| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.1050473G>A | CA509824 | AGRN | c.5023G>A (p.Gly1675Ser) c.4708G>A (p.Gly1570Ser) c.4609G>A (p.Gly1537Ser) c.4150G>A (p.Gly1384Ser) c.3289G>A (p.Gly1097Ser) n.5090G>A n.5094G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1050473G>C | CA337779969 | AGRN | c.5023G>C (p.Gly1675Arg) c.4708G>C (p.Gly1570Arg) c.4609G>C (p.Gly1537Arg) c.4150G>C (p.Gly1384Arg) c.3289G>C (p.Gly1097Arg) n.5090G>C n.5094G>C | |
| 1 | g.1050473G= | CA1148750998 | AGRN | c.5023G= (p.Gly1675=) c.4708G= (p.Gly1570=) c.4609G= (p.Gly1537=) c.4150G= (p.Gly1384=) c.3289G= (p.Gly1097=) n.5090G= n.5094G= | |
| 1 | g.1050473G>T | CA337779975 | AGRN | c.5023G>T (p.Gly1675Cys) c.4708G>T (p.Gly1570Cys) c.4609G>T (p.Gly1537Cys) c.4150G>T (p.Gly1384Cys) c.3289G>T (p.Gly1097Cys) n.5090G>T n.5094G>T | |
| 1 | g.1050474G>A | CA337779977 | AGRN | c.5024G>A (p.Gly1675Asp) c.4709G>A (p.Gly1570Asp) c.4610G>A (p.Gly1537Asp) c.4151G>A (p.Gly1384Asp) c.3290G>A (p.Gly1097Asp) n.5091G>A n.5095G>A | |
| 1 | g.1050474G>C | CA337779979 | AGRN | c.5024G>C (p.Gly1675Ala) c.4709G>C (p.Gly1570Ala) c.4610G>C (p.Gly1537Ala) c.4151G>C (p.Gly1384Ala) c.3290G>C (p.Gly1097Ala) n.5091G>C n.5095G>C | |
| 1 | g.1050474G>T | CA337779980 | AGRN | c.5024G>T (p.Gly1675Val) c.4709G>T (p.Gly1570Val) c.4610G>T (p.Gly1537Val) c.4151G>T (p.Gly1384Val) c.3290G>T (p.Gly1097Val) n.5091G>T n.5095G>T | |
| 1 | g.1050475C>A | CA415758971 | AGRN | c.5025C>A (p.Gly1675=) c.4710C>A (p.Gly1570=) c.4611C>A (p.Gly1537=) c.4152C>A (p.Gly1384=) c.3291C>A (p.Gly1097=) n.5092C>A n.5096C>A | |
| 1 | g.1050475C= | CA1142211895 | AGRN | c.5025C= (p.Gly1675=) c.4710C= (p.Gly1570=) c.4611C= (p.Gly1537=) c.4152C= (p.Gly1384=) c.3291C= (p.Gly1097=) n.5092C= n.5096C= | |
| 1 | g.1050475C>G | CA415758970 | AGRN | c.5025C>G (p.Gly1675=) c.4710C>G (p.Gly1570=) c.4611C>G (p.Gly1537=) c.4152C>G (p.Gly1384=) c.3291C>G (p.Gly1097=) n.5092C>G n.5096C>G | |
| 1 | g.1050475C>T | CA509825 | AGRN | c.5025C>T (p.Gly1675=) c.4710C>T (p.Gly1570=) c.4611C>T (p.Gly1537=) c.4152C>T (p.Gly1384=) c.3291C>T (p.Gly1097=) n.5092C>T n.5096C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1050476C>A | CA337779985 | AGRN | c.5026C>A (p.Leu1676Ile) c.4711C>A (p.Leu1571Ile) c.4612C>A (p.Leu1538Ile) c.4153C>A (p.Leu1385Ile) c.3292C>A (p.Leu1098Ile) n.5093C>A n.5097C>A | |
| 1 | g.1050476C>G | CA337779986 | AGRN | c.5026C>G (p.Leu1676Val) c.4711C>G (p.Leu1571Val) c.4612C>G (p.Leu1538Val) c.4153C>G (p.Leu1385Val) c.3292C>G (p.Leu1098Val) n.5093C>G n.5097C>G | |
| 1 | g.1050476C>T | CA337779984 | AGRN | c.5026C>T (p.Leu1676Phe) c.4711C>T (p.Leu1571Phe) c.4612C>T (p.Leu1538Phe) c.4153C>T (p.Leu1385Phe) c.3292C>T (p.Leu1098Phe) n.5093C>T n.5097C>T | |
| 1 | g.1050477T>A | CA337779988 | AGRN | c.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 | |
| 1 | g.1050477T>C | CA337779987 | AGRN | c.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 |
| 1 | g.1050477T>G | CA337779989 | AGRN | c.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 | |
| 1 | g.1050477T= | CA1148751007 | AGRN | c.5027T= (p.Leu1676=) c.4712T= (p.Leu1571=) c.4613T= (p.Leu1538=) c.4154T= (p.Leu1385=) c.3293T= (p.Leu1098=) n.5094T= n.5098T= | |
| 1 | g.1050478C>A | CA415758974 | AGRN | c.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 | |
| 1 | g.1050478C= | CA1148751049 | AGRN | c.5028C= (p.Leu1676=) c.4713C= (p.Leu1571=) c.4614C= (p.Leu1538=) c.4155C= (p.Leu1385=) c.3294C= (p.Leu1098=) n.5095C= n.5099C= | |
| 1 | g.1050478C>G | CA415758975 | AGRN | c.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 | |
| 1 | g.1050478C>T | CA509826 | AGRN | c.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 |
| 1 | g.1050479C>A | CA337779990 | AGRN | c.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 | |
| 1 | g.1050479C>G | CA337779991 | AGRN | c.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 | |
| 1 | g.1050479C>T | CA415758976 | AGRN | c.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 |
| 1 | g.1050480T>A | CA337779993 | AGRN | c.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 | |
| 1 | g.1050480T>C | CA337779995 | AGRN | c.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 | |
| 1 | g.1050480T>G | CA337779997 | AGRN | c.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 | |
| 1 | g.1050481G>A | CA415758978 | AGRN | c.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 | |
| 1 | g.1050481G>C | CA415758979 | AGRN | c.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 | |
| 1 | g.1050481G>T | CA415758980 | AGRN | c.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 |
| 1 | g.1050482C>A | CA337779999 | AGRN | c.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 | |
| 1 | g.1050482C= | CA1148751058 | AGRN | c.5032C= (p.Leu1678=) c.4717C= (p.Leu1573=) c.4618C= (p.Leu1540=) c.4159C= (p.Leu1387=) c.3298C= (p.Leu1100=) n.5099C= n.5103C= | |
| 1 | g.1050482C>G | CA337780001 | AGRN | c.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 | |
| 1 | g.1050482C>T | CA337780003 | AGRN | c.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 |
| 1 | g.1050483T>A | CA337780009 | AGRN | c.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 | |
| 1 | g.1050483T>C | CA337780011 | AGRN | c.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 | |
| 1 | g.1050483T>G | CA337780013 | AGRN | c.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 | |
| 1 | g.1050484C>A | CA415758984 | AGRN | c.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 | |
| 1 | g.1050484C>G | CA415758985 | AGRN | c.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 | |
| 1 | g.1050484C>T | CA415758983 | AGRN | c.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 |
| 1 | g.1050485T>A | CA337780018 | AGRN | c.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 | |
| 1 | g.1050485T>C | CA337780015 | AGRN | c.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 | |
| 1 | g.1050485T>G | CA337780016 | AGRN | c.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 | |
| 1 | g.1050486A>C | CA337780020 | AGRN | c.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 | |
| 1 | g.1050486A>G | CA337780022 | AGRN | c.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 |
| 1 | g.1050486A>T | CA337780024 | AGRN | c.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 | |
| 1 | g.1050487C>A | CA337780026 | AGRN | c.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 |
| 1 | g.1050487C>G | CA337780027 | AGRN | c.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 | |
| 1 | g.1050487C>T | CA415758989 | AGRN | c.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 |