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.117592320C>A | CA368980060 | CFTR | c.2153C>A (p.Pro718His) c.*1867C>A (n.*1867C>A) c.1970C>A (p.Pro657His) c.*453C>A (n.*453C>A) c.*1977C>A (n.*1977C>A) c.1727C>A (p.Pro576His) c.1402-10506C>A (n.1402-10506C>A) c.2063C>A (p.Pro688His) c.2243C>A (p.Pro748His) c.1910C>A (p.Pro637His) | |
7 | g.117592320C= | CA1737394897 | CFTR | c.2153C= (p.Pro718=) c.*1867C= (n.*1867C=) c.1970C= (p.Pro657=) c.*453C= (n.*453C=) c.*1977C= (n.*1977C=) c.1727C= (p.Pro576=) c.1402-10506C= (n.1402-10506C=) c.2063C= (p.Pro688=) c.2243C= (p.Pro748=) c.1910C= (p.Pro637=) | |
7 | g.117592320C>G | CA4451149 | CFTR | c.2153C>G (p.Pro718Arg) c.*1867C>G (n.*1867C>G) c.1970C>G (p.Pro657Arg) c.*453C>G (n.*453C>G) c.*1977C>G (n.*1977C>G) c.1727C>G (p.Pro576Arg) c.1402-10506C>G (n.1402-10506C>G) c.2063C>G (p.Pro688Arg) c.2243C>G (p.Pro748Arg) c.1910C>G (p.Pro637Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592320C>T | CA368980051 | CFTR | c.2153C>T (p.Pro718Leu) c.*1867C>T (n.*1867C>T) c.1970C>T (p.Pro657Leu) c.*453C>T (n.*453C>T) c.*1977C>T (n.*1977C>T) c.1727C>T (p.Pro576Leu) c.1402-10506C>T (n.1402-10506C>T) c.2063C>T (p.Pro688Leu) c.2243C>T (p.Pro748Leu) c.1910C>T (p.Pro637Leu) | |
7 | g.117592321C>A | CA457449386 | CFTR | c.2154C>A (p.Pro718=) c.*1868C>A (n.*1868C>A) c.1971C>A (p.Pro657=) c.*454C>A (n.*454C>A) c.*1978C>A (n.*1978C>A) c.1728C>A (p.Pro576=) c.1402-10505C>A (n.1402-10505C>A) c.2064C>A (p.Pro688=) c.2244C>A (p.Pro748=) c.1911C>A (p.Pro637=) | |
7 | g.117592321C>G | CA457449385 | CFTR | c.2154C>G (p.Pro718=) c.*1868C>G (n.*1868C>G) c.1971C>G (p.Pro657=) c.*454C>G (n.*454C>G) c.*1978C>G (n.*1978C>G) c.1728C>G (p.Pro576=) c.1402-10505C>G (n.1402-10505C>G) c.2064C>G (p.Pro688=) c.2244C>G (p.Pro748=) c.1911C>G (p.Pro637=) | |
7 | g.117592321C>T | CA457449387 | CFTR | c.2154C>T (p.Pro718=) c.*1868C>T (n.*1868C>T) c.1971C>T (p.Pro657=) c.*454C>T (n.*454C>T) c.*1978C>T (n.*1978C>T) c.1728C>T (p.Pro576=) c.1402-10505C>T (n.1402-10505C>T) c.2064C>T (p.Pro688=) c.2244C>T (p.Pro748=) c.1911C>T (p.Pro637=) | ClinVar |
7 | g.117592322T>A | CA368980061 | CFTR | c.2155T>A (p.Leu719Ile) c.*1869T>A (n.*1869T>A) c.1972T>A (p.Leu658Ile) c.*455T>A (n.*455T>A) c.*1979T>A (n.*1979T>A) c.1729T>A (p.Leu577Ile) c.1402-10504T>A (n.1402-10504T>A) c.2065T>A (p.Leu689Ile) c.2245T>A (p.Leu749Ile) c.1912T>A (p.Leu638Ile) | |
7 | g.117592322T>C | CA457449388 | CFTR | c.2155T>C (p.Leu719=) c.*1869T>C (n.*1869T>C) c.1972T>C (p.Leu658=) c.*455T>C (n.*455T>C) c.*1979T>C (n.*1979T>C) c.1729T>C (p.Leu577=) c.1402-10504T>C (n.1402-10504T>C) c.2065T>C (p.Leu689=) c.2245T>C (p.Leu749=) c.1912T>C (p.Leu638=) | |
7 | g.117592322T>G | CA368980062 | CFTR | c.2155T>G (p.Leu719Val) c.*1869T>G (n.*1869T>G) c.1972T>G (p.Leu658Val) c.*455T>G (n.*455T>G) c.*1979T>G (n.*1979T>G) c.1729T>G (p.Leu577Val) c.1402-10504T>G (n.1402-10504T>G) c.2065T>G (p.Leu689Val) c.2245T>G (p.Leu749Val) c.1912T>G (p.Leu638Val) | |
7 | g.117592323T>A | CA326754 | CFTR | c.2156T>A (p.Leu719Ter) c.*1870T>A (n.*1870T>A) c.1973T>A (p.Leu658Ter) c.*456T>A (n.*456T>A) c.*1980T>A (n.*1980T>A) c.1730T>A (p.Leu577Ter) c.1402-10503T>A (n.1402-10503T>A) c.2066T>A (p.Leu689Ter) c.2246T>A (p.Leu749Ter) c.1913T>A (p.Leu638Ter) | ClinVar dbSNP |
7 | g.117592323T>C | CA368980077 | CFTR | c.2156T>C (p.Leu719Ser) c.*1870T>C (n.*1870T>C) c.1973T>C (p.Leu658Ser) c.*456T>C (n.*456T>C) c.*1980T>C (n.*1980T>C) c.1730T>C (p.Leu577Ser) c.1402-10503T>C (n.1402-10503T>C) c.2066T>C (p.Leu689Ser) c.2246T>C (p.Leu749Ser) c.1913T>C (p.Leu638Ser) | |
7 | g.117592323T>G | CA368980084 | CFTR | c.2156T>G (p.Leu719Ter) c.*1870T>G (n.*1870T>G) c.1973T>G (p.Leu658Ter) c.*456T>G (n.*456T>G) c.*1980T>G (n.*1980T>G) c.1730T>G (p.Leu577Ter) c.1402-10503T>G (n.1402-10503T>G) c.2066T>G (p.Leu689Ter) c.2246T>G (p.Leu749Ter) c.1913T>G (p.Leu638Ter) | |
7 | g.117592323T= | CA1737394903 | CFTR | c.2156T= (p.Leu719=) c.*1870T= (n.*1870T=) c.1973T= (p.Leu658=) c.*456T= (n.*456T=) c.*1980T= (n.*1980T=) c.1730T= (p.Leu577=) c.1402-10503T= (n.1402-10503T=) c.2066T= (p.Leu689=) c.2246T= (p.Leu749=) c.1913T= (p.Leu638=) | |
7 | g.117592324A>C | CA368980087 | CFTR | c.2157A>C (p.Leu719Phe) c.*1871A>C (n.*1871A>C) c.1974A>C (p.Leu658Phe) c.*457A>C (n.*457A>C) c.*1981A>C (n.*1981A>C) c.1731A>C (p.Leu577Phe) c.1402-10502A>C (n.1402-10502A>C) c.2067A>C (p.Leu689Phe) c.2247A>C (p.Leu749Phe) c.1914A>C (p.Leu638Phe) | |
7 | g.117592324A>G | CA457449389 | CFTR | c.2157A>G (p.Leu719=) c.*1871A>G (n.*1871A>G) c.1974A>G (p.Leu658=) c.*457A>G (n.*457A>G) c.*1981A>G (n.*1981A>G) c.1731A>G (p.Leu577=) c.1402-10502A>G (n.1402-10502A>G) c.2067A>G (p.Leu689=) c.2247A>G (p.Leu749=) c.1914A>G (p.Leu638=) | |
7 | g.117592324A>T | CA368980089 | CFTR | c.2157A>T (p.Leu719Phe) c.*1871A>T (n.*1871A>T) c.1974A>T (p.Leu658Phe) c.*457A>T (n.*457A>T) c.*1981A>T (n.*1981A>T) c.1731A>T (p.Leu577Phe) c.1402-10502A>T (n.1402-10502A>T) c.2067A>T (p.Leu689Phe) c.2247A>T (p.Leu749Phe) c.1914A>T (p.Leu638Phe) | |
7 | g.117592324_117592333delinsGTAAG | CA2695208511 | CFTR | c.2157_2166delinsGTAAG (p.Gln720Ter) c.*1871_*1880delinsGTAAG (n.*1871_*1880delinsGTAAG) c.1974_1983delinsGTAAG (p.Gln659Ter) c.*457_*466delinsGTAAG (n.*457_*466delinsGTAAG) c.*1981_*1990delinsGTAAG (n.*1981_*1990delinsGTAAG) c.1731_1740delinsGTAAG (p.Gln578Ter) c.1402-10502_1402-10493delinsGTAAG (n.1402-10502_1402-10493delinsGTAAG) c.2067_2076delinsGTAAG (p.Gln690Ter) c.2247_2256delinsGTAAG (p.Gln750Ter) c.1914_1923delinsGTAAG (p.Gln639Ter) | |
7 | g.117592325C>A | CA368980093 | CFTR | c.2158C>A (p.Gln720Lys) c.*1872C>A (n.*1872C>A) c.1975C>A (p.Gln659Lys) c.*458C>A (n.*458C>A) c.*1982C>A (n.*1982C>A) c.1732C>A (p.Gln578Lys) c.1402-10501C>A (n.1402-10501C>A) c.2068C>A (p.Gln690Lys) c.2248C>A (p.Gln750Lys) c.1915C>A (p.Gln639Lys) | |
7 | g.117592325C= | CA1737394909 | CFTR | c.2158C= (p.Gln720=) c.*1872C= (n.*1872C=) c.1975C= (p.Gln659=) c.*458C= (n.*458C=) c.*1982C= (n.*1982C=) c.1732C= (p.Gln578=) c.1402-10501C= (n.1402-10501C=) c.2068C= (p.Gln690=) c.2248C= (p.Gln750=) c.1915C= (p.Gln639=) | |
7 | g.117592325C>G | CA368980102 | CFTR | c.2158C>G (p.Gln720Glu) c.*1872C>G (n.*1872C>G) c.1975C>G (p.Gln659Glu) c.*458C>G (n.*458C>G) c.*1982C>G (n.*1982C>G) c.1732C>G (p.Gln578Glu) c.1402-10501C>G (n.1402-10501C>G) c.2068C>G (p.Gln690Glu) c.2248C>G (p.Gln750Glu) c.1915C>G (p.Gln639Glu) | |
7 | g.117592325C>T | CA326756 | CFTR | c.2158C>T (p.Gln720Ter) c.*1872C>T (n.*1872C>T) c.1975C>T (p.Gln659Ter) c.*458C>T (n.*458C>T) c.*1982C>T (n.*1982C>T) c.1732C>T (p.Gln578Ter) c.1402-10501C>T (n.1402-10501C>T) c.2068C>T (p.Gln690Ter) c.2248C>T (p.Gln750Ter) c.1915C>T (p.Gln639Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592326A= | CA1737394915 | CFTR | c.2159A= (p.Gln720=) c.*1873A= (n.*1873A=) c.1976A= (p.Gln659=) c.*459A= (n.*459A=) c.*1983A= (n.*1983A=) c.1733A= (p.Gln578=) c.1402-10500A= (n.1402-10500A=) c.2069A= (p.Gln690=) c.2249A= (p.Gln750=) c.1916A= (p.Gln639=) | |
7 | g.117592326A>C | CA368980111 | CFTR | c.2159A>C (p.Gln720Pro) c.*1873A>C (n.*1873A>C) c.1976A>C (p.Gln659Pro) c.*459A>C (n.*459A>C) c.*1983A>C (n.*1983A>C) c.1733A>C (p.Gln578Pro) c.1402-10500A>C (n.1402-10500A>C) c.2069A>C (p.Gln690Pro) c.2249A>C (p.Gln750Pro) c.1916A>C (p.Gln639Pro) | |
7 | g.117592326A>G | CA4451150 | CFTR | c.2159A>G (p.Gln720Arg) c.*1873A>G (n.*1873A>G) c.1976A>G (p.Gln659Arg) c.*459A>G (n.*459A>G) c.*1983A>G (n.*1983A>G) c.1733A>G (p.Gln578Arg) c.1402-10500A>G (n.1402-10500A>G) c.2069A>G (p.Gln690Arg) c.2249A>G (p.Gln750Arg) c.1916A>G (p.Gln639Arg) | dbSNP ExAC gnomAD v2 |
7 | g.117592326A>T | CA368980115 | CFTR | c.2159A>T (p.Gln720Leu) c.*1873A>T (n.*1873A>T) c.1976A>T (p.Gln659Leu) c.*459A>T (n.*459A>T) c.*1983A>T (n.*1983A>T) c.1733A>T (p.Gln578Leu) c.1402-10500A>T (n.1402-10500A>T) c.2069A>T (p.Gln690Leu) c.2249A>T (p.Gln750Leu) c.1916A>T (p.Gln639Leu) | |
7 | g.117592328del | CA2580614246 | CFTR | c.2161del (p.Met721Ter) c.*1875del (n.*1875del) c.1978del (p.Met660Ter) c.*461del (n.*461del) c.*1985del (n.*1985del) c.1735del (p.Met579Ter) c.1402-10498del (n.1402-10498del) c.2071del (p.Met691Ter) c.2251del (p.Met751Ter) c.1918del (p.Met640Ter) | ClinVar |
7 | g.117592327A>C | CA368980117 | CFTR | c.2160A>C (p.Gln720His) c.*1874A>C (n.*1874A>C) c.1977A>C (p.Gln659His) c.*460A>C (n.*460A>C) c.*1984A>C (n.*1984A>C) c.1734A>C (p.Gln578His) c.1402-10499A>C (n.1402-10499A>C) c.2070A>C (p.Gln690His) c.2250A>C (p.Gln750His) c.1917A>C (p.Gln639His) | |
7 | g.117592327A>G | CA457449390 | CFTR | c.2160A>G (p.Gln720=) c.*1874A>G (n.*1874A>G) c.1977A>G (p.Gln659=) c.*460A>G (n.*460A>G) c.*1984A>G (n.*1984A>G) c.1734A>G (p.Gln578=) c.1402-10499A>G (n.1402-10499A>G) c.2070A>G (p.Gln690=) c.2250A>G (p.Gln750=) c.1917A>G (p.Gln639=) | |
7 | g.117592327A>T | CA368980116 | CFTR | c.2160A>T (p.Gln720His) c.*1874A>T (n.*1874A>T) c.1977A>T (p.Gln659His) c.*460A>T (n.*460A>T) c.*1984A>T (n.*1984A>T) c.1734A>T (p.Gln578His) c.1402-10499A>T (n.1402-10499A>T) c.2070A>T (p.Gln690His) c.2250A>T (p.Gln750His) c.1917A>T (p.Gln639His) | |
7 | g.117592328A>C | CA368980119 | CFTR | c.2161A>C (p.Met721Leu) c.*1875A>C (n.*1875A>C) c.1978A>C (p.Met660Leu) c.*461A>C (n.*461A>C) c.*1985A>C (n.*1985A>C) c.1735A>C (p.Met579Leu) c.1402-10498A>C (n.1402-10498A>C) c.2071A>C (p.Met691Leu) c.2251A>C (p.Met751Leu) c.1918A>C (p.Met640Leu) | |
7 | g.117592328A>G | CA368980122 | CFTR | c.2161A>G (p.Met721Val) c.*1875A>G (n.*1875A>G) c.1978A>G (p.Met660Val) c.*461A>G (n.*461A>G) c.*1985A>G (n.*1985A>G) c.1735A>G (p.Met579Val) c.1402-10498A>G (n.1402-10498A>G) c.2071A>G (p.Met691Val) c.2251A>G (p.Met751Val) c.1918A>G (p.Met640Val) | gnomAD v4 |
7 | g.117592328A>T | CA368980125 | CFTR | c.2161A>T (p.Met721Leu) c.*1875A>T (n.*1875A>T) c.1978A>T (p.Met660Leu) c.*461A>T (n.*461A>T) c.*1985A>T (n.*1985A>T) c.1735A>T (p.Met579Leu) c.1402-10498A>T (n.1402-10498A>T) c.2071A>T (p.Met691Leu) c.2251A>T (p.Met751Leu) c.1918A>T (p.Met640Leu) | |
7 | g.117592329T>A | CA368980128 | CFTR | c.2162T>A (p.Met721Lys) c.*1876T>A (n.*1876T>A) c.1979T>A (p.Met660Lys) c.*462T>A (n.*462T>A) c.*1986T>A (n.*1986T>A) c.1736T>A (p.Met579Lys) c.1402-10497T>A (n.1402-10497T>A) c.2072T>A (p.Met691Lys) c.2252T>A (p.Met751Lys) c.1919T>A (p.Met640Lys) | |
7 | g.117592329T>C | CA368980130 | CFTR | c.2162T>C (p.Met721Thr) c.*1876T>C (n.*1876T>C) c.1979T>C (p.Met660Thr) c.*462T>C (n.*462T>C) c.*1986T>C (n.*1986T>C) c.1736T>C (p.Met579Thr) c.1402-10497T>C (n.1402-10497T>C) c.2072T>C (p.Met691Thr) c.2252T>C (p.Met751Thr) c.1919T>C (p.Met640Thr) | |
7 | g.117592329T>G | CA368980134 | CFTR | c.2162T>G (p.Met721Arg) c.*1876T>G (n.*1876T>G) c.1979T>G (p.Met660Arg) c.*462T>G (n.*462T>G) c.*1986T>G (n.*1986T>G) c.1736T>G (p.Met579Arg) c.1402-10497T>G (n.1402-10497T>G) c.2072T>G (p.Met691Arg) c.2252T>G (p.Met751Arg) c.1919T>G (p.Met640Arg) | |
7 | g.117592330G>A | CA368980137 | CFTR | c.2163G>A (p.Met721Ile) c.*1877G>A (n.*1877G>A) c.1980G>A (p.Met660Ile) c.*463G>A (n.*463G>A) c.*1987G>A (n.*1987G>A) c.1737G>A (p.Met579Ile) c.1402-10496G>A (n.1402-10496G>A) c.2073G>A (p.Met691Ile) c.2253G>A (p.Met751Ile) c.1920G>A (p.Met640Ile) | |
7 | g.117592330G>C | CA368980139 | CFTR | c.2163G>C (p.Met721Ile) c.*1877G>C (n.*1877G>C) c.1980G>C (p.Met660Ile) c.*463G>C (n.*463G>C) c.*1987G>C (n.*1987G>C) c.1737G>C (p.Met579Ile) c.1402-10496G>C (n.1402-10496G>C) c.2073G>C (p.Met691Ile) c.2253G>C (p.Met751Ile) c.1920G>C (p.Met640Ile) | |
7 | g.117592330G>T | CA368980142 | CFTR | c.2163G>T (p.Met721Ile) c.*1877G>T (n.*1877G>T) c.1980G>T (p.Met660Ile) c.*463G>T (n.*463G>T) c.*1987G>T (n.*1987G>T) c.1737G>T (p.Met579Ile) c.1402-10496G>T (n.1402-10496G>T) c.2073G>T (p.Met691Ile) c.2253G>T (p.Met751Ile) c.1920G>T (p.Met640Ile) | |
7 | g.117592331A>C | CA368980146 | CFTR | c.2164A>C (p.Asn722His) c.*1878A>C (n.*1878A>C) c.1981A>C (p.Asn661His) c.*464A>C (n.*464A>C) c.*1988A>C (n.*1988A>C) c.1738A>C (p.Asn580His) c.1402-10495A>C (n.1402-10495A>C) c.2074A>C (p.Asn692His) c.2254A>C (p.Asn752His) c.1921A>C (p.Asn641His) | |
7 | g.117592331A>G | CA368980148 | CFTR | c.2164A>G (p.Asn722Asp) c.*1878A>G (n.*1878A>G) c.1981A>G (p.Asn661Asp) c.*464A>G (n.*464A>G) c.*1988A>G (n.*1988A>G) c.1738A>G (p.Asn580Asp) c.1402-10495A>G (n.1402-10495A>G) c.2074A>G (p.Asn692Asp) c.2254A>G (p.Asn752Asp) c.1921A>G (p.Asn641Asp) | |
7 | g.117592331A>T | CA368980150 | CFTR | c.2164A>T (p.Asn722Tyr) c.*1878A>T (n.*1878A>T) c.1981A>T (p.Asn661Tyr) c.*464A>T (n.*464A>T) c.*1988A>T (n.*1988A>T) c.1738A>T (p.Asn580Tyr) c.1402-10495A>T (n.1402-10495A>T) c.2074A>T (p.Asn692Tyr) c.2254A>T (p.Asn752Tyr) c.1921A>T (p.Asn641Tyr) | |
7 | g.117592332A>C | CA368980156 | CFTR | c.2165A>C (p.Asn722Thr) c.*1879A>C (n.*1879A>C) c.1982A>C (p.Asn661Thr) c.*465A>C (n.*465A>C) c.*1989A>C (n.*1989A>C) c.1739A>C (p.Asn580Thr) c.1402-10494A>C (n.1402-10494A>C) c.2075A>C (p.Asn692Thr) c.2255A>C (p.Asn752Thr) c.1922A>C (p.Asn641Thr) | ClinVar |
7 | g.117592332A>G | CA368980160 | CFTR | c.2165A>G (p.Asn722Ser) c.*1879A>G (n.*1879A>G) c.1982A>G (p.Asn661Ser) c.*465A>G (n.*465A>G) c.*1989A>G (n.*1989A>G) c.1739A>G (p.Asn580Ser) c.1402-10494A>G (n.1402-10494A>G) c.2075A>G (p.Asn692Ser) c.2255A>G (p.Asn752Ser) c.1922A>G (p.Asn641Ser) | |
7 | g.117592332A>T | CA368980158 | CFTR | c.2165A>T (p.Asn722Ile) c.*1879A>T (n.*1879A>T) c.1982A>T (p.Asn661Ile) c.*465A>T (n.*465A>T) c.*1989A>T (n.*1989A>T) c.1739A>T (p.Asn580Ile) c.1402-10494A>T (n.1402-10494A>T) c.2075A>T (p.Asn692Ile) c.2255A>T (p.Asn752Ile) c.1922A>T (p.Asn641Ile) | gnomAD v4 |
7 | g.117592333T>A | CA368980162 | CFTR | c.2166T>A (p.Asn722Lys) c.*1880T>A (n.*1880T>A) c.1983T>A (p.Asn661Lys) c.*466T>A (n.*466T>A) c.*1990T>A (n.*1990T>A) c.1740T>A (p.Asn580Lys) c.1402-10493T>A (n.1402-10493T>A) c.2076T>A (p.Asn692Lys) c.2256T>A (p.Asn752Lys) c.1923T>A (p.Asn641Lys) | ClinVar dbSNP |
7 | g.117592333T>C | CA457449391 | CFTR | c.2166T>C (p.Asn722=) c.*1880T>C (n.*1880T>C) c.1983T>C (p.Asn661=) c.*466T>C (n.*466T>C) c.*1990T>C (n.*1990T>C) c.1740T>C (p.Asn580=) c.1402-10493T>C (n.1402-10493T>C) c.2076T>C (p.Asn692=) c.2256T>C (p.Asn752=) c.1923T>C (p.Asn641=) | ClinVar dbSNP |
7 | g.117592333T>G | CA368980168 | CFTR | c.2166T>G (p.Asn722Lys) c.*1880T>G (n.*1880T>G) c.1983T>G (p.Asn661Lys) c.*466T>G (n.*466T>G) c.*1990T>G (n.*1990T>G) c.1740T>G (p.Asn580Lys) c.1402-10493T>G (n.1402-10493T>G) c.2076T>G (p.Asn692Lys) c.2256T>G (p.Asn752Lys) c.1923T>G (p.Asn641Lys) | |
7 | g.117592333T= | CA1737394920 | CFTR | c.2166T= (p.Asn722=) c.*1880T= (n.*1880T=) c.1983T= (p.Asn661=) c.*466T= (n.*466T=) c.*1990T= (n.*1990T=) c.1740T= (p.Asn580=) c.1402-10493T= (n.1402-10493T=) c.2076T= (p.Asn692=) c.2256T= (p.Asn752=) c.1923T= (p.Asn641=) | |
7 | g.117592334G>A | CA368980172 | CFTR | c.2167G>A (p.Gly723Ser) c.*1881G>A (n.*1881G>A) c.1984G>A (p.Gly662Ser) c.*467G>A (n.*467G>A) c.*1991G>A (n.*1991G>A) c.1741G>A (p.Gly581Ser) c.1402-10492G>A (n.1402-10492G>A) c.2077G>A (p.Gly693Ser) c.2257G>A (p.Gly753Ser) c.1924G>A (p.Gly642Ser) | |
7 | g.117592334G>C | CA368980179 | CFTR | c.2167G>C (p.Gly723Arg) c.*1881G>C (n.*1881G>C) c.1984G>C (p.Gly662Arg) c.*467G>C (n.*467G>C) c.*1991G>C (n.*1991G>C) c.1741G>C (p.Gly581Arg) c.1402-10492G>C (n.1402-10492G>C) c.2077G>C (p.Gly693Arg) c.2257G>C (p.Gly753Arg) c.1924G>C (p.Gly642Arg) | |
7 | g.117592334G>T | CA368980174 | CFTR | c.2167G>T (p.Gly723Cys) c.*1881G>T (n.*1881G>T) c.1984G>T (p.Gly662Cys) c.*467G>T (n.*467G>T) c.*1991G>T (n.*1991G>T) c.1741G>T (p.Gly581Cys) c.1402-10492G>T (n.1402-10492G>T) c.2077G>T (p.Gly693Cys) c.2257G>T (p.Gly753Cys) c.1924G>T (p.Gly642Cys) | |
7 | g.117592335G>A | CA368980187 | CFTR | c.2168G>A (p.Gly723Asp) c.*1882G>A (n.*1882G>A) c.1985G>A (p.Gly662Asp) c.*468G>A (n.*468G>A) c.*1992G>A (n.*1992G>A) c.1742G>A (p.Gly581Asp) c.1402-10491G>A (n.1402-10491G>A) c.2078G>A (p.Gly693Asp) c.2258G>A (p.Gly753Asp) c.1925G>A (p.Gly642Asp) | |
7 | g.117592335G>C | CA368980190 | CFTR | c.2168G>C (p.Gly723Ala) c.*1882G>C (n.*1882G>C) c.1985G>C (p.Gly662Ala) c.*468G>C (n.*468G>C) c.*1992G>C (n.*1992G>C) c.1742G>C (p.Gly581Ala) c.1402-10491G>C (n.1402-10491G>C) c.2078G>C (p.Gly693Ala) c.2258G>C (p.Gly753Ala) c.1925G>C (p.Gly642Ala) | |
7 | g.117592335G= | CA1737394927 | CFTR | c.2168G= (p.Gly723=) c.*1882G= (n.*1882G=) c.1985G= (p.Gly662=) c.*468G= (n.*468G=) c.*1992G= (n.*1992G=) c.1742G= (p.Gly581=) c.1402-10491G= (n.1402-10491G=) c.2078G= (p.Gly693=) c.2258G= (p.Gly753=) c.1925G= (p.Gly642=) | |
7 | g.117592335G>T | CA326760 | CFTR | c.2168G>T (p.Gly723Val) c.*1882G>T (n.*1882G>T) c.1985G>T (p.Gly662Val) c.*468G>T (n.*468G>T) c.*1992G>T (n.*1992G>T) c.1742G>T (p.Gly581Val) c.1402-10491G>T (n.1402-10491G>T) c.2078G>T (p.Gly693Val) c.2258G>T (p.Gly753Val) c.1925G>T (p.Gly642Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592336C>A | CA457449393 | CFTR | c.2169C>A (p.Gly723=) c.*1883C>A (n.*1883C>A) c.1986C>A (p.Gly662=) c.*469C>A (n.*469C>A) c.*1993C>A (n.*1993C>A) c.1743C>A (p.Gly581=) c.1402-10490C>A (n.1402-10490C>A) c.2079C>A (p.Gly693=) c.2259C>A (p.Gly753=) c.1926C>A (p.Gly642=) | |
7 | g.117592336C>G | CA457449394 | CFTR | c.2169C>G (p.Gly723=) c.*1883C>G (n.*1883C>G) c.1986C>G (p.Gly662=) c.*469C>G (n.*469C>G) c.*1993C>G (n.*1993C>G) c.1743C>G (p.Gly581=) c.1402-10490C>G (n.1402-10490C>G) c.2079C>G (p.Gly693=) c.2259C>G (p.Gly753=) c.1926C>G (p.Gly642=) | |
7 | g.117592336C>T | CA457449392 | CFTR | c.2169C>T (p.Gly723=) c.*1883C>T (n.*1883C>T) c.1986C>T (p.Gly662=) c.*469C>T (n.*469C>T) c.*1993C>T (n.*1993C>T) c.1743C>T (p.Gly581=) c.1402-10490C>T (n.1402-10490C>T) c.2079C>T (p.Gly693=) c.2259C>T (p.Gly753=) c.1926C>T (p.Gly642=) | ClinVar gnomAD v4 |
7 | g.117592337A>C | CA368980192 | CFTR | c.2170A>C (p.Ile724Leu) c.*1884A>C (n.*1884A>C) c.1987A>C (p.Ile663Leu) c.*470A>C (n.*470A>C) c.*1994A>C (n.*1994A>C) c.1744A>C (p.Ile582Leu) c.1402-10489A>C (n.1402-10489A>C) c.2080A>C (p.Ile694Leu) c.2260A>C (p.Ile754Leu) c.1927A>C (p.Ile643Leu) | ClinVar gnomAD v4 |
7 | g.117592337A>G | CA368980196 | CFTR | c.2170A>G (p.Ile724Val) c.*1884A>G (n.*1884A>G) c.1987A>G (p.Ile663Val) c.*470A>G (n.*470A>G) c.*1994A>G (n.*1994A>G) c.1744A>G (p.Ile582Val) c.1402-10489A>G (n.1402-10489A>G) c.2080A>G (p.Ile694Val) c.2260A>G (p.Ile754Val) c.1927A>G (p.Ile643Val) | ClinVar |
7 | g.117592337A>T | CA368980194 | CFTR | c.2170A>T (p.Ile724Phe) c.*1884A>T (n.*1884A>T) c.1987A>T (p.Ile663Phe) c.*470A>T (n.*470A>T) c.*1994A>T (n.*1994A>T) c.1744A>T (p.Ile582Phe) c.1402-10489A>T (n.1402-10489A>T) c.2080A>T (p.Ile694Phe) c.2260A>T (p.Ile754Phe) c.1927A>T (p.Ile643Phe) | |
7 | g.117592338_117592341del | CA2715457499 | CFTR | c.2171_2174del (p.Ile724LysfsTer8) c.*1885_*1888del (n.*1885_*1888del) c.1988_1991del (p.Ile663LysfsTer8) c.*471_*474del (n.*471_*474del) c.*1995_*1998del (n.*1995_*1998del) c.1745_1748del (p.Ile582LysfsTer8) c.1402-10488_1402-10485del (n.1402-10488_1402-10485del) c.2081_2084del (p.Ile694LysfsTer8) c.2261_2264del (p.Ile754LysfsTer8) c.1928_1931del (p.Ile643LysfsTer8) | dbSNP |
7 | g.117592338T>A | CA368980200 | CFTR | c.2171T>A (p.Ile724Asn) c.*1885T>A (n.*1885T>A) c.1988T>A (p.Ile663Asn) c.*471T>A (n.*471T>A) c.*1995T>A (n.*1995T>A) c.1745T>A (p.Ile582Asn) c.1402-10488T>A (n.1402-10488T>A) c.2081T>A (p.Ile694Asn) c.2261T>A (p.Ile754Asn) c.1928T>A (p.Ile643Asn) | |
7 | g.117592338T>C | CA368980206 | CFTR | c.2171T>C (p.Ile724Thr) c.*1885T>C (n.*1885T>C) c.1988T>C (p.Ile663Thr) c.*471T>C (n.*471T>C) c.*1995T>C (n.*1995T>C) c.1745T>C (p.Ile582Thr) c.1402-10488T>C (n.1402-10488T>C) c.2081T>C (p.Ile694Thr) c.2261T>C (p.Ile754Thr) c.1928T>C (p.Ile643Thr) | ClinVar gnomAD v4 |
7 | g.117592338T>G | CA368980205 | CFTR | c.2171T>G (p.Ile724Ser) c.*1885T>G (n.*1885T>G) c.1988T>G (p.Ile663Ser) c.*471T>G (n.*471T>G) c.*1995T>G (n.*1995T>G) c.1745T>G (p.Ile582Ser) c.1402-10488T>G (n.1402-10488T>G) c.2081T>G (p.Ile694Ser) c.2261T>G (p.Ile754Ser) c.1928T>G (p.Ile643Ser) | |
7 | g.117592339C>A | CA457449395 | CFTR | c.2172C>A (p.Ile724=) c.*1886C>A (n.*1886C>A) c.1989C>A (p.Ile663=) c.*472C>A (n.*472C>A) c.*1996C>A (n.*1996C>A) c.1746C>A (p.Ile582=) c.1402-10487C>A (n.1402-10487C>A) c.2082C>A (p.Ile694=) c.2262C>A (p.Ile754=) c.1929C>A (p.Ile643=) | ClinVar dbSNP |
7 | g.117592339C= | CA1737394931 | CFTR | c.2172C= (p.Ile724=) c.*1886C= (n.*1886C=) c.1989C= (p.Ile663=) c.*472C= (n.*472C=) c.*1996C= (n.*1996C=) c.1746C= (p.Ile582=) c.1402-10487C= (n.1402-10487C=) c.2082C= (p.Ile694=) c.2262C= (p.Ile754=) c.1929C= (p.Ile643=) | |
7 | g.117592339C>G | CA368980207 | CFTR | c.2172C>G (p.Ile724Met) c.*1886C>G (n.*1886C>G) c.1989C>G (p.Ile663Met) c.*472C>G (n.*472C>G) c.*1996C>G (n.*1996C>G) c.1746C>G (p.Ile582Met) c.1402-10487C>G (n.1402-10487C>G) c.2082C>G (p.Ile694Met) c.2262C>G (p.Ile754Met) c.1929C>G (p.Ile643Met) | dbSNP |
7 | g.117592339C>T | CA164947935 | CFTR | c.2172C>T (p.Ile724=) c.*1886C>T (n.*1886C>T) c.1989C>T (p.Ile663=) c.*472C>T (n.*472C>T) c.*1996C>T (n.*1996C>T) c.1746C>T (p.Ile582=) c.1402-10487C>T (n.1402-10487C>T) c.2082C>T (p.Ile694=) c.2262C>T (p.Ile754=) c.1929C>T (p.Ile643=) | ClinVar dbSNP gnomAD v4 COSMIC |
7 | g.117592340G>A | CA326762 | CFTR | c.2173G>A (p.Glu725Lys) c.*1887G>A (n.*1887G>A) c.1990G>A (p.Glu664Lys) c.*473G>A (n.*473G>A) c.*1997G>A (n.*1997G>A) c.1747G>A (p.Glu583Lys) c.1402-10486G>A (n.1402-10486G>A) c.2083G>A (p.Glu695Lys) c.2263G>A (p.Glu755Lys) c.1930G>A (p.Glu644Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.117592340G>C | CA368980212 | CFTR | c.2173G>C (p.Glu725Gln) c.*1887G>C (n.*1887G>C) c.1990G>C (p.Glu664Gln) c.*473G>C (n.*473G>C) c.*1997G>C (n.*1997G>C) c.1747G>C (p.Glu583Gln) c.1402-10486G>C (n.1402-10486G>C) c.2083G>C (p.Glu695Gln) c.2263G>C (p.Glu755Gln) c.1930G>C (p.Glu644Gln) | gnomAD v4 |
7 | g.117592340G= | CA1737394938 | CFTR | c.2173G= (p.Glu725=) c.*1887G= (n.*1887G=) c.1990G= (p.Glu664=) c.*473G= (n.*473G=) c.*1997G= (n.*1997G=) c.1747G= (p.Glu583=) c.1402-10486G= (n.1402-10486G=) c.2083G= (p.Glu695=) c.2263G= (p.Glu755=) c.1930G= (p.Glu644=) | |
7 | g.117592340G>T | CA368980215 | CFTR | c.2173G>T (p.Glu725Ter) c.*1887G>T (n.*1887G>T) c.1990G>T (p.Glu664Ter) c.*473G>T (n.*473G>T) c.*1997G>T (n.*1997G>T) c.1747G>T (p.Glu583Ter) c.1402-10486G>T (n.1402-10486G>T) c.2083G>T (p.Glu695Ter) c.2263G>T (p.Glu755Ter) c.1930G>T (p.Glu644Ter) | |
7 | g.117592341A= | CA1737394946 | CFTR | c.2174A= (p.Glu725=) c.*1888A= (n.*1888A=) c.1991A= (p.Glu664=) c.*474A= (n.*474A=) c.*1998A= (n.*1998A=) c.1748A= (p.Glu583=) c.1402-10485A= (n.1402-10485A=) c.2084A= (p.Glu695=) c.2264A= (p.Glu755=) c.1931A= (p.Glu644=) | |
7 | g.117592341A>C | CA368980221 | CFTR | c.2174A>C (p.Glu725Ala) c.*1888A>C (n.*1888A>C) c.1991A>C (p.Glu664Ala) c.*474A>C (n.*474A>C) c.*1998A>C (n.*1998A>C) c.1748A>C (p.Glu583Ala) c.1402-10485A>C (n.1402-10485A>C) c.2084A>C (p.Glu695Ala) c.2264A>C (p.Glu755Ala) c.1931A>C (p.Glu644Ala) | |
7 | g.117592341A>G | CA368980222 | CFTR | c.2174A>G (p.Glu725Gly) c.*1888A>G (n.*1888A>G) c.1991A>G (p.Glu664Gly) c.*474A>G (n.*474A>G) c.*1998A>G (n.*1998A>G) c.1748A>G (p.Glu583Gly) c.1402-10485A>G (n.1402-10485A>G) c.2084A>G (p.Glu695Gly) c.2264A>G (p.Glu755Gly) c.1931A>G (p.Glu644Gly) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592341A>T | CA368980223 | CFTR | c.2174A>T (p.Glu725Val) c.*1888A>T (n.*1888A>T) c.1991A>T (p.Glu664Val) c.*474A>T (n.*474A>T) c.*1998A>T (n.*1998A>T) c.1748A>T (p.Glu583Val) c.1402-10485A>T (n.1402-10485A>T) c.2084A>T (p.Glu695Val) c.2264A>T (p.Glu755Val) c.1931A>T (p.Glu644Val) | gnomAD v4 |
7 | g.117592342dup | CA325575 | CFTR | c.2175dup (p.Glu726ArgfsTer4) c.*1889dup (n.*1889dup) c.1992dup (p.Glu665ArgfsTer4) c.*475dup (n.*475dup) c.*1999dup (n.*1999dup) c.1749dup (p.Glu584ArgfsTer4) c.1402-10484dup (n.1402-10484dup) c.2085dup (p.Glu696ArgfsTer4) c.2265dup (p.Glu756ArgfsTer4) c.1932dup (p.Glu645ArgfsTer4) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592342A>C | CA368980225 | CFTR | c.2175A>C (p.Glu725Asp) c.*1889A>C (n.*1889A>C) c.1992A>C (p.Glu664Asp) c.*475A>C (n.*475A>C) c.*1999A>C (n.*1999A>C) c.1749A>C (p.Glu583Asp) c.1402-10484A>C (n.1402-10484A>C) c.2085A>C (p.Glu695Asp) c.2265A>C (p.Glu755Asp) c.1932A>C (p.Glu644Asp) | |
7 | g.117592342A>G | CA457449396 | CFTR | c.2175A>G (p.Glu725=) c.*1889A>G (n.*1889A>G) c.1992A>G (p.Glu664=) c.*475A>G (n.*475A>G) c.*1999A>G (n.*1999A>G) c.1749A>G (p.Glu583=) c.1402-10484A>G (n.1402-10484A>G) c.2085A>G (p.Glu695=) c.2265A>G (p.Glu755=) c.1932A>G (p.Glu644=) | |
7 | g.117592342A>T | CA368980227 | CFTR | c.2175A>T (p.Glu725Asp) c.*1889A>T (n.*1889A>T) c.1992A>T (p.Glu664Asp) c.*475A>T (n.*475A>T) c.*1999A>T (n.*1999A>T) c.1749A>T (p.Glu583Asp) c.1402-10484A>T (n.1402-10484A>T) c.2085A>T (p.Glu695Asp) c.2265A>T (p.Glu755Asp) c.1932A>T (p.Glu644Asp) | |
7 | g.117592343G>A | CA368980236 | CFTR | c.2176G>A (p.Glu726Lys) c.*1890G>A (n.*1890G>A) c.1993G>A (p.Glu665Lys) c.*476G>A (n.*476G>A) c.*2000G>A (n.*2000G>A) c.1750G>A (p.Glu584Lys) c.1402-10483G>A (n.1402-10483G>A) c.2086G>A (p.Glu696Lys) c.2266G>A (p.Glu756Lys) c.1933G>A (p.Glu645Lys) | |
7 | g.117592343G>C | CA368980234 | CFTR | c.2176G>C (p.Glu726Gln) c.*1890G>C (n.*1890G>C) c.1993G>C (p.Glu665Gln) c.*476G>C (n.*476G>C) c.*2000G>C (n.*2000G>C) c.1750G>C (p.Glu584Gln) c.1402-10483G>C (n.1402-10483G>C) c.2086G>C (p.Glu696Gln) c.2266G>C (p.Glu756Gln) c.1933G>C (p.Glu645Gln) | |
7 | g.117592343G>T | CA368980232 | CFTR | c.2176G>T (p.Glu726Ter) c.*1890G>T (n.*1890G>T) c.1993G>T (p.Glu665Ter) c.*476G>T (n.*476G>T) c.*2000G>T (n.*2000G>T) c.1750G>T (p.Glu584Ter) c.1402-10483G>T (n.1402-10483G>T) c.2086G>T (p.Glu696Ter) c.2266G>T (p.Glu756Ter) c.1933G>T (p.Glu645Ter) | |
7 | g.117592344A>C | CA368980242 | CFTR | c.2177A>C (p.Glu726Ala) c.*1891A>C (n.*1891A>C) c.1994A>C (p.Glu665Ala) c.*477A>C (n.*477A>C) c.*2001A>C (n.*2001A>C) c.1751A>C (p.Glu584Ala) c.1402-10482A>C (n.1402-10482A>C) c.2087A>C (p.Glu696Ala) c.2267A>C (p.Glu756Ala) c.1934A>C (p.Glu645Ala) | |
7 | g.117592344A>G | CA368980245 | CFTR | c.2177A>G (p.Glu726Gly) c.*1891A>G (n.*1891A>G) c.1994A>G (p.Glu665Gly) c.*477A>G (n.*477A>G) c.*2001A>G (n.*2001A>G) c.1751A>G (p.Glu584Gly) c.1402-10482A>G (n.1402-10482A>G) c.2087A>G (p.Glu696Gly) c.2267A>G (p.Glu756Gly) c.1934A>G (p.Glu645Gly) | |
7 | g.117592344A>T | CA368980249 | CFTR | c.2177A>T (p.Glu726Val) c.*1891A>T (n.*1891A>T) c.1994A>T (p.Glu665Val) c.*477A>T (n.*477A>T) c.*2001A>T (n.*2001A>T) c.1751A>T (p.Glu584Val) c.1402-10482A>T (n.1402-10482A>T) c.2087A>T (p.Glu696Val) c.2267A>T (p.Glu756Val) c.1934A>T (p.Glu645Val) | |
7 | g.117592344dup | CA368980239 | CFTR | c.2177dup (p.Asp727GlyfsTer3) c.*1891dup (n.*1891dup) c.1994dup (p.Asp666GlyfsTer3) c.*477dup (n.*477dup) c.*2001dup (n.*2001dup) c.1751dup (p.Asp585GlyfsTer3) c.1402-10482dup (n.1402-10482dup) c.2087dup (p.Asp697GlyfsTer3) c.2267dup (p.Asp757GlyfsTer3) c.1934dup (p.Asp646GlyfsTer3) | |
7 | g.117592345G>A | CA457449397 | CFTR | c.2178G>A (p.Glu726=) c.*1892G>A (n.*1892G>A) c.1995G>A (p.Glu665=) c.*478G>A (n.*478G>A) c.*2002G>A (n.*2002G>A) c.1752G>A (p.Glu584=) c.1402-10481G>A (n.1402-10481G>A) c.2088G>A (p.Glu696=) c.2268G>A (p.Glu756=) c.1935G>A (p.Glu645=) | ClinVar |
7 | g.117592345G>C | CA368980252 | CFTR | c.2178G>C (p.Glu726Asp) c.*1892G>C (n.*1892G>C) c.1995G>C (p.Glu665Asp) c.*478G>C (n.*478G>C) c.*2002G>C (n.*2002G>C) c.1752G>C (p.Glu584Asp) c.1402-10481G>C (n.1402-10481G>C) c.2088G>C (p.Glu696Asp) c.2268G>C (p.Glu756Asp) c.1935G>C (p.Glu645Asp) | gnomAD v4 |
7 | g.117592345G>T | CA368980254 | CFTR | c.2178G>T (p.Glu726Asp) c.*1892G>T (n.*1892G>T) c.1995G>T (p.Glu665Asp) c.*478G>T (n.*478G>T) c.*2002G>T (n.*2002G>T) c.1752G>T (p.Glu584Asp) c.1402-10481G>T (n.1402-10481G>T) c.2088G>T (p.Glu696Asp) c.2268G>T (p.Glu756Asp) c.1935G>T (p.Glu645Asp) | |
7 | g.117592346G>A | CA368980258 | CFTR | c.2179G>A (p.Asp727Asn) c.*1893G>A (n.*1893G>A) c.1996G>A (p.Asp666Asn) c.*479G>A (n.*479G>A) c.*2003G>A (n.*2003G>A) c.1753G>A (p.Asp585Asn) c.1402-10480G>A (n.1402-10480G>A) c.2089G>A (p.Asp697Asn) c.2269G>A (p.Asp757Asn) c.1936G>A (p.Asp646Asn) | |
7 | g.117592346G>C | CA368980263 | CFTR | c.2179G>C (p.Asp727His) c.*1893G>C (n.*1893G>C) c.1996G>C (p.Asp666His) c.*479G>C (n.*479G>C) c.*2003G>C (n.*2003G>C) c.1753G>C (p.Asp585His) c.1402-10480G>C (n.1402-10480G>C) c.2089G>C (p.Asp697His) c.2269G>C (p.Asp757His) c.1936G>C (p.Asp646His) | |
7 | g.117592346G= | CA1737394952 | CFTR | c.2179G= (p.Asp727=) c.*1893G= (n.*1893G=) c.1996G= (p.Asp666=) c.*479G= (n.*479G=) c.*2003G= (n.*2003G=) c.1753G= (p.Asp585=) c.1402-10480G= (n.1402-10480G=) c.2089G= (p.Asp697=) c.2269G= (p.Asp757=) c.1936G= (p.Asp646=) | |
7 | g.117592346G>T | CA368980267 | CFTR | c.2179G>T (p.Asp727Tyr) c.*1893G>T (n.*1893G>T) c.1996G>T (p.Asp666Tyr) c.*479G>T (n.*479G>T) c.*2003G>T (n.*2003G>T) c.1753G>T (p.Asp585Tyr) c.1402-10480G>T (n.1402-10480G>T) c.2089G>T (p.Asp697Tyr) c.2269G>T (p.Asp757Tyr) c.1936G>T (p.Asp646Tyr) | ClinVar dbSNP gnomAD v4 |
7 | g.117592347A= | CA1737394956 | CFTR | c.2180A= (p.Asp727=) c.*1894A= (n.*1894A=) c.1997A= (p.Asp666=) c.*480A= (n.*480A=) c.*2004A= (n.*2004A=) c.1754A= (p.Asp585=) c.1402-10479A= (n.1402-10479A=) c.2090A= (p.Asp697=) c.2270A= (p.Asp757=) c.1937A= (p.Asp646=) | |
7 | g.117592347A>C | CA368980272 | CFTR | c.2180A>C (p.Asp727Ala) c.*1894A>C (n.*1894A>C) c.1997A>C (p.Asp666Ala) c.*480A>C (n.*480A>C) c.*2004A>C (n.*2004A>C) c.1754A>C (p.Asp585Ala) c.1402-10479A>C (n.1402-10479A>C) c.2090A>C (p.Asp697Ala) c.2270A>C (p.Asp757Ala) c.1937A>C (p.Asp646Ala) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592347A>G | CA368980274 | CFTR | c.2180A>G (p.Asp727Gly) c.*1894A>G (n.*1894A>G) c.1997A>G (p.Asp666Gly) c.*480A>G (n.*480A>G) c.*2004A>G (n.*2004A>G) c.1754A>G (p.Asp585Gly) c.1402-10479A>G (n.1402-10479A>G) c.2090A>G (p.Asp697Gly) c.2270A>G (p.Asp757Gly) c.1937A>G (p.Asp646Gly) | |
7 | g.117592347A>T | CA368980276 | CFTR | c.2180A>T (p.Asp727Val) c.*1894A>T (n.*1894A>T) c.1997A>T (p.Asp666Val) c.*480A>T (n.*480A>T) c.*2004A>T (n.*2004A>T) c.1754A>T (p.Asp585Val) c.1402-10479A>T (n.1402-10479A>T) c.2090A>T (p.Asp697Val) c.2270A>T (p.Asp757Val) c.1937A>T (p.Asp646Val) | |
7 | g.117592348T>A | CA368980279 | CFTR | c.2181T>A (p.Asp727Glu) c.*1895T>A (n.*1895T>A) c.1998T>A (p.Asp666Glu) c.*481T>A (n.*481T>A) c.*2005T>A (n.*2005T>A) c.1755T>A (p.Asp585Glu) c.1402-10478T>A (n.1402-10478T>A) c.2091T>A (p.Asp697Glu) c.2271T>A (p.Asp757Glu) c.1938T>A (p.Asp646Glu) | |
7 | g.117592348T>C | CA457449398 | CFTR | c.2181T>C (p.Asp727=) c.*1895T>C (n.*1895T>C) c.1998T>C (p.Asp666=) c.*481T>C (n.*481T>C) c.*2005T>C (n.*2005T>C) c.1755T>C (p.Asp585=) c.1402-10478T>C (n.1402-10478T>C) c.2091T>C (p.Asp697=) c.2271T>C (p.Asp757=) c.1938T>C (p.Asp646=) | ClinVar dbSNP gnomAD v4 |
7 | g.117592348T>G | CA368980282 | CFTR | c.2181T>G (p.Asp727Glu) c.*1895T>G (n.*1895T>G) c.1998T>G (p.Asp666Glu) c.*481T>G (n.*481T>G) c.*2005T>G (n.*2005T>G) c.1755T>G (p.Asp585Glu) c.1402-10478T>G (n.1402-10478T>G) c.2091T>G (p.Asp697Glu) c.2271T>G (p.Asp757Glu) c.1938T>G (p.Asp646Glu) | |
7 | g.117592348T= | CA1737394958 | CFTR | c.2181T= (p.Asp727=) c.*1895T= (n.*1895T=) c.1998T= (p.Asp666=) c.*481T= (n.*481T=) c.*2005T= (n.*2005T=) c.1755T= (p.Asp585=) c.1402-10478T= (n.1402-10478T=) c.2091T= (p.Asp697=) c.2271T= (p.Asp757=) c.1938T= (p.Asp646=) | |
7 | g.117592349T>A | CA368980285 | CFTR | c.2182T>A (p.Ser728Thr) c.*1896T>A (n.*1896T>A) c.1999T>A (p.Ser667Thr) c.*482T>A (n.*482T>A) c.*2006T>A (n.*2006T>A) c.1756T>A (p.Ser586Thr) c.1402-10477T>A (n.1402-10477T>A) c.2092T>A (p.Ser698Thr) c.2272T>A (p.Ser758Thr) c.1939T>A (p.Ser647Thr) | |
7 | g.117592349T>C | CA368980289 | CFTR | c.2182T>C (p.Ser728Pro) c.*1896T>C (n.*1896T>C) c.1999T>C (p.Ser667Pro) c.*482T>C (n.*482T>C) c.*2006T>C (n.*2006T>C) c.1756T>C (p.Ser586Pro) c.1402-10477T>C (n.1402-10477T>C) c.2092T>C (p.Ser698Pro) c.2272T>C (p.Ser758Pro) c.1939T>C (p.Ser647Pro) | gnomAD v4 |
7 | g.117592349T>G | CA368980292 | CFTR | c.2182T>G (p.Ser728Ala) c.*1896T>G (n.*1896T>G) c.1999T>G (p.Ser667Ala) c.*482T>G (n.*482T>G) c.*2006T>G (n.*2006T>G) c.1756T>G (p.Ser586Ala) c.1402-10477T>G (n.1402-10477T>G) c.2092T>G (p.Ser698Ala) c.2272T>G (p.Ser758Ala) c.1939T>G (p.Ser647Ala) | gnomAD v4 |
7 | g.117592350C>A | CA368980301 | CFTR | c.2183C>A (p.Ser728Tyr) c.*1897C>A (n.*1897C>A) c.2000C>A (p.Ser667Tyr) c.*483C>A (n.*483C>A) c.*2007C>A (n.*2007C>A) c.1757C>A (p.Ser586Tyr) c.1402-10476C>A (n.1402-10476C>A) c.2093C>A (p.Ser698Tyr) c.2273C>A (p.Ser758Tyr) c.1940C>A (p.Ser647Tyr) | |
7 | g.117592350C= | CA1737394962 | CFTR | c.2183C= (p.Ser728=) c.*1897C= (n.*1897C=) c.2000C= (p.Ser667=) c.*483C= (n.*483C=) c.*2007C= (n.*2007C=) c.1757C= (p.Ser586=) c.1402-10476C= (n.1402-10476C=) c.2093C= (p.Ser698=) c.2273C= (p.Ser758=) c.1940C= (p.Ser647=) | |
7 | g.117592350C>G | CA368980303 | CFTR | c.2183C>G (p.Ser728Cys) c.*1897C>G (n.*1897C>G) c.2000C>G (p.Ser667Cys) c.*483C>G (n.*483C>G) c.*2007C>G (n.*2007C>G) c.1757C>G (p.Ser586Cys) c.1402-10476C>G (n.1402-10476C>G) c.2093C>G (p.Ser698Cys) c.2273C>G (p.Ser758Cys) c.1940C>G (p.Ser647Cys) | |
7 | g.117592350C>T | CA368980306 | CFTR | c.2183C>T (p.Ser728Phe) c.*1897C>T (n.*1897C>T) c.2000C>T (p.Ser667Phe) c.*483C>T (n.*483C>T) c.*2007C>T (n.*2007C>T) c.1757C>T (p.Ser586Phe) c.1402-10476C>T (n.1402-10476C>T) c.2093C>T (p.Ser698Phe) c.2273C>T (p.Ser758Phe) c.1940C>T (p.Ser647Phe) | ClinVar dbSNP |
7 | g.117592351T>A | CA457449399 | CFTR | c.2184T>A (p.Ser728=) c.*1898T>A (n.*1898T>A) c.2001T>A (p.Ser667=) c.*484T>A (n.*484T>A) c.*2008T>A (n.*2008T>A) c.1758T>A (p.Ser586=) c.1402-10475T>A (n.1402-10475T>A) c.2094T>A (p.Ser698=) c.2274T>A (p.Ser758=) c.1941T>A (p.Ser647=) | |
7 | g.117592351T>C | CA457449400 | CFTR | c.2184T>C (p.Ser728=) c.*1898T>C (n.*1898T>C) c.2001T>C (p.Ser667=) c.*484T>C (n.*484T>C) c.*2008T>C (n.*2008T>C) c.1758T>C (p.Ser586=) c.1402-10475T>C (n.1402-10475T>C) c.2094T>C (p.Ser698=) c.2274T>C (p.Ser758=) c.1941T>C (p.Ser647=) | |
7 | g.117592351T>G | CA4451151 | CFTR | c.2184T>G (p.Ser728=) c.*1898T>G (n.*1898T>G) c.2001T>G (p.Ser667=) c.*484T>G (n.*484T>G) c.*2008T>G (n.*2008T>G) c.1758T>G (p.Ser586=) c.1402-10475T>G (n.1402-10475T>G) c.2094T>G (p.Ser698=) c.2274T>G (p.Ser758=) c.1941T>G (p.Ser647=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592351T= | CA1737394967 | CFTR | c.2184T= (p.Ser728=) c.*1898T= (n.*1898T=) c.2001T= (p.Ser667=) c.*484T= (n.*484T=) c.*2008T= (n.*2008T=) c.1758T= (p.Ser586=) c.1402-10475T= (n.1402-10475T=) c.2094T= (p.Ser698=) c.2274T= (p.Ser758=) c.1941T= (p.Ser647=) | |
7 | g.117592351_117592352insA | CA645509178 | CFTR | c.2184_2185insA (p.Asp729ArgfsTer2) c.*1898_*1899insA (n.*1898_*1899insA) c.2001_2002insA (p.Asp668ArgfsTer2) c.*484_*485insA (n.*484_*485insA) c.*2008_*2009insA (n.*2008_*2009insA) c.1758_1759insA (p.Asp587ArgfsTer2) c.1402-10475_1402-10474insA (n.1402-10475_1402-10474insA) c.2094_2095insA (p.Asp699ArgfsTer2) c.2274_2275insA (p.Asp759ArgfsTer2) c.1941_1942insA (p.Asp648ArgfsTer2) | ClinVar dbSNP |
7 | g.117592352G>A | CA368980313 | CFTR | c.2185G>A (p.Asp729Asn) c.*1899G>A (n.*1899G>A) c.2002G>A (p.Asp668Asn) c.*485G>A (n.*485G>A) c.*2009G>A (n.*2009G>A) c.1759G>A (p.Asp587Asn) c.1402-10474G>A (n.1402-10474G>A) c.2095G>A (p.Asp699Asn) c.2275G>A (p.Asp759Asn) c.1942G>A (p.Asp648Asn) | |
7 | g.117592352G>C | CA368980315 | CFTR | c.2185G>C (p.Asp729His) c.*1899G>C (n.*1899G>C) c.2002G>C (p.Asp668His) c.*485G>C (n.*485G>C) c.*2009G>C (n.*2009G>C) c.1759G>C (p.Asp587His) c.1402-10474G>C (n.1402-10474G>C) c.2095G>C (p.Asp699His) c.2275G>C (p.Asp759His) c.1942G>C (p.Asp648His) | ClinVar |
7 | g.117592352G>T | CA368980318 | CFTR | c.2185G>T (p.Asp729Tyr) c.*1899G>T (n.*1899G>T) c.2002G>T (p.Asp668Tyr) c.*485G>T (n.*485G>T) c.*2009G>T (n.*2009G>T) c.1759G>T (p.Asp587Tyr) c.1402-10474G>T (n.1402-10474G>T) c.2095G>T (p.Asp699Tyr) c.2275G>T (p.Asp759Tyr) c.1942G>T (p.Asp648Tyr) | |
7 | g.117592353A>C | CA368980320 | CFTR | c.2186A>C (p.Asp729Ala) c.*1900A>C (n.*1900A>C) c.2003A>C (p.Asp668Ala) c.*486A>C (n.*486A>C) c.*2010A>C (n.*2010A>C) c.1760A>C (p.Asp587Ala) c.1402-10473A>C (n.1402-10473A>C) c.2096A>C (p.Asp699Ala) c.2276A>C (p.Asp759Ala) c.1943A>C (p.Asp648Ala) | ClinVar |
7 | g.117592353A>G | CA368980321 | CFTR | c.2186A>G (p.Asp729Gly) c.*1900A>G (n.*1900A>G) c.2003A>G (p.Asp668Gly) c.*486A>G (n.*486A>G) c.*2010A>G (n.*2010A>G) c.1760A>G (p.Asp587Gly) c.1402-10473A>G (n.1402-10473A>G) c.2096A>G (p.Asp699Gly) c.2276A>G (p.Asp759Gly) c.1943A>G (p.Asp648Gly) | ClinVar |
7 | g.117592353A>T | CA368980324 | CFTR | c.2186A>T (p.Asp729Val) c.*1900A>T (n.*1900A>T) c.2003A>T (p.Asp668Val) c.*486A>T (n.*486A>T) c.*2010A>T (n.*2010A>T) c.1760A>T (p.Asp587Val) c.1402-10473A>T (n.1402-10473A>T) c.2096A>T (p.Asp699Val) c.2276A>T (p.Asp759Val) c.1943A>T (p.Asp648Val) | |
7 | g.117592354T>A | CA368980325 | CFTR | c.2187T>A (p.Asp729Glu) c.*1901T>A (n.*1901T>A) c.2004T>A (p.Asp668Glu) c.*487T>A (n.*487T>A) c.*2011T>A (n.*2011T>A) c.1761T>A (p.Asp587Glu) c.1402-10472T>A (n.1402-10472T>A) c.2097T>A (p.Asp699Glu) c.2277T>A (p.Asp759Glu) c.1944T>A (p.Asp648Glu) | |
7 | g.117592354T>C | CA457449404 | CFTR | c.2187T>C (p.Asp729=) c.*1901T>C (n.*1901T>C) c.2004T>C (p.Asp668=) c.*487T>C (n.*487T>C) c.*2011T>C (n.*2011T>C) c.1761T>C (p.Asp587=) c.1402-10472T>C (n.1402-10472T>C) c.2097T>C (p.Asp699=) c.2277T>C (p.Asp759=) c.1944T>C (p.Asp648=) | ClinVar |
7 | g.117592354T>G | CA368980327 | CFTR | c.2187T>G (p.Asp729Glu) c.*1901T>G (n.*1901T>G) c.2004T>G (p.Asp668Glu) c.*487T>G (n.*487T>G) c.*2011T>G (n.*2011T>G) c.1761T>G (p.Asp587Glu) c.1402-10472T>G (n.1402-10472T>G) c.2097T>G (p.Asp699Glu) c.2277T>G (p.Asp759Glu) c.1944T>G (p.Asp648Glu) | |
7 | g.117592355G>A | CA368980329 | CFTR | c.2188G>A (p.Glu730Lys) c.*1902G>A (n.*1902G>A) c.2005G>A (p.Glu669Lys) c.*488G>A (n.*488G>A) c.*2012G>A (n.*2012G>A) c.1762G>A (p.Glu588Lys) c.1402-10471G>A (n.1402-10471G>A) c.2098G>A (p.Glu700Lys) c.2278G>A (p.Glu760Lys) c.1945G>A (p.Glu649Lys) | ClinVar |
7 | g.117592355G>C | CA368980331 | CFTR | c.2188G>C (p.Glu730Gln) c.*1902G>C (n.*1902G>C) c.2005G>C (p.Glu669Gln) c.*488G>C (n.*488G>C) c.*2012G>C (n.*2012G>C) c.1762G>C (p.Glu588Gln) c.1402-10471G>C (n.1402-10471G>C) c.2098G>C (p.Glu700Gln) c.2278G>C (p.Glu760Gln) c.1945G>C (p.Glu649Gln) | |
7 | g.117592355G= | CA1737394976 | CFTR | c.2188G= (p.Glu730=) c.*1902G= (n.*1902G=) c.2005G= (p.Glu669=) c.*488G= (n.*488G=) c.*2012G= (n.*2012G=) c.1762G= (p.Glu588=) c.1402-10471G= (n.1402-10471G=) c.2098G= (p.Glu700=) c.2278G= (p.Glu760=) c.1945G= (p.Glu649=) | |
7 | g.117592355G>T | CA326765 | CFTR | c.2188G>T (p.Glu730Ter) c.*1902G>T (n.*1902G>T) c.2005G>T (p.Glu669Ter) c.*488G>T (n.*488G>T) c.*2012G>T (n.*2012G>T) c.1762G>T (p.Glu588Ter) c.1402-10471G>T (n.1402-10471G>T) c.2098G>T (p.Glu700Ter) c.2278G>T (p.Glu760Ter) c.1945G>T (p.Glu649Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.117592356A>C | CA368980334 | CFTR | c.2189A>C (p.Glu730Ala) c.*1903A>C (n.*1903A>C) c.2006A>C (p.Glu669Ala) c.*489A>C (n.*489A>C) c.*2013A>C (n.*2013A>C) c.1763A>C (p.Glu588Ala) c.1402-10470A>C (n.1402-10470A>C) c.2099A>C (p.Glu700Ala) c.2279A>C (p.Glu760Ala) c.1946A>C (p.Glu649Ala) | ClinVar |
7 | g.117592356A>G | CA368980335 | CFTR | c.2189A>G (p.Glu730Gly) c.*1903A>G (n.*1903A>G) c.2006A>G (p.Glu669Gly) c.*489A>G (n.*489A>G) c.*2013A>G (n.*2013A>G) c.1763A>G (p.Glu588Gly) c.1402-10470A>G (n.1402-10470A>G) c.2099A>G (p.Glu700Gly) c.2279A>G (p.Glu760Gly) c.1946A>G (p.Glu649Gly) | |
7 | g.117592356A>T | CA368980336 | CFTR | c.2189A>T (p.Glu730Val) c.*1903A>T (n.*1903A>T) c.2006A>T (p.Glu669Val) c.*489A>T (n.*489A>T) c.*2013A>T (n.*2013A>T) c.1763A>T (p.Glu588Val) c.1402-10470A>T (n.1402-10470A>T) c.2099A>T (p.Glu700Val) c.2279A>T (p.Glu760Val) c.1946A>T (p.Glu649Val) | |
7 | g.117592357del | CA2695208512 | CFTR | c.2190del (p.Glu730AspfsTer3) c.*1904del (n.*1904del) c.2007del (p.Glu669AspfsTer3) c.*490del (n.*490del) c.*2014del (n.*2014del) c.1764del (p.Glu588AspfsTer3) c.1402-10469del (n.1402-10469del) c.2100del (p.Glu700AspfsTer3) c.2280del (p.Glu760AspfsTer3) c.1947del (p.Glu649AspfsTer3) | |
7 | g.117592357G>A | CA457449409 | CFTR | c.2190G>A (p.Glu730=) c.*1904G>A (n.*1904G>A) c.2007G>A (p.Glu669=) c.*490G>A (n.*490G>A) c.*2014G>A (n.*2014G>A) c.1764G>A (p.Glu588=) c.1402-10469G>A (n.1402-10469G>A) c.2100G>A (p.Glu700=) c.2280G>A (p.Glu760=) c.1947G>A (p.Glu649=) | ClinVar |
7 | g.117592357G>C | CA368980337 | CFTR | c.2190G>C (p.Glu730Asp) c.*1904G>C (n.*1904G>C) c.2007G>C (p.Glu669Asp) c.*490G>C (n.*490G>C) c.*2014G>C (n.*2014G>C) c.1764G>C (p.Glu588Asp) c.1402-10469G>C (n.1402-10469G>C) c.2100G>C (p.Glu700Asp) c.2280G>C (p.Glu760Asp) c.1947G>C (p.Glu649Asp) | |
7 | g.117592357G>T | CA368980338 | CFTR | c.2190G>T (p.Glu730Asp) c.*1904G>T (n.*1904G>T) c.2007G>T (p.Glu669Asp) c.*490G>T (n.*490G>T) c.*2014G>T (n.*2014G>T) c.1764G>T (p.Glu588Asp) c.1402-10469G>T (n.1402-10469G>T) c.2100G>T (p.Glu700Asp) c.2280G>T (p.Glu760Asp) c.1947G>T (p.Glu649Asp) | |
7 | g.117592358C>A | CA368980339 | CFTR | c.2191C>A (p.Pro731Thr) c.*1905C>A (n.*1905C>A) c.2008C>A (p.Pro670Thr) c.*491C>A (n.*491C>A) c.*2015C>A (n.*2015C>A) c.1765C>A (p.Pro589Thr) c.1402-10468C>A (n.1402-10468C>A) c.2101C>A (p.Pro701Thr) c.2281C>A (p.Pro761Thr) c.1948C>A (p.Pro650Thr) | |
7 | g.117592358C= | CA1737394983 | CFTR | c.2191C= (p.Pro731=) c.*1905C= (n.*1905C=) c.2008C= (p.Pro670=) c.*491C= (n.*491C=) c.*2015C= (n.*2015C=) c.1765C= (p.Pro589=) c.1402-10468C= (n.1402-10468C=) c.2101C= (p.Pro701=) c.2281C= (p.Pro761=) c.1948C= (p.Pro650=) | |
7 | g.117592358C>G | CA368980340 | CFTR | c.2191C>G (p.Pro731Ala) c.*1905C>G (n.*1905C>G) c.2008C>G (p.Pro670Ala) c.*491C>G (n.*491C>G) c.*2015C>G (n.*2015C>G) c.1765C>G (p.Pro589Ala) c.1402-10468C>G (n.1402-10468C>G) c.2101C>G (p.Pro701Ala) c.2281C>G (p.Pro761Ala) c.1948C>G (p.Pro650Ala) | |
7 | g.117592358C>T | CA368980341 | CFTR | c.2191C>T (p.Pro731Ser) c.*1905C>T (n.*1905C>T) c.2008C>T (p.Pro670Ser) c.*491C>T (n.*491C>T) c.*2015C>T (n.*2015C>T) c.1765C>T (p.Pro589Ser) c.1402-10468C>T (n.1402-10468C>T) c.2101C>T (p.Pro701Ser) c.2281C>T (p.Pro761Ser) c.1948C>T (p.Pro650Ser) | ClinVar dbSNP |
7 | g.117592359C>A | CA368980343 | CFTR | c.2192C>A (p.Pro731His) c.*1906C>A (n.*1906C>A) c.2009C>A (p.Pro670His) c.*492C>A (n.*492C>A) c.*2016C>A (n.*2016C>A) c.1766C>A (p.Pro589His) c.1402-10467C>A (n.1402-10467C>A) c.2102C>A (p.Pro701His) c.2282C>A (p.Pro761His) c.1949C>A (p.Pro650His) | |
7 | g.117592359C= | CA1737394988 | CFTR | c.2192C= (p.Pro731=) c.*1906C= (n.*1906C=) c.2009C= (p.Pro670=) c.*492C= (n.*492C=) c.*2016C= (n.*2016C=) c.1766C= (p.Pro589=) c.1402-10467C= (n.1402-10467C=) c.2102C= (p.Pro701=) c.2282C= (p.Pro761=) c.1949C= (p.Pro650=) | |
7 | g.117592359C>G | CA368980342 | CFTR | c.2192C>G (p.Pro731Arg) c.*1906C>G (n.*1906C>G) c.2009C>G (p.Pro670Arg) c.*492C>G (n.*492C>G) c.*2016C>G (n.*2016C>G) c.1766C>G (p.Pro589Arg) c.1402-10467C>G (n.1402-10467C>G) c.2102C>G (p.Pro701Arg) c.2282C>G (p.Pro761Arg) c.1949C>G (p.Pro650Arg) | ClinVar dbSNP |
7 | g.117592359C>T | CA4451152 | CFTR | c.2192C>T (p.Pro731Leu) c.*1906C>T (n.*1906C>T) c.2009C>T (p.Pro670Leu) c.*492C>T (n.*492C>T) c.*2016C>T (n.*2016C>T) c.1766C>T (p.Pro589Leu) c.1402-10467C>T (n.1402-10467C>T) c.2102C>T (p.Pro701Leu) c.2282C>T (p.Pro761Leu) c.1949C>T (p.Pro650Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592360T>A | CA457449413 | CFTR | c.2193T>A (p.Pro731=) c.*1907T>A (n.*1907T>A) c.2010T>A (p.Pro670=) c.*493T>A (n.*493T>A) c.*2017T>A (n.*2017T>A) c.1767T>A (p.Pro589=) c.1402-10466T>A (n.1402-10466T>A) c.2103T>A (p.Pro701=) c.2283T>A (p.Pro761=) c.1950T>A (p.Pro650=) | |
7 | g.117592360T>C | CA10605877 | CFTR | c.2193T>C (p.Pro731=) c.*1907T>C (n.*1907T>C) c.2010T>C (p.Pro670=) c.*493T>C (n.*493T>C) c.*2017T>C (n.*2017T>C) c.1767T>C (p.Pro589=) c.1402-10466T>C (n.1402-10466T>C) c.2103T>C (p.Pro701=) c.2283T>C (p.Pro761=) c.1950T>C (p.Pro650=) | ClinVar dbSNP |
7 | g.117592360T>G | CA457449414 | CFTR | c.2193T>G (p.Pro731=) c.*1907T>G (n.*1907T>G) c.2010T>G (p.Pro670=) c.*493T>G (n.*493T>G) c.*2017T>G (n.*2017T>G) c.1767T>G (p.Pro589=) c.1402-10466T>G (n.1402-10466T>G) c.2103T>G (p.Pro701=) c.2283T>G (p.Pro761=) c.1950T>G (p.Pro650=) | |
7 | g.117592360T= | CA1737394991 | CFTR | c.2193T= (p.Pro731=) c.*1907T= (n.*1907T=) c.2010T= (p.Pro670=) c.*493T= (n.*493T=) c.*2017T= (n.*2017T=) c.1767T= (p.Pro589=) c.1402-10466T= (n.1402-10466T=) c.2103T= (p.Pro701=) c.2283T= (p.Pro761=) c.1950T= (p.Pro650=) | |
7 | g.117592361T>A | CA368980345 | CFTR | c.2194T>A (p.Leu732Ile) c.*1908T>A (n.*1908T>A) c.2011T>A (p.Leu671Ile) c.*494T>A (n.*494T>A) c.*2018T>A (n.*2018T>A) c.1768T>A (p.Leu590Ile) c.1402-10465T>A (n.1402-10465T>A) c.2104T>A (p.Leu702Ile) c.2284T>A (p.Leu762Ile) c.1951T>A (p.Leu651Ile) | |
7 | g.117592361T>C | CA457449415 | CFTR | c.2194T>C (p.Leu732=) c.*1908T>C (n.*1908T>C) c.2011T>C (p.Leu671=) c.*494T>C (n.*494T>C) c.*2018T>C (n.*2018T>C) c.1768T>C (p.Leu590=) c.1402-10465T>C (n.1402-10465T>C) c.2104T>C (p.Leu702=) c.2284T>C (p.Leu762=) c.1951T>C (p.Leu651=) | |
7 | g.117592361T>G | CA368980344 | CFTR | c.2194T>G (p.Leu732Val) c.*1908T>G (n.*1908T>G) c.2011T>G (p.Leu671Val) c.*494T>G (n.*494T>G) c.*2018T>G (n.*2018T>G) c.1768T>G (p.Leu590Val) c.1402-10465T>G (n.1402-10465T>G) c.2104T>G (p.Leu702Val) c.2284T>G (p.Leu762Val) c.1951T>G (p.Leu651Val) | ClinVar dbSNP gnomAD v4 |
7 | g.117592362T>A | CA368980346 | CFTR | c.2195T>A (p.Leu732Ter) c.*1909T>A (n.*1909T>A) c.2012T>A (p.Leu671Ter) c.*495T>A (n.*495T>A) c.*2019T>A (n.*2019T>A) c.1769T>A (p.Leu590Ter) c.1402-10464T>A (n.1402-10464T>A) c.2105T>A (p.Leu702Ter) c.2285T>A (p.Leu762Ter) c.1952T>A (p.Leu651Ter) | |
7 | g.117592362T>C | CA368980347 | CFTR | c.2195T>C (p.Leu732Ser) c.*1909T>C (n.*1909T>C) c.2012T>C (p.Leu671Ser) c.*495T>C (n.*495T>C) c.*2019T>C (n.*2019T>C) c.1769T>C (p.Leu590Ser) c.1402-10464T>C (n.1402-10464T>C) c.2105T>C (p.Leu702Ser) c.2285T>C (p.Leu762Ser) c.1952T>C (p.Leu651Ser) | |
7 | g.117592362T>G | CA328095 | CFTR | c.2195T>G (p.Leu732Ter) c.*1909T>G (n.*1909T>G) c.2012T>G (p.Leu671Ter) c.*495T>G (n.*495T>G) c.*2019T>G (n.*2019T>G) c.1769T>G (p.Leu590Ter) c.1402-10464T>G (n.1402-10464T>G) c.2105T>G (p.Leu702Ter) c.2285T>G (p.Leu762Ter) c.1952T>G (p.Leu651Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592362T= | CA1737394995 | CFTR | c.2195T= (p.Leu732=) c.*1909T= (n.*1909T=) c.2012T= (p.Leu671=) c.*495T= (n.*495T=) c.*2019T= (n.*2019T=) c.1769T= (p.Leu590=) c.1402-10464T= (n.1402-10464T=) c.2105T= (p.Leu702=) c.2285T= (p.Leu762=) c.1952T= (p.Leu651=) | |
7 | g.117592363A>C | CA368980348 | CFTR | c.2196A>C (p.Leu732Phe) c.*1910A>C (n.*1910A>C) c.2013A>C (p.Leu671Phe) c.*496A>C (n.*496A>C) c.*2020A>C (n.*2020A>C) c.1770A>C (p.Leu590Phe) c.1402-10463A>C (n.1402-10463A>C) c.2106A>C (p.Leu702Phe) c.2286A>C (p.Leu762Phe) c.1953A>C (p.Leu651Phe) | |
7 | g.117592363A>G | CA457449416 | CFTR | c.2196A>G (p.Leu732=) c.*1910A>G (n.*1910A>G) c.2013A>G (p.Leu671=) c.*496A>G (n.*496A>G) c.*2020A>G (n.*2020A>G) c.1770A>G (p.Leu590=) c.1402-10463A>G (n.1402-10463A>G) c.2106A>G (p.Leu702=) c.2286A>G (p.Leu762=) c.1953A>G (p.Leu651=) | gnomAD v4 |
7 | g.117592363A>T | CA368980349 | CFTR | c.2196A>T (p.Leu732Phe) c.*1910A>T (n.*1910A>T) c.2013A>T (p.Leu671Phe) c.*496A>T (n.*496A>T) c.*2020A>T (n.*2020A>T) c.1770A>T (p.Leu590Phe) c.1402-10463A>T (n.1402-10463A>T) c.2106A>T (p.Leu702Phe) c.2286A>T (p.Leu762Phe) c.1953A>T (p.Leu651Phe) | |
7 | g.117592364G>A | CA368980350 | CFTR | c.2197G>A (p.Glu733Lys) c.*1911G>A (n.*1911G>A) c.2014G>A (p.Glu672Lys) c.*497G>A (n.*497G>A) c.*2021G>A (n.*2021G>A) c.1771G>A (p.Glu591Lys) c.1402-10462G>A (n.1402-10462G>A) c.2107G>A (p.Glu703Lys) c.2287G>A (p.Glu763Lys) c.1954G>A (p.Glu652Lys) | |
7 | g.117592364G>C | CA368980351 | CFTR | c.2197G>C (p.Glu733Gln) c.*1911G>C (n.*1911G>C) c.2014G>C (p.Glu672Gln) c.*497G>C (n.*497G>C) c.*2021G>C (n.*2021G>C) c.1771G>C (p.Glu591Gln) c.1402-10462G>C (n.1402-10462G>C) c.2107G>C (p.Glu703Gln) c.2287G>C (p.Glu763Gln) c.1954G>C (p.Glu652Gln) | |
7 | g.117592364G>T | CA368980352 | CFTR | c.2197G>T (p.Glu733Ter) c.*1911G>T (n.*1911G>T) c.2014G>T (p.Glu672Ter) c.*497G>T (n.*497G>T) c.*2021G>T (n.*2021G>T) c.1771G>T (p.Glu591Ter) c.1402-10462G>T (n.1402-10462G>T) c.2107G>T (p.Glu703Ter) c.2287G>T (p.Glu763Ter) c.1954G>T (p.Glu652Ter) | |
7 | g.117592365A>C | CA368980353 | CFTR | c.2198A>C (p.Glu733Ala) c.*1912A>C (n.*1912A>C) c.2015A>C (p.Glu672Ala) c.*498A>C (n.*498A>C) c.*2022A>C (n.*2022A>C) c.1772A>C (p.Glu591Ala) c.1402-10461A>C (n.1402-10461A>C) c.2108A>C (p.Glu703Ala) c.2288A>C (p.Glu763Ala) c.1955A>C (p.Glu652Ala) | |
7 | g.117592365A>G | CA368980354 | CFTR | c.2198A>G (p.Glu733Gly) c.*1912A>G (n.*1912A>G) c.2015A>G (p.Glu672Gly) c.*498A>G (n.*498A>G) c.*2022A>G (n.*2022A>G) c.1772A>G (p.Glu591Gly) c.1402-10461A>G (n.1402-10461A>G) c.2108A>G (p.Glu703Gly) c.2288A>G (p.Glu763Gly) c.1955A>G (p.Glu652Gly) | |
7 | g.117592365A>T | CA368980358 | CFTR | c.2198A>T (p.Glu733Val) c.*1912A>T (n.*1912A>T) c.2015A>T (p.Glu672Val) c.*498A>T (n.*498A>T) c.*2022A>T (n.*2022A>T) c.1772A>T (p.Glu591Val) c.1402-10461A>T (n.1402-10461A>T) c.2108A>T (p.Glu703Val) c.2288A>T (p.Glu763Val) c.1955A>T (p.Glu652Val) | |
7 | g.117592366G>A | CA457449418 | CFTR | c.2199G>A (p.Glu733=) c.*1913G>A (n.*1913G>A) c.2016G>A (p.Glu672=) c.*499G>A (n.*499G>A) c.*2023G>A (n.*2023G>A) c.1773G>A (p.Glu591=) c.1402-10460G>A (n.1402-10460G>A) c.2109G>A (p.Glu703=) c.2289G>A (p.Glu763=) c.1956G>A (p.Glu652=) | |
7 | g.117592366G>C | CA368980363 | CFTR | c.2199G>C (p.Glu733Asp) c.*1913G>C (n.*1913G>C) c.2016G>C (p.Glu672Asp) c.*499G>C (n.*499G>C) c.*2023G>C (n.*2023G>C) c.1773G>C (p.Glu591Asp) c.1402-10460G>C (n.1402-10460G>C) c.2109G>C (p.Glu703Asp) c.2289G>C (p.Glu763Asp) c.1956G>C (p.Glu652Asp) | |
7 | g.117592366G>T | CA368980360 | CFTR | c.2199G>T (p.Glu733Asp) c.*1913G>T (n.*1913G>T) c.2016G>T (p.Glu672Asp) c.*499G>T (n.*499G>T) c.*2023G>T (n.*2023G>T) c.1773G>T (p.Glu591Asp) c.1402-10460G>T (n.1402-10460G>T) c.2109G>T (p.Glu703Asp) c.2289G>T (p.Glu763Asp) c.1956G>T (p.Glu652Asp) | |
7 | g.117592367A>C | CA457449419 | CFTR | c.2200A>C (p.Arg734=) c.*1914A>C (n.*1914A>C) c.2017A>C (p.Arg673=) c.*500A>C (n.*500A>C) c.*2024A>C (n.*2024A>C) c.1774A>C (p.Arg592=) c.1402-10459A>C (n.1402-10459A>C) c.2110A>C (p.Arg704=) c.2290A>C (p.Arg764=) c.1957A>C (p.Arg653=) | |
7 | g.117592367A>G | CA368980366 | CFTR | c.2200A>G (p.Arg734Gly) c.*1914A>G (n.*1914A>G) c.2017A>G (p.Arg673Gly) c.*500A>G (n.*500A>G) c.*2024A>G (n.*2024A>G) c.1774A>G (p.Arg592Gly) c.1402-10459A>G (n.1402-10459A>G) c.2110A>G (p.Arg704Gly) c.2290A>G (p.Arg764Gly) c.1957A>G (p.Arg653Gly) | ClinVar gnomAD v4 |
7 | g.117592367A>T | CA368980368 | CFTR | c.2200A>T (p.Arg734Ter) c.*1914A>T (n.*1914A>T) c.2017A>T (p.Arg673Ter) c.*500A>T (n.*500A>T) c.*2024A>T (n.*2024A>T) c.1774A>T (p.Arg592Ter) c.1402-10459A>T (n.1402-10459A>T) c.2110A>T (p.Arg704Ter) c.2290A>T (p.Arg764Ter) c.1957A>T (p.Arg653Ter) | |
7 | g.117592369_117592371del | CA2684619358 | CFTR | c.2202_2204del (p.Arg735del) c.*1916_*1918del (n.*1916_*1918del) c.2019_2021del (p.Arg674del) c.*502_*504del (n.*502_*504del) c.*2026_*2028del (n.*2026_*2028del) c.1776_1778del (p.Arg593del) c.1402-10457_1402-10455del (n.1402-10457_1402-10455del) c.2112_2114del (p.Arg705del) c.2292_2294del (p.Arg765del) c.1959_1961del (p.Arg654del) | gnomAD v4 |
7 | g.117592368G>A | CA368980371 | CFTR | c.2201G>A (p.Arg734Lys) c.*1915G>A (n.*1915G>A) c.2018G>A (p.Arg673Lys) c.*501G>A (n.*501G>A) c.*2025G>A (n.*2025G>A) c.1775G>A (p.Arg592Lys) c.1402-10458G>A (n.1402-10458G>A) c.2111G>A (p.Arg704Lys) c.2291G>A (p.Arg764Lys) c.1958G>A (p.Arg653Lys) | |
7 | g.117592368G>C | CA368980373 | CFTR | c.2201G>C (p.Arg734Thr) c.*1915G>C (n.*1915G>C) c.2018G>C (p.Arg673Thr) c.*501G>C (n.*501G>C) c.*2025G>C (n.*2025G>C) c.1775G>C (p.Arg592Thr) c.1402-10458G>C (n.1402-10458G>C) c.2111G>C (p.Arg704Thr) c.2291G>C (p.Arg764Thr) c.1958G>C (p.Arg653Thr) | |
7 | g.117592368G>T | CA368980375 | CFTR | c.2201G>T (p.Arg734Ile) c.*1915G>T (n.*1915G>T) c.2018G>T (p.Arg673Ile) c.*501G>T (n.*501G>T) c.*2025G>T (n.*2025G>T) c.1775G>T (p.Arg592Ile) c.1402-10458G>T (n.1402-10458G>T) c.2111G>T (p.Arg704Ile) c.2291G>T (p.Arg764Ile) c.1958G>T (p.Arg653Ile) | |
7 | g.117592368_117592369delinsGA | CA1737395000 | CFTR | c.2201_2202delinsGA (p.Arg734=) c.*1915_*1916delinsGA (n.*1915_*1916delinsGA) c.2018_2019delinsGA (p.Arg673=) c.*501_*502delinsGA (n.*501_*502delinsGA) c.*2025_*2026delinsGA (n.*2025_*2026delinsGA) c.1775_1776delinsGA (p.Arg592=) c.1402-10458_1402-10457delinsGA (n.1402-10458_1402-10457delinsGA) c.2111_2112delinsGA (p.Arg704=) c.2291_2292delinsGA (p.Arg764=) c.1958_1959delinsGA (p.Arg653=) | |
7 | g.117592369A>C | CA368980378 | CFTR | c.2202A>C (p.Arg734Ser) c.*1916A>C (n.*1916A>C) c.2019A>C (p.Arg673Ser) c.*502A>C (n.*502A>C) c.*2026A>C (n.*2026A>C) c.1776A>C (p.Arg592Ser) c.1402-10457A>C (n.1402-10457A>C) c.2112A>C (p.Arg704Ser) c.2292A>C (p.Arg764Ser) c.1959A>C (p.Arg653Ser) | |
7 | g.117592369A>G | CA457449423 | CFTR | c.2202A>G (p.Arg734=) c.*1916A>G (n.*1916A>G) c.2019A>G (p.Arg673=) c.*502A>G (n.*502A>G) c.*2026A>G (n.*2026A>G) c.1776A>G (p.Arg592=) c.1402-10457A>G (n.1402-10457A>G) c.2112A>G (p.Arg704=) c.2292A>G (p.Arg764=) c.1959A>G (p.Arg653=) | ClinVar |
7 | g.117592369A>T | CA368980380 | CFTR | c.2202A>T (p.Arg734Ser) c.*1916A>T (n.*1916A>T) c.2019A>T (p.Arg673Ser) c.*502A>T (n.*502A>T) c.*2026A>T (n.*2026A>T) c.1776A>T (p.Arg592Ser) c.1402-10457A>T (n.1402-10457A>T) c.2112A>T (p.Arg704Ser) c.2292A>T (p.Arg764Ser) c.1959A>T (p.Arg653Ser) | |
7 | g.117592370del | CA326767 | CFTR | c.2203del (p.Arg735GlyfsTer4) c.*1917del (n.*1917del) c.2020del (p.Arg674GlyfsTer4) c.*503del (n.*503del) c.*2027del (n.*2027del) c.1777del (p.Arg593GlyfsTer4) c.1402-10456del (n.1402-10456del) c.2113del (p.Arg705GlyfsTer4) c.2293del (p.Arg765GlyfsTer4) c.1960del (p.Arg654GlyfsTer4) | ClinVar dbSNP |
7 | g.117592370A>C | CA457449427 | CFTR | c.2203A>C (p.Arg735=) c.*1917A>C (n.*1917A>C) c.2020A>C (p.Arg674=) c.*503A>C (n.*503A>C) c.*2027A>C (n.*2027A>C) c.1777A>C (p.Arg593=) c.1402-10456A>C (n.1402-10456A>C) c.2113A>C (p.Arg705=) c.2293A>C (p.Arg765=) c.1960A>C (p.Arg654=) | |
7 | g.117592370A>G | CA368980385 | CFTR | c.2203A>G (p.Arg735Gly) c.*1917A>G (n.*1917A>G) c.2020A>G (p.Arg674Gly) c.*503A>G (n.*503A>G) c.*2027A>G (n.*2027A>G) c.1777A>G (p.Arg593Gly) c.1402-10456A>G (n.1402-10456A>G) c.2113A>G (p.Arg705Gly) c.2293A>G (p.Arg765Gly) c.1960A>G (p.Arg654Gly) | |
7 | g.117592370A>T | CA368980387 | CFTR | c.2203A>T (p.Arg735Trp) c.*1917A>T (n.*1917A>T) c.2020A>T (p.Arg674Trp) c.*503A>T (n.*503A>T) c.*2027A>T (n.*2027A>T) c.1777A>T (p.Arg593Trp) c.1402-10456A>T (n.1402-10456A>T) c.2113A>T (p.Arg705Trp) c.2293A>T (p.Arg765Trp) c.1960A>T (p.Arg654Trp) | |
7 | g.117592370_117592371del | CA2684619359 | CFTR | c.2203_2204del (p.Arg735AlafsTer8) c.*1917_*1918del (n.*1917_*1918del) c.2020_2021del (p.Arg674AlafsTer8) c.*503_*504del (n.*503_*504del) c.*2027_*2028del (n.*2027_*2028del) c.1777_1778del (p.Arg593AlafsTer8) c.1402-10456_1402-10455del (n.1402-10456_1402-10455del) c.2113_2114del (p.Arg705AlafsTer8) c.2293_2294del (p.Arg765AlafsTer8) c.1960_1961del (p.Arg654AlafsTer8) | gnomAD v4 |
7 | g.117592371G>A | CA326768 | CFTR | c.2204G>A (p.Arg735Lys) c.*1918G>A (n.*1918G>A) c.2021G>A (p.Arg674Lys) c.*504G>A (n.*504G>A) c.*2028G>A (n.*2028G>A) c.1778G>A (p.Arg593Lys) c.1402-10455G>A (n.1402-10455G>A) c.2114G>A (p.Arg705Lys) c.2294G>A (p.Arg765Lys) c.1961G>A (p.Arg654Lys) | ClinVar dbSNP |
7 | g.117592371G>C | CA368980390 | CFTR | c.2204G>C (p.Arg735Thr) c.*1918G>C (n.*1918G>C) c.2021G>C (p.Arg674Thr) c.*504G>C (n.*504G>C) c.*2028G>C (n.*2028G>C) c.1778G>C (p.Arg593Thr) c.1402-10455G>C (n.1402-10455G>C) c.2114G>C (p.Arg705Thr) c.2294G>C (p.Arg765Thr) c.1961G>C (p.Arg654Thr) | |
7 | g.117592371G= | CA1737395010 | CFTR | c.2204G= (p.Arg735=) c.*1918G= (n.*1918G=) c.2021G= (p.Arg674=) c.*504G= (n.*504G=) c.*2028G= (n.*2028G=) c.1778G= (p.Arg593=) c.1402-10455G= (n.1402-10455G=) c.2114G= (p.Arg705=) c.2294G= (p.Arg765=) c.1961G= (p.Arg654=) | |
7 | g.117592371G>T | CA368980393 | CFTR | c.2204G>T (p.Arg735Met) c.*1918G>T (n.*1918G>T) c.2021G>T (p.Arg674Met) c.*504G>T (n.*504G>T) c.*2028G>T (n.*2028G>T) c.1778G>T (p.Arg593Met) c.1402-10455G>T (n.1402-10455G>T) c.2114G>T (p.Arg705Met) c.2294G>T (p.Arg765Met) c.1961G>T (p.Arg654Met) | gnomAD v4 |
7 | g.117592372G>A | CA457449430 | CFTR | c.2205G>A (p.Arg735=) c.*1919G>A (n.*1919G>A) c.2022G>A (p.Arg674=) c.*505G>A (n.*505G>A) c.*2029G>A (n.*2029G>A) c.1779G>A (p.Arg593=) c.1402-10454G>A (n.1402-10454G>A) c.2115G>A (p.Arg705=) c.2295G>A (p.Arg765=) c.1962G>A (p.Arg654=) | |
7 | g.117592372G>C | CA368980397 | CFTR | c.2205G>C (p.Arg735Ser) c.*1919G>C (n.*1919G>C) c.2022G>C (p.Arg674Ser) c.*505G>C (n.*505G>C) c.*2029G>C (n.*2029G>C) c.1779G>C (p.Arg593Ser) c.1402-10454G>C (n.1402-10454G>C) c.2115G>C (p.Arg705Ser) c.2295G>C (p.Arg765Ser) c.1962G>C (p.Arg654Ser) | ClinVar dbSNP |
7 | g.117592372G>T | CA368980399 | CFTR | c.2205G>T (p.Arg735Ser) c.*1919G>T (n.*1919G>T) c.2022G>T (p.Arg674Ser) c.*505G>T (n.*505G>T) c.*2029G>T (n.*2029G>T) c.1779G>T (p.Arg593Ser) c.1402-10454G>T (n.1402-10454G>T) c.2115G>T (p.Arg705Ser) c.2295G>T (p.Arg765Ser) c.1962G>T (p.Arg654Ser) | |
7 | g.117592373C>A | CA368980400 | CFTR | c.2206C>A (p.Leu736Met) c.*1920C>A (n.*1920C>A) c.2023C>A (p.Leu675Met) c.*506C>A (n.*506C>A) c.*2030C>A (n.*2030C>A) c.1780C>A (p.Leu594Met) c.1402-10453C>A (n.1402-10453C>A) c.2116C>A (p.Leu706Met) c.2296C>A (p.Leu766Met) c.1963C>A (p.Leu655Met) | |
7 | g.117592373C= | CA1737395012 | CFTR | c.2206C= (p.Leu736=) c.*1920C= (n.*1920C=) c.2023C= (p.Leu675=) c.*506C= (n.*506C=) c.*2030C= (n.*2030C=) c.1780C= (p.Leu594=) c.1402-10453C= (n.1402-10453C=) c.2116C= (p.Leu706=) c.2296C= (p.Leu766=) c.1963C= (p.Leu655=) | |
7 | g.117592373C>G | CA368980402 | CFTR | c.2206C>G (p.Leu736Val) c.*1920C>G (n.*1920C>G) c.2023C>G (p.Leu675Val) c.*506C>G (n.*506C>G) c.*2030C>G (n.*2030C>G) c.1780C>G (p.Leu594Val) c.1402-10453C>G (n.1402-10453C>G) c.2116C>G (p.Leu706Val) c.2296C>G (p.Leu766Val) c.1963C>G (p.Leu655Val) | |
7 | g.117592373C>T | CA457449433 | CFTR | c.2206C>T (p.Leu736=) c.*1920C>T (n.*1920C>T) c.2023C>T (p.Leu675=) c.*506C>T (n.*506C>T) c.*2030C>T (n.*2030C>T) c.1780C>T (p.Leu594=) c.1402-10453C>T (n.1402-10453C>T) c.2116C>T (p.Leu706=) c.2296C>T (p.Leu766=) c.1963C>T (p.Leu655=) | dbSNP gnomAD v4 |
7 | g.117592374T>A | CA368980405 | CFTR | c.2207T>A (p.Leu736Gln) c.*1921T>A (n.*1921T>A) c.2024T>A (p.Leu675Gln) c.*507T>A (n.*507T>A) c.*2031T>A (n.*2031T>A) c.1781T>A (p.Leu594Gln) c.1402-10452T>A (n.1402-10452T>A) c.2117T>A (p.Leu706Gln) c.2297T>A (p.Leu766Gln) c.1964T>A (p.Leu655Gln) | |
7 | g.117592374T>C | CA368980407 | CFTR | c.2207T>C (p.Leu736Pro) c.*1921T>C (n.*1921T>C) c.2024T>C (p.Leu675Pro) c.*507T>C (n.*507T>C) c.*2031T>C (n.*2031T>C) c.1781T>C (p.Leu594Pro) c.1402-10452T>C (n.1402-10452T>C) c.2117T>C (p.Leu706Pro) c.2297T>C (p.Leu766Pro) c.1964T>C (p.Leu655Pro) | |
7 | g.117592374T>G | CA368980409 | CFTR | c.2207T>G (p.Leu736Arg) c.*1921T>G (n.*1921T>G) c.2024T>G (p.Leu675Arg) c.*507T>G (n.*507T>G) c.*2031T>G (n.*2031T>G) c.1781T>G (p.Leu594Arg) c.1402-10452T>G (n.1402-10452T>G) c.2117T>G (p.Leu706Arg) c.2297T>G (p.Leu766Arg) c.1964T>G (p.Leu655Arg) | |
7 | g.117592375G>A | CA457449435 | CFTR | c.2208G>A (p.Leu736=) c.*1922G>A (n.*1922G>A) c.2025G>A (p.Leu675=) c.*508G>A (n.*508G>A) c.*2032G>A (n.*2032G>A) c.1782G>A (p.Leu594=) c.1402-10451G>A (n.1402-10451G>A) c.2118G>A (p.Leu706=) c.2298G>A (p.Leu766=) c.1965G>A (p.Leu655=) | ClinVar |
7 | g.117592375G>C | CA457449438 | CFTR | c.2208G>C (p.Leu736=) c.*1922G>C (n.*1922G>C) c.2025G>C (p.Leu675=) c.*508G>C (n.*508G>C) c.*2032G>C (n.*2032G>C) c.1782G>C (p.Leu594=) c.1402-10451G>C (n.1402-10451G>C) c.2118G>C (p.Leu706=) c.2298G>C (p.Leu766=) c.1965G>C (p.Leu655=) | |
7 | g.117592375G>T | CA457449441 | CFTR | c.2208G>T (p.Leu736=) c.*1922G>T (n.*1922G>T) c.2025G>T (p.Leu675=) c.*508G>T (n.*508G>T) c.*2032G>T (n.*2032G>T) c.1782G>T (p.Leu594=) c.1402-10451G>T (n.1402-10451G>T) c.2118G>T (p.Leu706=) c.2298G>T (p.Leu766=) c.1965G>T (p.Leu655=) | |
7 | g.117592375_117592376insC | CA2695208513 | CFTR | c.2208_2209insC (p.Ser737LeufsTer7) c.*1922_*1923insC (n.*1922_*1923insC) c.2025_2026insC (p.Ser676LeufsTer7) c.*508_*509insC (n.*508_*509insC) c.*2032_*2033insC (n.*2032_*2033insC) c.1782_1783insC (p.Ser595LeufsTer7) c.1402-10451_1402-10450insC (n.1402-10451_1402-10450insC) c.2118_2119insC (p.Ser707LeufsTer7) c.2298_2299insC (p.Ser767LeufsTer7) c.1965_1966insC (p.Ser656LeufsTer7) | |
7 | g.117592376T>A | CA4451153 | CFTR | c.2209T>A (p.Ser737Thr) c.*1923T>A (n.*1923T>A) c.2026T>A (p.Ser676Thr) c.*509T>A (n.*509T>A) c.*2033T>A (n.*2033T>A) c.1783T>A (p.Ser595Thr) c.1402-10450T>A (n.1402-10450T>A) c.2119T>A (p.Ser707Thr) c.2299T>A (p.Ser767Thr) c.1966T>A (p.Ser656Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592376T>C | CA368980413 | CFTR | c.2209T>C (p.Ser737Pro) c.*1923T>C (n.*1923T>C) c.2026T>C (p.Ser676Pro) c.*509T>C (n.*509T>C) c.*2033T>C (n.*2033T>C) c.1783T>C (p.Ser595Pro) c.1402-10450T>C (n.1402-10450T>C) c.2119T>C (p.Ser707Pro) c.2299T>C (p.Ser767Pro) c.1966T>C (p.Ser656Pro) | |
7 | g.117592376T>G | CA368980416 | CFTR | c.2209T>G (p.Ser737Ala) c.*1923T>G (n.*1923T>G) c.2026T>G (p.Ser676Ala) c.*509T>G (n.*509T>G) c.*2033T>G (n.*2033T>G) c.1783T>G (p.Ser595Ala) c.1402-10450T>G (n.1402-10450T>G) c.2119T>G (p.Ser707Ala) c.2299T>G (p.Ser767Ala) c.1966T>G (p.Ser656Ala) | |
7 | g.117592376T= | CA1737395016 | CFTR | c.2209T= (p.Ser737=) c.*1923T= (n.*1923T=) c.2026T= (p.Ser676=) c.*509T= (n.*509T=) c.*2033T= (n.*2033T=) c.1783T= (p.Ser595=) c.1402-10450T= (n.1402-10450T=) c.2119T= (p.Ser707=) c.2299T= (p.Ser767=) c.1966T= (p.Ser656=) | |
7 | g.117592377C>A | CA368980418 | CFTR | c.2210C>A (p.Ser737Tyr) c.*1924C>A (n.*1924C>A) c.2027C>A (p.Ser676Tyr) c.*510C>A (n.*510C>A) c.*2034C>A (n.*2034C>A) c.1784C>A (p.Ser595Tyr) c.1402-10449C>A (n.1402-10449C>A) c.2120C>A (p.Ser707Tyr) c.2300C>A (p.Ser767Tyr) c.1967C>A (p.Ser656Tyr) | |
7 | g.117592377C= | CA1737395019 | CFTR | c.2210C= (p.Ser737=) c.*1924C= (n.*1924C=) c.2027C= (p.Ser676=) c.*510C= (n.*510C=) c.*2034C= (n.*2034C=) c.1784C= (p.Ser595=) c.1402-10449C= (n.1402-10449C=) c.2120C= (p.Ser707=) c.2300C= (p.Ser767=) c.1967C= (p.Ser656=) | |
7 | g.117592377C>G | CA368980420 | CFTR | c.2210C>G (p.Ser737Cys) c.*1924C>G (n.*1924C>G) c.2027C>G (p.Ser676Cys) c.*510C>G (n.*510C>G) c.*2034C>G (n.*2034C>G) c.1784C>G (p.Ser595Cys) c.1402-10449C>G (n.1402-10449C>G) c.2120C>G (p.Ser707Cys) c.2300C>G (p.Ser767Cys) c.1967C>G (p.Ser656Cys) | |
7 | g.117592377C>T | CA326770 | CFTR | c.2210C>T (p.Ser737Phe) c.*1924C>T (n.*1924C>T) c.2027C>T (p.Ser676Phe) c.*510C>T (n.*510C>T) c.*2034C>T (n.*2034C>T) c.1784C>T (p.Ser595Phe) c.1402-10449C>T (n.1402-10449C>T) c.2120C>T (p.Ser707Phe) c.2300C>T (p.Ser767Phe) c.1967C>T (p.Ser656Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592378C>A | CA457449446 | CFTR | c.2211C>A (p.Ser737=) c.*1925C>A (n.*1925C>A) c.2028C>A (p.Ser676=) c.*511C>A (n.*511C>A) c.*2035C>A (n.*2035C>A) c.1785C>A (p.Ser595=) c.1402-10448C>A (n.1402-10448C>A) c.2121C>A (p.Ser707=) c.2301C>A (p.Ser767=) c.1968C>A (p.Ser656=) | |
7 | g.117592378C>G | CA457449447 | CFTR | c.2211C>G (p.Ser737=) c.*1925C>G (n.*1925C>G) c.2028C>G (p.Ser676=) c.*511C>G (n.*511C>G) c.*2035C>G (n.*2035C>G) c.1785C>G (p.Ser595=) c.1402-10448C>G (n.1402-10448C>G) c.2121C>G (p.Ser707=) c.2301C>G (p.Ser767=) c.1968C>G (p.Ser656=) | |
7 | g.117592378C>T | CA457449448 | CFTR | c.2211C>T (p.Ser737=) c.*1925C>T (n.*1925C>T) c.2028C>T (p.Ser676=) c.*511C>T (n.*511C>T) c.*2035C>T (n.*2035C>T) c.1785C>T (p.Ser595=) c.1402-10448C>T (n.1402-10448C>T) c.2121C>T (p.Ser707=) c.2301C>T (p.Ser767=) c.1968C>T (p.Ser656=) | ClinVar |
7 | g.117592379T>A | CA368980423 | CFTR | c.2212T>A (p.Leu738Ile) c.*1926T>A (n.*1926T>A) c.2029T>A (p.Leu677Ile) c.*512T>A (n.*512T>A) c.*2036T>A (n.*2036T>A) c.1786T>A (p.Leu596Ile) c.1402-10447T>A (n.1402-10447T>A) c.2122T>A (p.Leu708Ile) c.2302T>A (p.Leu768Ile) c.1969T>A (p.Leu657Ile) | |
7 | g.117592379T>C | CA457449451 | CFTR | c.2212T>C (p.Leu738=) c.*1926T>C (n.*1926T>C) c.2029T>C (p.Leu677=) c.*512T>C (n.*512T>C) c.*2036T>C (n.*2036T>C) c.1786T>C (p.Leu596=) c.1402-10447T>C (n.1402-10447T>C) c.2122T>C (p.Leu708=) c.2302T>C (p.Leu768=) c.1969T>C (p.Leu657=) | |
7 | g.117592379T>G | CA368980426 | CFTR | c.2212T>G (p.Leu738Val) c.*1926T>G (n.*1926T>G) c.2029T>G (p.Leu677Val) c.*512T>G (n.*512T>G) c.*2036T>G (n.*2036T>G) c.1786T>G (p.Leu596Val) c.1402-10447T>G (n.1402-10447T>G) c.2122T>G (p.Leu708Val) c.2302T>G (p.Leu768Val) c.1969T>G (p.Leu657Val) | ClinVar dbSNP gnomAD v4 |
7 | g.117592380T>A | CA368980432 | CFTR | c.2213T>A (p.Leu738Ter) c.*1927T>A (n.*1927T>A) c.2030T>A (p.Leu677Ter) c.*513T>A (n.*513T>A) c.*2037T>A (n.*2037T>A) c.1787T>A (p.Leu596Ter) c.1402-10446T>A (n.1402-10446T>A) c.2123T>A (p.Leu708Ter) c.2303T>A (p.Leu768Ter) c.1970T>A (p.Leu657Ter) | |
7 | g.117592380T>C | CA368980428 | CFTR | c.2213T>C (p.Leu738Ser) c.*1927T>C (n.*1927T>C) c.2030T>C (p.Leu677Ser) c.*513T>C (n.*513T>C) c.*2037T>C (n.*2037T>C) c.1787T>C (p.Leu596Ser) c.1402-10446T>C (n.1402-10446T>C) c.2123T>C (p.Leu708Ser) c.2303T>C (p.Leu768Ser) c.1970T>C (p.Leu657Ser) | |
7 | g.117592380T>G | CA368980429 | CFTR | c.2213T>G (p.Leu738Ter) c.*1927T>G (n.*1927T>G) c.2030T>G (p.Leu677Ter) c.*513T>G (n.*513T>G) c.*2037T>G (n.*2037T>G) c.1787T>G (p.Leu596Ter) c.1402-10446T>G (n.1402-10446T>G) c.2123T>G (p.Leu708Ter) c.2303T>G (p.Leu768Ter) c.1970T>G (p.Leu657Ter) | ClinVar |
7 | g.117592381A= | CA1737395023 | CFTR | c.2214A= (p.Leu738=) c.*1928A= (n.*1928A=) c.2031A= (p.Leu677=) c.*514A= (n.*514A=) c.*2038A= (n.*2038A=) c.1788A= (p.Leu596=) c.1402-10445A= (n.1402-10445A=) c.2124A= (p.Leu708=) c.2304A= (p.Leu768=) c.1971A= (p.Leu657=) | |
7 | g.117592381A>C | CA368980434 | CFTR | c.2214A>C (p.Leu738Phe) c.*1928A>C (n.*1928A>C) c.2031A>C (p.Leu677Phe) c.*514A>C (n.*514A>C) c.*2038A>C (n.*2038A>C) c.1788A>C (p.Leu596Phe) c.1402-10445A>C (n.1402-10445A>C) c.2124A>C (p.Leu708Phe) c.2304A>C (p.Leu768Phe) c.1971A>C (p.Leu657Phe) | dbSNP |
7 | g.117592381A>G | CA457449456 | CFTR | c.2214A>G (p.Leu738=) c.*1928A>G (n.*1928A>G) c.2031A>G (p.Leu677=) c.*514A>G (n.*514A>G) c.*2038A>G (n.*2038A>G) c.1788A>G (p.Leu596=) c.1402-10445A>G (n.1402-10445A>G) c.2124A>G (p.Leu708=) c.2304A>G (p.Leu768=) c.1971A>G (p.Leu657=) | |
7 | g.117592381A>T | CA368980436 | CFTR | c.2214A>T (p.Leu738Phe) c.*1928A>T (n.*1928A>T) c.2031A>T (p.Leu677Phe) c.*514A>T (n.*514A>T) c.*2038A>T (n.*2038A>T) c.1788A>T (p.Leu596Phe) c.1402-10445A>T (n.1402-10445A>T) c.2124A>T (p.Leu708Phe) c.2304A>T (p.Leu768Phe) c.1971A>T (p.Leu657Phe) | gnomAD v4 |
7 | g.117592381_117592382delinsAG | CA1737395021 | CFTR | c.2214_2215delinsAG (p.Leu738=) c.*1928_*1929delinsAG (n.*1928_*1929delinsAG) c.2031_2032delinsAG (p.Leu677=) c.*514_*515delinsAG (n.*514_*515delinsAG) c.*2038_*2039delinsAG (n.*2038_*2039delinsAG) c.1788_1789delinsAG (p.Leu596=) c.1402-10445_1402-10444delinsAG (n.1402-10445_1402-10444delinsAG) c.2124_2125delinsAG (p.Leu708=) c.2304_2305delinsAG (p.Leu768=) c.1971_1972delinsAG (p.Leu657=) | |
7 | g.117592382del | CA328097 | CFTR | c.2215del (p.Val739TyrfsTer16) c.*1929del (n.*1929del) c.2032del (p.Val678TyrfsTer16) c.*515del (n.*515del) c.*2039del (n.*2039del) c.1789del (p.Val597TyrfsTer16) c.1402-10444del (n.1402-10444del) c.2125del (p.Val709TyrfsTer16) c.2305del (p.Val769TyrfsTer16) c.1972del (p.Val658TyrfsTer16) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592382G>A | CA4451154 | CFTR | c.2215G>A (p.Val739Ile) c.*1929G>A (n.*1929G>A) c.2032G>A (p.Val678Ile) c.*515G>A (n.*515G>A) c.*2039G>A (n.*2039G>A) c.1789G>A (p.Val597Ile) c.1402-10444G>A (n.1402-10444G>A) c.2125G>A (p.Val709Ile) c.2305G>A (p.Val769Ile) c.1972G>A (p.Val658Ile) | dbSNP ExAC gnomAD v3 gnomAD v4 |
7 | g.117592382G>C | CA368980440 | CFTR | c.2215G>C (p.Val739Leu) c.*1929G>C (n.*1929G>C) c.2032G>C (p.Val678Leu) c.*515G>C (n.*515G>C) c.*2039G>C (n.*2039G>C) c.1789G>C (p.Val597Leu) c.1402-10444G>C (n.1402-10444G>C) c.2125G>C (p.Val709Leu) c.2305G>C (p.Val769Leu) c.1972G>C (p.Val658Leu) | gnomAD v4 |
7 | g.117592382G= | CA1737395030 | CFTR | c.2215G= (p.Val739=) c.*1929G= (n.*1929G=) c.2032G= (p.Val678=) c.*515G= (n.*515G=) c.*2039G= (n.*2039G=) c.1789G= (p.Val597=) c.1402-10444G= (n.1402-10444G=) c.2125G= (p.Val709=) c.2305G= (p.Val769=) c.1972G= (p.Val658=) | |
7 | g.117592382G>T | CA368980442 | CFTR | c.2215G>T (p.Val739Leu) c.*1929G>T (n.*1929G>T) c.2032G>T (p.Val678Leu) c.*515G>T (n.*515G>T) c.*2039G>T (n.*2039G>T) c.1789G>T (p.Val597Leu) c.1402-10444G>T (n.1402-10444G>T) c.2125G>T (p.Val709Leu) c.2305G>T (p.Val769Leu) c.1972G>T (p.Val658Leu) | |
7 | g.117592383T>A | CA368980446 | CFTR | c.2216T>A (p.Val739Glu) c.*1930T>A (n.*1930T>A) c.2033T>A (p.Val678Glu) c.*516T>A (n.*516T>A) c.*2040T>A (n.*2040T>A) c.1790T>A (p.Val597Glu) c.1402-10443T>A (n.1402-10443T>A) c.2126T>A (p.Val709Glu) c.2306T>A (p.Val769Glu) c.1973T>A (p.Val658Glu) | |
7 | g.117592383T>C | CA368980448 | CFTR | c.2216T>C (p.Val739Ala) c.*1930T>C (n.*1930T>C) c.2033T>C (p.Val678Ala) c.*516T>C (n.*516T>C) c.*2040T>C (n.*2040T>C) c.1790T>C (p.Val597Ala) c.1402-10443T>C (n.1402-10443T>C) c.2126T>C (p.Val709Ala) c.2306T>C (p.Val769Ala) c.1973T>C (p.Val658Ala) | gnomAD v4 |
7 | g.117592383T>G | CA368980451 | CFTR | c.2216T>G (p.Val739Gly) c.*1930T>G (n.*1930T>G) c.2033T>G (p.Val678Gly) c.*516T>G (n.*516T>G) c.*2040T>G (n.*2040T>G) c.1790T>G (p.Val597Gly) c.1402-10443T>G (n.1402-10443T>G) c.2126T>G (p.Val709Gly) c.2306T>G (p.Val769Gly) c.1973T>G (p.Val658Gly) | gnomAD v4 |
7 | g.117592384A>C | CA457449464 | CFTR | c.2217A>C (p.Val739=) c.*1931A>C (n.*1931A>C) c.2034A>C (p.Val678=) c.*517A>C (n.*517A>C) c.*2041A>C (n.*2041A>C) c.1791A>C (p.Val597=) c.1402-10442A>C (n.1402-10442A>C) c.2127A>C (p.Val709=) c.2307A>C (p.Val769=) c.1974A>C (p.Val658=) | |
7 | g.117592384A>G | CA457449465 | CFTR | c.2217A>G (p.Val739=) c.*1931A>G (n.*1931A>G) c.2034A>G (p.Val678=) c.*517A>G (n.*517A>G) c.*2041A>G (n.*2041A>G) c.1791A>G (p.Val597=) c.1402-10442A>G (n.1402-10442A>G) c.2127A>G (p.Val709=) c.2307A>G (p.Val769=) c.1974A>G (p.Val658=) | ClinVar |
7 | g.117592384A>T | CA457449466 | CFTR | c.2217A>T (p.Val739=) c.*1931A>T (n.*1931A>T) c.2034A>T (p.Val678=) c.*517A>T (n.*517A>T) c.*2041A>T (n.*2041A>T) c.1791A>T (p.Val597=) c.1402-10442A>T (n.1402-10442A>T) c.2127A>T (p.Val709=) c.2307A>T (p.Val769=) c.1974A>T (p.Val658=) | |
7 | g.117592385C>A | CA368980454 | CFTR | c.2218C>A (p.Pro740Thr) c.*1932C>A (n.*1932C>A) c.2035C>A (p.Pro679Thr) c.*518C>A (n.*518C>A) c.*2042C>A (n.*2042C>A) c.1792C>A (p.Pro598Thr) c.1402-10441C>A (n.1402-10441C>A) c.2128C>A (p.Pro710Thr) c.2308C>A (p.Pro770Thr) c.1975C>A (p.Pro659Thr) | |
7 | g.117592385C>G | CA368980456 | CFTR | c.2218C>G (p.Pro740Ala) c.*1932C>G (n.*1932C>G) c.2035C>G (p.Pro679Ala) c.*518C>G (n.*518C>G) c.*2042C>G (n.*2042C>G) c.1792C>G (p.Pro598Ala) c.1402-10441C>G (n.1402-10441C>G) c.2128C>G (p.Pro710Ala) c.2308C>G (p.Pro770Ala) c.1975C>G (p.Pro659Ala) | |
7 | g.117592385C>T | CA368980459 | CFTR | c.2218C>T (p.Pro740Ser) c.*1932C>T (n.*1932C>T) c.2035C>T (p.Pro679Ser) c.*518C>T (n.*518C>T) c.*2042C>T (n.*2042C>T) c.1792C>T (p.Pro598Ser) c.1402-10441C>T (n.1402-10441C>T) c.2128C>T (p.Pro710Ser) c.2308C>T (p.Pro770Ser) c.1975C>T (p.Pro659Ser) | |
7 | g.117592385_117592386insAATGGAAAATTTT | CA2507749182 | CFTR | c.2218_2219insAATGGAAAATTTT (p.Pro740GlnfsTer8) c.*1932_*1933insAATGGAAAATTTT (n.*1932_*1933insAATGGAAAATTTT) c.2035_2036insAATGGAAAATTTT (p.Pro679GlnfsTer8) c.*518_*519insAATGGAAAATTTT (n.*518_*519insAATGGAAAATTTT) c.*2042_*2043insAATGGAAAATTTT (n.*2042_*2043insAATGGAAAATTTT) c.1792_1793insAATGGAAAATTTT (p.Pro598GlnfsTer8) c.1402-10441_1402-10440insAATGGAAAATTTT (n.1402-10441_1402-10440insAATGGAAAATTTT) c.2128_2129insAATGGAAAATTTT (p.Pro710GlnfsTer8) c.2308_2309insAATGGAAAATTTT (p.Pro770GlnfsTer8) c.1975_1976insAATGGAAAATTTT (p.Pro659GlnfsTer8) | |
7 | g.117592386C>A | CA368980466 | CFTR | c.2219C>A (p.Pro740Gln) c.*1933C>A (n.*1933C>A) c.2036C>A (p.Pro679Gln) c.*519C>A (n.*519C>A) c.*2043C>A (n.*2043C>A) c.1793C>A (p.Pro598Gln) c.1402-10440C>A (n.1402-10440C>A) c.2129C>A (p.Pro710Gln) c.2309C>A (p.Pro770Gln) c.1976C>A (p.Pro659Gln) | dbSNP |
7 | g.117592386C= | CA1737395036 | CFTR | c.2219C= (p.Pro740=) c.*1933C= (n.*1933C=) c.2036C= (p.Pro679=) c.*519C= (n.*519C=) c.*2043C= (n.*2043C=) c.1793C= (p.Pro598=) c.1402-10440C= (n.1402-10440C=) c.2129C= (p.Pro710=) c.2309C= (p.Pro770=) c.1976C= (p.Pro659=) | |
7 | g.117592386C>G | CA368980464 | CFTR | c.2219C>G (p.Pro740Arg) c.*1933C>G (n.*1933C>G) c.2036C>G (p.Pro679Arg) c.*519C>G (n.*519C>G) c.*2043C>G (n.*2043C>G) c.1793C>G (p.Pro598Arg) c.1402-10440C>G (n.1402-10440C>G) c.2129C>G (p.Pro710Arg) c.2309C>G (p.Pro770Arg) c.1976C>G (p.Pro659Arg) | gnomAD v4 |
7 | g.117592386C>T | CA4451155 | CFTR | c.2219C>T (p.Pro740Leu) c.*1933C>T (n.*1933C>T) c.2036C>T (p.Pro679Leu) c.*519C>T (n.*519C>T) c.*2043C>T (n.*2043C>T) c.1793C>T (p.Pro598Leu) c.1402-10440C>T (n.1402-10440C>T) c.2129C>T (p.Pro710Leu) c.2309C>T (p.Pro770Leu) c.1976C>T (p.Pro659Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592386_117592387insGTATAGAGTTGATTGGATTG | CA2570260356 | CFTR | c.2219_2220insGTATAGAGTTGATTGGATTG (p.Asp741TyrfsTer21) c.*1933_*1934insGTATAGAGTTGATTGGATTG (n.*1933_*1934insGTATAGAGTTGATTGGATTG) c.2036_2037insGTATAGAGTTGATTGGATTG (p.Asp680TyrfsTer21) c.*519_*520insGTATAGAGTTGATTGGATTG (n.*519_*520insGTATAGAGTTGATTGGATTG) c.*2043_*2044insGTATAGAGTTGATTGGATTG (n.*2043_*2044insGTATAGAGTTGATTGGATTG) c.1793_1794insGTATAGAGTTGATTGGATTG (p.Asp599TyrfsTer21) c.1402-10440_1402-10439insGTATAGAGTTGATTGGATTG (n.1402-10440_1402-10439insGTATAGAGTTGATTGGATTG) c.2129_2130insGTATAGAGTTGATTGGATTG (p.Asp711TyrfsTer21) c.2309_2310insGTATAGAGTTGATTGGATTG (p.Asp771TyrfsTer21) c.1976_1977insGTATAGAGTTGATTGGATTG (p.Asp660TyrfsTer21) | |
7 | g.117592387A= | CA1737395043 | CFTR | c.2220A= (p.Pro740=) c.*1934A= (n.*1934A=) c.2037A= (p.Pro679=) c.*520A= (n.*520A=) c.*2044A= (n.*2044A=) c.1794A= (p.Pro598=) c.1402-10439A= (n.1402-10439A=) c.2130A= (p.Pro710=) c.2310A= (p.Pro770=) c.1977A= (p.Pro659=) | |
7 | g.117592387A>C | CA457449471 | CFTR | c.2220A>C (p.Pro740=) c.*1934A>C (n.*1934A>C) c.2037A>C (p.Pro679=) c.*520A>C (n.*520A>C) c.*2044A>C (n.*2044A>C) c.1794A>C (p.Pro598=) c.1402-10439A>C (n.1402-10439A>C) c.2130A>C (p.Pro710=) c.2310A>C (p.Pro770=) c.1977A>C (p.Pro659=) | |
7 | g.117592387A>G | CA457449473 | CFTR | c.2220A>G (p.Pro740=) c.*1934A>G (n.*1934A>G) c.2037A>G (p.Pro679=) c.*520A>G (n.*520A>G) c.*2044A>G (n.*2044A>G) c.1794A>G (p.Pro598=) c.1402-10439A>G (n.1402-10439A>G) c.2130A>G (p.Pro710=) c.2310A>G (p.Pro770=) c.1977A>G (p.Pro659=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592387A>T | CA457449472 | CFTR | c.2220A>T (p.Pro740=) c.*1934A>T (n.*1934A>T) c.2037A>T (p.Pro679=) c.*520A>T (n.*520A>T) c.*2044A>T (n.*2044A>T) c.1794A>T (p.Pro598=) c.1402-10439A>T (n.1402-10439A>T) c.2130A>T (p.Pro710=) c.2310A>T (p.Pro770=) c.1977A>T (p.Pro659=) | |
7 | g.117592388G>A | CA368980468 | CFTR | c.2221G>A (p.Asp741Asn) c.*1935G>A (n.*1935G>A) c.2038G>A (p.Asp680Asn) c.*521G>A (n.*521G>A) c.*2045G>A (n.*2045G>A) c.1795G>A (p.Asp599Asn) c.1402-10438G>A (n.1402-10438G>A) c.2131G>A (p.Asp711Asn) c.2311G>A (p.Asp771Asn) c.1978G>A (p.Asp660Asn) | |
7 | g.117592388G>C | CA368980467 | CFTR | c.2221G>C (p.Asp741His) c.*1935G>C (n.*1935G>C) c.2038G>C (p.Asp680His) c.*521G>C (n.*521G>C) c.*2045G>C (n.*2045G>C) c.1795G>C (p.Asp599His) c.1402-10438G>C (n.1402-10438G>C) c.2131G>C (p.Asp711His) c.2311G>C (p.Asp771His) c.1978G>C (p.Asp660His) | |
7 | g.117592388G>T | CA368980470 | CFTR | c.2221G>T (p.Asp741Tyr) c.*1935G>T (n.*1935G>T) c.2038G>T (p.Asp680Tyr) c.*521G>T (n.*521G>T) c.*2045G>T (n.*2045G>T) c.1795G>T (p.Asp599Tyr) c.1402-10438G>T (n.1402-10438G>T) c.2131G>T (p.Asp711Tyr) c.2311G>T (p.Asp771Tyr) c.1978G>T (p.Asp660Tyr) | gnomAD v4 |
7 | g.117592389A>C | CA368980473 | CFTR | c.2222A>C (p.Asp741Ala) c.*1936A>C (n.*1936A>C) c.2039A>C (p.Asp680Ala) c.*522A>C (n.*522A>C) c.*2046A>C (n.*2046A>C) c.1796A>C (p.Asp599Ala) c.1402-10437A>C (n.1402-10437A>C) c.2132A>C (p.Asp711Ala) c.2312A>C (p.Asp771Ala) c.1979A>C (p.Asp660Ala) | |
7 | g.117592389A>G | CA368980474 | CFTR | c.2222A>G (p.Asp741Gly) c.*1936A>G (n.*1936A>G) c.2039A>G (p.Asp680Gly) c.*522A>G (n.*522A>G) c.*2046A>G (n.*2046A>G) c.1796A>G (p.Asp599Gly) c.1402-10437A>G (n.1402-10437A>G) c.2132A>G (p.Asp711Gly) c.2312A>G (p.Asp771Gly) c.1979A>G (p.Asp660Gly) | |
7 | g.117592389A>T | CA368980477 | CFTR | c.2222A>T (p.Asp741Val) c.*1936A>T (n.*1936A>T) c.2039A>T (p.Asp680Val) c.*522A>T (n.*522A>T) c.*2046A>T (n.*2046A>T) c.1796A>T (p.Asp599Val) c.1402-10437A>T (n.1402-10437A>T) c.2132A>T (p.Asp711Val) c.2312A>T (p.Asp771Val) c.1979A>T (p.Asp660Val) | |
7 | g.117592390T>A | CA368980479 | CFTR | c.2223T>A (p.Asp741Glu) c.*1937T>A (n.*1937T>A) c.2040T>A (p.Asp680Glu) c.*523T>A (n.*523T>A) c.*2047T>A (n.*2047T>A) c.1797T>A (p.Asp599Glu) c.1402-10436T>A (n.1402-10436T>A) c.2133T>A (p.Asp711Glu) c.2313T>A (p.Asp771Glu) c.1980T>A (p.Asp660Glu) | |
7 | g.117592390T>C | CA457449481 | CFTR | c.2223T>C (p.Asp741=) c.*1937T>C (n.*1937T>C) c.2040T>C (p.Asp680=) c.*523T>C (n.*523T>C) c.*2047T>C (n.*2047T>C) c.1797T>C (p.Asp599=) c.1402-10436T>C (n.1402-10436T>C) c.2133T>C (p.Asp711=) c.2313T>C (p.Asp771=) c.1980T>C (p.Asp660=) | gnomAD v4 |
7 | g.117592390T>G | CA368980480 | CFTR | c.2223T>G (p.Asp741Glu) c.*1937T>G (n.*1937T>G) c.2040T>G (p.Asp680Glu) c.*523T>G (n.*523T>G) c.*2047T>G (n.*2047T>G) c.1797T>G (p.Asp599Glu) c.1402-10436T>G (n.1402-10436T>G) c.2133T>G (p.Asp711Glu) c.2313T>G (p.Asp771Glu) c.1980T>G (p.Asp660Glu) | |
7 | g.117592391T>A | CA368980485 | CFTR | c.2224T>A (p.Ser742Thr) c.*1938T>A (n.*1938T>A) c.2041T>A (p.Ser681Thr) c.*524T>A (n.*524T>A) c.*2048T>A (n.*2048T>A) c.1798T>A (p.Ser600Thr) c.1402-10435T>A (n.1402-10435T>A) c.2134T>A (p.Ser712Thr) c.2314T>A (p.Ser772Thr) c.1981T>A (p.Ser661Thr) | |
7 | g.117592391T>C | CA368980482 | CFTR | c.2224T>C (p.Ser742Pro) c.*1938T>C (n.*1938T>C) c.2041T>C (p.Ser681Pro) c.*524T>C (n.*524T>C) c.*2048T>C (n.*2048T>C) c.1798T>C (p.Ser600Pro) c.1402-10435T>C (n.1402-10435T>C) c.2134T>C (p.Ser712Pro) c.2314T>C (p.Ser772Pro) c.1981T>C (p.Ser661Pro) | |
7 | g.117592391T>G | CA368980481 | CFTR | c.2224T>G (p.Ser742Ala) c.*1938T>G (n.*1938T>G) c.2041T>G (p.Ser681Ala) c.*524T>G (n.*524T>G) c.*2048T>G (n.*2048T>G) c.1798T>G (p.Ser600Ala) c.1402-10435T>G (n.1402-10435T>G) c.2134T>G (p.Ser712Ala) c.2314T>G (p.Ser772Ala) c.1981T>G (p.Ser661Ala) | |
7 | g.117592392C>A | CA368980489 | CFTR | c.2225C>A (p.Ser742Tyr) c.*1939C>A (n.*1939C>A) c.2042C>A (p.Ser681Tyr) c.*525C>A (n.*525C>A) c.*2049C>A (n.*2049C>A) c.1799C>A (p.Ser600Tyr) c.1402-10434C>A (n.1402-10434C>A) c.2135C>A (p.Ser712Tyr) c.2315C>A (p.Ser772Tyr) c.1982C>A (p.Ser661Tyr) | |
7 | g.117592392C= | CA1737395046 | CFTR | c.2225C= (p.Ser742=) c.*1939C= (n.*1939C=) c.2042C= (p.Ser681=) c.*525C= (n.*525C=) c.*2049C= (n.*2049C=) c.1799C= (p.Ser600=) c.1402-10434C= (n.1402-10434C=) c.2135C= (p.Ser712=) c.2315C= (p.Ser772=) c.1982C= (p.Ser661=) | |
7 | g.117592392C>G | CA368980491 | CFTR | c.2225C>G (p.Ser742Cys) c.*1939C>G (n.*1939C>G) c.2042C>G (p.Ser681Cys) c.*525C>G (n.*525C>G) c.*2049C>G (n.*2049C>G) c.1799C>G (p.Ser600Cys) c.1402-10434C>G (n.1402-10434C>G) c.2135C>G (p.Ser712Cys) c.2315C>G (p.Ser772Cys) c.1982C>G (p.Ser661Cys) | |
7 | g.117592392C>T | CA368980492 | CFTR | c.2225C>T (p.Ser742Phe) c.*1939C>T (n.*1939C>T) c.2042C>T (p.Ser681Phe) c.*525C>T (n.*525C>T) c.*2049C>T (n.*2049C>T) c.1799C>T (p.Ser600Phe) c.1402-10434C>T (n.1402-10434C>T) c.2135C>T (p.Ser712Phe) c.2315C>T (p.Ser772Phe) c.1982C>T (p.Ser661Phe) | ClinVar dbSNP gnomAD v4 |
7 | g.117592393T>A | CA457449485 | CFTR | c.2226T>A (p.Ser742=) c.*1940T>A (n.*1940T>A) c.2043T>A (p.Ser681=) c.*526T>A (n.*526T>A) c.*2050T>A (n.*2050T>A) c.1800T>A (p.Ser600=) c.1402-10433T>A (n.1402-10433T>A) c.2136T>A (p.Ser712=) c.2316T>A (p.Ser772=) c.1983T>A (p.Ser661=) | |
7 | g.117592393T>C | CA457449486 | CFTR | c.2226T>C (p.Ser742=) c.*1940T>C (n.*1940T>C) c.2043T>C (p.Ser681=) c.*526T>C (n.*526T>C) c.*2050T>C (n.*2050T>C) c.1800T>C (p.Ser600=) c.1402-10433T>C (n.1402-10433T>C) c.2136T>C (p.Ser712=) c.2316T>C (p.Ser772=) c.1983T>C (p.Ser661=) | ClinVar dbSNP gnomAD v4 |
7 | g.117592393T>G | CA457449487 | CFTR | c.2226T>G (p.Ser742=) c.*1940T>G (n.*1940T>G) c.2043T>G (p.Ser681=) c.*526T>G (n.*526T>G) c.*2050T>G (n.*2050T>G) c.1800T>G (p.Ser600=) c.1402-10433T>G (n.1402-10433T>G) c.2136T>G (p.Ser712=) c.2316T>G (p.Ser772=) c.1983T>G (p.Ser661=) | |
7 | g.117592394G>A | CA164948004 | CFTR | c.2227G>A (p.Glu743Lys) c.*1941G>A (n.*1941G>A) c.2044G>A (p.Glu682Lys) c.*527G>A (n.*527G>A) c.*2051G>A (n.*2051G>A) c.1801G>A (p.Glu601Lys) c.1402-10432G>A (n.1402-10432G>A) c.2137G>A (p.Glu713Lys) c.2317G>A (p.Glu773Lys) c.1984G>A (p.Glu662Lys) | dbSNP COSMIC |
7 | g.117592394G>C | CA368980494 | CFTR | c.2227G>C (p.Glu743Gln) c.*1941G>C (n.*1941G>C) c.2044G>C (p.Glu682Gln) c.*527G>C (n.*527G>C) c.*2051G>C (n.*2051G>C) c.1801G>C (p.Glu601Gln) c.1402-10432G>C (n.1402-10432G>C) c.2137G>C (p.Glu713Gln) c.2317G>C (p.Glu773Gln) c.1984G>C (p.Glu662Gln) | gnomAD v4 |
7 | g.117592394G= | CA1737395050 | CFTR | c.2227G= (p.Glu743=) c.*1941G= (n.*1941G=) c.2044G= (p.Glu682=) c.*527G= (n.*527G=) c.*2051G= (n.*2051G=) c.1801G= (p.Glu601=) c.1402-10432G= (n.1402-10432G=) c.2137G= (p.Glu713=) c.2317G= (p.Glu773=) c.1984G= (p.Glu662=) | |
7 | g.117592394G>T | CA368980496 | CFTR | c.2227G>T (p.Glu743Ter) c.*1941G>T (n.*1941G>T) c.2044G>T (p.Glu682Ter) c.*527G>T (n.*527G>T) c.*2051G>T (n.*2051G>T) c.1801G>T (p.Glu601Ter) c.1402-10432G>T (n.1402-10432G>T) c.2137G>T (p.Glu713Ter) c.2317G>T (p.Glu773Ter) c.1984G>T (p.Glu662Ter) | |
7 | g.117592395A>C | CA368980506 | CFTR | c.2228A>C (p.Glu743Ala) c.*1942A>C (n.*1942A>C) c.2045A>C (p.Glu682Ala) c.*528A>C (n.*528A>C) c.*2052A>C (n.*2052A>C) c.1802A>C (p.Glu601Ala) c.1402-10431A>C (n.1402-10431A>C) c.2138A>C (p.Glu713Ala) c.2318A>C (p.Glu773Ala) c.1985A>C (p.Glu662Ala) | |
7 | g.117592395A>G | CA368980501 | CFTR | c.2228A>G (p.Glu743Gly) c.*1942A>G (n.*1942A>G) c.2045A>G (p.Glu682Gly) c.*528A>G (n.*528A>G) c.*2052A>G (n.*2052A>G) c.1802A>G (p.Glu601Gly) c.1402-10431A>G (n.1402-10431A>G) c.2138A>G (p.Glu713Gly) c.2318A>G (p.Glu773Gly) c.1985A>G (p.Glu662Gly) | |
7 | g.117592395A>T | CA368980504 | CFTR | c.2228A>T (p.Glu743Val) c.*1942A>T (n.*1942A>T) c.2045A>T (p.Glu682Val) c.*528A>T (n.*528A>T) c.*2052A>T (n.*2052A>T) c.1802A>T (p.Glu601Val) c.1402-10431A>T (n.1402-10431A>T) c.2138A>T (p.Glu713Val) c.2318A>T (p.Glu773Val) c.1985A>T (p.Glu662Val) | |
7 | g.117592396G>A | CA457449491 | CFTR | c.2229G>A (p.Glu743=) c.*1943G>A (n.*1943G>A) c.2046G>A (p.Glu682=) c.*529G>A (n.*529G>A) c.*2053G>A (n.*2053G>A) c.1803G>A (p.Glu601=) c.1402-10430G>A (n.1402-10430G>A) c.2139G>A (p.Glu713=) c.2319G>A (p.Glu773=) c.1986G>A (p.Glu662=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592396G>C | CA368980509 | CFTR | c.2229G>C (p.Glu743Asp) c.*1943G>C (n.*1943G>C) c.2046G>C (p.Glu682Asp) c.*529G>C (n.*529G>C) c.*2053G>C (n.*2053G>C) c.1803G>C (p.Glu601Asp) c.1402-10430G>C (n.1402-10430G>C) c.2139G>C (p.Glu713Asp) c.2319G>C (p.Glu773Asp) c.1986G>C (p.Glu662Asp) | |
7 | g.117592396G= | CA1737395053 | CFTR | c.2229G= (p.Glu743=) c.*1943G= (n.*1943G=) c.2046G= (p.Glu682=) c.*529G= (n.*529G=) c.*2053G= (n.*2053G=) c.1803G= (p.Glu601=) c.1402-10430G= (n.1402-10430G=) c.2139G= (p.Glu713=) c.2319G= (p.Glu773=) c.1986G= (p.Glu662=) | |
7 | g.117592396G>T | CA368980511 | CFTR | c.2229G>T (p.Glu743Asp) c.*1943G>T (n.*1943G>T) c.2046G>T (p.Glu682Asp) c.*529G>T (n.*529G>T) c.*2053G>T (n.*2053G>T) c.1803G>T (p.Glu601Asp) c.1402-10430G>T (n.1402-10430G>T) c.2139G>T (p.Glu713Asp) c.2319G>T (p.Glu773Asp) c.1986G>T (p.Glu662Asp) | |
7 | g.117592397C>A | CA368980514 | CFTR | c.2230C>A (p.Gln744Lys) c.*1944C>A (n.*1944C>A) c.2047C>A (p.Gln683Lys) c.*530C>A (n.*530C>A) c.*2054C>A (n.*2054C>A) c.1804C>A (p.Gln602Lys) c.1402-10429C>A (n.1402-10429C>A) c.2140C>A (p.Gln714Lys) c.2320C>A (p.Gln774Lys) c.1987C>A (p.Gln663Lys) | |
7 | g.117592397C>G | CA368980516 | CFTR | c.2230C>G (p.Gln744Glu) c.*1944C>G (n.*1944C>G) c.2047C>G (p.Gln683Glu) c.*530C>G (n.*530C>G) c.*2054C>G (n.*2054C>G) c.1804C>G (p.Gln602Glu) c.1402-10429C>G (n.1402-10429C>G) c.2140C>G (p.Gln714Glu) c.2320C>G (p.Gln774Glu) c.1987C>G (p.Gln663Glu) | |
7 | g.117592397C>T | CA368980518 | CFTR | c.2230C>T (p.Gln744Ter) c.*1944C>T (n.*1944C>T) c.2047C>T (p.Gln683Ter) c.*530C>T (n.*530C>T) c.*2054C>T (n.*2054C>T) c.1804C>T (p.Gln602Ter) c.1402-10429C>T (n.1402-10429C>T) c.2140C>T (p.Gln714Ter) c.2320C>T (p.Gln774Ter) c.1987C>T (p.Gln663Ter) | |
7 | g.117592398A= | CA1737395055 | CFTR | c.2231A= (p.Gln744=) c.*1945A= (n.*1945A=) c.2048A= (p.Gln683=) c.*531A= (n.*531A=) c.*2055A= (n.*2055A=) c.1805A= (p.Gln602=) c.1402-10428A= (n.1402-10428A=) c.2141A= (p.Gln714=) c.2321A= (p.Gln774=) c.1988A= (p.Gln663=) | |
7 | g.117592398A>C | CA368980519 | CFTR | c.2231A>C (p.Gln744Pro) c.*1945A>C (n.*1945A>C) c.2048A>C (p.Gln683Pro) c.*531A>C (n.*531A>C) c.*2055A>C (n.*2055A>C) c.1805A>C (p.Gln602Pro) c.1402-10428A>C (n.1402-10428A>C) c.2141A>C (p.Gln714Pro) c.2321A>C (p.Gln774Pro) c.1988A>C (p.Gln663Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592398A>G | CA368980520 | CFTR | c.2231A>G (p.Gln744Arg) c.*1945A>G (n.*1945A>G) c.2048A>G (p.Gln683Arg) c.*531A>G (n.*531A>G) c.*2055A>G (n.*2055A>G) c.1805A>G (p.Gln602Arg) c.1402-10428A>G (n.1402-10428A>G) c.2141A>G (p.Gln714Arg) c.2321A>G (p.Gln774Arg) c.1988A>G (p.Gln663Arg) | ClinVar gnomAD v4 |
7 | g.117592398A>T | CA368980522 | CFTR | c.2231A>T (p.Gln744Leu) c.*1945A>T (n.*1945A>T) c.2048A>T (p.Gln683Leu) c.*531A>T (n.*531A>T) c.*2055A>T (n.*2055A>T) c.1805A>T (p.Gln602Leu) c.1402-10428A>T (n.1402-10428A>T) c.2141A>T (p.Gln714Leu) c.2321A>T (p.Gln774Leu) c.1988A>T (p.Gln663Leu) | |
7 | g.117592399G>A | CA457449498 | CFTR | c.2232G>A (p.Gln744=) c.*1946G>A (n.*1946G>A) c.2049G>A (p.Gln683=) c.*532G>A (n.*532G>A) c.*2056G>A (n.*2056G>A) c.1806G>A (p.Gln602=) c.1402-10427G>A (n.1402-10427G>A) c.2142G>A (p.Gln714=) c.2322G>A (p.Gln774=) c.1989G>A (p.Gln663=) | |
7 | g.117592399G>C | CA368980525 | CFTR | c.2232G>C (p.Gln744His) c.*1946G>C (n.*1946G>C) c.2049G>C (p.Gln683His) c.*532G>C (n.*532G>C) c.*2056G>C (n.*2056G>C) c.1806G>C (p.Gln602His) c.1402-10427G>C (n.1402-10427G>C) c.2142G>C (p.Gln714His) c.2322G>C (p.Gln774His) c.1989G>C (p.Gln663His) | |
7 | g.117592399G>T | CA368980527 | CFTR | c.2232G>T (p.Gln744His) c.*1946G>T (n.*1946G>T) c.2049G>T (p.Gln683His) c.*532G>T (n.*532G>T) c.*2056G>T (n.*2056G>T) c.1806G>T (p.Gln602His) c.1402-10427G>T (n.1402-10427G>T) c.2142G>T (p.Gln714His) c.2322G>T (p.Gln774His) c.1989G>T (p.Gln663His) | |
7 | g.117592400G>A | CA368980530 | CFTR | c.2233G>A (p.Gly745Arg) c.*1947G>A (n.*1947G>A) c.2050G>A (p.Gly684Arg) c.*533G>A (n.*533G>A) c.*2057G>A (n.*2057G>A) c.1807G>A (p.Gly603Arg) c.1402-10426G>A (n.1402-10426G>A) c.2143G>A (p.Gly715Arg) c.2323G>A (p.Gly775Arg) c.1990G>A (p.Gly664Arg) | gnomAD v4 |
7 | g.117592400G>C | CA368980532 | CFTR | c.2233G>C (p.Gly745Arg) c.*1947G>C (n.*1947G>C) c.2050G>C (p.Gly684Arg) c.*533G>C (n.*533G>C) c.*2057G>C (n.*2057G>C) c.1807G>C (p.Gly603Arg) c.1402-10426G>C (n.1402-10426G>C) c.2143G>C (p.Gly715Arg) c.2323G>C (p.Gly775Arg) c.1990G>C (p.Gly664Arg) | |
7 | g.117592400G= | CA1737395058 | CFTR | c.2233G= (p.Gly745=) c.*1947G= (n.*1947G=) c.2050G= (p.Gly684=) c.*533G= (n.*533G=) c.*2057G= (n.*2057G=) c.1807G= (p.Gly603=) c.1402-10426G= (n.1402-10426G=) c.2143G= (p.Gly715=) c.2323G= (p.Gly775=) c.1990G= (p.Gly664=) | |
7 | g.117592400G>T | CA326772 | CFTR | c.2233G>T (p.Gly745Ter) c.*1947G>T (n.*1947G>T) c.2050G>T (p.Gly684Ter) c.*533G>T (n.*533G>T) c.*2057G>T (n.*2057G>T) c.1807G>T (p.Gly603Ter) c.1402-10426G>T (n.1402-10426G>T) c.2143G>T (p.Gly715Ter) c.2323G>T (p.Gly775Ter) c.1990G>T (p.Gly664Ter) | ClinVar dbSNP |
7 | g.117592401G>A | CA368980536 | CFTR | c.2234G>A (p.Gly745Glu) c.*1948G>A (n.*1948G>A) c.2051G>A (p.Gly684Glu) c.*534G>A (n.*534G>A) c.*2058G>A (n.*2058G>A) c.1808G>A (p.Gly603Glu) c.1402-10425G>A (n.1402-10425G>A) c.2144G>A (p.Gly715Glu) c.2324G>A (p.Gly775Glu) c.1991G>A (p.Gly664Glu) | gnomAD v4 |
7 | g.117592401G>C | CA368980540 | CFTR | c.2234G>C (p.Gly745Ala) c.*1948G>C (n.*1948G>C) c.2051G>C (p.Gly684Ala) c.*534G>C (n.*534G>C) c.*2058G>C (n.*2058G>C) c.1808G>C (p.Gly603Ala) c.1402-10425G>C (n.1402-10425G>C) c.2144G>C (p.Gly715Ala) c.2324G>C (p.Gly775Ala) c.1991G>C (p.Gly664Ala) | |
7 | g.117592401G>T | CA368980537 | CFTR | c.2234G>T (p.Gly745Val) c.*1948G>T (n.*1948G>T) c.2051G>T (p.Gly684Val) c.*534G>T (n.*534G>T) c.*2058G>T (n.*2058G>T) c.1808G>T (p.Gly603Val) c.1402-10425G>T (n.1402-10425G>T) c.2144G>T (p.Gly715Val) c.2324G>T (p.Gly775Val) c.1991G>T (p.Gly664Val) | |
7 | g.117592402A>C | CA457449503 | CFTR | c.2235A>C (p.Gly745=) c.*1949A>C (n.*1949A>C) c.2052A>C (p.Gly684=) c.*535A>C (n.*535A>C) c.*2059A>C (n.*2059A>C) c.1809A>C (p.Gly603=) c.1402-10424A>C (n.1402-10424A>C) c.2145A>C (p.Gly715=) c.2325A>C (p.Gly775=) c.1992A>C (p.Gly664=) | |
7 | g.117592402A>G | CA457449504 | CFTR | c.2235A>G (p.Gly745=) c.*1949A>G (n.*1949A>G) c.2052A>G (p.Gly684=) c.*535A>G (n.*535A>G) c.*2059A>G (n.*2059A>G) c.1809A>G (p.Gly603=) c.1402-10424A>G (n.1402-10424A>G) c.2145A>G (p.Gly715=) c.2325A>G (p.Gly775=) c.1992A>G (p.Gly664=) | ClinVar |
7 | g.117592402A>T | CA457449505 | CFTR | c.2235A>T (p.Gly745=) c.*1949A>T (n.*1949A>T) c.2052A>T (p.Gly684=) c.*535A>T (n.*535A>T) c.*2059A>T (n.*2059A>T) c.1809A>T (p.Gly603=) c.1402-10424A>T (n.1402-10424A>T) c.2145A>T (p.Gly715=) c.2325A>T (p.Gly775=) c.1992A>T (p.Gly664=) | |
7 | g.117592403G>A | CA368980542 | CFTR | c.2236G>A (p.Glu746Lys) c.*1950G>A (n.*1950G>A) c.2053G>A (p.Glu685Lys) c.*536G>A (n.*536G>A) c.*2060G>A (n.*2060G>A) c.1810G>A (p.Glu604Lys) c.1402-10423G>A (n.1402-10423G>A) c.2146G>A (p.Glu716Lys) c.2326G>A (p.Glu776Lys) c.1993G>A (p.Glu665Lys) | |
7 | g.117592403G>C | CA368980545 | CFTR | c.2236G>C (p.Glu746Gln) c.*1950G>C (n.*1950G>C) c.2053G>C (p.Glu685Gln) c.*536G>C (n.*536G>C) c.*2060G>C (n.*2060G>C) c.1810G>C (p.Glu604Gln) c.1402-10423G>C (n.1402-10423G>C) c.2146G>C (p.Glu716Gln) c.2326G>C (p.Glu776Gln) c.1993G>C (p.Glu665Gln) | |
7 | g.117592403G>T | CA368980547 | CFTR | c.2236G>T (p.Glu746Ter) c.*1950G>T (n.*1950G>T) c.2053G>T (p.Glu685Ter) c.*536G>T (n.*536G>T) c.*2060G>T (n.*2060G>T) c.1810G>T (p.Glu604Ter) c.1402-10423G>T (n.1402-10423G>T) c.2146G>T (p.Glu716Ter) c.2326G>T (p.Glu776Ter) c.1993G>T (p.Glu665Ter) | |
7 | g.117592403_117592413delinsAAAAATC | CA2695208514 | CFTR | c.2236_2246delinsAAAAATC (p.Glu746LysfsTer8) c.*1950_*1960delinsAAAAATC (n.*1950_*1960delinsAAAAATC) c.2053_2063delinsAAAAATC (p.Glu685LysfsTer8) c.*536_*546delinsAAAAATC (n.*536_*546delinsAAAAATC) c.*2060_*2070delinsAAAAATC (n.*2060_*2070delinsAAAAATC) c.1810_1820delinsAAAAATC (p.Glu604LysfsTer8) c.1402-10423_1402-10413delinsAAAAATC (n.1402-10423_1402-10413delinsAAAAATC) c.2146_2156delinsAAAAATC (p.Glu716LysfsTer8) c.2326_2336delinsAAAAATC (p.Glu776LysfsTer8) c.1993_2003delinsAAAAATC (p.Glu665LysfsTer8) | |
7 | g.117592404_117592414del | CA2695208515 | CFTR | c.2237_2247del (p.Glu746AlafsTer29) c.*1951_*1961del (n.*1951_*1961del) c.2054_2064del (p.Glu685AlafsTer29) c.*537_*547del (n.*537_*547del) c.*2061_*2071del (n.*2061_*2071del) c.1811_1821del (p.Glu604AlafsTer29) c.1402-10422_1402-10412del (n.1402-10422_1402-10412del) c.2147_2157del (p.Glu716AlafsTer29) c.2327_2337del (p.Glu776AlafsTer29) c.1994_2004del (p.Glu665AlafsTer29) | |
7 | g.117592404A>C | CA368980550 | CFTR | c.2237A>C (p.Glu746Ala) c.*1951A>C (n.*1951A>C) c.2054A>C (p.Glu685Ala) c.*537A>C (n.*537A>C) c.*2061A>C (n.*2061A>C) c.1811A>C (p.Glu604Ala) c.1402-10422A>C (n.1402-10422A>C) c.2147A>C (p.Glu716Ala) c.2327A>C (p.Glu776Ala) c.1994A>C (p.Glu665Ala) | |
7 | g.117592404A>G | CA368980552 | CFTR | c.2237A>G (p.Glu746Gly) c.*1951A>G (n.*1951A>G) c.2054A>G (p.Glu685Gly) c.*537A>G (n.*537A>G) c.*2061A>G (n.*2061A>G) c.1811A>G (p.Glu604Gly) c.1402-10422A>G (n.1402-10422A>G) c.2147A>G (p.Glu716Gly) c.2327A>G (p.Glu776Gly) c.1994A>G (p.Glu665Gly) | |
7 | g.117592404A>T | CA368980554 | CFTR | c.2237A>T (p.Glu746Val) c.*1951A>T (n.*1951A>T) c.2054A>T (p.Glu685Val) c.*537A>T (n.*537A>T) c.*2061A>T (n.*2061A>T) c.1811A>T (p.Glu604Val) c.1402-10422A>T (n.1402-10422A>T) c.2147A>T (p.Glu716Val) c.2327A>T (p.Glu776Val) c.1994A>T (p.Glu665Val) | |
7 | g.117592405G>A | CA457449509 | CFTR | c.2238G>A (p.Glu746=) c.*1952G>A (n.*1952G>A) c.2055G>A (p.Glu685=) c.*538G>A (n.*538G>A) c.*2062G>A (n.*2062G>A) c.1812G>A (p.Glu604=) c.1402-10421G>A (n.1402-10421G>A) c.2148G>A (p.Glu716=) c.2328G>A (p.Glu776=) c.1995G>A (p.Glu665=) | dbSNP |
7 | g.117592405G>C | CA368980557 | CFTR | c.2238G>C (p.Glu746Asp) c.*1952G>C (n.*1952G>C) c.2055G>C (p.Glu685Asp) c.*538G>C (n.*538G>C) c.*2062G>C (n.*2062G>C) c.1812G>C (p.Glu604Asp) c.1402-10421G>C (n.1402-10421G>C) c.2148G>C (p.Glu716Asp) c.2328G>C (p.Glu776Asp) c.1995G>C (p.Glu665Asp) | ClinVar |
7 | g.117592405G= | CA1737395065 | CFTR | c.2238G= (p.Glu746=) c.*1952G= (n.*1952G=) c.2055G= (p.Glu685=) c.*538G= (n.*538G=) c.*2062G= (n.*2062G=) c.1812G= (p.Glu604=) c.1402-10421G= (n.1402-10421G=) c.2148G= (p.Glu716=) c.2328G= (p.Glu776=) c.1995G= (p.Glu665=) | |
7 | g.117592405G>T | CA368980559 | CFTR | c.2238G>T (p.Glu746Asp) c.*1952G>T (n.*1952G>T) c.2055G>T (p.Glu685Asp) c.*538G>T (n.*538G>T) c.*2062G>T (n.*2062G>T) c.1812G>T (p.Glu604Asp) c.1402-10421G>T (n.1402-10421G>T) c.2148G>T (p.Glu716Asp) c.2328G>T (p.Glu776Asp) c.1995G>T (p.Glu665Asp) | |
7 | g.117592405_117592413delinsGGCGATACT | CA1737395063 | CFTR | c.2238_2246delinsGGCGATACT (p.Glu746=) c.*1952_*1960delinsGGCGATACT (n.*1952_*1960delinsGGCGATACT) c.2055_2063delinsGGCGATACT (p.Glu685=) c.*538_*546delinsGGCGATACT (n.*538_*546delinsGGCGATACT) c.*2062_*2070delinsGGCGATACT (n.*2062_*2070delinsGGCGATACT) c.1812_1820delinsGGCGATACT (p.Glu604=) c.1402-10421_1402-10413delinsGGCGATACT (n.1402-10421_1402-10413delinsGGCGATACT) c.2148_2156delinsGGCGATACT (p.Glu716=) c.2328_2336delinsGGCGATACT (p.Glu776=) c.1995_2003delinsGGCGATACT (p.Glu665=) | |
7 | g.117592406G>A | CA368980563 | CFTR | c.2239G>A (p.Ala747Thr) c.*1953G>A (n.*1953G>A) c.2056G>A (p.Ala686Thr) c.*539G>A (n.*539G>A) c.*2063G>A (n.*2063G>A) c.1813G>A (p.Ala605Thr) c.1402-10420G>A (n.1402-10420G>A) c.2149G>A (p.Ala717Thr) c.2329G>A (p.Ala777Thr) c.1996G>A (p.Ala666Thr) | gnomAD v4 |
7 | g.117592406G>C | CA368980565 | CFTR | c.2239G>C (p.Ala747Pro) c.*1953G>C (n.*1953G>C) c.2056G>C (p.Ala686Pro) c.*539G>C (n.*539G>C) c.*2063G>C (n.*2063G>C) c.1813G>C (p.Ala605Pro) c.1402-10420G>C (n.1402-10420G>C) c.2149G>C (p.Ala717Pro) c.2329G>C (p.Ala777Pro) c.1996G>C (p.Ala666Pro) | |
7 | g.117592406G>T | CA368980568 | CFTR | c.2239G>T (p.Ala747Ser) c.*1953G>T (n.*1953G>T) c.2056G>T (p.Ala686Ser) c.*539G>T (n.*539G>T) c.*2063G>T (n.*2063G>T) c.1813G>T (p.Ala605Ser) c.1402-10420G>T (n.1402-10420G>T) c.2149G>T (p.Ala717Ser) c.2329G>T (p.Ala777Ser) c.1996G>T (p.Ala666Ser) | |
7 | g.117592408_117592415del | CA326774 | CFTR | c.2241_2248del (p.Ile748SerfsTer28) c.*1955_*1962del (n.*1955_*1962del) c.2058_2065del (p.Ile687SerfsTer28) c.*541_*548del (n.*541_*548del) c.*2065_*2072del (n.*2065_*2072del) c.1815_1822del (p.Ile606SerfsTer28) c.1402-10418_1402-10411del (n.1402-10418_1402-10411del) c.2151_2158del (p.Ile718SerfsTer28) c.2331_2338del (p.Ile778SerfsTer28) c.1998_2005del (p.Ile667SerfsTer28) | ClinVar dbSNP |
7 | g.117592407C>A | CA368980576 | CFTR | c.2240C>A (p.Ala747Glu) c.*1954C>A (n.*1954C>A) c.2057C>A (p.Ala686Glu) c.*540C>A (n.*540C>A) c.*2064C>A (n.*2064C>A) c.1814C>A (p.Ala605Glu) c.1402-10419C>A (n.1402-10419C>A) c.2150C>A (p.Ala717Glu) c.2330C>A (p.Ala777Glu) c.1997C>A (p.Ala666Glu) | ClinVar |
7 | g.117592407C= | CA1737395072 | CFTR | c.2240C= (p.Ala747=) c.*1954C= (n.*1954C=) c.2057C= (p.Ala686=) c.*540C= (n.*540C=) c.*2064C= (n.*2064C=) c.1814C= (p.Ala605=) c.1402-10419C= (n.1402-10419C=) c.2150C= (p.Ala717=) c.2330C= (p.Ala777=) c.1997C= (p.Ala666=) | |
7 | g.117592407C>G | CA368980574 | CFTR | c.2240C>G (p.Ala747Gly) c.*1954C>G (n.*1954C>G) c.2057C>G (p.Ala686Gly) c.*540C>G (n.*540C>G) c.*2064C>G (n.*2064C>G) c.1814C>G (p.Ala605Gly) c.1402-10419C>G (n.1402-10419C>G) c.2150C>G (p.Ala717Gly) c.2330C>G (p.Ala777Gly) c.1997C>G (p.Ala666Gly) | |
7 | g.117592407C>T | CA4451156 | CFTR | c.2240C>T (p.Ala747Val) c.*1954C>T (n.*1954C>T) c.2057C>T (p.Ala686Val) c.*540C>T (n.*540C>T) c.*2064C>T (n.*2064C>T) c.1814C>T (p.Ala605Val) c.1402-10419C>T (n.1402-10419C>T) c.2150C>T (p.Ala717Val) c.2330C>T (p.Ala777Val) c.1997C>T (p.Ala666Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.117592408del | CA2580076537 | CFTR | c.2241del (p.Ile748TyrfsTer7) c.*1955del (n.*1955del) c.2058del (p.Ile687TyrfsTer7) c.*541del (n.*541del) c.*2065del (n.*2065del) c.1815del (p.Ile606TyrfsTer7) c.1402-10418del (n.1402-10418del) c.2151del (p.Ile718TyrfsTer7) c.2331del (p.Ile778TyrfsTer7) c.1998del (p.Ile667TyrfsTer7) | ClinVar |
7 | g.117592408G>A | CA4451157 | CFTR | c.2241G>A (p.Ala747=) c.*1955G>A (n.*1955G>A) c.2058G>A (p.Ala686=) c.*541G>A (n.*541G>A) c.*2065G>A (n.*2065G>A) c.1815G>A (p.Ala605=) c.1402-10418G>A (n.1402-10418G>A) c.2151G>A (p.Ala717=) c.2331G>A (p.Ala777=) c.1998G>A (p.Ala666=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
7 | g.117592408G>C | CA457449521 | CFTR | c.2241G>C (p.Ala747=) c.*1955G>C (n.*1955G>C) c.2058G>C (p.Ala686=) c.*541G>C (n.*541G>C) c.*2065G>C (n.*2065G>C) c.1815G>C (p.Ala605=) c.1402-10418G>C (n.1402-10418G>C) c.2151G>C (p.Ala717=) c.2331G>C (p.Ala777=) c.1998G>C (p.Ala666=) | |
7 | g.117592408G= | CA1737395075 | CFTR | c.2241G= (p.Ala747=) c.*1955G= (n.*1955G=) c.2058G= (p.Ala686=) c.*541G= (n.*541G=) c.*2065G= (n.*2065G=) c.1815G= (p.Ala605=) c.1402-10418G= (n.1402-10418G=) c.2151G= (p.Ala717=) c.2331G= (p.Ala777=) c.1998G= (p.Ala666=) | |
7 | g.117592408G>T | CA457449522 | CFTR | c.2241G>T (p.Ala747=) c.*1955G>T (n.*1955G>T) c.2058G>T (p.Ala686=) c.*541G>T (n.*541G>T) c.*2065G>T (n.*2065G>T) c.1815G>T (p.Ala605=) c.1402-10418G>T (n.1402-10418G>T) c.2151G>T (p.Ala717=) c.2331G>T (p.Ala777=) c.1998G>T (p.Ala666=) | |
7 | g.117592409A>C | CA368980586 | CFTR | c.2242A>C (p.Ile748Leu) c.*1956A>C (n.*1956A>C) c.2059A>C (p.Ile687Leu) c.*542A>C (n.*542A>C) c.*2066A>C (n.*2066A>C) c.1816A>C (p.Ile606Leu) c.1402-10417A>C (n.1402-10417A>C) c.2152A>C (p.Ile718Leu) c.2332A>C (p.Ile778Leu) c.1999A>C (p.Ile667Leu) | |
7 | g.117592409A>G | CA368980588 | CFTR | c.2242A>G (p.Ile748Val) c.*1956A>G (n.*1956A>G) c.2059A>G (p.Ile687Val) c.*542A>G (n.*542A>G) c.*2066A>G (n.*2066A>G) c.1816A>G (p.Ile606Val) c.1402-10417A>G (n.1402-10417A>G) c.2152A>G (p.Ile718Val) c.2332A>G (p.Ile778Val) c.1999A>G (p.Ile667Val) | |
7 | g.117592409A>T | CA368980590 | CFTR | c.2242A>T (p.Ile748Leu) c.*1956A>T (n.*1956A>T) c.2059A>T (p.Ile687Leu) c.*542A>T (n.*542A>T) c.*2066A>T (n.*2066A>T) c.1816A>T (p.Ile606Leu) c.1402-10417A>T (n.1402-10417A>T) c.2152A>T (p.Ile718Leu) c.2332A>T (p.Ile778Leu) c.1999A>T (p.Ile667Leu) | |
7 | g.117592410T>A | CA368980593 | CFTR | c.2243T>A (p.Ile748Lys) c.*1957T>A (n.*1957T>A) c.2060T>A (p.Ile687Lys) c.*543T>A (n.*543T>A) c.*2067T>A (n.*2067T>A) c.1817T>A (p.Ile606Lys) c.1402-10416T>A (n.1402-10416T>A) c.2153T>A (p.Ile718Lys) c.2333T>A (p.Ile778Lys) c.2000T>A (p.Ile667Lys) | |
7 | g.117592410T>C | CA368980595 | CFTR | c.2243T>C (p.Ile748Thr) c.*1957T>C (n.*1957T>C) c.2060T>C (p.Ile687Thr) c.*543T>C (n.*543T>C) c.*2067T>C (n.*2067T>C) c.1817T>C (p.Ile606Thr) c.1402-10416T>C (n.1402-10416T>C) c.2153T>C (p.Ile718Thr) c.2333T>C (p.Ile778Thr) c.2000T>C (p.Ile667Thr) | gnomAD v4 COSMIC |
7 | g.117592410T>G | CA368980598 | CFTR | c.2243T>G (p.Ile748Arg) c.*1957T>G (n.*1957T>G) c.2060T>G (p.Ile687Arg) c.*543T>G (n.*543T>G) c.*2067T>G (n.*2067T>G) c.1817T>G (p.Ile606Arg) c.1402-10416T>G (n.1402-10416T>G) c.2153T>G (p.Ile718Arg) c.2333T>G (p.Ile778Arg) c.2000T>G (p.Ile667Arg) | |
7 | g.117592411A>C | CA457449530 | CFTR | c.2244A>C (p.Ile748=) c.*1958A>C (n.*1958A>C) c.2061A>C (p.Ile687=) c.*544A>C (n.*544A>C) c.*2068A>C (n.*2068A>C) c.1818A>C (p.Ile606=) c.1402-10415A>C (n.1402-10415A>C) c.2154A>C (p.Ile718=) c.2334A>C (p.Ile778=) c.2001A>C (p.Ile667=) | |
7 | g.117592411A>G | CA368980600 | CFTR | c.2244A>G (p.Ile748Met) c.*1958A>G (n.*1958A>G) c.2061A>G (p.Ile687Met) c.*544A>G (n.*544A>G) c.*2068A>G (n.*2068A>G) c.1818A>G (p.Ile606Met) c.1402-10415A>G (n.1402-10415A>G) c.2154A>G (p.Ile718Met) c.2334A>G (p.Ile778Met) c.2001A>G (p.Ile667Met) | |
7 | g.117592411A>T | CA457449531 | CFTR | c.2244A>T (p.Ile748=) c.*1958A>T (n.*1958A>T) c.2061A>T (p.Ile687=) c.*544A>T (n.*544A>T) c.*2068A>T (n.*2068A>T) c.1818A>T (p.Ile606=) c.1402-10415A>T (n.1402-10415A>T) c.2154A>T (p.Ile718=) c.2334A>T (p.Ile778=) c.2001A>T (p.Ile667=) | |
7 | g.117592412C>A | CA368980604 | CFTR | c.2245C>A (p.Leu749Met) c.*1959C>A (n.*1959C>A) c.2062C>A (p.Leu688Met) c.*545C>A (n.*545C>A) c.*2069C>A (n.*2069C>A) c.1819C>A (p.Leu607Met) c.1402-10414C>A (n.1402-10414C>A) c.2155C>A (p.Leu719Met) c.2335C>A (p.Leu779Met) c.2002C>A (p.Leu668Met) | dbSNP |
7 | g.117592412C= | CA1737395080 | CFTR | c.2245C= (p.Leu749=) c.*1959C= (n.*1959C=) c.2062C= (p.Leu688=) c.*545C= (n.*545C=) c.*2069C= (n.*2069C=) c.1819C= (p.Leu607=) c.1402-10414C= (n.1402-10414C=) c.2155C= (p.Leu719=) c.2335C= (p.Leu779=) c.2002C= (p.Leu668=) | |
7 | g.117592412C>G | CA368980607 | CFTR | c.2245C>G (p.Leu749Val) c.*1959C>G (n.*1959C>G) c.2062C>G (p.Leu688Val) c.*545C>G (n.*545C>G) c.*2069C>G (n.*2069C>G) c.1819C>G (p.Leu607Val) c.1402-10414C>G (n.1402-10414C>G) c.2155C>G (p.Leu719Val) c.2335C>G (p.Leu779Val) c.2002C>G (p.Leu668Val) | |
7 | g.117592412C>T | CA4451158 | CFTR | c.2245C>T (p.Leu749=) c.*1959C>T (n.*1959C>T) c.2062C>T (p.Leu688=) c.*545C>T (n.*545C>T) c.*2069C>T (n.*2069C>T) c.1819C>T (p.Leu607=) c.1402-10414C>T (n.1402-10414C>T) c.2155C>T (p.Leu719=) c.2335C>T (p.Leu779=) c.2002C>T (p.Leu668=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592413_117592415del | CA2684619360 | CFTR | c.2246_2248del (p.Leu749del) c.*1960_*1962del (n.*1960_*1962del) c.2063_2065del (p.Leu688del) c.*546_*548del (n.*546_*548del) c.*2070_*2072del (n.*2070_*2072del) c.1820_1822del (p.Leu607del) c.1402-10413_1402-10411del (n.1402-10413_1402-10411del) c.2156_2158del (p.Leu719del) c.2336_2338del (p.Leu779del) c.2003_2005del (p.Leu668del) | gnomAD v4 |
7 | g.117592413T>A | CA368980619 | CFTR | c.2246T>A (p.Leu749Gln) c.*1960T>A (n.*1960T>A) c.2063T>A (p.Leu688Gln) c.*546T>A (n.*546T>A) c.*2070T>A (n.*2070T>A) c.1820T>A (p.Leu607Gln) c.1402-10413T>A (n.1402-10413T>A) c.2156T>A (p.Leu719Gln) c.2336T>A (p.Leu779Gln) c.2003T>A (p.Leu668Gln) | gnomAD v4 |
7 | g.117592413T>C | CA368980616 | CFTR | c.2246T>C (p.Leu749Pro) c.*1960T>C (n.*1960T>C) c.2063T>C (p.Leu688Pro) c.*546T>C (n.*546T>C) c.*2070T>C (n.*2070T>C) c.1820T>C (p.Leu607Pro) c.1402-10413T>C (n.1402-10413T>C) c.2156T>C (p.Leu719Pro) c.2336T>C (p.Leu779Pro) c.2003T>C (p.Leu668Pro) | |
7 | g.117592413T>G | CA368980614 | CFTR | c.2246T>G (p.Leu749Arg) c.*1960T>G (n.*1960T>G) c.2063T>G (p.Leu688Arg) c.*546T>G (n.*546T>G) c.*2070T>G (n.*2070T>G) c.1820T>G (p.Leu607Arg) c.1402-10413T>G (n.1402-10413T>G) c.2156T>G (p.Leu719Arg) c.2336T>G (p.Leu779Arg) c.2003T>G (p.Leu668Arg) | |
7 | g.117592414G>A | CA457449544 | CFTR | c.2247G>A (p.Leu749=) c.*1961G>A (n.*1961G>A) c.2064G>A (p.Leu688=) c.*547G>A (n.*547G>A) c.*2071G>A (n.*2071G>A) c.1821G>A (p.Leu607=) c.1402-10412G>A (n.1402-10412G>A) c.2157G>A (p.Leu719=) c.2337G>A (p.Leu779=) c.2004G>A (p.Leu668=) | |
7 | g.117592414G>C | CA457449546 | CFTR | c.2247G>C (p.Leu749=) c.*1961G>C (n.*1961G>C) c.2064G>C (p.Leu688=) c.*547G>C (n.*547G>C) c.*2071G>C (n.*2071G>C) c.1821G>C (p.Leu607=) c.1402-10412G>C (n.1402-10412G>C) c.2157G>C (p.Leu719=) c.2337G>C (p.Leu779=) c.2004G>C (p.Leu668=) | dbSNP |
7 | g.117592414G= | CA1737395085 | CFTR | c.2247G= (p.Leu749=) c.*1961G= (n.*1961G=) c.2064G= (p.Leu688=) c.*547G= (n.*547G=) c.*2071G= (n.*2071G=) c.1821G= (p.Leu607=) c.1402-10412G= (n.1402-10412G=) c.2157G= (p.Leu719=) c.2337G= (p.Leu779=) c.2004G= (p.Leu668=) | |
7 | g.117592414G>T | CA457449548 | CFTR | c.2247G>T (p.Leu749=) c.*1961G>T (n.*1961G>T) c.2064G>T (p.Leu688=) c.*547G>T (n.*547G>T) c.*2071G>T (n.*2071G>T) c.1821G>T (p.Leu607=) c.1402-10412G>T (n.1402-10412G>T) c.2157G>T (p.Leu719=) c.2337G>T (p.Leu779=) c.2004G>T (p.Leu668=) | |
7 | g.117592414_117592422delinsGCCTCGCAT | CA1737395083 | CFTR | c.2247_2255delinsGCCTCGCAT (p.Leu749=) c.*1961_*1969delinsGCCTCGCAT (n.*1961_*1969delinsGCCTCGCAT) c.2064_2072delinsGCCTCGCAT (p.Leu688=) c.*547_*555delinsGCCTCGCAT (n.*547_*555delinsGCCTCGCAT) c.*2071_*2079delinsGCCTCGCAT (n.*2071_*2079delinsGCCTCGCAT) c.1821_1829delinsGCCTCGCAT (p.Leu607=) c.1402-10412_1402-10404delinsGCCTCGCAT (n.1402-10412_1402-10404delinsGCCTCGCAT) c.2157_2165delinsGCCTCGCAT (p.Leu719=) c.2337_2345delinsGCCTCGCAT (p.Leu779=) c.2004_2012delinsGCCTCGCAT (p.Leu668=) | |
7 | g.117592415C>A | CA368980622 | CFTR | c.2248C>A (p.Pro750Thr) c.*1962C>A (n.*1962C>A) c.2065C>A (p.Pro689Thr) c.*548C>A (n.*548C>A) c.*2072C>A (n.*2072C>A) c.1822C>A (p.Pro608Thr) c.1402-10411C>A (n.1402-10411C>A) c.2158C>A (p.Pro720Thr) c.2338C>A (p.Pro780Thr) c.2005C>A (p.Pro669Thr) | ClinVar |
7 | g.117592415C>G | CA368980624 | CFTR | c.2248C>G (p.Pro750Ala) c.*1962C>G (n.*1962C>G) c.2065C>G (p.Pro689Ala) c.*548C>G (n.*548C>G) c.*2072C>G (n.*2072C>G) c.1822C>G (p.Pro608Ala) c.1402-10411C>G (n.1402-10411C>G) c.2158C>G (p.Pro720Ala) c.2338C>G (p.Pro780Ala) c.2005C>G (p.Pro669Ala) | |
7 | g.117592415C>T | CA368980626 | CFTR | c.2248C>T (p.Pro750Ser) c.*1962C>T (n.*1962C>T) c.2065C>T (p.Pro689Ser) c.*548C>T (n.*548C>T) c.*2072C>T (n.*2072C>T) c.1822C>T (p.Pro608Ser) c.1402-10411C>T (n.1402-10411C>T) c.2158C>T (p.Pro720Ser) c.2338C>T (p.Pro780Ser) c.2005C>T (p.Pro669Ser) | |
7 | g.117592416_117592423del | CA326775 | CFTR | c.2249_2256del (p.Pro750GlnfsTer26) c.*1963_*1970del (n.*1963_*1970del) c.2066_2073del (p.Pro689GlnfsTer26) c.*549_*556del (n.*549_*556del) c.*2073_*2080del (n.*2073_*2080del) c.1823_1830del (p.Pro608GlnfsTer26) c.1402-10410_1402-10403del (n.1402-10410_1402-10403del) c.2159_2166del (p.Pro720GlnfsTer26) c.2339_2346del (p.Pro780GlnfsTer26) c.2006_2013del (p.Pro669GlnfsTer26) | ClinVar dbSNP |
7 | g.117592416C>A | CA368980630 | CFTR | c.2249C>A (p.Pro750His) c.*1963C>A (n.*1963C>A) c.2066C>A (p.Pro689His) c.*549C>A (n.*549C>A) c.*2073C>A (n.*2073C>A) c.1823C>A (p.Pro608His) c.1402-10410C>A (n.1402-10410C>A) c.2159C>A (p.Pro720His) c.2339C>A (p.Pro780His) c.2006C>A (p.Pro669His) | |
7 | g.117592416C= | CA1737395094 | CFTR | c.2249C= (p.Pro750=) c.*1963C= (n.*1963C=) c.2066C= (p.Pro689=) c.*549C= (n.*549C=) c.*2073C= (n.*2073C=) c.1823C= (p.Pro608=) c.1402-10410C= (n.1402-10410C=) c.2159C= (p.Pro720=) c.2339C= (p.Pro780=) c.2006C= (p.Pro669=) | |
7 | g.117592416C>G | CA368980632 | CFTR | c.2249C>G (p.Pro750Arg) c.*1963C>G (n.*1963C>G) c.2066C>G (p.Pro689Arg) c.*549C>G (n.*549C>G) c.*2073C>G (n.*2073C>G) c.1823C>G (p.Pro608Arg) c.1402-10410C>G (n.1402-10410C>G) c.2159C>G (p.Pro720Arg) c.2339C>G (p.Pro780Arg) c.2006C>G (p.Pro669Arg) | |
7 | g.117592416C>T | CA221011 | CFTR | c.2249C>T (p.Pro750Leu) c.*1963C>T (n.*1963C>T) c.2066C>T (p.Pro689Leu) c.*549C>T (n.*549C>T) c.*2073C>T (n.*2073C>T) c.1823C>T (p.Pro608Leu) c.1402-10410C>T (n.1402-10410C>T) c.2159C>T (p.Pro720Leu) c.2339C>T (p.Pro780Leu) c.2006C>T (p.Pro669Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592417T>A | CA457449554 | CFTR | c.2250T>A (p.Pro750=) c.*1964T>A (n.*1964T>A) c.2067T>A (p.Pro689=) c.*550T>A (n.*550T>A) c.*2074T>A (n.*2074T>A) c.1824T>A (p.Pro608=) c.1402-10409T>A (n.1402-10409T>A) c.2160T>A (p.Pro720=) c.2340T>A (p.Pro780=) c.2007T>A (p.Pro669=) | |
7 | g.117592417T>C | CA457449555 | CFTR | c.2250T>C (p.Pro750=) c.*1964T>C (n.*1964T>C) c.2067T>C (p.Pro689=) c.*550T>C (n.*550T>C) c.*2074T>C (n.*2074T>C) c.1824T>C (p.Pro608=) c.1402-10409T>C (n.1402-10409T>C) c.2160T>C (p.Pro720=) c.2340T>C (p.Pro780=) c.2007T>C (p.Pro669=) | |
7 | g.117592417T>G | CA457449556 | CFTR | c.2250T>G (p.Pro750=) c.*1964T>G (n.*1964T>G) c.2067T>G (p.Pro689=) c.*550T>G (n.*550T>G) c.*2074T>G (n.*2074T>G) c.1824T>G (p.Pro608=) c.1402-10409T>G (n.1402-10409T>G) c.2160T>G (p.Pro720=) c.2340T>G (p.Pro780=) c.2007T>G (p.Pro669=) | |
7 | g.117592418C>A | CA368980639 | CFTR | c.2251C>A (p.Arg751Ser) c.*1965C>A (n.*1965C>A) c.2068C>A (p.Arg690Ser) c.*551C>A (n.*551C>A) c.*2075C>A (n.*2075C>A) c.1825C>A (p.Arg609Ser) c.1402-10408C>A (n.1402-10408C>A) c.2161C>A (p.Arg721Ser) c.2341C>A (p.Arg781Ser) c.2008C>A (p.Arg670Ser) | |
7 | g.117592418C= | CA1737395098 | CFTR | c.2251C= (p.Arg751=) c.*1965C= (n.*1965C=) c.2068C= (p.Arg690=) c.*551C= (n.*551C=) c.*2075C= (n.*2075C=) c.1825C= (p.Arg609=) c.1402-10408C= (n.1402-10408C=) c.2161C= (p.Arg721=) c.2341C= (p.Arg781=) c.2008C= (p.Arg670=) | |
7 | g.117592418C>G | CA368980643 | CFTR | c.2251C>G (p.Arg751Gly) c.*1965C>G (n.*1965C>G) c.2068C>G (p.Arg690Gly) c.*551C>G (n.*551C>G) c.*2075C>G (n.*2075C>G) c.1825C>G (p.Arg609Gly) c.1402-10408C>G (n.1402-10408C>G) c.2161C>G (p.Arg721Gly) c.2341C>G (p.Arg781Gly) c.2008C>G (p.Arg670Gly) | gnomAD v4 |
7 | g.117592418C>T | CA4451159 | CFTR | c.2251C>T (p.Arg751Cys) c.*1965C>T (n.*1965C>T) c.2068C>T (p.Arg690Cys) c.*551C>T (n.*551C>T) c.*2075C>T (n.*2075C>T) c.1825C>T (p.Arg609Cys) c.1402-10408C>T (n.1402-10408C>T) c.2161C>T (p.Arg721Cys) c.2341C>T (p.Arg781Cys) c.2008C>T (p.Arg670Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592419G>A | CA4451160 | CFTR | c.2252G>A (p.Arg751His) c.*1966G>A (n.*1966G>A) c.2069G>A (p.Arg690His) c.*552G>A (n.*552G>A) c.*2076G>A (n.*2076G>A) c.1826G>A (p.Arg609His) c.1402-10407G>A (n.1402-10407G>A) c.2162G>A (p.Arg721His) c.2342G>A (p.Arg781His) c.2009G>A (p.Arg670His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.117592419G>C | CA326778 | CFTR | c.2252G>C (p.Arg751Pro) c.*1966G>C (n.*1966G>C) c.2069G>C (p.Arg690Pro) c.*552G>C (n.*552G>C) c.*2076G>C (n.*2076G>C) c.1826G>C (p.Arg609Pro) c.1402-10407G>C (n.1402-10407G>C) c.2162G>C (p.Arg721Pro) c.2342G>C (p.Arg781Pro) c.2009G>C (p.Arg670Pro) | dbSNP |
7 | g.117592419G= | CA1737395104 | CFTR | c.2252G= (p.Arg751=) c.*1966G= (n.*1966G=) c.2069G= (p.Arg690=) c.*552G= (n.*552G=) c.*2076G= (n.*2076G=) c.1826G= (p.Arg609=) c.1402-10407G= (n.1402-10407G=) c.2162G= (p.Arg721=) c.2342G= (p.Arg781=) c.2009G= (p.Arg670=) | |
7 | g.117592419G>T | CA10581251 | CFTR | c.2252G>T (p.Arg751Leu) c.*1966G>T (n.*1966G>T) c.2069G>T (p.Arg690Leu) c.*552G>T (n.*552G>T) c.*2076G>T (n.*2076G>T) c.1826G>T (p.Arg609Leu) c.1402-10407G>T (n.1402-10407G>T) c.2162G>T (p.Arg721Leu) c.2342G>T (p.Arg781Leu) c.2009G>T (p.Arg670Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592420C>A | CA457449558 | CFTR | c.2253C>A (p.Arg751=) c.*1967C>A (n.*1967C>A) c.2070C>A (p.Arg690=) c.*553C>A (n.*553C>A) c.*2077C>A (n.*2077C>A) c.1827C>A (p.Arg609=) c.1402-10406C>A (n.1402-10406C>A) c.2163C>A (p.Arg721=) c.2343C>A (p.Arg781=) c.2010C>A (p.Arg670=) | |
7 | g.117592420C= | CA1737395110 | CFTR | c.2253C= (p.Arg751=) c.*1967C= (n.*1967C=) c.2070C= (p.Arg690=) c.*553C= (n.*553C=) c.*2077C= (n.*2077C=) c.1827C= (p.Arg609=) c.1402-10406C= (n.1402-10406C=) c.2163C= (p.Arg721=) c.2343C= (p.Arg781=) c.2010C= (p.Arg670=) | |
7 | g.117592420C>G | CA457449559 | CFTR | c.2253C>G (p.Arg751=) c.*1967C>G (n.*1967C>G) c.2070C>G (p.Arg690=) c.*553C>G (n.*553C>G) c.*2077C>G (n.*2077C>G) c.1827C>G (p.Arg609=) c.1402-10406C>G (n.1402-10406C>G) c.2163C>G (p.Arg721=) c.2343C>G (p.Arg781=) c.2010C>G (p.Arg670=) | |
7 | g.117592420C>T | CA4451161 | CFTR | c.2253C>T (p.Arg751=) c.*1967C>T (n.*1967C>T) c.2070C>T (p.Arg690=) c.*553C>T (n.*553C>T) c.*2077C>T (n.*2077C>T) c.1827C>T (p.Arg609=) c.1402-10406C>T (n.1402-10406C>T) c.2163C>T (p.Arg721=) c.2343C>T (p.Arg781=) c.2010C>T (p.Arg670=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |