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 |
|---|---|---|---|---|---|
| 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.117592004G>A | CA326697 | CFTR | c.1837G>A (p.Ala613Thr) c.*1551G>A (n.*1551G>A) c.1654G>A (p.Ala552Thr) c.*137G>A (n.*137G>A) c.*1661G>A (n.*1661G>A) c.1411G>A (p.Ala471Thr) c.1402-10822G>A (n.1402-10822G>A) c.1747G>A (p.Ala583Thr) c.1927G>A (p.Ala643Thr) c.1594G>A (p.Ala532Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592004G>C | CA368978283 | CFTR | c.1837G>C (p.Ala613Pro) c.*1551G>C (n.*1551G>C) c.1654G>C (p.Ala552Pro) c.*137G>C (n.*137G>C) c.*1661G>C (n.*1661G>C) c.1411G>C (p.Ala471Pro) c.1402-10822G>C (n.1402-10822G>C) c.1747G>C (p.Ala583Pro) c.1927G>C (p.Ala643Pro) c.1594G>C (p.Ala532Pro) | |
| 7 | g.117592004G= | CA1737393982 | CFTR | c.1837G= (p.Ala613=) c.*1551G= (n.*1551G=) c.1654G= (p.Ala552=) c.*137G= (n.*137G=) c.*1661G= (n.*1661G=) c.1411G= (p.Ala471=) c.1402-10822G= (n.1402-10822G=) c.1747G= (p.Ala583=) c.1927G= (p.Ala643=) c.1594G= (p.Ala532=) | |
| 7 | g.117592004G>T | CA368978285 | CFTR | c.1837G>T (p.Ala613Ser) c.*1551G>T (n.*1551G>T) c.1654G>T (p.Ala552Ser) c.*137G>T (n.*137G>T) c.*1661G>T (n.*1661G>T) c.1411G>T (p.Ala471Ser) c.1402-10822G>T (n.1402-10822G>T) c.1747G>T (p.Ala583Ser) c.1927G>T (p.Ala643Ser) c.1594G>T (p.Ala532Ser) | |
| 7 | g.117592005C>A | CA368978287 | CFTR | c.1838C>A (p.Ala613Asp) c.*1552C>A (n.*1552C>A) c.1655C>A (p.Ala552Asp) c.*138C>A (n.*138C>A) c.*1662C>A (n.*1662C>A) c.1412C>A (p.Ala471Asp) c.1402-10821C>A (n.1402-10821C>A) c.1748C>A (p.Ala583Asp) c.1928C>A (p.Ala643Asp) c.1595C>A (p.Ala532Asp) | gnomAD v4 |
| 7 | g.117592005C>G | CA368978290 | CFTR | c.1838C>G (p.Ala613Gly) c.*1552C>G (n.*1552C>G) c.1655C>G (p.Ala552Gly) c.*138C>G (n.*138C>G) c.*1662C>G (n.*1662C>G) c.1412C>G (p.Ala471Gly) c.1402-10821C>G (n.1402-10821C>G) c.1748C>G (p.Ala583Gly) c.1928C>G (p.Ala643Gly) c.1595C>G (p.Ala532Gly) | |
| 7 | g.117592005C>T | CA368978297 | CFTR | c.1838C>T (p.Ala613Val) c.*1552C>T (n.*1552C>T) c.1655C>T (p.Ala552Val) c.*138C>T (n.*138C>T) c.*1662C>T (n.*1662C>T) c.1412C>T (p.Ala471Val) c.1402-10821C>T (n.1402-10821C>T) c.1748C>T (p.Ala583Val) c.1928C>T (p.Ala643Val) c.1595C>T (p.Ala532Val) | |
| 7 | g.117592006T>A | CA457448842 | CFTR | c.1839T>A (p.Ala613=) c.*1553T>A (n.*1553T>A) c.1656T>A (p.Ala552=) c.*139T>A (n.*139T>A) c.*1663T>A (n.*1663T>A) c.1413T>A (p.Ala471=) c.1402-10820T>A (n.1402-10820T>A) c.1749T>A (p.Ala583=) c.1929T>A (p.Ala643=) c.1596T>A (p.Ala532=) | |
| 7 | g.117592006T>C | CA457448843 | CFTR | c.1839T>C (p.Ala613=) c.*1553T>C (n.*1553T>C) c.1656T>C (p.Ala552=) c.*139T>C (n.*139T>C) c.*1663T>C (n.*1663T>C) c.1413T>C (p.Ala471=) c.1402-10820T>C (n.1402-10820T>C) c.1749T>C (p.Ala583=) c.1929T>C (p.Ala643=) c.1596T>C (p.Ala532=) | |
| 7 | g.117592006T>G | CA457448844 | CFTR | c.1839T>G (p.Ala613=) c.*1553T>G (n.*1553T>G) c.1656T>G (p.Ala552=) c.*139T>G (n.*139T>G) c.*1663T>G (n.*1663T>G) c.1413T>G (p.Ala471=) c.1402-10820T>G (n.1402-10820T>G) c.1749T>G (p.Ala583=) c.1929T>G (p.Ala643=) c.1596T>G (p.Ala532=) | |
| 7 | g.117592007G>A | CA368978302 | CFTR | c.1840G>A (p.Asp614Asn) c.*1554G>A (n.*1554G>A) c.1657G>A (p.Asp553Asn) c.*140G>A (n.*140G>A) c.*1664G>A (n.*1664G>A) c.1414G>A (p.Asp472Asn) c.1402-10819G>A (n.1402-10819G>A) c.1750G>A (p.Asp584Asn) c.1930G>A (p.Asp644Asn) c.1597G>A (p.Asp533Asn) | ClinVar dbSNP |
| 7 | g.117592007G>C | CA368978308 | CFTR | c.1840G>C (p.Asp614His) c.*1554G>C (n.*1554G>C) c.1657G>C (p.Asp553His) c.*140G>C (n.*140G>C) c.*1664G>C (n.*1664G>C) c.1414G>C (p.Asp472His) c.1402-10819G>C (n.1402-10819G>C) c.1750G>C (p.Asp584His) c.1930G>C (p.Asp644His) c.1597G>C (p.Asp533His) | |
| 7 | g.117592007G= | CA1737393991 | CFTR | c.1840G= (p.Asp614=) c.*1554G= (n.*1554G=) c.1657G= (p.Asp553=) c.*140G= (n.*140G=) c.*1664G= (n.*1664G=) c.1414G= (p.Asp472=) c.1402-10819G= (n.1402-10819G=) c.1750G= (p.Asp584=) c.1930G= (p.Asp644=) c.1597G= (p.Asp533=) | |
| 7 | g.117592007G>T | CA326698 | CFTR | c.1840G>T (p.Asp614Tyr) c.*1554G>T (n.*1554G>T) c.1657G>T (p.Asp553Tyr) c.*140G>T (n.*140G>T) c.*1664G>T (n.*1664G>T) c.1414G>T (p.Asp472Tyr) c.1402-10819G>T (n.1402-10819G>T) c.1750G>T (p.Asp584Tyr) c.1930G>T (p.Asp644Tyr) c.1597G>T (p.Asp533Tyr) | dbSNP gnomAD v4 |
| 7 | g.117592008A= | CA1737393996 | CFTR | c.1841A= (p.Asp614=) c.*1555A= (n.*1555A=) c.1658A= (p.Asp553=) c.*141A= (n.*141A=) c.*1665A= (n.*1665A=) c.1415A= (p.Asp472=) c.1402-10818A= (n.1402-10818A=) c.1751A= (p.Asp584=) c.1931A= (p.Asp644=) c.1598A= (p.Asp533=) | |
| 7 | g.117592008A>C | CA368978314 | CFTR | c.1841A>C (p.Asp614Ala) c.*1555A>C (n.*1555A>C) c.1658A>C (p.Asp553Ala) c.*141A>C (n.*141A>C) c.*1665A>C (n.*1665A>C) c.1415A>C (p.Asp472Ala) c.1402-10818A>C (n.1402-10818A>C) c.1751A>C (p.Asp584Ala) c.1931A>C (p.Asp644Ala) c.1598A>C (p.Asp533Ala) | |
| 7 | g.117592008A>G | CA326700 | CFTR | c.1841A>G (p.Asp614Gly) c.*1555A>G (n.*1555A>G) c.1658A>G (p.Asp553Gly) c.*141A>G (n.*141A>G) c.*1665A>G (n.*1665A>G) c.1415A>G (p.Asp472Gly) c.1402-10818A>G (n.1402-10818A>G) c.1751A>G (p.Asp584Gly) c.1931A>G (p.Asp644Gly) c.1598A>G (p.Asp533Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592008A>T | CA368978322 | CFTR | c.1841A>T (p.Asp614Val) c.*1555A>T (n.*1555A>T) c.1658A>T (p.Asp553Val) c.*141A>T (n.*141A>T) c.*1665A>T (n.*1665A>T) c.1415A>T (p.Asp472Val) c.1402-10818A>T (n.1402-10818A>T) c.1751A>T (p.Asp584Val) c.1931A>T (p.Asp644Val) c.1598A>T (p.Asp533Val) | |
| 7 | g.117592009C>A | CA368978339 | CFTR | c.1842C>A (p.Asp614Glu) c.*1556C>A (n.*1556C>A) c.1659C>A (p.Asp553Glu) c.*142C>A (n.*142C>A) c.*1666C>A (n.*1666C>A) c.1416C>A (p.Asp472Glu) c.1402-10817C>A (n.1402-10817C>A) c.1752C>A (p.Asp584Glu) c.1932C>A (p.Asp644Glu) c.1599C>A (p.Asp533Glu) | ClinVar |
| 7 | g.117592009C>G | CA368978346 | CFTR | c.1842C>G (p.Asp614Glu) c.*1556C>G (n.*1556C>G) c.1659C>G (p.Asp553Glu) c.*142C>G (n.*142C>G) c.*1666C>G (n.*1666C>G) c.1416C>G (p.Asp472Glu) c.1402-10817C>G (n.1402-10817C>G) c.1752C>G (p.Asp584Glu) c.1932C>G (p.Asp644Glu) c.1599C>G (p.Asp533Glu) | |
| 7 | g.117592009C>T | CA457448845 | CFTR | c.1842C>T (p.Asp614=) c.*1556C>T (n.*1556C>T) c.1659C>T (p.Asp553=) c.*142C>T (n.*142C>T) c.*1666C>T (n.*1666C>T) c.1416C>T (p.Asp472=) c.1402-10817C>T (n.1402-10817C>T) c.1752C>T (p.Asp584=) c.1932C>T (p.Asp644=) c.1599C>T (p.Asp533=) | |
| 7 | g.117592010A>C | CA368978352 | CFTR | c.1843A>C (p.Lys615Gln) c.*1557A>C (n.*1557A>C) c.1660A>C (p.Lys554Gln) c.*143A>C (n.*143A>C) c.*1667A>C (n.*1667A>C) c.1417A>C (p.Lys473Gln) c.1402-10816A>C (n.1402-10816A>C) c.1753A>C (p.Lys585Gln) c.1933A>C (p.Lys645Gln) c.1600A>C (p.Lys534Gln) | |
| 7 | g.117592010A>G | CA368978357 | CFTR | c.1843A>G (p.Lys615Glu) c.*1557A>G (n.*1557A>G) c.1660A>G (p.Lys554Glu) c.*143A>G (n.*143A>G) c.*1667A>G (n.*1667A>G) c.1417A>G (p.Lys473Glu) c.1402-10816A>G (n.1402-10816A>G) c.1753A>G (p.Lys585Glu) c.1933A>G (p.Lys645Glu) c.1600A>G (p.Lys534Glu) | |
| 7 | g.117592010A>T | CA368978358 | CFTR | c.1843A>T (p.Lys615Ter) c.*1557A>T (n.*1557A>T) c.1660A>T (p.Lys554Ter) c.*143A>T (n.*143A>T) c.*1667A>T (n.*1667A>T) c.1417A>T (p.Lys473Ter) c.1402-10816A>T (n.1402-10816A>T) c.1753A>T (p.Lys585Ter) c.1933A>T (p.Lys645Ter) c.1600A>T (p.Lys534Ter) | |
| 7 | g.117592011A>C | CA368978361 | CFTR | c.1844A>C (p.Lys615Thr) c.*1558A>C (n.*1558A>C) c.1661A>C (p.Lys554Thr) c.*144A>C (n.*144A>C) c.*1668A>C (n.*1668A>C) c.1418A>C (p.Lys473Thr) c.1402-10815A>C (n.1402-10815A>C) c.1754A>C (p.Lys585Thr) c.1934A>C (p.Lys645Thr) c.1601A>C (p.Lys534Thr) | gnomAD v4 |
| 7 | g.117592011A>G | CA368978363 | CFTR | c.1844A>G (p.Lys615Arg) c.*1558A>G (n.*1558A>G) c.1661A>G (p.Lys554Arg) c.*144A>G (n.*144A>G) c.*1668A>G (n.*1668A>G) c.1418A>G (p.Lys473Arg) c.1402-10815A>G (n.1402-10815A>G) c.1754A>G (p.Lys585Arg) c.1934A>G (p.Lys645Arg) c.1601A>G (p.Lys534Arg) | ClinVar |
| 7 | g.117592011A>T | CA368978367 | CFTR | c.1844A>T (p.Lys615Ile) c.*1558A>T (n.*1558A>T) c.1661A>T (p.Lys554Ile) c.*144A>T (n.*144A>T) c.*1668A>T (n.*1668A>T) c.1418A>T (p.Lys473Ile) c.1402-10815A>T (n.1402-10815A>T) c.1754A>T (p.Lys585Ile) c.1934A>T (p.Lys645Ile) c.1601A>T (p.Lys534Ile) | |
| 7 | g.117592012A= | CA1737394002 | CFTR | c.1845A= (p.Lys615=) c.*1559A= (n.*1559A=) c.1662A= (p.Lys554=) c.*145A= (n.*145A=) c.*1669A= (n.*1669A=) c.1419A= (p.Lys473=) c.1402-10814A= (n.1402-10814A=) c.1755A= (p.Lys585=) c.1935A= (p.Lys645=) c.1602A= (p.Lys534=) | |
| 7 | g.117592012A>C | CA368978369 | CFTR | c.1845A>C (p.Lys615Asn) c.*1559A>C (n.*1559A>C) c.1662A>C (p.Lys554Asn) c.*145A>C (n.*145A>C) c.*1669A>C (n.*1669A>C) c.1419A>C (p.Lys473Asn) c.1402-10814A>C (n.1402-10814A>C) c.1755A>C (p.Lys585Asn) c.1935A>C (p.Lys645Asn) c.1602A>C (p.Lys534Asn) | |
| 7 | g.117592012A>G | CA457448846 | CFTR | c.1845A>G (p.Lys615=) c.*1559A>G (n.*1559A>G) c.1662A>G (p.Lys554=) c.*145A>G (n.*145A>G) c.*1669A>G (n.*1669A>G) c.1419A>G (p.Lys473=) c.1402-10814A>G (n.1402-10814A>G) c.1755A>G (p.Lys585=) c.1935A>G (p.Lys645=) c.1602A>G (p.Lys534=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117592012A>T | CA368978372 | CFTR | c.1845A>T (p.Lys615Asn) c.*1559A>T (n.*1559A>T) c.1662A>T (p.Lys554Asn) c.*145A>T (n.*145A>T) c.*1669A>T (n.*1669A>T) c.1419A>T (p.Lys473Asn) c.1402-10814A>T (n.1402-10814A>T) c.1755A>T (p.Lys585Asn) c.1935A>T (p.Lys645Asn) c.1602A>T (p.Lys534Asn) | |
| 7 | g.117592013A= | CA1737394007 | CFTR | c.1846A= (p.Ile616=) c.*1560A= (n.*1560A=) c.1663A= (p.Ile555=) c.*146A= (n.*146A=) c.*1670A= (n.*1670A=) c.1420A= (p.Ile474=) c.1402-10813A= (n.1402-10813A=) c.1756A= (p.Ile586=) c.1936A= (p.Ile646=) c.1603A= (p.Ile535=) | |
| 7 | g.117592013A>C | CA368978375 | CFTR | c.1846A>C (p.Ile616Leu) c.*1560A>C (n.*1560A>C) c.1663A>C (p.Ile555Leu) c.*146A>C (n.*146A>C) c.*1670A>C (n.*1670A>C) c.1420A>C (p.Ile474Leu) c.1402-10813A>C (n.1402-10813A>C) c.1756A>C (p.Ile586Leu) c.1936A>C (p.Ile646Leu) c.1603A>C (p.Ile535Leu) | |
| 7 | g.117592013A>G | CA4451104 | CFTR | c.1846A>G (p.Ile616Val) c.*1560A>G (n.*1560A>G) c.1663A>G (p.Ile555Val) c.*146A>G (n.*146A>G) c.*1670A>G (n.*1670A>G) c.1420A>G (p.Ile474Val) c.1402-10813A>G (n.1402-10813A>G) c.1756A>G (p.Ile586Val) c.1936A>G (p.Ile646Val) c.1603A>G (p.Ile535Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592013A>T | CA368978380 | CFTR | c.1846A>T (p.Ile616Leu) c.*1560A>T (n.*1560A>T) c.1663A>T (p.Ile555Leu) c.*146A>T (n.*146A>T) c.*1670A>T (n.*1670A>T) c.1420A>T (p.Ile474Leu) c.1402-10813A>T (n.1402-10813A>T) c.1756A>T (p.Ile586Leu) c.1936A>T (p.Ile646Leu) c.1603A>T (p.Ile535Leu) | |
| 7 | g.117592014T>A | CA368978385 | CFTR | c.1847T>A (p.Ile616Lys) c.*1561T>A (n.*1561T>A) c.1664T>A (p.Ile555Lys) c.*147T>A (n.*147T>A) c.*1671T>A (n.*1671T>A) c.1421T>A (p.Ile474Lys) c.1402-10812T>A (n.1402-10812T>A) c.1757T>A (p.Ile586Lys) c.1937T>A (p.Ile646Lys) c.1604T>A (p.Ile535Lys) | |
| 7 | g.117592014T>C | CA368978389 | CFTR | c.1847T>C (p.Ile616Thr) c.*1561T>C (n.*1561T>C) c.1664T>C (p.Ile555Thr) c.*147T>C (n.*147T>C) c.*1671T>C (n.*1671T>C) c.1421T>C (p.Ile474Thr) c.1402-10812T>C (n.1402-10812T>C) c.1757T>C (p.Ile586Thr) c.1937T>C (p.Ile646Thr) c.1604T>C (p.Ile535Thr) | gnomAD v4 |
| 7 | g.117592014T>G | CA368978391 | CFTR | c.1847T>G (p.Ile616Arg) c.*1561T>G (n.*1561T>G) c.1664T>G (p.Ile555Arg) c.*147T>G (n.*147T>G) c.*1671T>G (n.*1671T>G) c.1421T>G (p.Ile474Arg) c.1402-10812T>G (n.1402-10812T>G) c.1757T>G (p.Ile586Arg) c.1937T>G (p.Ile646Arg) c.1604T>G (p.Ile535Arg) | |
| 7 | g.117592016_117592018del | CA2580076501 | CFTR | c.1849_1851del (p.Leu617del) c.*1563_*1565del (n.*1563_*1565del) c.1666_1668del (p.Leu556del) c.*149_*151del (n.*149_*151del) c.*1673_*1675del (n.*1673_*1675del) c.1423_1425del (p.Leu475del) c.1402-10810_1402-10808del (n.1402-10810_1402-10808del) c.1759_1761del (p.Leu587del) c.1939_1941del (p.Leu647del) c.1606_1608del (p.Leu536del) | ClinVar |
| 7 | g.117592015A>C | CA457448847 | CFTR | c.1848A>C (p.Ile616=) c.*1562A>C (n.*1562A>C) c.1665A>C (p.Ile555=) c.*148A>C (n.*148A>C) c.*1672A>C (n.*1672A>C) c.1422A>C (p.Ile474=) c.1402-10811A>C (n.1402-10811A>C) c.1758A>C (p.Ile586=) c.1938A>C (p.Ile646=) c.1605A>C (p.Ile535=) | |
| 7 | g.117592015A>G | CA368978394 | CFTR | c.1848A>G (p.Ile616Met) c.*1562A>G (n.*1562A>G) c.1665A>G (p.Ile555Met) c.*148A>G (n.*148A>G) c.*1672A>G (n.*1672A>G) c.1422A>G (p.Ile474Met) c.1402-10811A>G (n.1402-10811A>G) c.1758A>G (p.Ile586Met) c.1938A>G (p.Ile646Met) c.1605A>G (p.Ile535Met) | ClinVar |
| 7 | g.117592015A>T | CA457448848 | CFTR | c.1848A>T (p.Ile616=) c.*1562A>T (n.*1562A>T) c.1665A>T (p.Ile555=) c.*148A>T (n.*148A>T) c.*1672A>T (n.*1672A>T) c.1422A>T (p.Ile474=) c.1402-10811A>T (n.1402-10811A>T) c.1758A>T (p.Ile586=) c.1938A>T (p.Ile646=) c.1605A>T (p.Ile535=) | |
| 7 | g.117592016T>A | CA368978404 | CFTR | c.1849T>A (p.Leu617Ile) c.*1563T>A (n.*1563T>A) c.1666T>A (p.Leu556Ile) c.*149T>A (n.*149T>A) c.*1673T>A (n.*1673T>A) c.1423T>A (p.Leu475Ile) c.1402-10810T>A (n.1402-10810T>A) c.1759T>A (p.Leu587Ile) c.1939T>A (p.Leu647Ile) c.1606T>A (p.Leu536Ile) | |
| 7 | g.117592016T>C | CA457448849 | CFTR | c.1849T>C (p.Leu617=) c.*1563T>C (n.*1563T>C) c.1666T>C (p.Leu556=) c.*149T>C (n.*149T>C) c.*1673T>C (n.*1673T>C) c.1423T>C (p.Leu475=) c.1402-10810T>C (n.1402-10810T>C) c.1759T>C (p.Leu587=) c.1939T>C (p.Leu647=) c.1606T>C (p.Leu536=) | |
| 7 | g.117592016T>G | CA368978407 | CFTR | c.1849T>G (p.Leu617Val) c.*1563T>G (n.*1563T>G) c.1666T>G (p.Leu556Val) c.*149T>G (n.*149T>G) c.*1673T>G (n.*1673T>G) c.1423T>G (p.Leu475Val) c.1402-10810T>G (n.1402-10810T>G) c.1759T>G (p.Leu587Val) c.1939T>G (p.Leu647Val) c.1606T>G (p.Leu536Val) | |
| 7 | g.117592017T>A | CA368978411 | CFTR | c.1850T>A (p.Leu617Ter) c.*1564T>A (n.*1564T>A) c.1667T>A (p.Leu556Ter) c.*150T>A (n.*150T>A) c.*1674T>A (n.*1674T>A) c.1424T>A (p.Leu475Ter) c.1402-10809T>A (n.1402-10809T>A) c.1760T>A (p.Leu587Ter) c.1940T>A (p.Leu647Ter) c.1607T>A (p.Leu536Ter) | |
| 7 | g.117592017T>C | CA368978413 | CFTR | c.1850T>C (p.Leu617Ser) c.*1564T>C (n.*1564T>C) c.1667T>C (p.Leu556Ser) c.*150T>C (n.*150T>C) c.*1674T>C (n.*1674T>C) c.1424T>C (p.Leu475Ser) c.1402-10809T>C (n.1402-10809T>C) c.1760T>C (p.Leu587Ser) c.1940T>C (p.Leu647Ser) c.1607T>C (p.Leu536Ser) | |
| 7 | g.117592017T>G | CA368978414 | CFTR | c.1850T>G (p.Leu617Ter) c.*1564T>G (n.*1564T>G) c.1667T>G (p.Leu556Ter) c.*150T>G (n.*150T>G) c.*1674T>G (n.*1674T>G) c.1424T>G (p.Leu475Ter) c.1402-10809T>G (n.1402-10809T>G) c.1760T>G (p.Leu587Ter) c.1940T>G (p.Leu647Ter) c.1607T>G (p.Leu536Ter) | |
| 7 | g.117592018A= | CA1737394009 | CFTR | c.1851A= (p.Leu617=) c.*1565A= (n.*1565A=) c.1668A= (p.Leu556=) c.*151A= (n.*151A=) c.*1675A= (n.*1675A=) c.1425A= (p.Leu475=) c.1402-10808A= (n.1402-10808A=) c.1761A= (p.Leu587=) c.1941A= (p.Leu647=) c.1608A= (p.Leu536=) | |
| 7 | g.117592018A>C | CA368978418 | CFTR | c.1851A>C (p.Leu617Phe) c.*1565A>C (n.*1565A>C) c.1668A>C (p.Leu556Phe) c.*151A>C (n.*151A>C) c.*1675A>C (n.*1675A>C) c.1425A>C (p.Leu475Phe) c.1402-10808A>C (n.1402-10808A>C) c.1761A>C (p.Leu587Phe) c.1941A>C (p.Leu647Phe) c.1608A>C (p.Leu536Phe) | |
| 7 | g.117592018A>G | CA457448850 | CFTR | c.1851A>G (p.Leu617=) c.*1565A>G (n.*1565A>G) c.1668A>G (p.Leu556=) c.*151A>G (n.*151A>G) c.*1675A>G (n.*1675A>G) c.1425A>G (p.Leu475=) c.1402-10808A>G (n.1402-10808A>G) c.1761A>G (p.Leu587=) c.1941A>G (p.Leu647=) c.1608A>G (p.Leu536=) | |
| 7 | g.117592018A>T | CA4451105 | CFTR | c.1851A>T (p.Leu617Phe) c.*1565A>T (n.*1565A>T) c.1668A>T (p.Leu556Phe) c.*151A>T (n.*151A>T) c.*1675A>T (n.*1675A>T) c.1425A>T (p.Leu475Phe) c.1402-10808A>T (n.1402-10808A>T) c.1761A>T (p.Leu587Phe) c.1941A>T (p.Leu647Phe) c.1608A>T (p.Leu536Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592020_117592030del | CA2695208503 | CFTR | c.1853_1863del (p.Ile618ArgfsTer2) c.*1567_*1577del (n.*1567_*1577del) c.1670_1680del (p.Ile557ArgfsTer2) c.*153_*163del (n.*153_*163del) c.*1677_*1687del (n.*1677_*1687del) c.1427_1437del (p.Ile476ArgfsTer2) c.1402-10806_1402-10796del (n.1402-10806_1402-10796del) c.1763_1773del (p.Ile588ArgfsTer2) c.1943_1953del (p.Ile648ArgfsTer2) c.1610_1620del (p.Ile537ArgfsTer2) | |
| 7 | g.117592019A= | CA1737394013 | CFTR | c.1852A= (p.Ile618=) c.*1566A= (n.*1566A=) c.1669A= (p.Ile557=) c.*152A= (n.*152A=) c.*1676A= (n.*1676A=) c.1426A= (p.Ile476=) c.1402-10807A= (n.1402-10807A=) c.1762A= (p.Ile588=) c.1942A= (p.Ile648=) c.1609A= (p.Ile537=) | |
| 7 | g.117592019A>C | CA368978426 | CFTR | c.1852A>C (p.Ile618Leu) c.*1566A>C (n.*1566A>C) c.1669A>C (p.Ile557Leu) c.*152A>C (n.*152A>C) c.*1676A>C (n.*1676A>C) c.1426A>C (p.Ile476Leu) c.1402-10807A>C (n.1402-10807A>C) c.1762A>C (p.Ile588Leu) c.1942A>C (p.Ile648Leu) c.1609A>C (p.Ile537Leu) | |
| 7 | g.117592019A>G | CA368978430 | CFTR | c.1852A>G (p.Ile618Val) c.*1566A>G (n.*1566A>G) c.1669A>G (p.Ile557Val) c.*152A>G (n.*152A>G) c.*1676A>G (n.*1676A>G) c.1426A>G (p.Ile476Val) c.1402-10807A>G (n.1402-10807A>G) c.1762A>G (p.Ile588Val) c.1942A>G (p.Ile648Val) c.1609A>G (p.Ile537Val) | dbSNP |
| 7 | g.117592019A>T | CA368978428 | CFTR | c.1852A>T (p.Ile618Phe) c.*1566A>T (n.*1566A>T) c.1669A>T (p.Ile557Phe) c.*152A>T (n.*152A>T) c.*1676A>T (n.*1676A>T) c.1426A>T (p.Ile476Phe) c.1402-10807A>T (n.1402-10807A>T) c.1762A>T (p.Ile588Phe) c.1942A>T (p.Ile648Phe) c.1609A>T (p.Ile537Phe) | |
| 7 | g.117592020T>A | CA368978433 | CFTR | c.1853T>A (p.Ile618Asn) c.*1567T>A (n.*1567T>A) c.1670T>A (p.Ile557Asn) c.*153T>A (n.*153T>A) c.*1677T>A (n.*1677T>A) c.1427T>A (p.Ile476Asn) c.1402-10806T>A (n.1402-10806T>A) c.1763T>A (p.Ile588Asn) c.1943T>A (p.Ile648Asn) c.1610T>A (p.Ile537Asn) | |
| 7 | g.117592020T>C | CA221010 | CFTR | c.1853T>C (p.Ile618Thr) c.*1567T>C (n.*1567T>C) c.1670T>C (p.Ile557Thr) c.*153T>C (n.*153T>C) c.*1677T>C (n.*1677T>C) c.1427T>C (p.Ile476Thr) c.1402-10806T>C (n.1402-10806T>C) c.1763T>C (p.Ile588Thr) c.1943T>C (p.Ile648Thr) c.1610T>C (p.Ile537Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592020T>G | CA368978438 | CFTR | c.1853T>G (p.Ile618Ser) c.*1567T>G (n.*1567T>G) c.1670T>G (p.Ile557Ser) c.*153T>G (n.*153T>G) c.*1677T>G (n.*1677T>G) c.1427T>G (p.Ile476Ser) c.1402-10806T>G (n.1402-10806T>G) c.1763T>G (p.Ile588Ser) c.1943T>G (p.Ile648Ser) c.1610T>G (p.Ile537Ser) | |
| 7 | g.117592020T= | CA1737394020 | CFTR | c.1853T= (p.Ile618=) c.*1567T= (n.*1567T=) c.1670T= (p.Ile557=) c.*153T= (n.*153T=) c.*1677T= (n.*1677T=) c.1427T= (p.Ile476=) c.1402-10806T= (n.1402-10806T=) c.1763T= (p.Ile588=) c.1943T= (p.Ile648=) c.1610T= (p.Ile537=) | |
| 7 | g.117592021T>A | CA457448851 | CFTR | c.1854T>A (p.Ile618=) c.*1568T>A (n.*1568T>A) c.1671T>A (p.Ile557=) c.*154T>A (n.*154T>A) c.*1678T>A (n.*1678T>A) c.1428T>A (p.Ile476=) c.1402-10805T>A (n.1402-10805T>A) c.1764T>A (p.Ile588=) c.1944T>A (p.Ile648=) c.1611T>A (p.Ile537=) | |
| 7 | g.117592021T>C | CA457448852 | CFTR | c.1854T>C (p.Ile618=) c.*1568T>C (n.*1568T>C) c.1671T>C (p.Ile557=) c.*154T>C (n.*154T>C) c.*1678T>C (n.*1678T>C) c.1428T>C (p.Ile476=) c.1402-10805T>C (n.1402-10805T>C) c.1764T>C (p.Ile588=) c.1944T>C (p.Ile648=) c.1611T>C (p.Ile537=) | |
| 7 | g.117592021T>G | CA368978442 | CFTR | c.1854T>G (p.Ile618Met) c.*1568T>G (n.*1568T>G) c.1671T>G (p.Ile557Met) c.*154T>G (n.*154T>G) c.*1678T>G (n.*1678T>G) c.1428T>G (p.Ile476Met) c.1402-10805T>G (n.1402-10805T>G) c.1764T>G (p.Ile588Met) c.1944T>G (p.Ile648Met) c.1611T>G (p.Ile537Met) | |
| 7 | g.117592022T>A | CA368978445 | CFTR | c.1855T>A (p.Leu619Met) c.*1569T>A (n.*1569T>A) c.1672T>A (p.Leu558Met) c.*155T>A (n.*155T>A) c.*1679T>A (n.*1679T>A) c.1429T>A (p.Leu477Met) c.1402-10804T>A (n.1402-10804T>A) c.1765T>A (p.Leu589Met) c.1945T>A (p.Leu649Met) c.1612T>A (p.Leu538Met) | |
| 7 | g.117592022T>C | CA457448853 | CFTR | c.1855T>C (p.Leu619=) c.*1569T>C (n.*1569T>C) c.1672T>C (p.Leu558=) c.*155T>C (n.*155T>C) c.*1679T>C (n.*1679T>C) c.1429T>C (p.Leu477=) c.1402-10804T>C (n.1402-10804T>C) c.1765T>C (p.Leu589=) c.1945T>C (p.Leu649=) c.1612T>C (p.Leu538=) | |
| 7 | g.117592022T>G | CA368978448 | CFTR | c.1855T>G (p.Leu619Val) c.*1569T>G (n.*1569T>G) c.1672T>G (p.Leu558Val) c.*155T>G (n.*155T>G) c.*1679T>G (n.*1679T>G) c.1429T>G (p.Leu477Val) c.1402-10804T>G (n.1402-10804T>G) c.1765T>G (p.Leu589Val) c.1945T>G (p.Leu649Val) c.1612T>G (p.Leu538Val) | |
| 7 | g.117592023T>A | CA368978452 | CFTR | c.1856T>A (p.Leu619Ter) c.*1570T>A (n.*1570T>A) c.1673T>A (p.Leu558Ter) c.*156T>A (n.*156T>A) c.*1680T>A (n.*1680T>A) c.1430T>A (p.Leu477Ter) c.1402-10803T>A (n.1402-10803T>A) c.1766T>A (p.Leu589Ter) c.1946T>A (p.Leu649Ter) c.1613T>A (p.Leu538Ter) | |
| 7 | g.117592023T>C | CA326701 | CFTR | c.1856T>C (p.Leu619Ser) c.*1570T>C (n.*1570T>C) c.1673T>C (p.Leu558Ser) c.*156T>C (n.*156T>C) c.*1680T>C (n.*1680T>C) c.1430T>C (p.Leu477Ser) c.1402-10803T>C (n.1402-10803T>C) c.1766T>C (p.Leu589Ser) c.1946T>C (p.Leu649Ser) c.1613T>C (p.Leu538Ser) | ClinVar dbSNP |
| 7 | g.117592023T>G | CA368978459 | CFTR | c.1856T>G (p.Leu619Trp) c.*1570T>G (n.*1570T>G) c.1673T>G (p.Leu558Trp) c.*156T>G (n.*156T>G) c.*1680T>G (n.*1680T>G) c.1430T>G (p.Leu477Trp) c.1402-10803T>G (n.1402-10803T>G) c.1766T>G (p.Leu589Trp) c.1946T>G (p.Leu649Trp) c.1613T>G (p.Leu538Trp) | |
| 7 | g.117592023T= | CA1737394023 | CFTR | c.1856T= (p.Leu619=) c.*1570T= (n.*1570T=) c.1673T= (p.Leu558=) c.*156T= (n.*156T=) c.*1680T= (n.*1680T=) c.1430T= (p.Leu477=) c.1402-10803T= (n.1402-10803T=) c.1766T= (p.Leu589=) c.1946T= (p.Leu649=) c.1613T= (p.Leu538=) | |
| 7 | g.117592024G>A | CA457448854 | CFTR | c.1857G>A (p.Leu619=) c.*1571G>A (n.*1571G>A) c.1674G>A (p.Leu558=) c.*157G>A (n.*157G>A) c.*1681G>A (n.*1681G>A) c.1431G>A (p.Leu477=) c.1402-10802G>A (n.1402-10802G>A) c.1767G>A (p.Leu589=) c.1947G>A (p.Leu649=) c.1614G>A (p.Leu538=) | |
| 7 | g.117592024G>C | CA368978463 | CFTR | c.1857G>C (p.Leu619Phe) c.*1571G>C (n.*1571G>C) c.1674G>C (p.Leu558Phe) c.*157G>C (n.*157G>C) c.*1681G>C (n.*1681G>C) c.1431G>C (p.Leu477Phe) c.1402-10802G>C (n.1402-10802G>C) c.1767G>C (p.Leu589Phe) c.1947G>C (p.Leu649Phe) c.1614G>C (p.Leu538Phe) | |
| 7 | g.117592024G>T | CA368978465 | CFTR | c.1857G>T (p.Leu619Phe) c.*1571G>T (n.*1571G>T) c.1674G>T (p.Leu558Phe) c.*157G>T (n.*157G>T) c.*1681G>T (n.*1681G>T) c.1431G>T (p.Leu477Phe) c.1402-10802G>T (n.1402-10802G>T) c.1767G>T (p.Leu589Phe) c.1947G>T (p.Leu649Phe) c.1614G>T (p.Leu538Phe) | gnomAD v4 |
| 7 | g.117592025C>A | CA368978472 | CFTR | c.1858C>A (p.His620Asn) c.*1572C>A (n.*1572C>A) c.1675C>A (p.His559Asn) c.*158C>A (n.*158C>A) c.*1682C>A (n.*1682C>A) c.1432C>A (p.His478Asn) c.1402-10801C>A (n.1402-10801C>A) c.1768C>A (p.His590Asn) c.1948C>A (p.His650Asn) c.1615C>A (p.His539Asn) | gnomAD v4 |
| 7 | g.117592025C>G | CA368978474 | CFTR | c.1858C>G (p.His620Asp) c.*1572C>G (n.*1572C>G) c.1675C>G (p.His559Asp) c.*158C>G (n.*158C>G) c.*1682C>G (n.*1682C>G) c.1432C>G (p.His478Asp) c.1402-10801C>G (n.1402-10801C>G) c.1768C>G (p.His590Asp) c.1948C>G (p.His650Asp) c.1615C>G (p.His539Asp) | |
| 7 | g.117592025C>T | CA368978469 | CFTR | c.1858C>T (p.His620Tyr) c.*1572C>T (n.*1572C>T) c.1675C>T (p.His559Tyr) c.*158C>T (n.*158C>T) c.*1682C>T (n.*1682C>T) c.1432C>T (p.His478Tyr) c.1402-10801C>T (n.1402-10801C>T) c.1768C>T (p.His590Tyr) c.1948C>T (p.His650Tyr) c.1615C>T (p.His539Tyr) | ClinVar gnomAD v4 |
| 7 | g.117592026A= | CA1737394026 | CFTR | c.1859A= (p.His620=) c.*1573A= (n.*1573A=) c.1676A= (p.His559=) c.*159A= (n.*159A=) c.*1683A= (n.*1683A=) c.1433A= (p.His478=) c.1402-10800A= (n.1402-10800A=) c.1769A= (p.His590=) c.1949A= (p.His650=) c.1616A= (p.His539=) | |
| 7 | g.117592026A>C | CA326702 | CFTR | c.1859A>C (p.His620Pro) c.*1573A>C (n.*1573A>C) c.1676A>C (p.His559Pro) c.*159A>C (n.*159A>C) c.*1683A>C (n.*1683A>C) c.1433A>C (p.His478Pro) c.1402-10800A>C (n.1402-10800A>C) c.1769A>C (p.His590Pro) c.1949A>C (p.His650Pro) c.1616A>C (p.His539Pro) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592026A>G | CA4451106 | CFTR | c.1859A>G (p.His620Arg) c.*1573A>G (n.*1573A>G) c.1676A>G (p.His559Arg) c.*159A>G (n.*159A>G) c.*1683A>G (n.*1683A>G) c.1433A>G (p.His478Arg) c.1402-10800A>G (n.1402-10800A>G) c.1769A>G (p.His590Arg) c.1949A>G (p.His650Arg) c.1616A>G (p.His539Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592026A>T | CA4451107 | CFTR | c.1859A>T (p.His620Leu) c.*1573A>T (n.*1573A>T) c.1676A>T (p.His559Leu) c.*159A>T (n.*159A>T) c.*1683A>T (n.*1683A>T) c.1433A>T (p.His478Leu) c.1402-10800A>T (n.1402-10800A>T) c.1769A>T (p.His590Leu) c.1949A>T (p.His650Leu) c.1616A>T (p.His539Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592027T>A | CA368978481 | CFTR | c.1860T>A (p.His620Gln) c.*1574T>A (n.*1574T>A) c.1677T>A (p.His559Gln) c.*160T>A (n.*160T>A) c.*1684T>A (n.*1684T>A) c.1434T>A (p.His478Gln) c.1402-10799T>A (n.1402-10799T>A) c.1770T>A (p.His590Gln) c.1950T>A (p.His650Gln) c.1617T>A (p.His539Gln) | |
| 7 | g.117592027T>C | CA457448855 | CFTR | c.1860T>C (p.His620=) c.*1574T>C (n.*1574T>C) c.1677T>C (p.His559=) c.*160T>C (n.*160T>C) c.*1684T>C (n.*1684T>C) c.1434T>C (p.His478=) c.1402-10799T>C (n.1402-10799T>C) c.1770T>C (p.His590=) c.1950T>C (p.His650=) c.1617T>C (p.His539=) | ClinVar dbSNP |
| 7 | g.117592027T>G | CA326703 | CFTR | c.1860T>G (p.His620Gln) c.*1574T>G (n.*1574T>G) c.1677T>G (p.His559Gln) c.*160T>G (n.*160T>G) c.*1684T>G (n.*1684T>G) c.1434T>G (p.His478Gln) c.1402-10799T>G (n.1402-10799T>G) c.1770T>G (p.His590Gln) c.1950T>G (p.His650Gln) c.1617T>G (p.His539Gln) | ClinVar dbSNP |
| 7 | g.117592027T= | CA1737394035 | CFTR | c.1860T= (p.His620=) c.*1574T= (n.*1574T=) c.1677T= (p.His559=) c.*160T= (n.*160T=) c.*1684T= (n.*1684T=) c.1434T= (p.His478=) c.1402-10799T= (n.1402-10799T=) c.1770T= (p.His590=) c.1950T= (p.His650=) c.1617T= (p.His539=) | |
| 7 | g.117592027dup | CA2695208504 | CFTR | c.1860dup (p.Glu621Ter) c.*1574dup (n.*1574dup) c.1677dup (p.Glu560Ter) c.*160dup (n.*160dup) c.*1684dup (n.*1684dup) c.1434dup (p.Glu479Ter) c.1402-10799dup (n.1402-10799dup) c.1770dup (p.Glu591Ter) c.1950dup (p.Glu651Ter) c.1617dup (p.Glu540Ter) | |
| 7 | g.117592028G>A | CA368978489 | CFTR | c.1861G>A (p.Glu621Lys) c.*1575G>A (n.*1575G>A) c.1678G>A (p.Glu560Lys) c.*161G>A (n.*161G>A) c.*1685G>A (n.*1685G>A) c.1435G>A (p.Glu479Lys) c.1402-10798G>A (n.1402-10798G>A) c.1771G>A (p.Glu591Lys) c.1951G>A (p.Glu651Lys) c.1618G>A (p.Glu540Lys) | COSMIC |
| 7 | g.117592028G>C | CA368978490 | CFTR | c.1861G>C (p.Glu621Gln) c.*1575G>C (n.*1575G>C) c.1678G>C (p.Glu560Gln) c.*161G>C (n.*161G>C) c.*1685G>C (n.*1685G>C) c.1435G>C (p.Glu479Gln) c.1402-10798G>C (n.1402-10798G>C) c.1771G>C (p.Glu591Gln) c.1951G>C (p.Glu651Gln) c.1618G>C (p.Glu540Gln) | |
| 7 | g.117592028G= | CA1737394038 | CFTR | c.1861G= (p.Glu621=) c.*1575G= (n.*1575G=) c.1678G= (p.Glu560=) c.*161G= (n.*161G=) c.*1685G= (n.*1685G=) c.1435G= (p.Glu479=) c.1402-10798G= (n.1402-10798G=) c.1771G= (p.Glu591=) c.1951G= (p.Glu651=) c.1618G= (p.Glu540=) | |
| 7 | g.117592028G>T | CA368978491 | CFTR | c.1861G>T (p.Glu621Ter) c.*1575G>T (n.*1575G>T) c.1678G>T (p.Glu560Ter) c.*161G>T (n.*161G>T) c.*1685G>T (n.*1685G>T) c.1435G>T (p.Glu479Ter) c.1402-10798G>T (n.1402-10798G>T) c.1771G>T (p.Glu591Ter) c.1951G>T (p.Glu651Ter) c.1618G>T (p.Glu540Ter) | ClinVar dbSNP |
| 7 | g.117592029A= | CA1737394042 | CFTR | c.1862A= (p.Glu621=) c.*1576A= (n.*1576A=) c.1679A= (p.Glu560=) c.*162A= (n.*162A=) c.*1686A= (n.*1686A=) c.1436A= (p.Glu479=) c.1402-10797A= (n.1402-10797A=) c.1772A= (p.Glu591=) c.1952A= (p.Glu651=) c.1619A= (p.Glu540=) | |
| 7 | g.117592029A>C | CA368978492 | CFTR | c.1862A>C (p.Glu621Ala) c.*1576A>C (n.*1576A>C) c.1679A>C (p.Glu560Ala) c.*162A>C (n.*162A>C) c.*1686A>C (n.*1686A>C) c.1436A>C (p.Glu479Ala) c.1402-10797A>C (n.1402-10797A>C) c.1772A>C (p.Glu591Ala) c.1952A>C (p.Glu651Ala) c.1619A>C (p.Glu540Ala) | |
| 7 | g.117592029A>G | CA368978493 | CFTR | c.1862A>G (p.Glu621Gly) c.*1576A>G (n.*1576A>G) c.1679A>G (p.Glu560Gly) c.*162A>G (n.*162A>G) c.*1686A>G (n.*1686A>G) c.1436A>G (p.Glu479Gly) c.1402-10797A>G (n.1402-10797A>G) c.1772A>G (p.Glu591Gly) c.1952A>G (p.Glu651Gly) c.1619A>G (p.Glu540Gly) | dbSNP |
| 7 | g.117592029A>T | CA368978495 | CFTR | c.1862A>T (p.Glu621Val) c.*1576A>T (n.*1576A>T) c.1679A>T (p.Glu560Val) c.*162A>T (n.*162A>T) c.*1686A>T (n.*1686A>T) c.1436A>T (p.Glu479Val) c.1402-10797A>T (n.1402-10797A>T) c.1772A>T (p.Glu591Val) c.1952A>T (p.Glu651Val) c.1619A>T (p.Glu540Val) | |
| 7 | g.117592030A>C | CA368978498 | CFTR | c.1863A>C (p.Glu621Asp) c.*1577A>C (n.*1577A>C) c.1680A>C (p.Glu560Asp) c.*163A>C (n.*163A>C) c.*1687A>C (n.*1687A>C) c.1437A>C (p.Glu479Asp) c.1402-10796A>C (n.1402-10796A>C) c.1773A>C (p.Glu591Asp) c.1953A>C (p.Glu651Asp) c.1620A>C (p.Glu540Asp) | |
| 7 | g.117592030A>G | CA457448856 | CFTR | c.1863A>G (p.Glu621=) c.*1577A>G (n.*1577A>G) c.1680A>G (p.Glu560=) c.*163A>G (n.*163A>G) c.*1687A>G (n.*1687A>G) c.1437A>G (p.Glu479=) c.1402-10796A>G (n.1402-10796A>G) c.1773A>G (p.Glu591=) c.1953A>G (p.Glu651=) c.1620A>G (p.Glu540=) | ClinVar |
| 7 | g.117592030A>T | CA368978500 | CFTR | c.1863A>T (p.Glu621Asp) c.*1577A>T (n.*1577A>T) c.1680A>T (p.Glu560Asp) c.*163A>T (n.*163A>T) c.*1687A>T (n.*1687A>T) c.1437A>T (p.Glu479Asp) c.1402-10796A>T (n.1402-10796A>T) c.1773A>T (p.Glu591Asp) c.1953A>T (p.Glu651Asp) c.1620A>T (p.Glu540Asp) | |
| 7 | g.117592031G>A | CA368978503 | CFTR | c.1864G>A (p.Gly622Ser) c.*1578G>A (n.*1578G>A) c.1681G>A (p.Gly561Ser) c.*164G>A (n.*164G>A) c.*1688G>A (n.*1688G>A) c.1438G>A (p.Gly480Ser) c.1402-10795G>A (n.1402-10795G>A) c.1774G>A (p.Gly592Ser) c.1954G>A (p.Gly652Ser) c.1621G>A (p.Gly541Ser) | |
| 7 | g.117592031G>C | CA368978505 | CFTR | c.1864G>C (p.Gly622Arg) c.*1578G>C (n.*1578G>C) c.1681G>C (p.Gly561Arg) c.*164G>C (n.*164G>C) c.*1688G>C (n.*1688G>C) c.1438G>C (p.Gly480Arg) c.1402-10795G>C (n.1402-10795G>C) c.1774G>C (p.Gly592Arg) c.1954G>C (p.Gly652Arg) c.1621G>C (p.Gly541Arg) | |
| 7 | g.117592031G>T | CA368978508 | CFTR | c.1864G>T (p.Gly622Cys) c.*1578G>T (n.*1578G>T) c.1681G>T (p.Gly561Cys) c.*164G>T (n.*164G>T) c.*1688G>T (n.*1688G>T) c.1438G>T (p.Gly480Cys) c.1402-10795G>T (n.1402-10795G>T) c.1774G>T (p.Gly592Cys) c.1954G>T (p.Gly652Cys) c.1621G>T (p.Gly541Cys) | |
| 7 | g.117592032G>A | CA326704 | CFTR | c.1865G>A (p.Gly622Asp) c.*1579G>A (n.*1579G>A) c.1682G>A (p.Gly561Asp) c.*165G>A (n.*165G>A) c.*1689G>A (n.*1689G>A) c.1439G>A (p.Gly480Asp) c.1402-10794G>A (n.1402-10794G>A) c.1775G>A (p.Gly592Asp) c.1955G>A (p.Gly652Asp) c.1622G>A (p.Gly541Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592032G>C | CA368978514 | CFTR | c.1865G>C (p.Gly622Ala) c.*1579G>C (n.*1579G>C) c.1682G>C (p.Gly561Ala) c.*165G>C (n.*165G>C) c.*1689G>C (n.*1689G>C) c.1439G>C (p.Gly480Ala) c.1402-10794G>C (n.1402-10794G>C) c.1775G>C (p.Gly592Ala) c.1955G>C (p.Gly652Ala) c.1622G>C (p.Gly541Ala) | |
| 7 | g.117592032G= | CA1737394048 | CFTR | c.1865G= (p.Gly622=) c.*1579G= (n.*1579G=) c.1682G= (p.Gly561=) c.*165G= (n.*165G=) c.*1689G= (n.*1689G=) c.1439G= (p.Gly480=) c.1402-10794G= (n.1402-10794G=) c.1775G= (p.Gly592=) c.1955G= (p.Gly652=) c.1622G= (p.Gly541=) | |
| 7 | g.117592032G>T | CA368978513 | CFTR | c.1865G>T (p.Gly622Val) c.*1579G>T (n.*1579G>T) c.1682G>T (p.Gly561Val) c.*165G>T (n.*165G>T) c.*1689G>T (n.*1689G>T) c.1439G>T (p.Gly480Val) c.1402-10794G>T (n.1402-10794G>T) c.1775G>T (p.Gly592Val) c.1955G>T (p.Gly652Val) c.1622G>T (p.Gly541Val) | |
| 7 | g.117592033T>A | CA457448857 | CFTR | c.1866T>A (p.Gly622=) c.*1580T>A (n.*1580T>A) c.1683T>A (p.Gly561=) c.*166T>A (n.*166T>A) c.*1690T>A (n.*1690T>A) c.1440T>A (p.Gly480=) c.1402-10793T>A (n.1402-10793T>A) c.1776T>A (p.Gly592=) c.1956T>A (p.Gly652=) c.1623T>A (p.Gly541=) | |
| 7 | g.117592033T>C | CA457448859 | CFTR | c.1866T>C (p.Gly622=) c.*1580T>C (n.*1580T>C) c.1683T>C (p.Gly561=) c.*166T>C (n.*166T>C) c.*1690T>C (n.*1690T>C) c.1440T>C (p.Gly480=) c.1402-10793T>C (n.1402-10793T>C) c.1776T>C (p.Gly592=) c.1956T>C (p.Gly652=) c.1623T>C (p.Gly541=) | gnomAD v4 |
| 7 | g.117592033T>G | CA457448858 | CFTR | c.1866T>G (p.Gly622=) c.*1580T>G (n.*1580T>G) c.1683T>G (p.Gly561=) c.*166T>G (n.*166T>G) c.*1690T>G (n.*1690T>G) c.1440T>G (p.Gly480=) c.1402-10793T>G (n.1402-10793T>G) c.1776T>G (p.Gly592=) c.1956T>G (p.Gly652=) c.1623T>G (p.Gly541=) | |
| 7 | g.117592034A>C | CA368978518 | CFTR | c.1867A>C (p.Ser623Arg) c.*1581A>C (n.*1581A>C) c.1684A>C (p.Ser562Arg) c.*167A>C (n.*167A>C) c.*1691A>C (n.*1691A>C) c.1441A>C (p.Ser481Arg) c.1402-10792A>C (n.1402-10792A>C) c.1777A>C (p.Ser593Arg) c.1957A>C (p.Ser653Arg) c.1624A>C (p.Ser542Arg) | |
| 7 | g.117592034A>G | CA368978520 | CFTR | c.1867A>G (p.Ser623Gly) c.*1581A>G (n.*1581A>G) c.1684A>G (p.Ser562Gly) c.*167A>G (n.*167A>G) c.*1691A>G (n.*1691A>G) c.1441A>G (p.Ser481Gly) c.1402-10792A>G (n.1402-10792A>G) c.1777A>G (p.Ser593Gly) c.1957A>G (p.Ser653Gly) c.1624A>G (p.Ser542Gly) | |
| 7 | g.117592034A>T | CA368978523 | CFTR | c.1867A>T (p.Ser623Cys) c.*1581A>T (n.*1581A>T) c.1684A>T (p.Ser562Cys) c.*167A>T (n.*167A>T) c.*1691A>T (n.*1691A>T) c.1441A>T (p.Ser481Cys) c.1402-10792A>T (n.1402-10792A>T) c.1777A>T (p.Ser593Cys) c.1957A>T (p.Ser653Cys) c.1624A>T (p.Ser542Cys) | |
| 7 | g.117592034dup | CA2580076503 | CFTR | c.1867dup (p.Ser623LysfsTer19) c.*1581dup (n.*1581dup) c.1684dup (p.Ser562LysfsTer19) c.*167dup (n.*167dup) c.*1691dup (n.*1691dup) c.1441dup (p.Ser481LysfsTer19) c.1402-10792dup (n.1402-10792dup) c.1777dup (p.Ser593LysfsTer19) c.1957dup (p.Ser653LysfsTer19) c.1624dup (p.Ser542LysfsTer19) | ClinVar |
| 7 | g.117592034_117592036delinsG | CA2580076502 | CFTR | c.1867_1869delinsG (p.Ser623GlufsTer18) c.*1581_*1583delinsG (n.*1581_*1583delinsG) c.1684_1686delinsG (p.Ser562GlufsTer18) c.*167_*169delinsG (n.*167_*169delinsG) c.*1691_*1693delinsG (n.*1691_*1693delinsG) c.1441_1443delinsG (p.Ser481GlufsTer18) c.1402-10792_1402-10790delinsG (n.1402-10792_1402-10790delinsG) c.1777_1779delinsG (p.Ser593GlufsTer18) c.1957_1959delinsG (p.Ser653GlufsTer18) c.1624_1626delinsG (p.Ser542GlufsTer18) | ClinVar |
| 7 | g.117592035G>A | CA368978526 | CFTR | c.1868G>A (p.Ser623Asn) c.*1582G>A (n.*1582G>A) c.1685G>A (p.Ser562Asn) c.*168G>A (n.*168G>A) c.*1692G>A (n.*1692G>A) c.1442G>A (p.Ser481Asn) c.1402-10791G>A (n.1402-10791G>A) c.1778G>A (p.Ser593Asn) c.1958G>A (p.Ser653Asn) c.1625G>A (p.Ser542Asn) | |
| 7 | g.117592035G>C | CA368978528 | CFTR | c.1868G>C (p.Ser623Thr) c.*1582G>C (n.*1582G>C) c.1685G>C (p.Ser562Thr) c.*168G>C (n.*168G>C) c.*1692G>C (n.*1692G>C) c.1442G>C (p.Ser481Thr) c.1402-10791G>C (n.1402-10791G>C) c.1778G>C (p.Ser593Thr) c.1958G>C (p.Ser653Thr) c.1625G>C (p.Ser542Thr) | |
| 7 | g.117592035G>T | CA368978529 | CFTR | c.1868G>T (p.Ser623Ile) c.*1582G>T (n.*1582G>T) c.1685G>T (p.Ser562Ile) c.*168G>T (n.*168G>T) c.*1692G>T (n.*1692G>T) c.1442G>T (p.Ser481Ile) c.1402-10791G>T (n.1402-10791G>T) c.1778G>T (p.Ser593Ile) c.1958G>T (p.Ser653Ile) c.1625G>T (p.Ser542Ile) | |
| 7 | g.117592036C>A | CA368978530 | CFTR | c.1869C>A (p.Ser623Arg) c.*1583C>A (n.*1583C>A) c.1686C>A (p.Ser562Arg) c.*169C>A (n.*169C>A) c.*1693C>A (n.*1693C>A) c.1443C>A (p.Ser481Arg) c.1402-10790C>A (n.1402-10790C>A) c.1779C>A (p.Ser593Arg) c.1959C>A (p.Ser653Arg) c.1626C>A (p.Ser542Arg) | |
| 7 | g.117592036C>G | CA368978532 | CFTR | c.1869C>G (p.Ser623Arg) c.*1583C>G (n.*1583C>G) c.1686C>G (p.Ser562Arg) c.*169C>G (n.*169C>G) c.*1693C>G (n.*1693C>G) c.1443C>G (p.Ser481Arg) c.1402-10790C>G (n.1402-10790C>G) c.1779C>G (p.Ser593Arg) c.1959C>G (p.Ser653Arg) c.1626C>G (p.Ser542Arg) | |
| 7 | g.117592036C>T | CA457448860 | CFTR | c.1869C>T (p.Ser623=) c.*1583C>T (n.*1583C>T) c.1686C>T (p.Ser562=) c.*169C>T (n.*169C>T) c.*1693C>T (n.*1693C>T) c.1443C>T (p.Ser481=) c.1402-10790C>T (n.1402-10790C>T) c.1779C>T (p.Ser593=) c.1959C>T (p.Ser653=) c.1626C>T (p.Ser542=) | |
| 7 | g.117592037A>C | CA368978534 | CFTR | c.1870A>C (p.Ser624Arg) c.*1584A>C (n.*1584A>C) c.1687A>C (p.Ser563Arg) c.*170A>C (n.*170A>C) c.*1694A>C (n.*1694A>C) c.1444A>C (p.Ser482Arg) c.1402-10789A>C (n.1402-10789A>C) c.1780A>C (p.Ser594Arg) c.1960A>C (p.Ser654Arg) c.1627A>C (p.Ser543Arg) | |
| 7 | g.117592037A>G | CA368978536 | CFTR | c.1870A>G (p.Ser624Gly) c.*1584A>G (n.*1584A>G) c.1687A>G (p.Ser563Gly) c.*170A>G (n.*170A>G) c.*1694A>G (n.*1694A>G) c.1444A>G (p.Ser482Gly) c.1402-10789A>G (n.1402-10789A>G) c.1780A>G (p.Ser594Gly) c.1960A>G (p.Ser654Gly) c.1627A>G (p.Ser543Gly) | |
| 7 | g.117592037A>T | CA368978539 | CFTR | c.1870A>T (p.Ser624Cys) c.*1584A>T (n.*1584A>T) c.1687A>T (p.Ser563Cys) c.*170A>T (n.*170A>T) c.*1694A>T (n.*1694A>T) c.1444A>T (p.Ser482Cys) c.1402-10789A>T (n.1402-10789A>T) c.1780A>T (p.Ser594Cys) c.1960A>T (p.Ser654Cys) c.1627A>T (p.Ser543Cys) | ClinVar 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.117592038G>A | CA368978544 | CFTR | c.1871G>A (p.Ser624Asn) c.*1585G>A (n.*1585G>A) c.1688G>A (p.Ser563Asn) c.*171G>A (n.*171G>A) c.*1695G>A (n.*1695G>A) c.1445G>A (p.Ser482Asn) c.1402-10788G>A (n.1402-10788G>A) c.1781G>A (p.Ser594Asn) c.1961G>A (p.Ser654Asn) c.1628G>A (p.Ser543Asn) | gnomAD v4 |
| 7 | g.117592038G>C | CA368978543 | CFTR | c.1871G>C (p.Ser624Thr) c.*1585G>C (n.*1585G>C) c.1688G>C (p.Ser563Thr) c.*171G>C (n.*171G>C) c.*1695G>C (n.*1695G>C) c.1445G>C (p.Ser482Thr) c.1402-10788G>C (n.1402-10788G>C) c.1781G>C (p.Ser594Thr) c.1961G>C (p.Ser654Thr) c.1628G>C (p.Ser543Thr) | |
| 7 | g.117592038G>T | CA368978540 | CFTR | c.1871G>T (p.Ser624Ile) c.*1585G>T (n.*1585G>T) c.1688G>T (p.Ser563Ile) c.*171G>T (n.*171G>T) c.*1695G>T (n.*1695G>T) c.1445G>T (p.Ser482Ile) c.1402-10788G>T (n.1402-10788G>T) c.1781G>T (p.Ser594Ile) c.1961G>T (p.Ser654Ile) c.1628G>T (p.Ser543Ile) | |
| 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 |
| 7 | g.117592051G>C | CA457448866 | CFTR | c.1884G>C (p.Gly628=) c.*1598G>C (n.*1598G>C) c.1701G>C (p.Gly567=) c.*184G>C (n.*184G>C) c.*1708G>C (n.*1708G>C) c.1458G>C (p.Gly486=) c.1402-10775G>C (n.1402-10775G>C) c.1794G>C (p.Gly598=) c.1974G>C (p.Gly658=) c.1641G>C (p.Gly547=) | |
| 7 | g.117592051G= | CA1737394087 | CFTR | c.1884G= (p.Gly628=) c.*1598G= (n.*1598G=) c.1701G= (p.Gly567=) c.*184G= (n.*184G=) c.*1708G= (n.*1708G=) c.1458G= (p.Gly486=) c.1402-10775G= (n.1402-10775G=) c.1794G= (p.Gly598=) c.1974G= (p.Gly658=) c.1641G= (p.Gly547=) | |
| 7 | g.117592051G>T | CA457448867 | CFTR | c.1884G>T (p.Gly628=) c.*1598G>T (n.*1598G>T) c.1701G>T (p.Gly567=) c.*184G>T (n.*184G>T) c.*1708G>T (n.*1708G>T) c.1458G>T (p.Gly486=) c.1402-10775G>T (n.1402-10775G>T) c.1794G>T (p.Gly598=) c.1974G>T (p.Gly658=) c.1641G>T (p.Gly547=) | dbSNP gnomAD v2 |
| 7 | g.117592052A= | CA1737394089 | CFTR | c.1885A= (p.Thr629=) c.*1599A= (n.*1599A=) c.1702A= (p.Thr568=) c.*185A= (n.*185A=) c.*1709A= (n.*1709A=) c.1459A= (p.Thr487=) c.1402-10774A= (n.1402-10774A=) c.1795A= (p.Thr599=) c.1975A= (p.Thr659=) c.1642A= (p.Thr548=) | |
| 7 | g.117592052A>C | CA368978617 | CFTR | c.1885A>C (p.Thr629Pro) c.*1599A>C (n.*1599A>C) c.1702A>C (p.Thr568Pro) c.*185A>C (n.*185A>C) c.*1709A>C (n.*1709A>C) c.1459A>C (p.Thr487Pro) c.1402-10774A>C (n.1402-10774A>C) c.1795A>C (p.Thr599Pro) c.1975A>C (p.Thr659Pro) c.1642A>C (p.Thr548Pro) | |
| 7 | g.117592052A>G | CA368978619 | CFTR | c.1885A>G (p.Thr629Ala) c.*1599A>G (n.*1599A>G) c.1702A>G (p.Thr568Ala) c.*185A>G (n.*185A>G) c.*1709A>G (n.*1709A>G) c.1459A>G (p.Thr487Ala) c.1402-10774A>G (n.1402-10774A>G) c.1795A>G (p.Thr599Ala) c.1975A>G (p.Thr659Ala) c.1642A>G (p.Thr548Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592052A>T | CA368978621 | CFTR | c.1885A>T (p.Thr629Ser) c.*1599A>T (n.*1599A>T) c.1702A>T (p.Thr568Ser) c.*185A>T (n.*185A>T) c.*1709A>T (n.*1709A>T) c.1459A>T (p.Thr487Ser) c.1402-10774A>T (n.1402-10774A>T) c.1795A>T (p.Thr599Ser) c.1975A>T (p.Thr659Ser) c.1642A>T (p.Thr548Ser) | |
| 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=) | |
| 7 | g.117592066C= | CA1737394115 | CFTR | c.1899C= (p.Leu633=) c.*1613C= (n.*1613C=) c.1716C= (p.Leu572=) c.*199C= (n.*199C=) c.*1723C= (n.*1723C=) c.1473C= (p.Leu491=) c.1402-10760C= (n.1402-10760C=) c.1809C= (p.Leu603=) c.1989C= (p.Leu663=) c.1656C= (p.Leu552=) | |
| 7 | g.117592066C>G | CA457448877 | CFTR | c.1899C>G (p.Leu633=) c.*1613C>G (n.*1613C>G) c.1716C>G (p.Leu572=) c.*199C>G (n.*199C>G) c.*1723C>G (n.*1723C>G) c.1473C>G (p.Leu491=) c.1402-10760C>G (n.1402-10760C>G) c.1809C>G (p.Leu603=) c.1989C>G (p.Leu663=) c.1656C>G (p.Leu552=) | |
| 7 | g.117592066C>T | CA457448878 | CFTR | c.1899C>T (p.Leu633=) c.*1613C>T (n.*1613C>T) c.1716C>T (p.Leu572=) c.*199C>T (n.*199C>T) c.*1723C>T (n.*1723C>T) c.1473C>T (p.Leu491=) c.1402-10760C>T (n.1402-10760C>T) c.1809C>T (p.Leu603=) c.1989C>T (p.Leu663=) c.1656C>T (p.Leu552=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117592067C>A | CA368978712 | CFTR | c.1900C>A (p.Gln634Lys) c.*1614C>A (n.*1614C>A) c.1717C>A (p.Gln573Lys) c.*200C>A (n.*200C>A) c.*1724C>A (n.*1724C>A) c.1474C>A (p.Gln492Lys) c.1402-10759C>A (n.1402-10759C>A) c.1810C>A (p.Gln604Lys) c.1990C>A (p.Gln664Lys) c.1657C>A (p.Gln553Lys) | |
| 7 | g.117592067C= | CA1737394120 | CFTR | c.1900C= (p.Gln634=) c.*1614C= (n.*1614C=) c.1717C= (p.Gln573=) c.*200C= (n.*200C=) c.*1724C= (n.*1724C=) c.1474C= (p.Gln492=) c.1402-10759C= (n.1402-10759C=) c.1810C= (p.Gln604=) c.1990C= (p.Gln664=) c.1657C= (p.Gln553=) | |
| 7 | g.117592067C>G | CA368978714 | CFTR | c.1900C>G (p.Gln634Glu) c.*1614C>G (n.*1614C>G) c.1717C>G (p.Gln573Glu) c.*200C>G (n.*200C>G) c.*1724C>G (n.*1724C>G) c.1474C>G (p.Gln492Glu) c.1402-10759C>G (n.1402-10759C>G) c.1810C>G (p.Gln604Glu) c.1990C>G (p.Gln664Glu) c.1657C>G (p.Gln553Glu) | |
| 7 | g.117592067C>T | CA326711 | CFTR | c.1900C>T (p.Gln634Ter) c.*1614C>T (n.*1614C>T) c.1717C>T (p.Gln573Ter) c.*200C>T (n.*200C>T) c.*1724C>T (n.*1724C>T) c.1474C>T (p.Gln492Ter) c.1402-10759C>T (n.1402-10759C>T) c.1810C>T (p.Gln604Ter) c.1990C>T (p.Gln664Ter) c.1657C>T (p.Gln553Ter) | dbSNP |
| 7 | g.117592067_117592068delinsCA | CA1737394121 | CFTR | c.1900_1901delinsCA (p.Gln634=) c.*1614_*1615delinsCA (n.*1614_*1615delinsCA) c.1717_1718delinsCA (p.Gln573=) c.*200_*201delinsCA (n.*200_*201delinsCA) c.*1724_*1725delinsCA (n.*1724_*1725delinsCA) c.1474_1475delinsCA (p.Gln492=) c.1402-10759_1402-10758delinsCA (n.1402-10759_1402-10758delinsCA) c.1810_1811delinsCA (p.Gln604=) c.1990_1991delinsCA (p.Gln664=) c.1657_1658delinsCA (p.Gln553=) | |
| 7 | g.117592068A>C | CA368978717 | CFTR | c.1901A>C (p.Gln634Pro) c.*1615A>C (n.*1615A>C) c.1718A>C (p.Gln573Pro) c.*201A>C (n.*201A>C) c.*1725A>C (n.*1725A>C) c.1475A>C (p.Gln492Pro) c.1402-10758A>C (n.1402-10758A>C) c.1811A>C (p.Gln604Pro) c.1991A>C (p.Gln664Pro) c.1658A>C (p.Gln553Pro) | |
| 7 | g.117592068A>G | CA368978719 | CFTR | c.1901A>G (p.Gln634Arg) c.*1615A>G (n.*1615A>G) c.1718A>G (p.Gln573Arg) c.*201A>G (n.*201A>G) c.*1725A>G (n.*1725A>G) c.1475A>G (p.Gln492Arg) c.1402-10758A>G (n.1402-10758A>G) c.1811A>G (p.Gln604Arg) c.1991A>G (p.Gln664Arg) c.1658A>G (p.Gln553Arg) | |
| 7 | g.117592068A>T | CA368978720 | CFTR | c.1901A>T (p.Gln634Leu) c.*1615A>T (n.*1615A>T) c.1718A>T (p.Gln573Leu) c.*201A>T (n.*201A>T) c.*1725A>T (n.*1725A>T) c.1475A>T (p.Gln492Leu) c.1402-10758A>T (n.1402-10758A>T) c.1811A>T (p.Gln604Leu) c.1991A>T (p.Gln664Leu) c.1658A>T (p.Gln553Leu) | |
| 7 | g.117592071del | CA577680754 | CFTR | c.1904del (p.Asn635IlefsTer28) c.*1618del (n.*1618del) c.1721del (p.Asn574IlefsTer28) c.*204del (n.*204del) c.*1728del (n.*1728del) c.1478del (p.Asn493IlefsTer28) c.1402-10755del (n.1402-10755del) c.1814del (p.Asn605IlefsTer28) c.1994del (p.Asn665IlefsTer28) c.1661del (p.Asn554IlefsTer28) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592069A>C | CA368978721 | CFTR | c.1902A>C (p.Gln634His) c.*1616A>C (n.*1616A>C) c.1719A>C (p.Gln573His) c.*202A>C (n.*202A>C) c.*1726A>C (n.*1726A>C) c.1476A>C (p.Gln492His) c.1402-10757A>C (n.1402-10757A>C) c.1812A>C (p.Gln604His) c.1992A>C (p.Gln664His) c.1659A>C (p.Gln553His) | ClinVar |
| 7 | g.117592069A>G | CA457448879 | CFTR | c.1902A>G (p.Gln634=) c.*1616A>G (n.*1616A>G) c.1719A>G (p.Gln573=) c.*202A>G (n.*202A>G) c.*1726A>G (n.*1726A>G) c.1476A>G (p.Gln492=) c.1402-10757A>G (n.1402-10757A>G) c.1812A>G (p.Gln604=) c.1992A>G (p.Gln664=) c.1659A>G (p.Gln553=) | ClinVar dbSNP |
| 7 | g.117592069A>T | CA368978722 | CFTR | c.1902A>T (p.Gln634His) c.*1616A>T (n.*1616A>T) c.1719A>T (p.Gln573His) c.*202A>T (n.*202A>T) c.*1726A>T (n.*1726A>T) c.1476A>T (p.Gln492His) c.1402-10757A>T (n.1402-10757A>T) c.1812A>T (p.Gln604His) c.1992A>T (p.Gln664His) c.1659A>T (p.Gln553His) | |
| 7 | g.117592070A>C | CA368978728 | CFTR | c.1903A>C (p.Asn635His) c.*1617A>C (n.*1617A>C) c.1720A>C (p.Asn574His) c.*203A>C (n.*203A>C) c.*1727A>C (n.*1727A>C) c.1477A>C (p.Asn493His) c.1402-10756A>C (n.1402-10756A>C) c.1813A>C (p.Asn605His) c.1993A>C (p.Asn665His) c.1660A>C (p.Asn554His) | |
| 7 | g.117592070A>G | CA368978726 | CFTR | c.1903A>G (p.Asn635Asp) c.*1617A>G (n.*1617A>G) c.1720A>G (p.Asn574Asp) c.*203A>G (n.*203A>G) c.*1727A>G (n.*1727A>G) c.1477A>G (p.Asn493Asp) c.1402-10756A>G (n.1402-10756A>G) c.1813A>G (p.Asn605Asp) c.1993A>G (p.Asn665Asp) c.1660A>G (p.Asn554Asp) | |
| 7 | g.117592070A>T | CA368978725 | CFTR | c.1903A>T (p.Asn635Tyr) c.*1617A>T (n.*1617A>T) c.1720A>T (p.Asn574Tyr) c.*203A>T (n.*203A>T) c.*1727A>T (n.*1727A>T) c.1477A>T (p.Asn493Tyr) c.1402-10756A>T (n.1402-10756A>T) c.1813A>T (p.Asn605Tyr) c.1993A>T (p.Asn665Tyr) c.1660A>T (p.Asn554Tyr) | |
| 7 | g.117592071A= | CA1737394129 | CFTR | c.1904A= (p.Asn635=) c.*1618A= (n.*1618A=) c.1721A= (p.Asn574=) c.*204A= (n.*204A=) c.*1728A= (n.*1728A=) c.1478A= (p.Asn493=) c.1402-10755A= (n.1402-10755A=) c.1814A= (p.Asn605=) c.1994A= (p.Asn665=) c.1661A= (p.Asn554=) | |
| 7 | g.117592071A>C | CA368978732 | CFTR | c.1904A>C (p.Asn635Thr) c.*1618A>C (n.*1618A>C) c.1721A>C (p.Asn574Thr) c.*204A>C (n.*204A>C) c.*1728A>C (n.*1728A>C) c.1478A>C (p.Asn493Thr) c.1402-10755A>C (n.1402-10755A>C) c.1814A>C (p.Asn605Thr) c.1994A>C (p.Asn665Thr) c.1661A>C (p.Asn554Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592071A>G | CA368978735 | CFTR | c.1904A>G (p.Asn635Ser) c.*1618A>G (n.*1618A>G) c.1721A>G (p.Asn574Ser) c.*204A>G (n.*204A>G) c.*1728A>G (n.*1728A>G) c.1478A>G (p.Asn493Ser) c.1402-10755A>G (n.1402-10755A>G) c.1814A>G (p.Asn605Ser) c.1994A>G (p.Asn665Ser) c.1661A>G (p.Asn554Ser) | |
| 7 | g.117592071A>T | CA368978736 | CFTR | c.1904A>T (p.Asn635Ile) c.*1618A>T (n.*1618A>T) c.1721A>T (p.Asn574Ile) c.*204A>T (n.*204A>T) c.*1728A>T (n.*1728A>T) c.1478A>T (p.Asn493Ile) c.1402-10755A>T (n.1402-10755A>T) c.1814A>T (p.Asn605Ile) c.1994A>T (p.Asn665Ile) c.1661A>T (p.Asn554Ile) | |
| 7 | g.117592072T>A | CA368978738 | CFTR | c.1905T>A (p.Asn635Lys) c.*1619T>A (n.*1619T>A) c.1722T>A (p.Asn574Lys) c.*205T>A (n.*205T>A) c.*1729T>A (n.*1729T>A) c.1479T>A (p.Asn493Lys) c.1402-10754T>A (n.1402-10754T>A) c.1815T>A (p.Asn605Lys) c.1995T>A (p.Asn665Lys) c.1662T>A (p.Asn554Lys) | ClinVar |
| 7 | g.117592072T>C | CA457448880 | CFTR | c.1905T>C (p.Asn635=) c.*1619T>C (n.*1619T>C) c.1722T>C (p.Asn574=) c.*205T>C (n.*205T>C) c.*1729T>C (n.*1729T>C) c.1479T>C (p.Asn493=) c.1402-10754T>C (n.1402-10754T>C) c.1815T>C (p.Asn605=) c.1995T>C (p.Asn665=) c.1662T>C (p.Asn554=) | ClinVar |
| 7 | g.117592072T>G | CA368978739 | CFTR | c.1905T>G (p.Asn635Lys) c.*1619T>G (n.*1619T>G) c.1722T>G (p.Asn574Lys) c.*205T>G (n.*205T>G) c.*1729T>G (n.*1729T>G) c.1479T>G (p.Asn493Lys) c.1402-10754T>G (n.1402-10754T>G) c.1815T>G (p.Asn605Lys) c.1995T>G (p.Asn665Lys) c.1662T>G (p.Asn554Lys) | |
| 7 | g.117592073C>A | CA368978741 | CFTR | c.1906C>A (p.Leu636Ile) c.*1620C>A (n.*1620C>A) c.1723C>A (p.Leu575Ile) c.*206C>A (n.*206C>A) c.*1730C>A (n.*1730C>A) c.1480C>A (p.Leu494Ile) c.1402-10753C>A (n.1402-10753C>A) c.1816C>A (p.Leu606Ile) c.1996C>A (p.Leu666Ile) c.1663C>A (p.Leu555Ile) | |
| 7 | g.117592073C>G | CA368978743 | CFTR | c.1906C>G (p.Leu636Val) c.*1620C>G (n.*1620C>G) c.1723C>G (p.Leu575Val) c.*206C>G (n.*206C>G) c.*1730C>G (n.*1730C>G) c.1480C>G (p.Leu494Val) c.1402-10753C>G (n.1402-10753C>G) c.1816C>G (p.Leu606Val) c.1996C>G (p.Leu666Val) c.1663C>G (p.Leu555Val) | |
| 7 | g.117592073C>T | CA457448881 | CFTR | c.1906C>T (p.Leu636=) c.*1620C>T (n.*1620C>T) c.1723C>T (p.Leu575=) c.*206C>T (n.*206C>T) c.*1730C>T (n.*1730C>T) c.1480C>T (p.Leu494=) c.1402-10753C>T (n.1402-10753C>T) c.1816C>T (p.Leu606=) c.1996C>T (p.Leu666=) c.1663C>T (p.Leu555=) | |
| 7 | g.117592074T>A | CA368978746 | CFTR | c.1907T>A (p.Leu636Gln) c.*1621T>A (n.*1621T>A) c.1724T>A (p.Leu575Gln) c.*207T>A (n.*207T>A) c.*1731T>A (n.*1731T>A) c.1481T>A (p.Leu494Gln) c.1402-10752T>A (n.1402-10752T>A) c.1817T>A (p.Leu606Gln) c.1997T>A (p.Leu666Gln) c.1664T>A (p.Leu555Gln) | |
| 7 | g.117592074T>C | CA4451111 | CFTR | c.1907T>C (p.Leu636Pro) c.*1621T>C (n.*1621T>C) c.1724T>C (p.Leu575Pro) c.*207T>C (n.*207T>C) c.*1731T>C (n.*1731T>C) c.1481T>C (p.Leu494Pro) c.1402-10752T>C (n.1402-10752T>C) c.1817T>C (p.Leu606Pro) c.1997T>C (p.Leu666Pro) c.1664T>C (p.Leu555Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592074T>G | CA368978749 | CFTR | c.1907T>G (p.Leu636Arg) c.*1621T>G (n.*1621T>G) c.1724T>G (p.Leu575Arg) c.*207T>G (n.*207T>G) c.*1731T>G (n.*1731T>G) c.1481T>G (p.Leu494Arg) c.1402-10752T>G (n.1402-10752T>G) c.1817T>G (p.Leu606Arg) c.1997T>G (p.Leu666Arg) c.1664T>G (p.Leu555Arg) | |
| 7 | g.117592074T= | CA1737394135 | CFTR | c.1907T= (p.Leu636=) c.*1621T= (n.*1621T=) c.1724T= (p.Leu575=) c.*207T= (n.*207T=) c.*1731T= (n.*1731T=) c.1481T= (p.Leu494=) c.1402-10752T= (n.1402-10752T=) c.1817T= (p.Leu606=) c.1997T= (p.Leu666=) c.1664T= (p.Leu555=) | |
| 7 | g.117592075A>C | CA457448882 | CFTR | c.1908A>C (p.Leu636=) c.*1622A>C (n.*1622A>C) c.1725A>C (p.Leu575=) c.*208A>C (n.*208A>C) c.*1732A>C (n.*1732A>C) c.1482A>C (p.Leu494=) c.1402-10751A>C (n.1402-10751A>C) c.1818A>C (p.Leu606=) c.1998A>C (p.Leu666=) c.1665A>C (p.Leu555=) | |
| 7 | g.117592075A>G | CA457448884 | CFTR | c.1908A>G (p.Leu636=) c.*1622A>G (n.*1622A>G) c.1725A>G (p.Leu575=) c.*208A>G (n.*208A>G) c.*1732A>G (n.*1732A>G) c.1482A>G (p.Leu494=) c.1402-10751A>G (n.1402-10751A>G) c.1818A>G (p.Leu606=) c.1998A>G (p.Leu666=) c.1665A>G (p.Leu555=) | gnomAD v4 |
| 7 | g.117592075A>T | CA457448883 | CFTR | c.1908A>T (p.Leu636=) c.*1622A>T (n.*1622A>T) c.1725A>T (p.Leu575=) c.*208A>T (n.*208A>T) c.*1732A>T (n.*1732A>T) c.1482A>T (p.Leu494=) c.1402-10751A>T (n.1402-10751A>T) c.1818A>T (p.Leu606=) c.1998A>T (p.Leu666=) c.1665A>T (p.Leu555=) | |
| 7 | g.117592076C>A | CA368978753 | CFTR | c.1909C>A (p.Gln637Lys) c.*1623C>A (n.*1623C>A) c.1726C>A (p.Gln576Lys) c.*209C>A (n.*209C>A) c.*1733C>A (n.*1733C>A) c.1483C>A (p.Gln495Lys) c.1402-10750C>A (n.1402-10750C>A) c.1819C>A (p.Gln607Lys) c.1999C>A (p.Gln667Lys) c.1666C>A (p.Gln556Lys) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592076C= | CA1737394141 | CFTR | c.1909C= (p.Gln637=) c.*1623C= (n.*1623C=) c.1726C= (p.Gln576=) c.*209C= (n.*209C=) c.*1733C= (n.*1733C=) c.1483C= (p.Gln495=) c.1402-10750C= (n.1402-10750C=) c.1819C= (p.Gln607=) c.1999C= (p.Gln667=) c.1666C= (p.Gln556=) | |
| 7 | g.117592076C>G | CA368978755 | CFTR | c.1909C>G (p.Gln637Glu) c.*1623C>G (n.*1623C>G) c.1726C>G (p.Gln576Glu) c.*209C>G (n.*209C>G) c.*1733C>G (n.*1733C>G) c.1483C>G (p.Gln495Glu) c.1402-10750C>G (n.1402-10750C>G) c.1819C>G (p.Gln607Glu) c.1999C>G (p.Gln667Glu) c.1666C>G (p.Gln556Glu) | |
| 7 | g.117592076C>T | CA326713 | CFTR | c.1909C>T (p.Gln637Ter) c.*1623C>T (n.*1623C>T) c.1726C>T (p.Gln576Ter) c.*209C>T (n.*209C>T) c.*1733C>T (n.*1733C>T) c.1483C>T (p.Gln495Ter) c.1402-10750C>T (n.1402-10750C>T) c.1819C>T (p.Gln607Ter) c.1999C>T (p.Gln667Ter) c.1666C>T (p.Gln556Ter) | ClinVar dbSNP |
| 7 | g.117592077A>C | CA368978758 | CFTR | c.1910A>C (p.Gln637Pro) c.*1624A>C (n.*1624A>C) c.1727A>C (p.Gln576Pro) c.*210A>C (n.*210A>C) c.*1734A>C (n.*1734A>C) c.1484A>C (p.Gln495Pro) c.1402-10749A>C (n.1402-10749A>C) c.1820A>C (p.Gln607Pro) c.2000A>C (p.Gln667Pro) c.1667A>C (p.Gln556Pro) | |
| 7 | g.117592077A>G | CA368978759 | CFTR | c.1910A>G (p.Gln637Arg) c.*1624A>G (n.*1624A>G) c.1727A>G (p.Gln576Arg) c.*210A>G (n.*210A>G) c.*1734A>G (n.*1734A>G) c.1484A>G (p.Gln495Arg) c.1402-10749A>G (n.1402-10749A>G) c.1820A>G (p.Gln607Arg) c.2000A>G (p.Gln667Arg) c.1667A>G (p.Gln556Arg) | dbSNP |
| 7 | g.117592077A>T | CA368978757 | CFTR | c.1910A>T (p.Gln637Leu) c.*1624A>T (n.*1624A>T) c.1727A>T (p.Gln576Leu) c.*210A>T (n.*210A>T) c.*1734A>T (n.*1734A>T) c.1484A>T (p.Gln495Leu) c.1402-10749A>T (n.1402-10749A>T) c.1820A>T (p.Gln607Leu) c.2000A>T (p.Gln667Leu) c.1667A>T (p.Gln556Leu) | |
| 7 | g.117592077_117592078delinsAG | CA1737394147 | CFTR | c.1910_1911delinsAG (p.Gln637=) c.*1624_*1625delinsAG (n.*1624_*1625delinsAG) c.1727_1728delinsAG (p.Gln576=) c.*210_*211delinsAG (n.*210_*211delinsAG) c.*1734_*1735delinsAG (n.*1734_*1735delinsAG) c.1484_1485delinsAG (p.Gln495=) c.1402-10749_1402-10748delinsAG (n.1402-10749_1402-10748delinsAG) c.1820_1821delinsAG (p.Gln607=) c.2000_2001delinsAG (p.Gln667=) c.1667_1668delinsAG (p.Gln556=) | |
| 7 | g.117592078del | CA325698 | CFTR | c.1911del (p.Gln637HisfsTer26) c.*1625del (n.*1625del) c.1728del (p.Gln576HisfsTer26) c.*211del (n.*211del) c.*1735del (n.*1735del) c.1485del (p.Gln495HisfsTer26) c.1402-10748del (n.1402-10748del) c.1821del (p.Gln607HisfsTer26) c.2001del (p.Gln667HisfsTer26) c.1668del (p.Gln556HisfsTer26) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592078G>A | CA457448885 | CFTR | c.1911G>A (p.Gln637=) c.*1625G>A (n.*1625G>A) c.1728G>A (p.Gln576=) c.*211G>A (n.*211G>A) c.*1735G>A (n.*1735G>A) c.1485G>A (p.Gln495=) c.1402-10748G>A (n.1402-10748G>A) c.1821G>A (p.Gln607=) c.2001G>A (p.Gln667=) c.1668G>A (p.Gln556=) | |
| 7 | g.117592078G>C | CA164947579 | CFTR | c.1911G>C (p.Gln637His) c.*1625G>C (n.*1625G>C) c.1728G>C (p.Gln576His) c.*211G>C (n.*211G>C) c.*1735G>C (n.*1735G>C) c.1485G>C (p.Gln495His) c.1402-10748G>C (n.1402-10748G>C) c.1821G>C (p.Gln607His) c.2001G>C (p.Gln667His) c.1668G>C (p.Gln556His) | |
| 7 | g.117592078G>T | CA368978761 | CFTR | c.1911G>T (p.Gln637His) c.*1625G>T (n.*1625G>T) c.1728G>T (p.Gln576His) c.*211G>T (n.*211G>T) c.*1735G>T (n.*1735G>T) c.1485G>T (p.Gln495His) c.1402-10748G>T (n.1402-10748G>T) c.1821G>T (p.Gln607His) c.2001G>T (p.Gln667His) c.1668G>T (p.Gln556His) | |
| 7 | g.117592079C>A | CA368978765 | CFTR | c.1912C>A (p.Pro638Thr) c.*1626C>A (n.*1626C>A) c.1729C>A (p.Pro577Thr) c.*212C>A (n.*212C>A) c.*1736C>A (n.*1736C>A) c.1486C>A (p.Pro496Thr) c.1402-10747C>A (n.1402-10747C>A) c.1822C>A (p.Pro608Thr) c.2002C>A (p.Pro668Thr) c.1669C>A (p.Pro557Thr) | |
| 7 | g.117592079C= | CA1737394156 | CFTR | c.1912C= (p.Pro638=) c.*1626C= (n.*1626C=) c.1729C= (p.Pro577=) c.*212C= (n.*212C=) c.*1736C= (n.*1736C=) c.1486C= (p.Pro496=) c.1402-10747C= (n.1402-10747C=) c.1822C= (p.Pro608=) c.2002C= (p.Pro668=) c.1669C= (p.Pro557=) | |
| 7 | g.117592079C>G | CA368978766 | CFTR | c.1912C>G (p.Pro638Ala) c.*1626C>G (n.*1626C>G) c.1729C>G (p.Pro577Ala) c.*212C>G (n.*212C>G) c.*1736C>G (n.*1736C>G) c.1486C>G (p.Pro496Ala) c.1402-10747C>G (n.1402-10747C>G) c.1822C>G (p.Pro608Ala) c.2002C>G (p.Pro668Ala) c.1669C>G (p.Pro557Ala) | |
| 7 | g.117592079C>T | CA368978768 | CFTR | c.1912C>T (p.Pro638Ser) c.*1626C>T (n.*1626C>T) c.1729C>T (p.Pro577Ser) c.*212C>T (n.*212C>T) c.*1736C>T (n.*1736C>T) c.1486C>T (p.Pro496Ser) c.1402-10747C>T (n.1402-10747C>T) c.1822C>T (p.Pro608Ser) c.2002C>T (p.Pro668Ser) c.1669C>T (p.Pro557Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592080C>A | CA368978772 | CFTR | c.1913C>A (p.Pro638Gln) c.*1627C>A (n.*1627C>A) c.1730C>A (p.Pro577Gln) c.*213C>A (n.*213C>A) c.*1737C>A (n.*1737C>A) c.1487C>A (p.Pro496Gln) c.1402-10746C>A (n.1402-10746C>A) c.1823C>A (p.Pro608Gln) c.2003C>A (p.Pro668Gln) c.1670C>A (p.Pro557Gln) | |
| 7 | g.117592080C= | CA1737394166 | CFTR | c.1913C= (p.Pro638=) c.*1627C= (n.*1627C=) c.1730C= (p.Pro577=) c.*213C= (n.*213C=) c.*1737C= (n.*1737C=) c.1487C= (p.Pro496=) c.1402-10746C= (n.1402-10746C=) c.1823C= (p.Pro608=) c.2003C= (p.Pro668=) c.1670C= (p.Pro557=) | |
| 7 | g.117592080C>G | CA368978774 | CFTR | c.1913C>G (p.Pro638Arg) c.*1627C>G (n.*1627C>G) c.1730C>G (p.Pro577Arg) c.*213C>G (n.*213C>G) c.*1737C>G (n.*1737C>G) c.1487C>G (p.Pro496Arg) c.1402-10746C>G (n.1402-10746C>G) c.1823C>G (p.Pro608Arg) c.2003C>G (p.Pro668Arg) c.1670C>G (p.Pro557Arg) | |
| 7 | g.117592080C>T | CA368978775 | CFTR | c.1913C>T (p.Pro638Leu) c.*1627C>T (n.*1627C>T) c.1730C>T (p.Pro577Leu) c.*213C>T (n.*213C>T) c.*1737C>T (n.*1737C>T) c.1487C>T (p.Pro496Leu) c.1402-10746C>T (n.1402-10746C>T) c.1823C>T (p.Pro608Leu) c.2003C>T (p.Pro668Leu) c.1670C>T (p.Pro557Leu) | ClinVar dbSNP |
| 7 | g.117592081A>C | CA457448886 | CFTR | c.1914A>C (p.Pro638=) c.*1628A>C (n.*1628A>C) c.1731A>C (p.Pro577=) c.*214A>C (n.*214A>C) c.*1738A>C (n.*1738A>C) c.1488A>C (p.Pro496=) c.1402-10745A>C (n.1402-10745A>C) c.1824A>C (p.Pro608=) c.2004A>C (p.Pro668=) c.1671A>C (p.Pro557=) | |
| 7 | g.117592081A>G | CA457448888 | CFTR | c.1914A>G (p.Pro638=) c.*1628A>G (n.*1628A>G) c.1731A>G (p.Pro577=) c.*214A>G (n.*214A>G) c.*1738A>G (n.*1738A>G) c.1488A>G (p.Pro496=) c.1402-10745A>G (n.1402-10745A>G) c.1824A>G (p.Pro608=) c.2004A>G (p.Pro668=) c.1671A>G (p.Pro557=) | |
| 7 | g.117592081A>T | CA457448887 | CFTR | c.1914A>T (p.Pro638=) c.*1628A>T (n.*1628A>T) c.1731A>T (p.Pro577=) c.*214A>T (n.*214A>T) c.*1738A>T (n.*1738A>T) c.1488A>T (p.Pro496=) c.1402-10745A>T (n.1402-10745A>T) c.1824A>T (p.Pro608=) c.2004A>T (p.Pro668=) c.1671A>T (p.Pro557=) | |
| 7 | g.117592082G>A | CA368978778 | CFTR | c.1915G>A (p.Asp639Asn) c.*1629G>A (n.*1629G>A) c.1732G>A (p.Asp578Asn) c.*215G>A (n.*215G>A) c.*1739G>A (n.*1739G>A) c.1489G>A (p.Asp497Asn) c.1402-10744G>A (n.1402-10744G>A) c.1825G>A (p.Asp609Asn) c.2005G>A (p.Asp669Asn) c.1672G>A (p.Asp558Asn) | |
| 7 | g.117592082G>C | CA368978780 | CFTR | c.1915G>C (p.Asp639His) c.*1629G>C (n.*1629G>C) c.1732G>C (p.Asp578His) c.*215G>C (n.*215G>C) c.*1739G>C (n.*1739G>C) c.1489G>C (p.Asp497His) c.1402-10744G>C (n.1402-10744G>C) c.1825G>C (p.Asp609His) c.2005G>C (p.Asp669His) c.1672G>C (p.Asp558His) | ClinVar |
| 7 | g.117592082G= | CA1737394172 | CFTR | c.1915G= (p.Asp639=) c.*1629G= (n.*1629G=) c.1732G= (p.Asp578=) c.*215G= (n.*215G=) c.*1739G= (n.*1739G=) c.1489G= (p.Asp497=) c.1402-10744G= (n.1402-10744G=) c.1825G= (p.Asp609=) c.2005G= (p.Asp669=) c.1672G= (p.Asp558=) | |
| 7 | g.117592082G>T | CA326715 | CFTR | c.1915G>T (p.Asp639Tyr) c.*1629G>T (n.*1629G>T) c.1732G>T (p.Asp578Tyr) c.*215G>T (n.*215G>T) c.*1739G>T (n.*1739G>T) c.1489G>T (p.Asp497Tyr) c.1402-10744G>T (n.1402-10744G>T) c.1825G>T (p.Asp609Tyr) c.2005G>T (p.Asp669Tyr) c.1672G>T (p.Asp558Tyr) | dbSNP |
| 7 | g.117592083A>C | CA368978782 | CFTR | c.1916A>C (p.Asp639Ala) c.*1630A>C (n.*1630A>C) c.1733A>C (p.Asp578Ala) c.*216A>C (n.*216A>C) c.*1740A>C (n.*1740A>C) c.1490A>C (p.Asp497Ala) c.1402-10743A>C (n.1402-10743A>C) c.1826A>C (p.Asp609Ala) c.2006A>C (p.Asp669Ala) c.1673A>C (p.Asp558Ala) | |
| 7 | g.117592083A>G | CA368978784 | CFTR | c.1916A>G (p.Asp639Gly) c.*1630A>G (n.*1630A>G) c.1733A>G (p.Asp578Gly) c.*216A>G (n.*216A>G) c.*1740A>G (n.*1740A>G) c.1490A>G (p.Asp497Gly) c.1402-10743A>G (n.1402-10743A>G) c.1826A>G (p.Asp609Gly) c.2006A>G (p.Asp669Gly) c.1673A>G (p.Asp558Gly) | |
| 7 | g.117592083A>T | CA368978786 | CFTR | c.1916A>T (p.Asp639Val) c.*1630A>T (n.*1630A>T) c.1733A>T (p.Asp578Val) c.*216A>T (n.*216A>T) c.*1740A>T (n.*1740A>T) c.1490A>T (p.Asp497Val) c.1402-10743A>T (n.1402-10743A>T) c.1826A>T (p.Asp609Val) c.2006A>T (p.Asp669Val) c.1673A>T (p.Asp558Val) | |
| 7 | g.117592084C>A | CA368978790 | CFTR | c.1917C>A (p.Asp639Glu) c.*1631C>A (n.*1631C>A) c.1734C>A (p.Asp578Glu) c.*217C>A (n.*217C>A) c.*1741C>A (n.*1741C>A) c.1491C>A (p.Asp497Glu) c.1402-10742C>A (n.1402-10742C>A) c.1827C>A (p.Asp609Glu) c.2007C>A (p.Asp669Glu) c.1674C>A (p.Asp558Glu) | |
| 7 | g.117592084C>G | CA368978792 | CFTR | c.1917C>G (p.Asp639Glu) c.*1631C>G (n.*1631C>G) c.1734C>G (p.Asp578Glu) c.*217C>G (n.*217C>G) c.*1741C>G (n.*1741C>G) c.1491C>G (p.Asp497Glu) c.1402-10742C>G (n.1402-10742C>G) c.1827C>G (p.Asp609Glu) c.2007C>G (p.Asp669Glu) c.1674C>G (p.Asp558Glu) | |
| 7 | g.117592084C>T | CA457448889 | CFTR | c.1917C>T (p.Asp639=) c.*1631C>T (n.*1631C>T) c.1734C>T (p.Asp578=) c.*217C>T (n.*217C>T) c.*1741C>T (n.*1741C>T) c.1491C>T (p.Asp497=) c.1402-10742C>T (n.1402-10742C>T) c.1827C>T (p.Asp609=) c.2007C>T (p.Asp669=) c.1674C>T (p.Asp558=) | |
| 7 | g.117592084_117592086delinsCTT | CA1737394175 | CFTR | c.1917_1919delinsCTT (p.Asp639=) c.*1631_*1633delinsCTT (n.*1631_*1633delinsCTT) c.1734_1736delinsCTT (p.Asp578=) c.*217_*219delinsCTT (n.*217_*219delinsCTT) c.*1741_*1743delinsCTT (n.*1741_*1743delinsCTT) c.1491_1493delinsCTT (p.Asp497=) c.1402-10742_1402-10740delinsCTT (n.1402-10742_1402-10740delinsCTT) c.1827_1829delinsCTT (p.Asp609=) c.2007_2009delinsCTT (p.Asp669=) c.1674_1676delinsCTT (p.Asp558=) | |
| 7 | g.117592085T>A | CA368978794 | CFTR | c.1918T>A (p.Phe640Ile) c.*1632T>A (n.*1632T>A) c.1735T>A (p.Phe579Ile) c.*218T>A (n.*218T>A) c.*1742T>A (n.*1742T>A) c.1492T>A (p.Phe498Ile) c.1402-10741T>A (n.1402-10741T>A) c.1828T>A (p.Phe610Ile) c.2008T>A (p.Phe670Ile) c.1675T>A (p.Phe559Ile) | |
| 7 | g.117592085T>C | CA368978796 | CFTR | c.1918T>C (p.Phe640Leu) c.*1632T>C (n.*1632T>C) c.1735T>C (p.Phe579Leu) c.*218T>C (n.*218T>C) c.*1742T>C (n.*1742T>C) c.1492T>C (p.Phe498Leu) c.1402-10741T>C (n.1402-10741T>C) c.1828T>C (p.Phe610Leu) c.2008T>C (p.Phe670Leu) c.1675T>C (p.Phe559Leu) | |
| 7 | g.117592085T>G | CA368978797 | CFTR | c.1918T>G (p.Phe640Val) c.*1632T>G (n.*1632T>G) c.1735T>G (p.Phe579Val) c.*218T>G (n.*218T>G) c.*1742T>G (n.*1742T>G) c.1492T>G (p.Phe498Val) c.1402-10741T>G (n.1402-10741T>G) c.1828T>G (p.Phe610Val) c.2008T>G (p.Phe670Val) c.1675T>G (p.Phe559Val) | |
| 7 | g.117592086_117592087del | CA326717 | CFTR | c.1919_1920del (p.Phe640Ter) c.*1633_*1634del (n.*1633_*1634del) c.1736_1737del (p.Phe579Ter) c.*219_*220del (n.*219_*220del) c.*1743_*1744del (n.*1743_*1744del) c.1493_1494del (p.Phe498Ter) c.1402-10740_1402-10739del (n.1402-10740_1402-10739del) c.1829_1830del (p.Phe610Ter) c.2009_2010del (p.Phe670Ter) c.1676_1677del (p.Phe559Ter) | ClinVar dbSNP |
| 7 | g.117592086T>A | CA368978800 | CFTR | c.1919T>A (p.Phe640Tyr) c.*1633T>A (n.*1633T>A) c.1736T>A (p.Phe579Tyr) c.*219T>A (n.*219T>A) c.*1743T>A (n.*1743T>A) c.1493T>A (p.Phe498Tyr) c.1402-10740T>A (n.1402-10740T>A) c.1829T>A (p.Phe610Tyr) c.2009T>A (p.Phe670Tyr) c.1676T>A (p.Phe559Tyr) | |
| 7 | g.117592086T>C | CA368978802 | CFTR | c.1919T>C (p.Phe640Ser) c.*1633T>C (n.*1633T>C) c.1736T>C (p.Phe579Ser) c.*219T>C (n.*219T>C) c.*1743T>C (n.*1743T>C) c.1493T>C (p.Phe498Ser) c.1402-10740T>C (n.1402-10740T>C) c.1829T>C (p.Phe610Ser) c.2009T>C (p.Phe670Ser) c.1676T>C (p.Phe559Ser) | gnomAD v4 |
| 7 | g.117592086T>G | CA368978804 | CFTR | c.1919T>G (p.Phe640Cys) c.*1633T>G (n.*1633T>G) c.1736T>G (p.Phe579Cys) c.*219T>G (n.*219T>G) c.*1743T>G (n.*1743T>G) c.1493T>G (p.Phe498Cys) c.1402-10740T>G (n.1402-10740T>G) c.1829T>G (p.Phe610Cys) c.2009T>G (p.Phe670Cys) c.1676T>G (p.Phe559Cys) | ClinVar |
| 7 | g.117592086T= | CA1737394180 | CFTR | c.1919T= (p.Phe640=) c.*1633T= (n.*1633T=) c.1736T= (p.Phe579=) c.*219T= (n.*219T=) c.*1743T= (n.*1743T=) c.1493T= (p.Phe498=) c.1402-10740T= (n.1402-10740T=) c.1829T= (p.Phe610=) c.2009T= (p.Phe670=) c.1676T= (p.Phe559=) | |
| 7 | g.117592087T>A | CA368978806 | CFTR | c.1920T>A (p.Phe640Leu) c.*1634T>A (n.*1634T>A) c.1737T>A (p.Phe579Leu) c.*220T>A (n.*220T>A) c.*1744T>A (n.*1744T>A) c.1494T>A (p.Phe498Leu) c.1402-10739T>A (n.1402-10739T>A) c.1830T>A (p.Phe610Leu) c.2010T>A (p.Phe670Leu) c.1677T>A (p.Phe559Leu) | |
| 7 | g.117592087T>C | CA4451112 | CFTR | c.1920T>C (p.Phe640=) c.*1634T>C (n.*1634T>C) c.1737T>C (p.Phe579=) c.*220T>C (n.*220T>C) c.*1744T>C (n.*1744T>C) c.1494T>C (p.Phe498=) c.1402-10739T>C (n.1402-10739T>C) c.1830T>C (p.Phe610=) c.2010T>C (p.Phe670=) c.1677T>C (p.Phe559=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592087T>G | CA368978811 | CFTR | c.1920T>G (p.Phe640Leu) c.*1634T>G (n.*1634T>G) c.1737T>G (p.Phe579Leu) c.*220T>G (n.*220T>G) c.*1744T>G (n.*1744T>G) c.1494T>G (p.Phe498Leu) c.1402-10739T>G (n.1402-10739T>G) c.1830T>G (p.Phe610Leu) c.2010T>G (p.Phe670Leu) c.1677T>G (p.Phe559Leu) | ClinVar |
| 7 | g.117592087T= | CA1737394184 | CFTR | c.1920T= (p.Phe640=) c.*1634T= (n.*1634T=) c.1737T= (p.Phe579=) c.*220T= (n.*220T=) c.*1744T= (n.*1744T=) c.1494T= (p.Phe498=) c.1402-10739T= (n.1402-10739T=) c.1830T= (p.Phe610=) c.2010T= (p.Phe670=) c.1677T= (p.Phe559=) | |
| 7 | g.117592087_117592088dup | CA915945424 | CFTR | c.1920_1921dup (p.Ser641IlefsTer23) c.*1634_*1635dup (n.*1634_*1635dup) c.1737_1738dup (p.Ser580IlefsTer23) c.*220_*221dup (n.*220_*221dup) c.*1744_*1745dup (n.*1744_*1745dup) c.1494_1495dup (p.Ser499IlefsTer23) c.1402-10739_1402-10738dup (n.1402-10739_1402-10738dup) c.1830_1831dup (p.Ser611IlefsTer23) c.2010_2011dup (p.Ser671IlefsTer23) c.1677_1678dup (p.Ser560IlefsTer23) | ClinVar dbSNP |
| 7 | g.117592088A= | CA1737394190 | CFTR | c.1921A= (p.Ser641=) c.*1635A= (n.*1635A=) c.1738A= (p.Ser580=) c.*221A= (n.*221A=) c.*1745A= (n.*1745A=) c.1495A= (p.Ser499=) c.1402-10738A= (n.1402-10738A=) c.1831A= (p.Ser611=) c.2011A= (p.Ser671=) c.1678A= (p.Ser560=) | |
| 7 | g.117592088A>C | CA368978812 | CFTR | c.1921A>C (p.Ser641Arg) c.*1635A>C (n.*1635A>C) c.1738A>C (p.Ser580Arg) c.*221A>C (n.*221A>C) c.*1745A>C (n.*1745A>C) c.1495A>C (p.Ser499Arg) c.1402-10738A>C (n.1402-10738A>C) c.1831A>C (p.Ser611Arg) c.2011A>C (p.Ser671Arg) c.1678A>C (p.Ser560Arg) | gnomAD v4 |
| 7 | g.117592088A>G | CA4451113 | CFTR | c.1921A>G (p.Ser641Gly) c.*1635A>G (n.*1635A>G) c.1738A>G (p.Ser580Gly) c.*221A>G (n.*221A>G) c.*1745A>G (n.*1745A>G) c.1495A>G (p.Ser499Gly) c.1402-10738A>G (n.1402-10738A>G) c.1831A>G (p.Ser611Gly) c.2011A>G (p.Ser671Gly) c.1678A>G (p.Ser560Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592088A>T | CA368978816 | CFTR | c.1921A>T (p.Ser641Cys) c.*1635A>T (n.*1635A>T) c.1738A>T (p.Ser580Cys) c.*221A>T (n.*221A>T) c.*1745A>T (n.*1745A>T) c.1495A>T (p.Ser499Cys) c.1402-10738A>T (n.1402-10738A>T) c.1831A>T (p.Ser611Cys) c.2011A>T (p.Ser671Cys) c.1678A>T (p.Ser560Cys) | |
| 7 | g.117592088_117592089insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT | CA2509043200 | CFTR | c.1921_1922insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (p.Ser641LysfsTer3) c.*1635_*1636insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (n.*1635_*1636insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT) c.1738_1739insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (p.Ser580LysfsTer3) c.*221_*222insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (n.*221_*222insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT) c.*1745_*1746insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (n.*1745_*1746insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT) c.1495_1496insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (p.Ser499LysfsTer3) c.1402-10738_1402-10737insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (n.1402-10738_1402-10737insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT) c.1831_1832insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (p.Ser611LysfsTer3) c.2011_2012insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (p.Ser671LysfsTer3) c.1678_1679insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (p.Ser560LysfsTer3) | |
| 7 | g.117592089G>A | CA368978824 | CFTR | c.1922G>A (p.Ser641Asn) c.*1636G>A (n.*1636G>A) c.1739G>A (p.Ser580Asn) c.*222G>A (n.*222G>A) c.*1746G>A (n.*1746G>A) c.1496G>A (p.Ser499Asn) c.1402-10737G>A (n.1402-10737G>A) c.1832G>A (p.Ser611Asn) c.2012G>A (p.Ser671Asn) c.1679G>A (p.Ser560Asn) | |
| 7 | g.117592089G>C | CA368978819 | CFTR | c.1922G>C (p.Ser641Thr) c.*1636G>C (n.*1636G>C) c.1739G>C (p.Ser580Thr) c.*222G>C (n.*222G>C) c.*1746G>C (n.*1746G>C) c.1496G>C (p.Ser499Thr) c.1402-10737G>C (n.1402-10737G>C) c.1832G>C (p.Ser611Thr) c.2012G>C (p.Ser671Thr) c.1679G>C (p.Ser560Thr) | |
| 7 | g.117592089G>T | CA368978821 | CFTR | c.1922G>T (p.Ser641Ile) c.*1636G>T (n.*1636G>T) c.1739G>T (p.Ser580Ile) c.*222G>T (n.*222G>T) c.*1746G>T (n.*1746G>T) c.1496G>T (p.Ser499Ile) c.1402-10737G>T (n.1402-10737G>T) c.1832G>T (p.Ser611Ile) c.2012G>T (p.Ser671Ile) c.1679G>T (p.Ser560Ile) | |
| 7 | g.117592089_117592092delinsGCTC | CA1737394196 | CFTR | c.1922_1925delinsGCTC (p.Ser641=) c.*1636_*1639delinsGCTC (n.*1636_*1639delinsGCTC) c.1739_1742delinsGCTC (p.Ser580=) c.*222_*225delinsGCTC (n.*222_*225delinsGCTC) c.*1746_*1749delinsGCTC (n.*1746_*1749delinsGCTC) c.1496_1499delinsGCTC (p.Ser499=) c.1402-10737_1402-10734delinsGCTC (n.1402-10737_1402-10734delinsGCTC) c.1832_1835delinsGCTC (p.Ser611=) c.2012_2015delinsGCTC (p.Ser671=) c.1679_1682delinsGCTC (p.Ser560=) | |
| 7 | g.117592089_117592097delinsGCTCAAAAC | CA1737394195 | CFTR | c.1922_1930delinsGCTCAAAAC (p.Ser641=) c.*1636_*1644delinsGCTCAAAAC (n.*1636_*1644delinsGCTCAAAAC) c.1739_1747delinsGCTCAAAAC (p.Ser580=) c.*222_*230delinsGCTCAAAAC (n.*222_*230delinsGCTCAAAAC) c.*1746_*1754delinsGCTCAAAAC (n.*1746_*1754delinsGCTCAAAAC) c.1496_1504delinsGCTCAAAAC (p.Ser499=) c.1402-10737_1402-10729delinsGCTCAAAAC (n.1402-10737_1402-10729delinsGCTCAAAAC) c.1832_1840delinsGCTCAAAAC (p.Ser611=) c.2012_2020delinsGCTCAAAAC (p.Ser671=) c.1679_1687delinsGCTCAAAAC (p.Ser560=) | |
| 7 | g.117592089_117592098delinsGCTCAAAACT | CA1737394194 | CFTR | c.1922_1931delinsGCTCAAAACT (p.Ser641=) c.*1636_*1645delinsGCTCAAAACT (n.*1636_*1645delinsGCTCAAAACT) c.1739_1748delinsGCTCAAAACT (p.Ser580=) c.*222_*231delinsGCTCAAAACT (n.*222_*231delinsGCTCAAAACT) c.*1746_*1755delinsGCTCAAAACT (n.*1746_*1755delinsGCTCAAAACT) c.1496_1505delinsGCTCAAAACT (p.Ser499=) c.1402-10737_1402-10728delinsGCTCAAAACT (n.1402-10737_1402-10728delinsGCTCAAAACT) c.1832_1841delinsGCTCAAAACT (p.Ser611=) c.2012_2021delinsGCTCAAAACT (p.Ser671=) c.1679_1688delinsGCTCAAAACT (p.Ser560=) | |
| 7 | g.117592090C>A | CA368978828 | CFTR | c.1923C>A (p.Ser641Arg) c.*1637C>A (n.*1637C>A) c.1740C>A (p.Ser580Arg) c.*223C>A (n.*223C>A) c.*1747C>A (n.*1747C>A) c.1497C>A (p.Ser499Arg) c.1402-10736C>A (n.1402-10736C>A) c.1833C>A (p.Ser611Arg) c.2013C>A (p.Ser671Arg) c.1680C>A (p.Ser560Arg) | dbSNP |
| 7 | g.117592090C>G | CA368978831 | CFTR | c.1923C>G (p.Ser641Arg) c.*1637C>G (n.*1637C>G) c.1740C>G (p.Ser580Arg) c.*223C>G (n.*223C>G) c.*1747C>G (n.*1747C>G) c.1497C>G (p.Ser499Arg) c.1402-10736C>G (n.1402-10736C>G) c.1833C>G (p.Ser611Arg) c.2013C>G (p.Ser671Arg) c.1680C>G (p.Ser560Arg) | |
| 7 | g.117592090C>T | CA457448890 | CFTR | c.1923C>T (p.Ser641=) c.*1637C>T (n.*1637C>T) c.1740C>T (p.Ser580=) c.*223C>T (n.*223C>T) c.*1747C>T (n.*1747C>T) c.1497C>T (p.Ser499=) c.1402-10736C>T (n.1402-10736C>T) c.1833C>T (p.Ser611=) c.2013C>T (p.Ser671=) c.1680C>T (p.Ser560=) | |
| 7 | g.117592090_117592092del | CA577680760 | CFTR | c.1923_1925del (p.Ser641_Ser642delinsArg) c.*1637_*1639del (n.*1637_*1639del) c.1740_1742del (p.Ser580_Ser581delinsArg) c.*223_*225del (n.*223_*225del) c.*1747_*1749del (n.*1747_*1749del) c.1497_1499del (p.Ser499_Ser500delinsArg) c.1402-10736_1402-10734del (n.1402-10736_1402-10734del) c.1833_1835del (p.Ser611_Ser612delinsArg) c.2013_2015del (p.Ser671_Ser672delinsArg) c.1680_1682del (p.Ser560_Ser561delinsArg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592090_117592097del | CA832105371 | CFTR | c.1923_1930del (p.Ser642HisfsTer4) c.*1637_*1644del (n.*1637_*1644del) c.1740_1747del (p.Ser581HisfsTer4) c.*223_*230del (n.*223_*230del) c.*1747_*1754del (n.*1747_*1754del) c.1497_1504del (p.Ser500HisfsTer4) c.1402-10736_1402-10729del (n.1402-10736_1402-10729del) c.1833_1840del (p.Ser612HisfsTer4) c.2013_2020del (p.Ser672HisfsTer4) c.1680_1687del (p.Ser561HisfsTer4) | dbSNP |
| 7 | g.117592090_117592098delinsA | CA326718 | CFTR | c.1923_1931delinsA (p.Ser641ArgfsTer5) c.*1637_*1645delinsA (n.*1637_*1645delinsA) c.1740_1748delinsA (p.Ser580ArgfsTer5) c.*223_*231delinsA (n.*223_*231delinsA) c.*1747_*1755delinsA (n.*1747_*1755delinsA) c.1497_1505delinsA (p.Ser499ArgfsTer5) c.1402-10736_1402-10728delinsA (n.1402-10736_1402-10728delinsA) c.1833_1841delinsA (p.Ser611ArgfsTer5) c.2013_2021delinsA (p.Ser671ArgfsTer5) c.1680_1688delinsA (p.Ser560ArgfsTer5) | ClinVar dbSNP |
| 7 | g.117592091_117592099del | CA2695208505 | CFTR | c.1924_1932del (p.Ser642_Leu644del) c.*1638_*1646del (n.*1638_*1646del) c.1741_1749del (p.Ser581_Leu583del) c.*224_*232del (n.*224_*232del) c.*1748_*1756del (n.*1748_*1756del) c.1498_1506del (p.Ser500_Leu502del) c.1402-10735_1402-10727del (n.1402-10735_1402-10727del) c.1834_1842del (p.Ser612_Leu614del) c.2014_2022del (p.Ser672_Leu674del) c.1681_1689del (p.Ser561_Leu563del) | |
| 7 | g.117592091T>A | CA368978833 | CFTR | c.1924T>A (p.Ser642Thr) c.*1638T>A (n.*1638T>A) c.1741T>A (p.Ser581Thr) c.*224T>A (n.*224T>A) c.*1748T>A (n.*1748T>A) c.1498T>A (p.Ser500Thr) c.1402-10735T>A (n.1402-10735T>A) c.1834T>A (p.Ser612Thr) c.2014T>A (p.Ser672Thr) c.1681T>A (p.Ser561Thr) | |
| 7 | g.117592091T>C | CA164947599 | CFTR | c.1924T>C (p.Ser642Pro) c.*1638T>C (n.*1638T>C) c.1741T>C (p.Ser581Pro) c.*224T>C (n.*224T>C) c.*1748T>C (n.*1748T>C) c.1498T>C (p.Ser500Pro) c.1402-10735T>C (n.1402-10735T>C) c.1834T>C (p.Ser612Pro) c.2014T>C (p.Ser672Pro) c.1681T>C (p.Ser561Pro) | dbSNP gnomAD v4 |
| 7 | g.117592091T>G | CA368978835 | CFTR | c.1924T>G (p.Ser642Ala) c.*1638T>G (n.*1638T>G) c.1741T>G (p.Ser581Ala) c.*224T>G (n.*224T>G) c.*1748T>G (n.*1748T>G) c.1498T>G (p.Ser500Ala) c.1402-10735T>G (n.1402-10735T>G) c.1834T>G (p.Ser612Ala) c.2014T>G (p.Ser672Ala) c.1681T>G (p.Ser561Ala) | |
| 7 | g.117592091T= | CA1737394206 | CFTR | c.1924T= (p.Ser642=) c.*1638T= (n.*1638T=) c.1741T= (p.Ser581=) c.*224T= (n.*224T=) c.*1748T= (n.*1748T=) c.1498T= (p.Ser500=) c.1402-10735T= (n.1402-10735T=) c.1834T= (p.Ser612=) c.2014T= (p.Ser672=) c.1681T= (p.Ser561=) | |
| 7 | g.117592091_117592098del | CA2582341949 | CFTR | c.1924_1931del (p.Ser642HisfsTer4) c.*1638_*1645del (n.*1638_*1645del) c.1741_1748del (p.Ser581HisfsTer4) c.*224_*231del (n.*224_*231del) c.*1748_*1755del (n.*1748_*1755del) c.1498_1505del (p.Ser500HisfsTer4) c.1402-10735_1402-10728del (n.1402-10735_1402-10728del) c.1834_1841del (p.Ser612HisfsTer4) c.2014_2021del (p.Ser672HisfsTer4) c.1681_1688del (p.Ser561HisfsTer4) | ClinVar |
| 7 | g.117592092C>A | CA368978837 | CFTR | c.1925C>A (p.Ser642Ter) c.*1639C>A (n.*1639C>A) c.1742C>A (p.Ser581Ter) c.*225C>A (n.*225C>A) c.*1749C>A (n.*1749C>A) c.1499C>A (p.Ser500Ter) c.1402-10734C>A (n.1402-10734C>A) c.1835C>A (p.Ser612Ter) c.2015C>A (p.Ser672Ter) c.1682C>A (p.Ser561Ter) | |
| 7 | g.117592092C>G | CA368978839 | CFTR | c.1925C>G (p.Ser642Ter) c.*1639C>G (n.*1639C>G) c.1742C>G (p.Ser581Ter) c.*225C>G (n.*225C>G) c.*1749C>G (n.*1749C>G) c.1499C>G (p.Ser500Ter) c.1402-10734C>G (n.1402-10734C>G) c.1835C>G (p.Ser612Ter) c.2015C>G (p.Ser672Ter) c.1682C>G (p.Ser561Ter) | |
| 7 | g.117592092C>T | CA368978841 | CFTR | c.1925C>T (p.Ser642Leu) c.*1639C>T (n.*1639C>T) c.1742C>T (p.Ser581Leu) c.*225C>T (n.*225C>T) c.*1749C>T (n.*1749C>T) c.1499C>T (p.Ser500Leu) c.1402-10734C>T (n.1402-10734C>T) c.1835C>T (p.Ser612Leu) c.2015C>T (p.Ser672Leu) c.1682C>T (p.Ser561Leu) | |
| 7 | g.117592093A= | CA1737394208 | CFTR | c.1926A= (p.Ser642=) c.*1640A= (n.*1640A=) c.1743A= (p.Ser581=) c.*226A= (n.*226A=) c.*1750A= (n.*1750A=) c.1500A= (p.Ser500=) c.1402-10733A= (n.1402-10733A=) c.1836A= (p.Ser612=) c.2016A= (p.Ser672=) c.1683A= (p.Ser561=) | |
| 7 | g.117592093A>C | CA457448891 | CFTR | c.1926A>C (p.Ser642=) c.*1640A>C (n.*1640A>C) c.1743A>C (p.Ser581=) c.*226A>C (n.*226A>C) c.*1750A>C (n.*1750A>C) c.1500A>C (p.Ser500=) c.1402-10733A>C (n.1402-10733A>C) c.1836A>C (p.Ser612=) c.2016A>C (p.Ser672=) c.1683A>C (p.Ser561=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592093A>G | CA457448892 | CFTR | c.1926A>G (p.Ser642=) c.*1640A>G (n.*1640A>G) c.1743A>G (p.Ser581=) c.*226A>G (n.*226A>G) c.*1750A>G (n.*1750A>G) c.1500A>G (p.Ser500=) c.1402-10733A>G (n.1402-10733A>G) c.1836A>G (p.Ser612=) c.2016A>G (p.Ser672=) c.1683A>G (p.Ser561=) | |
| 7 | g.117592093A>T | CA457448893 | CFTR | c.1926A>T (p.Ser642=) c.*1640A>T (n.*1640A>T) c.1743A>T (p.Ser581=) c.*226A>T (n.*226A>T) c.*1750A>T (n.*1750A>T) c.1500A>T (p.Ser500=) c.1402-10733A>T (n.1402-10733A>T) c.1836A>T (p.Ser612=) c.2016A>T (p.Ser672=) c.1683A>T (p.Ser561=) | |
| 7 | g.117592093_117592098delinsAAAACT | CA1737394210 | CFTR | c.1926_1931delinsAAAACT (p.Ser642=) c.*1640_*1645delinsAAAACT (n.*1640_*1645delinsAAAACT) c.1743_1748delinsAAAACT (p.Ser581=) c.*226_*231delinsAAAACT (n.*226_*231delinsAAAACT) c.*1750_*1755delinsAAAACT (n.*1750_*1755delinsAAAACT) c.1500_1505delinsAAAACT (p.Ser500=) c.1402-10733_1402-10728delinsAAAACT (n.1402-10733_1402-10728delinsAAAACT) c.1836_1841delinsAAAACT (p.Ser612=) c.2016_2021delinsAAAACT (p.Ser672=) c.1683_1688delinsAAAACT (p.Ser561=) | |
| 7 | g.117592094A>C | CA368978844 | CFTR | c.1927A>C (p.Lys643Gln) c.*1641A>C (n.*1641A>C) c.1744A>C (p.Lys582Gln) c.*227A>C (n.*227A>C) c.*1751A>C (n.*1751A>C) c.1501A>C (p.Lys501Gln) c.1402-10732A>C (n.1402-10732A>C) c.1837A>C (p.Lys613Gln) c.2017A>C (p.Lys673Gln) c.1684A>C (p.Lys562Gln) | ClinVar |
| 7 | g.117592094A>G | CA368978846 | CFTR | c.1927A>G (p.Lys643Glu) c.*1641A>G (n.*1641A>G) c.1744A>G (p.Lys582Glu) c.*227A>G (n.*227A>G) c.*1751A>G (n.*1751A>G) c.1501A>G (p.Lys501Glu) c.1402-10732A>G (n.1402-10732A>G) c.1837A>G (p.Lys613Glu) c.2017A>G (p.Lys673Glu) c.1684A>G (p.Lys562Glu) | gnomAD v4 |
| 7 | g.117592094A>T | CA368978848 | CFTR | c.1927A>T (p.Lys643Ter) c.*1641A>T (n.*1641A>T) c.1744A>T (p.Lys582Ter) c.*227A>T (n.*227A>T) c.*1751A>T (n.*1751A>T) c.1501A>T (p.Lys501Ter) c.1402-10732A>T (n.1402-10732A>T) c.1837A>T (p.Lys613Ter) c.2017A>T (p.Lys673Ter) c.1684A>T (p.Lys562Ter) | |
| 7 | g.117592094_117592098del | CA577680761 | CFTR | c.1927_1931del (p.Lys643HisfsTer4) c.*1641_*1645del (n.*1641_*1645del) c.1744_1748del (p.Lys582HisfsTer4) c.*227_*231del (n.*227_*231del) c.*1751_*1755del (n.*1751_*1755del) c.1501_1505del (p.Lys501HisfsTer4) c.1402-10732_1402-10728del (n.1402-10732_1402-10728del) c.1837_1841del (p.Lys613HisfsTer4) c.2017_2021del (p.Lys673HisfsTer4) c.1684_1688del (p.Lys562HisfsTer4) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592095A= | CA1737394215 | CFTR | c.1928A= (p.Lys643=) c.*1642A= (n.*1642A=) c.1745A= (p.Lys582=) c.*228A= (n.*228A=) c.*1752A= (n.*1752A=) c.1502A= (p.Lys501=) c.1402-10731A= (n.1402-10731A=) c.1838A= (p.Lys613=) c.2018A= (p.Lys673=) c.1685A= (p.Lys562=) | |
| 7 | g.117592095A>C | CA368978851 | CFTR | c.1928A>C (p.Lys643Thr) c.*1642A>C (n.*1642A>C) c.1745A>C (p.Lys582Thr) c.*228A>C (n.*228A>C) c.*1752A>C (n.*1752A>C) c.1502A>C (p.Lys501Thr) c.1402-10731A>C (n.1402-10731A>C) c.1838A>C (p.Lys613Thr) c.2018A>C (p.Lys673Thr) c.1685A>C (p.Lys562Thr) | |
| 7 | g.117592095A>G | CA368978853 | CFTR | c.1928A>G (p.Lys643Arg) c.*1642A>G (n.*1642A>G) c.1745A>G (p.Lys582Arg) c.*228A>G (n.*228A>G) c.*1752A>G (n.*1752A>G) c.1502A>G (p.Lys501Arg) c.1402-10731A>G (n.1402-10731A>G) c.1838A>G (p.Lys613Arg) c.2018A>G (p.Lys673Arg) c.1685A>G (p.Lys562Arg) | ClinVar dbSNP |
| 7 | g.117592095A>T | CA368978855 | CFTR | c.1928A>T (p.Lys643Ile) c.*1642A>T (n.*1642A>T) c.1745A>T (p.Lys582Ile) c.*228A>T (n.*228A>T) c.*1752A>T (n.*1752A>T) c.1502A>T (p.Lys501Ile) c.1402-10731A>T (n.1402-10731A>T) c.1838A>T (p.Lys613Ile) c.2018A>T (p.Lys673Ile) c.1685A>T (p.Lys562Ile) | |
| 7 | g.117592096A= | CA1737394218 | CFTR | c.1929A= (p.Lys643=) c.*1643A= (n.*1643A=) c.1746A= (p.Lys582=) c.*229A= (n.*229A=) c.*1753A= (n.*1753A=) c.1503A= (p.Lys501=) c.1402-10730A= (n.1402-10730A=) c.1839A= (p.Lys613=) c.2019A= (p.Lys673=) c.1686A= (p.Lys562=) | |
| 7 | g.117592096A>C | CA368978857 | CFTR | c.1929A>C (p.Lys643Asn) c.*1643A>C (n.*1643A>C) c.1746A>C (p.Lys582Asn) c.*229A>C (n.*229A>C) c.*1753A>C (n.*1753A>C) c.1503A>C (p.Lys501Asn) c.1402-10730A>C (n.1402-10730A>C) c.1839A>C (p.Lys613Asn) c.2019A>C (p.Lys673Asn) c.1686A>C (p.Lys562Asn) | |
| 7 | g.117592096A>G | CA457448894 | CFTR | c.1929A>G (p.Lys643=) c.*1643A>G (n.*1643A>G) c.1746A>G (p.Lys582=) c.*229A>G (n.*229A>G) c.*1753A>G (n.*1753A>G) c.1503A>G (p.Lys501=) c.1402-10730A>G (n.1402-10730A>G) c.1839A>G (p.Lys613=) c.2019A>G (p.Lys673=) c.1686A>G (p.Lys562=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117592096A>T | CA368978858 | CFTR | c.1929A>T (p.Lys643Asn) c.*1643A>T (n.*1643A>T) c.1746A>T (p.Lys582Asn) c.*229A>T (n.*229A>T) c.*1753A>T (n.*1753A>T) c.1503A>T (p.Lys501Asn) c.1402-10730A>T (n.1402-10730A>T) c.1839A>T (p.Lys613Asn) c.2019A>T (p.Lys673Asn) c.1686A>T (p.Lys562Asn) | dbSNP |
| 7 | g.117592097C>A | CA368978861 | CFTR | c.1930C>A (p.Leu644Ile) c.*1644C>A (n.*1644C>A) c.1747C>A (p.Leu583Ile) c.*230C>A (n.*230C>A) c.*1754C>A (n.*1754C>A) c.1504C>A (p.Leu502Ile) c.1402-10729C>A (n.1402-10729C>A) c.1840C>A (p.Leu614Ile) c.2020C>A (p.Leu674Ile) c.1687C>A (p.Leu563Ile) | |
| 7 | g.117592097C>G | CA368978863 | CFTR | c.1930C>G (p.Leu644Val) c.*1644C>G (n.*1644C>G) c.1747C>G (p.Leu583Val) c.*230C>G (n.*230C>G) c.*1754C>G (n.*1754C>G) c.1504C>G (p.Leu502Val) c.1402-10729C>G (n.1402-10729C>G) c.1840C>G (p.Leu614Val) c.2020C>G (p.Leu674Val) c.1687C>G (p.Leu563Val) | |
| 7 | g.117592097C>T | CA368978865 | CFTR | c.1930C>T (p.Leu644Phe) c.*1644C>T (n.*1644C>T) c.1747C>T (p.Leu583Phe) c.*230C>T (n.*230C>T) c.*1754C>T (n.*1754C>T) c.1504C>T (p.Leu502Phe) c.1402-10729C>T (n.1402-10729C>T) c.1840C>T (p.Leu614Phe) c.2020C>T (p.Leu674Phe) c.1687C>T (p.Leu563Phe) | |
| 7 | g.117592098T>A | CA164947601 | CFTR | c.1931T>A (p.Leu644His) c.*1645T>A (n.*1645T>A) c.1748T>A (p.Leu583His) c.*231T>A (n.*231T>A) c.*1755T>A (n.*1755T>A) c.1505T>A (p.Leu502His) c.1402-10728T>A (n.1402-10728T>A) c.1841T>A (p.Leu614His) c.2021T>A (p.Leu674His) c.1688T>A (p.Leu563His) | dbSNP |
| 7 | g.117592098T>C | CA368978867 | CFTR | c.1931T>C (p.Leu644Pro) c.*1645T>C (n.*1645T>C) c.1748T>C (p.Leu583Pro) c.*231T>C (n.*231T>C) c.*1755T>C (n.*1755T>C) c.1505T>C (p.Leu502Pro) c.1402-10728T>C (n.1402-10728T>C) c.1841T>C (p.Leu614Pro) c.2021T>C (p.Leu674Pro) c.1688T>C (p.Leu563Pro) | COSMIC |
| 7 | g.117592098T>G | CA368978868 | CFTR | c.1931T>G (p.Leu644Arg) c.*1645T>G (n.*1645T>G) c.1748T>G (p.Leu583Arg) c.*231T>G (n.*231T>G) c.*1755T>G (n.*1755T>G) c.1505T>G (p.Leu502Arg) c.1402-10728T>G (n.1402-10728T>G) c.1841T>G (p.Leu614Arg) c.2021T>G (p.Leu674Arg) c.1688T>G (p.Leu563Arg) | |
| 7 | g.117592098T= | CA1737394222 | CFTR | c.1931T= (p.Leu644=) c.*1645T= (n.*1645T=) c.1748T= (p.Leu583=) c.*231T= (n.*231T=) c.*1755T= (n.*1755T=) c.1505T= (p.Leu502=) c.1402-10728T= (n.1402-10728T=) c.1841T= (p.Leu614=) c.2021T= (p.Leu674=) c.1688T= (p.Leu563=) | |
| 7 | g.117592099C>A | CA457448895 | CFTR | c.1932C>A (p.Leu644=) c.*1646C>A (n.*1646C>A) c.1749C>A (p.Leu583=) c.*232C>A (n.*232C>A) c.*1756C>A (n.*1756C>A) c.1506C>A (p.Leu502=) c.1402-10727C>A (n.1402-10727C>A) c.1842C>A (p.Leu614=) c.2022C>A (p.Leu674=) c.1689C>A (p.Leu563=) | |
| 7 | g.117592099C= | CA1737394230 | CFTR | c.1932C= (p.Leu644=) c.*1646C= (n.*1646C=) c.1749C= (p.Leu583=) c.*232C= (n.*232C=) c.*1756C= (n.*1756C=) c.1506C= (p.Leu502=) c.1402-10727C= (n.1402-10727C=) c.1842C= (p.Leu614=) c.2022C= (p.Leu674=) c.1689C= (p.Leu563=) | |
| 7 | g.117592099C>G | CA4451114 | CFTR | c.1932C>G (p.Leu644=) c.*1646C>G (n.*1646C>G) c.1749C>G (p.Leu583=) c.*232C>G (n.*232C>G) c.*1756C>G (n.*1756C>G) c.1506C>G (p.Leu502=) c.1402-10727C>G (n.1402-10727C>G) c.1842C>G (p.Leu614=) c.2022C>G (p.Leu674=) c.1689C>G (p.Leu563=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592099C>T | CA457448896 | CFTR | c.1932C>T (p.Leu644=) c.*1646C>T (n.*1646C>T) c.1749C>T (p.Leu583=) c.*232C>T (n.*232C>T) c.*1756C>T (n.*1756C>T) c.1506C>T (p.Leu502=) c.1402-10727C>T (n.1402-10727C>T) c.1842C>T (p.Leu614=) c.2022C>T (p.Leu674=) c.1689C>T (p.Leu563=) | ClinVar dbSNP COSMIC |
| 7 | g.117592100A= | CA1737394240 | CFTR | c.1933A= (p.Met645=) c.*1647A= (n.*1647A=) c.1750A= (p.Met584=) c.*233A= (n.*233A=) c.*1757A= (n.*1757A=) c.1507A= (p.Met503=) c.1402-10726A= (n.1402-10726A=) c.1843A= (p.Met615=) c.2023A= (p.Met675=) c.1690A= (p.Met564=) | |
| 7 | g.117592100A>C | CA368978869 | CFTR | c.1933A>C (p.Met645Leu) c.*1647A>C (n.*1647A>C) c.1750A>C (p.Met584Leu) c.*233A>C (n.*233A>C) c.*1757A>C (n.*1757A>C) c.1507A>C (p.Met503Leu) c.1402-10726A>C (n.1402-10726A>C) c.1843A>C (p.Met615Leu) c.2023A>C (p.Met675Leu) c.1690A>C (p.Met564Leu) | gnomAD v4 |
| 7 | g.117592100A>G | CA368978870 | CFTR | c.1933A>G (p.Met645Val) c.*1647A>G (n.*1647A>G) c.1750A>G (p.Met584Val) c.*233A>G (n.*233A>G) c.*1757A>G (n.*1757A>G) c.1507A>G (p.Met503Val) c.1402-10726A>G (n.1402-10726A>G) c.1843A>G (p.Met615Val) c.2023A>G (p.Met675Val) c.1690A>G (p.Met564Val) | dbSNP |
| 7 | g.117592100A>T | CA368978874 | CFTR | c.1933A>T (p.Met645Leu) c.*1647A>T (n.*1647A>T) c.1750A>T (p.Met584Leu) c.*233A>T (n.*233A>T) c.*1757A>T (n.*1757A>T) c.1507A>T (p.Met503Leu) c.1402-10726A>T (n.1402-10726A>T) c.1843A>T (p.Met615Leu) c.2023A>T (p.Met675Leu) c.1690A>T (p.Met564Leu) | |
| 7 | g.117592101T>A | CA4451116 | CFTR | c.1934T>A (p.Met645Lys) c.*1648T>A (n.*1648T>A) c.1751T>A (p.Met584Lys) c.*234T>A (n.*234T>A) c.*1758T>A (n.*1758T>A) c.1508T>A (p.Met503Lys) c.1402-10725T>A (n.1402-10725T>A) c.1844T>A (p.Met615Lys) c.2024T>A (p.Met675Lys) c.1691T>A (p.Met564Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592101T>C | CA4451115 | CFTR | c.1934T>C (p.Met645Thr) c.*1648T>C (n.*1648T>C) c.1751T>C (p.Met584Thr) c.*234T>C (n.*234T>C) c.*1758T>C (n.*1758T>C) c.1508T>C (p.Met503Thr) c.1402-10725T>C (n.1402-10725T>C) c.1844T>C (p.Met615Thr) c.2024T>C (p.Met675Thr) c.1691T>C (p.Met564Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592101T>G | CA368978877 | CFTR | c.1934T>G (p.Met645Arg) c.*1648T>G (n.*1648T>G) c.1751T>G (p.Met584Arg) c.*234T>G (n.*234T>G) c.*1758T>G (n.*1758T>G) c.1508T>G (p.Met503Arg) c.1402-10725T>G (n.1402-10725T>G) c.1844T>G (p.Met615Arg) c.2024T>G (p.Met675Arg) c.1691T>G (p.Met564Arg) | |
| 7 | g.117592101T= | CA1737394250 | CFTR | c.1934T= (p.Met645=) c.*1648T= (n.*1648T=) c.1751T= (p.Met584=) c.*234T= (n.*234T=) c.*1758T= (n.*1758T=) c.1508T= (p.Met503=) c.1402-10725T= (n.1402-10725T=) c.1844T= (p.Met615=) c.2024T= (p.Met675=) c.1691T= (p.Met564=) | |
| 7 | g.117592102G>A | CA368978881 | CFTR | c.1935G>A (p.Met645Ile) c.*1649G>A (n.*1649G>A) c.1752G>A (p.Met584Ile) c.*235G>A (n.*235G>A) c.*1759G>A (n.*1759G>A) c.1509G>A (p.Met503Ile) c.1402-10724G>A (n.1402-10724G>A) c.1845G>A (p.Met615Ile) c.2025G>A (p.Met675Ile) c.1692G>A (p.Met564Ile) | ClinVar |
| 7 | g.117592102G>C | CA368978886 | CFTR | c.1935G>C (p.Met645Ile) c.*1649G>C (n.*1649G>C) c.1752G>C (p.Met584Ile) c.*235G>C (n.*235G>C) c.*1759G>C (n.*1759G>C) c.1509G>C (p.Met503Ile) c.1402-10724G>C (n.1402-10724G>C) c.1845G>C (p.Met615Ile) c.2025G>C (p.Met675Ile) c.1692G>C (p.Met564Ile) | |
| 7 | g.117592102G>T | CA368978883 | CFTR | c.1935G>T (p.Met645Ile) c.*1649G>T (n.*1649G>T) c.1752G>T (p.Met584Ile) c.*235G>T (n.*235G>T) c.*1759G>T (n.*1759G>T) c.1509G>T (p.Met503Ile) c.1402-10724G>T (n.1402-10724G>T) c.1845G>T (p.Met615Ile) c.2025G>T (p.Met675Ile) c.1692G>T (p.Met564Ile) | |
| 7 | g.117592104del | CA2580076508 | CFTR | c.1937del (p.Gly646AspfsTer17) c.*1651del (n.*1651del) c.1754del (p.Gly585AspfsTer17) c.*237del (n.*237del) c.*1761del (n.*1761del) c.1511del (p.Gly504AspfsTer17) c.1402-10722del (n.1402-10722del) c.1847del (p.Gly616AspfsTer17) c.2027del (p.Gly676AspfsTer17) c.1694del (p.Gly565AspfsTer17) | ClinVar |
| 7 | g.117592103G>A | CA368978889 | CFTR | c.1936G>A (p.Gly646Arg) c.*1650G>A (n.*1650G>A) c.1753G>A (p.Gly585Arg) c.*236G>A (n.*236G>A) c.*1760G>A (n.*1760G>A) c.1510G>A (p.Gly504Arg) c.1402-10723G>A (n.1402-10723G>A) c.1846G>A (p.Gly616Arg) c.2026G>A (p.Gly676Arg) c.1693G>A (p.Gly565Arg) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592103G>C | CA368978890 | CFTR | c.1936G>C (p.Gly646Arg) c.*1650G>C (n.*1650G>C) c.1753G>C (p.Gly585Arg) c.*236G>C (n.*236G>C) c.*1760G>C (n.*1760G>C) c.1510G>C (p.Gly504Arg) c.1402-10723G>C (n.1402-10723G>C) c.1846G>C (p.Gly616Arg) c.2026G>C (p.Gly676Arg) c.1693G>C (p.Gly565Arg) | |
| 7 | g.117592103G= | CA1737394263 | CFTR | c.1936G= (p.Gly646=) c.*1650G= (n.*1650G=) c.1753G= (p.Gly585=) c.*236G= (n.*236G=) c.*1760G= (n.*1760G=) c.1510G= (p.Gly504=) c.1402-10723G= (n.1402-10723G=) c.1846G= (p.Gly616=) c.2026G= (p.Gly676=) c.1693G= (p.Gly565=) | |
| 7 | g.117592103G>T | CA368978891 | CFTR | c.1936G>T (p.Gly646Ter) c.*1650G>T (n.*1650G>T) c.1753G>T (p.Gly585Ter) c.*236G>T (n.*236G>T) c.*1760G>T (n.*1760G>T) c.1510G>T (p.Gly504Ter) c.1402-10723G>T (n.1402-10723G>T) c.1846G>T (p.Gly616Ter) c.2026G>T (p.Gly676Ter) c.1693G>T (p.Gly565Ter) | ClinVar dbSNP |
| 7 | g.117592104G>A | CA368978894 | CFTR | c.1937G>A (p.Gly646Glu) c.*1651G>A (n.*1651G>A) c.1754G>A (p.Gly585Glu) c.*237G>A (n.*237G>A) c.*1761G>A (n.*1761G>A) c.1511G>A (p.Gly504Glu) c.1402-10722G>A (n.1402-10722G>A) c.1847G>A (p.Gly616Glu) c.2027G>A (p.Gly676Glu) c.1694G>A (p.Gly565Glu) | |
| 7 | g.117592104G>C | CA368978896 | CFTR | c.1937G>C (p.Gly646Ala) c.*1651G>C (n.*1651G>C) c.1754G>C (p.Gly585Ala) c.*237G>C (n.*237G>C) c.*1761G>C (n.*1761G>C) c.1511G>C (p.Gly504Ala) c.1402-10722G>C (n.1402-10722G>C) c.1847G>C (p.Gly616Ala) c.2027G>C (p.Gly676Ala) c.1694G>C (p.Gly565Ala) | |
| 7 | g.117592104G>T | CA368978898 | CFTR | c.1937G>T (p.Gly646Val) c.*1651G>T (n.*1651G>T) c.1754G>T (p.Gly585Val) c.*237G>T (n.*237G>T) c.*1761G>T (n.*1761G>T) c.1511G>T (p.Gly504Val) c.1402-10722G>T (n.1402-10722G>T) c.1847G>T (p.Gly616Val) c.2027G>T (p.Gly676Val) c.1694G>T (p.Gly565Val) |