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.117592170G>A | CA4451125 | CFTR | c.2003G>A (p.Arg668His) c.*1717G>A (n.*1717G>A) c.1820G>A (p.Arg607His) c.*303G>A (n.*303G>A) c.*1827G>A (n.*1827G>A) c.1577G>A (p.Arg526His) c.1402-10656G>A (n.1402-10656G>A) c.1913G>A (p.Arg638His) c.2093G>A (p.Arg698His) c.1760G>A (p.Arg587His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592170G>C | CA368979177 | CFTR | c.2003G>C (p.Arg668Pro) c.*1717G>C (n.*1717G>C) c.1820G>C (p.Arg607Pro) c.*303G>C (n.*303G>C) c.*1827G>C (n.*1827G>C) c.1577G>C (p.Arg526Pro) c.1402-10656G>C (n.1402-10656G>C) c.1913G>C (p.Arg638Pro) c.2093G>C (p.Arg698Pro) c.1760G>C (p.Arg587Pro) | |
| 7 | g.117592170G= | CA1737394444 | CFTR | c.2003G= (p.Arg668=) c.*1717G= (n.*1717G=) c.1820G= (p.Arg607=) c.*303G= (n.*303G=) c.*1827G= (n.*1827G=) c.1577G= (p.Arg526=) c.1402-10656G= (n.1402-10656G=) c.1913G= (p.Arg638=) c.2093G= (p.Arg698=) c.1760G= (p.Arg587=) | |
| 7 | g.117592170G>T | CA164947672 | CFTR | c.2003G>T (p.Arg668Leu) c.*1717G>T (n.*1717G>T) c.1820G>T (p.Arg607Leu) c.*303G>T (n.*303G>T) c.*1827G>T (n.*1827G>T) c.1577G>T (p.Arg526Leu) c.1402-10656G>T (n.1402-10656G>T) c.1913G>T (p.Arg638Leu) c.2093G>T (p.Arg698Leu) c.1760G>T (p.Arg587Leu) | dbSNP gnomAD v4 |
| 7 | g.117592171T>A | CA457448954 | CFTR | c.2004T>A (p.Arg668=) c.*1718T>A (n.*1718T>A) c.1821T>A (p.Arg607=) c.*304T>A (n.*304T>A) c.*1828T>A (n.*1828T>A) c.1578T>A (p.Arg526=) c.1402-10655T>A (n.1402-10655T>A) c.1914T>A (p.Arg638=) c.2094T>A (p.Arg698=) c.1761T>A (p.Arg587=) | |
| 7 | g.117592171T>C | CA457448955 | CFTR | c.2004T>C (p.Arg668=) c.*1718T>C (n.*1718T>C) c.1821T>C (p.Arg607=) c.*304T>C (n.*304T>C) c.*1828T>C (n.*1828T>C) c.1578T>C (p.Arg526=) c.1402-10655T>C (n.1402-10655T>C) c.1914T>C (p.Arg638=) c.2094T>C (p.Arg698=) c.1761T>C (p.Arg587=) | dbSNP |
| 7 | g.117592171T>G | CA457448956 | CFTR | c.2004T>G (p.Arg668=) c.*1718T>G (n.*1718T>G) c.1821T>G (p.Arg607=) c.*304T>G (n.*304T>G) c.*1828T>G (n.*1828T>G) c.1578T>G (p.Arg526=) c.1402-10655T>G (n.1402-10655T>G) c.1914T>G (p.Arg638=) c.2094T>G (p.Arg698=) c.1761T>G (p.Arg587=) | |
| 7 | g.117592171T= | CA1737394450 | CFTR | c.2004T= (p.Arg668=) c.*1718T= (n.*1718T=) c.1821T= (p.Arg607=) c.*304T= (n.*304T=) c.*1828T= (n.*1828T=) c.1578T= (p.Arg526=) c.1402-10655T= (n.1402-10655T=) c.1914T= (p.Arg638=) c.2094T= (p.Arg698=) c.1761T= (p.Arg587=) | |
| 7 | g.117592172T>A | CA368979178 | CFTR | c.2005T>A (p.Phe669Ile) c.*1719T>A (n.*1719T>A) c.1822T>A (p.Phe608Ile) c.*305T>A (n.*305T>A) c.*1829T>A (n.*1829T>A) c.1579T>A (p.Phe527Ile) c.1402-10654T>A (n.1402-10654T>A) c.1915T>A (p.Phe639Ile) c.2095T>A (p.Phe699Ile) c.1762T>A (p.Phe588Ile) | |
| 7 | g.117592172T>C | CA368979179 | CFTR | c.2005T>C (p.Phe669Leu) c.*1719T>C (n.*1719T>C) c.1822T>C (p.Phe608Leu) c.*305T>C (n.*305T>C) c.*1829T>C (n.*1829T>C) c.1579T>C (p.Phe527Leu) c.1402-10654T>C (n.1402-10654T>C) c.1915T>C (p.Phe639Leu) c.2095T>C (p.Phe699Leu) c.1762T>C (p.Phe588Leu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592172T>G | CA368979180 | CFTR | c.2005T>G (p.Phe669Val) c.*1719T>G (n.*1719T>G) c.1822T>G (p.Phe608Val) c.*305T>G (n.*305T>G) c.*1829T>G (n.*1829T>G) c.1579T>G (p.Phe527Val) c.1402-10654T>G (n.1402-10654T>G) c.1915T>G (p.Phe639Val) c.2095T>G (p.Phe699Val) c.1762T>G (p.Phe588Val) | |
| 7 | g.117592173T>A | CA368979181 | CFTR | c.2006T>A (p.Phe669Tyr) c.*1720T>A (n.*1720T>A) c.1823T>A (p.Phe608Tyr) c.*306T>A (n.*306T>A) c.*1830T>A (n.*1830T>A) c.1580T>A (p.Phe527Tyr) c.1402-10653T>A (n.1402-10653T>A) c.1916T>A (p.Phe639Tyr) c.2096T>A (p.Phe699Tyr) c.1763T>A (p.Phe588Tyr) | |
| 7 | g.117592173T>C | CA368979183 | CFTR | c.2006T>C (p.Phe669Ser) c.*1720T>C (n.*1720T>C) c.1823T>C (p.Phe608Ser) c.*306T>C (n.*306T>C) c.*1830T>C (n.*1830T>C) c.1580T>C (p.Phe527Ser) c.1402-10653T>C (n.1402-10653T>C) c.1916T>C (p.Phe639Ser) c.2096T>C (p.Phe699Ser) c.1763T>C (p.Phe588Ser) | |
| 7 | g.117592173T>G | CA368979182 | CFTR | c.2006T>G (p.Phe669Cys) c.*1720T>G (n.*1720T>G) c.1823T>G (p.Phe608Cys) c.*306T>G (n.*306T>G) c.*1830T>G (n.*1830T>G) c.1580T>G (p.Phe527Cys) c.1402-10653T>G (n.1402-10653T>G) c.1916T>G (p.Phe639Cys) c.2096T>G (p.Phe699Cys) c.1763T>G (p.Phe588Cys) | |
| 7 | g.117592174C>A | CA368979190 | CFTR | c.2007C>A (p.Phe669Leu) c.*1721C>A (n.*1721C>A) c.1824C>A (p.Phe608Leu) c.*307C>A (n.*307C>A) c.*1831C>A (n.*1831C>A) c.1581C>A (p.Phe527Leu) c.1402-10652C>A (n.1402-10652C>A) c.1917C>A (p.Phe639Leu) c.2097C>A (p.Phe699Leu) c.1764C>A (p.Phe588Leu) | |
| 7 | g.117592174C= | CA1737394454 | CFTR | c.2007C= (p.Phe669=) c.*1721C= (n.*1721C=) c.1824C= (p.Phe608=) c.*307C= (n.*307C=) c.*1831C= (n.*1831C=) c.1581C= (p.Phe527=) c.1402-10652C= (n.1402-10652C=) c.1917C= (p.Phe639=) c.2097C= (p.Phe699=) c.1764C= (p.Phe588=) | |
| 7 | g.117592174C>G | CA368979192 | CFTR | c.2007C>G (p.Phe669Leu) c.*1721C>G (n.*1721C>G) c.1824C>G (p.Phe608Leu) c.*307C>G (n.*307C>G) c.*1831C>G (n.*1831C>G) c.1581C>G (p.Phe527Leu) c.1402-10652C>G (n.1402-10652C>G) c.1917C>G (p.Phe639Leu) c.2097C>G (p.Phe699Leu) c.1764C>G (p.Phe588Leu) | |
| 7 | g.117592174C>T | CA164947676 | CFTR | c.2007C>T (p.Phe669=) c.*1721C>T (n.*1721C>T) c.1824C>T (p.Phe608=) c.*307C>T (n.*307C>T) c.*1831C>T (n.*1831C>T) c.1581C>T (p.Phe527=) c.1402-10652C>T (n.1402-10652C>T) c.1917C>T (p.Phe639=) c.2097C>T (p.Phe699=) c.1764C>T (p.Phe588=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592175T>A | CA368979194 | CFTR | c.2008T>A (p.Ser670Thr) c.*1722T>A (n.*1722T>A) c.1825T>A (p.Ser609Thr) c.*308T>A (n.*308T>A) c.*1832T>A (n.*1832T>A) c.1582T>A (p.Ser528Thr) c.1402-10651T>A (n.1402-10651T>A) c.1918T>A (p.Ser640Thr) c.2098T>A (p.Ser700Thr) c.1765T>A (p.Ser589Thr) | |
| 7 | g.117592175T>C | CA368979196 | CFTR | c.2008T>C (p.Ser670Pro) c.*1722T>C (n.*1722T>C) c.1825T>C (p.Ser609Pro) c.*308T>C (n.*308T>C) c.*1832T>C (n.*1832T>C) c.1582T>C (p.Ser528Pro) c.1402-10651T>C (n.1402-10651T>C) c.1918T>C (p.Ser640Pro) c.2098T>C (p.Ser700Pro) c.1765T>C (p.Ser589Pro) | |
| 7 | g.117592175T>G | CA368979200 | CFTR | c.2008T>G (p.Ser670Ala) c.*1722T>G (n.*1722T>G) c.1825T>G (p.Ser609Ala) c.*308T>G (n.*308T>G) c.*1832T>G (n.*1832T>G) c.1582T>G (p.Ser528Ala) c.1402-10651T>G (n.1402-10651T>G) c.1918T>G (p.Ser640Ala) c.2098T>G (p.Ser700Ala) c.1765T>G (p.Ser589Ala) | COSMIC |
| 7 | g.117592176C>A | CA368979203 | CFTR | c.2009C>A (p.Ser670Ter) c.*1723C>A (n.*1723C>A) c.1826C>A (p.Ser609Ter) c.*309C>A (n.*309C>A) c.*1833C>A (n.*1833C>A) c.1583C>A (p.Ser528Ter) c.1402-10650C>A (n.1402-10650C>A) c.1919C>A (p.Ser640Ter) c.2099C>A (p.Ser700Ter) c.1766C>A (p.Ser589Ter) | |
| 7 | g.117592176C= | CA1737394457 | CFTR | c.2009C= (p.Ser670=) c.*1723C= (n.*1723C=) c.1826C= (p.Ser609=) c.*309C= (n.*309C=) c.*1833C= (n.*1833C=) c.1583C= (p.Ser528=) c.1402-10650C= (n.1402-10650C=) c.1919C= (p.Ser640=) c.2099C= (p.Ser700=) c.1766C= (p.Ser589=) | |
| 7 | g.117592176C>G | CA368979205 | CFTR | c.2009C>G (p.Ser670Ter) c.*1723C>G (n.*1723C>G) c.1826C>G (p.Ser609Ter) c.*309C>G (n.*309C>G) c.*1833C>G (n.*1833C>G) c.1583C>G (p.Ser528Ter) c.1402-10650C>G (n.1402-10650C>G) c.1919C>G (p.Ser640Ter) c.2099C>G (p.Ser700Ter) c.1766C>G (p.Ser589Ter) | |
| 7 | g.117592176C>T | CA368979208 | CFTR | c.2009C>T (p.Ser670Leu) c.*1723C>T (n.*1723C>T) c.1826C>T (p.Ser609Leu) c.*309C>T (n.*309C>T) c.*1833C>T (n.*1833C>T) c.1583C>T (p.Ser528Leu) c.1402-10650C>T (n.1402-10650C>T) c.1919C>T (p.Ser640Leu) c.2099C>T (p.Ser700Leu) c.1766C>T (p.Ser589Leu) | ClinVar |
| 7 | g.117592177A>C | CA457448995 | CFTR | c.2010A>C (p.Ser670=) c.*1724A>C (n.*1724A>C) c.1827A>C (p.Ser609=) c.*310A>C (n.*310A>C) c.*1834A>C (n.*1834A>C) c.1584A>C (p.Ser528=) c.1402-10649A>C (n.1402-10649A>C) c.1920A>C (p.Ser640=) c.2100A>C (p.Ser700=) c.1767A>C (p.Ser589=) | ClinVar |
| 7 | g.117592177A>G | CA457448994 | CFTR | c.2010A>G (p.Ser670=) c.*1724A>G (n.*1724A>G) c.1827A>G (p.Ser609=) c.*310A>G (n.*310A>G) c.*1834A>G (n.*1834A>G) c.1584A>G (p.Ser528=) c.1402-10649A>G (n.1402-10649A>G) c.1920A>G (p.Ser640=) c.2100A>G (p.Ser700=) c.1767A>G (p.Ser589=) | |
| 7 | g.117592177A>T | CA457448993 | CFTR | c.2010A>T (p.Ser670=) c.*1724A>T (n.*1724A>T) c.1827A>T (p.Ser609=) c.*310A>T (n.*310A>T) c.*1834A>T (n.*1834A>T) c.1584A>T (p.Ser528=) c.1402-10649A>T (n.1402-10649A>T) c.1920A>T (p.Ser640=) c.2100A>T (p.Ser700=) c.1767A>T (p.Ser589=) | |
| 7 | g.117592177dup | CA326727 | CFTR | c.2010dup (p.Leu671IlefsTer18) c.*1724dup (n.*1724dup) c.1827dup (p.Leu610IlefsTer18) c.*310dup (n.*310dup) c.*1834dup (n.*1834dup) c.1584dup (p.Leu529IlefsTer18) c.1402-10649dup (n.1402-10649dup) c.1920dup (p.Leu641IlefsTer18) c.2100dup (p.Leu701IlefsTer18) c.1767dup (p.Leu590IlefsTer18) | dbSNP |
| 7 | g.117592177_117592178delinsAT | CA1737394460 | CFTR | c.2010_2011delinsAT (p.Ser670=) c.*1724_*1725delinsAT (n.*1724_*1725delinsAT) c.1827_1828delinsAT (p.Ser609=) c.*310_*311delinsAT (n.*310_*311delinsAT) c.*1834_*1835delinsAT (n.*1834_*1835delinsAT) c.1584_1585delinsAT (p.Ser528=) c.1402-10649_1402-10648delinsAT (n.1402-10649_1402-10648delinsAT) c.1920_1921delinsAT (p.Ser640=) c.2100_2101delinsAT (p.Ser700=) c.1767_1768delinsAT (p.Ser589=) | |
| 7 | g.117592178T>A | CA368979209 | CFTR | c.2011T>A (p.Leu671Ile) c.*1725T>A (n.*1725T>A) c.1828T>A (p.Leu610Ile) c.*311T>A (n.*311T>A) c.*1835T>A (n.*1835T>A) c.1585T>A (p.Leu529Ile) c.1402-10648T>A (n.1402-10648T>A) c.1921T>A (p.Leu641Ile) c.2101T>A (p.Leu701Ile) c.1768T>A (p.Leu590Ile) | |
| 7 | g.117592178T>C | CA457448996 | CFTR | c.2011T>C (p.Leu671=) c.*1725T>C (n.*1725T>C) c.1828T>C (p.Leu610=) c.*311T>C (n.*311T>C) c.*1835T>C (n.*1835T>C) c.1585T>C (p.Leu529=) c.1402-10648T>C (n.1402-10648T>C) c.1921T>C (p.Leu641=) c.2101T>C (p.Leu701=) c.1768T>C (p.Leu590=) | |
| 7 | g.117592178T>G | CA368979211 | CFTR | c.2011T>G (p.Leu671Val) c.*1725T>G (n.*1725T>G) c.1828T>G (p.Leu610Val) c.*311T>G (n.*311T>G) c.*1835T>G (n.*1835T>G) c.1585T>G (p.Leu529Val) c.1402-10648T>G (n.1402-10648T>G) c.1921T>G (p.Leu641Val) c.2101T>G (p.Leu701Val) c.1768T>G (p.Leu590Val) | |
| 7 | g.117592179del | CA342837 | CFTR | c.2012del (p.Leu671Ter) c.*1726del (n.*1726del) c.1829del (p.Leu610Ter) c.*312del (n.*312del) c.*1836del (n.*1836del) c.1586del (p.Leu529Ter) c.1402-10647del (n.1402-10647del) c.1922del (p.Leu641Ter) c.2102del (p.Leu701Ter) c.1769del (p.Leu590Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592179T>A | CA368979220 | CFTR | c.2012T>A (p.Leu671Ter) c.*1726T>A (n.*1726T>A) c.1829T>A (p.Leu610Ter) c.*312T>A (n.*312T>A) c.*1836T>A (n.*1836T>A) c.1586T>A (p.Leu529Ter) c.1402-10647T>A (n.1402-10647T>A) c.1922T>A (p.Leu641Ter) c.2102T>A (p.Leu701Ter) c.1769T>A (p.Leu590Ter) | ClinVar dbSNP |
| 7 | g.117592179T>C | CA368979218 | CFTR | c.2012T>C (p.Leu671Ser) c.*1726T>C (n.*1726T>C) c.1829T>C (p.Leu610Ser) c.*312T>C (n.*312T>C) c.*1836T>C (n.*1836T>C) c.1586T>C (p.Leu529Ser) c.1402-10647T>C (n.1402-10647T>C) c.1922T>C (p.Leu641Ser) c.2102T>C (p.Leu701Ser) c.1769T>C (p.Leu590Ser) | COSMIC |
| 7 | g.117592179T>G | CA368979222 | CFTR | c.2012T>G (p.Leu671Ter) c.*1726T>G (n.*1726T>G) c.1829T>G (p.Leu610Ter) c.*312T>G (n.*312T>G) c.*1836T>G (n.*1836T>G) c.1586T>G (p.Leu529Ter) c.1402-10647T>G (n.1402-10647T>G) c.1922T>G (p.Leu641Ter) c.2102T>G (p.Leu701Ter) c.1769T>G (p.Leu590Ter) | |
| 7 | g.117592179_117592182delinsTAGA | CA1737394470 | CFTR | c.2012_2015delinsTAGA (p.Leu671=) c.*1726_*1729delinsTAGA (n.*1726_*1729delinsTAGA) c.1829_1832delinsTAGA (p.Leu610=) c.*312_*315delinsTAGA (n.*312_*315delinsTAGA) c.*1836_*1839delinsTAGA (n.*1836_*1839delinsTAGA) c.1586_1589delinsTAGA (p.Leu529=) c.1402-10647_1402-10644delinsTAGA (n.1402-10647_1402-10644delinsTAGA) c.1922_1925delinsTAGA (p.Leu641=) c.2102_2105delinsTAGA (p.Leu701=) c.1769_1772delinsTAGA (p.Leu590=) | |
| 7 | g.117592180A>C | CA368979228 | CFTR | c.2013A>C (p.Leu671Phe) c.*1727A>C (n.*1727A>C) c.1830A>C (p.Leu610Phe) c.*313A>C (n.*313A>C) c.*1837A>C (n.*1837A>C) c.1587A>C (p.Leu529Phe) c.1402-10646A>C (n.1402-10646A>C) c.1923A>C (p.Leu641Phe) c.2103A>C (p.Leu701Phe) c.1770A>C (p.Leu590Phe) | |
| 7 | g.117592180A>G | CA457448997 | CFTR | c.2013A>G (p.Leu671=) c.*1727A>G (n.*1727A>G) c.1830A>G (p.Leu610=) c.*313A>G (n.*313A>G) c.*1837A>G (n.*1837A>G) c.1587A>G (p.Leu529=) c.1402-10646A>G (n.1402-10646A>G) c.1923A>G (p.Leu641=) c.2103A>G (p.Leu701=) c.1770A>G (p.Leu590=) | gnomAD v4 |
| 7 | g.117592180A>T | CA368979226 | CFTR | c.2013A>T (p.Leu671Phe) c.*1727A>T (n.*1727A>T) c.1830A>T (p.Leu610Phe) c.*313A>T (n.*313A>T) c.*1837A>T (n.*1837A>T) c.1587A>T (p.Leu529Phe) c.1402-10646A>T (n.1402-10646A>T) c.1923A>T (p.Leu641Phe) c.2103A>T (p.Leu701Phe) c.1770A>T (p.Leu590Phe) | |
| 7 | g.117592182_117592184del | CA326728 | CFTR | c.2015_2017del (p.Glu672del) c.*1729_*1731del (n.*1729_*1731del) c.1832_1834del (p.Glu611del) c.*315_*317del (n.*315_*317del) c.*1839_*1841del (n.*1839_*1841del) c.1589_1591del (p.Glu530del) c.1402-10644_1402-10642del (n.1402-10644_1402-10642del) c.1925_1927del (p.Glu642del) c.2105_2107del (p.Glu702del) c.1772_1774del (p.Glu591del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592181G>A | CA4451126 | CFTR | c.2014G>A (p.Glu672Lys) c.*1728G>A (n.*1728G>A) c.1831G>A (p.Glu611Lys) c.*314G>A (n.*314G>A) c.*1838G>A (n.*1838G>A) c.1588G>A (p.Glu530Lys) c.1402-10645G>A (n.1402-10645G>A) c.1924G>A (p.Glu642Lys) c.2104G>A (p.Glu702Lys) c.1771G>A (p.Glu591Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592181G>C | CA368979232 | CFTR | c.2014G>C (p.Glu672Gln) c.*1728G>C (n.*1728G>C) c.1831G>C (p.Glu611Gln) c.*314G>C (n.*314G>C) c.*1838G>C (n.*1838G>C) c.1588G>C (p.Glu530Gln) c.1402-10645G>C (n.1402-10645G>C) c.1924G>C (p.Glu642Gln) c.2104G>C (p.Glu702Gln) c.1771G>C (p.Glu591Gln) | |
| 7 | g.117592181G= | CA1737394477 | CFTR | c.2014G= (p.Glu672=) c.*1728G= (n.*1728G=) c.1831G= (p.Glu611=) c.*314G= (n.*314G=) c.*1838G= (n.*1838G=) c.1588G= (p.Glu530=) c.1402-10645G= (n.1402-10645G=) c.1924G= (p.Glu642=) c.2104G= (p.Glu702=) c.1771G= (p.Glu591=) | |
| 7 | g.117592181G>T | CA368979234 | CFTR | c.2014G>T (p.Glu672Ter) c.*1728G>T (n.*1728G>T) c.1831G>T (p.Glu611Ter) c.*314G>T (n.*314G>T) c.*1838G>T (n.*1838G>T) c.1588G>T (p.Glu530Ter) c.1402-10645G>T (n.1402-10645G>T) c.1924G>T (p.Glu642Ter) c.2104G>T (p.Glu702Ter) c.1771G>T (p.Glu591Ter) | |
| 7 | g.117592182A>C | CA368979238 | CFTR | c.2015A>C (p.Glu672Ala) c.*1729A>C (n.*1729A>C) c.1832A>C (p.Glu611Ala) c.*315A>C (n.*315A>C) c.*1839A>C (n.*1839A>C) c.1589A>C (p.Glu530Ala) c.1402-10644A>C (n.1402-10644A>C) c.1925A>C (p.Glu642Ala) c.2105A>C (p.Glu702Ala) c.1772A>C (p.Glu591Ala) | gnomAD v4 |
| 7 | g.117592182A>G | CA368979240 | CFTR | c.2015A>G (p.Glu672Gly) c.*1729A>G (n.*1729A>G) c.1832A>G (p.Glu611Gly) c.*315A>G (n.*315A>G) c.*1839A>G (n.*1839A>G) c.1589A>G (p.Glu530Gly) c.1402-10644A>G (n.1402-10644A>G) c.1925A>G (p.Glu642Gly) c.2105A>G (p.Glu702Gly) c.1772A>G (p.Glu591Gly) | |
| 7 | g.117592182A>T | CA368979242 | CFTR | c.2015A>T (p.Glu672Val) c.*1729A>T (n.*1729A>T) c.1832A>T (p.Glu611Val) c.*315A>T (n.*315A>T) c.*1839A>T (n.*1839A>T) c.1589A>T (p.Glu530Val) c.1402-10644A>T (n.1402-10644A>T) c.1925A>T (p.Glu642Val) c.2105A>T (p.Glu702Val) c.1772A>T (p.Glu591Val) |