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.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=) | |
| 7 | g.117592277C>A | CA368979760 | CFTR | c.2110C>A (p.Pro704Thr) c.*1824C>A (n.*1824C>A) c.1927C>A (p.Pro643Thr) c.*410C>A (n.*410C>A) c.*1934C>A (n.*1934C>A) c.1684C>A (p.Pro562Thr) c.1402-10549C>A (n.1402-10549C>A) c.2020C>A (p.Pro674Thr) c.2200C>A (p.Pro734Thr) c.1867C>A (p.Pro623Thr) | dbSNP gnomAD v4 |
| 7 | g.117592277C= | CA1737394766 | CFTR | c.2110C= (p.Pro704=) c.*1824C= (n.*1824C=) c.1927C= (p.Pro643=) c.*410C= (n.*410C=) c.*1934C= (n.*1934C=) c.1684C= (p.Pro562=) c.1402-10549C= (n.1402-10549C=) c.2020C= (p.Pro674=) c.2200C= (p.Pro734=) c.1867C= (p.Pro623=) | |
| 7 | g.117592277C>G | CA368979769 | CFTR | c.2110C>G (p.Pro704Ala) c.*1824C>G (n.*1824C>G) c.1927C>G (p.Pro643Ala) c.*410C>G (n.*410C>G) c.*1934C>G (n.*1934C>G) c.1684C>G (p.Pro562Ala) c.1402-10549C>G (n.1402-10549C>G) c.2020C>G (p.Pro674Ala) c.2200C>G (p.Pro734Ala) c.1867C>G (p.Pro623Ala) | |
| 7 | g.117592277C>T | CA368979774 | CFTR | c.2110C>T (p.Pro704Ser) c.*1824C>T (n.*1824C>T) c.1927C>T (p.Pro643Ser) c.*410C>T (n.*410C>T) c.*1934C>T (n.*1934C>T) c.1684C>T (p.Pro562Ser) c.1402-10549C>T (n.1402-10549C>T) c.2020C>T (p.Pro674Ser) c.2200C>T (p.Pro734Ser) c.1867C>T (p.Pro623Ser) | |
| 7 | g.117592278C>A | CA368979782 | CFTR | c.2111C>A (p.Pro704Gln) c.*1825C>A (n.*1825C>A) c.1928C>A (p.Pro643Gln) c.*411C>A (n.*411C>A) c.*1935C>A (n.*1935C>A) c.1685C>A (p.Pro562Gln) c.1402-10548C>A (n.1402-10548C>A) c.2021C>A (p.Pro674Gln) c.2201C>A (p.Pro734Gln) c.1868C>A (p.Pro623Gln) | |
| 7 | g.117592278C= | CA1737394772 | CFTR | c.2111C= (p.Pro704=) c.*1825C= (n.*1825C=) c.1928C= (p.Pro643=) c.*411C= (n.*411C=) c.*1935C= (n.*1935C=) c.1685C= (p.Pro562=) c.1402-10548C= (n.1402-10548C=) c.2021C= (p.Pro674=) c.2201C= (p.Pro734=) c.1868C= (p.Pro623=) | |
| 7 | g.117592278C>G | CA368979792 | CFTR | c.2111C>G (p.Pro704Arg) c.*1825C>G (n.*1825C>G) c.1928C>G (p.Pro643Arg) c.*411C>G (n.*411C>G) c.*1935C>G (n.*1935C>G) c.1685C>G (p.Pro562Arg) c.1402-10548C>G (n.1402-10548C>G) c.2021C>G (p.Pro674Arg) c.2201C>G (p.Pro734Arg) c.1868C>G (p.Pro623Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592278C>T | CA4451142 | CFTR | c.2111C>T (p.Pro704Leu) c.*1825C>T (n.*1825C>T) c.1928C>T (p.Pro643Leu) c.*411C>T (n.*411C>T) c.*1935C>T (n.*1935C>T) c.1685C>T (p.Pro562Leu) c.1402-10548C>T (n.1402-10548C>T) c.2021C>T (p.Pro674Leu) c.2201C>T (p.Pro734Leu) c.1868C>T (p.Pro623Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592279A= | CA1737394777 | CFTR | c.2112A= (p.Pro704=) c.*1826A= (n.*1826A=) c.1929A= (p.Pro643=) c.*412A= (n.*412A=) c.*1936A= (n.*1936A=) c.1686A= (p.Pro562=) c.1402-10547A= (n.1402-10547A=) c.2022A= (p.Pro674=) c.2202A= (p.Pro734=) c.1869A= (p.Pro623=) | |
| 7 | g.117592279A>C | CA457449053 | CFTR | c.2112A>C (p.Pro704=) c.*1826A>C (n.*1826A>C) c.1929A>C (p.Pro643=) c.*412A>C (n.*412A>C) c.*1936A>C (n.*1936A>C) c.1686A>C (p.Pro562=) c.1402-10547A>C (n.1402-10547A>C) c.2022A>C (p.Pro674=) c.2202A>C (p.Pro734=) c.1869A>C (p.Pro623=) | |
| 7 | g.117592279A>G | CA164947848 | CFTR | c.2112A>G (p.Pro704=) c.*1826A>G (n.*1826A>G) c.1929A>G (p.Pro643=) c.*412A>G (n.*412A>G) c.*1936A>G (n.*1936A>G) c.1686A>G (p.Pro562=) c.1402-10547A>G (n.1402-10547A>G) c.2022A>G (p.Pro674=) c.2202A>G (p.Pro734=) c.1869A>G (p.Pro623=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117592279A>T | CA457449054 | CFTR | c.2112A>T (p.Pro704=) c.*1826A>T (n.*1826A>T) c.1929A>T (p.Pro643=) c.*412A>T (n.*412A>T) c.*1936A>T (n.*1936A>T) c.1686A>T (p.Pro562=) c.1402-10547A>T (n.1402-10547A>T) c.2022A>T (p.Pro674=) c.2202A>T (p.Pro734=) c.1869A>T (p.Pro623=) | |
| 7 | g.117592280A= | CA1737394779 | CFTR | c.2113A= (p.Ile705=) c.*1827A= (n.*1827A=) c.1930A= (p.Ile644=) c.*413A= (n.*413A=) c.*1937A= (n.*1937A=) c.1687A= (p.Ile563=) c.1402-10546A= (n.1402-10546A=) c.2023A= (p.Ile675=) c.2203A= (p.Ile735=) c.1870A= (p.Ile624=) | |
| 7 | g.117592280A>C | CA368979794 | CFTR | c.2113A>C (p.Ile705Leu) c.*1827A>C (n.*1827A>C) c.1930A>C (p.Ile644Leu) c.*413A>C (n.*413A>C) c.*1937A>C (n.*1937A>C) c.1687A>C (p.Ile563Leu) c.1402-10546A>C (n.1402-10546A>C) c.2023A>C (p.Ile675Leu) c.2203A>C (p.Ile735Leu) c.1870A>C (p.Ile624Leu) | |
| 7 | g.117592280A>G | CA4451143 | CFTR | c.2113A>G (p.Ile705Val) c.*1827A>G (n.*1827A>G) c.1930A>G (p.Ile644Val) c.*413A>G (n.*413A>G) c.*1937A>G (n.*1937A>G) c.1687A>G (p.Ile563Val) c.1402-10546A>G (n.1402-10546A>G) c.2023A>G (p.Ile675Val) c.2203A>G (p.Ile735Val) c.1870A>G (p.Ile624Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592280A>T | CA368979795 | CFTR | c.2113A>T (p.Ile705Phe) c.*1827A>T (n.*1827A>T) c.1930A>T (p.Ile644Phe) c.*413A>T (n.*413A>T) c.*1937A>T (n.*1937A>T) c.1687A>T (p.Ile563Phe) c.1402-10546A>T (n.1402-10546A>T) c.2023A>T (p.Ile675Phe) c.2203A>T (p.Ile735Phe) c.1870A>T (p.Ile624Phe) | |
| 7 | g.117592281T>A | CA368979797 | CFTR | c.2114T>A (p.Ile705Asn) c.*1828T>A (n.*1828T>A) c.1931T>A (p.Ile644Asn) c.*414T>A (n.*414T>A) c.*1938T>A (n.*1938T>A) c.1688T>A (p.Ile563Asn) c.1402-10545T>A (n.1402-10545T>A) c.2024T>A (p.Ile675Asn) c.2204T>A (p.Ile735Asn) c.1871T>A (p.Ile624Asn) | |
| 7 | g.117592281T>C | CA368979802 | CFTR | c.2114T>C (p.Ile705Thr) c.*1828T>C (n.*1828T>C) c.1931T>C (p.Ile644Thr) c.*414T>C (n.*414T>C) c.*1938T>C (n.*1938T>C) c.1688T>C (p.Ile563Thr) c.1402-10545T>C (n.1402-10545T>C) c.2024T>C (p.Ile675Thr) c.2204T>C (p.Ile735Thr) c.1871T>C (p.Ile624Thr) | |
| 7 | g.117592281T>G | CA368979800 | CFTR | c.2114T>G (p.Ile705Ser) c.*1828T>G (n.*1828T>G) c.1931T>G (p.Ile644Ser) c.*414T>G (n.*414T>G) c.*1938T>G (n.*1938T>G) c.1688T>G (p.Ile563Ser) c.1402-10545T>G (n.1402-10545T>G) c.2024T>G (p.Ile675Ser) c.2204T>G (p.Ile735Ser) c.1871T>G (p.Ile624Ser) |