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.117591251_117595608delinsCTACATTTGTACTA | CA2580076490 | CFTR | c.1767-683_2619+550delinsCTACATTTGTACTA c.*1481-683_*2333+550delinsCTACATTTGTACTA c.1584-683_2436+550delinsCTACATTTGTACTA c.*67-683_*919+550delinsCTACATTTGTACTA c.*1591-683_*2443+550delinsCTACATTTGTACTA c.1341-683_2193+550delinsCTACATTTGTACTA c.1402-11575_1402-7218delinsCTACATTTGTACTA (n.1402-11575_1402-7218delinsCTACATTTGTACTA) c.1677-683_2529+550delinsCTACATTTGTACTA c.1857-683_2709+550delinsCTACATTTGTACTA c.1524-683_2376+550delinsCTACATTTGTACTA | ClinVar |
| 7 | g.117591983_117592067delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC | CA1737393925 | CFTR | c.1816_1900delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys606=) c.*1530_*1614delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (n.*1530_*1614delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC) c.1633_1717delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys545=) c.*116_*200delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (n.*116_*200delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC) c.*1640_*1724delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (n.*1640_*1724delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC) c.1390_1474delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys464=) c.1402-10843_1402-10759delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (n.1402-10843_1402-10759delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC) c.1726_1810delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys576=) c.1906_1990delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys636=) c.1573_1657delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys525=) | |
| 7 | g.117591987_117592070dup | CA918111646 | CFTR | c.1820_1903dup (p.Gln634_Asn635insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln) c.*1534_*1617dup (n.*1534_*1617dup) c.1637_1720dup (p.Gln573_Asn574insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln) c.*120_*203dup (n.*120_*203dup) c.*1644_*1727dup (n.*1644_*1727dup) c.1394_1477dup (p.Gln492_Asn493insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln) c.1402-10839_1402-10756dup (n.1402-10839_1402-10756dup) c.1730_1813dup (p.Gln604_Asn605insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln) c.1910_1993dup (p.Gln664_Asn665insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln) c.1577_1660dup (p.Gln553_Asn554insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln) | dbSNP |
| 7 | g.117591987_117592070del | CA325542 | CFTR | c.1820_1903del (p.Met607_Gln634del) c.*1534_*1617del (n.*1534_*1617del) c.1637_1720del (p.Met546_Gln573del) c.*120_*203del (n.*120_*203del) c.*1644_*1727del (n.*1644_*1727del) c.1394_1477del (p.Met465_Gln492del) c.1402-10839_1402-10756del (n.1402-10839_1402-10756del) c.1730_1813del (p.Met577_Gln604del) c.1910_1993del (p.Met637_Gln664del) c.1577_1660del (p.Met526_Gln553del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117592053C>A | CA368978622 | CFTR | c.1886C>A (p.Thr629Lys) c.*1600C>A (n.*1600C>A) c.1703C>A (p.Thr568Lys) c.*186C>A (n.*186C>A) c.*1710C>A (n.*1710C>A) c.1460C>A (p.Thr487Lys) c.1402-10773C>A (n.1402-10773C>A) c.1796C>A (p.Thr599Lys) c.1976C>A (p.Thr659Lys) c.1643C>A (p.Thr548Lys) | |
| 7 | g.117592053C= | CA1737394095 | CFTR | c.1886C= (p.Thr629=) c.*1600C= (n.*1600C=) c.1703C= (p.Thr568=) c.*186C= (n.*186C=) c.*1710C= (n.*1710C=) c.1460C= (p.Thr487=) c.1402-10773C= (n.1402-10773C=) c.1796C= (p.Thr599=) c.1976C= (p.Thr659=) c.1643C= (p.Thr548=) | |
| 7 | g.117592053C>G | CA368978624 | CFTR | c.1886C>G (p.Thr629Arg) c.*1600C>G (n.*1600C>G) c.1703C>G (p.Thr568Arg) c.*186C>G (n.*186C>G) c.*1710C>G (n.*1710C>G) c.1460C>G (p.Thr487Arg) c.1402-10773C>G (n.1402-10773C>G) c.1796C>G (p.Thr599Arg) c.1976C>G (p.Thr659Arg) c.1643C>G (p.Thr548Arg) | |
| 7 | g.117592053C>T | CA368978631 | CFTR | c.1886C>T (p.Thr629Ile) c.*1600C>T (n.*1600C>T) c.1703C>T (p.Thr568Ile) c.*186C>T (n.*186C>T) c.*1710C>T (n.*1710C>T) c.1460C>T (p.Thr487Ile) c.1402-10773C>T (n.1402-10773C>T) c.1796C>T (p.Thr599Ile) c.1976C>T (p.Thr659Ile) c.1643C>T (p.Thr548Ile) | dbSNP |
| 7 | g.117592054A= | CA1737394098 | CFTR | c.1887A= (p.Thr629=) c.*1601A= (n.*1601A=) c.1704A= (p.Thr568=) c.*187A= (n.*187A=) c.*1711A= (n.*1711A=) c.1461A= (p.Thr487=) c.1402-10772A= (n.1402-10772A=) c.1797A= (p.Thr599=) c.1977A= (p.Thr659=) c.1644A= (p.Thr548=) | |
| 7 | g.117592054A>C | CA457448870 | CFTR | c.1887A>C (p.Thr629=) c.*1601A>C (n.*1601A>C) c.1704A>C (p.Thr568=) c.*187A>C (n.*187A>C) c.*1711A>C (n.*1711A>C) c.1461A>C (p.Thr487=) c.1402-10772A>C (n.1402-10772A>C) c.1797A>C (p.Thr599=) c.1977A>C (p.Thr659=) c.1644A>C (p.Thr548=) | |
| 7 | g.117592054A>G | CA457448869 | CFTR | c.1887A>G (p.Thr629=) c.*1601A>G (n.*1601A>G) c.1704A>G (p.Thr568=) c.*187A>G (n.*187A>G) c.*1711A>G (n.*1711A>G) c.1461A>G (p.Thr487=) c.1402-10772A>G (n.1402-10772A>G) c.1797A>G (p.Thr599=) c.1977A>G (p.Thr659=) c.1644A>G (p.Thr548=) | |
| 7 | g.117592054A>T | CA457448868 | CFTR | c.1887A>T (p.Thr629=) c.*1601A>T (n.*1601A>T) c.1704A>T (p.Thr568=) c.*187A>T (n.*187A>T) c.*1711A>T (n.*1711A>T) c.1461A>T (p.Thr487=) c.1402-10772A>T (n.1402-10772A>T) c.1797A>T (p.Thr599=) c.1977A>T (p.Thr659=) c.1644A>T (p.Thr548=) | |
| 7 | g.117592055T>A | CA368978645 | CFTR | c.1888T>A (p.Phe630Ile) c.*1602T>A (n.*1602T>A) c.1705T>A (p.Phe569Ile) c.*188T>A (n.*188T>A) c.*1712T>A (n.*1712T>A) c.1462T>A (p.Phe488Ile) c.1402-10771T>A (n.1402-10771T>A) c.1798T>A (p.Phe600Ile) c.1978T>A (p.Phe660Ile) c.1645T>A (p.Phe549Ile) | |
| 7 | g.117592055T>C | CA368978636 | CFTR | c.1888T>C (p.Phe630Leu) c.*1602T>C (n.*1602T>C) c.1705T>C (p.Phe569Leu) c.*188T>C (n.*188T>C) c.*1712T>C (n.*1712T>C) c.1462T>C (p.Phe488Leu) c.1402-10771T>C (n.1402-10771T>C) c.1798T>C (p.Phe600Leu) c.1978T>C (p.Phe660Leu) c.1645T>C (p.Phe549Leu) | ClinVar |
| 7 | g.117592055T>G | CA368978643 | CFTR | c.1888T>G (p.Phe630Val) c.*1602T>G (n.*1602T>G) c.1705T>G (p.Phe569Val) c.*188T>G (n.*188T>G) c.*1712T>G (n.*1712T>G) c.1462T>G (p.Phe488Val) c.1402-10771T>G (n.1402-10771T>G) c.1798T>G (p.Phe600Val) c.1978T>G (p.Phe660Val) c.1645T>G (p.Phe549Val) | |
| 7 | g.117592058dup | CA4451110 | CFTR | c.1891dup (p.Ser631PhefsTer11) c.*1605dup (n.*1605dup) c.1708dup (p.Ser570PhefsTer11) c.*191dup (n.*191dup) c.*1715dup (n.*1715dup) c.1465dup (p.Ser489PhefsTer11) c.1402-10768dup (n.1402-10768dup) c.1801dup (p.Ser601PhefsTer11) c.1981dup (p.Ser661PhefsTer11) c.1648dup (p.Ser550PhefsTer11) | ClinVar dbSNP ExAC gnomAD v2 |
| 7 | g.117592056T>A | CA368978647 | CFTR | c.1889T>A (p.Phe630Tyr) c.*1603T>A (n.*1603T>A) c.1706T>A (p.Phe569Tyr) c.*189T>A (n.*189T>A) c.*1713T>A (n.*1713T>A) c.1463T>A (p.Phe488Tyr) c.1402-10770T>A (n.1402-10770T>A) c.1799T>A (p.Phe600Tyr) c.1979T>A (p.Phe660Tyr) c.1646T>A (p.Phe549Tyr) | |
| 7 | g.117592056T>C | CA368978648 | CFTR | c.1889T>C (p.Phe630Ser) c.*1603T>C (n.*1603T>C) c.1706T>C (p.Phe569Ser) c.*189T>C (n.*189T>C) c.*1713T>C (n.*1713T>C) c.1463T>C (p.Phe488Ser) c.1402-10770T>C (n.1402-10770T>C) c.1799T>C (p.Phe600Ser) c.1979T>C (p.Phe660Ser) c.1646T>C (p.Phe549Ser) | |
| 7 | g.117592056T>G | CA368978651 | CFTR | c.1889T>G (p.Phe630Cys) c.*1603T>G (n.*1603T>G) c.1706T>G (p.Phe569Cys) c.*189T>G (n.*189T>G) c.*1713T>G (n.*1713T>G) c.1463T>G (p.Phe488Cys) c.1402-10770T>G (n.1402-10770T>G) c.1799T>G (p.Phe600Cys) c.1979T>G (p.Phe660Cys) c.1646T>G (p.Phe549Cys) | |
| 7 | g.117592057T>A | CA368978654 | CFTR | c.1890T>A (p.Phe630Leu) c.*1604T>A (n.*1604T>A) c.1707T>A (p.Phe569Leu) c.*190T>A (n.*190T>A) c.*1714T>A (n.*1714T>A) c.1464T>A (p.Phe488Leu) c.1402-10769T>A (n.1402-10769T>A) c.1800T>A (p.Phe600Leu) c.1980T>A (p.Phe660Leu) c.1647T>A (p.Phe549Leu) | |
| 7 | g.117592057T>C | CA457448871 | CFTR | c.1890T>C (p.Phe630=) c.*1604T>C (n.*1604T>C) c.1707T>C (p.Phe569=) c.*190T>C (n.*190T>C) c.*1714T>C (n.*1714T>C) c.1464T>C (p.Phe488=) c.1402-10769T>C (n.1402-10769T>C) c.1800T>C (p.Phe600=) c.1980T>C (p.Phe660=) c.1647T>C (p.Phe549=) | ClinVar |
| 7 | g.117592057T>G | CA368978657 | CFTR | c.1890T>G (p.Phe630Leu) c.*1604T>G (n.*1604T>G) c.1707T>G (p.Phe569Leu) c.*190T>G (n.*190T>G) c.*1714T>G (n.*1714T>G) c.1464T>G (p.Phe488Leu) c.1402-10769T>G (n.1402-10769T>G) c.1800T>G (p.Phe600Leu) c.1980T>G (p.Phe660Leu) c.1647T>G (p.Phe549Leu) | |
| 7 | g.117592058T>A | CA368978661 | CFTR | c.1891T>A (p.Ser631Thr) c.*1605T>A (n.*1605T>A) c.1708T>A (p.Ser570Thr) c.*191T>A (n.*191T>A) c.*1715T>A (n.*1715T>A) c.1465T>A (p.Ser489Thr) c.1402-10768T>A (n.1402-10768T>A) c.1801T>A (p.Ser601Thr) c.1981T>A (p.Ser661Thr) c.1648T>A (p.Ser550Thr) | |
| 7 | g.117592058T>C | CA368978666 | CFTR | c.1891T>C (p.Ser631Pro) c.*1605T>C (n.*1605T>C) c.1708T>C (p.Ser570Pro) c.*191T>C (n.*191T>C) c.*1715T>C (n.*1715T>C) c.1465T>C (p.Ser489Pro) c.1402-10768T>C (n.1402-10768T>C) c.1801T>C (p.Ser601Pro) c.1981T>C (p.Ser661Pro) c.1648T>C (p.Ser550Pro) | COSMIC |
| 7 | g.117592058T>G | CA368978664 | CFTR | c.1891T>G (p.Ser631Ala) c.*1605T>G (n.*1605T>G) c.1708T>G (p.Ser570Ala) c.*191T>G (n.*191T>G) c.*1715T>G (n.*1715T>G) c.1465T>G (p.Ser489Ala) c.1402-10768T>G (n.1402-10768T>G) c.1801T>G (p.Ser601Ala) c.1981T>G (p.Ser661Ala) c.1648T>G (p.Ser550Ala) | |
| 7 | g.117592059C>A | CA368978670 | CFTR | c.1892C>A (p.Ser631Ter) c.*1606C>A (n.*1606C>A) c.1709C>A (p.Ser570Ter) c.*192C>A (n.*192C>A) c.*1716C>A (n.*1716C>A) c.1466C>A (p.Ser489Ter) c.1402-10767C>A (n.1402-10767C>A) c.1802C>A (p.Ser601Ter) c.1982C>A (p.Ser661Ter) c.1649C>A (p.Ser550Ter) | |
| 7 | g.117592059C>G | CA368978674 | CFTR | c.1892C>G (p.Ser631Ter) c.*1606C>G (n.*1606C>G) c.1709C>G (p.Ser570Ter) c.*192C>G (n.*192C>G) c.*1716C>G (n.*1716C>G) c.1466C>G (p.Ser489Ter) c.1402-10767C>G (n.1402-10767C>G) c.1802C>G (p.Ser601Ter) c.1982C>G (p.Ser661Ter) c.1649C>G (p.Ser550Ter) | |
| 7 | g.117592059C>T | CA368978677 | CFTR | c.1892C>T (p.Ser631Leu) c.*1606C>T (n.*1606C>T) c.1709C>T (p.Ser570Leu) c.*192C>T (n.*192C>T) c.*1716C>T (n.*1716C>T) c.1466C>T (p.Ser489Leu) c.1402-10767C>T (n.1402-10767C>T) c.1802C>T (p.Ser601Leu) c.1982C>T (p.Ser661Leu) c.1649C>T (p.Ser550Leu) | |
| 7 | g.117592060_117592064del | CA2580076505 | CFTR | c.1893_1897del (p.Glu632ProfsTer8) c.*1607_*1611del (n.*1607_*1611del) c.1710_1714del (p.Glu571ProfsTer8) c.*193_*197del (n.*193_*197del) c.*1717_*1721del (n.*1717_*1721del) c.1467_1471del (p.Glu490ProfsTer8) c.1402-10766_1402-10762del (n.1402-10766_1402-10762del) c.1803_1807del (p.Glu602ProfsTer8) c.1983_1987del (p.Glu662ProfsTer8) c.1650_1654del (p.Glu551ProfsTer8) | ClinVar |
| 7 | g.117592060A>C | CA457448872 | CFTR | c.1893A>C (p.Ser631=) c.*1607A>C (n.*1607A>C) c.1710A>C (p.Ser570=) c.*193A>C (n.*193A>C) c.*1717A>C (n.*1717A>C) c.1467A>C (p.Ser489=) c.1402-10766A>C (n.1402-10766A>C) c.1803A>C (p.Ser601=) c.1983A>C (p.Ser661=) c.1650A>C (p.Ser550=) | |
| 7 | g.117592060A>G | CA457448874 | CFTR | c.1893A>G (p.Ser631=) c.*1607A>G (n.*1607A>G) c.1710A>G (p.Ser570=) c.*193A>G (n.*193A>G) c.*1717A>G (n.*1717A>G) c.1467A>G (p.Ser489=) c.1402-10766A>G (n.1402-10766A>G) c.1803A>G (p.Ser601=) c.1983A>G (p.Ser661=) c.1650A>G (p.Ser550=) | |
| 7 | g.117592060A>T | CA457448873 | CFTR | c.1893A>T (p.Ser631=) c.*1607A>T (n.*1607A>T) c.1710A>T (p.Ser570=) c.*193A>T (n.*193A>T) c.*1717A>T (n.*1717A>T) c.1467A>T (p.Ser489=) c.1402-10766A>T (n.1402-10766A>T) c.1803A>T (p.Ser601=) c.1983A>T (p.Ser661=) c.1650A>T (p.Ser550=) | |
| 7 | g.117592061G>A | CA368978681 | CFTR | c.1894G>A (p.Glu632Lys) c.*1608G>A (n.*1608G>A) c.1711G>A (p.Glu571Lys) c.*194G>A (n.*194G>A) c.*1718G>A (n.*1718G>A) c.1468G>A (p.Glu490Lys) c.1402-10765G>A (n.1402-10765G>A) c.1804G>A (p.Glu602Lys) c.1984G>A (p.Glu662Lys) c.1651G>A (p.Glu551Lys) | gnomAD v4 |
| 7 | g.117592061G>C | CA368978683 | CFTR | c.1894G>C (p.Glu632Gln) c.*1608G>C (n.*1608G>C) c.1711G>C (p.Glu571Gln) c.*194G>C (n.*194G>C) c.*1718G>C (n.*1718G>C) c.1468G>C (p.Glu490Gln) c.1402-10765G>C (n.1402-10765G>C) c.1804G>C (p.Glu602Gln) c.1984G>C (p.Glu662Gln) c.1651G>C (p.Glu551Gln) | |
| 7 | g.117592061G>T | CA368978686 | CFTR | c.1894G>T (p.Glu632Ter) c.*1608G>T (n.*1608G>T) c.1711G>T (p.Glu571Ter) c.*194G>T (n.*194G>T) c.*1718G>T (n.*1718G>T) c.1468G>T (p.Glu490Ter) c.1402-10765G>T (n.1402-10765G>T) c.1804G>T (p.Glu602Ter) c.1984G>T (p.Glu662Ter) c.1651G>T (p.Glu551Ter) | |
| 7 | g.117592062A>C | CA368978690 | CFTR | c.1895A>C (p.Glu632Ala) c.*1609A>C (n.*1609A>C) c.1712A>C (p.Glu571Ala) c.*195A>C (n.*195A>C) c.*1719A>C (n.*1719A>C) c.1469A>C (p.Glu490Ala) c.1402-10764A>C (n.1402-10764A>C) c.1805A>C (p.Glu602Ala) c.1985A>C (p.Glu662Ala) c.1652A>C (p.Glu551Ala) | |
| 7 | g.117592062A>G | CA368978694 | CFTR | c.1895A>G (p.Glu632Gly) c.*1609A>G (n.*1609A>G) c.1712A>G (p.Glu571Gly) c.*195A>G (n.*195A>G) c.*1719A>G (n.*1719A>G) c.1469A>G (p.Glu490Gly) c.1402-10764A>G (n.1402-10764A>G) c.1805A>G (p.Glu602Gly) c.1985A>G (p.Glu662Gly) c.1652A>G (p.Glu551Gly) | |
| 7 | g.117592062A>T | CA368978697 | CFTR | c.1895A>T (p.Glu632Val) c.*1609A>T (n.*1609A>T) c.1712A>T (p.Glu571Val) c.*195A>T (n.*195A>T) c.*1719A>T (n.*1719A>T) c.1469A>T (p.Glu490Val) c.1402-10764A>T (n.1402-10764A>T) c.1805A>T (p.Glu602Val) c.1985A>T (p.Glu662Val) c.1652A>T (p.Glu551Val) | |
| 7 | g.117592063A>C | CA368978699 | CFTR | c.1896A>C (p.Glu632Asp) c.*1610A>C (n.*1610A>C) c.1713A>C (p.Glu571Asp) c.*196A>C (n.*196A>C) c.*1720A>C (n.*1720A>C) c.1470A>C (p.Glu490Asp) c.1402-10763A>C (n.1402-10763A>C) c.1806A>C (p.Glu602Asp) c.1986A>C (p.Glu662Asp) c.1653A>C (p.Glu551Asp) | |
| 7 | g.117592063A>G | CA457448875 | CFTR | c.1896A>G (p.Glu632=) c.*1610A>G (n.*1610A>G) c.1713A>G (p.Glu571=) c.*196A>G (n.*196A>G) c.*1720A>G (n.*1720A>G) c.1470A>G (p.Glu490=) c.1402-10763A>G (n.1402-10763A>G) c.1806A>G (p.Glu602=) c.1986A>G (p.Glu662=) c.1653A>G (p.Glu551=) | |
| 7 | g.117592063A>T | CA368978701 | CFTR | c.1896A>T (p.Glu632Asp) c.*1610A>T (n.*1610A>T) c.1713A>T (p.Glu571Asp) c.*196A>T (n.*196A>T) c.*1720A>T (n.*1720A>T) c.1470A>T (p.Glu490Asp) c.1402-10763A>T (n.1402-10763A>T) c.1806A>T (p.Glu602Asp) c.1986A>T (p.Glu662Asp) c.1653A>T (p.Glu551Asp) | |
| 7 | g.117592064C>A | CA326708 | CFTR | c.1897C>A (p.Leu633Ile) c.*1611C>A (n.*1611C>A) c.1714C>A (p.Leu572Ile) c.*197C>A (n.*197C>A) c.*1721C>A (n.*1721C>A) c.1471C>A (p.Leu491Ile) c.1402-10762C>A (n.1402-10762C>A) c.1807C>A (p.Leu603Ile) c.1987C>A (p.Leu663Ile) c.1654C>A (p.Leu552Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592064C= | CA1737394103 | CFTR | c.1897C= (p.Leu633=) c.*1611C= (n.*1611C=) c.1714C= (p.Leu572=) c.*197C= (n.*197C=) c.*1721C= (n.*1721C=) c.1471C= (p.Leu491=) c.1402-10762C= (n.1402-10762C=) c.1807C= (p.Leu603=) c.1987C= (p.Leu663=) c.1654C= (p.Leu552=) | |
| 7 | g.117592064C>G | CA368978706 | CFTR | c.1897C>G (p.Leu633Val) c.*1611C>G (n.*1611C>G) c.1714C>G (p.Leu572Val) c.*197C>G (n.*197C>G) c.*1721C>G (n.*1721C>G) c.1471C>G (p.Leu491Val) c.1402-10762C>G (n.1402-10762C>G) c.1807C>G (p.Leu603Val) c.1987C>G (p.Leu663Val) c.1654C>G (p.Leu552Val) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117592064C>T | CA368978704 | CFTR | c.1897C>T (p.Leu633Phe) c.*1611C>T (n.*1611C>T) c.1714C>T (p.Leu572Phe) c.*197C>T (n.*197C>T) c.*1721C>T (n.*1721C>T) c.1471C>T (p.Leu491Phe) c.1402-10762C>T (n.1402-10762C>T) c.1807C>T (p.Leu603Phe) c.1987C>T (p.Leu663Phe) c.1654C>T (p.Leu552Phe) | |
| 7 | g.117592065T>A | CA368978707 | CFTR | c.1898T>A (p.Leu633His) c.*1612T>A (n.*1612T>A) c.1715T>A (p.Leu572His) c.*198T>A (n.*198T>A) c.*1722T>A (n.*1722T>A) c.1472T>A (p.Leu491His) c.1402-10761T>A (n.1402-10761T>A) c.1808T>A (p.Leu603His) c.1988T>A (p.Leu663His) c.1655T>A (p.Leu552His) | |
| 7 | g.117592065T>C | CA326710 | CFTR | c.1898T>C (p.Leu633Pro) c.*1612T>C (n.*1612T>C) c.1715T>C (p.Leu572Pro) c.*198T>C (n.*198T>C) c.*1722T>C (n.*1722T>C) c.1472T>C (p.Leu491Pro) c.1402-10761T>C (n.1402-10761T>C) c.1808T>C (p.Leu603Pro) c.1988T>C (p.Leu663Pro) c.1655T>C (p.Leu552Pro) | ClinVar dbSNP |
| 7 | g.117592065T>G | CA368978710 | CFTR | c.1898T>G (p.Leu633Arg) c.*1612T>G (n.*1612T>G) c.1715T>G (p.Leu572Arg) c.*198T>G (n.*198T>G) c.*1722T>G (n.*1722T>G) c.1472T>G (p.Leu491Arg) c.1402-10761T>G (n.1402-10761T>G) c.1808T>G (p.Leu603Arg) c.1988T>G (p.Leu663Arg) c.1655T>G (p.Leu552Arg) | |
| 7 | g.117592065T= | CA1737394109 | CFTR | c.1898T= (p.Leu633=) c.*1612T= (n.*1612T=) c.1715T= (p.Leu572=) c.*198T= (n.*198T=) c.*1722T= (n.*1722T=) c.1472T= (p.Leu491=) c.1402-10761T= (n.1402-10761T=) c.1808T= (p.Leu603=) c.1988T= (p.Leu663=) c.1655T= (p.Leu552=) | |
| 7 | g.117592066C>A | CA457448876 | CFTR | c.1899C>A (p.Leu633=) c.*1613C>A (n.*1613C>A) c.1716C>A (p.Leu572=) c.*199C>A (n.*199C>A) c.*1723C>A (n.*1723C>A) c.1473C>A (p.Leu491=) c.1402-10760C>A (n.1402-10760C>A) c.1809C>A (p.Leu603=) c.1989C>A (p.Leu663=) c.1656C>A (p.Leu552=) |