UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117591251_117595608delinsCTACATTTGTACTA | CA2580076490 | CFTR | c.1767-683_2619+550delinsCTACATTTGTACTA c.*1481-683_*2333+550delinsCTACATTTGTACTA c.1584-683_2436+550delinsCTACATTTGTACTA c.*67-683_*919+550delinsCTACATTTGTACTA c.*1591-683_*2443+550delinsCTACATTTGTACTA c.1341-683_2193+550delinsCTACATTTGTACTA c.1402-11575_1402-7218delinsCTACATTTGTACTA (n.1402-11575_1402-7218delinsCTACATTTGTACTA) c.1677-683_2529+550delinsCTACATTTGTACTA c.1857-683_2709+550delinsCTACATTTGTACTA c.1524-683_2376+550delinsCTACATTTGTACTA | ClinVar |
| 7 | g.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) | |
| 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 |