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 |
|---|---|---|---|---|---|
| 7 | g.107698046del | CA2695198370 | SLC26A4 | c.1549del (p.Ser517LeufsTer29) c.260del n.396del n.398del c.1471del (p.Ser491LeufsTer29) | ClinVar |
| 7 | g.107698046T>A | CA368841449 | SLC26A4 | c.1549T>A (p.Ser517Thr) c.260T>A n.396T>A n.398T>A c.1471T>A (p.Ser491Thr) | |
| 7 | g.107698046T>C | CA368841454 | SLC26A4 | c.1549T>C (p.Ser517Pro) c.260T>C n.396T>C n.398T>C c.1471T>C (p.Ser491Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107698046T>G | CA368841457 | SLC26A4 | c.1549T>G (p.Ser517Ala) c.260T>G n.396T>G n.398T>G c.1471T>G (p.Ser491Ala) | |
| 7 | g.107698046T= | CA1732755236 | SLC26A4 | c.1549T= (p.Ser517=) c.260T= n.396T= n.398T= c.1471T= (p.Ser491=) | |
| 7 | g.107698047C>A | CA368841459 | SLC26A4 | c.1550C>A (p.Ser517Tyr) c.261C>A n.397C>A n.399C>A c.1472C>A (p.Ser491Tyr) | |
| 7 | g.107698047C>G | CA368841461 | SLC26A4 | c.1550C>G (p.Ser517Cys) c.261C>G n.397C>G n.399C>G c.1472C>G (p.Ser491Cys) | |
| 7 | g.107698047C>T | CA368841460 | SLC26A4 | c.1550C>T (p.Ser517Phe) c.261C>T n.397C>T n.399C>T c.1472C>T (p.Ser491Phe) | |
| 7 | g.107698054_107698064dup | CA2695208253 | SLC26A4 | c.1557_1567dup (p.Ser523MetfsTer27) c.268_278dup n.404_414dup n.406_416dup c.1479_1489dup (p.Ser497MetfsTer27) | |
| 7 | g.107698048T>A | CA457098169 | SLC26A4 | c.1551T>A (p.Ser517=) c.262T>A n.398T>A n.400T>A c.1473T>A (p.Ser491=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107698048T>C | CA457098164 | SLC26A4 | c.1551T>C (p.Ser517=) c.262T>C n.398T>C n.400T>C c.1473T>C (p.Ser491=) | |
| 7 | g.107698048T>G | CA457098161 | SLC26A4 | c.1551T>G (p.Ser517=) c.262T>G n.398T>G n.400T>G c.1473T>G (p.Ser491=) | |
| 7 | g.107698048T= | CA1732755240 | SLC26A4 | c.1551T= (p.Ser517=) c.262T= n.398T= n.400T= c.1473T= (p.Ser491=) | |
| 7 | g.107698049T>A | CA368841463 | SLC26A4 | c.1552T>A (p.Trp518Arg) c.263T>A n.399T>A n.401T>A c.1474T>A (p.Trp492Arg) | |
| 7 | g.107698049T>C | CA368841466 | SLC26A4 | c.1552T>C (p.Trp518Arg) c.263T>C n.399T>C n.401T>C c.1474T>C (p.Trp492Arg) | |
| 7 | g.107698049T>G | CA368841465 | SLC26A4 | c.1552T>G (p.Trp518Gly) c.263T>G n.399T>G n.401T>G c.1474T>G (p.Trp492Gly) | ClinVar dbSNP |
| 7 | g.107698050G>A | CA368841475 | SLC26A4 | c.1553G>A (p.Trp518Ter) c.264G>A n.400G>A n.402G>A c.1475G>A (p.Trp492Ter) | |
| 7 | g.107698050G>C | CA368841477 | SLC26A4 | c.1553G>C (p.Trp518Ser) c.264G>C n.400G>C n.402G>C c.1475G>C (p.Trp492Ser) | gnomAD v4 |
| 7 | g.107698050G>T | CA368841478 | SLC26A4 | c.1553G>T (p.Trp518Leu) c.264G>T n.400G>T n.402G>T c.1475G>T (p.Trp492Leu) | |
| 7 | g.107698051G>A | CA273225 | SLC26A4 | c.1554G>A (p.Trp518Ter) c.265G>A n.401G>A n.403G>A c.1476G>A (p.Trp492Ter) | ClinVar dbSNP |
| 7 | g.107698051G>C | CA368841490 | SLC26A4 | c.1554G>C (p.Trp518Cys) c.265G>C n.401G>C n.403G>C c.1476G>C (p.Trp492Cys) | |
| 7 | g.107698051G= | CA1732755246 | SLC26A4 | c.1554G= (p.Trp518=) c.265G= n.401G= n.403G= c.1476G= (p.Trp492=) | |
| 7 | g.107698051G>T | CA368841491 | SLC26A4 | c.1554G>T (p.Trp518Cys) c.265G>T n.401G>T n.403G>T c.1476G>T (p.Trp492Cys) | |
| 7 | g.107698052A>C | CA368841494 | SLC26A4 | c.1555A>C (p.Asn519His) c.266A>C n.402A>C n.404A>C c.1477A>C (p.Asn493His) | |
| 7 | g.107698052A>G | CA368841496 | SLC26A4 | c.1555A>G (p.Asn519Asp) c.266A>G n.402A>G n.404A>G c.1477A>G (p.Asn493Asp) | |
| 7 | g.107698052A>T | CA368841497 | SLC26A4 | c.1555A>T (p.Asn519Tyr) c.266A>T n.402A>T n.404A>T c.1477A>T (p.Asn493Tyr) | |
| 7 | g.107698052_107698053del | CA2695208254 | SLC26A4 | c.1555_1556del (p.Asn519TrpfsTer7) c.266_267del n.402_403del n.404_405del c.1477_1478del (p.Asn493TrpfsTer7) | |
| 7 | g.107698053A>C | CA368841498 | SLC26A4 | c.1556A>C (p.Asn519Thr) c.267A>C n.403A>C n.405A>C c.1478A>C (p.Asn493Thr) | |
| 7 | g.107698053A>G | CA368841499 | SLC26A4 | c.1556A>G (p.Asn519Ser) c.267A>G n.403A>G n.405A>G c.1478A>G (p.Asn493Ser) | |
| 7 | g.107698053A>T | CA368841500 | SLC26A4 | c.1556A>T (p.Asn519Ile) c.267A>T n.403A>T n.405A>T c.1478A>T (p.Asn493Ile) | |
| 7 | g.107698054T>A | CA368841502 | SLC26A4 | c.1557T>A (p.Asn519Lys) c.268T>A n.404T>A n.406T>A c.1479T>A (p.Asn493Lys) | |
| 7 | g.107698054T>C | CA457098206 | SLC26A4 | c.1557T>C (p.Asn519=) c.268T>C n.404T>C n.406T>C c.1479T>C (p.Asn493=) | |
| 7 | g.107698054T>G | CA368841501 | SLC26A4 | c.1557T>G (p.Asn519Lys) c.268T>G n.404T>G n.406T>G c.1479T>G (p.Asn493Lys) | |
| 7 | g.107698055G>A | CA368841504 | SLC26A4 | c.1558G>A (p.Gly520Ser) c.269G>A n.405G>A n.407G>A c.1480G>A (p.Gly494Ser) | |
| 7 | g.107698055G>C | CA368841506 | SLC26A4 | c.1558G>C (p.Gly520Arg) c.269G>C n.405G>C n.407G>C c.1480G>C (p.Gly494Arg) | |
| 7 | g.107698055G>T | CA368841508 | SLC26A4 | c.1558G>T (p.Gly520Cys) c.269G>T n.405G>T n.407G>T c.1480G>T (p.Gly494Cys) | |
| 7 | g.107698056del | CA2578988753 | SLC26A4 | c.1559del (p.Gly520AlafsTer26) c.270del n.406del n.408del c.1481del (p.Gly494AlafsTer26) | |
| 7 | g.107698056G>A | CA368841510 | SLC26A4 | c.1559G>A (p.Gly520Asp) c.270G>A n.406G>A n.408G>A c.1481G>A (p.Gly494Asp) | |
| 7 | g.107698056G>C | CA368841516 | SLC26A4 | c.1559G>C (p.Gly520Ala) c.270G>C n.406G>C n.408G>C c.1481G>C (p.Gly494Ala) | |
| 7 | g.107698056G>T | CA368841517 | SLC26A4 | c.1559G>T (p.Gly520Val) c.270G>T n.406G>T n.408G>T c.1481G>T (p.Gly494Val) | |
| 7 | g.107698057C>A | CA457098229 | SLC26A4 | c.1560C>A (p.Gly520=) c.271C>A n.407C>A n.409C>A c.1482C>A (p.Gly494=) | gnomAD v4 |
| 7 | g.107698057C>G | CA457098232 | SLC26A4 | c.1560C>G (p.Gly520=) c.271C>G n.407C>G n.409C>G c.1482C>G (p.Gly494=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107698057C>T | CA457098236 | SLC26A4 | c.1560C>T (p.Gly520=) c.271C>T n.407C>T n.409C>T c.1482C>T (p.Gly494=) | gnomAD v4 |
| 7 | g.107698058C>A | CA368841520 | SLC26A4 | c.1561C>A (p.Leu521Ile) c.272C>A n.408C>A n.410C>A c.1483C>A (p.Leu495Ile) | |
| 7 | g.107698058C>G | CA368841521 | SLC26A4 | c.1561C>G (p.Leu521Val) c.272C>G n.408C>G n.410C>G c.1483C>G (p.Leu495Val) | |
| 7 | g.107698058C>T | CA368841523 | SLC26A4 | c.1561C>T (p.Leu521Phe) c.272C>T n.408C>T n.410C>T c.1483C>T (p.Leu495Phe) | |
| 7 | g.107698059T>A | CA368841525 | SLC26A4 | c.1562T>A (p.Leu521His) c.273T>A n.409T>A n.411T>A c.1484T>A (p.Leu495His) | |
| 7 | g.107698059T>C | CA368841526 | SLC26A4 | c.1562T>C (p.Leu521Pro) c.273T>C n.409T>C n.411T>C c.1484T>C (p.Leu495Pro) | |
| 7 | g.107698059T>G | CA368841528 | SLC26A4 | c.1562T>G (p.Leu521Arg) c.273T>G n.409T>G n.411T>G c.1484T>G (p.Leu495Arg) | |
| 7 | g.107698060T>A | CA457098261 | SLC26A4 | c.1563T>A (p.Leu521=) c.274T>A n.410T>A n.412T>A c.1485T>A (p.Leu495=) |