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.117592189T>A | CA368979282 | CFTR | c.2022T>A (p.Asp674Glu) c.*1736T>A (n.*1736T>A) c.1839T>A (p.Asp613Glu) c.*322T>A (n.*322T>A) c.*1846T>A (n.*1846T>A) c.1596T>A (p.Asp532Glu) c.1402-10637T>A (n.1402-10637T>A) c.1932T>A (p.Asp644Glu) c.2112T>A (p.Asp704Glu) c.1779T>A (p.Asp593Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592189T>C | CA457449002 | CFTR | c.2022T>C (p.Asp674=) c.*1736T>C (n.*1736T>C) c.1839T>C (p.Asp613=) c.*322T>C (n.*322T>C) c.*1846T>C (n.*1846T>C) c.1596T>C (p.Asp532=) c.1402-10637T>C (n.1402-10637T>C) c.1932T>C (p.Asp644=) c.2112T>C (p.Asp704=) c.1779T>C (p.Asp593=) | ClinVar dbSNP |
| 7 | g.117592189T>G | CA368979283 | CFTR | c.2022T>G (p.Asp674Glu) c.*1736T>G (n.*1736T>G) c.1839T>G (p.Asp613Glu) c.*322T>G (n.*322T>G) c.*1846T>G (n.*1846T>G) c.1596T>G (p.Asp532Glu) c.1402-10637T>G (n.1402-10637T>G) c.1932T>G (p.Asp644Glu) c.2112T>G (p.Asp704Glu) c.1779T>G (p.Asp593Glu) | |
| 7 | g.117592189T= | CA1737394499 | CFTR | c.2022T= (p.Asp674=) c.*1736T= (n.*1736T=) c.1839T= (p.Asp613=) c.*322T= (n.*322T=) c.*1846T= (n.*1846T=) c.1596T= (p.Asp532=) c.1402-10637T= (n.1402-10637T=) c.1932T= (p.Asp644=) c.2112T= (p.Asp704=) c.1779T= (p.Asp593=) | |
| 7 | g.117592190G>A | CA368979285 | CFTR | c.2023G>A (p.Ala675Thr) c.*1737G>A (n.*1737G>A) c.1840G>A (p.Ala614Thr) c.*323G>A (n.*323G>A) c.*1847G>A (n.*1847G>A) c.1597G>A (p.Ala533Thr) c.1402-10636G>A (n.1402-10636G>A) c.1933G>A (p.Ala645Thr) c.2113G>A (p.Ala705Thr) c.1780G>A (p.Ala594Thr) | |
| 7 | g.117592190G>C | CA368979287 | CFTR | c.2023G>C (p.Ala675Pro) c.*1737G>C (n.*1737G>C) c.1840G>C (p.Ala614Pro) c.*323G>C (n.*323G>C) c.*1847G>C (n.*1847G>C) c.1597G>C (p.Ala533Pro) c.1402-10636G>C (n.1402-10636G>C) c.1933G>C (p.Ala645Pro) c.2113G>C (p.Ala705Pro) c.1780G>C (p.Ala594Pro) | |
| 7 | g.117592190G>T | CA368979289 | CFTR | c.2023G>T (p.Ala675Ser) c.*1737G>T (n.*1737G>T) c.1840G>T (p.Ala614Ser) c.*323G>T (n.*323G>T) c.*1847G>T (n.*1847G>T) c.1597G>T (p.Ala533Ser) c.1402-10636G>T (n.1402-10636G>T) c.1933G>T (p.Ala645Ser) c.2113G>T (p.Ala705Ser) c.1780G>T (p.Ala594Ser) | |
| 7 | g.117592191C>A | CA368979292 | CFTR | c.2024C>A (p.Ala675Asp) c.*1738C>A (n.*1738C>A) c.1841C>A (p.Ala614Asp) c.*324C>A (n.*324C>A) c.*1848C>A (n.*1848C>A) c.1598C>A (p.Ala533Asp) c.1402-10635C>A (n.1402-10635C>A) c.1934C>A (p.Ala645Asp) c.2114C>A (p.Ala705Asp) c.1781C>A (p.Ala594Asp) | |
| 7 | g.117592191C= | CA1737394506 | CFTR | c.2024C= (p.Ala675=) c.*1738C= (n.*1738C=) c.1841C= (p.Ala614=) c.*324C= (n.*324C=) c.*1848C= (n.*1848C=) c.1598C= (p.Ala533=) c.1402-10635C= (n.1402-10635C=) c.1934C= (p.Ala645=) c.2114C= (p.Ala705=) c.1781C= (p.Ala594=) | |
| 7 | g.117592191C>G | CA368979293 | CFTR | c.2024C>G (p.Ala675Gly) c.*1738C>G (n.*1738C>G) c.1841C>G (p.Ala614Gly) c.*324C>G (n.*324C>G) c.*1848C>G (n.*1848C>G) c.1598C>G (p.Ala533Gly) c.1402-10635C>G (n.1402-10635C>G) c.1934C>G (p.Ala645Gly) c.2114C>G (p.Ala705Gly) c.1781C>G (p.Ala594Gly) | |
| 7 | g.117592191C>T | CA368979291 | CFTR | c.2024C>T (p.Ala675Val) c.*1738C>T (n.*1738C>T) c.1841C>T (p.Ala614Val) c.*324C>T (n.*324C>T) c.*1848C>T (n.*1848C>T) c.1598C>T (p.Ala533Val) c.1402-10635C>T (n.1402-10635C>T) c.1934C>T (p.Ala645Val) c.2114C>T (p.Ala705Val) c.1781C>T (p.Ala594Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117592192T>A | CA457449003 | CFTR | c.2025T>A (p.Ala675=) c.*1739T>A (n.*1739T>A) c.1842T>A (p.Ala614=) c.*325T>A (n.*325T>A) c.*1849T>A (n.*1849T>A) c.1599T>A (p.Ala533=) c.1402-10634T>A (n.1402-10634T>A) c.1935T>A (p.Ala645=) c.2115T>A (p.Ala705=) c.1782T>A (p.Ala594=) | |
| 7 | g.117592192T>C | CA457449004 | CFTR | c.2025T>C (p.Ala675=) c.*1739T>C (n.*1739T>C) c.1842T>C (p.Ala614=) c.*325T>C (n.*325T>C) c.*1849T>C (n.*1849T>C) c.1599T>C (p.Ala533=) c.1402-10634T>C (n.1402-10634T>C) c.1935T>C (p.Ala645=) c.2115T>C (p.Ala705=) c.1782T>C (p.Ala594=) | |
| 7 | g.117592192T>G | CA457449005 | CFTR | c.2025T>G (p.Ala675=) c.*1739T>G (n.*1739T>G) c.1842T>G (p.Ala614=) c.*325T>G (n.*325T>G) c.*1849T>G (n.*1849T>G) c.1599T>G (p.Ala533=) c.1402-10634T>G (n.1402-10634T>G) c.1935T>G (p.Ala645=) c.2115T>G (p.Ala705=) c.1782T>G (p.Ala594=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117592192T= | CA1737394508 | CFTR | c.2025T= (p.Ala675=) c.*1739T= (n.*1739T=) c.1842T= (p.Ala614=) c.*325T= (n.*325T=) c.*1849T= (n.*1849T=) c.1599T= (p.Ala533=) c.1402-10634T= (n.1402-10634T=) c.1935T= (p.Ala645=) c.2115T= (p.Ala705=) c.1782T= (p.Ala594=) | |
| 7 | g.117592193C>A | CA368979295 | CFTR | c.2026C>A (p.Pro676Thr) c.*1740C>A (n.*1740C>A) c.1843C>A (p.Pro615Thr) c.*326C>A (n.*326C>A) c.*1850C>A (n.*1850C>A) c.1600C>A (p.Pro534Thr) c.1402-10633C>A (n.1402-10633C>A) c.1936C>A (p.Pro646Thr) c.2116C>A (p.Pro706Thr) c.1783C>A (p.Pro595Thr) | gnomAD v4 |
| 7 | g.117592193C= | CA1737394515 | CFTR | c.2026C= (p.Pro676=) c.*1740C= (n.*1740C=) c.1843C= (p.Pro615=) c.*326C= (n.*326C=) c.*1850C= (n.*1850C=) c.1600C= (p.Pro534=) c.1402-10633C= (n.1402-10633C=) c.1936C= (p.Pro646=) c.2116C= (p.Pro706=) c.1783C= (p.Pro595=) | |
| 7 | g.117592193C>G | CA4451129 | CFTR | c.2026C>G (p.Pro676Ala) c.*1740C>G (n.*1740C>G) c.1843C>G (p.Pro615Ala) c.*326C>G (n.*326C>G) c.*1850C>G (n.*1850C>G) c.1600C>G (p.Pro534Ala) c.1402-10633C>G (n.1402-10633C>G) c.1936C>G (p.Pro646Ala) c.2116C>G (p.Pro706Ala) c.1783C>G (p.Pro595Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592193C>T | CA4451130 | CFTR | c.2026C>T (p.Pro676Ser) c.*1740C>T (n.*1740C>T) c.1843C>T (p.Pro615Ser) c.*326C>T (n.*326C>T) c.*1850C>T (n.*1850C>T) c.1600C>T (p.Pro534Ser) c.1402-10633C>T (n.1402-10633C>T) c.1936C>T (p.Pro646Ser) c.2116C>T (p.Pro706Ser) c.1783C>T (p.Pro595Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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 |