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.117592194C>A | CA368979298 | CFTR | c.2027C>A (p.Pro676His) c.*1741C>A (n.*1741C>A) c.1844C>A (p.Pro615His) c.*327C>A (n.*327C>A) c.*1851C>A (n.*1851C>A) c.1601C>A (p.Pro534His) c.1402-10632C>A (n.1402-10632C>A) c.1937C>A (p.Pro646His) c.2117C>A (p.Pro706His) c.1784C>A (p.Pro595His) | |
| 7 | g.117592194C>G | CA368979300 | CFTR | c.2027C>G (p.Pro676Arg) c.*1741C>G (n.*1741C>G) c.1844C>G (p.Pro615Arg) c.*327C>G (n.*327C>G) c.*1851C>G (n.*1851C>G) c.1601C>G (p.Pro534Arg) c.1402-10632C>G (n.1402-10632C>G) c.1937C>G (p.Pro646Arg) c.2117C>G (p.Pro706Arg) c.1784C>G (p.Pro595Arg) | |
| 7 | g.117592194C>T | CA368979302 | CFTR | c.2027C>T (p.Pro676Leu) c.*1741C>T (n.*1741C>T) c.1844C>T (p.Pro615Leu) c.*327C>T (n.*327C>T) c.*1851C>T (n.*1851C>T) c.1601C>T (p.Pro534Leu) c.1402-10632C>T (n.1402-10632C>T) c.1937C>T (p.Pro646Leu) c.2117C>T (p.Pro706Leu) c.1784C>T (p.Pro595Leu) | |
| 7 | g.117592195T>A | CA457449006 | CFTR | c.2028T>A (p.Pro676=) c.*1742T>A (n.*1742T>A) c.1845T>A (p.Pro615=) c.*328T>A (n.*328T>A) c.*1852T>A (n.*1852T>A) c.1602T>A (p.Pro534=) c.1402-10631T>A (n.1402-10631T>A) c.1938T>A (p.Pro646=) c.2118T>A (p.Pro706=) c.1785T>A (p.Pro595=) | |
| 7 | g.117592195T>C | CA4451131 | CFTR | c.2028T>C (p.Pro676=) c.*1742T>C (n.*1742T>C) c.1845T>C (p.Pro615=) c.*328T>C (n.*328T>C) c.*1852T>C (n.*1852T>C) c.1602T>C (p.Pro534=) c.1402-10631T>C (n.1402-10631T>C) c.1938T>C (p.Pro646=) c.2118T>C (p.Pro706=) c.1785T>C (p.Pro595=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592195T>G | CA457449007 | CFTR | c.2028T>G (p.Pro676=) c.*1742T>G (n.*1742T>G) c.1845T>G (p.Pro615=) c.*328T>G (n.*328T>G) c.*1852T>G (n.*1852T>G) c.1602T>G (p.Pro534=) c.1402-10631T>G (n.1402-10631T>G) c.1938T>G (p.Pro646=) c.2118T>G (p.Pro706=) c.1785T>G (p.Pro595=) | |
| 7 | g.117592195T= | CA1737394523 | CFTR | c.2028T= (p.Pro676=) c.*1742T= (n.*1742T=) c.1845T= (p.Pro615=) c.*328T= (n.*328T=) c.*1852T= (n.*1852T=) c.1602T= (p.Pro534=) c.1402-10631T= (n.1402-10631T=) c.1938T= (p.Pro646=) c.2118T= (p.Pro706=) c.1785T= (p.Pro595=) | |
| 7 | g.117592196G>A | CA368979307 | CFTR | c.2029G>A (p.Val677Ile) c.*1743G>A (n.*1743G>A) c.1846G>A (p.Val616Ile) c.*329G>A (n.*329G>A) c.*1853G>A (n.*1853G>A) c.1603G>A (p.Val535Ile) c.1402-10630G>A (n.1402-10630G>A) c.1939G>A (p.Val647Ile) c.2119G>A (p.Val707Ile) c.1786G>A (p.Val596Ile) | |
| 7 | g.117592196G>C | CA368979308 | CFTR | c.2029G>C (p.Val677Leu) c.*1743G>C (n.*1743G>C) c.1846G>C (p.Val616Leu) c.*329G>C (n.*329G>C) c.*1853G>C (n.*1853G>C) c.1603G>C (p.Val535Leu) c.1402-10630G>C (n.1402-10630G>C) c.1939G>C (p.Val647Leu) c.2119G>C (p.Val707Leu) c.1786G>C (p.Val596Leu) | |
| 7 | g.117592196G>T | CA368979310 | CFTR | c.2029G>T (p.Val677Phe) c.*1743G>T (n.*1743G>T) c.1846G>T (p.Val616Phe) c.*329G>T (n.*329G>T) c.*1853G>T (n.*1853G>T) c.1603G>T (p.Val535Phe) c.1402-10630G>T (n.1402-10630G>T) c.1939G>T (p.Val647Phe) c.2119G>T (p.Val707Phe) c.1786G>T (p.Val596Phe) | |
| 7 | g.117592197T>A | CA368979313 | CFTR | c.2030T>A (p.Val677Asp) c.*1744T>A (n.*1744T>A) c.1847T>A (p.Val616Asp) c.*330T>A (n.*330T>A) c.*1854T>A (n.*1854T>A) c.1604T>A (p.Val535Asp) c.1402-10629T>A (n.1402-10629T>A) c.1940T>A (p.Val647Asp) c.2120T>A (p.Val707Asp) c.1787T>A (p.Val596Asp) | gnomAD v4 |
| 7 | g.117592197T>C | CA368979315 | CFTR | c.2030T>C (p.Val677Ala) c.*1744T>C (n.*1744T>C) c.1847T>C (p.Val616Ala) c.*330T>C (n.*330T>C) c.*1854T>C (n.*1854T>C) c.1604T>C (p.Val535Ala) c.1402-10629T>C (n.1402-10629T>C) c.1940T>C (p.Val647Ala) c.2120T>C (p.Val707Ala) c.1787T>C (p.Val596Ala) | |
| 7 | g.117592197T>G | CA368979317 | CFTR | c.2030T>G (p.Val677Gly) c.*1744T>G (n.*1744T>G) c.1847T>G (p.Val616Gly) c.*330T>G (n.*330T>G) c.*1854T>G (n.*1854T>G) c.1604T>G (p.Val535Gly) c.1402-10629T>G (n.1402-10629T>G) c.1940T>G (p.Val647Gly) c.2120T>G (p.Val707Gly) c.1787T>G (p.Val596Gly) | |
| 7 | g.117592198C>A | CA457449008 | CFTR | c.2031C>A (p.Val677=) c.*1745C>A (n.*1745C>A) c.1848C>A (p.Val616=) c.*331C>A (n.*331C>A) c.*1855C>A (n.*1855C>A) c.1605C>A (p.Val535=) c.1402-10628C>A (n.1402-10628C>A) c.1941C>A (p.Val647=) c.2121C>A (p.Val707=) c.1788C>A (p.Val596=) | |
| 7 | g.117592198C>G | CA457449010 | CFTR | c.2031C>G (p.Val677=) c.*1745C>G (n.*1745C>G) c.1848C>G (p.Val616=) c.*331C>G (n.*331C>G) c.*1855C>G (n.*1855C>G) c.1605C>G (p.Val535=) c.1402-10628C>G (n.1402-10628C>G) c.1941C>G (p.Val647=) c.2121C>G (p.Val707=) c.1788C>G (p.Val596=) | |
| 7 | g.117592198C>T | CA457449009 | CFTR | c.2031C>T (p.Val677=) c.*1745C>T (n.*1745C>T) c.1848C>T (p.Val616=) c.*331C>T (n.*331C>T) c.*1855C>T (n.*1855C>T) c.1605C>T (p.Val535=) c.1402-10628C>T (n.1402-10628C>T) c.1941C>T (p.Val647=) c.2121C>T (p.Val707=) c.1788C>T (p.Val596=) | |
| 7 | g.117592199T>A | CA368979319 | CFTR | c.2032T>A (p.Ser678Thr) c.*1746T>A (n.*1746T>A) c.1849T>A (p.Ser617Thr) c.*332T>A (n.*332T>A) c.*1856T>A (n.*1856T>A) c.1606T>A (p.Ser536Thr) c.1402-10627T>A (n.1402-10627T>A) c.1942T>A (p.Ser648Thr) c.2122T>A (p.Ser708Thr) c.1789T>A (p.Ser597Thr) | |
| 7 | g.117592199T>C | CA368979323 | CFTR | c.2032T>C (p.Ser678Pro) c.*1746T>C (n.*1746T>C) c.1849T>C (p.Ser617Pro) c.*332T>C (n.*332T>C) c.*1856T>C (n.*1856T>C) c.1606T>C (p.Ser536Pro) c.1402-10627T>C (n.1402-10627T>C) c.1942T>C (p.Ser648Pro) c.2122T>C (p.Ser708Pro) c.1789T>C (p.Ser597Pro) | gnomAD v4 |
| 7 | g.117592199T>G | CA368979321 | CFTR | c.2032T>G (p.Ser678Ala) c.*1746T>G (n.*1746T>G) c.1849T>G (p.Ser617Ala) c.*332T>G (n.*332T>G) c.*1856T>G (n.*1856T>G) c.1606T>G (p.Ser536Ala) c.1402-10627T>G (n.1402-10627T>G) c.1942T>G (p.Ser648Ala) c.2122T>G (p.Ser708Ala) c.1789T>G (p.Ser597Ala) | |
| 7 | g.117592200C>A | CA368979326 | CFTR | c.2033C>A (p.Ser678Tyr) c.*1747C>A (n.*1747C>A) c.1850C>A (p.Ser617Tyr) c.*333C>A (n.*333C>A) c.*1857C>A (n.*1857C>A) c.1607C>A (p.Ser536Tyr) c.1402-10626C>A (n.1402-10626C>A) c.1943C>A (p.Ser648Tyr) c.2123C>A (p.Ser708Tyr) c.1790C>A (p.Ser597Tyr) | |
| 7 | g.117592200C= | CA1737394526 | CFTR | c.2033C= (p.Ser678=) c.*1747C= (n.*1747C=) c.1850C= (p.Ser617=) c.*333C= (n.*333C=) c.*1857C= (n.*1857C=) c.1607C= (p.Ser536=) c.1402-10626C= (n.1402-10626C=) c.1943C= (p.Ser648=) c.2123C= (p.Ser708=) c.1790C= (p.Ser597=) | |
| 7 | g.117592200C>G | CA368979327 | CFTR | c.2033C>G (p.Ser678Cys) c.*1747C>G (n.*1747C>G) c.1850C>G (p.Ser617Cys) c.*333C>G (n.*333C>G) c.*1857C>G (n.*1857C>G) c.1607C>G (p.Ser536Cys) c.1402-10626C>G (n.1402-10626C>G) c.1943C>G (p.Ser648Cys) c.2123C>G (p.Ser708Cys) c.1790C>G (p.Ser597Cys) | |
| 7 | g.117592200C>T | CA4451132 | CFTR | c.2033C>T (p.Ser678Phe) c.*1747C>T (n.*1747C>T) c.1850C>T (p.Ser617Phe) c.*333C>T (n.*333C>T) c.*1857C>T (n.*1857C>T) c.1607C>T (p.Ser536Phe) c.1402-10626C>T (n.1402-10626C>T) c.1943C>T (p.Ser648Phe) c.2123C>T (p.Ser708Phe) c.1790C>T (p.Ser597Phe) | ClinVar dbSNP ExAC gnomAD v4 |
| 7 | g.117592201C>A | CA457449011 | CFTR | c.2034C>A (p.Ser678=) c.*1748C>A (n.*1748C>A) c.1851C>A (p.Ser617=) c.*334C>A (n.*334C>A) c.*1858C>A (n.*1858C>A) c.1608C>A (p.Ser536=) c.1402-10625C>A (n.1402-10625C>A) c.1944C>A (p.Ser648=) c.2124C>A (p.Ser708=) c.1791C>A (p.Ser597=) | |
| 7 | g.117592201C>G | CA457449012 | CFTR | c.2034C>G (p.Ser678=) c.*1748C>G (n.*1748C>G) c.1851C>G (p.Ser617=) c.*334C>G (n.*334C>G) c.*1858C>G (n.*1858C>G) c.1608C>G (p.Ser536=) c.1402-10625C>G (n.1402-10625C>G) c.1944C>G (p.Ser648=) c.2124C>G (p.Ser708=) c.1791C>G (p.Ser597=) | |
| 7 | g.117592201C>T | CA457449013 | CFTR | c.2034C>T (p.Ser678=) c.*1748C>T (n.*1748C>T) c.1851C>T (p.Ser617=) c.*334C>T (n.*334C>T) c.*1858C>T (n.*1858C>T) c.1608C>T (p.Ser536=) c.1402-10625C>T (n.1402-10625C>T) c.1944C>T (p.Ser648=) c.2124C>T (p.Ser708=) c.1791C>T (p.Ser597=) | |
| 7 | g.117592202T>A | CA368979333 | CFTR | c.2035T>A (p.Trp679Arg) c.*1749T>A (n.*1749T>A) c.1852T>A (p.Trp618Arg) c.*335T>A (n.*335T>A) c.*1859T>A (n.*1859T>A) c.1609T>A (p.Trp537Arg) c.1402-10624T>A (n.1402-10624T>A) c.1945T>A (p.Trp649Arg) c.2125T>A (p.Trp709Arg) c.1792T>A (p.Trp598Arg) | |
| 7 | g.117592202T>C | CA368979334 | CFTR | c.2035T>C (p.Trp679Arg) c.*1749T>C (n.*1749T>C) c.1852T>C (p.Trp618Arg) c.*335T>C (n.*335T>C) c.*1859T>C (n.*1859T>C) c.1609T>C (p.Trp537Arg) c.1402-10624T>C (n.1402-10624T>C) c.1945T>C (p.Trp649Arg) c.2125T>C (p.Trp709Arg) c.1792T>C (p.Trp598Arg) | ClinVar |
| 7 | g.117592202T>G | CA368979336 | CFTR | c.2035T>G (p.Trp679Gly) c.*1749T>G (n.*1749T>G) c.1852T>G (p.Trp618Gly) c.*335T>G (n.*335T>G) c.*1859T>G (n.*1859T>G) c.1609T>G (p.Trp537Gly) c.1402-10624T>G (n.1402-10624T>G) c.1945T>G (p.Trp649Gly) c.2125T>G (p.Trp709Gly) c.1792T>G (p.Trp598Gly) | |
| 7 | g.117592203G>A | CA326734 | CFTR | c.2036G>A (p.Trp679Ter) c.*1750G>A (n.*1750G>A) c.1853G>A (p.Trp618Ter) c.*336G>A (n.*336G>A) c.*1860G>A (n.*1860G>A) c.1610G>A (p.Trp537Ter) c.1402-10623G>A (n.1402-10623G>A) c.1946G>A (p.Trp649Ter) c.2126G>A (p.Trp709Ter) c.1793G>A (p.Trp598Ter) | ClinVar dbSNP |
| 7 | g.117592203G>C | CA368979338 | CFTR | c.2036G>C (p.Trp679Ser) c.*1750G>C (n.*1750G>C) c.1853G>C (p.Trp618Ser) c.*336G>C (n.*336G>C) c.*1860G>C (n.*1860G>C) c.1610G>C (p.Trp537Ser) c.1402-10623G>C (n.1402-10623G>C) c.1946G>C (p.Trp649Ser) c.2126G>C (p.Trp709Ser) c.1793G>C (p.Trp598Ser) | |
| 7 | g.117592203G= | CA1737394531 | CFTR | c.2036G= (p.Trp679=) c.*1750G= (n.*1750G=) c.1853G= (p.Trp618=) c.*336G= (n.*336G=) c.*1860G= (n.*1860G=) c.1610G= (p.Trp537=) c.1402-10623G= (n.1402-10623G=) c.1946G= (p.Trp649=) c.2126G= (p.Trp709=) c.1793G= (p.Trp598=) | |
| 7 | g.117592203G>T | CA368979340 | CFTR | c.2036G>T (p.Trp679Leu) c.*1750G>T (n.*1750G>T) c.1853G>T (p.Trp618Leu) c.*336G>T (n.*336G>T) c.*1860G>T (n.*1860G>T) c.1610G>T (p.Trp537Leu) c.1402-10623G>T (n.1402-10623G>T) c.1946G>T (p.Trp649Leu) c.2126G>T (p.Trp709Leu) c.1793G>T (p.Trp598Leu) | |
| 7 | g.117592204G>A | CA368979342 | CFTR | c.2037G>A (p.Trp679Ter) c.*1751G>A (n.*1751G>A) c.1854G>A (p.Trp618Ter) c.*337G>A (n.*337G>A) c.*1861G>A (n.*1861G>A) c.1611G>A (p.Trp537Ter) c.1402-10622G>A (n.1402-10622G>A) c.1947G>A (p.Trp649Ter) c.2127G>A (p.Trp709Ter) c.1794G>A (p.Trp598Ter) | gnomAD v4 |
| 7 | g.117592204G>C | CA368979344 | CFTR | c.2037G>C (p.Trp679Cys) c.*1751G>C (n.*1751G>C) c.1854G>C (p.Trp618Cys) c.*337G>C (n.*337G>C) c.*1861G>C (n.*1861G>C) c.1611G>C (p.Trp537Cys) c.1402-10622G>C (n.1402-10622G>C) c.1947G>C (p.Trp649Cys) c.2127G>C (p.Trp709Cys) c.1794G>C (p.Trp598Cys) | |
| 7 | g.117592204G>T | CA368979347 | CFTR | c.2037G>T (p.Trp679Cys) c.*1751G>T (n.*1751G>T) c.1854G>T (p.Trp618Cys) c.*337G>T (n.*337G>T) c.*1861G>T (n.*1861G>T) c.1611G>T (p.Trp537Cys) c.1402-10622G>T (n.1402-10622G>T) c.1947G>T (p.Trp649Cys) c.2127G>T (p.Trp709Cys) c.1794G>T (p.Trp598Cys) | |
| 7 | g.117592205A>C | CA368979350 | CFTR | c.2038A>C (p.Thr680Pro) c.*1752A>C (n.*1752A>C) c.1855A>C (p.Thr619Pro) c.*338A>C (n.*338A>C) c.*1862A>C (n.*1862A>C) c.1612A>C (p.Thr538Pro) c.1402-10621A>C (n.1402-10621A>C) c.1948A>C (p.Thr650Pro) c.2128A>C (p.Thr710Pro) c.1795A>C (p.Thr599Pro) | |
| 7 | g.117592205A>G | CA368979352 | CFTR | c.2038A>G (p.Thr680Ala) c.*1752A>G (n.*1752A>G) c.1855A>G (p.Thr619Ala) c.*338A>G (n.*338A>G) c.*1862A>G (n.*1862A>G) c.1612A>G (p.Thr538Ala) c.1402-10621A>G (n.1402-10621A>G) c.1948A>G (p.Thr650Ala) c.2128A>G (p.Thr710Ala) c.1795A>G (p.Thr599Ala) | |
| 7 | g.117592205A>T | CA368979348 | CFTR | c.2038A>T (p.Thr680Ser) c.*1752A>T (n.*1752A>T) c.1855A>T (p.Thr619Ser) c.*338A>T (n.*338A>T) c.*1862A>T (n.*1862A>T) c.1612A>T (p.Thr538Ser) c.1402-10621A>T (n.1402-10621A>T) c.1948A>T (p.Thr650Ser) c.2128A>T (p.Thr710Ser) c.1795A>T (p.Thr599Ser) | |
| 7 | g.117592206C>A | CA368979356 | CFTR | c.2039C>A (p.Thr680Lys) c.*1753C>A (n.*1753C>A) c.1856C>A (p.Thr619Lys) c.*339C>A (n.*339C>A) c.*1863C>A (n.*1863C>A) c.1613C>A (p.Thr538Lys) c.1402-10620C>A (n.1402-10620C>A) c.1949C>A (p.Thr650Lys) c.2129C>A (p.Thr710Lys) c.1796C>A (p.Thr599Lys) | gnomAD v3 gnomAD v4 |
| 7 | g.117592206C>G | CA368979357 | CFTR | c.2039C>G (p.Thr680Arg) c.*1753C>G (n.*1753C>G) c.1856C>G (p.Thr619Arg) c.*339C>G (n.*339C>G) c.*1863C>G (n.*1863C>G) c.1613C>G (p.Thr538Arg) c.1402-10620C>G (n.1402-10620C>G) c.1949C>G (p.Thr650Arg) c.2129C>G (p.Thr710Arg) c.1796C>G (p.Thr599Arg) | gnomAD v4 |
| 7 | g.117592206C>T | CA368979360 | CFTR | c.2039C>T (p.Thr680Ile) c.*1753C>T (n.*1753C>T) c.1856C>T (p.Thr619Ile) c.*339C>T (n.*339C>T) c.*1863C>T (n.*1863C>T) c.1613C>T (p.Thr538Ile) c.1402-10620C>T (n.1402-10620C>T) c.1949C>T (p.Thr650Ile) c.2129C>T (p.Thr710Ile) c.1796C>T (p.Thr599Ile) | |
| 7 | g.117592207A>C | CA457449014 | CFTR | c.2040A>C (p.Thr680=) c.*1754A>C (n.*1754A>C) c.1857A>C (p.Thr619=) c.*340A>C (n.*340A>C) c.*1864A>C (n.*1864A>C) c.1614A>C (p.Thr538=) c.1402-10619A>C (n.1402-10619A>C) c.1950A>C (p.Thr650=) c.2130A>C (p.Thr710=) c.1797A>C (p.Thr599=) | gnomAD v4 |
| 7 | g.117592207A>G | CA457449015 | CFTR | c.2040A>G (p.Thr680=) c.*1754A>G (n.*1754A>G) c.1857A>G (p.Thr619=) c.*340A>G (n.*340A>G) c.*1864A>G (n.*1864A>G) c.1614A>G (p.Thr538=) c.1402-10619A>G (n.1402-10619A>G) c.1950A>G (p.Thr650=) c.2130A>G (p.Thr710=) c.1797A>G (p.Thr599=) | |
| 7 | g.117592207A>T | CA457449016 | CFTR | c.2040A>T (p.Thr680=) c.*1754A>T (n.*1754A>T) c.1857A>T (p.Thr619=) c.*340A>T (n.*340A>T) c.*1864A>T (n.*1864A>T) c.1614A>T (p.Thr538=) c.1402-10619A>T (n.1402-10619A>T) c.1950A>T (p.Thr650=) c.2130A>T (p.Thr710=) c.1797A>T (p.Thr599=) | |
| 7 | g.117592208_117592209del | CA913111879 | CFTR | c.2041_2042del (p.Glu681AsnfsTer7) c.*1755_*1756del (n.*1755_*1756del) c.1858_1859del (p.Glu620AsnfsTer7) c.*341_*342del (n.*341_*342del) c.*1865_*1866del (n.*1865_*1866del) c.1615_1616del (p.Glu539AsnfsTer7) c.1402-10618_1402-10617del (n.1402-10618_1402-10617del) c.1951_1952del (p.Glu651AsnfsTer7) c.2131_2132del (p.Glu711AsnfsTer7) c.1798_1799del (p.Glu600AsnfsTer7) | |
| 7 | g.117592208G>A | CA368979363 | CFTR | c.2041G>A (p.Glu681Lys) c.*1755G>A (n.*1755G>A) c.1858G>A (p.Glu620Lys) c.*341G>A (n.*341G>A) c.*1865G>A (n.*1865G>A) c.1615G>A (p.Glu539Lys) c.1402-10618G>A (n.1402-10618G>A) c.1951G>A (p.Glu651Lys) c.2131G>A (p.Glu711Lys) c.1798G>A (p.Glu600Lys) | gnomAD v3 gnomAD v4 |
| 7 | g.117592208G>C | CA368979366 | CFTR | c.2041G>C (p.Glu681Gln) c.*1755G>C (n.*1755G>C) c.1858G>C (p.Glu620Gln) c.*341G>C (n.*341G>C) c.*1865G>C (n.*1865G>C) c.1615G>C (p.Glu539Gln) c.1402-10618G>C (n.1402-10618G>C) c.1951G>C (p.Glu651Gln) c.2131G>C (p.Glu711Gln) c.1798G>C (p.Glu600Gln) | COSMIC |
| 7 | g.117592208G= | CA1737394536 | CFTR | c.2041G= (p.Glu681=) c.*1755G= (n.*1755G=) c.1858G= (p.Glu620=) c.*341G= (n.*341G=) c.*1865G= (n.*1865G=) c.1615G= (p.Glu539=) c.1402-10618G= (n.1402-10618G=) c.1951G= (p.Glu651=) c.2131G= (p.Glu711=) c.1798G= (p.Glu600=) |