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.117592274A>C | CA368979737 | CFTR | c.2107A>C (p.Asn703His) c.*1821A>C (n.*1821A>C) c.1924A>C (p.Asn642His) c.*407A>C (n.*407A>C) c.*1931A>C (n.*1931A>C) c.1681A>C (p.Asn561His) c.1402-10552A>C (n.1402-10552A>C) c.2017A>C (p.Asn673His) c.2197A>C (p.Asn733His) c.1864A>C (p.Asn622His) | |
7 | g.117592274A>G | CA368979741 | CFTR | c.2107A>G (p.Asn703Asp) c.*1821A>G (n.*1821A>G) c.1924A>G (p.Asn642Asp) c.*407A>G (n.*407A>G) c.*1931A>G (n.*1931A>G) c.1681A>G (p.Asn561Asp) c.1402-10552A>G (n.1402-10552A>G) c.2017A>G (p.Asn673Asp) c.2197A>G (p.Asn733Asp) c.1864A>G (p.Asn622Asp) | ClinVar |
7 | g.117592274A>T | CA368979739 | CFTR | c.2107A>T (p.Asn703Tyr) c.*1821A>T (n.*1821A>T) c.1924A>T (p.Asn642Tyr) c.*407A>T (n.*407A>T) c.*1931A>T (n.*1931A>T) c.1681A>T (p.Asn561Tyr) c.1402-10552A>T (n.1402-10552A>T) c.2017A>T (p.Asn673Tyr) c.2197A>T (p.Asn733Tyr) c.1864A>T (p.Asn622Tyr) | |
7 | g.117592275A= | CA1737394757 | CFTR | c.2108A= (p.Asn703=) c.*1822A= (n.*1822A=) c.1925A= (p.Asn642=) c.*408A= (n.*408A=) c.*1932A= (n.*1932A=) c.1682A= (p.Asn561=) c.1402-10551A= (n.1402-10551A=) c.2018A= (p.Asn673=) c.2198A= (p.Asn733=) c.1865A= (p.Asn622=) | |
7 | g.117592275A>C | CA368979744 | CFTR | c.2108A>C (p.Asn703Thr) c.*1822A>C (n.*1822A>C) c.1925A>C (p.Asn642Thr) c.*408A>C (n.*408A>C) c.*1932A>C (n.*1932A>C) c.1682A>C (p.Asn561Thr) c.1402-10551A>C (n.1402-10551A>C) c.2018A>C (p.Asn673Thr) c.2198A>C (p.Asn733Thr) c.1865A>C (p.Asn622Thr) | ClinVar |
7 | g.117592275A>G | CA368979746 | CFTR | c.2108A>G (p.Asn703Ser) c.*1822A>G (n.*1822A>G) c.1925A>G (p.Asn642Ser) c.*408A>G (n.*408A>G) c.*1932A>G (n.*1932A>G) c.1682A>G (p.Asn561Ser) c.1402-10551A>G (n.1402-10551A>G) c.2018A>G (p.Asn673Ser) c.2198A>G (p.Asn733Ser) c.1865A>G (p.Asn622Ser) | |
7 | g.117592275A>T | CA4451140 | CFTR | c.2108A>T (p.Asn703Ile) c.*1822A>T (n.*1822A>T) c.1925A>T (p.Asn642Ile) c.*408A>T (n.*408A>T) c.*1932A>T (n.*1932A>T) c.1682A>T (p.Asn561Ile) c.1402-10551A>T (n.1402-10551A>T) c.2018A>T (p.Asn673Ile) c.2198A>T (p.Asn733Ile) c.1865A>T (p.Asn622Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592276T>A | CA368979751 | CFTR | c.2109T>A (p.Asn703Lys) c.*1823T>A (n.*1823T>A) c.1926T>A (p.Asn642Lys) c.*409T>A (n.*409T>A) c.*1933T>A (n.*1933T>A) c.1683T>A (p.Asn561Lys) c.1402-10550T>A (n.1402-10550T>A) c.2019T>A (p.Asn673Lys) c.2199T>A (p.Asn733Lys) c.1866T>A (p.Asn622Lys) | |
7 | g.117592276T>C | CA4451141 | CFTR | c.2109T>C (p.Asn703=) c.*1823T>C (n.*1823T>C) c.1926T>C (p.Asn642=) c.*409T>C (n.*409T>C) c.*1933T>C (n.*1933T>C) c.1683T>C (p.Asn561=) c.1402-10550T>C (n.1402-10550T>C) c.2019T>C (p.Asn673=) c.2199T>C (p.Asn733=) c.1866T>C (p.Asn622=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592276T>G | CA368979757 | CFTR | c.2109T>G (p.Asn703Lys) c.*1823T>G (n.*1823T>G) c.1926T>G (p.Asn642Lys) c.*409T>G (n.*409T>G) c.*1933T>G (n.*1933T>G) c.1683T>G (p.Asn561Lys) c.1402-10550T>G (n.1402-10550T>G) c.2019T>G (p.Asn673Lys) c.2199T>G (p.Asn733Lys) c.1866T>G (p.Asn622Lys) | |
7 | g.117592276T= | CA1737394761 | CFTR | c.2109T= (p.Asn703=) c.*1823T= (n.*1823T=) c.1926T= (p.Asn642=) c.*409T= (n.*409T=) c.*1933T= (n.*1933T=) c.1683T= (p.Asn561=) c.1402-10550T= (n.1402-10550T=) c.2019T= (p.Asn673=) c.2199T= (p.Asn733=) c.1866T= (p.Asn622=) | |
7 | g.117592277C>A | CA368979760 | CFTR | c.2110C>A (p.Pro704Thr) c.*1824C>A (n.*1824C>A) c.1927C>A (p.Pro643Thr) c.*410C>A (n.*410C>A) c.*1934C>A (n.*1934C>A) c.1684C>A (p.Pro562Thr) c.1402-10549C>A (n.1402-10549C>A) c.2020C>A (p.Pro674Thr) c.2200C>A (p.Pro734Thr) c.1867C>A (p.Pro623Thr) | dbSNP gnomAD v4 |
7 | g.117592277C= | CA1737394766 | CFTR | c.2110C= (p.Pro704=) c.*1824C= (n.*1824C=) c.1927C= (p.Pro643=) c.*410C= (n.*410C=) c.*1934C= (n.*1934C=) c.1684C= (p.Pro562=) c.1402-10549C= (n.1402-10549C=) c.2020C= (p.Pro674=) c.2200C= (p.Pro734=) c.1867C= (p.Pro623=) | |
7 | g.117592277C>G | CA368979769 | CFTR | c.2110C>G (p.Pro704Ala) c.*1824C>G (n.*1824C>G) c.1927C>G (p.Pro643Ala) c.*410C>G (n.*410C>G) c.*1934C>G (n.*1934C>G) c.1684C>G (p.Pro562Ala) c.1402-10549C>G (n.1402-10549C>G) c.2020C>G (p.Pro674Ala) c.2200C>G (p.Pro734Ala) c.1867C>G (p.Pro623Ala) | |
7 | g.117592277C>T | CA368979774 | CFTR | c.2110C>T (p.Pro704Ser) c.*1824C>T (n.*1824C>T) c.1927C>T (p.Pro643Ser) c.*410C>T (n.*410C>T) c.*1934C>T (n.*1934C>T) c.1684C>T (p.Pro562Ser) c.1402-10549C>T (n.1402-10549C>T) c.2020C>T (p.Pro674Ser) c.2200C>T (p.Pro734Ser) c.1867C>T (p.Pro623Ser) | |
7 | g.117592278C>A | CA368979782 | CFTR | c.2111C>A (p.Pro704Gln) c.*1825C>A (n.*1825C>A) c.1928C>A (p.Pro643Gln) c.*411C>A (n.*411C>A) c.*1935C>A (n.*1935C>A) c.1685C>A (p.Pro562Gln) c.1402-10548C>A (n.1402-10548C>A) c.2021C>A (p.Pro674Gln) c.2201C>A (p.Pro734Gln) c.1868C>A (p.Pro623Gln) | |
7 | g.117592278C= | CA1737394772 | CFTR | c.2111C= (p.Pro704=) c.*1825C= (n.*1825C=) c.1928C= (p.Pro643=) c.*411C= (n.*411C=) c.*1935C= (n.*1935C=) c.1685C= (p.Pro562=) c.1402-10548C= (n.1402-10548C=) c.2021C= (p.Pro674=) c.2201C= (p.Pro734=) c.1868C= (p.Pro623=) | |
7 | g.117592278C>G | CA368979792 | CFTR | c.2111C>G (p.Pro704Arg) c.*1825C>G (n.*1825C>G) c.1928C>G (p.Pro643Arg) c.*411C>G (n.*411C>G) c.*1935C>G (n.*1935C>G) c.1685C>G (p.Pro562Arg) c.1402-10548C>G (n.1402-10548C>G) c.2021C>G (p.Pro674Arg) c.2201C>G (p.Pro734Arg) c.1868C>G (p.Pro623Arg) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592278C>T | CA4451142 | CFTR | c.2111C>T (p.Pro704Leu) c.*1825C>T (n.*1825C>T) c.1928C>T (p.Pro643Leu) c.*411C>T (n.*411C>T) c.*1935C>T (n.*1935C>T) c.1685C>T (p.Pro562Leu) c.1402-10548C>T (n.1402-10548C>T) c.2021C>T (p.Pro674Leu) c.2201C>T (p.Pro734Leu) c.1868C>T (p.Pro623Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592279A= | CA1737394777 | CFTR | c.2112A= (p.Pro704=) c.*1826A= (n.*1826A=) c.1929A= (p.Pro643=) c.*412A= (n.*412A=) c.*1936A= (n.*1936A=) c.1686A= (p.Pro562=) c.1402-10547A= (n.1402-10547A=) c.2022A= (p.Pro674=) c.2202A= (p.Pro734=) c.1869A= (p.Pro623=) | |
7 | g.117592279A>C | CA457449053 | CFTR | c.2112A>C (p.Pro704=) c.*1826A>C (n.*1826A>C) c.1929A>C (p.Pro643=) c.*412A>C (n.*412A>C) c.*1936A>C (n.*1936A>C) c.1686A>C (p.Pro562=) c.1402-10547A>C (n.1402-10547A>C) c.2022A>C (p.Pro674=) c.2202A>C (p.Pro734=) c.1869A>C (p.Pro623=) | |
7 | g.117592279A>G | CA164947848 | CFTR | c.2112A>G (p.Pro704=) c.*1826A>G (n.*1826A>G) c.1929A>G (p.Pro643=) c.*412A>G (n.*412A>G) c.*1936A>G (n.*1936A>G) c.1686A>G (p.Pro562=) c.1402-10547A>G (n.1402-10547A>G) c.2022A>G (p.Pro674=) c.2202A>G (p.Pro734=) c.1869A>G (p.Pro623=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592279A>T | CA457449054 | CFTR | c.2112A>T (p.Pro704=) c.*1826A>T (n.*1826A>T) c.1929A>T (p.Pro643=) c.*412A>T (n.*412A>T) c.*1936A>T (n.*1936A>T) c.1686A>T (p.Pro562=) c.1402-10547A>T (n.1402-10547A>T) c.2022A>T (p.Pro674=) c.2202A>T (p.Pro734=) c.1869A>T (p.Pro623=) | |
7 | g.117592280A= | CA1737394779 | CFTR | c.2113A= (p.Ile705=) c.*1827A= (n.*1827A=) c.1930A= (p.Ile644=) c.*413A= (n.*413A=) c.*1937A= (n.*1937A=) c.1687A= (p.Ile563=) c.1402-10546A= (n.1402-10546A=) c.2023A= (p.Ile675=) c.2203A= (p.Ile735=) c.1870A= (p.Ile624=) | |
7 | g.117592280A>C | CA368979794 | CFTR | c.2113A>C (p.Ile705Leu) c.*1827A>C (n.*1827A>C) c.1930A>C (p.Ile644Leu) c.*413A>C (n.*413A>C) c.*1937A>C (n.*1937A>C) c.1687A>C (p.Ile563Leu) c.1402-10546A>C (n.1402-10546A>C) c.2023A>C (p.Ile675Leu) c.2203A>C (p.Ile735Leu) c.1870A>C (p.Ile624Leu) | |
7 | g.117592280A>G | CA4451143 | CFTR | c.2113A>G (p.Ile705Val) c.*1827A>G (n.*1827A>G) c.1930A>G (p.Ile644Val) c.*413A>G (n.*413A>G) c.*1937A>G (n.*1937A>G) c.1687A>G (p.Ile563Val) c.1402-10546A>G (n.1402-10546A>G) c.2023A>G (p.Ile675Val) c.2203A>G (p.Ile735Val) c.1870A>G (p.Ile624Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592280A>T | CA368979795 | CFTR | c.2113A>T (p.Ile705Phe) c.*1827A>T (n.*1827A>T) c.1930A>T (p.Ile644Phe) c.*413A>T (n.*413A>T) c.*1937A>T (n.*1937A>T) c.1687A>T (p.Ile563Phe) c.1402-10546A>T (n.1402-10546A>T) c.2023A>T (p.Ile675Phe) c.2203A>T (p.Ile735Phe) c.1870A>T (p.Ile624Phe) | |
7 | g.117592281T>A | CA368979797 | CFTR | c.2114T>A (p.Ile705Asn) c.*1828T>A (n.*1828T>A) c.1931T>A (p.Ile644Asn) c.*414T>A (n.*414T>A) c.*1938T>A (n.*1938T>A) c.1688T>A (p.Ile563Asn) c.1402-10545T>A (n.1402-10545T>A) c.2024T>A (p.Ile675Asn) c.2204T>A (p.Ile735Asn) c.1871T>A (p.Ile624Asn) | |
7 | g.117592281T>C | CA368979802 | CFTR | c.2114T>C (p.Ile705Thr) c.*1828T>C (n.*1828T>C) c.1931T>C (p.Ile644Thr) c.*414T>C (n.*414T>C) c.*1938T>C (n.*1938T>C) c.1688T>C (p.Ile563Thr) c.1402-10545T>C (n.1402-10545T>C) c.2024T>C (p.Ile675Thr) c.2204T>C (p.Ile735Thr) c.1871T>C (p.Ile624Thr) | |
7 | g.117592281T>G | CA368979800 | CFTR | c.2114T>G (p.Ile705Ser) c.*1828T>G (n.*1828T>G) c.1931T>G (p.Ile644Ser) c.*414T>G (n.*414T>G) c.*1938T>G (n.*1938T>G) c.1688T>G (p.Ile563Ser) c.1402-10545T>G (n.1402-10545T>G) c.2024T>G (p.Ile675Ser) c.2204T>G (p.Ile735Ser) c.1871T>G (p.Ile624Ser) | |
7 | g.117592282C>A | CA457449056 | CFTR | c.2115C>A (p.Ile705=) c.*1829C>A (n.*1829C>A) c.1932C>A (p.Ile644=) c.*415C>A (n.*415C>A) c.*1939C>A (n.*1939C>A) c.1689C>A (p.Ile563=) c.1402-10544C>A (n.1402-10544C>A) c.2025C>A (p.Ile675=) c.2205C>A (p.Ile735=) c.1872C>A (p.Ile624=) | ClinVar dbSNP gnomAD v4 |
7 | g.117592282C= | CA1737394784 | CFTR | c.2115C= (p.Ile705=) c.*1829C= (n.*1829C=) c.1932C= (p.Ile644=) c.*415C= (n.*415C=) c.*1939C= (n.*1939C=) c.1689C= (p.Ile563=) c.1402-10544C= (n.1402-10544C=) c.2025C= (p.Ile675=) c.2205C= (p.Ile735=) c.1872C= (p.Ile624=) | |
7 | g.117592282C>G | CA368979805 | CFTR | c.2115C>G (p.Ile705Met) c.*1829C>G (n.*1829C>G) c.1932C>G (p.Ile644Met) c.*415C>G (n.*415C>G) c.*1939C>G (n.*1939C>G) c.1689C>G (p.Ile563Met) c.1402-10544C>G (n.1402-10544C>G) c.2025C>G (p.Ile675Met) c.2205C>G (p.Ile735Met) c.1872C>G (p.Ile624Met) | |
7 | g.117592282C>T | CA457449055 | CFTR | c.2115C>T (p.Ile705=) c.*1829C>T (n.*1829C>T) c.1932C>T (p.Ile644=) c.*415C>T (n.*415C>T) c.*1939C>T (n.*1939C>T) c.1689C>T (p.Ile563=) c.1402-10544C>T (n.1402-10544C>T) c.2025C>T (p.Ile675=) c.2205C>T (p.Ile735=) c.1872C>T (p.Ile624=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592283A>C | CA368979813 | CFTR | c.2116A>C (p.Asn706His) c.*1830A>C (n.*1830A>C) c.1933A>C (p.Asn645His) c.*416A>C (n.*416A>C) c.*1940A>C (n.*1940A>C) c.1690A>C (p.Asn564His) c.1402-10543A>C (n.1402-10543A>C) c.2026A>C (p.Asn676His) c.2206A>C (p.Asn736His) c.1873A>C (p.Asn625His) | |
7 | g.117592283A>G | CA368979809 | CFTR | c.2116A>G (p.Asn706Asp) c.*1830A>G (n.*1830A>G) c.1933A>G (p.Asn645Asp) c.*416A>G (n.*416A>G) c.*1940A>G (n.*1940A>G) c.1690A>G (p.Asn564Asp) c.1402-10543A>G (n.1402-10543A>G) c.2026A>G (p.Asn676Asp) c.2206A>G (p.Asn736Asp) c.1873A>G (p.Asn625Asp) | |
7 | g.117592283A>T | CA368979812 | CFTR | c.2116A>T (p.Asn706Tyr) c.*1830A>T (n.*1830A>T) c.1933A>T (p.Asn645Tyr) c.*416A>T (n.*416A>T) c.*1940A>T (n.*1940A>T) c.1690A>T (p.Asn564Tyr) c.1402-10543A>T (n.1402-10543A>T) c.2026A>T (p.Asn676Tyr) c.2206A>T (p.Asn736Tyr) c.1873A>T (p.Asn625Tyr) | |
7 | g.117592284A= | CA1737394786 | CFTR | c.2117A= (p.Asn706=) c.*1831A= (n.*1831A=) c.1934A= (p.Asn645=) c.*417A= (n.*417A=) c.*1941A= (n.*1941A=) c.1691A= (p.Asn564=) c.1402-10542A= (n.1402-10542A=) c.2027A= (p.Asn676=) c.2207A= (p.Asn736=) c.1874A= (p.Asn625=) | |
7 | g.117592284A>C | CA368979816 | CFTR | c.2117A>C (p.Asn706Thr) c.*1831A>C (n.*1831A>C) c.1934A>C (p.Asn645Thr) c.*417A>C (n.*417A>C) c.*1941A>C (n.*1941A>C) c.1691A>C (p.Asn564Thr) c.1402-10542A>C (n.1402-10542A>C) c.2027A>C (p.Asn676Thr) c.2207A>C (p.Asn736Thr) c.1874A>C (p.Asn625Thr) | |
7 | g.117592284A>G | CA368979817 | CFTR | c.2117A>G (p.Asn706Ser) c.*1831A>G (n.*1831A>G) c.1934A>G (p.Asn645Ser) c.*417A>G (n.*417A>G) c.*1941A>G (n.*1941A>G) c.1691A>G (p.Asn564Ser) c.1402-10542A>G (n.1402-10542A>G) c.2027A>G (p.Asn676Ser) c.2207A>G (p.Asn736Ser) c.1874A>G (p.Asn625Ser) | |
7 | g.117592284A>T | CA164947853 | CFTR | c.2117A>T (p.Asn706Ile) c.*1831A>T (n.*1831A>T) c.1934A>T (p.Asn645Ile) c.*417A>T (n.*417A>T) c.*1941A>T (n.*1941A>T) c.1691A>T (p.Asn564Ile) c.1402-10542A>T (n.1402-10542A>T) c.2027A>T (p.Asn676Ile) c.2207A>T (p.Asn736Ile) c.1874A>T (p.Asn625Ile) | dbSNP |
7 | g.117592285C>A | CA368979824 | CFTR | c.2118C>A (p.Asn706Lys) c.*1832C>A (n.*1832C>A) c.1935C>A (p.Asn645Lys) c.*418C>A (n.*418C>A) c.*1942C>A (n.*1942C>A) c.1692C>A (p.Asn564Lys) c.1402-10541C>A (n.1402-10541C>A) c.2028C>A (p.Asn676Lys) c.2208C>A (p.Asn736Lys) c.1875C>A (p.Asn625Lys) | |
7 | g.117592285C= | CA1737394790 | CFTR | c.2118C= (p.Asn706=) c.*1832C= (n.*1832C=) c.1935C= (p.Asn645=) c.*418C= (n.*418C=) c.*1942C= (n.*1942C=) c.1692C= (p.Asn564=) c.1402-10541C= (n.1402-10541C=) c.2028C= (p.Asn676=) c.2208C= (p.Asn736=) c.1875C= (p.Asn625=) | |
7 | g.117592285C>G | CA368979825 | CFTR | c.2118C>G (p.Asn706Lys) c.*1832C>G (n.*1832C>G) c.1935C>G (p.Asn645Lys) c.*418C>G (n.*418C>G) c.*1942C>G (n.*1942C>G) c.1692C>G (p.Asn564Lys) c.1402-10541C>G (n.1402-10541C>G) c.2028C>G (p.Asn676Lys) c.2208C>G (p.Asn736Lys) c.1875C>G (p.Asn625Lys) | |
7 | g.117592285C>T | CA457449057 | CFTR | c.2118C>T (p.Asn706=) c.*1832C>T (n.*1832C>T) c.1935C>T (p.Asn645=) c.*418C>T (n.*418C>T) c.*1942C>T (n.*1942C>T) c.1692C>T (p.Asn564=) c.1402-10541C>T (n.1402-10541C>T) c.2028C>T (p.Asn676=) c.2208C>T (p.Asn736=) c.1875C>T (p.Asn625=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592286T>A | CA368979827 | CFTR | c.2119T>A (p.Ser707Thr) c.*1833T>A (n.*1833T>A) c.1936T>A (p.Ser646Thr) c.*419T>A (n.*419T>A) c.*1943T>A (n.*1943T>A) c.1693T>A (p.Ser565Thr) c.1402-10540T>A (n.1402-10540T>A) c.2029T>A (p.Ser677Thr) c.2209T>A (p.Ser737Thr) c.1876T>A (p.Ser626Thr) | |
7 | g.117592286T>C | CA368979829 | CFTR | c.2119T>C (p.Ser707Pro) c.*1833T>C (n.*1833T>C) c.1936T>C (p.Ser646Pro) c.*419T>C (n.*419T>C) c.*1943T>C (n.*1943T>C) c.1693T>C (p.Ser565Pro) c.1402-10540T>C (n.1402-10540T>C) c.2029T>C (p.Ser677Pro) c.2209T>C (p.Ser737Pro) c.1876T>C (p.Ser626Pro) | |
7 | g.117592286T>G | CA368979832 | CFTR | c.2119T>G (p.Ser707Ala) c.*1833T>G (n.*1833T>G) c.1936T>G (p.Ser646Ala) c.*419T>G (n.*419T>G) c.*1943T>G (n.*1943T>G) c.1693T>G (p.Ser565Ala) c.1402-10540T>G (n.1402-10540T>G) c.2029T>G (p.Ser677Ala) c.2209T>G (p.Ser737Ala) c.1876T>G (p.Ser626Ala) | |
7 | g.117592287C>A | CA368979836 | CFTR | c.2120C>A (p.Ser707Tyr) c.*1834C>A (n.*1834C>A) c.1937C>A (p.Ser646Tyr) c.*420C>A (n.*420C>A) c.*1944C>A (n.*1944C>A) c.1694C>A (p.Ser565Tyr) c.1402-10539C>A (n.1402-10539C>A) c.2030C>A (p.Ser677Tyr) c.2210C>A (p.Ser737Tyr) c.1877C>A (p.Ser626Tyr) |