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.117592205A>C | CA368979350 | CFTR | c.2038A>C (p.Thr680Pro) c.*1752A>C (n.*1752A>C) c.1855A>C (p.Thr619Pro) c.*338A>C (n.*338A>C) c.*1862A>C (n.*1862A>C) c.1612A>C (p.Thr538Pro) c.1402-10621A>C (n.1402-10621A>C) c.1948A>C (p.Thr650Pro) c.2128A>C (p.Thr710Pro) c.1795A>C (p.Thr599Pro) | |
7 | g.117592205A>G | CA368979352 | CFTR | c.2038A>G (p.Thr680Ala) c.*1752A>G (n.*1752A>G) c.1855A>G (p.Thr619Ala) c.*338A>G (n.*338A>G) c.*1862A>G (n.*1862A>G) c.1612A>G (p.Thr538Ala) c.1402-10621A>G (n.1402-10621A>G) c.1948A>G (p.Thr650Ala) c.2128A>G (p.Thr710Ala) c.1795A>G (p.Thr599Ala) | |
7 | g.117592205A>T | CA368979348 | CFTR | c.2038A>T (p.Thr680Ser) c.*1752A>T (n.*1752A>T) c.1855A>T (p.Thr619Ser) c.*338A>T (n.*338A>T) c.*1862A>T (n.*1862A>T) c.1612A>T (p.Thr538Ser) c.1402-10621A>T (n.1402-10621A>T) c.1948A>T (p.Thr650Ser) c.2128A>T (p.Thr710Ser) c.1795A>T (p.Thr599Ser) | |
7 | g.117592206C>A | CA368979356 | CFTR | c.2039C>A (p.Thr680Lys) c.*1753C>A (n.*1753C>A) c.1856C>A (p.Thr619Lys) c.*339C>A (n.*339C>A) c.*1863C>A (n.*1863C>A) c.1613C>A (p.Thr538Lys) c.1402-10620C>A (n.1402-10620C>A) c.1949C>A (p.Thr650Lys) c.2129C>A (p.Thr710Lys) c.1796C>A (p.Thr599Lys) | gnomAD v3 gnomAD v4 |
7 | g.117592206C>G | CA368979357 | CFTR | c.2039C>G (p.Thr680Arg) c.*1753C>G (n.*1753C>G) c.1856C>G (p.Thr619Arg) c.*339C>G (n.*339C>G) c.*1863C>G (n.*1863C>G) c.1613C>G (p.Thr538Arg) c.1402-10620C>G (n.1402-10620C>G) c.1949C>G (p.Thr650Arg) c.2129C>G (p.Thr710Arg) c.1796C>G (p.Thr599Arg) | gnomAD v4 |
7 | g.117592206C>T | CA368979360 | CFTR | c.2039C>T (p.Thr680Ile) c.*1753C>T (n.*1753C>T) c.1856C>T (p.Thr619Ile) c.*339C>T (n.*339C>T) c.*1863C>T (n.*1863C>T) c.1613C>T (p.Thr538Ile) c.1402-10620C>T (n.1402-10620C>T) c.1949C>T (p.Thr650Ile) c.2129C>T (p.Thr710Ile) c.1796C>T (p.Thr599Ile) | |
7 | g.117592207A>C | CA457449014 | CFTR | c.2040A>C (p.Thr680=) c.*1754A>C (n.*1754A>C) c.1857A>C (p.Thr619=) c.*340A>C (n.*340A>C) c.*1864A>C (n.*1864A>C) c.1614A>C (p.Thr538=) c.1402-10619A>C (n.1402-10619A>C) c.1950A>C (p.Thr650=) c.2130A>C (p.Thr710=) c.1797A>C (p.Thr599=) | gnomAD v4 |
7 | g.117592207A>G | CA457449015 | CFTR | c.2040A>G (p.Thr680=) c.*1754A>G (n.*1754A>G) c.1857A>G (p.Thr619=) c.*340A>G (n.*340A>G) c.*1864A>G (n.*1864A>G) c.1614A>G (p.Thr538=) c.1402-10619A>G (n.1402-10619A>G) c.1950A>G (p.Thr650=) c.2130A>G (p.Thr710=) c.1797A>G (p.Thr599=) | |
7 | g.117592207A>T | CA457449016 | CFTR | c.2040A>T (p.Thr680=) c.*1754A>T (n.*1754A>T) c.1857A>T (p.Thr619=) c.*340A>T (n.*340A>T) c.*1864A>T (n.*1864A>T) c.1614A>T (p.Thr538=) c.1402-10619A>T (n.1402-10619A>T) c.1950A>T (p.Thr650=) c.2130A>T (p.Thr710=) c.1797A>T (p.Thr599=) | |
7 | g.117592208_117592209del | CA913111879 | CFTR | c.2041_2042del (p.Glu681AsnfsTer7) c.*1755_*1756del (n.*1755_*1756del) c.1858_1859del (p.Glu620AsnfsTer7) c.*341_*342del (n.*341_*342del) c.*1865_*1866del (n.*1865_*1866del) c.1615_1616del (p.Glu539AsnfsTer7) c.1402-10618_1402-10617del (n.1402-10618_1402-10617del) c.1951_1952del (p.Glu651AsnfsTer7) c.2131_2132del (p.Glu711AsnfsTer7) c.1798_1799del (p.Glu600AsnfsTer7) | |
7 | g.117592208G>A | CA368979363 | CFTR | c.2041G>A (p.Glu681Lys) c.*1755G>A (n.*1755G>A) c.1858G>A (p.Glu620Lys) c.*341G>A (n.*341G>A) c.*1865G>A (n.*1865G>A) c.1615G>A (p.Glu539Lys) c.1402-10618G>A (n.1402-10618G>A) c.1951G>A (p.Glu651Lys) c.2131G>A (p.Glu711Lys) c.1798G>A (p.Glu600Lys) | gnomAD v3 gnomAD v4 |
7 | g.117592208G>C | CA368979366 | CFTR | c.2041G>C (p.Glu681Gln) c.*1755G>C (n.*1755G>C) c.1858G>C (p.Glu620Gln) c.*341G>C (n.*341G>C) c.*1865G>C (n.*1865G>C) c.1615G>C (p.Glu539Gln) c.1402-10618G>C (n.1402-10618G>C) c.1951G>C (p.Glu651Gln) c.2131G>C (p.Glu711Gln) c.1798G>C (p.Glu600Gln) | COSMIC |
7 | g.117592208G= | CA1737394536 | CFTR | c.2041G= (p.Glu681=) c.*1755G= (n.*1755G=) c.1858G= (p.Glu620=) c.*341G= (n.*341G=) c.*1865G= (n.*1865G=) c.1615G= (p.Glu539=) c.1402-10618G= (n.1402-10618G=) c.1951G= (p.Glu651=) c.2131G= (p.Glu711=) c.1798G= (p.Glu600=) | |
7 | g.117592208G>T | CA368979368 | CFTR | c.2041G>T (p.Glu681Ter) c.*1755G>T (n.*1755G>T) c.1858G>T (p.Glu620Ter) c.*341G>T (n.*341G>T) c.*1865G>T (n.*1865G>T) c.1615G>T (p.Glu539Ter) c.1402-10618G>T (n.1402-10618G>T) c.1951G>T (p.Glu651Ter) c.2131G>T (p.Glu711Ter) c.1798G>T (p.Glu600Ter) | |
7 | g.117592208_117592209delinsGA | CA1737394535 | CFTR | c.2041_2042delinsGA (p.Glu681=) c.*1755_*1756delinsGA (n.*1755_*1756delinsGA) c.1858_1859delinsGA (p.Glu620=) c.*341_*342delinsGA (n.*341_*342delinsGA) c.*1865_*1866delinsGA (n.*1865_*1866delinsGA) c.1615_1616delinsGA (p.Glu539=) c.1402-10618_1402-10617delinsGA (n.1402-10618_1402-10617delinsGA) c.1951_1952delinsGA (p.Glu651=) c.2131_2132delinsGA (p.Glu711=) c.1798_1799delinsGA (p.Glu600=) | |
7 | g.117592209A= | CA1737394553 | CFTR | c.2042A= (p.Glu681=) c.*1756A= (n.*1756A=) c.1859A= (p.Glu620=) c.*342A= (n.*342A=) c.*1866A= (n.*1866A=) c.1616A= (p.Glu539=) c.1402-10617A= (n.1402-10617A=) c.1952A= (p.Glu651=) c.2132A= (p.Glu711=) c.1799A= (p.Glu600=) | |
7 | g.117592209A>C | CA368979373 | CFTR | c.2042A>C (p.Glu681Ala) c.*1756A>C (n.*1756A>C) c.1859A>C (p.Glu620Ala) c.*342A>C (n.*342A>C) c.*1866A>C (n.*1866A>C) c.1616A>C (p.Glu539Ala) c.1402-10617A>C (n.1402-10617A>C) c.1952A>C (p.Glu651Ala) c.2132A>C (p.Glu711Ala) c.1799A>C (p.Glu600Ala) | |
7 | g.117592209A>G | CA368979370 | CFTR | c.2042A>G (p.Glu681Gly) c.*1756A>G (n.*1756A>G) c.1859A>G (p.Glu620Gly) c.*342A>G (n.*342A>G) c.*1866A>G (n.*1866A>G) c.1616A>G (p.Glu539Gly) c.1402-10617A>G (n.1402-10617A>G) c.1952A>G (p.Glu651Gly) c.2132A>G (p.Glu711Gly) c.1799A>G (p.Glu600Gly) | |
7 | g.117592209A>T | CA4451133 | CFTR | c.2042A>T (p.Glu681Val) c.*1756A>T (n.*1756A>T) c.1859A>T (p.Glu620Val) c.*342A>T (n.*342A>T) c.*1866A>T (n.*1866A>T) c.1616A>T (p.Glu539Val) c.1402-10617A>T (n.1402-10617A>T) c.1952A>T (p.Glu651Val) c.2132A>T (p.Glu711Val) c.1799A>T (p.Glu600Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592211dup | CA915945425 | CFTR | c.2044dup (p.Thr682AsnfsTer7) c.*1758dup (n.*1758dup) c.1861dup (p.Thr621AsnfsTer7) c.*344dup (n.*344dup) c.*1868dup (n.*1868dup) c.1618dup (p.Thr540AsnfsTer7) c.1402-10615dup (n.1402-10615dup) c.1954dup (p.Thr652AsnfsTer7) c.2134dup (p.Thr712AsnfsTer7) c.1801dup (p.Thr601AsnfsTer7) | ClinVar dbSNP |
7 | g.117592211del | CA658822499 | CFTR | c.2044del (p.Thr682GlnfsTer?) c.*1758del (n.*1758del) c.1861del (p.Thr621GlnfsTer?) c.*344del (n.*344del) c.*1868del (n.*1868del) c.1618del (p.Thr540GlnfsTer?) c.1402-10615del (n.1402-10615del) c.1954del (p.Thr652GlnfsTer?) c.2134del (p.Thr712GlnfsTer?) c.1801del (p.Thr601GlnfsTer?) | ClinVar dbSNP |
7 | g.117592215_117592222dup | CA1106305610 | CFTR | c.2048_2055dup (p.Ser686LysfsTer?) c.*1762_*1769dup (n.*1762_*1769dup) c.1865_1872dup (p.Ser625LysfsTer?) c.*348_*355dup (n.*348_*355dup) c.*1872_*1879dup (n.*1872_*1879dup) c.1622_1629dup (p.Ser544LysfsTer?) c.1402-10611_1402-10604dup (n.1402-10611_1402-10604dup) c.1958_1965dup (p.Ser656LysfsTer?) c.2138_2145dup (p.Ser716LysfsTer?) c.1805_1812dup (p.Ser605LysfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592210A>C | CA368979375 | CFTR | c.2043A>C (p.Glu681Asp) c.*1757A>C (n.*1757A>C) c.1860A>C (p.Glu620Asp) c.*343A>C (n.*343A>C) c.*1867A>C (n.*1867A>C) c.1617A>C (p.Glu539Asp) c.1402-10616A>C (n.1402-10616A>C) c.1953A>C (p.Glu651Asp) c.2133A>C (p.Glu711Asp) c.1800A>C (p.Glu600Asp) | |
7 | g.117592210A>G | CA457449017 | CFTR | c.2043A>G (p.Glu681=) c.*1757A>G (n.*1757A>G) c.1860A>G (p.Glu620=) c.*343A>G (n.*343A>G) c.*1867A>G (n.*1867A>G) c.1617A>G (p.Glu539=) c.1402-10616A>G (n.1402-10616A>G) c.1953A>G (p.Glu651=) c.2133A>G (p.Glu711=) c.1800A>G (p.Glu600=) | |
7 | g.117592210A>T | CA368979377 | CFTR | c.2043A>T (p.Glu681Asp) c.*1757A>T (n.*1757A>T) c.1860A>T (p.Glu620Asp) c.*343A>T (n.*343A>T) c.*1867A>T (n.*1867A>T) c.1617A>T (p.Glu539Asp) c.1402-10616A>T (n.1402-10616A>T) c.1953A>T (p.Glu651Asp) c.2133A>T (p.Glu711Asp) c.1800A>T (p.Glu600Asp) | |
7 | g.117592211A= | CA1737394560 | CFTR | c.2044A= (p.Thr682=) c.*1758A= (n.*1758A=) c.1861A= (p.Thr621=) c.*344A= (n.*344A=) c.*1868A= (n.*1868A=) c.1618A= (p.Thr540=) c.1402-10615A= (n.1402-10615A=) c.1954A= (p.Thr652=) c.2134A= (p.Thr712=) c.1801A= (p.Thr601=) | |
7 | g.117592211A>C | CA368979380 | CFTR | c.2044A>C (p.Thr682Pro) c.*1758A>C (n.*1758A>C) c.1861A>C (p.Thr621Pro) c.*344A>C (n.*344A>C) c.*1868A>C (n.*1868A>C) c.1618A>C (p.Thr540Pro) c.1402-10615A>C (n.1402-10615A>C) c.1954A>C (p.Thr652Pro) c.2134A>C (p.Thr712Pro) c.1801A>C (p.Thr601Pro) | |
7 | g.117592211A>G | CA368979383 | CFTR | c.2044A>G (p.Thr682Ala) c.*1758A>G (n.*1758A>G) c.1861A>G (p.Thr621Ala) c.*344A>G (n.*344A>G) c.*1868A>G (n.*1868A>G) c.1618A>G (p.Thr540Ala) c.1402-10615A>G (n.1402-10615A>G) c.1954A>G (p.Thr652Ala) c.2134A>G (p.Thr712Ala) c.1801A>G (p.Thr601Ala) | |
7 | g.117592211A>T | CA368979386 | CFTR | c.2044A>T (p.Thr682Ser) c.*1758A>T (n.*1758A>T) c.1861A>T (p.Thr621Ser) c.*344A>T (n.*344A>T) c.*1868A>T (n.*1868A>T) c.1618A>T (p.Thr540Ser) c.1402-10615A>T (n.1402-10615A>T) c.1954A>T (p.Thr652Ser) c.2134A>T (p.Thr712Ser) c.1801A>T (p.Thr601Ser) | |
7 | g.117592211_117592212delinsAC | CA1737394561 | CFTR | c.2044_2045delinsAC (p.Thr682=) c.*1758_*1759delinsAC (n.*1758_*1759delinsAC) c.1861_1862delinsAC (p.Thr621=) c.*344_*345delinsAC (n.*344_*345delinsAC) c.*1868_*1869delinsAC (n.*1868_*1869delinsAC) c.1618_1619delinsAC (p.Thr540=) c.1402-10615_1402-10614delinsAC (n.1402-10615_1402-10614delinsAC) c.1954_1955delinsAC (p.Thr652=) c.2134_2135delinsAC (p.Thr712=) c.1801_1802delinsAC (p.Thr601=) | |
7 | g.117592212del | CA915945426 | CFTR | c.2045del (p.Thr682LysfsTer?) c.*1759del (n.*1759del) c.1862del (p.Thr621LysfsTer?) c.*345del (n.*345del) c.*1869del (n.*1869del) c.1619del (p.Thr540LysfsTer?) c.1402-10614del (n.1402-10614del) c.1955del (p.Thr652LysfsTer?) c.2135del (p.Thr712LysfsTer?) c.1802del (p.Thr601LysfsTer?) | ClinVar dbSNP |
7 | g.117592212C>A | CA368979389 | CFTR | c.2045C>A (p.Thr682Lys) c.*1759C>A (n.*1759C>A) c.1862C>A (p.Thr621Lys) c.*345C>A (n.*345C>A) c.*1869C>A (n.*1869C>A) c.1619C>A (p.Thr540Lys) c.1402-10614C>A (n.1402-10614C>A) c.1955C>A (p.Thr652Lys) c.2135C>A (p.Thr712Lys) c.1802C>A (p.Thr601Lys) | ClinVar gnomAD v3 gnomAD v4 |
7 | g.117592212C>G | CA368979394 | CFTR | c.2045C>G (p.Thr682Arg) c.*1759C>G (n.*1759C>G) c.1862C>G (p.Thr621Arg) c.*345C>G (n.*345C>G) c.*1869C>G (n.*1869C>G) c.1619C>G (p.Thr540Arg) c.1402-10614C>G (n.1402-10614C>G) c.1955C>G (p.Thr652Arg) c.2135C>G (p.Thr712Arg) c.1802C>G (p.Thr601Arg) | |
7 | g.117592212C>T | CA368979392 | CFTR | c.2045C>T (p.Thr682Ile) c.*1759C>T (n.*1759C>T) c.1862C>T (p.Thr621Ile) c.*345C>T (n.*345C>T) c.*1869C>T (n.*1869C>T) c.1619C>T (p.Thr540Ile) c.1402-10614C>T (n.1402-10614C>T) c.1955C>T (p.Thr652Ile) c.2135C>T (p.Thr712Ile) c.1802C>T (p.Thr601Ile) | |
7 | g.117592212dup | CA326736 | CFTR | c.2045dup (p.Gln685ThrfsTer4) c.*1759dup (n.*1759dup) c.1862dup (p.Gln624ThrfsTer4) c.*345dup (n.*345dup) c.*1869dup (n.*1869dup) c.1619dup (p.Gln543ThrfsTer4) c.1402-10614dup (n.1402-10614dup) c.1955dup (p.Gln655ThrfsTer4) c.2135dup (p.Gln715ThrfsTer4) c.1802dup (p.Gln604ThrfsTer4) | ClinVar dbSNP |
7 | g.117592212_117592214delinsCAA | CA1737394575 | CFTR | c.2045_2047delinsCAA (p.Thr682=) c.*1759_*1761delinsCAA (n.*1759_*1761delinsCAA) c.1862_1864delinsCAA (p.Thr621=) c.*345_*347delinsCAA (n.*345_*347delinsCAA) c.*1869_*1871delinsCAA (n.*1869_*1871delinsCAA) c.1619_1621delinsCAA (p.Thr540=) c.1402-10614_1402-10612delinsCAA (n.1402-10614_1402-10612delinsCAA) c.1955_1957delinsCAA (p.Thr652=) c.2135_2137delinsCAA (p.Thr712=) c.1802_1804delinsCAA (p.Thr601=) | |
7 | g.117592213A>C | CA457449018 | CFTR | c.2046A>C (p.Thr682=) c.*1760A>C (n.*1760A>C) c.1863A>C (p.Thr621=) c.*346A>C (n.*346A>C) c.*1870A>C (n.*1870A>C) c.1620A>C (p.Thr540=) c.1402-10613A>C (n.1402-10613A>C) c.1956A>C (p.Thr652=) c.2136A>C (p.Thr712=) c.1803A>C (p.Thr601=) | |
7 | g.117592213A>G | CA457449019 | CFTR | c.2046A>G (p.Thr682=) c.*1760A>G (n.*1760A>G) c.1863A>G (p.Thr621=) c.*346A>G (n.*346A>G) c.*1870A>G (n.*1870A>G) c.1620A>G (p.Thr540=) c.1402-10613A>G (n.1402-10613A>G) c.1956A>G (p.Thr652=) c.2136A>G (p.Thr712=) c.1803A>G (p.Thr601=) | ClinVar dbSNP |
7 | g.117592213A>T | CA457449020 | CFTR | c.2046A>T (p.Thr682=) c.*1760A>T (n.*1760A>T) c.1863A>T (p.Thr621=) c.*346A>T (n.*346A>T) c.*1870A>T (n.*1870A>T) c.1620A>T (p.Thr540=) c.1402-10613A>T (n.1402-10613A>T) c.1956A>T (p.Thr652=) c.2136A>T (p.Thr712=) c.1803A>T (p.Thr601=) | |
7 | g.117592219dup | CA233699 | CFTR | c.2052dup (p.Gln685ThrfsTer4) c.*1766dup (n.*1766dup) c.1869dup (p.Gln624ThrfsTer4) c.*352dup (n.*352dup) c.*1876dup (n.*1876dup) c.1626dup (p.Gln543ThrfsTer4) c.1402-10607dup (n.1402-10607dup) c.1962dup (p.Gln655ThrfsTer4) c.2142dup (p.Gln715ThrfsTer4) c.1809dup (p.Gln604ThrfsTer4) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592218_117592219dup | CA913190194 | CFTR | c.2051_2052dup (p.Gln685AsnfsTer?) c.*1765_*1766dup (n.*1765_*1766dup) c.1868_1869dup (p.Gln624AsnfsTer?) c.*351_*352dup (n.*351_*352dup) c.*1875_*1876dup (n.*1875_*1876dup) c.1625_1626dup (p.Gln543AsnfsTer?) c.1402-10608_1402-10607dup (n.1402-10608_1402-10607dup) c.1961_1962dup (p.Gln655AsnfsTer?) c.2141_2142dup (p.Gln715AsnfsTer?) c.1808_1809dup (p.Gln604AsnfsTer?) | ClinVar dbSNP |
7 | g.117592219del | CA344706 | CFTR | c.2052del (p.Lys684AsnfsTer?) c.*1766del (n.*1766del) c.1869del (p.Lys623AsnfsTer?) c.*352del (n.*352del) c.*1876del (n.*1876del) c.1626del (p.Lys542AsnfsTer?) c.1402-10607del (n.1402-10607del) c.1962del (p.Lys654AsnfsTer?) c.2142del (p.Lys714AsnfsTer?) c.1809del (p.Lys603AsnfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592218_117592219del | CA326739 | CFTR | c.2051_2052del (p.Lys684ThrfsTer4) c.*1765_*1766del (n.*1765_*1766del) c.1868_1869del (p.Lys623ThrfsTer4) c.*351_*352del (n.*351_*352del) c.*1875_*1876del (n.*1875_*1876del) c.1625_1626del (p.Lys542ThrfsTer4) c.1402-10608_1402-10607del (n.1402-10608_1402-10607del) c.1961_1962del (p.Lys654ThrfsTer4) c.2141_2142del (p.Lys714ThrfsTer4) c.1808_1809del (p.Lys603ThrfsTer4) | ClinVar dbSNP |
7 | g.117592216_117592219del | CA2573052803 | CFTR | c.2049_2052del (p.Lys683AsnfsTer?) c.*1763_*1766del (n.*1763_*1766del) c.1866_1869del (p.Lys622AsnfsTer?) c.*349_*352del (n.*349_*352del) c.*1873_*1876del (n.*1873_*1876del) c.1623_1626del (p.Lys541AsnfsTer?) c.1402-10610_1402-10607del (n.1402-10610_1402-10607del) c.1959_1962del (p.Lys653AsnfsTer?) c.2139_2142del (p.Lys713AsnfsTer?) c.1806_1809del (p.Lys602AsnfsTer?) | ClinVar dbSNP |
7 | g.117592214A>C | CA368979407 | CFTR | c.2047A>C (p.Lys683Gln) c.*1761A>C (n.*1761A>C) c.1864A>C (p.Lys622Gln) c.*347A>C (n.*347A>C) c.*1871A>C (n.*1871A>C) c.1621A>C (p.Lys541Gln) c.1402-10612A>C (n.1402-10612A>C) c.1957A>C (p.Lys653Gln) c.2137A>C (p.Lys713Gln) c.1804A>C (p.Lys602Gln) | |
7 | g.117592214A>G | CA368979409 | CFTR | c.2047A>G (p.Lys683Glu) c.*1761A>G (n.*1761A>G) c.1864A>G (p.Lys622Glu) c.*347A>G (n.*347A>G) c.*1871A>G (n.*1871A>G) c.1621A>G (p.Lys541Glu) c.1402-10612A>G (n.1402-10612A>G) c.1957A>G (p.Lys653Glu) c.2137A>G (p.Lys713Glu) c.1804A>G (p.Lys602Glu) | |
7 | g.117592214A>T | CA368979411 | CFTR | c.2047A>T (p.Lys683Ter) c.*1761A>T (n.*1761A>T) c.1864A>T (p.Lys622Ter) c.*347A>T (n.*347A>T) c.*1871A>T (n.*1871A>T) c.1621A>T (p.Lys541Ter) c.1402-10612A>T (n.1402-10612A>T) c.1957A>T (p.Lys653Ter) c.2137A>T (p.Lys713Ter) c.1804A>T (p.Lys602Ter) | |
7 | g.117592215A= | CA1737394598 | CFTR | c.2048A= (p.Lys683=) c.*1762A= (n.*1762A=) c.1865A= (p.Lys622=) c.*348A= (n.*348A=) c.*1872A= (n.*1872A=) c.1622A= (p.Lys541=) c.1402-10611A= (n.1402-10611A=) c.1958A= (p.Lys653=) c.2138A= (p.Lys713=) c.1805A= (p.Lys602=) | |
7 | g.117592215A>C | CA368979414 | CFTR | c.2048A>C (p.Lys683Thr) c.*1762A>C (n.*1762A>C) c.1865A>C (p.Lys622Thr) c.*348A>C (n.*348A>C) c.*1872A>C (n.*1872A>C) c.1622A>C (p.Lys541Thr) c.1402-10611A>C (n.1402-10611A>C) c.1958A>C (p.Lys653Thr) c.2138A>C (p.Lys713Thr) c.1805A>C (p.Lys602Thr) | |
7 | g.117592215A>G | CA164947738 | CFTR | c.2048A>G (p.Lys683Arg) c.*1762A>G (n.*1762A>G) c.1865A>G (p.Lys622Arg) c.*348A>G (n.*348A>G) c.*1872A>G (n.*1872A>G) c.1622A>G (p.Lys541Arg) c.1402-10611A>G (n.1402-10611A>G) c.1958A>G (p.Lys653Arg) c.2138A>G (p.Lys713Arg) c.1805A>G (p.Lys602Arg) | dbSNP gnomAD v3 |
7 | g.117592215A>T | CA368979417 | CFTR | c.2048A>T (p.Lys683Ile) c.*1762A>T (n.*1762A>T) c.1865A>T (p.Lys622Ile) c.*348A>T (n.*348A>T) c.*1872A>T (n.*1872A>T) c.1622A>T (p.Lys541Ile) c.1402-10611A>T (n.1402-10611A>T) c.1958A>T (p.Lys653Ile) c.2138A>T (p.Lys713Ile) c.1805A>T (p.Lys602Ile) | |
7 | g.117592216A>C | CA368979421 | CFTR | c.2049A>C (p.Lys683Asn) c.*1763A>C (n.*1763A>C) c.1866A>C (p.Lys622Asn) c.*349A>C (n.*349A>C) c.*1873A>C (n.*1873A>C) c.1623A>C (p.Lys541Asn) c.1402-10610A>C (n.1402-10610A>C) c.1959A>C (p.Lys653Asn) c.2139A>C (p.Lys713Asn) c.1806A>C (p.Lys602Asn) | |
7 | g.117592216A>G | CA457449021 | CFTR | c.2049A>G (p.Lys683=) c.*1763A>G (n.*1763A>G) c.1866A>G (p.Lys622=) c.*349A>G (n.*349A>G) c.*1873A>G (n.*1873A>G) c.1623A>G (p.Lys541=) c.1402-10610A>G (n.1402-10610A>G) c.1959A>G (p.Lys653=) c.2139A>G (p.Lys713=) c.1806A>G (p.Lys602=) | |
7 | g.117592216A>T | CA368979423 | CFTR | c.2049A>T (p.Lys683Asn) c.*1763A>T (n.*1763A>T) c.1866A>T (p.Lys622Asn) c.*349A>T (n.*349A>T) c.*1873A>T (n.*1873A>T) c.1623A>T (p.Lys541Asn) c.1402-10610A>T (n.1402-10610A>T) c.1959A>T (p.Lys653Asn) c.2139A>T (p.Lys713Asn) c.1806A>T (p.Lys602Asn) | |
7 | g.117592216_117592220delinsAAAAC | CA1737394602 | CFTR | c.2049_2053delinsAAAAC (p.Lys683=) c.*1763_*1767delinsAAAAC (n.*1763_*1767delinsAAAAC) c.1866_1870delinsAAAAC (p.Lys622=) c.*349_*353delinsAAAAC (n.*349_*353delinsAAAAC) c.*1873_*1877delinsAAAAC (n.*1873_*1877delinsAAAAC) c.1623_1627delinsAAAAC (p.Lys541=) c.1402-10610_1402-10606delinsAAAAC (n.1402-10610_1402-10606delinsAAAAC) c.1959_1963delinsAAAAC (p.Lys653=) c.2139_2143delinsAAAAC (p.Lys713=) c.1806_1810delinsAAAAC (p.Lys602=) | |
7 | g.117592217A>C | CA368979433 | CFTR | c.2050A>C (p.Lys684Gln) c.*1764A>C (n.*1764A>C) c.1867A>C (p.Lys623Gln) c.*350A>C (n.*350A>C) c.*1874A>C (n.*1874A>C) c.1624A>C (p.Lys542Gln) c.1402-10609A>C (n.1402-10609A>C) c.1960A>C (p.Lys654Gln) c.2140A>C (p.Lys714Gln) c.1807A>C (p.Lys603Gln) | |
7 | g.117592217A>G | CA368979432 | CFTR | c.2050A>G (p.Lys684Glu) c.*1764A>G (n.*1764A>G) c.1867A>G (p.Lys623Glu) c.*350A>G (n.*350A>G) c.*1874A>G (n.*1874A>G) c.1624A>G (p.Lys542Glu) c.1402-10609A>G (n.1402-10609A>G) c.1960A>G (p.Lys654Glu) c.2140A>G (p.Lys714Glu) c.1807A>G (p.Lys603Glu) | |
7 | g.117592217A>T | CA368979427 | CFTR | c.2050A>T (p.Lys684Ter) c.*1764A>T (n.*1764A>T) c.1867A>T (p.Lys623Ter) c.*350A>T (n.*350A>T) c.*1874A>T (n.*1874A>T) c.1624A>T (p.Lys542Ter) c.1402-10609A>T (n.1402-10609A>T) c.1960A>T (p.Lys654Ter) c.2140A>T (p.Lys714Ter) c.1807A>T (p.Lys603Ter) | |
7 | g.117592217_117592219delinsAAA | CA1737394609 | CFTR | c.2050_2052delinsAAA (p.Lys684=) c.*1764_*1766delinsAAA (n.*1764_*1766delinsAAA) c.1867_1869delinsAAA (p.Lys623=) c.*350_*352delinsAAA (n.*350_*352delinsAAA) c.*1874_*1876delinsAAA (n.*1874_*1876delinsAAA) c.1624_1626delinsAAA (p.Lys542=) c.1402-10609_1402-10607delinsAAA (n.1402-10609_1402-10607delinsAAA) c.1960_1962delinsAAA (p.Lys654=) c.2140_2142delinsAAA (p.Lys714=) c.1807_1809delinsAAA (p.Lys603=) | |
7 | g.117592217_117592220delinsAAAC | CA1737394607 | CFTR | c.2050_2053delinsAAAC (p.Lys684=) c.*1764_*1767delinsAAAC (n.*1764_*1767delinsAAAC) c.1867_1870delinsAAAC (p.Lys623=) c.*350_*353delinsAAAC (n.*350_*353delinsAAAC) c.*1874_*1877delinsAAAC (n.*1874_*1877delinsAAAC) c.1624_1627delinsAAAC (p.Lys542=) c.1402-10609_1402-10606delinsAAAC (n.1402-10609_1402-10606delinsAAAC) c.1960_1963delinsAAAC (p.Lys654=) c.2140_2143delinsAAAC (p.Lys714=) c.1807_1810delinsAAAC (p.Lys603=) | |
7 | g.117592219_117592222del | CA368979429 | CFTR | c.2052_2055del (p.Lys684AsnfsTer?) c.*1766_*1769del (n.*1766_*1769del) c.1869_1872del (p.Lys623AsnfsTer?) c.*352_*355del (n.*352_*355del) c.*1876_*1879del (n.*1876_*1879del) c.1626_1629del (p.Lys542AsnfsTer?) c.1402-10607_1402-10604del (n.1402-10607_1402-10604del) c.1962_1965del (p.Lys654AsnfsTer?) c.2142_2145del (p.Lys714AsnfsTer?) c.1809_1812del (p.Lys603AsnfsTer?) | dbSNP |
7 | g.117592218A= | CA1737394622 | CFTR | c.2051A= (p.Lys684=) c.*1765A= (n.*1765A=) c.1868A= (p.Lys623=) c.*351A= (n.*351A=) c.*1875A= (n.*1875A=) c.1625A= (p.Lys542=) c.1402-10608A= (n.1402-10608A=) c.1961A= (p.Lys654=) c.2141A= (p.Lys714=) c.1808A= (p.Lys603=) | |
7 | g.117592218A>C | CA368979438 | CFTR | c.2051A>C (p.Lys684Thr) c.*1765A>C (n.*1765A>C) c.1868A>C (p.Lys623Thr) c.*351A>C (n.*351A>C) c.*1875A>C (n.*1875A>C) c.1625A>C (p.Lys542Thr) c.1402-10608A>C (n.1402-10608A>C) c.1961A>C (p.Lys654Thr) c.2141A>C (p.Lys714Thr) c.1808A>C (p.Lys603Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592218A>G | CA164947746 | CFTR | c.2051A>G (p.Lys684Arg) c.*1765A>G (n.*1765A>G) c.1868A>G (p.Lys623Arg) c.*351A>G (n.*351A>G) c.*1875A>G (n.*1875A>G) c.1625A>G (p.Lys542Arg) c.1402-10608A>G (n.1402-10608A>G) c.1961A>G (p.Lys654Arg) c.2141A>G (p.Lys714Arg) c.1808A>G (p.Lys603Arg) | dbSNP |
7 | g.117592218A>T | CA368979436 | CFTR | c.2051A>T (p.Lys684Ile) c.*1765A>T (n.*1765A>T) c.1868A>T (p.Lys623Ile) c.*351A>T (n.*351A>T) c.*1875A>T (n.*1875A>T) c.1625A>T (p.Lys542Ile) c.1402-10608A>T (n.1402-10608A>T) c.1961A>T (p.Lys654Ile) c.2141A>T (p.Lys714Ile) c.1808A>T (p.Lys603Ile) | |
7 | g.117592218_117592219delinsG | CA325699 | CFTR | c.2051_2052delinsG (p.Lys684SerfsTer?) c.*1765_*1766delinsG (n.*1765_*1766delinsG) c.1868_1869delinsG (p.Lys623SerfsTer?) c.*351_*352delinsG (n.*351_*352delinsG) c.*1875_*1876delinsG (n.*1875_*1876delinsG) c.1625_1626delinsG (p.Lys542SerfsTer?) c.1402-10608_1402-10607delinsG (n.1402-10608_1402-10607delinsG) c.1961_1962delinsG (p.Lys654SerfsTer?) c.2141_2142delinsG (p.Lys714SerfsTer?) c.1808_1809delinsG (p.Lys603SerfsTer?) | ClinVar dbSNP |
7 | g.117592220_117592222del | CA577680764 | CFTR | c.2053_2055del (p.Gln685del) c.*1767_*1769del (n.*1767_*1769del) c.1870_1872del (p.Gln624del) c.*353_*355del (n.*353_*355del) c.*1877_*1879del (n.*1877_*1879del) c.1627_1629del (p.Gln543del) c.1402-10606_1402-10604del (n.1402-10606_1402-10604del) c.1963_1965del (p.Gln655del) c.2143_2145del (p.Gln715del) c.1810_1812del (p.Gln604del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592218_117592219insG | CA923726134 | CFTR | c.2051_2052insG (p.Gln685ThrfsTer4) c.*1765_*1766insG (n.*1765_*1766insG) c.1868_1869insG (p.Gln624ThrfsTer4) c.*351_*352insG (n.*351_*352insG) c.*1875_*1876insG (n.*1875_*1876insG) c.1625_1626insG (p.Gln543ThrfsTer4) c.1402-10608_1402-10607insG (n.1402-10608_1402-10607insG) c.1961_1962insG (p.Gln655ThrfsTer4) c.2141_2142insG (p.Gln715ThrfsTer4) c.1808_1809insG (p.Gln604ThrfsTer4) | |
7 | g.117592219A= | CA1737394631 | CFTR | c.2052A= (p.Lys684=) c.*1766A= (n.*1766A=) c.1869A= (p.Lys623=) c.*352A= (n.*352A=) c.*1876A= (n.*1876A=) c.1626A= (p.Lys542=) c.1402-10607A= (n.1402-10607A=) c.1962A= (p.Lys654=) c.2142A= (p.Lys714=) c.1809A= (p.Lys603=) | |
7 | g.117592219A>C | CA368979443 | CFTR | c.2052A>C (p.Lys684Asn) c.*1766A>C (n.*1766A>C) c.1869A>C (p.Lys623Asn) c.*352A>C (n.*352A>C) c.*1876A>C (n.*1876A>C) c.1626A>C (p.Lys542Asn) c.1402-10607A>C (n.1402-10607A>C) c.1962A>C (p.Lys654Asn) c.2142A>C (p.Lys714Asn) c.1809A>C (p.Lys603Asn) | ClinVar dbSNP |
7 | g.117592219A>G | CA4451134 | CFTR | c.2052A>G (p.Lys684=) c.*1766A>G (n.*1766A>G) c.1869A>G (p.Lys623=) c.*352A>G (n.*352A>G) c.*1876A>G (n.*1876A>G) c.1626A>G (p.Lys542=) c.1402-10607A>G (n.1402-10607A>G) c.1962A>G (p.Lys654=) c.2142A>G (p.Lys714=) c.1809A>G (p.Lys603=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592219A>T | CA368979447 | CFTR | c.2052A>T (p.Lys684Asn) c.*1766A>T (n.*1766A>T) c.1869A>T (p.Lys623Asn) c.*352A>T (n.*352A>T) c.*1876A>T (n.*1876A>T) c.1626A>T (p.Lys542Asn) c.1402-10607A>T (n.1402-10607A>T) c.1962A>T (p.Lys654Asn) c.2142A>T (p.Lys714Asn) c.1809A>T (p.Lys603Asn) | ClinVar dbSNP gnomAD v4 |
7 | g.117592220C>A | CA368979449 | CFTR | c.2053C>A (p.Gln685Lys) c.*1767C>A (n.*1767C>A) c.1870C>A (p.Gln624Lys) c.*353C>A (n.*353C>A) c.*1877C>A (n.*1877C>A) c.1627C>A (p.Gln543Lys) c.1402-10606C>A (n.1402-10606C>A) c.1963C>A (p.Gln655Lys) c.2143C>A (p.Gln715Lys) c.1810C>A (p.Gln604Lys) | COSMIC |
7 | g.117592220C= | CA1737394648 | CFTR | c.2053C= (p.Gln685=) c.*1767C= (n.*1767C=) c.1870C= (p.Gln624=) c.*353C= (n.*353C=) c.*1877C= (n.*1877C=) c.1627C= (p.Gln543=) c.1402-10606C= (n.1402-10606C=) c.1963C= (p.Gln655=) c.2143C= (p.Gln715=) c.1810C= (p.Gln604=) | |
7 | g.117592220C>G | CA368979451 | CFTR | c.2053C>G (p.Gln685Glu) c.*1767C>G (n.*1767C>G) c.1870C>G (p.Gln624Glu) c.*353C>G (n.*353C>G) c.*1877C>G (n.*1877C>G) c.1627C>G (p.Gln543Glu) c.1402-10606C>G (n.1402-10606C>G) c.1963C>G (p.Gln655Glu) c.2143C>G (p.Gln715Glu) c.1810C>G (p.Gln604Glu) | |
7 | g.117592220C>T | CA326740 | CFTR | c.2053C>T (p.Gln685Ter) c.*1767C>T (n.*1767C>T) c.1870C>T (p.Gln624Ter) c.*353C>T (n.*353C>T) c.*1877C>T (n.*1877C>T) c.1627C>T (p.Gln543Ter) c.1402-10606C>T (n.1402-10606C>T) c.1963C>T (p.Gln655Ter) c.2143C>T (p.Gln715Ter) c.1810C>T (p.Gln604Ter) | ClinVar dbSNP |
7 | g.117592220dup | CA276116 | CFTR | c.2053dup (p.Gln685ProfsTer4) c.*1767dup (n.*1767dup) c.1870dup (p.Gln624ProfsTer4) c.*353dup (n.*353dup) c.*1877dup (n.*1877dup) c.1627dup (p.Gln543ProfsTer4) c.1402-10606dup (n.1402-10606dup) c.1963dup (p.Gln655ProfsTer4) c.2143dup (p.Gln715ProfsTer4) c.1810dup (p.Gln604ProfsTer4) | ClinVar dbSNP |
7 | g.117592221A>C | CA368979455 | CFTR | c.2054A>C (p.Gln685Pro) c.*1768A>C (n.*1768A>C) c.1871A>C (p.Gln624Pro) c.*354A>C (n.*354A>C) c.*1878A>C (n.*1878A>C) c.1628A>C (p.Gln543Pro) c.1402-10605A>C (n.1402-10605A>C) c.1964A>C (p.Gln655Pro) c.2144A>C (p.Gln715Pro) c.1811A>C (p.Gln604Pro) | ClinVar |
7 | g.117592221A>G | CA368979456 | CFTR | c.2054A>G (p.Gln685Arg) c.*1768A>G (n.*1768A>G) c.1871A>G (p.Gln624Arg) c.*354A>G (n.*354A>G) c.*1878A>G (n.*1878A>G) c.1628A>G (p.Gln543Arg) c.1402-10605A>G (n.1402-10605A>G) c.1964A>G (p.Gln655Arg) c.2144A>G (p.Gln715Arg) c.1811A>G (p.Gln604Arg) | |
7 | g.117592221A>T | CA368979458 | CFTR | c.2054A>T (p.Gln685Leu) c.*1768A>T (n.*1768A>T) c.1871A>T (p.Gln624Leu) c.*354A>T (n.*354A>T) c.*1878A>T (n.*1878A>T) c.1628A>T (p.Gln543Leu) c.1402-10605A>T (n.1402-10605A>T) c.1964A>T (p.Gln655Leu) c.2144A>T (p.Gln715Leu) c.1811A>T (p.Gln604Leu) | |
7 | g.117592222A= | CA1737394657 | CFTR | c.2055A= (p.Gln685=) c.*1769A= (n.*1769A=) c.1872A= (p.Gln624=) c.*355A= (n.*355A=) c.*1879A= (n.*1879A=) c.1629A= (p.Gln543=) c.1402-10604A= (n.1402-10604A=) c.1965A= (p.Gln655=) c.2145A= (p.Gln715=) c.1812A= (p.Gln604=) | |
7 | g.117592222A>C | CA368979462 | CFTR | c.2055A>C (p.Gln685His) c.*1769A>C (n.*1769A>C) c.1872A>C (p.Gln624His) c.*355A>C (n.*355A>C) c.*1879A>C (n.*1879A>C) c.1629A>C (p.Gln543His) c.1402-10604A>C (n.1402-10604A>C) c.1965A>C (p.Gln655His) c.2145A>C (p.Gln715His) c.1812A>C (p.Gln604His) | |
7 | g.117592222A>G | CA457449022 | CFTR | c.2055A>G (p.Gln685=) c.*1769A>G (n.*1769A>G) c.1872A>G (p.Gln624=) c.*355A>G (n.*355A>G) c.*1879A>G (n.*1879A>G) c.1629A>G (p.Gln543=) c.1402-10604A>G (n.1402-10604A>G) c.1965A>G (p.Gln655=) c.2145A>G (p.Gln715=) c.1812A>G (p.Gln604=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592222A>T | CA368979464 | CFTR | c.2055A>T (p.Gln685His) c.*1769A>T (n.*1769A>T) c.1872A>T (p.Gln624His) c.*355A>T (n.*355A>T) c.*1879A>T (n.*1879A>T) c.1629A>T (p.Gln543His) c.1402-10604A>T (n.1402-10604A>T) c.1965A>T (p.Gln655His) c.2145A>T (p.Gln715His) c.1812A>T (p.Gln604His) | |
7 | g.117592223T>A | CA368979467 | CFTR | c.2056T>A (p.Ser686Thr) c.*1770T>A (n.*1770T>A) c.1873T>A (p.Ser625Thr) c.*356T>A (n.*356T>A) c.*1880T>A (n.*1880T>A) c.1630T>A (p.Ser544Thr) c.1402-10603T>A (n.1402-10603T>A) c.1966T>A (p.Ser656Thr) c.2146T>A (p.Ser716Thr) c.1813T>A (p.Ser605Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592223T>C | CA368979469 | CFTR | c.2056T>C (p.Ser686Pro) c.*1770T>C (n.*1770T>C) c.1873T>C (p.Ser625Pro) c.*356T>C (n.*356T>C) c.*1880T>C (n.*1880T>C) c.1630T>C (p.Ser544Pro) c.1402-10603T>C (n.1402-10603T>C) c.1966T>C (p.Ser656Pro) c.2146T>C (p.Ser716Pro) c.1813T>C (p.Ser605Pro) | |
7 | g.117592223T>G | CA368979471 | CFTR | c.2056T>G (p.Ser686Ala) c.*1770T>G (n.*1770T>G) c.1873T>G (p.Ser625Ala) c.*356T>G (n.*356T>G) c.*1880T>G (n.*1880T>G) c.1630T>G (p.Ser544Ala) c.1402-10603T>G (n.1402-10603T>G) c.1966T>G (p.Ser656Ala) c.2146T>G (p.Ser716Ala) c.1813T>G (p.Ser605Ala) | |
7 | g.117592223T= | CA1737394663 | CFTR | c.2056T= (p.Ser686=) c.*1770T= (n.*1770T=) c.1873T= (p.Ser625=) c.*356T= (n.*356T=) c.*1880T= (n.*1880T=) c.1630T= (p.Ser544=) c.1402-10603T= (n.1402-10603T=) c.1966T= (p.Ser656=) c.2146T= (p.Ser716=) c.1813T= (p.Ser605=) | |
7 | g.117592224del | CA2684619357 | CFTR | c.2057del (p.Ser686PhefsTer?) c.*1771del (n.*1771del) c.1874del (p.Ser625PhefsTer?) c.*357del (n.*357del) c.*1881del (n.*1881del) c.1631del (p.Ser544PhefsTer?) c.1402-10602del (n.1402-10602del) c.1967del (p.Ser656PhefsTer?) c.2147del (p.Ser716PhefsTer?) c.1814del (p.Ser605PhefsTer?) | gnomAD v4 |
7 | g.117592224C>A | CA4451135 | CFTR | c.2057C>A (p.Ser686Tyr) c.*1771C>A (n.*1771C>A) c.1874C>A (p.Ser625Tyr) c.*357C>A (n.*357C>A) c.*1881C>A (n.*1881C>A) c.1631C>A (p.Ser544Tyr) c.1402-10602C>A (n.1402-10602C>A) c.1967C>A (p.Ser656Tyr) c.2147C>A (p.Ser716Tyr) c.1814C>A (p.Ser605Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592224C= | CA1737394669 | CFTR | c.2057C= (p.Ser686=) c.*1771C= (n.*1771C=) c.1874C= (p.Ser625=) c.*357C= (n.*357C=) c.*1881C= (n.*1881C=) c.1631C= (p.Ser544=) c.1402-10602C= (n.1402-10602C=) c.1967C= (p.Ser656=) c.2147C= (p.Ser716=) c.1814C= (p.Ser605=) | |
7 | g.117592224C>G | CA368979475 | CFTR | c.2057C>G (p.Ser686Cys) c.*1771C>G (n.*1771C>G) c.1874C>G (p.Ser625Cys) c.*357C>G (n.*357C>G) c.*1881C>G (n.*1881C>G) c.1631C>G (p.Ser544Cys) c.1402-10602C>G (n.1402-10602C>G) c.1967C>G (p.Ser656Cys) c.2147C>G (p.Ser716Cys) c.1814C>G (p.Ser605Cys) | |
7 | g.117592224C>T | CA368979476 | CFTR | c.2057C>T (p.Ser686Phe) c.*1771C>T (n.*1771C>T) c.1874C>T (p.Ser625Phe) c.*357C>T (n.*357C>T) c.*1881C>T (n.*1881C>T) c.1631C>T (p.Ser544Phe) c.1402-10602C>T (n.1402-10602C>T) c.1967C>T (p.Ser656Phe) c.2147C>T (p.Ser716Phe) c.1814C>T (p.Ser605Phe) | |
7 | g.117592224_117592225delinsA | CA2695208507 | CFTR | c.2057_2058delinsA (p.Ser686TyrfsTer?) c.*1771_*1772delinsA (n.*1771_*1772delinsA) c.1874_1875delinsA (p.Ser625TyrfsTer?) c.*357_*358delinsA (n.*357_*358delinsA) c.*1881_*1882delinsA (n.*1881_*1882delinsA) c.1631_1632delinsA (p.Ser544TyrfsTer?) c.1402-10602_1402-10601delinsA (n.1402-10602_1402-10601delinsA) c.1967_1968delinsA (p.Ser656TyrfsTer?) c.2147_2148delinsA (p.Ser716TyrfsTer?) c.1814_1815delinsA (p.Ser605TyrfsTer?) | |
7 | g.117592224_117592225delinsCT | CA1737394673 | CFTR | c.2057_2058delinsCT (p.Ser686=) c.*1771_*1772delinsCT (n.*1771_*1772delinsCT) c.1874_1875delinsCT (p.Ser625=) c.*357_*358delinsCT (n.*357_*358delinsCT) c.*1881_*1882delinsCT (n.*1881_*1882delinsCT) c.1631_1632delinsCT (p.Ser544=) c.1402-10602_1402-10601delinsCT (n.1402-10602_1402-10601delinsCT) c.1967_1968delinsCT (p.Ser656=) c.2147_2148delinsCT (p.Ser716=) c.1814_1815delinsCT (p.Ser605=) | |
7 | g.117592224_117592225insA | CA2695208509 | CFTR | c.2057_2058insA (p.Lys688Ter) c.*1771_*1772insA (n.*1771_*1772insA) c.1874_1875insA (p.Lys627Ter) c.*357_*358insA (n.*357_*358insA) c.*1881_*1882insA (n.*1881_*1882insA) c.1631_1632insA (p.Lys546Ter) c.1402-10602_1402-10601insA (n.1402-10602_1402-10601insA) c.1967_1968insA (p.Lys658Ter) c.2147_2148insA (p.Lys718Ter) c.1814_1815insA (p.Lys607Ter) | |
7 | g.117592225T>A | CA457449023 | CFTR | c.2058T>A (p.Ser686=) c.*1772T>A (n.*1772T>A) c.1875T>A (p.Ser625=) c.*358T>A (n.*358T>A) c.*1882T>A (n.*1882T>A) c.1632T>A (p.Ser544=) c.1402-10601T>A (n.1402-10601T>A) c.1968T>A (p.Ser656=) c.2148T>A (p.Ser716=) c.1815T>A (p.Ser605=) | gnomAD v4 |
7 | g.117592225T>C | CA457449024 | CFTR | c.2058T>C (p.Ser686=) c.*1772T>C (n.*1772T>C) c.1875T>C (p.Ser625=) c.*358T>C (n.*358T>C) c.*1882T>C (n.*1882T>C) c.1632T>C (p.Ser544=) c.1402-10601T>C (n.1402-10601T>C) c.1968T>C (p.Ser656=) c.2148T>C (p.Ser716=) c.1815T>C (p.Ser605=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592225T>G | CA457449025 | CFTR | c.2058T>G (p.Ser686=) c.*1772T>G (n.*1772T>G) c.1875T>G (p.Ser625=) c.*358T>G (n.*358T>G) c.*1882T>G (n.*1882T>G) c.1632T>G (p.Ser544=) c.1402-10601T>G (n.1402-10601T>G) c.1968T>G (p.Ser656=) c.2148T>G (p.Ser716=) c.1815T>G (p.Ser605=) | ClinVar dbSNP |
7 | g.117592225T= | CA1737394677 | CFTR | c.2058T= (p.Ser686=) c.*1772T= (n.*1772T=) c.1875T= (p.Ser625=) c.*358T= (n.*358T=) c.*1882T= (n.*1882T=) c.1632T= (p.Ser544=) c.1402-10601T= (n.1402-10601T=) c.1968T= (p.Ser656=) c.2148T= (p.Ser716=) c.1815T= (p.Ser605=) | |
7 | g.117592225_117592228del | CA2695208510 | CFTR | c.2058_2061del (p.Phe687AsnfsTer?) c.*1772_*1775del (n.*1772_*1775del) c.1875_1878del (p.Phe626AsnfsTer?) c.*358_*361del (n.*358_*361del) c.*1882_*1885del (n.*1882_*1885del) c.1632_1635del (p.Phe545AsnfsTer?) c.1402-10601_1402-10598del (n.1402-10601_1402-10598del) c.1968_1971del (p.Phe657AsnfsTer?) c.2148_2151del (p.Phe717AsnfsTer?) c.1815_1818del (p.Phe606AsnfsTer?) | |
7 | g.117592225_117592228dup | CA2695208508 | CFTR | c.2058_2061dup (p.Lys688PhefsTer2) c.*1772_*1775dup (n.*1772_*1775dup) c.1875_1878dup (p.Lys627PhefsTer2) c.*358_*361dup (n.*358_*361dup) c.*1882_*1885dup (n.*1882_*1885dup) c.1632_1635dup (p.Lys546PhefsTer2) c.1402-10601_1402-10598dup (n.1402-10601_1402-10598dup) c.1968_1971dup (p.Lys658PhefsTer2) c.2148_2151dup (p.Lys718PhefsTer2) c.1815_1818dup (p.Lys607PhefsTer2) | ClinVar |
7 | g.117592228del | CA577680765 | CFTR | c.2061del (p.Phe687LeufsTer?) c.*1775del (n.*1775del) c.1878del (p.Phe626LeufsTer?) c.*361del (n.*361del) c.*1885del (n.*1885del) c.1635del (p.Phe545LeufsTer?) c.1402-10598del (n.1402-10598del) c.1971del (p.Phe657LeufsTer?) c.2151del (p.Phe717LeufsTer?) c.1818del (p.Phe606LeufsTer?) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592226T>A | CA368979480 | CFTR | c.2059T>A (p.Phe687Ile) c.*1773T>A (n.*1773T>A) c.1876T>A (p.Phe626Ile) c.*359T>A (n.*359T>A) c.*1883T>A (n.*1883T>A) c.1633T>A (p.Phe545Ile) c.1402-10600T>A (n.1402-10600T>A) c.1969T>A (p.Phe657Ile) c.2149T>A (p.Phe717Ile) c.1816T>A (p.Phe606Ile) | |
7 | g.117592226T>C | CA164947754 | CFTR | c.2059T>C (p.Phe687Leu) c.*1773T>C (n.*1773T>C) c.1876T>C (p.Phe626Leu) c.*359T>C (n.*359T>C) c.*1883T>C (n.*1883T>C) c.1633T>C (p.Phe545Leu) c.1402-10600T>C (n.1402-10600T>C) c.1969T>C (p.Phe657Leu) c.2149T>C (p.Phe717Leu) c.1816T>C (p.Phe606Leu) | dbSNP |
7 | g.117592226T>G | CA368979483 | CFTR | c.2059T>G (p.Phe687Val) c.*1773T>G (n.*1773T>G) c.1876T>G (p.Phe626Val) c.*359T>G (n.*359T>G) c.*1883T>G (n.*1883T>G) c.1633T>G (p.Phe545Val) c.1402-10600T>G (n.1402-10600T>G) c.1969T>G (p.Phe657Val) c.2149T>G (p.Phe717Val) c.1816T>G (p.Phe606Val) | |
7 | g.117592226T= | CA1737394681 | CFTR | c.2059T= (p.Phe687=) c.*1773T= (n.*1773T=) c.1876T= (p.Phe626=) c.*359T= (n.*359T=) c.*1883T= (n.*1883T=) c.1633T= (p.Phe545=) c.1402-10600T= (n.1402-10600T=) c.1969T= (p.Phe657=) c.2149T= (p.Phe717=) c.1816T= (p.Phe606=) | |
7 | g.117592227T>A | CA368979487 | CFTR | c.2060T>A (p.Phe687Tyr) c.*1774T>A (n.*1774T>A) c.1877T>A (p.Phe626Tyr) c.*360T>A (n.*360T>A) c.*1884T>A (n.*1884T>A) c.1634T>A (p.Phe545Tyr) c.1402-10599T>A (n.1402-10599T>A) c.1970T>A (p.Phe657Tyr) c.2150T>A (p.Phe717Tyr) c.1817T>A (p.Phe606Tyr) | |
7 | g.117592227T>C | CA368979489 | CFTR | c.2060T>C (p.Phe687Ser) c.*1774T>C (n.*1774T>C) c.1877T>C (p.Phe626Ser) c.*360T>C (n.*360T>C) c.*1884T>C (n.*1884T>C) c.1634T>C (p.Phe545Ser) c.1402-10599T>C (n.1402-10599T>C) c.1970T>C (p.Phe657Ser) c.2150T>C (p.Phe717Ser) c.1817T>C (p.Phe606Ser) | |
7 | g.117592227T>G | CA368979492 | CFTR | c.2060T>G (p.Phe687Cys) c.*1774T>G (n.*1774T>G) c.1877T>G (p.Phe626Cys) c.*360T>G (n.*360T>G) c.*1884T>G (n.*1884T>G) c.1634T>G (p.Phe545Cys) c.1402-10599T>G (n.1402-10599T>G) c.1970T>G (p.Phe657Cys) c.2150T>G (p.Phe717Cys) c.1817T>G (p.Phe606Cys) | |
7 | g.117592228T>A | CA368979494 | CFTR | c.2061T>A (p.Phe687Leu) c.*1775T>A (n.*1775T>A) c.1878T>A (p.Phe626Leu) c.*361T>A (n.*361T>A) c.*1885T>A (n.*1885T>A) c.1635T>A (p.Phe545Leu) c.1402-10598T>A (n.1402-10598T>A) c.1971T>A (p.Phe657Leu) c.2151T>A (p.Phe717Leu) c.1818T>A (p.Phe606Leu) | |
7 | g.117592228T>C | CA457449026 | CFTR | c.2061T>C (p.Phe687=) c.*1775T>C (n.*1775T>C) c.1878T>C (p.Phe626=) c.*361T>C (n.*361T>C) c.*1885T>C (n.*1885T>C) c.1635T>C (p.Phe545=) c.1402-10598T>C (n.1402-10598T>C) c.1971T>C (p.Phe657=) c.2151T>C (p.Phe717=) c.1818T>C (p.Phe606=) | ClinVar |
7 | g.117592228T>G | CA368979497 | CFTR | c.2061T>G (p.Phe687Leu) c.*1775T>G (n.*1775T>G) c.1878T>G (p.Phe626Leu) c.*361T>G (n.*361T>G) c.*1885T>G (n.*1885T>G) c.1635T>G (p.Phe545Leu) c.1402-10598T>G (n.1402-10598T>G) c.1971T>G (p.Phe657Leu) c.2151T>G (p.Phe717Leu) c.1818T>G (p.Phe606Leu) | |
7 | g.117592229A= | CA1737394683 | CFTR | c.2062A= (p.Lys688=) c.*1776A= (n.*1776A=) c.1879A= (p.Lys627=) c.*362A= (n.*362A=) c.*1886A= (n.*1886A=) c.1636A= (p.Lys546=) c.1402-10597A= (n.1402-10597A=) c.1972A= (p.Lys658=) c.2152A= (p.Lys718=) c.1819A= (p.Lys607=) | |
7 | g.117592229A>C | CA368979500 | CFTR | c.2062A>C (p.Lys688Gln) c.*1776A>C (n.*1776A>C) c.1879A>C (p.Lys627Gln) c.*362A>C (n.*362A>C) c.*1886A>C (n.*1886A>C) c.1636A>C (p.Lys546Gln) c.1402-10597A>C (n.1402-10597A>C) c.1972A>C (p.Lys658Gln) c.2152A>C (p.Lys718Gln) c.1819A>C (p.Lys607Gln) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592229A>G | CA368979502 | CFTR | c.2062A>G (p.Lys688Glu) c.*1776A>G (n.*1776A>G) c.1879A>G (p.Lys627Glu) c.*362A>G (n.*362A>G) c.*1886A>G (n.*1886A>G) c.1636A>G (p.Lys546Glu) c.1402-10597A>G (n.1402-10597A>G) c.1972A>G (p.Lys658Glu) c.2152A>G (p.Lys718Glu) c.1819A>G (p.Lys607Glu) | |
7 | g.117592229A>T | CA368979505 | CFTR | c.2062A>T (p.Lys688Ter) c.*1776A>T (n.*1776A>T) c.1879A>T (p.Lys627Ter) c.*362A>T (n.*362A>T) c.*1886A>T (n.*1886A>T) c.1636A>T (p.Lys546Ter) c.1402-10597A>T (n.1402-10597A>T) c.1972A>T (p.Lys658Ter) c.2152A>T (p.Lys718Ter) c.1819A>T (p.Lys607Ter) | |
7 | g.117592229_117592233delinsTTTTTGTTTG | CA2580076517 | CFTR | c.2062_2066delinsTTTTTGTTTG (p.Lys688PhefsTer?) c.*1776_*1780delinsTTTTTGTTTG (n.*1776_*1780delinsTTTTTGTTTG) c.1879_1883delinsTTTTTGTTTG (p.Lys627PhefsTer?) c.*362_*366delinsTTTTTGTTTG (n.*362_*366delinsTTTTTGTTTG) c.*1886_*1890delinsTTTTTGTTTG (n.*1886_*1890delinsTTTTTGTTTG) c.1636_1640delinsTTTTTGTTTG (p.Lys546PhefsTer?) c.1402-10597_1402-10593delinsTTTTTGTTTG (n.1402-10597_1402-10593delinsTTTTTGTTTG) c.1972_1976delinsTTTTTGTTTG (p.Lys658PhefsTer?) c.2152_2156delinsTTTTTGTTTG (p.Lys718PhefsTer?) c.1819_1823delinsTTTTTGTTTG (p.Lys607PhefsTer?) | ClinVar |
7 | g.117592230A>C | CA368979508 | CFTR | c.2063A>C (p.Lys688Thr) c.*1777A>C (n.*1777A>C) c.1880A>C (p.Lys627Thr) c.*363A>C (n.*363A>C) c.*1887A>C (n.*1887A>C) c.1637A>C (p.Lys546Thr) c.1402-10596A>C (n.1402-10596A>C) c.1973A>C (p.Lys658Thr) c.2153A>C (p.Lys718Thr) c.1820A>C (p.Lys607Thr) | |
7 | g.117592230A>G | CA368979509 | CFTR | c.2063A>G (p.Lys688Arg) c.*1777A>G (n.*1777A>G) c.1880A>G (p.Lys627Arg) c.*363A>G (n.*363A>G) c.*1887A>G (n.*1887A>G) c.1637A>G (p.Lys546Arg) c.1402-10596A>G (n.1402-10596A>G) c.1973A>G (p.Lys658Arg) c.2153A>G (p.Lys718Arg) c.1820A>G (p.Lys607Arg) | |
7 | g.117592230A>T | CA368979511 | CFTR | c.2063A>T (p.Lys688Ile) c.*1777A>T (n.*1777A>T) c.1880A>T (p.Lys627Ile) c.*363A>T (n.*363A>T) c.*1887A>T (n.*1887A>T) c.1637A>T (p.Lys546Ile) c.1402-10596A>T (n.1402-10596A>T) c.1973A>T (p.Lys658Ile) c.2153A>T (p.Lys718Ile) c.1820A>T (p.Lys607Ile) | gnomAD v4 |
7 | g.117592231A>C | CA368979514 | CFTR | c.2064A>C (p.Lys688Asn) c.*1778A>C (n.*1778A>C) c.1881A>C (p.Lys627Asn) c.*364A>C (n.*364A>C) c.*1888A>C (n.*1888A>C) c.1638A>C (p.Lys546Asn) c.1402-10595A>C (n.1402-10595A>C) c.1974A>C (p.Lys658Asn) c.2154A>C (p.Lys718Asn) c.1821A>C (p.Lys607Asn) | |
7 | g.117592231A>G | CA457449027 | CFTR | c.2064A>G (p.Lys688=) c.*1778A>G (n.*1778A>G) c.1881A>G (p.Lys627=) c.*364A>G (n.*364A>G) c.*1888A>G (n.*1888A>G) c.1638A>G (p.Lys546=) c.1402-10595A>G (n.1402-10595A>G) c.1974A>G (p.Lys658=) c.2154A>G (p.Lys718=) c.1821A>G (p.Lys607=) | ClinVar |
7 | g.117592231A>T | CA368979517 | CFTR | c.2064A>T (p.Lys688Asn) c.*1778A>T (n.*1778A>T) c.1881A>T (p.Lys627Asn) c.*364A>T (n.*364A>T) c.*1888A>T (n.*1888A>T) c.1638A>T (p.Lys546Asn) c.1402-10595A>T (n.1402-10595A>T) c.1974A>T (p.Lys658Asn) c.2154A>T (p.Lys718Asn) c.1821A>T (p.Lys607Asn) | |
7 | g.117592232C>A | CA368979520 | CFTR | c.2065C>A (p.Gln689Lys) c.*1779C>A (n.*1779C>A) c.1882C>A (p.Gln628Lys) c.*365C>A (n.*365C>A) c.*1889C>A (n.*1889C>A) c.1639C>A (p.Gln547Lys) c.1402-10594C>A (n.1402-10594C>A) c.1975C>A (p.Gln659Lys) c.2155C>A (p.Gln719Lys) c.1822C>A (p.Gln608Lys) | |
7 | g.117592232C= | CA1737394686 | CFTR | c.2065C= (p.Gln689=) c.*1779C= (n.*1779C=) c.1882C= (p.Gln628=) c.*365C= (n.*365C=) c.*1889C= (n.*1889C=) c.1639C= (p.Gln547=) c.1402-10594C= (n.1402-10594C=) c.1975C= (p.Gln659=) c.2155C= (p.Gln719=) c.1822C= (p.Gln608=) | |
7 | g.117592232C>G | CA368979524 | CFTR | c.2065C>G (p.Gln689Glu) c.*1779C>G (n.*1779C>G) c.1882C>G (p.Gln628Glu) c.*365C>G (n.*365C>G) c.*1889C>G (n.*1889C>G) c.1639C>G (p.Gln547Glu) c.1402-10594C>G (n.1402-10594C>G) c.1975C>G (p.Gln659Glu) c.2155C>G (p.Gln719Glu) c.1822C>G (p.Gln608Glu) | |
7 | g.117592232C>T | CA368979522 | CFTR | c.2065C>T (p.Gln689Ter) c.*1779C>T (n.*1779C>T) c.1882C>T (p.Gln628Ter) c.*365C>T (n.*365C>T) c.*1889C>T (n.*1889C>T) c.1639C>T (p.Gln547Ter) c.1402-10594C>T (n.1402-10594C>T) c.1975C>T (p.Gln659Ter) c.2155C>T (p.Gln719Ter) c.1822C>T (p.Gln608Ter) | ClinVar dbSNP |
7 | g.117592233A= | CA1737394687 | CFTR | c.2066A= (p.Gln689=) c.*1780A= (n.*1780A=) c.1883A= (p.Gln628=) c.*366A= (n.*366A=) c.*1890A= (n.*1890A=) c.1640A= (p.Gln547=) c.1402-10593A= (n.1402-10593A=) c.1976A= (p.Gln659=) c.2156A= (p.Gln719=) c.1823A= (p.Gln608=) | |
7 | g.117592233A>C | CA368979527 | CFTR | c.2066A>C (p.Gln689Pro) c.*1780A>C (n.*1780A>C) c.1883A>C (p.Gln628Pro) c.*366A>C (n.*366A>C) c.*1890A>C (n.*1890A>C) c.1640A>C (p.Gln547Pro) c.1402-10593A>C (n.1402-10593A>C) c.1976A>C (p.Gln659Pro) c.2156A>C (p.Gln719Pro) c.1823A>C (p.Gln608Pro) | ClinVar dbSNP |
7 | g.117592233A>G | CA368979528 | CFTR | c.2066A>G (p.Gln689Arg) c.*1780A>G (n.*1780A>G) c.1883A>G (p.Gln628Arg) c.*366A>G (n.*366A>G) c.*1890A>G (n.*1890A>G) c.1640A>G (p.Gln547Arg) c.1402-10593A>G (n.1402-10593A>G) c.1976A>G (p.Gln659Arg) c.2156A>G (p.Gln719Arg) c.1823A>G (p.Gln608Arg) | gnomAD v4 |
7 | g.117592233A>T | CA368979531 | CFTR | c.2066A>T (p.Gln689Leu) c.*1780A>T (n.*1780A>T) c.1883A>T (p.Gln628Leu) c.*366A>T (n.*366A>T) c.*1890A>T (n.*1890A>T) c.1640A>T (p.Gln547Leu) c.1402-10593A>T (n.1402-10593A>T) c.1976A>T (p.Gln659Leu) c.2156A>T (p.Gln719Leu) c.1823A>T (p.Gln608Leu) | |
7 | g.117592234G>A | CA457449028 | CFTR | c.2067G>A (p.Gln689=) c.*1781G>A (n.*1781G>A) c.1884G>A (p.Gln628=) c.*367G>A (n.*367G>A) c.*1891G>A (n.*1891G>A) c.1641G>A (p.Gln547=) c.1402-10592G>A (n.1402-10592G>A) c.1977G>A (p.Gln659=) c.2157G>A (p.Gln719=) c.1824G>A (p.Gln608=) | ClinVar gnomAD v4 COSMIC |
7 | g.117592234G>C | CA368979533 | CFTR | c.2067G>C (p.Gln689His) c.*1781G>C (n.*1781G>C) c.1884G>C (p.Gln628His) c.*367G>C (n.*367G>C) c.*1891G>C (n.*1891G>C) c.1641G>C (p.Gln547His) c.1402-10592G>C (n.1402-10592G>C) c.1977G>C (p.Gln659His) c.2157G>C (p.Gln719His) c.1824G>C (p.Gln608His) | |
7 | g.117592234G>T | CA368979535 | CFTR | c.2067G>T (p.Gln689His) c.*1781G>T (n.*1781G>T) c.1884G>T (p.Gln628His) c.*367G>T (n.*367G>T) c.*1891G>T (n.*1891G>T) c.1641G>T (p.Gln547His) c.1402-10592G>T (n.1402-10592G>T) c.1977G>T (p.Gln659His) c.2157G>T (p.Gln719His) c.1824G>T (p.Gln608His) | |
7 | g.117592235A= | CA1737394688 | CFTR | c.2068A= (p.Thr690=) c.*1782A= (n.*1782A=) c.1885A= (p.Thr629=) c.*368A= (n.*368A=) c.*1892A= (n.*1892A=) c.1642A= (p.Thr548=) c.1402-10591A= (n.1402-10591A=) c.1978A= (p.Thr660=) c.2158A= (p.Thr720=) c.1825A= (p.Thr609=) | |
7 | g.117592235A>C | CA368979539 | CFTR | c.2068A>C (p.Thr690Pro) c.*1782A>C (n.*1782A>C) c.1885A>C (p.Thr629Pro) c.*368A>C (n.*368A>C) c.*1892A>C (n.*1892A>C) c.1642A>C (p.Thr548Pro) c.1402-10591A>C (n.1402-10591A>C) c.1978A>C (p.Thr660Pro) c.2158A>C (p.Thr720Pro) c.1825A>C (p.Thr609Pro) | |
7 | g.117592235A>G | CA4451136 | CFTR | c.2068A>G (p.Thr690Ala) c.*1782A>G (n.*1782A>G) c.1885A>G (p.Thr629Ala) c.*368A>G (n.*368A>G) c.*1892A>G (n.*1892A>G) c.1642A>G (p.Thr548Ala) c.1402-10591A>G (n.1402-10591A>G) c.1978A>G (p.Thr660Ala) c.2158A>G (p.Thr720Ala) c.1825A>G (p.Thr609Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592235A>T | CA368979542 | CFTR | c.2068A>T (p.Thr690Ser) c.*1782A>T (n.*1782A>T) c.1885A>T (p.Thr629Ser) c.*368A>T (n.*368A>T) c.*1892A>T (n.*1892A>T) c.1642A>T (p.Thr548Ser) c.1402-10591A>T (n.1402-10591A>T) c.1978A>T (p.Thr660Ser) c.2158A>T (p.Thr720Ser) c.1825A>T (p.Thr609Ser) | |
7 | g.117592236C>A | CA368979546 | CFTR | c.2069C>A (p.Thr690Asn) c.*1783C>A (n.*1783C>A) c.1886C>A (p.Thr629Asn) c.*369C>A (n.*369C>A) c.*1893C>A (n.*1893C>A) c.1643C>A (p.Thr548Asn) c.1402-10590C>A (n.1402-10590C>A) c.1979C>A (p.Thr660Asn) c.2159C>A (p.Thr720Asn) c.1826C>A (p.Thr609Asn) | |
7 | g.117592236C>G | CA368979548 | CFTR | c.2069C>G (p.Thr690Ser) c.*1783C>G (n.*1783C>G) c.1886C>G (p.Thr629Ser) c.*369C>G (n.*369C>G) c.*1893C>G (n.*1893C>G) c.1643C>G (p.Thr548Ser) c.1402-10590C>G (n.1402-10590C>G) c.1979C>G (p.Thr660Ser) c.2159C>G (p.Thr720Ser) c.1826C>G (p.Thr609Ser) | |
7 | g.117592236C>T | CA368979551 | CFTR | c.2069C>T (p.Thr690Ile) c.*1783C>T (n.*1783C>T) c.1886C>T (p.Thr629Ile) c.*369C>T (n.*369C>T) c.*1893C>T (n.*1893C>T) c.1643C>T (p.Thr548Ile) c.1402-10590C>T (n.1402-10590C>T) c.1979C>T (p.Thr660Ile) c.2159C>T (p.Thr720Ile) c.1826C>T (p.Thr609Ile) | |
7 | g.117592237T>A | CA457449029 | CFTR | c.2070T>A (p.Thr690=) c.*1784T>A (n.*1784T>A) c.1887T>A (p.Thr629=) c.*370T>A (n.*370T>A) c.*1894T>A (n.*1894T>A) c.1644T>A (p.Thr548=) c.1402-10589T>A (n.1402-10589T>A) c.1980T>A (p.Thr660=) c.2160T>A (p.Thr720=) c.1827T>A (p.Thr609=) | |
7 | g.117592237T>C | CA457449031 | CFTR | c.2070T>C (p.Thr690=) c.*1784T>C (n.*1784T>C) c.1887T>C (p.Thr629=) c.*370T>C (n.*370T>C) c.*1894T>C (n.*1894T>C) c.1644T>C (p.Thr548=) c.1402-10589T>C (n.1402-10589T>C) c.1980T>C (p.Thr660=) c.2160T>C (p.Thr720=) c.1827T>C (p.Thr609=) | ClinVar gnomAD v4 |
7 | g.117592237T>G | CA457449030 | CFTR | c.2070T>G (p.Thr690=) c.*1784T>G (n.*1784T>G) c.1887T>G (p.Thr629=) c.*370T>G (n.*370T>G) c.*1894T>G (n.*1894T>G) c.1644T>G (p.Thr548=) c.1402-10589T>G (n.1402-10589T>G) c.1980T>G (p.Thr660=) c.2160T>G (p.Thr720=) c.1827T>G (p.Thr609=) | gnomAD v4 |
7 | g.117592238G>A | CA368979554 | CFTR | c.2071G>A (p.Gly691Arg) c.*1785G>A (n.*1785G>A) c.1888G>A (p.Gly630Arg) c.*371G>A (n.*371G>A) c.*1895G>A (n.*1895G>A) c.1645G>A (p.Gly549Arg) c.1402-10588G>A (n.1402-10588G>A) c.1981G>A (p.Gly661Arg) c.2161G>A (p.Gly721Arg) c.1828G>A (p.Gly610Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592238G>C | CA368979556 | CFTR | c.2071G>C (p.Gly691Arg) c.*1785G>C (n.*1785G>C) c.1888G>C (p.Gly630Arg) c.*371G>C (n.*371G>C) c.*1895G>C (n.*1895G>C) c.1645G>C (p.Gly549Arg) c.1402-10588G>C (n.1402-10588G>C) c.1981G>C (p.Gly661Arg) c.2161G>C (p.Gly721Arg) c.1828G>C (p.Gly610Arg) | |
7 | g.117592238G= | CA1737394689 | CFTR | c.2071G= (p.Gly691=) c.*1785G= (n.*1785G=) c.1888G= (p.Gly630=) c.*371G= (n.*371G=) c.*1895G= (n.*1895G=) c.1645G= (p.Gly549=) c.1402-10588G= (n.1402-10588G=) c.1981G= (p.Gly661=) c.2161G= (p.Gly721=) c.1828G= (p.Gly610=) | |
7 | g.117592238G>T | CA368979558 | CFTR | c.2071G>T (p.Gly691Ter) c.*1785G>T (n.*1785G>T) c.1888G>T (p.Gly630Ter) c.*371G>T (n.*371G>T) c.*1895G>T (n.*1895G>T) c.1645G>T (p.Gly549Ter) c.1402-10588G>T (n.1402-10588G>T) c.1981G>T (p.Gly661Ter) c.2161G>T (p.Gly721Ter) c.1828G>T (p.Gly610Ter) | |
7 | g.117592239G>A | CA368979560 | CFTR | c.2072G>A (p.Gly691Glu) c.*1786G>A (n.*1786G>A) c.1889G>A (p.Gly630Glu) c.*372G>A (n.*372G>A) c.*1896G>A (n.*1896G>A) c.1646G>A (p.Gly549Glu) c.1402-10587G>A (n.1402-10587G>A) c.1982G>A (p.Gly661Glu) c.2162G>A (p.Gly721Glu) c.1829G>A (p.Gly610Glu) | dbSNP |
7 | g.117592239G>C | CA368979561 | CFTR | c.2072G>C (p.Gly691Ala) c.*1786G>C (n.*1786G>C) c.1889G>C (p.Gly630Ala) c.*372G>C (n.*372G>C) c.*1896G>C (n.*1896G>C) c.1646G>C (p.Gly549Ala) c.1402-10587G>C (n.1402-10587G>C) c.1982G>C (p.Gly661Ala) c.2162G>C (p.Gly721Ala) c.1829G>C (p.Gly610Ala) | |
7 | g.117592239G= | CA1737394690 | CFTR | c.2072G= (p.Gly691=) c.*1786G= (n.*1786G=) c.1889G= (p.Gly630=) c.*372G= (n.*372G=) c.*1896G= (n.*1896G=) c.1646G= (p.Gly549=) c.1402-10587G= (n.1402-10587G=) c.1982G= (p.Gly661=) c.2162G= (p.Gly721=) c.1829G= (p.Gly610=) | |
7 | g.117592239G>T | CA368979562 | CFTR | c.2072G>T (p.Gly691Val) c.*1786G>T (n.*1786G>T) c.1889G>T (p.Gly630Val) c.*372G>T (n.*372G>T) c.*1896G>T (n.*1896G>T) c.1646G>T (p.Gly549Val) c.1402-10587G>T (n.1402-10587G>T) c.1982G>T (p.Gly661Val) c.2162G>T (p.Gly721Val) c.1829G>T (p.Gly610Val) | ClinVar gnomAD v4 |
7 | g.117592240A>C | CA457449032 | CFTR | c.2073A>C (p.Gly691=) c.*1787A>C (n.*1787A>C) c.1890A>C (p.Gly630=) c.*373A>C (n.*373A>C) c.*1897A>C (n.*1897A>C) c.1647A>C (p.Gly549=) c.1402-10586A>C (n.1402-10586A>C) c.1983A>C (p.Gly661=) c.2163A>C (p.Gly721=) c.1830A>C (p.Gly610=) | |
7 | g.117592240A>G | CA457449033 | CFTR | c.2073A>G (p.Gly691=) c.*1787A>G (n.*1787A>G) c.1890A>G (p.Gly630=) c.*373A>G (n.*373A>G) c.*1897A>G (n.*1897A>G) c.1647A>G (p.Gly549=) c.1402-10586A>G (n.1402-10586A>G) c.1983A>G (p.Gly661=) c.2163A>G (p.Gly721=) c.1830A>G (p.Gly610=) | |
7 | g.117592240A>T | CA457449034 | CFTR | c.2073A>T (p.Gly691=) c.*1787A>T (n.*1787A>T) c.1890A>T (p.Gly630=) c.*373A>T (n.*373A>T) c.*1897A>T (n.*1897A>T) c.1647A>T (p.Gly549=) c.1402-10586A>T (n.1402-10586A>T) c.1983A>T (p.Gly661=) c.2163A>T (p.Gly721=) c.1830A>T (p.Gly610=) | COSMIC |
7 | g.117592241G>A | CA368979563 | CFTR | c.2074G>A (p.Glu692Lys) c.*1788G>A (n.*1788G>A) c.1891G>A (p.Glu631Lys) c.*374G>A (n.*374G>A) c.*1898G>A (n.*1898G>A) c.1648G>A (p.Glu550Lys) c.1402-10585G>A (n.1402-10585G>A) c.1984G>A (p.Glu662Lys) c.2164G>A (p.Glu722Lys) c.1831G>A (p.Glu611Lys) | |
7 | g.117592241G>C | CA368979564 | CFTR | c.2074G>C (p.Glu692Gln) c.*1788G>C (n.*1788G>C) c.1891G>C (p.Glu631Gln) c.*374G>C (n.*374G>C) c.*1898G>C (n.*1898G>C) c.1648G>C (p.Glu550Gln) c.1402-10585G>C (n.1402-10585G>C) c.1984G>C (p.Glu662Gln) c.2164G>C (p.Glu722Gln) c.1831G>C (p.Glu611Gln) | ClinVar |
7 | g.117592241G= | CA1737394691 | CFTR | c.2074G= (p.Glu692=) c.*1788G= (n.*1788G=) c.1891G= (p.Glu631=) c.*374G= (n.*374G=) c.*1898G= (n.*1898G=) c.1648G= (p.Glu550=) c.1402-10585G= (n.1402-10585G=) c.1984G= (p.Glu662=) c.2164G= (p.Glu722=) c.1831G= (p.Glu611=) | |
7 | g.117592241G>T | CA326742 | CFTR | c.2074G>T (p.Glu692Ter) c.*1788G>T (n.*1788G>T) c.1891G>T (p.Glu631Ter) c.*374G>T (n.*374G>T) c.*1898G>T (n.*1898G>T) c.1648G>T (p.Glu550Ter) c.1402-10585G>T (n.1402-10585G>T) c.1984G>T (p.Glu662Ter) c.2164G>T (p.Glu722Ter) c.1831G>T (p.Glu611Ter) | ClinVar dbSNP |
7 | g.117592242A= | CA1737394693 | CFTR | c.2075A= (p.Glu692=) c.*1789A= (n.*1789A=) c.1892A= (p.Glu631=) c.*375A= (n.*375A=) c.*1899A= (n.*1899A=) c.1649A= (p.Glu550=) c.1402-10584A= (n.1402-10584A=) c.1985A= (p.Glu662=) c.2165A= (p.Glu722=) c.1832A= (p.Glu611=) | |
7 | g.117592242A>C | CA368979567 | CFTR | c.2075A>C (p.Glu692Ala) c.*1789A>C (n.*1789A>C) c.1892A>C (p.Glu631Ala) c.*375A>C (n.*375A>C) c.*1899A>C (n.*1899A>C) c.1649A>C (p.Glu550Ala) c.1402-10584A>C (n.1402-10584A>C) c.1985A>C (p.Glu662Ala) c.2165A>C (p.Glu722Ala) c.1832A>C (p.Glu611Ala) | |
7 | g.117592242A>G | CA368979565 | CFTR | c.2075A>G (p.Glu692Gly) c.*1789A>G (n.*1789A>G) c.1892A>G (p.Glu631Gly) c.*375A>G (n.*375A>G) c.*1899A>G (n.*1899A>G) c.1649A>G (p.Glu550Gly) c.1402-10584A>G (n.1402-10584A>G) c.1985A>G (p.Glu662Gly) c.2165A>G (p.Glu722Gly) c.1832A>G (p.Glu611Gly) | dbSNP |
7 | g.117592242A>T | CA368979566 | CFTR | c.2075A>T (p.Glu692Val) c.*1789A>T (n.*1789A>T) c.1892A>T (p.Glu631Val) c.*375A>T (n.*375A>T) c.*1899A>T (n.*1899A>T) c.1649A>T (p.Glu550Val) c.1402-10584A>T (n.1402-10584A>T) c.1985A>T (p.Glu662Val) c.2165A>T (p.Glu722Val) c.1832A>T (p.Glu611Val) | ClinVar |
7 | g.117592243G>A | CA457449035 | CFTR | c.2076G>A (p.Glu692=) c.*1790G>A (n.*1790G>A) c.1893G>A (p.Glu631=) c.*376G>A (n.*376G>A) c.*1900G>A (n.*1900G>A) c.1650G>A (p.Glu550=) c.1402-10583G>A (n.1402-10583G>A) c.1986G>A (p.Glu662=) c.2166G>A (p.Glu722=) c.1833G>A (p.Glu611=) | ClinVar |
7 | g.117592243G>C | CA368979568 | CFTR | c.2076G>C (p.Glu692Asp) c.*1790G>C (n.*1790G>C) c.1893G>C (p.Glu631Asp) c.*376G>C (n.*376G>C) c.*1900G>C (n.*1900G>C) c.1650G>C (p.Glu550Asp) c.1402-10583G>C (n.1402-10583G>C) c.1986G>C (p.Glu662Asp) c.2166G>C (p.Glu722Asp) c.1833G>C (p.Glu611Asp) | ClinVar |
7 | g.117592243G>T | CA368979569 | CFTR | c.2076G>T (p.Glu692Asp) c.*1790G>T (n.*1790G>T) c.1893G>T (p.Glu631Asp) c.*376G>T (n.*376G>T) c.*1900G>T (n.*1900G>T) c.1650G>T (p.Glu550Asp) c.1402-10583G>T (n.1402-10583G>T) c.1986G>T (p.Glu662Asp) c.2166G>T (p.Glu722Asp) c.1833G>T (p.Glu611Asp) | |
7 | g.117592243_117592245delinsGTT | CA1737394694 | CFTR | c.2076_2078delinsGTT (p.Glu692=) c.*1790_*1792delinsGTT (n.*1790_*1792delinsGTT) c.1893_1895delinsGTT (p.Glu631=) c.*376_*378delinsGTT (n.*376_*378delinsGTT) c.*1900_*1902delinsGTT (n.*1900_*1902delinsGTT) c.1650_1652delinsGTT (p.Glu550=) c.1402-10583_1402-10581delinsGTT (n.1402-10583_1402-10581delinsGTT) c.1986_1988delinsGTT (p.Glu662=) c.2166_2168delinsGTT (p.Glu722=) c.1833_1835delinsGTT (p.Glu611=) | |
7 | g.117592244T>A | CA368979570 | CFTR | c.2077T>A (p.Phe693Ile) c.*1791T>A (n.*1791T>A) c.1894T>A (p.Phe632Ile) c.*377T>A (n.*377T>A) c.*1901T>A (n.*1901T>A) c.1651T>A (p.Phe551Ile) c.1402-10582T>A (n.1402-10582T>A) c.1987T>A (p.Phe663Ile) c.2167T>A (p.Phe723Ile) c.1834T>A (p.Phe612Ile) | |
7 | g.117592244T>C | CA326744 | CFTR | c.2077T>C (p.Phe693Leu) c.*1791T>C (n.*1791T>C) c.1894T>C (p.Phe632Leu) c.*377T>C (n.*377T>C) c.*1901T>C (n.*1901T>C) c.1651T>C (p.Phe551Leu) c.1402-10582T>C (n.1402-10582T>C) c.1987T>C (p.Phe663Leu) c.2167T>C (p.Phe723Leu) c.1834T>C (p.Phe612Leu) | ClinVar dbSNP |
7 | g.117592244T>G | CA368979572 | CFTR | c.2077T>G (p.Phe693Val) c.*1791T>G (n.*1791T>G) c.1894T>G (p.Phe632Val) c.*377T>G (n.*377T>G) c.*1901T>G (n.*1901T>G) c.1651T>G (p.Phe551Val) c.1402-10582T>G (n.1402-10582T>G) c.1987T>G (p.Phe663Val) c.2167T>G (p.Phe723Val) c.1834T>G (p.Phe612Val) | |
7 | g.117592244T= | CA1737394698 | CFTR | c.2077T= (p.Phe693=) c.*1791T= (n.*1791T=) c.1894T= (p.Phe632=) c.*377T= (n.*377T=) c.*1901T= (n.*1901T=) c.1651T= (p.Phe551=) c.1402-10582T= (n.1402-10582T=) c.1987T= (p.Phe663=) c.2167T= (p.Phe723=) c.1834T= (p.Phe612=) | |
7 | g.117592245_117592246del | CA4451137 | CFTR | c.2078_2079del (p.Phe693TrpfsTer?) c.*1792_*1793del (n.*1792_*1793del) c.1895_1896del (p.Phe632TrpfsTer?) c.*378_*379del (n.*378_*379del) c.*1902_*1903del (n.*1902_*1903del) c.1652_1653del (p.Phe551TrpfsTer?) c.1402-10581_1402-10580del (n.1402-10581_1402-10580del) c.1988_1989del (p.Phe663TrpfsTer?) c.2168_2169del (p.Phe723TrpfsTer?) c.1835_1836del (p.Phe612TrpfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592245T>A | CA368979580 | CFTR | c.2078T>A (p.Phe693Tyr) c.*1792T>A (n.*1792T>A) c.1895T>A (p.Phe632Tyr) c.*378T>A (n.*378T>A) c.*1902T>A (n.*1902T>A) c.1652T>A (p.Phe551Tyr) c.1402-10581T>A (n.1402-10581T>A) c.1988T>A (p.Phe663Tyr) c.2168T>A (p.Phe723Tyr) c.1835T>A (p.Phe612Tyr) | gnomAD v4 |
7 | g.117592245T>C | CA368979579 | CFTR | c.2078T>C (p.Phe693Ser) c.*1792T>C (n.*1792T>C) c.1895T>C (p.Phe632Ser) c.*378T>C (n.*378T>C) c.*1902T>C (n.*1902T>C) c.1652T>C (p.Phe551Ser) c.1402-10581T>C (n.1402-10581T>C) c.1988T>C (p.Phe663Ser) c.2168T>C (p.Phe723Ser) c.1835T>C (p.Phe612Ser) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592245T>G | CA368979576 | CFTR | c.2078T>G (p.Phe693Cys) c.*1792T>G (n.*1792T>G) c.1895T>G (p.Phe632Cys) c.*378T>G (n.*378T>G) c.*1902T>G (n.*1902T>G) c.1652T>G (p.Phe551Cys) c.1402-10581T>G (n.1402-10581T>G) c.1988T>G (p.Phe663Cys) c.2168T>G (p.Phe723Cys) c.1835T>G (p.Phe612Cys) | |
7 | g.117592245T= | CA1737394701 | CFTR | c.2078T= (p.Phe693=) c.*1792T= (n.*1792T=) c.1895T= (p.Phe632=) c.*378T= (n.*378T=) c.*1902T= (n.*1902T=) c.1652T= (p.Phe551=) c.1402-10581T= (n.1402-10581T=) c.1988T= (p.Phe663=) c.2168T= (p.Phe723=) c.1835T= (p.Phe612=) | |
7 | g.117592246T>A | CA368979583 | CFTR | c.2079T>A (p.Phe693Leu) c.*1793T>A (n.*1793T>A) c.1896T>A (p.Phe632Leu) c.*379T>A (n.*379T>A) c.*1903T>A (n.*1903T>A) c.1653T>A (p.Phe551Leu) c.1402-10580T>A (n.1402-10580T>A) c.1989T>A (p.Phe663Leu) c.2169T>A (p.Phe723Leu) c.1836T>A (p.Phe612Leu) | |
7 | g.117592246T>C | CA457449036 | CFTR | c.2079T>C (p.Phe693=) c.*1793T>C (n.*1793T>C) c.1896T>C (p.Phe632=) c.*379T>C (n.*379T>C) c.*1903T>C (n.*1903T>C) c.1653T>C (p.Phe551=) c.1402-10580T>C (n.1402-10580T>C) c.1989T>C (p.Phe663=) c.2169T>C (p.Phe723=) c.1836T>C (p.Phe612=) | |
7 | g.117592246T>G | CA240239 | CFTR | c.2079T>G (p.Phe693Leu) c.*1793T>G (n.*1793T>G) c.1896T>G (p.Phe632Leu) c.*379T>G (n.*379T>G) c.*1903T>G (n.*1903T>G) c.1653T>G (p.Phe551Leu) c.1402-10580T>G (n.1402-10580T>G) c.1989T>G (p.Phe663Leu) c.2169T>G (p.Phe723Leu) c.1836T>G (p.Phe612Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592246T= | CA1737394707 | CFTR | c.2079T= (p.Phe693=) c.*1793T= (n.*1793T=) c.1896T= (p.Phe632=) c.*379T= (n.*379T=) c.*1903T= (n.*1903T=) c.1653T= (p.Phe551=) c.1402-10580T= (n.1402-10580T=) c.1989T= (p.Phe663=) c.2169T= (p.Phe723=) c.1836T= (p.Phe612=) | |
7 | g.117592247G>A | CA368979589 | CFTR | c.2080G>A (p.Gly694Arg) c.*1794G>A (n.*1794G>A) c.1897G>A (p.Gly633Arg) c.*380G>A (n.*380G>A) c.*1904G>A (n.*1904G>A) c.1654G>A (p.Gly552Arg) c.1402-10579G>A (n.1402-10579G>A) c.1990G>A (p.Gly664Arg) c.2170G>A (p.Gly724Arg) c.1837G>A (p.Gly613Arg) | COSMIC |
7 | g.117592247G>C | CA368979591 | CFTR | c.2080G>C (p.Gly694Arg) c.*1794G>C (n.*1794G>C) c.1897G>C (p.Gly633Arg) c.*380G>C (n.*380G>C) c.*1904G>C (n.*1904G>C) c.1654G>C (p.Gly552Arg) c.1402-10579G>C (n.1402-10579G>C) c.1990G>C (p.Gly664Arg) c.2170G>C (p.Gly724Arg) c.1837G>C (p.Gly613Arg) | |
7 | g.117592247G>T | CA368979593 | CFTR | c.2080G>T (p.Gly694Trp) c.*1794G>T (n.*1794G>T) c.1897G>T (p.Gly633Trp) c.*380G>T (n.*380G>T) c.*1904G>T (n.*1904G>T) c.1654G>T (p.Gly552Trp) c.1402-10579G>T (n.1402-10579G>T) c.1990G>T (p.Gly664Trp) c.2170G>T (p.Gly724Trp) c.1837G>T (p.Gly613Trp) | |
7 | g.117592250dup | CA326745 | CFTR | c.2083dup (p.Glu695GlyfsTer?) c.*1797dup (n.*1797dup) c.1900dup (p.Glu634GlyfsTer?) c.*383dup (n.*383dup) c.*1907dup (n.*1907dup) c.1657dup (p.Glu553GlyfsTer?) c.1402-10576dup (n.1402-10576dup) c.1993dup (p.Glu665GlyfsTer?) c.2173dup (p.Glu725GlyfsTer?) c.1840dup (p.Glu614GlyfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592250del | CA2579000098 | CFTR | c.2083del (p.Glu695LysfsTer27) c.*1797del (n.*1797del) c.1900del (p.Glu634LysfsTer27) c.*383del (n.*383del) c.*1907del (n.*1907del) c.1657del (p.Glu553LysfsTer27) c.1402-10576del (n.1402-10576del) c.1993del (p.Glu665LysfsTer27) c.2173del (p.Glu725LysfsTer27) c.1840del (p.Glu614LysfsTer27) | gnomAD v4 |
7 | g.117592248G>A | CA368979596 | CFTR | c.2081G>A (p.Gly694Glu) c.*1795G>A (n.*1795G>A) c.1898G>A (p.Gly633Glu) c.*381G>A (n.*381G>A) c.*1905G>A (n.*1905G>A) c.1655G>A (p.Gly552Glu) c.1402-10578G>A (n.1402-10578G>A) c.1991G>A (p.Gly664Glu) c.2171G>A (p.Gly724Glu) c.1838G>A (p.Gly613Glu) | COSMIC |
7 | g.117592248G>C | CA368979600 | CFTR | c.2081G>C (p.Gly694Ala) c.*1795G>C (n.*1795G>C) c.1898G>C (p.Gly633Ala) c.*381G>C (n.*381G>C) c.*1905G>C (n.*1905G>C) c.1655G>C (p.Gly552Ala) c.1402-10578G>C (n.1402-10578G>C) c.1991G>C (p.Gly664Ala) c.2171G>C (p.Gly724Ala) c.1838G>C (p.Gly613Ala) | |
7 | g.117592248G>T | CA368979598 | CFTR | c.2081G>T (p.Gly694Val) c.*1795G>T (n.*1795G>T) c.1898G>T (p.Gly633Val) c.*381G>T (n.*381G>T) c.*1905G>T (n.*1905G>T) c.1655G>T (p.Gly552Val) c.1402-10578G>T (n.1402-10578G>T) c.1991G>T (p.Gly664Val) c.2171G>T (p.Gly724Val) c.1838G>T (p.Gly613Val) | |
7 | g.117592249G>A | CA457449037 | CFTR | c.2082G>A (p.Gly694=) c.*1796G>A (n.*1796G>A) c.1899G>A (p.Gly633=) c.*382G>A (n.*382G>A) c.*1906G>A (n.*1906G>A) c.1656G>A (p.Gly552=) c.1402-10577G>A (n.1402-10577G>A) c.1992G>A (p.Gly664=) c.2172G>A (p.Gly724=) c.1839G>A (p.Gly613=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592249G>C | CA457449038 | CFTR | c.2082G>C (p.Gly694=) c.*1796G>C (n.*1796G>C) c.1899G>C (p.Gly633=) c.*382G>C (n.*382G>C) c.*1906G>C (n.*1906G>C) c.1656G>C (p.Gly552=) c.1402-10577G>C (n.1402-10577G>C) c.1992G>C (p.Gly664=) c.2172G>C (p.Gly724=) c.1839G>C (p.Gly613=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592249G= | CA1737394721 | CFTR | c.2082G= (p.Gly694=) c.*1796G= (n.*1796G=) c.1899G= (p.Gly633=) c.*382G= (n.*382G=) c.*1906G= (n.*1906G=) c.1656G= (p.Gly552=) c.1402-10577G= (n.1402-10577G=) c.1992G= (p.Gly664=) c.2172G= (p.Gly724=) c.1839G= (p.Gly613=) | |
7 | g.117592249G>T | CA457449039 | CFTR | c.2082G>T (p.Gly694=) c.*1796G>T (n.*1796G>T) c.1899G>T (p.Gly633=) c.*382G>T (n.*382G>T) c.*1906G>T (n.*1906G>T) c.1656G>T (p.Gly552=) c.1402-10577G>T (n.1402-10577G>T) c.1992G>T (p.Gly664=) c.2172G>T (p.Gly724=) c.1839G>T (p.Gly613=) | |
7 | g.117592250G>A | CA368979603 | CFTR | c.2083G>A (p.Glu695Lys) c.*1797G>A (n.*1797G>A) c.1900G>A (p.Glu634Lys) c.*383G>A (n.*383G>A) c.*1907G>A (n.*1907G>A) c.1657G>A (p.Glu553Lys) c.1402-10576G>A (n.1402-10576G>A) c.1993G>A (p.Glu665Lys) c.2173G>A (p.Glu725Lys) c.1840G>A (p.Glu614Lys) | ClinVar |
7 | g.117592250G>C | CA368979605 | CFTR | c.2083G>C (p.Glu695Gln) c.*1797G>C (n.*1797G>C) c.1900G>C (p.Glu634Gln) c.*383G>C (n.*383G>C) c.*1907G>C (n.*1907G>C) c.1657G>C (p.Glu553Gln) c.1402-10576G>C (n.1402-10576G>C) c.1993G>C (p.Glu665Gln) c.2173G>C (p.Glu725Gln) c.1840G>C (p.Glu614Gln) | |
7 | g.117592250G>T | CA368979607 | CFTR | c.2083G>T (p.Glu695Ter) c.*1797G>T (n.*1797G>T) c.1900G>T (p.Glu634Ter) c.*383G>T (n.*383G>T) c.*1907G>T (n.*1907G>T) c.1657G>T (p.Glu553Ter) c.1402-10576G>T (n.1402-10576G>T) c.1993G>T (p.Glu665Ter) c.2173G>T (p.Glu725Ter) c.1840G>T (p.Glu614Ter) | |
7 | g.117592250_117592251delinsGA | CA1737394725 | CFTR | c.2083_2084delinsGA (p.Glu695=) c.*1797_*1798delinsGA (n.*1797_*1798delinsGA) c.1900_1901delinsGA (p.Glu634=) c.*383_*384delinsGA (n.*383_*384delinsGA) c.*1907_*1908delinsGA (n.*1907_*1908delinsGA) c.1657_1658delinsGA (p.Glu553=) c.1402-10576_1402-10575delinsGA (n.1402-10576_1402-10575delinsGA) c.1993_1994delinsGA (p.Glu665=) c.2173_2174delinsGA (p.Glu725=) c.1840_1841delinsGA (p.Glu614=) | |
7 | g.117592251A= | CA1737394734 | CFTR | c.2084A= (p.Glu695=) c.*1798A= (n.*1798A=) c.1901A= (p.Glu634=) c.*384A= (n.*384A=) c.*1908A= (n.*1908A=) c.1658A= (p.Glu553=) c.1402-10575A= (n.1402-10575A=) c.1994A= (p.Glu665=) c.2174A= (p.Glu725=) c.1841A= (p.Glu614=) | |
7 | g.117592251A>C | CA368979611 | CFTR | c.2084A>C (p.Glu695Ala) c.*1798A>C (n.*1798A>C) c.1901A>C (p.Glu634Ala) c.*384A>C (n.*384A>C) c.*1908A>C (n.*1908A>C) c.1658A>C (p.Glu553Ala) c.1402-10575A>C (n.1402-10575A>C) c.1994A>C (p.Glu665Ala) c.2174A>C (p.Glu725Ala) c.1841A>C (p.Glu614Ala) | |
7 | g.117592251A>G | CA4451138 | CFTR | c.2084A>G (p.Glu695Gly) c.*1798A>G (n.*1798A>G) c.1901A>G (p.Glu634Gly) c.*384A>G (n.*384A>G) c.*1908A>G (n.*1908A>G) c.1658A>G (p.Glu553Gly) c.1402-10575A>G (n.1402-10575A>G) c.1994A>G (p.Glu665Gly) c.2174A>G (p.Glu725Gly) c.1841A>G (p.Glu614Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.117592251A>T | CA368979613 | CFTR | c.2084A>T (p.Glu695Val) c.*1798A>T (n.*1798A>T) c.1901A>T (p.Glu634Val) c.*384A>T (n.*384A>T) c.*1908A>T (n.*1908A>T) c.1658A>T (p.Glu553Val) c.1402-10575A>T (n.1402-10575A>T) c.1994A>T (p.Glu665Val) c.2174A>T (p.Glu725Val) c.1841A>T (p.Glu614Val) | |
7 | g.117592256dup | CA326748 | CFTR | c.2089dup (p.Arg697LysfsTer?) c.*1803dup (n.*1803dup) c.1906dup (p.Arg636LysfsTer?) c.*389dup (n.*389dup) c.*1913dup (n.*1913dup) c.1663dup (p.Arg555LysfsTer?) c.1402-10570dup (n.1402-10570dup) c.1999dup (p.Arg667LysfsTer?) c.2179dup (p.Arg727LysfsTer?) c.1846dup (p.Arg616LysfsTer?) | ClinVar dbSNP |
7 | g.117592256del | CA645541503 | CFTR | c.2089del (p.Arg697GlyfsTer25) c.*1803del (n.*1803del) c.1906del (p.Arg636GlyfsTer25) c.*389del (n.*389del) c.*1913del (n.*1913del) c.1663del (p.Arg555GlyfsTer25) c.1402-10570del (n.1402-10570del) c.1999del (p.Arg667GlyfsTer25) c.2179del (p.Arg727GlyfsTer25) c.1846del (p.Arg616GlyfsTer25) | ClinVar dbSNP COSMIC |
7 | g.117592252A>C | CA368979616 | CFTR | c.2085A>C (p.Glu695Asp) c.*1799A>C (n.*1799A>C) c.1902A>C (p.Glu634Asp) c.*385A>C (n.*385A>C) c.*1909A>C (n.*1909A>C) c.1659A>C (p.Glu553Asp) c.1402-10574A>C (n.1402-10574A>C) c.1995A>C (p.Glu665Asp) c.2175A>C (p.Glu725Asp) c.1842A>C (p.Glu614Asp) | |
7 | g.117592252A>G | CA457449040 | CFTR | c.2085A>G (p.Glu695=) c.*1799A>G (n.*1799A>G) c.1902A>G (p.Glu634=) c.*385A>G (n.*385A>G) c.*1909A>G (n.*1909A>G) c.1659A>G (p.Glu553=) c.1402-10574A>G (n.1402-10574A>G) c.1995A>G (p.Glu665=) c.2175A>G (p.Glu725=) c.1842A>G (p.Glu614=) | |
7 | g.117592252A>T | CA368979618 | CFTR | c.2085A>T (p.Glu695Asp) c.*1799A>T (n.*1799A>T) c.1902A>T (p.Glu634Asp) c.*385A>T (n.*385A>T) c.*1909A>T (n.*1909A>T) c.1659A>T (p.Glu553Asp) c.1402-10574A>T (n.1402-10574A>T) c.1995A>T (p.Glu665Asp) c.2175A>T (p.Glu725Asp) c.1842A>T (p.Glu614Asp) | |
7 | g.117592253A>C | CA368979620 | CFTR | c.2086A>C (p.Lys696Gln) c.*1800A>C (n.*1800A>C) c.1903A>C (p.Lys635Gln) c.*386A>C (n.*386A>C) c.*1910A>C (n.*1910A>C) c.1660A>C (p.Lys554Gln) c.1402-10573A>C (n.1402-10573A>C) c.1996A>C (p.Lys666Gln) c.2176A>C (p.Lys726Gln) c.1843A>C (p.Lys615Gln) | |
7 | g.117592253A>G | CA368979623 | CFTR | c.2086A>G (p.Lys696Glu) c.*1800A>G (n.*1800A>G) c.1903A>G (p.Lys635Glu) c.*386A>G (n.*386A>G) c.*1910A>G (n.*1910A>G) c.1660A>G (p.Lys554Glu) c.1402-10573A>G (n.1402-10573A>G) c.1996A>G (p.Lys666Glu) c.2176A>G (p.Lys726Glu) c.1843A>G (p.Lys615Glu) | |
7 | g.117592253A>T | CA368979624 | CFTR | c.2086A>T (p.Lys696Ter) c.*1800A>T (n.*1800A>T) c.1903A>T (p.Lys635Ter) c.*386A>T (n.*386A>T) c.*1910A>T (n.*1910A>T) c.1660A>T (p.Lys554Ter) c.1402-10573A>T (n.1402-10573A>T) c.1996A>T (p.Lys666Ter) c.2176A>T (p.Lys726Ter) c.1843A>T (p.Lys615Ter) | |
7 | g.117592254A= | CA1737394747 | CFTR | c.2087A= (p.Lys696=) c.*1801A= (n.*1801A=) c.1904A= (p.Lys635=) c.*387A= (n.*387A=) c.*1911A= (n.*1911A=) c.1661A= (p.Lys554=) c.1402-10572A= (n.1402-10572A=) c.1997A= (p.Lys666=) c.2177A= (p.Lys726=) c.1844A= (p.Lys615=) | |
7 | g.117592254A>C | CA368979628 | CFTR | c.2087A>C (p.Lys696Thr) c.*1801A>C (n.*1801A>C) c.1904A>C (p.Lys635Thr) c.*387A>C (n.*387A>C) c.*1911A>C (n.*1911A>C) c.1661A>C (p.Lys554Thr) c.1402-10572A>C (n.1402-10572A>C) c.1997A>C (p.Lys666Thr) c.2177A>C (p.Lys726Thr) c.1844A>C (p.Lys615Thr) | |
7 | g.117592254A>G | CA326746 | CFTR | c.2087A>G (p.Lys696Arg) c.*1801A>G (n.*1801A>G) c.1904A>G (p.Lys635Arg) c.*387A>G (n.*387A>G) c.*1911A>G (n.*1911A>G) c.1661A>G (p.Lys554Arg) c.1402-10572A>G (n.1402-10572A>G) c.1997A>G (p.Lys666Arg) c.2177A>G (p.Lys726Arg) c.1844A>G (p.Lys615Arg) | ClinVar dbSNP gnomAD v4 |
7 | g.117592254A>T | CA368979630 | CFTR | c.2087A>T (p.Lys696Ile) c.*1801A>T (n.*1801A>T) c.1904A>T (p.Lys635Ile) c.*387A>T (n.*387A>T) c.*1911A>T (n.*1911A>T) c.1661A>T (p.Lys554Ile) c.1402-10572A>T (n.1402-10572A>T) c.1997A>T (p.Lys666Ile) c.2177A>T (p.Lys726Ile) c.1844A>T (p.Lys615Ile) | COSMIC |
7 | g.117592255A>C | CA368979634 | CFTR | c.2088A>C (p.Lys696Asn) c.*1802A>C (n.*1802A>C) c.1905A>C (p.Lys635Asn) c.*388A>C (n.*388A>C) c.*1912A>C (n.*1912A>C) c.1662A>C (p.Lys554Asn) c.1402-10571A>C (n.1402-10571A>C) c.1998A>C (p.Lys666Asn) c.2178A>C (p.Lys726Asn) c.1845A>C (p.Lys615Asn) | |
7 | g.117592255A>G | CA457449041 | CFTR | c.2088A>G (p.Lys696=) c.*1802A>G (n.*1802A>G) c.1905A>G (p.Lys635=) c.*388A>G (n.*388A>G) c.*1912A>G (n.*1912A>G) c.1662A>G (p.Lys554=) c.1402-10571A>G (n.1402-10571A>G) c.1998A>G (p.Lys666=) c.2178A>G (p.Lys726=) c.1845A>G (p.Lys615=) | |
7 | g.117592255A>T | CA368979636 | CFTR | c.2088A>T (p.Lys696Asn) c.*1802A>T (n.*1802A>T) c.1905A>T (p.Lys635Asn) c.*388A>T (n.*388A>T) c.*1912A>T (n.*1912A>T) c.1662A>T (p.Lys554Asn) c.1402-10571A>T (n.1402-10571A>T) c.1998A>T (p.Lys666Asn) c.2178A>T (p.Lys726Asn) c.1845A>T (p.Lys615Asn) | |
7 | g.117592256A>C | CA457449042 | CFTR | c.2089A>C (p.Arg697=) c.*1803A>C (n.*1803A>C) c.1906A>C (p.Arg636=) c.*389A>C (n.*389A>C) c.*1913A>C (n.*1913A>C) c.1663A>C (p.Arg555=) c.1402-10570A>C (n.1402-10570A>C) c.1999A>C (p.Arg667=) c.2179A>C (p.Arg727=) c.1846A>C (p.Arg616=) | gnomAD v4 |
7 | g.117592256A>G | CA368979639 | CFTR | c.2089A>G (p.Arg697Gly) c.*1803A>G (n.*1803A>G) c.1906A>G (p.Arg636Gly) c.*389A>G (n.*389A>G) c.*1913A>G (n.*1913A>G) c.1663A>G (p.Arg555Gly) c.1402-10570A>G (n.1402-10570A>G) c.1999A>G (p.Arg667Gly) c.2179A>G (p.Arg727Gly) c.1846A>G (p.Arg616Gly) | |
7 | g.117592256A>T | CA368979640 | CFTR | c.2089A>T (p.Arg697Trp) c.*1803A>T (n.*1803A>T) c.1906A>T (p.Arg636Trp) c.*389A>T (n.*389A>T) c.*1913A>T (n.*1913A>T) c.1663A>T (p.Arg555Trp) c.1402-10570A>T (n.1402-10570A>T) c.1999A>T (p.Arg667Trp) c.2179A>T (p.Arg727Trp) c.1846A>T (p.Arg616Trp) | |
7 | g.117592257G>A | CA368979643 | CFTR | c.2090G>A (p.Arg697Lys) c.*1804G>A (n.*1804G>A) c.1907G>A (p.Arg636Lys) c.*390G>A (n.*390G>A) c.*1914G>A (n.*1914G>A) c.1664G>A (p.Arg555Lys) c.1402-10569G>A (n.1402-10569G>A) c.2000G>A (p.Arg667Lys) c.2180G>A (p.Arg727Lys) c.1847G>A (p.Arg616Lys) | gnomAD v4 |
7 | g.117592257G>C | CA368979645 | CFTR | c.2090G>C (p.Arg697Thr) c.*1804G>C (n.*1804G>C) c.1907G>C (p.Arg636Thr) c.*390G>C (n.*390G>C) c.*1914G>C (n.*1914G>C) c.1664G>C (p.Arg555Thr) c.1402-10569G>C (n.1402-10569G>C) c.2000G>C (p.Arg667Thr) c.2180G>C (p.Arg727Thr) c.1847G>C (p.Arg616Thr) | |
7 | g.117592257G>T | CA368979648 | CFTR | c.2090G>T (p.Arg697Met) c.*1804G>T (n.*1804G>T) c.1907G>T (p.Arg636Met) c.*390G>T (n.*390G>T) c.*1914G>T (n.*1914G>T) c.1664G>T (p.Arg555Met) c.1402-10569G>T (n.1402-10569G>T) c.2000G>T (p.Arg667Met) c.2180G>T (p.Arg727Met) c.1847G>T (p.Arg616Met) | |
7 | g.117592258G>A | CA457449043 | CFTR | c.2091G>A (p.Arg697=) c.*1805G>A (n.*1805G>A) c.1908G>A (p.Arg636=) c.*391G>A (n.*391G>A) c.*1915G>A (n.*1915G>A) c.1665G>A (p.Arg555=) c.1402-10568G>A (n.1402-10568G>A) c.2001G>A (p.Arg667=) c.2181G>A (p.Arg727=) c.1848G>A (p.Arg616=) | |
7 | g.117592258G>C | CA368979650 | CFTR | c.2091G>C (p.Arg697Ser) c.*1805G>C (n.*1805G>C) c.1908G>C (p.Arg636Ser) c.*391G>C (n.*391G>C) c.*1915G>C (n.*1915G>C) c.1665G>C (p.Arg555Ser) c.1402-10568G>C (n.1402-10568G>C) c.2001G>C (p.Arg667Ser) c.2181G>C (p.Arg727Ser) c.1848G>C (p.Arg616Ser) | |
7 | g.117592258G>T | CA368979652 | CFTR | c.2091G>T (p.Arg697Ser) c.*1805G>T (n.*1805G>T) c.1908G>T (p.Arg636Ser) c.*391G>T (n.*391G>T) c.*1915G>T (n.*1915G>T) c.1665G>T (p.Arg555Ser) c.1402-10568G>T (n.1402-10568G>T) c.2001G>T (p.Arg667Ser) c.2181G>T (p.Arg727Ser) c.1848G>T (p.Arg616Ser) | |
7 | g.117592259A>C | CA368979656 | CFTR | c.2092A>C (p.Lys698Gln) c.*1806A>C (n.*1806A>C) c.1909A>C (p.Lys637Gln) c.*392A>C (n.*392A>C) c.*1916A>C (n.*1916A>C) c.1666A>C (p.Lys556Gln) c.1402-10567A>C (n.1402-10567A>C) c.2002A>C (p.Lys668Gln) c.2182A>C (p.Lys728Gln) c.1849A>C (p.Lys617Gln) | |
7 | g.117592259A>G | CA368979657 | CFTR | c.2092A>G (p.Lys698Glu) c.*1806A>G (n.*1806A>G) c.1909A>G (p.Lys637Glu) c.*392A>G (n.*392A>G) c.*1916A>G (n.*1916A>G) c.1666A>G (p.Lys556Glu) c.1402-10567A>G (n.1402-10567A>G) c.2002A>G (p.Lys668Glu) c.2182A>G (p.Lys728Glu) c.1849A>G (p.Lys617Glu) | COSMIC |
7 | g.117592259A>T | CA368979658 | CFTR | c.2092A>T (p.Lys698Ter) c.*1806A>T (n.*1806A>T) c.1909A>T (p.Lys637Ter) c.*392A>T (n.*392A>T) c.*1916A>T (n.*1916A>T) c.1666A>T (p.Lys556Ter) c.1402-10567A>T (n.1402-10567A>T) c.2002A>T (p.Lys668Ter) c.2182A>T (p.Lys728Ter) c.1849A>T (p.Lys617Ter) | |
7 | g.117592260A>C | CA368979661 | CFTR | c.2093A>C (p.Lys698Thr) c.*1807A>C (n.*1807A>C) c.1910A>C (p.Lys637Thr) c.*393A>C (n.*393A>C) c.*1917A>C (n.*1917A>C) c.1667A>C (p.Lys556Thr) c.1402-10566A>C (n.1402-10566A>C) c.2003A>C (p.Lys668Thr) c.2183A>C (p.Lys728Thr) c.1850A>C (p.Lys617Thr) | |
7 | g.117592260A>G | CA368979663 | CFTR | c.2093A>G (p.Lys698Arg) c.*1807A>G (n.*1807A>G) c.1910A>G (p.Lys637Arg) c.*393A>G (n.*393A>G) c.*1917A>G (n.*1917A>G) c.1667A>G (p.Lys556Arg) c.1402-10566A>G (n.1402-10566A>G) c.2003A>G (p.Lys668Arg) c.2183A>G (p.Lys728Arg) c.1850A>G (p.Lys617Arg) | |
7 | g.117592260A>T | CA368979666 | CFTR | c.2093A>T (p.Lys698Met) c.*1807A>T (n.*1807A>T) c.1910A>T (p.Lys637Met) c.*393A>T (n.*393A>T) c.*1917A>T (n.*1917A>T) c.1667A>T (p.Lys556Met) c.1402-10566A>T (n.1402-10566A>T) c.2003A>T (p.Lys668Met) c.2183A>T (p.Lys728Met) c.1850A>T (p.Lys617Met) | |
7 | g.117592261G>A | CA457449044 | CFTR | c.2094G>A (p.Lys698=) c.*1808G>A (n.*1808G>A) c.1911G>A (p.Lys637=) c.*394G>A (n.*394G>A) c.*1918G>A (n.*1918G>A) c.1668G>A (p.Lys556=) c.1402-10565G>A (n.1402-10565G>A) c.2004G>A (p.Lys668=) c.2184G>A (p.Lys728=) c.1851G>A (p.Lys617=) | ClinVar |
7 | g.117592261G>C | CA368979668 | CFTR | c.2094G>C (p.Lys698Asn) c.*1808G>C (n.*1808G>C) c.1911G>C (p.Lys637Asn) c.*394G>C (n.*394G>C) c.*1918G>C (n.*1918G>C) c.1668G>C (p.Lys556Asn) c.1402-10565G>C (n.1402-10565G>C) c.2004G>C (p.Lys668Asn) c.2184G>C (p.Lys728Asn) c.1851G>C (p.Lys617Asn) | |
7 | g.117592261G>T | CA368979669 | CFTR | c.2094G>T (p.Lys698Asn) c.*1808G>T (n.*1808G>T) c.1911G>T (p.Lys637Asn) c.*394G>T (n.*394G>T) c.*1918G>T (n.*1918G>T) c.1668G>T (p.Lys556Asn) c.1402-10565G>T (n.1402-10565G>T) c.2004G>T (p.Lys668Asn) c.2184G>T (p.Lys728Asn) c.1851G>T (p.Lys617Asn) | COSMIC |
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=) | |
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) | |
7 | g.117592282C>A | CA457449056 | CFTR | c.2115C>A (p.Ile705=) c.*1829C>A (n.*1829C>A) c.1932C>A (p.Ile644=) c.*415C>A (n.*415C>A) c.*1939C>A (n.*1939C>A) c.1689C>A (p.Ile563=) c.1402-10544C>A (n.1402-10544C>A) c.2025C>A (p.Ile675=) c.2205C>A (p.Ile735=) c.1872C>A (p.Ile624=) | ClinVar dbSNP gnomAD v4 |
7 | g.117592282C= | CA1737394784 | CFTR | c.2115C= (p.Ile705=) c.*1829C= (n.*1829C=) c.1932C= (p.Ile644=) c.*415C= (n.*415C=) c.*1939C= (n.*1939C=) c.1689C= (p.Ile563=) c.1402-10544C= (n.1402-10544C=) c.2025C= (p.Ile675=) c.2205C= (p.Ile735=) c.1872C= (p.Ile624=) | |
7 | g.117592282C>G | CA368979805 | CFTR | c.2115C>G (p.Ile705Met) c.*1829C>G (n.*1829C>G) c.1932C>G (p.Ile644Met) c.*415C>G (n.*415C>G) c.*1939C>G (n.*1939C>G) c.1689C>G (p.Ile563Met) c.1402-10544C>G (n.1402-10544C>G) c.2025C>G (p.Ile675Met) c.2205C>G (p.Ile735Met) c.1872C>G (p.Ile624Met) | |
7 | g.117592282C>T | CA457449055 | CFTR | c.2115C>T (p.Ile705=) c.*1829C>T (n.*1829C>T) c.1932C>T (p.Ile644=) c.*415C>T (n.*415C>T) c.*1939C>T (n.*1939C>T) c.1689C>T (p.Ile563=) c.1402-10544C>T (n.1402-10544C>T) c.2025C>T (p.Ile675=) c.2205C>T (p.Ile735=) c.1872C>T (p.Ile624=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592283A>C | CA368979813 | CFTR | c.2116A>C (p.Asn706His) c.*1830A>C (n.*1830A>C) c.1933A>C (p.Asn645His) c.*416A>C (n.*416A>C) c.*1940A>C (n.*1940A>C) c.1690A>C (p.Asn564His) c.1402-10543A>C (n.1402-10543A>C) c.2026A>C (p.Asn676His) c.2206A>C (p.Asn736His) c.1873A>C (p.Asn625His) | |
7 | g.117592283A>G | CA368979809 | CFTR | c.2116A>G (p.Asn706Asp) c.*1830A>G (n.*1830A>G) c.1933A>G (p.Asn645Asp) c.*416A>G (n.*416A>G) c.*1940A>G (n.*1940A>G) c.1690A>G (p.Asn564Asp) c.1402-10543A>G (n.1402-10543A>G) c.2026A>G (p.Asn676Asp) c.2206A>G (p.Asn736Asp) c.1873A>G (p.Asn625Asp) | |
7 | g.117592283A>T | CA368979812 | CFTR | c.2116A>T (p.Asn706Tyr) c.*1830A>T (n.*1830A>T) c.1933A>T (p.Asn645Tyr) c.*416A>T (n.*416A>T) c.*1940A>T (n.*1940A>T) c.1690A>T (p.Asn564Tyr) c.1402-10543A>T (n.1402-10543A>T) c.2026A>T (p.Asn676Tyr) c.2206A>T (p.Asn736Tyr) c.1873A>T (p.Asn625Tyr) | |
7 | g.117592284A= | CA1737394786 | CFTR | c.2117A= (p.Asn706=) c.*1831A= (n.*1831A=) c.1934A= (p.Asn645=) c.*417A= (n.*417A=) c.*1941A= (n.*1941A=) c.1691A= (p.Asn564=) c.1402-10542A= (n.1402-10542A=) c.2027A= (p.Asn676=) c.2207A= (p.Asn736=) c.1874A= (p.Asn625=) | |
7 | g.117592284A>C | CA368979816 | CFTR | c.2117A>C (p.Asn706Thr) c.*1831A>C (n.*1831A>C) c.1934A>C (p.Asn645Thr) c.*417A>C (n.*417A>C) c.*1941A>C (n.*1941A>C) c.1691A>C (p.Asn564Thr) c.1402-10542A>C (n.1402-10542A>C) c.2027A>C (p.Asn676Thr) c.2207A>C (p.Asn736Thr) c.1874A>C (p.Asn625Thr) | |
7 | g.117592284A>G | CA368979817 | CFTR | c.2117A>G (p.Asn706Ser) c.*1831A>G (n.*1831A>G) c.1934A>G (p.Asn645Ser) c.*417A>G (n.*417A>G) c.*1941A>G (n.*1941A>G) c.1691A>G (p.Asn564Ser) c.1402-10542A>G (n.1402-10542A>G) c.2027A>G (p.Asn676Ser) c.2207A>G (p.Asn736Ser) c.1874A>G (p.Asn625Ser) | |
7 | g.117592284A>T | CA164947853 | CFTR | c.2117A>T (p.Asn706Ile) c.*1831A>T (n.*1831A>T) c.1934A>T (p.Asn645Ile) c.*417A>T (n.*417A>T) c.*1941A>T (n.*1941A>T) c.1691A>T (p.Asn564Ile) c.1402-10542A>T (n.1402-10542A>T) c.2027A>T (p.Asn676Ile) c.2207A>T (p.Asn736Ile) c.1874A>T (p.Asn625Ile) | dbSNP |
7 | g.117592285C>A | CA368979824 | CFTR | c.2118C>A (p.Asn706Lys) c.*1832C>A (n.*1832C>A) c.1935C>A (p.Asn645Lys) c.*418C>A (n.*418C>A) c.*1942C>A (n.*1942C>A) c.1692C>A (p.Asn564Lys) c.1402-10541C>A (n.1402-10541C>A) c.2028C>A (p.Asn676Lys) c.2208C>A (p.Asn736Lys) c.1875C>A (p.Asn625Lys) | |
7 | g.117592285C= | CA1737394790 | CFTR | c.2118C= (p.Asn706=) c.*1832C= (n.*1832C=) c.1935C= (p.Asn645=) c.*418C= (n.*418C=) c.*1942C= (n.*1942C=) c.1692C= (p.Asn564=) c.1402-10541C= (n.1402-10541C=) c.2028C= (p.Asn676=) c.2208C= (p.Asn736=) c.1875C= (p.Asn625=) | |
7 | g.117592285C>G | CA368979825 | CFTR | c.2118C>G (p.Asn706Lys) c.*1832C>G (n.*1832C>G) c.1935C>G (p.Asn645Lys) c.*418C>G (n.*418C>G) c.*1942C>G (n.*1942C>G) c.1692C>G (p.Asn564Lys) c.1402-10541C>G (n.1402-10541C>G) c.2028C>G (p.Asn676Lys) c.2208C>G (p.Asn736Lys) c.1875C>G (p.Asn625Lys) | |
7 | g.117592285C>T | CA457449057 | CFTR | c.2118C>T (p.Asn706=) c.*1832C>T (n.*1832C>T) c.1935C>T (p.Asn645=) c.*418C>T (n.*418C>T) c.*1942C>T (n.*1942C>T) c.1692C>T (p.Asn564=) c.1402-10541C>T (n.1402-10541C>T) c.2028C>T (p.Asn676=) c.2208C>T (p.Asn736=) c.1875C>T (p.Asn625=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592286T>A | CA368979827 | CFTR | c.2119T>A (p.Ser707Thr) c.*1833T>A (n.*1833T>A) c.1936T>A (p.Ser646Thr) c.*419T>A (n.*419T>A) c.*1943T>A (n.*1943T>A) c.1693T>A (p.Ser565Thr) c.1402-10540T>A (n.1402-10540T>A) c.2029T>A (p.Ser677Thr) c.2209T>A (p.Ser737Thr) c.1876T>A (p.Ser626Thr) | |
7 | g.117592286T>C | CA368979829 | CFTR | c.2119T>C (p.Ser707Pro) c.*1833T>C (n.*1833T>C) c.1936T>C (p.Ser646Pro) c.*419T>C (n.*419T>C) c.*1943T>C (n.*1943T>C) c.1693T>C (p.Ser565Pro) c.1402-10540T>C (n.1402-10540T>C) c.2029T>C (p.Ser677Pro) c.2209T>C (p.Ser737Pro) c.1876T>C (p.Ser626Pro) | |
7 | g.117592286T>G | CA368979832 | CFTR | c.2119T>G (p.Ser707Ala) c.*1833T>G (n.*1833T>G) c.1936T>G (p.Ser646Ala) c.*419T>G (n.*419T>G) c.*1943T>G (n.*1943T>G) c.1693T>G (p.Ser565Ala) c.1402-10540T>G (n.1402-10540T>G) c.2029T>G (p.Ser677Ala) c.2209T>G (p.Ser737Ala) c.1876T>G (p.Ser626Ala) | |
7 | g.117592287C>A | CA368979836 | CFTR | c.2120C>A (p.Ser707Tyr) c.*1834C>A (n.*1834C>A) c.1937C>A (p.Ser646Tyr) c.*420C>A (n.*420C>A) c.*1944C>A (n.*1944C>A) c.1694C>A (p.Ser565Tyr) c.1402-10539C>A (n.1402-10539C>A) c.2030C>A (p.Ser677Tyr) c.2210C>A (p.Ser737Tyr) c.1877C>A (p.Ser626Tyr) | |
7 | g.117592287C= | CA1737394796 | CFTR | c.2120C= (p.Ser707=) c.*1834C= (n.*1834C=) c.1937C= (p.Ser646=) c.*420C= (n.*420C=) c.*1944C= (n.*1944C=) c.1694C= (p.Ser565=) c.1402-10539C= (n.1402-10539C=) c.2030C= (p.Ser677=) c.2210C= (p.Ser737=) c.1877C= (p.Ser626=) | |
7 | g.117592287C>G | CA368979840 | CFTR | c.2120C>G (p.Ser707Cys) c.*1834C>G (n.*1834C>G) c.1937C>G (p.Ser646Cys) c.*420C>G (n.*420C>G) c.*1944C>G (n.*1944C>G) c.1694C>G (p.Ser565Cys) c.1402-10539C>G (n.1402-10539C>G) c.2030C>G (p.Ser677Cys) c.2210C>G (p.Ser737Cys) c.1877C>G (p.Ser626Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592287C>T | CA368979843 | CFTR | c.2120C>T (p.Ser707Phe) c.*1834C>T (n.*1834C>T) c.1937C>T (p.Ser646Phe) c.*420C>T (n.*420C>T) c.*1944C>T (n.*1944C>T) c.1694C>T (p.Ser565Phe) c.1402-10539C>T (n.1402-10539C>T) c.2030C>T (p.Ser677Phe) c.2210C>T (p.Ser737Phe) c.1877C>T (p.Ser626Phe) | |
7 | g.117592288T>A | CA457449058 | CFTR | c.2121T>A (p.Ser707=) c.*1835T>A (n.*1835T>A) c.1938T>A (p.Ser646=) c.*421T>A (n.*421T>A) c.*1945T>A (n.*1945T>A) c.1695T>A (p.Ser565=) c.1402-10538T>A (n.1402-10538T>A) c.2031T>A (p.Ser677=) c.2211T>A (p.Ser737=) c.1878T>A (p.Ser626=) | ClinVar dbSNP |
7 | g.117592288T>C | CA457449059 | CFTR | c.2121T>C (p.Ser707=) c.*1835T>C (n.*1835T>C) c.1938T>C (p.Ser646=) c.*421T>C (n.*421T>C) c.*1945T>C (n.*1945T>C) c.1695T>C (p.Ser565=) c.1402-10538T>C (n.1402-10538T>C) c.2031T>C (p.Ser677=) c.2211T>C (p.Ser737=) c.1878T>C (p.Ser626=) | |
7 | g.117592288T>G | CA457449060 | CFTR | c.2121T>G (p.Ser707=) c.*1835T>G (n.*1835T>G) c.1938T>G (p.Ser646=) c.*421T>G (n.*421T>G) c.*1945T>G (n.*1945T>G) c.1695T>G (p.Ser565=) c.1402-10538T>G (n.1402-10538T>G) c.2031T>G (p.Ser677=) c.2211T>G (p.Ser737=) c.1878T>G (p.Ser626=) | |
7 | g.117592289A>C | CA368979844 | CFTR | c.2122A>C (p.Ile708Leu) c.*1836A>C (n.*1836A>C) c.1939A>C (p.Ile647Leu) c.*422A>C (n.*422A>C) c.*1946A>C (n.*1946A>C) c.1696A>C (p.Ile566Leu) c.1402-10537A>C (n.1402-10537A>C) c.2032A>C (p.Ile678Leu) c.2212A>C (p.Ile738Leu) c.1879A>C (p.Ile627Leu) | |
7 | g.117592289A>G | CA368979847 | CFTR | c.2122A>G (p.Ile708Val) c.*1836A>G (n.*1836A>G) c.1939A>G (p.Ile647Val) c.*422A>G (n.*422A>G) c.*1946A>G (n.*1946A>G) c.1696A>G (p.Ile566Val) c.1402-10537A>G (n.1402-10537A>G) c.2032A>G (p.Ile678Val) c.2212A>G (p.Ile738Val) c.1879A>G (p.Ile627Val) | COSMIC |
7 | g.117592289A>T | CA368979845 | CFTR | c.2122A>T (p.Ile708Leu) c.*1836A>T (n.*1836A>T) c.1939A>T (p.Ile647Leu) c.*422A>T (n.*422A>T) c.*1946A>T (n.*1946A>T) c.1696A>T (p.Ile566Leu) c.1402-10537A>T (n.1402-10537A>T) c.2032A>T (p.Ile678Leu) c.2212A>T (p.Ile738Leu) c.1879A>T (p.Ile627Leu) | |
7 | g.117592290T>A | CA368979850 | CFTR | c.2123T>A (p.Ile708Lys) c.*1837T>A (n.*1837T>A) c.1940T>A (p.Ile647Lys) c.*423T>A (n.*423T>A) c.*1947T>A (n.*1947T>A) c.1697T>A (p.Ile566Lys) c.1402-10536T>A (n.1402-10536T>A) c.2033T>A (p.Ile678Lys) c.2213T>A (p.Ile738Lys) c.1880T>A (p.Ile627Lys) | |
7 | g.117592290T>C | CA4451144 | CFTR | c.2123T>C (p.Ile708Thr) c.*1837T>C (n.*1837T>C) c.1940T>C (p.Ile647Thr) c.*423T>C (n.*423T>C) c.*1947T>C (n.*1947T>C) c.1697T>C (p.Ile566Thr) c.1402-10536T>C (n.1402-10536T>C) c.2033T>C (p.Ile678Thr) c.2213T>C (p.Ile738Thr) c.1880T>C (p.Ile627Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592290T>G | CA368979859 | CFTR | c.2123T>G (p.Ile708Arg) c.*1837T>G (n.*1837T>G) c.1940T>G (p.Ile647Arg) c.*423T>G (n.*423T>G) c.*1947T>G (n.*1947T>G) c.1697T>G (p.Ile566Arg) c.1402-10536T>G (n.1402-10536T>G) c.2033T>G (p.Ile678Arg) c.2213T>G (p.Ile738Arg) c.1880T>G (p.Ile627Arg) | |
7 | g.117592290T= | CA1737394807 | CFTR | c.2123T= (p.Ile708=) c.*1837T= (n.*1837T=) c.1940T= (p.Ile647=) c.*423T= (n.*423T=) c.*1947T= (n.*1947T=) c.1697T= (p.Ile566=) c.1402-10536T= (n.1402-10536T=) c.2033T= (p.Ile678=) c.2213T= (p.Ile738=) c.1880T= (p.Ile627=) | |
7 | g.117592291A>C | CA457449061 | CFTR | c.2124A>C (p.Ile708=) c.*1838A>C (n.*1838A>C) c.1941A>C (p.Ile647=) c.*424A>C (n.*424A>C) c.*1948A>C (n.*1948A>C) c.1698A>C (p.Ile566=) c.1402-10535A>C (n.1402-10535A>C) c.2034A>C (p.Ile678=) c.2214A>C (p.Ile738=) c.1881A>C (p.Ile627=) | gnomAD v4 |
7 | g.117592291A>G | CA368979862 | CFTR | c.2124A>G (p.Ile708Met) c.*1838A>G (n.*1838A>G) c.1941A>G (p.Ile647Met) c.*424A>G (n.*424A>G) c.*1948A>G (n.*1948A>G) c.1698A>G (p.Ile566Met) c.1402-10535A>G (n.1402-10535A>G) c.2034A>G (p.Ile678Met) c.2214A>G (p.Ile738Met) c.1881A>G (p.Ile627Met) | |
7 | g.117592291A>T | CA457449062 | CFTR | c.2124A>T (p.Ile708=) c.*1838A>T (n.*1838A>T) c.1941A>T (p.Ile647=) c.*424A>T (n.*424A>T) c.*1948A>T (n.*1948A>T) c.1698A>T (p.Ile566=) c.1402-10535A>T (n.1402-10535A>T) c.2034A>T (p.Ile678=) c.2214A>T (p.Ile738=) c.1881A>T (p.Ile627=) | ClinVar |
7 | g.117592292C>A | CA457449063 | CFTR | c.2125C>A (p.Arg709=) c.*1839C>A (n.*1839C>A) c.1942C>A (p.Arg648=) c.*425C>A (n.*425C>A) c.*1949C>A (n.*1949C>A) c.1699C>A (p.Arg567=) c.1402-10534C>A (n.1402-10534C>A) c.2035C>A (p.Arg679=) c.2215C>A (p.Arg739=) c.1882C>A (p.Arg628=) | |
7 | g.117592292C= | CA1737394818 | CFTR | c.2125C= (p.Arg709=) c.*1839C= (n.*1839C=) c.1942C= (p.Arg648=) c.*425C= (n.*425C=) c.*1949C= (n.*1949C=) c.1699C= (p.Arg567=) c.1402-10534C= (n.1402-10534C=) c.2035C= (p.Arg679=) c.2215C= (p.Arg739=) c.1882C= (p.Arg628=) | |
7 | g.117592292C>G | CA368979863 | CFTR | c.2125C>G (p.Arg709Gly) c.*1839C>G (n.*1839C>G) c.1942C>G (p.Arg648Gly) c.*425C>G (n.*425C>G) c.*1949C>G (n.*1949C>G) c.1699C>G (p.Arg567Gly) c.1402-10534C>G (n.1402-10534C>G) c.2035C>G (p.Arg679Gly) c.2215C>G (p.Arg739Gly) c.1882C>G (p.Arg628Gly) | ClinVar dbSNP gnomAD v4 |
7 | g.117592292C>T | CA328093 | CFTR | c.2125C>T (p.Arg709Ter) c.*1839C>T (n.*1839C>T) c.1942C>T (p.Arg648Ter) c.*425C>T (n.*425C>T) c.*1949C>T (n.*1949C>T) c.1699C>T (p.Arg567Ter) c.1402-10534C>T (n.1402-10534C>T) c.2035C>T (p.Arg679Ter) c.2215C>T (p.Arg739Ter) c.1882C>T (p.Arg628Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.117592292_117592293delinsCG | CA1737394816 | CFTR | c.2125_2126delinsCG (p.Arg709=) c.*1839_*1840delinsCG (n.*1839_*1840delinsCG) c.1942_1943delinsCG (p.Arg648=) c.*425_*426delinsCG (n.*425_*426delinsCG) c.*1949_*1950delinsCG (n.*1949_*1950delinsCG) c.1699_1700delinsCG (p.Arg567=) c.1402-10534_1402-10533delinsCG (n.1402-10534_1402-10533delinsCG) c.2035_2036delinsCG (p.Arg679=) c.2215_2216delinsCG (p.Arg739=) c.1882_1883delinsCG (p.Arg628=) | |
7 | g.117592293del | CA164947854 | CFTR | c.2126del (p.Arg709GlnfsTer13) c.*1840del (n.*1840del) c.1943del (p.Arg648GlnfsTer13) c.*426del (n.*426del) c.*1950del (n.*1950del) c.1700del (p.Arg567GlnfsTer13) c.1402-10533del (n.1402-10533del) c.2036del (p.Arg679GlnfsTer13) c.2216del (p.Arg739GlnfsTer13) c.1883del (p.Arg628GlnfsTer13) | dbSNP |
7 | g.117592293G>A | CA326749 | CFTR | c.2126G>A (p.Arg709Gln) c.*1840G>A (n.*1840G>A) c.1943G>A (p.Arg648Gln) c.*426G>A (n.*426G>A) c.*1950G>A (n.*1950G>A) c.1700G>A (p.Arg567Gln) c.1402-10533G>A (n.1402-10533G>A) c.2036G>A (p.Arg679Gln) c.2216G>A (p.Arg739Gln) c.1883G>A (p.Arg628Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.117592293G>C | CA368979868 | CFTR | c.2126G>C (p.Arg709Pro) c.*1840G>C (n.*1840G>C) c.1943G>C (p.Arg648Pro) c.*426G>C (n.*426G>C) c.*1950G>C (n.*1950G>C) c.1700G>C (p.Arg567Pro) c.1402-10533G>C (n.1402-10533G>C) c.2036G>C (p.Arg679Pro) c.2216G>C (p.Arg739Pro) c.1883G>C (p.Arg628Pro) | |
7 | g.117592293G= | CA1737394826 | CFTR | c.2126G= (p.Arg709=) c.*1840G= (n.*1840G=) c.1943G= (p.Arg648=) c.*426G= (n.*426G=) c.*1950G= (n.*1950G=) c.1700G= (p.Arg567=) c.1402-10533G= (n.1402-10533G=) c.2036G= (p.Arg679=) c.2216G= (p.Arg739=) c.1883G= (p.Arg628=) | |
7 | g.117592293G>T | CA368979871 | CFTR | c.2126G>T (p.Arg709Leu) c.*1840G>T (n.*1840G>T) c.1943G>T (p.Arg648Leu) c.*426G>T (n.*426G>T) c.*1950G>T (n.*1950G>T) c.1700G>T (p.Arg567Leu) c.1402-10533G>T (n.1402-10533G>T) c.2036G>T (p.Arg679Leu) c.2216G>T (p.Arg739Leu) c.1883G>T (p.Arg628Leu) | |
7 | g.117592294A>C | CA457449064 | CFTR | c.2127A>C (p.Arg709=) c.*1841A>C (n.*1841A>C) c.1944A>C (p.Arg648=) c.*427A>C (n.*427A>C) c.*1951A>C (n.*1951A>C) c.1701A>C (p.Arg567=) c.1402-10532A>C (n.1402-10532A>C) c.2037A>C (p.Arg679=) c.2217A>C (p.Arg739=) c.1884A>C (p.Arg628=) | |
7 | g.117592294A>G | CA457449065 | CFTR | c.2127A>G (p.Arg709=) c.*1841A>G (n.*1841A>G) c.1944A>G (p.Arg648=) c.*427A>G (n.*427A>G) c.*1951A>G (n.*1951A>G) c.1701A>G (p.Arg567=) c.1402-10532A>G (n.1402-10532A>G) c.2037A>G (p.Arg679=) c.2217A>G (p.Arg739=) c.1884A>G (p.Arg628=) | ClinVar dbSNP |
7 | g.117592294A>T | CA457449066 | CFTR | c.2127A>T (p.Arg709=) c.*1841A>T (n.*1841A>T) c.1944A>T (p.Arg648=) c.*427A>T (n.*427A>T) c.*1951A>T (n.*1951A>T) c.1701A>T (p.Arg567=) c.1402-10532A>T (n.1402-10532A>T) c.2037A>T (p.Arg679=) c.2217A>T (p.Arg739=) c.1884A>T (p.Arg628=) | |
7 | g.117592295A= | CA1737394835 | CFTR | c.2128A= (p.Lys710=) c.*1842A= (n.*1842A=) c.1945A= (p.Lys649=) c.*428A= (n.*428A=) c.*1952A= (n.*1952A=) c.1702A= (p.Lys568=) c.1402-10531A= (n.1402-10531A=) c.2038A= (p.Lys680=) c.2218A= (p.Lys740=) c.1885A= (p.Lys629=) | |
7 | g.117592295A>C | CA368979887 | CFTR | c.2128A>C (p.Lys710Gln) c.*1842A>C (n.*1842A>C) c.1945A>C (p.Lys649Gln) c.*428A>C (n.*428A>C) c.*1952A>C (n.*1952A>C) c.1702A>C (p.Lys568Gln) c.1402-10531A>C (n.1402-10531A>C) c.2038A>C (p.Lys680Gln) c.2218A>C (p.Lys740Gln) c.1885A>C (p.Lys629Gln) | |
7 | g.117592295A>G | CA368979884 | CFTR | c.2128A>G (p.Lys710Glu) c.*1842A>G (n.*1842A>G) c.1945A>G (p.Lys649Glu) c.*428A>G (n.*428A>G) c.*1952A>G (n.*1952A>G) c.1702A>G (p.Lys568Glu) c.1402-10531A>G (n.1402-10531A>G) c.2038A>G (p.Lys680Glu) c.2218A>G (p.Lys740Glu) c.1885A>G (p.Lys629Glu) | |
7 | g.117592295A>T | CA325588 | CFTR | c.2128A>T (p.Lys710Ter) c.*1842A>T (n.*1842A>T) c.1945A>T (p.Lys649Ter) c.*428A>T (n.*428A>T) c.*1952A>T (n.*1952A>T) c.1702A>T (p.Lys568Ter) c.1402-10531A>T (n.1402-10531A>T) c.2038A>T (p.Lys680Ter) c.2218A>T (p.Lys740Ter) c.1885A>T (p.Lys629Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.117592296A>C | CA368979891 | CFTR | c.2129A>C (p.Lys710Thr) c.*1843A>C (n.*1843A>C) c.1946A>C (p.Lys649Thr) c.*429A>C (n.*429A>C) c.*1953A>C (n.*1953A>C) c.1703A>C (p.Lys568Thr) c.1402-10530A>C (n.1402-10530A>C) c.2039A>C (p.Lys680Thr) c.2219A>C (p.Lys740Thr) c.1886A>C (p.Lys629Thr) | |
7 | g.117592296A>G | CA368979893 | CFTR | c.2129A>G (p.Lys710Arg) c.*1843A>G (n.*1843A>G) c.1946A>G (p.Lys649Arg) c.*429A>G (n.*429A>G) c.*1953A>G (n.*1953A>G) c.1703A>G (p.Lys568Arg) c.1402-10530A>G (n.1402-10530A>G) c.2039A>G (p.Lys680Arg) c.2219A>G (p.Lys740Arg) c.1886A>G (p.Lys629Arg) | ClinVar dbSNP |
7 | g.117592296A>T | CA368979895 | CFTR | c.2129A>T (p.Lys710Ile) c.*1843A>T (n.*1843A>T) c.1946A>T (p.Lys649Ile) c.*429A>T (n.*429A>T) c.*1953A>T (n.*1953A>T) c.1703A>T (p.Lys568Ile) c.1402-10530A>T (n.1402-10530A>T) c.2039A>T (p.Lys680Ile) c.2219A>T (p.Lys740Ile) c.1886A>T (p.Lys629Ile) | |
7 | g.117592297A= | CA1737394840 | CFTR | c.2130A= (p.Lys710=) c.*1844A= (n.*1844A=) c.1947A= (p.Lys649=) c.*430A= (n.*430A=) c.*1954A= (n.*1954A=) c.1704A= (p.Lys568=) c.1402-10529A= (n.1402-10529A=) c.2040A= (p.Lys680=) c.2220A= (p.Lys740=) c.1887A= (p.Lys629=) | |
7 | g.117592297A>C | CA368979899 | CFTR | c.2130A>C (p.Lys710Asn) c.*1844A>C (n.*1844A>C) c.1947A>C (p.Lys649Asn) c.*430A>C (n.*430A>C) c.*1954A>C (n.*1954A>C) c.1704A>C (p.Lys568Asn) c.1402-10529A>C (n.1402-10529A>C) c.2040A>C (p.Lys680Asn) c.2220A>C (p.Lys740Asn) c.1887A>C (p.Lys629Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592297A>G | CA457449067 | CFTR | c.2130A>G (p.Lys710=) c.*1844A>G (n.*1844A>G) c.1947A>G (p.Lys649=) c.*430A>G (n.*430A>G) c.*1954A>G (n.*1954A>G) c.1704A>G (p.Lys568=) c.1402-10529A>G (n.1402-10529A>G) c.2040A>G (p.Lys680=) c.2220A>G (p.Lys740=) c.1887A>G (p.Lys629=) | ClinVar |
7 | g.117592297A>T | CA368979901 | CFTR | c.2130A>T (p.Lys710Asn) c.*1844A>T (n.*1844A>T) c.1947A>T (p.Lys649Asn) c.*430A>T (n.*430A>T) c.*1954A>T (n.*1954A>T) c.1704A>T (p.Lys568Asn) c.1402-10529A>T (n.1402-10529A>T) c.2040A>T (p.Lys680Asn) c.2220A>T (p.Lys740Asn) c.1887A>T (p.Lys629Asn) | |
7 | g.117592298T>A | CA368979910 | CFTR | c.2131T>A (p.Phe711Ile) c.*1845T>A (n.*1845T>A) c.1948T>A (p.Phe650Ile) c.*431T>A (n.*431T>A) c.*1955T>A (n.*1955T>A) c.1705T>A (p.Phe569Ile) c.1402-10528T>A (n.1402-10528T>A) c.2041T>A (p.Phe681Ile) c.2221T>A (p.Phe741Ile) c.1888T>A (p.Phe630Ile) | |
7 | g.117592298T>C | CA368979911 | CFTR | c.2131T>C (p.Phe711Leu) c.*1845T>C (n.*1845T>C) c.1948T>C (p.Phe650Leu) c.*431T>C (n.*431T>C) c.*1955T>C (n.*1955T>C) c.1705T>C (p.Phe569Leu) c.1402-10528T>C (n.1402-10528T>C) c.2041T>C (p.Phe681Leu) c.2221T>C (p.Phe741Leu) c.1888T>C (p.Phe630Leu) | ClinVar dbSNP |
7 | g.117592298T>G | CA368979912 | CFTR | c.2131T>G (p.Phe711Val) c.*1845T>G (n.*1845T>G) c.1948T>G (p.Phe650Val) c.*431T>G (n.*431T>G) c.*1955T>G (n.*1955T>G) c.1705T>G (p.Phe569Val) c.1402-10528T>G (n.1402-10528T>G) c.2041T>G (p.Phe681Val) c.2221T>G (p.Phe741Val) c.1888T>G (p.Phe630Val) | dbSNP gnomAD v4 |
7 | g.117592298T= | CA1737394845 | CFTR | c.2131T= (p.Phe711=) c.*1845T= (n.*1845T=) c.1948T= (p.Phe650=) c.*431T= (n.*431T=) c.*1955T= (n.*1955T=) c.1705T= (p.Phe569=) c.1402-10528T= (n.1402-10528T=) c.2041T= (p.Phe681=) c.2221T= (p.Phe741=) c.1888T= (p.Phe630=) | |
7 | g.117592299T>A | CA368979915 | CFTR | c.2132T>A (p.Phe711Tyr) c.*1846T>A (n.*1846T>A) c.1949T>A (p.Phe650Tyr) c.*432T>A (n.*432T>A) c.*1956T>A (n.*1956T>A) c.1706T>A (p.Phe569Tyr) c.1402-10527T>A (n.1402-10527T>A) c.2042T>A (p.Phe681Tyr) c.2222T>A (p.Phe741Tyr) c.1889T>A (p.Phe630Tyr) | |
7 | g.117592299T>C | CA368979917 | CFTR | c.2132T>C (p.Phe711Ser) c.*1846T>C (n.*1846T>C) c.1949T>C (p.Phe650Ser) c.*432T>C (n.*432T>C) c.*1956T>C (n.*1956T>C) c.1706T>C (p.Phe569Ser) c.1402-10527T>C (n.1402-10527T>C) c.2042T>C (p.Phe681Ser) c.2222T>C (p.Phe741Ser) c.1889T>C (p.Phe630Ser) | |
7 | g.117592299T>G | CA368979920 | CFTR | c.2132T>G (p.Phe711Cys) c.*1846T>G (n.*1846T>G) c.1949T>G (p.Phe650Cys) c.*432T>G (n.*432T>G) c.*1956T>G (n.*1956T>G) c.1706T>G (p.Phe569Cys) c.1402-10527T>G (n.1402-10527T>G) c.2042T>G (p.Phe681Cys) c.2222T>G (p.Phe741Cys) c.1889T>G (p.Phe630Cys) | |
7 | g.117592300T>A | CA368979923 | CFTR | c.2133T>A (p.Phe711Leu) c.*1847T>A (n.*1847T>A) c.1950T>A (p.Phe650Leu) c.*433T>A (n.*433T>A) c.*1957T>A (n.*1957T>A) c.1707T>A (p.Phe569Leu) c.1402-10526T>A (n.1402-10526T>A) c.2043T>A (p.Phe681Leu) c.2223T>A (p.Phe741Leu) c.1890T>A (p.Phe630Leu) | |
7 | g.117592300T>C | CA457449068 | CFTR | c.2133T>C (p.Phe711=) c.*1847T>C (n.*1847T>C) c.1950T>C (p.Phe650=) c.*433T>C (n.*433T>C) c.*1957T>C (n.*1957T>C) c.1707T>C (p.Phe569=) c.1402-10526T>C (n.1402-10526T>C) c.2043T>C (p.Phe681=) c.2223T>C (p.Phe741=) c.1890T>C (p.Phe630=) | ClinVar |
7 | g.117592300T>G | CA368979925 | CFTR | c.2133T>G (p.Phe711Leu) c.*1847T>G (n.*1847T>G) c.1950T>G (p.Phe650Leu) c.*433T>G (n.*433T>G) c.*1957T>G (n.*1957T>G) c.1707T>G (p.Phe569Leu) c.1402-10526T>G (n.1402-10526T>G) c.2043T>G (p.Phe681Leu) c.2223T>G (p.Phe741Leu) c.1890T>G (p.Phe630Leu) | |
7 | g.117592301T>A | CA368979941 | CFTR | c.2134T>A (p.Ser712Thr) c.*1848T>A (n.*1848T>A) c.1951T>A (p.Ser651Thr) c.*434T>A (n.*434T>A) c.*1958T>A (n.*1958T>A) c.1708T>A (p.Ser570Thr) c.1402-10525T>A (n.1402-10525T>A) c.2044T>A (p.Ser682Thr) c.2224T>A (p.Ser742Thr) c.1891T>A (p.Ser631Thr) | |
7 | g.117592301T>C | CA368979936 | CFTR | c.2134T>C (p.Ser712Pro) c.*1848T>C (n.*1848T>C) c.1951T>C (p.Ser651Pro) c.*434T>C (n.*434T>C) c.*1958T>C (n.*1958T>C) c.1708T>C (p.Ser570Pro) c.1402-10525T>C (n.1402-10525T>C) c.2044T>C (p.Ser682Pro) c.2224T>C (p.Ser742Pro) c.1891T>C (p.Ser631Pro) | |
7 | g.117592301T>G | CA368979939 | CFTR | c.2134T>G (p.Ser712Ala) c.*1848T>G (n.*1848T>G) c.1951T>G (p.Ser651Ala) c.*434T>G (n.*434T>G) c.*1958T>G (n.*1958T>G) c.1708T>G (p.Ser570Ala) c.1402-10525T>G (n.1402-10525T>G) c.2044T>G (p.Ser682Ala) c.2224T>G (p.Ser742Ala) c.1891T>G (p.Ser631Ala) | |
7 | g.117592302C>A | CA368979944 | CFTR | c.2135C>A (p.Ser712Tyr) c.*1849C>A (n.*1849C>A) c.1952C>A (p.Ser651Tyr) c.*435C>A (n.*435C>A) c.*1959C>A (n.*1959C>A) c.1709C>A (p.Ser570Tyr) c.1402-10524C>A (n.1402-10524C>A) c.2045C>A (p.Ser682Tyr) c.2225C>A (p.Ser742Tyr) c.1892C>A (p.Ser631Tyr) | |
7 | g.117592302C>G | CA368979946 | CFTR | c.2135C>G (p.Ser712Cys) c.*1849C>G (n.*1849C>G) c.1952C>G (p.Ser651Cys) c.*435C>G (n.*435C>G) c.*1959C>G (n.*1959C>G) c.1709C>G (p.Ser570Cys) c.1402-10524C>G (n.1402-10524C>G) c.2045C>G (p.Ser682Cys) c.2225C>G (p.Ser742Cys) c.1892C>G (p.Ser631Cys) | |
7 | g.117592302C>T | CA368979950 | CFTR | c.2135C>T (p.Ser712Phe) c.*1849C>T (n.*1849C>T) c.1952C>T (p.Ser651Phe) c.*435C>T (n.*435C>T) c.*1959C>T (n.*1959C>T) c.1709C>T (p.Ser570Phe) c.1402-10524C>T (n.1402-10524C>T) c.2045C>T (p.Ser682Phe) c.2225C>T (p.Ser742Phe) c.1892C>T (p.Ser631Phe) | |
7 | g.117592303C>A | CA457449069 | CFTR | c.2136C>A (p.Ser712=) c.*1850C>A (n.*1850C>A) c.1953C>A (p.Ser651=) c.*436C>A (n.*436C>A) c.*1960C>A (n.*1960C>A) c.1710C>A (p.Ser570=) c.1402-10523C>A (n.1402-10523C>A) c.2046C>A (p.Ser682=) c.2226C>A (p.Ser742=) c.1893C>A (p.Ser631=) | |
7 | g.117592303C>G | CA457449070 | CFTR | c.2136C>G (p.Ser712=) c.*1850C>G (n.*1850C>G) c.1953C>G (p.Ser651=) c.*436C>G (n.*436C>G) c.*1960C>G (n.*1960C>G) c.1710C>G (p.Ser570=) c.1402-10523C>G (n.1402-10523C>G) c.2046C>G (p.Ser682=) c.2226C>G (p.Ser742=) c.1893C>G (p.Ser631=) | |
7 | g.117592303C>T | CA457449071 | CFTR | c.2136C>T (p.Ser712=) c.*1850C>T (n.*1850C>T) c.1953C>T (p.Ser651=) c.*436C>T (n.*436C>T) c.*1960C>T (n.*1960C>T) c.1710C>T (p.Ser570=) c.1402-10523C>T (n.1402-10523C>T) c.2046C>T (p.Ser682=) c.2226C>T (p.Ser742=) c.1893C>T (p.Ser631=) | ClinVar |
7 | g.117592304A= | CA1737394848 | CFTR | c.2137A= (p.Ile713=) c.*1851A= (n.*1851A=) c.1954A= (p.Ile652=) c.*437A= (n.*437A=) c.*1961A= (n.*1961A=) c.1711A= (p.Ile571=) c.1402-10522A= (n.1402-10522A=) c.2047A= (p.Ile683=) c.2227A= (p.Ile743=) c.1894A= (p.Ile632=) | |
7 | g.117592304A>C | CA368979956 | CFTR | c.2137A>C (p.Ile713Leu) c.*1851A>C (n.*1851A>C) c.1954A>C (p.Ile652Leu) c.*437A>C (n.*437A>C) c.*1961A>C (n.*1961A>C) c.1711A>C (p.Ile571Leu) c.1402-10522A>C (n.1402-10522A>C) c.2047A>C (p.Ile683Leu) c.2227A>C (p.Ile743Leu) c.1894A>C (p.Ile632Leu) | |
7 | g.117592304A>G | CA368979959 | CFTR | c.2137A>G (p.Ile713Val) c.*1851A>G (n.*1851A>G) c.1954A>G (p.Ile652Val) c.*437A>G (n.*437A>G) c.*1961A>G (n.*1961A>G) c.1711A>G (p.Ile571Val) c.1402-10522A>G (n.1402-10522A>G) c.2047A>G (p.Ile683Val) c.2227A>G (p.Ile743Val) c.1894A>G (p.Ile632Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592304A>T | CA368979962 | CFTR | c.2137A>T (p.Ile713Phe) c.*1851A>T (n.*1851A>T) c.1954A>T (p.Ile652Phe) c.*437A>T (n.*437A>T) c.*1961A>T (n.*1961A>T) c.1711A>T (p.Ile571Phe) c.1402-10522A>T (n.1402-10522A>T) c.2047A>T (p.Ile683Phe) c.2227A>T (p.Ile743Phe) c.1894A>T (p.Ile632Phe) | |
7 | g.117592305T>A | CA368979964 | CFTR | c.2138T>A (p.Ile713Asn) c.*1852T>A (n.*1852T>A) c.1955T>A (p.Ile652Asn) c.*438T>A (n.*438T>A) c.*1962T>A (n.*1962T>A) c.1712T>A (p.Ile571Asn) c.1402-10521T>A (n.1402-10521T>A) c.2048T>A (p.Ile683Asn) c.2228T>A (p.Ile743Asn) c.1895T>A (p.Ile632Asn) | |
7 | g.117592305T>C | CA368979965 | CFTR | c.2138T>C (p.Ile713Thr) c.*1852T>C (n.*1852T>C) c.1955T>C (p.Ile652Thr) c.*438T>C (n.*438T>C) c.*1962T>C (n.*1962T>C) c.1712T>C (p.Ile571Thr) c.1402-10521T>C (n.1402-10521T>C) c.2048T>C (p.Ile683Thr) c.2228T>C (p.Ile743Thr) c.1895T>C (p.Ile632Thr) | |
7 | g.117592305T>G | CA368979966 | CFTR | c.2138T>G (p.Ile713Ser) c.*1852T>G (n.*1852T>G) c.1955T>G (p.Ile652Ser) c.*438T>G (n.*438T>G) c.*1962T>G (n.*1962T>G) c.1712T>G (p.Ile571Ser) c.1402-10521T>G (n.1402-10521T>G) c.2048T>G (p.Ile683Ser) c.2228T>G (p.Ile743Ser) c.1895T>G (p.Ile632Ser) |