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.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) | |
| 7 | g.117592183A= | CA1737394479 | CFTR | c.2016A= (p.Glu672=) c.*1730A= (n.*1730A=) c.1833A= (p.Glu611=) c.*316A= (n.*316A=) c.*1840A= (n.*1840A=) c.1590A= (p.Glu530=) c.1402-10643A= (n.1402-10643A=) c.1926A= (p.Glu642=) c.2106A= (p.Glu702=) c.1773A= (p.Glu591=) | |
| 7 | g.117592183A>C | CA368979243 | CFTR | c.2016A>C (p.Glu672Asp) c.*1730A>C (n.*1730A>C) c.1833A>C (p.Glu611Asp) c.*316A>C (n.*316A>C) c.*1840A>C (n.*1840A>C) c.1590A>C (p.Glu530Asp) c.1402-10643A>C (n.1402-10643A>C) c.1926A>C (p.Glu642Asp) c.2106A>C (p.Glu702Asp) c.1773A>C (p.Glu591Asp) | |
| 7 | g.117592183A>G | CA457448998 | CFTR | c.2016A>G (p.Glu672=) c.*1730A>G (n.*1730A>G) c.1833A>G (p.Glu611=) c.*316A>G (n.*316A>G) c.*1840A>G (n.*1840A>G) c.1590A>G (p.Glu530=) c.1402-10643A>G (n.1402-10643A>G) c.1926A>G (p.Glu642=) c.2106A>G (p.Glu702=) c.1773A>G (p.Glu591=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117592183A>T | CA368979249 | CFTR | c.2016A>T (p.Glu672Asp) c.*1730A>T (n.*1730A>T) c.1833A>T (p.Glu611Asp) c.*316A>T (n.*316A>T) c.*1840A>T (n.*1840A>T) c.1590A>T (p.Glu530Asp) c.1402-10643A>T (n.1402-10643A>T) c.1926A>T (p.Glu642Asp) c.2106A>T (p.Glu702Asp) c.1773A>T (p.Glu591Asp) | |
| 7 | g.117592184G>A | CA368979251 | CFTR | c.2017G>A (p.Gly673Arg) c.*1731G>A (n.*1731G>A) c.1834G>A (p.Gly612Arg) c.*317G>A (n.*317G>A) c.*1841G>A (n.*1841G>A) c.1591G>A (p.Gly531Arg) c.1402-10642G>A (n.1402-10642G>A) c.1927G>A (p.Gly643Arg) c.2107G>A (p.Gly703Arg) c.1774G>A (p.Gly592Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117592184G>C | CA368979254 | CFTR | c.2017G>C (p.Gly673Arg) c.*1731G>C (n.*1731G>C) c.1834G>C (p.Gly612Arg) c.*317G>C (n.*317G>C) c.*1841G>C (n.*1841G>C) c.1591G>C (p.Gly531Arg) c.1402-10642G>C (n.1402-10642G>C) c.1927G>C (p.Gly643Arg) c.2107G>C (p.Gly703Arg) c.1774G>C (p.Gly592Arg) | |
| 7 | g.117592184G= | CA1737394484 | CFTR | c.2017G= (p.Gly673=) c.*1731G= (n.*1731G=) c.1834G= (p.Gly612=) c.*317G= (n.*317G=) c.*1841G= (n.*1841G=) c.1591G= (p.Gly531=) c.1402-10642G= (n.1402-10642G=) c.1927G= (p.Gly643=) c.2107G= (p.Gly703=) c.1774G= (p.Gly592=) | |
| 7 | g.117592184G>T | CA326730 | CFTR | c.2017G>T (p.Gly673Ter) c.*1731G>T (n.*1731G>T) c.1834G>T (p.Gly612Ter) c.*317G>T (n.*317G>T) c.*1841G>T (n.*1841G>T) c.1591G>T (p.Gly531Ter) c.1402-10642G>T (n.1402-10642G>T) c.1927G>T (p.Gly643Ter) c.2107G>T (p.Gly703Ter) c.1774G>T (p.Gly592Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592185G>A | CA368979260 | CFTR | c.2018G>A (p.Gly673Glu) c.*1732G>A (n.*1732G>A) c.1835G>A (p.Gly612Glu) c.*318G>A (n.*318G>A) c.*1842G>A (n.*1842G>A) c.1592G>A (p.Gly531Glu) c.1402-10641G>A (n.1402-10641G>A) c.1928G>A (p.Gly643Glu) c.2108G>A (p.Gly703Glu) c.1775G>A (p.Gly592Glu) | |
| 7 | g.117592185G>C | CA368979255 | CFTR | c.2018G>C (p.Gly673Ala) c.*1732G>C (n.*1732G>C) c.1835G>C (p.Gly612Ala) c.*318G>C (n.*318G>C) c.*1842G>C (n.*1842G>C) c.1592G>C (p.Gly531Ala) c.1402-10641G>C (n.1402-10641G>C) c.1928G>C (p.Gly643Ala) c.2108G>C (p.Gly703Ala) c.1775G>C (p.Gly592Ala) | |
| 7 | g.117592185G>T | CA368979258 | CFTR | c.2018G>T (p.Gly673Val) c.*1732G>T (n.*1732G>T) c.1835G>T (p.Gly612Val) c.*318G>T (n.*318G>T) c.*1842G>T (n.*1842G>T) c.1592G>T (p.Gly531Val) c.1402-10641G>T (n.1402-10641G>T) c.1928G>T (p.Gly643Val) c.2108G>T (p.Gly703Val) c.1775G>T (p.Gly592Val) | |
| 7 | g.117592186A>C | CA457449000 | CFTR | c.2019A>C (p.Gly673=) c.*1733A>C (n.*1733A>C) c.1836A>C (p.Gly612=) c.*319A>C (n.*319A>C) c.*1843A>C (n.*1843A>C) c.1593A>C (p.Gly531=) c.1402-10640A>C (n.1402-10640A>C) c.1929A>C (p.Gly643=) c.2109A>C (p.Gly703=) c.1776A>C (p.Gly592=) | |
| 7 | g.117592186A>G | CA457449001 | CFTR | c.2019A>G (p.Gly673=) c.*1733A>G (n.*1733A>G) c.1836A>G (p.Gly612=) c.*319A>G (n.*319A>G) c.*1843A>G (n.*1843A>G) c.1593A>G (p.Gly531=) c.1402-10640A>G (n.1402-10640A>G) c.1929A>G (p.Gly643=) c.2109A>G (p.Gly703=) c.1776A>G (p.Gly592=) | ClinVar dbSNP |
| 7 | g.117592186A>T | CA457448999 | CFTR | c.2019A>T (p.Gly673=) c.*1733A>T (n.*1733A>T) c.1836A>T (p.Gly612=) c.*319A>T (n.*319A>T) c.*1843A>T (n.*1843A>T) c.1593A>T (p.Gly531=) c.1402-10640A>T (n.1402-10640A>T) c.1929A>T (p.Gly643=) c.2109A>T (p.Gly703=) c.1776A>T (p.Gly592=) | |
| 7 | g.117592187G>A | CA368979261 | CFTR | c.2020G>A (p.Asp674Asn) c.*1734G>A (n.*1734G>A) c.1837G>A (p.Asp613Asn) c.*320G>A (n.*320G>A) c.*1844G>A (n.*1844G>A) c.1594G>A (p.Asp532Asn) c.1402-10639G>A (n.1402-10639G>A) c.1930G>A (p.Asp644Asn) c.2110G>A (p.Asp704Asn) c.1777G>A (p.Asp593Asn) | |
| 7 | g.117592187G>C | CA368979262 | CFTR | c.2020G>C (p.Asp674His) c.*1734G>C (n.*1734G>C) c.1837G>C (p.Asp613His) c.*320G>C (n.*320G>C) c.*1844G>C (n.*1844G>C) c.1594G>C (p.Asp532His) c.1402-10639G>C (n.1402-10639G>C) c.1930G>C (p.Asp644His) c.2110G>C (p.Asp704His) c.1777G>C (p.Asp593His) | |
| 7 | g.117592187G= | CA1737394490 | CFTR | c.2020G= (p.Asp674=) c.*1734G= (n.*1734G=) c.1837G= (p.Asp613=) c.*320G= (n.*320G=) c.*1844G= (n.*1844G=) c.1594G= (p.Asp532=) c.1402-10639G= (n.1402-10639G=) c.1930G= (p.Asp644=) c.2110G= (p.Asp704=) c.1777G= (p.Asp593=) | |
| 7 | g.117592187G>T | CA368979266 | CFTR | c.2020G>T (p.Asp674Tyr) c.*1734G>T (n.*1734G>T) c.1837G>T (p.Asp613Tyr) c.*320G>T (n.*320G>T) c.*1844G>T (n.*1844G>T) c.1594G>T (p.Asp532Tyr) c.1402-10639G>T (n.1402-10639G>T) c.1930G>T (p.Asp644Tyr) c.2110G>T (p.Asp704Tyr) c.1777G>T (p.Asp593Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |