Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.1050428G>ACA337779818AGRNc.4978G>A (p.Glu1660Lys)
c.4663G>A (p.Glu1555Lys)
c.4564G>A (p.Glu1522Lys)
c.4105G>A (p.Glu1369Lys)
c.3244G>A (p.Glu1082Lys)
n.5045G>A
n.5049G>A
1g.1050428G>CCA337779819AGRNc.4978G>C (p.Glu1660Gln)
c.4663G>C (p.Glu1555Gln)
c.4564G>C (p.Glu1522Gln)
c.4105G>C (p.Glu1369Gln)
c.3244G>C (p.Glu1082Gln)
n.5045G>C
n.5049G>C
1g.1050428G>TCA337779820AGRNc.4978G>T (p.Glu1660Ter)
c.4663G>T (p.Glu1555Ter)
c.4564G>T (p.Glu1522Ter)
c.4105G>T (p.Glu1369Ter)
c.3244G>T (p.Glu1082Ter)
n.5045G>T
n.5049G>T
1g.1050429A>CCA337779821AGRNc.4979A>C (p.Glu1660Ala)
c.4664A>C (p.Glu1555Ala)
c.4565A>C (p.Glu1522Ala)
c.4106A>C (p.Glu1369Ala)
c.3245A>C (p.Glu1082Ala)
n.5046A>C
n.5050A>C
1g.1050429A>GCA337779822AGRNc.4979A>G (p.Glu1660Gly)
c.4664A>G (p.Glu1555Gly)
c.4565A>G (p.Glu1522Gly)
c.4106A>G (p.Glu1369Gly)
c.3245A>G (p.Glu1082Gly)
n.5046A>G
n.5050A>G
1g.1050429A>TCA337779823AGRNc.4979A>T (p.Glu1660Val)
c.4664A>T (p.Glu1555Val)
c.4565A>T (p.Glu1522Val)
c.4106A>T (p.Glu1369Val)
c.3245A>T (p.Glu1082Val)
n.5046A>T
n.5050A>T
gnomAD v4
1g.1050430G>ACA415758890AGRNc.4980G>A (p.Glu1660=)
c.4665G>A (p.Glu1555=)
c.4566G>A (p.Glu1522=)
c.4107G>A (p.Glu1369=)
c.3246G>A (p.Glu1082=)
n.5047G>A
n.5051G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1050430G>CCA337779824AGRNc.4980G>C (p.Glu1660Asp)
c.4665G>C (p.Glu1555Asp)
c.4566G>C (p.Glu1522Asp)
c.4107G>C (p.Glu1369Asp)
c.3246G>C (p.Glu1082Asp)
n.5047G>C
n.5051G>C
1g.1050430G=CA1148750749AGRNc.4980G= (p.Glu1660=)
c.4665G= (p.Glu1555=)
c.4566G= (p.Glu1522=)
c.4107G= (p.Glu1369=)
c.3246G= (p.Glu1082=)
n.5047G=
n.5051G=
1g.1050430G>TCA337779825AGRNc.4980G>T (p.Glu1660Asp)
c.4665G>T (p.Glu1555Asp)
c.4566G>T (p.Glu1522Asp)
c.4107G>T (p.Glu1369Asp)
c.3246G>T (p.Glu1082Asp)
n.5047G>T
n.5051G>T
1g.1050431A>CCA337779826AGRNc.4981A>C (p.Lys1661Gln)
c.4666A>C (p.Lys1556Gln)
c.4567A>C (p.Lys1523Gln)
c.4108A>C (p.Lys1370Gln)
c.3247A>C (p.Lys1083Gln)
n.5048A>C
n.5052A>C
1g.1050431A>GCA337779827AGRNc.4981A>G (p.Lys1661Glu)
c.4666A>G (p.Lys1556Glu)
c.4567A>G (p.Lys1523Glu)
c.4108A>G (p.Lys1370Glu)
c.3247A>G (p.Lys1083Glu)
n.5048A>G
n.5052A>G
1g.1050431A>TCA337779828AGRNc.4981A>T (p.Lys1661Ter)
c.4666A>T (p.Lys1556Ter)
c.4567A>T (p.Lys1523Ter)
c.4108A>T (p.Lys1370Ter)
c.3247A>T (p.Lys1083Ter)
n.5048A>T
n.5052A>T
1g.1050432A=CA1148750751AGRNc.4982A= (p.Lys1661=)
c.4667A= (p.Lys1556=)
c.4568A= (p.Lys1523=)
c.4109A= (p.Lys1370=)
c.3248A= (p.Lys1083=)
n.5049A=
n.5053A=
1g.1050432A>CCA337779829AGRNc.4982A>C (p.Lys1661Thr)
c.4667A>C (p.Lys1556Thr)
c.4568A>C (p.Lys1523Thr)
c.4109A>C (p.Lys1370Thr)
c.3248A>C (p.Lys1083Thr)
n.5049A>C
n.5053A>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1050432A>GCA337779830AGRNc.4982A>G (p.Lys1661Arg)
c.4667A>G (p.Lys1556Arg)
c.4568A>G (p.Lys1523Arg)
c.4109A>G (p.Lys1370Arg)
c.3248A>G (p.Lys1083Arg)
n.5049A>G
n.5053A>G
1g.1050432A>TCA337779831AGRNc.4982A>T (p.Lys1661Met)
c.4667A>T (p.Lys1556Met)
c.4568A>T (p.Lys1523Met)
c.4109A>T (p.Lys1370Met)
c.3248A>T (p.Lys1083Met)
n.5049A>T
n.5053A>T
1g.1050433G>ACA415758898AGRNc.4983G>A (p.Lys1661=)
c.4668G>A (p.Lys1556=)
c.4569G>A (p.Lys1523=)
c.4110G>A (p.Lys1370=)
c.3249G>A (p.Lys1083=)
n.5050G>A
n.5054G>A
1g.1050433G>CCA337779832AGRNc.4983G>C (p.Lys1661Asn)
c.4668G>C (p.Lys1556Asn)
c.4569G>C (p.Lys1523Asn)
c.4110G>C (p.Lys1370Asn)
c.3249G>C (p.Lys1083Asn)
n.5050G>C
n.5054G>C
1g.1050433G>TCA337779833AGRNc.4983G>T (p.Lys1661Asn)
c.4668G>T (p.Lys1556Asn)
c.4569G>T (p.Lys1523Asn)
c.4110G>T (p.Lys1370Asn)
c.3249G>T (p.Lys1083Asn)
n.5050G>T
n.5054G>T
1g.1050434A>CCA337779834AGRNc.4984A>C (p.Met1662Leu)
c.4669A>C (p.Met1557Leu)
c.4570A>C (p.Met1524Leu)
c.4111A>C (p.Met1371Leu)
c.3250A>C (p.Met1084Leu)
n.5051A>C
n.5055A>C
1g.1050434A>GCA337779835AGRNc.4984A>G (p.Met1662Val)
c.4669A>G (p.Met1557Val)
c.4570A>G (p.Met1524Val)
c.4111A>G (p.Met1371Val)
c.3250A>G (p.Met1084Val)
n.5051A>G
n.5055A>G
1g.1050434A>TCA337779836AGRNc.4984A>T (p.Met1662Leu)
c.4669A>T (p.Met1557Leu)
c.4570A>T (p.Met1524Leu)
c.4111A>T (p.Met1371Leu)
c.3250A>T (p.Met1084Leu)
n.5051A>T
n.5055A>T
1g.1050435T>ACA337779838AGRNc.4985T>A (p.Met1662Lys)
c.4670T>A (p.Met1557Lys)
c.4571T>A (p.Met1524Lys)
c.4112T>A (p.Met1371Lys)
c.3251T>A (p.Met1084Lys)
n.5052T>A
n.5056T>A
1g.1050435T>CCA337779839AGRNc.4985T>C (p.Met1662Thr)
c.4670T>C (p.Met1557Thr)
c.4571T>C (p.Met1524Thr)
c.4112T>C (p.Met1371Thr)
c.3251T>C (p.Met1084Thr)
n.5052T>C
n.5056T>C
1g.1050435T>GCA337779837AGRNc.4985T>G (p.Met1662Arg)
c.4670T>G (p.Met1557Arg)
c.4571T>G (p.Met1524Arg)
c.4112T>G (p.Met1371Arg)
c.3251T>G (p.Met1084Arg)
n.5052T>G
n.5056T>G
1g.1050436G>ACA337779840AGRNc.4986G>A (p.Met1662Ile)
c.4671G>A (p.Met1557Ile)
c.4572G>A (p.Met1524Ile)
c.4113G>A (p.Met1371Ile)
c.3252G>A (p.Met1084Ile)
n.5053G>A
n.5057G>A
1g.1050436G>CCA337779841AGRNc.4986G>C (p.Met1662Ile)
c.4671G>C (p.Met1557Ile)
c.4572G>C (p.Met1524Ile)
c.4113G>C (p.Met1371Ile)
c.3252G>C (p.Met1084Ile)
n.5053G>C
n.5057G>C
1g.1050436G>TCA337779842AGRNc.4986G>T (p.Met1662Ile)
c.4671G>T (p.Met1557Ile)
c.4572G>T (p.Met1524Ile)
c.4113G>T (p.Met1371Ile)
c.3252G>T (p.Met1084Ile)
n.5053G>T
n.5057G>T
1g.1050437G>ACA509815AGRNc.4987G>A (p.Ala1663Thr)
c.4672G>A (p.Ala1558Thr)
c.4573G>A (p.Ala1525Thr)
c.4114G>A (p.Ala1372Thr)
c.3253G>A (p.Ala1085Thr)
n.5054G>A
n.5058G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.1050437G>CCA337779843AGRNc.4987G>C (p.Ala1663Pro)
c.4672G>C (p.Ala1558Pro)
c.4573G>C (p.Ala1525Pro)
c.4114G>C (p.Ala1372Pro)
c.3253G>C (p.Ala1085Pro)
n.5054G>C
n.5058G>C
1g.1050437G=CA1148750754AGRNc.4987G= (p.Ala1663=)
c.4672G= (p.Ala1558=)
c.4573G= (p.Ala1525=)
c.4114G= (p.Ala1372=)
c.3253G= (p.Ala1085=)
n.5054G=
n.5058G=
1g.1050437G>TCA337779844AGRNc.4987G>T (p.Ala1663Ser)
c.4672G>T (p.Ala1558Ser)
c.4573G>T (p.Ala1525Ser)
c.4114G>T (p.Ala1372Ser)
c.3253G>T (p.Ala1085Ser)
n.5054G>T
n.5058G>T
1g.1050438C>ACA337779845AGRNc.4988C>A (p.Ala1663Glu)
c.4673C>A (p.Ala1558Glu)
c.4574C>A (p.Ala1525Glu)
c.4115C>A (p.Ala1372Glu)
c.3254C>A (p.Ala1085Glu)
n.5055C>A
n.5059C>A
1g.1050438C=CA1148750793AGRNc.4988C= (p.Ala1663=)
c.4673C= (p.Ala1558=)
c.4574C= (p.Ala1525=)
c.4115C= (p.Ala1372=)
c.3254C= (p.Ala1085=)
n.5055C=
n.5059C=
1g.1050438C>GCA337779846AGRNc.4988C>G (p.Ala1663Gly)
c.4673C>G (p.Ala1558Gly)
c.4574C>G (p.Ala1525Gly)
c.4115C>G (p.Ala1372Gly)
c.3254C>G (p.Ala1085Gly)
n.5055C>G
n.5059C>G
1g.1050438C>TCA509816AGRNc.4988C>T (p.Ala1663Val)
c.4673C>T (p.Ala1558Val)
c.4574C>T (p.Ala1525Val)
c.4115C>T (p.Ala1372Val)
c.3254C>T (p.Ala1085Val)
n.5055C>T
n.5059C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1050439G>ACA509817AGRNc.4989G>A (p.Ala1663=)
c.4674G>A (p.Ala1558=)
c.4575G>A (p.Ala1525=)
c.4116G>A (p.Ala1372=)
c.3255G>A (p.Ala1085=)
n.5056G>A
n.5060G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050439G>CCA415758911AGRNc.4989G>C (p.Ala1663=)
c.4674G>C (p.Ala1558=)
c.4575G>C (p.Ala1525=)
c.4116G>C (p.Ala1372=)
c.3255G>C (p.Ala1085=)
n.5056G>C
n.5060G>C
dbSNP
1g.1050439G=CA1143808391AGRNc.4989G= (p.Ala1663=)
c.4674G= (p.Ala1558=)
c.4575G= (p.Ala1525=)
c.4116G= (p.Ala1372=)
c.3255G= (p.Ala1085=)
n.5056G=
n.5060G=
1g.1050439G>TCA415758912AGRNc.4989G>T (p.Ala1663=)
c.4674G>T (p.Ala1558=)
c.4575G>T (p.Ala1525=)
c.4116G>T (p.Ala1372=)
c.3255G>T (p.Ala1085=)
n.5056G>T
n.5060G>T
1g.1050440C>ACA337779847AGRNc.4990C>A (p.Leu1664Met)
c.4675C>A (p.Leu1559Met)
c.4576C>A (p.Leu1526Met)
c.4117C>A (p.Leu1373Met)
c.3256C>A (p.Leu1086Met)
n.5057C>A
n.5061C>A
1g.1050440C>GCA337779848AGRNc.4990C>G (p.Leu1664Val)
c.4675C>G (p.Leu1559Val)
c.4576C>G (p.Leu1526Val)
c.4117C>G (p.Leu1373Val)
c.3256C>G (p.Leu1086Val)
n.5057C>G
n.5061C>G
1g.1050440C>TCA415758917AGRNc.4990C>T (p.Leu1664=)
c.4675C>T (p.Leu1559=)
c.4576C>T (p.Leu1526=)
c.4117C>T (p.Leu1373=)
c.3256C>T (p.Leu1086=)
n.5057C>T
n.5061C>T
1g.1050441T>ACA337779850AGRNc.4991T>A (p.Leu1664Gln)
c.4676T>A (p.Leu1559Gln)
c.4577T>A (p.Leu1526Gln)
c.4118T>A (p.Leu1373Gln)
c.3257T>A (p.Leu1086Gln)
n.5058T>A
n.5062T>A
1g.1050441T>CCA337779851AGRNc.4991T>C (p.Leu1664Pro)
c.4676T>C (p.Leu1559Pro)
c.4577T>C (p.Leu1526Pro)
c.4118T>C (p.Leu1373Pro)
c.3257T>C (p.Leu1086Pro)
n.5058T>C
n.5062T>C
1g.1050441T>GCA337779849AGRNc.4991T>G (p.Leu1664Arg)
c.4676T>G (p.Leu1559Arg)
c.4577T>G (p.Leu1526Arg)
c.4118T>G (p.Leu1373Arg)
c.3257T>G (p.Leu1086Arg)
n.5058T>G
n.5062T>G
1g.1050442G>ACA415758924AGRNc.4992G>A (p.Leu1664=)
c.4677G>A (p.Leu1559=)
c.4578G>A (p.Leu1526=)
c.4119G>A (p.Leu1373=)
c.3258G>A (p.Leu1086=)
n.5059G>A
n.5063G>A
gnomAD v4
1g.1050442G>CCA415758925AGRNc.4992G>C (p.Leu1664=)
c.4677G>C (p.Leu1559=)
c.4578G>C (p.Leu1526=)
c.4119G>C (p.Leu1373=)
c.3258G>C (p.Leu1086=)
n.5059G>C
n.5063G>C
1g.1050442G>TCA415758926AGRNc.4992G>T (p.Leu1664=)
c.4677G>T (p.Leu1559=)
c.4578G>T (p.Leu1526=)
c.4119G>T (p.Leu1373=)
c.3258G>T (p.Leu1086=)
n.5059G>T
n.5063G>T
1g.1050443G>ACA337779852AGRNc.4993G>A (p.Glu1665Lys)
c.4678G>A (p.Glu1560Lys)
c.4579G>A (p.Glu1527Lys)
c.4120G>A (p.Glu1374Lys)
c.3259G>A (p.Glu1087Lys)
n.5060G>A
n.5064G>A
dbSNP gnomAD v2
1g.1050443G>CCA337779853AGRNc.4993G>C (p.Glu1665Gln)
c.4678G>C (p.Glu1560Gln)
c.4579G>C (p.Glu1527Gln)
c.4120G>C (p.Glu1374Gln)
c.3259G>C (p.Glu1087Gln)
n.5060G>C
n.5064G>C
1g.1050443G=CA1148750821AGRNc.4993G= (p.Glu1665=)
c.4678G= (p.Glu1560=)
c.4579G= (p.Glu1527=)
c.4120G= (p.Glu1374=)
c.3259G= (p.Glu1087=)
n.5060G=
n.5064G=
1g.1050443G>TCA337779854AGRNc.4993G>T (p.Glu1665Ter)
c.4678G>T (p.Glu1560Ter)
c.4579G>T (p.Glu1527Ter)
c.4120G>T (p.Glu1374Ter)
c.3259G>T (p.Glu1087Ter)
n.5060G>T
n.5064G>T
1g.1050444A>CCA337779855AGRNc.4994A>C (p.Glu1665Ala)
c.4679A>C (p.Glu1560Ala)
c.4580A>C (p.Glu1527Ala)
c.4121A>C (p.Glu1374Ala)
c.3260A>C (p.Glu1087Ala)
n.5061A>C
n.5065A>C
1g.1050444A>GCA337779856AGRNc.4994A>G (p.Glu1665Gly)
c.4679A>G (p.Glu1560Gly)
c.4580A>G (p.Glu1527Gly)
c.4121A>G (p.Glu1374Gly)
c.3260A>G (p.Glu1087Gly)
n.5061A>G
n.5065A>G
1g.1050444A>TCA337779857AGRNc.4994A>T (p.Glu1665Val)
c.4679A>T (p.Glu1560Val)
c.4580A>T (p.Glu1527Val)
c.4121A>T (p.Glu1374Val)
c.3260A>T (p.Glu1087Val)
n.5061A>T
n.5065A>T
1g.1050445G>ACA16701107AGRNc.4995G>A (p.Glu1665=)
c.4680G>A (p.Glu1560=)
c.4581G>A (p.Glu1527=)
c.4122G>A (p.Glu1374=)
c.3261G>A (p.Glu1087=)
n.5062G>A
n.5066G>A
dbSNP gnomAD v2 gnomAD v4
1g.1050445G>CCA337779858AGRNc.4995G>C (p.Glu1665Asp)
c.4680G>C (p.Glu1560Asp)
c.4581G>C (p.Glu1527Asp)
c.4122G>C (p.Glu1374Asp)
c.3261G>C (p.Glu1087Asp)
n.5062G>C
n.5066G>C
1g.1050445G=CA1148750828AGRNc.4995G= (p.Glu1665=)
c.4680G= (p.Glu1560=)
c.4581G= (p.Glu1527=)
c.4122G= (p.Glu1374=)
c.3261G= (p.Glu1087=)
n.5062G=
n.5066G=
1g.1050445G>TCA337779859AGRNc.4995G>T (p.Glu1665Asp)
c.4680G>T (p.Glu1560Asp)
c.4581G>T (p.Glu1527Asp)
c.4122G>T (p.Glu1374Asp)
c.3261G>T (p.Glu1087Asp)
n.5062G>T
n.5066G>T
1g.1050446G>ACA151669AGRNc.4996G>A (p.Val1666Ile)
c.4681G>A (p.Val1561Ile)
c.4582G>A (p.Val1528Ile)
c.4123G>A (p.Val1375Ile)
c.3262G>A (p.Val1088Ile)
n.5063G>A
n.5067G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050446G>CCA337779860AGRNc.4996G>C (p.Val1666Leu)
c.4681G>C (p.Val1561Leu)
c.4582G>C (p.Val1528Leu)
c.4123G>C (p.Val1375Leu)
c.3262G>C (p.Val1088Leu)
n.5063G>C
n.5067G>C
1g.1050446G=CA1140465420AGRNc.4996G= (p.Val1666=)
c.4681G= (p.Val1561=)
c.4582G= (p.Val1528=)
c.4123G= (p.Val1375=)
c.3262G= (p.Val1088=)
n.5063G=
n.5067G=
1g.1050446G>TCA16701111AGRNc.4996G>T (p.Val1666Phe)
c.4681G>T (p.Val1561Phe)
c.4582G>T (p.Val1528Phe)
c.4123G>T (p.Val1375Phe)
c.3262G>T (p.Val1088Phe)
n.5063G>T
n.5067G>T
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1050447T>ACA337779861AGRNc.4997T>A (p.Val1666Asp)
c.4682T>A (p.Val1561Asp)
c.4583T>A (p.Val1528Asp)
c.4124T>A (p.Val1375Asp)
c.3263T>A (p.Val1088Asp)
n.5064T>A
n.5068T>A
1g.1050447T>CCA337779862AGRNc.4997T>C (p.Val1666Ala)
c.4682T>C (p.Val1561Ala)
c.4583T>C (p.Val1528Ala)
c.4124T>C (p.Val1375Ala)
c.3263T>C (p.Val1088Ala)
n.5064T>C
n.5068T>C
1g.1050447T>GCA337779863AGRNc.4997T>G (p.Val1666Gly)
c.4682T>G (p.Val1561Gly)
c.4583T>G (p.Val1528Gly)
c.4124T>G (p.Val1375Gly)
c.3263T>G (p.Val1088Gly)
n.5064T>G
n.5068T>G
1g.1050448C>ACA415758934AGRNc.4998C>A (p.Val1666=)
c.4683C>A (p.Val1561=)
c.4584C>A (p.Val1528=)
c.4125C>A (p.Val1375=)
c.3264C>A (p.Val1088=)
n.5065C>A
n.5069C>A
dbSNP
1g.1050448C=CA1148415801AGRNc.4998C= (p.Val1666=)
c.4683C= (p.Val1561=)
c.4584C= (p.Val1528=)
c.4125C= (p.Val1375=)
c.3264C= (p.Val1088=)
n.5065C=
n.5069C=
1g.1050448C>GCA415758935AGRNc.4998C>G (p.Val1666=)
c.4683C>G (p.Val1561=)
c.4584C>G (p.Val1528=)
c.4125C>G (p.Val1375=)
c.3264C>G (p.Val1088=)
n.5065C>G
n.5069C>G
1g.1050448C>TCA509818AGRNc.4998C>T (p.Val1666=)
c.4683C>T (p.Val1561=)
c.4584C>T (p.Val1528=)
c.4125C>T (p.Val1375=)
c.3264C>T (p.Val1088=)
n.5065C>T
n.5069C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050449G>ACA509819AGRNc.4999G>A (p.Val1667Met)
c.4684G>A (p.Val1562Met)
c.4585G>A (p.Val1529Met)
c.4126G>A (p.Val1376Met)
c.3265G>A (p.Val1089Met)
n.5066G>A
n.5070G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050449G>CCA337779864AGRNc.4999G>C (p.Val1667Leu)
c.4684G>C (p.Val1562Leu)
c.4585G>C (p.Val1529Leu)
c.4126G>C (p.Val1376Leu)
c.3265G>C (p.Val1089Leu)
n.5066G>C
n.5070G>C
1g.1050449G=CA1148750842AGRNc.4999G= (p.Val1667=)
c.4684G= (p.Val1562=)
c.4585G= (p.Val1529=)
c.4126G= (p.Val1376=)
c.3265G= (p.Val1089=)
n.5066G=
n.5070G=
1g.1050449G>TCA337779865AGRNc.4999G>T (p.Val1667Leu)
c.4684G>T (p.Val1562Leu)
c.4585G>T (p.Val1529Leu)
c.4126G>T (p.Val1376Leu)
c.3265G>T (p.Val1089Leu)
n.5066G>T
n.5070G>T
1g.1050450T>ACA337779866AGRNc.5000T>A (p.Val1667Glu)
c.4685T>A (p.Val1562Glu)
c.4586T>A (p.Val1529Glu)
c.4127T>A (p.Val1376Glu)
c.3266T>A (p.Val1089Glu)
n.5067T>A
n.5071T>A
1g.1050450T>CCA337779867AGRNc.5000T>C (p.Val1667Ala)
c.4685T>C (p.Val1562Ala)
c.4586T>C (p.Val1529Ala)
c.4127T>C (p.Val1376Ala)
c.3266T>C (p.Val1089Ala)
n.5067T>C
n.5071T>C
dbSNP
1g.1050450T>GCA337779869AGRNc.5000T>G (p.Val1667Gly)
c.4685T>G (p.Val1562Gly)
c.4586T>G (p.Val1529Gly)
c.4127T>G (p.Val1376Gly)
c.3266T>G (p.Val1089Gly)
n.5067T>G
n.5071T>G
1g.1050450T=CA1148750843AGRNc.5000T= (p.Val1667=)
c.4685T= (p.Val1562=)
c.4586T= (p.Val1529=)
c.4127T= (p.Val1376=)
c.3266T= (p.Val1089=)
n.5067T=
n.5071T=
1g.1050451G>ACA415758936AGRNc.5001G>A (p.Val1667=)
c.4686G>A (p.Val1562=)
c.4587G>A (p.Val1529=)
c.4128G>A (p.Val1376=)
c.3267G>A (p.Val1089=)
n.5068G>A
n.5072G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1050451G>CCA415758937AGRNc.5001G>C (p.Val1667=)
c.4686G>C (p.Val1562=)
c.4587G>C (p.Val1529=)
c.4128G>C (p.Val1376=)
c.3267G>C (p.Val1089=)
n.5068G>C
n.5072G>C
1g.1050451G=CA1148750844AGRNc.5001G= (p.Val1667=)
c.4686G= (p.Val1562=)
c.4587G= (p.Val1529=)
c.4128G= (p.Val1376=)
c.3267G= (p.Val1089=)
n.5068G=
n.5072G=
1g.1050451G>TCA415758938AGRNc.5001G>T (p.Val1667=)
c.4686G>T (p.Val1562=)
c.4587G>T (p.Val1529=)
c.4128G>T (p.Val1376=)
c.3267G>T (p.Val1089=)
n.5068G>T
n.5072G>T
1g.1050452T>ACA337779874AGRNc.5002T>A (p.Phe1668Ile)
c.4687T>A (p.Phe1563Ile)
c.4588T>A (p.Phe1530Ile)
c.4129T>A (p.Phe1377Ile)
c.3268T>A (p.Phe1090Ile)
n.5069T>A
n.5073T>A
1g.1050452T>CCA337779876AGRNc.5002T>C (p.Phe1668Leu)
c.4687T>C (p.Phe1563Leu)
c.4588T>C (p.Phe1530Leu)
c.4129T>C (p.Phe1377Leu)
c.3268T>C (p.Phe1090Leu)
n.5069T>C
n.5073T>C
1g.1050452T>GCA337779878AGRNc.5002T>G (p.Phe1668Val)
c.4687T>G (p.Phe1563Val)
c.4588T>G (p.Phe1530Val)
c.4129T>G (p.Phe1377Val)
c.3268T>G (p.Phe1090Val)
n.5069T>G
n.5073T>G
1g.1050453T>ACA337779880AGRNc.5003T>A (p.Phe1668Tyr)
c.4688T>A (p.Phe1563Tyr)
c.4589T>A (p.Phe1530Tyr)
c.4130T>A (p.Phe1377Tyr)
c.3269T>A (p.Phe1090Tyr)
n.5070T>A
n.5074T>A
1g.1050453T>CCA337779882AGRNc.5003T>C (p.Phe1668Ser)
c.4688T>C (p.Phe1563Ser)
c.4589T>C (p.Phe1530Ser)
c.4130T>C (p.Phe1377Ser)
c.3269T>C (p.Phe1090Ser)
n.5070T>C
n.5074T>C
1g.1050453T>GCA337779884AGRNc.5003T>G (p.Phe1668Cys)
c.4688T>G (p.Phe1563Cys)
c.4589T>G (p.Phe1530Cys)
c.4130T>G (p.Phe1377Cys)
c.3269T>G (p.Phe1090Cys)
n.5070T>G
n.5074T>G
1g.1050454C>ACA337779888AGRNc.5004C>A (p.Phe1668Leu)
c.4689C>A (p.Phe1563Leu)
c.4590C>A (p.Phe1530Leu)
c.4131C>A (p.Phe1377Leu)
c.3270C>A (p.Phe1090Leu)
n.5071C>A
n.5075C>A
1g.1050454C=CA1148750847AGRNc.5004C= (p.Phe1668=)
c.4689C= (p.Phe1563=)
c.4590C= (p.Phe1530=)
c.4131C= (p.Phe1377=)
c.3270C= (p.Phe1090=)
n.5071C=
n.5075C=
1g.1050454C>GCA337779891AGRNc.5004C>G (p.Phe1668Leu)
c.4689C>G (p.Phe1563Leu)
c.4590C>G (p.Phe1530Leu)
c.4131C>G (p.Phe1377Leu)
c.3270C>G (p.Phe1090Leu)
n.5071C>G
n.5075C>G
gnomAD v4
1g.1050454C>TCA415758940AGRNc.5004C>T (p.Phe1668=)
c.4689C>T (p.Phe1563=)
c.4590C>T (p.Phe1530=)
c.4131C>T (p.Phe1377=)
c.3270C>T (p.Phe1090=)
n.5071C>T
n.5075C>T
dbSNP gnomAD v3 gnomAD v4
1g.1050455C>ACA337779894AGRNc.5005C>A (p.Leu1669Met)
c.4690C>A (p.Leu1564Met)
c.4591C>A (p.Leu1531Met)
c.4132C>A (p.Leu1378Met)
c.3271C>A (p.Leu1091Met)
n.5072C>A
n.5076C>A
1g.1050455C=CA1148750851AGRNc.5005C= (p.Leu1669=)
c.4690C= (p.Leu1564=)
c.4591C= (p.Leu1531=)
c.4132C= (p.Leu1378=)
c.3271C= (p.Leu1091=)
n.5072C=
n.5076C=
1g.1050455C>GCA337779893AGRNc.5005C>G (p.Leu1669Val)
c.4690C>G (p.Leu1564Val)
c.4591C>G (p.Leu1531Val)
c.4132C>G (p.Leu1378Val)
c.3271C>G (p.Leu1091Val)
n.5072C>G
n.5076C>G
1g.1050455C>TCA509820AGRNc.5005C>T (p.Leu1669=)
c.4690C>T (p.Leu1564=)
c.4591C>T (p.Leu1531=)
c.4132C>T (p.Leu1378=)
c.3271C>T (p.Leu1091=)
n.5072C>T
n.5076C>T
dbSNP ExAC gnomAD v2
1g.1050456T>ACA337779896AGRNc.5006T>A (p.Leu1669Gln)
c.4691T>A (p.Leu1564Gln)
c.4592T>A (p.Leu1531Gln)
c.4133T>A (p.Leu1378Gln)
c.3272T>A (p.Leu1091Gln)
n.5073T>A
n.5077T>A
1g.1050456T>CCA337779897AGRNc.5006T>C (p.Leu1669Pro)
c.4691T>C (p.Leu1564Pro)
c.4592T>C (p.Leu1531Pro)
c.4133T>C (p.Leu1378Pro)
c.3272T>C (p.Leu1091Pro)
n.5073T>C
n.5077T>C
dbSNP gnomAD v3 gnomAD v4
1g.1050456T>GCA337779898AGRNc.5006T>G (p.Leu1669Arg)
c.4691T>G (p.Leu1564Arg)
c.4592T>G (p.Leu1531Arg)
c.4133T>G (p.Leu1378Arg)
c.3272T>G (p.Leu1091Arg)
n.5073T>G
n.5077T>G
1g.1050456T=CA1148750859AGRNc.5006T= (p.Leu1669=)
c.4691T= (p.Leu1564=)
c.4592T= (p.Leu1531=)
c.4133T= (p.Leu1378=)
c.3272T= (p.Leu1091=)
n.5073T=
n.5077T=
1g.1050457G>ACA415758944AGRNc.5007G>A (p.Leu1669=)
c.4692G>A (p.Leu1564=)
c.4593G>A (p.Leu1531=)
c.4134G>A (p.Leu1378=)
c.3273G>A (p.Leu1091=)
n.5074G>A
n.5078G>A
1g.1050457G>CCA415758945AGRNc.5007G>C (p.Leu1669=)
c.4692G>C (p.Leu1564=)
c.4593G>C (p.Leu1531=)
c.4134G>C (p.Leu1378=)
c.3273G>C (p.Leu1091=)
n.5074G>C
n.5078G>C
1g.1050457G>TCA415758946AGRNc.5007G>T (p.Leu1669=)
c.4692G>T (p.Leu1564=)
c.4593G>T (p.Leu1531=)
c.4134G>T (p.Leu1378=)
c.3273G>T (p.Leu1091=)
n.5074G>T
n.5078G>T
1g.1050458G>ACA337779900AGRNc.5008G>A (p.Ala1670Thr)
c.4693G>A (p.Ala1565Thr)
c.4594G>A (p.Ala1532Thr)
c.4135G>A (p.Ala1379Thr)
c.3274G>A (p.Ala1092Thr)
n.5075G>A
n.5079G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1050458G>CCA337779912AGRNc.5008G>C (p.Ala1670Pro)
c.4693G>C (p.Ala1565Pro)
c.4594G>C (p.Ala1532Pro)
c.4135G>C (p.Ala1379Pro)
c.3274G>C (p.Ala1092Pro)
n.5075G>C
n.5079G>C
1g.1050458G=CA1148750866AGRNc.5008G= (p.Ala1670=)
c.4693G= (p.Ala1565=)
c.4594G= (p.Ala1532=)
c.4135G= (p.Ala1379=)
c.3274G= (p.Ala1092=)
n.5075G=
n.5079G=
1g.1050458G>TCA337779913AGRNc.5008G>T (p.Ala1670Ser)
c.4693G>T (p.Ala1565Ser)
c.4594G>T (p.Ala1532Ser)
c.4135G>T (p.Ala1379Ser)
c.3274G>T (p.Ala1092Ser)
n.5075G>T
n.5079G>T
1g.1050459C>ACA337779914AGRNc.5009C>A (p.Ala1670Glu)
c.4694C>A (p.Ala1565Glu)
c.4595C>A (p.Ala1532Glu)
c.4136C>A (p.Ala1379Glu)
c.3275C>A (p.Ala1092Glu)
n.5076C>A
n.5080C>A
1g.1050459C=CA1148750869AGRNc.5009C= (p.Ala1670=)
c.4694C= (p.Ala1565=)
c.4595C= (p.Ala1532=)
c.4136C= (p.Ala1379=)
c.3275C= (p.Ala1092=)
n.5076C=
n.5080C=
1g.1050459C>GCA337779915AGRNc.5009C>G (p.Ala1670Gly)
c.4694C>G (p.Ala1565Gly)
c.4595C>G (p.Ala1532Gly)
c.4136C>G (p.Ala1379Gly)
c.3275C>G (p.Ala1092Gly)
n.5076C>G
n.5080C>G
1g.1050459C>TCA337779916AGRNc.5009C>T (p.Ala1670Val)
c.4694C>T (p.Ala1565Val)
c.4595C>T (p.Ala1532Val)
c.4136C>T (p.Ala1379Val)
c.3275C>T (p.Ala1092Val)
n.5076C>T
n.5080C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1050460A=CA1148750900AGRNc.5010A= (p.Ala1670=)
c.4695A= (p.Ala1565=)
c.4596A= (p.Ala1532=)
c.4137A= (p.Ala1379=)
c.3276A= (p.Ala1092=)
n.5077A=
n.5081A=
1g.1050460A>CCA415758950AGRNc.5010A>C (p.Ala1670=)
c.4695A>C (p.Ala1565=)
c.4596A>C (p.Ala1532=)
c.4137A>C (p.Ala1379=)
c.3276A>C (p.Ala1092=)
n.5077A>C
n.5081A>C
1g.1050460A>GCA415758951AGRNc.5010A>G (p.Ala1670=)
c.4695A>G (p.Ala1565=)
c.4596A>G (p.Ala1532=)
c.4137A>G (p.Ala1379=)
c.3276A>G (p.Ala1092=)
n.5077A>G
n.5081A>G
dbSNP gnomAD v2 gnomAD v4
1g.1050460A>TCA415758952AGRNc.5010A>T (p.Ala1670=)
c.4695A>T (p.Ala1565=)
c.4596A>T (p.Ala1532=)
c.4137A>T (p.Ala1379=)
c.3276A>T (p.Ala1092=)
n.5077A>T
n.5081A>T
1g.1050461C>ACA509821AGRNc.5011C>A (p.Arg1671=)
c.4696C>A (p.Arg1566=)
c.4597C>A (p.Arg1533=)
c.4138C>A (p.Arg1380=)
c.3277C>A (p.Arg1093=)
n.5078C>A
n.5082C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.1050461C=CA1148263851AGRNc.5011C= (p.Arg1671=)
c.4696C= (p.Arg1566=)
c.4597C= (p.Arg1533=)
c.4138C= (p.Arg1380=)
c.3277C= (p.Arg1093=)
n.5078C=
n.5082C=
1g.1050461C>GCA337779919AGRNc.5011C>G (p.Arg1671Gly)
c.4696C>G (p.Arg1566Gly)
c.4597C>G (p.Arg1533Gly)
c.4138C>G (p.Arg1380Gly)
c.3277C>G (p.Arg1093Gly)
n.5078C>G
n.5082C>G
ClinVar
1g.1050461C>TCA337779921AGRNc.5011C>T (p.Arg1671Ter)
c.4696C>T (p.Arg1566Ter)
c.4597C>T (p.Arg1533Ter)
c.4138C>T (p.Arg1380Ter)
c.3277C>T (p.Arg1093Ter)
n.5078C>T
n.5082C>T
ClinVar gnomAD v4 COSMIC
1g.1050462G>ACA509822AGRNc.5012G>A (p.Arg1671Gln)
c.4697G>A (p.Arg1566Gln)
c.4598G>A (p.Arg1533Gln)
c.4139G>A (p.Arg1380Gln)
c.3278G>A (p.Arg1093Gln)
n.5079G>A
n.5083G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050462G>CCA337779925AGRNc.5012G>C (p.Arg1671Pro)
c.4697G>C (p.Arg1566Pro)
c.4598G>C (p.Arg1533Pro)
c.4139G>C (p.Arg1380Pro)
c.3278G>C (p.Arg1093Pro)
n.5079G>C
n.5083G>C
1g.1050462G=CA1148750909AGRNc.5012G= (p.Arg1671=)
c.4697G= (p.Arg1566=)
c.4598G= (p.Arg1533=)
c.4139G= (p.Arg1380=)
c.3278G= (p.Arg1093=)
n.5079G=
n.5083G=
1g.1050462G>TCA337779923AGRNc.5012G>T (p.Arg1671Leu)
c.4697G>T (p.Arg1566Leu)
c.4598G>T (p.Arg1533Leu)
c.4139G>T (p.Arg1380Leu)
c.3278G>T (p.Arg1093Leu)
n.5079G>T
n.5083G>T
1g.1050463A>CCA415758955AGRNc.5013A>C (p.Arg1671=)
c.4698A>C (p.Arg1566=)
c.4599A>C (p.Arg1533=)
c.4140A>C (p.Arg1380=)
c.3279A>C (p.Arg1093=)
n.5080A>C
n.5084A>C
1g.1050463A>GCA415758956AGRNc.5013A>G (p.Arg1671=)
c.4698A>G (p.Arg1566=)
c.4599A>G (p.Arg1533=)
c.4140A>G (p.Arg1380=)
c.3279A>G (p.Arg1093=)
n.5080A>G
n.5084A>G
1g.1050463A>TCA415758957AGRNc.5013A>T (p.Arg1671=)
c.4698A>T (p.Arg1566=)
c.4599A>T (p.Arg1533=)
c.4140A>T (p.Arg1380=)
c.3279A>T (p.Arg1093=)
n.5080A>T
n.5084A>T
1g.1050464G>ACA337779928AGRNc.5014G>A (p.Gly1672Ser)
c.4699G>A (p.Gly1567Ser)
c.4600G>A (p.Gly1534Ser)
c.4141G>A (p.Gly1381Ser)
c.3280G>A (p.Gly1094Ser)
n.5081G>A
n.5085G>A
1g.1050464G>CCA337779930AGRNc.5014G>C (p.Gly1672Arg)
c.4699G>C (p.Gly1567Arg)
c.4600G>C (p.Gly1534Arg)
c.4141G>C (p.Gly1381Arg)
c.3280G>C (p.Gly1094Arg)
n.5081G>C
n.5085G>C
1g.1050464G>TCA337779934AGRNc.5014G>T (p.Gly1672Cys)
c.4699G>T (p.Gly1567Cys)
c.4600G>T (p.Gly1534Cys)
c.4141G>T (p.Gly1381Cys)
c.3280G>T (p.Gly1094Cys)
n.5081G>T
n.5085G>T
1g.1050465G>ACA337779936AGRNc.5015G>A (p.Gly1672Asp)
c.4700G>A (p.Gly1567Asp)
c.4601G>A (p.Gly1534Asp)
c.4142G>A (p.Gly1381Asp)
c.3281G>A (p.Gly1094Asp)
n.5082G>A
n.5086G>A
ClinVar dbSNP gnomAD v4
1g.1050465G>CCA337779938AGRNc.5015G>C (p.Gly1672Ala)
c.4700G>C (p.Gly1567Ala)
c.4601G>C (p.Gly1534Ala)
c.4142G>C (p.Gly1381Ala)
c.3281G>C (p.Gly1094Ala)
n.5082G>C
n.5086G>C
1g.1050465G=CA1148750920AGRNc.5015G= (p.Gly1672=)
c.4700G= (p.Gly1567=)
c.4601G= (p.Gly1534=)
c.4142G= (p.Gly1381=)
c.3281G= (p.Gly1094=)
n.5082G=
n.5086G=
1g.1050465G>TCA337779940AGRNc.5015G>T (p.Gly1672Val)
c.4700G>T (p.Gly1567Val)
c.4601G>T (p.Gly1534Val)
c.4142G>T (p.Gly1381Val)
c.3281G>T (p.Gly1094Val)
n.5082G>T
n.5086G>T
1g.1050466C>ACA415758961AGRNc.5016C>A (p.Gly1672=)
c.4701C>A (p.Gly1567=)
c.4602C>A (p.Gly1534=)
c.4143C>A (p.Gly1381=)
c.3282C>A (p.Gly1094=)
n.5083C>A
n.5087C>A
1g.1050466C>GCA415758963AGRNc.5016C>G (p.Gly1672=)
c.4701C>G (p.Gly1567=)
c.4602C>G (p.Gly1534=)
c.4143C>G (p.Gly1381=)
c.3282C>G (p.Gly1094=)
n.5083C>G
n.5087C>G
1g.1050466C>TCA415758962AGRNc.5016C>T (p.Gly1672=)
c.4701C>T (p.Gly1567=)
c.4602C>T (p.Gly1534=)
c.4143C>T (p.Gly1381=)
c.3282C>T (p.Gly1094=)
n.5083C>T
n.5087C>T
1g.1050467C>ACA337779942AGRNc.5017C>A (p.Pro1673Thr)
c.4702C>A (p.Pro1568Thr)
c.4603C>A (p.Pro1535Thr)
c.4144C>A (p.Pro1382Thr)
c.3283C>A (p.Pro1095Thr)
n.5084C>A
n.5088C>A
1g.1050467C=CA1148750923AGRNc.5017C= (p.Pro1673=)
c.4702C= (p.Pro1568=)
c.4603C= (p.Pro1535=)
c.4144C= (p.Pro1382=)
c.3283C= (p.Pro1095=)
n.5084C=
n.5088C=
1g.1050467C>GCA337779944AGRNc.5017C>G (p.Pro1673Ala)
c.4702C>G (p.Pro1568Ala)
c.4603C>G (p.Pro1535Ala)
c.4144C>G (p.Pro1382Ala)
c.3283C>G (p.Pro1095Ala)
n.5084C>G
n.5088C>G
1g.1050467C>TCA509823AGRNc.5017C>T (p.Pro1673Ser)
c.4702C>T (p.Pro1568Ser)
c.4603C>T (p.Pro1535Ser)
c.4144C>T (p.Pro1382Ser)
c.3283C>T (p.Pro1095Ser)
n.5084C>T
n.5088C>T
dbSNP ExAC gnomAD v2 gnomAD v4
1g.1050468C>ACA337779948AGRNc.5018C>A (p.Pro1673His)
c.4703C>A (p.Pro1568His)
c.4604C>A (p.Pro1535His)
c.4145C>A (p.Pro1382His)
c.3284C>A (p.Pro1095His)
n.5085C>A
n.5089C>A
1g.1050468C=CA1148750971AGRNc.5018C= (p.Pro1673=)
c.4703C= (p.Pro1568=)
c.4604C= (p.Pro1535=)
c.4145C= (p.Pro1382=)
c.3284C= (p.Pro1095=)
n.5085C=
n.5089C=
1g.1050468C>GCA337779950AGRNc.5018C>G (p.Pro1673Arg)
c.4703C>G (p.Pro1568Arg)
c.4604C>G (p.Pro1535Arg)
c.4145C>G (p.Pro1382Arg)
c.3284C>G (p.Pro1095Arg)
n.5085C>G
n.5089C>G
dbSNP gnomAD v2 gnomAD v4
1g.1050468C>TCA337779952AGRNc.5018C>T (p.Pro1673Leu)
c.4703C>T (p.Pro1568Leu)
c.4604C>T (p.Pro1535Leu)
c.4145C>T (p.Pro1382Leu)
c.3284C>T (p.Pro1095Leu)
n.5085C>T
n.5089C>T
dbSNP gnomAD v3 gnomAD v4
1g.1050469C>ACA415758965AGRNc.5019C>A (p.Pro1673=)
c.4704C>A (p.Pro1568=)
c.4605C>A (p.Pro1535=)
c.4146C>A (p.Pro1382=)
c.3285C>A (p.Pro1095=)
n.5086C>A
n.5090C>A
1g.1050469C=CA1141733381AGRNc.5019C= (p.Pro1673=)
c.4704C= (p.Pro1568=)
c.4605C= (p.Pro1535=)
c.4146C= (p.Pro1382=)
c.3285C= (p.Pro1095=)
n.5086C=
n.5090C=
1g.1050469C>GCA415758966AGRNc.5019C>G (p.Pro1673=)
c.4704C>G (p.Pro1568=)
c.4605C>G (p.Pro1535=)
c.4146C>G (p.Pro1382=)
c.3285C>G (p.Pro1095=)
n.5086C>G
n.5090C>G
1g.1050469C>TCA16701118AGRNc.5019C>T (p.Pro1673=)
c.4704C>T (p.Pro1568=)
c.4605C>T (p.Pro1535=)
c.4146C>T (p.Pro1382=)
c.3285C>T (p.Pro1095=)
n.5086C>T
n.5090C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1050470A=CA1148750979AGRNc.5020A= (p.Ser1674=)
c.4705A= (p.Ser1569=)
c.4606A= (p.Ser1536=)
c.4147A= (p.Ser1383=)
c.3286A= (p.Ser1096=)
n.5087A=
n.5091A=
1g.1050470A>CCA337779958AGRNc.5020A>C (p.Ser1674Arg)
c.4705A>C (p.Ser1569Arg)
c.4606A>C (p.Ser1536Arg)
c.4147A>C (p.Ser1383Arg)
c.3286A>C (p.Ser1096Arg)
n.5087A>C
n.5091A>C
dbSNP gnomAD v2 gnomAD v4
1g.1050470A>GCA337779955AGRNc.5020A>G (p.Ser1674Gly)
c.4705A>G (p.Ser1569Gly)
c.4606A>G (p.Ser1536Gly)
c.4147A>G (p.Ser1383Gly)
c.3286A>G (p.Ser1096Gly)
n.5087A>G
n.5091A>G
1g.1050470A>TCA337779956AGRNc.5020A>T (p.Ser1674Cys)
c.4705A>T (p.Ser1569Cys)
c.4606A>T (p.Ser1536Cys)
c.4147A>T (p.Ser1383Cys)
c.3286A>T (p.Ser1096Cys)
n.5087A>T
n.5091A>T
1g.1050471G>ACA337779961AGRNc.5021G>A (p.Ser1674Asn)
c.4706G>A (p.Ser1569Asn)
c.4607G>A (p.Ser1536Asn)
c.4148G>A (p.Ser1383Asn)
c.3287G>A (p.Ser1096Asn)
n.5088G>A
n.5092G>A
1g.1050471G>CCA337779962AGRNc.5021G>C (p.Ser1674Thr)
c.4706G>C (p.Ser1569Thr)
c.4607G>C (p.Ser1536Thr)
c.4148G>C (p.Ser1383Thr)
c.3287G>C (p.Ser1096Thr)
n.5088G>C
n.5092G>C
1g.1050471G>TCA337779964AGRNc.5021G>T (p.Ser1674Ile)
c.4706G>T (p.Ser1569Ile)
c.4607G>T (p.Ser1536Ile)
c.4148G>T (p.Ser1383Ile)
c.3287G>T (p.Ser1096Ile)
n.5088G>T
n.5092G>T
gnomAD v4
1g.1050472C>ACA337779966AGRNc.5022C>A (p.Ser1674Arg)
c.4707C>A (p.Ser1569Arg)
c.4608C>A (p.Ser1536Arg)
c.4149C>A (p.Ser1383Arg)
c.3288C>A (p.Ser1096Arg)
n.5089C>A
n.5093C>A
gnomAD v4
1g.1050472C=CA1148750990AGRNc.5022C= (p.Ser1674=)
c.4707C= (p.Ser1569=)
c.4608C= (p.Ser1536=)
c.4149C= (p.Ser1383=)
c.3288C= (p.Ser1096=)
n.5089C=
n.5093C=
1g.1050472C>GCA337779968AGRNc.5022C>G (p.Ser1674Arg)
c.4707C>G (p.Ser1569Arg)
c.4608C>G (p.Ser1536Arg)
c.4149C>G (p.Ser1383Arg)
c.3288C>G (p.Ser1096Arg)
n.5089C>G
n.5093C>G
1g.1050472C>TCA415758968AGRNc.5022C>T (p.Ser1674=)
c.4707C>T (p.Ser1569=)
c.4608C>T (p.Ser1536=)
c.4149C>T (p.Ser1383=)
c.3288C>T (p.Ser1096=)
n.5089C>T
n.5093C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1050473G>ACA509824AGRNc.5023G>A (p.Gly1675Ser)
c.4708G>A (p.Gly1570Ser)
c.4609G>A (p.Gly1537Ser)
c.4150G>A (p.Gly1384Ser)
c.3289G>A (p.Gly1097Ser)
n.5090G>A
n.5094G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050473G>CCA337779969AGRNc.5023G>C (p.Gly1675Arg)
c.4708G>C (p.Gly1570Arg)
c.4609G>C (p.Gly1537Arg)
c.4150G>C (p.Gly1384Arg)
c.3289G>C (p.Gly1097Arg)
n.5090G>C
n.5094G>C
1g.1050473G=CA1148750998AGRNc.5023G= (p.Gly1675=)
c.4708G= (p.Gly1570=)
c.4609G= (p.Gly1537=)
c.4150G= (p.Gly1384=)
c.3289G= (p.Gly1097=)
n.5090G=
n.5094G=
1g.1050473G>TCA337779975AGRNc.5023G>T (p.Gly1675Cys)
c.4708G>T (p.Gly1570Cys)
c.4609G>T (p.Gly1537Cys)
c.4150G>T (p.Gly1384Cys)
c.3289G>T (p.Gly1097Cys)
n.5090G>T
n.5094G>T
1g.1050474G>ACA337779977AGRNc.5024G>A (p.Gly1675Asp)
c.4709G>A (p.Gly1570Asp)
c.4610G>A (p.Gly1537Asp)
c.4151G>A (p.Gly1384Asp)
c.3290G>A (p.Gly1097Asp)
n.5091G>A
n.5095G>A
1g.1050474G>CCA337779979AGRNc.5024G>C (p.Gly1675Ala)
c.4709G>C (p.Gly1570Ala)
c.4610G>C (p.Gly1537Ala)
c.4151G>C (p.Gly1384Ala)
c.3290G>C (p.Gly1097Ala)
n.5091G>C
n.5095G>C
1g.1050474G>TCA337779980AGRNc.5024G>T (p.Gly1675Val)
c.4709G>T (p.Gly1570Val)
c.4610G>T (p.Gly1537Val)
c.4151G>T (p.Gly1384Val)
c.3290G>T (p.Gly1097Val)
n.5091G>T
n.5095G>T
1g.1050475C>ACA415758971AGRNc.5025C>A (p.Gly1675=)
c.4710C>A (p.Gly1570=)
c.4611C>A (p.Gly1537=)
c.4152C>A (p.Gly1384=)
c.3291C>A (p.Gly1097=)
n.5092C>A
n.5096C>A
1g.1050475C=CA1142211895AGRNc.5025C= (p.Gly1675=)
c.4710C= (p.Gly1570=)
c.4611C= (p.Gly1537=)
c.4152C= (p.Gly1384=)
c.3291C= (p.Gly1097=)
n.5092C=
n.5096C=
1g.1050475C>GCA415758970AGRNc.5025C>G (p.Gly1675=)
c.4710C>G (p.Gly1570=)
c.4611C>G (p.Gly1537=)
c.4152C>G (p.Gly1384=)
c.3291C>G (p.Gly1097=)
n.5092C>G
n.5096C>G
1g.1050475C>TCA509825AGRNc.5025C>T (p.Gly1675=)
c.4710C>T (p.Gly1570=)
c.4611C>T (p.Gly1537=)
c.4152C>T (p.Gly1384=)
c.3291C>T (p.Gly1097=)
n.5092C>T
n.5096C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050476C>ACA337779985AGRNc.5026C>A (p.Leu1676Ile)
c.4711C>A (p.Leu1571Ile)
c.4612C>A (p.Leu1538Ile)
c.4153C>A (p.Leu1385Ile)
c.3292C>A (p.Leu1098Ile)
n.5093C>A
n.5097C>A
1g.1050476C>GCA337779986AGRNc.5026C>G (p.Leu1676Val)
c.4711C>G (p.Leu1571Val)
c.4612C>G (p.Leu1538Val)
c.4153C>G (p.Leu1385Val)
c.3292C>G (p.Leu1098Val)
n.5093C>G
n.5097C>G
1g.1050476C>TCA337779984AGRNc.5026C>T (p.Leu1676Phe)
c.4711C>T (p.Leu1571Phe)
c.4612C>T (p.Leu1538Phe)
c.4153C>T (p.Leu1385Phe)
c.3292C>T (p.Leu1098Phe)
n.5093C>T
n.5097C>T
1g.1050477T>ACA337779988AGRNc.5027T>A (p.Leu1676His)
c.4712T>A (p.Leu1571His)
c.4613T>A (p.Leu1538His)
c.4154T>A (p.Leu1385His)
c.3293T>A (p.Leu1098His)
n.5094T>A
n.5098T>A
1g.1050477T>CCA337779987AGRNc.5027T>C (p.Leu1676Pro)
c.4712T>C (p.Leu1571Pro)
c.4613T>C (p.Leu1538Pro)
c.4154T>C (p.Leu1385Pro)
c.3293T>C (p.Leu1098Pro)
n.5094T>C
n.5098T>C
dbSNP
1g.1050477T>GCA337779989AGRNc.5027T>G (p.Leu1676Arg)
c.4712T>G (p.Leu1571Arg)
c.4613T>G (p.Leu1538Arg)
c.4154T>G (p.Leu1385Arg)
c.3293T>G (p.Leu1098Arg)
n.5094T>G
n.5098T>G
1g.1050477T=CA1148751007AGRNc.5027T= (p.Leu1676=)
c.4712T= (p.Leu1571=)
c.4613T= (p.Leu1538=)
c.4154T= (p.Leu1385=)
c.3293T= (p.Leu1098=)
n.5094T=
n.5098T=
1g.1050478C>ACA415758974AGRNc.5028C>A (p.Leu1676=)
c.4713C>A (p.Leu1571=)
c.4614C>A (p.Leu1538=)
c.4155C>A (p.Leu1385=)
c.3294C>A (p.Leu1098=)
n.5095C>A
n.5099C>A
1g.1050478C=CA1148751049AGRNc.5028C= (p.Leu1676=)
c.4713C= (p.Leu1571=)
c.4614C= (p.Leu1538=)
c.4155C= (p.Leu1385=)
c.3294C= (p.Leu1098=)
n.5095C=
n.5099C=
1g.1050478C>GCA415758975AGRNc.5028C>G (p.Leu1676=)
c.4713C>G (p.Leu1571=)
c.4614C>G (p.Leu1538=)
c.4155C>G (p.Leu1385=)
c.3294C>G (p.Leu1098=)
n.5095C>G
n.5099C>G
1g.1050478C>TCA509826AGRNc.5028C>T (p.Leu1676=)
c.4713C>T (p.Leu1571=)
c.4614C>T (p.Leu1538=)
c.4155C>T (p.Leu1385=)
c.3294C>T (p.Leu1098=)
n.5095C>T
n.5099C>T
dbSNP ExAC gnomAD v2 gnomAD v4
1g.1050479C>ACA337779990AGRNc.5029C>A (p.Leu1677Met)
c.4714C>A (p.Leu1572Met)
c.4615C>A (p.Leu1539Met)
c.4156C>A (p.Leu1386Met)
c.3295C>A (p.Leu1099Met)
n.5096C>A
n.5100C>A
1g.1050479C>GCA337779991AGRNc.5029C>G (p.Leu1677Val)
c.4714C>G (p.Leu1572Val)
c.4615C>G (p.Leu1539Val)
c.4156C>G (p.Leu1386Val)
c.3295C>G (p.Leu1099Val)
n.5096C>G
n.5100C>G
1g.1050479C>TCA415758976AGRNc.5029C>T (p.Leu1677=)
c.4714C>T (p.Leu1572=)
c.4615C>T (p.Leu1539=)
c.4156C>T (p.Leu1386=)
c.3295C>T (p.Leu1099=)
n.5096C>T
n.5100C>T
gnomAD v4
1g.1050480T>ACA337779993AGRNc.5030T>A (p.Leu1677Gln)
c.4715T>A (p.Leu1572Gln)
c.4616T>A (p.Leu1539Gln)
c.4157T>A (p.Leu1386Gln)
c.3296T>A (p.Leu1099Gln)
n.5097T>A
n.5101T>A
1g.1050480T>CCA337779995AGRNc.5030T>C (p.Leu1677Pro)
c.4715T>C (p.Leu1572Pro)
c.4616T>C (p.Leu1539Pro)
c.4157T>C (p.Leu1386Pro)
c.3296T>C (p.Leu1099Pro)
n.5097T>C
n.5101T>C
1g.1050480T>GCA337779997AGRNc.5030T>G (p.Leu1677Arg)
c.4715T>G (p.Leu1572Arg)
c.4616T>G (p.Leu1539Arg)
c.4157T>G (p.Leu1386Arg)
c.3296T>G (p.Leu1099Arg)
n.5097T>G
n.5101T>G
1g.1050481G>ACA415758978AGRNc.5031G>A (p.Leu1677=)
c.4716G>A (p.Leu1572=)
c.4617G>A (p.Leu1539=)
c.4158G>A (p.Leu1386=)
c.3297G>A (p.Leu1099=)
n.5098G>A
n.5102G>A
1g.1050481G>CCA415758979AGRNc.5031G>C (p.Leu1677=)
c.4716G>C (p.Leu1572=)
c.4617G>C (p.Leu1539=)
c.4158G>C (p.Leu1386=)
c.3297G>C (p.Leu1099=)
n.5098G>C
n.5102G>C
1g.1050481G>TCA415758980AGRNc.5031G>T (p.Leu1677=)
c.4716G>T (p.Leu1572=)
c.4617G>T (p.Leu1539=)
c.4158G>T (p.Leu1386=)
c.3297G>T (p.Leu1099=)
n.5098G>T
n.5102G>T
gnomAD v4
1g.1050482C>ACA337779999AGRNc.5032C>A (p.Leu1678Ile)
c.4717C>A (p.Leu1573Ile)
c.4618C>A (p.Leu1540Ile)
c.4159C>A (p.Leu1387Ile)
c.3298C>A (p.Leu1100Ile)
n.5099C>A
n.5103C>A
1g.1050482C=CA1148751058AGRNc.5032C= (p.Leu1678=)
c.4717C= (p.Leu1573=)
c.4618C= (p.Leu1540=)
c.4159C= (p.Leu1387=)
c.3298C= (p.Leu1100=)
n.5099C=
n.5103C=
1g.1050482C>GCA337780001AGRNc.5032C>G (p.Leu1678Val)
c.4717C>G (p.Leu1573Val)
c.4618C>G (p.Leu1540Val)
c.4159C>G (p.Leu1387Val)
c.3298C>G (p.Leu1100Val)
n.5099C>G
n.5103C>G
1g.1050482C>TCA337780003AGRNc.5032C>T (p.Leu1678Phe)
c.4717C>T (p.Leu1573Phe)
c.4618C>T (p.Leu1540Phe)
c.4159C>T (p.Leu1387Phe)
c.3298C>T (p.Leu1100Phe)
n.5099C>T
n.5103C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1050483T>ACA337780009AGRNc.5033T>A (p.Leu1678His)
c.4718T>A (p.Leu1573His)
c.4619T>A (p.Leu1540His)
c.4160T>A (p.Leu1387His)
c.3299T>A (p.Leu1100His)
n.5100T>A
n.5104T>A
1g.1050483T>CCA337780011AGRNc.5033T>C (p.Leu1678Pro)
c.4718T>C (p.Leu1573Pro)
c.4619T>C (p.Leu1540Pro)
c.4160T>C (p.Leu1387Pro)
c.3299T>C (p.Leu1100Pro)
n.5100T>C
n.5104T>C
1g.1050483T>GCA337780013AGRNc.5033T>G (p.Leu1678Arg)
c.4718T>G (p.Leu1573Arg)
c.4619T>G (p.Leu1540Arg)
c.4160T>G (p.Leu1387Arg)
c.3299T>G (p.Leu1100Arg)
n.5100T>G
n.5104T>G
1g.1050484C>ACA415758984AGRNc.5034C>A (p.Leu1678=)
c.4719C>A (p.Leu1573=)
c.4620C>A (p.Leu1540=)
c.4161C>A (p.Leu1387=)
c.3300C>A (p.Leu1100=)
n.5101C>A
n.5105C>A
1g.1050484C>GCA415758985AGRNc.5034C>G (p.Leu1678=)
c.4719C>G (p.Leu1573=)
c.4620C>G (p.Leu1540=)
c.4161C>G (p.Leu1387=)
c.3300C>G (p.Leu1100=)
n.5101C>G
n.5105C>G
1g.1050484C>TCA415758983AGRNc.5034C>T (p.Leu1678=)
c.4719C>T (p.Leu1573=)
c.4620C>T (p.Leu1540=)
c.4161C>T (p.Leu1387=)
c.3300C>T (p.Leu1100=)
n.5101C>T
n.5105C>T
gnomAD v4
1g.1050485T>ACA337780018AGRNc.5035T>A (p.Tyr1679Asn)
c.4720T>A (p.Tyr1574Asn)
c.4621T>A (p.Tyr1541Asn)
c.4162T>A (p.Tyr1388Asn)
c.3301T>A (p.Tyr1101Asn)
n.5102T>A
n.5106T>A
1g.1050485T>CCA337780015AGRNc.5035T>C (p.Tyr1679His)
c.4720T>C (p.Tyr1574His)
c.4621T>C (p.Tyr1541His)
c.4162T>C (p.Tyr1388His)
c.3301T>C (p.Tyr1101His)
n.5102T>C
n.5106T>C
1g.1050485T>GCA337780016AGRNc.5035T>G (p.Tyr1679Asp)
c.4720T>G (p.Tyr1574Asp)
c.4621T>G (p.Tyr1541Asp)
c.4162T>G (p.Tyr1388Asp)
c.3301T>G (p.Tyr1101Asp)
n.5102T>G
n.5106T>G
1g.1050486A>CCA337780020AGRNc.5036A>C (p.Tyr1679Ser)
c.4721A>C (p.Tyr1574Ser)
c.4622A>C (p.Tyr1541Ser)
c.4163A>C (p.Tyr1388Ser)
c.3302A>C (p.Tyr1101Ser)
n.5103A>C
n.5107A>C
1g.1050486A>GCA337780022AGRNc.5036A>G (p.Tyr1679Cys)
c.4721A>G (p.Tyr1574Cys)
c.4622A>G (p.Tyr1541Cys)
c.4163A>G (p.Tyr1388Cys)
c.3302A>G (p.Tyr1101Cys)
n.5103A>G
n.5107A>G
COSMIC
1g.1050486A>TCA337780024AGRNc.5036A>T (p.Tyr1679Phe)
c.4721A>T (p.Tyr1574Phe)
c.4622A>T (p.Tyr1541Phe)
c.4163A>T (p.Tyr1388Phe)
c.3302A>T (p.Tyr1101Phe)
n.5103A>T
n.5107A>T
1g.1050487C>ACA337780026AGRNc.5037C>A (p.Tyr1679Ter)
c.4722C>A (p.Tyr1574Ter)
c.4623C>A (p.Tyr1541Ter)
c.4164C>A (p.Tyr1388Ter)
c.3303C>A (p.Tyr1101Ter)
n.5104C>A
n.5108C>A
gnomAD v4
1g.1050487C>GCA337780027AGRNc.5037C>G (p.Tyr1679Ter)
c.4722C>G (p.Tyr1574Ter)
c.4623C>G (p.Tyr1541Ter)
c.4164C>G (p.Tyr1388Ter)
c.3303C>G (p.Tyr1101Ter)
n.5104C>G
n.5108C>G
1g.1050487C>TCA415758989AGRNc.5037C>T (p.Tyr1679=)
c.4722C>T (p.Tyr1574=)
c.4623C>T (p.Tyr1541=)
c.4164C>T (p.Tyr1388=)
c.3303C>T (p.Tyr1101=)
n.5104C>T
n.5108C>T
gnomAD v4
1g.1050488A=CA1148751061AGRNc.5038A= (p.Asn1680=)
c.4723A= (p.Asn1575=)
c.4624A= (p.Asn1542=)
c.4165A= (p.Asn1389=)
c.3304A= (p.Asn1102=)
n.5105A=
n.5109A=
1g.1050488A>CCA337780028AGRNc.5038A>C (p.Asn1680His)
c.4723A>C (p.Asn1575His)
c.4624A>C (p.Asn1542His)
c.4165A>C (p.Asn1389His)
c.3304A>C (p.Asn1102His)
n.5105A>C
n.5109A>C
1g.1050488A>GCA337780029AGRNc.5038A>G (p.Asn1680Asp)
c.4723A>G (p.Asn1575Asp)
c.4624A>G (p.Asn1542Asp)
c.4165A>G (p.Asn1389Asp)
c.3304A>G (p.Asn1102Asp)
n.5105A>G
n.5109A>G
ClinVar dbSNP gnomAD v4
1g.1050488A>TCA337780030AGRNc.5038A>T (p.Asn1680Tyr)
c.4723A>T (p.Asn1575Tyr)
c.4624A>T (p.Asn1542Tyr)
c.4165A>T (p.Asn1389Tyr)
c.3304A>T (p.Asn1102Tyr)
n.5105A>T
n.5109A>T
1g.1050489A>CCA337780031AGRNc.5039A>C (p.Asn1680Thr)
c.4724A>C (p.Asn1575Thr)
c.4625A>C (p.Asn1542Thr)
c.4166A>C (p.Asn1389Thr)
c.3305A>C (p.Asn1102Thr)
n.5106A>C
n.5110A>C
1g.1050489A>GCA337780032AGRNc.5039A>G (p.Asn1680Ser)
c.4724A>G (p.Asn1575Ser)
c.4625A>G (p.Asn1542Ser)
c.4166A>G (p.Asn1389Ser)
c.3305A>G (p.Asn1102Ser)
n.5106A>G
n.5110A>G
1g.1050489A>TCA337780034AGRNc.5039A>T (p.Asn1680Ile)
c.4724A>T (p.Asn1575Ile)
c.4625A>T (p.Asn1542Ile)
c.4166A>T (p.Asn1389Ile)
c.3305A>T (p.Asn1102Ile)
n.5106A>T
n.5110A>T
1g.1050490C>ACA337780037AGRNc.5040C>A (p.Asn1680Lys)
c.4725C>A (p.Asn1575Lys)
c.4626C>A (p.Asn1542Lys)
c.4167C>A (p.Asn1389Lys)
c.3306C>A (p.Asn1102Lys)
n.5107C>A
n.5111C>A
gnomAD v4
1g.1050490C=CA1143600900AGRNc.5040C= (p.Asn1680=)
c.4725C= (p.Asn1575=)
c.4626C= (p.Asn1542=)
c.4167C= (p.Asn1389=)
c.3306C= (p.Asn1102=)
n.5107C=
n.5111C=
1g.1050490C>GCA337780039AGRNc.5040C>G (p.Asn1680Lys)
c.4725C>G (p.Asn1575Lys)
c.4626C>G (p.Asn1542Lys)
c.4167C>G (p.Asn1389Lys)
c.3306C>G (p.Asn1102Lys)
n.5107C>G
n.5111C>G
1g.1050490C>TCA509827AGRNc.5040C>T (p.Asn1680=)
c.4725C>T (p.Asn1575=)
c.4626C>T (p.Asn1542=)
c.4167C>T (p.Asn1389=)
c.3306C>T (p.Asn1102=)
n.5107C>T
n.5111C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050491G>ACA509828AGRNc.5041G>A (p.Gly1681Arg)
c.4726G>A (p.Gly1576Arg)
c.4627G>A (p.Gly1543Arg)
c.4168G>A (p.Gly1390Arg)
c.3307G>A (p.Gly1103Arg)
n.5108G>A
n.5112G>A
dbSNP ExAC gnomAD v2 gnomAD v4
1g.1050491G>CCA337780044AGRNc.5041G>C (p.Gly1681Arg)
c.4726G>C (p.Gly1576Arg)
c.4627G>C (p.Gly1543Arg)
c.4168G>C (p.Gly1390Arg)
c.3307G>C (p.Gly1103Arg)
n.5108G>C
n.5112G>C
1g.1050491G=CA1148751072AGRNc.5041G= (p.Gly1681=)
c.4726G= (p.Gly1576=)
c.4627G= (p.Gly1543=)
c.4168G= (p.Gly1390=)
c.3307G= (p.Gly1103=)
n.5108G=
n.5112G=
1g.1050491G>TCA337780046AGRNc.5041G>T (p.Gly1681Trp)
c.4726G>T (p.Gly1576Trp)
c.4627G>T (p.Gly1543Trp)
c.4168G>T (p.Gly1390Trp)
c.3307G>T (p.Gly1103Trp)
n.5108G>T
n.5112G>T
1g.1050492G>ACA337780048AGRNc.5042G>A (p.Gly1681Glu)
c.4727G>A (p.Gly1576Glu)
c.4628G>A (p.Gly1543Glu)
c.4169G>A (p.Gly1390Glu)
c.3308G>A (p.Gly1103Glu)
n.5109G>A
n.5113G>A
1g.1050492G>CCA337780050AGRNc.5042G>C (p.Gly1681Ala)
c.4727G>C (p.Gly1576Ala)
c.4628G>C (p.Gly1543Ala)
c.4169G>C (p.Gly1390Ala)
c.3308G>C (p.Gly1103Ala)
n.5109G>C
n.5113G>C
gnomAD v4
1g.1050492G>TCA337780052AGRNc.5042G>T (p.Gly1681Val)
c.4727G>T (p.Gly1576Val)
c.4628G>T (p.Gly1543Val)
c.4169G>T (p.Gly1390Val)
c.3308G>T (p.Gly1103Val)
n.5109G>T
n.5113G>T
1g.1050493G>ACA415758993AGRNc.5043G>A (p.Gly1681=)
c.4728G>A (p.Gly1576=)
c.4629G>A (p.Gly1543=)
c.4170G>A (p.Gly1390=)
c.3309G>A (p.Gly1103=)
n.5110G>A
n.5114G>A
gnomAD v4
1g.1050493G>CCA415758994AGRNc.5043G>C (p.Gly1681=)
c.4728G>C (p.Gly1576=)
c.4629G>C (p.Gly1543=)
c.4170G>C (p.Gly1390=)
c.3309G>C (p.Gly1103=)
n.5110G>C
n.5114G>C
dbSNP
1g.1050493G=CA1148751076AGRNc.5043G= (p.Gly1681=)
c.4728G= (p.Gly1576=)
c.4629G= (p.Gly1543=)
c.4170G= (p.Gly1390=)
c.3309G= (p.Gly1103=)
n.5110G=
n.5114G=
1g.1050493G>TCA415758995AGRNc.5043G>T (p.Gly1681=)
c.4728G>T (p.Gly1576=)
c.4629G>T (p.Gly1543=)
c.4170G>T (p.Gly1390=)
c.3309G>T (p.Gly1103=)
n.5110G>T
n.5114G>T
1g.1050494C>ACA337780058AGRNc.5044C>A (p.Gln1682Lys)
c.4729C>A (p.Gln1577Lys)
c.4630C>A (p.Gln1544Lys)
c.4171C>A (p.Gln1391Lys)
c.3310C>A (p.Gln1104Lys)
n.5111C>A
n.5115C>A
1g.1050494C>GCA337780054AGRNc.5044C>G (p.Gln1682Glu)
c.4729C>G (p.Gln1577Glu)
c.4630C>G (p.Gln1544Glu)
c.4171C>G (p.Gln1391Glu)
c.3310C>G (p.Gln1104Glu)
n.5111C>G
n.5115C>G
1g.1050494C>TCA337780056AGRNc.5044C>T (p.Gln1682Ter)
c.4729C>T (p.Gln1577Ter)
c.4630C>T (p.Gln1544Ter)
c.4171C>T (p.Gln1391Ter)
c.3310C>T (p.Gln1104Ter)
n.5111C>T
n.5115C>T
gnomAD v4
1g.1050495A>CCA337780060AGRNc.5045A>C (p.Gln1682Pro)
c.4730A>C (p.Gln1577Pro)
c.4631A>C (p.Gln1544Pro)
c.4172A>C (p.Gln1391Pro)
c.3311A>C (p.Gln1104Pro)
n.5112A>C
n.5116A>C
1g.1050495A>GCA337780062AGRNc.5045A>G (p.Gln1682Arg)
c.4730A>G (p.Gln1577Arg)
c.4631A>G (p.Gln1544Arg)
c.4172A>G (p.Gln1391Arg)
c.3311A>G (p.Gln1104Arg)
n.5112A>G
n.5116A>G
1g.1050495A>TCA337780064AGRNc.5045A>T (p.Gln1682Leu)
c.4730A>T (p.Gln1577Leu)
c.4631A>T (p.Gln1544Leu)
c.4172A>T (p.Gln1391Leu)
c.3311A>T (p.Gln1104Leu)
n.5112A>T
n.5116A>T
1g.1050496G>ACA415758999AGRNc.5046G>A (p.Gln1682=)
c.4731G>A (p.Gln1577=)
c.4632G>A (p.Gln1544=)
c.4173G>A (p.Gln1391=)
c.3312G>A (p.Gln1104=)
n.5113G>A
n.5117G>A
1g.1050496G>CCA337780065AGRNc.5046G>C (p.Gln1682His)
c.4731G>C (p.Gln1577His)
c.4632G>C (p.Gln1544His)
c.4173G>C (p.Gln1391His)
c.3312G>C (p.Gln1104His)
n.5113G>C
n.5117G>C
1g.1050496G>TCA337780066AGRNc.5046G>T (p.Gln1682His)
c.4731G>T (p.Gln1577His)
c.4632G>T (p.Gln1544His)
c.4173G>T (p.Gln1391His)
c.3312G>T (p.Gln1104His)
n.5113G>T
n.5117G>T
1g.1050497A>CCA337780067AGRNc.5047A>C (p.Lys1683Gln)
c.4732A>C (p.Lys1578Gln)
c.4633A>C (p.Lys1545Gln)
c.4174A>C (p.Lys1392Gln)
c.3313A>C (p.Lys1105Gln)
n.5114A>C
n.5118A>C
1g.1050497A>GCA337780069AGRNc.5047A>G (p.Lys1683Glu)
c.4732A>G (p.Lys1578Glu)
c.4633A>G (p.Lys1545Glu)
c.4174A>G (p.Lys1392Glu)
c.3313A>G (p.Lys1105Glu)
n.5114A>G
n.5118A>G
1g.1050497A>TCA337780068AGRNc.5047A>T (p.Lys1683Ter)
c.4732A>T (p.Lys1578Ter)
c.4633A>T (p.Lys1545Ter)
c.4174A>T (p.Lys1392Ter)
c.3313A>T (p.Lys1105Ter)
n.5114A>T
n.5118A>T
1g.1050498A=CA1148751087AGRNc.5048A= (p.Lys1683=)
c.4733A= (p.Lys1578=)
c.4634A= (p.Lys1545=)
c.4175A= (p.Lys1392=)
c.3314A= (p.Lys1105=)
n.5115A=
n.5119A=
1g.1050498A>CCA337780071AGRNc.5048A>C (p.Lys1683Thr)
c.4733A>C (p.Lys1578Thr)
c.4634A>C (p.Lys1545Thr)
c.4175A>C (p.Lys1392Thr)
c.3314A>C (p.Lys1105Thr)
n.5115A>C
n.5119A>C
1g.1050498A>GCA337780076AGRNc.5048A>G (p.Lys1683Arg)
c.4733A>G (p.Lys1578Arg)
c.4634A>G (p.Lys1545Arg)
c.4175A>G (p.Lys1392Arg)
c.3314A>G (p.Lys1105Arg)
n.5115A>G
n.5119A>G
1g.1050498A>TCA509829AGRNc.5048A>T (p.Lys1683Met)
c.4733A>T (p.Lys1578Met)
c.4634A>T (p.Lys1545Met)
c.4175A>T (p.Lys1392Met)
c.3314A>T (p.Lys1105Met)
n.5115A>T
n.5119A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050498_1050501delinsAGACCA1148751081AGRNc.5048_5051delinsAGAC (p.Lys1683=)
c.4733_4736delinsAGAC (p.Lys1578=)
c.4634_4637delinsAGAC (p.Lys1545=)
c.4175_4178delinsAGAC (p.Lys1392=)
c.3314_3317delinsAGAC (p.Lys1105=)
n.5115_5118delinsAGAC
n.5119_5122delinsAGAC
1g.1050499G>ACA415759000AGRNc.5049G>A (p.Lys1683=)
c.4734G>A (p.Lys1578=)
c.4635G>A (p.Lys1545=)
c.4176G>A (p.Lys1392=)
c.3315G>A (p.Lys1105=)
n.5116G>A
n.5120G>A
gnomAD v4
1g.1050499G>CCA337780089AGRNc.5049G>C (p.Lys1683Asn)
c.4734G>C (p.Lys1578Asn)
c.4635G>C (p.Lys1545Asn)
c.4176G>C (p.Lys1392Asn)
c.3315G>C (p.Lys1105Asn)
n.5116G>C
n.5120G>C
1g.1050499G>TCA337780091AGRNc.5049G>T (p.Lys1683Asn)
c.4734G>T (p.Lys1578Asn)
c.4635G>T (p.Lys1545Asn)
c.4176G>T (p.Lys1392Asn)
c.3315G>T (p.Lys1105Asn)
n.5116G>T
n.5120G>T
1g.1050500_1050502delCA509830AGRNc.5050_5052del (p.Thr1684del)
c.4735_4737del (p.Thr1579del)
c.4636_4638del (p.Thr1546del)
c.4177_4179del (p.Thr1393del)
c.3316_3318del (p.Thr1106del)
n.5117_5119del
n.5121_5123del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050500A>CCA337780092AGRNc.5050A>C (p.Thr1684Pro)
c.4735A>C (p.Thr1579Pro)
c.4636A>C (p.Thr1546Pro)
c.4177A>C (p.Thr1393Pro)
c.3316A>C (p.Thr1106Pro)
n.5117A>C
n.5121A>C
ClinVar
1g.1050500A>GCA337780093AGRNc.5050A>G (p.Thr1684Ala)
c.4735A>G (p.Thr1579Ala)
c.4636A>G (p.Thr1546Ala)
c.4177A>G (p.Thr1393Ala)
c.3316A>G (p.Thr1106Ala)
n.5117A>G
n.5121A>G
1g.1050500A>TCA337780095AGRNc.5050A>T (p.Thr1684Ser)
c.4735A>T (p.Thr1579Ser)
c.4636A>T (p.Thr1546Ser)
c.4177A>T (p.Thr1393Ser)
c.3316A>T (p.Thr1106Ser)
n.5117A>T
n.5121A>T
1g.1050501C>ACA337780097AGRNc.5051C>A (p.Thr1684Lys)
c.4736C>A (p.Thr1579Lys)
c.4637C>A (p.Thr1546Lys)
c.4178C>A (p.Thr1393Lys)
c.3317C>A (p.Thr1106Lys)
n.5118C>A
n.5122C>A
1g.1050501C=CA1148751095AGRNc.5051C= (p.Thr1684=)
c.4736C= (p.Thr1579=)
c.4637C= (p.Thr1546=)
c.4178C= (p.Thr1393=)
c.3317C= (p.Thr1106=)
n.5118C=
n.5122C=
1g.1050501C>GCA337780099AGRNc.5051C>G (p.Thr1684Arg)
c.4736C>G (p.Thr1579Arg)
c.4637C>G (p.Thr1546Arg)
c.4178C>G (p.Thr1393Arg)
c.3317C>G (p.Thr1106Arg)
n.5118C>G
n.5122C>G
1g.1050501C>TCA509831AGRNc.5051C>T (p.Thr1684Met)
c.4736C>T (p.Thr1579Met)
c.4637C>T (p.Thr1546Met)
c.4178C>T (p.Thr1393Met)
c.3317C>T (p.Thr1106Met)
n.5118C>T
n.5122C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050502G>ACA509832AGRNc.5052G>A (p.Thr1684=)
c.4737G>A (p.Thr1579=)
c.4638G>A (p.Thr1546=)
c.4179G>A (p.Thr1393=)
c.3318G>A (p.Thr1106=)
n.5119G>A
n.5123G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050502G>CCA415759002AGRNc.5052G>C (p.Thr1684=)
c.4737G>C (p.Thr1579=)
c.4638G>C (p.Thr1546=)
c.4179G>C (p.Thr1393=)
c.3318G>C (p.Thr1106=)
n.5119G>C
n.5123G>C
dbSNP gnomAD v3 gnomAD v4
1g.1050502G=CA1142347947AGRNc.5052G= (p.Thr1684=)
c.4737G= (p.Thr1579=)
c.4638G= (p.Thr1546=)
c.4179G= (p.Thr1393=)
c.3318G= (p.Thr1106=)
n.5119G=
n.5123G=
1g.1050502G>TCA415759003AGRNc.5052G>T (p.Thr1684=)
c.4737G>T (p.Thr1579=)
c.4638G>T (p.Thr1546=)
c.4179G>T (p.Thr1393=)
c.3318G>T (p.Thr1106=)
n.5119G>T
n.5123G>T
1g.1050504_1050512delCA2642492246AGRNc.5054_5062del (p.Asp1685_Lys1687del)
c.4739_4747del (p.Asp1580_Lys1582del)
c.4640_4648del (p.Asp1547_Lys1549del)
c.4181_4189del (p.Asp1394_Lys1396del)
c.3320_3328del (p.Asp1107_Lys1109del)
n.5121_5129del
n.5125_5133del
gnomAD v4
1g.1050503G>ACA337780104AGRNc.5053G>A (p.Asp1685Asn)
c.4738G>A (p.Asp1580Asn)
c.4639G>A (p.Asp1547Asn)
c.4180G>A (p.Asp1394Asn)
c.3319G>A (p.Asp1107Asn)
n.5120G>A
n.5124G>A
dbSNP COSMIC
1g.1050503G>CCA337780102AGRNc.5053G>C (p.Asp1685His)
c.4738G>C (p.Asp1580His)
c.4639G>C (p.Asp1547His)
c.4180G>C (p.Asp1394His)
c.3319G>C (p.Asp1107His)
n.5120G>C
n.5124G>C
1g.1050503G=CA1148751110AGRNc.5053G= (p.Asp1685=)
c.4738G= (p.Asp1580=)
c.4639G= (p.Asp1547=)
c.4180G= (p.Asp1394=)
c.3319G= (p.Asp1107=)
n.5120G=
n.5124G=
1g.1050503G>TCA337780106AGRNc.5053G>T (p.Asp1685Tyr)
c.4738G>T (p.Asp1580Tyr)
c.4639G>T (p.Asp1547Tyr)
c.4180G>T (p.Asp1394Tyr)
c.3319G>T (p.Asp1107Tyr)
n.5120G>T
n.5124G>T
1g.1050504A>CCA337780109AGRNc.5054A>C (p.Asp1685Ala)
c.4739A>C (p.Asp1580Ala)
c.4640A>C (p.Asp1547Ala)
c.4181A>C (p.Asp1394Ala)
c.3320A>C (p.Asp1107Ala)
n.5121A>C
n.5125A>C
1g.1050504A>GCA337780110AGRNc.5054A>G (p.Asp1685Gly)
c.4739A>G (p.Asp1580Gly)
c.4640A>G (p.Asp1547Gly)
c.4181A>G (p.Asp1394Gly)
c.3320A>G (p.Asp1107Gly)
n.5121A>G
n.5125A>G
1g.1050504A>TCA337780112AGRNc.5054A>T (p.Asp1685Val)
c.4739A>T (p.Asp1580Val)
c.4640A>T (p.Asp1547Val)
c.4181A>T (p.Asp1394Val)
c.3320A>T (p.Asp1107Val)
n.5121A>T
n.5125A>T
1g.1050505C>ACA337780115AGRNc.5055C>A (p.Asp1685Glu)
c.4740C>A (p.Asp1580Glu)
c.4641C>A (p.Asp1547Glu)
c.4182C>A (p.Asp1394Glu)
c.3321C>A (p.Asp1107Glu)
n.5122C>A
n.5126C>A
1g.1050505C=CA1148751121AGRNc.5055C= (p.Asp1685=)
c.4740C= (p.Asp1580=)
c.4641C= (p.Asp1547=)
c.4182C= (p.Asp1394=)
c.3321C= (p.Asp1107=)
n.5122C=
n.5126C=
1g.1050505C>GCA337780116AGRNc.5055C>G (p.Asp1685Glu)
c.4740C>G (p.Asp1580Glu)
c.4641C>G (p.Asp1547Glu)
c.4182C>G (p.Asp1394Glu)
c.3321C>G (p.Asp1107Glu)
n.5122C>G
n.5126C>G
1g.1050505C>TCA509833AGRNc.5055C>T (p.Asp1685=)
c.4740C>T (p.Asp1580=)
c.4641C>T (p.Asp1547=)
c.4182C>T (p.Asp1394=)
c.3321C>T (p.Asp1107=)
n.5122C>T
n.5126C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050506G>ACA509834AGRNc.5056G>A (p.Gly1686Ser)
c.4741G>A (p.Gly1581Ser)
c.4642G>A (p.Gly1548Ser)
c.4183G>A (p.Gly1395Ser)
c.3322G>A (p.Gly1108Ser)
n.5123G>A
n.5127G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050506G>CCA337780120AGRNc.5056G>C (p.Gly1686Arg)
c.4741G>C (p.Gly1581Arg)
c.4642G>C (p.Gly1548Arg)
c.4183G>C (p.Gly1395Arg)
c.3322G>C (p.Gly1108Arg)
n.5123G>C
n.5127G>C
1g.1050506G=CA1141888199AGRNc.5056G= (p.Gly1686=)
c.4741G= (p.Gly1581=)
c.4642G= (p.Gly1548=)
c.4183G= (p.Gly1395=)
c.3322G= (p.Gly1108=)
n.5123G=
n.5127G=
1g.1050506G>TCA337780122AGRNc.5056G>T (p.Gly1686Cys)
c.4741G>T (p.Gly1581Cys)
c.4642G>T (p.Gly1548Cys)
c.4183G>T (p.Gly1395Cys)
c.3322G>T (p.Gly1108Cys)
n.5123G>T
n.5127G>T
1g.1050507G>ACA337780124AGRNc.5057G>A (p.Gly1686Asp)
c.4742G>A (p.Gly1581Asp)
c.4643G>A (p.Gly1548Asp)
c.4184G>A (p.Gly1395Asp)
c.3323G>A (p.Gly1108Asp)
n.5124G>A
n.5128G>A
dbSNP
1g.1050507G>CCA337780130AGRNc.5057G>C (p.Gly1686Ala)
c.4742G>C (p.Gly1581Ala)
c.4643G>C (p.Gly1548Ala)
c.4184G>C (p.Gly1395Ala)
c.3323G>C (p.Gly1108Ala)
n.5124G>C
n.5128G>C
1g.1050507G=CA1148751136AGRNc.5057G= (p.Gly1686=)
c.4742G= (p.Gly1581=)
c.4643G= (p.Gly1548=)
c.4184G= (p.Gly1395=)
c.3323G= (p.Gly1108=)
n.5124G=
n.5128G=
1g.1050507G>TCA337780132AGRNc.5057G>T (p.Gly1686Val)
c.4742G>T (p.Gly1581Val)
c.4643G>T (p.Gly1548Val)
c.4184G>T (p.Gly1395Val)
c.3323G>T (p.Gly1108Val)
n.5124G>T
n.5128G>T
1g.1050508C>ACA415759010AGRNc.5058C>A (p.Gly1686=)
c.4743C>A (p.Gly1581=)
c.4644C>A (p.Gly1548=)
c.4185C>A (p.Gly1395=)
c.3324C>A (p.Gly1108=)
n.5125C>A
n.5129C>A
1g.1050508C>GCA415759011AGRNc.5058C>G (p.Gly1686=)
c.4743C>G (p.Gly1581=)
c.4644C>G (p.Gly1548=)
c.4185C>G (p.Gly1395=)
c.3324C>G (p.Gly1108=)
n.5125C>G
n.5129C>G
gnomAD v4
1g.1050508C>TCA415759012AGRNc.5058C>T (p.Gly1686=)
c.4743C>T (p.Gly1581=)
c.4644C>T (p.Gly1548=)
c.4185C>T (p.Gly1395=)
c.3324C>T (p.Gly1108=)
n.5125C>T
n.5129C>T
1g.1050509A=CA1148751146AGRNc.5059A= (p.Lys1687=)
c.4744A= (p.Lys1582=)
c.4645A= (p.Lys1549=)
c.4186A= (p.Lys1396=)
c.3325A= (p.Lys1109=)
n.5126A=
n.5130A=
1g.1050509A>CCA337780137AGRNc.5059A>C (p.Lys1687Gln)
c.4744A>C (p.Lys1582Gln)
c.4645A>C (p.Lys1549Gln)
c.4186A>C (p.Lys1396Gln)
c.3325A>C (p.Lys1109Gln)
n.5126A>C
n.5130A>C
1g.1050509A>GCA16701136AGRNc.5059A>G (p.Lys1687Glu)
c.4744A>G (p.Lys1582Glu)
c.4645A>G (p.Lys1549Glu)
c.4186A>G (p.Lys1396Glu)
c.3325A>G (p.Lys1109Glu)
n.5126A>G
n.5130A>G
dbSNP gnomAD v3 gnomAD v4
1g.1050509A>TCA337780135AGRNc.5059A>T (p.Lys1687Ter)
c.4744A>T (p.Lys1582Ter)
c.4645A>T (p.Lys1549Ter)
c.4186A>T (p.Lys1396Ter)
c.3325A>T (p.Lys1109Ter)
n.5126A>T
n.5130A>T
1g.1050510A=CA1148751150AGRNc.5060A= (p.Lys1687=)
c.4745A= (p.Lys1582=)
c.4646A= (p.Lys1549=)
c.4187A= (p.Lys1396=)
c.3326A= (p.Lys1109=)
n.5127A=
n.5131A=
1g.1050510A>CCA337780140AGRNc.5060A>C (p.Lys1687Thr)
c.4745A>C (p.Lys1582Thr)
c.4646A>C (p.Lys1549Thr)
c.4187A>C (p.Lys1396Thr)
c.3326A>C (p.Lys1109Thr)
n.5127A>C
n.5131A>C
1g.1050510A>GCA337780141AGRNc.5060A>G (p.Lys1687Arg)
c.4745A>G (p.Lys1582Arg)
c.4646A>G (p.Lys1549Arg)
c.4187A>G (p.Lys1396Arg)
c.3326A>G (p.Lys1109Arg)
n.5127A>G
n.5131A>G
1g.1050510A>TCA337780143AGRNc.5060A>T (p.Lys1687Met)
c.4745A>T (p.Lys1582Met)
c.4646A>T (p.Lys1549Met)
c.4187A>T (p.Lys1396Met)
c.3326A>T (p.Lys1109Met)
n.5127A>T
n.5131A>T
1g.1050511G>ACA415759014AGRNc.5061G>A (p.Lys1687=)
c.4746G>A (p.Lys1582=)
c.4647G>A (p.Lys1549=)
c.4188G>A (p.Lys1396=)
c.3327G>A (p.Lys1109=)
n.5128G>A
n.5132G>A
dbSNP gnomAD v3 gnomAD v4
1g.1050511G>CCA337780145AGRNc.5061G>C (p.Lys1687Asn)
c.4746G>C (p.Lys1582Asn)
c.4647G>C (p.Lys1549Asn)
c.4188G>C (p.Lys1396Asn)
c.3327G>C (p.Lys1109Asn)
n.5128G>C
n.5132G>C
1g.1050511G=CA1148751160AGRNc.5061G= (p.Lys1687=)
c.4746G= (p.Lys1582=)
c.4647G= (p.Lys1549=)
c.4188G= (p.Lys1396=)
c.3327G= (p.Lys1109=)
n.5128G=
n.5132G=
1g.1050511G>TCA337780147AGRNc.5061G>T (p.Lys1687Asn)
c.4746G>T (p.Lys1582Asn)
c.4647G>T (p.Lys1549Asn)
c.4188G>T (p.Lys1396Asn)
c.3327G>T (p.Lys1109Asn)
n.5128G>T
n.5132G>T
1g.1050512_1050515dupCA520625225AGRNc.5062_5065dup (p.Asp1689GlyfsTer?)
c.4747_4750dup (p.Asp1584GlyfsTer?)
c.4648_4651dup (p.Asp1551GlyfsTer?)
c.4189_4192dup (p.Asp1398GlyfsTer?)
c.3328_3331dup (p.Asp1111GlyfsTer?)
n.5129_5132dup
n.5133_5136dup
dbSNP gnomAD v2 gnomAD v4
1g.1050512G>ACA337780149AGRNc.5062G>A (p.Gly1688Arg)
c.4747G>A (p.Gly1583Arg)
c.4648G>A (p.Gly1550Arg)
c.4189G>A (p.Gly1397Arg)
c.3328G>A (p.Gly1110Arg)
n.5129G>A
n.5133G>A
1g.1050512G>CCA337780151AGRNc.5062G>C (p.Gly1688Arg)
c.4747G>C (p.Gly1583Arg)
c.4648G>C (p.Gly1550Arg)
c.4189G>C (p.Gly1397Arg)
c.3328G>C (p.Gly1110Arg)
n.5129G>C
n.5133G>C
1g.1050512G>TCA337780153AGRNc.5062G>T (p.Gly1688Trp)
c.4747G>T (p.Gly1583Trp)
c.4648G>T (p.Gly1550Trp)
c.4189G>T (p.Gly1397Trp)
c.3328G>T (p.Gly1110Trp)
n.5129G>T
n.5133G>T
1g.1050513G>ACA337780155AGRNc.5063G>A (p.Gly1688Glu)
c.4748G>A (p.Gly1583Glu)
c.4649G>A (p.Gly1550Glu)
c.4190G>A (p.Gly1397Glu)
c.3329G>A (p.Gly1110Glu)
n.5130G>A
n.5134G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1050513G>CCA337780156AGRNc.5063G>C (p.Gly1688Ala)
c.4748G>C (p.Gly1583Ala)
c.4649G>C (p.Gly1550Ala)
c.4190G>C (p.Gly1397Ala)
c.3329G>C (p.Gly1110Ala)
n.5130G>C
n.5134G>C
1g.1050513G=CA1148751166AGRNc.5063G= (p.Gly1688=)
c.4748G= (p.Gly1583=)
c.4649G= (p.Gly1550=)
c.4190G= (p.Gly1397=)
c.3329G= (p.Gly1110=)
n.5130G=
n.5134G=
1g.1050513G>TCA337780158AGRNc.5063G>T (p.Gly1688Val)
c.4748G>T (p.Gly1583Val)
c.4649G>T (p.Gly1550Val)
c.4190G>T (p.Gly1397Val)
c.3329G>T (p.Gly1110Val)
n.5130G>T
n.5134G>T
1g.1050514G>ACA415759018AGRNc.5064G>A (p.Gly1688=)
c.4749G>A (p.Gly1583=)
c.4650G>A (p.Gly1550=)
c.4191G>A (p.Gly1397=)
c.3330G>A (p.Gly1110=)
n.5131G>A
n.5135G>A
gnomAD v4
1g.1050514G>CCA415759019AGRNc.5064G>C (p.Gly1688=)
c.4749G>C (p.Gly1583=)
c.4650G>C (p.Gly1550=)
c.4191G>C (p.Gly1397=)
c.3330G>C (p.Gly1110=)
n.5131G>C
n.5135G>C
1g.1050514G>TCA415759020AGRNc.5064G>T (p.Gly1688=)
c.4749G>T (p.Gly1583=)
c.4650G>T (p.Gly1550=)
c.4191G>T (p.Gly1397=)
c.3330G>T (p.Gly1110=)
n.5131G>T
n.5135G>T
1g.1050515G>ACA337780161AGRNc.5065G>A (p.Asp1689Asn)
c.4750G>A (p.Asp1584Asn)
c.4651G>A (p.Asp1551Asn)
c.4192G>A (p.Asp1398Asn)
c.3331G>A (p.Asp1111Asn)
n.5132G>A
n.5136G>A
1g.1050515G>CCA337780162AGRNc.5065G>C (p.Asp1689His)
c.4750G>C (p.Asp1584His)
c.4651G>C (p.Asp1551His)
c.4192G>C (p.Asp1398His)
c.3331G>C (p.Asp1111His)
n.5132G>C
n.5136G>C
1g.1050515G=CA1148751175AGRNc.5065G= (p.Asp1689=)
c.4750G= (p.Asp1584=)
c.4651G= (p.Asp1551=)
c.4192G= (p.Asp1398=)
c.3331G= (p.Asp1111=)
n.5132G=
n.5136G=
1g.1050515G>TCA337780160AGRNc.5065G>T (p.Asp1689Tyr)
c.4750G>T (p.Asp1584Tyr)
c.4651G>T (p.Asp1551Tyr)
c.4192G>T (p.Asp1398Tyr)
c.3331G>T (p.Asp1111Tyr)
n.5132G>T
n.5136G>T
dbSNP gnomAD v2
1g.1050516A>CCA337780171AGRNc.5066A>C (p.Asp1689Ala)
c.4751A>C (p.Asp1584Ala)
c.4652A>C (p.Asp1551Ala)
c.4193A>C (p.Asp1398Ala)
c.3332A>C (p.Asp1111Ala)
n.5133A>C
n.5137A>C
1g.1050516A>GCA337780173AGRNc.5066A>G (p.Asp1689Gly)
c.4751A>G (p.Asp1584Gly)
c.4652A>G (p.Asp1551Gly)
c.4193A>G (p.Asp1398Gly)
c.3332A>G (p.Asp1111Gly)
n.5133A>G
n.5137A>G
1g.1050516A>TCA337780174AGRNc.5066A>T (p.Asp1689Val)
c.4751A>T (p.Asp1584Val)
c.4652A>T (p.Asp1551Val)
c.4193A>T (p.Asp1398Val)
c.3332A>T (p.Asp1111Val)
n.5133A>T
n.5137A>T
gnomAD v4
1g.1050517C>ACA337780175AGRNc.5067C>A (p.Asp1689Glu)
c.4752C>A (p.Asp1584Glu)
c.4653C>A (p.Asp1551Glu)
c.4194C>A (p.Asp1398Glu)
c.3333C>A (p.Asp1111Glu)
n.5134C>A
n.5138C>A
1g.1050517C>GCA337780176AGRNc.5067C>G (p.Asp1689Glu)
c.4752C>G (p.Asp1584Glu)
c.4653C>G (p.Asp1551Glu)
c.4194C>G (p.Asp1398Glu)
c.3333C>G (p.Asp1111Glu)
n.5134C>G
n.5138C>G
1g.1050517C>TCA415759024AGRNc.5067C>T (p.Asp1689=)
c.4752C>T (p.Asp1584=)
c.4653C>T (p.Asp1551=)
c.4194C>T (p.Asp1398=)
c.3333C>T (p.Asp1111=)
n.5134C>T
n.5138C>T
gnomAD v4
1g.1050518T>ACA337780179AGRNc.5068T>A (p.Phe1690Ile)
c.4753T>A (p.Phe1585Ile)
c.4654T>A (p.Phe1552Ile)
c.4195T>A (p.Phe1399Ile)
c.3334T>A (p.Phe1112Ile)
n.5135T>A
n.5139T>A
1g.1050518T>CCA337780178AGRNc.5068T>C (p.Phe1690Leu)
c.4753T>C (p.Phe1585Leu)
c.4654T>C (p.Phe1552Leu)
c.4195T>C (p.Phe1399Leu)
c.3334T>C (p.Phe1112Leu)
n.5135T>C
n.5139T>C
gnomAD v4
1g.1050518T>GCA337780177AGRNc.5068T>G (p.Phe1690Val)
c.4753T>G (p.Phe1585Val)
c.4654T>G (p.Phe1552Val)
c.4195T>G (p.Phe1399Val)
c.3334T>G (p.Phe1112Val)
n.5135T>G
n.5139T>G
1g.1050518_1050521delinsTTCGCA1148751185AGRNc.5068_5071delinsTTCG (p.Phe1690=)
c.4753_4756delinsTTCG (p.Phe1585=)
c.4654_4657delinsTTCG (p.Phe1552=)
c.4195_4198delinsTTCG (p.Phe1399=)
c.3334_3337delinsTTCG (p.Phe1112=)
n.5135_5138delinsTTCG
n.5139_5142delinsTTCG
1g.1050519T>ACA337780180AGRNc.5069T>A (p.Phe1690Tyr)
c.4754T>A (p.Phe1585Tyr)
c.4655T>A (p.Phe1552Tyr)
c.4196T>A (p.Phe1399Tyr)
c.3335T>A (p.Phe1112Tyr)
n.5136T>A
n.5140T>A
1g.1050519T>CCA337780181AGRNc.5069T>C (p.Phe1690Ser)
c.4754T>C (p.Phe1585Ser)
c.4655T>C (p.Phe1552Ser)
c.4196T>C (p.Phe1399Ser)
c.3335T>C (p.Phe1112Ser)
n.5136T>C
n.5140T>C
1g.1050519T>GCA337780182AGRNc.5069T>G (p.Phe1690Cys)
c.4754T>G (p.Phe1585Cys)
c.4655T>G (p.Phe1552Cys)
c.4196T>G (p.Phe1399Cys)
c.3335T>G (p.Phe1112Cys)
n.5136T>G
n.5140T>G
1g.1050520_1050522delCA520625226AGRNc.5070_5072del (p.Phe1690_Val1691delinsLeu)
c.4755_4757del (p.Phe1585_Val1586delinsLeu)
c.4656_4658del (p.Phe1552_Val1553delinsLeu)
c.4197_4199del (p.Phe1399_Val1400delinsLeu)
c.3336_3338del (p.Phe1112_Val1113delinsLeu)
n.5137_5139del
n.5141_5143del
dbSNP gnomAD v2
1g.1050520C>ACA337780183AGRNc.5070C>A (p.Phe1690Leu)
c.4755C>A (p.Phe1585Leu)
c.4656C>A (p.Phe1552Leu)
c.4197C>A (p.Phe1399Leu)
c.3336C>A (p.Phe1112Leu)
n.5137C>A
n.5141C>A
gnomAD v4
1g.1050520C=CA1140465422AGRNc.5070C= (p.Phe1690=)
c.4755C= (p.Phe1585=)
c.4656C= (p.Phe1552=)
c.4197C= (p.Phe1399=)
c.3336C= (p.Phe1112=)
n.5137C=
n.5141C=
1g.1050520C>GCA509835AGRNc.5070C>G (p.Phe1690Leu)
c.4755C>G (p.Phe1585Leu)
c.4656C>G (p.Phe1552Leu)
c.4197C>G (p.Phe1399Leu)
c.3336C>G (p.Phe1112Leu)
n.5137C>G
n.5141C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050520C>TCA151672AGRNc.5070C>T (p.Phe1690=)
c.4755C>T (p.Phe1585=)
c.4656C>T (p.Phe1552=)
c.4197C>T (p.Phe1399=)
c.3336C>T (p.Phe1112=)
n.5137C>T
n.5141C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050521G>ACA509836AGRNc.5071G>A (p.Val1691Met)
c.4756G>A (p.Val1586Met)
c.4657G>A (p.Val1553Met)
c.4198G>A (p.Val1400Met)
c.3337G>A (p.Val1113Met)
n.5138G>A
n.5142G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050521G>CCA337780185AGRNc.5071G>C (p.Val1691Leu)
c.4756G>C (p.Val1586Leu)
c.4657G>C (p.Val1553Leu)
c.4198G>C (p.Val1400Leu)
c.3337G>C (p.Val1113Leu)
n.5138G>C
n.5142G>C
dbSNP gnomAD v2 gnomAD v4
1g.1050521G=CA1148751208AGRNc.5071G= (p.Val1691=)
c.4756G= (p.Val1586=)
c.4657G= (p.Val1553=)
c.4198G= (p.Val1400=)
c.3337G= (p.Val1113=)
n.5138G=
n.5142G=
1g.1050521G>TCA337780184AGRNc.5071G>T (p.Val1691Leu)
c.4756G>T (p.Val1586Leu)
c.4657G>T (p.Val1553Leu)
c.4198G>T (p.Val1400Leu)
c.3337G>T (p.Val1113Leu)
n.5138G>T
n.5142G>T
dbSNP gnomAD v2
1g.1050522T>ACA337780186AGRNc.5072T>A (p.Val1691Glu)
c.4757T>A (p.Val1586Glu)
c.4658T>A (p.Val1553Glu)
c.4199T>A (p.Val1400Glu)
c.3338T>A (p.Val1113Glu)
n.5139T>A
n.5143T>A
1g.1050522T>CCA337780187AGRNc.5072T>C (p.Val1691Ala)
c.4757T>C (p.Val1586Ala)
c.4658T>C (p.Val1553Ala)
c.4199T>C (p.Val1400Ala)
c.3338T>C (p.Val1113Ala)
n.5139T>C
n.5143T>C
1g.1050522T>GCA337780188AGRNc.5072T>G (p.Val1691Gly)
c.4757T>G (p.Val1586Gly)
c.4658T>G (p.Val1553Gly)
c.4199T>G (p.Val1400Gly)
c.3338T>G (p.Val1113Gly)
n.5139T>G
n.5143T>G
1g.1050523G>ACA509837AGRNc.5073G>A (p.Val1691=)
c.4758G>A (p.Val1586=)
c.4659G>A (p.Val1553=)
c.4200G>A (p.Val1400=)
c.3339G>A (p.Val1113=)
n.5140G>A
n.5144G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050523G>CCA415759032AGRNc.5073G>C (p.Val1691=)
c.4758G>C (p.Val1586=)
c.4659G>C (p.Val1553=)
c.4200G>C (p.Val1400=)
c.3339G>C (p.Val1113=)
n.5140G>C
n.5144G>C
1g.1050523G=CA1148751225AGRNc.5073G= (p.Val1691=)
c.4758G= (p.Val1586=)
c.4659G= (p.Val1553=)
c.4200G= (p.Val1400=)
c.3339G= (p.Val1113=)
n.5140G=
n.5144G=
1g.1050523G>TCA415759031AGRNc.5073G>T (p.Val1691=)
c.4758G>T (p.Val1586=)
c.4659G>T (p.Val1553=)
c.4200G>T (p.Val1400=)
c.3339G>T (p.Val1113=)
n.5140G>T
n.5144G>T
1g.1050524T>ACA337780189AGRNc.5074T>A (p.Ser1692Thr)
c.4759T>A (p.Ser1587Thr)
c.4660T>A (p.Ser1554Thr)
c.4201T>A (p.Ser1401Thr)
c.3340T>A (p.Ser1114Thr)
n.5141T>A
n.5145T>A
1g.1050524T>CCA337780190AGRNc.5074T>C (p.Ser1692Pro)
c.4759T>C (p.Ser1587Pro)
c.4660T>C (p.Ser1554Pro)
c.4201T>C (p.Ser1401Pro)
c.3340T>C (p.Ser1114Pro)
n.5141T>C
n.5145T>C
dbSNP
1g.1050524T>GCA337780191AGRNc.5074T>G (p.Ser1692Ala)
c.4759T>G (p.Ser1587Ala)
c.4660T>G (p.Ser1554Ala)
c.4201T>G (p.Ser1401Ala)
c.3340T>G (p.Ser1114Ala)
n.5141T>G
n.5145T>G
1g.1050524T=CA1148751255AGRNc.5074T= (p.Ser1692=)
c.4759T= (p.Ser1587=)
c.4660T= (p.Ser1554=)
c.4201T= (p.Ser1401=)
c.3340T= (p.Ser1114=)
n.5141T=
n.5145T=
1g.1050525C>ACA337780192AGRNc.5075C>A (p.Ser1692Ter)
c.4760C>A (p.Ser1587Ter)
c.4661C>A (p.Ser1554Ter)
c.4202C>A (p.Ser1401Ter)
c.3341C>A (p.Ser1114Ter)
n.5142C>A
n.5146C>A
1g.1050525C=CA1141911029AGRNc.5075C= (p.Ser1692=)
c.4760C= (p.Ser1587=)
c.4661C= (p.Ser1554=)
c.4202C= (p.Ser1401=)
c.3341C= (p.Ser1114=)
n.5142C=
n.5146C=
1g.1050525C>GCA337780193AGRNc.5075C>G (p.Ser1692Trp)
c.4760C>G (p.Ser1587Trp)
c.4661C>G (p.Ser1554Trp)
c.4202C>G (p.Ser1401Trp)
c.3341C>G (p.Ser1114Trp)
n.5142C>G
n.5146C>G
1g.1050525C>TCA509838AGRNc.5075C>T (p.Ser1692Leu)
c.4760C>T (p.Ser1587Leu)
c.4661C>T (p.Ser1554Leu)
c.4202C>T (p.Ser1401Leu)
c.3341C>T (p.Ser1114Leu)
n.5142C>T
n.5146C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050526G>ACA509839AGRNc.5076G>A (p.Ser1692=)
c.4761G>A (p.Ser1587=)
c.4662G>A (p.Ser1554=)
c.4203G>A (p.Ser1401=)
c.3342G>A (p.Ser1114=)
n.5143G>A
n.5147G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050526G>CCA415759035AGRNc.5076G>C (p.Ser1692=)
c.4761G>C (p.Ser1587=)
c.4662G>C (p.Ser1554=)
c.4203G>C (p.Ser1401=)
c.3342G>C (p.Ser1114=)
n.5143G>C
n.5147G>C
gnomAD v4
1g.1050526G=CA1144114687AGRNc.5076G= (p.Ser1692=)
c.4761G= (p.Ser1587=)
c.4662G= (p.Ser1554=)
c.4203G= (p.Ser1401=)
c.3342G= (p.Ser1114=)
n.5143G=
n.5147G=
1g.1050526G>TCA415759036AGRNc.5076G>T (p.Ser1692=)
c.4761G>T (p.Ser1587=)
c.4662G>T (p.Ser1554=)
c.4203G>T (p.Ser1401=)
c.3342G>T (p.Ser1114=)
n.5143G>T
n.5147G>T
1g.1050527C>ACA337780194AGRNc.5077C>A (p.Leu1693Met)
c.4762C>A (p.Leu1588Met)
c.4663C>A (p.Leu1555Met)
c.4204C>A (p.Leu1402Met)
c.3343C>A (p.Leu1115Met)
n.5144C>A
n.5148C>A
1g.1050527C>GCA337780195AGRNc.5077C>G (p.Leu1693Val)
c.4762C>G (p.Leu1588Val)
c.4663C>G (p.Leu1555Val)
c.4204C>G (p.Leu1402Val)
c.3343C>G (p.Leu1115Val)
n.5144C>G
n.5148C>G
1g.1050527C>TCA415759037AGRNc.5077C>T (p.Leu1693=)
c.4762C>T (p.Leu1588=)
c.4663C>T (p.Leu1555=)
c.4204C>T (p.Leu1402=)
c.3343C>T (p.Leu1115=)
n.5144C>T
n.5148C>T
1g.1050528T>ACA337780197AGRNc.5078T>A (p.Leu1693Gln)
c.4763T>A (p.Leu1588Gln)
c.4664T>A (p.Leu1555Gln)
c.4205T>A (p.Leu1402Gln)
c.3344T>A (p.Leu1115Gln)
n.5145T>A
n.5149T>A
1g.1050528T>CCA337780198AGRNc.5078T>C (p.Leu1693Pro)
c.4763T>C (p.Leu1588Pro)
c.4664T>C (p.Leu1555Pro)
c.4205T>C (p.Leu1402Pro)
c.3344T>C (p.Leu1115Pro)
n.5145T>C
n.5149T>C
1g.1050528T>GCA337780196AGRNc.5078T>G (p.Leu1693Arg)
c.4763T>G (p.Leu1588Arg)
c.4664T>G (p.Leu1555Arg)
c.4205T>G (p.Leu1402Arg)
c.3344T>G (p.Leu1115Arg)
n.5145T>G
n.5149T>G

Number of alleles fetched