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.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.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 |
| 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=) | 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) | |
| 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) |