| 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.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) | |
| 7 | g.117592287C= | CA1737394796 | CFTR | c.2120C= (p.Ser707=) c.*1834C= (n.*1834C=) c.1937C= (p.Ser646=) c.*420C= (n.*420C=) c.*1944C= (n.*1944C=) c.1694C= (p.Ser565=) c.1402-10539C= (n.1402-10539C=) c.2030C= (p.Ser677=) c.2210C= (p.Ser737=) c.1877C= (p.Ser626=) | |
| 7 | g.117592287C>G | CA368979840 | CFTR | c.2120C>G (p.Ser707Cys) c.*1834C>G (n.*1834C>G) c.1937C>G (p.Ser646Cys) c.*420C>G (n.*420C>G) c.*1944C>G (n.*1944C>G) c.1694C>G (p.Ser565Cys) c.1402-10539C>G (n.1402-10539C>G) c.2030C>G (p.Ser677Cys) c.2210C>G (p.Ser737Cys) c.1877C>G (p.Ser626Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592287C>T | CA368979843 | CFTR | c.2120C>T (p.Ser707Phe) c.*1834C>T (n.*1834C>T) c.1937C>T (p.Ser646Phe) c.*420C>T (n.*420C>T) c.*1944C>T (n.*1944C>T) c.1694C>T (p.Ser565Phe) c.1402-10539C>T (n.1402-10539C>T) c.2030C>T (p.Ser677Phe) c.2210C>T (p.Ser737Phe) c.1877C>T (p.Ser626Phe) | |
| 7 | g.117592288T>A | CA457449058 | CFTR | c.2121T>A (p.Ser707=) c.*1835T>A (n.*1835T>A) c.1938T>A (p.Ser646=) c.*421T>A (n.*421T>A) c.*1945T>A (n.*1945T>A) c.1695T>A (p.Ser565=) c.1402-10538T>A (n.1402-10538T>A) c.2031T>A (p.Ser677=) c.2211T>A (p.Ser737=) c.1878T>A (p.Ser626=) | ClinVar dbSNP |
| 7 | g.117592288T>C | CA457449059 | CFTR | c.2121T>C (p.Ser707=) c.*1835T>C (n.*1835T>C) c.1938T>C (p.Ser646=) c.*421T>C (n.*421T>C) c.*1945T>C (n.*1945T>C) c.1695T>C (p.Ser565=) c.1402-10538T>C (n.1402-10538T>C) c.2031T>C (p.Ser677=) c.2211T>C (p.Ser737=) c.1878T>C (p.Ser626=) | |
| 7 | g.117592288T>G | CA457449060 | CFTR | c.2121T>G (p.Ser707=) c.*1835T>G (n.*1835T>G) c.1938T>G (p.Ser646=) c.*421T>G (n.*421T>G) c.*1945T>G (n.*1945T>G) c.1695T>G (p.Ser565=) c.1402-10538T>G (n.1402-10538T>G) c.2031T>G (p.Ser677=) c.2211T>G (p.Ser737=) c.1878T>G (p.Ser626=) | |
| 7 | g.117592289A>C | CA368979844 | CFTR | c.2122A>C (p.Ile708Leu) c.*1836A>C (n.*1836A>C) c.1939A>C (p.Ile647Leu) c.*422A>C (n.*422A>C) c.*1946A>C (n.*1946A>C) c.1696A>C (p.Ile566Leu) c.1402-10537A>C (n.1402-10537A>C) c.2032A>C (p.Ile678Leu) c.2212A>C (p.Ile738Leu) c.1879A>C (p.Ile627Leu) | |
| 7 | g.117592289A>G | CA368979847 | CFTR | c.2122A>G (p.Ile708Val) c.*1836A>G (n.*1836A>G) c.1939A>G (p.Ile647Val) c.*422A>G (n.*422A>G) c.*1946A>G (n.*1946A>G) c.1696A>G (p.Ile566Val) c.1402-10537A>G (n.1402-10537A>G) c.2032A>G (p.Ile678Val) c.2212A>G (p.Ile738Val) c.1879A>G (p.Ile627Val) | COSMIC |
| 7 | g.117592289A>T | CA368979845 | CFTR | c.2122A>T (p.Ile708Leu) c.*1836A>T (n.*1836A>T) c.1939A>T (p.Ile647Leu) c.*422A>T (n.*422A>T) c.*1946A>T (n.*1946A>T) c.1696A>T (p.Ile566Leu) c.1402-10537A>T (n.1402-10537A>T) c.2032A>T (p.Ile678Leu) c.2212A>T (p.Ile738Leu) c.1879A>T (p.Ile627Leu) | |
| 7 | g.117592290T>A | CA368979850 | CFTR | c.2123T>A (p.Ile708Lys) c.*1837T>A (n.*1837T>A) c.1940T>A (p.Ile647Lys) c.*423T>A (n.*423T>A) c.*1947T>A (n.*1947T>A) c.1697T>A (p.Ile566Lys) c.1402-10536T>A (n.1402-10536T>A) c.2033T>A (p.Ile678Lys) c.2213T>A (p.Ile738Lys) c.1880T>A (p.Ile627Lys) | |
| 7 | g.117592290T>C | CA4451144 | CFTR | c.2123T>C (p.Ile708Thr) c.*1837T>C (n.*1837T>C) c.1940T>C (p.Ile647Thr) c.*423T>C (n.*423T>C) c.*1947T>C (n.*1947T>C) c.1697T>C (p.Ile566Thr) c.1402-10536T>C (n.1402-10536T>C) c.2033T>C (p.Ile678Thr) c.2213T>C (p.Ile738Thr) c.1880T>C (p.Ile627Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592290T>G | CA368979859 | CFTR | c.2123T>G (p.Ile708Arg) c.*1837T>G (n.*1837T>G) c.1940T>G (p.Ile647Arg) c.*423T>G (n.*423T>G) c.*1947T>G (n.*1947T>G) c.1697T>G (p.Ile566Arg) c.1402-10536T>G (n.1402-10536T>G) c.2033T>G (p.Ile678Arg) c.2213T>G (p.Ile738Arg) c.1880T>G (p.Ile627Arg) | |
| 7 | g.117592290T= | CA1737394807 | CFTR | c.2123T= (p.Ile708=) c.*1837T= (n.*1837T=) c.1940T= (p.Ile647=) c.*423T= (n.*423T=) c.*1947T= (n.*1947T=) c.1697T= (p.Ile566=) c.1402-10536T= (n.1402-10536T=) c.2033T= (p.Ile678=) c.2213T= (p.Ile738=) c.1880T= (p.Ile627=) | |
| 7 | g.117592291A>C | CA457449061 | CFTR | c.2124A>C (p.Ile708=) c.*1838A>C (n.*1838A>C) c.1941A>C (p.Ile647=) c.*424A>C (n.*424A>C) c.*1948A>C (n.*1948A>C) c.1698A>C (p.Ile566=) c.1402-10535A>C (n.1402-10535A>C) c.2034A>C (p.Ile678=) c.2214A>C (p.Ile738=) c.1881A>C (p.Ile627=) | gnomAD v4 |
| 7 | g.117592291A>G | CA368979862 | CFTR | c.2124A>G (p.Ile708Met) c.*1838A>G (n.*1838A>G) c.1941A>G (p.Ile647Met) c.*424A>G (n.*424A>G) c.*1948A>G (n.*1948A>G) c.1698A>G (p.Ile566Met) c.1402-10535A>G (n.1402-10535A>G) c.2034A>G (p.Ile678Met) c.2214A>G (p.Ile738Met) c.1881A>G (p.Ile627Met) | |
| 7 | g.117592291A>T | CA457449062 | CFTR | c.2124A>T (p.Ile708=) c.*1838A>T (n.*1838A>T) c.1941A>T (p.Ile647=) c.*424A>T (n.*424A>T) c.*1948A>T (n.*1948A>T) c.1698A>T (p.Ile566=) c.1402-10535A>T (n.1402-10535A>T) c.2034A>T (p.Ile678=) c.2214A>T (p.Ile738=) c.1881A>T (p.Ile627=) | |
| 7 | g.117592292C>A | CA457449063 | CFTR | c.2125C>A (p.Arg709=) c.*1839C>A (n.*1839C>A) c.1942C>A (p.Arg648=) c.*425C>A (n.*425C>A) c.*1949C>A (n.*1949C>A) c.1699C>A (p.Arg567=) c.1402-10534C>A (n.1402-10534C>A) c.2035C>A (p.Arg679=) c.2215C>A (p.Arg739=) c.1882C>A (p.Arg628=) | |
| 7 | g.117592292C= | CA1737394818 | CFTR | c.2125C= (p.Arg709=) c.*1839C= (n.*1839C=) c.1942C= (p.Arg648=) c.*425C= (n.*425C=) c.*1949C= (n.*1949C=) c.1699C= (p.Arg567=) c.1402-10534C= (n.1402-10534C=) c.2035C= (p.Arg679=) c.2215C= (p.Arg739=) c.1882C= (p.Arg628=) | |
| 7 | g.117592292C>G | CA368979863 | CFTR | c.2125C>G (p.Arg709Gly) c.*1839C>G (n.*1839C>G) c.1942C>G (p.Arg648Gly) c.*425C>G (n.*425C>G) c.*1949C>G (n.*1949C>G) c.1699C>G (p.Arg567Gly) c.1402-10534C>G (n.1402-10534C>G) c.2035C>G (p.Arg679Gly) c.2215C>G (p.Arg739Gly) c.1882C>G (p.Arg628Gly) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592292C>T | CA328093 | CFTR | c.2125C>T (p.Arg709Ter) c.*1839C>T (n.*1839C>T) c.1942C>T (p.Arg648Ter) c.*425C>T (n.*425C>T) c.*1949C>T (n.*1949C>T) c.1699C>T (p.Arg567Ter) c.1402-10534C>T (n.1402-10534C>T) c.2035C>T (p.Arg679Ter) c.2215C>T (p.Arg739Ter) c.1882C>T (p.Arg628Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117592292_117592293delinsCG | CA1737394816 | CFTR | c.2125_2126delinsCG (p.Arg709=) c.*1839_*1840delinsCG (n.*1839_*1840delinsCG) c.1942_1943delinsCG (p.Arg648=) c.*425_*426delinsCG (n.*425_*426delinsCG) c.*1949_*1950delinsCG (n.*1949_*1950delinsCG) c.1699_1700delinsCG (p.Arg567=) c.1402-10534_1402-10533delinsCG (n.1402-10534_1402-10533delinsCG) c.2035_2036delinsCG (p.Arg679=) c.2215_2216delinsCG (p.Arg739=) c.1882_1883delinsCG (p.Arg628=) | |
| 7 | g.117592293del | CA164947854 | CFTR | c.2126del (p.Arg709GlnfsTer13) c.*1840del (n.*1840del) c.1943del (p.Arg648GlnfsTer13) c.*426del (n.*426del) c.*1950del (n.*1950del) c.1700del (p.Arg567GlnfsTer13) c.1402-10533del (n.1402-10533del) c.2036del (p.Arg679GlnfsTer13) c.2216del (p.Arg739GlnfsTer13) c.1883del (p.Arg628GlnfsTer13) | dbSNP |
| 7 | g.117592293G>A | CA326749 | CFTR | c.2126G>A (p.Arg709Gln) c.*1840G>A (n.*1840G>A) c.1943G>A (p.Arg648Gln) c.*426G>A (n.*426G>A) c.*1950G>A (n.*1950G>A) c.1700G>A (p.Arg567Gln) c.1402-10533G>A (n.1402-10533G>A) c.2036G>A (p.Arg679Gln) c.2216G>A (p.Arg739Gln) c.1883G>A (p.Arg628Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117592293G>C | CA368979868 | CFTR | c.2126G>C (p.Arg709Pro) c.*1840G>C (n.*1840G>C) c.1943G>C (p.Arg648Pro) c.*426G>C (n.*426G>C) c.*1950G>C (n.*1950G>C) c.1700G>C (p.Arg567Pro) c.1402-10533G>C (n.1402-10533G>C) c.2036G>C (p.Arg679Pro) c.2216G>C (p.Arg739Pro) c.1883G>C (p.Arg628Pro) | |
| 7 | g.117592293G= | CA1737394826 | CFTR | c.2126G= (p.Arg709=) c.*1840G= (n.*1840G=) c.1943G= (p.Arg648=) c.*426G= (n.*426G=) c.*1950G= (n.*1950G=) c.1700G= (p.Arg567=) c.1402-10533G= (n.1402-10533G=) c.2036G= (p.Arg679=) c.2216G= (p.Arg739=) c.1883G= (p.Arg628=) | |
| 7 | g.117592293G>T | CA368979871 | CFTR | c.2126G>T (p.Arg709Leu) c.*1840G>T (n.*1840G>T) c.1943G>T (p.Arg648Leu) c.*426G>T (n.*426G>T) c.*1950G>T (n.*1950G>T) c.1700G>T (p.Arg567Leu) c.1402-10533G>T (n.1402-10533G>T) c.2036G>T (p.Arg679Leu) c.2216G>T (p.Arg739Leu) c.1883G>T (p.Arg628Leu) | |
| 7 | g.117592294A>C | CA457449064 | CFTR | c.2127A>C (p.Arg709=) c.*1841A>C (n.*1841A>C) c.1944A>C (p.Arg648=) c.*427A>C (n.*427A>C) c.*1951A>C (n.*1951A>C) c.1701A>C (p.Arg567=) c.1402-10532A>C (n.1402-10532A>C) c.2037A>C (p.Arg679=) c.2217A>C (p.Arg739=) c.1884A>C (p.Arg628=) | |
| 7 | g.117592294A>G | CA457449065 | CFTR | c.2127A>G (p.Arg709=) c.*1841A>G (n.*1841A>G) c.1944A>G (p.Arg648=) c.*427A>G (n.*427A>G) c.*1951A>G (n.*1951A>G) c.1701A>G (p.Arg567=) c.1402-10532A>G (n.1402-10532A>G) c.2037A>G (p.Arg679=) c.2217A>G (p.Arg739=) c.1884A>G (p.Arg628=) | ClinVar dbSNP |
| 7 | g.117592294A>T | CA457449066 | CFTR | c.2127A>T (p.Arg709=) c.*1841A>T (n.*1841A>T) c.1944A>T (p.Arg648=) c.*427A>T (n.*427A>T) c.*1951A>T (n.*1951A>T) c.1701A>T (p.Arg567=) c.1402-10532A>T (n.1402-10532A>T) c.2037A>T (p.Arg679=) c.2217A>T (p.Arg739=) c.1884A>T (p.Arg628=) | |
| 7 | g.117592295A= | CA1737394835 | CFTR | c.2128A= (p.Lys710=) c.*1842A= (n.*1842A=) c.1945A= (p.Lys649=) c.*428A= (n.*428A=) c.*1952A= (n.*1952A=) c.1702A= (p.Lys568=) c.1402-10531A= (n.1402-10531A=) c.2038A= (p.Lys680=) c.2218A= (p.Lys740=) c.1885A= (p.Lys629=) |