1g.1049730G>TCA337779026AGRNc.4679G>T (p.Gly1560Val)
c.4364G>T (p.Gly1455Val)
c.4265G>T (p.Gly1422Val)
c.3806G>T (p.Gly1269Val)
c.2945G>T (p.Gly982Val)
n.4746G>T
n.4750G>T
 gnomAD v4
1g.1049731C>ACA415758823AGRNc.4680C>A (p.Gly1560=)
c.4365C>A (p.Gly1455=)
c.4266C>A (p.Gly1422=)
c.3807C>A (p.Gly1269=)
c.2946C>A (p.Gly982=)
n.4747C>A
n.4751C>A
 gnomAD v4
1g.1049731C=CA1148745512AGRNc.4680C= (p.Gly1560=)
c.4365C= (p.Gly1455=)
c.4266C= (p.Gly1422=)
c.3807C= (p.Gly1269=)
c.2946C= (p.Gly982=)
n.4747C=
n.4751C=
1g.1049731C>GCA509568AGRNc.4680C>G (p.Gly1560=)
c.4365C>G (p.Gly1455=)
c.4266C>G (p.Gly1422=)
c.3807C>G (p.Gly1269=)
c.2946C>G (p.Gly982=)
n.4747C>G
n.4751C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049731C>TCA509569AGRNc.4680C>T (p.Gly1560=)
c.4365C>T (p.Gly1455=)
c.4266C>T (p.Gly1422=)
c.3807C>T (p.Gly1269=)
c.2946C>T (p.Gly982=)
n.4747C>T
n.4751C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1049732G>ACA509570AGRNc.4681G>A (p.Gly1561Arg)
c.4366G>A (p.Gly1456Arg)
c.4267G>A (p.Gly1423Arg)
c.3808G>A (p.Gly1270Arg)
c.2947G>A (p.Gly983Arg)
n.4748G>A
n.4752G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049732G>CCA337779032AGRNc.4681G>C (p.Gly1561Arg)
c.4366G>C (p.Gly1456Arg)
c.4267G>C (p.Gly1423Arg)
c.3808G>C (p.Gly1270Arg)
c.2947G>C (p.Gly983Arg)
n.4748G>C
n.4752G>C
1g.1049732G=CA1148745528AGRNc.4681G= (p.Gly1561=)
c.4366G= (p.Gly1456=)
c.4267G= (p.Gly1423=)
c.3808G= (p.Gly1270=)
c.2947G= (p.Gly983=)
n.4748G=
n.4752G=
1g.1049732G>TCA337779034AGRNc.4681G>T (p.Gly1561Trp)
c.4366G>T (p.Gly1456Trp)
c.4267G>T (p.Gly1423Trp)
c.3808G>T (p.Gly1270Trp)
c.2947G>T (p.Gly983Trp)
n.4748G>T
n.4752G>T
 gnomAD v4
1g.1049735delCA2642496864AGRNc.4684del (p.Ala1562ProfsTer?)
c.4369del (p.Ala1457ProfsTer?)
c.4270del (p.Ala1424ProfsTer?)
c.3811del (p.Ala1271ProfsTer?)
c.2950del (p.Ala984ProfsTer?)
n.4751del
n.4755del
 gnomAD v4
1g.1049733G>ACA337779036AGRNc.4682G>A (p.Gly1561Glu)
c.4367G>A (p.Gly1456Glu)
c.4268G>A (p.Gly1423Glu)
c.3809G>A (p.Gly1270Glu)
c.2948G>A (p.Gly983Glu)
n.4749G>A
n.4753G>A
 dbSNP gnomAD v3 gnomAD v4
1g.1049733G>CCA337779038AGRNc.4682G>C (p.Gly1561Ala)
c.4367G>C (p.Gly1456Ala)
c.4268G>C (p.Gly1423Ala)
c.3809G>C (p.Gly1270Ala)
c.2948G>C (p.Gly983Ala)
n.4749G>C
n.4753G>C
 dbSNP gnomAD v3 gnomAD v4
1g.1049733G=CA1148745550AGRNc.4682G= (p.Gly1561=)
c.4367G= (p.Gly1456=)
c.4268G= (p.Gly1423=)
c.3809G= (p.Gly1270=)
c.2948G= (p.Gly983=)
n.4749G=
n.4753G=
1g.1049733G>TCA337779040AGRNc.4682G>T (p.Gly1561Val)
c.4367G>T (p.Gly1456Val)
c.4268G>T (p.Gly1423Val)
c.3809G>T (p.Gly1270Val)
c.2948G>T (p.Gly983Val)
n.4749G>T
n.4753G>T
 gnomAD v4
1g.1049734G>ACA509571AGRNc.4683G>A (p.Gly1561=)
c.4368G>A (p.Gly1456=)
c.4269G>A (p.Gly1423=)
c.3810G>A (p.Gly1270=)
c.2949G>A (p.Gly983=)
n.4750G>A
n.4754G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.1049734G>CCA415758825AGRNc.4683G>C (p.Gly1561=)
c.4368G>C (p.Gly1456=)
c.4269G>C (p.Gly1423=)
c.3810G>C (p.Gly1270=)
c.2949G>C (p.Gly983=)
n.4750G>C
n.4754G>C
 gnomAD v3 gnomAD v4
1g.1049734G=CA1148745563AGRNc.4683G= (p.Gly1561=)
c.4368G= (p.Gly1456=)
c.4269G= (p.Gly1423=)
c.3810G= (p.Gly1270=)
c.2949G= (p.Gly983=)
n.4750G=
n.4754G=
1g.1049734G>TCA415758827AGRNc.4683G>T (p.Gly1561=)
c.4368G>T (p.Gly1456=)
c.4269G>T (p.Gly1423=)
c.3810G>T (p.Gly1270=)
c.2949G>T (p.Gly983=)
n.4750G>T
n.4754G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1049735G>ACA337779053AGRNc.4684G>A (p.Ala1562Thr)
c.4369G>A (p.Ala1457Thr)
c.4270G>A (p.Ala1424Thr)
c.3811G>A (p.Ala1271Thr)
c.2950G>A (p.Ala984Thr)
n.4751G>A
n.4755G>A
 dbSNP gnomAD v2 gnomAD v4
1g.1049735G>CCA337779052AGRNc.4684G>C (p.Ala1562Pro)
c.4369G>C (p.Ala1457Pro)
c.4270G>C (p.Ala1424Pro)
c.3811G>C (p.Ala1271Pro)
c.2950G>C (p.Ala984Pro)
n.4751G>C
n.4755G>C
1g.1049735G=CA1148745575AGRNc.4684G= (p.Ala1562=)
c.4369G= (p.Ala1457=)
c.4270G= (p.Ala1424=)
c.3811G= (p.Ala1271=)
c.2950G= (p.Ala984=)
n.4751G=
n.4755G=
1g.1049735G>TCA337779044AGRNc.4684G>T (p.Ala1562Ser)
c.4369G>T (p.Ala1457Ser)
c.4270G>T (p.Ala1424Ser)
c.3811G>T (p.Ala1271Ser)
c.2950G>T (p.Ala984Ser)
n.4751G>T
n.4755G>T
 gnomAD v4
1g.1049736C>ACA337779056AGRNc.4685C>A (p.Ala1562Asp)
c.4370C>A (p.Ala1457Asp)
c.4271C>A (p.Ala1424Asp)
c.3812C>A (p.Ala1271Asp)
c.2951C>A (p.Ala984Asp)
n.4752C>A
n.4756C>A
 gnomAD v4
1g.1049736C>GCA337779058AGRNc.4685C>G (p.Ala1562Gly)
c.4370C>G (p.Ala1457Gly)
c.4271C>G (p.Ala1424Gly)
c.3812C>G (p.Ala1271Gly)
c.2951C>G (p.Ala984Gly)
n.4752C>G
n.4756C>G
 gnomAD v4
1g.1049736C>TCA337779057AGRNc.4685C>T (p.Ala1562Val)
c.4370C>T (p.Ala1457Val)
c.4271C>T (p.Ala1424Val)
c.3812C>T (p.Ala1271Val)
c.2951C>T (p.Ala984Val)
n.4752C>T
n.4756C>T
 gnomAD v4
1g.1049739delCA2642496888AGRNc.4688del (p.Pro1563HisfsTer?)
c.4373del (p.Pro1458HisfsTer?)
c.4274del (p.Pro1425HisfsTer?)
c.3815del (p.Pro1272HisfsTer?)
c.2954del (p.Pro985HisfsTer?)
n.4755del
n.4759del
 gnomAD v4
1g.1049737C>ACA415758831AGRNc.4686C>A (p.Ala1562=)
c.4371C>A (p.Ala1457=)
c.4272C>A (p.Ala1424=)
c.3813C>A (p.Ala1271=)
c.2952C>A (p.Ala984=)
n.4753C>A
n.4757C>A
 gnomAD v4
1g.1049737C>GCA415758830AGRNc.4686C>G (p.Ala1562=)
c.4371C>G (p.Ala1457=)
c.4272C>G (p.Ala1424=)
c.3813C>G (p.Ala1271=)
c.2952C>G (p.Ala984=)
n.4753C>G
n.4757C>G
1g.1049737C>TCA415758832AGRNc.4686C>T (p.Ala1562=)
c.4371C>T (p.Ala1457=)
c.4272C>T (p.Ala1424=)
c.3813C>T (p.Ala1271=)
c.2952C>T (p.Ala984=)
n.4753C>T
n.4757C>T
 gnomAD v4
1g.1049738C>ACA337779061AGRNc.4687C>A (p.Pro1563Thr)
c.4372C>A (p.Pro1458Thr)
c.4273C>A (p.Pro1425Thr)
c.3814C>A (p.Pro1272Thr)
c.2953C>A (p.Pro985Thr)
n.4754C>A
n.4758C>A
 dbSNP gnomAD v4
1g.1049738C=CA1148745607AGRNc.4687C= (p.Pro1563=)
c.4372C= (p.Pro1458=)
c.4273C= (p.Pro1425=)
c.3814C= (p.Pro1272=)
c.2953C= (p.Pro985=)
n.4754C=
n.4758C=
1g.1049738C>GCA337779065AGRNc.4687C>G (p.Pro1563Ala)
c.4372C>G (p.Pro1458Ala)
c.4273C>G (p.Pro1425Ala)
c.3814C>G (p.Pro1272Ala)
c.2953C>G (p.Pro985Ala)
n.4754C>G
n.4758C>G
1g.1049738C>TCA337779063AGRNc.4687C>T (p.Pro1563Ser)
c.4372C>T (p.Pro1458Ser)
c.4273C>T (p.Pro1425Ser)
c.3814C>T (p.Pro1272Ser)
c.2953C>T (p.Pro985Ser)
n.4754C>T
n.4758C>T
 gnomAD v4
1g.1049739C>ACA337779066AGRNc.4688C>A (p.Pro1563Gln)
c.4373C>A (p.Pro1458Gln)
c.4274C>A (p.Pro1425Gln)
c.3815C>A (p.Pro1272Gln)
c.2954C>A (p.Pro985Gln)
n.4755C>A
n.4759C>A
 gnomAD v4
1g.1049739C=CA1148745614AGRNc.4688C= (p.Pro1563=)
c.4373C= (p.Pro1458=)
c.4274C= (p.Pro1425=)
c.3815C= (p.Pro1272=)
c.2954C= (p.Pro985=)
n.4755C=
n.4759C=
1g.1049739C>GCA337779067AGRNc.4688C>G (p.Pro1563Arg)
c.4373C>G (p.Pro1458Arg)
c.4274C>G (p.Pro1425Arg)
c.3815C>G (p.Pro1272Arg)
c.2954C>G (p.Pro985Arg)
n.4755C>G
n.4759C>G
 dbSNP gnomAD v4
1g.1049739C>TCA337779069AGRNc.4688C>T (p.Pro1563Leu)
c.4373C>T (p.Pro1458Leu)
c.4274C>T (p.Pro1425Leu)
c.3815C>T (p.Pro1272Leu)
c.2954C>T (p.Pro985Leu)
n.4755C>T
n.4759C>T
 dbSNP gnomAD v3 gnomAD v4
1g.1049739_1049740delCA997657366AGRNc.4688_4689del (p.Pro1563LeufsTer25)
c.4373_4374del (p.Pro1458LeufsTer25)
c.4274_4275del (p.Pro1425LeufsTer25)
c.3815_3816del (p.Pro1272LeufsTer25)
c.2954_2955del (p.Pro985LeufsTer25)
n.4755_4756del
n.4759_4760del
 gnomAD v3 gnomAD v4
1g.1049740A>CCA415758834AGRNc.4689A>C (p.Pro1563=)
c.4374A>C (p.Pro1458=)
c.4275A>C (p.Pro1425=)
c.3816A>C (p.Pro1272=)
c.2955A>C (p.Pro985=)
n.4756A>C
n.4760A>C
 gnomAD v4
1g.1049740A>GCA415758836AGRNc.4689A>G (p.Pro1563=)
c.4374A>G (p.Pro1458=)
c.4275A>G (p.Pro1425=)
c.3816A>G (p.Pro1272=)
c.2955A>G (p.Pro985=)
n.4756A>G
n.4760A>G
1g.1049740A>TCA415758837AGRNc.4689A>T (p.Pro1563=)
c.4374A>T (p.Pro1458=)
c.4275A>T (p.Pro1425=)
c.3816A>T (p.Pro1272=)
c.2955A>T (p.Pro985=)
n.4756A>T
n.4760A>T
1g.1049741T>ACA337779071AGRNc.4690T>A (p.Cys1564Ser)
c.4375T>A (p.Cys1459Ser)
c.4276T>A (p.Cys1426Ser)
c.3817T>A (p.Cys1273Ser)
c.2956T>A (p.Cys986Ser)
n.4757T>A
n.4761T>A
1g.1049741T>CCA337779073AGRNc.4690T>C (p.Cys1564Arg)
c.4375T>C (p.Cys1459Arg)
c.4276T>C (p.Cys1426Arg)
c.3817T>C (p.Cys1273Arg)
c.2956T>C (p.Cys986Arg)
n.4757T>C
n.4761T>C
1g.1049741T>GCA337779074AGRNc.4690T>G (p.Cys1564Gly)
c.4375T>G (p.Cys1459Gly)
c.4276T>G (p.Cys1426Gly)
c.3817T>G (p.Cys1273Gly)
c.2956T>G (p.Cys986Gly)
n.4757T>G
n.4761T>G
1g.1049742G>ACA337779076AGRNc.4691G>A (p.Cys1564Tyr)
c.4376G>A (p.Cys1459Tyr)
c.4277G>A (p.Cys1426Tyr)
c.3818G>A (p.Cys1273Tyr)
c.2957G>A (p.Cys986Tyr)
n.4758G>A
n.4762G>A
 gnomAD v4
1g.1049742G>CCA337779079AGRNc.4691G>C (p.Cys1564Ser)
c.4376G>C (p.Cys1459Ser)
c.4277G>C (p.Cys1426Ser)
c.3818G>C (p.Cys1273Ser)
c.2957G>C (p.Cys986Ser)
n.4758G>C
n.4762G>C
1g.1049742G>TCA337779081AGRNc.4691G>T (p.Cys1564Phe)
c.4376G>T (p.Cys1459Phe)
c.4277G>T (p.Cys1426Phe)
c.3818G>T (p.Cys1273Phe)
c.2957G>T (p.Cys986Phe)
n.4758G>T
n.4762G>T
 gnomAD v4
1g.1049743C>ACA337779083AGRNc.4692C>A (p.Cys1564Ter)
c.4377C>A (p.Cys1459Ter)
c.4278C>A (p.Cys1426Ter)
c.3819C>A (p.Cys1273Ter)
c.2958C>A (p.Cys986Ter)
n.4759C>A
n.4763C>A
 gnomAD v4
1g.1049743C>GCA337779084AGRNc.4692C>G (p.Cys1564Trp)
c.4377C>G (p.Cys1459Trp)
c.4278C>G (p.Cys1426Trp)
c.3819C>G (p.Cys1273Trp)
c.2958C>G (p.Cys986Trp)
n.4759C>G
n.4763C>G
1g.1049743C>TCA415758840AGRNc.4692C>T (p.Cys1564=)
c.4377C>T (p.Cys1459=)
c.4278C>T (p.Cys1426=)
c.3819C>T (p.Cys1273=)
c.2958C>T (p.Cys986=)
n.4759C>T
n.4763C>T
 gnomAD v4
1g.1049744C>ACA337779088AGRNc.4693C>A (p.Gln1565Lys)
c.4378C>A (p.Gln1460Lys)
c.4279C>A (p.Gln1427Lys)
c.3820C>A (p.Gln1274Lys)
c.2959C>A (p.Gln987Lys)
n.4760C>A
n.4764C>A
 gnomAD v4
1g.1049744C>GCA337779086AGRNc.4693C>G (p.Gln1565Glu)
c.4378C>G (p.Gln1460Glu)
c.4279C>G (p.Gln1427Glu)
c.3820C>G (p.Gln1274Glu)
c.2959C>G (p.Gln987Glu)
n.4760C>G
n.4764C>G
1g.1049744C>TCA337779087AGRNc.4693C>T (p.Gln1565Ter)
c.4378C>T (p.Gln1460Ter)
c.4279C>T (p.Gln1427Ter)
c.3820C>T (p.Gln1274Ter)
c.2959C>T (p.Gln987Ter)
n.4760C>T
n.4764C>T
 gnomAD v4
1g.1049744_1049745insGTGTGCTGCCCGAGGGTGGTGCCA997657370AGRNc.4693_4694insGTGTGCTGCCCGAGGGTGGTGC (p.Gln1565ArgfsTer31)
c.4378_4379insGTGTGCTGCCCGAGGGTGGTGC (p.Gln1460ArgfsTer31)
c.4279_4280insGTGTGCTGCCCGAGGGTGGTGC (p.Gln1427ArgfsTer31)
c.3820_3821insGTGTGCTGCCCGAGGGTGGTGC (p.Gln1274ArgfsTer31)
c.2959_2960insGTGTGCTGCCCGAGGGTGGTGC (p.Gln987ArgfsTer31)
n.4760_4761insGTGTGCTGCCCGAGGGTGGTGC
n.4764_4765insGTGTGCTGCCCGAGGGTGGTGC
 gnomAD v3 gnomAD v4
1g.1049744_1049747delCA2742134928AGRNc.4693_4696del (p.Gln1565ThrfsTer?)
c.4378_4381del (p.Gln1460ThrfsTer?)
c.4279_4282del (p.Gln1427ThrfsTer?)
c.3820_3823del (p.Gln1274ThrfsTer?)
c.2959_2962del (p.Gln987ThrfsTer?)
n.4760_4763del
n.4764_4767del
1g.1049745A=CA1143507281AGRNc.4694A= (p.Gln1565=)
c.4379A= (p.Gln1460=)
c.4280A= (p.Gln1427=)
c.3821A= (p.Gln1274=)
c.2960A= (p.Gln987=)
n.4761A=
n.4765A=
1g.1049745A>CCA337779089AGRNc.4694A>C (p.Gln1565Pro)
c.4379A>C (p.Gln1460Pro)
c.4280A>C (p.Gln1427Pro)
c.3821A>C (p.Gln1274Pro)
c.2960A>C (p.Gln987Pro)
n.4761A>C
n.4765A>C
1g.1049745A>GCA509572AGRNc.4694A>G (p.Gln1565Arg)
c.4379A>G (p.Gln1460Arg)
c.4280A>G (p.Gln1427Arg)
c.3821A>G (p.Gln1274Arg)
c.2960A>G (p.Gln987Arg)
n.4761A>G
n.4765A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049745A>TCA337779092AGRNc.4694A>T (p.Gln1565Leu)
c.4379A>T (p.Gln1460Leu)
c.4280A>T (p.Gln1427Leu)
c.3821A>T (p.Gln1274Leu)
c.2960A>T (p.Gln987Leu)
n.4761A>T
n.4765A>T
1g.1049746G>ACA415758844AGRNc.4695G>A (p.Gln1565=)
c.4380G>A (p.Gln1460=)
c.4281G>A (p.Gln1427=)
c.3822G>A (p.Gln1274=)
c.2961G>A (p.Gln987=)
n.4762G>A
n.4766G>A
 dbSNP gnomAD v4
1g.1049746G>CCA509573AGRNc.4695G>C (p.Gln1565His)
c.4380G>C (p.Gln1460His)
c.4281G>C (p.Gln1427His)
c.3822G>C (p.Gln1274His)
c.2961G>C (p.Gln987His)
n.4762G>C
n.4766G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049746G=CA1143379626AGRNc.4695G= (p.Gln1565=)
c.4380G= (p.Gln1460=)
c.4281G= (p.Gln1427=)
c.3822G= (p.Gln1274=)
c.2961G= (p.Gln987=)
n.4762G=
n.4766G=
1g.1049746G>TCA337779095AGRNc.4695G>T (p.Gln1565His)
c.4380G>T (p.Gln1460His)
c.4281G>T (p.Gln1427His)
c.3822G>T (p.Gln1274His)
c.2961G>T (p.Gln987His)
n.4762G>T
n.4766G>T
1g.1049747A>CCA337779097AGRNc.4696A>C (p.Asn1566His)
c.4381A>C (p.Asn1461His)
c.4282A>C (p.Asn1428His)
c.3823A>C (p.Asn1275His)
c.2962A>C (p.Asn988His)
n.4763A>C
n.4767A>C
1g.1049747A>GCA337779098AGRNc.4696A>G (p.Asn1566Asp)
c.4381A>G (p.Asn1461Asp)
c.4282A>G (p.Asn1428Asp)
c.3823A>G (p.Asn1275Asp)
c.2962A>G (p.Asn988Asp)
n.4763A>G
n.4767A>G
1g.1049747A>TCA337779099AGRNc.4696A>T (p.Asn1566Tyr)
c.4381A>T (p.Asn1461Tyr)
c.4282A>T (p.Asn1428Tyr)
c.3823A>T (p.Asn1275Tyr)
c.2962A>T (p.Asn988Tyr)
n.4763A>T
n.4767A>T
1g.1049748A>CCA337779101AGRNc.4697A>C (p.Asn1566Thr)
c.4382A>C (p.Asn1461Thr)
c.4283A>C (p.Asn1428Thr)
c.3824A>C (p.Asn1275Thr)
c.2963A>C (p.Asn988Thr)
n.4764A>C
n.4768A>C
1g.1049748A>GCA337779102AGRNc.4697A>G (p.Asn1566Ser)
c.4382A>G (p.Asn1461Ser)
c.4283A>G (p.Asn1428Ser)
c.3824A>G (p.Asn1275Ser)
c.2963A>G (p.Asn988Ser)
n.4764A>G
n.4768A>G
1g.1049748A>TCA337779103AGRNc.4697A>T (p.Asn1566Ile)
c.4382A>T (p.Asn1461Ile)
c.4283A>T (p.Asn1428Ile)
c.3824A>T (p.Asn1275Ile)
c.2963A>T (p.Asn988Ile)
n.4764A>T
n.4768A>T
1g.1049749C>ACA337779104AGRNc.4698C>A (p.Asn1566Lys)
c.4383C>A (p.Asn1461Lys)
c.4284C>A (p.Asn1428Lys)
c.3825C>A (p.Asn1275Lys)
c.2964C>A (p.Asn988Lys)
n.4765C>A
n.4769C>A
 gnomAD v4
1g.1049749C=CA1148745663AGRNc.4698C= (p.Asn1566=)
c.4383C= (p.Asn1461=)
c.4284C= (p.Asn1428=)
c.3825C= (p.Asn1275=)
c.2964C= (p.Asn988=)
n.4765C=
n.4769C=
1g.1049749C>GCA337779105AGRNc.4698C>G (p.Asn1566Lys)
c.4383C>G (p.Asn1461Lys)
c.4284C>G (p.Asn1428Lys)
c.3825C>G (p.Asn1275Lys)
c.2964C>G (p.Asn988Lys)
n.4765C>G
n.4769C>G
1g.1049749C>TCA415758848AGRNc.4698C>T (p.Asn1566=)
c.4383C>T (p.Asn1461=)
c.4284C>T (p.Asn1428=)
c.3825C>T (p.Asn1275=)
c.2964C>T (p.Asn988=)
n.4765C>T
n.4769C>T
 dbSNP gnomAD v3 gnomAD v4
1g.1049750C>ACA337779107AGRNc.4699C>A (p.Leu1567Met)
c.4384C>A (p.Leu1462Met)
c.4285C>A (p.Leu1429Met)
c.3826C>A (p.Leu1276Met)
c.2965C>A (p.Leu989Met)
n.4766C>A
n.4770C>A
 gnomAD v4
1g.1049750C>GCA337779108AGRNc.4699C>G (p.Leu1567Val)
c.4384C>G (p.Leu1462Val)
c.4285C>G (p.Leu1429Val)
c.3826C>G (p.Leu1276Val)
c.2965C>G (p.Leu989Val)
n.4766C>G
n.4770C>G
1g.1049750C>TCA415758851AGRNc.4699C>T (p.Leu1567=)
c.4384C>T (p.Leu1462=)
c.4285C>T (p.Leu1429=)
c.3826C>T (p.Leu1276=)
c.2965C>T (p.Leu989=)
n.4766C>T
n.4770C>T
 gnomAD v4
1g.1049751T>ACA337779110AGRNc.4700T>A (p.Leu1567Gln)
c.4385T>A (p.Leu1462Gln)
c.4286T>A (p.Leu1429Gln)
c.3827T>A (p.Leu1276Gln)
c.2966T>A (p.Leu989Gln)
n.4767T>A
n.4771T>A
1g.1049751T>CCA337779111AGRNc.4700T>C (p.Leu1567Pro)
c.4385T>C (p.Leu1462Pro)
c.4286T>C (p.Leu1429Pro)
c.3827T>C (p.Leu1276Pro)
c.2966T>C (p.Leu989Pro)
n.4767T>C
n.4771T>C
 gnomAD v4
1g.1049751T>GCA337779120AGRNc.4700T>G (p.Leu1567Arg)
c.4385T>G (p.Leu1462Arg)
c.4286T>G (p.Leu1429Arg)
c.3827T>G (p.Leu1276Arg)
c.2966T>G (p.Leu989Arg)
n.4767T>G
n.4771T>G
1g.1049752G>ACA415758853AGRNc.4701G>A (p.Leu1567=)
c.4386G>A (p.Leu1462=)
c.4287G>A (p.Leu1429=)
c.3828G>A (p.Leu1276=)
c.2967G>A (p.Leu989=)
n.4768G>A
n.4772G>A
 dbSNP
1g.1049752G>CCA415758854AGRNc.4701G>C (p.Leu1567=)
c.4386G>C (p.Leu1462=)
c.4287G>C (p.Leu1429=)
c.3828G>C (p.Leu1276=)
c.2967G>C (p.Leu989=)
n.4768G>C
n.4772G>C
1g.1049752G=CA1148745676AGRNc.4701G= (p.Leu1567=)
c.4386G= (p.Leu1462=)
c.4287G= (p.Leu1429=)
c.3828G= (p.Leu1276=)
c.2967G= (p.Leu989=)
n.4768G=
n.4772G=
1g.1049752G>TCA415758855AGRNc.4701G>T (p.Leu1567=)
c.4386G>T (p.Leu1462=)
c.4287G>T (p.Leu1429=)
c.3828G>T (p.Leu1276=)
c.2967G>T (p.Leu989=)
n.4768G>T
n.4772G>T
 gnomAD v4
1g.1049753delCA2742134929AGRNc.4702del (p.Glu1568ArgfsTer?)
c.4387del (p.Glu1463ArgfsTer?)
c.4288del (p.Glu1430ArgfsTer?)
c.3829del (p.Glu1277ArgfsTer?)
c.2968del (p.Glu990ArgfsTer?)
n.4769del
n.4773del
1g.1049753G>ACA337779123AGRNc.4702G>A (p.Glu1568Lys)
c.4387G>A (p.Glu1463Lys)
c.4288G>A (p.Glu1430Lys)
c.3829G>A (p.Glu1277Lys)
c.2968G>A (p.Glu990Lys)
n.4769G>A
n.4773G>A
 dbSNP gnomAD v4
1g.1049753G>CCA337779125AGRNc.4702G>C (p.Glu1568Gln)
c.4387G>C (p.Glu1463Gln)
c.4288G>C (p.Glu1430Gln)
c.3829G>C (p.Glu1277Gln)
c.2968G>C (p.Glu990Gln)
n.4769G>C
n.4773G>C
1g.1049753G=CA1148745686AGRNc.4702G= (p.Glu1568=)
c.4387G= (p.Glu1463=)
c.4288G= (p.Glu1430=)
c.3829G= (p.Glu1277=)
c.2968G= (p.Glu990=)
n.4769G=
n.4773G=
1g.1049753G>TCA337779126AGRNc.4702G>T (p.Glu1568Ter)
c.4387G>T (p.Glu1463Ter)
c.4288G>T (p.Glu1430Ter)
c.3829G>T (p.Glu1277Ter)
c.2968G>T (p.Glu990Ter)
n.4769G>T
n.4773G>T
 gnomAD v4
1g.1049754A>CCA337779128AGRNc.4703A>C (p.Glu1568Ala)
c.4388A>C (p.Glu1463Ala)
c.4289A>C (p.Glu1430Ala)
c.3830A>C (p.Glu1277Ala)
c.2969A>C (p.Glu990Ala)
n.4770A>C
n.4774A>C
1g.1049754A>GCA337779130AGRNc.4703A>G (p.Glu1568Gly)
c.4388A>G (p.Glu1463Gly)
c.4289A>G (p.Glu1430Gly)
c.3830A>G (p.Glu1277Gly)
c.2969A>G (p.Glu990Gly)
n.4770A>G
n.4774A>G
 gnomAD v4
1g.1049754A>TCA337779132AGRNc.4703A>T (p.Glu1568Val)
c.4388A>T (p.Glu1463Val)
c.4289A>T (p.Glu1430Val)
c.3830A>T (p.Glu1277Val)
c.2969A>T (p.Glu990Val)
n.4770A>T
n.4774A>T
 gnomAD v4
1g.1049755G>ACA415758856AGRNc.4704G>A (p.Glu1568=)
c.4389G>A (p.Glu1463=)
c.4290G>A (p.Glu1430=)
c.3831G>A (p.Glu1277=)
c.2970G>A (p.Glu990=)
n.4771G>A
n.4775G>A
 gnomAD v4
1g.1049755G>CCA337779134AGRNc.4704G>C (p.Glu1568Asp)
c.4389G>C (p.Glu1463Asp)
c.4290G>C (p.Glu1430Asp)
c.3831G>C (p.Glu1277Asp)
c.2970G>C (p.Glu990Asp)
n.4771G>C
n.4775G>C
1g.1049755G>TCA337779136AGRNc.4704G>T (p.Glu1568Asp)
c.4389G>T (p.Glu1463Asp)
c.4290G>T (p.Glu1430Asp)
c.3831G>T (p.Glu1277Asp)
c.2970G>T (p.Glu990Asp)
n.4771G>T
n.4775G>T
 dbSNP gnomAD v4
1g.1049756G>ACA337779137AGRNc.4705G>A (p.Ala1569Thr)
c.4390G>A (p.Ala1464Thr)
c.4291G>A (p.Ala1431Thr)
c.3832G>A (p.Ala1278Thr)
c.2971G>A (p.Ala991Thr)
n.4772G>A
n.4776G>A
 dbSNP gnomAD v2 gnomAD v4
1g.1049756G>CCA337779139AGRNc.4705G>C (p.Ala1569Pro)
c.4390G>C (p.Ala1464Pro)
c.4291G>C (p.Ala1431Pro)
c.3832G>C (p.Ala1278Pro)
c.2971G>C (p.Ala991Pro)
n.4772G>C
n.4776G>C
1g.1049756G=CA1148745714AGRNc.4705G= (p.Ala1569=)
c.4390G= (p.Ala1464=)
c.4291G= (p.Ala1431=)
c.3832G= (p.Ala1278=)
c.2971G= (p.Ala991=)
n.4772G=
n.4776G=
1g.1049756G>TCA337779138AGRNc.4705G>T (p.Ala1569Ser)
c.4390G>T (p.Ala1464Ser)
c.4291G>T (p.Ala1431Ser)
c.3832G>T (p.Ala1278Ser)
c.2971G>T (p.Ala991Ser)
n.4772G>T
n.4776G>T
 gnomAD v4
1g.1049757C>ACA337779140AGRNc.4706C>A (p.Ala1569Asp)
c.4391C>A (p.Ala1464Asp)
c.4292C>A (p.Ala1431Asp)
c.3833C>A (p.Ala1278Asp)
c.2972C>A (p.Ala991Asp)
n.4773C>A
n.4777C>A
 gnomAD v4
1g.1049757C>GCA337779141AGRNc.4706C>G (p.Ala1569Gly)
c.4391C>G (p.Ala1464Gly)
c.4292C>G (p.Ala1431Gly)
c.3833C>G (p.Ala1278Gly)
c.2972C>G (p.Ala991Gly)
n.4773C>G
n.4777C>G
1g.1049757C>TCA337779142AGRNc.4706C>T (p.Ala1569Val)
c.4391C>T (p.Ala1464Val)
c.4292C>T (p.Ala1431Val)
c.3833C>T (p.Ala1278Val)
c.2972C>T (p.Ala991Val)
n.4773C>T
n.4777C>T
1g.1049758T>ACA415758860AGRNc.4707T>A (p.Ala1569=)
c.4392T>A (p.Ala1464=)
c.4293T>A (p.Ala1431=)
c.3834T>A (p.Ala1278=)
c.2973T>A (p.Ala991=)
n.4774T>A
n.4778T>A
 gnomAD v4
1g.1049758T>CCA415758862AGRNc.4707T>C (p.Ala1569=)
c.4392T>C (p.Ala1464=)
c.4293T>C (p.Ala1431=)
c.3834T>C (p.Ala1278=)
c.2973T>C (p.Ala991=)
n.4774T>C
n.4778T>C
1g.1049758T>GCA415758859AGRNc.4707T>G (p.Ala1569=)
c.4392T>G (p.Ala1464=)
c.4293T>G (p.Ala1431=)
c.3834T>G (p.Ala1278=)
c.2973T>G (p.Ala991=)
n.4774T>G
n.4778T>G
1g.1049759G>ACA337779143AGRNc.4708G>A (p.Gly1570Arg)
c.4393G>A (p.Gly1465Arg)
c.4294G>A (p.Gly1432Arg)
c.3835G>A (p.Gly1279Arg)
c.2974G>A (p.Gly992Arg)
n.4775G>A
n.4779G>A
 ClinVar gnomAD v4
1g.1049759G>CCA337779145AGRNc.4708G>C (p.Gly1570Arg)
c.4393G>C (p.Gly1465Arg)
c.4294G>C (p.Gly1432Arg)
c.3835G>C (p.Gly1279Arg)
c.2974G>C (p.Gly992Arg)
n.4775G>C
n.4779G>C
1g.1049759G>TCA337779147AGRNc.4708G>T (p.Gly1570Ter)
c.4393G>T (p.Gly1465Ter)
c.4294G>T (p.Gly1432Ter)
c.3835G>T (p.Gly1279Ter)
c.2974G>T (p.Gly992Ter)
n.4775G>T
n.4779G>T
1g.1049760G>ACA509574AGRNc.4709G>A (p.Gly1570Glu)
c.4394G>A (p.Gly1465Glu)
c.4295G>A (p.Gly1432Glu)
c.3836G>A (p.Gly1279Glu)
c.2975G>A (p.Gly992Glu)
n.4776G>A
n.4780G>A
 dbSNP ExAC gnomAD v2
1g.1049760G>CCA337779155AGRNc.4709G>C (p.Gly1570Ala)
c.4394G>C (p.Gly1465Ala)
c.4295G>C (p.Gly1432Ala)
c.3836G>C (p.Gly1279Ala)
c.2975G>C (p.Gly992Ala)
n.4776G>C
n.4780G>C
1g.1049760G=CA1148745735AGRNc.4709G= (p.Gly1570=)
c.4394G= (p.Gly1465=)
c.4295G= (p.Gly1432=)
c.3836G= (p.Gly1279=)
c.2975G= (p.Gly992=)
n.4776G=
n.4780G=
1g.1049760G>TCA337779157AGRNc.4709G>T (p.Gly1570Val)
c.4394G>T (p.Gly1465Val)
c.4295G>T (p.Gly1432Val)
c.3836G>T (p.Gly1279Val)
c.2975G>T (p.Gly992Val)
n.4776G>T
n.4780G>T
1g.1049761A>CCA415758865AGRNc.4710A>C (p.Gly1570=)
c.4395A>C (p.Gly1465=)
c.4296A>C (p.Gly1432=)
c.3837A>C (p.Gly1279=)
c.2976A>C (p.Gly992=)
n.4777A>C
n.4781A>C
1g.1049761A>GCA415758866AGRNc.4710A>G (p.Gly1570=)
c.4395A>G (p.Gly1465=)
c.4296A>G (p.Gly1432=)
c.3837A>G (p.Gly1279=)
c.2976A>G (p.Gly992=)
n.4777A>G
n.4781A>G
 gnomAD v4
1g.1049761A>TCA415758867AGRNc.4710A>T (p.Gly1570=)
c.4395A>T (p.Gly1465=)
c.4296A>T (p.Gly1432=)
c.3837A>T (p.Gly1279=)
c.2976A>T (p.Gly992=)
n.4777A>T
n.4781A>T
1g.1049762A=CA1148745751AGRNc.4711A= (p.Arg1571=)
c.4396A= (p.Arg1466=)
c.4297A= (p.Arg1433=)
c.3838A= (p.Arg1280=)
c.2977A= (p.Arg993=)
n.4778A=
n.4782A=
1g.1049762A>CCA415758868AGRNc.4711A>C (p.Arg1571=)
c.4396A>C (p.Arg1466=)
c.4297A>C (p.Arg1433=)
c.3838A>C (p.Arg1280=)
c.2977A>C (p.Arg993=)
n.4778A>C
n.4782A>C
1g.1049762A>GCA337779159AGRNc.4711A>G (p.Arg1571Gly)
c.4396A>G (p.Arg1466Gly)
c.4297A>G (p.Arg1433Gly)
c.3838A>G (p.Arg1280Gly)
c.2977A>G (p.Arg993Gly)
n.4778A>G
n.4782A>G
 dbSNP gnomAD v3 gnomAD v4
1g.1049762A>TCA337779161AGRNc.4711A>T (p.Arg1571Trp)
c.4396A>T (p.Arg1466Trp)
c.4297A>T (p.Arg1433Trp)
c.3838A>T (p.Arg1280Trp)
c.2977A>T (p.Arg993Trp)
n.4778A>T
n.4782A>T
1g.1049763G>ACA509575AGRNc.4712G>A (p.Arg1571Lys)
c.4397G>A (p.Arg1466Lys)
c.4298G>A (p.Arg1433Lys)
c.3839G>A (p.Arg1280Lys)
c.2978G>A (p.Arg993Lys)
n.4779G>A
n.4783G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049763G>CCA337779165AGRNc.4712G>C (p.Arg1571Thr)
c.4397G>C (p.Arg1466Thr)
c.4298G>C (p.Arg1433Thr)
c.3839G>C (p.Arg1280Thr)
c.2978G>C (p.Arg993Thr)
n.4779G>C
n.4783G>C
1g.1049763G=CA1146265533AGRNc.4712G= (p.Arg1571=)
c.4397G= (p.Arg1466=)
c.4298G= (p.Arg1433=)
c.3839G= (p.Arg1280=)
c.2978G= (p.Arg993=)
n.4779G=
n.4783G=
1g.1049763G>TCA337779163AGRNc.4712G>T (p.Arg1571Met)
c.4397G>T (p.Arg1466Met)
c.4298G>T (p.Arg1433Met)
c.3839G>T (p.Arg1280Met)
c.2978G>T (p.Arg993Met)
n.4779G>T
n.4783G>T
 gnomAD v4
1g.1049764G>ACA415758873AGRNc.4713G>A (p.Arg1571=)
c.4398G>A (p.Arg1466=)
c.4299G>A (p.Arg1433=)
c.3840G>A (p.Arg1280=)
c.2979G>A (p.Arg993=)
n.4780G>A
n.4784G>A
 ClinVar dbSNP gnomAD v4
1g.1049764G>CCA337779168AGRNc.4713G>C (p.Arg1571Ser)
c.4398G>C (p.Arg1466Ser)
c.4299G>C (p.Arg1433Ser)
c.3840G>C (p.Arg1280Ser)
c.2979G>C (p.Arg993Ser)
n.4780G>C
n.4784G>C
1g.1049764G=CA1148745779AGRNc.4713G= (p.Arg1571=)
c.4398G= (p.Arg1466=)
c.4299G= (p.Arg1433=)
c.3840G= (p.Arg1280=)
c.2979G= (p.Arg993=)
n.4780G=
n.4784G=
1g.1049764G>TCA509576AGRNc.4713G>T (p.Arg1571Ser)
c.4398G>T (p.Arg1466Ser)
c.4299G>T (p.Arg1433Ser)
c.3840G>T (p.Arg1280Ser)
c.2979G>T (p.Arg993Ser)
n.4780G>T
n.4784G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049765T>ACA337779170AGRNc.4714T>A (p.Phe1572Ile)
c.4399T>A (p.Phe1467Ile)
c.4300T>A (p.Phe1434Ile)
c.3841T>A (p.Phe1281Ile)
c.2980T>A (p.Phe994Ile)
n.4781T>A
n.4785T>A
1g.1049765T>CCA337779172AGRNc.4714T>C (p.Phe1572Leu)
c.4399T>C (p.Phe1467Leu)
c.4300T>C (p.Phe1434Leu)
c.3841T>C (p.Phe1281Leu)
c.2980T>C (p.Phe994Leu)
n.4781T>C
n.4785T>C
1g.1049765T>GCA337779174AGRNc.4714T>G (p.Phe1572Val)
c.4399T>G (p.Phe1467Val)
c.4300T>G (p.Phe1434Val)
c.3841T>G (p.Phe1281Val)
c.2980T>G (p.Phe994Val)
n.4781T>G
n.4785T>G
 dbSNP
1g.1049765T=CA1148745786AGRNc.4714T= (p.Phe1572=)
c.4399T= (p.Phe1467=)
c.4300T= (p.Phe1434=)
c.3841T= (p.Phe1281=)
c.2980T= (p.Phe994=)
n.4781T=
n.4785T=
1g.1049766T>ACA337779175AGRNc.4715T>A (p.Phe1572Tyr)
c.4400T>A (p.Phe1467Tyr)
c.4301T>A (p.Phe1434Tyr)
c.3842T>A (p.Phe1281Tyr)
c.2981T>A (p.Phe994Tyr)
n.4782T>A
n.4786T>A
1g.1049766T>CCA337779176AGRNc.4715T>C (p.Phe1572Ser)
c.4400T>C (p.Phe1467Ser)
c.4301T>C (p.Phe1434Ser)
c.3842T>C (p.Phe1281Ser)
c.2981T>C (p.Phe994Ser)
n.4782T>C
n.4786T>C
1g.1049766T>GCA337779177AGRNc.4715T>G (p.Phe1572Cys)
c.4400T>G (p.Phe1467Cys)
c.4301T>G (p.Phe1434Cys)
c.3842T>G (p.Phe1281Cys)
c.2981T>G (p.Phe994Cys)
n.4782T>G
n.4786T>G
1g.1049767C>ACA337779178AGRNc.4716C>A (p.Phe1572Leu)
c.4401C>A (p.Phe1467Leu)
c.4302C>A (p.Phe1434Leu)
c.3843C>A (p.Phe1281Leu)
c.2982C>A (p.Phe994Leu)
n.4783C>A
n.4787C>A
 gnomAD v4
1g.1049767C>GCA337779179AGRNc.4716C>G (p.Phe1572Leu)
c.4401C>G (p.Phe1467Leu)
c.4302C>G (p.Phe1434Leu)
c.3843C>G (p.Phe1281Leu)
c.2982C>G (p.Phe994Leu)
n.4783C>G
n.4787C>G
1g.1049767C>TCA415758880AGRNc.4716C>T (p.Phe1572=)
c.4401C>T (p.Phe1467=)
c.4302C>T (p.Phe1434=)
c.3843C>T (p.Phe1281=)
c.2982C>T (p.Phe994=)
n.4783C>T
n.4787C>T
 ClinVar
1g.1049768C>ACA337779181AGRNc.4717C>A (p.His1573Asn)
c.4402C>A (p.His1468Asn)
c.4303C>A (p.His1435Asn)
c.3844C>A (p.His1282Asn)
c.2983C>A (p.His995Asn)
n.4784C>A
n.4788C>A
 gnomAD v4
1g.1049768C=CA1148745789AGRNc.4717C= (p.His1573=)
c.4402C= (p.His1468=)
c.4303C= (p.His1435=)
c.3844C= (p.His1282=)
c.2983C= (p.His995=)
n.4784C=
n.4788C=
1g.1049768C>GCA337779183AGRNc.4717C>G (p.His1573Asp)
c.4402C>G (p.His1468Asp)
c.4303C>G (p.His1435Asp)
c.3844C>G (p.His1282Asp)
c.2983C>G (p.His995Asp)
n.4784C>G
n.4788C>G
1g.1049768C>TCA16700704AGRNc.4717C>T (p.His1573Tyr)
c.4402C>T (p.His1468Tyr)
c.4303C>T (p.His1435Tyr)
c.3844C>T (p.His1282Tyr)
c.2983C>T (p.His995Tyr)
n.4784C>T
n.4788C>T
 dbSNP gnomAD v3 gnomAD v4
1g.1049769A>CCA337779188AGRNc.4718A>C (p.His1573Pro)
c.4403A>C (p.His1468Pro)
c.4304A>C (p.His1435Pro)
c.3845A>C (p.His1282Pro)
c.2984A>C (p.His995Pro)
n.4785A>C
n.4789A>C
 gnomAD v4
1g.1049769A>GCA337779195AGRNc.4718A>G (p.His1573Arg)
c.4403A>G (p.His1468Arg)
c.4304A>G (p.His1435Arg)
c.3845A>G (p.His1282Arg)
c.2984A>G (p.His995Arg)
n.4785A>G
n.4789A>G
 gnomAD v4
1g.1049769A>TCA337779187AGRNc.4718A>T (p.His1573Leu)
c.4403A>T (p.His1468Leu)
c.4304A>T (p.His1435Leu)
c.3845A>T (p.His1282Leu)
c.2984A>T (p.His995Leu)
n.4785A>T
n.4789A>T
1g.1049770T>ACA337779197AGRNc.4719T>A (p.His1573Gln)
c.4404T>A (p.His1468Gln)
c.4305T>A (p.His1435Gln)
c.3846T>A (p.His1282Gln)
c.2985T>A (p.His995Gln)
n.4786T>A
n.4790T>A
1g.1049770T>CCA415758888AGRNc.4719T>C (p.His1573=)
c.4404T>C (p.His1468=)
c.4305T>C (p.His1435=)
c.3846T>C (p.His1282=)
c.2985T>C (p.His995=)
n.4786T>C
n.4790T>C
 dbSNP
1g.1049770T>GCA337779199AGRNc.4719T>G (p.His1573Gln)
c.4404T>G (p.His1468Gln)
c.4305T>G (p.His1435Gln)
c.3846T>G (p.His1282Gln)
c.2985T>G (p.His995Gln)
n.4786T>G
n.4790T>G
1g.1049770T=CA1148745797AGRNc.4719T= (p.His1573=)
c.4404T= (p.His1468=)
c.4305T= (p.His1435=)
c.3846T= (p.His1282=)
c.2985T= (p.His995=)
n.4786T=
n.4790T=
1g.1049771T>ACA337779201AGRNc.4720T>A (p.Cys1574Ser)
c.4405T>A (p.Cys1469Ser)
c.4306T>A (p.Cys1436Ser)
c.3847T>A (p.Cys1283Ser)
c.2986T>A (p.Cys996Ser)
n.4787T>A
n.4791T>A
1g.1049771T>CCA337779202AGRNc.4720T>C (p.Cys1574Arg)
c.4405T>C (p.Cys1469Arg)
c.4306T>C (p.Cys1436Arg)
c.3847T>C (p.Cys1283Arg)
c.2986T>C (p.Cys996Arg)
n.4787T>C
n.4791T>C
1g.1049771T>GCA337779203AGRNc.4720T>G (p.Cys1574Gly)
c.4405T>G (p.Cys1469Gly)
c.4306T>G (p.Cys1436Gly)
c.3847T>G (p.Cys1283Gly)
c.2986T>G (p.Cys996Gly)
n.4787T>G
n.4791T>G
1g.1049772G>ACA337779209AGRNc.4721G>A (p.Cys1574Tyr)
c.4406G>A (p.Cys1469Tyr)
c.4307G>A (p.Cys1436Tyr)
c.3848G>A (p.Cys1283Tyr)
c.2987G>A (p.Cys996Tyr)
n.4788G>A
n.4792G>A
 ClinVar gnomAD v4
1g.1049772G>CCA337779205AGRNc.4721G>C (p.Cys1574Ser)
c.4406G>C (p.Cys1469Ser)
c.4307G>C (p.Cys1436Ser)
c.3848G>C (p.Cys1283Ser)
c.2987G>C (p.Cys996Ser)
n.4788G>C
n.4792G>C
1g.1049772G>TCA337779207AGRNc.4721G>T (p.Cys1574Phe)
c.4406G>T (p.Cys1469Phe)
c.4307G>T (p.Cys1436Phe)
c.3848G>T (p.Cys1283Phe)
c.2987G>T (p.Cys996Phe)
n.4788G>T
n.4792G>T
1g.1049773C>ACA337779212AGRNc.4722C>A (p.Cys1574Ter)
c.4407C>A (p.Cys1469Ter)
c.4308C>A (p.Cys1436Ter)
c.3849C>A (p.Cys1283Ter)
c.2988C>A (p.Cys996Ter)
n.4789C>A
n.4793C>A
1g.1049773C>GCA337779213AGRNc.4722C>G (p.Cys1574Trp)
c.4407C>G (p.Cys1469Trp)
c.4308C>G (p.Cys1436Trp)
c.3849C>G (p.Cys1283Trp)
c.2988C>G (p.Cys996Trp)
n.4789C>G
n.4793C>G
1g.1049773C>TCA415758891AGRNc.4722C>T (p.Cys1574=)
c.4407C>T (p.Cys1469=)
c.4308C>T (p.Cys1436=)
c.3849C>T (p.Cys1283=)
c.2988C>T (p.Cys996=)
n.4789C>T
n.4793C>T
 gnomAD v4
1g.1049774delCA2742134930AGRNc.4723del (p.Gln1575SerfsTer?)
c.4408del (p.Gln1470SerfsTer?)
c.4309del (p.Gln1437SerfsTer?)
c.3850del (p.Gln1284SerfsTer?)
c.2989del (p.Gln997SerfsTer?)
n.4790del
n.4794del
1g.1049774C>ACA337779214AGRNc.4723C>A (p.Gln1575Lys)
c.4408C>A (p.Gln1470Lys)
c.4309C>A (p.Gln1437Lys)
c.3850C>A (p.Gln1284Lys)
c.2989C>A (p.Gln997Lys)
n.4790C>A
n.4794C>A
 dbSNP gnomAD v2 gnomAD v4
1g.1049774C=CA1148745816AGRNc.4723C= (p.Gln1575=)
c.4408C= (p.Gln1470=)
c.4309C= (p.Gln1437=)
c.3850C= (p.Gln1284=)
c.2989C= (p.Gln997=)
n.4790C=
n.4794C=
1g.1049774C>GCA337779215AGRNc.4723C>G (p.Gln1575Glu)
c.4408C>G (p.Gln1470Glu)
c.4309C>G (p.Gln1437Glu)
c.3850C>G (p.Gln1284Glu)
c.2989C>G (p.Gln997Glu)
n.4790C>G
n.4794C>G
1g.1049774C>TCA337779216AGRNc.4723C>T (p.Gln1575Ter)
c.4408C>T (p.Gln1470Ter)
c.4309C>T (p.Gln1437Ter)
c.3850C>T (p.Gln1284Ter)
c.2989C>T (p.Gln997Ter)
n.4790C>T
n.4794C>T
1g.1049775A=CA1148745879AGRNc.4724A= (p.Gln1575=)
c.4409A= (p.Gln1470=)
c.4310A= (p.Gln1437=)
c.3851A= (p.Gln1284=)
c.2990A= (p.Gln997=)
n.4791A=
n.4795A=
1g.1049775A>CCA509577AGRNc.4724A>C (p.Gln1575Pro)
c.4409A>C (p.Gln1470Pro)
c.4310A>C (p.Gln1437Pro)
c.3851A>C (p.Gln1284Pro)
c.2990A>C (p.Gln997Pro)
n.4791A>C
n.4795A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1049775A>GCA337779223AGRNc.4724A>G (p.Gln1575Arg)
c.4409A>G (p.Gln1470Arg)
c.4310A>G (p.Gln1437Arg)
c.3851A>G (p.Gln1284Arg)
c.2990A>G (p.Gln997Arg)
n.4791A>G
n.4795A>G
1g.1049775A>TCA337779217AGRNc.4724A>T (p.Gln1575Leu)
c.4409A>T (p.Gln1470Leu)
c.4310A>T (p.Gln1437Leu)
c.3851A>T (p.Gln1284Leu)
c.2990A>T (p.Gln997Leu)
n.4791A>T
n.4795A>T
1g.1049776G>ACA509578AGRNc.4725G>A (p.Gln1575=)
c.4410G>A (p.Gln1470=)
c.4311G>A (p.Gln1437=)
c.3852G>A (p.Gln1284=)
c.2991G>A (p.Gln997=)
n.4792G>A
n.4796G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.1049776G>CCA337779228AGRNc.4725G>C (p.Gln1575His)
c.4410G>C (p.Gln1470His)
c.4311G>C (p.Gln1437His)
c.3852G>C (p.Gln1284His)
c.2991G>C (p.Gln997His)
n.4792G>C
n.4796G>C
1g.1049776G=CA1148745889AGRNc.4725G= (p.Gln1575=)
c.4410G= (p.Gln1470=)
c.4311G= (p.Gln1437=)
c.3852G= (p.Gln1284=)
c.2991G= (p.Gln997=)
n.4792G=
n.4796G=
1g.1049776G>TCA337779229AGRNc.4725G>T (p.Gln1575His)
c.4410G>T (p.Gln1470His)
c.4311G>T (p.Gln1437His)
c.3852G>T (p.Gln1284His)
c.2991G>T (p.Gln997His)
n.4792G>T
n.4796G>T
1g.1049777T>ACA337779234AGRNc.4726T>A (p.Cys1576Ser)
c.4411T>A (p.Cys1471Ser)
c.4312T>A (p.Cys1438Ser)
c.3853T>A (p.Cys1285Ser)
c.2992T>A (p.Cys998Ser)
n.4793T>A
n.4797T>A
1g.1049777T>CCA337779235AGRNc.4726T>C (p.Cys1576Arg)
c.4411T>C (p.Cys1471Arg)
c.4312T>C (p.Cys1438Arg)
c.3853T>C (p.Cys1285Arg)
c.2992T>C (p.Cys998Arg)
n.4793T>C
n.4797T>C
1g.1049777T>GCA337779236AGRNc.4726T>G (p.Cys1576Gly)
c.4411T>G (p.Cys1471Gly)
c.4312T>G (p.Cys1438Gly)
c.3853T>G (p.Cys1285Gly)
c.2992T>G (p.Cys998Gly)
n.4793T>G
n.4797T>G
1g.1049778delCA2642496976AGRNc.4727del (p.Cys1576SerfsTer?)
c.4412del (p.Cys1471SerfsTer?)
c.4313del (p.Cys1438SerfsTer?)
c.3854del (p.Cys1285SerfsTer?)
c.2993del (p.Cys998SerfsTer?)
n.4794del
n.4798del
 gnomAD v4
1g.1049778G>ACA337779238AGRNc.4727G>A (p.Cys1576Tyr)
c.4412G>A (p.Cys1471Tyr)
c.4313G>A (p.Cys1438Tyr)
c.3854G>A (p.Cys1285Tyr)
c.2993G>A (p.Cys998Tyr)
n.4794G>A
n.4798G>A
1g.1049778G>CCA509579AGRNc.4727G>C (p.Cys1576Ser)
c.4412G>C (p.Cys1471Ser)
c.4313G>C (p.Cys1438Ser)
c.3854G>C (p.Cys1285Ser)
c.2993G>C (p.Cys998Ser)
n.4794G>C
n.4798G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1049778G=CA1148745901AGRNc.4727G= (p.Cys1576=)
c.4412G= (p.Cys1471=)
c.4313G= (p.Cys1438=)
c.3854G= (p.Cys1285=)
c.2993G= (p.Cys998=)
n.4794G=
n.4798G=
1g.1049778G>TCA337779237AGRNc.4727G>T (p.Cys1576Phe)
c.4412G>T (p.Cys1471Phe)
c.4313G>T (p.Cys1438Phe)
c.3854G>T (p.Cys1285Phe)
c.2993G>T (p.Cys998Phe)
n.4794G>T
n.4798G>T
 gnomAD v4
1g.1049779C>ACA337779240AGRNc.4728C>A (p.Cys1576Ter)
c.4413C>A (p.Cys1471Ter)
c.4314C>A (p.Cys1438Ter)
c.3855C>A (p.Cys1285Ter)
c.2994C>A (p.Cys998Ter)
n.4795C>A
n.4799C>A
1g.1049779C=CA1148745917AGRNc.4728C= (p.Cys1576=)
c.4413C= (p.Cys1471=)
c.4314C= (p.Cys1438=)
c.3855C= (p.Cys1285=)
c.2994C= (p.Cys998=)
n.4795C=
n.4799C=
1g.1049779C>GCA337779242AGRNc.4728C>G (p.Cys1576Trp)
c.4413C>G (p.Cys1471Trp)
c.4314C>G (p.Cys1438Trp)
c.3855C>G (p.Cys1285Trp)
c.2994C>G (p.Cys998Trp)
n.4795C>G
n.4799C>G
 ClinVar dbSNP gnomAD v4
1g.1049779C>TCA16700711AGRNc.4728C>T (p.Cys1576=)
c.4413C>T (p.Cys1471=)
c.4314C>T (p.Cys1438=)
c.3855C>T (p.Cys1285=)
c.2994C>T (p.Cys998=)
n.4795C>T
n.4799C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1049780C>ACA337779244AGRNc.4729C>A (p.Pro1577Thr)
c.4414C>A (p.Pro1472Thr)
c.4315C>A (p.Pro1439Thr)
c.3856C>A (p.Pro1286Thr)
c.2995C>A (p.Pro999Thr)
n.4796C>A
n.4800C>A
1g.1049780C>GCA337779245AGRNc.4729C>G (p.Pro1577Ala)
c.4414C>G (p.Pro1472Ala)
c.4315C>G (p.Pro1439Ala)
c.3856C>G (p.Pro1286Ala)
c.2995C>G (p.Pro999Ala)
n.4796C>G
n.4800C>G
 ClinVar
1g.1049780C>TCA337779246AGRNc.4729C>T (p.Pro1577Ser)
c.4414C>T (p.Pro1472Ser)
c.4315C>T (p.Pro1439Ser)
c.3856C>T (p.Pro1286Ser)
c.2995C>T (p.Pro999Ser)
n.4796C>T
n.4800C>T
1g.1049781C>ACA337779247AGRNc.4730C>A (p.Pro1577Gln)
c.4415C>A (p.Pro1472Gln)
c.4316C>A (p.Pro1439Gln)
c.3857C>A (p.Pro1286Gln)
c.2996C>A (p.Pro999Gln)
n.4797C>A
n.4801C>A
1g.1049781C=CA1148745926AGRNc.4730C= (p.Pro1577=)
c.4415C= (p.Pro1472=)
c.4316C= (p.Pro1439=)
c.3857C= (p.Pro1286=)
c.2996C= (p.Pro999=)
n.4797C=
n.4801C=
1g.1049781C>GCA337779249AGRNc.4730C>G (p.Pro1577Arg)
c.4415C>G (p.Pro1472Arg)
c.4316C>G (p.Pro1439Arg)
c.3857C>G (p.Pro1286Arg)
c.2996C>G (p.Pro999Arg)
n.4797C>G
n.4801C>G
1g.1049781C>TCA337779248AGRNc.4730C>T (p.Pro1577Leu)
c.4415C>T (p.Pro1472Leu)
c.4316C>T (p.Pro1439Leu)
c.3857C>T (p.Pro1286Leu)
c.2996C>T (p.Pro999Leu)
n.4797C>T
n.4801C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1049782G>ACA509580AGRNc.4731G>A (p.Pro1577=)
c.4416G>A (p.Pro1472=)
c.4317G>A (p.Pro1439=)
c.3858G>A (p.Pro1286=)
c.2997G>A (p.Pro999=)
n.4798G>A
n.4802G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049782G>CCA415758906AGRNc.4731G>C (p.Pro1577=)
c.4416G>C (p.Pro1472=)
c.4317G>C (p.Pro1439=)
c.3858G>C (p.Pro1286=)
c.2997G>C (p.Pro999=)
n.4798G>C
n.4802G>C
1g.1049782G=CA1141494558AGRNc.4731G= (p.Pro1577=)
c.4416G= (p.Pro1472=)
c.4317G= (p.Pro1439=)
c.3858G= (p.Pro1286=)
c.2997G= (p.Pro999=)
n.4798G=
n.4802G=
1g.1049782G>TCA16700713AGRNc.4731G>T (p.Pro1577=)
c.4416G>T (p.Pro1472=)
c.4317G>T (p.Pro1439=)
c.3858G>T (p.Pro1286=)
c.2997G>T (p.Pro999=)
n.4798G>T
n.4802G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1049783C>ACA337779250AGRNc.4732C>A (p.Pro1578Thr)
c.4417C>A (p.Pro1473Thr)
c.4318C>A (p.Pro1440Thr)
c.3859C>A (p.Pro1287Thr)
c.2998C>A (p.Pro1000Thr)
n.4799C>A
n.4803C>A
1g.1049783C=CA1148745981AGRNc.4732C= (p.Pro1578=)
c.4417C= (p.Pro1473=)
c.4318C= (p.Pro1440=)
c.3859C= (p.Pro1287=)
c.2998C= (p.Pro1000=)
n.4799C=
n.4803C=
1g.1049783C>GCA337779252AGRNc.4732C>G (p.Pro1578Ala)
c.4417C>G (p.Pro1473Ala)
c.4318C>G (p.Pro1440Ala)
c.3859C>G (p.Pro1287Ala)
c.2998C>G (p.Pro1000Ala)
n.4799C>G
n.4803C>G
1g.1049783C>TCA337779253AGRNc.4732C>T (p.Pro1578Ser)
c.4417C>T (p.Pro1473Ser)
c.4318C>T (p.Pro1440Ser)
c.3859C>T (p.Pro1287Ser)
c.2998C>T (p.Pro1000Ser)
n.4799C>T
n.4803C>T
 ClinVar dbSNP gnomAD v4
1g.1049785dupCA2742134931AGRNc.4734dup (p.Gly1579ArgfsTer10)
c.4419dup (p.Gly1474ArgfsTer10)
c.4320dup (p.Gly1441ArgfsTer10)
c.3861dup (p.Gly1288ArgfsTer10)
c.3000dup (p.Gly1001ArgfsTer10)
n.4801dup
n.4805dup
1g.1049784C>ACA337779255AGRNc.4733C>A (p.Pro1578His)
c.4418C>A (p.Pro1473His)
c.4319C>A (p.Pro1440His)
c.3860C>A (p.Pro1287His)
c.2999C>A (p.Pro1000His)
n.4800C>A
n.4804C>A
 gnomAD v4
1g.1049784C=CA1148745986AGRNc.4733C= (p.Pro1578=)
c.4418C= (p.Pro1473=)
c.4319C= (p.Pro1440=)
c.3860C= (p.Pro1287=)
c.2999C= (p.Pro1000=)
n.4800C=
n.4804C=
1g.1049784C>GCA337779256AGRNc.4733C>G (p.Pro1578Arg)
c.4418C>G (p.Pro1473Arg)
c.4319C>G (p.Pro1440Arg)
c.3860C>G (p.Pro1287Arg)
c.2999C>G (p.Pro1000Arg)
n.4800C>G
n.4804C>G
1g.1049784C>TCA337779262AGRNc.4733C>T (p.Pro1578Leu)
c.4418C>T (p.Pro1473Leu)
c.4319C>T (p.Pro1440Leu)
c.3860C>T (p.Pro1287Leu)
c.2999C>T (p.Pro1000Leu)
n.4800C>T
n.4804C>T
 dbSNP gnomAD v2 gnomAD v4
1g.1049784_1049785insACA2742134932AGRNc.4733_4734insA (p.Gly1579ArgfsTer10)
c.4418_4419insA (p.Gly1474ArgfsTer10)
c.4319_4320insA (p.Gly1441ArgfsTer10)
c.3860_3861insA (p.Gly1288ArgfsTer10)
c.2999_3000insA (p.Gly1001ArgfsTer10)
n.4800_4801insA
n.4804_4805insA
1g.1049785C>ACA415758913AGRNc.4734C>A (p.Pro1578=)
c.4419C>A (p.Pro1473=)
c.4320C>A (p.Pro1440=)
c.3861C>A (p.Pro1287=)
c.3000C>A (p.Pro1000=)
n.4801C>A
n.4805C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1049785C=CA1142857212AGRNc.4734C= (p.Pro1578=)
c.4419C= (p.Pro1473=)
c.4320C= (p.Pro1440=)
c.3861C= (p.Pro1287=)
c.3000C= (p.Pro1000=)
n.4801C=
n.4805C=
1g.1049785C>GCA415758914AGRNc.4734C>G (p.Pro1578=)
c.4419C>G (p.Pro1473=)
c.4320C>G (p.Pro1440=)
c.3861C>G (p.Pro1287=)
c.3000C>G (p.Pro1000=)
n.4801C>G
n.4805C>G
 dbSNP gnomAD v2 gnomAD v4
1g.1049785C>TCA509581AGRNc.4734C>T (p.Pro1578=)
c.4419C>T (p.Pro1473=)
c.4320C>T (p.Pro1440=)
c.3861C>T (p.Pro1287=)
c.3000C>T (p.Pro1000=)
n.4801C>T
n.4805C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched