WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.117592357del | CA2695208512 | CFTR | c.2190del (p.Glu730AspfsTer3) c.*1904del (n.*1904del) c.2007del (p.Glu669AspfsTer3) c.*490del (n.*490del) c.*2014del (n.*2014del) c.1764del (p.Glu588AspfsTer3) c.1402-10469del (n.1402-10469del) c.2100del (p.Glu700AspfsTer3) c.2280del (p.Glu760AspfsTer3) c.1947del (p.Glu649AspfsTer3) | |
| 7 | g.117592357G>A | CA457449409 | CFTR | c.2190G>A (p.Glu730=) c.*1904G>A (n.*1904G>A) c.2007G>A (p.Glu669=) c.*490G>A (n.*490G>A) c.*2014G>A (n.*2014G>A) c.1764G>A (p.Glu588=) c.1402-10469G>A (n.1402-10469G>A) c.2100G>A (p.Glu700=) c.2280G>A (p.Glu760=) c.1947G>A (p.Glu649=) | ClinVar |
| 7 | g.117592357G>C | CA368980337 | CFTR | c.2190G>C (p.Glu730Asp) c.*1904G>C (n.*1904G>C) c.2007G>C (p.Glu669Asp) c.*490G>C (n.*490G>C) c.*2014G>C (n.*2014G>C) c.1764G>C (p.Glu588Asp) c.1402-10469G>C (n.1402-10469G>C) c.2100G>C (p.Glu700Asp) c.2280G>C (p.Glu760Asp) c.1947G>C (p.Glu649Asp) | |
| 7 | g.117592357G>T | CA368980338 | CFTR | c.2190G>T (p.Glu730Asp) c.*1904G>T (n.*1904G>T) c.2007G>T (p.Glu669Asp) c.*490G>T (n.*490G>T) c.*2014G>T (n.*2014G>T) c.1764G>T (p.Glu588Asp) c.1402-10469G>T (n.1402-10469G>T) c.2100G>T (p.Glu700Asp) c.2280G>T (p.Glu760Asp) c.1947G>T (p.Glu649Asp) | |
| 7 | g.117592358C>A | CA368980339 | CFTR | c.2191C>A (p.Pro731Thr) c.*1905C>A (n.*1905C>A) c.2008C>A (p.Pro670Thr) c.*491C>A (n.*491C>A) c.*2015C>A (n.*2015C>A) c.1765C>A (p.Pro589Thr) c.1402-10468C>A (n.1402-10468C>A) c.2101C>A (p.Pro701Thr) c.2281C>A (p.Pro761Thr) c.1948C>A (p.Pro650Thr) | |
| 7 | g.117592358C= | CA1737394983 | CFTR | c.2191C= (p.Pro731=) c.*1905C= (n.*1905C=) c.2008C= (p.Pro670=) c.*491C= (n.*491C=) c.*2015C= (n.*2015C=) c.1765C= (p.Pro589=) c.1402-10468C= (n.1402-10468C=) c.2101C= (p.Pro701=) c.2281C= (p.Pro761=) c.1948C= (p.Pro650=) | |
| 7 | g.117592358C>G | CA368980340 | CFTR | c.2191C>G (p.Pro731Ala) c.*1905C>G (n.*1905C>G) c.2008C>G (p.Pro670Ala) c.*491C>G (n.*491C>G) c.*2015C>G (n.*2015C>G) c.1765C>G (p.Pro589Ala) c.1402-10468C>G (n.1402-10468C>G) c.2101C>G (p.Pro701Ala) c.2281C>G (p.Pro761Ala) c.1948C>G (p.Pro650Ala) | |
| 7 | g.117592358C>T | CA368980341 | CFTR | c.2191C>T (p.Pro731Ser) c.*1905C>T (n.*1905C>T) c.2008C>T (p.Pro670Ser) c.*491C>T (n.*491C>T) c.*2015C>T (n.*2015C>T) c.1765C>T (p.Pro589Ser) c.1402-10468C>T (n.1402-10468C>T) c.2101C>T (p.Pro701Ser) c.2281C>T (p.Pro761Ser) c.1948C>T (p.Pro650Ser) | ClinVar dbSNP |
| 7 | g.117592359C>A | CA368980343 | CFTR | c.2192C>A (p.Pro731His) c.*1906C>A (n.*1906C>A) c.2009C>A (p.Pro670His) c.*492C>A (n.*492C>A) c.*2016C>A (n.*2016C>A) c.1766C>A (p.Pro589His) c.1402-10467C>A (n.1402-10467C>A) c.2102C>A (p.Pro701His) c.2282C>A (p.Pro761His) c.1949C>A (p.Pro650His) | |
| 7 | g.117592359C= | CA1737394988 | CFTR | c.2192C= (p.Pro731=) c.*1906C= (n.*1906C=) c.2009C= (p.Pro670=) c.*492C= (n.*492C=) c.*2016C= (n.*2016C=) c.1766C= (p.Pro589=) c.1402-10467C= (n.1402-10467C=) c.2102C= (p.Pro701=) c.2282C= (p.Pro761=) c.1949C= (p.Pro650=) | |
| 7 | g.117592359C>G | CA368980342 | CFTR | c.2192C>G (p.Pro731Arg) c.*1906C>G (n.*1906C>G) c.2009C>G (p.Pro670Arg) c.*492C>G (n.*492C>G) c.*2016C>G (n.*2016C>G) c.1766C>G (p.Pro589Arg) c.1402-10467C>G (n.1402-10467C>G) c.2102C>G (p.Pro701Arg) c.2282C>G (p.Pro761Arg) c.1949C>G (p.Pro650Arg) | ClinVar dbSNP |
| 7 | g.117592359C>T | CA4451152 | CFTR | c.2192C>T (p.Pro731Leu) c.*1906C>T (n.*1906C>T) c.2009C>T (p.Pro670Leu) c.*492C>T (n.*492C>T) c.*2016C>T (n.*2016C>T) c.1766C>T (p.Pro589Leu) c.1402-10467C>T (n.1402-10467C>T) c.2102C>T (p.Pro701Leu) c.2282C>T (p.Pro761Leu) c.1949C>T (p.Pro650Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592360T>A | CA457449413 | CFTR | c.2193T>A (p.Pro731=) c.*1907T>A (n.*1907T>A) c.2010T>A (p.Pro670=) c.*493T>A (n.*493T>A) c.*2017T>A (n.*2017T>A) c.1767T>A (p.Pro589=) c.1402-10466T>A (n.1402-10466T>A) c.2103T>A (p.Pro701=) c.2283T>A (p.Pro761=) c.1950T>A (p.Pro650=) | |
| 7 | g.117592360T>C | CA10605877 | CFTR | c.2193T>C (p.Pro731=) c.*1907T>C (n.*1907T>C) c.2010T>C (p.Pro670=) c.*493T>C (n.*493T>C) c.*2017T>C (n.*2017T>C) c.1767T>C (p.Pro589=) c.1402-10466T>C (n.1402-10466T>C) c.2103T>C (p.Pro701=) c.2283T>C (p.Pro761=) c.1950T>C (p.Pro650=) | ClinVar dbSNP |
| 7 | g.117592360T>G | CA457449414 | CFTR | c.2193T>G (p.Pro731=) c.*1907T>G (n.*1907T>G) c.2010T>G (p.Pro670=) c.*493T>G (n.*493T>G) c.*2017T>G (n.*2017T>G) c.1767T>G (p.Pro589=) c.1402-10466T>G (n.1402-10466T>G) c.2103T>G (p.Pro701=) c.2283T>G (p.Pro761=) c.1950T>G (p.Pro650=) | |
| 7 | g.117592360T= | CA1737394991 | CFTR | c.2193T= (p.Pro731=) c.*1907T= (n.*1907T=) c.2010T= (p.Pro670=) c.*493T= (n.*493T=) c.*2017T= (n.*2017T=) c.1767T= (p.Pro589=) c.1402-10466T= (n.1402-10466T=) c.2103T= (p.Pro701=) c.2283T= (p.Pro761=) c.1950T= (p.Pro650=) | |
| 7 | g.117592361T>A | CA368980345 | CFTR | c.2194T>A (p.Leu732Ile) c.*1908T>A (n.*1908T>A) c.2011T>A (p.Leu671Ile) c.*494T>A (n.*494T>A) c.*2018T>A (n.*2018T>A) c.1768T>A (p.Leu590Ile) c.1402-10465T>A (n.1402-10465T>A) c.2104T>A (p.Leu702Ile) c.2284T>A (p.Leu762Ile) c.1951T>A (p.Leu651Ile) | |
| 7 | g.117592361T>C | CA457449415 | CFTR | c.2194T>C (p.Leu732=) c.*1908T>C (n.*1908T>C) c.2011T>C (p.Leu671=) c.*494T>C (n.*494T>C) c.*2018T>C (n.*2018T>C) c.1768T>C (p.Leu590=) c.1402-10465T>C (n.1402-10465T>C) c.2104T>C (p.Leu702=) c.2284T>C (p.Leu762=) c.1951T>C (p.Leu651=) | |
| 7 | g.117592361T>G | CA368980344 | CFTR | c.2194T>G (p.Leu732Val) c.*1908T>G (n.*1908T>G) c.2011T>G (p.Leu671Val) c.*494T>G (n.*494T>G) c.*2018T>G (n.*2018T>G) c.1768T>G (p.Leu590Val) c.1402-10465T>G (n.1402-10465T>G) c.2104T>G (p.Leu702Val) c.2284T>G (p.Leu762Val) c.1951T>G (p.Leu651Val) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592362T>A | CA368980346 | CFTR | c.2195T>A (p.Leu732Ter) c.*1909T>A (n.*1909T>A) c.2012T>A (p.Leu671Ter) c.*495T>A (n.*495T>A) c.*2019T>A (n.*2019T>A) c.1769T>A (p.Leu590Ter) c.1402-10464T>A (n.1402-10464T>A) c.2105T>A (p.Leu702Ter) c.2285T>A (p.Leu762Ter) c.1952T>A (p.Leu651Ter) | |
| 7 | g.117592362T>C | CA368980347 | CFTR | c.2195T>C (p.Leu732Ser) c.*1909T>C (n.*1909T>C) c.2012T>C (p.Leu671Ser) c.*495T>C (n.*495T>C) c.*2019T>C (n.*2019T>C) c.1769T>C (p.Leu590Ser) c.1402-10464T>C (n.1402-10464T>C) c.2105T>C (p.Leu702Ser) c.2285T>C (p.Leu762Ser) c.1952T>C (p.Leu651Ser) | |
| 7 | g.117592362T>G | CA328095 | CFTR | c.2195T>G (p.Leu732Ter) c.*1909T>G (n.*1909T>G) c.2012T>G (p.Leu671Ter) c.*495T>G (n.*495T>G) c.*2019T>G (n.*2019T>G) c.1769T>G (p.Leu590Ter) c.1402-10464T>G (n.1402-10464T>G) c.2105T>G (p.Leu702Ter) c.2285T>G (p.Leu762Ter) c.1952T>G (p.Leu651Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592362T= | CA1737394995 | CFTR | c.2195T= (p.Leu732=) c.*1909T= (n.*1909T=) c.2012T= (p.Leu671=) c.*495T= (n.*495T=) c.*2019T= (n.*2019T=) c.1769T= (p.Leu590=) c.1402-10464T= (n.1402-10464T=) c.2105T= (p.Leu702=) c.2285T= (p.Leu762=) c.1952T= (p.Leu651=) | |
| 7 | g.117592363A>C | CA368980348 | CFTR | c.2196A>C (p.Leu732Phe) c.*1910A>C (n.*1910A>C) c.2013A>C (p.Leu671Phe) c.*496A>C (n.*496A>C) c.*2020A>C (n.*2020A>C) c.1770A>C (p.Leu590Phe) c.1402-10463A>C (n.1402-10463A>C) c.2106A>C (p.Leu702Phe) c.2286A>C (p.Leu762Phe) c.1953A>C (p.Leu651Phe) | |
| 7 | g.117592363A>G | CA457449416 | CFTR | c.2196A>G (p.Leu732=) c.*1910A>G (n.*1910A>G) c.2013A>G (p.Leu671=) c.*496A>G (n.*496A>G) c.*2020A>G (n.*2020A>G) c.1770A>G (p.Leu590=) c.1402-10463A>G (n.1402-10463A>G) c.2106A>G (p.Leu702=) c.2286A>G (p.Leu762=) c.1953A>G (p.Leu651=) | gnomAD v4 |
| 7 | g.117592363A>T | CA368980349 | CFTR | c.2196A>T (p.Leu732Phe) c.*1910A>T (n.*1910A>T) c.2013A>T (p.Leu671Phe) c.*496A>T (n.*496A>T) c.*2020A>T (n.*2020A>T) c.1770A>T (p.Leu590Phe) c.1402-10463A>T (n.1402-10463A>T) c.2106A>T (p.Leu702Phe) c.2286A>T (p.Leu762Phe) c.1953A>T (p.Leu651Phe) | |
| 7 | g.117592364G>A | CA368980350 | CFTR | c.2197G>A (p.Glu733Lys) c.*1911G>A (n.*1911G>A) c.2014G>A (p.Glu672Lys) c.*497G>A (n.*497G>A) c.*2021G>A (n.*2021G>A) c.1771G>A (p.Glu591Lys) c.1402-10462G>A (n.1402-10462G>A) c.2107G>A (p.Glu703Lys) c.2287G>A (p.Glu763Lys) c.1954G>A (p.Glu652Lys) | |
| 7 | g.117592364G>C | CA368980351 | CFTR | c.2197G>C (p.Glu733Gln) c.*1911G>C (n.*1911G>C) c.2014G>C (p.Glu672Gln) c.*497G>C (n.*497G>C) c.*2021G>C (n.*2021G>C) c.1771G>C (p.Glu591Gln) c.1402-10462G>C (n.1402-10462G>C) c.2107G>C (p.Glu703Gln) c.2287G>C (p.Glu763Gln) c.1954G>C (p.Glu652Gln) | |
| 7 | g.117592364G>T | CA368980352 | CFTR | c.2197G>T (p.Glu733Ter) c.*1911G>T (n.*1911G>T) c.2014G>T (p.Glu672Ter) c.*497G>T (n.*497G>T) c.*2021G>T (n.*2021G>T) c.1771G>T (p.Glu591Ter) c.1402-10462G>T (n.1402-10462G>T) c.2107G>T (p.Glu703Ter) c.2287G>T (p.Glu763Ter) c.1954G>T (p.Glu652Ter) | |
| 7 | g.117592365A>C | CA368980353 | CFTR | c.2198A>C (p.Glu733Ala) c.*1912A>C (n.*1912A>C) c.2015A>C (p.Glu672Ala) c.*498A>C (n.*498A>C) c.*2022A>C (n.*2022A>C) c.1772A>C (p.Glu591Ala) c.1402-10461A>C (n.1402-10461A>C) c.2108A>C (p.Glu703Ala) c.2288A>C (p.Glu763Ala) c.1955A>C (p.Glu652Ala) | |
| 7 | g.117592365A>G | CA368980354 | CFTR | c.2198A>G (p.Glu733Gly) c.*1912A>G (n.*1912A>G) c.2015A>G (p.Glu672Gly) c.*498A>G (n.*498A>G) c.*2022A>G (n.*2022A>G) c.1772A>G (p.Glu591Gly) c.1402-10461A>G (n.1402-10461A>G) c.2108A>G (p.Glu703Gly) c.2288A>G (p.Glu763Gly) c.1955A>G (p.Glu652Gly) | |
| 7 | g.117592365A>T | CA368980358 | CFTR | c.2198A>T (p.Glu733Val) c.*1912A>T (n.*1912A>T) c.2015A>T (p.Glu672Val) c.*498A>T (n.*498A>T) c.*2022A>T (n.*2022A>T) c.1772A>T (p.Glu591Val) c.1402-10461A>T (n.1402-10461A>T) c.2108A>T (p.Glu703Val) c.2288A>T (p.Glu763Val) c.1955A>T (p.Glu652Val) | |
| 7 | g.117592366G>A | CA457449418 | CFTR | c.2199G>A (p.Glu733=) c.*1913G>A (n.*1913G>A) c.2016G>A (p.Glu672=) c.*499G>A (n.*499G>A) c.*2023G>A (n.*2023G>A) c.1773G>A (p.Glu591=) c.1402-10460G>A (n.1402-10460G>A) c.2109G>A (p.Glu703=) c.2289G>A (p.Glu763=) c.1956G>A (p.Glu652=) | |
| 7 | g.117592366G>C | CA368980363 | CFTR | c.2199G>C (p.Glu733Asp) c.*1913G>C (n.*1913G>C) c.2016G>C (p.Glu672Asp) c.*499G>C (n.*499G>C) c.*2023G>C (n.*2023G>C) c.1773G>C (p.Glu591Asp) c.1402-10460G>C (n.1402-10460G>C) c.2109G>C (p.Glu703Asp) c.2289G>C (p.Glu763Asp) c.1956G>C (p.Glu652Asp) | |
| 7 | g.117592366G>T | CA368980360 | CFTR | c.2199G>T (p.Glu733Asp) c.*1913G>T (n.*1913G>T) c.2016G>T (p.Glu672Asp) c.*499G>T (n.*499G>T) c.*2023G>T (n.*2023G>T) c.1773G>T (p.Glu591Asp) c.1402-10460G>T (n.1402-10460G>T) c.2109G>T (p.Glu703Asp) c.2289G>T (p.Glu763Asp) c.1956G>T (p.Glu652Asp) | |
| 7 | g.117592367A>C | CA457449419 | CFTR | c.2200A>C (p.Arg734=) c.*1914A>C (n.*1914A>C) c.2017A>C (p.Arg673=) c.*500A>C (n.*500A>C) c.*2024A>C (n.*2024A>C) c.1774A>C (p.Arg592=) c.1402-10459A>C (n.1402-10459A>C) c.2110A>C (p.Arg704=) c.2290A>C (p.Arg764=) c.1957A>C (p.Arg653=) | |
| 7 | g.117592367A>G | CA368980366 | CFTR | c.2200A>G (p.Arg734Gly) c.*1914A>G (n.*1914A>G) c.2017A>G (p.Arg673Gly) c.*500A>G (n.*500A>G) c.*2024A>G (n.*2024A>G) c.1774A>G (p.Arg592Gly) c.1402-10459A>G (n.1402-10459A>G) c.2110A>G (p.Arg704Gly) c.2290A>G (p.Arg764Gly) c.1957A>G (p.Arg653Gly) | ClinVar gnomAD v4 |
| 7 | g.117592367A>T | CA368980368 | CFTR | c.2200A>T (p.Arg734Ter) c.*1914A>T (n.*1914A>T) c.2017A>T (p.Arg673Ter) c.*500A>T (n.*500A>T) c.*2024A>T (n.*2024A>T) c.1774A>T (p.Arg592Ter) c.1402-10459A>T (n.1402-10459A>T) c.2110A>T (p.Arg704Ter) c.2290A>T (p.Arg764Ter) c.1957A>T (p.Arg653Ter) | |
| 7 | g.117592369_117592371del | CA2684619358 | CFTR | c.2202_2204del (p.Arg735del) c.*1916_*1918del (n.*1916_*1918del) c.2019_2021del (p.Arg674del) c.*502_*504del (n.*502_*504del) c.*2026_*2028del (n.*2026_*2028del) c.1776_1778del (p.Arg593del) c.1402-10457_1402-10455del (n.1402-10457_1402-10455del) c.2112_2114del (p.Arg705del) c.2292_2294del (p.Arg765del) c.1959_1961del (p.Arg654del) | gnomAD v4 |
| 7 | g.117592368G>A | CA368980371 | CFTR | c.2201G>A (p.Arg734Lys) c.*1915G>A (n.*1915G>A) c.2018G>A (p.Arg673Lys) c.*501G>A (n.*501G>A) c.*2025G>A (n.*2025G>A) c.1775G>A (p.Arg592Lys) c.1402-10458G>A (n.1402-10458G>A) c.2111G>A (p.Arg704Lys) c.2291G>A (p.Arg764Lys) c.1958G>A (p.Arg653Lys) | |
| 7 | g.117592368G>C | CA368980373 | CFTR | c.2201G>C (p.Arg734Thr) c.*1915G>C (n.*1915G>C) c.2018G>C (p.Arg673Thr) c.*501G>C (n.*501G>C) c.*2025G>C (n.*2025G>C) c.1775G>C (p.Arg592Thr) c.1402-10458G>C (n.1402-10458G>C) c.2111G>C (p.Arg704Thr) c.2291G>C (p.Arg764Thr) c.1958G>C (p.Arg653Thr) | |
| 7 | g.117592368G>T | CA368980375 | CFTR | c.2201G>T (p.Arg734Ile) c.*1915G>T (n.*1915G>T) c.2018G>T (p.Arg673Ile) c.*501G>T (n.*501G>T) c.*2025G>T (n.*2025G>T) c.1775G>T (p.Arg592Ile) c.1402-10458G>T (n.1402-10458G>T) c.2111G>T (p.Arg704Ile) c.2291G>T (p.Arg764Ile) c.1958G>T (p.Arg653Ile) | |
| 7 | g.117592368_117592369delinsGA | CA1737395000 | CFTR | c.2201_2202delinsGA (p.Arg734=) c.*1915_*1916delinsGA (n.*1915_*1916delinsGA) c.2018_2019delinsGA (p.Arg673=) c.*501_*502delinsGA (n.*501_*502delinsGA) c.*2025_*2026delinsGA (n.*2025_*2026delinsGA) c.1775_1776delinsGA (p.Arg592=) c.1402-10458_1402-10457delinsGA (n.1402-10458_1402-10457delinsGA) c.2111_2112delinsGA (p.Arg704=) c.2291_2292delinsGA (p.Arg764=) c.1958_1959delinsGA (p.Arg653=) | |
| 7 | g.117592369A>C | CA368980378 | CFTR | c.2202A>C (p.Arg734Ser) c.*1916A>C (n.*1916A>C) c.2019A>C (p.Arg673Ser) c.*502A>C (n.*502A>C) c.*2026A>C (n.*2026A>C) c.1776A>C (p.Arg592Ser) c.1402-10457A>C (n.1402-10457A>C) c.2112A>C (p.Arg704Ser) c.2292A>C (p.Arg764Ser) c.1959A>C (p.Arg653Ser) | |
| 7 | g.117592369A>G | CA457449423 | CFTR | c.2202A>G (p.Arg734=) c.*1916A>G (n.*1916A>G) c.2019A>G (p.Arg673=) c.*502A>G (n.*502A>G) c.*2026A>G (n.*2026A>G) c.1776A>G (p.Arg592=) c.1402-10457A>G (n.1402-10457A>G) c.2112A>G (p.Arg704=) c.2292A>G (p.Arg764=) c.1959A>G (p.Arg653=) | ClinVar |
| 7 | g.117592369A>T | CA368980380 | CFTR | c.2202A>T (p.Arg734Ser) c.*1916A>T (n.*1916A>T) c.2019A>T (p.Arg673Ser) c.*502A>T (n.*502A>T) c.*2026A>T (n.*2026A>T) c.1776A>T (p.Arg592Ser) c.1402-10457A>T (n.1402-10457A>T) c.2112A>T (p.Arg704Ser) c.2292A>T (p.Arg764Ser) c.1959A>T (p.Arg653Ser) | |
| 7 | g.117592370del | CA326767 | CFTR | c.2203del (p.Arg735GlyfsTer4) c.*1917del (n.*1917del) c.2020del (p.Arg674GlyfsTer4) c.*503del (n.*503del) c.*2027del (n.*2027del) c.1777del (p.Arg593GlyfsTer4) c.1402-10456del (n.1402-10456del) c.2113del (p.Arg705GlyfsTer4) c.2293del (p.Arg765GlyfsTer4) c.1960del (p.Arg654GlyfsTer4) | ClinVar dbSNP |
| 7 | g.117592370A>C | CA457449427 | CFTR | c.2203A>C (p.Arg735=) c.*1917A>C (n.*1917A>C) c.2020A>C (p.Arg674=) c.*503A>C (n.*503A>C) c.*2027A>C (n.*2027A>C) c.1777A>C (p.Arg593=) c.1402-10456A>C (n.1402-10456A>C) c.2113A>C (p.Arg705=) c.2293A>C (p.Arg765=) c.1960A>C (p.Arg654=) | |
| 7 | g.117592370A>G | CA368980385 | CFTR | c.2203A>G (p.Arg735Gly) c.*1917A>G (n.*1917A>G) c.2020A>G (p.Arg674Gly) c.*503A>G (n.*503A>G) c.*2027A>G (n.*2027A>G) c.1777A>G (p.Arg593Gly) c.1402-10456A>G (n.1402-10456A>G) c.2113A>G (p.Arg705Gly) c.2293A>G (p.Arg765Gly) c.1960A>G (p.Arg654Gly) |