| 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.117592262A>C | CA368979673 | CFTR | c.2095A>C (p.Asn699His) c.*1809A>C (n.*1809A>C) c.1912A>C (p.Asn638His) c.*395A>C (n.*395A>C) c.*1919A>C (n.*1919A>C) c.1669A>C (p.Asn557His) c.1402-10564A>C (n.1402-10564A>C) c.2005A>C (p.Asn669His) c.2185A>C (p.Asn729His) c.1852A>C (p.Asn618His) | |
| 7 | g.117592262A>G | CA368979674 | CFTR | c.2095A>G (p.Asn699Asp) c.*1809A>G (n.*1809A>G) c.1912A>G (p.Asn638Asp) c.*395A>G (n.*395A>G) c.*1919A>G (n.*1919A>G) c.1669A>G (p.Asn557Asp) c.1402-10564A>G (n.1402-10564A>G) c.2005A>G (p.Asn669Asp) c.2185A>G (p.Asn729Asp) c.1852A>G (p.Asn618Asp) | |
| 7 | g.117592262A>T | CA368979677 | CFTR | c.2095A>T (p.Asn699Tyr) c.*1809A>T (n.*1809A>T) c.1912A>T (p.Asn638Tyr) c.*395A>T (n.*395A>T) c.*1919A>T (n.*1919A>T) c.1669A>T (p.Asn557Tyr) c.1402-10564A>T (n.1402-10564A>T) c.2005A>T (p.Asn669Tyr) c.2185A>T (p.Asn729Tyr) c.1852A>T (p.Asn618Tyr) | |
| 7 | g.117592263A>C | CA368979679 | CFTR | c.2096A>C (p.Asn699Thr) c.*1810A>C (n.*1810A>C) c.1913A>C (p.Asn638Thr) c.*396A>C (n.*396A>C) c.*1920A>C (n.*1920A>C) c.1670A>C (p.Asn557Thr) c.1402-10563A>C (n.1402-10563A>C) c.2006A>C (p.Asn669Thr) c.2186A>C (p.Asn729Thr) c.1853A>C (p.Asn618Thr) | |
| 7 | g.117592263A>G | CA368979682 | CFTR | c.2096A>G (p.Asn699Ser) c.*1810A>G (n.*1810A>G) c.1913A>G (p.Asn638Ser) c.*396A>G (n.*396A>G) c.*1920A>G (n.*1920A>G) c.1670A>G (p.Asn557Ser) c.1402-10563A>G (n.1402-10563A>G) c.2006A>G (p.Asn669Ser) c.2186A>G (p.Asn729Ser) c.1853A>G (p.Asn618Ser) | |
| 7 | g.117592263A>T | CA368979684 | CFTR | c.2096A>T (p.Asn699Ile) c.*1810A>T (n.*1810A>T) c.1913A>T (p.Asn638Ile) c.*396A>T (n.*396A>T) c.*1920A>T (n.*1920A>T) c.1670A>T (p.Asn557Ile) c.1402-10563A>T (n.1402-10563A>T) c.2006A>T (p.Asn669Ile) c.2186A>T (p.Asn729Ile) c.1853A>T (p.Asn618Ile) | ClinVar |
| 7 | g.117592264T>A | CA4451139 | CFTR | c.2097T>A (p.Asn699Lys) c.*1811T>A (n.*1811T>A) c.1914T>A (p.Asn638Lys) c.*397T>A (n.*397T>A) c.*1921T>A (n.*1921T>A) c.1671T>A (p.Asn557Lys) c.1402-10562T>A (n.1402-10562T>A) c.2007T>A (p.Asn669Lys) c.2187T>A (p.Asn729Lys) c.1854T>A (p.Asn618Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592264T>C | CA457449045 | CFTR | c.2097T>C (p.Asn699=) c.*1811T>C (n.*1811T>C) c.1914T>C (p.Asn638=) c.*397T>C (n.*397T>C) c.*1921T>C (n.*1921T>C) c.1671T>C (p.Asn557=) c.1402-10562T>C (n.1402-10562T>C) c.2007T>C (p.Asn669=) c.2187T>C (p.Asn729=) c.1854T>C (p.Asn618=) | |
| 7 | g.117592264T>G | CA368979688 | CFTR | c.2097T>G (p.Asn699Lys) c.*1811T>G (n.*1811T>G) c.1914T>G (p.Asn638Lys) c.*397T>G (n.*397T>G) c.*1921T>G (n.*1921T>G) c.1671T>G (p.Asn557Lys) c.1402-10562T>G (n.1402-10562T>G) c.2007T>G (p.Asn669Lys) c.2187T>G (p.Asn729Lys) c.1854T>G (p.Asn618Lys) | |
| 7 | g.117592264T= | CA1737394751 | CFTR | c.2097T= (p.Asn699=) c.*1811T= (n.*1811T=) c.1914T= (p.Asn638=) c.*397T= (n.*397T=) c.*1921T= (n.*1921T=) c.1671T= (p.Asn557=) c.1402-10562T= (n.1402-10562T=) c.2007T= (p.Asn669=) c.2187T= (p.Asn729=) c.1854T= (p.Asn618=) | |
| 7 | g.117592265T>A | CA368979691 | CFTR | c.2098T>A (p.Ser700Thr) c.*1812T>A (n.*1812T>A) c.1915T>A (p.Ser639Thr) c.*398T>A (n.*398T>A) c.*1922T>A (n.*1922T>A) c.1672T>A (p.Ser558Thr) c.1402-10561T>A (n.1402-10561T>A) c.2008T>A (p.Ser670Thr) c.2188T>A (p.Ser730Thr) c.1855T>A (p.Ser619Thr) | |
| 7 | g.117592265T>C | CA368979692 | CFTR | c.2098T>C (p.Ser700Pro) c.*1812T>C (n.*1812T>C) c.1915T>C (p.Ser639Pro) c.*398T>C (n.*398T>C) c.*1922T>C (n.*1922T>C) c.1672T>C (p.Ser558Pro) c.1402-10561T>C (n.1402-10561T>C) c.2008T>C (p.Ser670Pro) c.2188T>C (p.Ser730Pro) c.1855T>C (p.Ser619Pro) | ClinVar |
| 7 | g.117592265T>G | CA368979695 | CFTR | c.2098T>G (p.Ser700Ala) c.*1812T>G (n.*1812T>G) c.1915T>G (p.Ser639Ala) c.*398T>G (n.*398T>G) c.*1922T>G (n.*1922T>G) c.1672T>G (p.Ser558Ala) c.1402-10561T>G (n.1402-10561T>G) c.2008T>G (p.Ser670Ala) c.2188T>G (p.Ser730Ala) c.1855T>G (p.Ser619Ala) | |
| 7 | g.117592266C>A | CA368979700 | CFTR | c.2099C>A (p.Ser700Tyr) c.*1813C>A (n.*1813C>A) c.1916C>A (p.Ser639Tyr) c.*399C>A (n.*399C>A) c.*1923C>A (n.*1923C>A) c.1673C>A (p.Ser558Tyr) c.1402-10560C>A (n.1402-10560C>A) c.2009C>A (p.Ser670Tyr) c.2189C>A (p.Ser730Tyr) c.1856C>A (p.Ser619Tyr) | ClinVar |
| 7 | g.117592266C>G | CA368979702 | CFTR | c.2099C>G (p.Ser700Cys) c.*1813C>G (n.*1813C>G) c.1916C>G (p.Ser639Cys) c.*399C>G (n.*399C>G) c.*1923C>G (n.*1923C>G) c.1673C>G (p.Ser558Cys) c.1402-10560C>G (n.1402-10560C>G) c.2009C>G (p.Ser670Cys) c.2189C>G (p.Ser730Cys) c.1856C>G (p.Ser619Cys) | |
| 7 | g.117592266C>T | CA368979698 | CFTR | c.2099C>T (p.Ser700Phe) c.*1813C>T (n.*1813C>T) c.1916C>T (p.Ser639Phe) c.*399C>T (n.*399C>T) c.*1923C>T (n.*1923C>T) c.1673C>T (p.Ser558Phe) c.1402-10560C>T (n.1402-10560C>T) c.2009C>T (p.Ser670Phe) c.2189C>T (p.Ser730Phe) c.1856C>T (p.Ser619Phe) | |
| 7 | g.117592267T>A | CA457449047 | CFTR | c.2100T>A (p.Ser700=) c.*1814T>A (n.*1814T>A) c.1917T>A (p.Ser639=) c.*400T>A (n.*400T>A) c.*1924T>A (n.*1924T>A) c.1674T>A (p.Ser558=) c.1402-10559T>A (n.1402-10559T>A) c.2010T>A (p.Ser670=) c.2190T>A (p.Ser730=) c.1857T>A (p.Ser619=) | gnomAD v4 |
| 7 | g.117592267T>C | CA457449048 | CFTR | c.2100T>C (p.Ser700=) c.*1814T>C (n.*1814T>C) c.1917T>C (p.Ser639=) c.*400T>C (n.*400T>C) c.*1924T>C (n.*1924T>C) c.1674T>C (p.Ser558=) c.1402-10559T>C (n.1402-10559T>C) c.2010T>C (p.Ser670=) c.2190T>C (p.Ser730=) c.1857T>C (p.Ser619=) | |
| 7 | g.117592267T>G | CA457449046 | CFTR | c.2100T>G (p.Ser700=) c.*1814T>G (n.*1814T>G) c.1917T>G (p.Ser639=) c.*400T>G (n.*400T>G) c.*1924T>G (n.*1924T>G) c.1674T>G (p.Ser558=) c.1402-10559T>G (n.1402-10559T>G) c.2010T>G (p.Ser670=) c.2190T>G (p.Ser730=) c.1857T>G (p.Ser619=) | |
| 7 | g.117592268A>C | CA368979705 | CFTR | c.2101A>C (p.Ile701Leu) c.*1815A>C (n.*1815A>C) c.1918A>C (p.Ile640Leu) c.*401A>C (n.*401A>C) c.*1925A>C (n.*1925A>C) c.1675A>C (p.Ile559Leu) c.1402-10558A>C (n.1402-10558A>C) c.2011A>C (p.Ile671Leu) c.2191A>C (p.Ile731Leu) c.1858A>C (p.Ile620Leu) | |
| 7 | g.117592268A>G | CA368979707 | CFTR | c.2101A>G (p.Ile701Val) c.*1815A>G (n.*1815A>G) c.1918A>G (p.Ile640Val) c.*401A>G (n.*401A>G) c.*1925A>G (n.*1925A>G) c.1675A>G (p.Ile559Val) c.1402-10558A>G (n.1402-10558A>G) c.2011A>G (p.Ile671Val) c.2191A>G (p.Ile731Val) c.1858A>G (p.Ile620Val) | |
| 7 | g.117592268A>T | CA368979709 | CFTR | c.2101A>T (p.Ile701Phe) c.*1815A>T (n.*1815A>T) c.1918A>T (p.Ile640Phe) c.*401A>T (n.*401A>T) c.*1925A>T (n.*1925A>T) c.1675A>T (p.Ile559Phe) c.1402-10558A>T (n.1402-10558A>T) c.2011A>T (p.Ile671Phe) c.2191A>T (p.Ile731Phe) c.1858A>T (p.Ile620Phe) | |
| 7 | g.117592269T>A | CA368979713 | CFTR | c.2102T>A (p.Ile701Asn) c.*1816T>A (n.*1816T>A) c.1919T>A (p.Ile640Asn) c.*402T>A (n.*402T>A) c.*1926T>A (n.*1926T>A) c.1676T>A (p.Ile559Asn) c.1402-10557T>A (n.1402-10557T>A) c.2012T>A (p.Ile671Asn) c.2192T>A (p.Ile731Asn) c.1859T>A (p.Ile620Asn) | |
| 7 | g.117592269T>C | CA368979715 | CFTR | c.2102T>C (p.Ile701Thr) c.*1816T>C (n.*1816T>C) c.1919T>C (p.Ile640Thr) c.*402T>C (n.*402T>C) c.*1926T>C (n.*1926T>C) c.1676T>C (p.Ile559Thr) c.1402-10557T>C (n.1402-10557T>C) c.2012T>C (p.Ile671Thr) c.2192T>C (p.Ile731Thr) c.1859T>C (p.Ile620Thr) | gnomAD v4 |
| 7 | g.117592269T>G | CA368979717 | CFTR | c.2102T>G (p.Ile701Ser) c.*1816T>G (n.*1816T>G) c.1919T>G (p.Ile640Ser) c.*402T>G (n.*402T>G) c.*1926T>G (n.*1926T>G) c.1676T>G (p.Ile559Ser) c.1402-10557T>G (n.1402-10557T>G) c.2012T>G (p.Ile671Ser) c.2192T>G (p.Ile731Ser) c.1859T>G (p.Ile620Ser) | |
| 7 | g.117592270T>A | CA457449049 | CFTR | c.2103T>A (p.Ile701=) c.*1817T>A (n.*1817T>A) c.1920T>A (p.Ile640=) c.*403T>A (n.*403T>A) c.*1927T>A (n.*1927T>A) c.1677T>A (p.Ile559=) c.1402-10556T>A (n.1402-10556T>A) c.2013T>A (p.Ile671=) c.2193T>A (p.Ile731=) c.1860T>A (p.Ile620=) | |
| 7 | g.117592270T>C | CA457449050 | CFTR | c.2103T>C (p.Ile701=) c.*1817T>C (n.*1817T>C) c.1920T>C (p.Ile640=) c.*403T>C (n.*403T>C) c.*1927T>C (n.*1927T>C) c.1677T>C (p.Ile559=) c.1402-10556T>C (n.1402-10556T>C) c.2013T>C (p.Ile671=) c.2193T>C (p.Ile731=) c.1860T>C (p.Ile620=) | |
| 7 | g.117592270T>G | CA368979719 | CFTR | c.2103T>G (p.Ile701Met) c.*1817T>G (n.*1817T>G) c.1920T>G (p.Ile640Met) c.*403T>G (n.*403T>G) c.*1927T>G (n.*1927T>G) c.1677T>G (p.Ile559Met) c.1402-10556T>G (n.1402-10556T>G) c.2013T>G (p.Ile671Met) c.2193T>G (p.Ile731Met) c.1860T>G (p.Ile620Met) | |
| 7 | g.117592271C>A | CA368979722 | CFTR | c.2104C>A (p.Leu702Ile) c.*1818C>A (n.*1818C>A) c.1921C>A (p.Leu641Ile) c.*404C>A (n.*404C>A) c.*1928C>A (n.*1928C>A) c.1678C>A (p.Leu560Ile) c.1402-10555C>A (n.1402-10555C>A) c.2014C>A (p.Leu672Ile) c.2194C>A (p.Leu732Ile) c.1861C>A (p.Leu621Ile) | |
| 7 | g.117592271C>G | CA368979726 | CFTR | c.2104C>G (p.Leu702Val) c.*1818C>G (n.*1818C>G) c.1921C>G (p.Leu641Val) c.*404C>G (n.*404C>G) c.*1928C>G (n.*1928C>G) c.1678C>G (p.Leu560Val) c.1402-10555C>G (n.1402-10555C>G) c.2014C>G (p.Leu672Val) c.2194C>G (p.Leu732Val) c.1861C>G (p.Leu621Val) | gnomAD v4 |
| 7 | g.117592271C>T | CA368979724 | CFTR | c.2104C>T (p.Leu702Phe) c.*1818C>T (n.*1818C>T) c.1921C>T (p.Leu641Phe) c.*404C>T (n.*404C>T) c.*1928C>T (n.*1928C>T) c.1678C>T (p.Leu560Phe) c.1402-10555C>T (n.1402-10555C>T) c.2014C>T (p.Leu672Phe) c.2194C>T (p.Leu732Phe) c.1861C>T (p.Leu621Phe) | |
| 7 | g.117592272T>A | CA368979729 | CFTR | c.2105T>A (p.Leu702His) c.*1819T>A (n.*1819T>A) c.1922T>A (p.Leu641His) c.*405T>A (n.*405T>A) c.*1929T>A (n.*1929T>A) c.1679T>A (p.Leu560His) c.1402-10554T>A (n.1402-10554T>A) c.2015T>A (p.Leu672His) c.2195T>A (p.Leu732His) c.1862T>A (p.Leu621His) | |
| 7 | g.117592272T>C | CA368979731 | CFTR | c.2105T>C (p.Leu702Pro) c.*1819T>C (n.*1819T>C) c.1922T>C (p.Leu641Pro) c.*405T>C (n.*405T>C) c.*1929T>C (n.*1929T>C) c.1679T>C (p.Leu560Pro) c.1402-10554T>C (n.1402-10554T>C) c.2015T>C (p.Leu672Pro) c.2195T>C (p.Leu732Pro) c.1862T>C (p.Leu621Pro) | |
| 7 | g.117592272T>G | CA368979733 | CFTR | c.2105T>G (p.Leu702Arg) c.*1819T>G (n.*1819T>G) c.1922T>G (p.Leu641Arg) c.*405T>G (n.*405T>G) c.*1929T>G (n.*1929T>G) c.1679T>G (p.Leu560Arg) c.1402-10554T>G (n.1402-10554T>G) c.2015T>G (p.Leu672Arg) c.2195T>G (p.Leu732Arg) c.1862T>G (p.Leu621Arg) | |
| 7 | g.117592273C>A | CA457449051 | CFTR | c.2106C>A (p.Leu702=) c.*1820C>A (n.*1820C>A) c.1923C>A (p.Leu641=) c.*406C>A (n.*406C>A) c.*1930C>A (n.*1930C>A) c.1680C>A (p.Leu560=) c.1402-10553C>A (n.1402-10553C>A) c.2016C>A (p.Leu672=) c.2196C>A (p.Leu732=) c.1863C>A (p.Leu621=) | |
| 7 | g.117592273C= | CA1737394755 | CFTR | c.2106C= (p.Leu702=) c.*1820C= (n.*1820C=) c.1923C= (p.Leu641=) c.*406C= (n.*406C=) c.*1930C= (n.*1930C=) c.1680C= (p.Leu560=) c.1402-10553C= (n.1402-10553C=) c.2016C= (p.Leu672=) c.2196C= (p.Leu732=) c.1863C= (p.Leu621=) | |
| 7 | g.117592273C>G | CA164947832 | CFTR | c.2106C>G (p.Leu702=) c.*1820C>G (n.*1820C>G) c.1923C>G (p.Leu641=) c.*406C>G (n.*406C>G) c.*1930C>G (n.*1930C>G) c.1680C>G (p.Leu560=) c.1402-10553C>G (n.1402-10553C>G) c.2016C>G (p.Leu672=) c.2196C>G (p.Leu732=) c.1863C>G (p.Leu621=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592273C>T | CA457449052 | CFTR | c.2106C>T (p.Leu702=) c.*1820C>T (n.*1820C>T) c.1923C>T (p.Leu641=) c.*406C>T (n.*406C>T) c.*1930C>T (n.*1930C>T) c.1680C>T (p.Leu560=) c.1402-10553C>T (n.1402-10553C>T) c.2016C>T (p.Leu672=) c.2196C>T (p.Leu732=) c.1863C>T (p.Leu621=) | ClinVar dbSNP |
| 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=) |