Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.1050530G>ACA337780199AGRNc.5080G>A (p.Ala1694Thr)
c.4765G>A (p.Ala1589Thr)
c.4666G>A (p.Ala1556Thr)
c.4207G>A (p.Ala1403Thr)
c.3346G>A (p.Ala1116Thr)
n.5147G>A
n.5151G>A
 dbSNP
1g.1050530G>CCA337780201AGRNc.5080G>C (p.Ala1694Pro)
c.4765G>C (p.Ala1589Pro)
c.4666G>C (p.Ala1556Pro)
c.4207G>C (p.Ala1403Pro)
c.3346G>C (p.Ala1116Pro)
n.5147G>C
n.5151G>C
1g.1050530G=CA1148751284AGRNc.5080G= (p.Ala1694=)
c.4765G= (p.Ala1589=)
c.4666G= (p.Ala1556=)
c.4207G= (p.Ala1403=)
c.3346G= (p.Ala1116=)
n.5147G=
n.5151G=
1g.1050530G>TCA337780200AGRNc.5080G>T (p.Ala1694Ser)
c.4765G>T (p.Ala1589Ser)
c.4666G>T (p.Ala1556Ser)
c.4207G>T (p.Ala1403Ser)
c.3346G>T (p.Ala1116Ser)
n.5147G>T
n.5151G>T
1g.1050531C>ACA337780202AGRNc.5081C>A (p.Ala1694Glu)
c.4766C>A (p.Ala1589Glu)
c.4667C>A (p.Ala1556Glu)
c.4208C>A (p.Ala1403Glu)
c.3347C>A (p.Ala1116Glu)
n.5148C>A
n.5152C>A
1g.1050531C=CA1148751288AGRNc.5081C= (p.Ala1694=)
c.4766C= (p.Ala1589=)
c.4667C= (p.Ala1556=)
c.4208C= (p.Ala1403=)
c.3347C= (p.Ala1116=)
n.5148C=
n.5152C=
1g.1050531C>GCA337780203AGRNc.5081C>G (p.Ala1694Gly)
c.4766C>G (p.Ala1589Gly)
c.4667C>G (p.Ala1556Gly)
c.4208C>G (p.Ala1403Gly)
c.3347C>G (p.Ala1116Gly)
n.5148C>G
n.5152C>G
1g.1050531C>TCA509840AGRNc.5081C>T (p.Ala1694Val)
c.4766C>T (p.Ala1589Val)
c.4667C>T (p.Ala1556Val)
c.4208C>T (p.Ala1403Val)
c.3347C>T (p.Ala1116Val)
n.5148C>T
n.5152C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1050532A>CCA415759042AGRNc.5082A>C (p.Ala1694=)
c.4767A>C (p.Ala1589=)
c.4668A>C (p.Ala1556=)
c.4209A>C (p.Ala1403=)
c.3348A>C (p.Ala1116=)
n.5149A>C
n.5153A>C
1g.1050532A>GCA415759043AGRNc.5082A>G (p.Ala1694=)
c.4767A>G (p.Ala1589=)
c.4668A>G (p.Ala1556=)
c.4209A>G (p.Ala1403=)
c.3348A>G (p.Ala1116=)
n.5149A>G
n.5153A>G
1g.1050532A>TCA415759044AGRNc.5082A>T (p.Ala1694=)
c.4767A>T (p.Ala1589=)
c.4668A>T (p.Ala1556=)
c.4209A>T (p.Ala1403=)
c.3348A>T (p.Ala1116=)
n.5149A>T
n.5153A>T
1g.1050533C>ACA337780204AGRNc.5083C>A (p.Leu1695Met)
c.4768C>A (p.Leu1590Met)
c.4669C>A (p.Leu1557Met)
c.4210C>A (p.Leu1404Met)
c.3349C>A (p.Leu1117Met)
n.5150C>A
n.5154C>A
1g.1050533C=CA1148751296AGRNc.5083C= (p.Leu1695=)
c.4768C= (p.Leu1590=)
c.4669C= (p.Leu1557=)
c.4210C= (p.Leu1404=)
c.3349C= (p.Leu1117=)
n.5150C=
n.5154C=
1g.1050533C>GCA337780205AGRNc.5083C>G (p.Leu1695Val)
c.4768C>G (p.Leu1590Val)
c.4669C>G (p.Leu1557Val)
c.4210C>G (p.Leu1404Val)
c.3349C>G (p.Leu1117Val)
n.5150C>G
n.5154C>G
1g.1050533C>TCA509841AGRNc.5083C>T (p.Leu1695=)
c.4768C>T (p.Leu1590=)
c.4669C>T (p.Leu1557=)
c.4210C>T (p.Leu1404=)
c.3349C>T (p.Leu1117=)
n.5150C>T
n.5154C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1050534T>ACA337780206AGRNc.5084T>A (p.Leu1695Gln)
c.4769T>A (p.Leu1590Gln)
c.4670T>A (p.Leu1557Gln)
c.4211T>A (p.Leu1404Gln)
c.3350T>A (p.Leu1117Gln)
n.5151T>A
n.5155T>A
1g.1050534T>CCA337780207AGRNc.5084T>C (p.Leu1695Pro)
c.4769T>C (p.Leu1590Pro)
c.4670T>C (p.Leu1557Pro)
c.4211T>C (p.Leu1404Pro)
c.3350T>C (p.Leu1117Pro)
n.5151T>C
n.5155T>C
 gnomAD v4
1g.1050534T>GCA337780208AGRNc.5084T>G (p.Leu1695Arg)
c.4769T>G (p.Leu1590Arg)
c.4670T>G (p.Leu1557Arg)
c.4211T>G (p.Leu1404Arg)
c.3350T>G (p.Leu1117Arg)
n.5151T>G
n.5155T>G
1g.1050535G>ACA415759046AGRNc.5085G>A (p.Leu1695=)
c.4770G>A (p.Leu1590=)
c.4671G>A (p.Leu1557=)
c.4212G>A (p.Leu1404=)
c.3351G>A (p.Leu1117=)
n.5152G>A
n.5156G>A
 dbSNP
1g.1050535G>CCA415759047AGRNc.5085G>C (p.Leu1695=)
c.4770G>C (p.Leu1590=)
c.4671G>C (p.Leu1557=)
c.4212G>C (p.Leu1404=)
c.3351G>C (p.Leu1117=)
n.5152G>C
n.5156G>C
1g.1050535G>TCA415759048AGRNc.5085G>T (p.Leu1695=)
c.4770G>T (p.Leu1590=)
c.4671G>T (p.Leu1557=)
c.4212G>T (p.Leu1404=)
c.3351G>T (p.Leu1117=)
n.5152G>T
n.5156G>T
1g.1050536C>ACA415759049AGRNc.5086C>A (p.Arg1696=)
c.4771C>A (p.Arg1591=)
c.4672C>A (p.Arg1558=)
c.4213C>A (p.Arg1405=)
c.3352C>A (p.Arg1118=)
n.5153C>A
n.5157C>A
1g.1050536C=CA1143472317AGRNc.5086C= (p.Arg1696=)
c.4771C= (p.Arg1591=)
c.4672C= (p.Arg1558=)
c.4213C= (p.Arg1405=)
c.3352C= (p.Arg1118=)
n.5153C=
n.5157C=
1g.1050536C>GCA509843AGRNc.5086C>G (p.Arg1696Gly)
c.4771C>G (p.Arg1591Gly)
c.4672C>G (p.Arg1558Gly)
c.4213C>G (p.Arg1405Gly)
c.3352C>G (p.Arg1118Gly)
n.5153C>G
n.5157C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050536C>TCA509842AGRNc.5086C>T (p.Arg1696Trp)
c.4771C>T (p.Arg1591Trp)
c.4672C>T (p.Arg1558Trp)
c.4213C>T (p.Arg1405Trp)
c.3352C>T (p.Arg1118Trp)
n.5153C>T
n.5157C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1050537G>ACA509844AGRNc.5087G>A (p.Arg1696Gln)
c.4772G>A (p.Arg1591Gln)
c.4673G>A (p.Arg1558Gln)
c.4214G>A (p.Arg1405Gln)
c.3353G>A (p.Arg1118Gln)
n.5154G>A
n.5158G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050537G>CCA337780213AGRNc.5087G>C (p.Arg1696Pro)
c.4772G>C (p.Arg1591Pro)
c.4673G>C (p.Arg1558Pro)
c.4214G>C (p.Arg1405Pro)
c.3353G>C (p.Arg1118Pro)
n.5154G>C
n.5158G>C
1g.1050537G=CA1143533775AGRNc.5087G= (p.Arg1696=)
c.4772G= (p.Arg1591=)
c.4673G= (p.Arg1558=)
c.4214G= (p.Arg1405=)
c.3353G= (p.Arg1118=)
n.5154G=
n.5158G=
1g.1050537G>TCA337780215AGRNc.5087G>T (p.Arg1696Leu)
c.4772G>T (p.Arg1591Leu)
c.4673G>T (p.Arg1558Leu)
c.4214G>T (p.Arg1405Leu)
c.3353G>T (p.Arg1118Leu)
n.5154G>T
n.5158G>T
1g.1050538G>ACA509845AGRNc.5088G>A (p.Arg1696=)
c.4773G>A (p.Arg1591=)
c.4674G>A (p.Arg1558=)
c.4215G>A (p.Arg1405=)
c.3354G>A (p.Arg1118=)
n.5155G>A
n.5159G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1050538G>CCA415759054AGRNc.5088G>C (p.Arg1696=)
c.4773G>C (p.Arg1591=)
c.4674G>C (p.Arg1558=)
c.4215G>C (p.Arg1405=)
c.3354G>C (p.Arg1118=)
n.5155G>C
n.5159G>C
1g.1050538G=CA1148567404AGRNc.5088G= (p.Arg1696=)
c.4773G= (p.Arg1591=)
c.4674G= (p.Arg1558=)
c.4215G= (p.Arg1405=)
c.3354G= (p.Arg1118=)
n.5155G=
n.5159G=
1g.1050538G>TCA415759055AGRNc.5088G>T (p.Arg1696=)
c.4773G>T (p.Arg1591=)
c.4674G>T (p.Arg1558=)
c.4215G>T (p.Arg1405=)
c.3354G>T (p.Arg1118=)
n.5155G>T
n.5159G>T
1g.1050539G>ACA337780218AGRNc.5089G>A (p.Asp1697Asn)
c.4774G>A (p.Asp1592Asn)
c.4675G>A (p.Asp1559Asn)
c.4216G>A (p.Asp1406Asn)
c.3355G>A (p.Asp1119Asn)
n.5156G>A
n.5160G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1050539G>CCA337780220AGRNc.5089G>C (p.Asp1697His)
c.4774G>C (p.Asp1592His)
c.4675G>C (p.Asp1559His)
c.4216G>C (p.Asp1406His)
c.3355G>C (p.Asp1119His)
n.5156G>C
n.5160G>C
1g.1050539G=CA1148751313AGRNc.5089G= (p.Asp1697=)
c.4774G= (p.Asp1592=)
c.4675G= (p.Asp1559=)
c.4216G= (p.Asp1406=)
c.3355G= (p.Asp1119=)
n.5156G=
n.5160G=
1g.1050539G>TCA337780222AGRNc.5089G>T (p.Asp1697Tyr)
c.4774G>T (p.Asp1592Tyr)
c.4675G>T (p.Asp1559Tyr)
c.4216G>T (p.Asp1406Tyr)
c.3355G>T (p.Asp1119Tyr)
n.5156G>T
n.5160G>T
1g.1050540A=CA1148751318AGRNc.5090A= (p.Asp1697=)
c.4775A= (p.Asp1592=)
c.4676A= (p.Asp1559=)
c.4217A= (p.Asp1406=)
c.3356A= (p.Asp1119=)
n.5157A=
n.5161A=
1g.1050540A>CCA337780226AGRNc.5090A>C (p.Asp1697Ala)
c.4775A>C (p.Asp1592Ala)
c.4676A>C (p.Asp1559Ala)
c.4217A>C (p.Asp1406Ala)
c.3356A>C (p.Asp1119Ala)
n.5157A>C
n.5161A>C
 dbSNP gnomAD v2 gnomAD v4
1g.1050540A>GCA337780224AGRNc.5090A>G (p.Asp1697Gly)
c.4775A>G (p.Asp1592Gly)
c.4676A>G (p.Asp1559Gly)
c.4217A>G (p.Asp1406Gly)
c.3356A>G (p.Asp1119Gly)
n.5157A>G
n.5161A>G
1g.1050540A>TCA337780225AGRNc.5090A>T (p.Asp1697Val)
c.4775A>T (p.Asp1592Val)
c.4676A>T (p.Asp1559Val)
c.4217A>T (p.Asp1406Val)
c.3356A>T (p.Asp1119Val)
n.5157A>T
n.5161A>T
1g.1050541C>ACA337780227AGRNc.5091C>A (p.Asp1697Glu)
c.4776C>A (p.Asp1592Glu)
c.4677C>A (p.Asp1559Glu)
c.4218C>A (p.Asp1406Glu)
c.3357C>A (p.Asp1119Glu)
n.5158C>A
n.5162C>A
1g.1050541C=CA1148751330AGRNc.5091C= (p.Asp1697=)
c.4776C= (p.Asp1592=)
c.4677C= (p.Asp1559=)
c.4218C= (p.Asp1406=)
c.3357C= (p.Asp1119=)
n.5158C=
n.5162C=
1g.1050541C>GCA337780228AGRNc.5091C>G (p.Asp1697Glu)
c.4776C>G (p.Asp1592Glu)
c.4677C>G (p.Asp1559Glu)
c.4218C>G (p.Asp1406Glu)
c.3357C>G (p.Asp1119Glu)
n.5158C>G
n.5162C>G
1g.1050541C>TCA415759068AGRNc.5091C>T (p.Asp1697=)
c.4776C>T (p.Asp1592=)
c.4677C>T (p.Asp1559=)
c.4218C>T (p.Asp1406=)
c.3357C>T (p.Asp1119=)
n.5158C>T
n.5162C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1050542C>ACA16701167AGRNc.5092C>A (p.Arg1698Ser)
c.4777C>A (p.Arg1593Ser)
c.4678C>A (p.Arg1560Ser)
c.4219C>A (p.Arg1407Ser)
c.3358C>A (p.Arg1120Ser)
n.5159C>A
n.5163C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1050542C=CA1148751343AGRNc.5092C= (p.Arg1698=)
c.4777C= (p.Arg1593=)
c.4678C= (p.Arg1560=)
c.4219C= (p.Arg1407=)
c.3358C= (p.Arg1120=)
n.5159C=
n.5163C=
1g.1050542C>GCA509846AGRNc.5092C>G (p.Arg1698Gly)
c.4777C>G (p.Arg1593Gly)
c.4678C>G (p.Arg1560Gly)
c.4219C>G (p.Arg1407Gly)
c.3358C>G (p.Arg1120Gly)
n.5159C>G
n.5163C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.1050542C>TCA509847AGRNc.5092C>T (p.Arg1698Cys)
c.4777C>T (p.Arg1593Cys)
c.4678C>T (p.Arg1560Cys)
c.4219C>T (p.Arg1407Cys)
c.3358C>T (p.Arg1120Cys)
n.5159C>T
n.5163C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.1050543G>ACA509848AGRNc.5093G>A (p.Arg1698His)
c.4778G>A (p.Arg1593His)
c.4679G>A (p.Arg1560His)
c.4220G>A (p.Arg1407His)
c.3359G>A (p.Arg1120His)
n.5160G>A
n.5164G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050543G>CCA337780232AGRNc.5093G>C (p.Arg1698Pro)
c.4778G>C (p.Arg1593Pro)
c.4679G>C (p.Arg1560Pro)
c.4220G>C (p.Arg1407Pro)
c.3359G>C (p.Arg1120Pro)
n.5160G>C
n.5164G>C
1g.1050543G=CA1146094910AGRNc.5093G= (p.Arg1698=)
c.4778G= (p.Arg1593=)
c.4679G= (p.Arg1560=)
c.4220G= (p.Arg1407=)
c.3359G= (p.Arg1120=)
n.5160G=
n.5164G=
1g.1050543G>TCA337780233AGRNc.5093G>T (p.Arg1698Leu)
c.4778G>T (p.Arg1593Leu)
c.4679G>T (p.Arg1560Leu)
c.4220G>T (p.Arg1407Leu)
c.3359G>T (p.Arg1120Leu)
n.5160G>T
n.5164G>T
1g.1050544C>ACA415759079AGRNc.5094C>A (p.Arg1698=)
c.4779C>A (p.Arg1593=)
c.4680C>A (p.Arg1560=)
c.4221C>A (p.Arg1407=)
c.3360C>A (p.Arg1120=)
n.5161C>A
n.5165C>A
1g.1050544C>GCA415759083AGRNc.5094C>G (p.Arg1698=)
c.4779C>G (p.Arg1593=)
c.4680C>G (p.Arg1560=)
c.4221C>G (p.Arg1407=)
c.3360C>G (p.Arg1120=)
n.5161C>G
n.5165C>G
1g.1050544C>TCA415759081AGRNc.5094C>T (p.Arg1698=)
c.4779C>T (p.Arg1593=)
c.4680C>T (p.Arg1560=)
c.4221C>T (p.Arg1407=)
c.3360C>T (p.Arg1120=)
n.5161C>T
n.5165C>T
1g.1050545C>ACA337780236AGRNc.5095C>A (p.Arg1699Ser)
c.4780C>A (p.Arg1594Ser)
c.4681C>A (p.Arg1561Ser)
c.4222C>A (p.Arg1408Ser)
c.3361C>A (p.Arg1121Ser)
n.5162C>A
n.5166C>A
1g.1050545C=CA1142244670AGRNc.5095C= (p.Arg1699=)
c.4780C= (p.Arg1594=)
c.4681C= (p.Arg1561=)
c.4222C= (p.Arg1408=)
c.3361C= (p.Arg1121=)
n.5162C=
n.5166C=
1g.1050545C>GCA337780237AGRNc.5095C>G (p.Arg1699Gly)
c.4780C>G (p.Arg1594Gly)
c.4681C>G (p.Arg1561Gly)
c.4222C>G (p.Arg1408Gly)
c.3361C>G (p.Arg1121Gly)
n.5162C>G
n.5166C>G
1g.1050545C>TCA509849AGRNc.5095C>T (p.Arg1699Cys)
c.4780C>T (p.Arg1594Cys)
c.4681C>T (p.Arg1561Cys)
c.4222C>T (p.Arg1408Cys)
c.3361C>T (p.Arg1121Cys)
n.5162C>T
n.5166C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050546G>ACA509850AGRNc.5096G>A (p.Arg1699His)
c.4781G>A (p.Arg1594His)
c.4682G>A (p.Arg1561His)
c.4223G>A (p.Arg1408His)
c.3362G>A (p.Arg1121His)
n.5163G>A
n.5167G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050546G>CCA337780244AGRNc.5096G>C (p.Arg1699Pro)
c.4781G>C (p.Arg1594Pro)
c.4682G>C (p.Arg1561Pro)
c.4223G>C (p.Arg1408Pro)
c.3362G>C (p.Arg1121Pro)
n.5163G>C
n.5167G>C
1g.1050546G=CA1148751363AGRNc.5096G= (p.Arg1699=)
c.4781G= (p.Arg1594=)
c.4682G= (p.Arg1561=)
c.4223G= (p.Arg1408=)
c.3362G= (p.Arg1121=)
n.5163G=
n.5167G=
1g.1050546G>TCA337780241AGRNc.5096G>T (p.Arg1699Leu)
c.4781G>T (p.Arg1594Leu)
c.4682G>T (p.Arg1561Leu)
c.4223G>T (p.Arg1408Leu)
c.3362G>T (p.Arg1121Leu)
n.5163G>T
n.5167G>T
 dbSNP gnomAD v2 gnomAD v4
1g.1050547C>ACA415759090AGRNc.5097C>A (p.Arg1699=)
c.4782C>A (p.Arg1594=)
c.4683C>A (p.Arg1561=)
c.4224C>A (p.Arg1408=)
c.3363C>A (p.Arg1121=)
n.5164C>A
n.5168C>A
1g.1050547C=CA1148751394AGRNc.5097C= (p.Arg1699=)
c.4782C= (p.Arg1594=)
c.4683C= (p.Arg1561=)
c.4224C= (p.Arg1408=)
c.3363C= (p.Arg1121=)
n.5164C=
n.5168C=
1g.1050547C>GCA415759097AGRNc.5097C>G (p.Arg1699=)
c.4782C>G (p.Arg1594=)
c.4683C>G (p.Arg1561=)
c.4224C>G (p.Arg1408=)
c.3363C>G (p.Arg1121=)
n.5164C>G
n.5168C>G
1g.1050547C>TCA415759091AGRNc.5097C>T (p.Arg1699=)
c.4782C>T (p.Arg1594=)
c.4683C>T (p.Arg1561=)
c.4224C>T (p.Arg1408=)
c.3363C>T (p.Arg1121=)
n.5164C>T
n.5168C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1050548C>ACA337780254AGRNc.5098C>A (p.Leu1700Met)
c.4783C>A (p.Leu1595Met)
c.4684C>A (p.Leu1562Met)
c.4225C>A (p.Leu1409Met)
c.3364C>A (p.Leu1122Met)
n.5165C>A
n.5169C>A
1g.1050548C=CA1148751424AGRNc.5098C= (p.Leu1700=)
c.4783C= (p.Leu1595=)
c.4684C= (p.Leu1562=)
c.4225C= (p.Leu1409=)
c.3364C= (p.Leu1122=)
n.5165C=
n.5169C=
1g.1050548C>GCA337780253AGRNc.5098C>G (p.Leu1700Val)
c.4783C>G (p.Leu1595Val)
c.4684C>G (p.Leu1562Val)
c.4225C>G (p.Leu1409Val)
c.3364C>G (p.Leu1122Val)
n.5165C>G
n.5169C>G
1g.1050548C>TCA415759100AGRNc.5098C>T (p.Leu1700=)
c.4783C>T (p.Leu1595=)
c.4684C>T (p.Leu1562=)
c.4225C>T (p.Leu1409=)
c.3364C>T (p.Leu1122=)
n.5165C>T
n.5169C>T
 dbSNP gnomAD v2 gnomAD v4
1g.1050549T>ACA337780255AGRNc.5099T>A (p.Leu1700Gln)
c.4784T>A (p.Leu1595Gln)
c.4685T>A (p.Leu1562Gln)
c.4226T>A (p.Leu1409Gln)
c.3365T>A (p.Leu1122Gln)
n.5166T>A
n.5170T>A
1g.1050549T>CCA337780256AGRNc.5099T>C (p.Leu1700Pro)
c.4784T>C (p.Leu1595Pro)
c.4685T>C (p.Leu1562Pro)
c.4226T>C (p.Leu1409Pro)
c.3365T>C (p.Leu1122Pro)
n.5166T>C
n.5170T>C
1g.1050549T>GCA337780257AGRNc.5099T>G (p.Leu1700Arg)
c.4784T>G (p.Leu1595Arg)
c.4685T>G (p.Leu1562Arg)
c.4226T>G (p.Leu1409Arg)
c.3365T>G (p.Leu1122Arg)
n.5166T>G
n.5170T>G
1g.1050549_1050550delinsTGCA1148751440AGRNc.5099_5100delinsTG (p.Leu1700=)
c.4784_4785delinsTG (p.Leu1595=)
c.4685_4686delinsTG (p.Leu1562=)
c.4226_4227delinsTG (p.Leu1409=)
c.3365_3366delinsTG (p.Leu1122=)
n.5166_5167delinsTG
n.5170_5171delinsTG
1g.1050550G>ACA415759103AGRNc.5100G>A (p.Leu1700=)
c.4785G>A (p.Leu1595=)
c.4686G>A (p.Leu1562=)
c.4227G>A (p.Leu1409=)
c.3366G>A (p.Leu1122=)
n.5167G>A
n.5171G>A
 gnomAD v4
1g.1050550G>CCA415759104AGRNc.5100G>C (p.Leu1700=)
c.4785G>C (p.Leu1595=)
c.4686G>C (p.Leu1562=)
c.4227G>C (p.Leu1409=)
c.3366G>C (p.Leu1122=)
n.5167G>C
n.5171G>C
1g.1050550G>TCA415759106AGRNc.5100G>T (p.Leu1700=)
c.4785G>T (p.Leu1595=)
c.4686G>T (p.Leu1562=)
c.4227G>T (p.Leu1409=)
c.3366G>T (p.Leu1122=)
n.5167G>T
n.5171G>T
1g.1050551delCA884900352AGRNc.5101del (p.Glu1701SerfsTer?)
c.4786del (p.Glu1596SerfsTer?)
c.4687del (p.Glu1563SerfsTer?)
c.4228del (p.Glu1410SerfsTer?)
c.3367del (p.Glu1123SerfsTer?)
n.5168del
n.5172del
 dbSNP gnomAD v4
1g.1050551G>ACA337780258AGRNc.5101G>A (p.Glu1701Lys)
c.4786G>A (p.Glu1596Lys)
c.4687G>A (p.Glu1563Lys)
c.4228G>A (p.Glu1410Lys)
c.3367G>A (p.Glu1123Lys)
n.5168G>A
n.5172G>A
1g.1050551G>CCA337780259AGRNc.5101G>C (p.Glu1701Gln)
c.4786G>C (p.Glu1596Gln)
c.4687G>C (p.Glu1563Gln)
c.4228G>C (p.Glu1410Gln)
c.3367G>C (p.Glu1123Gln)
n.5168G>C
n.5172G>C
 gnomAD v4
1g.1050551G>TCA337780260AGRNc.5101G>T (p.Glu1701Ter)
c.4786G>T (p.Glu1596Ter)
c.4687G>T (p.Glu1563Ter)
c.4228G>T (p.Glu1410Ter)
c.3367G>T (p.Glu1123Ter)
n.5168G>T
n.5172G>T
1g.1050552A>CCA337780261AGRNc.5102A>C (p.Glu1701Ala)
c.4787A>C (p.Glu1596Ala)
c.4688A>C (p.Glu1563Ala)
c.4229A>C (p.Glu1410Ala)
c.3368A>C (p.Glu1123Ala)
n.5169A>C
n.5173A>C
1g.1050552A>GCA337780263AGRNc.5102A>G (p.Glu1701Gly)
c.4787A>G (p.Glu1596Gly)
c.4688A>G (p.Glu1563Gly)
c.4229A>G (p.Glu1410Gly)
c.3368A>G (p.Glu1123Gly)
n.5169A>G
n.5173A>G
1g.1050552A>TCA337780265AGRNc.5102A>T (p.Glu1701Val)
c.4787A>T (p.Glu1596Val)
c.4688A>T (p.Glu1563Val)
c.4229A>T (p.Glu1410Val)
c.3368A>T (p.Glu1123Val)
n.5169A>T
n.5173A>T
1g.1050553G>ACA509851AGRNc.5103G>A (p.Glu1701=)
c.4788G>A (p.Glu1596=)
c.4689G>A (p.Glu1563=)
c.4230G>A (p.Glu1410=)
c.3369G>A (p.Glu1123=)
n.5170G>A
n.5174G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1050553G>CCA337780268AGRNc.5103G>C (p.Glu1701Asp)
c.4788G>C (p.Glu1596Asp)
c.4689G>C (p.Glu1563Asp)
c.4230G>C (p.Glu1410Asp)
c.3369G>C (p.Glu1123Asp)
n.5170G>C
n.5174G>C
1g.1050553G=CA1148751444AGRNc.5103G= (p.Glu1701=)
c.4788G= (p.Glu1596=)
c.4689G= (p.Glu1563=)
c.4230G= (p.Glu1410=)
c.3369G= (p.Glu1123=)
n.5170G=
n.5174G=
1g.1050553G>TCA337780269AGRNc.5103G>T (p.Glu1701Asp)
c.4788G>T (p.Glu1596Asp)
c.4689G>T (p.Glu1563Asp)
c.4230G>T (p.Glu1410Asp)
c.3369G>T (p.Glu1123Asp)
n.5170G>T
n.5174G>T
1g.1050554T>ACA337780275AGRNc.5104T>A (p.Phe1702Ile)
c.4789T>A (p.Phe1597Ile)
c.4690T>A (p.Phe1564Ile)
c.4231T>A (p.Phe1411Ile)
c.3370T>A (p.Phe1124Ile)
n.5171T>A
n.5175T>A
1g.1050554T>CCA337780271AGRNc.5104T>C (p.Phe1702Leu)
c.4789T>C (p.Phe1597Leu)
c.4690T>C (p.Phe1564Leu)
c.4231T>C (p.Phe1411Leu)
c.3370T>C (p.Phe1124Leu)
n.5171T>C
n.5175T>C
1g.1050554T>GCA337780273AGRNc.5104T>G (p.Phe1702Val)
c.4789T>G (p.Phe1597Val)
c.4690T>G (p.Phe1564Val)
c.4231T>G (p.Phe1411Val)
c.3370T>G (p.Phe1124Val)
n.5171T>G
n.5175T>G
1g.1050555T>ACA337780277AGRNc.5105T>A (p.Phe1702Tyr)
c.4790T>A (p.Phe1597Tyr)
c.4691T>A (p.Phe1564Tyr)
c.4232T>A (p.Phe1411Tyr)
c.3371T>A (p.Phe1124Tyr)
n.5172T>A
n.5176T>A
1g.1050555T>CCA337780279AGRNc.5105T>C (p.Phe1702Ser)
c.4790T>C (p.Phe1597Ser)
c.4691T>C (p.Phe1564Ser)
c.4232T>C (p.Phe1411Ser)
c.3371T>C (p.Phe1124Ser)
n.5172T>C
n.5176T>C
1g.1050555T>GCA337780292AGRNc.5105T>G (p.Phe1702Cys)
c.4790T>G (p.Phe1597Cys)
c.4691T>G (p.Phe1564Cys)
c.4232T>G (p.Phe1411Cys)
c.3371T>G (p.Phe1124Cys)
n.5172T>G
n.5176T>G
1g.1050555T=CA1148751453AGRNc.5105T= (p.Phe1702=)
c.4790T= (p.Phe1597=)
c.4691T= (p.Phe1564=)
c.4232T= (p.Phe1411=)
c.3371T= (p.Phe1124=)
n.5172T=
n.5176T=
1g.1050556C>ACA337780295AGRNc.5106C>A (p.Phe1702Leu)
c.4791C>A (p.Phe1597Leu)
c.1C>A
c.4692C>A (p.Phe1564Leu)
c.4233C>A (p.Phe1411Leu)
c.3372C>A (p.Phe1124Leu)
n.5173C>A
n.5177C>A
1g.1050556C=CA1146990008AGRNc.5106C= (p.Phe1702=)
c.4791C= (p.Phe1597=)
c.1C=
c.4692C= (p.Phe1564=)
c.4233C= (p.Phe1411=)
c.3372C= (p.Phe1124=)
n.5173C=
n.5177C=
1g.1050556C>GCA337780296AGRNc.5106C>G (p.Phe1702Leu)
c.4791C>G (p.Phe1597Leu)
c.1C>G
c.4692C>G (p.Phe1564Leu)
c.4233C>G (p.Phe1411Leu)
c.3372C>G (p.Phe1124Leu)
n.5173C>G
n.5177C>G
1g.1050556C>TCA509852AGRNc.5106C>T (p.Phe1702=)
c.4791C>T (p.Phe1597=)
c.1C>T
c.4692C>T (p.Phe1564=)
c.4233C>T (p.Phe1411=)
c.3372C>T (p.Phe1124=)
n.5173C>T
n.5177C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050557dupCA520625227AGRNc.5107dup (p.Arg1703ProfsTer?)
c.4792dup (p.Arg1598ProfsTer?)
c.2dup
c.4693dup (p.Arg1565ProfsTer?)
c.4234dup (p.Arg1412ProfsTer?)
c.3373dup (p.Arg1125ProfsTer?)
n.5174dup
n.5178dup
 dbSNP gnomAD v2 gnomAD v4
1g.1050557C>ACA337780300AGRNc.5107C>A (p.Arg1703Ser)
c.4792C>A (p.Arg1598Ser)
c.2C>A
c.4693C>A (p.Arg1565Ser)
c.4234C>A (p.Arg1412Ser)
c.3373C>A (p.Arg1125Ser)
n.5174C>A
n.5178C>A
 dbSNP gnomAD v2
1g.1050557C=CA1142405543AGRNc.5107C= (p.Arg1703=)
c.4792C= (p.Arg1598=)
c.2C=
c.4693C= (p.Arg1565=)
c.4234C= (p.Arg1412=)
c.3373C= (p.Arg1125=)
n.5174C=
n.5178C=
1g.1050557C>GCA509854AGRNc.5107C>G (p.Arg1703Gly)
c.4792C>G (p.Arg1598Gly)
c.2C>G
c.4693C>G (p.Arg1565Gly)
c.4234C>G (p.Arg1412Gly)
c.3373C>G (p.Arg1125Gly)
n.5174C>G
n.5178C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.1050557C>TCA509853AGRNc.5107C>T (p.Arg1703Cys)
c.4792C>T (p.Arg1598Cys)
c.2C>T
c.4693C>T (p.Arg1565Cys)
c.4234C>T (p.Arg1412Cys)
c.3373C>T (p.Arg1125Cys)
n.5174C>T
n.5178C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050558G>ACA509855AGRNc.5108G>A (p.Arg1703His)
c.4793G>A (p.Arg1598His)
c.3G>A
c.4694G>A (p.Arg1565His)
c.4235G>A (p.Arg1412His)
c.3374G>A (p.Arg1125His)
n.5175G>A
n.5179G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1050558G>CCA337780303AGRNc.5108G>C (p.Arg1703Pro)
c.4793G>C (p.Arg1598Pro)
c.3G>C
c.4694G>C (p.Arg1565Pro)
c.4235G>C (p.Arg1412Pro)
c.3374G>C (p.Arg1125Pro)
n.5175G>C
n.5179G>C
1g.1050558G=CA1143829110AGRNc.5108G= (p.Arg1703=)
c.4793G= (p.Arg1598=)
c.3G=
c.4694G= (p.Arg1565=)
c.4235G= (p.Arg1412=)
c.3374G= (p.Arg1125=)
n.5175G=
n.5179G=
1g.1050558G>TCA509856AGRNc.5108G>T (p.Arg1703Leu)
c.4793G>T (p.Arg1598Leu)
c.3G>T
c.4694G>T (p.Arg1565Leu)
c.4235G>T (p.Arg1412Leu)
c.3374G>T (p.Arg1125Leu)
n.5175G>T
n.5179G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050559C>ACA415759136AGRNc.5109C>A (p.Arg1703=)
c.4794C>A (p.Arg1598=)
c.4C>A
c.4695C>A (p.Arg1565=)
c.4236C>A (p.Arg1412=)
c.3375C>A (p.Arg1125=)
n.5176C>A
n.5180C>A
1g.1050559C=CA1148751472AGRNc.5109C= (p.Arg1703=)
c.4794C= (p.Arg1598=)
c.4C=
c.4695C= (p.Arg1565=)
c.4236C= (p.Arg1412=)
c.3375C= (p.Arg1125=)
n.5176C=
n.5180C=
1g.1050559C>GCA415759138AGRNc.5109C>G (p.Arg1703=)
c.4794C>G (p.Arg1598=)
c.4C>G
c.4695C>G (p.Arg1565=)
c.4236C>G (p.Arg1412=)
c.3375C>G (p.Arg1125=)
n.5176C>G
n.5180C>G
1g.1050559C>TCA415759142AGRNc.5109C>T (p.Arg1703=)
c.4794C>T (p.Arg1598=)
c.4C>T
c.4695C>T (p.Arg1565=)
c.4236C>T (p.Arg1412=)
c.3375C>T (p.Arg1125=)
n.5176C>T
n.5180C>T
 dbSNP
1g.1050560T>ACA337780309AGRNc.5110T>A (p.Tyr1704Asn)
c.4795T>A (p.Tyr1599Asn)
c.5T>A
c.4696T>A (p.Tyr1566Asn)
c.4237T>A (p.Tyr1413Asn)
c.3376T>A (p.Tyr1126Asn)
n.5177T>A
n.5181T>A
1g.1050560T>CCA337780311AGRNc.5110T>C (p.Tyr1704His)
c.4795T>C (p.Tyr1599His)
c.5T>C
c.4696T>C (p.Tyr1566His)
c.4237T>C (p.Tyr1413His)
c.3376T>C (p.Tyr1126His)
n.5177T>C
n.5181T>C
1g.1050560T>GCA337780307AGRNc.5110T>G (p.Tyr1704Asp)
c.4795T>G (p.Tyr1599Asp)
c.5T>G
c.4696T>G (p.Tyr1566Asp)
c.4237T>G (p.Tyr1413Asp)
c.3376T>G (p.Tyr1126Asp)
n.5177T>G
n.5181T>G
1g.1050561A>CCA337780313AGRNc.5111A>C (p.Tyr1704Ser)
c.4796A>C (p.Tyr1599Ser)
c.6A>C
c.4697A>C (p.Tyr1566Ser)
c.4238A>C (p.Tyr1413Ser)
c.3377A>C (p.Tyr1126Ser)
n.5178A>C
n.5182A>C
1g.1050561A>GCA337780317AGRNc.5111A>G (p.Tyr1704Cys)
c.4796A>G (p.Tyr1599Cys)
c.6A>G
c.4697A>G (p.Tyr1566Cys)
c.4238A>G (p.Tyr1413Cys)
c.3377A>G (p.Tyr1126Cys)
n.5178A>G
n.5182A>G
 COSMIC
1g.1050561A>TCA337780315AGRNc.5111A>T (p.Tyr1704Phe)
c.4796A>T (p.Tyr1599Phe)
c.6A>T
c.4697A>T (p.Tyr1566Phe)
c.4238A>T (p.Tyr1413Phe)
c.3377A>T (p.Tyr1126Phe)
n.5178A>T
n.5182A>T
1g.1050562C>ACA337780319AGRNc.5112C>A (p.Tyr1704Ter)
c.4797C>A (p.Tyr1599Ter)
c.7C>A
c.4698C>A (p.Tyr1566Ter)
c.4239C>A (p.Tyr1413Ter)
c.3378C>A (p.Tyr1126Ter)
n.5179C>A
n.5183C>A
1g.1050562C=CA1148751478AGRNc.5112C= (p.Tyr1704=)
c.4797C= (p.Tyr1599=)
c.7C=
c.4698C= (p.Tyr1566=)
c.4239C= (p.Tyr1413=)
c.3378C= (p.Tyr1126=)
n.5179C=
n.5183C=
1g.1050562C>GCA337780320AGRNc.5112C>G (p.Tyr1704Ter)
c.4797C>G (p.Tyr1599Ter)
c.7C>G
c.4698C>G (p.Tyr1566Ter)
c.4239C>G (p.Tyr1413Ter)
c.3378C>G (p.Tyr1126Ter)
n.5179C>G
n.5183C>G
1g.1050562C>TCA509857AGRNc.5112C>T (p.Tyr1704=)
c.4797C>T (p.Tyr1599=)
c.7C>T
c.4698C>T (p.Tyr1566=)
c.4239C>T (p.Tyr1413=)
c.3378C>T (p.Tyr1126=)
n.5179C>T
n.5183C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.1050563G>ACA509858AGRNc.5113G>A (p.Asp1705Asn)
c.4798G>A (p.Asp1600Asn)
c.8G>A
c.4699G>A (p.Asp1567Asn)
c.4240G>A (p.Asp1414Asn)
c.3379G>A (p.Asp1127Asn)
n.5180G>A
n.5184G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050563G>CCA337780321AGRNc.5113G>C (p.Asp1705His)
c.4798G>C (p.Asp1600His)
c.8G>C
c.4699G>C (p.Asp1567His)
c.4240G>C (p.Asp1414His)
c.3379G>C (p.Asp1127His)
n.5180G>C
n.5184G>C
 gnomAD v4
1g.1050563G=CA1146981027AGRNc.5113G= (p.Asp1705=)
c.4798G= (p.Asp1600=)
c.8G=
c.4699G= (p.Asp1567=)
c.4240G= (p.Asp1414=)
c.3379G= (p.Asp1127=)
n.5180G=
n.5184G=
1g.1050563G>TCA337780322AGRNc.5113G>T (p.Asp1705Tyr)
c.4798G>T (p.Asp1600Tyr)
c.8G>T
c.4699G>T (p.Asp1567Tyr)
c.4240G>T (p.Asp1414Tyr)
c.3379G>T (p.Asp1127Tyr)
n.5180G>T
n.5184G>T
 COSMIC
1g.1050564A>CCA337780324AGRNc.5114A>C (p.Asp1705Ala)
c.4799A>C (p.Asp1600Ala)
c.9A>C
c.4700A>C (p.Asp1567Ala)
c.4241A>C (p.Asp1414Ala)
c.3380A>C (p.Asp1127Ala)
n.5181A>C
n.5185A>C
1g.1050564A>GCA337780326AGRNc.5114A>G (p.Asp1705Gly)
c.4799A>G (p.Asp1600Gly)
c.9A>G
c.4700A>G (p.Asp1567Gly)
c.4241A>G (p.Asp1414Gly)
c.3380A>G (p.Asp1127Gly)
n.5181A>G
n.5185A>G
 gnomAD v4
1g.1050564A>TCA337780344AGRNc.5114A>T (p.Asp1705Val)
c.4799A>T (p.Asp1600Val)
c.9A>T
c.4700A>T (p.Asp1567Val)
c.4241A>T (p.Asp1414Val)
c.3380A>T (p.Asp1127Val)
n.5181A>T
n.5185A>T
1g.1050565C>ACA337780345AGRNc.5115C>A (p.Asp1705Glu)
c.4800C>A (p.Asp1600Glu)
c.10C>A
c.4701C>A (p.Asp1567Glu)
c.4242C>A (p.Asp1414Glu)
c.3381C>A (p.Asp1127Glu)
n.5182C>A
n.5186C>A
1g.1050565C>GCA337780346AGRNc.5115C>G (p.Asp1705Glu)
c.4800C>G (p.Asp1600Glu)
c.10C>G
c.4701C>G (p.Asp1567Glu)
c.4242C>G (p.Asp1414Glu)
c.3381C>G (p.Asp1127Glu)
n.5182C>G
n.5186C>G
1g.1050565C>TCA415759164AGRNc.5115C>T (p.Asp1705=)
c.4800C>T (p.Asp1600=)
c.10C>T
c.4701C>T (p.Asp1567=)
c.4242C>T (p.Asp1414=)
c.3381C>T (p.Asp1127=)
n.5182C>T
n.5186C>T
1g.1050566C>ACA337780347AGRNc.5116C>A (p.Leu1706Met)
c.4801C>A (p.Leu1601Met)
c.11C>A
c.4702C>A (p.Leu1568Met)
c.4243C>A (p.Leu1415Met)
c.3382C>A (p.Leu1128Met)
n.5183C>A
n.5187C>A
1g.1050566C>GCA337780348AGRNc.5116C>G (p.Leu1706Val)
c.4801C>G (p.Leu1601Val)
c.11C>G
c.4702C>G (p.Leu1568Val)
c.4243C>G (p.Leu1415Val)
c.3382C>G (p.Leu1128Val)
n.5183C>G
n.5187C>G
1g.1050566C>TCA415759165AGRNc.5116C>T (p.Leu1706=)
c.4801C>T (p.Leu1601=)
c.11C>T
c.4702C>T (p.Leu1568=)
c.4243C>T (p.Leu1415=)
c.3382C>T (p.Leu1128=)
n.5183C>T
n.5187C>T
1g.1050567T>ACA337780349AGRNc.5117T>A (p.Leu1706Gln)
c.4802T>A (p.Leu1601Gln)
c.12T>A
c.4703T>A (p.Leu1568Gln)
c.4244T>A (p.Leu1415Gln)
c.3383T>A (p.Leu1128Gln)
n.5184T>A
n.5188T>A
1g.1050567T>CCA337780351AGRNc.5117T>C (p.Leu1706Pro)
c.4802T>C (p.Leu1601Pro)
c.12T>C
c.4703T>C (p.Leu1568Pro)
c.4244T>C (p.Leu1415Pro)
c.3383T>C (p.Leu1128Pro)
n.5184T>C
n.5188T>C
 gnomAD v4
1g.1050567T>GCA337780350AGRNc.5117T>G (p.Leu1706Arg)
c.4802T>G (p.Leu1601Arg)
c.12T>G
c.4703T>G (p.Leu1568Arg)
c.4244T>G (p.Leu1415Arg)
c.3383T>G (p.Leu1128Arg)
n.5184T>G
n.5188T>G
1g.1050568G>ACA415759168AGRNc.5118G>A (p.Leu1706=)
c.4803G>A (p.Leu1601=)
c.13G>A
c.4704G>A (p.Leu1568=)
c.4245G>A (p.Leu1415=)
c.3384G>A (p.Leu1128=)
n.5185G>A
n.5189G>A
 gnomAD v4
1g.1050568G>CCA415759170AGRNc.5118G>C (p.Leu1706=)
c.4803G>C (p.Leu1601=)
c.13G>C
c.4704G>C (p.Leu1568=)
c.4245G>C (p.Leu1415=)
c.3384G>C (p.Leu1128=)
n.5185G>C
n.5189G>C
1g.1050568G>TCA415759171AGRNc.5118G>T (p.Leu1706=)
c.4803G>T (p.Leu1601=)
c.13G>T
c.4704G>T (p.Leu1568=)
c.4245G>T (p.Leu1415=)
c.3384G>T (p.Leu1128=)
n.5185G>T
n.5189G>T
1g.1050569G>ACA337780352AGRNc.5119G>A (p.Gly1707Ser)
c.4804G>A (p.Gly1602Ser)
c.14G>A
c.4705G>A (p.Gly1569Ser)
c.4246G>A (p.Gly1416Ser)
c.3385G>A (p.Gly1129Ser)
n.5186G>A
n.5190G>A
 ClinVar gnomAD v4
1g.1050569G>CCA337780353AGRNc.5119G>C (p.Gly1707Arg)
c.4804G>C (p.Gly1602Arg)
c.14G>C
c.4705G>C (p.Gly1569Arg)
c.4246G>C (p.Gly1416Arg)
c.3385G>C (p.Gly1129Arg)
n.5186G>C
n.5190G>C
1g.1050569G>TCA337780354AGRNc.5119G>T (p.Gly1707Cys)
c.4804G>T (p.Gly1602Cys)
c.14G>T
c.4705G>T (p.Gly1569Cys)
c.4246G>T (p.Gly1416Cys)
c.3385G>T (p.Gly1129Cys)
n.5186G>T
n.5190G>T
1g.1050570G>ACA337780355AGRNc.5120G>A (p.Gly1707Asp)
c.4805G>A (p.Gly1602Asp)
c.15G>A
c.4706G>A (p.Gly1569Asp)
c.4247G>A (p.Gly1416Asp)
c.3386G>A (p.Gly1129Asp)
n.5187G>A
n.5191G>A
 ClinVar
1g.1050570G>CCA337780356AGRNc.5120G>C (p.Gly1707Ala)
c.4805G>C (p.Gly1602Ala)
c.15G>C
c.4706G>C (p.Gly1569Ala)
c.4247G>C (p.Gly1416Ala)
c.3386G>C (p.Gly1129Ala)
n.5187G>C
n.5191G>C
1g.1050570G>TCA337780358AGRNc.5120G>T (p.Gly1707Val)
c.4805G>T (p.Gly1602Val)
c.15G>T
c.4706G>T (p.Gly1569Val)
c.4247G>T (p.Gly1416Val)
c.3386G>T (p.Gly1129Val)
n.5187G>T
n.5191G>T
1g.1050571C>ACA415759180AGRNc.5121C>A (p.Gly1707=)
c.4806C>A (p.Gly1602=)
c.16C>A
c.4707C>A (p.Gly1569=)
c.4248C>A (p.Gly1416=)
c.3387C>A (p.Gly1129=)
n.5188C>A
n.5192C>A
 dbSNP gnomAD v3 gnomAD v4
1g.1050571C=CA1148751495AGRNc.5121C= (p.Gly1707=)
c.4806C= (p.Gly1602=)
c.16C=
c.4707C= (p.Gly1569=)
c.4248C= (p.Gly1416=)
c.3387C= (p.Gly1129=)
n.5188C=
n.5192C=
1g.1050571C>GCA415759179AGRNc.5121C>G (p.Gly1707=)
c.4806C>G (p.Gly1602=)
c.16C>G
c.4707C>G (p.Gly1569=)
c.4248C>G (p.Gly1416=)
c.3387C>G (p.Gly1129=)
n.5188C>G
n.5192C>G
1g.1050571C>TCA415759178AGRNc.5121C>T (p.Gly1707=)
c.4806C>T (p.Gly1602=)
c.16C>T
c.4707C>T (p.Gly1569=)
c.4248C>T (p.Gly1416=)
c.3387C>T (p.Gly1129=)
n.5188C>T
n.5192C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.1050572A>CCA337780360AGRNc.5122A>C (p.Lys1708Gln)
c.4807A>C (p.Lys1603Gln)
c.17A>C
c.4708A>C (p.Lys1570Gln)
c.4249A>C (p.Lys1417Gln)
c.3388A>C (p.Lys1130Gln)
n.5189A>C
n.5193A>C
1g.1050572A>GCA337780362AGRNc.5122A>G (p.Lys1708Glu)
c.4807A>G (p.Lys1603Glu)
c.17A>G
c.4708A>G (p.Lys1570Glu)
c.4249A>G (p.Lys1417Glu)
c.3388A>G (p.Lys1130Glu)
n.5189A>G
n.5193A>G
1g.1050572A>TCA337780363AGRNc.5122A>T (p.Lys1708Ter)
c.4807A>T (p.Lys1603Ter)
c.17A>T
c.4708A>T (p.Lys1570Ter)
c.4249A>T (p.Lys1417Ter)
c.3388A>T (p.Lys1130Ter)
n.5189A>T
n.5193A>T
1g.1050573A=CA1148751504AGRNc.5123A= (p.Lys1708=)
c.4808A= (p.Lys1603=)
c.18A=
c.4709A= (p.Lys1570=)
c.4250A= (p.Lys1417=)
c.3389A= (p.Lys1130=)
n.5190A=
n.5194A=
1g.1050573A>CCA337780373AGRNc.5123A>C (p.Lys1708Thr)
c.4808A>C (p.Lys1603Thr)
c.18A>C
c.4709A>C (p.Lys1570Thr)
c.4250A>C (p.Lys1417Thr)
c.3389A>C (p.Lys1130Thr)
n.5190A>C
n.5194A>C
1g.1050573A>GCA337780368AGRNc.5123A>G (p.Lys1708Arg)
c.4808A>G (p.Lys1603Arg)
c.18A>G
c.4709A>G (p.Lys1570Arg)
c.4250A>G (p.Lys1417Arg)
c.3389A>G (p.Lys1130Arg)
n.5190A>G
n.5194A>G
 dbSNP gnomAD v4
1g.1050573A>TCA337780366AGRNc.5123A>T (p.Lys1708Met)
c.4808A>T (p.Lys1603Met)
c.18A>T
c.4709A>T (p.Lys1570Met)
c.4250A>T (p.Lys1417Met)
c.3389A>T (p.Lys1130Met)
n.5190A>T
n.5194A>T
1g.1050574G>ACA415759185AGRNc.5124G>A (p.Lys1708=)
c.4809G>A (p.Lys1603=)
c.19G>A
c.4710G>A (p.Lys1570=)
c.4251G>A (p.Lys1417=)
c.3390G>A (p.Lys1130=)
n.5191G>A
n.5195G>A
1g.1050574G>CCA337780374AGRNc.5124G>C (p.Lys1708Asn)
c.4809G>C (p.Lys1603Asn)
c.19G>C
c.4710G>C (p.Lys1570Asn)
c.4251G>C (p.Lys1417Asn)
c.3390G>C (p.Lys1130Asn)
n.5191G>C
n.5195G>C
1g.1050574G>TCA337780376AGRNc.5124G>T (p.Lys1708Asn)
c.4809G>T (p.Lys1603Asn)
c.19G>T
c.4710G>T (p.Lys1570Asn)
c.4251G>T (p.Lys1417Asn)
c.3390G>T (p.Lys1130Asn)
n.5191G>T
n.5195G>T
 ClinVar
1g.1050578delCA2550412601AGRNc.5128del (p.Ala1710GlnfsTer?)
c.4813del (p.Ala1605GlnfsTer?)
c.23del
c.4714del (p.Ala1572GlnfsTer?)
c.4255del (p.Ala1419GlnfsTer?)
c.3394del (p.Ala1132GlnfsTer?)
n.5195del
n.5199del
 gnomAD v4
1g.1050575G>ACA337780378AGRNc.5125G>A (p.Gly1709Arg)
c.4810G>A (p.Gly1604Arg)
c.20G>A
c.4711G>A (p.Gly1571Arg)
c.4252G>A (p.Gly1418Arg)
c.3391G>A (p.Gly1131Arg)
n.5192G>A
n.5196G>A
 dbSNP gnomAD v4
1g.1050575G>CCA127981AGRNc.5125G>C (p.Gly1709Arg)
c.4810G>C (p.Gly1604Arg)
c.20G>C
c.4711G>C (p.Gly1571Arg)
c.4252G>C (p.Gly1418Arg)
c.3391G>C (p.Gly1131Arg)
n.5192G>C
n.5196G>C
 ClinVar dbSNP
1g.1050575G=CA1143355003AGRNc.5125G= (p.Gly1709=)
c.4810G= (p.Gly1604=)
c.20G=
c.4711G= (p.Gly1571=)
c.4252G= (p.Gly1418=)
c.3391G= (p.Gly1131=)
n.5192G=
n.5196G=
1g.1050575G>TCA337780383AGRNc.5125G>T (p.Gly1709Trp)
c.4810G>T (p.Gly1604Trp)
c.20G>T
c.4711G>T (p.Gly1571Trp)
c.4252G>T (p.Gly1418Trp)
c.3391G>T (p.Gly1131Trp)
n.5192G>T
n.5196G>T
1g.1050576G>ACA337780386AGRNc.5126G>A (p.Gly1709Glu)
c.4811G>A (p.Gly1604Glu)
c.21G>A
c.4712G>A (p.Gly1571Glu)
c.4253G>A (p.Gly1418Glu)
c.3392G>A (p.Gly1131Glu)
n.5193G>A
n.5197G>A
 dbSNP
1g.1050576G>CCA337780387AGRNc.5126G>C (p.Gly1709Ala)
c.4811G>C (p.Gly1604Ala)
c.21G>C
c.4712G>C (p.Gly1571Ala)
c.4253G>C (p.Gly1418Ala)
c.3392G>C (p.Gly1131Ala)
n.5193G>C
n.5197G>C
1g.1050576G=CA1148751517AGRNc.5126G= (p.Gly1709=)
c.4811G= (p.Gly1604=)
c.21G=
c.4712G= (p.Gly1571=)
c.4253G= (p.Gly1418=)
c.3392G= (p.Gly1131=)
n.5193G=
n.5197G=
1g.1050576G>TCA337780388AGRNc.5126G>T (p.Gly1709Val)
c.4811G>T (p.Gly1604Val)
c.21G>T
c.4712G>T (p.Gly1571Val)
c.4253G>T (p.Gly1418Val)
c.3392G>T (p.Gly1131Val)
n.5193G>T
n.5197G>T
 gnomAD v4
1g.1050577G>ACA415759191AGRNc.5127G>A (p.Gly1709=)
c.4812G>A (p.Gly1604=)
c.22G>A
c.4713G>A (p.Gly1571=)
c.4254G>A (p.Gly1418=)
c.3393G>A (p.Gly1131=)
n.5194G>A
n.5198G>A
1g.1050577G>CCA415759192AGRNc.5127G>C (p.Gly1709=)
c.4812G>C (p.Gly1604=)
c.22G>C
c.4713G>C (p.Gly1571=)
c.4254G>C (p.Gly1418=)
c.3393G>C (p.Gly1131=)
n.5194G>C
n.5198G>C
1g.1050577G>TCA415759193AGRNc.5127G>T (p.Gly1709=)
c.4812G>T (p.Gly1604=)
c.22G>T
c.4713G>T (p.Gly1571=)
c.4254G>T (p.Gly1418=)
c.3393G>T (p.Gly1131=)
n.5194G>T
n.5198G>T
1g.1050578G>ACA337780389AGRNc.5128G>A (p.Ala1710Thr)
c.4813G>A (p.Ala1605Thr)
c.23G>A
c.4714G>A (p.Ala1572Thr)
c.4255G>A (p.Ala1419Thr)
c.3394G>A (p.Ala1132Thr)
n.5195G>A
n.5199G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1050578G>CCA337780390AGRNc.5128G>C (p.Ala1710Pro)
c.4813G>C (p.Ala1605Pro)
c.23G>C
c.4714G>C (p.Ala1572Pro)
c.4255G>C (p.Ala1419Pro)
c.3394G>C (p.Ala1132Pro)
n.5195G>C
n.5199G>C
1g.1050578G=CA1148751529AGRNc.5128G= (p.Ala1710=)
c.4813G= (p.Ala1605=)
c.23G=
c.4714G= (p.Ala1572=)
c.4255G= (p.Ala1419=)
c.3394G= (p.Ala1132=)
n.5195G=
n.5199G=
1g.1050578G>TCA337780392AGRNc.5128G>T (p.Ala1710Ser)
c.4813G>T (p.Ala1605Ser)
c.23G>T
c.4714G>T (p.Ala1572Ser)
c.4255G>T (p.Ala1419Ser)
c.3394G>T (p.Ala1132Ser)
n.5195G>T
n.5199G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1050579C>ACA337780398AGRNc.5129C>A (p.Ala1710Glu)
c.4814C>A (p.Ala1605Glu)
c.24C>A
c.4715C>A (p.Ala1572Glu)
c.4256C>A (p.Ala1419Glu)
c.3395C>A (p.Ala1132Glu)
n.5196C>A
n.5200C>A
1g.1050579C>GCA337780396AGRNc.5129C>G (p.Ala1710Gly)
c.4814C>G (p.Ala1605Gly)
c.24C>G
c.4715C>G (p.Ala1572Gly)
c.4256C>G (p.Ala1419Gly)
c.3395C>G (p.Ala1132Gly)
n.5196C>G
n.5200C>G
1g.1050579C>TCA337780394AGRNc.5129C>T (p.Ala1710Val)
c.4814C>T (p.Ala1605Val)
c.24C>T
c.4715C>T (p.Ala1572Val)
c.4256C>T (p.Ala1419Val)
c.3395C>T (p.Ala1132Val)
n.5196C>T
n.5200C>T
 gnomAD v4
1g.1050580A>CCA415759195AGRNc.5130A>C (p.Ala1710=)
c.4815A>C (p.Ala1605=)
c.25A>C
c.4716A>C (p.Ala1572=)
c.4257A>C (p.Ala1419=)
c.3396A>C (p.Ala1132=)
n.5197A>C
n.5201A>C
1g.1050580A>GCA415759196AGRNc.5130A>G (p.Ala1710=)
c.4815A>G (p.Ala1605=)
c.25A>G
c.4716A>G (p.Ala1572=)
c.4257A>G (p.Ala1419=)
c.3396A>G (p.Ala1132=)
n.5197A>G
n.5201A>G
1g.1050580A>TCA415759199AGRNc.5130A>T (p.Ala1710=)
c.4815A>T (p.Ala1605=)
c.25A>T
c.4716A>T (p.Ala1572=)
c.4257A>T (p.Ala1419=)
c.3396A>T (p.Ala1132=)
n.5197A>T
n.5201A>T
1g.1050581G>ACA337780400AGRNc.5131G>A (p.Ala1711Thr)
c.4816G>A (p.Ala1606Thr)
c.26G>A
c.4717G>A (p.Ala1573Thr)
c.4258G>A (p.Ala1420Thr)
c.3397G>A (p.Ala1133Thr)
n.5198G>A
n.5202G>A
 gnomAD v4
1g.1050581G>CCA337780402AGRNc.5131G>C (p.Ala1711Pro)
c.4816G>C (p.Ala1606Pro)
c.26G>C
c.4717G>C (p.Ala1573Pro)
c.4258G>C (p.Ala1420Pro)
c.3397G>C (p.Ala1133Pro)
n.5198G>C
n.5202G>C
1g.1050581G>TCA337780403AGRNc.5131G>T (p.Ala1711Ser)
c.4816G>T (p.Ala1606Ser)
c.26G>T
c.4717G>T (p.Ala1573Ser)
c.4258G>T (p.Ala1420Ser)
c.3397G>T (p.Ala1133Ser)
n.5198G>T
n.5202G>T
1g.1050582C>ACA337780405AGRNc.5132C>A (p.Ala1711Glu)
c.4817C>A (p.Ala1606Glu)
c.27C>A
c.4718C>A (p.Ala1573Glu)
c.4259C>A (p.Ala1420Glu)
c.3398C>A (p.Ala1133Glu)
n.5199C>A
n.5203C>A
1g.1050582C=CA1148751537AGRNc.5132C= (p.Ala1711=)
c.4817C= (p.Ala1606=)
c.27C=
c.4718C= (p.Ala1573=)
c.4259C= (p.Ala1420=)
c.3398C= (p.Ala1133=)
n.5199C=
n.5203C=
1g.1050582C>GCA337780406AGRNc.5132C>G (p.Ala1711Gly)
c.4817C>G (p.Ala1606Gly)
c.27C>G
c.4718C>G (p.Ala1573Gly)
c.4259C>G (p.Ala1420Gly)
c.3398C>G (p.Ala1133Gly)
n.5199C>G
n.5203C>G
1g.1050582C>TCA509859AGRNc.5132C>T (p.Ala1711Val)
c.4817C>T (p.Ala1606Val)
c.27C>T
c.4718C>T (p.Ala1573Val)
c.4259C>T (p.Ala1420Val)
c.3398C>T (p.Ala1133Val)
n.5199C>T
n.5203C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050583G>ACA509860AGRNc.5133G>A (p.Ala1711=)
c.4818G>A (p.Ala1606=)
c.28G>A
c.4719G>A (p.Ala1573=)
c.4260G>A (p.Ala1420=)
c.3399G>A (p.Ala1133=)
n.5200G>A
n.5204G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050583G>CCA415759212AGRNc.5133G>C (p.Ala1711=)
c.4818G>C (p.Ala1606=)
c.28G>C
c.4719G>C (p.Ala1573=)
c.4260G>C (p.Ala1420=)
c.3399G>C (p.Ala1133=)
n.5200G>C
n.5204G>C
1g.1050583G=CA1144132471AGRNc.5133G= (p.Ala1711=)
c.4818G= (p.Ala1606=)
c.28G=
c.4719G= (p.Ala1573=)
c.4260G= (p.Ala1420=)
c.3399G= (p.Ala1133=)
n.5200G=
n.5204G=
1g.1050583G>TCA415759213AGRNc.5133G>T (p.Ala1711=)
c.4818G>T (p.Ala1606=)
c.28G>T
c.4719G>T (p.Ala1573=)
c.4260G>T (p.Ala1420=)
c.3399G>T (p.Ala1133=)
n.5200G>T
n.5204G>T
1g.1050584G>ACA337780420AGRNc.5134G>A (p.Val1712Ile)
c.4819G>A (p.Val1607Ile)
c.29G>A
c.4720G>A (p.Val1574Ile)
c.4261G>A (p.Val1421Ile)
c.3400G>A (p.Val1134Ile)
n.5201G>A
n.5205G>A
1g.1050584G>CCA337780422AGRNc.5134G>C (p.Val1712Leu)
c.4819G>C (p.Val1607Leu)
c.29G>C
c.4720G>C (p.Val1574Leu)
c.4261G>C (p.Val1421Leu)
c.3400G>C (p.Val1134Leu)
n.5201G>C
n.5205G>C
1g.1050584G>TCA337780424AGRNc.5134G>T (p.Val1712Phe)
c.4819G>T (p.Val1607Phe)
c.29G>T
c.4720G>T (p.Val1574Phe)
c.4261G>T (p.Val1421Phe)
c.3400G>T (p.Val1134Phe)
n.5201G>T
n.5205G>T
1g.1050585T>ACA337780426AGRNc.5135T>A (p.Val1712Asp)
c.4820T>A (p.Val1607Asp)
c.30T>A
c.4721T>A (p.Val1574Asp)
c.4262T>A (p.Val1421Asp)
c.3401T>A (p.Val1134Asp)
n.5202T>A
n.5206T>A
1g.1050585T>CCA337780428AGRNc.5135T>C (p.Val1712Ala)
c.4820T>C (p.Val1607Ala)
c.30T>C
c.4721T>C (p.Val1574Ala)
c.4262T>C (p.Val1421Ala)
c.3401T>C (p.Val1134Ala)
n.5202T>C
n.5206T>C
1g.1050585T>GCA337780430AGRNc.5135T>G (p.Val1712Gly)
c.4820T>G (p.Val1607Gly)
c.30T>G
c.4721T>G (p.Val1574Gly)
c.4262T>G (p.Val1421Gly)
c.3401T>G (p.Val1134Gly)
n.5202T>G
n.5206T>G
1g.1050586C>ACA415759217AGRNc.5136C>A (p.Val1712=)
c.4821C>A (p.Val1607=)
c.31C>A
c.4722C>A (p.Val1574=)
c.4263C>A (p.Val1421=)
c.3402C>A (p.Val1134=)
n.5203C>A
n.5207C>A
1g.1050586C>GCA415759215AGRNc.5136C>G (p.Val1712=)
c.4821C>G (p.Val1607=)
c.31C>G
c.4722C>G (p.Val1574=)
c.4263C>G (p.Val1421=)
c.3402C>G (p.Val1134=)
n.5203C>G
n.5207C>G
1g.1050586C>TCA415759218AGRNc.5136C>T (p.Val1712=)
c.4821C>T (p.Val1607=)
c.31C>T
c.4722C>T (p.Val1574=)
c.4263C>T (p.Val1421=)
c.3402C>T (p.Val1134=)
n.5203C>T
n.5207C>T
1g.1050587A>CCA337780434AGRNc.5137A>C (p.Ile1713Leu)
c.4822A>C (p.Ile1608Leu)
c.32A>C
c.4723A>C (p.Ile1575Leu)
c.4264A>C (p.Ile1422Leu)
c.3403A>C (p.Ile1135Leu)
n.5204A>C
n.5208A>C
1g.1050587A>GCA337780433AGRNc.5137A>G (p.Ile1713Val)
c.4822A>G (p.Ile1608Val)
c.32A>G
c.4723A>G (p.Ile1575Val)
c.4264A>G (p.Ile1422Val)
c.3403A>G (p.Ile1135Val)
n.5204A>G
n.5208A>G
1g.1050587A>TCA337780432AGRNc.5137A>T (p.Ile1713Phe)
c.4822A>T (p.Ile1608Phe)
c.32A>T
c.4723A>T (p.Ile1575Phe)
c.4264A>T (p.Ile1422Phe)
c.3403A>T (p.Ile1135Phe)
n.5204A>T
n.5208A>T
1g.1050588T>ACA337780438AGRNc.5138T>A (p.Ile1713Asn)
c.4823T>A (p.Ile1608Asn)
c.33T>A
c.4724T>A (p.Ile1575Asn)
c.4265T>A (p.Ile1422Asn)
c.3404T>A (p.Ile1135Asn)
n.5205T>A
n.5209T>A
1g.1050588T>CCA337780436AGRNc.5138T>C (p.Ile1713Thr)
c.4823T>C (p.Ile1608Thr)
c.33T>C
c.4724T>C (p.Ile1575Thr)
c.4265T>C (p.Ile1422Thr)
c.3404T>C (p.Ile1135Thr)
n.5205T>C
n.5209T>C
 gnomAD v4
1g.1050588T>GCA337780440AGRNc.5138T>G (p.Ile1713Ser)
c.4823T>G (p.Ile1608Ser)
c.33T>G
c.4724T>G (p.Ile1575Ser)
c.4265T>G (p.Ile1422Ser)
c.3404T>G (p.Ile1135Ser)
n.5205T>G
n.5209T>G
1g.1050589C>ACA415759220AGRNc.5139C>A (p.Ile1713=)
c.4824C>A (p.Ile1608=)
c.34C>A
c.4725C>A (p.Ile1575=)
c.4266C>A (p.Ile1422=)
c.3405C>A (p.Ile1135=)
n.5206C>A
n.5210C>A
 gnomAD v4
1g.1050589C>GCA337780443AGRNc.5139C>G (p.Ile1713Met)
c.4824C>G (p.Ile1608Met)
c.34C>G
c.4725C>G (p.Ile1575Met)
c.4266C>G (p.Ile1422Met)
c.3405C>G (p.Ile1135Met)
n.5206C>G
n.5210C>G
1g.1050589C>TCA415759222AGRNc.5139C>T (p.Ile1713=)
c.4824C>T (p.Ile1608=)
c.34C>T
c.4725C>T (p.Ile1575=)
c.4266C>T (p.Ile1422=)
c.3405C>T (p.Ile1135=)
n.5206C>T
n.5210C>T
1g.1050590A>CCA415759224AGRNc.5140A>C (p.Arg1714=)
c.4825A>C (p.Arg1609=)
c.35A>C
c.4726A>C (p.Arg1576=)
c.4267A>C (p.Arg1423=)
c.3406A>C (p.Arg1136=)
n.5207A>C
n.5211A>C
1g.1050590A>GCA337780444AGRNc.5140A>G (p.Arg1714Gly)
c.4825A>G (p.Arg1609Gly)
c.35A>G
c.4726A>G (p.Arg1576Gly)
c.4267A>G (p.Arg1423Gly)
c.3406A>G (p.Arg1136Gly)
n.5207A>G
n.5211A>G
1g.1050590A>TCA337780446AGRNc.5140A>T (p.Arg1714Trp)
c.4825A>T (p.Arg1609Trp)
c.35A>T
c.4726A>T (p.Arg1576Trp)
c.4267A>T (p.Arg1423Trp)
c.3406A>T (p.Arg1136Trp)
n.5207A>T
n.5211A>T
1g.1050591G>ACA337780449AGRNc.5141G>A (p.Arg1714Lys)
c.4826G>A (p.Arg1609Lys)
c.36G>A
c.4727G>A (p.Arg1576Lys)
c.4268G>A (p.Arg1423Lys)
c.3407G>A (p.Arg1136Lys)
n.5208G>A
n.5212G>A
1g.1050591G>CCA337780451AGRNc.5141G>C (p.Arg1714Thr)
c.4826G>C (p.Arg1609Thr)
c.36G>C
c.4727G>C (p.Arg1576Thr)
c.4268G>C (p.Arg1423Thr)
c.3407G>C (p.Arg1136Thr)
n.5208G>C
n.5212G>C
1g.1050591G>TCA337780453AGRNc.5141G>T (p.Arg1714Met)
c.4826G>T (p.Arg1609Met)
c.36G>T
c.4727G>T (p.Arg1576Met)
c.4268G>T (p.Arg1423Met)
c.3407G>T (p.Arg1136Met)
n.5208G>T
n.5212G>T
 gnomAD v4
1g.1050592G>ACA337780454AGRNc.5141+1G>A (n.5141+1G>A)
c.4826+1G>A (n.4826+1G>A)
c.36+1G>A
c.4727+1G>A (n.4727+1G>A)
c.4268+1G>A (n.4268+1G>A)
c.3407+1G>A (n.3407+1G>A)
n.5208+1G>A
n.5212+1G>A
1g.1050592G>CCA337780455AGRNc.5141+1G>C (n.5141+1G>C)
c.4826+1G>C (n.4826+1G>C)
c.36+1G>C
c.4727+1G>C (n.4727+1G>C)
c.4268+1G>C (n.4268+1G>C)
c.3407+1G>C (n.3407+1G>C)
n.5208+1G>C
n.5212+1G>C
1g.1050592G>TCA337780456AGRNc.5141+1G>T (n.5141+1G>T)
c.4826+1G>T (n.4826+1G>T)
c.36+1G>T
c.4727+1G>T (n.4727+1G>T)
c.4268+1G>T (n.4268+1G>T)
c.3407+1G>T (n.3407+1G>T)
n.5208+1G>T
n.5212+1G>T
1g.1050593T>ACA337780457AGRNc.5141+2T>A (n.5141+2T>A)
c.4826+2T>A (n.4826+2T>A)
c.36+2T>A
c.4727+2T>A (n.4727+2T>A)
c.4268+2T>A (n.4268+2T>A)
c.3407+2T>A (n.3407+2T>A)
n.5208+2T>A
n.5212+2T>A
1g.1050593T>CCA337780458AGRNc.5141+2T>C (n.5141+2T>C)
c.4826+2T>C (n.4826+2T>C)
c.36+2T>C
c.4727+2T>C (n.4727+2T>C)
c.4268+2T>C (n.4268+2T>C)
c.3407+2T>C (n.3407+2T>C)
n.5208+2T>C
n.5212+2T>C
1g.1050593T>GCA337780459AGRNc.5141+2T>G (n.5141+2T>G)
c.4826+2T>G (n.4826+2T>G)
c.36+2T>G
c.4727+2T>G (n.4727+2T>G)
c.4268+2T>G (n.4268+2T>G)
c.3407+2T>G (n.3407+2T>G)
n.5208+2T>G
n.5212+2T>G
1g.1050594G>ACA2642492345AGRNc.5141+3G>A (n.5141+3G>A)
c.4826+3G>A (n.4826+3G>A)
c.36+3G>A
c.4727+3G>A (n.4727+3G>A)
c.4268+3G>A (n.4268+3G>A)
c.3407+3G>A (n.3407+3G>A)
n.5208+3G>A
n.5212+3G>A
 gnomAD v4
1g.1050595G>ACA2573130459AGRNc.5141+4G>A (n.5141+4G>A)
c.4826+4G>A (n.4826+4G>A)
c.36+4G>A
c.4727+4G>A (n.4727+4G>A)
c.4268+4G>A (n.4268+4G>A)
c.3407+4G>A (n.3407+4G>A)
n.5208+4G>A
n.5212+4G>A
 ClinVar dbSNP
1g.1050596G>ACA520625228AGRNc.5141+5G>A (n.5141+5G>A)
c.4826+5G>A (n.4826+5G>A)
c.36+5G>A
c.4727+5G>A (n.4727+5G>A)
c.4268+5G>A (n.4268+5G>A)
c.3407+5G>A (n.3407+5G>A)
n.5208+5G>A
n.5212+5G>A
 dbSNP gnomAD v2 gnomAD v4
1g.1050596G>CCA509861AGRNc.5141+5G>C (n.5141+5G>C)
c.4826+5G>C (n.4826+5G>C)
c.36+5G>C
c.4727+5G>C (n.4727+5G>C)
c.4268+5G>C (n.4268+5G>C)
c.3407+5G>C (n.3407+5G>C)
n.5208+5G>C
n.5212+5G>C
 dbSNP ExAC gnomAD v2
1g.1050596G=CA1148751551AGRNc.5141+5G= (n.5141+5G=)
c.4826+5G= (n.4826+5G=)
c.36+5G=
c.4727+5G= (n.4727+5G=)
c.4268+5G= (n.4268+5G=)
c.3407+5G= (n.3407+5G=)
n.5208+5G=
n.5212+5G=
1g.1050596G>TCA520625229AGRNc.5141+5G>T (n.5141+5G>T)
c.4826+5G>T (n.4826+5G>T)
c.36+5G>T
c.4727+5G>T (n.4727+5G>T)
c.4268+5G>T (n.4268+5G>T)
c.3407+5G>T (n.3407+5G>T)
n.5208+5G>T
n.5212+5G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1050597C>ACA2742134950AGRNc.5141+6C>A (n.5141+6C>A)
c.4826+6C>A (n.4826+6C>A)
c.36+6C>A
c.4727+6C>A (n.4727+6C>A)
c.4268+6C>A (n.4268+6C>A)
c.3407+6C>A (n.3407+6C>A)
n.5208+6C>A
n.5212+6C>A
1g.1050597C=CA1148471363AGRNc.5141+6C= (n.5141+6C=)
c.4826+6C= (n.4826+6C=)
c.36+6C=
c.4727+6C= (n.4727+6C=)
c.4268+6C= (n.4268+6C=)
c.3407+6C= (n.3407+6C=)
n.5208+6C=
n.5212+6C=
1g.1050597C>TCA509862AGRNc.5141+6C>T (n.5141+6C>T)
c.4826+6C>T (n.4826+6C>T)
c.36+6C>T
c.4727+6C>T (n.4727+6C>T)
c.4268+6C>T (n.4268+6C>T)
c.3407+6C>T (n.3407+6C>T)
n.5208+6C>T
n.5212+6C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1050598C=CA1148751572AGRNc.5141+7C= (n.5141+7C=)
c.4826+7C= (n.4826+7C=)
c.36+7C=
c.4727+7C= (n.4727+7C=)
c.4268+7C= (n.4268+7C=)
c.3407+7C= (n.3407+7C=)
n.5208+7C=
n.5212+7C=
1g.1050598C>GCA509864AGRNc.5141+7C>G (n.5141+7C>G)
c.4826+7C>G (n.4826+7C>G)
c.36+7C>G
c.4727+7C>G (n.4727+7C>G)
c.4268+7C>G (n.4268+7C>G)
c.3407+7C>G (n.3407+7C>G)
n.5208+7C>G
n.5212+7C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1050598C>TCA509863AGRNc.5141+7C>T (n.5141+7C>T)
c.4826+7C>T (n.4826+7C>T)
c.36+7C>T
c.4727+7C>T (n.4727+7C>T)
c.4268+7C>T (n.4268+7C>T)
c.3407+7C>T (n.3407+7C>T)
n.5208+7C>T
n.5212+7C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050599G>ACA509865AGRNc.5141+8G>A (n.5141+8G>A)
c.4826+8G>A (n.4826+8G>A)
c.36+8G>A
c.4727+8G>A (n.4727+8G>A)
c.4268+8G>A (n.4268+8G>A)
c.3407+8G>A (n.3407+8G>A)
n.5208+8G>A
n.5212+8G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050599G=CA1146417195AGRNc.5141+8G= (n.5141+8G=)
c.4826+8G= (n.4826+8G=)
c.36+8G=
c.4727+8G= (n.4727+8G=)
c.4268+8G= (n.4268+8G=)
c.3407+8G= (n.3407+8G=)
n.5208+8G=
n.5212+8G=
1g.1050600G>ACA1148751595AGRNc.5141+9G>A (n.5141+9G>A)
c.4826+9G>A (n.4826+9G>A)
c.36+9G>A
c.4727+9G>A (n.4727+9G>A)
c.4268+9G>A (n.4268+9G>A)
c.3407+9G>A (n.3407+9G>A)
n.5208+9G>A
n.5212+9G>A
 dbSNP gnomAD v4
1g.1050600G=CA1148751585AGRNc.5141+9G= (n.5141+9G=)
c.4826+9G= (n.4826+9G=)
c.36+9G=
c.4727+9G= (n.4727+9G=)
c.4268+9G= (n.4268+9G=)
c.3407+9G= (n.3407+9G=)
n.5208+9G=
n.5212+9G=
1g.1050601C>GCA2642492360AGRNc.5141+10C>G (n.5141+10C>G)
c.4826+10C>G (n.4826+10C>G)
c.36+10C>G
c.4727+10C>G (n.4727+10C>G)
c.4268+10C>G (n.4268+10C>G)
c.3407+10C>G (n.3407+10C>G)
n.5208+10C>G
n.5212+10C>G
 gnomAD v4
1g.1050601C>TCA2642492362AGRNc.5141+10C>T (n.5141+10C>T)
c.4826+10C>T (n.4826+10C>T)
c.36+10C>T
c.4727+10C>T (n.4727+10C>T)
c.4268+10C>T (n.4268+10C>T)
c.3407+10C>T (n.3407+10C>T)
n.5208+10C>T
n.5212+10C>T
 gnomAD v4
1g.1050602A=CA1148751597AGRNc.5141+11A= (n.5141+11A=)
c.4826+11A= (n.4826+11A=)
c.36+11A=
c.4727+11A= (n.4727+11A=)
c.4268+11A= (n.4268+11A=)
c.3407+11A= (n.3407+11A=)
n.5208+11A=
n.5212+11A=
1g.1050602A>GCA1148751598AGRNc.5141+11A>G (n.5141+11A>G)
c.4826+11A>G (n.4826+11A>G)
c.36+11A>G
c.4727+11A>G (n.4727+11A>G)
c.4268+11A>G (n.4268+11A>G)
c.3407+11A>G (n.3407+11A>G)
n.5208+11A>G
n.5212+11A>G
 dbSNP gnomAD v3 gnomAD v4
1g.1050602_1050611delCA2742134951AGRNc.5141+11_5141+20del (n.5141+11_5141+20del)
c.4826+11_4826+20del (n.4826+11_4826+20del)
c.36+11_36+20del
c.4727+11_4727+20del (n.4727+11_4727+20del)
c.4268+11_4268+20del (n.4268+11_4268+20del)
c.3407+11_3407+20del (n.3407+11_3407+20del)
n.5208+11_5208+20del
n.5212+11_5212+20del
1g.1050604G>ACA2642492364AGRNc.5141+13G>A (n.5141+13G>A)
c.4826+13G>A (n.4826+13G>A)
c.36+13G>A
c.4727+13G>A (n.4727+13G>A)
c.4268+13G>A (n.4268+13G>A)
c.3407+13G>A (n.3407+13G>A)
n.5208+13G>A
n.5212+13G>A
 gnomAD v4
1g.1050604G>TCA2642492365AGRNc.5141+13G>T (n.5141+13G>T)
c.4826+13G>T (n.4826+13G>T)
c.36+13G>T
c.4727+13G>T (n.4727+13G>T)
c.4268+13G>T (n.4268+13G>T)
c.3407+13G>T (n.3407+13G>T)
n.5208+13G>T
n.5212+13G>T
 gnomAD v4
1g.1050605G>ACA884900435AGRNc.5141+14G>A (n.5141+14G>A)
c.4826+14G>A (n.4826+14G>A)
c.36+14G>A
c.4727+14G>A (n.4727+14G>A)
c.4268+14G>A (n.4268+14G>A)
c.3407+14G>A (n.3407+14G>A)
n.5208+14G>A
n.5212+14G>A
 dbSNP gnomAD v3 gnomAD v4
1g.1050605G>CCA509866AGRNc.5141+14G>C (n.5141+14G>C)
c.4826+14G>C (n.4826+14G>C)
c.36+14G>C
c.4727+14G>C (n.4727+14G>C)
c.4268+14G>C (n.4268+14G>C)
c.3407+14G>C (n.3407+14G>C)
n.5208+14G>C
n.5212+14G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050605G=CA1148751602AGRNc.5141+14G= (n.5141+14G=)
c.4826+14G= (n.4826+14G=)
c.36+14G=
c.4727+14G= (n.4727+14G=)
c.4268+14G= (n.4268+14G=)
c.3407+14G= (n.3407+14G=)
n.5208+14G=
n.5212+14G=
1g.1050606G>CCA997657979AGRNc.5141+15G>C (n.5141+15G>C)
c.4826+15G>C (n.4826+15G>C)
c.36+15G>C
c.4727+15G>C (n.4727+15G>C)
c.4268+15G>C (n.4268+15G>C)
c.3407+15G>C (n.3407+15G>C)
n.5208+15G>C
n.5212+15G>C
 dbSNP gnomAD v3 gnomAD v4
1g.1050606G=CA1148751616AGRNc.5141+15G= (n.5141+15G=)
c.4826+15G= (n.4826+15G=)
c.36+15G=
c.4727+15G= (n.4727+15G=)
c.4268+15G= (n.4268+15G=)
c.3407+15G= (n.3407+15G=)
n.5208+15G=
n.5212+15G=
1g.1050606_1050607delinsGTCA1148751609AGRNc.5141+15_5141+16delinsGT (n.5141+15_5141+16delinsGT)
c.4826+15_4826+16delinsGT (n.4826+15_4826+16delinsGT)
c.36+15_36+16delinsGT
c.4727+15_4727+16delinsGT (n.4727+15_4727+16delinsGT)
c.4268+15_4268+16delinsGT (n.4268+15_4268+16delinsGT)
c.3407+15_3407+16delinsGT (n.3407+15_3407+16delinsGT)
n.5208+15_5208+16delinsGT
n.5212+15_5212+16delinsGT
1g.1050607delCA884900437AGRNc.5141+16del (n.5141+16del)
c.4826+16del (n.4826+16del)
c.36+16del
c.4727+16del (n.4727+16del)
c.4268+16del (n.4268+16del)
c.3407+16del (n.3407+16del)
n.5208+16del
n.5212+16del
 dbSNP
1g.1050607T>GCA1148751640AGRNc.5141+16T>G (n.5141+16T>G)
c.4826+16T>G (n.4826+16T>G)
c.36+16T>G
c.4727+16T>G (n.4727+16T>G)
c.4268+16T>G (n.4268+16T>G)
c.3407+16T>G (n.3407+16T>G)
n.5208+16T>G
n.5212+16T>G
 dbSNP
1g.1050607T=CA1148751633AGRNc.5141+16T= (n.5141+16T=)
c.4826+16T= (n.4826+16T=)
c.36+16T=
c.4727+16T= (n.4727+16T=)
c.4268+16T= (n.4268+16T=)
c.3407+16T= (n.3407+16T=)
n.5208+16T=
n.5212+16T=
1g.1050609G>ACA884900438AGRNc.5141+18G>A (n.5141+18G>A)
c.4826+18G>A (n.4826+18G>A)
c.36+18G>A
c.4727+18G>A (n.4727+18G>A)
c.4268+18G>A (n.4268+18G>A)
c.3407+18G>A (n.3407+18G>A)
n.5208+18G>A
n.5212+18G>A
 dbSNP gnomAD v3 gnomAD v4
1g.1050609G=CA1148751654AGRNc.5141+18G= (n.5141+18G=)
c.4826+18G= (n.4826+18G=)
c.36+18G=
c.4727+18G= (n.4727+18G=)
c.4268+18G= (n.4268+18G=)
c.3407+18G= (n.3407+18G=)
n.5208+18G=
n.5212+18G=
1g.1050611T>CCA2642492370AGRNc.5141+20T>C (n.5141+20T>C)
c.4826+20T>C (n.4826+20T>C)
c.36+20T>C
c.4727+20T>C (n.4727+20T>C)
c.4268+20T>C (n.4268+20T>C)
c.3407+20T>C (n.3407+20T>C)
n.5208+20T>C
n.5212+20T>C
 gnomAD v4
1g.1050612C=CA1148751667AGRNc.5141+21C= (n.5141+21C=)
c.4826+21C= (n.4826+21C=)
c.36+21C=
c.4727+21C= (n.4727+21C=)
c.4268+21C= (n.4268+21C=)
c.3407+21C= (n.3407+21C=)
n.5208+21C=
n.5212+21C=
1g.1050612C>GCA884900439AGRNc.5141+21C>G (n.5141+21C>G)
c.4826+21C>G (n.4826+21C>G)
c.36+21C>G
c.4727+21C>G (n.4727+21C>G)
c.4268+21C>G (n.4268+21C>G)
c.3407+21C>G (n.3407+21C>G)
n.5208+21C>G
n.5212+21C>G
 dbSNP gnomAD v3 gnomAD v4
1g.1050615G>ACA2642492373AGRNc.5141+24G>A (n.5141+24G>A)
c.4826+24G>A (n.4826+24G>A)
c.36+24G>A
c.4727+24G>A (n.4727+24G>A)
c.4268+24G>A (n.4268+24G>A)
c.3407+24G>A (n.3407+24G>A)
n.5208+24G>A
n.5212+24G>A
 gnomAD v4
1g.1050615G>CCA520625230AGRNc.5141+24G>C (n.5141+24G>C)
c.4826+24G>C (n.4826+24G>C)
c.36+24G>C
c.4727+24G>C (n.4727+24G>C)
c.4268+24G>C (n.4268+24G>C)
c.3407+24G>C (n.3407+24G>C)
n.5208+24G>C
n.5212+24G>C
 dbSNP gnomAD v2 gnomAD v4
1g.1050615G=CA1148751669AGRNc.5141+24G= (n.5141+24G=)
c.4826+24G= (n.4826+24G=)
c.36+24G=
c.4727+24G= (n.4727+24G=)
c.4268+24G= (n.4268+24G=)
c.3407+24G= (n.3407+24G=)
n.5208+24G=
n.5212+24G=
1g.1050616G>TCA2642492376AGRNc.5141+25G>T (n.5141+25G>T)
c.4826+25G>T (n.4826+25G>T)
c.36+25G>T
c.4727+25G>T (n.4727+25G>T)
c.4268+25G>T (n.4268+25G>T)
c.3407+25G>T (n.3407+25G>T)
n.5208+25G>T
n.5212+25G>T
 gnomAD v4
1g.1050619_1050698delCA2642492375AGRNc.5141+28_5142-28del (n.5141+28_5142-28del)
c.4826+28_4827-28del (n.4826+28_4827-28del)
c.36+28_37-28del
c.4727+28_4728-28del (n.4727+28_4728-28del)
c.4268+28_4269-28del (n.4268+28_4269-28del)
c.3407+28_3408-28del (n.3407+28_3408-28del)
n.5208+28_5209-28del
n.5212+28_5213-28del
 gnomAD v4
1g.1050617A>GCA415759232AGRNc.5141+26A>G (n.5141+26A>G)
c.4826+26A>G (n.4826+26A>G)
c.36+26A>G
c.4727+26A>G (n.4727+26A>G)
c.4268+26A>G (n.4268+26A>G)
c.3407+26A>G (n.3407+26A>G)
n.5208+26A>G
n.5212+26A>G
1g.1050618G>ACA1148751673AGRNc.5141+27G>A (n.5141+27G>A)
c.4826+27G>A (n.4826+27G>A)
c.36+27G>A
c.4727+27G>A (n.4727+27G>A)
c.4268+27G>A (n.4268+27G>A)
c.3407+27G>A (n.3407+27G>A)
n.5208+27G>A
n.5212+27G>A
 dbSNP
1g.1050618G=CA1148751671AGRNc.5141+27G= (n.5141+27G=)
c.4826+27G= (n.4826+27G=)
c.36+27G=
c.4727+27G= (n.4727+27G=)
c.4268+27G= (n.4268+27G=)
c.3407+27G= (n.3407+27G=)
n.5208+27G=
n.5212+27G=
1g.1050622_1050641delCA2574221950AGRNc.5141+31_5141+50del (n.5141+31_5141+50del)
c.4826+31_4826+50del (n.4826+31_4826+50del)
c.36+31_36+50del
c.4727+31_4727+50del (n.4727+31_4727+50del)
c.4268+31_4268+50del (n.4268+31_4268+50del)
c.3407+31_3407+50del (n.3407+31_3407+50del)
n.5208+31_5208+50del
n.5212+31_5212+50del
1g.1050619G>ACA2581635267AGRNc.5141+28G>A (n.5141+28G>A)
c.4826+28G>A (n.4826+28G>A)
c.36+28G>A
c.4727+28G>A (n.4727+28G>A)
c.4268+28G>A (n.4268+28G>A)
c.3407+28G>A (n.3407+28G>A)
n.5208+28G>A
n.5212+28G>A
 gnomAD v4
1g.1050619G>CCA884900457AGRNc.5141+28G>C (n.5141+28G>C)
c.4826+28G>C (n.4826+28G>C)
c.36+28G>C
c.4727+28G>C (n.4727+28G>C)
c.4268+28G>C (n.4268+28G>C)
c.3407+28G>C (n.3407+28G>C)
n.5208+28G>C
n.5212+28G>C
 dbSNP
1g.1050619G=CA1141222098AGRNc.5141+28G= (n.5141+28G=)
c.4826+28G= (n.4826+28G=)
c.36+28G=
c.4727+28G= (n.4727+28G=)
c.4268+28G= (n.4268+28G=)
c.3407+28G= (n.3407+28G=)
n.5208+28G=
n.5212+28G=
1g.1050619G>TCA509867AGRNc.5141+28G>T (n.5141+28G>T)
c.4826+28G>T (n.4826+28G>T)
c.36+28G>T
c.4727+28G>T (n.4727+28G>T)
c.4268+28G>T (n.4268+28G>T)
c.3407+28G>T (n.3407+28G>T)
n.5208+28G>T
n.5212+28G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050620C>TCA2642492384AGRNc.5141+29C>T (n.5141+29C>T)
c.4826+29C>T (n.4826+29C>T)
c.36+29C>T
c.4727+29C>T (n.4727+29C>T)
c.4268+29C>T (n.4268+29C>T)
c.3407+29C>T (n.3407+29C>T)
n.5208+29C>T
n.5212+29C>T
 gnomAD v4
1g.1050620_1050622delCA997657992AGRNc.5141+29_5141+31del (n.5141+29_5141+31del)
c.4826+29_4826+31del (n.4826+29_4826+31del)
c.36+29_36+31del
c.4727+29_4727+31del (n.4727+29_4727+31del)
c.4268+29_4268+31del (n.4268+29_4268+31del)
c.3407+29_3407+31del (n.3407+29_3407+31del)
n.5208+29_5208+31del
n.5212+29_5212+31del
 gnomAD v3 gnomAD v4
1g.1050621C>ACA520625231AGRNc.5141+30C>A (n.5141+30C>A)
c.4826+30C>A (n.4826+30C>A)
c.36+30C>A
c.4727+30C>A (n.4727+30C>A)
c.4268+30C>A (n.4268+30C>A)
c.3407+30C>A (n.3407+30C>A)
n.5208+30C>A
n.5212+30C>A
 dbSNP gnomAD v2
1g.1050621C=CA1148751695AGRNc.5141+30C= (n.5141+30C=)
c.4826+30C= (n.4826+30C=)
c.36+30C=
c.4727+30C= (n.4727+30C=)
c.4268+30C= (n.4268+30C=)
c.3407+30C= (n.3407+30C=)
n.5208+30C=
n.5212+30C=
1g.1050621C>GCA509868AGRNc.5141+30C>G (n.5141+30C>G)
c.4826+30C>G (n.4826+30C>G)
c.36+30C>G
c.4727+30C>G (n.4727+30C>G)
c.4268+30C>G (n.4268+30C>G)
c.3407+30C>G (n.3407+30C>G)
n.5208+30C>G
n.5212+30C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050621C>TCA2642492386AGRNc.5141+30C>T (n.5141+30C>T)
c.4826+30C>T (n.4826+30C>T)
c.36+30C>T
c.4727+30C>T (n.4727+30C>T)
c.4268+30C>T (n.4268+30C>T)
c.3407+30C>T (n.3407+30C>T)
n.5208+30C>T
n.5212+30C>T
 dbSNP gnomAD v4
1g.1050622T>CCA520625232AGRNc.5141+31T>C (n.5141+31T>C)
c.4826+31T>C (n.4826+31T>C)
c.36+31T>C
c.4727+31T>C (n.4727+31T>C)
c.4268+31T>C (n.4268+31T>C)
c.3407+31T>C (n.3407+31T>C)
n.5208+31T>C
n.5212+31T>C
 dbSNP gnomAD v2 gnomAD v4
1g.1050622T=CA1148751703AGRNc.5141+31T= (n.5141+31T=)
c.4826+31T= (n.4826+31T=)
c.36+31T=
c.4727+31T= (n.4727+31T=)
c.4268+31T= (n.4268+31T=)
c.3407+31T= (n.3407+31T=)
n.5208+31T=
n.5212+31T=
1g.1050623G>ACA2642492393AGRNc.5141+32G>A (n.5141+32G>A)
c.4826+32G>A (n.4826+32G>A)
c.36+32G>A
c.4727+32G>A (n.4727+32G>A)
c.4268+32G>A (n.4268+32G>A)
c.3407+32G>A (n.3407+32G>A)
n.5208+32G>A
n.5212+32G>A
 gnomAD v4
1g.1050623G>TCA2642492394AGRNc.5141+32G>T (n.5141+32G>T)
c.4826+32G>T (n.4826+32G>T)
c.36+32G>T
c.4727+32G>T (n.4727+32G>T)
c.4268+32G>T (n.4268+32G>T)
c.3407+32G>T (n.3407+32G>T)
n.5208+32G>T
n.5212+32G>T
 gnomAD v4
1g.1050626delCA2642492392AGRNc.5141+35del (n.5141+35del)
c.4826+35del (n.4826+35del)
c.36+35del
c.4727+35del (n.4727+35del)
c.4268+35del (n.4268+35del)
c.3407+35del (n.3407+35del)
n.5208+35del
n.5212+35del
 gnomAD v4
1g.1050630_1050648dupCA509869AGRNc.5141+39_5141+57dup (n.5141+39_5141+57dup)
c.4826+39_4826+57dup (n.4826+39_4826+57dup)
c.36+39_36+57dup
c.4727+39_4727+57dup (n.4727+39_4727+57dup)
c.4268+39_4268+57dup (n.4268+39_4268+57dup)
c.3407+39_3407+57dup (n.3407+39_3407+57dup)
n.5208+39_5208+57dup
n.5212+39_5212+57dup
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1050625G>ACA997657996AGRNc.5141+34G>A (n.5141+34G>A)
c.4826+34G>A (n.4826+34G>A)
c.36+34G>A
c.4727+34G>A (n.4727+34G>A)
c.4268+34G>A (n.4268+34G>A)
c.3407+34G>A (n.3407+34G>A)
n.5208+34G>A
n.5212+34G>A
 dbSNP gnomAD v3 gnomAD v4
1g.1050625G=CA1148751709AGRNc.5141+34G= (n.5141+34G=)
c.4826+34G= (n.4826+34G=)
c.36+34G=
c.4727+34G= (n.4727+34G=)
c.4268+34G= (n.4268+34G=)
c.3407+34G= (n.3407+34G=)
n.5208+34G=
n.5212+34G=
1g.1050625G>TCA2574221951AGRNc.5141+34G>T (n.5141+34G>T)
c.4826+34G>T (n.4826+34G>T)
c.36+34G>T
c.4727+34G>T (n.4727+34G>T)
c.4268+34G>T (n.4268+34G>T)
c.3407+34G>T (n.3407+34G>T)
n.5208+34G>T
n.5212+34G>T
 gnomAD v4
1g.1050626G>ACA2642492398AGRNc.5141+35G>A (n.5141+35G>A)
c.4826+35G>A (n.4826+35G>A)
c.36+35G>A
c.4727+35G>A (n.4727+35G>A)
c.4268+35G>A (n.4268+35G>A)
c.3407+35G>A (n.3407+35G>A)
n.5208+35G>A
n.5212+35G>A
 gnomAD v4
1g.1050627C>TCA2642492399AGRNc.5141+36C>T (n.5141+36C>T)
c.4826+36C>T (n.4826+36C>T)
c.36+36C>T
c.4727+36C>T (n.4727+36C>T)
c.4268+36C>T (n.4268+36C>T)
c.3407+36C>T (n.3407+36C>T)
n.5208+36C>T
n.5212+36C>T
 gnomAD v4
1g.1050628A=CA1148751714AGRNc.5141+37A= (n.5141+37A=)
c.4826+37A= (n.4826+37A=)
c.36+37A=
c.4727+37A= (n.4727+37A=)
c.4268+37A= (n.4268+37A=)
c.3407+37A= (n.3407+37A=)
n.5208+37A=
n.5212+37A=
1g.1050628A>CCA2574221952AGRNc.5141+37A>C (n.5141+37A>C)
c.4826+37A>C (n.4826+37A>C)
c.36+37A>C
c.4727+37A>C (n.4727+37A>C)
c.4268+37A>C (n.4268+37A>C)
c.3407+37A>C (n.3407+37A>C)
n.5208+37A>C
n.5212+37A>C
 gnomAD v4
1g.1050628A>GCA997657997AGRNc.5141+37A>G (n.5141+37A>G)
c.4826+37A>G (n.4826+37A>G)
c.36+37A>G
c.4727+37A>G (n.4727+37A>G)
c.4268+37A>G (n.4268+37A>G)
c.3407+37A>G (n.3407+37A>G)
n.5208+37A>G
n.5212+37A>G
 dbSNP gnomAD v3 gnomAD v4
1g.1050628_1050634delinsACTGGCCCA1148751715AGRNc.5141+37_5141+43delinsACTGGCC (n.5141+37_5141+43delinsACTGGCC)
c.4826+37_4826+43delinsACTGGCC (n.4826+37_4826+43delinsACTGGCC)
c.36+37_36+43delinsACTGGCC
c.4727+37_4727+43delinsACTGGCC (n.4727+37_4727+43delinsACTGGCC)
c.4268+37_4268+43delinsACTGGCC (n.4268+37_4268+43delinsACTGGCC)
c.3407+37_3407+43delinsACTGGCC (n.3407+37_3407+43delinsACTGGCC)
n.5208+37_5208+43delinsACTGGCC
n.5212+37_5212+43delinsACTGGCC
1g.1050629C=CA1148751767AGRNc.5141+38C= (n.5141+38C=)
c.4826+38C= (n.4826+38C=)
c.36+38C=
c.4727+38C= (n.4727+38C=)
c.4268+38C= (n.4268+38C=)
c.3407+38C= (n.3407+38C=)
n.5208+38C=
n.5212+38C=
1g.1050629C>TCA520668852AGRNc.5141+38C>T (n.5141+38C>T)
c.4826+38C>T (n.4826+38C>T)
c.36+38C>T
c.4727+38C>T (n.4727+38C>T)
c.4268+38C>T (n.4268+38C>T)
c.3407+38C>T (n.3407+38C>T)
n.5208+38C>T
n.5212+38C>T
 dbSNP gnomAD v2 gnomAD v4
1g.1050630_1050635delCA884900469AGRNc.5141+39_5141+44del (n.5141+39_5141+44del)
c.4826+39_4826+44del (n.4826+39_4826+44del)
c.36+39_36+44del
c.4727+39_4727+44del (n.4727+39_4727+44del)
c.4268+39_4268+44del (n.4268+39_4268+44del)
c.3407+39_3407+44del (n.3407+39_3407+44del)
n.5208+39_5208+44del
n.5212+39_5212+44del
 dbSNP
1g.1050630T>CCA509870AGRNc.5141+39T>C (n.5141+39T>C)
c.4826+39T>C (n.4826+39T>C)
c.36+39T>C
c.4727+39T>C (n.4727+39T>C)
c.4268+39T>C (n.4268+39T>C)
c.3407+39T>C (n.3407+39T>C)
n.5208+39T>C
n.5212+39T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050630T=CA1141518547AGRNc.5141+39T= (n.5141+39T=)
c.4826+39T= (n.4826+39T=)
c.36+39T=
c.4727+39T= (n.4727+39T=)
c.4268+39T= (n.4268+39T=)
c.3407+39T= (n.3407+39T=)
n.5208+39T=
n.5212+39T=
1g.1050630_1050631delCA913078569AGRNc.5141+39_5141+40del (n.5141+39_5141+40del)
c.4826+39_4826+40del (n.4826+39_4826+40del)
c.36+39_36+40del
c.4727+39_4727+40del (n.4727+39_4727+40del)
c.4268+39_4268+40del (n.4268+39_4268+40del)
c.3407+39_3407+40del (n.3407+39_3407+40del)
n.5208+39_5208+40del
n.5212+39_5212+40del

Number of alleles fetched