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.117592316A>C | CA368980022 | CFTR | c.2149A>C (p.Thr717Pro) c.*1863A>C (n.*1863A>C) c.1966A>C (p.Thr656Pro) c.*449A>C (n.*449A>C) c.*1973A>C (n.*1973A>C) c.1723A>C (p.Thr575Pro) c.1402-10510A>C (n.1402-10510A>C) c.2059A>C (p.Thr687Pro) c.2239A>C (p.Thr747Pro) c.1906A>C (p.Thr636Pro) | |
| 7 | g.117592316A>G | CA368980025 | CFTR | c.2149A>G (p.Thr717Ala) c.*1863A>G (n.*1863A>G) c.1966A>G (p.Thr656Ala) c.*449A>G (n.*449A>G) c.*1973A>G (n.*1973A>G) c.1723A>G (p.Thr575Ala) c.1402-10510A>G (n.1402-10510A>G) c.2059A>G (p.Thr687Ala) c.2239A>G (p.Thr747Ala) c.1906A>G (p.Thr636Ala) | gnomAD v4 |
| 7 | g.117592316A>T | CA368980029 | CFTR | c.2149A>T (p.Thr717Ser) c.*1863A>T (n.*1863A>T) c.1966A>T (p.Thr656Ser) c.*449A>T (n.*449A>T) c.*1973A>T (n.*1973A>T) c.1723A>T (p.Thr575Ser) c.1402-10510A>T (n.1402-10510A>T) c.2059A>T (p.Thr687Ser) c.2239A>T (p.Thr747Ser) c.1906A>T (p.Thr636Ser) | |
| 7 | g.117592317C>A | CA368980030 | CFTR | c.2150C>A (p.Thr717Asn) c.*1864C>A (n.*1864C>A) c.1967C>A (p.Thr656Asn) c.*450C>A (n.*450C>A) c.*1974C>A (n.*1974C>A) c.1724C>A (p.Thr575Asn) c.1402-10509C>A (n.1402-10509C>A) c.2060C>A (p.Thr687Asn) c.2240C>A (p.Thr747Asn) c.1907C>A (p.Thr636Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117592317C= | CA1737394891 | CFTR | c.2150C= (p.Thr717=) c.*1864C= (n.*1864C=) c.1967C= (p.Thr656=) c.*450C= (n.*450C=) c.*1974C= (n.*1974C=) c.1724C= (p.Thr575=) c.1402-10509C= (n.1402-10509C=) c.2060C= (p.Thr687=) c.2240C= (p.Thr747=) c.1907C= (p.Thr636=) | |
| 7 | g.117592317C>G | CA368980032 | CFTR | c.2150C>G (p.Thr717Ser) c.*1864C>G (n.*1864C>G) c.1967C>G (p.Thr656Ser) c.*450C>G (n.*450C>G) c.*1974C>G (n.*1974C>G) c.1724C>G (p.Thr575Ser) c.1402-10509C>G (n.1402-10509C>G) c.2060C>G (p.Thr687Ser) c.2240C>G (p.Thr747Ser) c.1907C>G (p.Thr636Ser) | |
| 7 | g.117592317C>T | CA4451148 | CFTR | c.2150C>T (p.Thr717Ile) c.*1864C>T (n.*1864C>T) c.1967C>T (p.Thr656Ile) c.*450C>T (n.*450C>T) c.*1974C>T (n.*1974C>T) c.1724C>T (p.Thr575Ile) c.1402-10509C>T (n.1402-10509C>T) c.2060C>T (p.Thr687Ile) c.2240C>T (p.Thr747Ile) c.1907C>T (p.Thr636Ile) | dbSNP ExAC gnomAD v4 |
| 7 | g.117592318T>A | CA457449382 | CFTR | c.2151T>A (p.Thr717=) c.*1865T>A (n.*1865T>A) c.1968T>A (p.Thr656=) c.*451T>A (n.*451T>A) c.*1975T>A (n.*1975T>A) c.1725T>A (p.Thr575=) c.1402-10508T>A (n.1402-10508T>A) c.2061T>A (p.Thr687=) c.2241T>A (p.Thr747=) c.1908T>A (p.Thr636=) | |
| 7 | g.117592318T>C | CA457449383 | CFTR | c.2151T>C (p.Thr717=) c.*1865T>C (n.*1865T>C) c.1968T>C (p.Thr656=) c.*451T>C (n.*451T>C) c.*1975T>C (n.*1975T>C) c.1725T>C (p.Thr575=) c.1402-10508T>C (n.1402-10508T>C) c.2061T>C (p.Thr687=) c.2241T>C (p.Thr747=) c.1908T>C (p.Thr636=) | ClinVar |
| 7 | g.117592318T>G | CA457449384 | CFTR | c.2151T>G (p.Thr717=) c.*1865T>G (n.*1865T>G) c.1968T>G (p.Thr656=) c.*451T>G (n.*451T>G) c.*1975T>G (n.*1975T>G) c.1725T>G (p.Thr575=) c.1402-10508T>G (n.1402-10508T>G) c.2061T>G (p.Thr687=) c.2241T>G (p.Thr747=) c.1908T>G (p.Thr636=) | ClinVar dbSNP |
| 7 | g.117592319C>A | CA368980038 | CFTR | c.2152C>A (p.Pro718Thr) c.*1866C>A (n.*1866C>A) c.1969C>A (p.Pro657Thr) c.*452C>A (n.*452C>A) c.*1976C>A (n.*1976C>A) c.1726C>A (p.Pro576Thr) c.1402-10507C>A (n.1402-10507C>A) c.2062C>A (p.Pro688Thr) c.2242C>A (p.Pro748Thr) c.1909C>A (p.Pro637Thr) | |
| 7 | g.117592319C>G | CA368980041 | CFTR | c.2152C>G (p.Pro718Ala) c.*1866C>G (n.*1866C>G) c.1969C>G (p.Pro657Ala) c.*452C>G (n.*452C>G) c.*1976C>G (n.*1976C>G) c.1726C>G (p.Pro576Ala) c.1402-10507C>G (n.1402-10507C>G) c.2062C>G (p.Pro688Ala) c.2242C>G (p.Pro748Ala) c.1909C>G (p.Pro637Ala) | |
| 7 | g.117592319C>T | CA368980046 | CFTR | c.2152C>T (p.Pro718Ser) c.*1866C>T (n.*1866C>T) c.1969C>T (p.Pro657Ser) c.*452C>T (n.*452C>T) c.*1976C>T (n.*1976C>T) c.1726C>T (p.Pro576Ser) c.1402-10507C>T (n.1402-10507C>T) c.2062C>T (p.Pro688Ser) c.2242C>T (p.Pro748Ser) c.1909C>T (p.Pro637Ser) | 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) |