Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.1051736_1051738delCA2642494912AGRNc.5572_5574del (p.Glu1858del)
c.5269_5271del (p.Glu1757del)
c.5257_5259del (p.Glu1753del)
c.479_481del
c.5170_5172del (p.Glu1724del)
c.5584_5586del (p.Glu1862del)
c.4711_4713del (p.Glu1571del)
c.3850_3852del (p.Glu1284del)
n.5651_5653del
n.5655_5657del
 gnomAD v4
1g.1051736G>ACA16609411AGRNc.5572G>A (p.Glu1858Lys)
c.5269G>A (p.Glu1757Lys)
c.5257G>A (p.Glu1753Lys)
c.479G>A
c.5170G>A (p.Glu1724Lys)
c.5584G>A (p.Glu1862Lys)
c.4711G>A (p.Glu1571Lys)
c.3850G>A (p.Glu1284Lys)
n.5651G>A
n.5655G>A
 ClinVar dbSNP
1g.1051736G>CCA337782489AGRNc.5572G>C (p.Glu1858Gln)
c.5269G>C (p.Glu1757Gln)
c.5257G>C (p.Glu1753Gln)
c.479G>C
c.5170G>C (p.Glu1724Gln)
c.5584G>C (p.Glu1862Gln)
c.4711G>C (p.Glu1571Gln)
c.3850G>C (p.Glu1284Gln)
n.5651G>C
n.5655G>C
1g.1051736G=CA1148758678AGRNc.5572G= (p.Glu1858=)
c.5269G= (p.Glu1757=)
c.5257G= (p.Glu1753=)
c.479G=
c.5170G= (p.Glu1724=)
c.5584G= (p.Glu1862=)
c.4711G= (p.Glu1571=)
c.3850G= (p.Glu1284=)
n.5651G=
n.5655G=
1g.1051736G>TCA337782490AGRNc.5572G>T (p.Glu1858Ter)
c.5269G>T (p.Glu1757Ter)
c.5257G>T (p.Glu1753Ter)
c.479G>T
c.5170G>T (p.Glu1724Ter)
c.5584G>T (p.Glu1862Ter)
c.4711G>T (p.Glu1571Ter)
c.3850G>T (p.Glu1284Ter)
n.5651G>T
n.5655G>T
1g.1051737A>CCA337782492AGRNc.5573A>C (p.Glu1858Ala)
c.5270A>C (p.Glu1757Ala)
c.5258A>C (p.Glu1753Ala)
c.480A>C
c.5171A>C (p.Glu1724Ala)
c.5585A>C (p.Glu1862Ala)
c.4712A>C (p.Glu1571Ala)
c.3851A>C (p.Glu1284Ala)
n.5652A>C
n.5656A>C
1g.1051737A>GCA337782493AGRNc.5573A>G (p.Glu1858Gly)
c.5270A>G (p.Glu1757Gly)
c.5258A>G (p.Glu1753Gly)
c.480A>G
c.5171A>G (p.Glu1724Gly)
c.5585A>G (p.Glu1862Gly)
c.4712A>G (p.Glu1571Gly)
c.3851A>G (p.Glu1284Gly)
n.5652A>G
n.5656A>G
1g.1051737A>TCA337782491AGRNc.5573A>T (p.Glu1858Val)
c.5270A>T (p.Glu1757Val)
c.5258A>T (p.Glu1753Val)
c.480A>T
c.5171A>T (p.Glu1724Val)
c.5585A>T (p.Glu1862Val)
c.4712A>T (p.Glu1571Val)
c.3851A>T (p.Glu1284Val)
n.5652A>T
n.5656A>T
1g.1051738G>ACA415325624AGRNc.5574G>A (p.Glu1858=)
c.5271G>A (p.Glu1757=)
c.5259G>A (p.Glu1753=)
c.481G>A
c.5172G>A (p.Glu1724=)
c.5586G>A (p.Glu1862=)
c.4713G>A (p.Glu1571=)
c.3852G>A (p.Glu1284=)
n.5653G>A
n.5657G>A
1g.1051738G>CCA337782495AGRNc.5574G>C (p.Glu1858Asp)
c.5271G>C (p.Glu1757Asp)
c.5259G>C (p.Glu1753Asp)
c.481G>C
c.5172G>C (p.Glu1724Asp)
c.5586G>C (p.Glu1862Asp)
c.4713G>C (p.Glu1571Asp)
c.3852G>C (p.Glu1284Asp)
n.5653G>C
n.5657G>C
1g.1051738G=CA1148758707AGRNc.5574G= (p.Glu1858=)
c.5271G= (p.Glu1757=)
c.5259G= (p.Glu1753=)
c.481G=
c.5172G= (p.Glu1724=)
c.5586G= (p.Glu1862=)
c.4713G= (p.Glu1571=)
c.3852G= (p.Glu1284=)
n.5653G=
n.5657G=
1g.1051738G>TCA337782497AGRNc.5574G>T (p.Glu1858Asp)
c.5271G>T (p.Glu1757Asp)
c.5259G>T (p.Glu1753Asp)
c.481G>T
c.5172G>T (p.Glu1724Asp)
c.5586G>T (p.Glu1862Asp)
c.4713G>T (p.Glu1571Asp)
c.3852G>T (p.Glu1284Asp)
n.5653G>T
n.5657G>T
 ClinVar dbSNP gnomAD v4
1g.1051739A>CCA337782499AGRNc.5575A>C (p.Lys1859Gln)
c.5272A>C (p.Lys1758Gln)
c.5260A>C (p.Lys1754Gln)
c.482A>C
c.5173A>C (p.Lys1725Gln)
c.5587A>C (p.Lys1863Gln)
c.4714A>C (p.Lys1572Gln)
c.3853A>C (p.Lys1285Gln)
n.5654A>C
n.5658A>C
1g.1051739A>GCA337782501AGRNc.5575A>G (p.Lys1859Glu)
c.5272A>G (p.Lys1758Glu)
c.5260A>G (p.Lys1754Glu)
c.482A>G
c.5173A>G (p.Lys1725Glu)
c.5587A>G (p.Lys1863Glu)
c.4714A>G (p.Lys1572Glu)
c.3853A>G (p.Lys1285Glu)
n.5654A>G
n.5658A>G
1g.1051739A>TCA337782503AGRNc.5575A>T (p.Lys1859Ter)
c.5272A>T (p.Lys1758Ter)
c.5260A>T (p.Lys1754Ter)
c.482A>T
c.5173A>T (p.Lys1725Ter)
c.5587A>T (p.Lys1863Ter)
c.4714A>T (p.Lys1572Ter)
c.3853A>T (p.Lys1285Ter)
n.5654A>T
n.5658A>T
1g.1051739_1051740insTCA645511372AGRNc.5575_5576insT (p.Lys1859IlefsTer12)
c.5272_5273insT (p.Lys1758IlefsTer12)
c.5260_5261insT (p.Lys1754IlefsTer12)
c.482_483insT
c.5173_5174insT (p.Lys1725IlefsTer12)
c.5587_5588insT (p.Lys1863IlefsTer12)
c.4714_4715insT (p.Lys1572IlefsTer12)
c.3853_3854insT (p.Lys1285IlefsTer12)
n.5654_5655insT
n.5658_5659insT
 COSMIC COSMIC
1g.1051740A>CCA337782505AGRNc.5576A>C (p.Lys1859Thr)
c.5273A>C (p.Lys1758Thr)
c.5261A>C (p.Lys1754Thr)
c.483A>C
c.5174A>C (p.Lys1725Thr)
c.5588A>C (p.Lys1863Thr)
c.4715A>C (p.Lys1572Thr)
c.3854A>C (p.Lys1285Thr)
n.5655A>C
n.5659A>C
 gnomAD v4
1g.1051740A>GCA337782507AGRNc.5576A>G (p.Lys1859Arg)
c.5273A>G (p.Lys1758Arg)
c.5261A>G (p.Lys1754Arg)
c.483A>G
c.5174A>G (p.Lys1725Arg)
c.5588A>G (p.Lys1863Arg)
c.4715A>G (p.Lys1572Arg)
c.3854A>G (p.Lys1285Arg)
n.5655A>G
n.5659A>G
1g.1051740A>TCA337782509AGRNc.5576A>T (p.Lys1859Met)
c.5273A>T (p.Lys1758Met)
c.5261A>T (p.Lys1754Met)
c.483A>T
c.5174A>T (p.Lys1725Met)
c.5588A>T (p.Lys1863Met)
c.4715A>T (p.Lys1572Met)
c.3854A>T (p.Lys1285Met)
n.5655A>T
n.5659A>T
1g.1051741G>ACA415325636AGRNc.5577G>A (p.Lys1859=)
c.5274G>A (p.Lys1758=)
c.5262G>A (p.Lys1754=)
c.484G>A
c.5175G>A (p.Lys1725=)
c.5589G>A (p.Lys1863=)
c.4716G>A (p.Lys1572=)
c.3855G>A (p.Lys1285=)
n.5656G>A
n.5660G>A
1g.1051741G>CCA337782511AGRNc.5577G>C (p.Lys1859Asn)
c.5274G>C (p.Lys1758Asn)
c.5262G>C (p.Lys1754Asn)
c.484G>C
c.5175G>C (p.Lys1725Asn)
c.5589G>C (p.Lys1863Asn)
c.4716G>C (p.Lys1572Asn)
c.3855G>C (p.Lys1285Asn)
n.5656G>C
n.5660G>C
1g.1051741G=CA1148758720AGRNc.5577G= (p.Lys1859=)
c.5274G= (p.Lys1758=)
c.5262G= (p.Lys1754=)
c.484G=
c.5175G= (p.Lys1725=)
c.5589G= (p.Lys1863=)
c.4716G= (p.Lys1572=)
c.3855G= (p.Lys1285=)
n.5656G=
n.5660G=
1g.1051741G>TCA16702728AGRNc.5577G>T (p.Lys1859Asn)
c.5274G>T (p.Lys1758Asn)
c.5262G>T (p.Lys1754Asn)
c.484G>T
c.5175G>T (p.Lys1725Asn)
c.5589G>T (p.Lys1863Asn)
c.4716G>T (p.Lys1572Asn)
c.3855G>T (p.Lys1285Asn)
n.5656G>T
n.5660G>T
 dbSNP gnomAD v4
1g.1051742T>ACA337782515AGRNc.5578T>A (p.Ser1860Thr)
c.5275T>A (p.Ser1759Thr)
c.5263T>A (p.Ser1755Thr)
c.485T>A
c.5176T>A (p.Ser1726Thr)
c.5590T>A (p.Ser1864Thr)
c.4717T>A (p.Ser1573Thr)
c.3856T>A (p.Ser1286Thr)
n.5657T>A
n.5661T>A
 gnomAD v4
1g.1051742T>CCA337782517AGRNc.5578T>C (p.Ser1860Pro)
c.5275T>C (p.Ser1759Pro)
c.5263T>C (p.Ser1755Pro)
c.485T>C
c.5176T>C (p.Ser1726Pro)
c.5590T>C (p.Ser1864Pro)
c.4717T>C (p.Ser1573Pro)
c.3856T>C (p.Ser1286Pro)
n.5657T>C
n.5661T>C
1g.1051742T>GCA337782519AGRNc.5578T>G (p.Ser1860Ala)
c.5275T>G (p.Ser1759Ala)
c.5263T>G (p.Ser1755Ala)
c.485T>G
c.5176T>G (p.Ser1726Ala)
c.5590T>G (p.Ser1864Ala)
c.4717T>G (p.Ser1573Ala)
c.3856T>G (p.Ser1286Ala)
n.5657T>G
n.5661T>G
 dbSNP gnomAD v3 gnomAD v4
1g.1051742T=CA1148758734AGRNc.5578T= (p.Ser1860=)
c.5275T= (p.Ser1759=)
c.5263T= (p.Ser1755=)
c.485T=
c.5176T= (p.Ser1726=)
c.5590T= (p.Ser1864=)
c.4717T= (p.Ser1573=)
c.3856T= (p.Ser1286=)
n.5657T=
n.5661T=
1g.1051743C>ACA337782524AGRNc.5579C>A (p.Ser1860Ter)
c.5276C>A (p.Ser1759Ter)
c.5264C>A (p.Ser1755Ter)
c.486C>A
c.5177C>A (p.Ser1726Ter)
c.5591C>A (p.Ser1864Ter)
c.4718C>A (p.Ser1573Ter)
c.3857C>A (p.Ser1286Ter)
n.5658C>A
n.5662C>A
1g.1051743C>GCA337782523AGRNc.5579C>G (p.Ser1860Ter)
c.5276C>G (p.Ser1759Ter)
c.5264C>G (p.Ser1755Ter)
c.486C>G
c.5177C>G (p.Ser1726Ter)
c.5591C>G (p.Ser1864Ter)
c.4718C>G (p.Ser1573Ter)
c.3857C>G (p.Ser1286Ter)
n.5658C>G
n.5662C>G
1g.1051743C>TCA337782521AGRNc.5579C>T (p.Ser1860Leu)
c.5276C>T (p.Ser1759Leu)
c.5264C>T (p.Ser1755Leu)
c.486C>T
c.5177C>T (p.Ser1726Leu)
c.5591C>T (p.Ser1864Leu)
c.4718C>T (p.Ser1573Leu)
c.3857C>T (p.Ser1286Leu)
n.5658C>T
n.5662C>T
 gnomAD v4
1g.1051744A>CCA415325653AGRNc.5580A>C (p.Ser1860=)
c.5277A>C (p.Ser1759=)
c.5265A>C (p.Ser1755=)
c.487A>C
c.5178A>C (p.Ser1726=)
c.5592A>C (p.Ser1864=)
c.4719A>C (p.Ser1573=)
c.3858A>C (p.Ser1286=)
n.5659A>C
n.5663A>C
1g.1051744A>GCA415325650AGRNc.5580A>G (p.Ser1860=)
c.5277A>G (p.Ser1759=)
c.5265A>G (p.Ser1755=)
c.487A>G
c.5178A>G (p.Ser1726=)
c.5592A>G (p.Ser1864=)
c.4719A>G (p.Ser1573=)
c.3858A>G (p.Ser1286=)
n.5659A>G
n.5663A>G
1g.1051744A>TCA415325648AGRNc.5580A>T (p.Ser1860=)
c.5277A>T (p.Ser1759=)
c.5265A>T (p.Ser1755=)
c.487A>T
c.5178A>T (p.Ser1726=)
c.5592A>T (p.Ser1864=)
c.4719A>T (p.Ser1573=)
c.3858A>T (p.Ser1286=)
n.5659A>T
n.5663A>T
1g.1051745G>ACA337782525AGRNc.5581G>A (p.Ala1861Thr)
c.5278G>A (p.Ala1760Thr)
c.5266G>A (p.Ala1756Thr)
c.488G>A
c.5179G>A (p.Ala1727Thr)
c.5593G>A (p.Ala1865Thr)
c.4720G>A (p.Ala1574Thr)
c.3859G>A (p.Ala1287Thr)
n.5660G>A
n.5664G>A
1g.1051745G>CCA510094AGRNc.5581G>C (p.Ala1861Pro)
c.5278G>C (p.Ala1760Pro)
c.5266G>C (p.Ala1756Pro)
c.488G>C
c.5179G>C (p.Ala1727Pro)
c.5593G>C (p.Ala1865Pro)
c.4720G>C (p.Ala1574Pro)
c.3859G>C (p.Ala1287Pro)
n.5660G>C
n.5664G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1051745G=CA1148758744AGRNc.5581G= (p.Ala1861=)
c.5278G= (p.Ala1760=)
c.5266G= (p.Ala1756=)
c.488G=
c.5179G= (p.Ala1727=)
c.5593G= (p.Ala1865=)
c.4720G= (p.Ala1574=)
c.3859G= (p.Ala1287=)
n.5660G=
n.5664G=
1g.1051745G>TCA337782528AGRNc.5581G>T (p.Ala1861Ser)
c.5278G>T (p.Ala1760Ser)
c.5266G>T (p.Ala1756Ser)
c.488G>T
c.5179G>T (p.Ala1727Ser)
c.5593G>T (p.Ala1865Ser)
c.4720G>T (p.Ala1574Ser)
c.3859G>T (p.Ala1287Ser)
n.5660G>T
n.5664G>T
1g.1051746C>ACA337782530AGRNc.5582C>A (p.Ala1861Glu)
c.5279C>A (p.Ala1760Glu)
c.5267C>A (p.Ala1756Glu)
c.489C>A
c.5180C>A (p.Ala1727Glu)
c.5594C>A (p.Ala1865Glu)
c.4721C>A (p.Ala1574Glu)
c.3860C>A (p.Ala1287Glu)
n.5661C>A
n.5665C>A
1g.1051746C=CA1141596421AGRNc.5582C= (p.Ala1861=)
c.5279C= (p.Ala1760=)
c.5267C= (p.Ala1756=)
c.489C=
c.5180C= (p.Ala1727=)
c.5594C= (p.Ala1865=)
c.4721C= (p.Ala1574=)
c.3860C= (p.Ala1287=)
n.5661C=
n.5665C=
1g.1051746C>GCA337782531AGRNc.5582C>G (p.Ala1861Gly)
c.5279C>G (p.Ala1760Gly)
c.5267C>G (p.Ala1756Gly)
c.489C>G
c.5180C>G (p.Ala1727Gly)
c.5594C>G (p.Ala1865Gly)
c.4721C>G (p.Ala1574Gly)
c.3860C>G (p.Ala1287Gly)
n.5661C>G
n.5665C>G
 gnomAD v4
1g.1051746C>TCA510095AGRNc.5582C>T (p.Ala1861Val)
c.5279C>T (p.Ala1760Val)
c.5267C>T (p.Ala1756Val)
c.489C>T
c.5180C>T (p.Ala1727Val)
c.5594C>T (p.Ala1865Val)
c.4721C>T (p.Ala1574Val)
c.3860C>T (p.Ala1287Val)
n.5661C>T
n.5665C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1051747G>ACA510096AGRNc.5583G>A (p.Ala1861=)
c.5280G>A (p.Ala1760=)
c.5268G>A (p.Ala1756=)
c.490G>A
c.5181G>A (p.Ala1727=)
c.5595G>A (p.Ala1865=)
c.4722G>A (p.Ala1574=)
c.3861G>A (p.Ala1287=)
n.5662G>A
n.5666G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1051747G>CCA415325662AGRNc.5583G>C (p.Ala1861=)
c.5280G>C (p.Ala1760=)
c.5268G>C (p.Ala1756=)
c.490G>C
c.5181G>C (p.Ala1727=)
c.5595G>C (p.Ala1865=)
c.4722G>C (p.Ala1574=)
c.3861G>C (p.Ala1287=)
n.5662G>C
n.5666G>C
 dbSNP gnomAD v2 gnomAD v4
1g.1051747G=CA1148758757AGRNc.5583G= (p.Ala1861=)
c.5280G= (p.Ala1760=)
c.5268G= (p.Ala1756=)
c.490G=
c.5181G= (p.Ala1727=)
c.5595G= (p.Ala1865=)
c.4722G= (p.Ala1574=)
c.3861G= (p.Ala1287=)
n.5662G=
n.5666G=
1g.1051747G>TCA415325663AGRNc.5583G>T (p.Ala1861=)
c.5280G>T (p.Ala1760=)
c.5268G>T (p.Ala1756=)
c.490G>T
c.5181G>T (p.Ala1727=)
c.5595G>T (p.Ala1865=)
c.4722G>T (p.Ala1574=)
c.3861G>T (p.Ala1287=)
n.5662G>T
n.5666G>T
 gnomAD v4
1g.1051751dupCA645511373AGRNc.5587dup (p.Asp1863GlyfsTer8)
c.5284dup (p.Asp1762GlyfsTer8)
c.5272dup (p.Asp1758GlyfsTer8)
c.494dup
c.5185dup (p.Asp1729GlyfsTer8)
c.5599dup (p.Asp1867GlyfsTer8)
c.4726dup (p.Asp1576GlyfsTer8)
c.3865dup (p.Asp1289GlyfsTer8)
n.5666dup
n.5670dup
 COSMIC
1g.1051748G>ACA337782533AGRNc.5584G>A (p.Gly1862Arg)
c.5281G>A (p.Gly1761Arg)
c.5269G>A (p.Gly1757Arg)
c.491G>A
c.5182G>A (p.Gly1728Arg)
c.5596G>A (p.Gly1866Arg)
c.4723G>A (p.Gly1575Arg)
c.3862G>A (p.Gly1288Arg)
n.5663G>A
n.5667G>A
 gnomAD v4
1g.1051748G>CCA337782534AGRNc.5584G>C (p.Gly1862Arg)
c.5281G>C (p.Gly1761Arg)
c.5269G>C (p.Gly1757Arg)
c.491G>C
c.5182G>C (p.Gly1728Arg)
c.5596G>C (p.Gly1866Arg)
c.4723G>C (p.Gly1575Arg)
c.3862G>C (p.Gly1288Arg)
n.5663G>C
n.5667G>C
1g.1051748G>TCA337782535AGRNc.5584G>T (p.Gly1862Trp)
c.5281G>T (p.Gly1761Trp)
c.5269G>T (p.Gly1757Trp)
c.491G>T
c.5182G>T (p.Gly1728Trp)
c.5596G>T (p.Gly1866Trp)
c.4723G>T (p.Gly1575Trp)
c.3862G>T (p.Gly1288Trp)
n.5663G>T
n.5667G>T
1g.1051749G>ACA337782538AGRNc.5585G>A (p.Gly1862Glu)
c.5282G>A (p.Gly1761Glu)
c.5270G>A (p.Gly1757Glu)
c.492G>A
c.5183G>A (p.Gly1728Glu)
c.5597G>A (p.Gly1866Glu)
c.4724G>A (p.Gly1575Glu)
c.3863G>A (p.Gly1288Glu)
n.5664G>A
n.5668G>A
1g.1051749G>CCA337782540AGRNc.5585G>C (p.Gly1862Ala)
c.5282G>C (p.Gly1761Ala)
c.5270G>C (p.Gly1757Ala)
c.492G>C
c.5183G>C (p.Gly1728Ala)
c.5597G>C (p.Gly1866Ala)
c.4724G>C (p.Gly1575Ala)
c.3863G>C (p.Gly1288Ala)
n.5664G>C
n.5668G>C
1g.1051749G>TCA337782542AGRNc.5585G>T (p.Gly1862Val)
c.5282G>T (p.Gly1761Val)
c.5270G>T (p.Gly1757Val)
c.492G>T
c.5183G>T (p.Gly1728Val)
c.5597G>T (p.Gly1866Val)
c.4724G>T (p.Gly1575Val)
c.3863G>T (p.Gly1288Val)
n.5664G>T
n.5668G>T
1g.1051750G>ACA415325675AGRNc.5586G>A (p.Gly1862=)
c.5283G>A (p.Gly1761=)
c.5271G>A (p.Gly1757=)
c.493G>A
c.5184G>A (p.Gly1728=)
c.5598G>A (p.Gly1866=)
c.4725G>A (p.Gly1575=)
c.3864G>A (p.Gly1288=)
n.5665G>A
n.5669G>A
1g.1051750G>CCA415325677AGRNc.5586G>C (p.Gly1862=)
c.5283G>C (p.Gly1761=)
c.5271G>C (p.Gly1757=)
c.493G>C
c.5184G>C (p.Gly1728=)
c.5598G>C (p.Gly1866=)
c.4725G>C (p.Gly1575=)
c.3864G>C (p.Gly1288=)
n.5665G>C
n.5669G>C
 gnomAD v4
1g.1051750G>TCA415325678AGRNc.5586G>T (p.Gly1862=)
c.5283G>T (p.Gly1761=)
c.5271G>T (p.Gly1757=)
c.493G>T
c.5184G>T (p.Gly1728=)
c.5598G>T (p.Gly1866=)
c.4725G>T (p.Gly1575=)
c.3864G>T (p.Gly1288=)
n.5665G>T
n.5669G>T
1g.1051751G>ACA337782544AGRNc.5587G>A (p.Asp1863Asn)
c.5284G>A (p.Asp1762Asn)
c.5272G>A (p.Asp1758Asn)
c.494G>A
c.5185G>A (p.Asp1729Asn)
c.5599G>A (p.Asp1867Asn)
c.4726G>A (p.Asp1576Asn)
c.3865G>A (p.Asp1289Asn)
n.5666G>A
n.5670G>A
 gnomAD v4
1g.1051751G>CCA337782546AGRNc.5587G>C (p.Asp1863His)
c.5284G>C (p.Asp1762His)
c.5272G>C (p.Asp1758His)
c.494G>C
c.5185G>C (p.Asp1729His)
c.5599G>C (p.Asp1867His)
c.4726G>C (p.Asp1576His)
c.3865G>C (p.Asp1289His)
n.5666G>C
n.5670G>C
 gnomAD v4
1g.1051751G>TCA337782545AGRNc.5587G>T (p.Asp1863Tyr)
c.5284G>T (p.Asp1762Tyr)
c.5272G>T (p.Asp1758Tyr)
c.494G>T
c.5185G>T (p.Asp1729Tyr)
c.5599G>T (p.Asp1867Tyr)
c.4726G>T (p.Asp1576Tyr)
c.3865G>T (p.Asp1289Tyr)
n.5666G>T
n.5670G>T
1g.1051752A>CCA337782548AGRNc.5588A>C (p.Asp1863Ala)
c.5285A>C (p.Asp1762Ala)
c.5273A>C (p.Asp1758Ala)
c.495A>C
c.5186A>C (p.Asp1729Ala)
c.5600A>C (p.Asp1867Ala)
c.4727A>C (p.Asp1576Ala)
c.3866A>C (p.Asp1289Ala)
n.5667A>C
n.5671A>C
1g.1051752A>GCA337782551AGRNc.5588A>G (p.Asp1863Gly)
c.5285A>G (p.Asp1762Gly)
c.5273A>G (p.Asp1758Gly)
c.495A>G
c.5186A>G (p.Asp1729Gly)
c.5600A>G (p.Asp1867Gly)
c.4727A>G (p.Asp1576Gly)
c.3866A>G (p.Asp1289Gly)
n.5667A>G
n.5671A>G
1g.1051752A>TCA337782550AGRNc.5588A>T (p.Asp1863Val)
c.5285A>T (p.Asp1762Val)
c.5273A>T (p.Asp1758Val)
c.495A>T
c.5186A>T (p.Asp1729Val)
c.5600A>T (p.Asp1867Val)
c.4727A>T (p.Asp1576Val)
c.3866A>T (p.Asp1289Val)
n.5667A>T
n.5671A>T
1g.1051752_1051753insGCA415325694AGRNc.5588_5589insG (p.Asp1863GlufsTer8)
c.5285_5286insG (p.Asp1762GlufsTer8)
c.5273_5274insG (p.Asp1758GlufsTer8)
c.495_496insG
c.5186_5187insG (p.Asp1729GlufsTer8)
c.5600_5601insG (p.Asp1867GlufsTer8)
c.4727_4728insG (p.Asp1576GlufsTer8)
c.3866_3867insG (p.Asp1289GlufsTer8)
n.5667_5668insG
n.5671_5672insG
1g.1051753C>ACA337782553AGRNc.5589C>A (p.Asp1863Glu)
c.5286C>A (p.Asp1762Glu)
c.5274C>A (p.Asp1758Glu)
c.496C>A
c.5187C>A (p.Asp1729Glu)
c.5601C>A (p.Asp1867Glu)
c.4728C>A (p.Asp1576Glu)
c.3867C>A (p.Asp1289Glu)
n.5668C>A
n.5672C>A
1g.1051753C=CA1142218849AGRNc.5589C= (p.Asp1863=)
c.5286C= (p.Asp1762=)
c.5274C= (p.Asp1758=)
c.496C=
c.5187C= (p.Asp1729=)
c.5601C= (p.Asp1867=)
c.4728C= (p.Asp1576=)
c.3867C= (p.Asp1289=)
n.5668C=
n.5672C=
1g.1051753C>GCA337782556AGRNc.5589C>G (p.Asp1863Glu)
c.5286C>G (p.Asp1762Glu)
c.5274C>G (p.Asp1758Glu)
c.496C>G
c.5187C>G (p.Asp1729Glu)
c.5601C>G (p.Asp1867Glu)
c.4728C>G (p.Asp1576Glu)
c.3867C>G (p.Asp1289Glu)
n.5668C>G
n.5672C>G
1g.1051753C>TCA510097AGRNc.5589C>T (p.Asp1863=)
c.5286C>T (p.Asp1762=)
c.5274C>T (p.Asp1758=)
c.496C>T
c.5187C>T (p.Asp1729=)
c.5601C>T (p.Asp1867=)
c.4728C>T (p.Asp1576=)
c.3867C>T (p.Asp1289=)
n.5668C>T
n.5672C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1051754G>ACA510098AGRNc.5590G>A (p.Val1864Met)
c.5287G>A (p.Val1763Met)
c.5275G>A (p.Val1759Met)
c.497G>A
c.5188G>A (p.Val1730Met)
c.5602G>A (p.Val1868Met)
c.4729G>A (p.Val1577Met)
c.3868G>A (p.Val1290Met)
n.5669G>A
n.5673G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1051754G>CCA337782559AGRNc.5590G>C (p.Val1864Leu)
c.5287G>C (p.Val1763Leu)
c.5275G>C (p.Val1759Leu)
c.497G>C
c.5188G>C (p.Val1730Leu)
c.5602G>C (p.Val1868Leu)
c.4729G>C (p.Val1577Leu)
c.3868G>C (p.Val1290Leu)
n.5669G>C
n.5673G>C
 gnomAD v4
1g.1051754G=CA1148758780AGRNc.5590G= (p.Val1864=)
c.5287G= (p.Val1763=)
c.5275G= (p.Val1759=)
c.497G=
c.5188G= (p.Val1730=)
c.5602G= (p.Val1868=)
c.4729G= (p.Val1577=)
c.3868G= (p.Val1290=)
n.5669G=
n.5673G=
1g.1051754G>TCA337782561AGRNc.5590G>T (p.Val1864Leu)
c.5287G>T (p.Val1763Leu)
c.5275G>T (p.Val1759Leu)
c.497G>T
c.5188G>T (p.Val1730Leu)
c.5602G>T (p.Val1868Leu)
c.4729G>T (p.Val1577Leu)
c.3868G>T (p.Val1290Leu)
n.5669G>T
n.5673G>T
1g.1051755T>ACA337782563AGRNc.5591T>A (p.Val1864Glu)
c.5288T>A (p.Val1763Glu)
c.5276T>A (p.Val1759Glu)
c.498T>A
c.5189T>A (p.Val1730Glu)
c.5603T>A (p.Val1868Glu)
c.4730T>A (p.Val1577Glu)
c.3869T>A (p.Val1290Glu)
n.5670T>A
n.5674T>A
1g.1051755T>CCA337782564AGRNc.5591T>C (p.Val1864Ala)
c.5288T>C (p.Val1763Ala)
c.5276T>C (p.Val1759Ala)
c.498T>C
c.5189T>C (p.Val1730Ala)
c.5603T>C (p.Val1868Ala)
c.4730T>C (p.Val1577Ala)
c.3869T>C (p.Val1290Ala)
n.5670T>C
n.5674T>C
 gnomAD v4
1g.1051755T>GCA337782567AGRNc.5591T>G (p.Val1864Gly)
c.5288T>G (p.Val1763Gly)
c.5276T>G (p.Val1759Gly)
c.498T>G
c.5189T>G (p.Val1730Gly)
c.5603T>G (p.Val1868Gly)
c.4730T>G (p.Val1577Gly)
c.3869T>G (p.Val1290Gly)
n.5670T>G
n.5674T>G
1g.1051756G>ACA415325700AGRNc.5592G>A (p.Val1864=)
c.5289G>A (p.Val1763=)
c.5277G>A (p.Val1759=)
c.499G>A
c.5190G>A (p.Val1730=)
c.5604G>A (p.Val1868=)
c.4731G>A (p.Val1577=)
c.3870G>A (p.Val1290=)
n.5671G>A
n.5675G>A
1g.1051756G>CCA510099AGRNc.5592G>C (p.Val1864=)
c.5289G>C (p.Val1763=)
c.5277G>C (p.Val1759=)
c.499G>C
c.5190G>C (p.Val1730=)
c.5604G>C (p.Val1868=)
c.4731G>C (p.Val1577=)
c.3870G>C (p.Val1290=)
n.5671G>C
n.5675G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.1051756G=CA1148730286AGRNc.5592G= (p.Val1864=)
c.5289G= (p.Val1763=)
c.5277G= (p.Val1759=)
c.499G=
c.5190G= (p.Val1730=)
c.5604G= (p.Val1868=)
c.4731G= (p.Val1577=)
c.3870G= (p.Val1290=)
n.5671G=
n.5675G=
1g.1051756G>TCA415325702AGRNc.5592G>T (p.Val1864=)
c.5289G>T (p.Val1763=)
c.5277G>T (p.Val1759=)
c.499G>T
c.5190G>T (p.Val1730=)
c.5604G>T (p.Val1868=)
c.4731G>T (p.Val1577=)
c.3870G>T (p.Val1290=)
n.5671G>T
n.5675G>T
1g.1051757G>ACA337782569AGRNc.5593G>A (p.Asp1865Asn)
c.5290G>A (p.Asp1764Asn)
c.5278G>A (p.Asp1760Asn)
c.500G>A
c.5191G>A (p.Asp1731Asn)
c.5605G>A (p.Asp1869Asn)
c.4732G>A (p.Asp1578Asn)
c.3871G>A (p.Asp1291Asn)
n.5672G>A
n.5676G>A
1g.1051757G>CCA510100AGRNc.5593G>C (p.Asp1865His)
c.5290G>C (p.Asp1764His)
c.5278G>C (p.Asp1760His)
c.500G>C
c.5191G>C (p.Asp1731His)
c.5605G>C (p.Asp1869His)
c.4732G>C (p.Asp1578His)
c.3871G>C (p.Asp1291His)
n.5672G>C
n.5676G>C
 dbSNP ExAC COSMIC
1g.1051757G=CA1148758807AGRNc.5593G= (p.Asp1865=)
c.5290G= (p.Asp1764=)
c.5278G= (p.Asp1760=)
c.500G=
c.5191G= (p.Asp1731=)
c.5605G= (p.Asp1869=)
c.4732G= (p.Asp1578=)
c.3871G= (p.Asp1291=)
n.5672G=
n.5676G=
1g.1051757G>TCA337782570AGRNc.5593G>T (p.Asp1865Tyr)
c.5290G>T (p.Asp1764Tyr)
c.5278G>T (p.Asp1760Tyr)
c.500G>T
c.5191G>T (p.Asp1731Tyr)
c.5605G>T (p.Asp1869Tyr)
c.4732G>T (p.Asp1578Tyr)
c.3871G>T (p.Asp1291Tyr)
n.5672G>T
n.5676G>T
1g.1051758A>CCA337782574AGRNc.5594A>C (p.Asp1865Ala)
c.5291A>C (p.Asp1764Ala)
c.5279A>C (p.Asp1760Ala)
c.501A>C
c.5192A>C (p.Asp1731Ala)
c.5606A>C (p.Asp1869Ala)
c.4733A>C (p.Asp1578Ala)
c.3872A>C (p.Asp1291Ala)
n.5673A>C
n.5677A>C
1g.1051758A>GCA337782572AGRNc.5594A>G (p.Asp1865Gly)
c.5291A>G (p.Asp1764Gly)
c.5279A>G (p.Asp1760Gly)
c.501A>G
c.5192A>G (p.Asp1731Gly)
c.5606A>G (p.Asp1869Gly)
c.4733A>G (p.Asp1578Gly)
c.3872A>G (p.Asp1291Gly)
n.5673A>G
n.5677A>G
1g.1051758A>TCA337782571AGRNc.5594A>T (p.Asp1865Val)
c.5291A>T (p.Asp1764Val)
c.5279A>T (p.Asp1760Val)
c.501A>T
c.5192A>T (p.Asp1731Val)
c.5606A>T (p.Asp1869Val)
c.4733A>T (p.Asp1578Val)
c.3872A>T (p.Asp1291Val)
n.5673A>T
n.5677A>T
1g.1051759T>ACA337782576AGRNc.5595T>A (p.Asp1865Glu)
c.5292T>A (p.Asp1764Glu)
c.5280T>A (p.Asp1760Glu)
c.502T>A
c.5193T>A (p.Asp1731Glu)
c.5607T>A (p.Asp1869Glu)
c.4734T>A (p.Asp1578Glu)
c.3873T>A (p.Asp1291Glu)
n.5674T>A
n.5678T>A
1g.1051759T>CCA415325709AGRNc.5595T>C (p.Asp1865=)
c.5292T>C (p.Asp1764=)
c.5280T>C (p.Asp1760=)
c.502T>C
c.5193T>C (p.Asp1731=)
c.5607T>C (p.Asp1869=)
c.4734T>C (p.Asp1578=)
c.3873T>C (p.Asp1291=)
n.5674T>C
n.5678T>C
1g.1051759T>GCA337782577AGRNc.5595T>G (p.Asp1865Glu)
c.5292T>G (p.Asp1764Glu)
c.5280T>G (p.Asp1760Glu)
c.502T>G
c.5193T>G (p.Asp1731Glu)
c.5607T>G (p.Asp1869Glu)
c.4734T>G (p.Asp1578Glu)
c.3873T>G (p.Asp1291Glu)
n.5674T>G
n.5678T>G
1g.1051760A=CA1148758822AGRNc.5596A= (p.Thr1866=)
c.5293A= (p.Thr1765=)
c.5281A= (p.Thr1761=)
c.503A=
c.5194A= (p.Thr1732=)
c.5608A= (p.Thr1870=)
c.4735A= (p.Thr1579=)
c.3874A= (p.Thr1292=)
n.5675A=
n.5679A=
1g.1051760A>CCA337782579AGRNc.5596A>C (p.Thr1866Pro)
c.5293A>C (p.Thr1765Pro)
c.5281A>C (p.Thr1761Pro)
c.503A>C
c.5194A>C (p.Thr1732Pro)
c.5608A>C (p.Thr1870Pro)
c.4735A>C (p.Thr1579Pro)
c.3874A>C (p.Thr1292Pro)
n.5675A>C
n.5679A>C
1g.1051760A>GCA337782581AGRNc.5596A>G (p.Thr1866Ala)
c.5293A>G (p.Thr1765Ala)
c.5281A>G (p.Thr1761Ala)
c.503A>G
c.5194A>G (p.Thr1732Ala)
c.5608A>G (p.Thr1870Ala)
c.4735A>G (p.Thr1579Ala)
c.3874A>G (p.Thr1292Ala)
n.5675A>G
n.5679A>G
1g.1051760A>TCA510101AGRNc.5596A>T (p.Thr1866Ser)
c.5293A>T (p.Thr1765Ser)
c.5281A>T (p.Thr1761Ser)
c.503A>T
c.5194A>T (p.Thr1732Ser)
c.5608A>T (p.Thr1870Ser)
c.4735A>T (p.Thr1579Ser)
c.3874A>T (p.Thr1292Ser)
n.5675A>T
n.5679A>T
 dbSNP ExAC gnomAD v4
1g.1051761C>ACA16702831AGRNc.5597C>A (p.Thr1866Asn)
c.5294C>A (p.Thr1765Asn)
c.5282C>A (p.Thr1761Asn)
c.504C>A
c.5195C>A (p.Thr1732Asn)
c.5609C>A (p.Thr1870Asn)
c.4736C>A (p.Thr1579Asn)
c.3875C>A (p.Thr1292Asn)
n.5676C>A
n.5680C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1051761C=CA1148758829AGRNc.5597C= (p.Thr1866=)
c.5294C= (p.Thr1765=)
c.5282C= (p.Thr1761=)
c.504C=
c.5195C= (p.Thr1732=)
c.5609C= (p.Thr1870=)
c.4736C= (p.Thr1579=)
c.3875C= (p.Thr1292=)
n.5676C=
n.5680C=
1g.1051761C>GCA337782585AGRNc.5597C>G (p.Thr1866Ser)
c.5294C>G (p.Thr1765Ser)
c.5282C>G (p.Thr1761Ser)
c.504C>G
c.5195C>G (p.Thr1732Ser)
c.5609C>G (p.Thr1870Ser)
c.4736C>G (p.Thr1579Ser)
c.3875C>G (p.Thr1292Ser)
n.5676C>G
n.5680C>G
1g.1051761C>TCA337782587AGRNc.5597C>T (p.Thr1866Ile)
c.5294C>T (p.Thr1765Ile)
c.5282C>T (p.Thr1761Ile)
c.504C>T
c.5195C>T (p.Thr1732Ile)
c.5609C>T (p.Thr1870Ile)
c.4736C>T (p.Thr1579Ile)
c.3875C>T (p.Thr1292Ile)
n.5676C>T
n.5680C>T
 dbSNP gnomAD v4
1g.1051762C>ACA415325713AGRNc.5598C>A (p.Thr1866=)
c.5295C>A (p.Thr1765=)
c.5283C>A (p.Thr1761=)
c.505C>A
c.5196C>A (p.Thr1732=)
c.5610C>A (p.Thr1870=)
c.4737C>A (p.Thr1579=)
c.3876C>A (p.Thr1292=)
n.5677C>A
n.5681C>A
 gnomAD v4
1g.1051762C=CA1140474419AGRNc.5598C= (p.Thr1866=)
c.5295C= (p.Thr1765=)
c.5283C= (p.Thr1761=)
c.505C=
c.5196C= (p.Thr1732=)
c.5610C= (p.Thr1870=)
c.4737C= (p.Thr1579=)
c.3876C= (p.Thr1292=)
n.5677C=
n.5681C=
1g.1051762C>GCA415325715AGRNc.5598C>G (p.Thr1866=)
c.5295C>G (p.Thr1765=)
c.5283C>G (p.Thr1761=)
c.505C>G
c.5196C>G (p.Thr1732=)
c.5610C>G (p.Thr1870=)
c.4737C>G (p.Thr1579=)
c.3876C>G (p.Thr1292=)
n.5677C>G
n.5681C>G
1g.1051762C>TCA151678AGRNc.5598C>T (p.Thr1866=)
c.5295C>T (p.Thr1765=)
c.5283C>T (p.Thr1761=)
c.505C>T
c.5196C>T (p.Thr1732=)
c.5610C>T (p.Thr1870=)
c.4737C>T (p.Thr1579=)
c.3876C>T (p.Thr1292=)
n.5677C>T
n.5681C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1051763T>ACA337782591AGRNc.5599T>A (p.Leu1867Met)
c.5296T>A (p.Leu1766Met)
c.5284T>A (p.Leu1762Met)
c.506T>A
c.5197T>A (p.Leu1733Met)
c.5611T>A (p.Leu1871Met)
c.4738T>A (p.Leu1580Met)
c.3877T>A (p.Leu1293Met)
n.5678T>A
n.5682T>A
1g.1051763T>CCA415325730AGRNc.5599T>C (p.Leu1867=)
c.5296T>C (p.Leu1766=)
c.5284T>C (p.Leu1762=)
c.506T>C
c.5197T>C (p.Leu1733=)
c.5611T>C (p.Leu1871=)
c.4738T>C (p.Leu1580=)
c.3877T>C (p.Leu1293=)
n.5678T>C
n.5682T>C
1g.1051763T>GCA337782592AGRNc.5599T>G (p.Leu1867Val)
c.5296T>G (p.Leu1766Val)
c.5284T>G (p.Leu1762Val)
c.506T>G
c.5197T>G (p.Leu1733Val)
c.5611T>G (p.Leu1871Val)
c.4738T>G (p.Leu1580Val)
c.3877T>G (p.Leu1293Val)
n.5678T>G
n.5682T>G
1g.1051763T=CA1148758840AGRNc.5599T= (p.Leu1867=)
c.5296T= (p.Leu1766=)
c.5284T= (p.Leu1762=)
c.506T=
c.5197T= (p.Leu1733=)
c.5611T= (p.Leu1871=)
c.4738T= (p.Leu1580=)
c.3877T= (p.Leu1293=)
n.5678T=
n.5682T=
1g.1051763_1051764insCAACA510102AGRNc.5599_5600insCAA (p.Leu1867delinsSerMet)
c.5296_5297insCAA (p.Leu1766delinsSerMet)
c.5284_5285insCAA (p.Leu1762delinsSerMet)
c.506_507insCAA
c.5197_5198insCAA (p.Leu1733delinsSerMet)
c.5611_5612insCAA (p.Leu1871delinsSerMet)
c.4738_4739insCAA (p.Leu1580delinsSerMet)
c.3877_3878insCAA (p.Leu1293delinsSerMet)
n.5678_5679insCAA
n.5682_5683insCAA
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1051764T>ACA337782595AGRNc.5600T>A (p.Leu1867Ter)
c.5297T>A (p.Leu1766Ter)
c.5285T>A (p.Leu1762Ter)
c.507T>A
c.5198T>A (p.Leu1733Ter)
c.5612T>A (p.Leu1871Ter)
c.4739T>A (p.Leu1580Ter)
c.3878T>A (p.Leu1293Ter)
n.5679T>A
n.5683T>A
1g.1051764T>CCA337782597AGRNc.5600T>C (p.Leu1867Ser)
c.5297T>C (p.Leu1766Ser)
c.5285T>C (p.Leu1762Ser)
c.507T>C
c.5198T>C (p.Leu1733Ser)
c.5612T>C (p.Leu1871Ser)
c.4739T>C (p.Leu1580Ser)
c.3878T>C (p.Leu1293Ser)
n.5679T>C
n.5683T>C
 gnomAD v4
1g.1051764T>GCA510103AGRNc.5600T>G (p.Leu1867Trp)
c.5297T>G (p.Leu1766Trp)
c.5285T>G (p.Leu1762Trp)
c.507T>G
c.5198T>G (p.Leu1733Trp)
c.5612T>G (p.Leu1871Trp)
c.4739T>G (p.Leu1580Trp)
c.3878T>G (p.Leu1293Trp)
n.5679T>G
n.5683T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1051764T=CA1148758845AGRNc.5600T= (p.Leu1867=)
c.5297T= (p.Leu1766=)
c.5285T= (p.Leu1762=)
c.507T=
c.5198T= (p.Leu1733=)
c.5612T= (p.Leu1871=)
c.4739T= (p.Leu1580=)
c.3878T= (p.Leu1293=)
n.5679T=
n.5683T=
1g.1051765G>ACA415325738AGRNc.5601G>A (p.Leu1867=)
c.5298G>A (p.Leu1766=)
c.5286G>A (p.Leu1762=)
c.508G>A
c.5199G>A (p.Leu1733=)
c.5613G>A (p.Leu1871=)
c.4740G>A (p.Leu1580=)
c.3879G>A (p.Leu1293=)
n.5680G>A
n.5684G>A
 dbSNP gnomAD v3 gnomAD v4
1g.1051765G>CCA337782599AGRNc.5601G>C (p.Leu1867Phe)
c.5298G>C (p.Leu1766Phe)
c.5286G>C (p.Leu1762Phe)
c.508G>C
c.5199G>C (p.Leu1733Phe)
c.5613G>C (p.Leu1871Phe)
c.4740G>C (p.Leu1580Phe)
c.3879G>C (p.Leu1293Phe)
n.5680G>C
n.5684G>C
1g.1051765G=CA1148758850AGRNc.5601G= (p.Leu1867=)
c.5298G= (p.Leu1766=)
c.5286G= (p.Leu1762=)
c.508G=
c.5199G= (p.Leu1733=)
c.5613G= (p.Leu1871=)
c.4740G= (p.Leu1580=)
c.3879G= (p.Leu1293=)
n.5680G=
n.5684G=
1g.1051765G>TCA337782601AGRNc.5601G>T (p.Leu1867Phe)
c.5298G>T (p.Leu1766Phe)
c.5286G>T (p.Leu1762Phe)
c.508G>T
c.5199G>T (p.Leu1733Phe)
c.5613G>T (p.Leu1871Phe)
c.4740G>T (p.Leu1580Phe)
c.3879G>T (p.Leu1293Phe)
n.5680G>T
n.5684G>T
1g.1051766G>ACA337782603AGRNc.5602G>A (p.Ala1868Thr)
c.5299G>A (p.Ala1767Thr)
c.5287G>A (p.Ala1763Thr)
c.509G>A
c.5200G>A (p.Ala1734Thr)
c.5614G>A (p.Ala1872Thr)
c.4741G>A (p.Ala1581Thr)
c.3880G>A (p.Ala1294Thr)
n.5681G>A
n.5685G>A
1g.1051766G>CCA337782605AGRNc.5602G>C (p.Ala1868Pro)
c.5299G>C (p.Ala1767Pro)
c.5287G>C (p.Ala1763Pro)
c.509G>C
c.5200G>C (p.Ala1734Pro)
c.5614G>C (p.Ala1872Pro)
c.4741G>C (p.Ala1581Pro)
c.3880G>C (p.Ala1294Pro)
n.5681G>C
n.5685G>C
1g.1051766G>TCA337782606AGRNc.5602G>T (p.Ala1868Ser)
c.5299G>T (p.Ala1767Ser)
c.5287G>T (p.Ala1763Ser)
c.509G>T
c.5200G>T (p.Ala1734Ser)
c.5614G>T (p.Ala1872Ser)
c.4741G>T (p.Ala1581Ser)
c.3880G>T (p.Ala1294Ser)
n.5681G>T
n.5685G>T
1g.1051767C>ACA337782607AGRNc.5603C>A (p.Ala1868Asp)
c.5300C>A (p.Ala1767Asp)
c.5288C>A (p.Ala1763Asp)
c.510C>A
c.5201C>A (p.Ala1734Asp)
c.5615C>A (p.Ala1872Asp)
c.4742C>A (p.Ala1581Asp)
c.3881C>A (p.Ala1294Asp)
n.5682C>A
n.5686C>A
 dbSNP
1g.1051767C=CA1148758856AGRNc.5603C= (p.Ala1868=)
c.5300C= (p.Ala1767=)
c.5288C= (p.Ala1763=)
c.510C=
c.5201C= (p.Ala1734=)
c.5615C= (p.Ala1872=)
c.4742C= (p.Ala1581=)
c.3881C= (p.Ala1294=)
n.5682C=
n.5686C=
1g.1051767C>GCA337782608AGRNc.5603C>G (p.Ala1868Gly)
c.5300C>G (p.Ala1767Gly)
c.5288C>G (p.Ala1763Gly)
c.510C>G
c.5201C>G (p.Ala1734Gly)
c.5615C>G (p.Ala1872Gly)
c.4742C>G (p.Ala1581Gly)
c.3881C>G (p.Ala1294Gly)
n.5682C>G
n.5686C>G
1g.1051767C>TCA337782609AGRNc.5603C>T (p.Ala1868Val)
c.5300C>T (p.Ala1767Val)
c.5288C>T (p.Ala1763Val)
c.510C>T
c.5201C>T (p.Ala1734Val)
c.5615C>T (p.Ala1872Val)
c.4742C>T (p.Ala1581Val)
c.3881C>T (p.Ala1294Val)
n.5682C>T
n.5686C>T
 gnomAD v4
1g.1051768C>ACA415325763AGRNc.5604C>A (p.Ala1868=)
c.5301C>A (p.Ala1767=)
c.5289C>A (p.Ala1763=)
c.511C>A
c.5202C>A (p.Ala1734=)
c.5616C>A (p.Ala1872=)
c.4743C>A (p.Ala1581=)
c.3882C>A (p.Ala1294=)
n.5683C>A
n.5687C>A
 COSMIC
1g.1051768C=CA1148758863AGRNc.5604C= (p.Ala1868=)
c.5301C= (p.Ala1767=)
c.5289C= (p.Ala1763=)
c.511C=
c.5202C= (p.Ala1734=)
c.5616C= (p.Ala1872=)
c.4743C= (p.Ala1581=)
c.3882C= (p.Ala1294=)
n.5683C=
n.5687C=
1g.1051768C>GCA415325755AGRNc.5604C>G (p.Ala1868=)
c.5301C>G (p.Ala1767=)
c.5289C>G (p.Ala1763=)
c.511C>G
c.5202C>G (p.Ala1734=)
c.5616C>G (p.Ala1872=)
c.4743C>G (p.Ala1581=)
c.3882C>G (p.Ala1294=)
n.5683C>G
n.5687C>G
1g.1051768C>TCA510104AGRNc.5604C>T (p.Ala1868=)
c.5301C>T (p.Ala1767=)
c.5289C>T (p.Ala1763=)
c.511C>T
c.5202C>T (p.Ala1734=)
c.5616C>T (p.Ala1872=)
c.4743C>T (p.Ala1581=)
c.3882C>T (p.Ala1294=)
n.5683C>T
n.5687C>T
 dbSNP ExAC gnomAD v2
1g.1051769T>ACA337782611AGRNc.5605T>A (p.Phe1869Ile)
c.5302T>A (p.Phe1768Ile)
c.5290T>A (p.Phe1764Ile)
c.512T>A
c.5203T>A (p.Phe1735Ile)
c.5617T>A (p.Phe1873Ile)
c.4744T>A (p.Phe1582Ile)
c.3883T>A (p.Phe1295Ile)
n.5684T>A
n.5688T>A
1g.1051769T>CCA337782612AGRNc.5605T>C (p.Phe1869Leu)
c.5302T>C (p.Phe1768Leu)
c.5290T>C (p.Phe1764Leu)
c.512T>C
c.5203T>C (p.Phe1735Leu)
c.5617T>C (p.Phe1873Leu)
c.4744T>C (p.Phe1582Leu)
c.3883T>C (p.Phe1295Leu)
n.5684T>C
n.5688T>C
 gnomAD v4
1g.1051769T>GCA337782614AGRNc.5605T>G (p.Phe1869Val)
c.5302T>G (p.Phe1768Val)
c.5290T>G (p.Phe1764Val)
c.512T>G
c.5203T>G (p.Phe1735Val)
c.5617T>G (p.Phe1873Val)
c.4744T>G (p.Phe1582Val)
c.3883T>G (p.Phe1295Val)
n.5684T>G
n.5688T>G
1g.1051770T>ACA337782616AGRNc.5606T>A (p.Phe1869Tyr)
c.5303T>A (p.Phe1768Tyr)
c.5291T>A (p.Phe1764Tyr)
c.513T>A
c.5204T>A (p.Phe1735Tyr)
c.5618T>A (p.Phe1873Tyr)
c.4745T>A (p.Phe1582Tyr)
c.3884T>A (p.Phe1295Tyr)
n.5685T>A
n.5689T>A
1g.1051770T>CCA337782619AGRNc.5606T>C (p.Phe1869Ser)
c.5303T>C (p.Phe1768Ser)
c.5291T>C (p.Phe1764Ser)
c.513T>C
c.5204T>C (p.Phe1735Ser)
c.5618T>C (p.Phe1873Ser)
c.4745T>C (p.Phe1582Ser)
c.3884T>C (p.Phe1295Ser)
n.5685T>C
n.5689T>C
1g.1051770T>GCA337782618AGRNc.5606T>G (p.Phe1869Cys)
c.5303T>G (p.Phe1768Cys)
c.5291T>G (p.Phe1764Cys)
c.513T>G
c.5204T>G (p.Phe1735Cys)
c.5618T>G (p.Phe1873Cys)
c.4745T>G (p.Phe1582Cys)
c.3884T>G (p.Phe1295Cys)
n.5685T>G
n.5689T>G
1g.1051771T>ACA337782622AGRNc.5607T>A (p.Phe1869Leu)
c.5304T>A (p.Phe1768Leu)
c.5292T>A (p.Phe1764Leu)
c.514T>A
c.5205T>A (p.Phe1735Leu)
c.5619T>A (p.Phe1873Leu)
c.4746T>A (p.Phe1582Leu)
c.3885T>A (p.Phe1295Leu)
n.5686T>A
n.5690T>A
1g.1051771T>CCA415325781AGRNc.5607T>C (p.Phe1869=)
c.5304T>C (p.Phe1768=)
c.5292T>C (p.Phe1764=)
c.514T>C
c.5205T>C (p.Phe1735=)
c.5619T>C (p.Phe1873=)
c.4746T>C (p.Phe1582=)
c.3885T>C (p.Phe1295=)
n.5686T>C
n.5690T>C
1g.1051771T>GCA337782624AGRNc.5607T>G (p.Phe1869Leu)
c.5304T>G (p.Phe1768Leu)
c.5292T>G (p.Phe1764Leu)
c.514T>G
c.5205T>G (p.Phe1735Leu)
c.5619T>G (p.Phe1873Leu)
c.4746T>G (p.Phe1582Leu)
c.3885T>G (p.Phe1295Leu)
n.5686T>G
n.5690T>G
1g.1051772G>ACA337782626AGRNc.5608G>A (p.Asp1870Asn)
c.5305G>A (p.Asp1769Asn)
c.5293G>A (p.Asp1765Asn)
c.515G>A
c.5206G>A (p.Asp1736Asn)
c.5620G>A (p.Asp1874Asn)
c.4747G>A (p.Asp1583Asn)
c.3886G>A (p.Asp1296Asn)
n.5687G>A
n.5691G>A
 gnomAD v4
1g.1051772G>CCA337782628AGRNc.5608G>C (p.Asp1870His)
c.5305G>C (p.Asp1769His)
c.5293G>C (p.Asp1765His)
c.515G>C
c.5206G>C (p.Asp1736His)
c.5620G>C (p.Asp1874His)
c.4747G>C (p.Asp1583His)
c.3886G>C (p.Asp1296His)
n.5687G>C
n.5691G>C
1g.1051772G>TCA337782630AGRNc.5608G>T (p.Asp1870Tyr)
c.5305G>T (p.Asp1769Tyr)
c.5293G>T (p.Asp1765Tyr)
c.515G>T
c.5206G>T (p.Asp1736Tyr)
c.5620G>T (p.Asp1874Tyr)
c.4747G>T (p.Asp1583Tyr)
c.3886G>T (p.Asp1296Tyr)
n.5687G>T
n.5691G>T
1g.1051773A>CCA337782632AGRNc.5609A>C (p.Asp1870Ala)
c.5306A>C (p.Asp1769Ala)
c.5294A>C (p.Asp1765Ala)
c.516A>C
c.5207A>C (p.Asp1736Ala)
c.5621A>C (p.Asp1874Ala)
c.4748A>C (p.Asp1583Ala)
c.3887A>C (p.Asp1296Ala)
n.5688A>C
n.5692A>C
1g.1051773A>GCA337782634AGRNc.5609A>G (p.Asp1870Gly)
c.5306A>G (p.Asp1769Gly)
c.5294A>G (p.Asp1765Gly)
c.516A>G
c.5207A>G (p.Asp1736Gly)
c.5621A>G (p.Asp1874Gly)
c.4748A>G (p.Asp1583Gly)
c.3887A>G (p.Asp1296Gly)
n.5688A>G
n.5692A>G
1g.1051773A>TCA337782640AGRNc.5609A>T (p.Asp1870Val)
c.5306A>T (p.Asp1769Val)
c.5294A>T (p.Asp1765Val)
c.516A>T
c.5207A>T (p.Asp1736Val)
c.5621A>T (p.Asp1874Val)
c.4748A>T (p.Asp1583Val)
c.3887A>T (p.Asp1296Val)
n.5688A>T
n.5692A>T
1g.1051774C>ACA337782642AGRNc.5610C>A (p.Asp1870Glu)
c.5307C>A (p.Asp1769Glu)
c.5295C>A (p.Asp1765Glu)
c.517C>A
c.5208C>A (p.Asp1736Glu)
c.5622C>A (p.Asp1874Glu)
c.4749C>A (p.Asp1583Glu)
c.3888C>A (p.Asp1296Glu)
n.5689C>A
n.5693C>A
1g.1051774C=CA1144101842AGRNc.5610C= (p.Asp1870=)
c.5307C= (p.Asp1769=)
c.5295C= (p.Asp1765=)
c.517C=
c.5208C= (p.Asp1736=)
c.5622C= (p.Asp1874=)
c.4749C= (p.Asp1583=)
c.3888C= (p.Asp1296=)
n.5689C=
n.5693C=
1g.1051774C>GCA337782643AGRNc.5610C>G (p.Asp1870Glu)
c.5307C>G (p.Asp1769Glu)
c.5295C>G (p.Asp1765Glu)
c.517C>G
c.5208C>G (p.Asp1736Glu)
c.5622C>G (p.Asp1874Glu)
c.4749C>G (p.Asp1583Glu)
c.3888C>G (p.Asp1296Glu)
n.5689C>G
n.5693C>G
1g.1051774C>TCA510105AGRNc.5610C>T (p.Asp1870=)
c.5307C>T (p.Asp1769=)
c.5295C>T (p.Asp1765=)
c.517C>T
c.5208C>T (p.Asp1736=)
c.5622C>T (p.Asp1874=)
c.4749C>T (p.Asp1583=)
c.3888C>T (p.Asp1296=)
n.5689C>T
n.5693C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1051775G>ACA510106AGRNc.5611G>A (p.Gly1871Arg)
c.5308G>A (p.Gly1770Arg)
c.5296G>A (p.Gly1766Arg)
c.518G>A
c.5209G>A (p.Gly1737Arg)
c.5623G>A (p.Gly1875Arg)
c.4750G>A (p.Gly1584Arg)
c.3889G>A (p.Gly1297Arg)
n.5690G>A
n.5694G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.1051775G>CCA337782648AGRNc.5611G>C (p.Gly1871Arg)
c.5308G>C (p.Gly1770Arg)
c.5296G>C (p.Gly1766Arg)
c.518G>C
c.5209G>C (p.Gly1737Arg)
c.5623G>C (p.Gly1875Arg)
c.4750G>C (p.Gly1584Arg)
c.3889G>C (p.Gly1297Arg)
n.5690G>C
n.5694G>C
1g.1051775G=CA1148758874AGRNc.5611G= (p.Gly1871=)
c.5308G= (p.Gly1770=)
c.5296G= (p.Gly1766=)
c.518G=
c.5209G= (p.Gly1737=)
c.5623G= (p.Gly1875=)
c.4750G= (p.Gly1584=)
c.3889G= (p.Gly1297=)
n.5690G=
n.5694G=
1g.1051775G>TCA337782645AGRNc.5611G>T (p.Gly1871Trp)
c.5308G>T (p.Gly1770Trp)
c.5296G>T (p.Gly1766Trp)
c.518G>T
c.5209G>T (p.Gly1737Trp)
c.5623G>T (p.Gly1875Trp)
c.4750G>T (p.Gly1584Trp)
c.3889G>T (p.Gly1297Trp)
n.5690G>T
n.5694G>T
1g.1051776G>ACA337782654AGRNc.5612G>A (p.Gly1871Glu)
c.5309G>A (p.Gly1770Glu)
c.5297G>A (p.Gly1766Glu)
c.519G>A
c.5210G>A (p.Gly1737Glu)
c.5624G>A (p.Gly1875Glu)
c.4751G>A (p.Gly1584Glu)
c.3890G>A (p.Gly1297Glu)
n.5691G>A
n.5695G>A
1g.1051776G>CCA337782650AGRNc.5612G>C (p.Gly1871Ala)
c.5309G>C (p.Gly1770Ala)
c.5297G>C (p.Gly1766Ala)
c.519G>C
c.5210G>C (p.Gly1737Ala)
c.5624G>C (p.Gly1875Ala)
c.4751G>C (p.Gly1584Ala)
c.3890G>C (p.Gly1297Ala)
n.5691G>C
n.5695G>C
1g.1051776G>TCA337782652AGRNc.5612G>T (p.Gly1871Val)
c.5309G>T (p.Gly1770Val)
c.5297G>T (p.Gly1766Val)
c.519G>T
c.5210G>T (p.Gly1737Val)
c.5624G>T (p.Gly1875Val)
c.4751G>T (p.Gly1584Val)
c.3890G>T (p.Gly1297Val)
n.5691G>T
n.5695G>T
1g.1051777G>ACA415325807AGRNc.5613G>A (p.Gly1871=)
c.5310G>A (p.Gly1770=)
c.5298G>A (p.Gly1766=)
c.520G>A
c.5211G>A (p.Gly1737=)
c.5625G>A (p.Gly1875=)
c.4752G>A (p.Gly1584=)
c.3891G>A (p.Gly1297=)
n.5692G>A
n.5696G>A
1g.1051777G>CCA415325809AGRNc.5613G>C (p.Gly1871=)
c.5310G>C (p.Gly1770=)
c.5298G>C (p.Gly1766=)
c.520G>C
c.5211G>C (p.Gly1737=)
c.5625G>C (p.Gly1875=)
c.4752G>C (p.Gly1584=)
c.3891G>C (p.Gly1297=)
n.5692G>C
n.5696G>C
1g.1051777G>TCA415325811AGRNc.5613G>T (p.Gly1871=)
c.5310G>T (p.Gly1770=)
c.5298G>T (p.Gly1766=)
c.520G>T
c.5211G>T (p.Gly1737=)
c.5625G>T (p.Gly1875=)
c.4752G>T (p.Gly1584=)
c.3891G>T (p.Gly1297=)
n.5692G>T
n.5696G>T
1g.1051778C>ACA510107AGRNc.5614C>A (p.Arg1872=)
c.5311C>A (p.Arg1771=)
c.5299C>A (p.Arg1767=)
c.521C>A
c.5212C>A (p.Arg1738=)
c.5626C>A (p.Arg1876=)
c.4753C>A (p.Arg1585=)
c.3892C>A (p.Arg1298=)
n.5693C>A
n.5697C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.1051778C=CA1148758888AGRNc.5614C= (p.Arg1872=)
c.5311C= (p.Arg1771=)
c.5299C= (p.Arg1767=)
c.521C=
c.5212C= (p.Arg1738=)
c.5626C= (p.Arg1876=)
c.4753C= (p.Arg1585=)
c.3892C= (p.Arg1298=)
n.5693C=
n.5697C=
1g.1051778C>GCA337782657AGRNc.5614C>G (p.Arg1872Gly)
c.5311C>G (p.Arg1771Gly)
c.5299C>G (p.Arg1767Gly)
c.521C>G
c.5212C>G (p.Arg1738Gly)
c.5626C>G (p.Arg1876Gly)
c.4753C>G (p.Arg1585Gly)
c.3892C>G (p.Arg1298Gly)
n.5693C>G
n.5697C>G
1g.1051778C>TCA510108AGRNc.5614C>T (p.Arg1872Trp)
c.5311C>T (p.Arg1771Trp)
c.5299C>T (p.Arg1767Trp)
c.521C>T
c.5212C>T (p.Arg1738Trp)
c.5626C>T (p.Arg1876Trp)
c.4753C>T (p.Arg1585Trp)
c.3892C>T (p.Arg1298Trp)
n.5693C>T
n.5697C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.1051779G>ACA510109AGRNc.5615G>A (p.Arg1872Gln)
c.5312G>A (p.Arg1771Gln)
c.5300G>A (p.Arg1767Gln)
c.522G>A
c.5213G>A (p.Arg1738Gln)
c.5627G>A (p.Arg1876Gln)
c.4754G>A (p.Arg1585Gln)
c.3893G>A (p.Arg1298Gln)
n.5694G>A
n.5698G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1051779G>CCA337782660AGRNc.5615G>C (p.Arg1872Pro)
c.5312G>C (p.Arg1771Pro)
c.5300G>C (p.Arg1767Pro)
c.522G>C
c.5213G>C (p.Arg1738Pro)
c.5627G>C (p.Arg1876Pro)
c.4754G>C (p.Arg1585Pro)
c.3893G>C (p.Arg1298Pro)
n.5694G>C
n.5698G>C
1g.1051779G=CA1148758894AGRNc.5615G= (p.Arg1872=)
c.5312G= (p.Arg1771=)
c.5300G= (p.Arg1767=)
c.522G=
c.5213G= (p.Arg1738=)
c.5627G= (p.Arg1876=)
c.4754G= (p.Arg1585=)
c.3893G= (p.Arg1298=)
n.5694G=
n.5698G=
1g.1051779G>TCA337782661AGRNc.5615G>T (p.Arg1872Leu)
c.5312G>T (p.Arg1771Leu)
c.5300G>T (p.Arg1767Leu)
c.522G>T
c.5213G>T (p.Arg1738Leu)
c.5627G>T (p.Arg1876Leu)
c.4754G>T (p.Arg1585Leu)
c.3893G>T (p.Arg1298Leu)
n.5694G>T
n.5698G>T
 dbSNP gnomAD v2 gnomAD v4
1g.1051780G>ACA510110AGRNc.5616G>A (p.Arg1872=)
c.5313G>A (p.Arg1771=)
c.5301G>A (p.Arg1767=)
c.523G>A
c.5214G>A (p.Arg1738=)
c.5628G>A (p.Arg1876=)
c.4755G>A (p.Arg1585=)
c.3894G>A (p.Arg1298=)
n.5695G>A
n.5699G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1051780G>CCA415325816AGRNc.5616G>C (p.Arg1872=)
c.5313G>C (p.Arg1771=)
c.5301G>C (p.Arg1767=)
c.523G>C
c.5214G>C (p.Arg1738=)
c.5628G>C (p.Arg1876=)
c.4755G>C (p.Arg1585=)
c.3894G>C (p.Arg1298=)
n.5695G>C
n.5699G>C
1g.1051780G=CA1148758920AGRNc.5616G= (p.Arg1872=)
c.5313G= (p.Arg1771=)
c.5301G= (p.Arg1767=)
c.523G=
c.5214G= (p.Arg1738=)
c.5628G= (p.Arg1876=)
c.4755G= (p.Arg1585=)
c.3894G= (p.Arg1298=)
n.5695G=
n.5699G=
1g.1051780G>TCA415325817AGRNc.5616G>T (p.Arg1872=)
c.5313G>T (p.Arg1771=)
c.5301G>T (p.Arg1767=)
c.523G>T
c.5214G>T (p.Arg1738=)
c.5628G>T (p.Arg1876=)
c.4755G>T (p.Arg1585=)
c.3894G>T (p.Arg1298=)
n.5695G>T
n.5699G>T
 dbSNP
1g.1051781A=CA1148758933AGRNc.5617A= (p.Thr1873=)
c.5314A= (p.Thr1772=)
c.5302A= (p.Thr1768=)
c.524A=
c.5215A= (p.Thr1739=)
c.5629A= (p.Thr1877=)
c.4756A= (p.Thr1586=)
c.3895A= (p.Thr1299=)
n.5696A=
n.5700A=
1g.1051781A>CCA337782662AGRNc.5617A>C (p.Thr1873Pro)
c.5314A>C (p.Thr1772Pro)
c.5302A>C (p.Thr1768Pro)
c.524A>C
c.5215A>C (p.Thr1739Pro)
c.5629A>C (p.Thr1877Pro)
c.4756A>C (p.Thr1586Pro)
c.3895A>C (p.Thr1299Pro)
n.5696A>C
n.5700A>C
1g.1051781A>GCA337782663AGRNc.5617A>G (p.Thr1873Ala)
c.5314A>G (p.Thr1772Ala)
c.5302A>G (p.Thr1768Ala)
c.524A>G
c.5215A>G (p.Thr1739Ala)
c.5629A>G (p.Thr1877Ala)
c.4756A>G (p.Thr1586Ala)
c.3895A>G (p.Thr1299Ala)
n.5696A>G
n.5700A>G
 gnomAD v4
1g.1051781A>TCA510111AGRNc.5617A>T (p.Thr1873Ser)
c.5314A>T (p.Thr1772Ser)
c.5302A>T (p.Thr1768Ser)
c.524A>T
c.5215A>T (p.Thr1739Ser)
c.5629A>T (p.Thr1877Ser)
c.4756A>T (p.Thr1586Ser)
c.3895A>T (p.Thr1299Ser)
n.5696A>T
n.5700A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1051782C>ACA337782665AGRNc.5618C>A (p.Thr1873Asn)
c.5315C>A (p.Thr1772Asn)
c.5303C>A (p.Thr1768Asn)
c.525C>A
c.5216C>A (p.Thr1739Asn)
c.5630C>A (p.Thr1877Asn)
c.4757C>A (p.Thr1586Asn)
c.3896C>A (p.Thr1299Asn)
n.5697C>A
n.5701C>A
 ClinVar gnomAD v4
1g.1051782C=CA1148758938AGRNc.5618C= (p.Thr1873=)
c.5315C= (p.Thr1772=)
c.5303C= (p.Thr1768=)
c.525C=
c.5216C= (p.Thr1739=)
c.5630C= (p.Thr1877=)
c.4757C= (p.Thr1586=)
c.3896C= (p.Thr1299=)
n.5697C=
n.5701C=
1g.1051782C>GCA337782666AGRNc.5618C>G (p.Thr1873Ser)
c.5315C>G (p.Thr1772Ser)
c.5303C>G (p.Thr1768Ser)
c.525C>G
c.5216C>G (p.Thr1739Ser)
c.5630C>G (p.Thr1877Ser)
c.4757C>G (p.Thr1586Ser)
c.3896C>G (p.Thr1299Ser)
n.5697C>G
n.5701C>G
 ClinVar dbSNP
1g.1051782C>TCA337782664AGRNc.5618C>T (p.Thr1873Ile)
c.5315C>T (p.Thr1772Ile)
c.5303C>T (p.Thr1768Ile)
c.525C>T
c.5216C>T (p.Thr1739Ile)
c.5630C>T (p.Thr1877Ile)
c.4757C>T (p.Thr1586Ile)
c.3896C>T (p.Thr1299Ile)
n.5697C>T
n.5701C>T
1g.1051783C>ACA415325818AGRNc.5619C>A (p.Thr1873=)
c.5316C>A (p.Thr1772=)
c.5304C>A (p.Thr1768=)
c.526C>A
c.5217C>A (p.Thr1739=)
c.5631C>A (p.Thr1877=)
c.4758C>A (p.Thr1586=)
c.3897C>A (p.Thr1299=)
n.5698C>A
n.5702C>A
1g.1051783C>GCA415325819AGRNc.5619C>G (p.Thr1873=)
c.5316C>G (p.Thr1772=)
c.5304C>G (p.Thr1768=)
c.526C>G
c.5217C>G (p.Thr1739=)
c.5631C>G (p.Thr1877=)
c.4758C>G (p.Thr1586=)
c.3897C>G (p.Thr1299=)
n.5698C>G
n.5702C>G
1g.1051783C>TCA415325820AGRNc.5619C>T (p.Thr1873=)
c.5316C>T (p.Thr1772=)
c.5304C>T (p.Thr1768=)
c.526C>T
c.5217C>T (p.Thr1739=)
c.5631C>T (p.Thr1877=)
c.4758C>T (p.Thr1586=)
c.3897C>T (p.Thr1299=)
n.5698C>T
n.5702C>T
 gnomAD v4
1g.1051784T>ACA337782667AGRNc.5620T>A (p.Phe1874Ile)
c.5317T>A (p.Phe1773Ile)
c.5305T>A (p.Phe1769Ile)
c.527T>A
c.5218T>A (p.Phe1740Ile)
c.5632T>A (p.Phe1878Ile)
c.4759T>A (p.Phe1587Ile)
c.3898T>A (p.Phe1300Ile)
n.5699T>A
n.5703T>A
1g.1051784T>CCA337782668AGRNc.5620T>C (p.Phe1874Leu)
c.5317T>C (p.Phe1773Leu)
c.5305T>C (p.Phe1769Leu)
c.527T>C
c.5218T>C (p.Phe1740Leu)
c.5632T>C (p.Phe1878Leu)
c.4759T>C (p.Phe1587Leu)
c.3898T>C (p.Phe1300Leu)
n.5699T>C
n.5703T>C
1g.1051784T>GCA337782669AGRNc.5620T>G (p.Phe1874Val)
c.5317T>G (p.Phe1773Val)
c.5305T>G (p.Phe1769Val)
c.527T>G
c.5218T>G (p.Phe1740Val)
c.5632T>G (p.Phe1878Val)
c.4759T>G (p.Phe1587Val)
c.3898T>G (p.Phe1300Val)
n.5699T>G
n.5703T>G
1g.1051785T>ACA337782670AGRNc.5621T>A (p.Phe1874Tyr)
c.5318T>A (p.Phe1773Tyr)
c.5306T>A (p.Phe1769Tyr)
c.528T>A
c.5219T>A (p.Phe1740Tyr)
c.5633T>A (p.Phe1878Tyr)
c.4760T>A (p.Phe1587Tyr)
c.3899T>A (p.Phe1300Tyr)
n.5700T>A
n.5704T>A
1g.1051785T>CCA337782671AGRNc.5621T>C (p.Phe1874Ser)
c.5318T>C (p.Phe1773Ser)
c.5306T>C (p.Phe1769Ser)
c.528T>C
c.5219T>C (p.Phe1740Ser)
c.5633T>C (p.Phe1878Ser)
c.4760T>C (p.Phe1587Ser)
c.3899T>C (p.Phe1300Ser)
n.5700T>C
n.5704T>C
1g.1051785T>GCA337782672AGRNc.5621T>G (p.Phe1874Cys)
c.5318T>G (p.Phe1773Cys)
c.5306T>G (p.Phe1769Cys)
c.528T>G
c.5219T>G (p.Phe1740Cys)
c.5633T>G (p.Phe1878Cys)
c.4760T>G (p.Phe1587Cys)
c.3899T>G (p.Phe1300Cys)
n.5700T>G
n.5704T>G
1g.1051786T>ACA337782673AGRNc.5622T>A (p.Phe1874Leu)
c.5319T>A (p.Phe1773Leu)
c.5307T>A (p.Phe1769Leu)
c.529T>A
c.5220T>A (p.Phe1740Leu)
c.5634T>A (p.Phe1878Leu)
c.4761T>A (p.Phe1587Leu)
c.3900T>A (p.Phe1300Leu)
n.5701T>A
n.5705T>A
 ClinVar dbSNP
1g.1051786T>CCA415325829AGRNc.5622T>C (p.Phe1874=)
c.5319T>C (p.Phe1773=)
c.5307T>C (p.Phe1769=)
c.529T>C
c.5220T>C (p.Phe1740=)
c.5634T>C (p.Phe1878=)
c.4761T>C (p.Phe1587=)
c.3900T>C (p.Phe1300=)
n.5701T>C
n.5705T>C
1g.1051786T>GCA337782674AGRNc.5622T>G (p.Phe1874Leu)
c.5319T>G (p.Phe1773Leu)
c.5307T>G (p.Phe1769Leu)
c.529T>G
c.5220T>G (p.Phe1740Leu)
c.5634T>G (p.Phe1878Leu)
c.4761T>G (p.Phe1587Leu)
c.3900T>G (p.Phe1300Leu)
n.5701T>G
n.5705T>G
1g.1051786T=CA1148758947AGRNc.5622T= (p.Phe1874=)
c.5319T= (p.Phe1773=)
c.5307T= (p.Phe1769=)
c.529T=
c.5220T= (p.Phe1740=)
c.5634T= (p.Phe1878=)
c.4761T= (p.Phe1587=)
c.3900T= (p.Phe1300=)
n.5701T=
n.5705T=
1g.1051787G>ACA337782675AGRNc.5623G>A (p.Val1875Ile)
c.5320G>A (p.Val1774Ile)
c.5308G>A (p.Val1770Ile)
c.530G>A
c.5221G>A (p.Val1741Ile)
c.5635G>A (p.Val1879Ile)
c.4762G>A (p.Val1588Ile)
c.3901G>A (p.Val1301Ile)
n.5702G>A
n.5706G>A
1g.1051787G>CCA337782676AGRNc.5623G>C (p.Val1875Leu)
c.5320G>C (p.Val1774Leu)
c.5308G>C (p.Val1770Leu)
c.530G>C
c.5221G>C (p.Val1741Leu)
c.5635G>C (p.Val1879Leu)
c.4762G>C (p.Val1588Leu)
c.3901G>C (p.Val1301Leu)
n.5702G>C
n.5706G>C
1g.1051787G>TCA337782677AGRNc.5623G>T (p.Val1875Phe)
c.5320G>T (p.Val1774Phe)
c.5308G>T (p.Val1770Phe)
c.530G>T
c.5221G>T (p.Val1741Phe)
c.5635G>T (p.Val1879Phe)
c.4762G>T (p.Val1588Phe)
c.3901G>T (p.Val1301Phe)
n.5702G>T
n.5706G>T
 COSMIC
1g.1051787_1051790dupCA2642495014AGRNc.5623_5626dup (p.Glu1876GlyfsTer20)
c.5320_5323dup (p.Glu1775GlyfsTer15)
c.5308_5311dup (p.Glu1771GlyfsTer20)
c.530_533dup
c.5221_5224dup (p.Glu1742GlyfsTer15)
c.5635_5638dup (p.Glu1880GlyfsTer15)
c.5635_5638dup (p.Glu1880GlyfsTer20)
c.4762_4765dup (p.Glu1589GlyfsTer20)
c.3901_3904dup (p.Glu1302GlyfsTer20)
n.5702_5705dup
c.5320_5323dup (p.Glu1775GlyfsTer20)
n.5706_5709dup
 gnomAD v4
1g.1051788T>ACA337782678AGRNc.5624T>A (p.Val1875Asp)
c.5321T>A (p.Val1774Asp)
c.5309T>A (p.Val1770Asp)
c.531T>A
c.5222T>A (p.Val1741Asp)
c.5636T>A (p.Val1879Asp)
c.4763T>A (p.Val1588Asp)
c.3902T>A (p.Val1301Asp)
n.5703T>A
n.5707T>A
1g.1051788T>CCA337782679AGRNc.5624T>C (p.Val1875Ala)
c.5321T>C (p.Val1774Ala)
c.5309T>C (p.Val1770Ala)
c.531T>C
c.5222T>C (p.Val1741Ala)
c.5636T>C (p.Val1879Ala)
c.4763T>C (p.Val1588Ala)
c.3902T>C (p.Val1301Ala)
n.5703T>C
n.5707T>C
1g.1051788T>GCA337782680AGRNc.5624T>G (p.Val1875Gly)
c.5321T>G (p.Val1774Gly)
c.5309T>G (p.Val1770Gly)
c.531T>G
c.5222T>G (p.Val1741Gly)
c.5636T>G (p.Val1879Gly)
c.4763T>G (p.Val1588Gly)
c.3902T>G (p.Val1301Gly)
n.5703T>G
n.5707T>G
1g.1051789C>ACA415325844AGRNc.5625C>A (p.Val1875=)
c.5322C>A (p.Val1774=)
c.5310C>A (p.Val1770=)
c.532C>A
c.5223C>A (p.Val1741=)
c.5637C>A (p.Val1879=)
c.4764C>A (p.Val1588=)
c.3903C>A (p.Val1301=)
n.5704C>A
n.5708C>A
 gnomAD v4
1g.1051789C=CA1148758954AGRNc.5625C= (p.Val1875=)
c.5322C= (p.Val1774=)
c.5310C= (p.Val1770=)
c.532C=
c.5223C= (p.Val1741=)
c.5637C= (p.Val1879=)
c.4764C= (p.Val1588=)
c.3903C= (p.Val1301=)
n.5704C=
n.5708C=
1g.1051789C>GCA415325845AGRNc.5625C>G (p.Val1875=)
c.5322C>G (p.Val1774=)
c.5310C>G (p.Val1770=)
c.532C>G
c.5223C>G (p.Val1741=)
c.5637C>G (p.Val1879=)
c.4764C>G (p.Val1588=)
c.3903C>G (p.Val1301=)
n.5704C>G
n.5708C>G
1g.1051789C>TCA510112AGRNc.5625C>T (p.Val1875=)
c.5322C>T (p.Val1774=)
c.5310C>T (p.Val1770=)
c.532C>T
c.5223C>T (p.Val1741=)
c.5637C>T (p.Val1879=)
c.4764C>T (p.Val1588=)
c.3903C>T (p.Val1301=)
n.5704C>T
n.5708C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1051790G>ACA510113AGRNc.5626G>A (p.Glu1876Lys)
c.5323G>A (p.Glu1775Lys)
c.5311G>A (p.Glu1771Lys)
c.533G>A
c.5224G>A (p.Glu1742Lys)
c.5638G>A (p.Glu1880Lys)
c.4765G>A (p.Glu1589Lys)
c.3904G>A (p.Glu1302Lys)
n.5705G>A
n.5709G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1051790G>CCA337782681AGRNc.5626G>C (p.Glu1876Gln)
c.5323G>C (p.Glu1775Gln)
c.5311G>C (p.Glu1771Gln)
c.533G>C
c.5224G>C (p.Glu1742Gln)
c.5638G>C (p.Glu1880Gln)
c.4765G>C (p.Glu1589Gln)
c.3904G>C (p.Glu1302Gln)
n.5705G>C
n.5709G>C
1g.1051790G=CA1143553481AGRNc.5626G= (p.Glu1876=)
c.5323G= (p.Glu1775=)
c.5311G= (p.Glu1771=)
c.533G=
c.5224G= (p.Glu1742=)
c.5638G= (p.Glu1880=)
c.4765G= (p.Glu1589=)
c.3904G= (p.Glu1302=)
n.5705G=
n.5709G=
1g.1051790G>TCA337782682AGRNc.5626G>T (p.Glu1876Ter)
c.5323G>T (p.Glu1775Ter)
c.5311G>T (p.Glu1771Ter)
c.533G>T
c.5224G>T (p.Glu1742Ter)
c.5638G>T (p.Glu1880Ter)
c.4765G>T (p.Glu1589Ter)
c.3904G>T (p.Glu1302Ter)
n.5705G>T
n.5709G>T
1g.1051791A>CCA337782683AGRNc.5627A>C (p.Glu1876Ala)
c.5324A>C (p.Glu1775Ala)
c.5312A>C (p.Glu1771Ala)
c.534A>C
c.5225A>C (p.Glu1742Ala)
c.5639A>C (p.Glu1880Ala)
c.4766A>C (p.Glu1589Ala)
c.3905A>C (p.Glu1302Ala)
n.5706A>C
n.5710A>C
1g.1051791A>GCA337782684AGRNc.5627A>G (p.Glu1876Gly)
c.5324A>G (p.Glu1775Gly)
c.5312A>G (p.Glu1771Gly)
c.534A>G
c.5225A>G (p.Glu1742Gly)
c.5639A>G (p.Glu1880Gly)
c.4766A>G (p.Glu1589Gly)
c.3905A>G (p.Glu1302Gly)
n.5706A>G
n.5710A>G
1g.1051791A>TCA337782685AGRNc.5627A>T (p.Glu1876Val)
c.5324A>T (p.Glu1775Val)
c.5312A>T (p.Glu1771Val)
c.534A>T
c.5225A>T (p.Glu1742Val)
c.5639A>T (p.Glu1880Val)
c.4766A>T (p.Glu1589Val)
c.3905A>T (p.Glu1302Val)
n.5706A>T
n.5710A>T
1g.1051792G>ACA415325851AGRNc.5628G>A (p.Glu1876=)
c.5325G>A (p.Glu1775=)
c.5313G>A (p.Glu1771=)
c.535G>A
c.5226G>A (p.Glu1742=)
c.5640G>A (p.Glu1880=)
c.4767G>A (p.Glu1589=)
c.3906G>A (p.Glu1302=)
n.5707G>A
n.5711G>A
 dbSNP gnomAD v2 gnomAD v4
1g.1051792G>CCA337782686AGRNc.5628G>C (p.Glu1876Asp)
c.5325G>C (p.Glu1775Asp)
c.5313G>C (p.Glu1771Asp)
c.535G>C
c.5226G>C (p.Glu1742Asp)
c.5640G>C (p.Glu1880Asp)
c.4767G>C (p.Glu1589Asp)
c.3906G>C (p.Glu1302Asp)
n.5707G>C
n.5711G>C
1g.1051792G=CA1148758987AGRNc.5628G= (p.Glu1876=)
c.5325G= (p.Glu1775=)
c.5313G= (p.Glu1771=)
c.535G=
c.5226G= (p.Glu1742=)
c.5640G= (p.Glu1880=)
c.4767G= (p.Glu1589=)
c.3906G= (p.Glu1302=)
n.5707G=
n.5711G=
1g.1051792G>TCA337782687AGRNc.5628G>T (p.Glu1876Asp)
c.5325G>T (p.Glu1775Asp)
c.5313G>T (p.Glu1771Asp)
c.535G>T
c.5226G>T (p.Glu1742Asp)
c.5640G>T (p.Glu1880Asp)
c.4767G>T (p.Glu1589Asp)
c.3906G>T (p.Glu1302Asp)
n.5707G>T
n.5711G>T
1g.1051793T>ACA337782688AGRNc.5629T>A (p.Tyr1877Asn)
c.5326T>A (p.Tyr1776Asn)
c.5314T>A (p.Tyr1772Asn)
c.536T>A
c.5227T>A (p.Tyr1743Asn)
c.5641T>A (p.Tyr1881Asn)
c.4768T>A (p.Tyr1590Asn)
c.3907T>A (p.Tyr1303Asn)
n.5708T>A
n.5712T>A
1g.1051793T>CCA337782689AGRNc.5629T>C (p.Tyr1877His)
c.5326T>C (p.Tyr1776His)
c.5314T>C (p.Tyr1772His)
c.536T>C
c.5227T>C (p.Tyr1743His)
c.5641T>C (p.Tyr1881His)
c.4768T>C (p.Tyr1590His)
c.3907T>C (p.Tyr1303His)
n.5708T>C
n.5712T>C
1g.1051793T>GCA510114AGRNc.5629T>G (p.Tyr1877Asp)
c.5326T>G (p.Tyr1776Asp)
c.5314T>G (p.Tyr1772Asp)
c.536T>G
c.5227T>G (p.Tyr1743Asp)
c.5641T>G (p.Tyr1881Asp)
c.4768T>G (p.Tyr1590Asp)
c.3907T>G (p.Tyr1303Asp)
n.5708T>G
n.5712T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1051793T=CA1148758997AGRNc.5629T= (p.Tyr1877=)
c.5326T= (p.Tyr1776=)
c.5314T= (p.Tyr1772=)
c.536T=
c.5227T= (p.Tyr1743=)
c.5641T= (p.Tyr1881=)
c.4768T= (p.Tyr1590=)
c.3907T= (p.Tyr1303=)
n.5708T=
n.5712T=
1g.1051794A>CCA337782690AGRNc.5630A>C (p.Tyr1877Ser)
c.5327A>C (p.Tyr1776Ser)
c.5315A>C (p.Tyr1772Ser)
c.537A>C
c.5228A>C (p.Tyr1743Ser)
c.5642A>C (p.Tyr1881Ser)
c.4769A>C (p.Tyr1590Ser)
c.3908A>C (p.Tyr1303Ser)
n.5709A>C
n.5713A>C
1g.1051794A>GCA337782691AGRNc.5630A>G (p.Tyr1877Cys)
c.5327A>G (p.Tyr1776Cys)
c.5315A>G (p.Tyr1772Cys)
c.537A>G
c.5228A>G (p.Tyr1743Cys)
c.5642A>G (p.Tyr1881Cys)
c.4769A>G (p.Tyr1590Cys)
c.3908A>G (p.Tyr1303Cys)
n.5709A>G
n.5713A>G
 gnomAD v4
1g.1051794A>TCA337782692AGRNc.5630A>T (p.Tyr1877Phe)
c.5327A>T (p.Tyr1776Phe)
c.5315A>T (p.Tyr1772Phe)
c.537A>T
c.5228A>T (p.Tyr1743Phe)
c.5642A>T (p.Tyr1881Phe)
c.4769A>T (p.Tyr1590Phe)
c.3908A>T (p.Tyr1303Phe)
n.5709A>T
n.5713A>T
1g.1051795C>ACA337782694AGRNc.5631C>A (p.Tyr1877Ter)
c.5328C>A (p.Tyr1776Ter)
c.5316C>A (p.Tyr1772Ter)
c.538C>A
c.5229C>A (p.Tyr1743Ter)
c.5643C>A (p.Tyr1881Ter)
c.4770C>A (p.Tyr1590Ter)
c.3909C>A (p.Tyr1303Ter)
n.5710C>A
n.5714C>A
1g.1051795C=CA1142660320AGRNc.5631C= (p.Tyr1877=)
c.5328C= (p.Tyr1776=)
c.5316C= (p.Tyr1772=)
c.538C=
c.5229C= (p.Tyr1743=)
c.5643C= (p.Tyr1881=)
c.4770C= (p.Tyr1590=)
c.3909C= (p.Tyr1303=)
n.5710C=
n.5714C=
1g.1051795C>GCA337782693AGRNc.5631C>G (p.Tyr1877Ter)
c.5328C>G (p.Tyr1776Ter)
c.5316C>G (p.Tyr1772Ter)
c.538C>G
c.5229C>G (p.Tyr1743Ter)
c.5643C>G (p.Tyr1881Ter)
c.4770C>G (p.Tyr1590Ter)
c.3909C>G (p.Tyr1303Ter)
n.5710C>G
n.5714C>G
1g.1051795C>TCA16702882AGRNc.5631C>T (p.Tyr1877=)
c.5328C>T (p.Tyr1776=)
c.5316C>T (p.Tyr1772=)
c.538C>T
c.5229C>T (p.Tyr1743=)
c.5643C>T (p.Tyr1881=)
c.4770C>T (p.Tyr1590=)
c.3909C>T (p.Tyr1303=)
n.5710C>T
n.5714C>T
 dbSNP gnomAD v3 gnomAD v4
1g.1051796C>ACA337782695AGRNc.5632C>A (p.Leu1878Ile)
c.5329C>A (p.Leu1777Ile)
c.5317C>A (p.Leu1773Ile)
c.539C>A
c.5230C>A (p.Leu1744Ile)
c.5644C>A (p.Leu1882Ile)
c.4771C>A (p.Leu1591Ile)
c.3910C>A (p.Leu1304Ile)
n.5711C>A
n.5715C>A
1g.1051796C=CA1148759007AGRNc.5632C= (p.Leu1878=)
c.5329C= (p.Leu1777=)
c.5317C= (p.Leu1773=)
c.539C=
c.5230C= (p.Leu1744=)
c.5644C= (p.Leu1882=)
c.4771C= (p.Leu1591=)
c.3910C= (p.Leu1304=)
n.5711C=
n.5715C=
1g.1051796C>GCA337782696AGRNc.5632C>G (p.Leu1878Val)
c.5329C>G (p.Leu1777Val)
c.5317C>G (p.Leu1773Val)
c.539C>G
c.5230C>G (p.Leu1744Val)
c.5644C>G (p.Leu1882Val)
c.4771C>G (p.Leu1591Val)
c.3910C>G (p.Leu1304Val)
n.5711C>G
n.5715C>G
1g.1051796C>TCA337782697AGRNc.5632C>T (p.Leu1878Phe)
c.5329C>T (p.Leu1777Phe)
c.5317C>T (p.Leu1773Phe)
c.539C>T
c.5230C>T (p.Leu1744Phe)
c.5644C>T (p.Leu1882Phe)
c.4771C>T (p.Leu1591Phe)
c.3910C>T (p.Leu1304Phe)
n.5711C>T
n.5715C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1051797T>ACA337782698AGRNc.5633T>A (p.Leu1878His)
c.5330T>A (p.Leu1777His)
c.5318T>A (p.Leu1773His)
c.540T>A
c.5231T>A (p.Leu1744His)
c.5645T>A (p.Leu1882His)
c.4772T>A (p.Leu1591His)
c.3911T>A (p.Leu1304His)
n.5712T>A
n.5716T>A
1g.1051797T>CCA337782699AGRNc.5633T>C (p.Leu1878Pro)
c.5330T>C (p.Leu1777Pro)
c.5318T>C (p.Leu1773Pro)
c.540T>C
c.5231T>C (p.Leu1744Pro)
c.5645T>C (p.Leu1882Pro)
c.4772T>C (p.Leu1591Pro)
c.3911T>C (p.Leu1304Pro)
n.5712T>C
n.5716T>C
1g.1051797T>GCA337782700AGRNc.5633T>G (p.Leu1878Arg)
c.5330T>G (p.Leu1777Arg)
c.5318T>G (p.Leu1773Arg)
c.540T>G
c.5231T>G (p.Leu1744Arg)
c.5645T>G (p.Leu1882Arg)
c.4772T>G (p.Leu1591Arg)
c.3911T>G (p.Leu1304Arg)
n.5712T>G
n.5716T>G
1g.1051798C>ACA415325879AGRNc.5634C>A (p.Leu1878=)
c.5331C>A (p.Leu1777=)
c.5319C>A (p.Leu1773=)
c.541C>A
c.5232C>A (p.Leu1744=)
c.5646C>A (p.Leu1882=)
c.4773C>A (p.Leu1591=)
c.3912C>A (p.Leu1304=)
n.5713C>A
n.5717C>A
1g.1051798C>GCA415325877AGRNc.5634C>G (p.Leu1878=)
c.5331C>G (p.Leu1777=)
c.5319C>G (p.Leu1773=)
c.541C>G
c.5232C>G (p.Leu1744=)
c.5646C>G (p.Leu1882=)
c.4773C>G (p.Leu1591=)
c.3912C>G (p.Leu1304=)
n.5713C>G
n.5717C>G
1g.1051798C>TCA415325875AGRNc.5634C>T (p.Leu1878=)
c.5331C>T (p.Leu1777=)
c.5319C>T (p.Leu1773=)
c.541C>T
c.5232C>T (p.Leu1744=)
c.5646C>T (p.Leu1882=)
c.4773C>T (p.Leu1591=)
c.3912C>T (p.Leu1304=)
n.5713C>T
n.5717C>T
1g.1051799A=CA1148759059AGRNc.5635A= (p.Asn1879=)
c.5332A= (p.Asn1778=)
c.5320A= (p.Asn1774=)
c.542A=
c.5233A= (p.Asn1745=)
c.5647A= (p.Asn1883=)
c.4774A= (p.Asn1592=)
c.3913A= (p.Asn1305=)
n.5714A=
n.5718A=
1g.1051799A>CCA337782701AGRNc.5635A>C (p.Asn1879His)
c.5332A>C (p.Asn1778His)
c.5320A>C (p.Asn1774His)
c.542A>C
c.5233A>C (p.Asn1745His)
c.5647A>C (p.Asn1883His)
c.4774A>C (p.Asn1592His)
c.3913A>C (p.Asn1305His)
n.5714A>C
n.5718A>C
 gnomAD v4
1g.1051799A>GCA337782702AGRNc.5635A>G (p.Asn1879Asp)
c.5332A>G (p.Asn1778Asp)
c.5320A>G (p.Asn1774Asp)
c.542A>G
c.5233A>G (p.Asn1745Asp)
c.5647A>G (p.Asn1883Asp)
c.4774A>G (p.Asn1592Asp)
c.3913A>G (p.Asn1305Asp)
n.5714A>G
n.5718A>G
 dbSNP gnomAD v4
1g.1051799A>TCA337782703AGRNc.5635A>T (p.Asn1879Tyr)
c.5332A>T (p.Asn1778Tyr)
c.5320A>T (p.Asn1774Tyr)
c.542A>T
c.5233A>T (p.Asn1745Tyr)
c.5647A>T (p.Asn1883Tyr)
c.4774A>T (p.Asn1592Tyr)
c.3913A>T (p.Asn1305Tyr)
n.5714A>T
n.5718A>T
1g.1051800A=CA1148759070AGRNc.5636A= (p.Asn1879=)
c.5333A= (p.Asn1778=)
c.5321A= (p.Asn1774=)
c.543A=
c.5234A= (p.Asn1745=)
c.5648A= (p.Asn1883=)
c.4775A= (p.Asn1592=)
c.3914A= (p.Asn1305=)
n.5715A=
n.5719A=
1g.1051800A>CCA337782704AGRNc.5636A>C (p.Asn1879Thr)
c.5333A>C (p.Asn1778Thr)
c.5321A>C (p.Asn1774Thr)
c.543A>C
c.5234A>C (p.Asn1745Thr)
c.5648A>C (p.Asn1883Thr)
c.4775A>C (p.Asn1592Thr)
c.3914A>C (p.Asn1305Thr)
n.5715A>C
n.5719A>C
1g.1051800A>GCA16702883AGRNc.5636A>G (p.Asn1879Ser)
c.5333A>G (p.Asn1778Ser)
c.5321A>G (p.Asn1774Ser)
c.543A>G
c.5234A>G (p.Asn1745Ser)
c.5648A>G (p.Asn1883Ser)
c.4775A>G (p.Asn1592Ser)
c.3914A>G (p.Asn1305Ser)
n.5715A>G
n.5719A>G
 dbSNP
1g.1051800A>TCA337782705AGRNc.5636A>T (p.Asn1879Ile)
c.5333A>T (p.Asn1778Ile)
c.5321A>T (p.Asn1774Ile)
c.543A>T
c.5234A>T (p.Asn1745Ile)
c.5648A>T (p.Asn1883Ile)
c.4775A>T (p.Asn1592Ile)
c.3914A>T (p.Asn1305Ile)
n.5715A>T
n.5719A>T
1g.1051801C>ACA337782706AGRNc.5637C>A (p.Asn1879Lys)
c.5334C>A (p.Asn1778Lys)
c.5322C>A (p.Asn1774Lys)
c.544C>A
c.5235C>A (p.Asn1745Lys)
c.5649C>A (p.Asn1883Lys)
c.4776C>A (p.Asn1592Lys)
c.3915C>A (p.Asn1305Lys)
n.5716C>A
n.5720C>A
1g.1051801C=CA1141791918AGRNc.5637C= (p.Asn1879=)
c.5334C= (p.Asn1778=)
c.5322C= (p.Asn1774=)
c.544C=
c.5235C= (p.Asn1745=)
c.5649C= (p.Asn1883=)
c.4776C= (p.Asn1592=)
c.3915C= (p.Asn1305=)
n.5716C=
n.5720C=
1g.1051801C>GCA337782707AGRNc.5637C>G (p.Asn1879Lys)
c.5334C>G (p.Asn1778Lys)
c.5322C>G (p.Asn1774Lys)
c.544C>G
c.5235C>G (p.Asn1745Lys)
c.5649C>G (p.Asn1883Lys)
c.4776C>G (p.Asn1592Lys)
c.3915C>G (p.Asn1305Lys)
n.5716C>G
n.5720C>G
1g.1051801C>TCA510115AGRNc.5637C>T (p.Asn1879=)
c.5334C>T (p.Asn1778=)
c.5322C>T (p.Asn1774=)
c.544C>T
c.5235C>T (p.Asn1745=)
c.5649C>T (p.Asn1883=)
c.4776C>T (p.Asn1592=)
c.3915C>T (p.Asn1305=)
n.5716C>T
n.5720C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1051802G>ACA510116AGRNc.5638G>A (p.Ala1880Thr)
c.5335G>A (p.Ala1779Thr)
c.5323G>A (p.Ala1775Thr)
c.545G>A
c.5236G>A (p.Ala1746Thr)
c.5650G>A (p.Ala1884Thr)
c.4777G>A (p.Ala1593Thr)
c.3916G>A (p.Ala1306Thr)
n.5717G>A
n.5721G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.1051802G>CCA337782708AGRNc.5638G>C (p.Ala1880Pro)
c.5335G>C (p.Ala1779Pro)
c.5323G>C (p.Ala1775Pro)
c.545G>C
c.5236G>C (p.Ala1746Pro)
c.5650G>C (p.Ala1884Pro)
c.4777G>C (p.Ala1593Pro)
c.3916G>C (p.Ala1306Pro)
n.5717G>C
n.5721G>C
1g.1051802G=CA1148759074AGRNc.5638G= (p.Ala1880=)
c.5335G= (p.Ala1779=)
c.5323G= (p.Ala1775=)
c.545G=
c.5236G= (p.Ala1746=)
c.5650G= (p.Ala1884=)
c.4777G= (p.Ala1593=)
c.3916G= (p.Ala1306=)
n.5717G=
n.5721G=
1g.1051802G>TCA510117AGRNc.5638G>T (p.Ala1880Ser)
c.5335G>T (p.Ala1779Ser)
c.5323G>T (p.Ala1775Ser)
c.545G>T
c.5236G>T (p.Ala1746Ser)
c.5650G>T (p.Ala1884Ser)
c.4777G>T (p.Ala1593Ser)
c.3916G>T (p.Ala1306Ser)
n.5717G>T
n.5721G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1051803C>ACA337782709AGRNc.5639C>A (p.Ala1880Asp)
c.5336C>A (p.Ala1779Asp)
c.5324C>A (p.Ala1775Asp)
c.546C>A
c.5237C>A (p.Ala1746Asp)
c.5651C>A (p.Ala1884Asp)
c.4778C>A (p.Ala1593Asp)
c.3917C>A (p.Ala1306Asp)
n.5718C>A
n.5722C>A
1g.1051803C>GCA337782711AGRNc.5639C>G (p.Ala1880Gly)
c.5336C>G (p.Ala1779Gly)
c.5324C>G (p.Ala1775Gly)
c.546C>G
c.5237C>G (p.Ala1746Gly)
c.5651C>G (p.Ala1884Gly)
c.4778C>G (p.Ala1593Gly)
c.3917C>G (p.Ala1306Gly)
n.5718C>G
n.5722C>G
1g.1051803C>TCA337782710AGRNc.5639C>T (p.Ala1880Val)
c.5336C>T (p.Ala1779Val)
c.5324C>T (p.Ala1775Val)
c.546C>T
c.5237C>T (p.Ala1746Val)
c.5651C>T (p.Ala1884Val)
c.4778C>T (p.Ala1593Val)
c.3917C>T (p.Ala1306Val)
n.5718C>T
n.5722C>T
1g.1051804T>ACA415325907AGRNc.5640T>A (p.Ala1880=)
c.5337T>A (p.Ala1779=)
c.5325T>A (p.Ala1775=)
c.547T>A
c.5238T>A (p.Ala1746=)
c.5652T>A (p.Ala1884=)
c.4779T>A (p.Ala1593=)
c.3918T>A (p.Ala1306=)
n.5719T>A
n.5723T>A
1g.1051804T>CCA415325912AGRNc.5640T>C (p.Ala1880=)
c.5337T>C (p.Ala1779=)
c.5325T>C (p.Ala1775=)
c.547T>C
c.5238T>C (p.Ala1746=)
c.5652T>C (p.Ala1884=)
c.4779T>C (p.Ala1593=)
c.3918T>C (p.Ala1306=)
n.5719T>C
n.5723T>C
 dbSNP gnomAD v3 gnomAD v4
1g.1051804T>GCA415325910AGRNc.5640T>G (p.Ala1880=)
c.5337T>G (p.Ala1779=)
c.5325T>G (p.Ala1775=)
c.547T>G
c.5238T>G (p.Ala1746=)
c.5652T>G (p.Ala1884=)
c.4779T>G (p.Ala1593=)
c.3918T>G (p.Ala1306=)
n.5719T>G
n.5723T>G
1g.1051804T=CA1148759082AGRNc.5640T= (p.Ala1880=)
c.5337T= (p.Ala1779=)
c.5325T= (p.Ala1775=)
c.547T=
c.5238T= (p.Ala1746=)
c.5652T= (p.Ala1884=)
c.4779T= (p.Ala1593=)
c.3918T= (p.Ala1306=)
n.5719T=
n.5723T=
1g.1051805G>ACA337782712AGRNc.5641G>A (p.Val1881Met)
c.5338G>A (p.Val1780Met)
c.5326G>A (p.Val1776Met)
c.548G>A
c.5239G>A (p.Val1747Met)
c.5653G>A (p.Val1885Met)
c.4780G>A (p.Val1594Met)
c.3919G>A (p.Val1307Met)
n.5720G>A
n.5724G>A
1g.1051805G>CCA337782714AGRNc.5641G>C (p.Val1881Leu)
c.5338G>C (p.Val1780Leu)
c.5326G>C (p.Val1776Leu)
c.548G>C
c.5239G>C (p.Val1747Leu)
c.5653G>C (p.Val1885Leu)
c.4780G>C (p.Val1594Leu)
c.3919G>C (p.Val1307Leu)
n.5720G>C
n.5724G>C
1g.1051805G>TCA337782713AGRNc.5641G>T (p.Val1881Leu)
c.5338G>T (p.Val1780Leu)
c.5326G>T (p.Val1776Leu)
c.548G>T
c.5239G>T (p.Val1747Leu)
c.5653G>T (p.Val1885Leu)
c.4780G>T (p.Val1594Leu)
c.3919G>T (p.Val1307Leu)
n.5720G>T
n.5724G>T
1g.1051806T>ACA337782715AGRNc.5642T>A (p.Val1881Glu)
c.5339T>A (p.Val1780Glu)
c.5327T>A (p.Val1776Glu)
c.549T>A
c.5240T>A (p.Val1747Glu)
c.5654T>A (p.Val1885Glu)
c.4781T>A (p.Val1594Glu)
c.3920T>A (p.Val1307Glu)
n.5721T>A
n.5725T>A
1g.1051806T>CCA337782716AGRNc.5642T>C (p.Val1881Ala)
c.5339T>C (p.Val1780Ala)
c.5327T>C (p.Val1776Ala)
c.549T>C
c.5240T>C (p.Val1747Ala)
c.5654T>C (p.Val1885Ala)
c.4781T>C (p.Val1594Ala)
c.3920T>C (p.Val1307Ala)
n.5721T>C
n.5725T>C
1g.1051806T>GCA337782717AGRNc.5642T>G (p.Val1881Gly)
c.5339T>G (p.Val1780Gly)
c.5327T>G (p.Val1776Gly)
c.549T>G
c.5240T>G (p.Val1747Gly)
c.5654T>G (p.Val1885Gly)
c.4781T>G (p.Val1594Gly)
c.3920T>G (p.Val1307Gly)
n.5721T>G
n.5725T>G
1g.1051807G>ACA510118AGRNc.5643G>A (p.Val1881=)
c.5340G>A (p.Val1780=)
c.5328G>A (p.Val1776=)
c.550G>A
c.5241G>A (p.Val1747=)
c.5655G>A (p.Val1885=)
c.4782G>A (p.Val1594=)
c.3921G>A (p.Val1307=)
n.5722G>A
n.5726G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1051807G>CCA415325920AGRNc.5643G>C (p.Val1881=)
c.5340G>C (p.Val1780=)
c.5328G>C (p.Val1776=)
c.550G>C
c.5241G>C (p.Val1747=)
c.5655G>C (p.Val1885=)
c.4782G>C (p.Val1594=)
c.3921G>C (p.Val1307=)
n.5722G>C
n.5726G>C
1g.1051807G=CA1141854455AGRNc.5643G= (p.Val1881=)
c.5340G= (p.Val1780=)
c.5328G= (p.Val1776=)
c.550G=
c.5241G= (p.Val1747=)
c.5655G= (p.Val1885=)
c.4782G= (p.Val1594=)
c.3921G= (p.Val1307=)
n.5722G=
n.5726G=
1g.1051807G>TCA415325929AGRNc.5643G>T (p.Val1881=)
c.5340G>T (p.Val1780=)
c.5328G>T (p.Val1776=)
c.550G>T
c.5241G>T (p.Val1747=)
c.5655G>T (p.Val1885=)
c.4782G>T (p.Val1594=)
c.3921G>T (p.Val1307=)
n.5722G>T
n.5726G>T
 gnomAD v4
1g.1051808A>CCA337782718AGRNc.5644A>C (p.Thr1882Pro)
c.5341A>C (p.Thr1781Pro)
c.5329A>C (p.Thr1777Pro)
c.551A>C
c.5242A>C (p.Thr1748Pro)
c.5656A>C (p.Thr1886Pro)
c.4783A>C (p.Thr1595Pro)
c.3922A>C (p.Thr1308Pro)
n.5723A>C
n.5727A>C
1g.1051808A>GCA337782719AGRNc.5644A>G (p.Thr1882Ala)
c.5341A>G (p.Thr1781Ala)
c.5329A>G (p.Thr1777Ala)
c.551A>G
c.5242A>G (p.Thr1748Ala)
c.5656A>G (p.Thr1886Ala)
c.4783A>G (p.Thr1595Ala)
c.3922A>G (p.Thr1308Ala)
n.5723A>G
n.5727A>G
1g.1051808A>TCA337782720AGRNc.5644A>T (p.Thr1882Ser)
c.5341A>T (p.Thr1781Ser)
c.5329A>T (p.Thr1777Ser)
c.551A>T
c.5242A>T (p.Thr1748Ser)
c.5656A>T (p.Thr1886Ser)
c.4783A>T (p.Thr1595Ser)
c.3922A>T (p.Thr1308Ser)
n.5723A>T
n.5727A>T
1g.1051809C>ACA337782722AGRNc.5645C>A (p.Thr1882Asn)
c.5342C>A (p.Thr1781Asn)
c.5330C>A (p.Thr1777Asn)
c.552C>A
c.5243C>A (p.Thr1748Asn)
c.5657C>A (p.Thr1886Asn)
c.4784C>A (p.Thr1595Asn)
c.3923C>A (p.Thr1308Asn)
n.5724C>A
n.5728C>A
1g.1051809C=CA1145250579AGRNc.5645C= (p.Thr1882=)
c.5342C= (p.Thr1781=)
c.5330C= (p.Thr1777=)
c.552C=
c.5243C= (p.Thr1748=)
c.5657C= (p.Thr1886=)
c.4784C= (p.Thr1595=)
c.3923C= (p.Thr1308=)
n.5724C=
n.5728C=
1g.1051809C>GCA337782721AGRNc.5645C>G (p.Thr1882Ser)
c.5342C>G (p.Thr1781Ser)
c.5330C>G (p.Thr1777Ser)
c.552C>G
c.5243C>G (p.Thr1748Ser)
c.5657C>G (p.Thr1886Ser)
c.4784C>G (p.Thr1595Ser)
c.3923C>G (p.Thr1308Ser)
n.5724C>G
n.5728C>G
 dbSNP
1g.1051809C>TCA510119AGRNc.5645C>T (p.Thr1882Ile)
c.5342C>T (p.Thr1781Ile)
c.5330C>T (p.Thr1777Ile)
c.552C>T
c.5243C>T (p.Thr1748Ile)
c.5657C>T (p.Thr1886Ile)
c.4784C>T (p.Thr1595Ile)
c.3923C>T (p.Thr1308Ile)
n.5724C>T
n.5728C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1051810C>ACA510120AGRNc.5646C>A (p.Thr1882=)
c.5343C>A (p.Thr1781=)
c.5331C>A (p.Thr1777=)
c.553C>A
c.5244C>A (p.Thr1748=)
c.5658C>A (p.Thr1886=)
c.4785C>A (p.Thr1595=)
c.3924C>A (p.Thr1308=)
n.5725C>A
n.5729C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1051810C=CA1148068694AGRNc.5646C= (p.Thr1882=)
c.5343C= (p.Thr1781=)
c.5331C= (p.Thr1777=)
c.553C=
c.5244C= (p.Thr1748=)
c.5658C= (p.Thr1886=)
c.4785C= (p.Thr1595=)
c.3924C= (p.Thr1308=)
n.5725C=
n.5729C=
1g.1051810C>GCA415325942AGRNc.5646C>G (p.Thr1882=)
c.5343C>G (p.Thr1781=)
c.5331C>G (p.Thr1777=)
c.553C>G
c.5244C>G (p.Thr1748=)
c.5658C>G (p.Thr1886=)
c.4785C>G (p.Thr1595=)
c.3924C>G (p.Thr1308=)
n.5725C>G
n.5729C>G
1g.1051810C>TCA510121AGRNc.5646C>T (p.Thr1882=)
c.5343C>T (p.Thr1781=)
c.5331C>T (p.Thr1777=)
c.553C>T
c.5244C>T (p.Thr1748=)
c.5658C>T (p.Thr1886=)
c.4785C>T (p.Thr1595=)
c.3924C>T (p.Thr1308=)
n.5725C>T
n.5729C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1051811G>ACA510122AGRNc.5647G>A (p.Glu1883Lys)
c.5344G>A (p.Glu1782Lys)
c.5332G>A (p.Glu1778Lys)
c.554G>A
c.5245G>A (p.Glu1749Lys)
c.5659G>A (p.Glu1887Lys)
c.4786G>A (p.Glu1596Lys)
c.3925G>A (p.Glu1309Lys)
n.5726G>A
n.5730G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1051811G>CCA337782723AGRNc.5647G>C (p.Glu1883Gln)
c.5344G>C (p.Glu1782Gln)
c.5332G>C (p.Glu1778Gln)
c.554G>C
c.5245G>C (p.Glu1749Gln)
c.5659G>C (p.Glu1887Gln)
c.4786G>C (p.Glu1596Gln)
c.3925G>C (p.Glu1309Gln)
n.5726G>C
n.5730G>C
1g.1051811G=CA1141678818AGRNc.5647G= (p.Glu1883=)
c.5344G= (p.Glu1782=)
c.5332G= (p.Glu1778=)
c.554G=
c.5245G= (p.Glu1749=)
c.5659G= (p.Glu1887=)
c.4786G= (p.Glu1596=)
c.3925G= (p.Glu1309=)
n.5726G=
n.5730G=
1g.1051811G>TCA337782724AGRNc.5647G>T (p.Glu1883Ter)
c.5344G>T (p.Glu1782Ter)
c.5332G>T (p.Glu1778Ter)
c.554G>T
c.5245G>T (p.Glu1749Ter)
c.5659G>T (p.Glu1887Ter)
c.4786G>T (p.Glu1596Ter)
c.3925G>T (p.Glu1309Ter)
n.5726G>T
n.5730G>T
 dbSNP
1g.1051812A>CCA337782725AGRNc.5648A>C (p.Glu1883Ala)
c.5345A>C (p.Glu1782Ala)
c.5333A>C (p.Glu1778Ala)
c.555A>C
c.5246A>C (p.Glu1749Ala)
c.5660A>C (p.Glu1887Ala)
c.4787A>C (p.Glu1596Ala)
c.3926A>C (p.Glu1309Ala)
n.5727A>C
n.5731A>C
1g.1051812A>GCA337782727AGRNc.5648A>G (p.Glu1883Gly)
c.5345A>G (p.Glu1782Gly)
c.5333A>G (p.Glu1778Gly)
c.555A>G
c.5246A>G (p.Glu1749Gly)
c.5660A>G (p.Glu1887Gly)
c.4787A>G (p.Glu1596Gly)
c.3926A>G (p.Glu1309Gly)
n.5727A>G
n.5731A>G
1g.1051812A>TCA337782726AGRNc.5648A>T (p.Glu1883Val)
c.5345A>T (p.Glu1782Val)
c.5333A>T (p.Glu1778Val)
c.555A>T
c.5246A>T (p.Glu1749Val)
c.5660A>T (p.Glu1887Val)
c.4787A>T (p.Glu1596Val)
c.3926A>T (p.Glu1309Val)
n.5727A>T
n.5731A>T
1g.1051813G>ACA415325955AGRNc.5649G>A (p.Glu1883=)
c.5346G>A (p.Glu1782=)
c.5334G>A (p.Glu1778=)
c.556G>A
c.5247G>A (p.Glu1749=)
c.5661G>A (p.Glu1887=)
c.4788G>A (p.Glu1596=)
c.3927G>A (p.Glu1309=)
n.5728G>A
n.5732G>A
 dbSNP gnomAD v2
1g.1051813G>CCA337782728AGRNc.5649G>C (p.Glu1883Asp)
c.5346G>C (p.Glu1782Asp)
c.5334G>C (p.Glu1778Asp)
c.556G>C
c.5247G>C (p.Glu1749Asp)
c.5661G>C (p.Glu1887Asp)
c.4788G>C (p.Glu1596Asp)
c.3927G>C (p.Glu1309Asp)
n.5728G>C
n.5732G>C
1g.1051813G=CA1148759117AGRNc.5649G= (p.Glu1883=)
c.5346G= (p.Glu1782=)
c.5334G= (p.Glu1778=)
c.556G=
c.5247G= (p.Glu1749=)
c.5661G= (p.Glu1887=)
c.4788G= (p.Glu1596=)
c.3927G= (p.Glu1309=)
n.5728G=
n.5732G=
1g.1051813G>TCA337782729AGRNc.5649G>T (p.Glu1883Asp)
c.5346G>T (p.Glu1782Asp)
c.5334G>T (p.Glu1778Asp)
c.556G>T
c.5247G>T (p.Glu1749Asp)
c.5661G>T (p.Glu1887Asp)
c.4788G>T (p.Glu1596Asp)
c.3927G>T (p.Glu1309Asp)
n.5728G>T
n.5732G>T
1g.1051814A=CA1148759119AGRNc.5650A= (p.Ser1884=)
c.5347A= (p.Ser1783=)
c.5335A= (p.Ser1779=)
c.557A=
c.5248A= (p.Ser1750=)
c.5662A= (p.Ser1888=)
c.4789A= (p.Ser1597=)
c.3928A= (p.Ser1310=)
n.5729A=
n.5733A=
1g.1051814A>CCA337782730AGRNc.5650A>C (p.Ser1884Arg)
c.5347A>C (p.Ser1783Arg)
c.5335A>C (p.Ser1779Arg)
c.557A>C
c.5248A>C (p.Ser1750Arg)
c.5662A>C (p.Ser1888Arg)
c.4789A>C (p.Ser1597Arg)
c.3928A>C (p.Ser1310Arg)
n.5729A>C
n.5733A>C
1g.1051814A>GCA337782731AGRNc.5650A>G (p.Ser1884Gly)
c.5347A>G (p.Ser1783Gly)
c.5335A>G (p.Ser1779Gly)
c.557A>G
c.5248A>G (p.Ser1750Gly)
c.5662A>G (p.Ser1888Gly)
c.4789A>G (p.Ser1597Gly)
c.3928A>G (p.Ser1310Gly)
n.5729A>G
n.5733A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1051814A>TCA337782732AGRNc.5650A>T (p.Ser1884Cys)
c.5347A>T (p.Ser1783Cys)
c.5335A>T (p.Ser1779Cys)
c.557A>T
c.5248A>T (p.Ser1750Cys)
c.5662A>T (p.Ser1888Cys)
c.4789A>T (p.Ser1597Cys)
c.3928A>T (p.Ser1310Cys)
n.5729A>T
n.5733A>T
1g.1051815G>ACA337782733AGRNc.5651G>A (p.Ser1884Asn)
c.5348G>A (p.Ser1783Asn)
c.5336G>A (p.Ser1779Asn)
c.558G>A
c.5249G>A (p.Ser1750Asn)
c.5663G>A (p.Ser1888Asn)
c.4790G>A (p.Ser1597Asn)
c.3929G>A (p.Ser1310Asn)
n.5730G>A
n.5734G>A
 dbSNP gnomAD v2
1g.1051815G>CCA337782734AGRNc.5651G>C (p.Ser1884Thr)
c.5348G>C (p.Ser1783Thr)
c.5336G>C (p.Ser1779Thr)
c.558G>C
c.5249G>C (p.Ser1750Thr)
c.5663G>C (p.Ser1888Thr)
c.4790G>C (p.Ser1597Thr)
c.3929G>C (p.Ser1310Thr)
n.5730G>C
n.5734G>C
1g.1051815G=CA1148759121AGRNc.5651G= (p.Ser1884=)
c.5348G= (p.Ser1783=)
c.5336G= (p.Ser1779=)
c.558G=
c.5249G= (p.Ser1750=)
c.5663G= (p.Ser1888=)
c.4790G= (p.Ser1597=)
c.3929G= (p.Ser1310=)
n.5730G=
n.5734G=
1g.1051815G>TCA337782735AGRNc.5651G>T (p.Ser1884Ile)
c.5348G>T (p.Ser1783Ile)
c.5336G>T (p.Ser1779Ile)
c.558G>T
c.5249G>T (p.Ser1750Ile)
c.5663G>T (p.Ser1888Ile)
c.4790G>T (p.Ser1597Ile)
c.3929G>T (p.Ser1310Ile)
n.5730G>T
n.5734G>T
1g.1051815_1051816insCGAGAAGGCACTGCAGAGCAACCACTTTGAACTGAGCCTGCGCACTCA2695374085AGRNc.5651_5651+1insCGAGAAGGCACTGCAGAGCAACCACTTTGAACTGAGCCTGCGCACT (n.5651_5651+1insCGAGAAGGCACTGCAGAGCAACCACTTTGAACTGAGCCTGCGCACT)
c.5348_5348+1insCGAGAAGGCACTGCAGAGCAACCACTTTGAACTGAGCCTGCGCACT (n.5348_5348+1insCGAGAAGGCACTGCAGAGCAACCACTTTGAACTGAGCCTGCGCACT)
c.5336_5336+1insCGAGAAGGCACTGCAGAGCAACCACTTTGAACTGAGCCTGCGCACT (n.5336_5336+1insCGAGAAGGCACTGCAGAGCAACCACTTTGAACTGAGCCTGCGCACT)
c.558_558+1insCGAGAAGGCACTGCAGAGCAACCACTTTGAACTGAGCCTGCGCACT
c.5249_5249+1insCGAGAAGGCACTGCAGAGCAACCACTTTGAACTGAGCCTGCGCACT (n.5249_5249+1insCGAGAAGGCACTGCAGAGCAACCACTTTGAACTGAGCCTGCGCACT)
c.5663_5663+1insCGAGAAGGCACTGCAGAGCAACCACTTTGAACTGAGCCTGCGCACT (n.5663_5663+1insCGAGAAGGCACTGCAGAGCAACCACTTTGAACTGAGCCTGCGCACT)
c.4790_4790+1insCGAGAAGGCACTGCAGAGCAACCACTTTGAACTGAGCCTGCGCACT (n.4790_4790+1insCGAGAAGGCACTGCAGAGCAACCACTTTGAACTGAGCCTGCGCACT)
c.3929_3929+1insCGAGAAGGCACTGCAGAGCAACCACTTTGAACTGAGCCTGCGCACT (n.3929_3929+1insCGAGAAGGCACTGCAGAGCAACCACTTTGAACTGAGCCTGCGCACT)
n.5730_5730+1insCGAGAAGGCACTGCAGAGCAACCACTTTGAACTGAGCCTGCGCACT
n.5734_5734+1insCGAGAAGGCACTGCAGAGCAACCACTTTGAACTGAGCCTGCGCACT
 dbSNP
1g.1051816G>ACA337782736AGRNc.5651+1G>A (n.5651+1G>A)
c.5348+1G>A (n.5348+1G>A)
c.5336+1G>A (n.5336+1G>A)
c.558+1G>A
c.5249+1G>A (n.5249+1G>A)
c.5663+1G>A (n.5663+1G>A)
c.4790+1G>A (n.4790+1G>A)
c.3929+1G>A (n.3929+1G>A)
n.5730+1G>A
n.5734+1G>A
 gnomAD v4
1g.1051816G>CCA337782737AGRNc.5651+1G>C (n.5651+1G>C)
c.5348+1G>C (n.5348+1G>C)
c.5336+1G>C (n.5336+1G>C)
c.558+1G>C
c.5249+1G>C (n.5249+1G>C)
c.5663+1G>C (n.5663+1G>C)
c.4790+1G>C (n.4790+1G>C)
c.3929+1G>C (n.3929+1G>C)
n.5730+1G>C
n.5734+1G>C
1g.1051816G>TCA337782738AGRNc.5651+1G>T (n.5651+1G>T)
c.5348+1G>T (n.5348+1G>T)
c.5336+1G>T (n.5336+1G>T)
c.558+1G>T
c.5249+1G>T (n.5249+1G>T)
c.5663+1G>T (n.5663+1G>T)
c.4790+1G>T (n.4790+1G>T)
c.3929+1G>T (n.3929+1G>T)
n.5730+1G>T
n.5734+1G>T
1g.1051817T>ACA337782739AGRNc.5651+2T>A (n.5651+2T>A)
c.5348+2T>A (n.5348+2T>A)
c.5336+2T>A (n.5336+2T>A)
c.558+2T>A
c.5249+2T>A (n.5249+2T>A)
c.5663+2T>A (n.5663+2T>A)
c.4790+2T>A (n.4790+2T>A)
c.3929+2T>A (n.3929+2T>A)
n.5730+2T>A
n.5734+2T>A
1g.1051817T>CCA337782741AGRNc.5651+2T>C (n.5651+2T>C)
c.5348+2T>C (n.5348+2T>C)
c.5336+2T>C (n.5336+2T>C)
c.558+2T>C
c.5249+2T>C (n.5249+2T>C)
c.5663+2T>C (n.5663+2T>C)
c.4790+2T>C (n.4790+2T>C)
c.3929+2T>C (n.3929+2T>C)
n.5730+2T>C
n.5734+2T>C
1g.1051817T>GCA337782740AGRNc.5651+2T>G (n.5651+2T>G)
c.5348+2T>G (n.5348+2T>G)
c.5336+2T>G (n.5336+2T>G)
c.558+2T>G
c.5249+2T>G (n.5249+2T>G)
c.5663+2T>G (n.5663+2T>G)
c.4790+2T>G (n.4790+2T>G)
c.3929+2T>G (n.3929+2T>G)
n.5730+2T>G
n.5734+2T>G
 dbSNP
1g.1051817T=CA1148759124AGRNc.5651+2T= (n.5651+2T=)
c.5348+2T= (n.5348+2T=)
c.5336+2T= (n.5336+2T=)
c.558+2T=
c.5249+2T= (n.5249+2T=)
c.5663+2T= (n.5663+2T=)
c.4790+2T= (n.4790+2T=)
c.3929+2T= (n.3929+2T=)
n.5730+2T=
n.5734+2T=
1g.1051819A=CA1148759126AGRNc.5651+4A= (n.5651+4A=)
c.5348+4A= (n.5348+4A=)
c.5336+4A= (n.5336+4A=)
c.558+4A=
c.5249+4A= (n.5249+4A=)
c.5663+4A= (n.5663+4A=)
c.4790+4A= (n.4790+4A=)
c.3929+4A= (n.3929+4A=)
n.5730+4A=
n.5734+4A=
1g.1051819A>GCA16702923AGRNc.5651+4A>G (n.5651+4A>G)
c.5348+4A>G (n.5348+4A>G)
c.5336+4A>G (n.5336+4A>G)
c.558+4A>G
c.5249+4A>G (n.5249+4A>G)
c.5663+4A>G (n.5663+4A>G)
c.4790+4A>G (n.4790+4A>G)
c.3929+4A>G (n.3929+4A>G)
n.5730+4A>G
n.5734+4A>G
 dbSNP gnomAD v4
1g.1051820C>ACA2581635270AGRNc.5651+5C>A (n.5651+5C>A)
c.5348+5C>A (n.5348+5C>A)
c.5336+5C>A (n.5336+5C>A)
c.558+5C>A
c.5249+5C>A (n.5249+5C>A)
c.5663+5C>A (n.5663+5C>A)
c.4790+5C>A (n.4790+5C>A)
c.3929+5C>A (n.3929+5C>A)
n.5730+5C>A
n.5734+5C>A
1g.1051820C=CA1140179318AGRNc.5651+5C= (n.5651+5C=)
c.5348+5C= (n.5348+5C=)
c.5336+5C= (n.5336+5C=)
c.558+5C=
c.5249+5C= (n.5249+5C=)
c.5663+5C= (n.5663+5C=)
c.4790+5C= (n.4790+5C=)
c.3929+5C= (n.3929+5C=)
n.5730+5C=
n.5734+5C=
1g.1051820C>GCA520591571AGRNc.5651+5C>G (n.5651+5C>G)
c.5348+5C>G (n.5348+5C>G)
c.5336+5C>G (n.5336+5C>G)
c.558+5C>G
c.5249+5C>G (n.5249+5C>G)
c.5663+5C>G (n.5663+5C>G)
c.4790+5C>G (n.4790+5C>G)
c.3929+5C>G (n.3929+5C>G)
n.5730+5C>G
n.5734+5C>G
 dbSNP gnomAD v2 gnomAD v4
1g.1051820C>TCA151681AGRNc.5651+5C>T (n.5651+5C>T)
c.5348+5C>T (n.5348+5C>T)
c.5336+5C>T (n.5336+5C>T)
c.558+5C>T
c.5249+5C>T (n.5249+5C>T)
c.5663+5C>T (n.5663+5C>T)
c.4790+5C>T (n.4790+5C>T)
c.3929+5C>T (n.3929+5C>T)
n.5730+5C>T
n.5734+5C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1051821G>ACA520591573AGRNc.5651+6G>A (n.5651+6G>A)
c.5348+6G>A (n.5348+6G>A)
c.5336+6G>A (n.5336+6G>A)
c.558+6G>A
c.5249+6G>A (n.5249+6G>A)
c.5663+6G>A (n.5663+6G>A)
c.4790+6G>A (n.4790+6G>A)
c.3929+6G>A (n.3929+6G>A)
n.5730+6G>A
n.5734+6G>A
 dbSNP gnomAD v2 gnomAD v4
1g.1051821G=CA1148759136AGRNc.5651+6G= (n.5651+6G=)
c.5348+6G= (n.5348+6G=)
c.5336+6G= (n.5336+6G=)
c.558+6G=
c.5249+6G= (n.5249+6G=)
c.5663+6G= (n.5663+6G=)
c.4790+6G= (n.4790+6G=)
c.3929+6G= (n.3929+6G=)
n.5730+6G=
n.5734+6G=
1g.1051821G>TCA2642495067AGRNc.5651+6G>T (n.5651+6G>T)
c.5348+6G>T (n.5348+6G>T)
c.5336+6G>T (n.5336+6G>T)
c.558+6G>T
c.5249+6G>T (n.5249+6G>T)
c.5663+6G>T (n.5663+6G>T)
c.4790+6G>T (n.4790+6G>T)
c.3929+6G>T (n.3929+6G>T)
n.5730+6G>T
n.5734+6G>T
 gnomAD v4
1g.1051823G>TCA2742134979AGRNc.5651+8G>T (n.5651+8G>T)
c.5348+8G>T (n.5348+8G>T)
c.5336+8G>T (n.5336+8G>T)
c.558+8G>T
c.5249+8G>T (n.5249+8G>T)
c.5663+8G>T (n.5663+8G>T)
c.4790+8G>T (n.4790+8G>T)
c.3929+8G>T (n.3929+8G>T)
n.5730+8G>T
n.5734+8G>T
1g.1051824C>TCA2642495069AGRNc.5651+9C>T (n.5651+9C>T)
c.5348+9C>T (n.5348+9C>T)
c.5336+9C>T (n.5336+9C>T)
c.558+9C>T
c.5249+9C>T (n.5249+9C>T)
c.5663+9C>T (n.5663+9C>T)
c.4790+9C>T (n.4790+9C>T)
c.3929+9C>T (n.3929+9C>T)
n.5730+9C>T
n.5734+9C>T
 gnomAD v4
1g.1051825C>TCA2642495072AGRNc.5651+10C>T (n.5651+10C>T)
c.5348+10C>T (n.5348+10C>T)
c.5336+10C>T (n.5336+10C>T)
c.558+10C>T
c.5249+10C>T (n.5249+10C>T)
c.5663+10C>T (n.5663+10C>T)
c.4790+10C>T (n.4790+10C>T)
c.3929+10C>T (n.3929+10C>T)
n.5730+10C>T
n.5734+10C>T
 gnomAD v4
1g.1051826A=CA1146159767AGRNc.5651+11A= (n.5651+11A=)
c.5348+11A= (n.5348+11A=)
c.5336+11A= (n.5336+11A=)
c.558+11A=
c.5249+11A= (n.5249+11A=)
c.5663+11A= (n.5663+11A=)
c.4790+11A= (n.4790+11A=)
c.3929+11A= (n.3929+11A=)
n.5730+11A=
n.5734+11A=
1g.1051826A>GCA510123AGRNc.5651+11A>G (n.5651+11A>G)
c.5348+11A>G (n.5348+11A>G)
c.5336+11A>G (n.5336+11A>G)
c.558+11A>G
c.5249+11A>G (n.5249+11A>G)
c.5663+11A>G (n.5663+11A>G)
c.4790+11A>G (n.4790+11A>G)
c.3929+11A>G (n.3929+11A>G)
n.5730+11A>G
n.5734+11A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1051828C>ACA2574222228AGRNc.5651+13C>A (n.5651+13C>A)
c.5348+13C>A (n.5348+13C>A)
c.5336+13C>A (n.5336+13C>A)
c.558+13C>A
c.5249+13C>A (n.5249+13C>A)
c.5663+13C>A (n.5663+13C>A)
c.4790+13C>A (n.4790+13C>A)
c.3929+13C>A (n.3929+13C>A)
n.5730+13C>A
n.5734+13C>A
 gnomAD v4
1g.1051828C=CA1148759161AGRNc.5651+13C= (n.5651+13C=)
c.5348+13C= (n.5348+13C=)
c.5336+13C= (n.5336+13C=)
c.558+13C=
c.5249+13C= (n.5249+13C=)
c.5663+13C= (n.5663+13C=)
c.4790+13C= (n.4790+13C=)
c.3929+13C= (n.3929+13C=)
n.5730+13C=
n.5734+13C=
1g.1051828C>GCA520591574AGRNc.5651+13C>G (n.5651+13C>G)
c.5348+13C>G (n.5348+13C>G)
c.5336+13C>G (n.5336+13C>G)
c.558+13C>G
c.5249+13C>G (n.5249+13C>G)
c.5663+13C>G (n.5663+13C>G)
c.4790+13C>G (n.4790+13C>G)
c.3929+13C>G (n.3929+13C>G)
n.5730+13C>G
n.5734+13C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1051828C>TCA510124AGRNc.5651+13C>T (n.5651+13C>T)
c.5348+13C>T (n.5348+13C>T)
c.5336+13C>T (n.5336+13C>T)
c.558+13C>T
c.5249+13C>T (n.5249+13C>T)
c.5663+13C>T (n.5663+13C>T)
c.4790+13C>T (n.4790+13C>T)
c.3929+13C>T (n.3929+13C>T)
n.5730+13C>T
n.5734+13C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1051829C=CA1148759174AGRNc.5651+14C= (n.5651+14C=)
c.5348+14C= (n.5348+14C=)
c.5336+14C= (n.5336+14C=)
c.558+14C=
c.5249+14C= (n.5249+14C=)
c.5663+14C= (n.5663+14C=)
c.4790+14C= (n.4790+14C=)
c.3929+14C= (n.3929+14C=)
n.5730+14C=
n.5734+14C=
1g.1051829C>TCA510125AGRNc.5651+14C>T (n.5651+14C>T)
c.5348+14C>T (n.5348+14C>T)
c.5336+14C>T (n.5336+14C>T)
c.558+14C>T
c.5249+14C>T (n.5249+14C>T)
c.5663+14C>T (n.5663+14C>T)
c.4790+14C>T (n.4790+14C>T)
c.3929+14C>T (n.3929+14C>T)
n.5730+14C>T
n.5734+14C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1051830T>CCA2642495080AGRNc.5651+15T>C (n.5651+15T>C)
c.5348+15T>C (n.5348+15T>C)
c.5336+15T>C (n.5336+15T>C)
c.558+15T>C
c.5249+15T>C (n.5249+15T>C)
c.5663+15T>C (n.5663+15T>C)
c.4790+15T>C (n.4790+15T>C)
c.3929+15T>C (n.3929+15T>C)
n.5730+15T>C
n.5734+15T>C
 gnomAD v4
1g.1051831C=CA1148759184AGRNc.5651+16C= (n.5651+16C=)
c.5348+16C= (n.5348+16C=)
c.5336+16C= (n.5336+16C=)
c.558+16C=
c.5249+16C= (n.5249+16C=)
c.5663+16C= (n.5663+16C=)
c.4790+16C= (n.4790+16C=)
c.3929+16C= (n.3929+16C=)
n.5730+16C=
n.5734+16C=
1g.1051831C>TCA510126AGRNc.5651+16C>T (n.5651+16C>T)
c.5348+16C>T (n.5348+16C>T)
c.5336+16C>T (n.5336+16C>T)
c.558+16C>T
c.5249+16C>T (n.5249+16C>T)
c.5663+16C>T (n.5663+16C>T)
c.4790+16C>T (n.4790+16C>T)
c.3929+16C>T (n.3929+16C>T)
n.5730+16C>T
n.5734+16C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.1051833G>CCA2642495089AGRNc.5651+18G>C (n.5651+18G>C)
c.5348+18G>C (n.5348+18G>C)
c.5336+18G>C (n.5336+18G>C)
c.558+18G>C
c.5249+18G>C (n.5249+18G>C)
c.5663+18G>C (n.5663+18G>C)
c.4790+18G>C (n.4790+18G>C)
c.3929+18G>C (n.3929+18G>C)
n.5730+18G>C
n.5734+18G>C
 gnomAD v4
1g.1051834C=CA1148759190AGRNc.5651+19C= (n.5651+19C=)
c.5348+19C= (n.5348+19C=)
c.5336+19C= (n.5336+19C=)
c.558+19C=
c.5249+19C= (n.5249+19C=)
c.5663+19C= (n.5663+19C=)
c.4790+19C= (n.4790+19C=)
c.3929+19C= (n.3929+19C=)
n.5730+19C=
n.5734+19C=
1g.1051834C>TCA16702950AGRNc.5651+19C>T (n.5651+19C>T)
c.5348+19C>T (n.5348+19C>T)
c.5336+19C>T (n.5336+19C>T)
c.558+19C>T
c.5249+19C>T (n.5249+19C>T)
c.5663+19C>T (n.5663+19C>T)
c.4790+19C>T (n.4790+19C>T)
c.3929+19C>T (n.3929+19C>T)
n.5730+19C>T
n.5734+19C>T
 dbSNP gnomAD v3 gnomAD v4
1g.1051835T>CCA997658997AGRNc.5651+20T>C (n.5651+20T>C)
c.5348+20T>C (n.5348+20T>C)
c.5336+20T>C (n.5336+20T>C)
c.558+20T>C
c.5249+20T>C (n.5249+20T>C)
c.5663+20T>C (n.5663+20T>C)
c.4790+20T>C (n.4790+20T>C)
c.3929+20T>C (n.3929+20T>C)
n.5730+20T>C
n.5734+20T>C
 dbSNP gnomAD v3 gnomAD v4
1g.1051835T=CA1148759192AGRNc.5651+20T= (n.5651+20T=)
c.5348+20T= (n.5348+20T=)
c.5336+20T= (n.5336+20T=)
c.558+20T=
c.5249+20T= (n.5249+20T=)
c.5663+20T= (n.5663+20T=)
c.4790+20T= (n.4790+20T=)
c.3929+20T= (n.3929+20T=)
n.5730+20T=
n.5734+20T=
1g.1051836G>ACA510128AGRNc.5651+21G>A (n.5651+21G>A)
c.5348+21G>A (n.5348+21G>A)
c.5336+21G>A (n.5336+21G>A)
c.558+21G>A
c.5249+21G>A (n.5249+21G>A)
c.5663+21G>A (n.5663+21G>A)
c.4790+21G>A (n.4790+21G>A)
c.3929+21G>A (n.3929+21G>A)
n.5730+21G>A
n.5734+21G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1051836G>CCA510127AGRNc.5651+21G>C (n.5651+21G>C)
c.5348+21G>C (n.5348+21G>C)
c.5336+21G>C (n.5336+21G>C)
c.558+21G>C
c.5249+21G>C (n.5249+21G>C)
c.5663+21G>C (n.5663+21G>C)
c.4790+21G>C (n.4790+21G>C)
c.3929+21G>C (n.3929+21G>C)
n.5730+21G>C
n.5734+21G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1051836G=CA1148759198AGRNc.5651+21G= (n.5651+21G=)
c.5348+21G= (n.5348+21G=)
c.5336+21G= (n.5336+21G=)
c.558+21G=
c.5249+21G= (n.5249+21G=)
c.5663+21G= (n.5663+21G=)
c.4790+21G= (n.4790+21G=)
c.3929+21G= (n.3929+21G=)
n.5730+21G=
n.5734+21G=

Number of alleles fetched