Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.1050477T>ACA337779988AGRNc.5027T>A (p.Leu1676His)
c.4712T>A (p.Leu1571His)
c.4613T>A (p.Leu1538His)
c.4154T>A (p.Leu1385His)
c.3293T>A (p.Leu1098His)
n.5094T>A
n.5098T>A
1g.1050477T>CCA337779987AGRNc.5027T>C (p.Leu1676Pro)
c.4712T>C (p.Leu1571Pro)
c.4613T>C (p.Leu1538Pro)
c.4154T>C (p.Leu1385Pro)
c.3293T>C (p.Leu1098Pro)
n.5094T>C
n.5098T>C
 dbSNP
1g.1050477T>GCA337779989AGRNc.5027T>G (p.Leu1676Arg)
c.4712T>G (p.Leu1571Arg)
c.4613T>G (p.Leu1538Arg)
c.4154T>G (p.Leu1385Arg)
c.3293T>G (p.Leu1098Arg)
n.5094T>G
n.5098T>G
1g.1050477T=CA1148751007AGRNc.5027T= (p.Leu1676=)
c.4712T= (p.Leu1571=)
c.4613T= (p.Leu1538=)
c.4154T= (p.Leu1385=)
c.3293T= (p.Leu1098=)
n.5094T=
n.5098T=
1g.1050478C>ACA415758974AGRNc.5028C>A (p.Leu1676=)
c.4713C>A (p.Leu1571=)
c.4614C>A (p.Leu1538=)
c.4155C>A (p.Leu1385=)
c.3294C>A (p.Leu1098=)
n.5095C>A
n.5099C>A
1g.1050478C=CA1148751049AGRNc.5028C= (p.Leu1676=)
c.4713C= (p.Leu1571=)
c.4614C= (p.Leu1538=)
c.4155C= (p.Leu1385=)
c.3294C= (p.Leu1098=)
n.5095C=
n.5099C=
1g.1050478C>GCA415758975AGRNc.5028C>G (p.Leu1676=)
c.4713C>G (p.Leu1571=)
c.4614C>G (p.Leu1538=)
c.4155C>G (p.Leu1385=)
c.3294C>G (p.Leu1098=)
n.5095C>G
n.5099C>G
1g.1050478C>TCA509826AGRNc.5028C>T (p.Leu1676=)
c.4713C>T (p.Leu1571=)
c.4614C>T (p.Leu1538=)
c.4155C>T (p.Leu1385=)
c.3294C>T (p.Leu1098=)
n.5095C>T
n.5099C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1050479C>ACA337779990AGRNc.5029C>A (p.Leu1677Met)
c.4714C>A (p.Leu1572Met)
c.4615C>A (p.Leu1539Met)
c.4156C>A (p.Leu1386Met)
c.3295C>A (p.Leu1099Met)
n.5096C>A
n.5100C>A
1g.1050479C>GCA337779991AGRNc.5029C>G (p.Leu1677Val)
c.4714C>G (p.Leu1572Val)
c.4615C>G (p.Leu1539Val)
c.4156C>G (p.Leu1386Val)
c.3295C>G (p.Leu1099Val)
n.5096C>G
n.5100C>G
1g.1050479C>TCA415758976AGRNc.5029C>T (p.Leu1677=)
c.4714C>T (p.Leu1572=)
c.4615C>T (p.Leu1539=)
c.4156C>T (p.Leu1386=)
c.3295C>T (p.Leu1099=)
n.5096C>T
n.5100C>T
 gnomAD v4
1g.1050480T>ACA337779993AGRNc.5030T>A (p.Leu1677Gln)
c.4715T>A (p.Leu1572Gln)
c.4616T>A (p.Leu1539Gln)
c.4157T>A (p.Leu1386Gln)
c.3296T>A (p.Leu1099Gln)
n.5097T>A
n.5101T>A
1g.1050480T>CCA337779995AGRNc.5030T>C (p.Leu1677Pro)
c.4715T>C (p.Leu1572Pro)
c.4616T>C (p.Leu1539Pro)
c.4157T>C (p.Leu1386Pro)
c.3296T>C (p.Leu1099Pro)
n.5097T>C
n.5101T>C
1g.1050480T>GCA337779997AGRNc.5030T>G (p.Leu1677Arg)
c.4715T>G (p.Leu1572Arg)
c.4616T>G (p.Leu1539Arg)
c.4157T>G (p.Leu1386Arg)
c.3296T>G (p.Leu1099Arg)
n.5097T>G
n.5101T>G
1g.1050481G>ACA415758978AGRNc.5031G>A (p.Leu1677=)
c.4716G>A (p.Leu1572=)
c.4617G>A (p.Leu1539=)
c.4158G>A (p.Leu1386=)
c.3297G>A (p.Leu1099=)
n.5098G>A
n.5102G>A
1g.1050481G>CCA415758979AGRNc.5031G>C (p.Leu1677=)
c.4716G>C (p.Leu1572=)
c.4617G>C (p.Leu1539=)
c.4158G>C (p.Leu1386=)
c.3297G>C (p.Leu1099=)
n.5098G>C
n.5102G>C
1g.1050481G>TCA415758980AGRNc.5031G>T (p.Leu1677=)
c.4716G>T (p.Leu1572=)
c.4617G>T (p.Leu1539=)
c.4158G>T (p.Leu1386=)
c.3297G>T (p.Leu1099=)
n.5098G>T
n.5102G>T
 gnomAD v4
1g.1050482C>ACA337779999AGRNc.5032C>A (p.Leu1678Ile)
c.4717C>A (p.Leu1573Ile)
c.4618C>A (p.Leu1540Ile)
c.4159C>A (p.Leu1387Ile)
c.3298C>A (p.Leu1100Ile)
n.5099C>A
n.5103C>A
1g.1050482C=CA1148751058AGRNc.5032C= (p.Leu1678=)
c.4717C= (p.Leu1573=)
c.4618C= (p.Leu1540=)
c.4159C= (p.Leu1387=)
c.3298C= (p.Leu1100=)
n.5099C=
n.5103C=
1g.1050482C>GCA337780001AGRNc.5032C>G (p.Leu1678Val)
c.4717C>G (p.Leu1573Val)
c.4618C>G (p.Leu1540Val)
c.4159C>G (p.Leu1387Val)
c.3298C>G (p.Leu1100Val)
n.5099C>G
n.5103C>G
1g.1050482C>TCA337780003AGRNc.5032C>T (p.Leu1678Phe)
c.4717C>T (p.Leu1573Phe)
c.4618C>T (p.Leu1540Phe)
c.4159C>T (p.Leu1387Phe)
c.3298C>T (p.Leu1100Phe)
n.5099C>T
n.5103C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1050483T>ACA337780009AGRNc.5033T>A (p.Leu1678His)
c.4718T>A (p.Leu1573His)
c.4619T>A (p.Leu1540His)
c.4160T>A (p.Leu1387His)
c.3299T>A (p.Leu1100His)
n.5100T>A
n.5104T>A
1g.1050483T>CCA337780011AGRNc.5033T>C (p.Leu1678Pro)
c.4718T>C (p.Leu1573Pro)
c.4619T>C (p.Leu1540Pro)
c.4160T>C (p.Leu1387Pro)
c.3299T>C (p.Leu1100Pro)
n.5100T>C
n.5104T>C
1g.1050483T>GCA337780013AGRNc.5033T>G (p.Leu1678Arg)
c.4718T>G (p.Leu1573Arg)
c.4619T>G (p.Leu1540Arg)
c.4160T>G (p.Leu1387Arg)
c.3299T>G (p.Leu1100Arg)
n.5100T>G
n.5104T>G
1g.1050484C>ACA415758984AGRNc.5034C>A (p.Leu1678=)
c.4719C>A (p.Leu1573=)
c.4620C>A (p.Leu1540=)
c.4161C>A (p.Leu1387=)
c.3300C>A (p.Leu1100=)
n.5101C>A
n.5105C>A
1g.1050484C>GCA415758985AGRNc.5034C>G (p.Leu1678=)
c.4719C>G (p.Leu1573=)
c.4620C>G (p.Leu1540=)
c.4161C>G (p.Leu1387=)
c.3300C>G (p.Leu1100=)
n.5101C>G
n.5105C>G
1g.1050484C>TCA415758983AGRNc.5034C>T (p.Leu1678=)
c.4719C>T (p.Leu1573=)
c.4620C>T (p.Leu1540=)
c.4161C>T (p.Leu1387=)
c.3300C>T (p.Leu1100=)
n.5101C>T
n.5105C>T
 gnomAD v4
1g.1050485T>ACA337780018AGRNc.5035T>A (p.Tyr1679Asn)
c.4720T>A (p.Tyr1574Asn)
c.4621T>A (p.Tyr1541Asn)
c.4162T>A (p.Tyr1388Asn)
c.3301T>A (p.Tyr1101Asn)
n.5102T>A
n.5106T>A
1g.1050485T>CCA337780015AGRNc.5035T>C (p.Tyr1679His)
c.4720T>C (p.Tyr1574His)
c.4621T>C (p.Tyr1541His)
c.4162T>C (p.Tyr1388His)
c.3301T>C (p.Tyr1101His)
n.5102T>C
n.5106T>C
1g.1050485T>GCA337780016AGRNc.5035T>G (p.Tyr1679Asp)
c.4720T>G (p.Tyr1574Asp)
c.4621T>G (p.Tyr1541Asp)
c.4162T>G (p.Tyr1388Asp)
c.3301T>G (p.Tyr1101Asp)
n.5102T>G
n.5106T>G
1g.1050486A>CCA337780020AGRNc.5036A>C (p.Tyr1679Ser)
c.4721A>C (p.Tyr1574Ser)
c.4622A>C (p.Tyr1541Ser)
c.4163A>C (p.Tyr1388Ser)
c.3302A>C (p.Tyr1101Ser)
n.5103A>C
n.5107A>C
1g.1050486A>GCA337780022AGRNc.5036A>G (p.Tyr1679Cys)
c.4721A>G (p.Tyr1574Cys)
c.4622A>G (p.Tyr1541Cys)
c.4163A>G (p.Tyr1388Cys)
c.3302A>G (p.Tyr1101Cys)
n.5103A>G
n.5107A>G
 COSMIC
1g.1050486A>TCA337780024AGRNc.5036A>T (p.Tyr1679Phe)
c.4721A>T (p.Tyr1574Phe)
c.4622A>T (p.Tyr1541Phe)
c.4163A>T (p.Tyr1388Phe)
c.3302A>T (p.Tyr1101Phe)
n.5103A>T
n.5107A>T
1g.1050487C>ACA337780026AGRNc.5037C>A (p.Tyr1679Ter)
c.4722C>A (p.Tyr1574Ter)
c.4623C>A (p.Tyr1541Ter)
c.4164C>A (p.Tyr1388Ter)
c.3303C>A (p.Tyr1101Ter)
n.5104C>A
n.5108C>A
 gnomAD v4
1g.1050487C>GCA337780027AGRNc.5037C>G (p.Tyr1679Ter)
c.4722C>G (p.Tyr1574Ter)
c.4623C>G (p.Tyr1541Ter)
c.4164C>G (p.Tyr1388Ter)
c.3303C>G (p.Tyr1101Ter)
n.5104C>G
n.5108C>G
1g.1050487C>TCA415758989AGRNc.5037C>T (p.Tyr1679=)
c.4722C>T (p.Tyr1574=)
c.4623C>T (p.Tyr1541=)
c.4164C>T (p.Tyr1388=)
c.3303C>T (p.Tyr1101=)
n.5104C>T
n.5108C>T
 gnomAD v4
1g.1050488A=CA1148751061AGRNc.5038A= (p.Asn1680=)
c.4723A= (p.Asn1575=)
c.4624A= (p.Asn1542=)
c.4165A= (p.Asn1389=)
c.3304A= (p.Asn1102=)
n.5105A=
n.5109A=
1g.1050488A>CCA337780028AGRNc.5038A>C (p.Asn1680His)
c.4723A>C (p.Asn1575His)
c.4624A>C (p.Asn1542His)
c.4165A>C (p.Asn1389His)
c.3304A>C (p.Asn1102His)
n.5105A>C
n.5109A>C
1g.1050488A>GCA337780029AGRNc.5038A>G (p.Asn1680Asp)
c.4723A>G (p.Asn1575Asp)
c.4624A>G (p.Asn1542Asp)
c.4165A>G (p.Asn1389Asp)
c.3304A>G (p.Asn1102Asp)
n.5105A>G
n.5109A>G
 ClinVar dbSNP gnomAD v4
1g.1050488A>TCA337780030AGRNc.5038A>T (p.Asn1680Tyr)
c.4723A>T (p.Asn1575Tyr)
c.4624A>T (p.Asn1542Tyr)
c.4165A>T (p.Asn1389Tyr)
c.3304A>T (p.Asn1102Tyr)
n.5105A>T
n.5109A>T
1g.1050489A>CCA337780031AGRNc.5039A>C (p.Asn1680Thr)
c.4724A>C (p.Asn1575Thr)
c.4625A>C (p.Asn1542Thr)
c.4166A>C (p.Asn1389Thr)
c.3305A>C (p.Asn1102Thr)
n.5106A>C
n.5110A>C
1g.1050489A>GCA337780032AGRNc.5039A>G (p.Asn1680Ser)
c.4724A>G (p.Asn1575Ser)
c.4625A>G (p.Asn1542Ser)
c.4166A>G (p.Asn1389Ser)
c.3305A>G (p.Asn1102Ser)
n.5106A>G
n.5110A>G
1g.1050489A>TCA337780034AGRNc.5039A>T (p.Asn1680Ile)
c.4724A>T (p.Asn1575Ile)
c.4625A>T (p.Asn1542Ile)
c.4166A>T (p.Asn1389Ile)
c.3305A>T (p.Asn1102Ile)
n.5106A>T
n.5110A>T
1g.1050490C>ACA337780037AGRNc.5040C>A (p.Asn1680Lys)
c.4725C>A (p.Asn1575Lys)
c.4626C>A (p.Asn1542Lys)
c.4167C>A (p.Asn1389Lys)
c.3306C>A (p.Asn1102Lys)
n.5107C>A
n.5111C>A
 gnomAD v4
1g.1050490C=CA1143600900AGRNc.5040C= (p.Asn1680=)
c.4725C= (p.Asn1575=)
c.4626C= (p.Asn1542=)
c.4167C= (p.Asn1389=)
c.3306C= (p.Asn1102=)
n.5107C=
n.5111C=
1g.1050490C>GCA337780039AGRNc.5040C>G (p.Asn1680Lys)
c.4725C>G (p.Asn1575Lys)
c.4626C>G (p.Asn1542Lys)
c.4167C>G (p.Asn1389Lys)
c.3306C>G (p.Asn1102Lys)
n.5107C>G
n.5111C>G
1g.1050490C>TCA509827AGRNc.5040C>T (p.Asn1680=)
c.4725C>T (p.Asn1575=)
c.4626C>T (p.Asn1542=)
c.4167C>T (p.Asn1389=)
c.3306C>T (p.Asn1102=)
n.5107C>T
n.5111C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050491G>ACA509828AGRNc.5041G>A (p.Gly1681Arg)
c.4726G>A (p.Gly1576Arg)
c.4627G>A (p.Gly1543Arg)
c.4168G>A (p.Gly1390Arg)
c.3307G>A (p.Gly1103Arg)
n.5108G>A
n.5112G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1050491G>CCA337780044AGRNc.5041G>C (p.Gly1681Arg)
c.4726G>C (p.Gly1576Arg)
c.4627G>C (p.Gly1543Arg)
c.4168G>C (p.Gly1390Arg)
c.3307G>C (p.Gly1103Arg)
n.5108G>C
n.5112G>C
1g.1050491G=CA1148751072AGRNc.5041G= (p.Gly1681=)
c.4726G= (p.Gly1576=)
c.4627G= (p.Gly1543=)
c.4168G= (p.Gly1390=)
c.3307G= (p.Gly1103=)
n.5108G=
n.5112G=
1g.1050491G>TCA337780046AGRNc.5041G>T (p.Gly1681Trp)
c.4726G>T (p.Gly1576Trp)
c.4627G>T (p.Gly1543Trp)
c.4168G>T (p.Gly1390Trp)
c.3307G>T (p.Gly1103Trp)
n.5108G>T
n.5112G>T
1g.1050492G>ACA337780048AGRNc.5042G>A (p.Gly1681Glu)
c.4727G>A (p.Gly1576Glu)
c.4628G>A (p.Gly1543Glu)
c.4169G>A (p.Gly1390Glu)
c.3308G>A (p.Gly1103Glu)
n.5109G>A
n.5113G>A
1g.1050492G>CCA337780050AGRNc.5042G>C (p.Gly1681Ala)
c.4727G>C (p.Gly1576Ala)
c.4628G>C (p.Gly1543Ala)
c.4169G>C (p.Gly1390Ala)
c.3308G>C (p.Gly1103Ala)
n.5109G>C
n.5113G>C
 gnomAD v4
1g.1050492G>TCA337780052AGRNc.5042G>T (p.Gly1681Val)
c.4727G>T (p.Gly1576Val)
c.4628G>T (p.Gly1543Val)
c.4169G>T (p.Gly1390Val)
c.3308G>T (p.Gly1103Val)
n.5109G>T
n.5113G>T
1g.1050493G>ACA415758993AGRNc.5043G>A (p.Gly1681=)
c.4728G>A (p.Gly1576=)
c.4629G>A (p.Gly1543=)
c.4170G>A (p.Gly1390=)
c.3309G>A (p.Gly1103=)
n.5110G>A
n.5114G>A
 gnomAD v4
1g.1050493G>CCA415758994AGRNc.5043G>C (p.Gly1681=)
c.4728G>C (p.Gly1576=)
c.4629G>C (p.Gly1543=)
c.4170G>C (p.Gly1390=)
c.3309G>C (p.Gly1103=)
n.5110G>C
n.5114G>C
 dbSNP
1g.1050493G=CA1148751076AGRNc.5043G= (p.Gly1681=)
c.4728G= (p.Gly1576=)
c.4629G= (p.Gly1543=)
c.4170G= (p.Gly1390=)
c.3309G= (p.Gly1103=)
n.5110G=
n.5114G=
1g.1050493G>TCA415758995AGRNc.5043G>T (p.Gly1681=)
c.4728G>T (p.Gly1576=)
c.4629G>T (p.Gly1543=)
c.4170G>T (p.Gly1390=)
c.3309G>T (p.Gly1103=)
n.5110G>T
n.5114G>T
1g.1050494C>ACA337780058AGRNc.5044C>A (p.Gln1682Lys)
c.4729C>A (p.Gln1577Lys)
c.4630C>A (p.Gln1544Lys)
c.4171C>A (p.Gln1391Lys)
c.3310C>A (p.Gln1104Lys)
n.5111C>A
n.5115C>A
1g.1050494C>GCA337780054AGRNc.5044C>G (p.Gln1682Glu)
c.4729C>G (p.Gln1577Glu)
c.4630C>G (p.Gln1544Glu)
c.4171C>G (p.Gln1391Glu)
c.3310C>G (p.Gln1104Glu)
n.5111C>G
n.5115C>G
1g.1050494C>TCA337780056AGRNc.5044C>T (p.Gln1682Ter)
c.4729C>T (p.Gln1577Ter)
c.4630C>T (p.Gln1544Ter)
c.4171C>T (p.Gln1391Ter)
c.3310C>T (p.Gln1104Ter)
n.5111C>T
n.5115C>T
 gnomAD v4
1g.1050495A>CCA337780060AGRNc.5045A>C (p.Gln1682Pro)
c.4730A>C (p.Gln1577Pro)
c.4631A>C (p.Gln1544Pro)
c.4172A>C (p.Gln1391Pro)
c.3311A>C (p.Gln1104Pro)
n.5112A>C
n.5116A>C
1g.1050495A>GCA337780062AGRNc.5045A>G (p.Gln1682Arg)
c.4730A>G (p.Gln1577Arg)
c.4631A>G (p.Gln1544Arg)
c.4172A>G (p.Gln1391Arg)
c.3311A>G (p.Gln1104Arg)
n.5112A>G
n.5116A>G
1g.1050495A>TCA337780064AGRNc.5045A>T (p.Gln1682Leu)
c.4730A>T (p.Gln1577Leu)
c.4631A>T (p.Gln1544Leu)
c.4172A>T (p.Gln1391Leu)
c.3311A>T (p.Gln1104Leu)
n.5112A>T
n.5116A>T
1g.1050496G>ACA415758999AGRNc.5046G>A (p.Gln1682=)
c.4731G>A (p.Gln1577=)
c.4632G>A (p.Gln1544=)
c.4173G>A (p.Gln1391=)
c.3312G>A (p.Gln1104=)
n.5113G>A
n.5117G>A
1g.1050496G>CCA337780065AGRNc.5046G>C (p.Gln1682His)
c.4731G>C (p.Gln1577His)
c.4632G>C (p.Gln1544His)
c.4173G>C (p.Gln1391His)
c.3312G>C (p.Gln1104His)
n.5113G>C
n.5117G>C
1g.1050496G>TCA337780066AGRNc.5046G>T (p.Gln1682His)
c.4731G>T (p.Gln1577His)
c.4632G>T (p.Gln1544His)
c.4173G>T (p.Gln1391His)
c.3312G>T (p.Gln1104His)
n.5113G>T
n.5117G>T
1g.1050497A>CCA337780067AGRNc.5047A>C (p.Lys1683Gln)
c.4732A>C (p.Lys1578Gln)
c.4633A>C (p.Lys1545Gln)
c.4174A>C (p.Lys1392Gln)
c.3313A>C (p.Lys1105Gln)
n.5114A>C
n.5118A>C
1g.1050497A>GCA337780069AGRNc.5047A>G (p.Lys1683Glu)
c.4732A>G (p.Lys1578Glu)
c.4633A>G (p.Lys1545Glu)
c.4174A>G (p.Lys1392Glu)
c.3313A>G (p.Lys1105Glu)
n.5114A>G
n.5118A>G
1g.1050497A>TCA337780068AGRNc.5047A>T (p.Lys1683Ter)
c.4732A>T (p.Lys1578Ter)
c.4633A>T (p.Lys1545Ter)
c.4174A>T (p.Lys1392Ter)
c.3313A>T (p.Lys1105Ter)
n.5114A>T
n.5118A>T
1g.1050498A=CA1148751087AGRNc.5048A= (p.Lys1683=)
c.4733A= (p.Lys1578=)
c.4634A= (p.Lys1545=)
c.4175A= (p.Lys1392=)
c.3314A= (p.Lys1105=)
n.5115A=
n.5119A=
1g.1050498A>CCA337780071AGRNc.5048A>C (p.Lys1683Thr)
c.4733A>C (p.Lys1578Thr)
c.4634A>C (p.Lys1545Thr)
c.4175A>C (p.Lys1392Thr)
c.3314A>C (p.Lys1105Thr)
n.5115A>C
n.5119A>C
1g.1050498A>GCA337780076AGRNc.5048A>G (p.Lys1683Arg)
c.4733A>G (p.Lys1578Arg)
c.4634A>G (p.Lys1545Arg)
c.4175A>G (p.Lys1392Arg)
c.3314A>G (p.Lys1105Arg)
n.5115A>G
n.5119A>G
1g.1050498A>TCA509829AGRNc.5048A>T (p.Lys1683Met)
c.4733A>T (p.Lys1578Met)
c.4634A>T (p.Lys1545Met)
c.4175A>T (p.Lys1392Met)
c.3314A>T (p.Lys1105Met)
n.5115A>T
n.5119A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050498_1050501delinsAGACCA1148751081AGRNc.5048_5051delinsAGAC (p.Lys1683=)
c.4733_4736delinsAGAC (p.Lys1578=)
c.4634_4637delinsAGAC (p.Lys1545=)
c.4175_4178delinsAGAC (p.Lys1392=)
c.3314_3317delinsAGAC (p.Lys1105=)
n.5115_5118delinsAGAC
n.5119_5122delinsAGAC
1g.1050499G>ACA415759000AGRNc.5049G>A (p.Lys1683=)
c.4734G>A (p.Lys1578=)
c.4635G>A (p.Lys1545=)
c.4176G>A (p.Lys1392=)
c.3315G>A (p.Lys1105=)
n.5116G>A
n.5120G>A
 gnomAD v4
1g.1050499G>CCA337780089AGRNc.5049G>C (p.Lys1683Asn)
c.4734G>C (p.Lys1578Asn)
c.4635G>C (p.Lys1545Asn)
c.4176G>C (p.Lys1392Asn)
c.3315G>C (p.Lys1105Asn)
n.5116G>C
n.5120G>C
1g.1050499G>TCA337780091AGRNc.5049G>T (p.Lys1683Asn)
c.4734G>T (p.Lys1578Asn)
c.4635G>T (p.Lys1545Asn)
c.4176G>T (p.Lys1392Asn)
c.3315G>T (p.Lys1105Asn)
n.5116G>T
n.5120G>T
1g.1050500_1050502delCA509830AGRNc.5050_5052del (p.Thr1684del)
c.4735_4737del (p.Thr1579del)
c.4636_4638del (p.Thr1546del)
c.4177_4179del (p.Thr1393del)
c.3316_3318del (p.Thr1106del)
n.5117_5119del
n.5121_5123del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050500A>CCA337780092AGRNc.5050A>C (p.Thr1684Pro)
c.4735A>C (p.Thr1579Pro)
c.4636A>C (p.Thr1546Pro)
c.4177A>C (p.Thr1393Pro)
c.3316A>C (p.Thr1106Pro)
n.5117A>C
n.5121A>C
 ClinVar
1g.1050500A>GCA337780093AGRNc.5050A>G (p.Thr1684Ala)
c.4735A>G (p.Thr1579Ala)
c.4636A>G (p.Thr1546Ala)
c.4177A>G (p.Thr1393Ala)
c.3316A>G (p.Thr1106Ala)
n.5117A>G
n.5121A>G
1g.1050500A>TCA337780095AGRNc.5050A>T (p.Thr1684Ser)
c.4735A>T (p.Thr1579Ser)
c.4636A>T (p.Thr1546Ser)
c.4177A>T (p.Thr1393Ser)
c.3316A>T (p.Thr1106Ser)
n.5117A>T
n.5121A>T
1g.1050501C>ACA337780097AGRNc.5051C>A (p.Thr1684Lys)
c.4736C>A (p.Thr1579Lys)
c.4637C>A (p.Thr1546Lys)
c.4178C>A (p.Thr1393Lys)
c.3317C>A (p.Thr1106Lys)
n.5118C>A
n.5122C>A
1g.1050501C=CA1148751095AGRNc.5051C= (p.Thr1684=)
c.4736C= (p.Thr1579=)
c.4637C= (p.Thr1546=)
c.4178C= (p.Thr1393=)
c.3317C= (p.Thr1106=)
n.5118C=
n.5122C=
1g.1050501C>GCA337780099AGRNc.5051C>G (p.Thr1684Arg)
c.4736C>G (p.Thr1579Arg)
c.4637C>G (p.Thr1546Arg)
c.4178C>G (p.Thr1393Arg)
c.3317C>G (p.Thr1106Arg)
n.5118C>G
n.5122C>G
1g.1050501C>TCA509831AGRNc.5051C>T (p.Thr1684Met)
c.4736C>T (p.Thr1579Met)
c.4637C>T (p.Thr1546Met)
c.4178C>T (p.Thr1393Met)
c.3317C>T (p.Thr1106Met)
n.5118C>T
n.5122C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050502G>ACA509832AGRNc.5052G>A (p.Thr1684=)
c.4737G>A (p.Thr1579=)
c.4638G>A (p.Thr1546=)
c.4179G>A (p.Thr1393=)
c.3318G>A (p.Thr1106=)
n.5119G>A
n.5123G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050502G>CCA415759002AGRNc.5052G>C (p.Thr1684=)
c.4737G>C (p.Thr1579=)
c.4638G>C (p.Thr1546=)
c.4179G>C (p.Thr1393=)
c.3318G>C (p.Thr1106=)
n.5119G>C
n.5123G>C
 dbSNP gnomAD v3 gnomAD v4
1g.1050502G=CA1142347947AGRNc.5052G= (p.Thr1684=)
c.4737G= (p.Thr1579=)
c.4638G= (p.Thr1546=)
c.4179G= (p.Thr1393=)
c.3318G= (p.Thr1106=)
n.5119G=
n.5123G=
1g.1050502G>TCA415759003AGRNc.5052G>T (p.Thr1684=)
c.4737G>T (p.Thr1579=)
c.4638G>T (p.Thr1546=)
c.4179G>T (p.Thr1393=)
c.3318G>T (p.Thr1106=)
n.5119G>T
n.5123G>T
1g.1050504_1050512delCA2642492246AGRNc.5054_5062del (p.Asp1685_Lys1687del)
c.4739_4747del (p.Asp1580_Lys1582del)
c.4640_4648del (p.Asp1547_Lys1549del)
c.4181_4189del (p.Asp1394_Lys1396del)
c.3320_3328del (p.Asp1107_Lys1109del)
n.5121_5129del
n.5125_5133del
 gnomAD v4
1g.1050503G>ACA337780104AGRNc.5053G>A (p.Asp1685Asn)
c.4738G>A (p.Asp1580Asn)
c.4639G>A (p.Asp1547Asn)
c.4180G>A (p.Asp1394Asn)
c.3319G>A (p.Asp1107Asn)
n.5120G>A
n.5124G>A
 dbSNP COSMIC
1g.1050503G>CCA337780102AGRNc.5053G>C (p.Asp1685His)
c.4738G>C (p.Asp1580His)
c.4639G>C (p.Asp1547His)
c.4180G>C (p.Asp1394His)
c.3319G>C (p.Asp1107His)
n.5120G>C
n.5124G>C
1g.1050503G=CA1148751110AGRNc.5053G= (p.Asp1685=)
c.4738G= (p.Asp1580=)
c.4639G= (p.Asp1547=)
c.4180G= (p.Asp1394=)
c.3319G= (p.Asp1107=)
n.5120G=
n.5124G=
1g.1050503G>TCA337780106AGRNc.5053G>T (p.Asp1685Tyr)
c.4738G>T (p.Asp1580Tyr)
c.4639G>T (p.Asp1547Tyr)
c.4180G>T (p.Asp1394Tyr)
c.3319G>T (p.Asp1107Tyr)
n.5120G>T
n.5124G>T
1g.1050504A>CCA337780109AGRNc.5054A>C (p.Asp1685Ala)
c.4739A>C (p.Asp1580Ala)
c.4640A>C (p.Asp1547Ala)
c.4181A>C (p.Asp1394Ala)
c.3320A>C (p.Asp1107Ala)
n.5121A>C
n.5125A>C
1g.1050504A>GCA337780110AGRNc.5054A>G (p.Asp1685Gly)
c.4739A>G (p.Asp1580Gly)
c.4640A>G (p.Asp1547Gly)
c.4181A>G (p.Asp1394Gly)
c.3320A>G (p.Asp1107Gly)
n.5121A>G
n.5125A>G
1g.1050504A>TCA337780112AGRNc.5054A>T (p.Asp1685Val)
c.4739A>T (p.Asp1580Val)
c.4640A>T (p.Asp1547Val)
c.4181A>T (p.Asp1394Val)
c.3320A>T (p.Asp1107Val)
n.5121A>T
n.5125A>T
1g.1050505C>ACA337780115AGRNc.5055C>A (p.Asp1685Glu)
c.4740C>A (p.Asp1580Glu)
c.4641C>A (p.Asp1547Glu)
c.4182C>A (p.Asp1394Glu)
c.3321C>A (p.Asp1107Glu)
n.5122C>A
n.5126C>A
1g.1050505C=CA1148751121AGRNc.5055C= (p.Asp1685=)
c.4740C= (p.Asp1580=)
c.4641C= (p.Asp1547=)
c.4182C= (p.Asp1394=)
c.3321C= (p.Asp1107=)
n.5122C=
n.5126C=
1g.1050505C>GCA337780116AGRNc.5055C>G (p.Asp1685Glu)
c.4740C>G (p.Asp1580Glu)
c.4641C>G (p.Asp1547Glu)
c.4182C>G (p.Asp1394Glu)
c.3321C>G (p.Asp1107Glu)
n.5122C>G
n.5126C>G
1g.1050505C>TCA509833AGRNc.5055C>T (p.Asp1685=)
c.4740C>T (p.Asp1580=)
c.4641C>T (p.Asp1547=)
c.4182C>T (p.Asp1394=)
c.3321C>T (p.Asp1107=)
n.5122C>T
n.5126C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050506G>ACA509834AGRNc.5056G>A (p.Gly1686Ser)
c.4741G>A (p.Gly1581Ser)
c.4642G>A (p.Gly1548Ser)
c.4183G>A (p.Gly1395Ser)
c.3322G>A (p.Gly1108Ser)
n.5123G>A
n.5127G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050506G>CCA337780120AGRNc.5056G>C (p.Gly1686Arg)
c.4741G>C (p.Gly1581Arg)
c.4642G>C (p.Gly1548Arg)
c.4183G>C (p.Gly1395Arg)
c.3322G>C (p.Gly1108Arg)
n.5123G>C
n.5127G>C
1g.1050506G=CA1141888199AGRNc.5056G= (p.Gly1686=)
c.4741G= (p.Gly1581=)
c.4642G= (p.Gly1548=)
c.4183G= (p.Gly1395=)
c.3322G= (p.Gly1108=)
n.5123G=
n.5127G=
1g.1050506G>TCA337780122AGRNc.5056G>T (p.Gly1686Cys)
c.4741G>T (p.Gly1581Cys)
c.4642G>T (p.Gly1548Cys)
c.4183G>T (p.Gly1395Cys)
c.3322G>T (p.Gly1108Cys)
n.5123G>T
n.5127G>T
1g.1050507G>ACA337780124AGRNc.5057G>A (p.Gly1686Asp)
c.4742G>A (p.Gly1581Asp)
c.4643G>A (p.Gly1548Asp)
c.4184G>A (p.Gly1395Asp)
c.3323G>A (p.Gly1108Asp)
n.5124G>A
n.5128G>A
 dbSNP
1g.1050507G>CCA337780130AGRNc.5057G>C (p.Gly1686Ala)
c.4742G>C (p.Gly1581Ala)
c.4643G>C (p.Gly1548Ala)
c.4184G>C (p.Gly1395Ala)
c.3323G>C (p.Gly1108Ala)
n.5124G>C
n.5128G>C
1g.1050507G=CA1148751136AGRNc.5057G= (p.Gly1686=)
c.4742G= (p.Gly1581=)
c.4643G= (p.Gly1548=)
c.4184G= (p.Gly1395=)
c.3323G= (p.Gly1108=)
n.5124G=
n.5128G=
1g.1050507G>TCA337780132AGRNc.5057G>T (p.Gly1686Val)
c.4742G>T (p.Gly1581Val)
c.4643G>T (p.Gly1548Val)
c.4184G>T (p.Gly1395Val)
c.3323G>T (p.Gly1108Val)
n.5124G>T
n.5128G>T
1g.1050508C>ACA415759010AGRNc.5058C>A (p.Gly1686=)
c.4743C>A (p.Gly1581=)
c.4644C>A (p.Gly1548=)
c.4185C>A (p.Gly1395=)
c.3324C>A (p.Gly1108=)
n.5125C>A
n.5129C>A
1g.1050508C>GCA415759011AGRNc.5058C>G (p.Gly1686=)
c.4743C>G (p.Gly1581=)
c.4644C>G (p.Gly1548=)
c.4185C>G (p.Gly1395=)
c.3324C>G (p.Gly1108=)
n.5125C>G
n.5129C>G
 gnomAD v4
1g.1050508C>TCA415759012AGRNc.5058C>T (p.Gly1686=)
c.4743C>T (p.Gly1581=)
c.4644C>T (p.Gly1548=)
c.4185C>T (p.Gly1395=)
c.3324C>T (p.Gly1108=)
n.5125C>T
n.5129C>T
1g.1050509A=CA1148751146AGRNc.5059A= (p.Lys1687=)
c.4744A= (p.Lys1582=)
c.4645A= (p.Lys1549=)
c.4186A= (p.Lys1396=)
c.3325A= (p.Lys1109=)
n.5126A=
n.5130A=
1g.1050509A>CCA337780137AGRNc.5059A>C (p.Lys1687Gln)
c.4744A>C (p.Lys1582Gln)
c.4645A>C (p.Lys1549Gln)
c.4186A>C (p.Lys1396Gln)
c.3325A>C (p.Lys1109Gln)
n.5126A>C
n.5130A>C
1g.1050509A>GCA16701136AGRNc.5059A>G (p.Lys1687Glu)
c.4744A>G (p.Lys1582Glu)
c.4645A>G (p.Lys1549Glu)
c.4186A>G (p.Lys1396Glu)
c.3325A>G (p.Lys1109Glu)
n.5126A>G
n.5130A>G
 dbSNP gnomAD v3 gnomAD v4
1g.1050509A>TCA337780135AGRNc.5059A>T (p.Lys1687Ter)
c.4744A>T (p.Lys1582Ter)
c.4645A>T (p.Lys1549Ter)
c.4186A>T (p.Lys1396Ter)
c.3325A>T (p.Lys1109Ter)
n.5126A>T
n.5130A>T
1g.1050510A=CA1148751150AGRNc.5060A= (p.Lys1687=)
c.4745A= (p.Lys1582=)
c.4646A= (p.Lys1549=)
c.4187A= (p.Lys1396=)
c.3326A= (p.Lys1109=)
n.5127A=
n.5131A=
1g.1050510A>CCA337780140AGRNc.5060A>C (p.Lys1687Thr)
c.4745A>C (p.Lys1582Thr)
c.4646A>C (p.Lys1549Thr)
c.4187A>C (p.Lys1396Thr)
c.3326A>C (p.Lys1109Thr)
n.5127A>C
n.5131A>C
1g.1050510A>GCA337780141AGRNc.5060A>G (p.Lys1687Arg)
c.4745A>G (p.Lys1582Arg)
c.4646A>G (p.Lys1549Arg)
c.4187A>G (p.Lys1396Arg)
c.3326A>G (p.Lys1109Arg)
n.5127A>G
n.5131A>G
1g.1050510A>TCA337780143AGRNc.5060A>T (p.Lys1687Met)
c.4745A>T (p.Lys1582Met)
c.4646A>T (p.Lys1549Met)
c.4187A>T (p.Lys1396Met)
c.3326A>T (p.Lys1109Met)
n.5127A>T
n.5131A>T
1g.1050511G>ACA415759014AGRNc.5061G>A (p.Lys1687=)
c.4746G>A (p.Lys1582=)
c.4647G>A (p.Lys1549=)
c.4188G>A (p.Lys1396=)
c.3327G>A (p.Lys1109=)
n.5128G>A
n.5132G>A
 dbSNP gnomAD v3 gnomAD v4
1g.1050511G>CCA337780145AGRNc.5061G>C (p.Lys1687Asn)
c.4746G>C (p.Lys1582Asn)
c.4647G>C (p.Lys1549Asn)
c.4188G>C (p.Lys1396Asn)
c.3327G>C (p.Lys1109Asn)
n.5128G>C
n.5132G>C
1g.1050511G=CA1148751160AGRNc.5061G= (p.Lys1687=)
c.4746G= (p.Lys1582=)
c.4647G= (p.Lys1549=)
c.4188G= (p.Lys1396=)
c.3327G= (p.Lys1109=)
n.5128G=
n.5132G=
1g.1050511G>TCA337780147AGRNc.5061G>T (p.Lys1687Asn)
c.4746G>T (p.Lys1582Asn)
c.4647G>T (p.Lys1549Asn)
c.4188G>T (p.Lys1396Asn)
c.3327G>T (p.Lys1109Asn)
n.5128G>T
n.5132G>T
1g.1050512_1050515dupCA520625225AGRNc.5062_5065dup (p.Asp1689GlyfsTer?)
c.4747_4750dup (p.Asp1584GlyfsTer?)
c.4648_4651dup (p.Asp1551GlyfsTer?)
c.4189_4192dup (p.Asp1398GlyfsTer?)
c.3328_3331dup (p.Asp1111GlyfsTer?)
n.5129_5132dup
n.5133_5136dup
 dbSNP gnomAD v2 gnomAD v4
1g.1050512G>ACA337780149AGRNc.5062G>A (p.Gly1688Arg)
c.4747G>A (p.Gly1583Arg)
c.4648G>A (p.Gly1550Arg)
c.4189G>A (p.Gly1397Arg)
c.3328G>A (p.Gly1110Arg)
n.5129G>A
n.5133G>A
1g.1050512G>CCA337780151AGRNc.5062G>C (p.Gly1688Arg)
c.4747G>C (p.Gly1583Arg)
c.4648G>C (p.Gly1550Arg)
c.4189G>C (p.Gly1397Arg)
c.3328G>C (p.Gly1110Arg)
n.5129G>C
n.5133G>C
1g.1050512G>TCA337780153AGRNc.5062G>T (p.Gly1688Trp)
c.4747G>T (p.Gly1583Trp)
c.4648G>T (p.Gly1550Trp)
c.4189G>T (p.Gly1397Trp)
c.3328G>T (p.Gly1110Trp)
n.5129G>T
n.5133G>T
1g.1050513G>ACA337780155AGRNc.5063G>A (p.Gly1688Glu)
c.4748G>A (p.Gly1583Glu)
c.4649G>A (p.Gly1550Glu)
c.4190G>A (p.Gly1397Glu)
c.3329G>A (p.Gly1110Glu)
n.5130G>A
n.5134G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1050513G>CCA337780156AGRNc.5063G>C (p.Gly1688Ala)
c.4748G>C (p.Gly1583Ala)
c.4649G>C (p.Gly1550Ala)
c.4190G>C (p.Gly1397Ala)
c.3329G>C (p.Gly1110Ala)
n.5130G>C
n.5134G>C
1g.1050513G=CA1148751166AGRNc.5063G= (p.Gly1688=)
c.4748G= (p.Gly1583=)
c.4649G= (p.Gly1550=)
c.4190G= (p.Gly1397=)
c.3329G= (p.Gly1110=)
n.5130G=
n.5134G=
1g.1050513G>TCA337780158AGRNc.5063G>T (p.Gly1688Val)
c.4748G>T (p.Gly1583Val)
c.4649G>T (p.Gly1550Val)
c.4190G>T (p.Gly1397Val)
c.3329G>T (p.Gly1110Val)
n.5130G>T
n.5134G>T
1g.1050514G>ACA415759018AGRNc.5064G>A (p.Gly1688=)
c.4749G>A (p.Gly1583=)
c.4650G>A (p.Gly1550=)
c.4191G>A (p.Gly1397=)
c.3330G>A (p.Gly1110=)
n.5131G>A
n.5135G>A
 gnomAD v4
1g.1050514G>CCA415759019AGRNc.5064G>C (p.Gly1688=)
c.4749G>C (p.Gly1583=)
c.4650G>C (p.Gly1550=)
c.4191G>C (p.Gly1397=)
c.3330G>C (p.Gly1110=)
n.5131G>C
n.5135G>C
1g.1050514G>TCA415759020AGRNc.5064G>T (p.Gly1688=)
c.4749G>T (p.Gly1583=)
c.4650G>T (p.Gly1550=)
c.4191G>T (p.Gly1397=)
c.3330G>T (p.Gly1110=)
n.5131G>T
n.5135G>T
1g.1050515G>ACA337780161AGRNc.5065G>A (p.Asp1689Asn)
c.4750G>A (p.Asp1584Asn)
c.4651G>A (p.Asp1551Asn)
c.4192G>A (p.Asp1398Asn)
c.3331G>A (p.Asp1111Asn)
n.5132G>A
n.5136G>A
1g.1050515G>CCA337780162AGRNc.5065G>C (p.Asp1689His)
c.4750G>C (p.Asp1584His)
c.4651G>C (p.Asp1551His)
c.4192G>C (p.Asp1398His)
c.3331G>C (p.Asp1111His)
n.5132G>C
n.5136G>C
1g.1050515G=CA1148751175AGRNc.5065G= (p.Asp1689=)
c.4750G= (p.Asp1584=)
c.4651G= (p.Asp1551=)
c.4192G= (p.Asp1398=)
c.3331G= (p.Asp1111=)
n.5132G=
n.5136G=
1g.1050515G>TCA337780160AGRNc.5065G>T (p.Asp1689Tyr)
c.4750G>T (p.Asp1584Tyr)
c.4651G>T (p.Asp1551Tyr)
c.4192G>T (p.Asp1398Tyr)
c.3331G>T (p.Asp1111Tyr)
n.5132G>T
n.5136G>T
 dbSNP gnomAD v2
1g.1050516A>CCA337780171AGRNc.5066A>C (p.Asp1689Ala)
c.4751A>C (p.Asp1584Ala)
c.4652A>C (p.Asp1551Ala)
c.4193A>C (p.Asp1398Ala)
c.3332A>C (p.Asp1111Ala)
n.5133A>C
n.5137A>C
1g.1050516A>GCA337780173AGRNc.5066A>G (p.Asp1689Gly)
c.4751A>G (p.Asp1584Gly)
c.4652A>G (p.Asp1551Gly)
c.4193A>G (p.Asp1398Gly)
c.3332A>G (p.Asp1111Gly)
n.5133A>G
n.5137A>G
1g.1050516A>TCA337780174AGRNc.5066A>T (p.Asp1689Val)
c.4751A>T (p.Asp1584Val)
c.4652A>T (p.Asp1551Val)
c.4193A>T (p.Asp1398Val)
c.3332A>T (p.Asp1111Val)
n.5133A>T
n.5137A>T
 gnomAD v4
1g.1050517C>ACA337780175AGRNc.5067C>A (p.Asp1689Glu)
c.4752C>A (p.Asp1584Glu)
c.4653C>A (p.Asp1551Glu)
c.4194C>A (p.Asp1398Glu)
c.3333C>A (p.Asp1111Glu)
n.5134C>A
n.5138C>A
1g.1050517C>GCA337780176AGRNc.5067C>G (p.Asp1689Glu)
c.4752C>G (p.Asp1584Glu)
c.4653C>G (p.Asp1551Glu)
c.4194C>G (p.Asp1398Glu)
c.3333C>G (p.Asp1111Glu)
n.5134C>G
n.5138C>G
1g.1050517C>TCA415759024AGRNc.5067C>T (p.Asp1689=)
c.4752C>T (p.Asp1584=)
c.4653C>T (p.Asp1551=)
c.4194C>T (p.Asp1398=)
c.3333C>T (p.Asp1111=)
n.5134C>T
n.5138C>T
 gnomAD v4
1g.1050518T>ACA337780179AGRNc.5068T>A (p.Phe1690Ile)
c.4753T>A (p.Phe1585Ile)
c.4654T>A (p.Phe1552Ile)
c.4195T>A (p.Phe1399Ile)
c.3334T>A (p.Phe1112Ile)
n.5135T>A
n.5139T>A
1g.1050518T>CCA337780178AGRNc.5068T>C (p.Phe1690Leu)
c.4753T>C (p.Phe1585Leu)
c.4654T>C (p.Phe1552Leu)
c.4195T>C (p.Phe1399Leu)
c.3334T>C (p.Phe1112Leu)
n.5135T>C
n.5139T>C
 gnomAD v4
1g.1050518T>GCA337780177AGRNc.5068T>G (p.Phe1690Val)
c.4753T>G (p.Phe1585Val)
c.4654T>G (p.Phe1552Val)
c.4195T>G (p.Phe1399Val)
c.3334T>G (p.Phe1112Val)
n.5135T>G
n.5139T>G
1g.1050518_1050521delinsTTCGCA1148751185AGRNc.5068_5071delinsTTCG (p.Phe1690=)
c.4753_4756delinsTTCG (p.Phe1585=)
c.4654_4657delinsTTCG (p.Phe1552=)
c.4195_4198delinsTTCG (p.Phe1399=)
c.3334_3337delinsTTCG (p.Phe1112=)
n.5135_5138delinsTTCG
n.5139_5142delinsTTCG
1g.1050519T>ACA337780180AGRNc.5069T>A (p.Phe1690Tyr)
c.4754T>A (p.Phe1585Tyr)
c.4655T>A (p.Phe1552Tyr)
c.4196T>A (p.Phe1399Tyr)
c.3335T>A (p.Phe1112Tyr)
n.5136T>A
n.5140T>A
1g.1050519T>CCA337780181AGRNc.5069T>C (p.Phe1690Ser)
c.4754T>C (p.Phe1585Ser)
c.4655T>C (p.Phe1552Ser)
c.4196T>C (p.Phe1399Ser)
c.3335T>C (p.Phe1112Ser)
n.5136T>C
n.5140T>C
1g.1050519T>GCA337780182AGRNc.5069T>G (p.Phe1690Cys)
c.4754T>G (p.Phe1585Cys)
c.4655T>G (p.Phe1552Cys)
c.4196T>G (p.Phe1399Cys)
c.3335T>G (p.Phe1112Cys)
n.5136T>G
n.5140T>G
1g.1050520_1050522delCA520625226AGRNc.5070_5072del (p.Phe1690_Val1691delinsLeu)
c.4755_4757del (p.Phe1585_Val1586delinsLeu)
c.4656_4658del (p.Phe1552_Val1553delinsLeu)
c.4197_4199del (p.Phe1399_Val1400delinsLeu)
c.3336_3338del (p.Phe1112_Val1113delinsLeu)
n.5137_5139del
n.5141_5143del
 dbSNP gnomAD v2
1g.1050520C>ACA337780183AGRNc.5070C>A (p.Phe1690Leu)
c.4755C>A (p.Phe1585Leu)
c.4656C>A (p.Phe1552Leu)
c.4197C>A (p.Phe1399Leu)
c.3336C>A (p.Phe1112Leu)
n.5137C>A
n.5141C>A
 gnomAD v4
1g.1050520C=CA1140465422AGRNc.5070C= (p.Phe1690=)
c.4755C= (p.Phe1585=)
c.4656C= (p.Phe1552=)
c.4197C= (p.Phe1399=)
c.3336C= (p.Phe1112=)
n.5137C=
n.5141C=
1g.1050520C>GCA509835AGRNc.5070C>G (p.Phe1690Leu)
c.4755C>G (p.Phe1585Leu)
c.4656C>G (p.Phe1552Leu)
c.4197C>G (p.Phe1399Leu)
c.3336C>G (p.Phe1112Leu)
n.5137C>G
n.5141C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050520C>TCA151672AGRNc.5070C>T (p.Phe1690=)
c.4755C>T (p.Phe1585=)
c.4656C>T (p.Phe1552=)
c.4197C>T (p.Phe1399=)
c.3336C>T (p.Phe1112=)
n.5137C>T
n.5141C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050521G>ACA509836AGRNc.5071G>A (p.Val1691Met)
c.4756G>A (p.Val1586Met)
c.4657G>A (p.Val1553Met)
c.4198G>A (p.Val1400Met)
c.3337G>A (p.Val1113Met)
n.5138G>A
n.5142G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050521G>CCA337780185AGRNc.5071G>C (p.Val1691Leu)
c.4756G>C (p.Val1586Leu)
c.4657G>C (p.Val1553Leu)
c.4198G>C (p.Val1400Leu)
c.3337G>C (p.Val1113Leu)
n.5138G>C
n.5142G>C
 dbSNP gnomAD v2 gnomAD v4
1g.1050521G=CA1148751208AGRNc.5071G= (p.Val1691=)
c.4756G= (p.Val1586=)
c.4657G= (p.Val1553=)
c.4198G= (p.Val1400=)
c.3337G= (p.Val1113=)
n.5138G=
n.5142G=
1g.1050521G>TCA337780184AGRNc.5071G>T (p.Val1691Leu)
c.4756G>T (p.Val1586Leu)
c.4657G>T (p.Val1553Leu)
c.4198G>T (p.Val1400Leu)
c.3337G>T (p.Val1113Leu)
n.5138G>T
n.5142G>T
 dbSNP gnomAD v2
1g.1050522T>ACA337780186AGRNc.5072T>A (p.Val1691Glu)
c.4757T>A (p.Val1586Glu)
c.4658T>A (p.Val1553Glu)
c.4199T>A (p.Val1400Glu)
c.3338T>A (p.Val1113Glu)
n.5139T>A
n.5143T>A
1g.1050522T>CCA337780187AGRNc.5072T>C (p.Val1691Ala)
c.4757T>C (p.Val1586Ala)
c.4658T>C (p.Val1553Ala)
c.4199T>C (p.Val1400Ala)
c.3338T>C (p.Val1113Ala)
n.5139T>C
n.5143T>C
1g.1050522T>GCA337780188AGRNc.5072T>G (p.Val1691Gly)
c.4757T>G (p.Val1586Gly)
c.4658T>G (p.Val1553Gly)
c.4199T>G (p.Val1400Gly)
c.3338T>G (p.Val1113Gly)
n.5139T>G
n.5143T>G
1g.1050523G>ACA509837AGRNc.5073G>A (p.Val1691=)
c.4758G>A (p.Val1586=)
c.4659G>A (p.Val1553=)
c.4200G>A (p.Val1400=)
c.3339G>A (p.Val1113=)
n.5140G>A
n.5144G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050523G>CCA415759032AGRNc.5073G>C (p.Val1691=)
c.4758G>C (p.Val1586=)
c.4659G>C (p.Val1553=)
c.4200G>C (p.Val1400=)
c.3339G>C (p.Val1113=)
n.5140G>C
n.5144G>C
1g.1050523G=CA1148751225AGRNc.5073G= (p.Val1691=)
c.4758G= (p.Val1586=)
c.4659G= (p.Val1553=)
c.4200G= (p.Val1400=)
c.3339G= (p.Val1113=)
n.5140G=
n.5144G=
1g.1050523G>TCA415759031AGRNc.5073G>T (p.Val1691=)
c.4758G>T (p.Val1586=)
c.4659G>T (p.Val1553=)
c.4200G>T (p.Val1400=)
c.3339G>T (p.Val1113=)
n.5140G>T
n.5144G>T
1g.1050524T>ACA337780189AGRNc.5074T>A (p.Ser1692Thr)
c.4759T>A (p.Ser1587Thr)
c.4660T>A (p.Ser1554Thr)
c.4201T>A (p.Ser1401Thr)
c.3340T>A (p.Ser1114Thr)
n.5141T>A
n.5145T>A
1g.1050524T>CCA337780190AGRNc.5074T>C (p.Ser1692Pro)
c.4759T>C (p.Ser1587Pro)
c.4660T>C (p.Ser1554Pro)
c.4201T>C (p.Ser1401Pro)
c.3340T>C (p.Ser1114Pro)
n.5141T>C
n.5145T>C
 dbSNP
1g.1050524T>GCA337780191AGRNc.5074T>G (p.Ser1692Ala)
c.4759T>G (p.Ser1587Ala)
c.4660T>G (p.Ser1554Ala)
c.4201T>G (p.Ser1401Ala)
c.3340T>G (p.Ser1114Ala)
n.5141T>G
n.5145T>G
1g.1050524T=CA1148751255AGRNc.5074T= (p.Ser1692=)
c.4759T= (p.Ser1587=)
c.4660T= (p.Ser1554=)
c.4201T= (p.Ser1401=)
c.3340T= (p.Ser1114=)
n.5141T=
n.5145T=
1g.1050525C>ACA337780192AGRNc.5075C>A (p.Ser1692Ter)
c.4760C>A (p.Ser1587Ter)
c.4661C>A (p.Ser1554Ter)
c.4202C>A (p.Ser1401Ter)
c.3341C>A (p.Ser1114Ter)
n.5142C>A
n.5146C>A
1g.1050525C=CA1141911029AGRNc.5075C= (p.Ser1692=)
c.4760C= (p.Ser1587=)
c.4661C= (p.Ser1554=)
c.4202C= (p.Ser1401=)
c.3341C= (p.Ser1114=)
n.5142C=
n.5146C=
1g.1050525C>GCA337780193AGRNc.5075C>G (p.Ser1692Trp)
c.4760C>G (p.Ser1587Trp)
c.4661C>G (p.Ser1554Trp)
c.4202C>G (p.Ser1401Trp)
c.3341C>G (p.Ser1114Trp)
n.5142C>G
n.5146C>G
1g.1050525C>TCA509838AGRNc.5075C>T (p.Ser1692Leu)
c.4760C>T (p.Ser1587Leu)
c.4661C>T (p.Ser1554Leu)
c.4202C>T (p.Ser1401Leu)
c.3341C>T (p.Ser1114Leu)
n.5142C>T
n.5146C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050526G>ACA509839AGRNc.5076G>A (p.Ser1692=)
c.4761G>A (p.Ser1587=)
c.4662G>A (p.Ser1554=)
c.4203G>A (p.Ser1401=)
c.3342G>A (p.Ser1114=)
n.5143G>A
n.5147G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1050526G>CCA415759035AGRNc.5076G>C (p.Ser1692=)
c.4761G>C (p.Ser1587=)
c.4662G>C (p.Ser1554=)
c.4203G>C (p.Ser1401=)
c.3342G>C (p.Ser1114=)
n.5143G>C
n.5147G>C
 gnomAD v4
1g.1050526G=CA1144114687AGRNc.5076G= (p.Ser1692=)
c.4761G= (p.Ser1587=)
c.4662G= (p.Ser1554=)
c.4203G= (p.Ser1401=)
c.3342G= (p.Ser1114=)
n.5143G=
n.5147G=
1g.1050526G>TCA415759036AGRNc.5076G>T (p.Ser1692=)
c.4761G>T (p.Ser1587=)
c.4662G>T (p.Ser1554=)
c.4203G>T (p.Ser1401=)
c.3342G>T (p.Ser1114=)
n.5143G>T
n.5147G>T
1g.1050527C>ACA337780194AGRNc.5077C>A (p.Leu1693Met)
c.4762C>A (p.Leu1588Met)
c.4663C>A (p.Leu1555Met)
c.4204C>A (p.Leu1402Met)
c.3343C>A (p.Leu1115Met)
n.5144C>A
n.5148C>A
1g.1050527C>GCA337780195AGRNc.5077C>G (p.Leu1693Val)
c.4762C>G (p.Leu1588Val)
c.4663C>G (p.Leu1555Val)
c.4204C>G (p.Leu1402Val)
c.3343C>G (p.Leu1115Val)
n.5144C>G
n.5148C>G
1g.1050527C>TCA415759037AGRNc.5077C>T (p.Leu1693=)
c.4762C>T (p.Leu1588=)
c.4663C>T (p.Leu1555=)
c.4204C>T (p.Leu1402=)
c.3343C>T (p.Leu1115=)
n.5144C>T
n.5148C>T
1g.1050528T>ACA337780197AGRNc.5078T>A (p.Leu1693Gln)
c.4763T>A (p.Leu1588Gln)
c.4664T>A (p.Leu1555Gln)
c.4205T>A (p.Leu1402Gln)
c.3344T>A (p.Leu1115Gln)
n.5145T>A
n.5149T>A
1g.1050528T>CCA337780198AGRNc.5078T>C (p.Leu1693Pro)
c.4763T>C (p.Leu1588Pro)
c.4664T>C (p.Leu1555Pro)
c.4205T>C (p.Leu1402Pro)
c.3344T>C (p.Leu1115Pro)
n.5145T>C
n.5149T>C
1g.1050528T>GCA337780196AGRNc.5078T>G (p.Leu1693Arg)
c.4763T>G (p.Leu1588Arg)
c.4664T>G (p.Leu1555Arg)
c.4205T>G (p.Leu1402Arg)
c.3344T>G (p.Leu1115Arg)
n.5145T>G
n.5149T>G
1g.1050529G>ACA415759038AGRNc.5079G>A (p.Leu1693=)
c.4764G>A (p.Leu1588=)
c.4665G>A (p.Leu1555=)
c.4206G>A (p.Leu1402=)
c.3345G>A (p.Leu1115=)
n.5146G>A
n.5150G>A
1g.1050529G>CCA415759040AGRNc.5079G>C (p.Leu1693=)
c.4764G>C (p.Leu1588=)
c.4665G>C (p.Leu1555=)
c.4206G>C (p.Leu1402=)
c.3345G>C (p.Leu1115=)
n.5146G>C
n.5150G>C
1g.1050529G>TCA415759039AGRNc.5079G>T (p.Leu1693=)
c.4764G>T (p.Leu1588=)
c.4665G>T (p.Leu1555=)
c.4206G>T (p.Leu1402=)
c.3345G>T (p.Leu1115=)
n.5146G>T
n.5150G>T
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

Number of alleles fetched