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 |
|---|---|---|---|---|---|
| X | g.108597462_108597471del | CA2697544713 | COL4A5 | c.1673_1682del (p.Gly558GlufsTer?) n.1129_1138del c.1349_1358del (p.Gly450GlufsTer?) c.1688_1697del (p.Gly563GlufsTer?) c.8_17del (p.Gly3GlufsTer?) | ClinVar |
| X | g.108597470G>A | CA258518 | COL4A5 | c.1681G>A (p.Gly561Arg) n.1137G>A c.1357G>A (p.Gly453Arg) c.1696G>A (p.Gly566Arg) c.16G>A (p.Gly6Arg) | ClinVar dbSNP |
| X | g.108597470G>C | CA413845391 | COL4A5 | c.1681G>C (p.Gly561Arg) n.1137G>C c.1357G>C (p.Gly453Arg) c.1696G>C (p.Gly566Arg) c.16G>C (p.Gly6Arg) | |
| X | g.108597470G= | CA2450688374 | COL4A5 | c.1681G= (p.Gly561=) n.1137G= c.1357G= (p.Gly453=) c.1696G= (p.Gly566=) c.16G= (p.Gly6=) | |
| X | g.108597470G>T | CA413845392 | COL4A5 | c.1681G>T (p.Gly561Ter) n.1137G>T c.1357G>T (p.Gly453Ter) c.1696G>T (p.Gly566Ter) c.16G>T (p.Gly6Ter) | |
| X | g.108597471G>A | CA413845394 | COL4A5 | c.1682G>A (p.Gly561Glu) n.1138G>A c.1358G>A (p.Gly453Glu) c.1697G>A (p.Gly566Glu) c.17G>A (p.Gly6Glu) | ClinVar |
| X | g.108597471G>C | CA413845395 | COL4A5 | c.1682G>C (p.Gly561Ala) n.1138G>C c.1358G>C (p.Gly453Ala) c.1697G>C (p.Gly566Ala) c.17G>C (p.Gly6Ala) | |
| X | g.108597471G>T | CA413845393 | COL4A5 | c.1682G>T (p.Gly561Val) n.1138G>T c.1358G>T (p.Gly453Val) c.1697G>T (p.Gly566Val) c.17G>T (p.Gly6Val) | |
| X | g.108597472A= | CA2450688375 | COL4A5 | c.1683A= (p.Gly561=) n.1139A= c.1359A= (p.Gly453=) c.1698A= (p.Gly566=) c.18A= (p.Gly6=) | |
| X | g.108597472A>C | CA517922137 | COL4A5 | c.1683A>C (p.Gly561=) n.1139A>C c.1359A>C (p.Gly453=) c.1698A>C (p.Gly566=) c.18A>C (p.Gly6=) | |
| X | g.108597472A>G | CA517922135 | COL4A5 | c.1683A>G (p.Gly561=) n.1139A>G c.1359A>G (p.Gly453=) c.1698A>G (p.Gly566=) c.18A>G (p.Gly6=) | |
| X | g.108597472A>T | CA517922136 | COL4A5 | c.1683A>T (p.Gly561=) n.1139A>T c.1359A>T (p.Gly453=) c.1698A>T (p.Gly566=) c.18A>T (p.Gly6=) | ClinVar dbSNP |
| X | g.108597473G>A | CA10488784 | COL4A5 | c.1684G>A (p.Glu562Lys) n.1140G>A c.1360G>A (p.Glu454Lys) c.1699G>A (p.Glu567Lys) c.19G>A (p.Glu7Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108597473G>C | CA413845396 | COL4A5 | c.1684G>C (p.Glu562Gln) n.1140G>C c.1360G>C (p.Glu454Gln) c.1699G>C (p.Glu567Gln) c.19G>C (p.Glu7Gln) | |
| X | g.108597473G= | CA2450688376 | COL4A5 | c.1684G= (p.Glu562=) n.1140G= c.1360G= (p.Glu454=) c.1699G= (p.Glu567=) c.19G= (p.Glu7=) | |
| X | g.108597473G>T | CA413845397 | COL4A5 | c.1684G>T (p.Glu562Ter) n.1140G>T c.1360G>T (p.Glu454Ter) c.1699G>T (p.Glu567Ter) c.19G>T (p.Glu7Ter) | |
| X | g.108597474A>C | CA413845398 | COL4A5 | c.1685A>C (p.Glu562Ala) n.1141A>C c.1361A>C (p.Glu454Ala) c.1700A>C (p.Glu567Ala) c.20A>C (p.Glu7Ala) | |
| X | g.108597474A>G | CA413845399 | COL4A5 | c.1685A>G (p.Glu562Gly) n.1141A>G c.1361A>G (p.Glu454Gly) c.1700A>G (p.Glu567Gly) c.20A>G (p.Glu7Gly) | gnomAD v4 |
| X | g.108597474A>T | CA413845400 | COL4A5 | c.1685A>T (p.Glu562Val) n.1141A>T c.1361A>T (p.Glu454Val) c.1700A>T (p.Glu567Val) c.20A>T (p.Glu7Val) | |
| X | g.108597475G>A | CA517922138 | COL4A5 | c.1686G>A (p.Glu562=) n.1142G>A c.1362G>A (p.Glu454=) c.1701G>A (p.Glu567=) c.21G>A (p.Glu7=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.108597475G>C | CA413845401 | COL4A5 | c.1686G>C (p.Glu562Asp) n.1142G>C c.1362G>C (p.Glu454Asp) c.1701G>C (p.Glu567Asp) c.21G>C (p.Glu7Asp) | |
| X | g.108597475G= | CA2450688377 | COL4A5 | c.1686G= (p.Glu562=) n.1142G= c.1362G= (p.Glu454=) c.1701G= (p.Glu567=) c.21G= (p.Glu7=) | |
| X | g.108597475G>T | CA413845402 | COL4A5 | c.1686G>T (p.Glu562Asp) n.1142G>T c.1362G>T (p.Glu454Asp) c.1701G>T (p.Glu567Asp) c.21G>T (p.Glu7Asp) | |
| X | g.108597476T>A | CA413845403 | COL4A5 | c.1687T>A (p.Leu563Met) n.1143T>A c.1363T>A (p.Leu455Met) c.1702T>A (p.Leu568Met) c.22T>A (p.Leu8Met) | |
| X | g.108597476T>C | CA517922139 | COL4A5 | c.1687T>C (p.Leu563=) n.1143T>C c.1363T>C (p.Leu455=) c.1702T>C (p.Leu568=) c.22T>C (p.Leu8=) | ClinVar dbSNP gnomAD v2 |
| X | g.108597476T>G | CA413845404 | COL4A5 | c.1687T>G (p.Leu563Val) n.1143T>G c.1363T>G (p.Leu455Val) c.1702T>G (p.Leu568Val) c.22T>G (p.Leu8Val) | |
| X | g.108597476T= | CA2450688378 | COL4A5 | c.1687T= (p.Leu563=) n.1143T= c.1363T= (p.Leu455=) c.1702T= (p.Leu568=) c.22T= (p.Leu8=) | |
| X | g.108597477T>A | CA413845405 | COL4A5 | c.1688T>A (p.Leu563Ter) n.1144T>A c.1364T>A (p.Leu455Ter) c.1703T>A (p.Leu568Ter) c.23T>A (p.Leu8Ter) | |
| X | g.108597477T>C | CA413845406 | COL4A5 | c.1688T>C (p.Leu563Ser) n.1144T>C c.1364T>C (p.Leu455Ser) c.1703T>C (p.Leu568Ser) c.23T>C (p.Leu8Ser) | |
| X | g.108597477T>G | CA413845407 | COL4A5 | c.1688T>G (p.Leu563Trp) n.1144T>G c.1364T>G (p.Leu455Trp) c.1703T>G (p.Leu568Trp) c.23T>G (p.Leu8Trp) | |
| X | g.108597478G>A | CA517922140 | COL4A5 | c.1689G>A (p.Leu563=) n.1145G>A c.1365G>A (p.Leu455=) c.1704G>A (p.Leu568=) c.24G>A (p.Leu8=) | ClinVar gnomAD v4 |
| X | g.108597478G>C | CA413845409 | COL4A5 | c.1689G>C (p.Leu563Phe) n.1145G>C c.1365G>C (p.Leu455Phe) c.1704G>C (p.Leu568Phe) c.24G>C (p.Leu8Phe) | |
| X | g.108597478G>T | CA413845408 | COL4A5 | c.1689G>T (p.Leu563Phe) n.1145G>T c.1365G>T (p.Leu455Phe) c.1704G>T (p.Leu568Phe) c.24G>T (p.Leu8Phe) | |
| X | g.108597479G>A | CA413845410 | COL4A5 | c.1690G>A (p.Gly564Ser) n.1146G>A c.1366G>A (p.Gly456Ser) c.1705G>A (p.Gly569Ser) c.25G>A (p.Gly9Ser) | gnomAD v4 |
| X | g.108597479G>C | CA10583987 | COL4A5 | c.1690G>C (p.Gly564Arg) n.1146G>C c.1366G>C (p.Gly456Arg) c.1705G>C (p.Gly569Arg) c.25G>C (p.Gly9Arg) | ClinVar dbSNP |
| X | g.108597479G= | CA2450688379 | COL4A5 | c.1690G= (p.Gly564=) n.1146G= c.1366G= (p.Gly456=) c.1705G= (p.Gly569=) c.25G= (p.Gly9=) | |
| X | g.108597479G>T | CA258520 | COL4A5 | c.1690G>T (p.Gly564Cys) n.1146G>T c.1366G>T (p.Gly456Cys) c.1705G>T (p.Gly569Cys) c.25G>T (p.Gly9Cys) | ClinVar dbSNP |
| X | g.108597480G>A | CA413845411 | COL4A5 | c.1691G>A (p.Gly564Asp) n.1147G>A c.1367G>A (p.Gly456Asp) c.1706G>A (p.Gly569Asp) c.26G>A (p.Gly9Asp) | |
| X | g.108597480G>C | CA413845412 | COL4A5 | c.1691G>C (p.Gly564Ala) n.1147G>C c.1367G>C (p.Gly456Ala) c.1706G>C (p.Gly569Ala) c.26G>C (p.Gly9Ala) | |
| X | g.108597480G>T | CA413845413 | COL4A5 | c.1691G>T (p.Gly564Val) n.1147G>T c.1367G>T (p.Gly456Val) c.1706G>T (p.Gly569Val) c.26G>T (p.Gly9Val) | |
| X | g.108597481T>A | CA517922141 | COL4A5 | c.1692T>A (p.Gly564=) n.1148T>A c.1368T>A (p.Gly456=) c.1707T>A (p.Gly569=) c.27T>A (p.Gly9=) | |
| X | g.108597481T>C | CA517922142 | COL4A5 | c.1692T>C (p.Gly564=) n.1148T>C c.1368T>C (p.Gly456=) c.1707T>C (p.Gly569=) c.27T>C (p.Gly9=) | ClinVar dbSNP |
| X | g.108597481T>G | CA517922143 | COL4A5 | c.1692T>G (p.Gly564=) n.1148T>G c.1368T>G (p.Gly456=) c.1707T>G (p.Gly569=) c.27T>G (p.Gly9=) | |
| X | g.108597482T>A | CA413845414 | COL4A5 | c.1693T>A (p.Ser565Thr) n.1149T>A c.1369T>A (p.Ser457Thr) c.1708T>A (p.Ser570Thr) c.28T>A (p.Ser10Thr) | |
| X | g.108597482T>C | CA413845415 | COL4A5 | c.1693T>C (p.Ser565Pro) n.1149T>C c.1369T>C (p.Ser457Pro) c.1708T>C (p.Ser570Pro) c.28T>C (p.Ser10Pro) | |
| X | g.108597482T>G | CA413845416 | COL4A5 | c.1693T>G (p.Ser565Ala) n.1149T>G c.1369T>G (p.Ser457Ala) c.1708T>G (p.Ser570Ala) c.28T>G (p.Ser10Ala) | |
| X | g.108597483C>A | CA413845417 | COL4A5 | c.1694C>A (p.Ser565Tyr) n.1150C>A c.1370C>A (p.Ser457Tyr) c.1709C>A (p.Ser570Tyr) c.29C>A (p.Ser10Tyr) | gnomAD v4 |
| X | g.108597483C>G | CA413845418 | COL4A5 | c.1694C>G (p.Ser565Cys) n.1150C>G c.1370C>G (p.Ser457Cys) c.1709C>G (p.Ser570Cys) c.29C>G (p.Ser10Cys) | |
| X | g.108597483C>T | CA413845419 | COL4A5 | c.1694C>T (p.Ser565Phe) n.1150C>T c.1370C>T (p.Ser457Phe) c.1709C>T (p.Ser570Phe) c.29C>T (p.Ser10Phe) | COSMIC COSMIC |
| X | g.108597484C>A | CA10488785 | COL4A5 | c.1695C>A (p.Ser565=) n.1151C>A c.1371C>A (p.Ser457=) c.1710C>A (p.Ser570=) c.30C>A (p.Ser10=) | dbSNP ExAC gnomAD v2 gnomAD v4 |