Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.1049936_1049968delCA2742134937AGRNc.4778_4810del (p.Gln1593_Cys1603del)
c.4463_4495del (p.Gln1488_Cys1498del)
c.4364_4396del (p.Gln1455_Cys1465del)
c.3905_3937del (p.Gln1302_Cys1312del)
c.3044_3076del (p.Gln1015_Cys1025del)
n.4845_4877del
n.4849_4881del
1g.1049947_1049955delinsTGCCATGGGCA1148747573AGRNc.4789_4797delinsTGCCATGGG (p.Cys1597=)
c.4474_4482delinsTGCCATGGG (p.Cys1492=)
c.4375_4383delinsTGCCATGGG (p.Cys1459=)
c.3916_3924delinsTGCCATGGG (p.Cys1306=)
c.3055_3063delinsTGCCATGGG (p.Cys1019=)
n.4856_4864delinsTGCCATGGG
n.4860_4868delinsTGCCATGGG
1g.1049950_1049957delCA509644AGRNc.4792_4799del (p.His1598GlyfsTer20)
c.4477_4484del (p.His1493GlyfsTer20)
c.4378_4385del (p.His1460GlyfsTer20)
c.3919_3926del (p.His1307GlyfsTer20)
c.3058_3065del (p.His1020GlyfsTer20)
n.4859_4866del
n.4863_4870del
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1049954G>ACA337779426AGRNc.4796G>A (p.Gly1599Glu)
c.4481G>A (p.Gly1494Glu)
c.4382G>A (p.Gly1461Glu)
c.3923G>A (p.Gly1308Glu)
c.3062G>A (p.Gly1021Glu)
n.4863G>A
n.4867G>A
 gnomAD v4
1g.1049954G>CCA337779427AGRNc.4796G>C (p.Gly1599Ala)
c.4481G>C (p.Gly1494Ala)
c.4382G>C (p.Gly1461Ala)
c.3923G>C (p.Gly1308Ala)
c.3062G>C (p.Gly1021Ala)
n.4863G>C
n.4867G>C
1g.1049954G>TCA337779428AGRNc.4796G>T (p.Gly1599Val)
c.4481G>T (p.Gly1494Val)
c.4382G>T (p.Gly1461Val)
c.3923G>T (p.Gly1308Val)
c.3062G>T (p.Gly1021Val)
n.4863G>T
n.4867G>T
 gnomAD v4
1g.1049955G>ACA415758778AGRNc.4797G>A (p.Gly1599=)
c.4482G>A (p.Gly1494=)
c.4383G>A (p.Gly1461=)
c.3924G>A (p.Gly1308=)
c.3063G>A (p.Gly1021=)
n.4864G>A
n.4868G>A
 gnomAD v4
1g.1049955G>CCA415758781AGRNc.4797G>C (p.Gly1599=)
c.4482G>C (p.Gly1494=)
c.4383G>C (p.Gly1461=)
c.3924G>C (p.Gly1308=)
c.3063G>C (p.Gly1021=)
n.4864G>C
n.4868G>C
 dbSNP
1g.1049955G>TCA415758779AGRNc.4797G>T (p.Gly1599=)
c.4482G>T (p.Gly1494=)
c.4383G>T (p.Gly1461=)
c.3924G>T (p.Gly1308=)
c.3063G>T (p.Gly1021=)
n.4864G>T
n.4868G>T
1g.1049956G>ACA337779429AGRNc.4798G>A (p.Ala1600Thr)
c.4483G>A (p.Ala1495Thr)
c.4384G>A (p.Ala1462Thr)
c.3925G>A (p.Ala1309Thr)
c.3064G>A (p.Ala1022Thr)
n.4865G>A
n.4869G>A
 dbSNP gnomAD v2 gnomAD v4
1g.1049956G>CCA337779430AGRNc.4798G>C (p.Ala1600Pro)
c.4483G>C (p.Ala1495Pro)
c.4384G>C (p.Ala1462Pro)
c.3925G>C (p.Ala1309Pro)
c.3064G>C (p.Ala1022Pro)
n.4865G>C
n.4869G>C
1g.1049956G=CA1148747599AGRNc.4798G= (p.Ala1600=)
c.4483G= (p.Ala1495=)
c.4384G= (p.Ala1462=)
c.3925G= (p.Ala1309=)
c.3064G= (p.Ala1022=)
n.4865G=
n.4869G=
1g.1049956G>TCA337779431AGRNc.4798G>T (p.Ala1600Ser)
c.4483G>T (p.Ala1495Ser)
c.4384G>T (p.Ala1462Ser)
c.3925G>T (p.Ala1309Ser)
c.3064G>T (p.Ala1022Ser)
n.4865G>T
n.4869G>T
1g.1049957C>ACA337779433AGRNc.4799C>A (p.Ala1600Glu)
c.4484C>A (p.Ala1495Glu)
c.4385C>A (p.Ala1462Glu)
c.3926C>A (p.Ala1309Glu)
c.3065C>A (p.Ala1022Glu)
n.4866C>A
n.4870C>A
1g.1049957C=CA1143755028AGRNc.4799C= (p.Ala1600=)
c.4484C= (p.Ala1495=)
c.4385C= (p.Ala1462=)
c.3926C= (p.Ala1309=)
c.3065C= (p.Ala1022=)
n.4866C=
n.4870C=
1g.1049957C>GCA337779432AGRNc.4799C>G (p.Ala1600Gly)
c.4484C>G (p.Ala1495Gly)
c.4385C>G (p.Ala1462Gly)
c.3926C>G (p.Ala1309Gly)
c.3065C>G (p.Ala1022Gly)
n.4866C>G
n.4870C>G
1g.1049957C>TCA509645AGRNc.4799C>T (p.Ala1600Val)
c.4484C>T (p.Ala1495Val)
c.4385C>T (p.Ala1462Val)
c.3926C>T (p.Ala1309Val)
c.3065C>T (p.Ala1022Val)
n.4866C>T
n.4870C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049957_1049958delinsCGCA1148747606AGRNc.4799_4800delinsCG (p.Ala1600=)
c.4484_4485delinsCG (p.Ala1495=)
c.4385_4386delinsCG (p.Ala1462=)
c.3926_3927delinsCG (p.Ala1309=)
c.3065_3066delinsCG (p.Ala1022=)
n.4866_4867delinsCG
n.4870_4871delinsCG
1g.1049958G>ACA509646AGRNc.4800G>A (p.Ala1600=)
c.4485G>A (p.Ala1495=)
c.4386G>A (p.Ala1462=)
c.3927G>A (p.Ala1309=)
c.3066G>A (p.Ala1022=)
n.4867G>A
n.4871G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049958G>CCA415758784AGRNc.4800G>C (p.Ala1600=)
c.4485G>C (p.Ala1495=)
c.4386G>C (p.Ala1462=)
c.3927G>C (p.Ala1309=)
c.3066G>C (p.Ala1022=)
n.4867G>C
n.4871G>C
1g.1049958G=CA1143645348AGRNc.4800G= (p.Ala1600=)
c.4485G= (p.Ala1495=)
c.4386G= (p.Ala1462=)
c.3927G= (p.Ala1309=)
c.3066G= (p.Ala1022=)
n.4867G=
n.4871G=
1g.1049958G>TCA415758785AGRNc.4800G>T (p.Ala1600=)
c.4485G>T (p.Ala1495=)
c.4386G>T (p.Ala1462=)
c.3927G>T (p.Ala1309=)
c.3066G>T (p.Ala1022=)
n.4867G>T
n.4871G>T
1g.1049959delCA1148747613AGRNc.4801del (p.Ala1601ArgfsTer?)
c.4486del (p.Ala1496ArgfsTer?)
c.4387del (p.Ala1463ArgfsTer?)
c.3928del (p.Ala1310ArgfsTer?)
c.3067del (p.Ala1023ArgfsTer?)
n.4868del
n.4872del
 dbSNP
1g.1049959G>ACA337779434AGRNc.4801G>A (p.Ala1601Thr)
c.4486G>A (p.Ala1496Thr)
c.4387G>A (p.Ala1463Thr)
c.3928G>A (p.Ala1310Thr)
c.3067G>A (p.Ala1023Thr)
n.4868G>A
n.4872G>A
 gnomAD v4
1g.1049959G>CCA337779435AGRNc.4801G>C (p.Ala1601Pro)
c.4486G>C (p.Ala1496Pro)
c.4387G>C (p.Ala1463Pro)
c.3928G>C (p.Ala1310Pro)
c.3067G>C (p.Ala1023Pro)
n.4868G>C
n.4872G>C
1g.1049959G>TCA337779436AGRNc.4801G>T (p.Ala1601Ser)
c.4486G>T (p.Ala1496Ser)
c.4387G>T (p.Ala1463Ser)
c.3928G>T (p.Ala1310Ser)
c.3067G>T (p.Ala1023Ser)
n.4868G>T
n.4872G>T
1g.1049960C>ACA337779437AGRNc.4802C>A (p.Ala1601Glu)
c.4487C>A (p.Ala1496Glu)
c.4388C>A (p.Ala1463Glu)
c.3929C>A (p.Ala1310Glu)
c.3068C>A (p.Ala1023Glu)
n.4869C>A
n.4873C>A
1g.1049960C=CA1148747637AGRNc.4802C= (p.Ala1601=)
c.4487C= (p.Ala1496=)
c.4388C= (p.Ala1463=)
c.3929C= (p.Ala1310=)
c.3068C= (p.Ala1023=)
n.4869C=
n.4873C=
1g.1049960C>GCA337779438AGRNc.4802C>G (p.Ala1601Gly)
c.4487C>G (p.Ala1496Gly)
c.4388C>G (p.Ala1463Gly)
c.3929C>G (p.Ala1310Gly)
c.3068C>G (p.Ala1023Gly)
n.4869C>G
n.4873C>G
1g.1049960C>TCA509647AGRNc.4802C>T (p.Ala1601Val)
c.4487C>T (p.Ala1496Val)
c.4388C>T (p.Ala1463Val)
c.3929C>T (p.Ala1310Val)
c.3068C>T (p.Ala1023Val)
n.4869C>T
n.4873C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049961G>ACA509649AGRNc.4803G>A (p.Ala1601=)
c.4488G>A (p.Ala1496=)
c.4389G>A (p.Ala1463=)
c.3930G>A (p.Ala1310=)
c.3069G>A (p.Ala1023=)
n.4870G>A
n.4874G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049961G>CCA415758792AGRNc.4803G>C (p.Ala1601=)
c.4488G>C (p.Ala1496=)
c.4389G>C (p.Ala1463=)
c.3930G>C (p.Ala1310=)
c.3069G>C (p.Ala1023=)
n.4870G>C
n.4874G>C
 gnomAD v4
1g.1049961G=CA1144236606AGRNc.4803G= (p.Ala1601=)
c.4488G= (p.Ala1496=)
c.4389G= (p.Ala1463=)
c.3930G= (p.Ala1310=)
c.3069G= (p.Ala1023=)
n.4870G=
n.4874G=
1g.1049961G>TCA509648AGRNc.4803G>T (p.Ala1601=)
c.4488G>T (p.Ala1496=)
c.4389G>T (p.Ala1463=)
c.3930G>T (p.Ala1310=)
c.3069G>T (p.Ala1023=)
n.4870G>T
n.4874G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049962C>ACA337779439AGRNc.4804C>A (p.Pro1602Thr)
c.4489C>A (p.Pro1497Thr)
c.4390C>A (p.Pro1464Thr)
c.3931C>A (p.Pro1311Thr)
c.3070C>A (p.Pro1024Thr)
n.4871C>A
n.4875C>A
1g.1049962C>GCA337779440AGRNc.4804C>G (p.Pro1602Ala)
c.4489C>G (p.Pro1497Ala)
c.4390C>G (p.Pro1464Ala)
c.3931C>G (p.Pro1311Ala)
c.3070C>G (p.Pro1024Ala)
n.4871C>G
n.4875C>G
1g.1049962C>TCA337779441AGRNc.4804C>T (p.Pro1602Ser)
c.4489C>T (p.Pro1497Ser)
c.4390C>T (p.Pro1464Ser)
c.3931C>T (p.Pro1311Ser)
c.3070C>T (p.Pro1024Ser)
n.4871C>T
n.4875C>T
1g.1049963C>ACA337779443AGRNc.4805C>A (p.Pro1602His)
c.4490C>A (p.Pro1497His)
c.4391C>A (p.Pro1464His)
c.3932C>A (p.Pro1311His)
c.3071C>A (p.Pro1024His)
n.4872C>A
n.4876C>A
 COSMIC
1g.1049963C=CA1148747661AGRNc.4805C= (p.Pro1602=)
c.4490C= (p.Pro1497=)
c.4391C= (p.Pro1464=)
c.3932C= (p.Pro1311=)
c.3071C= (p.Pro1024=)
n.4872C=
n.4876C=
1g.1049963C>GCA337779442AGRNc.4805C>G (p.Pro1602Arg)
c.4490C>G (p.Pro1497Arg)
c.4391C>G (p.Pro1464Arg)
c.3932C>G (p.Pro1311Arg)
c.3071C>G (p.Pro1024Arg)
n.4872C>G
n.4876C>G
1g.1049963C>TCA16700801AGRNc.4805C>T (p.Pro1602Leu)
c.4490C>T (p.Pro1497Leu)
c.4391C>T (p.Pro1464Leu)
c.3932C>T (p.Pro1311Leu)
c.3071C>T (p.Pro1024Leu)
n.4872C>T
n.4876C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1049964C>ACA415758801AGRNc.4806C>A (p.Pro1602=)
c.4491C>A (p.Pro1497=)
c.4392C>A (p.Pro1464=)
c.3933C>A (p.Pro1311=)
c.3072C>A (p.Pro1024=)
n.4873C>A
n.4877C>A
1g.1049964C=CA1148747675AGRNc.4806C= (p.Pro1602=)
c.4491C= (p.Pro1497=)
c.4392C= (p.Pro1464=)
c.3933C= (p.Pro1311=)
c.3072C= (p.Pro1024=)
n.4873C=
n.4877C=
1g.1049964C>GCA415758800AGRNc.4806C>G (p.Pro1602=)
c.4491C>G (p.Pro1497=)
c.4392C>G (p.Pro1464=)
c.3933C>G (p.Pro1311=)
c.3072C>G (p.Pro1024=)
n.4873C>G
n.4877C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1049964C>TCA415758798AGRNc.4806C>T (p.Pro1602=)
c.4491C>T (p.Pro1497=)
c.4392C>T (p.Pro1464=)
c.3933C>T (p.Pro1311=)
c.3072C>T (p.Pro1024=)
n.4873C>T
n.4877C>T
1g.1049965T>ACA337779444AGRNc.4807T>A (p.Cys1603Ser)
c.4492T>A (p.Cys1498Ser)
c.4393T>A (p.Cys1465Ser)
c.3934T>A (p.Cys1312Ser)
c.3073T>A (p.Cys1025Ser)
n.4874T>A
n.4878T>A
1g.1049965T>CCA337779445AGRNc.4807T>C (p.Cys1603Arg)
c.4492T>C (p.Cys1498Arg)
c.4393T>C (p.Cys1465Arg)
c.3934T>C (p.Cys1312Arg)
c.3073T>C (p.Cys1025Arg)
n.4874T>C
n.4878T>C
1g.1049965T>GCA337779446AGRNc.4807T>G (p.Cys1603Gly)
c.4492T>G (p.Cys1498Gly)
c.4393T>G (p.Cys1465Gly)
c.3934T>G (p.Cys1312Gly)
c.3073T>G (p.Cys1025Gly)
n.4874T>G
n.4878T>G
1g.1049966G>ACA337779447AGRNc.4808G>A (p.Cys1603Tyr)
c.4493G>A (p.Cys1498Tyr)
c.4394G>A (p.Cys1465Tyr)
c.3935G>A (p.Cys1312Tyr)
c.3074G>A (p.Cys1025Tyr)
n.4875G>A
n.4879G>A
1g.1049966G>CCA337779448AGRNc.4808G>C (p.Cys1603Ser)
c.4493G>C (p.Cys1498Ser)
c.4394G>C (p.Cys1465Ser)
c.3935G>C (p.Cys1312Ser)
c.3074G>C (p.Cys1025Ser)
n.4875G>C
n.4879G>C
1g.1049966G>TCA337779449AGRNc.4808G>T (p.Cys1603Phe)
c.4493G>T (p.Cys1498Phe)
c.4394G>T (p.Cys1465Phe)
c.3935G>T (p.Cys1312Phe)
c.3074G>T (p.Cys1025Phe)
n.4875G>T
n.4879G>T
1g.1049967C>ACA337779451AGRNc.4809C>A (p.Cys1603Ter)
c.4494C>A (p.Cys1498Ter)
c.4395C>A (p.Cys1465Ter)
c.3936C>A (p.Cys1312Ter)
c.3075C>A (p.Cys1025Ter)
n.4876C>A
n.4880C>A
1g.1049967C=CA1148747695AGRNc.4809C= (p.Cys1603=)
c.4494C= (p.Cys1498=)
c.4395C= (p.Cys1465=)
c.3936C= (p.Cys1312=)
c.3075C= (p.Cys1025=)
n.4876C=
n.4880C=
1g.1049967C>GCA337779450AGRNc.4809C>G (p.Cys1603Trp)
c.4494C>G (p.Cys1498Trp)
c.4395C>G (p.Cys1465Trp)
c.3936C>G (p.Cys1312Trp)
c.3075C>G (p.Cys1025Trp)
n.4876C>G
n.4880C>G
 dbSNP
1g.1049967C>TCA415758803AGRNc.4809C>T (p.Cys1603=)
c.4494C>T (p.Cys1498=)
c.4395C>T (p.Cys1465=)
c.3936C>T (p.Cys1312=)
c.3075C>T (p.Cys1025=)
n.4876C>T
n.4880C>T
1g.1049968C>ACA337779452AGRNc.4810C>A (p.Arg1604Ser)
c.4495C>A (p.Arg1499Ser)
c.4396C>A (p.Arg1466Ser)
c.3937C>A (p.Arg1313Ser)
c.3076C>A (p.Arg1026Ser)
n.4877C>A
n.4881C>A
1g.1049968C=CA1143477054AGRNc.4810C= (p.Arg1604=)
c.4495C= (p.Arg1499=)
c.4396C= (p.Arg1466=)
c.3937C= (p.Arg1313=)
c.3076C= (p.Arg1026=)
n.4877C=
n.4881C=
1g.1049968C>GCA509651AGRNc.4810C>G (p.Arg1604Gly)
c.4495C>G (p.Arg1499Gly)
c.4396C>G (p.Arg1466Gly)
c.3937C>G (p.Arg1313Gly)
c.3076C>G (p.Arg1026Gly)
n.4877C>G
n.4881C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049968C>TCA509650AGRNc.4810C>T (p.Arg1604Cys)
c.4495C>T (p.Arg1499Cys)
c.4396C>T (p.Arg1466Cys)
c.3937C>T (p.Arg1313Cys)
c.3076C>T (p.Arg1026Cys)
n.4877C>T
n.4881C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049969G>ACA509652AGRNc.4811G>A (p.Arg1604His)
c.4496G>A (p.Arg1499His)
c.4397G>A (p.Arg1466His)
c.3938G>A (p.Arg1313His)
c.3077G>A (p.Arg1026His)
n.4878G>A
n.4882G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049969G>CCA337779453AGRNc.4811G>C (p.Arg1604Pro)
c.4496G>C (p.Arg1499Pro)
c.4397G>C (p.Arg1466Pro)
c.3938G>C (p.Arg1313Pro)
c.3077G>C (p.Arg1026Pro)
n.4878G>C
n.4882G>C
 COSMIC
1g.1049969G=CA1148747705AGRNc.4811G= (p.Arg1604=)
c.4496G= (p.Arg1499=)
c.4397G= (p.Arg1466=)
c.3938G= (p.Arg1313=)
c.3077G= (p.Arg1026=)
n.4878G=
n.4882G=
1g.1049969G>TCA337779454AGRNc.4811G>T (p.Arg1604Leu)
c.4496G>T (p.Arg1499Leu)
c.4397G>T (p.Arg1466Leu)
c.3938G>T (p.Arg1313Leu)
c.3077G>T (p.Arg1026Leu)
n.4878G>T
n.4882G>T
 gnomAD v4
1g.1049970T>ACA415758808AGRNc.4812T>A (p.Arg1604=)
c.4497T>A (p.Arg1499=)
c.4398T>A (p.Arg1466=)
c.3939T>A (p.Arg1313=)
c.3078T>A (p.Arg1026=)
n.4879T>A
n.4883T>A
1g.1049970T>CCA415758811AGRNc.4812T>C (p.Arg1604=)
c.4497T>C (p.Arg1499=)
c.4398T>C (p.Arg1466=)
c.3939T>C (p.Arg1313=)
c.3078T>C (p.Arg1026=)
n.4879T>C
n.4883T>C
1g.1049970T>GCA415758810AGRNc.4812T>G (p.Arg1604=)
c.4497T>G (p.Arg1499=)
c.4398T>G (p.Arg1466=)
c.3939T>G (p.Arg1313=)
c.3078T>G (p.Arg1026=)
n.4879T>G
n.4883T>G
1g.1049971G>ACA337779455AGRNc.4813G>A (p.Val1605Met)
c.4498G>A (p.Val1500Met)
c.4399G>A (p.Val1467Met)
c.3940G>A (p.Val1314Met)
c.3079G>A (p.Val1027Met)
n.4880G>A
n.4884G>A
1g.1049971G>CCA337779457AGRNc.4813G>C (p.Val1605Leu)
c.4498G>C (p.Val1500Leu)
c.4399G>C (p.Val1467Leu)
c.3940G>C (p.Val1314Leu)
c.3079G>C (p.Val1027Leu)
n.4880G>C
n.4884G>C
 dbSNP
1g.1049971G=CA1148747707AGRNc.4813G= (p.Val1605=)
c.4498G= (p.Val1500=)
c.4399G= (p.Val1467=)
c.3940G= (p.Val1314=)
c.3079G= (p.Val1027=)
n.4880G=
n.4884G=
1g.1049971G>TCA337779456AGRNc.4813G>T (p.Val1605Leu)
c.4498G>T (p.Val1500Leu)
c.4399G>T (p.Val1467Leu)
c.3940G>T (p.Val1314Leu)
c.3079G>T (p.Val1027Leu)
n.4880G>T
n.4884G>T
1g.1049972T>ACA337779458AGRNc.4814T>A (p.Val1605Glu)
c.4499T>A (p.Val1500Glu)
c.4400T>A (p.Val1467Glu)
c.3941T>A (p.Val1314Glu)
c.3080T>A (p.Val1027Glu)
n.4881T>A
n.4885T>A
1g.1049972T>CCA337779459AGRNc.4814T>C (p.Val1605Ala)
c.4499T>C (p.Val1500Ala)
c.4400T>C (p.Val1467Ala)
c.3941T>C (p.Val1314Ala)
c.3080T>C (p.Val1027Ala)
n.4881T>C
n.4885T>C
1g.1049972T>GCA337779460AGRNc.4814T>G (p.Val1605Gly)
c.4499T>G (p.Val1500Gly)
c.4400T>G (p.Val1467Gly)
c.3941T>G (p.Val1314Gly)
c.3080T>G (p.Val1027Gly)
n.4881T>G
n.4885T>G
1g.1049973G>ACA415758815AGRNc.4815G>A (p.Val1605=)
c.4500G>A (p.Val1500=)
c.4401G>A (p.Val1467=)
c.3942G>A (p.Val1314=)
c.3081G>A (p.Val1027=)
n.4882G>A
n.4886G>A
1g.1049973G>CCA415758816AGRNc.4815G>C (p.Val1605=)
c.4500G>C (p.Val1500=)
c.4401G>C (p.Val1467=)
c.3942G>C (p.Val1314=)
c.3081G>C (p.Val1027=)
n.4882G>C
n.4886G>C
1g.1049973G>TCA415758817AGRNc.4815G>T (p.Val1605=)
c.4500G>T (p.Val1500=)
c.4401G>T (p.Val1467=)
c.3942G>T (p.Val1314=)
c.3081G>T (p.Val1027=)
n.4882G>T
n.4886G>T
1g.1049974C>ACA337779461AGRNc.4816C>A (p.Leu1606Met)
c.4501C>A (p.Leu1501Met)
c.4402C>A (p.Leu1468Met)
c.3943C>A (p.Leu1315Met)
c.3082C>A (p.Leu1028Met)
n.4883C>A
n.4887C>A
1g.1049974C>GCA337779462AGRNc.4816C>G (p.Leu1606Val)
c.4501C>G (p.Leu1501Val)
c.4402C>G (p.Leu1468Val)
c.3943C>G (p.Leu1315Val)
c.3082C>G (p.Leu1028Val)
n.4883C>G
n.4887C>G
1g.1049974C>TCA415758818AGRNc.4816C>T (p.Leu1606=)
c.4501C>T (p.Leu1501=)
c.4402C>T (p.Leu1468=)
c.3943C>T (p.Leu1315=)
c.3082C>T (p.Leu1028=)
n.4883C>T
n.4887C>T
1g.1049975T>ACA337779463AGRNc.4817T>A (p.Leu1606Gln)
c.4502T>A (p.Leu1501Gln)
c.4403T>A (p.Leu1468Gln)
c.3944T>A (p.Leu1315Gln)
c.3083T>A (p.Leu1028Gln)
n.4884T>A
n.4888T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1049975T>CCA337779464AGRNc.4817T>C (p.Leu1606Pro)
c.4502T>C (p.Leu1501Pro)
c.4403T>C (p.Leu1468Pro)
c.3944T>C (p.Leu1315Pro)
c.3083T>C (p.Leu1028Pro)
n.4884T>C
n.4888T>C
1g.1049975T>GCA337779465AGRNc.4817T>G (p.Leu1606Arg)
c.4502T>G (p.Leu1501Arg)
c.4403T>G (p.Leu1468Arg)
c.3944T>G (p.Leu1315Arg)
c.3083T>G (p.Leu1028Arg)
n.4884T>G
n.4888T>G
1g.1049975T=CA1148747712AGRNc.4817T= (p.Leu1606=)
c.4502T= (p.Leu1501=)
c.4403T= (p.Leu1468=)
c.3944T= (p.Leu1315=)
c.3083T= (p.Leu1028=)
n.4884T=
n.4888T=
1g.1049976G>ACA415758820AGRNc.4818G>A (p.Leu1606=)
c.4503G>A (p.Leu1501=)
c.4404G>A (p.Leu1468=)
c.3945G>A (p.Leu1315=)
c.3084G>A (p.Leu1028=)
n.4885G>A
n.4889G>A
1g.1049976G>CCA415758822AGRNc.4818G>C (p.Leu1606=)
c.4503G>C (p.Leu1501=)
c.4404G>C (p.Leu1468=)
c.3945G>C (p.Leu1315=)
c.3084G>C (p.Leu1028=)
n.4885G>C
n.4889G>C
1g.1049976G>TCA415758824AGRNc.4818G>T (p.Leu1606=)
c.4503G>T (p.Leu1501=)
c.4404G>T (p.Leu1468=)
c.3945G>T (p.Leu1315=)
c.3084G>T (p.Leu1028=)
n.4885G>T
n.4889G>T
1g.1049977C>ACA337779466AGRNc.4819C>A (p.Pro1607Thr)
c.4504C>A (p.Pro1502Thr)
c.4405C>A (p.Pro1469Thr)
c.3946C>A (p.Pro1316Thr)
c.3085C>A (p.Pro1029Thr)
n.4886C>A
n.4890C>A
1g.1049977C>GCA337779467AGRNc.4819C>G (p.Pro1607Ala)
c.4504C>G (p.Pro1502Ala)
c.4405C>G (p.Pro1469Ala)
c.3946C>G (p.Pro1316Ala)
c.3085C>G (p.Pro1029Ala)
n.4886C>G
n.4890C>G
 gnomAD v4
1g.1049977C>TCA337779468AGRNc.4819C>T (p.Pro1607Ser)
c.4504C>T (p.Pro1502Ser)
c.4405C>T (p.Pro1469Ser)
c.3946C>T (p.Pro1316Ser)
c.3085C>T (p.Pro1029Ser)
n.4886C>T
n.4890C>T
1g.1049978C>ACA337779469AGRNc.4820C>A (p.Pro1607His)
c.4505C>A (p.Pro1502His)
c.4406C>A (p.Pro1469His)
c.3947C>A (p.Pro1316His)
c.3086C>A (p.Pro1029His)
n.4887C>A
n.4891C>A
1g.1049978C>GCA337779471AGRNc.4820C>G (p.Pro1607Arg)
c.4505C>G (p.Pro1502Arg)
c.4406C>G (p.Pro1469Arg)
c.3947C>G (p.Pro1316Arg)
c.3086C>G (p.Pro1029Arg)
n.4887C>G
n.4891C>G
1g.1049978C>TCA337779470AGRNc.4820C>T (p.Pro1607Leu)
c.4505C>T (p.Pro1502Leu)
c.4406C>T (p.Pro1469Leu)
c.3947C>T (p.Pro1316Leu)
c.3086C>T (p.Pro1029Leu)
n.4887C>T
n.4891C>T
 gnomAD v4
1g.1049979C>ACA415758828AGRNc.4821C>A (p.Pro1607=)
c.4506C>A (p.Pro1502=)
c.4407C>A (p.Pro1469=)
c.3948C>A (p.Pro1316=)
c.3087C>A (p.Pro1029=)
n.4888C>A
n.4892C>A
1g.1049979C=CA1142308223AGRNc.4821C= (p.Pro1607=)
c.4506C= (p.Pro1502=)
c.4407C= (p.Pro1469=)
c.3948C= (p.Pro1316=)
c.3087C= (p.Pro1029=)
n.4888C=
n.4892C=
1g.1049979C>GCA415758826AGRNc.4821C>G (p.Pro1607=)
c.4506C>G (p.Pro1502=)
c.4407C>G (p.Pro1469=)
c.3948C>G (p.Pro1316=)
c.3087C>G (p.Pro1029=)
n.4888C>G
n.4892C>G
 dbSNP gnomAD v4
1g.1049979C>TCA509653AGRNc.4821C>T (p.Pro1607=)
c.4506C>T (p.Pro1502=)
c.4407C>T (p.Pro1469=)
c.3948C>T (p.Pro1316=)
c.3087C>T (p.Pro1029=)
n.4888C>T
n.4892C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049980G>ACA509654AGRNc.4822G>A (p.Glu1608Lys)
c.4507G>A (p.Glu1503Lys)
c.4408G>A (p.Glu1470Lys)
c.3949G>A (p.Glu1317Lys)
c.3088G>A (p.Glu1030Lys)
n.4889G>A
n.4893G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.1049980G>CCA337779472AGRNc.4822G>C (p.Glu1608Gln)
c.4507G>C (p.Glu1503Gln)
c.4408G>C (p.Glu1470Gln)
c.3949G>C (p.Glu1317Gln)
c.3088G>C (p.Glu1030Gln)
n.4889G>C
n.4893G>C
 COSMIC
1g.1049980G=CA1148747725AGRNc.4822G= (p.Glu1608=)
c.4507G= (p.Glu1503=)
c.4408G= (p.Glu1470=)
c.3949G= (p.Glu1317=)
c.3088G= (p.Glu1030=)
n.4889G=
n.4893G=
1g.1049980G>TCA337779473AGRNc.4822G>T (p.Glu1608Ter)
c.4507G>T (p.Glu1503Ter)
c.4408G>T (p.Glu1470Ter)
c.3949G>T (p.Glu1317Ter)
c.3088G>T (p.Glu1030Ter)
n.4889G>T
n.4893G>T
 gnomAD v4
1g.1049981A>CCA337779474AGRNc.4823A>C (p.Glu1608Ala)
c.4508A>C (p.Glu1503Ala)
c.4409A>C (p.Glu1470Ala)
c.3950A>C (p.Glu1317Ala)
c.3089A>C (p.Glu1030Ala)
n.4890A>C
n.4894A>C
1g.1049981A>GCA337779475AGRNc.4823A>G (p.Glu1608Gly)
c.4508A>G (p.Glu1503Gly)
c.4409A>G (p.Glu1470Gly)
c.3950A>G (p.Glu1317Gly)
c.3089A>G (p.Glu1030Gly)
n.4890A>G
n.4894A>G
 gnomAD v4
1g.1049981A>TCA337779476AGRNc.4823A>T (p.Glu1608Val)
c.4508A>T (p.Glu1503Val)
c.4409A>T (p.Glu1470Val)
c.3950A>T (p.Glu1317Val)
c.3089A>T (p.Glu1030Val)
n.4890A>T
n.4894A>T
1g.1049982G>ACA415758833AGRNc.4824G>A (p.Glu1608=)
c.4509G>A (p.Glu1503=)
c.4410G>A (p.Glu1470=)
c.3951G>A (p.Glu1317=)
c.3090G>A (p.Glu1030=)
n.4891G>A
n.4895G>A
 dbSNP
1g.1049982G>CCA337779477AGRNc.4824G>C (p.Glu1608Asp)
c.4509G>C (p.Glu1503Asp)
c.4410G>C (p.Glu1470Asp)
c.3951G>C (p.Glu1317Asp)
c.3090G>C (p.Glu1030Asp)
n.4891G>C
n.4895G>C
1g.1049982G=CA1148747750AGRNc.4824G= (p.Glu1608=)
c.4509G= (p.Glu1503=)
c.4410G= (p.Glu1470=)
c.3951G= (p.Glu1317=)
c.3090G= (p.Glu1030=)
n.4891G=
n.4895G=
1g.1049982G>TCA337779478AGRNc.4824G>T (p.Glu1608Asp)
c.4509G>T (p.Glu1503Asp)
c.4410G>T (p.Glu1470Asp)
c.3951G>T (p.Glu1317Asp)
c.3090G>T (p.Glu1030Asp)
n.4891G>T
n.4895G>T
1g.1049983G>ACA337779479AGRNc.4825G>A (p.Gly1609Ser)
c.4510G>A (p.Gly1504Ser)
c.4411G>A (p.Gly1471Ser)
c.3952G>A (p.Gly1318Ser)
c.3091G>A (p.Gly1031Ser)
n.4892G>A
n.4896G>A
 ClinVar dbSNP gnomAD v4
1g.1049983G>CCA337779481AGRNc.4825G>C (p.Gly1609Arg)
c.4510G>C (p.Gly1504Arg)
c.4411G>C (p.Gly1471Arg)
c.3952G>C (p.Gly1318Arg)
c.3091G>C (p.Gly1031Arg)
n.4892G>C
n.4896G>C
1g.1049983G=CA1148747761AGRNc.4825G= (p.Gly1609=)
c.4510G= (p.Gly1504=)
c.4411G= (p.Gly1471=)
c.3952G= (p.Gly1318=)
c.3091G= (p.Gly1031=)
n.4892G=
n.4896G=
1g.1049983G>TCA337779480AGRNc.4825G>T (p.Gly1609Cys)
c.4510G>T (p.Gly1504Cys)
c.4411G>T (p.Gly1471Cys)
c.3952G>T (p.Gly1318Cys)
c.3091G>T (p.Gly1031Cys)
n.4892G>T
n.4896G>T
 gnomAD v4
1g.1049984G>ACA509655AGRNc.4826G>A (p.Gly1609Asp)
c.4511G>A (p.Gly1504Asp)
c.4412G>A (p.Gly1471Asp)
c.3953G>A (p.Gly1318Asp)
c.3092G>A (p.Gly1031Asp)
n.4893G>A
n.4897G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1049984G>CCA337779482AGRNc.4826G>C (p.Gly1609Ala)
c.4511G>C (p.Gly1504Ala)
c.4412G>C (p.Gly1471Ala)
c.3953G>C (p.Gly1318Ala)
c.3092G>C (p.Gly1031Ala)
n.4893G>C
n.4897G>C
1g.1049984G=CA1148747763AGRNc.4826G= (p.Gly1609=)
c.4511G= (p.Gly1504=)
c.4412G= (p.Gly1471=)
c.3953G= (p.Gly1318=)
c.3092G= (p.Gly1031=)
n.4893G=
n.4897G=
1g.1049984G>TCA337779483AGRNc.4826G>T (p.Gly1609Val)
c.4511G>T (p.Gly1504Val)
c.4412G>T (p.Gly1471Val)
c.3953G>T (p.Gly1318Val)
c.3092G>T (p.Gly1031Val)
n.4893G>T
n.4897G>T
1g.1049985T>ACA415758838AGRNc.4827T>A (p.Gly1609=)
c.4512T>A (p.Gly1504=)
c.4413T>A (p.Gly1471=)
c.3954T>A (p.Gly1318=)
c.3093T>A (p.Gly1031=)
n.4894T>A
n.4898T>A
1g.1049985T>CCA509656AGRNc.4827T>C (p.Gly1609=)
c.4512T>C (p.Gly1504=)
c.4413T>C (p.Gly1471=)
c.3954T>C (p.Gly1318=)
c.3093T>C (p.Gly1031=)
n.4894T>C
n.4898T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049985T>GCA415758839AGRNc.4827T>G (p.Gly1609=)
c.4512T>G (p.Gly1504=)
c.4413T>G (p.Gly1471=)
c.3954T>G (p.Gly1318=)
c.3093T>G (p.Gly1031=)
n.4894T>G
n.4898T>G
1g.1049985T=CA1148747770AGRNc.4827T= (p.Gly1609=)
c.4512T= (p.Gly1504=)
c.4413T= (p.Gly1471=)
c.3954T= (p.Gly1318=)
c.3093T= (p.Gly1031=)
n.4894T=
n.4898T=
1g.1049986G>ACA337779486AGRNc.4828G>A (p.Gly1610Ser)
c.4513G>A (p.Gly1505Ser)
c.4414G>A (p.Gly1472Ser)
c.3955G>A (p.Gly1319Ser)
c.3094G>A (p.Gly1032Ser)
n.4895G>A
n.4899G>A
 gnomAD v4
1g.1049986G>CCA337779484AGRNc.4828G>C (p.Gly1610Arg)
c.4513G>C (p.Gly1505Arg)
c.4414G>C (p.Gly1472Arg)
c.3955G>C (p.Gly1319Arg)
c.3094G>C (p.Gly1032Arg)
n.4895G>C
n.4899G>C
1g.1049986G>TCA337779485AGRNc.4828G>T (p.Gly1610Cys)
c.4513G>T (p.Gly1505Cys)
c.4414G>T (p.Gly1472Cys)
c.3955G>T (p.Gly1319Cys)
c.3094G>T (p.Gly1032Cys)
n.4895G>T
n.4899G>T
1g.1049987G>ACA337779487AGRNc.4829G>A (p.Gly1610Asp)
c.4514G>A (p.Gly1505Asp)
c.4415G>A (p.Gly1472Asp)
c.3956G>A (p.Gly1319Asp)
c.3095G>A (p.Gly1032Asp)
n.4896G>A
n.4900G>A
 gnomAD v4
1g.1049987G>CCA337779488AGRNc.4829G>C (p.Gly1610Ala)
c.4514G>C (p.Gly1505Ala)
c.4415G>C (p.Gly1472Ala)
c.3956G>C (p.Gly1319Ala)
c.3095G>C (p.Gly1032Ala)
n.4896G>C
n.4900G>C
1g.1049987G>TCA337779489AGRNc.4829G>T (p.Gly1610Val)
c.4514G>T (p.Gly1505Val)
c.4415G>T (p.Gly1472Val)
c.3956G>T (p.Gly1319Val)
c.3095G>T (p.Gly1032Val)
n.4896G>T
n.4900G>T
1g.1049988T>ACA415758841AGRNc.4830T>A (p.Gly1610=)
c.4515T>A (p.Gly1505=)
c.4416T>A (p.Gly1472=)
c.3957T>A (p.Gly1319=)
c.3096T>A (p.Gly1032=)
n.4897T>A
n.4901T>A
1g.1049988T>CCA415758842AGRNc.4830T>C (p.Gly1610=)
c.4515T>C (p.Gly1505=)
c.4416T>C (p.Gly1472=)
c.3957T>C (p.Gly1319=)
c.3096T>C (p.Gly1032=)
n.4897T>C
n.4901T>C
1g.1049988T>GCA415758843AGRNc.4830T>G (p.Gly1610=)
c.4515T>G (p.Gly1505=)
c.4416T>G (p.Gly1472=)
c.3957T>G (p.Gly1319=)
c.3096T>G (p.Gly1032=)
n.4897T>G
n.4901T>G
1g.1049989G>ACA337779490AGRNc.4831G>A (p.Ala1611Thr)
c.4516G>A (p.Ala1506Thr)
c.4417G>A (p.Ala1473Thr)
c.3958G>A (p.Ala1320Thr)
c.3097G>A (p.Ala1033Thr)
n.4898G>A
n.4902G>A
1g.1049989G>CCA337779491AGRNc.4831G>C (p.Ala1611Pro)
c.4516G>C (p.Ala1506Pro)
c.4417G>C (p.Ala1473Pro)
c.3958G>C (p.Ala1320Pro)
c.3097G>C (p.Ala1033Pro)
n.4898G>C
n.4902G>C
1g.1049989G>TCA337779492AGRNc.4831G>T (p.Ala1611Ser)
c.4516G>T (p.Ala1506Ser)
c.4417G>T (p.Ala1473Ser)
c.3958G>T (p.Ala1320Ser)
c.3097G>T (p.Ala1033Ser)
n.4898G>T
n.4902G>T
1g.1049990C>ACA16700810AGRNc.4832C>A (p.Ala1611Asp)
c.4517C>A (p.Ala1506Asp)
c.4418C>A (p.Ala1473Asp)
c.3959C>A (p.Ala1320Asp)
c.3098C>A (p.Ala1033Asp)
n.4899C>A
n.4903C>A
 dbSNP
1g.1049990C=CA1140710141AGRNc.4832C= (p.Ala1611=)
c.4517C= (p.Ala1506=)
c.4418C= (p.Ala1473=)
c.3959C= (p.Ala1320=)
c.3098C= (p.Ala1033=)
n.4899C=
n.4903C=
1g.1049990C>GCA337779493AGRNc.4832C>G (p.Ala1611Gly)
c.4517C>G (p.Ala1506Gly)
c.4418C>G (p.Ala1473Gly)
c.3959C>G (p.Ala1320Gly)
c.3098C>G (p.Ala1033Gly)
n.4899C>G
n.4903C>G
1g.1049990C>TCA509657AGRNc.4832C>T (p.Ala1611Val)
c.4517C>T (p.Ala1506Val)
c.4418C>T (p.Ala1473Val)
c.3959C>T (p.Ala1320Val)
c.3098C>T (p.Ala1033Val)
n.4899C>T
n.4903C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1049991T>ACA415758845AGRNc.4833T>A (p.Ala1611=)
c.4518T>A (p.Ala1506=)
c.4419T>A (p.Ala1473=)
c.3960T>A (p.Ala1320=)
c.3099T>A (p.Ala1033=)
n.4900T>A
n.4904T>A
1g.1049991T>CCA415758846AGRNc.4833T>C (p.Ala1611=)
c.4518T>C (p.Ala1506=)
c.4419T>C (p.Ala1473=)
c.3960T>C (p.Ala1320=)
c.3099T>C (p.Ala1033=)
n.4900T>C
n.4904T>C
1g.1049991T>GCA415758847AGRNc.4833T>G (p.Ala1611=)
c.4518T>G (p.Ala1506=)
c.4419T>G (p.Ala1473=)
c.3960T>G (p.Ala1320=)
c.3099T>G (p.Ala1033=)
n.4900T>G
n.4904T>G
1g.1049992C>ACA337779494AGRNc.4834C>A (p.Gln1612Lys)
c.4519C>A (p.Gln1507Lys)
c.4420C>A (p.Gln1474Lys)
c.3961C>A (p.Gln1321Lys)
c.3100C>A (p.Gln1034Lys)
n.4901C>A
n.4905C>A
1g.1049992C=CA1148747804AGRNc.4834C= (p.Gln1612=)
c.4519C= (p.Gln1507=)
c.4420C= (p.Gln1474=)
c.3961C= (p.Gln1321=)
c.3100C= (p.Gln1034=)
n.4901C=
n.4905C=
1g.1049992C>GCA337779495AGRNc.4834C>G (p.Gln1612Glu)
c.4519C>G (p.Gln1507Glu)
c.4420C>G (p.Gln1474Glu)
c.3961C>G (p.Gln1321Glu)
c.3100C>G (p.Gln1034Glu)
n.4901C>G
n.4905C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1049992C>TCA337779496AGRNc.4834C>T (p.Gln1612Ter)
c.4519C>T (p.Gln1507Ter)
c.4420C>T (p.Gln1474Ter)
c.3961C>T (p.Gln1321Ter)
c.3100C>T (p.Gln1034Ter)
n.4901C>T
n.4905C>T
 gnomAD v4
1g.1049993A>CCA337779497AGRNc.4835A>C (p.Gln1612Pro)
c.4520A>C (p.Gln1507Pro)
c.4421A>C (p.Gln1474Pro)
c.3962A>C (p.Gln1321Pro)
c.3101A>C (p.Gln1034Pro)
n.4902A>C
n.4906A>C
 gnomAD v4
1g.1049993A>GCA337779499AGRNc.4835A>G (p.Gln1612Arg)
c.4520A>G (p.Gln1507Arg)
c.4421A>G (p.Gln1474Arg)
c.3962A>G (p.Gln1321Arg)
c.3101A>G (p.Gln1034Arg)
n.4902A>G
n.4906A>G
1g.1049993A>TCA337779498AGRNc.4835A>T (p.Gln1612Leu)
c.4520A>T (p.Gln1507Leu)
c.4421A>T (p.Gln1474Leu)
c.3962A>T (p.Gln1321Leu)
c.3101A>T (p.Gln1034Leu)
n.4902A>T
n.4906A>T
1g.1049994G>ACA415758852AGRNc.4836G>A (p.Gln1612=)
c.4521G>A (p.Gln1507=)
c.4422G>A (p.Gln1474=)
c.3963G>A (p.Gln1321=)
c.3102G>A (p.Gln1034=)
n.4903G>A
n.4907G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1049994G>CCA337779500AGRNc.4836G>C (p.Gln1612His)
c.4521G>C (p.Gln1507His)
c.4422G>C (p.Gln1474His)
c.3963G>C (p.Gln1321His)
c.3102G>C (p.Gln1034His)
n.4903G>C
n.4907G>C
1g.1049994G=CA1148747811AGRNc.4836G= (p.Gln1612=)
c.4521G= (p.Gln1507=)
c.4422G= (p.Gln1474=)
c.3963G= (p.Gln1321=)
c.3102G= (p.Gln1034=)
n.4903G=
n.4907G=
1g.1049994G>TCA337779501AGRNc.4836G>T (p.Gln1612His)
c.4521G>T (p.Gln1507His)
c.4422G>T (p.Gln1474His)
c.3963G>T (p.Gln1321His)
c.3102G>T (p.Gln1034His)
n.4903G>T
n.4907G>T
1g.1049995T>ACA337779502AGRNc.4837T>A (p.Cys1613Ser)
c.4522T>A (p.Cys1508Ser)
c.4423T>A (p.Cys1475Ser)
c.3964T>A (p.Cys1322Ser)
c.3103T>A (p.Cys1035Ser)
n.4904T>A
n.4908T>A
1g.1049995T>CCA337779503AGRNc.4837T>C (p.Cys1613Arg)
c.4522T>C (p.Cys1508Arg)
c.4423T>C (p.Cys1475Arg)
c.3964T>C (p.Cys1322Arg)
c.3103T>C (p.Cys1035Arg)
n.4904T>C
n.4908T>C
1g.1049995T>GCA337779504AGRNc.4837T>G (p.Cys1613Gly)
c.4522T>G (p.Cys1508Gly)
c.4423T>G (p.Cys1475Gly)
c.3964T>G (p.Cys1322Gly)
c.3103T>G (p.Cys1035Gly)
n.4904T>G
n.4908T>G
 dbSNP
1g.1049995T=CA1148747814AGRNc.4837T= (p.Cys1613=)
c.4522T= (p.Cys1508=)
c.4423T= (p.Cys1475=)
c.3964T= (p.Cys1322=)
c.3103T= (p.Cys1035=)
n.4904T=
n.4908T=
1g.1049996G>ACA337779505AGRNc.4838G>A (p.Cys1613Tyr)
c.4523G>A (p.Cys1508Tyr)
c.4424G>A (p.Cys1475Tyr)
c.3965G>A (p.Cys1322Tyr)
c.3104G>A (p.Cys1035Tyr)
n.4905G>A
n.4909G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1049996G>CCA337779506AGRNc.4838G>C (p.Cys1613Ser)
c.4523G>C (p.Cys1508Ser)
c.4424G>C (p.Cys1475Ser)
c.3965G>C (p.Cys1322Ser)
c.3104G>C (p.Cys1035Ser)
n.4905G>C
n.4909G>C
1g.1049996G=CA1148747817AGRNc.4838G= (p.Cys1613=)
c.4523G= (p.Cys1508=)
c.4424G= (p.Cys1475=)
c.3965G= (p.Cys1322=)
c.3104G= (p.Cys1035=)
n.4905G=
n.4909G=
1g.1049996G>TCA337779507AGRNc.4838G>T (p.Cys1613Phe)
c.4523G>T (p.Cys1508Phe)
c.4424G>T (p.Cys1475Phe)
c.3965G>T (p.Cys1322Phe)
c.3104G>T (p.Cys1035Phe)
n.4905G>T
n.4909G>T
1g.1049997C>ACA337779508AGRNc.4839C>A (p.Cys1613Ter)
c.4524C>A (p.Cys1508Ter)
c.4425C>A (p.Cys1475Ter)
c.3966C>A (p.Cys1322Ter)
c.3105C>A (p.Cys1035Ter)
n.4906C>A
n.4910C>A
1g.1049997C=CA1141308218AGRNc.4839C= (p.Cys1613=)
c.4524C= (p.Cys1508=)
c.4425C= (p.Cys1475=)
c.3966C= (p.Cys1322=)
c.3105C= (p.Cys1035=)
n.4906C=
n.4910C=
1g.1049997C>GCA337779509AGRNc.4839C>G (p.Cys1613Trp)
c.4524C>G (p.Cys1508Trp)
c.4425C>G (p.Cys1475Trp)
c.3966C>G (p.Cys1322Trp)
c.3105C>G (p.Cys1035Trp)
n.4906C>G
n.4910C>G
1g.1049997C>TCA509658AGRNc.4839C>T (p.Cys1613=)
c.4524C>T (p.Cys1508=)
c.4425C>T (p.Cys1475=)
c.3966C>T (p.Cys1322=)
c.3105C>T (p.Cys1035=)
n.4906C>T
n.4910C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049998G>ACA509659AGRNc.4840G>A (p.Glu1614Lys)
c.4525G>A (p.Glu1509Lys)
c.4426G>A (p.Glu1476Lys)
c.3967G>A (p.Glu1323Lys)
c.3106G>A (p.Glu1036Lys)
n.4907G>A
n.4911G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049998G>CCA337779511AGRNc.4840G>C (p.Glu1614Gln)
c.4525G>C (p.Glu1509Gln)
c.4426G>C (p.Glu1476Gln)
c.3967G>C (p.Glu1323Gln)
c.3106G>C (p.Glu1036Gln)
n.4907G>C
n.4911G>C
1g.1049998G=CA1142166198AGRNc.4840G= (p.Glu1614=)
c.4525G= (p.Glu1509=)
c.4426G= (p.Glu1476=)
c.3967G= (p.Glu1323=)
c.3106G= (p.Glu1036=)
n.4907G=
n.4911G=
1g.1049998G>TCA337779510AGRNc.4840G>T (p.Glu1614Ter)
c.4525G>T (p.Glu1509Ter)
c.4426G>T (p.Glu1476Ter)
c.3967G>T (p.Glu1323Ter)
c.3106G>T (p.Glu1036Ter)
n.4907G>T
n.4911G>T
 gnomAD v4
1g.1049999A>CCA337779512AGRNc.4841A>C (p.Glu1614Ala)
c.4526A>C (p.Glu1509Ala)
c.4427A>C (p.Glu1476Ala)
c.3968A>C (p.Glu1323Ala)
c.3107A>C (p.Glu1036Ala)
n.4908A>C
n.4912A>C
1g.1049999A>GCA337779513AGRNc.4841A>G (p.Glu1614Gly)
c.4526A>G (p.Glu1509Gly)
c.4427A>G (p.Glu1476Gly)
c.3968A>G (p.Glu1323Gly)
c.3107A>G (p.Glu1036Gly)
n.4908A>G
n.4912A>G
1g.1049999A>TCA337779514AGRNc.4841A>T (p.Glu1614Val)
c.4526A>T (p.Glu1509Val)
c.4427A>T (p.Glu1476Val)
c.3968A>T (p.Glu1323Val)
c.3107A>T (p.Glu1036Val)
n.4908A>T
n.4912A>T
1g.1050000G>ACA415758857AGRNc.4842G>A (p.Glu1614=)
c.4527G>A (p.Glu1509=)
c.4428G>A (p.Glu1476=)
c.3969G>A (p.Glu1323=)
c.3108G>A (p.Glu1036=)
n.4909G>A
n.4913G>A
1g.1050000G>CCA337779515AGRNc.4842G>C (p.Glu1614Asp)
c.4527G>C (p.Glu1509Asp)
c.4428G>C (p.Glu1476Asp)
c.3969G>C (p.Glu1323Asp)
c.3108G>C (p.Glu1036Asp)
n.4909G>C
n.4913G>C
 gnomAD v4
1g.1050000G>TCA337779516AGRNc.4842G>T (p.Glu1614Asp)
c.4527G>T (p.Glu1509Asp)
c.4428G>T (p.Glu1476Asp)
c.3969G>T (p.Glu1323Asp)
c.3108G>T (p.Glu1036Asp)
n.4909G>T
n.4913G>T
1g.1050001T>ACA337779517AGRNc.4843T>A (p.Cys1615Ser)
c.4528T>A (p.Cys1510Ser)
c.4429T>A (p.Cys1477Ser)
c.3970T>A (p.Cys1324Ser)
c.3109T>A (p.Cys1037Ser)
n.4910T>A
n.4914T>A
1g.1050001T>CCA337779518AGRNc.4843T>C (p.Cys1615Arg)
c.4528T>C (p.Cys1510Arg)
c.4429T>C (p.Cys1477Arg)
c.3970T>C (p.Cys1324Arg)
c.3109T>C (p.Cys1037Arg)
n.4910T>C
n.4914T>C
1g.1050001T>GCA16700816AGRNc.4843T>G (p.Cys1615Gly)
c.4528T>G (p.Cys1510Gly)
c.4429T>G (p.Cys1477Gly)
c.3970T>G (p.Cys1324Gly)
c.3109T>G (p.Cys1037Gly)
n.4910T>G
n.4914T>G
 dbSNP
1g.1050001T=CA1140263824AGRNc.4843T= (p.Cys1615=)
c.4528T= (p.Cys1510=)
c.4429T= (p.Cys1477=)
c.3970T= (p.Cys1324=)
c.3109T= (p.Cys1037=)
n.4910T=
n.4914T=
1g.1050002G>ACA337779519AGRNc.4844G>A (p.Cys1615Tyr)
c.4529G>A (p.Cys1510Tyr)
c.4430G>A (p.Cys1477Tyr)
c.3971G>A (p.Cys1324Tyr)
c.3110G>A (p.Cys1037Tyr)
n.4911G>A
n.4915G>A
 ClinVar dbSNP gnomAD v4
1g.1050002G>CCA337779520AGRNc.4844G>C (p.Cys1615Ser)
c.4529G>C (p.Cys1510Ser)
c.4430G>C (p.Cys1477Ser)
c.3971G>C (p.Cys1324Ser)
c.3110G>C (p.Cys1037Ser)
n.4911G>C
n.4915G>C
1g.1050002G=CA1148747861AGRNc.4844G= (p.Cys1615=)
c.4529G= (p.Cys1510=)
c.4430G= (p.Cys1477=)
c.3971G= (p.Cys1324=)
c.3110G= (p.Cys1037=)
n.4911G=
n.4915G=
1g.1050002G>TCA337779521AGRNc.4844G>T (p.Cys1615Phe)
c.4529G>T (p.Cys1510Phe)
c.4430G>T (p.Cys1477Phe)
c.3971G>T (p.Cys1324Phe)
c.3110G>T (p.Cys1037Phe)
n.4911G>T
n.4915G>T
1g.1050003C>ACA337779522AGRNc.4845C>A (p.Cys1615Ter)
c.4530C>A (p.Cys1510Ter)
c.4431C>A (p.Cys1477Ter)
c.3972C>A (p.Cys1324Ter)
c.3111C>A (p.Cys1037Ter)
n.4912C>A
n.4916C>A
1g.1050003C=CA1148747863AGRNc.4845C= (p.Cys1615=)
c.4530C= (p.Cys1510=)
c.4431C= (p.Cys1477=)
c.3972C= (p.Cys1324=)
c.3111C= (p.Cys1037=)
n.4912C=
n.4916C=
1g.1050003C>GCA337779523AGRNc.4845C>G (p.Cys1615Trp)
c.4530C>G (p.Cys1510Trp)
c.4431C>G (p.Cys1477Trp)
c.3972C>G (p.Cys1324Trp)
c.3111C>G (p.Cys1037Trp)
n.4912C>G
n.4916C>G
1g.1050003C>TCA415758864AGRNc.4845C>T (p.Cys1615=)
c.4530C>T (p.Cys1510=)
c.4431C>T (p.Cys1477=)
c.3972C>T (p.Cys1324=)
c.3111C>T (p.Cys1037=)
n.4912C>T
n.4916C>T
 dbSNP gnomAD v2 gnomAD v4
1g.1050007delCA2574221913AGRNc.4849del (p.Leu1617TrpfsTer?)
c.4534del (p.Leu1512TrpfsTer?)
c.4435del (p.Leu1479TrpfsTer?)
c.3976del (p.Leu1326TrpfsTer?)
c.3115del (p.Leu1039TrpfsTer?)
n.4916del
n.4920del
1g.1050004C>ACA337779526AGRNc.4846C>A (p.Pro1616Thr)
c.4531C>A (p.Pro1511Thr)
c.4432C>A (p.Pro1478Thr)
c.3973C>A (p.Pro1325Thr)
c.3112C>A (p.Pro1038Thr)
n.4913C>A
n.4917C>A
1g.1050004C=CA1148747876AGRNc.4846C= (p.Pro1616=)
c.4531C= (p.Pro1511=)
c.4432C= (p.Pro1478=)
c.3973C= (p.Pro1325=)
c.3112C= (p.Pro1038=)
n.4913C=
n.4917C=
1g.1050004C>GCA337779525AGRNc.4846C>G (p.Pro1616Ala)
c.4531C>G (p.Pro1511Ala)
c.4432C>G (p.Pro1478Ala)
c.3973C>G (p.Pro1325Ala)
c.3112C>G (p.Pro1038Ala)
n.4913C>G
n.4917C>G
 dbSNP gnomAD v2 gnomAD v4
1g.1050004C>TCA337779524AGRNc.4846C>T (p.Pro1616Ser)
c.4531C>T (p.Pro1511Ser)
c.4432C>T (p.Pro1478Ser)
c.3973C>T (p.Pro1325Ser)
c.3112C>T (p.Pro1038Ser)
n.4913C>T
n.4917C>T
 gnomAD v4
1g.1050005C>ACA337779528AGRNc.4847C>A (p.Pro1616His)
c.4532C>A (p.Pro1511His)
c.4433C>A (p.Pro1478His)
c.3974C>A (p.Pro1325His)
c.3113C>A (p.Pro1038His)
n.4914C>A
n.4918C>A
1g.1050005C=CA1148747886AGRNc.4847C= (p.Pro1616=)
c.4532C= (p.Pro1511=)
c.4433C= (p.Pro1478=)
c.3974C= (p.Pro1325=)
c.3113C= (p.Pro1038=)
n.4914C=
n.4918C=
1g.1050005C>GCA337779527AGRNc.4847C>G (p.Pro1616Arg)
c.4532C>G (p.Pro1511Arg)
c.4433C>G (p.Pro1478Arg)
c.3974C>G (p.Pro1325Arg)
c.3113C>G (p.Pro1038Arg)
n.4914C>G
n.4918C>G
1g.1050005C>TCA509660AGRNc.4847C>T (p.Pro1616Leu)
c.4532C>T (p.Pro1511Leu)
c.4433C>T (p.Pro1478Leu)
c.3974C>T (p.Pro1325Leu)
c.3113C>T (p.Pro1038Leu)
n.4914C>T
n.4918C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050006C>ACA415758870AGRNc.4848C>A (p.Pro1616=)
c.4533C>A (p.Pro1511=)
c.4434C>A (p.Pro1478=)
c.3975C>A (p.Pro1325=)
c.3114C>A (p.Pro1038=)
n.4915C>A
n.4919C>A
 gnomAD v4
1g.1050006C>GCA415758871AGRNc.4848C>G (p.Pro1616=)
c.4533C>G (p.Pro1511=)
c.4434C>G (p.Pro1478=)
c.3975C>G (p.Pro1325=)
c.3114C>G (p.Pro1038=)
n.4915C>G
n.4919C>G
1g.1050006C>TCA415758869AGRNc.4848C>T (p.Pro1616=)
c.4533C>T (p.Pro1511=)
c.4434C>T (p.Pro1478=)
c.3975C>T (p.Pro1325=)
c.3114C>T (p.Pro1038=)
n.4915C>T
n.4919C>T
1g.1050007C>ACA337779529AGRNc.4849C>A (p.Leu1617Met)
c.4534C>A (p.Leu1512Met)
c.4435C>A (p.Leu1479Met)
c.3976C>A (p.Leu1326Met)
c.3115C>A (p.Leu1039Met)
n.4916C>A
n.4920C>A
1g.1050007C=CA1148747918AGRNc.4849C= (p.Leu1617=)
c.4534C= (p.Leu1512=)
c.4435C= (p.Leu1479=)
c.3976C= (p.Leu1326=)
c.3115C= (p.Leu1039=)
n.4916C=
n.4920C=
1g.1050007C>GCA337779530AGRNc.4849C>G (p.Leu1617Val)
c.4534C>G (p.Leu1512Val)
c.4435C>G (p.Leu1479Val)
c.3976C>G (p.Leu1326Val)
c.3115C>G (p.Leu1039Val)
n.4916C>G
n.4920C>G
1g.1050007C>TCA415758874AGRNc.4849C>T (p.Leu1617=)
c.4534C>T (p.Leu1512=)
c.4435C>T (p.Leu1479=)
c.3976C>T (p.Leu1326=)
c.3115C>T (p.Leu1039=)
n.4916C>T
n.4920C>T
 dbSNP
1g.1050008T>ACA337779531AGRNc.4850T>A (p.Leu1617Gln)
c.4535T>A (p.Leu1512Gln)
c.4436T>A (p.Leu1479Gln)
c.3977T>A (p.Leu1326Gln)
c.3116T>A (p.Leu1039Gln)
n.4917T>A
n.4921T>A
1g.1050008T>CCA337779532AGRNc.4850T>C (p.Leu1617Pro)
c.4535T>C (p.Leu1512Pro)
c.4436T>C (p.Leu1479Pro)
c.3977T>C (p.Leu1326Pro)
c.3116T>C (p.Leu1039Pro)
n.4917T>C
n.4921T>C
1g.1050008T>GCA337779533AGRNc.4850T>G (p.Leu1617Arg)
c.4535T>G (p.Leu1512Arg)
c.4436T>G (p.Leu1479Arg)
c.3977T>G (p.Leu1326Arg)
c.3116T>G (p.Leu1039Arg)
n.4917T>G
n.4921T>G
 dbSNP
1g.1050008T=CA1148747926AGRNc.4850T= (p.Leu1617=)
c.4535T= (p.Leu1512=)
c.4436T= (p.Leu1479=)
c.3977T= (p.Leu1326=)
c.3116T= (p.Leu1039=)
n.4917T=
n.4921T=
1g.1050009G>ACA415758875AGRNc.4851G>A (p.Leu1617=)
c.4536G>A (p.Leu1512=)
c.4437G>A (p.Leu1479=)
c.3978G>A (p.Leu1326=)
c.3117G>A (p.Leu1039=)
n.4918G>A
n.4922G>A
 dbSNP
1g.1050009G>CCA509661AGRNc.4851G>C (p.Leu1617=)
c.4536G>C (p.Leu1512=)
c.4437G>C (p.Leu1479=)
c.3978G>C (p.Leu1326=)
c.3117G>C (p.Leu1039=)
n.4918G>C
n.4922G>C
 dbSNP ExAC gnomAD v2
1g.1050009G=CA1148747932AGRNc.4851G= (p.Leu1617=)
c.4536G= (p.Leu1512=)
c.4437G= (p.Leu1479=)
c.3978G= (p.Leu1326=)
c.3117G= (p.Leu1039=)
n.4918G=
n.4922G=
1g.1050009G>TCA415758876AGRNc.4851G>T (p.Leu1617=)
c.4536G>T (p.Leu1512=)
c.4437G>T (p.Leu1479=)
c.3978G>T (p.Leu1326=)
c.3117G>T (p.Leu1039=)
n.4918G>T
n.4922G>T
1g.1050010G>ACA337779534AGRNc.4852G>A (p.Gly1618Arg)
c.4537G>A (p.Gly1513Arg)
c.4438G>A (p.Gly1480Arg)
c.3979G>A (p.Gly1327Arg)
c.3118G>A (p.Gly1040Arg)
n.4919G>A
n.4923G>A
 dbSNP
1g.1050010G>CCA337779536AGRNc.4852G>C (p.Gly1618Arg)
c.4537G>C (p.Gly1513Arg)
c.4438G>C (p.Gly1480Arg)
c.3979G>C (p.Gly1327Arg)
c.3118G>C (p.Gly1040Arg)
n.4919G>C
n.4923G>C
1g.1050010G=CA1148747949AGRNc.4852G= (p.Gly1618=)
c.4537G= (p.Gly1513=)
c.4438G= (p.Gly1480=)
c.3979G= (p.Gly1327=)
c.3118G= (p.Gly1040=)
n.4919G=
n.4923G=
1g.1050010G>TCA337779535AGRNc.4852G>T (p.Gly1618Trp)
c.4537G>T (p.Gly1513Trp)
c.4438G>T (p.Gly1480Trp)
c.3979G>T (p.Gly1327Trp)
c.3118G>T (p.Gly1040Trp)
n.4919G>T
n.4923G>T
 gnomAD v4
1g.1050011G>ACA337779537AGRNc.4853G>A (p.Gly1618Glu)
c.4538G>A (p.Gly1513Glu)
c.4439G>A (p.Gly1480Glu)
c.3980G>A (p.Gly1327Glu)
c.3119G>A (p.Gly1040Glu)
n.4920G>A
n.4924G>A
 gnomAD v4 COSMIC
1g.1050011G>CCA337779538AGRNc.4853G>C (p.Gly1618Ala)
c.4538G>C (p.Gly1513Ala)
c.4439G>C (p.Gly1480Ala)
c.3980G>C (p.Gly1327Ala)
c.3119G>C (p.Gly1040Ala)
n.4920G>C
n.4924G>C
1g.1050011G>TCA337779539AGRNc.4853G>T (p.Gly1618Val)
c.4538G>T (p.Gly1513Val)
c.4439G>T (p.Gly1480Val)
c.3980G>T (p.Gly1327Val)
c.3119G>T (p.Gly1040Val)
n.4920G>T
n.4924G>T
1g.1050012G>ACA509662AGRNc.4854G>A (p.Gly1618=)
c.4539G>A (p.Gly1513=)
c.4440G>A (p.Gly1480=)
c.3981G>A (p.Gly1327=)
c.3120G>A (p.Gly1040=)
n.4921G>A
n.4925G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050012G>CCA415758877AGRNc.4854G>C (p.Gly1618=)
c.4539G>C (p.Gly1513=)
c.4440G>C (p.Gly1480=)
c.3981G>C (p.Gly1327=)
c.3120G>C (p.Gly1040=)
n.4921G>C
n.4925G>C
1g.1050012G=CA1148747966AGRNc.4854G= (p.Gly1618=)
c.4539G= (p.Gly1513=)
c.4440G= (p.Gly1480=)
c.3981G= (p.Gly1327=)
c.3120G= (p.Gly1040=)
n.4921G=
n.4925G=
1g.1050012G>TCA415758878AGRNc.4854G>T (p.Gly1618=)
c.4539G>T (p.Gly1513=)
c.4440G>T (p.Gly1480=)
c.3981G>T (p.Gly1327=)
c.3120G>T (p.Gly1040=)
n.4921G>T
n.4925G>T
1g.1050013C>ACA337779540AGRNc.4855C>A (p.Arg1619Ser)
c.4540C>A (p.Arg1514Ser)
c.4441C>A (p.Arg1481Ser)
c.3982C>A (p.Arg1328Ser)
c.3121C>A (p.Arg1041Ser)
n.4922C>A
n.4926C>A
1g.1050013C=CA1148747972AGRNc.4855C= (p.Arg1619=)
c.4540C= (p.Arg1514=)
c.4441C= (p.Arg1481=)
c.3982C= (p.Arg1328=)
c.3121C= (p.Arg1041=)
n.4922C=
n.4926C=
1g.1050013C>GCA337779541AGRNc.4855C>G (p.Arg1619Gly)
c.4540C>G (p.Arg1514Gly)
c.4441C>G (p.Arg1481Gly)
c.3982C>G (p.Arg1328Gly)
c.3121C>G (p.Arg1041Gly)
n.4922C>G
n.4926C>G
1g.1050013C>TCA509663AGRNc.4855C>T (p.Arg1619Cys)
c.4540C>T (p.Arg1514Cys)
c.4441C>T (p.Arg1481Cys)
c.3982C>T (p.Arg1328Cys)
c.3121C>T (p.Arg1041Cys)
n.4922C>T
n.4926C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050014G>ACA509665AGRNc.4856G>A (p.Arg1619His)
c.4541G>A (p.Arg1514His)
c.4442G>A (p.Arg1481His)
c.3983G>A (p.Arg1328His)
c.3122G>A (p.Arg1041His)
n.4923G>A
n.4927G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1050014G>CCA337779542AGRNc.4856G>C (p.Arg1619Pro)
c.4541G>C (p.Arg1514Pro)
c.4442G>C (p.Arg1481Pro)
c.3983G>C (p.Arg1328Pro)
c.3122G>C (p.Arg1041Pro)
n.4923G>C
n.4927G>C
 gnomAD v4
1g.1050014G=CA1148747982AGRNc.4856G= (p.Arg1619=)
c.4541G= (p.Arg1514=)
c.4442G= (p.Arg1481=)
c.3983G= (p.Arg1328=)
c.3122G= (p.Arg1041=)
n.4923G=
n.4927G=
1g.1050014G>TCA509664AGRNc.4856G>T (p.Arg1619Leu)
c.4541G>T (p.Arg1514Leu)
c.4442G>T (p.Arg1481Leu)
c.3983G>T (p.Arg1328Leu)
c.3122G>T (p.Arg1041Leu)
n.4923G>T
n.4927G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050015T>ACA415758881AGRNc.4857T>A (p.Arg1619=)
c.4542T>A (p.Arg1514=)
c.4443T>A (p.Arg1481=)
c.3984T>A (p.Arg1328=)
c.3123T>A (p.Arg1041=)
n.4924T>A
n.4928T>A
1g.1050015T>CCA415758882AGRNc.4857T>C (p.Arg1619=)
c.4542T>C (p.Arg1514=)
c.4443T>C (p.Arg1481=)
c.3984T>C (p.Arg1328=)
c.3123T>C (p.Arg1041=)
n.4924T>C
n.4928T>C
1g.1050015T>GCA415758884AGRNc.4857T>G (p.Arg1619=)
c.4542T>G (p.Arg1514=)
c.4443T>G (p.Arg1481=)
c.3984T>G (p.Arg1328=)
c.3123T>G (p.Arg1041=)
n.4924T>G
n.4928T>G
 dbSNP
1g.1050015dupCA2574221914AGRNc.4857dup (p.Glu1620Ter)
c.4542dup (p.Glu1515Ter)
c.4443dup (p.Glu1482Ter)
c.3984dup (p.Glu1329Ter)
c.3123dup (p.Glu1042Ter)
n.4924dup
n.4928dup
1g.1050016G>ACA337779543AGRNc.4858G>A (p.Glu1620Lys)
c.4543G>A (p.Glu1515Lys)
c.4444G>A (p.Glu1482Lys)
c.3985G>A (p.Glu1329Lys)
c.3124G>A (p.Glu1042Lys)
n.4925G>A
n.4929G>A
1g.1050016G>CCA337779544AGRNc.4858G>C (p.Glu1620Gln)
c.4543G>C (p.Glu1515Gln)
c.4444G>C (p.Glu1482Gln)
c.3985G>C (p.Glu1329Gln)
c.3124G>C (p.Glu1042Gln)
n.4925G>C
n.4929G>C
 dbSNP gnomAD v4
1g.1050016G=CA1148747986AGRNc.4858G= (p.Glu1620=)
c.4543G= (p.Glu1515=)
c.4444G= (p.Glu1482=)
c.3985G= (p.Glu1329=)
c.3124G= (p.Glu1042=)
n.4925G=
n.4929G=
1g.1050016G>TCA337779545AGRNc.4858G>T (p.Glu1620Ter)
c.4543G>T (p.Glu1515Ter)
c.4444G>T (p.Glu1482Ter)
c.3985G>T (p.Glu1329Ter)
c.3124G>T (p.Glu1042Ter)
n.4925G>T
n.4929G>T
 gnomAD v4
1g.1050017A>CCA337779546AGRNc.4859A>C (p.Glu1620Ala)
c.4544A>C (p.Glu1515Ala)
c.4445A>C (p.Glu1482Ala)
c.3986A>C (p.Glu1329Ala)
c.3125A>C (p.Glu1042Ala)
n.4926A>C
n.4930A>C
1g.1050017A>GCA337779547AGRNc.4859A>G (p.Glu1620Gly)
c.4544A>G (p.Glu1515Gly)
c.4445A>G (p.Glu1482Gly)
c.3986A>G (p.Glu1329Gly)
c.3125A>G (p.Glu1042Gly)
n.4926A>G
n.4930A>G
1g.1050017A>TCA337779548AGRNc.4859A>T (p.Glu1620Val)
c.4544A>T (p.Glu1515Val)
c.4445A>T (p.Glu1482Val)
c.3986A>T (p.Glu1329Val)
c.3125A>T (p.Glu1042Val)
n.4926A>T
n.4930A>T
1g.1050018G>ACA509666AGRNc.4860G>A (p.Glu1620=)
c.4545G>A (p.Glu1515=)
c.4446G>A (p.Glu1482=)
c.3987G>A (p.Glu1329=)
c.3126G>A (p.Glu1042=)
n.4927G>A
n.4931G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1050018G>CCA337779549AGRNc.4860G>C (p.Glu1620Asp)
c.4545G>C (p.Glu1515Asp)
c.4446G>C (p.Glu1482Asp)
c.3987G>C (p.Glu1329Asp)
c.3126G>C (p.Glu1042Asp)
n.4927G>C
n.4931G>C
1g.1050018G=CA1148747989AGRNc.4860G= (p.Glu1620=)
c.4545G= (p.Glu1515=)
c.4446G= (p.Glu1482=)
c.3987G= (p.Glu1329=)
c.3126G= (p.Glu1042=)
n.4927G=
n.4931G=
1g.1050018G>TCA337779550AGRNc.4860G>T (p.Glu1620Asp)
c.4545G>T (p.Glu1515Asp)
c.4446G>T (p.Glu1482Asp)
c.3987G>T (p.Glu1329Asp)
c.3126G>T (p.Glu1042Asp)
n.4927G>T
n.4931G>T
 gnomAD v4
1g.1050019G>ACA337779551AGRNc.4861G>A (p.Gly1621Ser)
c.4546G>A (p.Gly1516Ser)
c.4447G>A (p.Gly1483Ser)
c.3988G>A (p.Gly1330Ser)
c.3127G>A (p.Gly1043Ser)
n.4928G>A
n.4932G>A
 dbSNP gnomAD v3 gnomAD v4
1g.1050019G>CCA337779553AGRNc.4861G>C (p.Gly1621Arg)
c.4546G>C (p.Gly1516Arg)
c.4447G>C (p.Gly1483Arg)
c.3988G>C (p.Gly1330Arg)
c.3127G>C (p.Gly1043Arg)
n.4928G>C
n.4932G>C
1g.1050019G=CA1148747995AGRNc.4861G= (p.Gly1621=)
c.4546G= (p.Gly1516=)
c.4447G= (p.Gly1483=)
c.3988G= (p.Gly1330=)
c.3127G= (p.Gly1043=)
n.4928G=
n.4932G=
1g.1050019G>TCA337779552AGRNc.4861G>T (p.Gly1621Cys)
c.4546G>T (p.Gly1516Cys)
c.4447G>T (p.Gly1483Cys)
c.3988G>T (p.Gly1330Cys)
c.3127G>T (p.Gly1043Cys)
n.4928G>T
n.4932G>T
 gnomAD v4
1g.1050020G>ACA337779554AGRNc.4862G>A (p.Gly1621Asp)
c.4547G>A (p.Gly1516Asp)
c.4448G>A (p.Gly1483Asp)
c.3989G>A (p.Gly1330Asp)
c.3128G>A (p.Gly1043Asp)
n.4929G>A
n.4933G>A
 gnomAD v4
1g.1050020G>CCA337779555AGRNc.4862G>C (p.Gly1621Ala)
c.4547G>C (p.Gly1516Ala)
c.4448G>C (p.Gly1483Ala)
c.3989G>C (p.Gly1330Ala)
c.3128G>C (p.Gly1043Ala)
n.4929G>C
n.4933G>C
1g.1050020G>TCA337779556AGRNc.4862G>T (p.Gly1621Val)
c.4547G>T (p.Gly1516Val)
c.4448G>T (p.Gly1483Val)
c.3989G>T (p.Gly1330Val)
c.3128G>T (p.Gly1043Val)
n.4929G>T
n.4933G>T
1g.1050021C>ACA415758892AGRNc.4863C>A (p.Gly1621=)
c.4548C>A (p.Gly1516=)
c.4449C>A (p.Gly1483=)
c.3990C>A (p.Gly1330=)
c.3129C>A (p.Gly1043=)
n.4930C>A
n.4934C>A
1g.1050021C=CA1148748001AGRNc.4863C= (p.Gly1621=)
c.4548C= (p.Gly1516=)
c.4449C= (p.Gly1483=)
c.3990C= (p.Gly1330=)
c.3129C= (p.Gly1043=)
n.4930C=
n.4934C=
1g.1050021C>GCA415758895AGRNc.4863C>G (p.Gly1621=)
c.4548C>G (p.Gly1516=)
c.4449C>G (p.Gly1483=)
c.3990C>G (p.Gly1330=)
c.3129C>G (p.Gly1043=)
n.4930C>G
n.4934C>G
1g.1050021C>TCA415758893AGRNc.4863C>T (p.Gly1621=)
c.4548C>T (p.Gly1516=)
c.4449C>T (p.Gly1483=)
c.3990C>T (p.Gly1330=)
c.3129C>T (p.Gly1043=)
n.4930C>T
n.4934C>T
 dbSNP gnomAD v3 gnomAD v4
1g.1050022A>CCA337779557AGRNc.4864A>C (p.Thr1622Pro)
c.4549A>C (p.Thr1517Pro)
c.4450A>C (p.Thr1484Pro)
c.3991A>C (p.Thr1331Pro)
c.3130A>C (p.Thr1044Pro)
n.4931A>C
n.4935A>C
1g.1050022A>GCA337779558AGRNc.4864A>G (p.Thr1622Ala)
c.4549A>G (p.Thr1517Ala)
c.4450A>G (p.Thr1484Ala)
c.3991A>G (p.Thr1331Ala)
c.3130A>G (p.Thr1044Ala)
n.4931A>G
n.4935A>G
 gnomAD v4
1g.1050022A>TCA337779559AGRNc.4864A>T (p.Thr1622Ser)
c.4549A>T (p.Thr1517Ser)
c.4450A>T (p.Thr1484Ser)
c.3991A>T (p.Thr1331Ser)
c.3130A>T (p.Thr1044Ser)
n.4931A>T
n.4935A>T
1g.1050023C>ACA337779560AGRNc.4865C>A (p.Thr1622Asn)
c.4550C>A (p.Thr1517Asn)
c.4451C>A (p.Thr1484Asn)
c.3992C>A (p.Thr1331Asn)
c.3131C>A (p.Thr1044Asn)
n.4932C>A
n.4936C>A
 gnomAD v4
1g.1050023C>GCA337779561AGRNc.4865C>G (p.Thr1622Ser)
c.4550C>G (p.Thr1517Ser)
c.4451C>G (p.Thr1484Ser)
c.3992C>G (p.Thr1331Ser)
c.3131C>G (p.Thr1044Ser)
n.4932C>G
n.4936C>G
1g.1050023C>TCA337779562AGRNc.4865C>T (p.Thr1622Ile)
c.4550C>T (p.Thr1517Ile)
c.4451C>T (p.Thr1484Ile)
c.3992C>T (p.Thr1331Ile)
c.3131C>T (p.Thr1044Ile)
n.4932C>T
n.4936C>T
 gnomAD v4
1g.1050024C>ACA415758899AGRNc.4866C>A (p.Thr1622=)
c.4551C>A (p.Thr1517=)
c.4452C>A (p.Thr1484=)
c.3993C>A (p.Thr1331=)
c.3132C>A (p.Thr1044=)
n.4933C>A
n.4937C>A
 gnomAD v4
1g.1050024C=CA1148748023AGRNc.4866C= (p.Thr1622=)
c.4551C= (p.Thr1517=)
c.4452C= (p.Thr1484=)
c.3993C= (p.Thr1331=)
c.3132C= (p.Thr1044=)
n.4933C=
n.4937C=
1g.1050024C>GCA415758901AGRNc.4866C>G (p.Thr1622=)
c.4551C>G (p.Thr1517=)
c.4452C>G (p.Thr1484=)
c.3993C>G (p.Thr1331=)
c.3132C>G (p.Thr1044=)
n.4933C>G
n.4937C>G
1g.1050024C>TCA415758902AGRNc.4866C>T (p.Thr1622=)
c.4551C>T (p.Thr1517=)
c.4452C>T (p.Thr1484=)
c.3993C>T (p.Thr1331=)
c.3132C>T (p.Thr1044=)
n.4933C>T
n.4937C>T
 dbSNP
1g.1050025T>ACA337779563AGRNc.4867T>A (p.Phe1623Ile)
c.4552T>A (p.Phe1518Ile)
c.4453T>A (p.Phe1485Ile)
c.3994T>A (p.Phe1332Ile)
c.3133T>A (p.Phe1045Ile)
n.4934T>A
n.4938T>A
1g.1050025T>CCA337779564AGRNc.4867T>C (p.Phe1623Leu)
c.4552T>C (p.Phe1518Leu)
c.4453T>C (p.Phe1485Leu)
c.3994T>C (p.Phe1332Leu)
c.3133T>C (p.Phe1045Leu)
n.4934T>C
n.4938T>C
1g.1050025T>GCA337779565AGRNc.4867T>G (p.Phe1623Val)
c.4552T>G (p.Phe1518Val)
c.4453T>G (p.Phe1485Val)
c.3994T>G (p.Phe1332Val)
c.3133T>G (p.Phe1045Val)
n.4934T>G
n.4938T>G
1g.1050026T>ACA337779568AGRNc.4868T>A (p.Phe1623Tyr)
c.4553T>A (p.Phe1518Tyr)
c.4454T>A (p.Phe1485Tyr)
c.3995T>A (p.Phe1332Tyr)
c.3134T>A (p.Phe1045Tyr)
n.4935T>A
n.4939T>A
1g.1050026T>CCA337779567AGRNc.4868T>C (p.Phe1623Ser)
c.4553T>C (p.Phe1518Ser)
c.4454T>C (p.Phe1485Ser)
c.3995T>C (p.Phe1332Ser)
c.3134T>C (p.Phe1045Ser)
n.4935T>C
n.4939T>C
1g.1050026T>GCA337779566AGRNc.4868T>G (p.Phe1623Cys)
c.4553T>G (p.Phe1518Cys)
c.4454T>G (p.Phe1485Cys)
c.3995T>G (p.Phe1332Cys)
c.3134T>G (p.Phe1045Cys)
n.4935T>G
n.4939T>G
1g.1050027C>ACA509667AGRNc.4869C>A (p.Phe1623Leu)
c.4554C>A (p.Phe1518Leu)
c.4455C>A (p.Phe1485Leu)
c.3996C>A (p.Phe1332Leu)
c.3135C>A (p.Phe1045Leu)
n.4936C>A
n.4940C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050027C=CA1148721368AGRNc.4869C= (p.Phe1623=)
c.4554C= (p.Phe1518=)
c.4455C= (p.Phe1485=)
c.3996C= (p.Phe1332=)
c.3135C= (p.Phe1045=)
n.4936C=
n.4940C=
1g.1050027C>GCA337779569AGRNc.4869C>G (p.Phe1623Leu)
c.4554C>G (p.Phe1518Leu)
c.4455C>G (p.Phe1485Leu)
c.3996C>G (p.Phe1332Leu)
c.3135C>G (p.Phe1045Leu)
n.4936C>G
n.4940C>G
1g.1050027C>TCA415758904AGRNc.4869C>T (p.Phe1623=)
c.4554C>T (p.Phe1518=)
c.4455C>T (p.Phe1485=)
c.3996C>T (p.Phe1332=)
c.3135C>T (p.Phe1045=)
n.4936C>T
n.4940C>T
 gnomAD v4 COSMIC
1g.1050028T>ACA337779570AGRNc.4870T>A (p.Cys1624Ser)
c.4555T>A (p.Cys1519Ser)
c.4456T>A (p.Cys1486Ser)
c.3997T>A (p.Cys1333Ser)
c.3136T>A (p.Cys1046Ser)
n.4937T>A
n.4941T>A
1g.1050028T>CCA337779571AGRNc.4870T>C (p.Cys1624Arg)
c.4555T>C (p.Cys1519Arg)
c.4456T>C (p.Cys1486Arg)
c.3997T>C (p.Cys1333Arg)
c.3136T>C (p.Cys1046Arg)
n.4937T>C
n.4941T>C
1g.1050028T>GCA337779572AGRNc.4870T>G (p.Cys1624Gly)
c.4555T>G (p.Cys1519Gly)
c.4456T>G (p.Cys1486Gly)
c.3997T>G (p.Cys1333Gly)
c.3136T>G (p.Cys1046Gly)
n.4937T>G
n.4941T>G
1g.1050029G>ACA337779573AGRNc.4871G>A (p.Cys1624Tyr)
c.4556G>A (p.Cys1519Tyr)
c.4457G>A (p.Cys1486Tyr)
c.3998G>A (p.Cys1333Tyr)
c.3137G>A (p.Cys1046Tyr)
n.4938G>A
n.4942G>A
 dbSNP
1g.1050029G>CCA509668AGRNc.4871G>C (p.Cys1624Ser)
c.4556G>C (p.Cys1519Ser)
c.4457G>C (p.Cys1486Ser)
c.3998G>C (p.Cys1333Ser)
c.3137G>C (p.Cys1046Ser)
n.4938G>C
n.4942G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050029G=CA1148748060AGRNc.4871G= (p.Cys1624=)
c.4556G= (p.Cys1519=)
c.4457G= (p.Cys1486=)
c.3998G= (p.Cys1333=)
c.3137G= (p.Cys1046=)
n.4938G=
n.4942G=
1g.1050029G>TCA337779574AGRNc.4871G>T (p.Cys1624Phe)
c.4556G>T (p.Cys1519Phe)
c.4457G>T (p.Cys1486Phe)
c.3998G>T (p.Cys1333Phe)
c.3137G>T (p.Cys1046Phe)
n.4938G>T
n.4942G>T
 gnomAD v4
1g.1050030C>ACA337779575AGRNc.4872C>A (p.Cys1624Ter)
c.4557C>A (p.Cys1519Ter)
c.4458C>A (p.Cys1486Ter)
c.3999C>A (p.Cys1333Ter)
c.3138C>A (p.Cys1046Ter)
n.4939C>A
n.4943C>A
 gnomAD v4
1g.1050030C>GCA337779576AGRNc.4872C>G (p.Cys1624Trp)
c.4557C>G (p.Cys1519Trp)
c.4458C>G (p.Cys1486Trp)
c.3999C>G (p.Cys1333Trp)
c.3138C>G (p.Cys1046Trp)
n.4939C>G
n.4943C>G
1g.1050030C>TCA415758907AGRNc.4872C>T (p.Cys1624=)
c.4557C>T (p.Cys1519=)
c.4458C>T (p.Cys1486=)
c.3999C>T (p.Cys1333=)
c.3138C>T (p.Cys1046=)
n.4939C>T
n.4943C>T
 gnomAD v4
1g.1050031C>ACA337779577AGRNc.4873C>A (p.Gln1625Lys)
c.4558C>A (p.Gln1520Lys)
c.4459C>A (p.Gln1487Lys)
c.4000C>A (p.Gln1334Lys)
c.3139C>A (p.Gln1047Lys)
n.4940C>A
n.4944C>A
1g.1050031C>GCA337779578AGRNc.4873C>G (p.Gln1625Glu)
c.4558C>G (p.Gln1520Glu)
c.4459C>G (p.Gln1487Glu)
c.4000C>G (p.Gln1334Glu)
c.3139C>G (p.Gln1047Glu)
n.4940C>G
n.4944C>G
1g.1050031C>TCA337779579AGRNc.4873C>T (p.Gln1625Ter)
c.4558C>T (p.Gln1520Ter)
c.4459C>T (p.Gln1487Ter)
c.4000C>T (p.Gln1334Ter)
c.3139C>T (p.Gln1047Ter)
n.4940C>T
n.4944C>T
1g.1050032A>CCA337779581AGRNc.4874A>C (p.Gln1625Pro)
c.4559A>C (p.Gln1520Pro)
c.4460A>C (p.Gln1487Pro)
c.4001A>C (p.Gln1334Pro)
c.3140A>C (p.Gln1047Pro)
n.4941A>C
n.4945A>C
1g.1050032A>GCA337779582AGRNc.4874A>G (p.Gln1625Arg)
c.4559A>G (p.Gln1520Arg)
c.4460A>G (p.Gln1487Arg)
c.4001A>G (p.Gln1334Arg)
c.3140A>G (p.Gln1047Arg)
n.4941A>G
n.4945A>G
1g.1050032A>TCA337779580AGRNc.4874A>T (p.Gln1625Leu)
c.4559A>T (p.Gln1520Leu)
c.4460A>T (p.Gln1487Leu)
c.4001A>T (p.Gln1334Leu)
c.3140A>T (p.Gln1047Leu)
n.4941A>T
n.4945A>T
1g.1050033G>ACA415758915AGRNc.4875G>A (p.Gln1625=)
c.4560G>A (p.Gln1520=)
c.4461G>A (p.Gln1487=)
c.4002G>A (p.Gln1334=)
c.3141G>A (p.Gln1047=)
n.4942G>A
n.4946G>A
1g.1050033G>CCA337779583AGRNc.4875G>C (p.Gln1625His)
c.4560G>C (p.Gln1520His)
c.4461G>C (p.Gln1487His)
c.4002G>C (p.Gln1334His)
c.3141G>C (p.Gln1047His)
n.4942G>C
n.4946G>C
1g.1050033G>TCA337779584AGRNc.4875G>T (p.Gln1625His)
c.4560G>T (p.Gln1520His)
c.4461G>T (p.Gln1487His)
c.4002G>T (p.Gln1334His)
c.3141G>T (p.Gln1047His)
n.4942G>T
n.4946G>T
1g.1050034A>CCA337779585AGRNc.4876A>C (p.Thr1626Pro)
c.4561A>C (p.Thr1521Pro)
c.4462A>C (p.Thr1488Pro)
c.4003A>C (p.Thr1335Pro)
c.3142A>C (p.Thr1048Pro)
n.4943A>C
n.4947A>C
1g.1050034A>GCA337779587AGRNc.4876A>G (p.Thr1626Ala)
c.4561A>G (p.Thr1521Ala)
c.4462A>G (p.Thr1488Ala)
c.4003A>G (p.Thr1335Ala)
c.3142A>G (p.Thr1048Ala)
n.4943A>G
n.4947A>G
1g.1050034A>TCA337779586AGRNc.4876A>T (p.Thr1626Ser)
c.4561A>T (p.Thr1521Ser)
c.4462A>T (p.Thr1488Ser)
c.4003A>T (p.Thr1335Ser)
c.3142A>T (p.Thr1048Ser)
n.4943A>T
n.4947A>T
1g.1050035C>ACA337779588AGRNc.4877C>A (p.Thr1626Lys)
c.4562C>A (p.Thr1521Lys)
c.4463C>A (p.Thr1488Lys)
c.4004C>A (p.Thr1335Lys)
c.3143C>A (p.Thr1048Lys)
n.4944C>A
n.4948C>A
 gnomAD v4
1g.1050035C=CA1148748074AGRNc.4877C= (p.Thr1626=)
c.4562C= (p.Thr1521=)
c.4463C= (p.Thr1488=)
c.4004C= (p.Thr1335=)
c.3143C= (p.Thr1048=)
n.4944C=
n.4948C=
1g.1050035C>GCA337779589AGRNc.4877C>G (p.Thr1626Arg)
c.4562C>G (p.Thr1521Arg)
c.4463C>G (p.Thr1488Arg)
c.4004C>G (p.Thr1335Arg)
c.3143C>G (p.Thr1048Arg)
n.4944C>G
n.4948C>G
1g.1050035C>TCA337779590AGRNc.4877C>T (p.Thr1626Ile)
c.4562C>T (p.Thr1521Ile)
c.4463C>T (p.Thr1488Ile)
c.4004C>T (p.Thr1335Ile)
c.3143C>T (p.Thr1048Ile)
n.4944C>T
n.4948C>T
 dbSNP gnomAD v3 gnomAD v4
1g.1050036A=CA1148748088AGRNc.4878A= (p.Thr1626=)
c.4563A= (p.Thr1521=)
c.4464A= (p.Thr1488=)
c.4005A= (p.Thr1335=)
c.3144A= (p.Thr1048=)
n.4945A=
n.4949A=
1g.1050036A>CCA415758918AGRNc.4878A>C (p.Thr1626=)
c.4563A>C (p.Thr1521=)
c.4464A>C (p.Thr1488=)
c.4005A>C (p.Thr1335=)
c.3144A>C (p.Thr1048=)
n.4945A>C
n.4949A>C
1g.1050036A>GCA415758922AGRNc.4878A>G (p.Thr1626=)
c.4563A>G (p.Thr1521=)
c.4464A>G (p.Thr1488=)
c.4005A>G (p.Thr1335=)
c.3144A>G (p.Thr1048=)
n.4945A>G
n.4949A>G
 dbSNP gnomAD v4
1g.1050036A>TCA415758920AGRNc.4878A>T (p.Thr1626=)
c.4563A>T (p.Thr1521=)
c.4464A>T (p.Thr1488=)
c.4005A>T (p.Thr1335=)
c.3144A>T (p.Thr1048=)
n.4945A>T
n.4949A>T
 gnomAD v4
1g.1050036_1050071delinsAGGTCGGGGGCGTGGGGCTCTCGGGGCAGGGGGGGGCA1148748106AGRNc.4878_4879+34delinsAGGTCGGGGGCGTGGGGCTCTCGGGGCAGGGGGGGG
c.4563_4564+34delinsAGGTCGGGGGCGTGGGGCTCTCGGGGCAGGGGGGGG
c.4464_4465+34delinsAGGTCGGGGGCGTGGGGCTCTCGGGGCAGGGGGGGG
c.4005_4006+34delinsAGGTCGGGGGCGTGGGGCTCTCGGGGCAGGGGGGGG
c.3144_3145+34delinsAGGTCGGGGGCGTGGGGCTCTCGGGGCAGGGGGGGG
n.4945_4946+34delinsAGGTCGGGGGCGTGGGGCTCTCGGGGCAGGGGGGGG
n.4949_4950+34delinsAGGTCGGGGGCGTGGGGCTCTCGGGGCAGGGGGGGG
1g.1050037G>ACA337779591AGRNc.4879G>A (p.Ala1627Thr)
c.4564G>A (p.Ala1522Thr)
c.4465G>A (p.Ala1489Thr)
c.4006G>A (p.Ala1336Thr)
c.3145G>A (p.Ala1049Thr)
n.4946G>A
n.4950G>A
1g.1050037G>CCA337779592AGRNc.4879G>C (p.Ala1627Pro)
c.4564G>C (p.Ala1522Pro)
c.4465G>C (p.Ala1489Pro)
c.4006G>C (p.Ala1336Pro)
c.3145G>C (p.Ala1049Pro)
n.4946G>C
n.4950G>C
1g.1050037G>TCA337779593AGRNc.4879G>T (p.Ala1627Ser)
c.4564G>T (p.Ala1522Ser)
c.4465G>T (p.Ala1489Ser)
c.4006G>T (p.Ala1336Ser)
c.3145G>T (p.Ala1049Ser)
n.4946G>T
n.4950G>T
1g.1050039_1050073delCA1148748123AGRNc.4879+2_4879+36del
c.4564+2_4564+36del
c.4465+2_4465+36del
c.4006+2_4006+36del
c.3145+2_3145+36del
n.4946+2_4946+36del
n.4950+2_4950+36del
 dbSNP
1g.1050038G>ACA337779594AGRNc.4879+1G>A (n.4879+1G>A)
c.4564+1G>A (n.4564+1G>A)
c.4465+1G>A (n.4465+1G>A)
c.4006+1G>A (n.4006+1G>A)
c.3145+1G>A (n.3145+1G>A)
n.4946+1G>A
n.4950+1G>A
 dbSNP
1g.1050038G>CCA337779595AGRNc.4879+1G>C (n.4879+1G>C)
c.4564+1G>C (n.4564+1G>C)
c.4465+1G>C (n.4465+1G>C)
c.4006+1G>C (n.4006+1G>C)
c.3145+1G>C (n.3145+1G>C)
n.4946+1G>C
n.4950+1G>C
1g.1050038G=CA1148748124AGRNc.4879+1G= (n.4879+1G=)
c.4564+1G= (n.4564+1G=)
c.4465+1G= (n.4465+1G=)
c.4006+1G= (n.4006+1G=)
c.3145+1G= (n.3145+1G=)
n.4946+1G=
n.4950+1G=
1g.1050038G>TCA337779596AGRNc.4879+1G>T (n.4879+1G>T)
c.4564+1G>T (n.4564+1G>T)
c.4465+1G>T (n.4465+1G>T)
c.4006+1G>T (n.4006+1G>T)
c.3145+1G>T (n.3145+1G>T)
n.4946+1G>T
n.4950+1G>T
 gnomAD v4
1g.1050039T>ACA337779597AGRNc.4879+2T>A (n.4879+2T>A)
c.4564+2T>A (n.4564+2T>A)
c.4465+2T>A (n.4465+2T>A)
c.4006+2T>A (n.4006+2T>A)
c.3145+2T>A (n.3145+2T>A)
n.4946+2T>A
n.4950+2T>A
1g.1050039T>CCA337779598AGRNc.4879+2T>C (n.4879+2T>C)
c.4564+2T>C (n.4564+2T>C)
c.4465+2T>C (n.4465+2T>C)
c.4006+2T>C (n.4006+2T>C)
c.3145+2T>C (n.3145+2T>C)
n.4946+2T>C
n.4950+2T>C
1g.1050039T>GCA337779599AGRNc.4879+2T>G (n.4879+2T>G)
c.4564+2T>G (n.4564+2T>G)
c.4465+2T>G (n.4465+2T>G)
c.4006+2T>G (n.4006+2T>G)
c.3145+2T>G (n.3145+2T>G)
n.4946+2T>G
n.4950+2T>G
1g.1050040C>ACA2742134938AGRNc.4879+3C>A (n.4879+3C>A)
c.4564+3C>A (n.4564+3C>A)
c.4465+3C>A (n.4465+3C>A)
c.4006+3C>A (n.4006+3C>A)
c.3145+3C>A (n.3145+3C>A)
n.4946+3C>A
n.4950+3C>A
1g.1050040C=CA1148748127AGRNc.4879+3C= (n.4879+3C=)
c.4564+3C= (n.4564+3C=)
c.4465+3C= (n.4465+3C=)
c.4006+3C= (n.4006+3C=)
c.3145+3C= (n.3145+3C=)
n.4946+3C=
n.4950+3C=
1g.1050040C>GCA2574221915AGRNc.4879+3C>G (n.4879+3C>G)
c.4564+3C>G (n.4564+3C>G)
c.4465+3C>G (n.4465+3C>G)
c.4006+3C>G (n.4006+3C>G)
c.3145+3C>G (n.3145+3C>G)
n.4946+3C>G
n.4950+3C>G
 gnomAD v4
1g.1050040C>TCA509669AGRNc.4879+3C>T (n.4879+3C>T)
c.4564+3C>T (n.4564+3C>T)
c.4465+3C>T (n.4465+3C>T)
c.4006+3C>T (n.4006+3C>T)
c.3145+3C>T (n.3145+3C>T)
n.4946+3C>T
n.4950+3C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050040_1050041delinsCGCA1148748129AGRNc.4879+3_4879+4delinsCG (n.4879+3_4879+4delinsCG)
c.4564+3_4564+4delinsCG (n.4564+3_4564+4delinsCG)
c.4465+3_4465+4delinsCG (n.4465+3_4465+4delinsCG)
c.4006+3_4006+4delinsCG (n.4006+3_4006+4delinsCG)
c.3145+3_3145+4delinsCG (n.3145+3_3145+4delinsCG)
n.4946+3_4946+4delinsCG
n.4950+3_4950+4delinsCG
1g.1050041G>ACA509670AGRNc.4879+4G>A (n.4879+4G>A)
c.4564+4G>A (n.4564+4G>A)
c.4465+4G>A (n.4465+4G>A)
c.4006+4G>A (n.4006+4G>A)
c.3145+4G>A (n.3145+4G>A)
n.4946+4G>A
n.4950+4G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050041G>CCA2642491944AGRNc.4879+4G>C (n.4879+4G>C)
c.4564+4G>C (n.4564+4G>C)
c.4465+4G>C (n.4465+4G>C)
c.4006+4G>C (n.4006+4G>C)
c.3145+4G>C (n.3145+4G>C)
n.4946+4G>C
n.4950+4G>C
 gnomAD v4
1g.1050041G=CA1148348644AGRNc.4879+4G= (n.4879+4G=)
c.4564+4G= (n.4564+4G=)
c.4465+4G= (n.4465+4G=)
c.4006+4G= (n.4006+4G=)
c.3145+4G= (n.3145+4G=)
n.4946+4G=
n.4950+4G=
1g.1050041G>TCA2642491943AGRNc.4879+4G>T (n.4879+4G>T)
c.4564+4G>T (n.4564+4G>T)
c.4465+4G>T (n.4465+4G>T)
c.4006+4G>T (n.4006+4G>T)
c.3145+4G>T (n.3145+4G>T)
n.4946+4G>T
n.4950+4G>T
 gnomAD v4
1g.1050045delCA520620597AGRNc.4879+8del (n.4879+8del)
c.4564+8del (n.4564+8del)
c.4465+8del (n.4465+8del)
c.4006+8del (n.4006+8del)
c.3145+8del (n.3145+8del)
n.4946+8del
n.4950+8del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1050041_1050042insAGATCA2742134939AGRNc.4879+4_4879+5insAGAT (n.4879+4_4879+5insAGAT)
c.4564+4_4564+5insAGAT (n.4564+4_4564+5insAGAT)
c.4465+4_4465+5insAGAT (n.4465+4_4465+5insAGAT)
c.4006+4_4006+5insAGAT (n.4006+4_4006+5insAGAT)
c.3145+4_3145+5insAGAT (n.3145+4_3145+5insAGAT)
n.4946+4_4946+5insAGAT
n.4950+4_4950+5insAGAT
1g.1050042G>ACA520620598AGRNc.4879+5G>A (n.4879+5G>A)
c.4564+5G>A (n.4564+5G>A)
c.4465+5G>A (n.4465+5G>A)
c.4006+5G>A (n.4006+5G>A)
c.3145+5G>A (n.3145+5G>A)
n.4946+5G>A
n.4950+5G>A
 dbSNP gnomAD v2
1g.1050042G=CA1148748138AGRNc.4879+5G= (n.4879+5G=)
c.4564+5G= (n.4564+5G=)
c.4465+5G= (n.4465+5G=)
c.4006+5G= (n.4006+5G=)
c.3145+5G= (n.3145+5G=)
n.4946+5G=
n.4950+5G=
1g.1050042G>TCA2642491945AGRNc.4879+5G>T (n.4879+5G>T)
c.4564+5G>T (n.4564+5G>T)
c.4465+5G>T (n.4465+5G>T)
c.4006+5G>T (n.4006+5G>T)
c.3145+5G>T (n.3145+5G>T)
n.4946+5G>T
n.4950+5G>T
 gnomAD v4
1g.1050043G>ACA520620599AGRNc.4879+6G>A (n.4879+6G>A)
c.4564+6G>A (n.4564+6G>A)
c.4465+6G>A (n.4465+6G>A)
c.4006+6G>A (n.4006+6G>A)
c.3145+6G>A (n.3145+6G>A)
n.4946+6G>A
n.4950+6G>A
 dbSNP gnomAD v2 gnomAD v4
1g.1050043G=CA1148748139AGRNc.4879+6G= (n.4879+6G=)
c.4564+6G= (n.4564+6G=)
c.4465+6G= (n.4465+6G=)
c.4006+6G= (n.4006+6G=)
c.3145+6G= (n.3145+6G=)
n.4946+6G=
n.4950+6G=
1g.1050043G>TCA2642491947AGRNc.4879+6G>T (n.4879+6G>T)
c.4564+6G>T (n.4564+6G>T)
c.4465+6G>T (n.4465+6G>T)
c.4006+6G>T (n.4006+6G>T)
c.3145+6G>T (n.3145+6G>T)
n.4946+6G>T
n.4950+6G>T
 gnomAD v4
1g.1050044G>TCA2642491949AGRNc.4879+7G>T (n.4879+7G>T)
c.4564+7G>T (n.4564+7G>T)
c.4465+7G>T (n.4465+7G>T)
c.4006+7G>T (n.4006+7G>T)
c.3145+7G>T (n.3145+7G>T)
n.4946+7G>T
n.4950+7G>T
 gnomAD v4
1g.1050045G>ACA520620600AGRNc.4879+8G>A (n.4879+8G>A)
c.4564+8G>A (n.4564+8G>A)
c.4465+8G>A (n.4465+8G>A)
c.4006+8G>A (n.4006+8G>A)
c.3145+8G>A (n.3145+8G>A)
n.4946+8G>A
n.4950+8G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1050045G=CA1148748142AGRNc.4879+8G= (n.4879+8G=)
c.4564+8G= (n.4564+8G=)
c.4465+8G= (n.4465+8G=)
c.4006+8G= (n.4006+8G=)
c.3145+8G= (n.3145+8G=)
n.4946+8G=
n.4950+8G=
1g.1050045G>TCA2642491950AGRNc.4879+8G>T (n.4879+8G>T)
c.4564+8G>T (n.4564+8G>T)
c.4465+8G>T (n.4465+8G>T)
c.4006+8G>T (n.4006+8G>T)
c.3145+8G>T (n.3145+8G>T)
n.4946+8G>T
n.4950+8G>T
 gnomAD v4
1g.1050046C>ACA520620601AGRNc.4879+9C>A (n.4879+9C>A)
c.4564+9C>A (n.4564+9C>A)
c.4465+9C>A (n.4465+9C>A)
c.4006+9C>A (n.4006+9C>A)
c.3145+9C>A (n.3145+9C>A)
n.4946+9C>A
n.4950+9C>A
 dbSNP gnomAD v2 gnomAD v4
1g.1050046C=CA1143941797AGRNc.4879+9C= (n.4879+9C=)
c.4564+9C= (n.4564+9C=)
c.4465+9C= (n.4465+9C=)
c.4006+9C= (n.4006+9C=)
c.3145+9C= (n.3145+9C=)
n.4946+9C=
n.4950+9C=
1g.1050046C>GCA2574221916AGRNc.4879+9C>G (n.4879+9C>G)
c.4564+9C>G (n.4564+9C>G)
c.4465+9C>G (n.4465+9C>G)
c.4006+9C>G (n.4006+9C>G)
c.3145+9C>G (n.3145+9C>G)
n.4946+9C>G
n.4950+9C>G
 gnomAD v4
1g.1050046C>TCA509671AGRNc.4879+9C>T (n.4879+9C>T)
c.4564+9C>T (n.4564+9C>T)
c.4465+9C>T (n.4465+9C>T)
c.4006+9C>T (n.4006+9C>T)
c.3145+9C>T (n.3145+9C>T)
n.4946+9C>T
n.4950+9C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050047G>ACA509672AGRNc.4879+10G>A (n.4879+10G>A)
c.4564+10G>A (n.4564+10G>A)
c.4465+10G>A (n.4465+10G>A)
c.4006+10G>A (n.4006+10G>A)
c.3145+10G>A (n.3145+10G>A)
n.4946+10G>A
n.4950+10G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050047G=CA1148748152AGRNc.4879+10G= (n.4879+10G=)
c.4564+10G= (n.4564+10G=)
c.4465+10G= (n.4465+10G=)
c.4006+10G= (n.4006+10G=)
c.3145+10G= (n.3145+10G=)
n.4946+10G=
n.4950+10G=
1g.1050047G>TCA2642491956AGRNc.4879+10G>T (n.4879+10G>T)
c.4564+10G>T (n.4564+10G>T)
c.4465+10G>T (n.4465+10G>T)
c.4006+10G>T (n.4006+10G>T)
c.3145+10G>T (n.3145+10G>T)
n.4946+10G>T
n.4950+10G>T
 gnomAD v4
1g.1050048T>ACA2642491958AGRNc.4879+11T>A (n.4879+11T>A)
c.4564+11T>A (n.4564+11T>A)
c.4465+11T>A (n.4465+11T>A)
c.4006+11T>A (n.4006+11T>A)
c.3145+11T>A (n.3145+11T>A)
n.4946+11T>A
n.4950+11T>A
 gnomAD v4
1g.1050048T>CCA509673AGRNc.4879+11T>C (n.4879+11T>C)
c.4564+11T>C (n.4564+11T>C)
c.4465+11T>C (n.4465+11T>C)
c.4006+11T>C (n.4006+11T>C)
c.3145+11T>C (n.3145+11T>C)
n.4946+11T>C
n.4950+11T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1050048T>GCA520620602AGRNc.4879+11T>G (n.4879+11T>G)
c.4564+11T>G (n.4564+11T>G)
c.4465+11T>G (n.4465+11T>G)
c.4006+11T>G (n.4006+11T>G)
c.3145+11T>G (n.3145+11T>G)
n.4946+11T>G
n.4950+11T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1050048T=CA1148299612AGRNc.4879+11T= (n.4879+11T=)
c.4564+11T= (n.4564+11T=)
c.4465+11T= (n.4465+11T=)
c.4006+11T= (n.4006+11T=)
c.3145+11T= (n.3145+11T=)
n.4946+11T=
n.4950+11T=
1g.1050049G=CA1148748163AGRNc.4879+12G= (n.4879+12G=)
c.4564+12G= (n.4564+12G=)
c.4465+12G= (n.4465+12G=)
c.4006+12G= (n.4006+12G=)
c.3145+12G= (n.3145+12G=)
n.4946+12G=
n.4950+12G=
1g.1050049G>TCA509674AGRNc.4879+12G>T (n.4879+12G>T)
c.4564+12G>T (n.4564+12G>T)
c.4465+12G>T (n.4465+12G>T)
c.4006+12G>T (n.4006+12G>T)
c.3145+12G>T (n.3145+12G>T)
n.4946+12G>T
n.4950+12G>T
 dbSNP ExAC gnomAD v4
1g.1050052delCA2642491960AGRNc.4879+15del (n.4879+15del)
c.4564+15del (n.4564+15del)
c.4465+15del (n.4465+15del)
c.4006+15del (n.4006+15del)
c.3145+15del (n.3145+15del)
n.4946+15del
n.4950+15del
 gnomAD v4
1g.1050050G>ACA997657595AGRNc.4879+13G>A (n.4879+13G>A)
c.4564+13G>A (n.4564+13G>A)
c.4465+13G>A (n.4465+13G>A)
c.4006+13G>A (n.4006+13G>A)
c.3145+13G>A (n.3145+13G>A)
n.4946+13G>A
n.4950+13G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.1050050G=CA1148748192AGRNc.4879+13G= (n.4879+13G=)
c.4564+13G= (n.4564+13G=)
c.4465+13G= (n.4465+13G=)
c.4006+13G= (n.4006+13G=)
c.3145+13G= (n.3145+13G=)
n.4946+13G=
n.4950+13G=
1g.1050050G>TCA520620603AGRNc.4879+13G>T (n.4879+13G>T)
c.4564+13G>T (n.4564+13G>T)
c.4465+13G>T (n.4465+13G>T)
c.4006+13G>T (n.4006+13G>T)
c.3145+13G>T (n.3145+13G>T)
n.4946+13G>T
n.4950+13G>T
 dbSNP gnomAD v2
1g.1050051G>ACA2642491966AGRNc.4879+14G>A (n.4879+14G>A)
c.4564+14G>A (n.4564+14G>A)
c.4465+14G>A (n.4465+14G>A)
c.4006+14G>A (n.4006+14G>A)
c.3145+14G>A (n.3145+14G>A)
n.4946+14G>A
n.4950+14G>A
 gnomAD v4
1g.1050051G=CA1148748199AGRNc.4879+14G= (n.4879+14G=)
c.4564+14G= (n.4564+14G=)
c.4465+14G= (n.4465+14G=)
c.4006+14G= (n.4006+14G=)
c.3145+14G= (n.3145+14G=)
n.4946+14G=
n.4950+14G=
1g.1050051G>TCA509675AGRNc.4879+14G>T (n.4879+14G>T)
c.4564+14G>T (n.4564+14G>T)
c.4465+14G>T (n.4465+14G>T)
c.4006+14G>T (n.4006+14G>T)
c.3145+14G>T (n.3145+14G>T)
n.4946+14G>T
n.4950+14G>T
 dbSNP ExAC gnomAD v4
1g.1050052G>ACA16700837AGRNc.4879+15G>A (n.4879+15G>A)
c.4564+15G>A (n.4564+15G>A)
c.4465+15G>A (n.4465+15G>A)
c.4006+15G>A (n.4006+15G>A)
c.3145+15G>A (n.3145+15G>A)
n.4946+15G>A
n.4950+15G>A
 dbSNP gnomAD v3 gnomAD v4
1g.1050052G=CA1147481996AGRNc.4879+15G= (n.4879+15G=)
c.4564+15G= (n.4564+15G=)
c.4465+15G= (n.4465+15G=)
c.4006+15G= (n.4006+15G=)
c.3145+15G= (n.3145+15G=)
n.4946+15G=
n.4950+15G=
1g.1050052G>TCA509676AGRNc.4879+15G>T (n.4879+15G>T)
c.4564+15G>T (n.4564+15G>T)
c.4465+15G>T (n.4465+15G>T)
c.4006+15G>T (n.4006+15G>T)
c.3145+15G>T (n.3145+15G>T)
n.4946+15G>T
n.4950+15G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1050053C>ACA2642491973AGRNc.4879+16C>A (n.4879+16C>A)
c.4564+16C>A (n.4564+16C>A)
c.4465+16C>A (n.4465+16C>A)
c.4006+16C>A (n.4006+16C>A)
c.3145+16C>A (n.3145+16C>A)
n.4946+16C>A
n.4950+16C>A
 gnomAD v4
1g.1050053C=CA1148748204AGRNc.4879+16C= (n.4879+16C=)
c.4564+16C= (n.4564+16C=)
c.4465+16C= (n.4465+16C=)
c.4006+16C= (n.4006+16C=)
c.3145+16C= (n.3145+16C=)
n.4946+16C=
n.4950+16C=
1g.1050053C>TCA520620604AGRNc.4879+16C>T (n.4879+16C>T)
c.4564+16C>T (n.4564+16C>T)
c.4465+16C>T (n.4465+16C>T)
c.4006+16C>T (n.4006+16C>T)
c.3145+16C>T (n.3145+16C>T)
n.4946+16C>T
n.4950+16C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1050054T>ACA509677AGRNc.4879+17T>A (n.4879+17T>A)
c.4564+17T>A (n.4564+17T>A)
c.4465+17T>A (n.4465+17T>A)
c.4006+17T>A (n.4006+17T>A)
c.3145+17T>A (n.3145+17T>A)
n.4946+17T>A
n.4950+17T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050054T>CCA997657604AGRNc.4879+17T>C (n.4879+17T>C)
c.4564+17T>C (n.4564+17T>C)
c.4465+17T>C (n.4465+17T>C)
c.4006+17T>C (n.4006+17T>C)
c.3145+17T>C (n.3145+17T>C)
n.4946+17T>C
n.4950+17T>C
 dbSNP gnomAD v3 gnomAD v4
1g.1050054T>GCA2642491976AGRNc.4879+17T>G (n.4879+17T>G)
c.4564+17T>G (n.4564+17T>G)
c.4465+17T>G (n.4465+17T>G)
c.4006+17T>G (n.4006+17T>G)
c.3145+17T>G (n.3145+17T>G)
n.4946+17T>G
n.4950+17T>G
 gnomAD v4
1g.1050054T=CA1144846376AGRNc.4879+17T= (n.4879+17T=)
c.4564+17T= (n.4564+17T=)
c.4465+17T= (n.4465+17T=)
c.4006+17T= (n.4006+17T=)
c.3145+17T= (n.3145+17T=)
n.4946+17T=
n.4950+17T=

Number of alleles fetched