UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22259661C>A | CA379922273 | ANO5 | c.1100C>A (p.Thr367Lys) c.1508C>A (p.Thr503Lys) n.2544C>A c.1505C>A (p.Thr502Lys) c.1550C>A (p.Thr517Lys) n.1885C>A c.1547C>A (p.Thr516Lys) c.1472C>A (p.Thr491Lys) c.1469C>A (p.Thr490Lys) c.1457C>A (p.Thr486Lys) | ClinVar gnomAD v4 |
| 11 | g.22259661C= | CA1957418765 | ANO5 | c.1100C= (p.Thr367=) c.1508C= (p.Thr503=) n.2544C= c.1505C= (p.Thr502=) c.1550C= (p.Thr517=) n.1885C= c.1547C= (p.Thr516=) c.1472C= (p.Thr491=) c.1469C= (p.Thr490=) c.1457C= (p.Thr486=) | |
| 11 | g.22259661C>G | CA379922274 | ANO5 | c.1100C>G (p.Thr367Arg) c.1508C>G (p.Thr503Arg) n.2544C>G c.1505C>G (p.Thr502Arg) c.1550C>G (p.Thr517Arg) n.1885C>G c.1547C>G (p.Thr516Arg) c.1472C>G (p.Thr491Arg) c.1469C>G (p.Thr490Arg) c.1457C>G (p.Thr486Arg) | |
| 11 | g.22259661C>T | CA5923277 | ANO5 | c.1100C>T (p.Thr367Ile) c.1508C>T (p.Thr503Ile) n.2544C>T c.1505C>T (p.Thr502Ile) c.1550C>T (p.Thr517Ile) n.1885C>T c.1547C>T (p.Thr516Ile) c.1472C>T (p.Thr491Ile) c.1469C>T (p.Thr490Ile) c.1457C>T (p.Thr486Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.22259662A= | CA1957418766 | ANO5 | c.1101A= (p.Thr367=) c.1509A= (p.Thr503=) n.2545A= c.1506A= (p.Thr502=) c.1551A= (p.Thr517=) n.1886A= c.1548A= (p.Thr516=) c.1473A= (p.Thr491=) c.1470A= (p.Thr490=) c.1458A= (p.Thr486=) | |
| 11 | g.22259662A>C | CA5923278 | ANO5 | c.1101A>C (p.Thr367=) c.1509A>C (p.Thr503=) n.2545A>C c.1506A>C (p.Thr502=) c.1551A>C (p.Thr517=) n.1886A>C c.1548A>C (p.Thr516=) c.1473A>C (p.Thr491=) c.1470A>C (p.Thr490=) c.1458A>C (p.Thr486=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.22259662A>G | CA5923279 | ANO5 | c.1101A>G (p.Thr367=) c.1509A>G (p.Thr503=) n.2545A>G c.1506A>G (p.Thr502=) c.1551A>G (p.Thr517=) n.1886A>G c.1548A>G (p.Thr516=) c.1473A>G (p.Thr491=) c.1470A>G (p.Thr490=) c.1458A>G (p.Thr486=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22259662A>T | CA473405092 | ANO5 | c.1101A>T (p.Thr367=) c.1509A>T (p.Thr503=) n.2545A>T c.1506A>T (p.Thr502=) c.1551A>T (p.Thr517=) n.1886A>T c.1548A>T (p.Thr516=) c.1473A>T (p.Thr491=) c.1470A>T (p.Thr490=) c.1458A>T (p.Thr486=) | |
| 11 | g.22259663G>A | CA379922277 | ANO5 | c.1102G>A (p.Gly368Arg) c.1510G>A (p.Gly504Arg) n.2546G>A c.1507G>A (p.Gly503Arg) c.1552G>A (p.Gly518Arg) n.1887G>A c.1549G>A (p.Gly517Arg) c.1474G>A (p.Gly492Arg) c.1471G>A (p.Gly491Arg) c.1459G>A (p.Gly487Arg) | |
| 11 | g.22259663G>C | CA379922276 | ANO5 | c.1102G>C (p.Gly368Arg) c.1510G>C (p.Gly504Arg) n.2546G>C c.1507G>C (p.Gly503Arg) c.1552G>C (p.Gly518Arg) n.1887G>C c.1549G>C (p.Gly517Arg) c.1474G>C (p.Gly492Arg) c.1471G>C (p.Gly491Arg) c.1459G>C (p.Gly487Arg) | |
| 11 | g.22259663G>T | CA379922275 | ANO5 | c.1102G>T (p.Gly368Ter) c.1510G>T (p.Gly504Ter) n.2546G>T c.1507G>T (p.Gly503Ter) c.1552G>T (p.Gly518Ter) n.1887G>T c.1549G>T (p.Gly517Ter) c.1474G>T (p.Gly492Ter) c.1471G>T (p.Gly491Ter) c.1459G>T (p.Gly487Ter) | |
| 11 | g.22259664G>A | CA379922278 | ANO5 | c.1103G>A (p.Gly368Glu) c.1511G>A (p.Gly504Glu) n.2547G>A c.1508G>A (p.Gly503Glu) c.1553G>A (p.Gly518Glu) n.1888G>A c.1550G>A (p.Gly517Glu) c.1475G>A (p.Gly492Glu) c.1472G>A (p.Gly491Glu) c.1460G>A (p.Gly487Glu) | ClinVar COSMIC |
| 11 | g.22259664G>C | CA5923280 | ANO5 | c.1103G>C (p.Gly368Ala) c.1511G>C (p.Gly504Ala) n.2547G>C c.1508G>C (p.Gly503Ala) c.1553G>C (p.Gly518Ala) n.1888G>C c.1550G>C (p.Gly517Ala) c.1475G>C (p.Gly492Ala) c.1472G>C (p.Gly491Ala) c.1460G>C (p.Gly487Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22259664G= | CA1957418767 | ANO5 | c.1103G= (p.Gly368=) c.1511G= (p.Gly504=) n.2547G= c.1508G= (p.Gly503=) c.1553G= (p.Gly518=) n.1888G= c.1550G= (p.Gly517=) c.1475G= (p.Gly492=) c.1472G= (p.Gly491=) c.1460G= (p.Gly487=) | |
| 11 | g.22259664G>T | CA379922279 | ANO5 | c.1103G>T (p.Gly368Val) c.1511G>T (p.Gly504Val) n.2547G>T c.1508G>T (p.Gly503Val) c.1553G>T (p.Gly518Val) n.1888G>T c.1550G>T (p.Gly517Val) c.1475G>T (p.Gly492Val) c.1472G>T (p.Gly491Val) c.1460G>T (p.Gly487Val) | |
| 11 | g.22259665A>C | CA473405093 | ANO5 | c.1104A>C (p.Gly368=) c.1512A>C (p.Gly504=) n.2548A>C c.1509A>C (p.Gly503=) c.1554A>C (p.Gly518=) n.1889A>C c.1551A>C (p.Gly517=) c.1476A>C (p.Gly492=) c.1473A>C (p.Gly491=) c.1461A>C (p.Gly487=) | |
| 11 | g.22259665A>G | CA473405094 | ANO5 | c.1104A>G (p.Gly368=) c.1512A>G (p.Gly504=) n.2548A>G c.1509A>G (p.Gly503=) c.1554A>G (p.Gly518=) n.1889A>G c.1551A>G (p.Gly517=) c.1476A>G (p.Gly492=) c.1473A>G (p.Gly491=) c.1461A>G (p.Gly487=) | |
| 11 | g.22259665A>T | CA473405095 | ANO5 | c.1104A>T (p.Gly368=) c.1512A>T (p.Gly504=) n.2548A>T c.1509A>T (p.Gly503=) c.1554A>T (p.Gly518=) n.1889A>T c.1551A>T (p.Gly517=) c.1476A>T (p.Gly492=) c.1473A>T (p.Gly491=) c.1461A>T (p.Gly487=) | |
| 11 | g.22259666T>A | CA379922280 | ANO5 | c.1105T>A (p.Ser369Thr) c.1513T>A (p.Ser505Thr) n.2549T>A c.1510T>A (p.Ser504Thr) c.1555T>A (p.Ser519Thr) n.1890T>A c.1552T>A (p.Ser518Thr) c.1477T>A (p.Ser493Thr) c.1474T>A (p.Ser492Thr) c.1462T>A (p.Ser488Thr) | |
| 11 | g.22259666T>C | CA379922281 | ANO5 | c.1105T>C (p.Ser369Pro) c.1513T>C (p.Ser505Pro) n.2549T>C c.1510T>C (p.Ser504Pro) c.1555T>C (p.Ser519Pro) n.1890T>C c.1552T>C (p.Ser518Pro) c.1477T>C (p.Ser493Pro) c.1474T>C (p.Ser492Pro) c.1462T>C (p.Ser488Pro) | |
| 11 | g.22259666T>G | CA379922282 | ANO5 | c.1105T>G (p.Ser369Ala) c.1513T>G (p.Ser505Ala) n.2549T>G c.1510T>G (p.Ser504Ala) c.1555T>G (p.Ser519Ala) n.1890T>G c.1552T>G (p.Ser518Ala) c.1477T>G (p.Ser493Ala) c.1474T>G (p.Ser492Ala) c.1462T>G (p.Ser488Ala) | |
| 11 | g.22259667C>A | CA379922285 | ANO5 | c.1106C>A (p.Ser369Ter) c.1514C>A (p.Ser505Ter) n.2550C>A c.1511C>A (p.Ser504Ter) c.1556C>A (p.Ser519Ter) n.1891C>A c.1553C>A (p.Ser518Ter) c.1478C>A (p.Ser493Ter) c.1475C>A (p.Ser492Ter) c.1463C>A (p.Ser488Ter) | |
| 11 | g.22259667C>G | CA379922283 | ANO5 | c.1106C>G (p.Ser369Ter) c.1514C>G (p.Ser505Ter) n.2550C>G c.1511C>G (p.Ser504Ter) c.1556C>G (p.Ser519Ter) n.1891C>G c.1553C>G (p.Ser518Ter) c.1478C>G (p.Ser493Ter) c.1475C>G (p.Ser492Ter) c.1463C>G (p.Ser488Ter) | |
| 11 | g.22259667C>T | CA379922284 | ANO5 | c.1106C>T (p.Ser369Leu) c.1514C>T (p.Ser505Leu) n.2550C>T c.1511C>T (p.Ser504Leu) c.1556C>T (p.Ser519Leu) n.1891C>T c.1553C>T (p.Ser518Leu) c.1478C>T (p.Ser493Leu) c.1475C>T (p.Ser492Leu) c.1463C>T (p.Ser488Leu) | |
| 11 | g.22259668A>C | CA473405096 | ANO5 | c.1107A>C (p.Ser369=) c.1515A>C (p.Ser505=) n.2551A>C c.1512A>C (p.Ser504=) c.1557A>C (p.Ser519=) n.1892A>C c.1554A>C (p.Ser518=) c.1479A>C (p.Ser493=) c.1476A>C (p.Ser492=) c.1464A>C (p.Ser488=) | |
| 11 | g.22259668A>G | CA473405098 | ANO5 | c.1107A>G (p.Ser369=) c.1515A>G (p.Ser505=) n.2551A>G c.1512A>G (p.Ser504=) c.1557A>G (p.Ser519=) n.1892A>G c.1554A>G (p.Ser518=) c.1479A>G (p.Ser493=) c.1476A>G (p.Ser492=) c.1464A>G (p.Ser488=) | |
| 11 | g.22259668A>T | CA473405097 | ANO5 | c.1107A>T (p.Ser369=) c.1515A>T (p.Ser505=) n.2551A>T c.1512A>T (p.Ser504=) c.1557A>T (p.Ser519=) n.1892A>T c.1554A>T (p.Ser518=) c.1479A>T (p.Ser493=) c.1476A>T (p.Ser492=) c.1464A>T (p.Ser488=) | |
| 11 | g.22259669T>A | CA379922286 | ANO5 | c.1108T>A (p.Cys370Ser) c.1516T>A (p.Cys506Ser) n.2552T>A c.1513T>A (p.Cys505Ser) c.1558T>A (p.Cys520Ser) n.1893T>A c.1555T>A (p.Cys519Ser) c.1480T>A (p.Cys494Ser) c.1477T>A (p.Cys493Ser) c.1465T>A (p.Cys489Ser) | |
| 11 | g.22259669T>C | CA379922287 | ANO5 | c.1108T>C (p.Cys370Arg) c.1516T>C (p.Cys506Arg) n.2552T>C c.1513T>C (p.Cys505Arg) c.1558T>C (p.Cys520Arg) n.1893T>C c.1555T>C (p.Cys519Arg) c.1480T>C (p.Cys494Arg) c.1477T>C (p.Cys493Arg) c.1465T>C (p.Cys489Arg) | |
| 11 | g.22259669T>G | CA379922288 | ANO5 | c.1108T>G (p.Cys370Gly) c.1516T>G (p.Cys506Gly) n.2552T>G c.1513T>G (p.Cys505Gly) c.1558T>G (p.Cys520Gly) n.1893T>G c.1555T>G (p.Cys519Gly) c.1480T>G (p.Cys494Gly) c.1477T>G (p.Cys493Gly) c.1465T>G (p.Cys489Gly) | |
| 11 | g.22259670G>A | CA5923281 | ANO5 | c.1109G>A (p.Cys370Tyr) c.1517G>A (p.Cys506Tyr) n.2553G>A c.1514G>A (p.Cys505Tyr) c.1559G>A (p.Cys520Tyr) n.1894G>A c.1556G>A (p.Cys519Tyr) c.1481G>A (p.Cys494Tyr) c.1478G>A (p.Cys493Tyr) c.1466G>A (p.Cys489Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.22259670G>C | CA379922289 | ANO5 | c.1109G>C (p.Cys370Ser) c.1517G>C (p.Cys506Ser) n.2553G>C c.1514G>C (p.Cys505Ser) c.1559G>C (p.Cys520Ser) n.1894G>C c.1556G>C (p.Cys519Ser) c.1481G>C (p.Cys494Ser) c.1478G>C (p.Cys493Ser) c.1466G>C (p.Cys489Ser) | |
| 11 | g.22259670G= | CA1957418768 | ANO5 | c.1109G= (p.Cys370=) c.1517G= (p.Cys506=) n.2553G= c.1514G= (p.Cys505=) c.1559G= (p.Cys520=) n.1894G= c.1556G= (p.Cys519=) c.1481G= (p.Cys494=) c.1478G= (p.Cys493=) c.1466G= (p.Cys489=) | |
| 11 | g.22259670G>T | CA379922290 | ANO5 | c.1109G>T (p.Cys370Phe) c.1517G>T (p.Cys506Phe) n.2553G>T c.1514G>T (p.Cys505Phe) c.1559G>T (p.Cys520Phe) n.1894G>T c.1556G>T (p.Cys519Phe) c.1481G>T (p.Cys494Phe) c.1478G>T (p.Cys493Phe) c.1466G>T (p.Cys489Phe) | |
| 11 | g.22259671C>A | CA379922291 | ANO5 | c.1110C>A (p.Cys370Ter) c.1518C>A (p.Cys506Ter) n.2554C>A c.1515C>A (p.Cys505Ter) c.1560C>A (p.Cys520Ter) n.1895C>A c.1557C>A (p.Cys519Ter) c.1482C>A (p.Cys494Ter) c.1479C>A (p.Cys493Ter) c.1467C>A (p.Cys489Ter) | |
| 11 | g.22259671C= | CA1957418769 | ANO5 | c.1110C= (p.Cys370=) c.1518C= (p.Cys506=) n.2554C= c.1515C= (p.Cys505=) c.1560C= (p.Cys520=) n.1895C= c.1557C= (p.Cys519=) c.1482C= (p.Cys494=) c.1479C= (p.Cys493=) c.1467C= (p.Cys489=) | |
| 11 | g.22259671C>G | CA379922292 | ANO5 | c.1110C>G (p.Cys370Trp) c.1518C>G (p.Cys506Trp) n.2554C>G c.1515C>G (p.Cys505Trp) c.1560C>G (p.Cys520Trp) n.1895C>G c.1557C>G (p.Cys519Trp) c.1482C>G (p.Cys494Trp) c.1479C>G (p.Cys493Trp) c.1467C>G (p.Cys489Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.22259671C>T | CA473405099 | ANO5 | c.1110C>T (p.Cys370=) c.1518C>T (p.Cys506=) n.2554C>T c.1515C>T (p.Cys505=) c.1560C>T (p.Cys520=) n.1895C>T c.1557C>T (p.Cys519=) c.1482C>T (p.Cys494=) c.1479C>T (p.Cys493=) c.1467C>T (p.Cys489=) | COSMIC |
| 11 | g.22259672T>A | CA379922293 | ANO5 | c.1111T>A (p.Leu371Met) c.1519T>A (p.Leu507Met) n.2555T>A c.1516T>A (p.Leu506Met) c.1561T>A (p.Leu521Met) n.1896T>A c.1558T>A (p.Leu520Met) c.1483T>A (p.Leu495Met) c.1480T>A (p.Leu494Met) c.1468T>A (p.Leu490Met) | |
| 11 | g.22259672T>C | CA473405100 | ANO5 | c.1111T>C (p.Leu371=) c.1519T>C (p.Leu507=) n.2555T>C c.1516T>C (p.Leu506=) c.1561T>C (p.Leu521=) n.1896T>C c.1558T>C (p.Leu520=) c.1483T>C (p.Leu495=) c.1480T>C (p.Leu494=) c.1468T>C (p.Leu490=) | dbSNP |
| 11 | g.22259672T>G | CA379922294 | ANO5 | c.1111T>G (p.Leu371Val) c.1519T>G (p.Leu507Val) n.2555T>G c.1516T>G (p.Leu506Val) c.1561T>G (p.Leu521Val) n.1896T>G c.1558T>G (p.Leu520Val) c.1483T>G (p.Leu495Val) c.1480T>G (p.Leu494Val) c.1468T>G (p.Leu490Val) | |
| 11 | g.22259672T= | CA1957418770 | ANO5 | c.1111T= (p.Leu371=) c.1519T= (p.Leu507=) n.2555T= c.1516T= (p.Leu506=) c.1561T= (p.Leu521=) n.1896T= c.1558T= (p.Leu520=) c.1483T= (p.Leu495=) c.1480T= (p.Leu494=) c.1468T= (p.Leu490=) | |
| 11 | g.22259673T>A | CA379922295 | ANO5 | c.1112T>A (p.Leu371Ter) c.1520T>A (p.Leu507Ter) n.2556T>A c.1517T>A (p.Leu506Ter) c.1562T>A (p.Leu521Ter) n.1897T>A c.1559T>A (p.Leu520Ter) c.1484T>A (p.Leu495Ter) c.1481T>A (p.Leu494Ter) c.1469T>A (p.Leu490Ter) | |
| 11 | g.22259673T>C | CA379922296 | ANO5 | c.1112T>C (p.Leu371Ser) c.1520T>C (p.Leu507Ser) n.2556T>C c.1517T>C (p.Leu506Ser) c.1562T>C (p.Leu521Ser) n.1897T>C c.1559T>C (p.Leu520Ser) c.1484T>C (p.Leu495Ser) c.1481T>C (p.Leu494Ser) c.1469T>C (p.Leu490Ser) | dbSNP |
| 11 | g.22259673T>G | CA379922297 | ANO5 | c.1112T>G (p.Leu371Trp) c.1520T>G (p.Leu507Trp) n.2556T>G c.1517T>G (p.Leu506Trp) c.1562T>G (p.Leu521Trp) n.1897T>G c.1559T>G (p.Leu520Trp) c.1484T>G (p.Leu495Trp) c.1481T>G (p.Leu494Trp) c.1469T>G (p.Leu490Trp) | |
| 11 | g.22259673T= | CA1957418771 | ANO5 | c.1112T= (p.Leu371=) c.1520T= (p.Leu507=) n.2556T= c.1517T= (p.Leu506=) c.1562T= (p.Leu521=) n.1897T= c.1559T= (p.Leu520=) c.1484T= (p.Leu495=) c.1481T= (p.Leu494=) c.1469T= (p.Leu490=) | |
| 11 | g.22259674G>A | CA5923283 | ANO5 | c.1113G>A (p.Leu371=) c.1521G>A (p.Leu507=) n.2557G>A c.1518G>A (p.Leu506=) c.1563G>A (p.Leu521=) n.1898G>A c.1560G>A (p.Leu520=) c.1485G>A (p.Leu495=) c.1482G>A (p.Leu494=) c.1470G>A (p.Leu490=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.22259674G>C | CA379922298 | ANO5 | c.1113G>C (p.Leu371Phe) c.1521G>C (p.Leu507Phe) n.2557G>C c.1518G>C (p.Leu506Phe) c.1563G>C (p.Leu521Phe) n.1898G>C c.1560G>C (p.Leu520Phe) c.1485G>C (p.Leu495Phe) c.1482G>C (p.Leu494Phe) c.1470G>C (p.Leu490Phe) | gnomAD v4 |
| 11 | g.22259674G= | CA1957418772 | ANO5 | c.1113G= (p.Leu371=) c.1521G= (p.Leu507=) n.2557G= c.1518G= (p.Leu506=) c.1563G= (p.Leu521=) n.1898G= c.1560G= (p.Leu520=) c.1485G= (p.Leu495=) c.1482G= (p.Leu494=) c.1470G= (p.Leu490=) | |
| 11 | g.22259674G>T | CA5923282 | ANO5 | c.1113G>T (p.Leu371Phe) c.1521G>T (p.Leu507Phe) n.2557G>T c.1518G>T (p.Leu506Phe) c.1563G>T (p.Leu521Phe) n.1898G>T c.1560G>T (p.Leu520Phe) c.1485G>T (p.Leu495Phe) c.1482G>T (p.Leu494Phe) c.1470G>T (p.Leu490Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |