WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.1049969G>A | CA509652 | AGRN | c.4811G>A (p.Arg1604His) c.4496G>A (p.Arg1499His) c.4397G>A (p.Arg1466His) c.3938G>A (p.Arg1313His) c.3077G>A (p.Arg1026His) n.4878G>A n.4882G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1049969G>C | CA337779453 | AGRN | c.4811G>C (p.Arg1604Pro) c.4496G>C (p.Arg1499Pro) c.4397G>C (p.Arg1466Pro) c.3938G>C (p.Arg1313Pro) c.3077G>C (p.Arg1026Pro) n.4878G>C n.4882G>C | COSMIC |
| 1 | g.1049969G= | CA1148747705 | AGRN | c.4811G= (p.Arg1604=) c.4496G= (p.Arg1499=) c.4397G= (p.Arg1466=) c.3938G= (p.Arg1313=) c.3077G= (p.Arg1026=) n.4878G= n.4882G= | |
| 1 | g.1049969G>T | CA337779454 | AGRN | c.4811G>T (p.Arg1604Leu) c.4496G>T (p.Arg1499Leu) c.4397G>T (p.Arg1466Leu) c.3938G>T (p.Arg1313Leu) c.3077G>T (p.Arg1026Leu) n.4878G>T n.4882G>T | gnomAD v4 |
| 1 | g.1049970T>A | CA415758808 | AGRN | c.4812T>A (p.Arg1604=) c.4497T>A (p.Arg1499=) c.4398T>A (p.Arg1466=) c.3939T>A (p.Arg1313=) c.3078T>A (p.Arg1026=) n.4879T>A n.4883T>A | |
| 1 | g.1049970T>C | CA415758811 | AGRN | c.4812T>C (p.Arg1604=) c.4497T>C (p.Arg1499=) c.4398T>C (p.Arg1466=) c.3939T>C (p.Arg1313=) c.3078T>C (p.Arg1026=) n.4879T>C n.4883T>C | |
| 1 | g.1049970T>G | CA415758810 | AGRN | c.4812T>G (p.Arg1604=) c.4497T>G (p.Arg1499=) c.4398T>G (p.Arg1466=) c.3939T>G (p.Arg1313=) c.3078T>G (p.Arg1026=) n.4879T>G n.4883T>G | |
| 1 | g.1049971G>A | CA337779455 | AGRN | c.4813G>A (p.Val1605Met) c.4498G>A (p.Val1500Met) c.4399G>A (p.Val1467Met) c.3940G>A (p.Val1314Met) c.3079G>A (p.Val1027Met) n.4880G>A n.4884G>A | |
| 1 | g.1049971G>C | CA337779457 | AGRN | c.4813G>C (p.Val1605Leu) c.4498G>C (p.Val1500Leu) c.4399G>C (p.Val1467Leu) c.3940G>C (p.Val1314Leu) c.3079G>C (p.Val1027Leu) n.4880G>C n.4884G>C | dbSNP |
| 1 | g.1049971G= | CA1148747707 | AGRN | c.4813G= (p.Val1605=) c.4498G= (p.Val1500=) c.4399G= (p.Val1467=) c.3940G= (p.Val1314=) c.3079G= (p.Val1027=) n.4880G= n.4884G= | |
| 1 | g.1049971G>T | CA337779456 | AGRN | c.4813G>T (p.Val1605Leu) c.4498G>T (p.Val1500Leu) c.4399G>T (p.Val1467Leu) c.3940G>T (p.Val1314Leu) c.3079G>T (p.Val1027Leu) n.4880G>T n.4884G>T | |
| 1 | g.1049972T>A | CA337779458 | AGRN | c.4814T>A (p.Val1605Glu) c.4499T>A (p.Val1500Glu) c.4400T>A (p.Val1467Glu) c.3941T>A (p.Val1314Glu) c.3080T>A (p.Val1027Glu) n.4881T>A n.4885T>A | |
| 1 | g.1049972T>C | CA337779459 | AGRN | c.4814T>C (p.Val1605Ala) c.4499T>C (p.Val1500Ala) c.4400T>C (p.Val1467Ala) c.3941T>C (p.Val1314Ala) c.3080T>C (p.Val1027Ala) n.4881T>C n.4885T>C | |
| 1 | g.1049972T>G | CA337779460 | AGRN | c.4814T>G (p.Val1605Gly) c.4499T>G (p.Val1500Gly) c.4400T>G (p.Val1467Gly) c.3941T>G (p.Val1314Gly) c.3080T>G (p.Val1027Gly) n.4881T>G n.4885T>G | |
| 1 | g.1049973G>A | CA415758815 | AGRN | c.4815G>A (p.Val1605=) c.4500G>A (p.Val1500=) c.4401G>A (p.Val1467=) c.3942G>A (p.Val1314=) c.3081G>A (p.Val1027=) n.4882G>A n.4886G>A | |
| 1 | g.1049973G>C | CA415758816 | AGRN | c.4815G>C (p.Val1605=) c.4500G>C (p.Val1500=) c.4401G>C (p.Val1467=) c.3942G>C (p.Val1314=) c.3081G>C (p.Val1027=) n.4882G>C n.4886G>C | |
| 1 | g.1049973G>T | CA415758817 | AGRN | c.4815G>T (p.Val1605=) c.4500G>T (p.Val1500=) c.4401G>T (p.Val1467=) c.3942G>T (p.Val1314=) c.3081G>T (p.Val1027=) n.4882G>T n.4886G>T | |
| 1 | g.1049974C>A | CA337779461 | AGRN | c.4816C>A (p.Leu1606Met) c.4501C>A (p.Leu1501Met) c.4402C>A (p.Leu1468Met) c.3943C>A (p.Leu1315Met) c.3082C>A (p.Leu1028Met) n.4883C>A n.4887C>A | |
| 1 | g.1049974C>G | CA337779462 | AGRN | c.4816C>G (p.Leu1606Val) c.4501C>G (p.Leu1501Val) c.4402C>G (p.Leu1468Val) c.3943C>G (p.Leu1315Val) c.3082C>G (p.Leu1028Val) n.4883C>G n.4887C>G | |
| 1 | g.1049974C>T | CA415758818 | AGRN | c.4816C>T (p.Leu1606=) c.4501C>T (p.Leu1501=) c.4402C>T (p.Leu1468=) c.3943C>T (p.Leu1315=) c.3082C>T (p.Leu1028=) n.4883C>T n.4887C>T | |
| 1 | g.1049975T>A | CA337779463 | AGRN | c.4817T>A (p.Leu1606Gln) c.4502T>A (p.Leu1501Gln) c.4403T>A (p.Leu1468Gln) c.3944T>A (p.Leu1315Gln) c.3083T>A (p.Leu1028Gln) n.4884T>A n.4888T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1049975T>C | CA337779464 | AGRN | c.4817T>C (p.Leu1606Pro) c.4502T>C (p.Leu1501Pro) c.4403T>C (p.Leu1468Pro) c.3944T>C (p.Leu1315Pro) c.3083T>C (p.Leu1028Pro) n.4884T>C n.4888T>C | |
| 1 | g.1049975T>G | CA337779465 | AGRN | c.4817T>G (p.Leu1606Arg) c.4502T>G (p.Leu1501Arg) c.4403T>G (p.Leu1468Arg) c.3944T>G (p.Leu1315Arg) c.3083T>G (p.Leu1028Arg) n.4884T>G n.4888T>G | |
| 1 | g.1049975T= | CA1148747712 | AGRN | c.4817T= (p.Leu1606=) c.4502T= (p.Leu1501=) c.4403T= (p.Leu1468=) c.3944T= (p.Leu1315=) c.3083T= (p.Leu1028=) n.4884T= n.4888T= | |
| 1 | g.1049976G>A | CA415758820 | AGRN | c.4818G>A (p.Leu1606=) c.4503G>A (p.Leu1501=) c.4404G>A (p.Leu1468=) c.3945G>A (p.Leu1315=) c.3084G>A (p.Leu1028=) n.4885G>A n.4889G>A | |
| 1 | g.1049976G>C | CA415758822 | AGRN | c.4818G>C (p.Leu1606=) c.4503G>C (p.Leu1501=) c.4404G>C (p.Leu1468=) c.3945G>C (p.Leu1315=) c.3084G>C (p.Leu1028=) n.4885G>C n.4889G>C | |
| 1 | g.1049976G>T | CA415758824 | AGRN | c.4818G>T (p.Leu1606=) c.4503G>T (p.Leu1501=) c.4404G>T (p.Leu1468=) c.3945G>T (p.Leu1315=) c.3084G>T (p.Leu1028=) n.4885G>T n.4889G>T | |
| 1 | g.1049977C>A | CA337779466 | AGRN | c.4819C>A (p.Pro1607Thr) c.4504C>A (p.Pro1502Thr) c.4405C>A (p.Pro1469Thr) c.3946C>A (p.Pro1316Thr) c.3085C>A (p.Pro1029Thr) n.4886C>A n.4890C>A | |
| 1 | g.1049977C>G | CA337779467 | AGRN | c.4819C>G (p.Pro1607Ala) c.4504C>G (p.Pro1502Ala) c.4405C>G (p.Pro1469Ala) c.3946C>G (p.Pro1316Ala) c.3085C>G (p.Pro1029Ala) n.4886C>G n.4890C>G | gnomAD v4 |
| 1 | g.1049977C>T | CA337779468 | AGRN | c.4819C>T (p.Pro1607Ser) c.4504C>T (p.Pro1502Ser) c.4405C>T (p.Pro1469Ser) c.3946C>T (p.Pro1316Ser) c.3085C>T (p.Pro1029Ser) n.4886C>T n.4890C>T | |
| 1 | g.1049978C>A | CA337779469 | AGRN | c.4820C>A (p.Pro1607His) c.4505C>A (p.Pro1502His) c.4406C>A (p.Pro1469His) c.3947C>A (p.Pro1316His) c.3086C>A (p.Pro1029His) n.4887C>A n.4891C>A | |
| 1 | g.1049978C>G | CA337779471 | AGRN | c.4820C>G (p.Pro1607Arg) c.4505C>G (p.Pro1502Arg) c.4406C>G (p.Pro1469Arg) c.3947C>G (p.Pro1316Arg) c.3086C>G (p.Pro1029Arg) n.4887C>G n.4891C>G | |
| 1 | g.1049978C>T | CA337779470 | AGRN | c.4820C>T (p.Pro1607Leu) c.4505C>T (p.Pro1502Leu) c.4406C>T (p.Pro1469Leu) c.3947C>T (p.Pro1316Leu) c.3086C>T (p.Pro1029Leu) n.4887C>T n.4891C>T | gnomAD v4 |
| 1 | g.1049979C>A | CA415758828 | AGRN | c.4821C>A (p.Pro1607=) c.4506C>A (p.Pro1502=) c.4407C>A (p.Pro1469=) c.3948C>A (p.Pro1316=) c.3087C>A (p.Pro1029=) n.4888C>A n.4892C>A | |
| 1 | g.1049979C= | CA1142308223 | AGRN | c.4821C= (p.Pro1607=) c.4506C= (p.Pro1502=) c.4407C= (p.Pro1469=) c.3948C= (p.Pro1316=) c.3087C= (p.Pro1029=) n.4888C= n.4892C= | |
| 1 | g.1049979C>G | CA415758826 | AGRN | c.4821C>G (p.Pro1607=) c.4506C>G (p.Pro1502=) c.4407C>G (p.Pro1469=) c.3948C>G (p.Pro1316=) c.3087C>G (p.Pro1029=) n.4888C>G n.4892C>G | dbSNP gnomAD v4 |
| 1 | g.1049979C>T | CA509653 | AGRN | c.4821C>T (p.Pro1607=) c.4506C>T (p.Pro1502=) c.4407C>T (p.Pro1469=) c.3948C>T (p.Pro1316=) c.3087C>T (p.Pro1029=) n.4888C>T n.4892C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1049980G>A | CA509654 | AGRN | c.4822G>A (p.Glu1608Lys) c.4507G>A (p.Glu1503Lys) c.4408G>A (p.Glu1470Lys) c.3949G>A (p.Glu1317Lys) c.3088G>A (p.Glu1030Lys) n.4889G>A n.4893G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.1049980G>C | CA337779472 | AGRN | c.4822G>C (p.Glu1608Gln) c.4507G>C (p.Glu1503Gln) c.4408G>C (p.Glu1470Gln) c.3949G>C (p.Glu1317Gln) c.3088G>C (p.Glu1030Gln) n.4889G>C n.4893G>C | COSMIC |
| 1 | g.1049980G= | CA1148747725 | AGRN | c.4822G= (p.Glu1608=) c.4507G= (p.Glu1503=) c.4408G= (p.Glu1470=) c.3949G= (p.Glu1317=) c.3088G= (p.Glu1030=) n.4889G= n.4893G= | |
| 1 | g.1049980G>T | CA337779473 | AGRN | c.4822G>T (p.Glu1608Ter) c.4507G>T (p.Glu1503Ter) c.4408G>T (p.Glu1470Ter) c.3949G>T (p.Glu1317Ter) c.3088G>T (p.Glu1030Ter) n.4889G>T n.4893G>T | gnomAD v4 |
| 1 | g.1049981A>C | CA337779474 | AGRN | c.4823A>C (p.Glu1608Ala) c.4508A>C (p.Glu1503Ala) c.4409A>C (p.Glu1470Ala) c.3950A>C (p.Glu1317Ala) c.3089A>C (p.Glu1030Ala) n.4890A>C n.4894A>C | |
| 1 | g.1049981A>G | CA337779475 | AGRN | c.4823A>G (p.Glu1608Gly) c.4508A>G (p.Glu1503Gly) c.4409A>G (p.Glu1470Gly) c.3950A>G (p.Glu1317Gly) c.3089A>G (p.Glu1030Gly) n.4890A>G n.4894A>G | gnomAD v4 |
| 1 | g.1049981A>T | CA337779476 | AGRN | c.4823A>T (p.Glu1608Val) c.4508A>T (p.Glu1503Val) c.4409A>T (p.Glu1470Val) c.3950A>T (p.Glu1317Val) c.3089A>T (p.Glu1030Val) n.4890A>T n.4894A>T | |
| 1 | g.1049982G>A | CA415758833 | AGRN | c.4824G>A (p.Glu1608=) c.4509G>A (p.Glu1503=) c.4410G>A (p.Glu1470=) c.3951G>A (p.Glu1317=) c.3090G>A (p.Glu1030=) n.4891G>A n.4895G>A | dbSNP |
| 1 | g.1049982G>C | CA337779477 | AGRN | c.4824G>C (p.Glu1608Asp) c.4509G>C (p.Glu1503Asp) c.4410G>C (p.Glu1470Asp) c.3951G>C (p.Glu1317Asp) c.3090G>C (p.Glu1030Asp) n.4891G>C n.4895G>C | |
| 1 | g.1049982G= | CA1148747750 | AGRN | c.4824G= (p.Glu1608=) c.4509G= (p.Glu1503=) c.4410G= (p.Glu1470=) c.3951G= (p.Glu1317=) c.3090G= (p.Glu1030=) n.4891G= n.4895G= | |
| 1 | g.1049982G>T | CA337779478 | AGRN | c.4824G>T (p.Glu1608Asp) c.4509G>T (p.Glu1503Asp) c.4410G>T (p.Glu1470Asp) c.3951G>T (p.Glu1317Asp) c.3090G>T (p.Glu1030Asp) n.4891G>T n.4895G>T | |
| 1 | g.1049983G>A | CA337779479 | AGRN | c.4825G>A (p.Gly1609Ser) c.4510G>A (p.Gly1504Ser) c.4411G>A (p.Gly1471Ser) c.3952G>A (p.Gly1318Ser) c.3091G>A (p.Gly1031Ser) n.4892G>A n.4896G>A | ClinVar dbSNP gnomAD v4 |
| 1 | g.1049983G>C | CA337779481 | AGRN | c.4825G>C (p.Gly1609Arg) c.4510G>C (p.Gly1504Arg) c.4411G>C (p.Gly1471Arg) c.3952G>C (p.Gly1318Arg) c.3091G>C (p.Gly1031Arg) n.4892G>C n.4896G>C |