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.117592037_117592045delinsAGCTATTTT | CA1737394053 | CFTR | c.1870_1878delinsAGCTATTTT (p.Ser624=) c.*1584_*1592delinsAGCTATTTT (n.*1584_*1592delinsAGCTATTTT) c.1687_1695delinsAGCTATTTT (p.Ser563=) c.*170_*178delinsAGCTATTTT (n.*170_*178delinsAGCTATTTT) c.*1694_*1702delinsAGCTATTTT (n.*1694_*1702delinsAGCTATTTT) c.1444_1452delinsAGCTATTTT (p.Ser482=) c.1402-10789_1402-10781delinsAGCTATTTT (n.1402-10789_1402-10781delinsAGCTATTTT) c.1780_1788delinsAGCTATTTT (p.Ser594=) c.1960_1968delinsAGCTATTTT (p.Ser654=) c.1627_1635delinsAGCTATTTT (p.Ser543=) | |
| 7 | g.117592038_117592045del | CA577680762 | CFTR | c.1871_1878del (p.Ser624IlefsTer15) c.*1585_*1592del (n.*1585_*1592del) c.1688_1695del (p.Ser563IlefsTer15) c.*171_*178del (n.*171_*178del) c.*1695_*1702del (n.*1695_*1702del) c.1445_1452del (p.Ser482IlefsTer15) c.1402-10788_1402-10781del (n.1402-10788_1402-10781del) c.1781_1788del (p.Ser594IlefsTer15) c.1961_1968del (p.Ser654IlefsTer15) c.1628_1635del (p.Ser543IlefsTer15) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592039C>A | CA368978549 | CFTR | c.1872C>A (p.Ser624Arg) c.*1586C>A (n.*1586C>A) c.1689C>A (p.Ser563Arg) c.*172C>A (n.*172C>A) c.*1696C>A (n.*1696C>A) c.1446C>A (p.Ser482Arg) c.1402-10787C>A (n.1402-10787C>A) c.1782C>A (p.Ser594Arg) c.1962C>A (p.Ser654Arg) c.1629C>A (p.Ser543Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117592039C= | CA1737394057 | CFTR | c.1872C= (p.Ser624=) c.*1586C= (n.*1586C=) c.1689C= (p.Ser563=) c.*172C= (n.*172C=) c.*1696C= (n.*1696C=) c.1446C= (p.Ser482=) c.1402-10787C= (n.1402-10787C=) c.1782C= (p.Ser594=) c.1962C= (p.Ser654=) c.1629C= (p.Ser543=) | |
| 7 | g.117592039C>G | CA368978548 | CFTR | c.1872C>G (p.Ser624Arg) c.*1586C>G (n.*1586C>G) c.1689C>G (p.Ser563Arg) c.*172C>G (n.*172C>G) c.*1696C>G (n.*1696C>G) c.1446C>G (p.Ser482Arg) c.1402-10787C>G (n.1402-10787C>G) c.1782C>G (p.Ser594Arg) c.1962C>G (p.Ser654Arg) c.1629C>G (p.Ser543Arg) | |
| 7 | g.117592039C>T | CA457448861 | CFTR | c.1872C>T (p.Ser624=) c.*1586C>T (n.*1586C>T) c.1689C>T (p.Ser563=) c.*172C>T (n.*172C>T) c.*1696C>T (n.*1696C>T) c.1446C>T (p.Ser482=) c.1402-10787C>T (n.1402-10787C>T) c.1782C>T (p.Ser594=) c.1962C>T (p.Ser654=) c.1629C>T (p.Ser543=) | |
| 7 | g.117592040T>A | CA4451108 | CFTR | c.1873T>A (p.Tyr625Asn) c.*1587T>A (n.*1587T>A) c.1690T>A (p.Tyr564Asn) c.*173T>A (n.*173T>A) c.*1697T>A (n.*1697T>A) c.1447T>A (p.Tyr483Asn) c.1402-10786T>A (n.1402-10786T>A) c.1783T>A (p.Tyr595Asn) c.1963T>A (p.Tyr655Asn) c.1630T>A (p.Tyr544Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592040T>C | CA368978551 | CFTR | c.1873T>C (p.Tyr625His) c.*1587T>C (n.*1587T>C) c.1690T>C (p.Tyr564His) c.*173T>C (n.*173T>C) c.*1697T>C (n.*1697T>C) c.1447T>C (p.Tyr483His) c.1402-10786T>C (n.1402-10786T>C) c.1783T>C (p.Tyr595His) c.1963T>C (p.Tyr655His) c.1630T>C (p.Tyr544His) | |
| 7 | g.117592040T>G | CA368978553 | CFTR | c.1873T>G (p.Tyr625Asp) c.*1587T>G (n.*1587T>G) c.1690T>G (p.Tyr564Asp) c.*173T>G (n.*173T>G) c.*1697T>G (n.*1697T>G) c.1447T>G (p.Tyr483Asp) c.1402-10786T>G (n.1402-10786T>G) c.1783T>G (p.Tyr595Asp) c.1963T>G (p.Tyr655Asp) c.1630T>G (p.Tyr544Asp) | |
| 7 | g.117592040T= | CA1737394059 | CFTR | c.1873T= (p.Tyr625=) c.*1587T= (n.*1587T=) c.1690T= (p.Tyr564=) c.*173T= (n.*173T=) c.*1697T= (n.*1697T=) c.1447T= (p.Tyr483=) c.1402-10786T= (n.1402-10786T=) c.1783T= (p.Tyr595=) c.1963T= (p.Tyr655=) c.1630T= (p.Tyr544=) | |
| 7 | g.117592041A>C | CA368978555 | CFTR | c.1874A>C (p.Tyr625Ser) c.*1588A>C (n.*1588A>C) c.1691A>C (p.Tyr564Ser) c.*174A>C (n.*174A>C) c.*1698A>C (n.*1698A>C) c.1448A>C (p.Tyr483Ser) c.1402-10785A>C (n.1402-10785A>C) c.1784A>C (p.Tyr595Ser) c.1964A>C (p.Tyr655Ser) c.1631A>C (p.Tyr544Ser) | ClinVar |
| 7 | g.117592041A>G | CA368978557 | CFTR | c.1874A>G (p.Tyr625Cys) c.*1588A>G (n.*1588A>G) c.1691A>G (p.Tyr564Cys) c.*174A>G (n.*174A>G) c.*1698A>G (n.*1698A>G) c.1448A>G (p.Tyr483Cys) c.1402-10785A>G (n.1402-10785A>G) c.1784A>G (p.Tyr595Cys) c.1964A>G (p.Tyr655Cys) c.1631A>G (p.Tyr544Cys) | gnomAD v4 |
| 7 | g.117592041A>T | CA368978559 | CFTR | c.1874A>T (p.Tyr625Phe) c.*1588A>T (n.*1588A>T) c.1691A>T (p.Tyr564Phe) c.*174A>T (n.*174A>T) c.*1698A>T (n.*1698A>T) c.1448A>T (p.Tyr483Phe) c.1402-10785A>T (n.1402-10785A>T) c.1784A>T (p.Tyr595Phe) c.1964A>T (p.Tyr655Phe) c.1631A>T (p.Tyr544Phe) | |
| 7 | g.117592042T>A | CA368978562 | CFTR | c.1875T>A (p.Tyr625Ter) c.*1589T>A (n.*1589T>A) c.1692T>A (p.Tyr564Ter) c.*175T>A (n.*175T>A) c.*1699T>A (n.*1699T>A) c.1449T>A (p.Tyr483Ter) c.1402-10784T>A (n.1402-10784T>A) c.1785T>A (p.Tyr595Ter) c.1965T>A (p.Tyr655Ter) c.1632T>A (p.Tyr544Ter) | |
| 7 | g.117592042T>C | CA457448862 | CFTR | c.1875T>C (p.Tyr625=) c.*1589T>C (n.*1589T>C) c.1692T>C (p.Tyr564=) c.*175T>C (n.*175T>C) c.*1699T>C (n.*1699T>C) c.1449T>C (p.Tyr483=) c.1402-10784T>C (n.1402-10784T>C) c.1785T>C (p.Tyr595=) c.1965T>C (p.Tyr655=) c.1632T>C (p.Tyr544=) | ClinVar dbSNP |
| 7 | g.117592042T>G | CA368978564 | CFTR | c.1875T>G (p.Tyr625Ter) c.*1589T>G (n.*1589T>G) c.1692T>G (p.Tyr564Ter) c.*175T>G (n.*175T>G) c.*1699T>G (n.*1699T>G) c.1449T>G (p.Tyr483Ter) c.1402-10784T>G (n.1402-10784T>G) c.1785T>G (p.Tyr595Ter) c.1965T>G (p.Tyr655Ter) c.1632T>G (p.Tyr544Ter) | |
| 7 | g.117592044_117592046del | CA2684619354 | CFTR | c.1877_1879del (p.Phe626del) c.*1591_*1593del (n.*1591_*1593del) c.1694_1696del (p.Phe565del) c.*177_*179del (n.*177_*179del) c.*1701_*1703del (n.*1701_*1703del) c.1451_1453del (p.Phe484del) c.1402-10782_1402-10780del (n.1402-10782_1402-10780del) c.1787_1789del (p.Phe596del) c.1967_1969del (p.Phe656del) c.1634_1636del (p.Phe545del) | gnomAD v4 |
| 7 | g.117592043T>A | CA368978570 | CFTR | c.1876T>A (p.Phe626Ile) c.*1590T>A (n.*1590T>A) c.1693T>A (p.Phe565Ile) c.*176T>A (n.*176T>A) c.*1700T>A (n.*1700T>A) c.1450T>A (p.Phe484Ile) c.1402-10783T>A (n.1402-10783T>A) c.1786T>A (p.Phe596Ile) c.1966T>A (p.Phe656Ile) c.1633T>A (p.Phe545Ile) | |
| 7 | g.117592043T>C | CA368978572 | CFTR | c.1876T>C (p.Phe626Leu) c.*1590T>C (n.*1590T>C) c.1693T>C (p.Phe565Leu) c.*176T>C (n.*176T>C) c.*1700T>C (n.*1700T>C) c.1450T>C (p.Phe484Leu) c.1402-10783T>C (n.1402-10783T>C) c.1786T>C (p.Phe596Leu) c.1966T>C (p.Phe656Leu) c.1633T>C (p.Phe545Leu) | |
| 7 | g.117592043T>G | CA368978574 | CFTR | c.1876T>G (p.Phe626Val) c.*1590T>G (n.*1590T>G) c.1693T>G (p.Phe565Val) c.*176T>G (n.*176T>G) c.*1700T>G (n.*1700T>G) c.1450T>G (p.Phe484Val) c.1402-10783T>G (n.1402-10783T>G) c.1786T>G (p.Phe596Val) c.1966T>G (p.Phe656Val) c.1633T>G (p.Phe545Val) | |
| 7 | g.117592044T>A | CA368978582 | CFTR | c.1877T>A (p.Phe626Tyr) c.*1591T>A (n.*1591T>A) c.1694T>A (p.Phe565Tyr) c.*177T>A (n.*177T>A) c.*1701T>A (n.*1701T>A) c.1451T>A (p.Phe484Tyr) c.1402-10782T>A (n.1402-10782T>A) c.1787T>A (p.Phe596Tyr) c.1967T>A (p.Phe656Tyr) c.1634T>A (p.Phe545Tyr) | |
| 7 | g.117592044T>C | CA368978580 | CFTR | c.1877T>C (p.Phe626Ser) c.*1591T>C (n.*1591T>C) c.1694T>C (p.Phe565Ser) c.*177T>C (n.*177T>C) c.*1701T>C (n.*1701T>C) c.1451T>C (p.Phe484Ser) c.1402-10782T>C (n.1402-10782T>C) c.1787T>C (p.Phe596Ser) c.1967T>C (p.Phe656Ser) c.1634T>C (p.Phe545Ser) | |
| 7 | g.117592044T>G | CA368978576 | CFTR | c.1877T>G (p.Phe626Cys) c.*1591T>G (n.*1591T>G) c.1694T>G (p.Phe565Cys) c.*177T>G (n.*177T>G) c.*1701T>G (n.*1701T>G) c.1451T>G (p.Phe484Cys) c.1402-10782T>G (n.1402-10782T>G) c.1787T>G (p.Phe596Cys) c.1967T>G (p.Phe656Cys) c.1634T>G (p.Phe545Cys) | |
| 7 | g.117592045T>A | CA368978584 | CFTR | c.1878T>A (p.Phe626Leu) c.*1592T>A (n.*1592T>A) c.1695T>A (p.Phe565Leu) c.*178T>A (n.*178T>A) c.*1702T>A (n.*1702T>A) c.1452T>A (p.Phe484Leu) c.1402-10781T>A (n.1402-10781T>A) c.1788T>A (p.Phe596Leu) c.1968T>A (p.Phe656Leu) c.1635T>A (p.Phe545Leu) | |
| 7 | g.117592045T>C | CA457448863 | CFTR | c.1878T>C (p.Phe626=) c.*1592T>C (n.*1592T>C) c.1695T>C (p.Phe565=) c.*178T>C (n.*178T>C) c.*1702T>C (n.*1702T>C) c.1452T>C (p.Phe484=) c.1402-10781T>C (n.1402-10781T>C) c.1788T>C (p.Phe596=) c.1968T>C (p.Phe656=) c.1635T>C (p.Phe545=) | |
| 7 | g.117592045T>G | CA4451109 | CFTR | c.1878T>G (p.Phe626Leu) c.*1592T>G (n.*1592T>G) c.1695T>G (p.Phe565Leu) c.*178T>G (n.*178T>G) c.*1702T>G (n.*1702T>G) c.1452T>G (p.Phe484Leu) c.1402-10781T>G (n.1402-10781T>G) c.1788T>G (p.Phe596Leu) c.1968T>G (p.Phe656Leu) c.1635T>G (p.Phe545Leu) | dbSNP ExAC gnomAD v2 |
| 7 | g.117592045T= | CA1737394062 | CFTR | c.1878T= (p.Phe626=) c.*1592T= (n.*1592T=) c.1695T= (p.Phe565=) c.*178T= (n.*178T=) c.*1702T= (n.*1702T=) c.1452T= (p.Phe484=) c.1402-10781T= (n.1402-10781T=) c.1788T= (p.Phe596=) c.1968T= (p.Phe656=) c.1635T= (p.Phe545=) | |
| 7 | g.117592046T>A | CA368978588 | CFTR | c.1879T>A (p.Tyr627Asn) c.*1593T>A (n.*1593T>A) c.1696T>A (p.Tyr566Asn) c.*179T>A (n.*179T>A) c.*1703T>A (n.*1703T>A) c.1453T>A (p.Tyr485Asn) c.1402-10780T>A (n.1402-10780T>A) c.1789T>A (p.Tyr597Asn) c.1969T>A (p.Tyr657Asn) c.1636T>A (p.Tyr546Asn) | |
| 7 | g.117592046T>C | CA368978592 | CFTR | c.1879T>C (p.Tyr627His) c.*1593T>C (n.*1593T>C) c.1696T>C (p.Tyr566His) c.*179T>C (n.*179T>C) c.*1703T>C (n.*1703T>C) c.1453T>C (p.Tyr485His) c.1402-10780T>C (n.1402-10780T>C) c.1789T>C (p.Tyr597His) c.1969T>C (p.Tyr657His) c.1636T>C (p.Tyr546His) | |
| 7 | g.117592046T>G | CA368978594 | CFTR | c.1879T>G (p.Tyr627Asp) c.*1593T>G (n.*1593T>G) c.1696T>G (p.Tyr566Asp) c.*179T>G (n.*179T>G) c.*1703T>G (n.*1703T>G) c.1453T>G (p.Tyr485Asp) c.1402-10780T>G (n.1402-10780T>G) c.1789T>G (p.Tyr597Asp) c.1969T>G (p.Tyr657Asp) c.1636T>G (p.Tyr546Asp) | |
| 7 | g.117592047A= | CA1737394065 | CFTR | c.1880A= (p.Tyr627=) c.*1594A= (n.*1594A=) c.1697A= (p.Tyr566=) c.*180A= (n.*180A=) c.*1704A= (n.*1704A=) c.1454A= (p.Tyr485=) c.1402-10779A= (n.1402-10779A=) c.1790A= (p.Tyr597=) c.1970A= (p.Tyr657=) c.1637A= (p.Tyr546=) | |
| 7 | g.117592047A>C | CA368978596 | CFTR | c.1880A>C (p.Tyr627Ser) c.*1594A>C (n.*1594A>C) c.1697A>C (p.Tyr566Ser) c.*180A>C (n.*180A>C) c.*1704A>C (n.*1704A>C) c.1454A>C (p.Tyr485Ser) c.1402-10779A>C (n.1402-10779A>C) c.1790A>C (p.Tyr597Ser) c.1970A>C (p.Tyr657Ser) c.1637A>C (p.Tyr546Ser) | |
| 7 | g.117592047A>G | CA368978597 | CFTR | c.1880A>G (p.Tyr627Cys) c.*1594A>G (n.*1594A>G) c.1697A>G (p.Tyr566Cys) c.*180A>G (n.*180A>G) c.*1704A>G (n.*1704A>G) c.1454A>G (p.Tyr485Cys) c.1402-10779A>G (n.1402-10779A>G) c.1790A>G (p.Tyr597Cys) c.1970A>G (p.Tyr657Cys) c.1637A>G (p.Tyr546Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592047A>T | CA368978598 | CFTR | c.1880A>T (p.Tyr627Phe) c.*1594A>T (n.*1594A>T) c.1697A>T (p.Tyr566Phe) c.*180A>T (n.*180A>T) c.*1704A>T (n.*1704A>T) c.1454A>T (p.Tyr485Phe) c.1402-10779A>T (n.1402-10779A>T) c.1790A>T (p.Tyr597Phe) c.1970A>T (p.Tyr657Phe) c.1637A>T (p.Tyr546Phe) | |
| 7 | g.117592048T>A | CA368978602 | CFTR | c.1881T>A (p.Tyr627Ter) c.*1595T>A (n.*1595T>A) c.1698T>A (p.Tyr566Ter) c.*181T>A (n.*181T>A) c.*1705T>A (n.*1705T>A) c.1455T>A (p.Tyr485Ter) c.1402-10778T>A (n.1402-10778T>A) c.1791T>A (p.Tyr597Ter) c.1971T>A (p.Tyr657Ter) c.1638T>A (p.Tyr546Ter) | |
| 7 | g.117592048T>C | CA457448864 | CFTR | c.1881T>C (p.Tyr627=) c.*1595T>C (n.*1595T>C) c.1698T>C (p.Tyr566=) c.*181T>C (n.*181T>C) c.*1705T>C (n.*1705T>C) c.1455T>C (p.Tyr485=) c.1402-10778T>C (n.1402-10778T>C) c.1791T>C (p.Tyr597=) c.1971T>C (p.Tyr657=) c.1638T>C (p.Tyr546=) | ClinVar |
| 7 | g.117592048T>G | CA368978603 | CFTR | c.1881T>G (p.Tyr627Ter) c.*1595T>G (n.*1595T>G) c.1698T>G (p.Tyr566Ter) c.*181T>G (n.*181T>G) c.*1705T>G (n.*1705T>G) c.1455T>G (p.Tyr485Ter) c.1402-10778T>G (n.1402-10778T>G) c.1791T>G (p.Tyr597Ter) c.1971T>G (p.Tyr657Ter) c.1638T>G (p.Tyr546Ter) | |
| 7 | g.117592049G>A | CA326706 | CFTR | c.1882G>A (p.Gly628Arg) c.*1596G>A (n.*1596G>A) c.1699G>A (p.Gly567Arg) c.*182G>A (n.*182G>A) c.*1706G>A (n.*1706G>A) c.1456G>A (p.Gly486Arg) c.1402-10777G>A (n.1402-10777G>A) c.1792G>A (p.Gly598Arg) c.1972G>A (p.Gly658Arg) c.1639G>A (p.Gly547Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592049G>C | CA326707 | CFTR | c.1882G>C (p.Gly628Arg) c.*1596G>C (n.*1596G>C) c.1699G>C (p.Gly567Arg) c.*182G>C (n.*182G>C) c.*1706G>C (n.*1706G>C) c.1456G>C (p.Gly486Arg) c.1402-10777G>C (n.1402-10777G>C) c.1792G>C (p.Gly598Arg) c.1972G>C (p.Gly658Arg) c.1639G>C (p.Gly547Arg) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592049G= | CA1737394069 | CFTR | c.1882G= (p.Gly628=) c.*1596G= (n.*1596G=) c.1699G= (p.Gly567=) c.*182G= (n.*182G=) c.*1706G= (n.*1706G=) c.1456G= (p.Gly486=) c.1402-10777G= (n.1402-10777G=) c.1792G= (p.Gly598=) c.1972G= (p.Gly658=) c.1639G= (p.Gly547=) | |
| 7 | g.117592049G>T | CA368978610 | CFTR | c.1882G>T (p.Gly628Trp) c.*1596G>T (n.*1596G>T) c.1699G>T (p.Gly567Trp) c.*182G>T (n.*182G>T) c.*1706G>T (n.*1706G>T) c.1456G>T (p.Gly486Trp) c.1402-10777G>T (n.1402-10777G>T) c.1792G>T (p.Gly598Trp) c.1972G>T (p.Gly658Trp) c.1639G>T (p.Gly547Trp) | |
| 7 | g.117592050G>A | CA368978612 | CFTR | c.1883G>A (p.Gly628Glu) c.*1597G>A (n.*1597G>A) c.1700G>A (p.Gly567Glu) c.*183G>A (n.*183G>A) c.*1707G>A (n.*1707G>A) c.1457G>A (p.Gly486Glu) c.1402-10776G>A (n.1402-10776G>A) c.1793G>A (p.Gly598Glu) c.1973G>A (p.Gly658Glu) c.1640G>A (p.Gly547Glu) | |
| 7 | g.117592050G>C | CA368978613 | CFTR | c.1883G>C (p.Gly628Ala) c.*1597G>C (n.*1597G>C) c.1700G>C (p.Gly567Ala) c.*183G>C (n.*183G>C) c.*1707G>C (n.*1707G>C) c.1457G>C (p.Gly486Ala) c.1402-10776G>C (n.1402-10776G>C) c.1793G>C (p.Gly598Ala) c.1973G>C (p.Gly658Ala) c.1640G>C (p.Gly547Ala) | ClinVar dbSNP |
| 7 | g.117592050G= | CA1737394077 | CFTR | c.1883G= (p.Gly628=) c.*1597G= (n.*1597G=) c.1700G= (p.Gly567=) c.*183G= (n.*183G=) c.*1707G= (n.*1707G=) c.1457G= (p.Gly486=) c.1402-10776G= (n.1402-10776G=) c.1793G= (p.Gly598=) c.1973G= (p.Gly658=) c.1640G= (p.Gly547=) | |
| 7 | g.117592050G>T | CA368978611 | CFTR | c.1883G>T (p.Gly628Val) c.*1597G>T (n.*1597G>T) c.1700G>T (p.Gly567Val) c.*183G>T (n.*183G>T) c.*1707G>T (n.*1707G>T) c.1457G>T (p.Gly486Val) c.1402-10776G>T (n.1402-10776G>T) c.1793G>T (p.Gly598Val) c.1973G>T (p.Gly658Val) c.1640G>T (p.Gly547Val) | |
| 7 | g.117592051G>A | CA457448865 | CFTR | c.1884G>A (p.Gly628=) c.*1598G>A (n.*1598G>A) c.1701G>A (p.Gly567=) c.*184G>A (n.*184G>A) c.*1708G>A (n.*1708G>A) c.1458G>A (p.Gly486=) c.1402-10775G>A (n.1402-10775G>A) c.1794G>A (p.Gly598=) c.1974G>A (p.Gly658=) c.1641G>A (p.Gly547=) | COSMIC |