Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.1044122C>ACA415757137AGRNc.2013C>A (p.Ser671=)
c.1698C>A (p.Ser566=)
c.1599C>A (p.Ser533=)
c.1140C>A (p.Ser380=)
c.279C>A (p.Ser93=)
n.2080C>A
n.2084C>A
1g.1044122C=CA1141814759AGRNc.2013C= (p.Ser671=)
c.1698C= (p.Ser566=)
c.1599C= (p.Ser533=)
c.1140C= (p.Ser380=)
c.279C= (p.Ser93=)
n.2080C=
n.2084C=
1g.1044122C>GCA508439AGRNc.2013C>G (p.Ser671=)
c.1698C>G (p.Ser566=)
c.1599C>G (p.Ser533=)
c.1140C>G (p.Ser380=)
c.279C>G (p.Ser93=)
n.2080C>G
n.2084C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1044122C>TCA508438AGRNc.2013C>T (p.Ser671=)
c.1698C>T (p.Ser566=)
c.1599C>T (p.Ser533=)
c.1140C>T (p.Ser380=)
c.279C>T (p.Ser93=)
n.2080C>T
n.2084C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044123G>ACA508440AGRNc.2014G>A (p.Gly672Arg)
c.1699G>A (p.Gly567Arg)
c.1600G>A (p.Gly534Arg)
c.1141G>A (p.Gly381Arg)
c.280G>A (p.Gly94Arg)
n.2081G>A
n.2085G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044123G>CCA337835864AGRNc.2014G>C (p.Gly672Arg)
c.1699G>C (p.Gly567Arg)
c.1600G>C (p.Gly534Arg)
c.1141G>C (p.Gly381Arg)
c.280G>C (p.Gly94Arg)
n.2081G>C
n.2085G>C
 gnomAD v4
1g.1044123G=CA1148774526AGRNc.2014G= (p.Gly672=)
c.1699G= (p.Gly567=)
c.1600G= (p.Gly534=)
c.1141G= (p.Gly381=)
c.280G= (p.Gly94=)
n.2081G=
n.2085G=
1g.1044123G>TCA337835861AGRNc.2014G>T (p.Gly672Ter)
c.1699G>T (p.Gly567Ter)
c.1600G>T (p.Gly534Ter)
c.1141G>T (p.Gly381Ter)
c.280G>T (p.Gly94Ter)
n.2081G>T
n.2085G>T
1g.1044124G>ACA337835867AGRNc.2015G>A (p.Gly672Glu)
c.1700G>A (p.Gly567Glu)
c.1601G>A (p.Gly534Glu)
c.1142G>A (p.Gly381Glu)
c.281G>A (p.Gly94Glu)
n.2082G>A
n.2086G>A
 dbSNP gnomAD v2 gnomAD v4
1g.1044124G>CCA508441AGRNc.2015G>C (p.Gly672Ala)
c.1700G>C (p.Gly567Ala)
c.1601G>C (p.Gly534Ala)
c.1142G>C (p.Gly381Ala)
c.281G>C (p.Gly94Ala)
n.2082G>C
n.2086G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1044124G=CA1148774542AGRNc.2015G= (p.Gly672=)
c.1700G= (p.Gly567=)
c.1601G= (p.Gly534=)
c.1142G= (p.Gly381=)
c.281G= (p.Gly94=)
n.2082G=
n.2086G=
1g.1044124G>TCA337835876AGRNc.2015G>T (p.Gly672Val)
c.1700G>T (p.Gly567Val)
c.1601G>T (p.Gly534Val)
c.1142G>T (p.Gly381Val)
c.281G>T (p.Gly94Val)
n.2082G>T
n.2086G>T
1g.1044125A>CCA415757143AGRNc.2016A>C (p.Gly672=)
c.1701A>C (p.Gly567=)
c.1602A>C (p.Gly534=)
c.1143A>C (p.Gly381=)
c.282A>C (p.Gly94=)
n.2083A>C
n.2087A>C
1g.1044125A>GCA415757144AGRNc.2016A>G (p.Gly672=)
c.1701A>G (p.Gly567=)
c.1602A>G (p.Gly534=)
c.1143A>G (p.Gly381=)
c.282A>G (p.Gly94=)
n.2083A>G
n.2087A>G
1g.1044125A>TCA415757146AGRNc.2016A>T (p.Gly672=)
c.1701A>T (p.Gly567=)
c.1602A>T (p.Gly534=)
c.1143A>T (p.Gly381=)
c.282A>T (p.Gly94=)
n.2083A>T
n.2087A>T
1g.1044126G>ACA337835877AGRNc.2017G>A (p.Gly673Ser)
c.1702G>A (p.Gly568Ser)
c.1603G>A (p.Gly535Ser)
c.1144G>A (p.Gly382Ser)
c.283G>A (p.Gly95Ser)
n.2084G>A
n.2088G>A
 dbSNP gnomAD v3 gnomAD v4
1g.1044126G>CCA337835879AGRNc.2017G>C (p.Gly673Arg)
c.1702G>C (p.Gly568Arg)
c.1603G>C (p.Gly535Arg)
c.1144G>C (p.Gly382Arg)
c.283G>C (p.Gly95Arg)
n.2084G>C
n.2088G>C
1g.1044126G=CA1148774545AGRNc.2017G= (p.Gly673=)
c.1702G= (p.Gly568=)
c.1603G= (p.Gly535=)
c.1144G= (p.Gly382=)
c.283G= (p.Gly95=)
n.2084G=
n.2088G=
1g.1044126G>TCA337835881AGRNc.2017G>T (p.Gly673Cys)
c.1702G>T (p.Gly568Cys)
c.1603G>T (p.Gly535Cys)
c.1144G>T (p.Gly382Cys)
c.283G>T (p.Gly95Cys)
n.2084G>T
n.2088G>T
1g.1044127G>ACA337835882AGRNc.2018G>A (p.Gly673Asp)
c.1703G>A (p.Gly568Asp)
c.1604G>A (p.Gly535Asp)
c.1145G>A (p.Gly382Asp)
c.284G>A (p.Gly95Asp)
n.2085G>A
n.2089G>A
1g.1044127G>CCA337835884AGRNc.2018G>C (p.Gly673Ala)
c.1703G>C (p.Gly568Ala)
c.1604G>C (p.Gly535Ala)
c.1145G>C (p.Gly382Ala)
c.284G>C (p.Gly95Ala)
n.2085G>C
n.2089G>C
1g.1044127G=CA1148774548AGRNc.2018G= (p.Gly673=)
c.1703G= (p.Gly568=)
c.1604G= (p.Gly535=)
c.1145G= (p.Gly382=)
c.284G= (p.Gly95=)
n.2085G=
n.2089G=
1g.1044127G>TCA337835885AGRNc.2018G>T (p.Gly673Val)
c.1703G>T (p.Gly568Val)
c.1604G>T (p.Gly535Val)
c.1145G>T (p.Gly382Val)
c.284G>T (p.Gly95Val)
n.2085G>T
n.2089G>T
 dbSNP gnomAD v2 gnomAD v4
1g.1044128C>ACA415757152AGRNc.2019C>A (p.Gly673=)
c.1704C>A (p.Gly568=)
c.1605C>A (p.Gly535=)
c.1146C>A (p.Gly382=)
c.285C>A (p.Gly95=)
n.2086C>A
n.2090C>A
1g.1044128C=CA1148774552AGRNc.2019C= (p.Gly673=)
c.1704C= (p.Gly568=)
c.1605C= (p.Gly535=)
c.1146C= (p.Gly382=)
c.285C= (p.Gly95=)
n.2086C=
n.2090C=
1g.1044128C>GCA415757151AGRNc.2019C>G (p.Gly673=)
c.1704C>G (p.Gly568=)
c.1605C>G (p.Gly535=)
c.1146C>G (p.Gly382=)
c.285C>G (p.Gly95=)
n.2086C>G
n.2090C>G
1g.1044128C>TCA508442AGRNc.2019C>T (p.Gly673=)
c.1704C>T (p.Gly568=)
c.1605C>T (p.Gly535=)
c.1146C>T (p.Gly382=)
c.285C>T (p.Gly95=)
n.2086C>T
n.2090C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1044129T>ACA337835891AGRNc.2020T>A (p.Ser674Thr)
c.1705T>A (p.Ser569Thr)
c.1606T>A (p.Ser536Thr)
c.1147T>A (p.Ser383Thr)
c.286T>A (p.Ser96Thr)
n.2087T>A
n.2091T>A
1g.1044129T>CCA337835892AGRNc.2020T>C (p.Ser674Pro)
c.1705T>C (p.Ser569Pro)
c.1606T>C (p.Ser536Pro)
c.1147T>C (p.Ser383Pro)
c.286T>C (p.Ser96Pro)
n.2087T>C
n.2091T>C
1g.1044129T>GCA337835894AGRNc.2020T>G (p.Ser674Ala)
c.1705T>G (p.Ser569Ala)
c.1606T>G (p.Ser536Ala)
c.1147T>G (p.Ser383Ala)
c.286T>G (p.Ser96Ala)
n.2087T>G
n.2091T>G
1g.1044130C>ACA337835905AGRNc.2021C>A (p.Ser674Tyr)
c.1706C>A (p.Ser569Tyr)
c.1607C>A (p.Ser536Tyr)
c.1148C>A (p.Ser383Tyr)
c.287C>A (p.Ser96Tyr)
n.2088C>A
n.2092C>A
1g.1044130C>GCA337835898AGRNc.2021C>G (p.Ser674Cys)
c.1706C>G (p.Ser569Cys)
c.1607C>G (p.Ser536Cys)
c.1148C>G (p.Ser383Cys)
c.287C>G (p.Ser96Cys)
n.2088C>G
n.2092C>G
1g.1044130C>TCA337835896AGRNc.2021C>T (p.Ser674Phe)
c.1706C>T (p.Ser569Phe)
c.1607C>T (p.Ser536Phe)
c.1148C>T (p.Ser383Phe)
c.287C>T (p.Ser96Phe)
n.2088C>T
n.2092C>T
1g.1044131T>ACA415757155AGRNc.2022T>A (p.Ser674=)
c.1707T>A (p.Ser569=)
c.1608T>A (p.Ser536=)
c.1149T>A (p.Ser383=)
c.288T>A (p.Ser96=)
n.2089T>A
n.2093T>A
1g.1044131T>CCA415757156AGRNc.2022T>C (p.Ser674=)
c.1707T>C (p.Ser569=)
c.1608T>C (p.Ser536=)
c.1149T>C (p.Ser383=)
c.288T>C (p.Ser96=)
n.2089T>C
n.2093T>C
1g.1044131T>GCA415757158AGRNc.2022T>G (p.Ser674=)
c.1707T>G (p.Ser569=)
c.1608T>G (p.Ser536=)
c.1149T>G (p.Ser383=)
c.288T>G (p.Ser96=)
n.2089T>G
n.2093T>G
1g.1044132G>ACA337835906AGRNc.2023G>A (p.Gly675Ser)
c.1708G>A (p.Gly570Ser)
c.1609G>A (p.Gly537Ser)
c.1150G>A (p.Gly384Ser)
c.289G>A (p.Gly97Ser)
n.2090G>A
n.2094G>A
1g.1044132G>CCA337835907AGRNc.2023G>C (p.Gly675Arg)
c.1708G>C (p.Gly570Arg)
c.1609G>C (p.Gly537Arg)
c.1150G>C (p.Gly384Arg)
c.289G>C (p.Gly97Arg)
n.2090G>C
n.2094G>C
1g.1044132G>TCA337835908AGRNc.2023G>T (p.Gly675Cys)
c.1708G>T (p.Gly570Cys)
c.1609G>T (p.Gly537Cys)
c.1150G>T (p.Gly384Cys)
c.289G>T (p.Gly97Cys)
n.2090G>T
n.2094G>T
1g.1044133G>ACA508443AGRNc.2024G>A (p.Gly675Asp)
c.1709G>A (p.Gly570Asp)
c.1610G>A (p.Gly537Asp)
c.1151G>A (p.Gly384Asp)
c.290G>A (p.Gly97Asp)
n.2091G>A
n.2095G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1044133G>CCA337835910AGRNc.2024G>C (p.Gly675Ala)
c.1709G>C (p.Gly570Ala)
c.1610G>C (p.Gly537Ala)
c.1151G>C (p.Gly384Ala)
c.290G>C (p.Gly97Ala)
n.2091G>C
n.2095G>C
1g.1044133G=CA1148774561AGRNc.2024G= (p.Gly675=)
c.1709G= (p.Gly570=)
c.1610G= (p.Gly537=)
c.1151G= (p.Gly384=)
c.290G= (p.Gly97=)
n.2091G=
n.2095G=
1g.1044133G>TCA337835911AGRNc.2024G>T (p.Gly675Val)
c.1709G>T (p.Gly570Val)
c.1610G>T (p.Gly537Val)
c.1151G>T (p.Gly384Val)
c.290G>T (p.Gly97Val)
n.2091G>T
n.2095G>T
 gnomAD v4
1g.1044134C>ACA415757160AGRNc.2025C>A (p.Gly675=)
c.1710C>A (p.Gly570=)
c.1611C>A (p.Gly537=)
c.1152C>A (p.Gly384=)
c.291C>A (p.Gly97=)
n.2092C>A
n.2096C>A
1g.1044134C=CA1140481393AGRNc.2025C= (p.Gly675=)
c.1710C= (p.Gly570=)
c.1611C= (p.Gly537=)
c.1152C= (p.Gly384=)
c.291C= (p.Gly97=)
n.2092C=
n.2096C=
1g.1044134C>GCA151614AGRNc.2025C>G (p.Gly675=)
c.1710C>G (p.Gly570=)
c.1611C>G (p.Gly537=)
c.1152C>G (p.Gly384=)
c.291C>G (p.Gly97=)
n.2092C>G
n.2096C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044134C>TCA415757161AGRNc.2025C>T (p.Gly675=)
c.1710C>T (p.Gly570=)
c.1611C>T (p.Gly537=)
c.1152C>T (p.Gly384=)
c.291C>T (p.Gly97=)
n.2092C>T
n.2096C>T
 gnomAD v4 COSMIC
1g.1044135T>ACA337835912AGRNc.2026T>A (p.Ser676Thr)
c.1711T>A (p.Ser571Thr)
c.1612T>A (p.Ser538Thr)
c.1153T>A (p.Ser385Thr)
c.292T>A (p.Ser98Thr)
n.2093T>A
n.2097T>A
1g.1044135T>CCA337835914AGRNc.2026T>C (p.Ser676Pro)
c.1711T>C (p.Ser571Pro)
c.1612T>C (p.Ser538Pro)
c.1153T>C (p.Ser385Pro)
c.292T>C (p.Ser98Pro)
n.2093T>C
n.2097T>C
 dbSNP gnomAD v2 gnomAD v4
1g.1044135T>GCA337835915AGRNc.2026T>G (p.Ser676Ala)
c.1711T>G (p.Ser571Ala)
c.1612T>G (p.Ser538Ala)
c.1153T>G (p.Ser385Ala)
c.292T>G (p.Ser98Ala)
n.2093T>G
n.2097T>G
1g.1044135T=CA1148774582AGRNc.2026T= (p.Ser676=)
c.1711T= (p.Ser571=)
c.1612T= (p.Ser538=)
c.1153T= (p.Ser385=)
c.292T= (p.Ser98=)
n.2093T=
n.2097T=
1g.1044136C>ACA337835916AGRNc.2027C>A (p.Ser676Tyr)
c.1712C>A (p.Ser571Tyr)
c.1613C>A (p.Ser538Tyr)
c.1154C>A (p.Ser385Tyr)
c.293C>A (p.Ser98Tyr)
n.2094C>A
n.2098C>A
 gnomAD v4
1g.1044136C=CA1148774584AGRNc.2027C= (p.Ser676=)
c.1712C= (p.Ser571=)
c.1613C= (p.Ser538=)
c.1154C= (p.Ser385=)
c.293C= (p.Ser98=)
n.2094C=
n.2098C=
1g.1044136C>GCA508444AGRNc.2027C>G (p.Ser676Cys)
c.1712C>G (p.Ser571Cys)
c.1613C>G (p.Ser538Cys)
c.1154C>G (p.Ser385Cys)
c.293C>G (p.Ser98Cys)
n.2094C>G
n.2098C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1044136C>TCA337835918AGRNc.2027C>T (p.Ser676Phe)
c.1712C>T (p.Ser571Phe)
c.1613C>T (p.Ser538Phe)
c.1154C>T (p.Ser385Phe)
c.293C>T (p.Ser98Phe)
n.2094C>T
n.2098C>T
1g.1044137T>ACA508445AGRNc.2028T>A (p.Ser676=)
c.1713T>A (p.Ser571=)
c.1614T>A (p.Ser538=)
c.1155T>A (p.Ser385=)
c.294T>A (p.Ser98=)
n.2095T>A
n.2099T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044137T>CCA415757169AGRNc.2028T>C (p.Ser676=)
c.1713T>C (p.Ser571=)
c.1614T>C (p.Ser538=)
c.1155T>C (p.Ser385=)
c.294T>C (p.Ser98=)
n.2095T>C
n.2099T>C
1g.1044137T>GCA415757167AGRNc.2028T>G (p.Ser676=)
c.1713T>G (p.Ser571=)
c.1614T>G (p.Ser538=)
c.1155T>G (p.Ser385=)
c.294T>G (p.Ser98=)
n.2095T>G
n.2099T>G
1g.1044137T=CA1142008312AGRNc.2028T= (p.Ser676=)
c.1713T= (p.Ser571=)
c.1614T= (p.Ser538=)
c.1155T= (p.Ser385=)
c.294T= (p.Ser98=)
n.2095T=
n.2099T=
1g.1044138G>ACA337835925AGRNc.2029G>A (p.Gly677Arg)
c.1714G>A (p.Gly572Arg)
c.1615G>A (p.Gly539Arg)
c.1156G>A (p.Gly386Arg)
c.295G>A (p.Gly99Arg)
n.2096G>A
n.2100G>A
1g.1044138G>CCA337835926AGRNc.2029G>C (p.Gly677Arg)
c.1714G>C (p.Gly572Arg)
c.1615G>C (p.Gly539Arg)
c.1156G>C (p.Gly386Arg)
c.295G>C (p.Gly99Arg)
n.2096G>C
n.2100G>C
1g.1044138G>TCA337835923AGRNc.2029G>T (p.Gly677Trp)
c.1714G>T (p.Gly572Trp)
c.1615G>T (p.Gly539Trp)
c.1156G>T (p.Gly386Trp)
c.295G>T (p.Gly99Trp)
n.2096G>T
n.2100G>T
1g.1044139G>ACA337835928AGRNc.2030G>A (p.Gly677Glu)
c.1715G>A (p.Gly572Glu)
c.1616G>A (p.Gly539Glu)
c.1157G>A (p.Gly386Glu)
c.296G>A (p.Gly99Glu)
n.2097G>A
n.2101G>A
1g.1044139G>CCA337835929AGRNc.2030G>C (p.Gly677Ala)
c.1715G>C (p.Gly572Ala)
c.1616G>C (p.Gly539Ala)
c.1157G>C (p.Gly386Ala)
c.296G>C (p.Gly99Ala)
n.2097G>C
n.2101G>C
1g.1044139G>TCA337835930AGRNc.2030G>T (p.Gly677Val)
c.1715G>T (p.Gly572Val)
c.1616G>T (p.Gly539Val)
c.1157G>T (p.Gly386Val)
c.296G>T (p.Gly99Val)
n.2097G>T
n.2101G>T
1g.1044140G>ACA415757170AGRNc.2031G>A (p.Gly677=)
c.1716G>A (p.Gly572=)
c.1617G>A (p.Gly539=)
c.1158G>A (p.Gly386=)
c.297G>A (p.Gly99=)
n.2098G>A
n.2102G>A
 gnomAD v4
1g.1044140G>CCA415757171AGRNc.2031G>C (p.Gly677=)
c.1716G>C (p.Gly572=)
c.1617G>C (p.Gly539=)
c.1158G>C (p.Gly386=)
c.297G>C (p.Gly99=)
n.2098G>C
n.2102G>C
1g.1044140G>TCA415757172AGRNc.2031G>T (p.Gly677=)
c.1716G>T (p.Gly572=)
c.1617G>T (p.Gly539=)
c.1158G>T (p.Gly386=)
c.297G>T (p.Gly99=)
n.2098G>T
n.2102G>T
1g.1044141G>ACA508446AGRNc.2032G>A (p.Glu678Lys)
c.1717G>A (p.Glu573Lys)
c.1618G>A (p.Glu540Lys)
c.1159G>A (p.Glu387Lys)
c.298G>A (p.Glu100Lys)
n.2099G>A
n.2103G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044141G>CCA337835931AGRNc.2032G>C (p.Glu678Gln)
c.1717G>C (p.Glu573Gln)
c.1618G>C (p.Glu540Gln)
c.1159G>C (p.Glu387Gln)
c.298G>C (p.Glu100Gln)
n.2099G>C
n.2103G>C
1g.1044141G=CA1148774591AGRNc.2032G= (p.Glu678=)
c.1717G= (p.Glu573=)
c.1618G= (p.Glu540=)
c.1159G= (p.Glu387=)
c.298G= (p.Glu100=)
n.2099G=
n.2103G=
1g.1044141G>TCA337835939AGRNc.2032G>T (p.Glu678Ter)
c.1717G>T (p.Glu573Ter)
c.1618G>T (p.Glu540Ter)
c.1159G>T (p.Glu387Ter)
c.298G>T (p.Glu100Ter)
n.2099G>T
n.2103G>T
1g.1044142A>CCA337835940AGRNc.2033A>C (p.Glu678Ala)
c.1718A>C (p.Glu573Ala)
c.1619A>C (p.Glu540Ala)
c.1160A>C (p.Glu387Ala)
c.299A>C (p.Glu100Ala)
n.2100A>C
n.2104A>C
1g.1044142A>GCA337835941AGRNc.2033A>G (p.Glu678Gly)
c.1718A>G (p.Glu573Gly)
c.1619A>G (p.Glu540Gly)
c.1160A>G (p.Glu387Gly)
c.299A>G (p.Glu100Gly)
n.2100A>G
n.2104A>G
1g.1044142A>TCA337835942AGRNc.2033A>T (p.Glu678Val)
c.1718A>T (p.Glu573Val)
c.1619A>T (p.Glu540Val)
c.1160A>T (p.Glu387Val)
c.299A>T (p.Glu100Val)
n.2100A>T
n.2104A>T
1g.1044143G>ACA415757174AGRNc.2034G>A (p.Glu678=)
c.1719G>A (p.Glu573=)
c.1620G>A (p.Glu540=)
c.1161G>A (p.Glu387=)
c.300G>A (p.Glu100=)
n.2101G>A
n.2105G>A
1g.1044143G>CCA337835943AGRNc.2034G>C (p.Glu678Asp)
c.1719G>C (p.Glu573Asp)
c.1620G>C (p.Glu540Asp)
c.1161G>C (p.Glu387Asp)
c.300G>C (p.Glu100Asp)
n.2101G>C
n.2105G>C
 gnomAD v4
1g.1044143G>TCA337835944AGRNc.2034G>T (p.Glu678Asp)
c.1719G>T (p.Glu573Asp)
c.1620G>T (p.Glu540Asp)
c.1161G>T (p.Glu387Asp)
c.300G>T (p.Glu100Asp)
n.2101G>T
n.2105G>T
1g.1044144G>ACA337835948AGRNc.2035G>A (p.Asp679Asn)
c.1720G>A (p.Asp574Asn)
c.1621G>A (p.Asp541Asn)
c.1162G>A (p.Asp388Asn)
c.301G>A (p.Asp101Asn)
n.2102G>A
n.2106G>A
 dbSNP gnomAD v3 gnomAD v4
1g.1044144G>CCA337835947AGRNc.2035G>C (p.Asp679His)
c.1720G>C (p.Asp574His)
c.1621G>C (p.Asp541His)
c.1162G>C (p.Asp388His)
c.301G>C (p.Asp101His)
n.2102G>C
n.2106G>C
1g.1044144G=CA1148774595AGRNc.2035G= (p.Asp679=)
c.1720G= (p.Asp574=)
c.1621G= (p.Asp541=)
c.1162G= (p.Asp388=)
c.301G= (p.Asp101=)
n.2102G=
n.2106G=
1g.1044144G>TCA508447AGRNc.2035G>T (p.Asp679Tyr)
c.1720G>T (p.Asp574Tyr)
c.1621G>T (p.Asp541Tyr)
c.1162G>T (p.Asp388Tyr)
c.301G>T (p.Asp101Tyr)
n.2102G>T
n.2106G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1044145A=CA1148774603AGRNc.2036A= (p.Asp679=)
c.1721A= (p.Asp574=)
c.1622A= (p.Asp541=)
c.1163A= (p.Asp388=)
c.302A= (p.Asp101=)
n.2103A=
n.2107A=
1g.1044145A>CCA337835950AGRNc.2036A>C (p.Asp679Ala)
c.1721A>C (p.Asp574Ala)
c.1622A>C (p.Asp541Ala)
c.1163A>C (p.Asp388Ala)
c.302A>C (p.Asp101Ala)
n.2103A>C
n.2107A>C
1g.1044145A>GCA337835951AGRNc.2036A>G (p.Asp679Gly)
c.1721A>G (p.Asp574Gly)
c.1622A>G (p.Asp541Gly)
c.1163A>G (p.Asp388Gly)
c.302A>G (p.Asp101Gly)
n.2103A>G
n.2107A>G
 dbSNP gnomAD v2 gnomAD v4
1g.1044145A>TCA337835952AGRNc.2036A>T (p.Asp679Val)
c.1721A>T (p.Asp574Val)
c.1622A>T (p.Asp541Val)
c.1163A>T (p.Asp388Val)
c.302A>T (p.Asp101Val)
n.2103A>T
n.2107A>T
1g.1044146C>ACA337835953AGRNc.2037C>A (p.Asp679Glu)
c.1722C>A (p.Asp574Glu)
c.1623C>A (p.Asp541Glu)
c.1164C>A (p.Asp388Glu)
c.303C>A (p.Asp101Glu)
n.2104C>A
n.2108C>A
1g.1044146C=CA1148774610AGRNc.2037C= (p.Asp679=)
c.1722C= (p.Asp574=)
c.1623C= (p.Asp541=)
c.1164C= (p.Asp388=)
c.303C= (p.Asp101=)
n.2104C=
n.2108C=
1g.1044146C>GCA337835954AGRNc.2037C>G (p.Asp679Glu)
c.1722C>G (p.Asp574Glu)
c.1623C>G (p.Asp541Glu)
c.1164C>G (p.Asp388Glu)
c.303C>G (p.Asp101Glu)
n.2104C>G
n.2108C>G
1g.1044146C>TCA508448AGRNc.2037C>T (p.Asp679=)
c.1722C>T (p.Asp574=)
c.1623C>T (p.Asp541=)
c.1164C>T (p.Asp388=)
c.303C>T (p.Asp101=)
n.2104C>T
n.2108C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044147G>ACA508449AGRNc.2038G>A (p.Gly680Ser)
c.1723G>A (p.Gly575Ser)
c.1624G>A (p.Gly542Ser)
c.1165G>A (p.Gly389Ser)
c.304G>A (p.Gly102Ser)
n.2105G>A
n.2109G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044147G>CCA337835955AGRNc.2038G>C (p.Gly680Arg)
c.1723G>C (p.Gly575Arg)
c.1624G>C (p.Gly542Arg)
c.1165G>C (p.Gly389Arg)
c.304G>C (p.Gly102Arg)
n.2105G>C
n.2109G>C
1g.1044147G=CA1141713554AGRNc.2038G= (p.Gly680=)
c.1723G= (p.Gly575=)
c.1624G= (p.Gly542=)
c.1165G= (p.Gly389=)
c.304G= (p.Gly102=)
n.2105G=
n.2109G=
1g.1044147G>TCA337835956AGRNc.2038G>T (p.Gly680Cys)
c.1723G>T (p.Gly575Cys)
c.1624G>T (p.Gly542Cys)
c.1165G>T (p.Gly389Cys)
c.304G>T (p.Gly102Cys)
n.2105G>T
n.2109G>T
 gnomAD v4
1g.1044148G>ACA16754904AGRNc.2039G>A (p.Gly680Asp)
c.1724G>A (p.Gly575Asp)
c.1625G>A (p.Gly542Asp)
c.1166G>A (p.Gly389Asp)
c.305G>A (p.Gly102Asp)
n.2106G>A
n.2110G>A
 dbSNP gnomAD v4
1g.1044148G>CCA337835957AGRNc.2039G>C (p.Gly680Ala)
c.1724G>C (p.Gly575Ala)
c.1625G>C (p.Gly542Ala)
c.1166G>C (p.Gly389Ala)
c.305G>C (p.Gly102Ala)
n.2106G>C
n.2110G>C
1g.1044148G=CA1148774619AGRNc.2039G= (p.Gly680=)
c.1724G= (p.Gly575=)
c.1625G= (p.Gly542=)
c.1166G= (p.Gly389=)
c.305G= (p.Gly102=)
n.2106G=
n.2110G=
1g.1044148G>TCA337835958AGRNc.2039G>T (p.Gly680Val)
c.1724G>T (p.Gly575Val)
c.1625G>T (p.Gly542Val)
c.1166G>T (p.Gly389Val)
c.305G>T (p.Gly102Val)
n.2106G>T
n.2110G>T
 dbSNP gnomAD v3 gnomAD v4
1g.1044149T>ACA415757185AGRNc.2040T>A (p.Gly680=)
c.1725T>A (p.Gly575=)
c.1626T>A (p.Gly542=)
c.1167T>A (p.Gly389=)
c.306T>A (p.Gly102=)
n.2107T>A
n.2111T>A
1g.1044149T>CCA415757186AGRNc.2040T>C (p.Gly680=)
c.1725T>C (p.Gly575=)
c.1626T>C (p.Gly542=)
c.1167T>C (p.Gly389=)
c.306T>C (p.Gly102=)
n.2107T>C
n.2111T>C
1g.1044149T>GCA415757187AGRNc.2040T>G (p.Gly680=)
c.1725T>G (p.Gly575=)
c.1626T>G (p.Gly542=)
c.1167T>G (p.Gly389=)
c.306T>G (p.Gly102=)
n.2107T>G
n.2111T>G
1g.1044150G>ACA337835964AGRNc.2041G>A (p.Asp681Asn)
c.1726G>A (p.Asp576Asn)
c.1627G>A (p.Asp543Asn)
c.1168G>A (p.Asp390Asn)
c.307G>A (p.Asp103Asn)
n.2108G>A
n.2112G>A
1g.1044150G>CCA337835960AGRNc.2041G>C (p.Asp681His)
c.1726G>C (p.Asp576His)
c.1627G>C (p.Asp543His)
c.1168G>C (p.Asp390His)
c.307G>C (p.Asp103His)
n.2108G>C
n.2112G>C
1g.1044150G>TCA337835959AGRNc.2041G>T (p.Asp681Tyr)
c.1726G>T (p.Asp576Tyr)
c.1627G>T (p.Asp543Tyr)
c.1168G>T (p.Asp390Tyr)
c.307G>T (p.Asp103Tyr)
n.2108G>T
n.2112G>T
1g.1044151A=CA1148774633AGRNc.2042A= (p.Asp681=)
c.1727A= (p.Asp576=)
c.1628A= (p.Asp543=)
c.1169A= (p.Asp390=)
c.308A= (p.Asp103=)
n.2109A=
n.2113A=
1g.1044151A>CCA337835966AGRNc.2042A>C (p.Asp681Ala)
c.1727A>C (p.Asp576Ala)
c.1628A>C (p.Asp543Ala)
c.1169A>C (p.Asp390Ala)
c.308A>C (p.Asp103Ala)
n.2109A>C
n.2113A>C
1g.1044151A>GCA337835972AGRNc.2042A>G (p.Asp681Gly)
c.1727A>G (p.Asp576Gly)
c.1628A>G (p.Asp543Gly)
c.1169A>G (p.Asp390Gly)
c.308A>G (p.Asp103Gly)
n.2109A>G
n.2113A>G
 ClinVar dbSNP
1g.1044151A>TCA337835971AGRNc.2042A>T (p.Asp681Val)
c.1727A>T (p.Asp576Val)
c.1628A>T (p.Asp543Val)
c.1169A>T (p.Asp390Val)
c.308A>T (p.Asp103Val)
n.2109A>T
n.2113A>T
1g.1044152C>ACA337835973AGRNc.2043C>A (p.Asp681Glu)
c.1728C>A (p.Asp576Glu)
c.1629C>A (p.Asp543Glu)
c.1170C>A (p.Asp390Glu)
c.309C>A (p.Asp103Glu)
n.2110C>A
n.2114C>A
1g.1044152C>GCA337835974AGRNc.2043C>G (p.Asp681Glu)
c.1728C>G (p.Asp576Glu)
c.1629C>G (p.Asp543Glu)
c.1170C>G (p.Asp390Glu)
c.309C>G (p.Asp103Glu)
n.2110C>G
n.2114C>G
1g.1044152C>TCA415757192AGRNc.2043C>T (p.Asp681=)
c.1728C>T (p.Asp576=)
c.1629C>T (p.Asp543=)
c.1170C>T (p.Asp390=)
c.309C>T (p.Asp103=)
n.2110C>T
n.2114C>T
1g.1044153T>ACA337835976AGRNc.2044T>A (p.Cys682Ser)
c.1729T>A (p.Cys577Ser)
c.1630T>A (p.Cys544Ser)
c.1171T>A (p.Cys391Ser)
c.310T>A (p.Cys104Ser)
n.2111T>A
n.2115T>A
1g.1044153T>CCA337835977AGRNc.2044T>C (p.Cys682Arg)
c.1729T>C (p.Cys577Arg)
c.1630T>C (p.Cys544Arg)
c.1171T>C (p.Cys391Arg)
c.310T>C (p.Cys104Arg)
n.2111T>C
n.2115T>C
 dbSNP gnomAD v4
1g.1044153T>GCA337835979AGRNc.2044T>G (p.Cys682Gly)
c.1729T>G (p.Cys577Gly)
c.1630T>G (p.Cys544Gly)
c.1171T>G (p.Cys391Gly)
c.310T>G (p.Cys104Gly)
n.2111T>G
n.2115T>G
 dbSNP gnomAD v3 gnomAD v4
1g.1044153T=CA1148774637AGRNc.2044T= (p.Cys682=)
c.1729T= (p.Cys577=)
c.1630T= (p.Cys544=)
c.1171T= (p.Cys391=)
c.310T= (p.Cys104=)
n.2111T=
n.2115T=
1g.1044154G>ACA337835980AGRNc.2045G>A (p.Cys682Tyr)
c.1730G>A (p.Cys577Tyr)
c.1631G>A (p.Cys544Tyr)
c.1172G>A (p.Cys391Tyr)
c.311G>A (p.Cys104Tyr)
n.2112G>A
n.2116G>A
 dbSNP gnomAD v2 gnomAD v4
1g.1044154G>CCA337835981AGRNc.2045G>C (p.Cys682Ser)
c.1730G>C (p.Cys577Ser)
c.1631G>C (p.Cys544Ser)
c.1172G>C (p.Cys391Ser)
c.311G>C (p.Cys104Ser)
n.2112G>C
n.2116G>C
1g.1044154G=CA1148774641AGRNc.2045G= (p.Cys682=)
c.1730G= (p.Cys577=)
c.1631G= (p.Cys544=)
c.1172G= (p.Cys391=)
c.311G= (p.Cys104=)
n.2112G=
n.2116G=
1g.1044154G>TCA337835982AGRNc.2045G>T (p.Cys682Phe)
c.1730G>T (p.Cys577Phe)
c.1631G>T (p.Cys544Phe)
c.1172G>T (p.Cys391Phe)
c.311G>T (p.Cys104Phe)
n.2112G>T
n.2116G>T
1g.1044155T>ACA337835983AGRNc.2046T>A (p.Cys682Ter)
c.1731T>A (p.Cys577Ter)
c.1632T>A (p.Cys544Ter)
c.1173T>A (p.Cys391Ter)
c.312T>A (p.Cys104Ter)
n.2113T>A
n.2117T>A
1g.1044155T>CCA415757193AGRNc.2046T>C (p.Cys682=)
c.1731T>C (p.Cys577=)
c.1632T>C (p.Cys544=)
c.1173T>C (p.Cys391=)
c.312T>C (p.Cys104=)
n.2113T>C
n.2117T>C
1g.1044155T>GCA337835984AGRNc.2046T>G (p.Cys682Trp)
c.1731T>G (p.Cys577Trp)
c.1632T>G (p.Cys544Trp)
c.1173T>G (p.Cys391Trp)
c.312T>G (p.Cys104Trp)
n.2113T>G
n.2117T>G
1g.1044156G>ACA337835985AGRNc.2047G>A (p.Glu683Lys)
c.1732G>A (p.Glu578Lys)
c.1633G>A (p.Glu545Lys)
c.1174G>A (p.Glu392Lys)
c.313G>A (p.Glu105Lys)
n.2114G>A
n.2118G>A
 gnomAD v4
1g.1044156G>CCA337835986AGRNc.2047G>C (p.Glu683Gln)
c.1732G>C (p.Glu578Gln)
c.1633G>C (p.Glu545Gln)
c.1174G>C (p.Glu392Gln)
c.313G>C (p.Glu105Gln)
n.2114G>C
n.2118G>C
1g.1044156G>TCA337835987AGRNc.2047G>T (p.Glu683Ter)
c.1732G>T (p.Glu578Ter)
c.1633G>T (p.Glu545Ter)
c.1174G>T (p.Glu392Ter)
c.313G>T (p.Glu105Ter)
n.2114G>T
n.2118G>T
1g.1044157A=CA1148774655AGRNc.2048A= (p.Glu683=)
c.1733A= (p.Glu578=)
c.1634A= (p.Glu545=)
c.1175A= (p.Glu392=)
c.314A= (p.Glu105=)
n.2115A=
n.2119A=
1g.1044157A>CCA337835990AGRNc.2048A>C (p.Glu683Ala)
c.1733A>C (p.Glu578Ala)
c.1634A>C (p.Glu545Ala)
c.1175A>C (p.Glu392Ala)
c.314A>C (p.Glu105Ala)
n.2115A>C
n.2119A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1044157A>GCA508450AGRNc.2048A>G (p.Glu683Gly)
c.1733A>G (p.Glu578Gly)
c.1634A>G (p.Glu545Gly)
c.1175A>G (p.Glu392Gly)
c.314A>G (p.Glu105Gly)
n.2115A>G
n.2119A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044157A>TCA337835992AGRNc.2048A>T (p.Glu683Val)
c.1733A>T (p.Glu578Val)
c.1634A>T (p.Glu545Val)
c.1175A>T (p.Glu392Val)
c.314A>T (p.Glu105Val)
n.2115A>T
n.2119A>T
1g.1044158G>ACA415757197AGRNc.2049G>A (p.Glu683=)
c.1734G>A (p.Glu578=)
c.1635G>A (p.Glu545=)
c.1176G>A (p.Glu392=)
c.315G>A (p.Glu105=)
n.2116G>A
n.2120G>A
1g.1044158G>CCA337835996AGRNc.2049G>C (p.Glu683Asp)
c.1734G>C (p.Glu578Asp)
c.1635G>C (p.Glu545Asp)
c.1176G>C (p.Glu392Asp)
c.315G>C (p.Glu105Asp)
n.2116G>C
n.2120G>C
 COSMIC
1g.1044158G>TCA337835998AGRNc.2049G>T (p.Glu683Asp)
c.1734G>T (p.Glu578Asp)
c.1635G>T (p.Glu545Asp)
c.1176G>T (p.Glu392Asp)
c.315G>T (p.Glu105Asp)
n.2116G>T
n.2120G>T
1g.1044159C>ACA337835999AGRNc.2050C>A (p.Gln684Lys)
c.1735C>A (p.Gln579Lys)
c.1636C>A (p.Gln546Lys)
c.1177C>A (p.Gln393Lys)
c.316C>A (p.Gln106Lys)
n.2117C>A
n.2121C>A
1g.1044159C>GCA337836000AGRNc.2050C>G (p.Gln684Glu)
c.1735C>G (p.Gln579Glu)
c.1636C>G (p.Gln546Glu)
c.1177C>G (p.Gln393Glu)
c.316C>G (p.Gln106Glu)
n.2117C>G
n.2121C>G
1g.1044159C>TCA337836001AGRNc.2050C>T (p.Gln684Ter)
c.1735C>T (p.Gln579Ter)
c.1636C>T (p.Gln546Ter)
c.1177C>T (p.Gln393Ter)
c.316C>T (p.Gln106Ter)
n.2117C>T
n.2121C>T
1g.1044160A>CCA337836002AGRNc.2051A>C (p.Gln684Pro)
c.1736A>C (p.Gln579Pro)
c.1637A>C (p.Gln546Pro)
c.1178A>C (p.Gln393Pro)
c.317A>C (p.Gln106Pro)
n.2118A>C
n.2122A>C
1g.1044160A>GCA337836003AGRNc.2051A>G (p.Gln684Arg)
c.1736A>G (p.Gln579Arg)
c.1637A>G (p.Gln546Arg)
c.1178A>G (p.Gln393Arg)
c.317A>G (p.Gln106Arg)
n.2118A>G
n.2122A>G
1g.1044160A>TCA337836004AGRNc.2051A>T (p.Gln684Leu)
c.1736A>T (p.Gln579Leu)
c.1637A>T (p.Gln546Leu)
c.1178A>T (p.Gln393Leu)
c.317A>T (p.Gln106Leu)
n.2118A>T
n.2122A>T
1g.1044161G>ACA415757202AGRNc.2052G>A (p.Gln684=)
c.1737G>A (p.Gln579=)
c.1638G>A (p.Gln546=)
c.1179G>A (p.Gln393=)
c.318G>A (p.Gln106=)
n.2119G>A
n.2123G>A
1g.1044161G>CCA337836005AGRNc.2052G>C (p.Gln684His)
c.1737G>C (p.Gln579His)
c.1638G>C (p.Gln546His)
c.1179G>C (p.Gln393His)
c.318G>C (p.Gln106His)
n.2119G>C
n.2123G>C
1g.1044161G>TCA337836006AGRNc.2052G>T (p.Gln684His)
c.1737G>T (p.Gln579His)
c.1638G>T (p.Gln546His)
c.1179G>T (p.Gln393His)
c.318G>T (p.Gln106His)
n.2119G>T
n.2123G>T
1g.1044162G>ACA337836008AGRNc.2053G>A (p.Glu685Lys)
c.1738G>A (p.Glu580Lys)
c.1639G>A (p.Glu547Lys)
c.1180G>A (p.Glu394Lys)
c.319G>A (p.Glu107Lys)
n.2120G>A
n.2124G>A
1g.1044162G>CCA16754908AGRNc.2053G>C (p.Glu685Gln)
c.1738G>C (p.Glu580Gln)
c.1639G>C (p.Glu547Gln)
c.1180G>C (p.Glu394Gln)
c.319G>C (p.Glu107Gln)
n.2120G>C
n.2124G>C
 dbSNP
1g.1044162G=CA1148774683AGRNc.2053G= (p.Glu685=)
c.1738G= (p.Glu580=)
c.1639G= (p.Glu547=)
c.1180G= (p.Glu394=)
c.319G= (p.Glu107=)
n.2120G=
n.2124G=
1g.1044162G>TCA337836007AGRNc.2053G>T (p.Glu685Ter)
c.1738G>T (p.Glu580Ter)
c.1639G>T (p.Glu547Ter)
c.1180G>T (p.Glu394Ter)
c.319G>T (p.Glu107Ter)
n.2120G>T
n.2124G>T
1g.1044163A=CA1148774689AGRNc.2054A= (p.Glu685=)
c.1739A= (p.Glu580=)
c.1640A= (p.Glu547=)
c.1181A= (p.Glu394=)
c.320A= (p.Glu107=)
n.2121A=
n.2125A=
1g.1044163A>CCA337836012AGRNc.2054A>C (p.Glu685Ala)
c.1739A>C (p.Glu580Ala)
c.1640A>C (p.Glu547Ala)
c.1181A>C (p.Glu394Ala)
c.320A>C (p.Glu107Ala)
n.2121A>C
n.2125A>C
1g.1044163A>GCA337836009AGRNc.2054A>G (p.Glu685Gly)
c.1739A>G (p.Glu580Gly)
c.1640A>G (p.Glu547Gly)
c.1181A>G (p.Glu394Gly)
c.320A>G (p.Glu107Gly)
n.2121A>G
n.2125A>G
 dbSNP
1g.1044163A>TCA337836011AGRNc.2054A>T (p.Glu685Val)
c.1739A>T (p.Glu580Val)
c.1640A>T (p.Glu547Val)
c.1181A>T (p.Glu394Val)
c.320A>T (p.Glu107Val)
n.2121A>T
n.2125A>T
1g.1044164G>ACA415757207AGRNc.2055G>A (p.Glu685=)
c.1740G>A (p.Glu580=)
c.1641G>A (p.Glu547=)
c.1182G>A (p.Glu394=)
c.321G>A (p.Glu107=)
n.2122G>A
n.2126G>A
 gnomAD v4
1g.1044164G>CCA16754910AGRNc.2055G>C (p.Glu685Asp)
c.1740G>C (p.Glu580Asp)
c.1641G>C (p.Glu547Asp)
c.1182G>C (p.Glu394Asp)
c.321G>C (p.Glu107Asp)
n.2122G>C
n.2126G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1044164G=CA1148775019AGRNc.2055G= (p.Glu685=)
c.1740G= (p.Glu580=)
c.1641G= (p.Glu547=)
c.1182G= (p.Glu394=)
c.321G= (p.Glu107=)
n.2122G=
n.2126G=
1g.1044164G>TCA337836014AGRNc.2055G>T (p.Glu685Asp)
c.1740G>T (p.Glu580Asp)
c.1641G>T (p.Glu547Asp)
c.1182G>T (p.Glu394Asp)
c.321G>T (p.Glu107Asp)
n.2122G>T
n.2126G>T
1g.1044165C>ACA508451AGRNc.2056C>A (p.Leu686Met)
c.1741C>A (p.Leu581Met)
c.1642C>A (p.Leu548Met)
c.1183C>A (p.Leu395Met)
c.322C>A (p.Leu108Met)
n.2123C>A
n.2127C>A
 dbSNP ExAC gnomAD v4
1g.1044165C=CA1141886214AGRNc.2056C= (p.Leu686=)
c.1741C= (p.Leu581=)
c.1642C= (p.Leu548=)
c.1183C= (p.Leu395=)
c.322C= (p.Leu108=)
n.2123C=
n.2127C=
1g.1044165C>GCA337836015AGRNc.2056C>G (p.Leu686Val)
c.1741C>G (p.Leu581Val)
c.1642C>G (p.Leu548Val)
c.1183C>G (p.Leu395Val)
c.322C>G (p.Leu108Val)
n.2123C>G
n.2127C>G
1g.1044165C>TCA415757208AGRNc.2056C>T (p.Leu686=)
c.1741C>T (p.Leu581=)
c.1642C>T (p.Leu548=)
c.1183C>T (p.Leu395=)
c.322C>T (p.Leu108=)
n.2123C>T
n.2127C>T
1g.1044166T>ACA337836016AGRNc.2057T>A (p.Leu686Gln)
c.1742T>A (p.Leu581Gln)
c.1643T>A (p.Leu548Gln)
c.1184T>A (p.Leu395Gln)
c.323T>A (p.Leu108Gln)
n.2124T>A
n.2128T>A
1g.1044166T>CCA337836020AGRNc.2057T>C (p.Leu686Pro)
c.1742T>C (p.Leu581Pro)
c.1643T>C (p.Leu548Pro)
c.1184T>C (p.Leu395Pro)
c.323T>C (p.Leu108Pro)
n.2124T>C
n.2128T>C
1g.1044166T>GCA337836022AGRNc.2057T>G (p.Leu686Arg)
c.1742T>G (p.Leu581Arg)
c.1643T>G (p.Leu548Arg)
c.1184T>G (p.Leu395Arg)
c.323T>G (p.Leu108Arg)
n.2124T>G
n.2128T>G
1g.1044167G>ACA415757212AGRNc.2058G>A (p.Leu686=)
c.1743G>A (p.Leu581=)
c.1644G>A (p.Leu548=)
c.1185G>A (p.Leu395=)
c.324G>A (p.Leu108=)
n.2125G>A
n.2129G>A
 gnomAD v4
1g.1044167G>CCA415757213AGRNc.2058G>C (p.Leu686=)
c.1743G>C (p.Leu581=)
c.1644G>C (p.Leu548=)
c.1185G>C (p.Leu395=)
c.324G>C (p.Leu108=)
n.2125G>C
n.2129G>C
1g.1044167G=CA1148775049AGRNc.2058G= (p.Leu686=)
c.1743G= (p.Leu581=)
c.1644G= (p.Leu548=)
c.1185G= (p.Leu395=)
c.324G= (p.Leu108=)
n.2125G=
n.2129G=
1g.1044167G>TCA16754925AGRNc.2058G>T (p.Leu686=)
c.1743G>T (p.Leu581=)
c.1644G>T (p.Leu548=)
c.1185G>T (p.Leu395=)
c.324G>T (p.Leu108=)
n.2125G>T
n.2129G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1044168T>ACA337836024AGRNc.2059T>A (p.Cys687Ser)
c.1744T>A (p.Cys582Ser)
c.1645T>A (p.Cys549Ser)
c.1186T>A (p.Cys396Ser)
c.325T>A (p.Cys109Ser)
n.2126T>A
n.2130T>A
1g.1044168T>CCA337836025AGRNc.2059T>C (p.Cys687Arg)
c.1744T>C (p.Cys582Arg)
c.1645T>C (p.Cys549Arg)
c.1186T>C (p.Cys396Arg)
c.325T>C (p.Cys109Arg)
n.2126T>C
n.2130T>C
 gnomAD v4
1g.1044168T>GCA337836027AGRNc.2059T>G (p.Cys687Gly)
c.1744T>G (p.Cys582Gly)
c.1645T>G (p.Cys549Gly)
c.1186T>G (p.Cys396Gly)
c.325T>G (p.Cys109Gly)
n.2126T>G
n.2130T>G
 gnomAD v4
1g.1044169G>ACA337836031AGRNc.2060G>A (p.Cys687Tyr)
c.1745G>A (p.Cys582Tyr)
c.1646G>A (p.Cys549Tyr)
c.1187G>A (p.Cys396Tyr)
c.326G>A (p.Cys109Tyr)
n.2127G>A
n.2131G>A
1g.1044169G>CCA337836033AGRNc.2060G>C (p.Cys687Ser)
c.1745G>C (p.Cys582Ser)
c.1646G>C (p.Cys549Ser)
c.1187G>C (p.Cys396Ser)
c.326G>C (p.Cys109Ser)
n.2127G>C
n.2131G>C
 dbSNP
1g.1044169G=CA1148775060AGRNc.2060G= (p.Cys687=)
c.1745G= (p.Cys582=)
c.1646G= (p.Cys549=)
c.1187G= (p.Cys396=)
c.326G= (p.Cys109=)
n.2127G=
n.2131G=
1g.1044169G>TCA337836029AGRNc.2060G>T (p.Cys687Phe)
c.1745G>T (p.Cys582Phe)
c.1646G>T (p.Cys549Phe)
c.1187G>T (p.Cys396Phe)
c.326G>T (p.Cys109Phe)
n.2127G>T
n.2131G>T
1g.1044170C>ACA337836034AGRNc.2061C>A (p.Cys687Ter)
c.1746C>A (p.Cys582Ter)
c.1647C>A (p.Cys549Ter)
c.1188C>A (p.Cys396Ter)
c.327C>A (p.Cys109Ter)
n.2128C>A
n.2132C>A
1g.1044170C>GCA337836035AGRNc.2061C>G (p.Cys687Trp)
c.1746C>G (p.Cys582Trp)
c.1647C>G (p.Cys549Trp)
c.1188C>G (p.Cys396Trp)
c.327C>G (p.Cys109Trp)
n.2128C>G
n.2132C>G
1g.1044170C>TCA415757214AGRNc.2061C>T (p.Cys687=)
c.1746C>T (p.Cys582=)
c.1647C>T (p.Cys549=)
c.1188C>T (p.Cys396=)
c.327C>T (p.Cys109=)
n.2128C>T
n.2132C>T
 gnomAD v4
1g.1044171C>ACA508453AGRNc.2062C>A (p.Arg688=)
c.1747C>A (p.Arg583=)
c.1648C>A (p.Arg550=)
c.1189C>A (p.Arg397=)
c.328C>A (p.Arg110=)
n.2129C>A
n.2133C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1044171C=CA1141782999AGRNc.2062C= (p.Arg688=)
c.1747C= (p.Arg583=)
c.1648C= (p.Arg550=)
c.1189C= (p.Arg397=)
c.328C= (p.Arg110=)
n.2129C=
n.2133C=
1g.1044171C>GCA337836036AGRNc.2062C>G (p.Arg688Gly)
c.1747C>G (p.Arg583Gly)
c.1648C>G (p.Arg550Gly)
c.1189C>G (p.Arg397Gly)
c.328C>G (p.Arg110Gly)
n.2129C>G
n.2133C>G
1g.1044171C>TCA508452AGRNc.2062C>T (p.Arg688Trp)
c.1747C>T (p.Arg583Trp)
c.1648C>T (p.Arg550Trp)
c.1189C>T (p.Arg397Trp)
c.328C>T (p.Arg110Trp)
n.2129C>T
n.2133C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044172_1044174dupCA2642490974AGRNc.2063_2065dup (p.Arg688_Gln689insArg)
c.1748_1750dup (p.Arg583_Gln584insArg)
c.1649_1651dup (p.Arg550_Gln551insArg)
c.1190_1192dup (p.Arg397_Gln398insArg)
c.329_331dup (p.Arg110_Gln111insArg)
n.2130_2132dup
n.2134_2136dup
 gnomAD v4
1g.1044172G>ACA508454AGRNc.2063G>A (p.Arg688Gln)
c.1748G>A (p.Arg583Gln)
c.1649G>A (p.Arg550Gln)
c.1190G>A (p.Arg397Gln)
c.329G>A (p.Arg110Gln)
n.2130G>A
n.2134G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1044172G>CCA337836038AGRNc.2063G>C (p.Arg688Pro)
c.1748G>C (p.Arg583Pro)
c.1649G>C (p.Arg550Pro)
c.1190G>C (p.Arg397Pro)
c.329G>C (p.Arg110Pro)
n.2130G>C
n.2134G>C
1g.1044172G=CA1148775072AGRNc.2063G= (p.Arg688=)
c.1748G= (p.Arg583=)
c.1649G= (p.Arg550=)
c.1190G= (p.Arg397=)
c.329G= (p.Arg110=)
n.2130G=
n.2134G=
1g.1044172G>TCA337836039AGRNc.2063G>T (p.Arg688Leu)
c.1748G>T (p.Arg583Leu)
c.1649G>T (p.Arg550Leu)
c.1190G>T (p.Arg397Leu)
c.329G>T (p.Arg110Leu)
n.2130G>T
n.2134G>T
1g.1044173G>ACA415757215AGRNc.2064G>A (p.Arg688=)
c.1749G>A (p.Arg583=)
c.1650G>A (p.Arg550=)
c.1191G>A (p.Arg397=)
c.330G>A (p.Arg110=)
n.2131G>A
n.2135G>A
1g.1044173G>CCA415757216AGRNc.2064G>C (p.Arg688=)
c.1749G>C (p.Arg583=)
c.1650G>C (p.Arg550=)
c.1191G>C (p.Arg397=)
c.330G>C (p.Arg110=)
n.2131G>C
n.2135G>C
 dbSNP
1g.1044173G>TCA415757217AGRNc.2064G>T (p.Arg688=)
c.1749G>T (p.Arg583=)
c.1650G>T (p.Arg550=)
c.1191G>T (p.Arg397=)
c.330G>T (p.Arg110=)
n.2131G>T
n.2135G>T
1g.1044174C>ACA337836041AGRNc.2065C>A (p.Gln689Lys)
c.1750C>A (p.Gln584Lys)
c.1651C>A (p.Gln551Lys)
c.1192C>A (p.Gln398Lys)
c.331C>A (p.Gln111Lys)
n.2132C>A
n.2136C>A
1g.1044174C>GCA337836042AGRNc.2065C>G (p.Gln689Glu)
c.1750C>G (p.Gln584Glu)
c.1651C>G (p.Gln551Glu)
c.1192C>G (p.Gln398Glu)
c.331C>G (p.Gln111Glu)
n.2132C>G
n.2136C>G
1g.1044174C>TCA337836043AGRNc.2065C>T (p.Gln689Ter)
c.1750C>T (p.Gln584Ter)
c.1651C>T (p.Gln551Ter)
c.1192C>T (p.Gln398Ter)
c.331C>T (p.Gln111Ter)
n.2132C>T
n.2136C>T
1g.1044175A>CCA337836044AGRNc.2066A>C (p.Gln689Pro)
c.1751A>C (p.Gln584Pro)
c.1652A>C (p.Gln551Pro)
c.1193A>C (p.Gln398Pro)
c.332A>C (p.Gln111Pro)
n.2133A>C
n.2137A>C
1g.1044175A>GCA337836052AGRNc.2066A>G (p.Gln689Arg)
c.1751A>G (p.Gln584Arg)
c.1652A>G (p.Gln551Arg)
c.1193A>G (p.Gln398Arg)
c.332A>G (p.Gln111Arg)
n.2133A>G
n.2137A>G
1g.1044175A>TCA337836053AGRNc.2066A>T (p.Gln689Leu)
c.1751A>T (p.Gln584Leu)
c.1652A>T (p.Gln551Leu)
c.1193A>T (p.Gln398Leu)
c.332A>T (p.Gln111Leu)
n.2133A>T
n.2137A>T
1g.1044176G>ACA508455AGRNc.2067G>A (p.Gln689=)
c.1752G>A (p.Gln584=)
c.1653G>A (p.Gln551=)
c.1194G>A (p.Gln398=)
c.333G>A (p.Gln111=)
n.2134G>A
n.2138G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044176G>CCA337836055AGRNc.2067G>C (p.Gln689His)
c.1752G>C (p.Gln584His)
c.1653G>C (p.Gln551His)
c.1194G>C (p.Gln398His)
c.333G>C (p.Gln111His)
n.2134G>C
n.2138G>C
1g.1044176G=CA1141707594AGRNc.2067G= (p.Gln689=)
c.1752G= (p.Gln584=)
c.1653G= (p.Gln551=)
c.1194G= (p.Gln398=)
c.333G= (p.Gln111=)
n.2134G=
n.2138G=
1g.1044176G>TCA337836054AGRNc.2067G>T (p.Gln689His)
c.1752G>T (p.Gln584His)
c.1653G>T (p.Gln551His)
c.1194G>T (p.Gln398His)
c.333G>T (p.Gln111His)
n.2134G>T
n.2138G>T
 gnomAD v4
1g.1044177C>ACA337836056AGRNc.2068C>A (p.Arg690Ser)
c.1753C>A (p.Arg585Ser)
c.1654C>A (p.Arg552Ser)
c.1195C>A (p.Arg399Ser)
c.334C>A (p.Arg112Ser)
n.2135C>A
n.2139C>A
 dbSNP gnomAD v4
1g.1044177C=CA1148775081AGRNc.2068C= (p.Arg690=)
c.1753C= (p.Arg585=)
c.1654C= (p.Arg552=)
c.1195C= (p.Arg399=)
c.334C= (p.Arg112=)
n.2135C=
n.2139C=
1g.1044177C>GCA337836058AGRNc.2068C>G (p.Arg690Gly)
c.1753C>G (p.Arg585Gly)
c.1654C>G (p.Arg552Gly)
c.1195C>G (p.Arg399Gly)
c.334C>G (p.Arg112Gly)
n.2135C>G
n.2139C>G
1g.1044177C>TCA337836059AGRNc.2068C>T (p.Arg690Cys)
c.1753C>T (p.Arg585Cys)
c.1654C>T (p.Arg552Cys)
c.1195C>T (p.Arg399Cys)
c.334C>T (p.Arg112Cys)
n.2135C>T
n.2139C>T
 ClinVar dbSNP gnomAD v4 COSMIC
1g.1044178G>ACA508456AGRNc.2069G>A (p.Arg690His)
c.1754G>A (p.Arg585His)
c.1655G>A (p.Arg552His)
c.1196G>A (p.Arg399His)
c.335G>A (p.Arg112His)
n.2136G>A
n.2140G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1044178G>CCA337836060AGRNc.2069G>C (p.Arg690Pro)
c.1754G>C (p.Arg585Pro)
c.1655G>C (p.Arg552Pro)
c.1196G>C (p.Arg399Pro)
c.335G>C (p.Arg112Pro)
n.2136G>C
n.2140G>C
1g.1044178G=CA1148775134AGRNc.2069G= (p.Arg690=)
c.1754G= (p.Arg585=)
c.1655G= (p.Arg552=)
c.1196G= (p.Arg399=)
c.335G= (p.Arg112=)
n.2136G=
n.2140G=
1g.1044178G>TCA337836061AGRNc.2069G>T (p.Arg690Leu)
c.1754G>T (p.Arg585Leu)
c.1655G>T (p.Arg552Leu)
c.1196G>T (p.Arg399Leu)
c.335G>T (p.Arg112Leu)
n.2136G>T
n.2140G>T
1g.1044179C>ACA415757223AGRNc.2070C>A (p.Arg690=)
c.1755C>A (p.Arg585=)
c.1656C>A (p.Arg552=)
c.1197C>A (p.Arg399=)
c.336C>A (p.Arg112=)
n.2137C>A
n.2141C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1044179C=CA1142115540AGRNc.2070C= (p.Arg690=)
c.1755C= (p.Arg585=)
c.1656C= (p.Arg552=)
c.1197C= (p.Arg399=)
c.336C= (p.Arg112=)
n.2137C=
n.2141C=
1g.1044179C>GCA415757224AGRNc.2070C>G (p.Arg690=)
c.1755C>G (p.Arg585=)
c.1656C>G (p.Arg552=)
c.1197C>G (p.Arg399=)
c.336C>G (p.Arg112=)
n.2137C>G
n.2141C>G
1g.1044179C>TCA508457AGRNc.2070C>T (p.Arg690=)
c.1755C>T (p.Arg585=)
c.1656C>T (p.Arg552=)
c.1197C>T (p.Arg399=)
c.336C>T (p.Arg112=)
n.2137C>T
n.2141C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1044180G>ACA508458AGRNc.2071G>A (p.Gly691Ser)
c.1756G>A (p.Gly586Ser)
c.1657G>A (p.Gly553Ser)
c.1198G>A (p.Gly400Ser)
c.337G>A (p.Gly113Ser)
n.2138G>A
n.2142G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044180G>CCA337836065AGRNc.2071G>C (p.Gly691Arg)
c.1756G>C (p.Gly586Arg)
c.1657G>C (p.Gly553Arg)
c.1198G>C (p.Gly400Arg)
c.337G>C (p.Gly113Arg)
n.2138G>C
n.2142G>C
1g.1044180G=CA1148775149AGRNc.2071G= (p.Gly691=)
c.1756G= (p.Gly586=)
c.1657G= (p.Gly553=)
c.1198G= (p.Gly400=)
c.337G= (p.Gly113=)
n.2138G=
n.2142G=
1g.1044180G>TCA337836066AGRNc.2071G>T (p.Gly691Cys)
c.1756G>T (p.Gly586Cys)
c.1657G>T (p.Gly553Cys)
c.1198G>T (p.Gly400Cys)
c.337G>T (p.Gly113Cys)
n.2138G>T
n.2142G>T
1g.1044181G>ACA337836068AGRNc.2072G>A (p.Gly691Asp)
c.1757G>A (p.Gly586Asp)
c.1658G>A (p.Gly553Asp)
c.1199G>A (p.Gly400Asp)
c.338G>A (p.Gly113Asp)
n.2139G>A
n.2143G>A
 gnomAD v4
1g.1044181G>CCA337836072AGRNc.2072G>C (p.Gly691Ala)
c.1757G>C (p.Gly586Ala)
c.1658G>C (p.Gly553Ala)
c.1199G>C (p.Gly400Ala)
c.338G>C (p.Gly113Ala)
n.2139G>C
n.2143G>C
1g.1044181G=CA1148775151AGRNc.2072G= (p.Gly691=)
c.1757G= (p.Gly586=)
c.1658G= (p.Gly553=)
c.1199G= (p.Gly400=)
c.338G= (p.Gly113=)
n.2139G=
n.2143G=
1g.1044181G>TCA337836074AGRNc.2072G>T (p.Gly691Val)
c.1757G>T (p.Gly586Val)
c.1658G>T (p.Gly553Val)
c.1199G>T (p.Gly400Val)
c.338G>T (p.Gly113Val)
n.2139G>T
n.2143G>T
 dbSNP
1g.1044182T>ACA415757229AGRNc.2073T>A (p.Gly691=)
c.1758T>A (p.Gly586=)
c.1659T>A (p.Gly553=)
c.1200T>A (p.Gly400=)
c.339T>A (p.Gly113=)
n.2140T>A
n.2144T>A
1g.1044182T>CCA415757230AGRNc.2073T>C (p.Gly691=)
c.1758T>C (p.Gly586=)
c.1659T>C (p.Gly553=)
c.1200T>C (p.Gly400=)
c.339T>C (p.Gly113=)
n.2140T>C
n.2144T>C
1g.1044182T>GCA415757231AGRNc.2073T>G (p.Gly691=)
c.1758T>G (p.Gly586=)
c.1659T>G (p.Gly553=)
c.1200T>G (p.Gly400=)
c.339T>G (p.Gly113=)
n.2140T>G
n.2144T>G
1g.1044183G>ACA337836079AGRNc.2074G>A (p.Gly692Ser)
c.1759G>A (p.Gly587Ser)
c.1660G>A (p.Gly554Ser)
c.1201G>A (p.Gly401Ser)
c.340G>A (p.Gly114Ser)
n.2141G>A
n.2145G>A
1g.1044183G>CCA337836077AGRNc.2074G>C (p.Gly692Arg)
c.1759G>C (p.Gly587Arg)
c.1660G>C (p.Gly554Arg)
c.1201G>C (p.Gly401Arg)
c.340G>C (p.Gly114Arg)
n.2141G>C
n.2145G>C
1g.1044183G>TCA337836076AGRNc.2074G>T (p.Gly692Cys)
c.1759G>T (p.Gly587Cys)
c.1660G>T (p.Gly554Cys)
c.1201G>T (p.Gly401Cys)
c.340G>T (p.Gly114Cys)
n.2141G>T
n.2145G>T
1g.1044184G>ACA16754937AGRNc.2075G>A (p.Gly692Asp)
c.1760G>A (p.Gly587Asp)
c.1661G>A (p.Gly554Asp)
c.1202G>A (p.Gly401Asp)
c.341G>A (p.Gly114Asp)
n.2142G>A
n.2146G>A
 dbSNP gnomAD v2 gnomAD v4
1g.1044184G>CCA337836080AGRNc.2075G>C (p.Gly692Ala)
c.1760G>C (p.Gly587Ala)
c.1661G>C (p.Gly554Ala)
c.1202G>C (p.Gly401Ala)
c.341G>C (p.Gly114Ala)
n.2142G>C
n.2146G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1044184G=CA1148775156AGRNc.2075G= (p.Gly692=)
c.1760G= (p.Gly587=)
c.1661G= (p.Gly554=)
c.1202G= (p.Gly401=)
c.341G= (p.Gly114=)
n.2142G=
n.2146G=
1g.1044184G>TCA337836082AGRNc.2075G>T (p.Gly692Val)
c.1760G>T (p.Gly587Val)
c.1661G>T (p.Gly554Val)
c.1202G>T (p.Gly401Val)
c.341G>T (p.Gly114Val)
n.2142G>T
n.2146G>T
1g.1044185C>ACA415757237AGRNc.2076C>A (p.Gly692=)
c.1761C>A (p.Gly587=)
c.1662C>A (p.Gly554=)
c.1203C>A (p.Gly401=)
c.342C>A (p.Gly114=)
n.2143C>A
n.2147C>A
1g.1044185C=CA1148775171AGRNc.2076C= (p.Gly692=)
c.1761C= (p.Gly587=)
c.1662C= (p.Gly554=)
c.1203C= (p.Gly401=)
c.342C= (p.Gly114=)
n.2143C=
n.2147C=
1g.1044185C>GCA415757238AGRNc.2076C>G (p.Gly692=)
c.1761C>G (p.Gly587=)
c.1662C>G (p.Gly554=)
c.1203C>G (p.Gly401=)
c.342C>G (p.Gly114=)
n.2143C>G
n.2147C>G
1g.1044185C>TCA415757239AGRNc.2076C>T (p.Gly692=)
c.1761C>T (p.Gly587=)
c.1662C>T (p.Gly554=)
c.1203C>T (p.Gly401=)
c.342C>T (p.Gly114=)
n.2143C>T
n.2147C>T
 dbSNP gnomAD v3 gnomAD v4
1g.1044186A>CCA337836086AGRNc.2077A>C (p.Ile693Leu)
c.1762A>C (p.Ile588Leu)
c.1663A>C (p.Ile555Leu)
c.1204A>C (p.Ile402Leu)
c.343A>C (p.Ile115Leu)
n.2144A>C
n.2148A>C
1g.1044186A>GCA337836088AGRNc.2077A>G (p.Ile693Val)
c.1762A>G (p.Ile588Val)
c.1663A>G (p.Ile555Val)
c.1204A>G (p.Ile402Val)
c.343A>G (p.Ile115Val)
n.2144A>G
n.2148A>G
 gnomAD v4
1g.1044186A>TCA337836089AGRNc.2077A>T (p.Ile693Phe)
c.1762A>T (p.Ile588Phe)
c.1663A>T (p.Ile555Phe)
c.1204A>T (p.Ile402Phe)
c.343A>T (p.Ile115Phe)
n.2144A>T
n.2148A>T
1g.1044187T>ACA337836090AGRNc.2078T>A (p.Ile693Asn)
c.1763T>A (p.Ile588Asn)
c.1664T>A (p.Ile555Asn)
c.1205T>A (p.Ile402Asn)
c.344T>A (p.Ile115Asn)
n.2145T>A
n.2149T>A
1g.1044187T>CCA337836091AGRNc.2078T>C (p.Ile693Thr)
c.1763T>C (p.Ile588Thr)
c.1664T>C (p.Ile555Thr)
c.1205T>C (p.Ile402Thr)
c.344T>C (p.Ile115Thr)
n.2145T>C
n.2149T>C
 gnomAD v4
1g.1044187T>GCA337836093AGRNc.2078T>G (p.Ile693Ser)
c.1763T>G (p.Ile588Ser)
c.1664T>G (p.Ile555Ser)
c.1205T>G (p.Ile402Ser)
c.344T>G (p.Ile115Ser)
n.2145T>G
n.2149T>G
1g.1044188C>ACA415757244AGRNc.2079C>A (p.Ile693=)
c.1764C>A (p.Ile588=)
c.1665C>A (p.Ile555=)
c.1206C>A (p.Ile402=)
c.345C>A (p.Ile115=)
n.2146C>A
n.2150C>A
1g.1044188C>GCA337836094AGRNc.2079C>G (p.Ile693Met)
c.1764C>G (p.Ile588Met)
c.1665C>G (p.Ile555Met)
c.1206C>G (p.Ile402Met)
c.345C>G (p.Ile115Met)
n.2146C>G
n.2150C>G
1g.1044188C>TCA415757245AGRNc.2079C>T (p.Ile693=)
c.1764C>T (p.Ile588=)
c.1665C>T (p.Ile555=)
c.1206C>T (p.Ile402=)
c.345C>T (p.Ile115=)
n.2146C>T
n.2150C>T
 gnomAD v4
1g.1044189T>ACA337836096AGRNc.2080T>A (p.Trp694Arg)
c.1765T>A (p.Trp589Arg)
c.1666T>A (p.Trp556Arg)
c.1207T>A (p.Trp403Arg)
c.346T>A (p.Trp116Arg)
n.2147T>A
n.2151T>A
1g.1044189T>CCA337836098AGRNc.2080T>C (p.Trp694Arg)
c.1765T>C (p.Trp589Arg)
c.1666T>C (p.Trp556Arg)
c.1207T>C (p.Trp403Arg)
c.346T>C (p.Trp116Arg)
n.2147T>C
n.2151T>C
 gnomAD v4
1g.1044189T>GCA337836099AGRNc.2080T>G (p.Trp694Gly)
c.1765T>G (p.Trp589Gly)
c.1666T>G (p.Trp556Gly)
c.1207T>G (p.Trp403Gly)
c.346T>G (p.Trp116Gly)
n.2147T>G
n.2151T>G
1g.1044190G>ACA337836101AGRNc.2081G>A (p.Trp694Ter)
c.1766G>A (p.Trp589Ter)
c.1667G>A (p.Trp556Ter)
c.1208G>A (p.Trp403Ter)
c.347G>A (p.Trp116Ter)
n.2148G>A
n.2152G>A
1g.1044190G>CCA337836102AGRNc.2081G>C (p.Trp694Ser)
c.1766G>C (p.Trp589Ser)
c.1667G>C (p.Trp556Ser)
c.1208G>C (p.Trp403Ser)
c.347G>C (p.Trp116Ser)
n.2148G>C
n.2152G>C
1g.1044190G>TCA337836100AGRNc.2081G>T (p.Trp694Leu)
c.1766G>T (p.Trp589Leu)
c.1667G>T (p.Trp556Leu)
c.1208G>T (p.Trp403Leu)
c.347G>T (p.Trp116Leu)
n.2148G>T
n.2152G>T
1g.1044191G>ACA337836103AGRNc.2082G>A (p.Trp694Ter)
c.1767G>A (p.Trp589Ter)
c.1668G>A (p.Trp556Ter)
c.1209G>A (p.Trp403Ter)
c.348G>A (p.Trp116Ter)
n.2149G>A
n.2153G>A
1g.1044191G>CCA337836104AGRNc.2082G>C (p.Trp694Cys)
c.1767G>C (p.Trp589Cys)
c.1668G>C (p.Trp556Cys)
c.1209G>C (p.Trp403Cys)
c.348G>C (p.Trp116Cys)
n.2149G>C
n.2153G>C
1g.1044191G>TCA337836105AGRNc.2082G>T (p.Trp694Cys)
c.1767G>T (p.Trp589Cys)
c.1668G>T (p.Trp556Cys)
c.1209G>T (p.Trp403Cys)
c.348G>T (p.Trp116Cys)
n.2149G>T
n.2153G>T
1g.1044192G>ACA337836106AGRNc.2083G>A (p.Asp695Asn)
c.1768G>A (p.Asp590Asn)
c.1669G>A (p.Asp557Asn)
c.1210G>A (p.Asp404Asn)
c.349G>A (p.Asp117Asn)
n.2150G>A
n.2154G>A
 dbSNP gnomAD v4
1g.1044192G>CCA337836107AGRNc.2083G>C (p.Asp695His)
c.1768G>C (p.Asp590His)
c.1669G>C (p.Asp557His)
c.1210G>C (p.Asp404His)
c.349G>C (p.Asp117His)
n.2150G>C
n.2154G>C
 ClinVar gnomAD v4
1g.1044192G=CA1148775177AGRNc.2083G= (p.Asp695=)
c.1768G= (p.Asp590=)
c.1669G= (p.Asp557=)
c.1210G= (p.Asp404=)
c.349G= (p.Asp117=)
n.2150G=
n.2154G=
1g.1044192G>TCA337836108AGRNc.2083G>T (p.Asp695Tyr)
c.1768G>T (p.Asp590Tyr)
c.1669G>T (p.Asp557Tyr)
c.1210G>T (p.Asp404Tyr)
c.349G>T (p.Asp117Tyr)
n.2150G>T
n.2154G>T
 dbSNP gnomAD v4
1g.1044193A>CCA337836118AGRNc.2084A>C (p.Asp695Ala)
c.1769A>C (p.Asp590Ala)
c.1670A>C (p.Asp557Ala)
c.1211A>C (p.Asp404Ala)
c.350A>C (p.Asp117Ala)
n.2151A>C
n.2155A>C
1g.1044193A>GCA337836119AGRNc.2084A>G (p.Asp695Gly)
c.1769A>G (p.Asp590Gly)
c.1670A>G (p.Asp557Gly)
c.1211A>G (p.Asp404Gly)
c.350A>G (p.Asp117Gly)
n.2151A>G
n.2155A>G
1g.1044193A>TCA337836120AGRNc.2084A>T (p.Asp695Val)
c.1769A>T (p.Asp590Val)
c.1670A>T (p.Asp557Val)
c.1211A>T (p.Asp404Val)
c.350A>T (p.Asp117Val)
n.2151A>T
n.2155A>T
1g.1044194C>ACA337836121AGRNc.2085C>A (p.Asp695Glu)
c.1770C>A (p.Asp590Glu)
c.1671C>A (p.Asp557Glu)
c.1212C>A (p.Asp404Glu)
c.351C>A (p.Asp117Glu)
n.2152C>A
n.2156C>A
1g.1044194C=CA1148775186AGRNc.2085C= (p.Asp695=)
c.1770C= (p.Asp590=)
c.1671C= (p.Asp557=)
c.1212C= (p.Asp404=)
c.351C= (p.Asp117=)
n.2152C=
n.2156C=
1g.1044194C>GCA337836122AGRNc.2085C>G (p.Asp695Glu)
c.1770C>G (p.Asp590Glu)
c.1671C>G (p.Asp557Glu)
c.1212C>G (p.Asp404Glu)
c.351C>G (p.Asp117Glu)
n.2152C>G
n.2156C>G
1g.1044194C>TCA508459AGRNc.2085C>T (p.Asp695=)
c.1770C>T (p.Asp590=)
c.1671C>T (p.Asp557=)
c.1212C>T (p.Asp404=)
c.351C>T (p.Asp117=)
n.2152C>T
n.2156C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044195G>ACA508460AGRNc.2086G>A (p.Glu696Lys)
c.1771G>A (p.Glu591Lys)
c.1672G>A (p.Glu558Lys)
c.1213G>A (p.Glu405Lys)
c.352G>A (p.Glu118Lys)
n.2153G>A
n.2157G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044195G>CCA337836124AGRNc.2086G>C (p.Glu696Gln)
c.1771G>C (p.Glu591Gln)
c.1672G>C (p.Glu558Gln)
c.1213G>C (p.Glu405Gln)
c.352G>C (p.Glu118Gln)
n.2153G>C
n.2157G>C
 ClinVar dbSNP
1g.1044195G=CA1141902095AGRNc.2086G= (p.Glu696=)
c.1771G= (p.Glu591=)
c.1672G= (p.Glu558=)
c.1213G= (p.Glu405=)
c.352G= (p.Glu118=)
n.2153G=
n.2157G=
1g.1044195G>TCA337836125AGRNc.2086G>T (p.Glu696Ter)
c.1771G>T (p.Glu591Ter)
c.1672G>T (p.Glu558Ter)
c.1213G>T (p.Glu405Ter)
c.352G>T (p.Glu118Ter)
n.2153G>T
n.2157G>T
1g.1044196A>CCA337836127AGRNc.2087A>C (p.Glu696Ala)
c.1772A>C (p.Glu591Ala)
c.1673A>C (p.Glu558Ala)
c.1214A>C (p.Glu405Ala)
c.353A>C (p.Glu118Ala)
n.2154A>C
n.2158A>C
1g.1044196A>GCA337836128AGRNc.2087A>G (p.Glu696Gly)
c.1772A>G (p.Glu591Gly)
c.1673A>G (p.Glu558Gly)
c.1214A>G (p.Glu405Gly)
c.353A>G (p.Glu118Gly)
n.2154A>G
n.2158A>G
1g.1044196A>TCA337836129AGRNc.2087A>T (p.Glu696Val)
c.1772A>T (p.Glu591Val)
c.1673A>T (p.Glu558Val)
c.1214A>T (p.Glu405Val)
c.353A>T (p.Glu118Val)
n.2154A>T
n.2158A>T
1g.1044197G>ACA16754943AGRNc.2088G>A (p.Glu696=)
c.1773G>A (p.Glu591=)
c.1674G>A (p.Glu558=)
c.1215G>A (p.Glu405=)
c.354G>A (p.Glu118=)
n.2155G>A
n.2159G>A
 dbSNP
1g.1044197G>CCA337836130AGRNc.2088G>C (p.Glu696Asp)
c.1773G>C (p.Glu591Asp)
c.1674G>C (p.Glu558Asp)
c.1215G>C (p.Glu405Asp)
c.354G>C (p.Glu118Asp)
n.2155G>C
n.2159G>C
 gnomAD v4
1g.1044197G=CA1143538650AGRNc.2088G= (p.Glu696=)
c.1773G= (p.Glu591=)
c.1674G= (p.Glu558=)
c.1215G= (p.Glu405=)
c.354G= (p.Glu118=)
n.2155G=
n.2159G=
1g.1044197G>TCA337836131AGRNc.2088G>T (p.Glu696Asp)
c.1773G>T (p.Glu591Asp)
c.1674G>T (p.Glu558Asp)
c.1215G>T (p.Glu405Asp)
c.354G>T (p.Glu118Asp)
n.2155G>T
n.2159G>T
1g.1044198G>ACA508461AGRNc.2089G>A (p.Asp697Asn)
c.1774G>A (p.Asp592Asn)
c.1675G>A (p.Asp559Asn)
c.1216G>A (p.Asp406Asn)
c.355G>A (p.Asp119Asn)
n.2156G>A
n.2160G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044198G>CCA337836132AGRNc.2089G>C (p.Asp697His)
c.1774G>C (p.Asp592His)
c.1675G>C (p.Asp559His)
c.1216G>C (p.Asp406His)
c.355G>C (p.Asp119His)
n.2156G>C
n.2160G>C
1g.1044198G=CA1142224811AGRNc.2089G= (p.Asp697=)
c.1774G= (p.Asp592=)
c.1675G= (p.Asp559=)
c.1216G= (p.Asp406=)
c.355G= (p.Asp119=)
n.2156G=
n.2160G=
1g.1044198G>TCA337836134AGRNc.2089G>T (p.Asp697Tyr)
c.1774G>T (p.Asp592Tyr)
c.1675G>T (p.Asp559Tyr)
c.1216G>T (p.Asp406Tyr)
c.355G>T (p.Asp119Tyr)
n.2156G>T
n.2160G>T
1g.1044199A>CCA337836136AGRNc.2090A>C (p.Asp697Ala)
c.1775A>C (p.Asp592Ala)
c.1676A>C (p.Asp559Ala)
c.1217A>C (p.Asp406Ala)
c.356A>C (p.Asp119Ala)
n.2157A>C
n.2161A>C
1g.1044199A>GCA337836138AGRNc.2090A>G (p.Asp697Gly)
c.1775A>G (p.Asp592Gly)
c.1676A>G (p.Asp559Gly)
c.1217A>G (p.Asp406Gly)
c.356A>G (p.Asp119Gly)
n.2157A>G
n.2161A>G
1g.1044199A>TCA337836141AGRNc.2090A>T (p.Asp697Val)
c.1775A>T (p.Asp592Val)
c.1676A>T (p.Asp559Val)
c.1217A>T (p.Asp406Val)
c.356A>T (p.Asp119Val)
n.2157A>T
n.2161A>T
1g.1044200C>ACA337836142AGRNc.2091C>A (p.Asp697Glu)
c.1776C>A (p.Asp592Glu)
c.1677C>A (p.Asp559Glu)
c.1218C>A (p.Asp406Glu)
c.357C>A (p.Asp119Glu)
n.2158C>A
n.2162C>A
 gnomAD v4
1g.1044200C=CA1148775210AGRNc.2091C= (p.Asp697=)
c.1776C= (p.Asp592=)
c.1677C= (p.Asp559=)
c.1218C= (p.Asp406=)
c.357C= (p.Asp119=)
n.2158C=
n.2162C=
1g.1044200C>GCA508462AGRNc.2091C>G (p.Asp697Glu)
c.1776C>G (p.Asp592Glu)
c.1677C>G (p.Asp559Glu)
c.1218C>G (p.Asp406Glu)
c.357C>G (p.Asp119Glu)
n.2158C>G
n.2162C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1044200C>TCA415757261AGRNc.2091C>T (p.Asp697=)
c.1776C>T (p.Asp592=)
c.1677C>T (p.Asp559=)
c.1218C>T (p.Asp406=)
c.357C>T (p.Asp119=)
n.2158C>T
n.2162C>T
1g.1044201T>ACA337836172AGRNc.2092T>A (p.Ser698Thr)
c.1777T>A (p.Ser593Thr)
c.1678T>A (p.Ser560Thr)
c.1219T>A (p.Ser407Thr)
c.358T>A (p.Ser120Thr)
n.2159T>A
n.2163T>A
1g.1044201T>CCA337836175AGRNc.2092T>C (p.Ser698Pro)
c.1777T>C (p.Ser593Pro)
c.1678T>C (p.Ser560Pro)
c.1219T>C (p.Ser407Pro)
c.358T>C (p.Ser120Pro)
n.2159T>C
n.2163T>C
 gnomAD v4
1g.1044201T>GCA337836174AGRNc.2092T>G (p.Ser698Ala)
c.1777T>G (p.Ser593Ala)
c.1678T>G (p.Ser560Ala)
c.1219T>G (p.Ser407Ala)
c.358T>G (p.Ser120Ala)
n.2159T>G
n.2163T>G
 gnomAD v4
1g.1044202C>ACA337836176AGRNc.2093C>A (p.Ser698Ter)
c.1778C>A (p.Ser593Ter)
c.1679C>A (p.Ser560Ter)
c.1220C>A (p.Ser407Ter)
c.359C>A (p.Ser120Ter)
n.2160C>A
n.2164C>A
 gnomAD v4
1g.1044202C=CA1147144681AGRNc.2093C= (p.Ser698=)
c.1778C= (p.Ser593=)
c.1679C= (p.Ser560=)
c.1220C= (p.Ser407=)
c.359C= (p.Ser120=)
n.2160C=
n.2164C=
1g.1044202C>GCA337836181AGRNc.2093C>G (p.Ser698Trp)
c.1778C>G (p.Ser593Trp)
c.1679C>G (p.Ser560Trp)
c.1220C>G (p.Ser407Trp)
c.359C>G (p.Ser120Trp)
n.2160C>G
n.2164C>G
 gnomAD v4
1g.1044202C>TCA508463AGRNc.2093C>T (p.Ser698Leu)
c.1778C>T (p.Ser593Leu)
c.1679C>T (p.Ser560Leu)
c.1220C>T (p.Ser407Leu)
c.359C>T (p.Ser120Leu)
n.2160C>T
n.2164C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044203G>ACA508464AGRNc.2094G>A (p.Ser698=)
c.1779G>A (p.Ser593=)
c.1680G>A (p.Ser560=)
c.1221G>A (p.Ser407=)
c.360G>A (p.Ser120=)
n.2161G>A
n.2165G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044203G>CCA415757264AGRNc.2094G>C (p.Ser698=)
c.1779G>C (p.Ser593=)
c.1680G>C (p.Ser560=)
c.1221G>C (p.Ser407=)
c.360G>C (p.Ser120=)
n.2161G>C
n.2165G>C
1g.1044203G=CA1143430719AGRNc.2094G= (p.Ser698=)
c.1779G= (p.Ser593=)
c.1680G= (p.Ser560=)
c.1221G= (p.Ser407=)
c.360G= (p.Ser120=)
n.2161G=
n.2165G=
1g.1044203G>TCA415757266AGRNc.2094G>T (p.Ser698=)
c.1779G>T (p.Ser593=)
c.1680G>T (p.Ser560=)
c.1221G>T (p.Ser407=)
c.360G>T (p.Ser120=)
n.2161G>T
n.2165G>T
1g.1044204delCA2642490975AGRNc.2095del (p.Glu699ArgfsTer?)
c.1780del (p.Glu594ArgfsTer?)
c.1681del (p.Glu561ArgfsTer?)
c.1222del (p.Glu408ArgfsTer?)
c.361del (p.Glu121ArgfsTer?)
n.2162del
n.2166del
 gnomAD v4
1g.1044204G>ACA337836187AGRNc.2095G>A (p.Glu699Lys)
c.1780G>A (p.Glu594Lys)
c.1681G>A (p.Glu561Lys)
c.1222G>A (p.Glu408Lys)
c.361G>A (p.Glu121Lys)
n.2162G>A
n.2166G>A
1g.1044204G>CCA337836184AGRNc.2095G>C (p.Glu699Gln)
c.1780G>C (p.Glu594Gln)
c.1681G>C (p.Glu561Gln)
c.1222G>C (p.Glu408Gln)
c.361G>C (p.Glu121Gln)
n.2162G>C
n.2166G>C
1g.1044204G>TCA337836186AGRNc.2095G>T (p.Glu699Ter)
c.1780G>T (p.Glu594Ter)
c.1681G>T (p.Glu561Ter)
c.1222G>T (p.Glu408Ter)
c.361G>T (p.Glu121Ter)
n.2162G>T
n.2166G>T
1g.1044205A>CCA337836188AGRNc.2096A>C (p.Glu699Ala)
c.1781A>C (p.Glu594Ala)
c.1682A>C (p.Glu561Ala)
c.1223A>C (p.Glu408Ala)
c.362A>C (p.Glu121Ala)
n.2163A>C
n.2167A>C
 COSMIC
1g.1044205A>GCA337836189AGRNc.2096A>G (p.Glu699Gly)
c.1781A>G (p.Glu594Gly)
c.1682A>G (p.Glu561Gly)
c.1223A>G (p.Glu408Gly)
c.362A>G (p.Glu121Gly)
n.2163A>G
n.2167A>G
 gnomAD v4
1g.1044205A>TCA337836190AGRNc.2096A>T (p.Glu699Val)
c.1781A>T (p.Glu594Val)
c.1682A>T (p.Glu561Val)
c.1223A>T (p.Glu408Val)
c.362A>T (p.Glu121Val)
n.2163A>T
n.2167A>T
1g.1044206G>ACA415757270AGRNc.2097G>A (p.Glu699=)
c.1782G>A (p.Glu594=)
c.1683G>A (p.Glu561=)
c.1224G>A (p.Glu408=)
c.363G>A (p.Glu121=)
n.2164G>A
n.2168G>A
1g.1044206G>CCA337836191AGRNc.2097G>C (p.Glu699Asp)
c.1782G>C (p.Glu594Asp)
c.1683G>C (p.Glu561Asp)
c.1224G>C (p.Glu408Asp)
c.363G>C (p.Glu121Asp)
n.2164G>C
n.2168G>C
1g.1044206G>TCA337836192AGRNc.2097G>T (p.Glu699Asp)
c.1782G>T (p.Glu594Asp)
c.1683G>T (p.Glu561Asp)
c.1224G>T (p.Glu408Asp)
c.363G>T (p.Glu121Asp)
n.2164G>T
n.2168G>T
1g.1044207G>ACA337836193AGRNc.2098G>A (p.Asp700Asn)
c.1783G>A (p.Asp595Asn)
c.1684G>A (p.Asp562Asn)
c.1225G>A (p.Asp409Asn)
c.364G>A (p.Asp122Asn)
n.2165G>A
n.2169G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1044207G>CCA337836194AGRNc.2098G>C (p.Asp700His)
c.1783G>C (p.Asp595His)
c.1684G>C (p.Asp562His)
c.1225G>C (p.Asp409His)
c.364G>C (p.Asp122His)
n.2165G>C
n.2169G>C
1g.1044207G=CA1148775230AGRNc.2098G= (p.Asp700=)
c.1783G= (p.Asp595=)
c.1684G= (p.Asp562=)
c.1225G= (p.Asp409=)
c.364G= (p.Asp122=)
n.2165G=
n.2169G=
1g.1044207G>TCA337836196AGRNc.2098G>T (p.Asp700Tyr)
c.1783G>T (p.Asp595Tyr)
c.1684G>T (p.Asp562Tyr)
c.1225G>T (p.Asp409Tyr)
c.364G>T (p.Asp122Tyr)
n.2165G>T
n.2169G>T
1g.1044208A>CCA337836210AGRNc.2099A>C (p.Asp700Ala)
c.1784A>C (p.Asp595Ala)
c.1685A>C (p.Asp562Ala)
c.1226A>C (p.Asp409Ala)
c.365A>C (p.Asp122Ala)
n.2166A>C
n.2170A>C
1g.1044208A>GCA337836198AGRNc.2099A>G (p.Asp700Gly)
c.1784A>G (p.Asp595Gly)
c.1685A>G (p.Asp562Gly)
c.1226A>G (p.Asp409Gly)
c.365A>G (p.Asp122Gly)
n.2166A>G
n.2170A>G
1g.1044208A>TCA337836197AGRNc.2099A>T (p.Asp700Val)
c.1784A>T (p.Asp595Val)
c.1685A>T (p.Asp562Val)
c.1226A>T (p.Asp409Val)
c.365A>T (p.Asp122Val)
n.2166A>T
n.2170A>T
1g.1044209C>ACA337836213AGRNc.2100C>A (p.Asp700Glu)
c.1785C>A (p.Asp595Glu)
c.1686C>A (p.Asp562Glu)
c.1227C>A (p.Asp409Glu)
c.366C>A (p.Asp122Glu)
n.2167C>A
n.2171C>A
 dbSNP gnomAD v3 gnomAD v4
1g.1044209C=CA1142151299AGRNc.2100C= (p.Asp700=)
c.1785C= (p.Asp595=)
c.1686C= (p.Asp562=)
c.1227C= (p.Asp409=)
c.366C= (p.Asp122=)
n.2167C=
n.2171C=
1g.1044209C>GCA337836216AGRNc.2100C>G (p.Asp700Glu)
c.1785C>G (p.Asp595Glu)
c.1686C>G (p.Asp562Glu)
c.1227C>G (p.Asp409Glu)
c.366C>G (p.Asp122Glu)
n.2167C>G
n.2171C>G
1g.1044209C>TCA508465AGRNc.2100C>T (p.Asp700=)
c.1785C>T (p.Asp595=)
c.1686C>T (p.Asp562=)
c.1227C>T (p.Asp409=)
c.366C>T (p.Asp122=)
n.2167C>T
n.2171C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044210_1044211insCCCGCA2742134790AGRNc.2101_2102insCCCG (p.Gly701AlafsTer7)
c.1786_1787insCCCG (p.Gly596AlafsTer7)
c.1687_1688insCCCG (p.Gly563AlafsTer7)
c.1228_1229insCCCG (p.Gly410AlafsTer7)
c.367_368insCCCG (p.Gly123AlafsTer7)
n.2168_2169insCCCG
n.2172_2173insCCCG
1g.1044210G>ACA508466AGRNc.2101G>A (p.Gly701Arg)
c.1786G>A (p.Gly596Arg)
c.1687G>A (p.Gly563Arg)
c.1228G>A (p.Gly410Arg)
c.367G>A (p.Gly123Arg)
n.2168G>A
n.2172G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044210G>CCA337836218AGRNc.2101G>C (p.Gly701Arg)
c.1786G>C (p.Gly596Arg)
c.1687G>C (p.Gly563Arg)
c.1228G>C (p.Gly410Arg)
c.367G>C (p.Gly123Arg)
n.2168G>C
n.2172G>C
 gnomAD v4
1g.1044210G=CA1142162225AGRNc.2101G= (p.Gly701=)
c.1786G= (p.Gly596=)
c.1687G= (p.Gly563=)
c.1228G= (p.Gly410=)
c.367G= (p.Gly123=)
n.2168G=
n.2172G=
1g.1044210G>TCA337836220AGRNc.2101G>T (p.Gly701Trp)
c.1786G>T (p.Gly596Trp)
c.1687G>T (p.Gly563Trp)
c.1228G>T (p.Gly410Trp)
c.367G>T (p.Gly123Trp)
n.2168G>T
n.2172G>T
1g.1044211G>ACA508467AGRNc.2102G>A (p.Gly701Glu)
c.1787G>A (p.Gly596Glu)
c.1688G>A (p.Gly563Glu)
c.1229G>A (p.Gly410Glu)
c.368G>A (p.Gly123Glu)
n.2169G>A
n.2173G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1044211G>CCA337836222AGRNc.2102G>C (p.Gly701Ala)
c.1787G>C (p.Gly596Ala)
c.1688G>C (p.Gly563Ala)
c.1229G>C (p.Gly410Ala)
c.368G>C (p.Gly123Ala)
n.2169G>C
n.2173G>C
1g.1044211G=CA1148775247AGRNc.2102G= (p.Gly701=)
c.1787G= (p.Gly596=)
c.1688G= (p.Gly563=)
c.1229G= (p.Gly410=)
c.368G= (p.Gly123=)
n.2169G=
n.2173G=
1g.1044211G>TCA337836229AGRNc.2102G>T (p.Gly701Val)
c.1787G>T (p.Gly596Val)
c.1688G>T (p.Gly563Val)
c.1229G>T (p.Gly410Val)
c.368G>T (p.Gly123Val)
n.2169G>T
n.2173G>T
1g.1044212G>ACA415757279AGRNc.2103G>A (p.Gly701=)
c.1788G>A (p.Gly596=)
c.1689G>A (p.Gly563=)
c.1230G>A (p.Gly410=)
c.369G>A (p.Gly123=)
n.2170G>A
n.2174G>A
1g.1044212G>CCA415757280AGRNc.2103G>C (p.Gly701=)
c.1788G>C (p.Gly596=)
c.1689G>C (p.Gly563=)
c.1230G>C (p.Gly410=)
c.369G>C (p.Gly123=)
n.2170G>C
n.2174G>C
1g.1044212G>TCA415757281AGRNc.2103G>T (p.Gly701=)
c.1788G>T (p.Gly596=)
c.1689G>T (p.Gly563=)
c.1230G>T (p.Gly410=)
c.369G>T (p.Gly123=)
n.2170G>T
n.2174G>T
1g.1044213C>ACA337836231AGRNc.2104C>A (p.Pro702Thr)
c.1789C>A (p.Pro597Thr)
c.1690C>A (p.Pro564Thr)
c.1231C>A (p.Pro411Thr)
c.370C>A (p.Pro124Thr)
n.2171C>A
n.2175C>A
1g.1044213C>GCA337836233AGRNc.2104C>G (p.Pro702Ala)
c.1789C>G (p.Pro597Ala)
c.1690C>G (p.Pro564Ala)
c.1231C>G (p.Pro411Ala)
c.370C>G (p.Pro124Ala)
n.2171C>G
n.2175C>G
1g.1044213C>TCA337836236AGRNc.2104C>T (p.Pro702Ser)
c.1789C>T (p.Pro597Ser)
c.1690C>T (p.Pro564Ser)
c.1231C>T (p.Pro411Ser)
c.370C>T (p.Pro124Ser)
n.2171C>T
n.2175C>T
1g.1044214C>ACA508469AGRNc.2105C>A (p.Pro702Gln)
c.1790C>A (p.Pro597Gln)
c.1691C>A (p.Pro564Gln)
c.1232C>A (p.Pro411Gln)
c.371C>A (p.Pro124Gln)
n.2172C>A
n.2176C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044214C=CA1142325105AGRNc.2105C= (p.Pro702=)
c.1790C= (p.Pro597=)
c.1691C= (p.Pro564=)
c.1232C= (p.Pro411=)
c.371C= (p.Pro124=)
n.2172C=
n.2176C=
1g.1044214C>GCA337836241AGRNc.2105C>G (p.Pro702Arg)
c.1790C>G (p.Pro597Arg)
c.1691C>G (p.Pro564Arg)
c.1232C>G (p.Pro411Arg)
c.371C>G (p.Pro124Arg)
n.2172C>G
n.2176C>G
 dbSNP gnomAD v2 gnomAD v4
1g.1044214C>TCA508468AGRNc.2105C>T (p.Pro702Leu)
c.1790C>T (p.Pro597Leu)
c.1691C>T (p.Pro564Leu)
c.1232C>T (p.Pro411Leu)
c.371C>T (p.Pro124Leu)
n.2172C>T
n.2176C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044215G>ACA508470AGRNc.2106G>A (p.Pro702=)
c.1791G>A (p.Pro597=)
c.1692G>A (p.Pro564=)
c.1233G>A (p.Pro411=)
c.372G>A (p.Pro124=)
n.2173G>A
n.2177G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.1044215G>CCA415757288AGRNc.2106G>C (p.Pro702=)
c.1791G>C (p.Pro597=)
c.1692G>C (p.Pro564=)
c.1233G>C (p.Pro411=)
c.372G>C (p.Pro124=)
n.2173G>C
n.2177G>C
1g.1044215G=CA1148775276AGRNc.2106G= (p.Pro702=)
c.1791G= (p.Pro597=)
c.1692G= (p.Pro564=)
c.1233G= (p.Pro411=)
c.372G= (p.Pro124=)
n.2173G=
n.2177G=
1g.1044215G>TCA415757289AGRNc.2106G>T (p.Pro702=)
c.1791G>T (p.Pro597=)
c.1692G>T (p.Pro564=)
c.1233G>T (p.Pro411=)
c.372G>T (p.Pro124=)
n.2173G>T
n.2177G>T
 gnomAD v4 COSMIC
1g.1044216T>ACA337836245AGRNc.2107T>A (p.Cys703Ser)
c.1792T>A (p.Cys598Ser)
c.1693T>A (p.Cys565Ser)
c.1234T>A (p.Cys412Ser)
c.373T>A (p.Cys125Ser)
n.2174T>A
n.2178T>A
1g.1044216T>CCA337836246AGRNc.2107T>C (p.Cys703Arg)
c.1792T>C (p.Cys598Arg)
c.1693T>C (p.Cys565Arg)
c.1234T>C (p.Cys412Arg)
c.373T>C (p.Cys125Arg)
n.2174T>C
n.2178T>C
 gnomAD v4
1g.1044216T>GCA337836247AGRNc.2107T>G (p.Cys703Gly)
c.1792T>G (p.Cys598Gly)
c.1693T>G (p.Cys565Gly)
c.1234T>G (p.Cys412Gly)
c.373T>G (p.Cys125Gly)
n.2174T>G
n.2178T>G
1g.1044220_1044225dupCA884820841AGRNc.2111_2116dup (p.Cys705_Asp706insValCys)
c.1796_1801dup (p.Cys600_Asp601insValCys)
c.1697_1702dup (p.Cys567_Asp568insValCys)
c.1238_1243dup (p.Cys414_Asp415insValCys)
c.377_382dup (p.Cys127_Asp128insValCys)
n.2178_2183dup
n.2182_2187dup
 dbSNP
1g.1044217G>ACA337836250AGRNc.2108G>A (p.Cys703Tyr)
c.1793G>A (p.Cys598Tyr)
c.1694G>A (p.Cys565Tyr)
c.1235G>A (p.Cys412Tyr)
c.374G>A (p.Cys125Tyr)
n.2175G>A
n.2179G>A
 dbSNP
1g.1044217G>CCA337836255AGRNc.2108G>C (p.Cys703Ser)
c.1793G>C (p.Cys598Ser)
c.1694G>C (p.Cys565Ser)
c.1235G>C (p.Cys412Ser)
c.374G>C (p.Cys125Ser)
n.2175G>C
n.2179G>C
1g.1044217G=CA1148775294AGRNc.2108G= (p.Cys703=)
c.1793G= (p.Cys598=)
c.1694G= (p.Cys565=)
c.1235G= (p.Cys412=)
c.374G= (p.Cys125=)
n.2175G=
n.2179G=
1g.1044217G>TCA337836257AGRNc.2108G>T (p.Cys703Phe)
c.1793G>T (p.Cys598Phe)
c.1694G>T (p.Cys565Phe)
c.1235G>T (p.Cys412Phe)
c.374G>T (p.Cys125Phe)
n.2175G>T
n.2179G>T
 dbSNP gnomAD v2 gnomAD v4
1g.1044218T>ACA337836262AGRNc.2109T>A (p.Cys703Ter)
c.1794T>A (p.Cys598Ter)
c.1695T>A (p.Cys565Ter)
c.1236T>A (p.Cys412Ter)
c.375T>A (p.Cys125Ter)
n.2176T>A
n.2180T>A
1g.1044218T>CCA415757292AGRNc.2109T>C (p.Cys703=)
c.1794T>C (p.Cys598=)
c.1695T>C (p.Cys565=)
c.1236T>C (p.Cys412=)
c.375T>C (p.Cys125=)
n.2176T>C
n.2180T>C
1g.1044218T>GCA337836265AGRNc.2109T>G (p.Cys703Trp)
c.1794T>G (p.Cys598Trp)
c.1695T>G (p.Cys565Trp)
c.1236T>G (p.Cys412Trp)
c.375T>G (p.Cys125Trp)
n.2176T>G
n.2180T>G
1g.1044219G>ACA337836266AGRNc.2110G>A (p.Val704Ile)
c.1795G>A (p.Val599Ile)
c.1696G>A (p.Val566Ile)
c.1237G>A (p.Val413Ile)
c.376G>A (p.Val126Ile)
n.2177G>A
n.2181G>A
 gnomAD v4
1g.1044219G>CCA337836267AGRNc.2110G>C (p.Val704Leu)
c.1795G>C (p.Val599Leu)
c.1696G>C (p.Val566Leu)
c.1237G>C (p.Val413Leu)
c.376G>C (p.Val126Leu)
n.2177G>C
n.2181G>C
1g.1044219G>TCA337836268AGRNc.2110G>T (p.Val704Phe)
c.1795G>T (p.Val599Phe)
c.1696G>T (p.Val566Phe)
c.1237G>T (p.Val413Phe)
c.376G>T (p.Val126Phe)
n.2177G>T
n.2181G>T
1g.1044220T>ACA337836272AGRNc.2111T>A (p.Val704Asp)
c.1796T>A (p.Val599Asp)
c.1697T>A (p.Val566Asp)
c.1238T>A (p.Val413Asp)
c.377T>A (p.Val126Asp)
n.2178T>A
n.2182T>A
1g.1044220T>CCA337836273AGRNc.2111T>C (p.Val704Ala)
c.1796T>C (p.Val599Ala)
c.1697T>C (p.Val566Ala)
c.1238T>C (p.Val413Ala)
c.377T>C (p.Val126Ala)
n.2178T>C
n.2182T>C
1g.1044220T>GCA337836270AGRNc.2111T>G (p.Val704Gly)
c.1796T>G (p.Val599Gly)
c.1697T>G (p.Val566Gly)
c.1238T>G (p.Val413Gly)
c.377T>G (p.Val126Gly)
n.2178T>G
n.2182T>G
1g.1044221C>ACA415757297AGRNc.2112C>A (p.Val704=)
c.1797C>A (p.Val599=)
c.1698C>A (p.Val566=)
c.1239C>A (p.Val413=)
c.378C>A (p.Val126=)
n.2179C>A
n.2183C>A
1g.1044221C>GCA415757298AGRNc.2112C>G (p.Val704=)
c.1797C>G (p.Val599=)
c.1698C>G (p.Val566=)
c.1239C>G (p.Val413=)
c.378C>G (p.Val126=)
n.2179C>G
n.2183C>G
 COSMIC
1g.1044221C>TCA415757299AGRNc.2112C>T (p.Val704=)
c.1797C>T (p.Val599=)
c.1698C>T (p.Val566=)
c.1239C>T (p.Val413=)
c.378C>T (p.Val126=)
n.2179C>T
n.2183C>T
 gnomAD v4
1g.1044222T>ACA337836275AGRNc.2113T>A (p.Cys705Ser)
c.1798T>A (p.Cys600Ser)
c.1699T>A (p.Cys567Ser)
c.1240T>A (p.Cys414Ser)
c.379T>A (p.Cys127Ser)
n.2180T>A
n.2184T>A
1g.1044222T>CCA337836276AGRNc.2113T>C (p.Cys705Arg)
c.1798T>C (p.Cys600Arg)
c.1699T>C (p.Cys567Arg)
c.1240T>C (p.Cys414Arg)
c.379T>C (p.Cys127Arg)
n.2180T>C
n.2184T>C
1g.1044222T>GCA337836280AGRNc.2113T>G (p.Cys705Gly)
c.1798T>G (p.Cys600Gly)
c.1699T>G (p.Cys567Gly)
c.1240T>G (p.Cys414Gly)
c.379T>G (p.Cys127Gly)
n.2180T>G
n.2184T>G

Number of alleles fetched