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.117592537_117592543delinsCACACGA | CA1737395339 | CFTR | c.2370_2376delinsCACACGA (p.Ser790=) c.*2084_*2090delinsCACACGA (n.*2084_*2090delinsCACACGA) c.2187_2193delinsCACACGA (p.Ser729=) c.*670_*676delinsCACACGA (n.*670_*676delinsCACACGA) c.*2194_*2200delinsCACACGA (n.*2194_*2200delinsCACACGA) c.1944_1950delinsCACACGA (p.Ser648=) c.20_26delinsCACACGA c.1402-10289_1402-10283delinsCACACGA (n.1402-10289_1402-10283delinsCACACGA) c.2280_2286delinsCACACGA (p.Ser760=) c.2460_2466delinsCACACGA (p.Ser820=) c.2127_2133delinsCACACGA (p.Ser709=) | |
7 | g.117592539_117592544del | CA913190195 | CFTR | c.2372_2377del (p.Thr791_Arg792del) c.*2086_*2091del (n.*2086_*2091del) c.2189_2194del (p.Thr730_Arg731del) c.*672_*677del (n.*672_*677del) c.*2196_*2201del (n.*2196_*2201del) c.1946_1951del (p.Thr649_Arg650del) c.22_27del c.1402-10287_1402-10282del (n.1402-10287_1402-10282del) c.2282_2287del (p.Thr761_Arg762del) c.2462_2467del (p.Thr821_Arg822del) c.2129_2134del (p.Thr710_Arg711del) | ClinVar dbSNP |
7 | g.117592540_117592544delinsCC | CA2580614249 | CFTR | c.2373_2377delinsCC (p.Arg792_Lys793delinsGln) c.*2087_*2091delinsCC (n.*2087_*2091delinsCC) c.2190_2194delinsCC (p.Arg731_Lys732delinsGln) c.*673_*677delinsCC (n.*673_*677delinsCC) c.*2197_*2201delinsCC (n.*2197_*2201delinsCC) c.1947_1951delinsCC (p.Arg650_Lys651delinsGln) c.23_27delinsCC c.1402-10286_1402-10282delinsCC (n.1402-10286_1402-10282delinsCC) c.2283_2287delinsCC (p.Arg762_Lys763delinsGln) c.2463_2467delinsCC (p.Arg822_Lys823delinsGln) c.2130_2134delinsCC (p.Arg711_Lys712delinsGln) | ClinVar |
7 | g.117592541C>A | CA457449914 | CFTR | c.2374C>A (p.Arg792=) c.*2088C>A (n.*2088C>A) c.2191C>A (p.Arg731=) c.*674C>A (n.*674C>A) c.*2198C>A (n.*2198C>A) c.1948C>A (p.Arg650=) c.24C>A c.1402-10285C>A (n.1402-10285C>A) c.2284C>A (p.Arg762=) c.2464C>A (p.Arg822=) c.2131C>A (p.Arg711=) | ClinVar |
7 | g.117592541C= | CA1737395455 | CFTR | c.2374C= (p.Arg792=) c.*2088C= (n.*2088C=) c.2191C= (p.Arg731=) c.*674C= (n.*674C=) c.*2198C= (n.*2198C=) c.1948C= (p.Arg650=) c.24C= c.1402-10285C= (n.1402-10285C=) c.2284C= (p.Arg762=) c.2464C= (p.Arg822=) c.2131C= (p.Arg711=) | |
7 | g.117592541C>G | CA326806 | CFTR | c.2374C>G (p.Arg792Gly) c.*2088C>G (n.*2088C>G) c.2191C>G (p.Arg731Gly) c.*674C>G (n.*674C>G) c.*2198C>G (n.*2198C>G) c.1948C>G (p.Arg650Gly) c.24C>G c.1402-10285C>G (n.1402-10285C>G) c.2284C>G (p.Arg762Gly) c.2464C>G (p.Arg822Gly) c.2131C>G (p.Arg711Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592541C>T | CA326807 | CFTR | c.2374C>T (p.Arg792Ter) c.*2088C>T (n.*2088C>T) c.2191C>T (p.Arg731Ter) c.*674C>T (n.*674C>T) c.*2198C>T (n.*2198C>T) c.1948C>T (p.Arg650Ter) c.24C>T c.1402-10285C>T (n.1402-10285C>T) c.2284C>T (p.Arg762Ter) c.2464C>T (p.Arg822Ter) c.2131C>T (p.Arg711Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592542G>A | CA4451178 | CFTR | c.2375G>A (p.Arg792Gln) c.*2089G>A (n.*2089G>A) c.2192G>A (p.Arg731Gln) c.*675G>A (n.*675G>A) c.*2199G>A (n.*2199G>A) c.1949G>A (p.Arg650Gln) c.25G>A c.1402-10284G>A (n.1402-10284G>A) c.2285G>A (p.Arg762Gln) c.2465G>A (p.Arg822Gln) c.2132G>A (p.Arg711Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592542G>C | CA368981080 | CFTR | c.2375G>C (p.Arg792Pro) c.*2089G>C (n.*2089G>C) c.2192G>C (p.Arg731Pro) c.*675G>C (n.*675G>C) c.*2199G>C (n.*2199G>C) c.1949G>C (p.Arg650Pro) c.25G>C c.1402-10284G>C (n.1402-10284G>C) c.2285G>C (p.Arg762Pro) c.2465G>C (p.Arg822Pro) c.2132G>C (p.Arg711Pro) | |
7 | g.117592542G= | CA1737395468 | CFTR | c.2375G= (p.Arg792=) c.*2089G= (n.*2089G=) c.2192G= (p.Arg731=) c.*675G= (n.*675G=) c.*2199G= (n.*2199G=) c.1949G= (p.Arg650=) c.25G= c.1402-10284G= (n.1402-10284G=) c.2285G= (p.Arg762=) c.2465G= (p.Arg822=) c.2132G= (p.Arg711=) | |
7 | g.117592542G>T | CA368981081 | CFTR | c.2375G>T (p.Arg792Leu) c.*2089G>T (n.*2089G>T) c.2192G>T (p.Arg731Leu) c.*675G>T (n.*675G>T) c.*2199G>T (n.*2199G>T) c.1949G>T (p.Arg650Leu) c.25G>T c.1402-10284G>T (n.1402-10284G>T) c.2285G>T (p.Arg762Leu) c.2465G>T (p.Arg822Leu) c.2132G>T (p.Arg711Leu) | |
7 | g.117592542_117592544del | CA577680773 | CFTR | c.2375_2377del (p.Arg792_Lys793delinsGln) c.*2089_*2091del (n.*2089_*2091del) c.2192_2194del (p.Arg731_Lys732delinsGln) c.*675_*677del (n.*675_*677del) c.*2199_*2201del (n.*2199_*2201del) c.1949_1951del (p.Arg650_Lys651delinsGln) c.25_27del c.1402-10284_1402-10282del (n.1402-10284_1402-10282del) c.2285_2287del (p.Arg762_Lys763delinsGln) c.2465_2467del (p.Arg822_Lys823delinsGln) c.2132_2134del (p.Arg711_Lys712delinsGln) | gnomAD v2 gnomAD v4 |
7 | g.117592543A>C | CA457449919 | CFTR | c.2376A>C (p.Arg792=) c.*2090A>C (n.*2090A>C) c.2193A>C (p.Arg731=) c.*676A>C (n.*676A>C) c.*2200A>C (n.*2200A>C) c.1950A>C (p.Arg650=) c.26A>C c.1402-10283A>C (n.1402-10283A>C) c.2286A>C (p.Arg762=) c.2466A>C (p.Arg822=) c.2133A>C (p.Arg711=) | |
7 | g.117592543A>G | CA457449920 | CFTR | c.2376A>G (p.Arg792=) c.*2090A>G (n.*2090A>G) c.2193A>G (p.Arg731=) c.*676A>G (n.*676A>G) c.*2200A>G (n.*2200A>G) c.1950A>G (p.Arg650=) c.26A>G c.1402-10283A>G (n.1402-10283A>G) c.2286A>G (p.Arg762=) c.2466A>G (p.Arg822=) c.2133A>G (p.Arg711=) | |
7 | g.117592543A>T | CA457449922 | CFTR | c.2376A>T (p.Arg792=) c.*2090A>T (n.*2090A>T) c.2193A>T (p.Arg731=) c.*676A>T (n.*676A>T) c.*2200A>T (n.*2200A>T) c.1950A>T (p.Arg650=) c.26A>T c.1402-10283A>T (n.1402-10283A>T) c.2286A>T (p.Arg762=) c.2466A>T (p.Arg822=) c.2133A>T (p.Arg711=) | |
7 | g.117592546del | CA2580076555 | CFTR | c.2379del (p.Val794CysfsTer9) c.*2093del (n.*2093del) c.2196del (p.Val733CysfsTer9) c.*679del (n.*679del) c.*2203del (n.*2203del) c.1953del (p.Val652CysfsTer9) c.29del c.1402-10280del (n.1402-10280del) c.2289del (p.Val764CysfsTer9) c.2469del (p.Val824CysfsTer9) c.2136del (p.Val713CysfsTer9) | ClinVar |
7 | g.117592544A>C | CA368981082 | CFTR | c.2377A>C (p.Lys793Gln) c.*2091A>C (n.*2091A>C) c.2194A>C (p.Lys732Gln) c.*677A>C (n.*677A>C) c.*2201A>C (n.*2201A>C) c.1951A>C (p.Lys651Gln) c.27A>C c.1402-10282A>C (n.1402-10282A>C) c.2287A>C (p.Lys763Gln) c.2467A>C (p.Lys823Gln) c.2134A>C (p.Lys712Gln) | |
7 | g.117592544A>G | CA368981083 | CFTR | c.2377A>G (p.Lys793Glu) c.*2091A>G (n.*2091A>G) c.2194A>G (p.Lys732Glu) c.*677A>G (n.*677A>G) c.*2201A>G (n.*2201A>G) c.1951A>G (p.Lys651Glu) c.27A>G c.1402-10282A>G (n.1402-10282A>G) c.2287A>G (p.Lys763Glu) c.2467A>G (p.Lys823Glu) c.2134A>G (p.Lys712Glu) | |
7 | g.117592544A>T | CA368981084 | CFTR | c.2377A>T (p.Lys793Ter) c.*2091A>T (n.*2091A>T) c.2194A>T (p.Lys732Ter) c.*677A>T (n.*677A>T) c.*2201A>T (n.*2201A>T) c.1951A>T (p.Lys651Ter) c.27A>T c.1402-10282A>T (n.1402-10282A>T) c.2287A>T (p.Lys763Ter) c.2467A>T (p.Lys823Ter) c.2134A>T (p.Lys712Ter) | |
7 | g.117592545A>C | CA368981087 | CFTR | c.2378A>C (p.Lys793Thr) c.*2092A>C (n.*2092A>C) c.2195A>C (p.Lys732Thr) c.*678A>C (n.*678A>C) c.*2202A>C (n.*2202A>C) c.1952A>C (p.Lys651Thr) c.28A>C c.1402-10281A>C (n.1402-10281A>C) c.2288A>C (p.Lys763Thr) c.2468A>C (p.Lys823Thr) c.2135A>C (p.Lys712Thr) | |
7 | g.117592545A>G | CA368981085 | CFTR | c.2378A>G (p.Lys793Arg) c.*2092A>G (n.*2092A>G) c.2195A>G (p.Lys732Arg) c.*678A>G (n.*678A>G) c.*2202A>G (n.*2202A>G) c.1952A>G (p.Lys651Arg) c.28A>G c.1402-10281A>G (n.1402-10281A>G) c.2288A>G (p.Lys763Arg) c.2468A>G (p.Lys823Arg) c.2135A>G (p.Lys712Arg) | gnomAD v4 |
7 | g.117592545A>T | CA368981086 | CFTR | c.2378A>T (p.Lys793Ile) c.*2092A>T (n.*2092A>T) c.2195A>T (p.Lys732Ile) c.*678A>T (n.*678A>T) c.*2202A>T (n.*2202A>T) c.1952A>T (p.Lys651Ile) c.28A>T c.1402-10281A>T (n.1402-10281A>T) c.2288A>T (p.Lys763Ile) c.2468A>T (p.Lys823Ile) c.2135A>T (p.Lys712Ile) | |
7 | g.117592546A>C | CA368981088 | CFTR | c.2379A>C (p.Lys793Asn) c.*2093A>C (n.*2093A>C) c.2196A>C (p.Lys732Asn) c.*679A>C (n.*679A>C) c.*2203A>C (n.*2203A>C) c.1953A>C (p.Lys651Asn) c.29A>C c.1402-10280A>C (n.1402-10280A>C) c.2289A>C (p.Lys763Asn) c.2469A>C (p.Lys823Asn) c.2136A>C (p.Lys712Asn) | |
7 | g.117592546A>G | CA457449926 | CFTR | c.2379A>G (p.Lys793=) c.*2093A>G (n.*2093A>G) c.2196A>G (p.Lys732=) c.*679A>G (n.*679A>G) c.*2203A>G (n.*2203A>G) c.1953A>G (p.Lys651=) c.29A>G c.1402-10280A>G (n.1402-10280A>G) c.2289A>G (p.Lys763=) c.2469A>G (p.Lys823=) c.2136A>G (p.Lys712=) | |
7 | g.117592546A>T | CA368981089 | CFTR | c.2379A>T (p.Lys793Asn) c.*2093A>T (n.*2093A>T) c.2196A>T (p.Lys732Asn) c.*679A>T (n.*679A>T) c.*2203A>T (n.*2203A>T) c.1953A>T (p.Lys651Asn) c.29A>T c.1402-10280A>T (n.1402-10280A>T) c.2289A>T (p.Lys763Asn) c.2469A>T (p.Lys823Asn) c.2136A>T (p.Lys712Asn) | ClinVar |
7 | g.117592547G>A | CA368981090 | CFTR | c.2380G>A (p.Val794Met) c.*2094G>A (n.*2094G>A) c.2197G>A (p.Val733Met) c.*680G>A (n.*680G>A) c.*2204G>A (n.*2204G>A) c.1954G>A (p.Val652Met) c.30G>A c.1402-10279G>A (n.1402-10279G>A) c.2290G>A (p.Val764Met) c.2470G>A (p.Val824Met) c.2137G>A (p.Val713Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592547G>C | CA368981091 | CFTR | c.2380G>C (p.Val794Leu) c.*2094G>C (n.*2094G>C) c.2197G>C (p.Val733Leu) c.*680G>C (n.*680G>C) c.*2204G>C (n.*2204G>C) c.1954G>C (p.Val652Leu) c.30G>C c.1402-10279G>C (n.1402-10279G>C) c.2290G>C (p.Val764Leu) c.2470G>C (p.Val824Leu) c.2137G>C (p.Val713Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592547G= | CA1737395470 | CFTR | c.2380G= (p.Val794=) c.*2094G= (n.*2094G=) c.2197G= (p.Val733=) c.*680G= (n.*680G=) c.*2204G= (n.*2204G=) c.1954G= (p.Val652=) c.30G= c.1402-10279G= (n.1402-10279G=) c.2290G= (p.Val764=) c.2470G= (p.Val824=) c.2137G= (p.Val713=) | |
7 | g.117592547G>T | CA368981092 | CFTR | c.2380G>T (p.Val794Leu) c.*2094G>T (n.*2094G>T) c.2197G>T (p.Val733Leu) c.*680G>T (n.*680G>T) c.*2204G>T (n.*2204G>T) c.1954G>T (p.Val652Leu) c.30G>T c.1402-10279G>T (n.1402-10279G>T) c.2290G>T (p.Val764Leu) c.2470G>T (p.Val824Leu) c.2137G>T (p.Val713Leu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592549_117592550del | CA2580617857 | CFTR | c.2382_2383del (p.Ser795ThrfsTer9) c.*2096_*2097del (n.*2096_*2097del) c.2199_2200del (p.Ser734ThrfsTer9) c.*682_*683del (n.*682_*683del) c.*2206_*2207del (n.*2206_*2207del) c.1956_1957del (p.Ser653ThrfsTer9) c.32_33del c.1402-10277_1402-10276del (n.1402-10277_1402-10276del) c.2292_2293del (p.Ser765ThrfsTer9) c.2472_2473del (p.Ser825ThrfsTer9) c.2139_2140del (p.Ser714ThrfsTer9) | ClinVar |
7 | g.117592548_117592617del | CA2695199624 | CFTR | c.2381_2450del (p.Val794AlafsTer4) c.*2095_*2164del (n.*2095_*2164del) c.2198_2267del (p.Val733AlafsTer4) c.*681_*750del (n.*681_*750del) c.*2205_*2274del (n.*2205_*2274del) c.1955_2024del (p.Val652AlafsTer4) c.31_100del c.1402-10278_1402-10209del (n.1402-10278_1402-10209del) c.2291_2360del (p.Val764AlafsTer4) c.2471_2540del (p.Val824AlafsTer4) c.2138_2207del (p.Val713AlafsTer4) | ClinVar |
7 | g.117592548T>A | CA368981093 | CFTR | c.2381T>A (p.Val794Glu) c.*2095T>A (n.*2095T>A) c.2198T>A (p.Val733Glu) c.*681T>A (n.*681T>A) c.*2205T>A (n.*2205T>A) c.1955T>A (p.Val652Glu) c.31T>A c.1402-10278T>A (n.1402-10278T>A) c.2291T>A (p.Val764Glu) c.2471T>A (p.Val824Glu) c.2138T>A (p.Val713Glu) | ClinVar |
7 | g.117592548T>C | CA368981094 | CFTR | c.2381T>C (p.Val794Ala) c.*2095T>C (n.*2095T>C) c.2198T>C (p.Val733Ala) c.*681T>C (n.*681T>C) c.*2205T>C (n.*2205T>C) c.1955T>C (p.Val652Ala) c.31T>C c.1402-10278T>C (n.1402-10278T>C) c.2291T>C (p.Val764Ala) c.2471T>C (p.Val824Ala) c.2138T>C (p.Val713Ala) | |
7 | g.117592548T>G | CA368981095 | CFTR | c.2381T>G (p.Val794Gly) c.*2095T>G (n.*2095T>G) c.2198T>G (p.Val733Gly) c.*681T>G (n.*681T>G) c.*2205T>G (n.*2205T>G) c.1955T>G (p.Val652Gly) c.31T>G c.1402-10278T>G (n.1402-10278T>G) c.2291T>G (p.Val764Gly) c.2471T>G (p.Val824Gly) c.2138T>G (p.Val713Gly) | |
7 | g.117592549G>A | CA457449937 | CFTR | c.2382G>A (p.Val794=) c.*2096G>A (n.*2096G>A) c.2199G>A (p.Val733=) c.*682G>A (n.*682G>A) c.*2206G>A (n.*2206G>A) c.1956G>A (p.Val652=) c.32G>A c.1402-10277G>A (n.1402-10277G>A) c.2292G>A (p.Val764=) c.2472G>A (p.Val824=) c.2139G>A (p.Val713=) | |
7 | g.117592549G>C | CA457449936 | CFTR | c.2382G>C (p.Val794=) c.*2096G>C (n.*2096G>C) c.2199G>C (p.Val733=) c.*682G>C (n.*682G>C) c.*2206G>C (n.*2206G>C) c.1956G>C (p.Val652=) c.32G>C c.1402-10277G>C (n.1402-10277G>C) c.2292G>C (p.Val764=) c.2472G>C (p.Val824=) c.2139G>C (p.Val713=) | |
7 | g.117592549G>T | CA457449935 | CFTR | c.2382G>T (p.Val794=) c.*2096G>T (n.*2096G>T) c.2199G>T (p.Val733=) c.*682G>T (n.*682G>T) c.*2206G>T (n.*2206G>T) c.1956G>T (p.Val652=) c.32G>T c.1402-10277G>T (n.1402-10277G>T) c.2292G>T (p.Val764=) c.2472G>T (p.Val824=) c.2139G>T (p.Val713=) | |
7 | g.117592550T>A | CA368981096 | CFTR | c.2383T>A (p.Ser795Thr) c.*2097T>A (n.*2097T>A) c.2200T>A (p.Ser734Thr) c.*683T>A (n.*683T>A) c.*2207T>A (n.*2207T>A) c.1957T>A (p.Ser653Thr) c.33T>A c.1402-10276T>A (n.1402-10276T>A) c.2293T>A (p.Ser765Thr) c.2473T>A (p.Ser825Thr) c.2140T>A (p.Ser714Thr) | |
7 | g.117592550T>C | CA368981097 | CFTR | c.2383T>C (p.Ser795Pro) c.*2097T>C (n.*2097T>C) c.2200T>C (p.Ser734Pro) c.*683T>C (n.*683T>C) c.*2207T>C (n.*2207T>C) c.1957T>C (p.Ser653Pro) c.33T>C c.1402-10276T>C (n.1402-10276T>C) c.2293T>C (p.Ser765Pro) c.2473T>C (p.Ser825Pro) c.2140T>C (p.Ser714Pro) | |
7 | g.117592550T>G | CA368981098 | CFTR | c.2383T>G (p.Ser795Ala) c.*2097T>G (n.*2097T>G) c.2200T>G (p.Ser734Ala) c.*683T>G (n.*683T>G) c.*2207T>G (n.*2207T>G) c.1957T>G (p.Ser653Ala) c.33T>G c.1402-10276T>G (n.1402-10276T>G) c.2293T>G (p.Ser765Ala) c.2473T>G (p.Ser825Ala) c.2140T>G (p.Ser714Ala) | |
7 | g.117592550_117592551delinsTC | CA1737395474 | CFTR | c.2383_2384delinsTC (p.Ser795=) c.*2097_*2098delinsTC (n.*2097_*2098delinsTC) c.2200_2201delinsTC (p.Ser734=) c.*683_*684delinsTC (n.*683_*684delinsTC) c.*2207_*2208delinsTC (n.*2207_*2208delinsTC) c.1957_1958delinsTC (p.Ser653=) c.33_34delinsTC c.1402-10276_1402-10275delinsTC (n.1402-10276_1402-10275delinsTC) c.2293_2294delinsTC (p.Ser765=) c.2473_2474delinsTC (p.Ser825=) c.2140_2141delinsTC (p.Ser714=) | |
7 | g.117592551del | CA164948262 | CFTR | c.2384del (p.Ser795TyrfsTer8) c.*2098del (n.*2098del) c.2201del (p.Ser734TyrfsTer8) c.*684del (n.*684del) c.*2208del (n.*2208del) c.1958del (p.Ser653TyrfsTer8) c.34del c.1402-10275del (n.1402-10275del) c.2294del (p.Ser765TyrfsTer8) c.2474del (p.Ser825TyrfsTer8) c.2141del (p.Ser714TyrfsTer8) | dbSNP |
7 | g.117592551C>A | CA368981100 | CFTR | c.2384C>A (p.Ser795Ter) c.*2098C>A (n.*2098C>A) c.2201C>A (p.Ser734Ter) c.*684C>A (n.*684C>A) c.*2208C>A (n.*2208C>A) c.1958C>A (p.Ser653Ter) c.34C>A c.1402-10275C>A (n.1402-10275C>A) c.2294C>A (p.Ser765Ter) c.2474C>A (p.Ser825Ter) c.2141C>A (p.Ser714Ter) | gnomAD v4 |
7 | g.117592551C= | CA1737395477 | CFTR | c.2384C= (p.Ser795=) c.*2098C= (n.*2098C=) c.2201C= (p.Ser734=) c.*684C= (n.*684C=) c.*2208C= (n.*2208C=) c.1958C= (p.Ser653=) c.34C= c.1402-10275C= (n.1402-10275C=) c.2294C= (p.Ser765=) c.2474C= (p.Ser825=) c.2141C= (p.Ser714=) | |
7 | g.117592551C>G | CA368981101 | CFTR | c.2384C>G (p.Ser795Ter) c.*2098C>G (n.*2098C>G) c.2201C>G (p.Ser734Ter) c.*684C>G (n.*684C>G) c.*2208C>G (n.*2208C>G) c.1958C>G (p.Ser653Ter) c.34C>G c.1402-10275C>G (n.1402-10275C>G) c.2294C>G (p.Ser765Ter) c.2474C>G (p.Ser825Ter) c.2141C>G (p.Ser714Ter) | |
7 | g.117592551C>T | CA368981099 | CFTR | c.2384C>T (p.Ser795Leu) c.*2098C>T (n.*2098C>T) c.2201C>T (p.Ser734Leu) c.*684C>T (n.*684C>T) c.*2208C>T (n.*2208C>T) c.1958C>T (p.Ser653Leu) c.34C>T c.1402-10275C>T (n.1402-10275C>T) c.2294C>T (p.Ser765Leu) c.2474C>T (p.Ser825Leu) c.2141C>T (p.Ser714Leu) | dbSNP |
7 | g.117592552A>C | CA457449948 | CFTR | c.2385A>C (p.Ser795=) c.*2099A>C (n.*2099A>C) c.2202A>C (p.Ser734=) c.*685A>C (n.*685A>C) c.*2209A>C (n.*2209A>C) c.1959A>C (p.Ser653=) c.35A>C c.1402-10274A>C (n.1402-10274A>C) c.2295A>C (p.Ser765=) c.2475A>C (p.Ser825=) c.2142A>C (p.Ser714=) | |
7 | g.117592552A>G | CA457449949 | CFTR | c.2385A>G (p.Ser795=) c.*2099A>G (n.*2099A>G) c.2202A>G (p.Ser734=) c.*685A>G (n.*685A>G) c.*2209A>G (n.*2209A>G) c.1959A>G (p.Ser653=) c.35A>G c.1402-10274A>G (n.1402-10274A>G) c.2295A>G (p.Ser765=) c.2475A>G (p.Ser825=) c.2142A>G (p.Ser714=) | |
7 | g.117592552A>T | CA457449950 | CFTR | c.2385A>T (p.Ser795=) c.*2099A>T (n.*2099A>T) c.2202A>T (p.Ser734=) c.*685A>T (n.*685A>T) c.*2209A>T (n.*2209A>T) c.1959A>T (p.Ser653=) c.35A>T c.1402-10274A>T (n.1402-10274A>T) c.2295A>T (p.Ser765=) c.2475A>T (p.Ser825=) c.2142A>T (p.Ser714=) | |
7 | g.117592553C>A | CA368981103 | CFTR | c.2386C>A (p.Leu796Met) c.*2100C>A (n.*2100C>A) c.2203C>A (p.Leu735Met) c.*686C>A (n.*686C>A) c.*2210C>A (n.*2210C>A) c.1960C>A (p.Leu654Met) c.36C>A c.1402-10273C>A (n.1402-10273C>A) c.2296C>A (p.Leu766Met) c.2476C>A (p.Leu826Met) c.2143C>A (p.Leu715Met) | |
7 | g.117592553C>G | CA368981102 | CFTR | c.2386C>G (p.Leu796Val) c.*2100C>G (n.*2100C>G) c.2203C>G (p.Leu735Val) c.*686C>G (n.*686C>G) c.*2210C>G (n.*2210C>G) c.1960C>G (p.Leu654Val) c.36C>G c.1402-10273C>G (n.1402-10273C>G) c.2296C>G (p.Leu766Val) c.2476C>G (p.Leu826Val) c.2143C>G (p.Leu715Val) | |
7 | g.117592553C>T | CA457449951 | CFTR | c.2386C>T (p.Leu796=) c.*2100C>T (n.*2100C>T) c.2203C>T (p.Leu735=) c.*686C>T (n.*686C>T) c.*2210C>T (n.*2210C>T) c.1960C>T (p.Leu654=) c.36C>T c.1402-10273C>T (n.1402-10273C>T) c.2296C>T (p.Leu766=) c.2476C>T (p.Leu826=) c.2143C>T (p.Leu715=) | gnomAD v4 |
7 | g.117592554T>A | CA368981106 | CFTR | c.2387T>A (p.Leu796Gln) c.*2101T>A (n.*2101T>A) c.2204T>A (p.Leu735Gln) c.*687T>A (n.*687T>A) c.*2211T>A (n.*2211T>A) c.1961T>A (p.Leu654Gln) c.37T>A c.1402-10272T>A (n.1402-10272T>A) c.2297T>A (p.Leu766Gln) c.2477T>A (p.Leu826Gln) c.2144T>A (p.Leu715Gln) | ClinVar gnomAD v4 |
7 | g.117592554T>C | CA368981104 | CFTR | c.2387T>C (p.Leu796Pro) c.*2101T>C (n.*2101T>C) c.2204T>C (p.Leu735Pro) c.*687T>C (n.*687T>C) c.*2211T>C (n.*2211T>C) c.1961T>C (p.Leu654Pro) c.37T>C c.1402-10272T>C (n.1402-10272T>C) c.2297T>C (p.Leu766Pro) c.2477T>C (p.Leu826Pro) c.2144T>C (p.Leu715Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592554T>G | CA368981105 | CFTR | c.2387T>G (p.Leu796Arg) c.*2101T>G (n.*2101T>G) c.2204T>G (p.Leu735Arg) c.*687T>G (n.*687T>G) c.*2211T>G (n.*2211T>G) c.1961T>G (p.Leu654Arg) c.37T>G c.1402-10272T>G (n.1402-10272T>G) c.2297T>G (p.Leu766Arg) c.2477T>G (p.Leu826Arg) c.2144T>G (p.Leu715Arg) | |
7 | g.117592554T= | CA1737395480 | CFTR | c.2387T= (p.Leu796=) c.*2101T= (n.*2101T=) c.2204T= (p.Leu735=) c.*687T= (n.*687T=) c.*2211T= (n.*2211T=) c.1961T= (p.Leu654=) c.37T= c.1402-10272T= (n.1402-10272T=) c.2297T= (p.Leu766=) c.2477T= (p.Leu826=) c.2144T= (p.Leu715=) | |
7 | g.117592555G>A | CA457449956 | CFTR | c.2388G>A (p.Leu796=) c.*2102G>A (n.*2102G>A) c.2205G>A (p.Leu735=) c.*688G>A (n.*688G>A) c.*2212G>A (n.*2212G>A) c.1962G>A (p.Leu654=) c.38G>A c.1402-10271G>A (n.1402-10271G>A) c.2298G>A (p.Leu766=) c.2478G>A (p.Leu826=) c.2145G>A (p.Leu715=) | |
7 | g.117592555G>C | CA457449959 | CFTR | c.2388G>C (p.Leu796=) c.*2102G>C (n.*2102G>C) c.2205G>C (p.Leu735=) c.*688G>C (n.*688G>C) c.*2212G>C (n.*2212G>C) c.1962G>C (p.Leu654=) c.38G>C c.1402-10271G>C (n.1402-10271G>C) c.2298G>C (p.Leu766=) c.2478G>C (p.Leu826=) c.2145G>C (p.Leu715=) | |
7 | g.117592555G>T | CA457449958 | CFTR | c.2388G>T (p.Leu796=) c.*2102G>T (n.*2102G>T) c.2205G>T (p.Leu735=) c.*688G>T (n.*688G>T) c.*2212G>T (n.*2212G>T) c.1962G>T (p.Leu654=) c.38G>T c.1402-10271G>T (n.1402-10271G>T) c.2298G>T (p.Leu766=) c.2478G>T (p.Leu826=) c.2145G>T (p.Leu715=) | |
7 | g.117592556G>A | CA368981107 | CFTR | c.2389G>A (p.Ala797Thr) c.*2103G>A (n.*2103G>A) c.2206G>A (p.Ala736Thr) c.*689G>A (n.*689G>A) c.*2213G>A (n.*2213G>A) c.1963G>A (p.Ala655Thr) c.39G>A c.1402-10270G>A (n.1402-10270G>A) c.2299G>A (p.Ala767Thr) c.2479G>A (p.Ala827Thr) c.2146G>A (p.Ala716Thr) | dbSNP gnomAD v4 |
7 | g.117592556G>C | CA368981108 | CFTR | c.2389G>C (p.Ala797Pro) c.*2103G>C (n.*2103G>C) c.2206G>C (p.Ala736Pro) c.*689G>C (n.*689G>C) c.*2213G>C (n.*2213G>C) c.1963G>C (p.Ala655Pro) c.39G>C c.1402-10270G>C (n.1402-10270G>C) c.2299G>C (p.Ala767Pro) c.2479G>C (p.Ala827Pro) c.2146G>C (p.Ala716Pro) | |
7 | g.117592556G= | CA1737395485 | CFTR | c.2389G= (p.Ala797=) c.*2103G= (n.*2103G=) c.2206G= (p.Ala736=) c.*689G= (n.*689G=) c.*2213G= (n.*2213G=) c.1963G= (p.Ala655=) c.39G= c.1402-10270G= (n.1402-10270G=) c.2299G= (p.Ala767=) c.2479G= (p.Ala827=) c.2146G= (p.Ala716=) | |
7 | g.117592556G>T | CA368981109 | CFTR | c.2389G>T (p.Ala797Ser) c.*2103G>T (n.*2103G>T) c.2206G>T (p.Ala736Ser) c.*689G>T (n.*689G>T) c.*2213G>T (n.*2213G>T) c.1963G>T (p.Ala655Ser) c.39G>T c.1402-10270G>T (n.1402-10270G>T) c.2299G>T (p.Ala767Ser) c.2479G>T (p.Ala827Ser) c.2146G>T (p.Ala716Ser) | ClinVar gnomAD v4 |
7 | g.117592557C>A | CA368981110 | CFTR | c.2390C>A (p.Ala797Asp) c.*2104C>A (n.*2104C>A) c.2207C>A (p.Ala736Asp) c.*690C>A (n.*690C>A) c.*2214C>A (n.*2214C>A) c.1964C>A (p.Ala655Asp) c.40C>A c.1402-10269C>A (n.1402-10269C>A) c.2300C>A (p.Ala767Asp) c.2480C>A (p.Ala827Asp) c.2147C>A (p.Ala716Asp) | |
7 | g.117592557C>G | CA368981111 | CFTR | c.2390C>G (p.Ala797Gly) c.*2104C>G (n.*2104C>G) c.2207C>G (p.Ala736Gly) c.*690C>G (n.*690C>G) c.*2214C>G (n.*2214C>G) c.1964C>G (p.Ala655Gly) c.40C>G c.1402-10269C>G (n.1402-10269C>G) c.2300C>G (p.Ala767Gly) c.2480C>G (p.Ala827Gly) c.2147C>G (p.Ala716Gly) | ClinVar dbSNP |
7 | g.117592557C>T | CA368981112 | CFTR | c.2390C>T (p.Ala797Val) c.*2104C>T (n.*2104C>T) c.2207C>T (p.Ala736Val) c.*690C>T (n.*690C>T) c.*2214C>T (n.*2214C>T) c.1964C>T (p.Ala655Val) c.40C>T c.1402-10269C>T (n.1402-10269C>T) c.2300C>T (p.Ala767Val) c.2480C>T (p.Ala827Val) c.2147C>T (p.Ala716Val) | |
7 | g.117592560dup | CA326809 | CFTR | c.2393dup (p.Gln799SerfsTer6) c.*2107dup (n.*2107dup) c.2210dup (p.Gln738SerfsTer6) c.*693dup (n.*693dup) c.*2217dup (n.*2217dup) c.1967dup (p.Gln657SerfsTer6) c.43dup c.1402-10266dup (n.1402-10266dup) c.2303dup (p.Gln769SerfsTer6) c.2483dup (p.Gln829SerfsTer6) c.2150dup (p.Gln718SerfsTer6) | ClinVar dbSNP |
7 | g.117592558C>A | CA164948266 | CFTR | c.2391C>A (p.Ala797=) c.*2105C>A (n.*2105C>A) c.2208C>A (p.Ala736=) c.*691C>A (n.*691C>A) c.*2215C>A (n.*2215C>A) c.1965C>A (p.Ala655=) c.41C>A c.1402-10268C>A (n.1402-10268C>A) c.2301C>A (p.Ala767=) c.2481C>A (p.Ala827=) c.2148C>A (p.Ala716=) | dbSNP gnomAD v4 |
7 | g.117592558C= | CA1737395493 | CFTR | c.2391C= (p.Ala797=) c.*2105C= (n.*2105C=) c.2208C= (p.Ala736=) c.*691C= (n.*691C=) c.*2215C= (n.*2215C=) c.1965C= (p.Ala655=) c.41C= c.1402-10268C= (n.1402-10268C=) c.2301C= (p.Ala767=) c.2481C= (p.Ala827=) c.2148C= (p.Ala716=) | |
7 | g.117592558C>G | CA457449968 | CFTR | c.2391C>G (p.Ala797=) c.*2105C>G (n.*2105C>G) c.2208C>G (p.Ala736=) c.*691C>G (n.*691C>G) c.*2215C>G (n.*2215C>G) c.1965C>G (p.Ala655=) c.41C>G c.1402-10268C>G (n.1402-10268C>G) c.2301C>G (p.Ala767=) c.2481C>G (p.Ala827=) c.2148C>G (p.Ala716=) | gnomAD v4 |
7 | g.117592558C>T | CA457449970 | CFTR | c.2391C>T (p.Ala797=) c.*2105C>T (n.*2105C>T) c.2208C>T (p.Ala736=) c.*691C>T (n.*691C>T) c.*2215C>T (n.*2215C>T) c.1965C>T (p.Ala655=) c.41C>T c.1402-10268C>T (n.1402-10268C>T) c.2301C>T (p.Ala767=) c.2481C>T (p.Ala827=) c.2148C>T (p.Ala716=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592559C>A | CA368981113 | CFTR | c.2392C>A (p.Pro798Thr) c.*2106C>A (n.*2106C>A) c.2209C>A (p.Pro737Thr) c.*692C>A (n.*692C>A) c.*2216C>A (n.*2216C>A) c.1966C>A (p.Pro656Thr) c.42C>A c.1402-10267C>A (n.1402-10267C>A) c.2302C>A (p.Pro768Thr) c.2482C>A (p.Pro828Thr) c.2149C>A (p.Pro717Thr) | |
7 | g.117592559C= | CA1737395497 | CFTR | c.2392C= (p.Pro798=) c.*2106C= (n.*2106C=) c.2209C= (p.Pro737=) c.*692C= (n.*692C=) c.*2216C= (n.*2216C=) c.1966C= (p.Pro656=) c.42C= c.1402-10267C= (n.1402-10267C=) c.2302C= (p.Pro768=) c.2482C= (p.Pro828=) c.2149C= (p.Pro717=) | |
7 | g.117592559C>G | CA368981114 | CFTR | c.2392C>G (p.Pro798Ala) c.*2106C>G (n.*2106C>G) c.2209C>G (p.Pro737Ala) c.*692C>G (n.*692C>G) c.*2216C>G (n.*2216C>G) c.1966C>G (p.Pro656Ala) c.42C>G c.1402-10267C>G (n.1402-10267C>G) c.2302C>G (p.Pro768Ala) c.2482C>G (p.Pro828Ala) c.2149C>G (p.Pro717Ala) | gnomAD v4 |
7 | g.117592559C>T | CA260215 | CFTR | c.2392C>T (p.Pro798Ser) c.*2106C>T (n.*2106C>T) c.2209C>T (p.Pro737Ser) c.*692C>T (n.*692C>T) c.*2216C>T (n.*2216C>T) c.1966C>T (p.Pro656Ser) c.42C>T c.1402-10267C>T (n.1402-10267C>T) c.2302C>T (p.Pro768Ser) c.2482C>T (p.Pro828Ser) c.2149C>T (p.Pro717Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592560C>A | CA368981115 | CFTR | c.2393C>A (p.Pro798His) c.*2107C>A (n.*2107C>A) c.2210C>A (p.Pro737His) c.*693C>A (n.*693C>A) c.*2217C>A (n.*2217C>A) c.1967C>A (p.Pro656His) c.43C>A c.1402-10266C>A (n.1402-10266C>A) c.2303C>A (p.Pro768His) c.2483C>A (p.Pro828His) c.2150C>A (p.Pro717His) | |
7 | g.117592560C= | CA1737395502 | CFTR | c.2393C= (p.Pro798=) c.*2107C= (n.*2107C=) c.2210C= (p.Pro737=) c.*693C= (n.*693C=) c.*2217C= (n.*2217C=) c.1967C= (p.Pro656=) c.43C= c.1402-10266C= (n.1402-10266C=) c.2303C= (p.Pro768=) c.2483C= (p.Pro828=) c.2150C= (p.Pro717=) | |
7 | g.117592560C>G | CA368981116 | CFTR | c.2393C>G (p.Pro798Arg) c.*2107C>G (n.*2107C>G) c.2210C>G (p.Pro737Arg) c.*693C>G (n.*693C>G) c.*2217C>G (n.*2217C>G) c.1967C>G (p.Pro656Arg) c.43C>G c.1402-10266C>G (n.1402-10266C>G) c.2303C>G (p.Pro768Arg) c.2483C>G (p.Pro828Arg) c.2150C>G (p.Pro717Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592560C>T | CA368981117 | CFTR | c.2393C>T (p.Pro798Leu) c.*2107C>T (n.*2107C>T) c.2210C>T (p.Pro737Leu) c.*693C>T (n.*693C>T) c.*2217C>T (n.*2217C>T) c.1967C>T (p.Pro656Leu) c.43C>T c.1402-10266C>T (n.1402-10266C>T) c.2303C>T (p.Pro768Leu) c.2483C>T (p.Pro828Leu) c.2150C>T (p.Pro717Leu) | |
7 | g.117592561T>A | CA457448916 | CFTR | c.2394T>A (p.Pro798=) c.*2108T>A (n.*2108T>A) c.2211T>A (p.Pro737=) c.*694T>A (n.*694T>A) c.*2218T>A (n.*2218T>A) c.1968T>A (p.Pro656=) c.44T>A c.1402-10265T>A (n.1402-10265T>A) c.2304T>A (p.Pro768=) c.2484T>A (p.Pro828=) c.2151T>A (p.Pro717=) | |
7 | g.117592561T>C | CA457448917 | CFTR | c.2394T>C (p.Pro798=) c.*2108T>C (n.*2108T>C) c.2211T>C (p.Pro737=) c.*694T>C (n.*694T>C) c.*2218T>C (n.*2218T>C) c.1968T>C (p.Pro656=) c.44T>C c.1402-10265T>C (n.1402-10265T>C) c.2304T>C (p.Pro768=) c.2484T>C (p.Pro828=) c.2151T>C (p.Pro717=) | |
7 | g.117592561T>G | CA457448918 | CFTR | c.2394T>G (p.Pro798=) c.*2108T>G (n.*2108T>G) c.2211T>G (p.Pro737=) c.*694T>G (n.*694T>G) c.*2218T>G (n.*2218T>G) c.1968T>G (p.Pro656=) c.44T>G c.1402-10265T>G (n.1402-10265T>G) c.2304T>G (p.Pro768=) c.2484T>G (p.Pro828=) c.2151T>G (p.Pro717=) | |
7 | g.117592562C>A | CA164948282 | CFTR | c.2395C>A (p.Gln799Lys) c.*2109C>A (n.*2109C>A) c.2212C>A (p.Gln738Lys) c.*695C>A (n.*695C>A) c.*2219C>A (n.*2219C>A) c.1969C>A (p.Gln657Lys) c.45C>A c.1402-10264C>A (n.1402-10264C>A) c.2305C>A (p.Gln769Lys) c.2485C>A (p.Gln829Lys) c.2152C>A (p.Gln718Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592562C= | CA1737395506 | CFTR | c.2395C= (p.Gln799=) c.*2109C= (n.*2109C=) c.2212C= (p.Gln738=) c.*695C= (n.*695C=) c.*2219C= (n.*2219C=) c.1969C= (p.Gln657=) c.45C= c.1402-10264C= (n.1402-10264C=) c.2305C= (p.Gln769=) c.2485C= (p.Gln829=) c.2152C= (p.Gln718=) | |
7 | g.117592562C>G | CA368981120 | CFTR | c.2395C>G (p.Gln799Glu) c.*2109C>G (n.*2109C>G) c.2212C>G (p.Gln738Glu) c.*695C>G (n.*695C>G) c.*2219C>G (n.*2219C>G) c.1969C>G (p.Gln657Glu) c.45C>G c.1402-10264C>G (n.1402-10264C>G) c.2305C>G (p.Gln769Glu) c.2485C>G (p.Gln829Glu) c.2152C>G (p.Gln718Glu) | |
7 | g.117592562C>T | CA368981119 | CFTR | c.2395C>T (p.Gln799Ter) c.*2109C>T (n.*2109C>T) c.2212C>T (p.Gln738Ter) c.*695C>T (n.*695C>T) c.*2219C>T (n.*2219C>T) c.1969C>T (p.Gln657Ter) c.45C>T c.1402-10264C>T (n.1402-10264C>T) c.2305C>T (p.Gln769Ter) c.2485C>T (p.Gln829Ter) c.2152C>T (p.Gln718Ter) | ClinVar dbSNP |
7 | g.117592563A= | CA1737395512 | CFTR | c.2396A= (p.Gln799=) c.*2110A= (n.*2110A=) c.2213A= (p.Gln738=) c.*696A= (n.*696A=) c.*2220A= (n.*2220A=) c.1970A= (p.Gln657=) c.46A= c.1402-10263A= (n.1402-10263A=) c.2306A= (p.Gln769=) c.2486A= (p.Gln829=) c.2153A= (p.Gln718=) | |
7 | g.117592563A>C | CA368981122 | CFTR | c.2396A>C (p.Gln799Pro) c.*2110A>C (n.*2110A>C) c.2213A>C (p.Gln738Pro) c.*696A>C (n.*696A>C) c.*2220A>C (n.*2220A>C) c.1970A>C (p.Gln657Pro) c.46A>C c.1402-10263A>C (n.1402-10263A>C) c.2306A>C (p.Gln769Pro) c.2486A>C (p.Gln829Pro) c.2153A>C (p.Gln718Pro) | |
7 | g.117592563A>G | CA368981123 | CFTR | c.2396A>G (p.Gln799Arg) c.*2110A>G (n.*2110A>G) c.2213A>G (p.Gln738Arg) c.*696A>G (n.*696A>G) c.*2220A>G (n.*2220A>G) c.1970A>G (p.Gln657Arg) c.46A>G c.1402-10263A>G (n.1402-10263A>G) c.2306A>G (p.Gln769Arg) c.2486A>G (p.Gln829Arg) c.2153A>G (p.Gln718Arg) | dbSNP gnomAD v4 |
7 | g.117592563A>T | CA368981124 | CFTR | c.2396A>T (p.Gln799Leu) c.*2110A>T (n.*2110A>T) c.2213A>T (p.Gln738Leu) c.*696A>T (n.*696A>T) c.*2220A>T (n.*2220A>T) c.1970A>T (p.Gln657Leu) c.46A>T c.1402-10263A>T (n.1402-10263A>T) c.2306A>T (p.Gln769Leu) c.2486A>T (p.Gln829Leu) c.2153A>T (p.Gln718Leu) | |
7 | g.117592564G>A | CA457448921 | CFTR | c.2397G>A (p.Gln799=) c.*2111G>A (n.*2111G>A) c.2214G>A (p.Gln738=) c.*697G>A (n.*697G>A) c.*2221G>A (n.*2221G>A) c.1971G>A (p.Gln657=) c.47G>A c.1402-10262G>A (n.1402-10262G>A) c.2307G>A (p.Gln769=) c.2487G>A (p.Gln829=) c.2154G>A (p.Gln718=) | ClinVar |
7 | g.117592564G>C | CA368981125 | CFTR | c.2397G>C (p.Gln799His) c.*2111G>C (n.*2111G>C) c.2214G>C (p.Gln738His) c.*697G>C (n.*697G>C) c.*2221G>C (n.*2221G>C) c.1971G>C (p.Gln657His) c.47G>C c.1402-10262G>C (n.1402-10262G>C) c.2307G>C (p.Gln769His) c.2487G>C (p.Gln829His) c.2154G>C (p.Gln718His) | |
7 | g.117592564G>T | CA368981127 | CFTR | c.2397G>T (p.Gln799His) c.*2111G>T (n.*2111G>T) c.2214G>T (p.Gln738His) c.*697G>T (n.*697G>T) c.*2221G>T (n.*2221G>T) c.1971G>T (p.Gln657His) c.47G>T c.1402-10262G>T (n.1402-10262G>T) c.2307G>T (p.Gln769His) c.2487G>T (p.Gln829His) c.2154G>T (p.Gln718His) | |
7 | g.117592565G>A | CA368981128 | CFTR | c.2398G>A (p.Ala800Thr) c.*2112G>A (n.*2112G>A) c.2215G>A (p.Ala739Thr) c.*698G>A (n.*698G>A) c.*2222G>A (n.*2222G>A) c.1972G>A (p.Ala658Thr) c.48G>A c.1402-10261G>A (n.1402-10261G>A) c.2308G>A (p.Ala770Thr) c.2488G>A (p.Ala830Thr) c.2155G>A (p.Ala719Thr) | gnomAD v4 |
7 | g.117592565G>C | CA368981129 | CFTR | c.2398G>C (p.Ala800Pro) c.*2112G>C (n.*2112G>C) c.2215G>C (p.Ala739Pro) c.*698G>C (n.*698G>C) c.*2222G>C (n.*2222G>C) c.1972G>C (p.Ala658Pro) c.48G>C c.1402-10261G>C (n.1402-10261G>C) c.2308G>C (p.Ala770Pro) c.2488G>C (p.Ala830Pro) c.2155G>C (p.Ala719Pro) | |
7 | g.117592565G= | CA1737395515 | CFTR | c.2398G= (p.Ala800=) c.*2112G= (n.*2112G=) c.2215G= (p.Ala739=) c.*698G= (n.*698G=) c.*2222G= (n.*2222G=) c.1972G= (p.Ala658=) c.48G= c.1402-10261G= (n.1402-10261G=) c.2308G= (p.Ala770=) c.2488G= (p.Ala830=) c.2155G= (p.Ala719=) | |
7 | g.117592565G>T | CA4451179 | CFTR | c.2398G>T (p.Ala800Ser) c.*2112G>T (n.*2112G>T) c.2215G>T (p.Ala739Ser) c.*698G>T (n.*698G>T) c.*2222G>T (n.*2222G>T) c.1972G>T (p.Ala658Ser) c.48G>T c.1402-10261G>T (n.1402-10261G>T) c.2308G>T (p.Ala770Ser) c.2488G>T (p.Ala830Ser) c.2155G>T (p.Ala719Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592566C>A | CA368981132 | CFTR | c.2399C>A (p.Ala800Glu) c.*2113C>A (n.*2113C>A) c.2216C>A (p.Ala739Glu) c.*699C>A (n.*699C>A) c.*2223C>A (n.*2223C>A) c.1973C>A (p.Ala658Glu) c.49C>A c.1402-10260C>A (n.1402-10260C>A) c.2309C>A (p.Ala770Glu) c.2489C>A (p.Ala830Glu) c.2156C>A (p.Ala719Glu) | ClinVar gnomAD v4 |
7 | g.117592566C= | CA1737395519 | CFTR | c.2399C= (p.Ala800=) c.*2113C= (n.*2113C=) c.2216C= (p.Ala739=) c.*699C= (n.*699C=) c.*2223C= (n.*2223C=) c.1973C= (p.Ala658=) c.49C= c.1402-10260C= (n.1402-10260C=) c.2309C= (p.Ala770=) c.2489C= (p.Ala830=) c.2156C= (p.Ala719=) | |
7 | g.117592566C>G | CA326810 | CFTR | c.2399C>G (p.Ala800Gly) c.*2113C>G (n.*2113C>G) c.2216C>G (p.Ala739Gly) c.*699C>G (n.*699C>G) c.*2223C>G (n.*2223C>G) c.1973C>G (p.Ala658Gly) c.49C>G c.1402-10260C>G (n.1402-10260C>G) c.2309C>G (p.Ala770Gly) c.2489C>G (p.Ala830Gly) c.2156C>G (p.Ala719Gly) | ClinVar dbSNP |
7 | g.117592566C>T | CA368981134 | CFTR | c.2399C>T (p.Ala800Val) c.*2113C>T (n.*2113C>T) c.2216C>T (p.Ala739Val) c.*699C>T (n.*699C>T) c.*2223C>T (n.*2223C>T) c.1973C>T (p.Ala658Val) c.49C>T c.1402-10260C>T (n.1402-10260C>T) c.2309C>T (p.Ala770Val) c.2489C>T (p.Ala830Val) c.2156C>T (p.Ala719Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592567A= | CA1737395524 | CFTR | c.2400A= (p.Ala800=) c.*2114A= (n.*2114A=) c.2217A= (p.Ala739=) c.*700A= (n.*700A=) c.*2224A= (n.*2224A=) c.1974A= (p.Ala658=) c.50A= c.1402-10259A= (n.1402-10259A=) c.2310A= (p.Ala770=) c.2490A= (p.Ala830=) c.2157A= (p.Ala719=) | |
7 | g.117592567A>C | CA457448924 | CFTR | c.2400A>C (p.Ala800=) c.*2114A>C (n.*2114A>C) c.2217A>C (p.Ala739=) c.*700A>C (n.*700A>C) c.*2224A>C (n.*2224A>C) c.1974A>C (p.Ala658=) c.50A>C c.1402-10259A>C (n.1402-10259A>C) c.2310A>C (p.Ala770=) c.2490A>C (p.Ala830=) c.2157A>C (p.Ala719=) | |
7 | g.117592567A>G | CA457448925 | CFTR | c.2400A>G (p.Ala800=) c.*2114A>G (n.*2114A>G) c.2217A>G (p.Ala739=) c.*700A>G (n.*700A>G) c.*2224A>G (n.*2224A>G) c.1974A>G (p.Ala658=) c.50A>G c.1402-10259A>G (n.1402-10259A>G) c.2310A>G (p.Ala770=) c.2490A>G (p.Ala830=) c.2157A>G (p.Ala719=) | |
7 | g.117592567A>T | CA164948307 | CFTR | c.2400A>T (p.Ala800=) c.*2114A>T (n.*2114A>T) c.2217A>T (p.Ala739=) c.*700A>T (n.*700A>T) c.*2224A>T (n.*2224A>T) c.1974A>T (p.Ala658=) c.50A>T c.1402-10259A>T (n.1402-10259A>T) c.2310A>T (p.Ala770=) c.2490A>T (p.Ala830=) c.2157A>T (p.Ala719=) | dbSNP |
7 | g.117592568A= | CA1737395527 | CFTR | c.2401A= (p.Asn801=) c.*2115A= (n.*2115A=) c.2218A= (p.Asn740=) c.*701A= (n.*701A=) c.*2225A= (n.*2225A=) c.1975A= (p.Asn659=) c.51A= c.1402-10258A= (n.1402-10258A=) c.2311A= (p.Asn771=) c.2491A= (p.Asn831=) c.2158A= (p.Asn720=) | |
7 | g.117592568A>C | CA368981138 | CFTR | c.2401A>C (p.Asn801His) c.*2115A>C (n.*2115A>C) c.2218A>C (p.Asn740His) c.*701A>C (n.*701A>C) c.*2225A>C (n.*2225A>C) c.1975A>C (p.Asn659His) c.51A>C c.1402-10258A>C (n.1402-10258A>C) c.2311A>C (p.Asn771His) c.2491A>C (p.Asn831His) c.2158A>C (p.Asn720His) | |
7 | g.117592568A>G | CA368981141 | CFTR | c.2401A>G (p.Asn801Asp) c.*2115A>G (n.*2115A>G) c.2218A>G (p.Asn740Asp) c.*701A>G (n.*701A>G) c.*2225A>G (n.*2225A>G) c.1975A>G (p.Asn659Asp) c.51A>G c.1402-10258A>G (n.1402-10258A>G) c.2311A>G (p.Asn771Asp) c.2491A>G (p.Asn831Asp) c.2158A>G (p.Asn720Asp) | |
7 | g.117592568A>T | CA368981139 | CFTR | c.2401A>T (p.Asn801Tyr) c.*2115A>T (n.*2115A>T) c.2218A>T (p.Asn740Tyr) c.*701A>T (n.*701A>T) c.*2225A>T (n.*2225A>T) c.1975A>T (p.Asn659Tyr) c.51A>T c.1402-10258A>T (n.1402-10258A>T) c.2311A>T (p.Asn771Tyr) c.2491A>T (p.Asn831Tyr) c.2158A>T (p.Asn720Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592569A= | CA1737395533 | CFTR | c.2402A= (p.Asn801=) c.*2116A= (n.*2116A=) c.2219A= (p.Asn740=) c.*702A= (n.*702A=) c.*2226A= (n.*2226A=) c.1976A= (p.Asn659=) c.52A= c.1402-10257A= (n.1402-10257A=) c.2312A= (p.Asn771=) c.2492A= (p.Asn831=) c.2159A= (p.Asn720=) | |
7 | g.117592569A>C | CA368981142 | CFTR | c.2402A>C (p.Asn801Thr) c.*2116A>C (n.*2116A>C) c.2219A>C (p.Asn740Thr) c.*702A>C (n.*702A>C) c.*2226A>C (n.*2226A>C) c.1976A>C (p.Asn659Thr) c.52A>C c.1402-10257A>C (n.1402-10257A>C) c.2312A>C (p.Asn771Thr) c.2492A>C (p.Asn831Thr) c.2159A>C (p.Asn720Thr) | |
7 | g.117592569A>G | CA368981144 | CFTR | c.2402A>G (p.Asn801Ser) c.*2116A>G (n.*2116A>G) c.2219A>G (p.Asn740Ser) c.*702A>G (n.*702A>G) c.*2226A>G (n.*2226A>G) c.1976A>G (p.Asn659Ser) c.52A>G c.1402-10257A>G (n.1402-10257A>G) c.2312A>G (p.Asn771Ser) c.2492A>G (p.Asn831Ser) c.2159A>G (p.Asn720Ser) | ClinVar dbSNP |
7 | g.117592569A>T | CA368981146 | CFTR | c.2402A>T (p.Asn801Ile) c.*2116A>T (n.*2116A>T) c.2219A>T (p.Asn740Ile) c.*702A>T (n.*702A>T) c.*2226A>T (n.*2226A>T) c.1976A>T (p.Asn659Ile) c.52A>T c.1402-10257A>T (n.1402-10257A>T) c.2312A>T (p.Asn771Ile) c.2492A>T (p.Asn831Ile) c.2159A>T (p.Asn720Ile) | ClinVar gnomAD v4 |
7 | g.117592570C>A | CA368981147 | CFTR | c.2403C>A (p.Asn801Lys) c.*2117C>A (n.*2117C>A) c.2220C>A (p.Asn740Lys) c.*703C>A (n.*703C>A) c.*2227C>A (n.*2227C>A) c.1977C>A (p.Asn659Lys) c.53C>A c.1402-10256C>A (n.1402-10256C>A) c.2313C>A (p.Asn771Lys) c.2493C>A (p.Asn831Lys) c.2160C>A (p.Asn720Lys) | |
7 | g.117592570C= | CA1737395537 | CFTR | c.2403C= (p.Asn801=) c.*2117C= (n.*2117C=) c.2220C= (p.Asn740=) c.*703C= (n.*703C=) c.*2227C= (n.*2227C=) c.1977C= (p.Asn659=) c.53C= c.1402-10256C= (n.1402-10256C=) c.2313C= (p.Asn771=) c.2493C= (p.Asn831=) c.2160C= (p.Asn720=) | |
7 | g.117592570C>G | CA368981148 | CFTR | c.2403C>G (p.Asn801Lys) c.*2117C>G (n.*2117C>G) c.2220C>G (p.Asn740Lys) c.*703C>G (n.*703C>G) c.*2227C>G (n.*2227C>G) c.1977C>G (p.Asn659Lys) c.53C>G c.1402-10256C>G (n.1402-10256C>G) c.2313C>G (p.Asn771Lys) c.2493C>G (p.Asn831Lys) c.2160C>G (p.Asn720Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592570C>T | CA4451180 | CFTR | c.2403C>T (p.Asn801=) c.*2117C>T (n.*2117C>T) c.2220C>T (p.Asn740=) c.*703C>T (n.*703C>T) c.*2227C>T (n.*2227C>T) c.1977C>T (p.Asn659=) c.53C>T c.1402-10256C>T (n.1402-10256C>T) c.2313C>T (p.Asn771=) c.2493C>T (p.Asn831=) c.2160C>T (p.Asn720=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592571T>A | CA368981149 | CFTR | c.2404T>A (p.Leu802Met) c.*2118T>A (n.*2118T>A) c.2221T>A (p.Leu741Met) c.*704T>A (n.*704T>A) c.*2228T>A (n.*2228T>A) c.1978T>A (p.Leu660Met) c.54T>A c.1402-10255T>A (n.1402-10255T>A) c.2314T>A (p.Leu772Met) c.2494T>A (p.Leu832Met) c.2161T>A (p.Leu721Met) | |
7 | g.117592571T>C | CA457448929 | CFTR | c.2404T>C (p.Leu802=) c.*2118T>C (n.*2118T>C) c.2221T>C (p.Leu741=) c.*704T>C (n.*704T>C) c.*2228T>C (n.*2228T>C) c.1978T>C (p.Leu660=) c.54T>C c.1402-10255T>C (n.1402-10255T>C) c.2314T>C (p.Leu772=) c.2494T>C (p.Leu832=) c.2161T>C (p.Leu721=) | |
7 | g.117592571T>G | CA368981151 | CFTR | c.2404T>G (p.Leu802Val) c.*2118T>G (n.*2118T>G) c.2221T>G (p.Leu741Val) c.*704T>G (n.*704T>G) c.*2228T>G (n.*2228T>G) c.1978T>G (p.Leu660Val) c.54T>G c.1402-10255T>G (n.1402-10255T>G) c.2314T>G (p.Leu772Val) c.2494T>G (p.Leu832Val) c.2161T>G (p.Leu721Val) | ClinVar |
7 | g.117592572T>A | CA368981152 | CFTR | c.2405T>A (p.Leu802Ter) c.*2119T>A (n.*2119T>A) c.2222T>A (p.Leu741Ter) c.*705T>A (n.*705T>A) c.*2229T>A (n.*2229T>A) c.1979T>A (p.Leu660Ter) c.55T>A c.1402-10254T>A (n.1402-10254T>A) c.2315T>A (p.Leu772Ter) c.2495T>A (p.Leu832Ter) c.2162T>A (p.Leu721Ter) | |
7 | g.117592572T>C | CA368981153 | CFTR | c.2405T>C (p.Leu802Ser) c.*2119T>C (n.*2119T>C) c.2222T>C (p.Leu741Ser) c.*705T>C (n.*705T>C) c.*2229T>C (n.*2229T>C) c.1979T>C (p.Leu660Ser) c.55T>C c.1402-10254T>C (n.1402-10254T>C) c.2315T>C (p.Leu772Ser) c.2495T>C (p.Leu832Ser) c.2162T>C (p.Leu721Ser) | gnomAD v4 |
7 | g.117592572T>G | CA368981155 | CFTR | c.2405T>G (p.Leu802Trp) c.*2119T>G (n.*2119T>G) c.2222T>G (p.Leu741Trp) c.*705T>G (n.*705T>G) c.*2229T>G (n.*2229T>G) c.1979T>G (p.Leu660Trp) c.55T>G c.1402-10254T>G (n.1402-10254T>G) c.2315T>G (p.Leu772Trp) c.2495T>G (p.Leu832Trp) c.2162T>G (p.Leu721Trp) | |
7 | g.117592573G>A | CA457448932 | CFTR | c.2406G>A (p.Leu802=) c.*2120G>A (n.*2120G>A) c.2223G>A (p.Leu741=) c.*706G>A (n.*706G>A) c.*2230G>A (n.*2230G>A) c.1980G>A (p.Leu660=) c.56G>A c.1402-10253G>A (n.1402-10253G>A) c.2316G>A (p.Leu772=) c.2496G>A (p.Leu832=) c.2163G>A (p.Leu721=) | |
7 | g.117592573G>C | CA368981156 | CFTR | c.2406G>C (p.Leu802Phe) c.*2120G>C (n.*2120G>C) c.2223G>C (p.Leu741Phe) c.*706G>C (n.*706G>C) c.*2230G>C (n.*2230G>C) c.1980G>C (p.Leu660Phe) c.56G>C c.1402-10253G>C (n.1402-10253G>C) c.2316G>C (p.Leu772Phe) c.2496G>C (p.Leu832Phe) c.2163G>C (p.Leu721Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592573G= | CA1737395540 | CFTR | c.2406G= (p.Leu802=) c.*2120G= (n.*2120G=) c.2223G= (p.Leu741=) c.*706G= (n.*706G=) c.*2230G= (n.*2230G=) c.1980G= (p.Leu660=) c.56G= c.1402-10253G= (n.1402-10253G=) c.2316G= (p.Leu772=) c.2496G= (p.Leu832=) c.2163G= (p.Leu721=) | |
7 | g.117592573G>T | CA368981157 | CFTR | c.2406G>T (p.Leu802Phe) c.*2120G>T (n.*2120G>T) c.2223G>T (p.Leu741Phe) c.*706G>T (n.*706G>T) c.*2230G>T (n.*2230G>T) c.1980G>T (p.Leu660Phe) c.56G>T c.1402-10253G>T (n.1402-10253G>T) c.2316G>T (p.Leu772Phe) c.2496G>T (p.Leu832Phe) c.2163G>T (p.Leu721Phe) | gnomAD v4 |
7 | g.117592574A= | CA1737395543 | CFTR | c.2407A= (p.Thr803=) c.*2121A= (n.*2121A=) c.2224A= (p.Thr742=) c.*707A= (n.*707A=) c.*2231A= (n.*2231A=) c.1981A= (p.Thr661=) c.57A= c.1402-10252A= (n.1402-10252A=) c.2317A= (p.Thr773=) c.2497A= (p.Thr833=) c.2164A= (p.Thr722=) | |
7 | g.117592574A>C | CA368981159 | CFTR | c.2407A>C (p.Thr803Pro) c.*2121A>C (n.*2121A>C) c.2224A>C (p.Thr742Pro) c.*707A>C (n.*707A>C) c.*2231A>C (n.*2231A>C) c.1981A>C (p.Thr661Pro) c.57A>C c.1402-10252A>C (n.1402-10252A>C) c.2317A>C (p.Thr773Pro) c.2497A>C (p.Thr833Pro) c.2164A>C (p.Thr722Pro) | |
7 | g.117592574A>G | CA368981163 | CFTR | c.2407A>G (p.Thr803Ala) c.*2121A>G (n.*2121A>G) c.2224A>G (p.Thr742Ala) c.*707A>G (n.*707A>G) c.*2231A>G (n.*2231A>G) c.1981A>G (p.Thr661Ala) c.57A>G c.1402-10252A>G (n.1402-10252A>G) c.2317A>G (p.Thr773Ala) c.2497A>G (p.Thr833Ala) c.2164A>G (p.Thr722Ala) | |
7 | g.117592574A>T | CA368981161 | CFTR | c.2407A>T (p.Thr803Ser) c.*2121A>T (n.*2121A>T) c.2224A>T (p.Thr742Ser) c.*707A>T (n.*707A>T) c.*2231A>T (n.*2231A>T) c.1981A>T (p.Thr661Ser) c.57A>T c.1402-10252A>T (n.1402-10252A>T) c.2317A>T (p.Thr773Ser) c.2497A>T (p.Thr833Ser) c.2164A>T (p.Thr722Ser) | ClinVar dbSNP |
7 | g.117592575C>A | CA368981165 | CFTR | c.2408C>A (p.Thr803Asn) c.*2122C>A (n.*2122C>A) c.2225C>A (p.Thr742Asn) c.*708C>A (n.*708C>A) c.*2232C>A (n.*2232C>A) c.1982C>A (p.Thr661Asn) c.58C>A c.1402-10251C>A (n.1402-10251C>A) c.2318C>A (p.Thr773Asn) c.2498C>A (p.Thr833Asn) c.2165C>A (p.Thr722Asn) | |
7 | g.117592575C>G | CA368981167 | CFTR | c.2408C>G (p.Thr803Ser) c.*2122C>G (n.*2122C>G) c.2225C>G (p.Thr742Ser) c.*708C>G (n.*708C>G) c.*2232C>G (n.*2232C>G) c.1982C>G (p.Thr661Ser) c.58C>G c.1402-10251C>G (n.1402-10251C>G) c.2318C>G (p.Thr773Ser) c.2498C>G (p.Thr833Ser) c.2165C>G (p.Thr722Ser) | |
7 | g.117592575C>T | CA368981168 | CFTR | c.2408C>T (p.Thr803Ile) c.*2122C>T (n.*2122C>T) c.2225C>T (p.Thr742Ile) c.*708C>T (n.*708C>T) c.*2232C>T (n.*2232C>T) c.1982C>T (p.Thr661Ile) c.58C>T c.1402-10251C>T (n.1402-10251C>T) c.2318C>T (p.Thr773Ile) c.2498C>T (p.Thr833Ile) c.2165C>T (p.Thr722Ile) | gnomAD v4 |
7 | g.117592576T>A | CA457448935 | CFTR | c.2409T>A (p.Thr803=) c.*2123T>A (n.*2123T>A) c.2226T>A (p.Thr742=) c.*709T>A (n.*709T>A) c.*2233T>A (n.*2233T>A) c.1983T>A (p.Thr661=) c.59T>A c.1402-10250T>A (n.1402-10250T>A) c.2319T>A (p.Thr773=) c.2499T>A (p.Thr833=) c.2166T>A (p.Thr722=) | |
7 | g.117592576T>C | CA457448936 | CFTR | c.2409T>C (p.Thr803=) c.*2123T>C (n.*2123T>C) c.2226T>C (p.Thr742=) c.*709T>C (n.*709T>C) c.*2233T>C (n.*2233T>C) c.1983T>C (p.Thr661=) c.59T>C c.1402-10250T>C (n.1402-10250T>C) c.2319T>C (p.Thr773=) c.2499T>C (p.Thr833=) c.2166T>C (p.Thr722=) | gnomAD v4 |
7 | g.117592576T>G | CA457448938 | CFTR | c.2409T>G (p.Thr803=) c.*2123T>G (n.*2123T>G) c.2226T>G (p.Thr742=) c.*709T>G (n.*709T>G) c.*2233T>G (n.*2233T>G) c.1983T>G (p.Thr661=) c.59T>G c.1402-10250T>G (n.1402-10250T>G) c.2319T>G (p.Thr773=) c.2499T>G (p.Thr833=) c.2166T>G (p.Thr722=) | gnomAD v4 |
7 | g.117592577G>A | CA368981169 | CFTR | c.2410G>A (p.Glu804Lys) c.*2124G>A (n.*2124G>A) c.2227G>A (p.Glu743Lys) c.*710G>A (n.*710G>A) c.*2234G>A (n.*2234G>A) c.1984G>A (p.Glu662Lys) c.1G>A (p.Glu1Lys) c.60G>A c.1402-10249G>A (n.1402-10249G>A) c.2320G>A (p.Glu774Lys) c.2500G>A (p.Glu834Lys) c.2167G>A (p.Glu723Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592577G>C | CA368981171 | CFTR | c.2410G>C (p.Glu804Gln) c.*2124G>C (n.*2124G>C) c.2227G>C (p.Glu743Gln) c.*710G>C (n.*710G>C) c.*2234G>C (n.*2234G>C) c.1984G>C (p.Glu662Gln) c.1G>C (p.Glu1Gln) c.60G>C c.1402-10249G>C (n.1402-10249G>C) c.2320G>C (p.Glu774Gln) c.2500G>C (p.Glu834Gln) c.2167G>C (p.Glu723Gln) | |
7 | g.117592577G= | CA1737395553 | CFTR | c.2410G= (p.Glu804=) c.*2124G= (n.*2124G=) c.2227G= (p.Glu743=) c.*710G= (n.*710G=) c.*2234G= (n.*2234G=) c.1984G= (p.Glu662=) c.1G= (p.Glu1=) c.60G= c.1402-10249G= (n.1402-10249G=) c.2320G= (p.Glu774=) c.2500G= (p.Glu834=) c.2167G= (p.Glu723=) | |
7 | g.117592577G>T | CA368981172 | CFTR | c.2410G>T (p.Glu804Ter) c.*2124G>T (n.*2124G>T) c.2227G>T (p.Glu743Ter) c.*710G>T (n.*710G>T) c.*2234G>T (n.*2234G>T) c.1984G>T (p.Glu662Ter) c.1G>T (p.Glu1Ter) c.60G>T c.1402-10249G>T (n.1402-10249G>T) c.2320G>T (p.Glu774Ter) c.2500G>T (p.Glu834Ter) c.2167G>T (p.Glu723Ter) | ClinVar dbSNP |
7 | g.117592578A= | CA1737395556 | CFTR | c.2411A= (p.Glu804=) c.*2125A= (n.*2125A=) c.2228A= (p.Glu743=) c.*711A= (n.*711A=) c.*2235A= (n.*2235A=) c.1985A= (p.Glu662=) c.2A= (p.Glu1=) c.61A= c.1402-10248A= (n.1402-10248A=) c.2321A= (p.Glu774=) c.2501A= (p.Glu834=) c.2168A= (p.Glu723=) | |
7 | g.117592578A>C | CA368981173 | CFTR | c.2411A>C (p.Glu804Ala) c.*2125A>C (n.*2125A>C) c.2228A>C (p.Glu743Ala) c.*711A>C (n.*711A>C) c.*2235A>C (n.*2235A>C) c.1985A>C (p.Glu662Ala) c.2A>C (p.Glu1Ala) c.61A>C c.1402-10248A>C (n.1402-10248A>C) c.2321A>C (p.Glu774Ala) c.2501A>C (p.Glu834Ala) c.2168A>C (p.Glu723Ala) | |
7 | g.117592578A>G | CA368981175 | CFTR | c.2411A>G (p.Glu804Gly) c.*2125A>G (n.*2125A>G) c.2228A>G (p.Glu743Gly) c.*711A>G (n.*711A>G) c.*2235A>G (n.*2235A>G) c.1985A>G (p.Glu662Gly) c.2A>G (p.Glu1Gly) c.61A>G c.1402-10248A>G (n.1402-10248A>G) c.2321A>G (p.Glu774Gly) c.2501A>G (p.Glu834Gly) c.2168A>G (p.Glu723Gly) | |
7 | g.117592578A>T | CA326811 | CFTR | c.2411A>T (p.Glu804Val) c.*2125A>T (n.*2125A>T) c.2228A>T (p.Glu743Val) c.*711A>T (n.*711A>T) c.*2235A>T (n.*2235A>T) c.1985A>T (p.Glu662Val) c.2A>T (p.Glu1Val) c.61A>T c.1402-10248A>T (n.1402-10248A>T) c.2321A>T (p.Glu774Val) c.2501A>T (p.Glu834Val) c.2168A>T (p.Glu723Val) | ClinVar dbSNP |
7 | g.117592579A= | CA1737395559 | CFTR | c.2412A= (p.Glu804=) c.*2126A= (n.*2126A=) c.2229A= (p.Glu743=) c.*712A= (n.*712A=) c.*2236A= (n.*2236A=) c.1986A= (p.Glu662=) c.3A= (p.Glu1=) c.62A= c.1402-10247A= (n.1402-10247A=) c.2322A= (p.Glu774=) c.2502A= (p.Glu834=) c.2169A= (p.Glu723=) | |
7 | g.117592579A>C | CA368981178 | CFTR | c.2412A>C (p.Glu804Asp) c.*2126A>C (n.*2126A>C) c.2229A>C (p.Glu743Asp) c.*712A>C (n.*712A>C) c.*2236A>C (n.*2236A>C) c.1986A>C (p.Glu662Asp) c.3A>C (p.Glu1Asp) c.62A>C c.1402-10247A>C (n.1402-10247A>C) c.2322A>C (p.Glu774Asp) c.2502A>C (p.Glu834Asp) c.2169A>C (p.Glu723Asp) | dbSNP |
7 | g.117592579A>G | CA457448940 | CFTR | c.2412A>G (p.Glu804=) c.*2126A>G (n.*2126A>G) c.2229A>G (p.Glu743=) c.*712A>G (n.*712A>G) c.*2236A>G (n.*2236A>G) c.1986A>G (p.Glu662=) c.3A>G (p.Glu1=) c.62A>G c.1402-10247A>G (n.1402-10247A>G) c.2322A>G (p.Glu774=) c.2502A>G (p.Glu834=) c.2169A>G (p.Glu723=) | dbSNP gnomAD v4 |
7 | g.117592579A>T | CA368981179 | CFTR | c.2412A>T (p.Glu804Asp) c.*2126A>T (n.*2126A>T) c.2229A>T (p.Glu743Asp) c.*712A>T (n.*712A>T) c.*2236A>T (n.*2236A>T) c.1986A>T (p.Glu662Asp) c.3A>T (p.Glu1Asp) c.62A>T c.1402-10247A>T (n.1402-10247A>T) c.2322A>T (p.Glu774Asp) c.2502A>T (p.Glu834Asp) c.2169A>T (p.Glu723Asp) | |
7 | g.117592580C>A | CA368981182 | CFTR | c.2413C>A (p.Leu805Met) c.*2127C>A (n.*2127C>A) c.2230C>A (p.Leu744Met) c.*713C>A (n.*713C>A) c.*2237C>A (n.*2237C>A) c.1987C>A (p.Leu663Met) c.4C>A (p.Leu2Met) c.63C>A c.1402-10246C>A (n.1402-10246C>A) c.2323C>A (p.Leu775Met) c.2503C>A (p.Leu835Met) c.2170C>A (p.Leu724Met) | gnomAD v4 |
7 | g.117592580C>G | CA368981181 | CFTR | c.2413C>G (p.Leu805Val) c.*2127C>G (n.*2127C>G) c.2230C>G (p.Leu744Val) c.*713C>G (n.*713C>G) c.*2237C>G (n.*2237C>G) c.1987C>G (p.Leu663Val) c.4C>G (p.Leu2Val) c.63C>G c.1402-10246C>G (n.1402-10246C>G) c.2323C>G (p.Leu775Val) c.2503C>G (p.Leu835Val) c.2170C>G (p.Leu724Val) | |
7 | g.117592580C>T | CA457448942 | CFTR | c.2413C>T (p.Leu805=) c.*2127C>T (n.*2127C>T) c.2230C>T (p.Leu744=) c.*713C>T (n.*713C>T) c.*2237C>T (n.*2237C>T) c.1987C>T (p.Leu663=) c.4C>T (p.Leu2=) c.63C>T c.1402-10246C>T (n.1402-10246C>T) c.2323C>T (p.Leu775=) c.2503C>T (p.Leu835=) c.2170C>T (p.Leu724=) | ClinVar dbSNP gnomAD v4 |
7 | g.117592581T>A | CA368981183 | CFTR | c.2414T>A (p.Leu805Gln) c.*2128T>A (n.*2128T>A) c.2231T>A (p.Leu744Gln) c.*714T>A (n.*714T>A) c.*2238T>A (n.*2238T>A) c.1988T>A (p.Leu663Gln) c.5T>A (p.Leu2Gln) c.64T>A c.1402-10245T>A (n.1402-10245T>A) c.2324T>A (p.Leu775Gln) c.2504T>A (p.Leu835Gln) c.2171T>A (p.Leu724Gln) | |
7 | g.117592581T>C | CA368981184 | CFTR | c.2414T>C (p.Leu805Pro) c.*2128T>C (n.*2128T>C) c.2231T>C (p.Leu744Pro) c.*714T>C (n.*714T>C) c.*2238T>C (n.*2238T>C) c.1988T>C (p.Leu663Pro) c.5T>C (p.Leu2Pro) c.64T>C c.1402-10245T>C (n.1402-10245T>C) c.2324T>C (p.Leu775Pro) c.2504T>C (p.Leu835Pro) c.2171T>C (p.Leu724Pro) | |
7 | g.117592581T>G | CA368981187 | CFTR | c.2414T>G (p.Leu805Arg) c.*2128T>G (n.*2128T>G) c.2231T>G (p.Leu744Arg) c.*714T>G (n.*714T>G) c.*2238T>G (n.*2238T>G) c.1988T>G (p.Leu663Arg) c.5T>G (p.Leu2Arg) c.64T>G c.1402-10245T>G (n.1402-10245T>G) c.2324T>G (p.Leu775Arg) c.2504T>G (p.Leu835Arg) c.2171T>G (p.Leu724Arg) | |
7 | g.117592582G>A | CA457448943 | CFTR | c.2415G>A (p.Leu805=) c.*2129G>A (n.*2129G>A) c.2232G>A (p.Leu744=) c.*715G>A (n.*715G>A) c.*2239G>A (n.*2239G>A) c.1989G>A (p.Leu663=) c.6G>A (p.Leu2=) c.65G>A c.1402-10244G>A (n.1402-10244G>A) c.2325G>A (p.Leu775=) c.2505G>A (p.Leu835=) c.2172G>A (p.Leu724=) | |
7 | g.117592582G>C | CA457448944 | CFTR | c.2415G>C (p.Leu805=) c.*2129G>C (n.*2129G>C) c.2232G>C (p.Leu744=) c.*715G>C (n.*715G>C) c.*2239G>C (n.*2239G>C) c.1989G>C (p.Leu663=) c.6G>C (p.Leu2=) c.65G>C c.1402-10244G>C (n.1402-10244G>C) c.2325G>C (p.Leu775=) c.2505G>C (p.Leu835=) c.2172G>C (p.Leu724=) | ClinVar |
7 | g.117592582G>T | CA457448945 | CFTR | c.2415G>T (p.Leu805=) c.*2129G>T (n.*2129G>T) c.2232G>T (p.Leu744=) c.*715G>T (n.*715G>T) c.*2239G>T (n.*2239G>T) c.1989G>T (p.Leu663=) c.6G>T (p.Leu2=) c.65G>T c.1402-10244G>T (n.1402-10244G>T) c.2325G>T (p.Leu775=) c.2505G>T (p.Leu835=) c.2172G>T (p.Leu724=) | |
7 | g.117592583G>A | CA368981189 | CFTR | c.2416G>A (p.Asp806Asn) c.*2130G>A (n.*2130G>A) c.2233G>A (p.Asp745Asn) c.*716G>A (n.*716G>A) c.*2240G>A (n.*2240G>A) c.1990G>A (p.Asp664Asn) c.7G>A (p.Asp3Asn) c.66G>A c.1402-10243G>A (n.1402-10243G>A) c.2326G>A (p.Asp776Asn) c.2506G>A (p.Asp836Asn) c.2173G>A (p.Asp725Asn) | COSMIC |
7 | g.117592583G>C | CA368981191 | CFTR | c.2416G>C (p.Asp806His) c.*2130G>C (n.*2130G>C) c.2233G>C (p.Asp745His) c.*716G>C (n.*716G>C) c.*2240G>C (n.*2240G>C) c.1990G>C (p.Asp664His) c.7G>C (p.Asp3His) c.66G>C c.1402-10243G>C (n.1402-10243G>C) c.2326G>C (p.Asp776His) c.2506G>C (p.Asp836His) c.2173G>C (p.Asp725His) | |
7 | g.117592583G= | CA1737395563 | CFTR | c.2416G= (p.Asp806=) c.*2130G= (n.*2130G=) c.2233G= (p.Asp745=) c.*716G= (n.*716G=) c.*2240G= (n.*2240G=) c.1990G= (p.Asp664=) c.7G= (p.Asp3=) c.66G= c.1402-10243G= (n.1402-10243G=) c.2326G= (p.Asp776=) c.2506G= (p.Asp836=) c.2173G= (p.Asp725=) | |
7 | g.117592583G>T | CA368981193 | CFTR | c.2416G>T (p.Asp806Tyr) c.*2130G>T (n.*2130G>T) c.2233G>T (p.Asp745Tyr) c.*716G>T (n.*716G>T) c.*2240G>T (n.*2240G>T) c.1990G>T (p.Asp664Tyr) c.7G>T (p.Asp3Tyr) c.66G>T c.1402-10243G>T (n.1402-10243G>T) c.2326G>T (p.Asp776Tyr) c.2506G>T (p.Asp836Tyr) c.2173G>T (p.Asp725Tyr) | |
7 | g.117592584A= | CA1737395569 | CFTR | c.2417A= (p.Asp806=) c.*2131A= (n.*2131A=) c.2234A= (p.Asp745=) c.*717A= (n.*717A=) c.*2241A= (n.*2241A=) c.1991A= (p.Asp664=) c.8A= (p.Asp3=) c.67A= c.1402-10242A= (n.1402-10242A=) c.2327A= (p.Asp776=) c.2507A= (p.Asp836=) c.2174A= (p.Asp725=) | |
7 | g.117592584A>C | CA368981196 | CFTR | c.2417A>C (p.Asp806Ala) c.*2131A>C (n.*2131A>C) c.2234A>C (p.Asp745Ala) c.*717A>C (n.*717A>C) c.*2241A>C (n.*2241A>C) c.1991A>C (p.Asp664Ala) c.8A>C (p.Asp3Ala) c.67A>C c.1402-10242A>C (n.1402-10242A>C) c.2327A>C (p.Asp776Ala) c.2507A>C (p.Asp836Ala) c.2174A>C (p.Asp725Ala) | |
7 | g.117592584A>G | CA326813 | CFTR | c.2417A>G (p.Asp806Gly) c.*2131A>G (n.*2131A>G) c.2234A>G (p.Asp745Gly) c.*717A>G (n.*717A>G) c.*2241A>G (n.*2241A>G) c.1991A>G (p.Asp664Gly) c.8A>G (p.Asp3Gly) c.67A>G c.1402-10242A>G (n.1402-10242A>G) c.2327A>G (p.Asp776Gly) c.2507A>G (p.Asp836Gly) c.2174A>G (p.Asp725Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592584A>T | CA368981195 | CFTR | c.2417A>T (p.Asp806Val) c.*2131A>T (n.*2131A>T) c.2234A>T (p.Asp745Val) c.*717A>T (n.*717A>T) c.*2241A>T (n.*2241A>T) c.1991A>T (p.Asp664Val) c.8A>T (p.Asp3Val) c.67A>T c.1402-10242A>T (n.1402-10242A>T) c.2327A>T (p.Asp776Val) c.2507A>T (p.Asp836Val) c.2174A>T (p.Asp725Val) | |
7 | g.117592590_117592591dup | CA254109 | CFTR | c.2423_2424dup (p.Ser809IlefsTer13) c.*2137_*2138dup (n.*2137_*2138dup) c.2240_2241dup (p.Ser748IlefsTer13) c.*723_*724dup (n.*723_*724dup) c.*2247_*2248dup (n.*2247_*2248dup) c.1997_1998dup (p.Ser667IlefsTer13) c.14_15dup (p.Ser6IlefsTer13) c.73_74dup c.1402-10236_1402-10235dup (n.1402-10236_1402-10235dup) c.2333_2334dup (p.Ser779IlefsTer13) c.2513_2514dup (p.Ser839IlefsTer13) c.2180_2181dup (p.Ser728IlefsTer13) | ClinVar dbSNP |
7 | g.117592585T>A | CA368981198 | CFTR | c.2418T>A (p.Asp806Glu) c.*2132T>A (n.*2132T>A) c.2235T>A (p.Asp745Glu) c.*718T>A (n.*718T>A) c.*2242T>A (n.*2242T>A) c.1992T>A (p.Asp664Glu) c.9T>A (p.Asp3Glu) c.68T>A c.1402-10241T>A (n.1402-10241T>A) c.2328T>A (p.Asp776Glu) c.2508T>A (p.Asp836Glu) c.2175T>A (p.Asp725Glu) | ClinVar dbSNP |
7 | g.117592585T>C | CA457448950 | CFTR | c.2418T>C (p.Asp806=) c.*2132T>C (n.*2132T>C) c.2235T>C (p.Asp745=) c.*718T>C (n.*718T>C) c.*2242T>C (n.*2242T>C) c.1992T>C (p.Asp664=) c.9T>C (p.Asp3=) c.68T>C c.1402-10241T>C (n.1402-10241T>C) c.2328T>C (p.Asp776=) c.2508T>C (p.Asp836=) c.2175T>C (p.Asp725=) | |
7 | g.117592585T>G | CA368981200 | CFTR | c.2418T>G (p.Asp806Glu) c.*2132T>G (n.*2132T>G) c.2235T>G (p.Asp745Glu) c.*718T>G (n.*718T>G) c.*2242T>G (n.*2242T>G) c.1992T>G (p.Asp664Glu) c.9T>G (p.Asp3Glu) c.68T>G c.1402-10241T>G (n.1402-10241T>G) c.2328T>G (p.Asp776Glu) c.2508T>G (p.Asp836Glu) c.2175T>G (p.Asp725Glu) | |
7 | g.117592585T= | CA1737395573 | CFTR | c.2418T= (p.Asp806=) c.*2132T= (n.*2132T=) c.2235T= (p.Asp745=) c.*718T= (n.*718T=) c.*2242T= (n.*2242T=) c.1992T= (p.Asp664=) c.9T= (p.Asp3=) c.68T= c.1402-10241T= (n.1402-10241T=) c.2328T= (p.Asp776=) c.2508T= (p.Asp836=) c.2175T= (p.Asp725=) | |
7 | g.117592586A= | CA1737395576 | CFTR | c.2419A= (p.Ile807=) c.*2133A= (n.*2133A=) c.2236A= (p.Ile746=) c.*719A= (n.*719A=) c.*2243A= (n.*2243A=) c.1993A= (p.Ile665=) c.10A= (p.Ile4=) c.69A= c.1402-10240A= (n.1402-10240A=) c.2329A= (p.Ile777=) c.2509A= (p.Ile837=) c.2176A= (p.Ile726=) | |
7 | g.117592586A>C | CA368981203 | CFTR | c.2419A>C (p.Ile807Leu) c.*2133A>C (n.*2133A>C) c.2236A>C (p.Ile746Leu) c.*719A>C (n.*719A>C) c.*2243A>C (n.*2243A>C) c.1993A>C (p.Ile665Leu) c.10A>C (p.Ile4Leu) c.69A>C c.1402-10240A>C (n.1402-10240A>C) c.2329A>C (p.Ile777Leu) c.2509A>C (p.Ile837Leu) c.2176A>C (p.Ile726Leu) | |
7 | g.117592586A>G | CA368981205 | CFTR | c.2419A>G (p.Ile807Val) c.*2133A>G (n.*2133A>G) c.2236A>G (p.Ile746Val) c.*719A>G (n.*719A>G) c.*2243A>G (n.*2243A>G) c.1993A>G (p.Ile665Val) c.10A>G (p.Ile4Val) c.69A>G c.1402-10240A>G (n.1402-10240A>G) c.2329A>G (p.Ile777Val) c.2509A>G (p.Ile837Val) c.2176A>G (p.Ile726Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592586A>T | CA368981206 | CFTR | c.2419A>T (p.Ile807Leu) c.*2133A>T (n.*2133A>T) c.2236A>T (p.Ile746Leu) c.*719A>T (n.*719A>T) c.*2243A>T (n.*2243A>T) c.1993A>T (p.Ile665Leu) c.10A>T (p.Ile4Leu) c.69A>T c.1402-10240A>T (n.1402-10240A>T) c.2329A>T (p.Ile777Leu) c.2509A>T (p.Ile837Leu) c.2176A>T (p.Ile726Leu) | |
7 | g.117592587T>A | CA368981210 | CFTR | c.2420T>A (p.Ile807Lys) c.*2134T>A (n.*2134T>A) c.2237T>A (p.Ile746Lys) c.*720T>A (n.*720T>A) c.*2244T>A (n.*2244T>A) c.1994T>A (p.Ile665Lys) c.11T>A (p.Ile4Lys) c.70T>A c.1402-10239T>A (n.1402-10239T>A) c.2330T>A (p.Ile777Lys) c.2510T>A (p.Ile837Lys) c.2177T>A (p.Ile726Lys) | |
7 | g.117592587T>C | CA368981212 | CFTR | c.2420T>C (p.Ile807Thr) c.*2134T>C (n.*2134T>C) c.2237T>C (p.Ile746Thr) c.*720T>C (n.*720T>C) c.*2244T>C (n.*2244T>C) c.1994T>C (p.Ile665Thr) c.11T>C (p.Ile4Thr) c.70T>C c.1402-10239T>C (n.1402-10239T>C) c.2330T>C (p.Ile777Thr) c.2510T>C (p.Ile837Thr) c.2177T>C (p.Ile726Thr) | ClinVar dbSNP |
7 | g.117592587T>G | CA368981208 | CFTR | c.2420T>G (p.Ile807Arg) c.*2134T>G (n.*2134T>G) c.2237T>G (p.Ile746Arg) c.*720T>G (n.*720T>G) c.*2244T>G (n.*2244T>G) c.1994T>G (p.Ile665Arg) c.11T>G (p.Ile4Arg) c.70T>G c.1402-10239T>G (n.1402-10239T>G) c.2330T>G (p.Ile777Arg) c.2510T>G (p.Ile837Arg) c.2177T>G (p.Ile726Arg) | |
7 | g.117592587T= | CA1737395579 | CFTR | c.2420T= (p.Ile807=) c.*2134T= (n.*2134T=) c.2237T= (p.Ile746=) c.*720T= (n.*720T=) c.*2244T= (n.*2244T=) c.1994T= (p.Ile665=) c.11T= (p.Ile4=) c.70T= c.1402-10239T= (n.1402-10239T=) c.2330T= (p.Ile777=) c.2510T= (p.Ile837=) c.2177T= (p.Ile726=) | |
7 | g.117592588A= | CA1737395586 | CFTR | c.2421A= (p.Ile807=) c.*2135A= (n.*2135A=) c.2238A= (p.Ile746=) c.*721A= (n.*721A=) c.*2245A= (n.*2245A=) c.1995A= (p.Ile665=) c.12A= (p.Ile4=) c.71A= c.1402-10238A= (n.1402-10238A=) c.2331A= (p.Ile777=) c.2511A= (p.Ile837=) c.2178A= (p.Ile726=) | |
7 | g.117592588A>C | CA457448952 | CFTR | c.2421A>C (p.Ile807=) c.*2135A>C (n.*2135A>C) c.2238A>C (p.Ile746=) c.*721A>C (n.*721A>C) c.*2245A>C (n.*2245A>C) c.1995A>C (p.Ile665=) c.12A>C (p.Ile4=) c.71A>C c.1402-10238A>C (n.1402-10238A>C) c.2331A>C (p.Ile777=) c.2511A>C (p.Ile837=) c.2178A>C (p.Ile726=) | ClinVar |
7 | g.117592588A>G | CA260217 | CFTR | c.2421A>G (p.Ile807Met) c.*2135A>G (n.*2135A>G) c.2238A>G (p.Ile746Met) c.*721A>G (n.*721A>G) c.*2245A>G (n.*2245A>G) c.1995A>G (p.Ile665Met) c.12A>G (p.Ile4Met) c.71A>G c.1402-10238A>G (n.1402-10238A>G) c.2331A>G (p.Ile777Met) c.2511A>G (p.Ile837Met) c.2178A>G (p.Ile726Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592588A>T | CA457448953 | CFTR | c.2421A>T (p.Ile807=) c.*2135A>T (n.*2135A>T) c.2238A>T (p.Ile746=) c.*721A>T (n.*721A>T) c.*2245A>T (n.*2245A>T) c.1995A>T (p.Ile665=) c.12A>T (p.Ile4=) c.71A>T c.1402-10238A>T (n.1402-10238A>T) c.2331A>T (p.Ile777=) c.2511A>T (p.Ile837=) c.2178A>T (p.Ile726=) | |
7 | g.117592589T>A | CA368981220 | CFTR | c.2422T>A (p.Tyr808Asn) c.*2136T>A (n.*2136T>A) c.2239T>A (p.Tyr747Asn) c.*722T>A (n.*722T>A) c.*2246T>A (n.*2246T>A) c.1996T>A (p.Tyr666Asn) c.13T>A (p.Tyr5Asn) c.72T>A c.1402-10237T>A (n.1402-10237T>A) c.2332T>A (p.Tyr778Asn) c.2512T>A (p.Tyr838Asn) c.2179T>A (p.Tyr727Asn) | |
7 | g.117592589T>C | CA368981217 | CFTR | c.2422T>C (p.Tyr808His) c.*2136T>C (n.*2136T>C) c.2239T>C (p.Tyr747His) c.*722T>C (n.*722T>C) c.*2246T>C (n.*2246T>C) c.1996T>C (p.Tyr666His) c.13T>C (p.Tyr5His) c.72T>C c.1402-10237T>C (n.1402-10237T>C) c.2332T>C (p.Tyr778His) c.2512T>C (p.Tyr838His) c.2179T>C (p.Tyr727His) | |
7 | g.117592589T>G | CA368981219 | CFTR | c.2422T>G (p.Tyr808Asp) c.*2136T>G (n.*2136T>G) c.2239T>G (p.Tyr747Asp) c.*722T>G (n.*722T>G) c.*2246T>G (n.*2246T>G) c.1996T>G (p.Tyr666Asp) c.13T>G (p.Tyr5Asp) c.72T>G c.1402-10237T>G (n.1402-10237T>G) c.2332T>G (p.Tyr778Asp) c.2512T>G (p.Tyr838Asp) c.2179T>G (p.Tyr727Asp) | |
7 | g.117592590A= | CA1737395592 | CFTR | c.2423A= (p.Tyr808=) c.*2137A= (n.*2137A=) c.2240A= (p.Tyr747=) c.*723A= (n.*723A=) c.*2247A= (n.*2247A=) c.1997A= (p.Tyr666=) c.14A= (p.Tyr5=) c.73A= c.1402-10236A= (n.1402-10236A=) c.2333A= (p.Tyr778=) c.2513A= (p.Tyr838=) c.2180A= (p.Tyr727=) | |
7 | g.117592590A>C | CA368981223 | CFTR | c.2423A>C (p.Tyr808Ser) c.*2137A>C (n.*2137A>C) c.2240A>C (p.Tyr747Ser) c.*723A>C (n.*723A>C) c.*2247A>C (n.*2247A>C) c.1997A>C (p.Tyr666Ser) c.14A>C (p.Tyr5Ser) c.73A>C c.1402-10236A>C (n.1402-10236A>C) c.2333A>C (p.Tyr778Ser) c.2513A>C (p.Tyr838Ser) c.2180A>C (p.Tyr727Ser) | |
7 | g.117592590A>G | CA368981225 | CFTR | c.2423A>G (p.Tyr808Cys) c.*2137A>G (n.*2137A>G) c.2240A>G (p.Tyr747Cys) c.*723A>G (n.*723A>G) c.*2247A>G (n.*2247A>G) c.1997A>G (p.Tyr666Cys) c.14A>G (p.Tyr5Cys) c.73A>G c.1402-10236A>G (n.1402-10236A>G) c.2333A>G (p.Tyr778Cys) c.2513A>G (p.Tyr838Cys) c.2180A>G (p.Tyr727Cys) | |
7 | g.117592590A>T | CA368981227 | CFTR | c.2423A>T (p.Tyr808Phe) c.*2137A>T (n.*2137A>T) c.2240A>T (p.Tyr747Phe) c.*723A>T (n.*723A>T) c.*2247A>T (n.*2247A>T) c.1997A>T (p.Tyr666Phe) c.14A>T (p.Tyr5Phe) c.73A>T c.1402-10236A>T (n.1402-10236A>T) c.2333A>T (p.Tyr778Phe) c.2513A>T (p.Tyr838Phe) c.2180A>T (p.Tyr727Phe) | ClinVar dbSNP |
7 | g.117592591T>A | CA368981228 | CFTR | c.2424T>A (p.Tyr808Ter) c.*2138T>A (n.*2138T>A) c.2241T>A (p.Tyr747Ter) c.*724T>A (n.*724T>A) c.*2248T>A (n.*2248T>A) c.1998T>A (p.Tyr666Ter) c.15T>A (p.Tyr5Ter) c.74T>A c.1402-10235T>A (n.1402-10235T>A) c.2334T>A (p.Tyr778Ter) c.2514T>A (p.Tyr838Ter) c.2181T>A (p.Tyr727Ter) | |
7 | g.117592591T>C | CA4451181 | CFTR | c.2424T>C (p.Tyr808=) c.*2138T>C (n.*2138T>C) c.2241T>C (p.Tyr747=) c.*724T>C (n.*724T>C) c.*2248T>C (n.*2248T>C) c.1998T>C (p.Tyr666=) c.15T>C (p.Tyr5=) c.74T>C c.1402-10235T>C (n.1402-10235T>C) c.2334T>C (p.Tyr778=) c.2514T>C (p.Tyr838=) c.2181T>C (p.Tyr727=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592591T>G | CA368981230 | CFTR | c.2424T>G (p.Tyr808Ter) c.*2138T>G (n.*2138T>G) c.2241T>G (p.Tyr747Ter) c.*724T>G (n.*724T>G) c.*2248T>G (n.*2248T>G) c.1998T>G (p.Tyr666Ter) c.15T>G (p.Tyr5Ter) c.74T>G c.1402-10235T>G (n.1402-10235T>G) c.2334T>G (p.Tyr778Ter) c.2514T>G (p.Tyr838Ter) c.2181T>G (p.Tyr727Ter) | |
7 | g.117592591T= | CA1737395597 | CFTR | c.2424T= (p.Tyr808=) c.*2138T= (n.*2138T=) c.2241T= (p.Tyr747=) c.*724T= (n.*724T=) c.*2248T= (n.*2248T=) c.1998T= (p.Tyr666=) c.15T= (p.Tyr5=) c.74T= c.1402-10235T= (n.1402-10235T=) c.2334T= (p.Tyr778=) c.2514T= (p.Tyr838=) c.2181T= (p.Tyr727=) | |
7 | g.117592592T>A | CA368981233 | CFTR | c.2425T>A (p.Ser809Thr) c.*2139T>A (n.*2139T>A) c.2242T>A (p.Ser748Thr) c.*725T>A (n.*725T>A) c.*2249T>A (n.*2249T>A) c.1999T>A (p.Ser667Thr) c.16T>A (p.Ser6Thr) c.75T>A c.1402-10234T>A (n.1402-10234T>A) c.2335T>A (p.Ser779Thr) c.2515T>A (p.Ser839Thr) c.2182T>A (p.Ser728Thr) | |
7 | g.117592592T>C | CA368981235 | CFTR | c.2425T>C (p.Ser809Pro) c.*2139T>C (n.*2139T>C) c.2242T>C (p.Ser748Pro) c.*725T>C (n.*725T>C) c.*2249T>C (n.*2249T>C) c.1999T>C (p.Ser667Pro) c.16T>C (p.Ser6Pro) c.75T>C c.1402-10234T>C (n.1402-10234T>C) c.2335T>C (p.Ser779Pro) c.2515T>C (p.Ser839Pro) c.2182T>C (p.Ser728Pro) | |
7 | g.117592592T>G | CA368981236 | CFTR | c.2425T>G (p.Ser809Ala) c.*2139T>G (n.*2139T>G) c.2242T>G (p.Ser748Ala) c.*725T>G (n.*725T>G) c.*2249T>G (n.*2249T>G) c.1999T>G (p.Ser667Ala) c.16T>G (p.Ser6Ala) c.75T>G c.1402-10234T>G (n.1402-10234T>G) c.2335T>G (p.Ser779Ala) c.2515T>G (p.Ser839Ala) c.2182T>G (p.Ser728Ala) | |
7 | g.117592593C>A | CA368981237 | CFTR | c.2426C>A (p.Ser809Ter) c.*2140C>A (n.*2140C>A) c.2243C>A (p.Ser748Ter) c.*726C>A (n.*726C>A) c.*2250C>A (n.*2250C>A) c.2000C>A (p.Ser667Ter) c.17C>A (p.Ser6Ter) c.76C>A c.1402-10233C>A (n.1402-10233C>A) c.2336C>A (p.Ser779Ter) c.2516C>A (p.Ser839Ter) c.2183C>A (p.Ser728Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.117592593C= | CA1737395603 | CFTR | c.2426C= (p.Ser809=) c.*2140C= (n.*2140C=) c.2243C= (p.Ser748=) c.*726C= (n.*726C=) c.*2250C= (n.*2250C=) c.2000C= (p.Ser667=) c.17C= (p.Ser6=) c.76C= c.1402-10233C= (n.1402-10233C=) c.2336C= (p.Ser779=) c.2516C= (p.Ser839=) c.2183C= (p.Ser728=) | |
7 | g.117592593C>G | CA368981241 | CFTR | c.2426C>G (p.Ser809Ter) c.*2140C>G (n.*2140C>G) c.2243C>G (p.Ser748Ter) c.*726C>G (n.*726C>G) c.*2250C>G (n.*2250C>G) c.2000C>G (p.Ser667Ter) c.17C>G (p.Ser6Ter) c.76C>G c.1402-10233C>G (n.1402-10233C>G) c.2336C>G (p.Ser779Ter) c.2516C>G (p.Ser839Ter) c.2183C>G (p.Ser728Ter) | COSMIC |
7 | g.117592593C>T | CA368981239 | CFTR | c.2426C>T (p.Ser809Leu) c.*2140C>T (n.*2140C>T) c.2243C>T (p.Ser748Leu) c.*726C>T (n.*726C>T) c.*2250C>T (n.*2250C>T) c.2000C>T (p.Ser667Leu) c.17C>T (p.Ser6Leu) c.76C>T c.1402-10233C>T (n.1402-10233C>T) c.2336C>T (p.Ser779Leu) c.2516C>T (p.Ser839Leu) c.2183C>T (p.Ser728Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592593_117592596del | CA913111880 | CFTR | c.2426_2429del (p.Ser809Ter) c.*2140_*2143del (n.*2140_*2143del) c.2243_2246del (p.Ser748Ter) c.*726_*729del (n.*726_*729del) c.*2250_*2253del (n.*2250_*2253del) c.2000_2003del (p.Ser667Ter) c.17_20del (p.Ser6Ter) c.76_79del c.1402-10233_1402-10230del (n.1402-10233_1402-10230del) c.2336_2339del (p.Ser779Ter) c.2516_2519del (p.Ser839Ter) c.2183_2186del (p.Ser728Ter) | |
7 | g.117592593_117592596delinsCAAG | CA1737395606 | CFTR | c.2426_2429delinsCAAG (p.Ser809=) c.*2140_*2143delinsCAAG (n.*2140_*2143delinsCAAG) c.2243_2246delinsCAAG (p.Ser748=) c.*726_*729delinsCAAG (n.*726_*729delinsCAAG) c.*2250_*2253delinsCAAG (n.*2250_*2253delinsCAAG) c.2000_2003delinsCAAG (p.Ser667=) c.17_20delinsCAAG (p.Ser6=) c.76_79delinsCAAG c.1402-10233_1402-10230delinsCAAG (n.1402-10233_1402-10230delinsCAAG) c.2336_2339delinsCAAG (p.Ser779=) c.2516_2519delinsCAAG (p.Ser839=) c.2183_2186delinsCAAG (p.Ser728=) | |
7 | g.117592594A>C | CA457448957 | CFTR | c.2427A>C (p.Ser809=) c.*2141A>C (n.*2141A>C) c.2244A>C (p.Ser748=) c.*727A>C (n.*727A>C) c.*2251A>C (n.*2251A>C) c.2001A>C (p.Ser667=) c.18A>C (p.Ser6=) c.77A>C c.1402-10232A>C (n.1402-10232A>C) c.2337A>C (p.Ser779=) c.2517A>C (p.Ser839=) c.2184A>C (p.Ser728=) | |
7 | g.117592594A>G | CA457448958 | CFTR | c.2427A>G (p.Ser809=) c.*2141A>G (n.*2141A>G) c.2244A>G (p.Ser748=) c.*727A>G (n.*727A>G) c.*2251A>G (n.*2251A>G) c.2001A>G (p.Ser667=) c.18A>G (p.Ser6=) c.77A>G c.1402-10232A>G (n.1402-10232A>G) c.2337A>G (p.Ser779=) c.2517A>G (p.Ser839=) c.2184A>G (p.Ser728=) | gnomAD v4 |
7 | g.117592594A>T | CA457448959 | CFTR | c.2427A>T (p.Ser809=) c.*2141A>T (n.*2141A>T) c.2244A>T (p.Ser748=) c.*727A>T (n.*727A>T) c.*2251A>T (n.*2251A>T) c.2001A>T (p.Ser667=) c.18A>T (p.Ser6=) c.77A>T c.1402-10232A>T (n.1402-10232A>T) c.2337A>T (p.Ser779=) c.2517A>T (p.Ser839=) c.2184A>T (p.Ser728=) | ClinVar |
7 | g.117592597_117592599del | CA658822500 | CFTR | c.2430_2432del (p.Arg811del) c.*2144_*2146del (n.*2144_*2146del) c.2247_2249del (p.Arg750del) c.*730_*732del (n.*730_*732del) c.*2254_*2256del (n.*2254_*2256del) c.2004_2006del (p.Arg669del) c.21_23del (p.Arg8del) c.80_82del c.1402-10229_1402-10227del (n.1402-10229_1402-10227del) c.2340_2342del (p.Arg781del) c.2520_2522del (p.Arg841del) c.2187_2189del (p.Arg730del) | ClinVar dbSNP |
7 | g.117592595A= | CA1737395614 | CFTR | c.2428A= (p.Arg810=) c.*2142A= (n.*2142A=) c.2245A= (p.Arg749=) c.*728A= (n.*728A=) c.*2252A= (n.*2252A=) c.2002A= (p.Arg668=) c.19A= (p.Arg7=) c.78A= c.1402-10231A= (n.1402-10231A=) c.2338A= (p.Arg780=) c.2518A= (p.Arg840=) c.2185A= (p.Arg729=) | |
7 | g.117592595A>C | CA457448960 | CFTR | c.2428A>C (p.Arg810=) c.*2142A>C (n.*2142A>C) c.2245A>C (p.Arg749=) c.*728A>C (n.*728A>C) c.*2252A>C (n.*2252A>C) c.2002A>C (p.Arg668=) c.19A>C (p.Arg7=) c.78A>C c.1402-10231A>C (n.1402-10231A>C) c.2338A>C (p.Arg780=) c.2518A>C (p.Arg840=) c.2185A>C (p.Arg729=) | |
7 | g.117592595A>G | CA326815 | CFTR | c.2428A>G (p.Arg810Gly) c.*2142A>G (n.*2142A>G) c.2245A>G (p.Arg749Gly) c.*728A>G (n.*728A>G) c.*2252A>G (n.*2252A>G) c.2002A>G (p.Arg668Gly) c.19A>G (p.Arg7Gly) c.78A>G c.1402-10231A>G (n.1402-10231A>G) c.2338A>G (p.Arg780Gly) c.2518A>G (p.Arg840Gly) c.2185A>G (p.Arg729Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592595A>T | CA368981244 | CFTR | c.2428A>T (p.Arg810Ter) c.*2142A>T (n.*2142A>T) c.2245A>T (p.Arg749Ter) c.*728A>T (n.*728A>T) c.*2252A>T (n.*2252A>T) c.2002A>T (p.Arg668Ter) c.19A>T (p.Arg7Ter) c.78A>T c.1402-10231A>T (n.1402-10231A>T) c.2338A>T (p.Arg780Ter) c.2518A>T (p.Arg840Ter) c.2185A>T (p.Arg729Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.117592595_117592596delinsAG | CA1737395617 | CFTR | c.2428_2429delinsAG (p.Arg810=) c.*2142_*2143delinsAG (n.*2142_*2143delinsAG) c.2245_2246delinsAG (p.Arg749=) c.*728_*729delinsAG (n.*728_*729delinsAG) c.*2252_*2253delinsAG (n.*2252_*2253delinsAG) c.2002_2003delinsAG (p.Arg668=) c.19_20delinsAG (p.Arg7=) c.78_79delinsAG c.1402-10231_1402-10230delinsAG (n.1402-10231_1402-10230delinsAG) c.2338_2339delinsAG (p.Arg780=) c.2518_2519delinsAG (p.Arg840=) c.2185_2186delinsAG (p.Arg729=) | |
7 | g.117592595_117592596delinsGA | CA645541507 | CFTR | c.2428_2429delinsGA (p.Arg810Glu) c.*2142_*2143delinsGA (n.*2142_*2143delinsGA) c.2245_2246delinsGA (p.Arg749Glu) c.*728_*729delinsGA (n.*728_*729delinsGA) c.*2252_*2253delinsGA (n.*2252_*2253delinsGA) c.2002_2003delinsGA (p.Arg668Glu) c.19_20delinsGA (p.Arg7Glu) c.78_79delinsGA c.1402-10231_1402-10230delinsGA (n.1402-10231_1402-10230delinsGA) c.2338_2339delinsGA (p.Arg780Glu) c.2518_2519delinsGA (p.Arg840Glu) c.2185_2186delinsGA (p.Arg729Glu) | COSMIC |
7 | g.117592596del | CA16041130 | CFTR | c.2429del (p.Arg810LysfsTer11) c.*2143del (n.*2143del) c.2246del (p.Arg749LysfsTer11) c.*729del (n.*729del) c.*2253del (n.*2253del) c.2003del (p.Arg668LysfsTer11) c.20del (p.Arg7LysfsTer11) c.79del c.1402-10230del (n.1402-10230del) c.2339del (p.Arg780LysfsTer11) c.2519del (p.Arg840LysfsTer11) c.2186del (p.Arg729LysfsTer11) | ClinVar dbSNP |
7 | g.117592596G>A | CA368981245 | CFTR | c.2429G>A (p.Arg810Lys) c.*2143G>A (n.*2143G>A) c.2246G>A (p.Arg749Lys) c.*729G>A (n.*729G>A) c.*2253G>A (n.*2253G>A) c.2003G>A (p.Arg668Lys) c.20G>A (p.Arg7Lys) c.79G>A c.1402-10230G>A (n.1402-10230G>A) c.2339G>A (p.Arg780Lys) c.2519G>A (p.Arg840Lys) c.2186G>A (p.Arg729Lys) | gnomAD v4 |
7 | g.117592596G>C | CA368981247 | CFTR | c.2429G>C (p.Arg810Thr) c.*2143G>C (n.*2143G>C) c.2246G>C (p.Arg749Thr) c.*729G>C (n.*729G>C) c.*2253G>C (n.*2253G>C) c.2003G>C (p.Arg668Thr) c.20G>C (p.Arg7Thr) c.79G>C c.1402-10230G>C (n.1402-10230G>C) c.2339G>C (p.Arg780Thr) c.2519G>C (p.Arg840Thr) c.2186G>C (p.Arg729Thr) | |
7 | g.117592596G>T | CA368981248 | CFTR | c.2429G>T (p.Arg810Ile) c.*2143G>T (n.*2143G>T) c.2246G>T (p.Arg749Ile) c.*729G>T (n.*729G>T) c.*2253G>T (n.*2253G>T) c.2003G>T (p.Arg668Ile) c.20G>T (p.Arg7Ile) c.79G>T c.1402-10230G>T (n.1402-10230G>T) c.2339G>T (p.Arg780Ile) c.2519G>T (p.Arg840Ile) c.2186G>T (p.Arg729Ile) | |
7 | g.117592597A>C | CA368981250 | CFTR | c.2430A>C (p.Arg810Ser) c.*2144A>C (n.*2144A>C) c.2247A>C (p.Arg749Ser) c.*730A>C (n.*730A>C) c.*2254A>C (n.*2254A>C) c.2004A>C (p.Arg668Ser) c.21A>C (p.Arg7Ser) c.80A>C c.1402-10229A>C (n.1402-10229A>C) c.2340A>C (p.Arg780Ser) c.2520A>C (p.Arg840Ser) c.2187A>C (p.Arg729Ser) | |
7 | g.117592597A>G | CA457448961 | CFTR | c.2430A>G (p.Arg810=) c.*2144A>G (n.*2144A>G) c.2247A>G (p.Arg749=) c.*730A>G (n.*730A>G) c.*2254A>G (n.*2254A>G) c.2004A>G (p.Arg668=) c.21A>G (p.Arg7=) c.80A>G c.1402-10229A>G (n.1402-10229A>G) c.2340A>G (p.Arg780=) c.2520A>G (p.Arg840=) c.2187A>G (p.Arg729=) | |
7 | g.117592597A>T | CA368981251 | CFTR | c.2430A>T (p.Arg810Ser) c.*2144A>T (n.*2144A>T) c.2247A>T (p.Arg749Ser) c.*730A>T (n.*730A>T) c.*2254A>T (n.*2254A>T) c.2004A>T (p.Arg668Ser) c.21A>T (p.Arg7Ser) c.80A>T c.1402-10229A>T (n.1402-10229A>T) c.2340A>T (p.Arg780Ser) c.2520A>T (p.Arg840Ser) c.2187A>T (p.Arg729Ser) | ClinVar gnomAD v4 |
7 | g.117592598A>C | CA457448962 | CFTR | c.2431A>C (p.Arg811=) c.*2145A>C (n.*2145A>C) c.2248A>C (p.Arg750=) c.*731A>C (n.*731A>C) c.*2255A>C (n.*2255A>C) c.2005A>C (p.Arg669=) c.22A>C (p.Arg8=) c.81A>C c.1402-10228A>C (n.1402-10228A>C) c.2341A>C (p.Arg781=) c.2521A>C (p.Arg841=) c.2188A>C (p.Arg730=) | |
7 | g.117592598A>G | CA368981253 | CFTR | c.2431A>G (p.Arg811Gly) c.*2145A>G (n.*2145A>G) c.2248A>G (p.Arg750Gly) c.*731A>G (n.*731A>G) c.*2255A>G (n.*2255A>G) c.2005A>G (p.Arg669Gly) c.22A>G (p.Arg8Gly) c.81A>G c.1402-10228A>G (n.1402-10228A>G) c.2341A>G (p.Arg781Gly) c.2521A>G (p.Arg841Gly) c.2188A>G (p.Arg730Gly) | gnomAD v4 |
7 | g.117592598A>T | CA368981255 | CFTR | c.2431A>T (p.Arg811Trp) c.*2145A>T (n.*2145A>T) c.2248A>T (p.Arg750Trp) c.*731A>T (n.*731A>T) c.*2255A>T (n.*2255A>T) c.2005A>T (p.Arg669Trp) c.22A>T (p.Arg8Trp) c.81A>T c.1402-10228A>T (n.1402-10228A>T) c.2341A>T (p.Arg781Trp) c.2521A>T (p.Arg841Trp) c.2188A>T (p.Arg730Trp) | |
7 | g.117592599G>A | CA368981259 | CFTR | c.2432G>A (p.Arg811Lys) c.*2146G>A (n.*2146G>A) c.2249G>A (p.Arg750Lys) c.*732G>A (n.*732G>A) c.*2256G>A (n.*2256G>A) c.2006G>A (p.Arg669Lys) c.23G>A (p.Arg8Lys) c.82G>A c.1402-10227G>A (n.1402-10227G>A) c.2342G>A (p.Arg781Lys) c.2522G>A (p.Arg841Lys) c.2189G>A (p.Arg730Lys) | dbSNP |
7 | g.117592599G>C | CA368981261 | CFTR | c.2432G>C (p.Arg811Thr) c.*2146G>C (n.*2146G>C) c.2249G>C (p.Arg750Thr) c.*732G>C (n.*732G>C) c.*2256G>C (n.*2256G>C) c.2006G>C (p.Arg669Thr) c.23G>C (p.Arg8Thr) c.82G>C c.1402-10227G>C (n.1402-10227G>C) c.2342G>C (p.Arg781Thr) c.2522G>C (p.Arg841Thr) c.2189G>C (p.Arg730Thr) | |
7 | g.117592599G= | CA1737395622 | CFTR | c.2432G= (p.Arg811=) c.*2146G= (n.*2146G=) c.2249G= (p.Arg750=) c.*732G= (n.*732G=) c.*2256G= (n.*2256G=) c.2006G= (p.Arg669=) c.23G= (p.Arg8=) c.82G= c.1402-10227G= (n.1402-10227G=) c.2342G= (p.Arg781=) c.2522G= (p.Arg841=) c.2189G= (p.Arg730=) | |
7 | g.117592599G>T | CA368981264 | CFTR | c.2432G>T (p.Arg811Met) c.*2146G>T (n.*2146G>T) c.2249G>T (p.Arg750Met) c.*732G>T (n.*732G>T) c.*2256G>T (n.*2256G>T) c.2006G>T (p.Arg669Met) c.23G>T (p.Arg8Met) c.82G>T c.1402-10227G>T (n.1402-10227G>T) c.2342G>T (p.Arg781Met) c.2522G>T (p.Arg841Met) c.2189G>T (p.Arg730Met) | |
7 | g.117592600G>A | CA457448963 | CFTR | c.2433G>A (p.Arg811=) c.*2147G>A (n.*2147G>A) c.2250G>A (p.Arg750=) c.*733G>A (n.*733G>A) c.*2257G>A (n.*2257G>A) c.2007G>A (p.Arg669=) c.24G>A (p.Arg8=) c.83G>A c.1402-10226G>A (n.1402-10226G>A) c.2343G>A (p.Arg781=) c.2523G>A (p.Arg841=) c.2190G>A (p.Arg730=) | |
7 | g.117592600G>C | CA368981269 | CFTR | c.2433G>C (p.Arg811Ser) c.*2147G>C (n.*2147G>C) c.2250G>C (p.Arg750Ser) c.*733G>C (n.*733G>C) c.*2257G>C (n.*2257G>C) c.2007G>C (p.Arg669Ser) c.24G>C (p.Arg8Ser) c.83G>C c.1402-10226G>C (n.1402-10226G>C) c.2343G>C (p.Arg781Ser) c.2523G>C (p.Arg841Ser) c.2190G>C (p.Arg730Ser) | |
7 | g.117592600G= | CA1737395626 | CFTR | c.2433G= (p.Arg811=) c.*2147G= (n.*2147G=) c.2250G= (p.Arg750=) c.*733G= (n.*733G=) c.*2257G= (n.*2257G=) c.2007G= (p.Arg669=) c.24G= (p.Arg8=) c.83G= c.1402-10226G= (n.1402-10226G=) c.2343G= (p.Arg781=) c.2523G= (p.Arg841=) c.2190G= (p.Arg730=) | |
7 | g.117592600G>T | CA4451182 | CFTR | c.2433G>T (p.Arg811Ser) c.*2147G>T (n.*2147G>T) c.2250G>T (p.Arg750Ser) c.*733G>T (n.*733G>T) c.*2257G>T (n.*2257G>T) c.2007G>T (p.Arg669Ser) c.24G>T (p.Arg8Ser) c.83G>T c.1402-10226G>T (n.1402-10226G>T) c.2343G>T (p.Arg781Ser) c.2523G>T (p.Arg841Ser) c.2190G>T (p.Arg730Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592601T>A | CA368981274 | CFTR | c.2434T>A (p.Leu812Ile) c.*2148T>A (n.*2148T>A) c.2251T>A (p.Leu751Ile) c.*734T>A (n.*734T>A) c.*2258T>A (n.*2258T>A) c.2008T>A (p.Leu670Ile) c.25T>A (p.Leu9Ile) c.84T>A c.1402-10225T>A (n.1402-10225T>A) c.2344T>A (p.Leu782Ile) c.2524T>A (p.Leu842Ile) c.2191T>A (p.Leu731Ile) | ClinVar |
7 | g.117592601T>C | CA457448964 | CFTR | c.2434T>C (p.Leu812=) c.*2148T>C (n.*2148T>C) c.2251T>C (p.Leu751=) c.*734T>C (n.*734T>C) c.*2258T>C (n.*2258T>C) c.2008T>C (p.Leu670=) c.25T>C (p.Leu9=) c.84T>C c.1402-10225T>C (n.1402-10225T>C) c.2344T>C (p.Leu782=) c.2524T>C (p.Leu842=) c.2191T>C (p.Leu731=) | ClinVar dbSNP gnomAD v4 |
7 | g.117592601T>G | CA368981276 | CFTR | c.2434T>G (p.Leu812Val) c.*2148T>G (n.*2148T>G) c.2251T>G (p.Leu751Val) c.*734T>G (n.*734T>G) c.*2258T>G (n.*2258T>G) c.2008T>G (p.Leu670Val) c.25T>G (p.Leu9Val) c.84T>G c.1402-10225T>G (n.1402-10225T>G) c.2344T>G (p.Leu782Val) c.2524T>G (p.Leu842Val) c.2191T>G (p.Leu731Val) | |
7 | g.117592601T= | CA1737395632 | CFTR | c.2434T= (p.Leu812=) c.*2148T= (n.*2148T=) c.2251T= (p.Leu751=) c.*734T= (n.*734T=) c.*2258T= (n.*2258T=) c.2008T= (p.Leu670=) c.25T= (p.Leu9=) c.84T= c.1402-10225T= (n.1402-10225T=) c.2344T= (p.Leu782=) c.2524T= (p.Leu842=) c.2191T= (p.Leu731=) | |
7 | g.117592602dup | CA326817 | CFTR | c.2435dup (p.Leu812PhefsTer11) c.*2149dup (n.*2149dup) c.2252dup (p.Leu751PhefsTer11) c.*735dup (n.*735dup) c.*2259dup (n.*2259dup) c.2009dup (p.Leu670PhefsTer11) c.26dup (p.Leu9PhefsTer11) c.85dup c.1402-10224dup (n.1402-10224dup) c.2345dup (p.Leu782PhefsTer11) c.2525dup (p.Leu842PhefsTer11) c.2192dup (p.Leu731PhefsTer11) | ClinVar dbSNP |
7 | g.117592601_117592602dup | CA2695208522 | CFTR | c.2434_2435dup (p.Leu812PhefsTer10) c.*2148_*2149dup (n.*2148_*2149dup) c.2251_2252dup (p.Leu751PhefsTer10) c.*734_*735dup (n.*734_*735dup) c.*2258_*2259dup (n.*2258_*2259dup) c.2008_2009dup (p.Leu670PhefsTer10) c.25_26dup (p.Leu9PhefsTer10) c.84_85dup c.1402-10225_1402-10224dup (n.1402-10225_1402-10224dup) c.2344_2345dup (p.Leu782PhefsTer10) c.2524_2525dup (p.Leu842PhefsTer10) c.2191_2192dup (p.Leu731PhefsTer10) | |
7 | g.117592602T>A | CA368981280 | CFTR | c.2435T>A (p.Leu812Ter) c.*2149T>A (n.*2149T>A) c.2252T>A (p.Leu751Ter) c.*735T>A (n.*735T>A) c.*2259T>A (n.*2259T>A) c.2009T>A (p.Leu670Ter) c.26T>A (p.Leu9Ter) c.85T>A c.1402-10224T>A (n.1402-10224T>A) c.2345T>A (p.Leu782Ter) c.2525T>A (p.Leu842Ter) c.2192T>A (p.Leu731Ter) | |
7 | g.117592602T>C | CA368981283 | CFTR | c.2435T>C (p.Leu812Ser) c.*2149T>C (n.*2149T>C) c.2252T>C (p.Leu751Ser) c.*735T>C (n.*735T>C) c.*2259T>C (n.*2259T>C) c.2009T>C (p.Leu670Ser) c.26T>C (p.Leu9Ser) c.85T>C c.1402-10224T>C (n.1402-10224T>C) c.2345T>C (p.Leu782Ser) c.2525T>C (p.Leu842Ser) c.2192T>C (p.Leu731Ser) | |
7 | g.117592602T>G | CA368981285 | CFTR | c.2435T>G (p.Leu812Ter) c.*2149T>G (n.*2149T>G) c.2252T>G (p.Leu751Ter) c.*735T>G (n.*735T>G) c.*2259T>G (n.*2259T>G) c.2009T>G (p.Leu670Ter) c.26T>G (p.Leu9Ter) c.85T>G c.1402-10224T>G (n.1402-10224T>G) c.2345T>G (p.Leu782Ter) c.2525T>G (p.Leu842Ter) c.2192T>G (p.Leu731Ter) | |
7 | g.117592603A>C | CA368981290 | CFTR | c.2436A>C (p.Leu812Phe) c.*2150A>C (n.*2150A>C) c.2253A>C (p.Leu751Phe) c.*736A>C (n.*736A>C) c.*2260A>C (n.*2260A>C) c.2010A>C (p.Leu670Phe) c.27A>C (p.Leu9Phe) c.86A>C c.1402-10223A>C (n.1402-10223A>C) c.2346A>C (p.Leu782Phe) c.2526A>C (p.Leu842Phe) c.2193A>C (p.Leu731Phe) | |
7 | g.117592603A>G | CA457448965 | CFTR | c.2436A>G (p.Leu812=) c.*2150A>G (n.*2150A>G) c.2253A>G (p.Leu751=) c.*736A>G (n.*736A>G) c.*2260A>G (n.*2260A>G) c.2010A>G (p.Leu670=) c.27A>G (p.Leu9=) c.86A>G c.1402-10223A>G (n.1402-10223A>G) c.2346A>G (p.Leu782=) c.2526A>G (p.Leu842=) c.2193A>G (p.Leu731=) | ClinVar gnomAD v4 |
7 | g.117592603A>T | CA368981292 | CFTR | c.2436A>T (p.Leu812Phe) c.*2150A>T (n.*2150A>T) c.2253A>T (p.Leu751Phe) c.*736A>T (n.*736A>T) c.*2260A>T (n.*2260A>T) c.2010A>T (p.Leu670Phe) c.27A>T (p.Leu9Phe) c.86A>T c.1402-10223A>T (n.1402-10223A>T) c.2346A>T (p.Leu782Phe) c.2526A>T (p.Leu842Phe) c.2193A>T (p.Leu731Phe) | gnomAD v4 COSMIC |
7 | g.117592604T>A | CA368981297 | CFTR | c.2437T>A (p.Ser813Thr) c.*2151T>A (n.*2151T>A) c.2254T>A (p.Ser752Thr) c.*737T>A (n.*737T>A) c.*2261T>A (n.*2261T>A) c.2011T>A (p.Ser671Thr) c.28T>A (p.Ser10Thr) c.87T>A c.1402-10222T>A (n.1402-10222T>A) c.2347T>A (p.Ser783Thr) c.2527T>A (p.Ser843Thr) c.2194T>A (p.Ser732Thr) | |
7 | g.117592604T>C | CA368981298 | CFTR | c.2437T>C (p.Ser813Pro) c.*2151T>C (n.*2151T>C) c.2254T>C (p.Ser752Pro) c.*737T>C (n.*737T>C) c.*2261T>C (n.*2261T>C) c.2011T>C (p.Ser671Pro) c.28T>C (p.Ser10Pro) c.87T>C c.1402-10222T>C (n.1402-10222T>C) c.2347T>C (p.Ser783Pro) c.2527T>C (p.Ser843Pro) c.2194T>C (p.Ser732Pro) | ClinVar dbSNP |
7 | g.117592604T>G | CA368981301 | CFTR | c.2437T>G (p.Ser813Ala) c.*2151T>G (n.*2151T>G) c.2254T>G (p.Ser752Ala) c.*737T>G (n.*737T>G) c.*2261T>G (n.*2261T>G) c.2011T>G (p.Ser671Ala) c.28T>G (p.Ser10Ala) c.87T>G c.1402-10222T>G (n.1402-10222T>G) c.2347T>G (p.Ser783Ala) c.2527T>G (p.Ser843Ala) c.2194T>G (p.Ser732Ala) | |
7 | g.117592604T= | CA1737395635 | CFTR | c.2437T= (p.Ser813=) c.*2151T= (n.*2151T=) c.2254T= (p.Ser752=) c.*737T= (n.*737T=) c.*2261T= (n.*2261T=) c.2011T= (p.Ser671=) c.28T= (p.Ser10=) c.87T= c.1402-10222T= (n.1402-10222T=) c.2347T= (p.Ser783=) c.2527T= (p.Ser843=) c.2194T= (p.Ser732=) | |
7 | g.117592605del | CA2697557578 | CFTR | c.2438del (p.Ser813PhefsTer8) c.*2152del (n.*2152del) c.2255del (p.Ser752PhefsTer8) c.*738del (n.*738del) c.*2262del (n.*2262del) c.2012del (p.Ser671PhefsTer8) c.29del (p.Ser10PhefsTer8) c.88del c.1402-10221del (n.1402-10221del) c.2348del (p.Ser783PhefsTer8) c.2528del (p.Ser843PhefsTer8) c.2195del (p.Ser732PhefsTer8) | ClinVar |
7 | g.117592605C>A | CA368981304 | CFTR | c.2438C>A (p.Ser813Tyr) c.*2152C>A (n.*2152C>A) c.2255C>A (p.Ser752Tyr) c.*738C>A (n.*738C>A) c.*2262C>A (n.*2262C>A) c.2012C>A (p.Ser671Tyr) c.29C>A (p.Ser10Tyr) c.88C>A c.1402-10221C>A (n.1402-10221C>A) c.2348C>A (p.Ser783Tyr) c.2528C>A (p.Ser843Tyr) c.2195C>A (p.Ser732Tyr) | gnomAD v4 |
7 | g.117592605C>G | CA368981307 | CFTR | c.2438C>G (p.Ser813Cys) c.*2152C>G (n.*2152C>G) c.2255C>G (p.Ser752Cys) c.*738C>G (n.*738C>G) c.*2262C>G (n.*2262C>G) c.2012C>G (p.Ser671Cys) c.29C>G (p.Ser10Cys) c.88C>G c.1402-10221C>G (n.1402-10221C>G) c.2348C>G (p.Ser783Cys) c.2528C>G (p.Ser843Cys) c.2195C>G (p.Ser732Cys) | |
7 | g.117592605C>T | CA368981309 | CFTR | c.2438C>T (p.Ser813Phe) c.*2152C>T (n.*2152C>T) c.2255C>T (p.Ser752Phe) c.*738C>T (n.*738C>T) c.*2262C>T (n.*2262C>T) c.2012C>T (p.Ser671Phe) c.29C>T (p.Ser10Phe) c.88C>T c.1402-10221C>T (n.1402-10221C>T) c.2348C>T (p.Ser783Phe) c.2528C>T (p.Ser843Phe) c.2195C>T (p.Ser732Phe) | gnomAD v4 |
7 | g.117592606T>A | CA457448966 | CFTR | c.2439T>A (p.Ser813=) c.*2153T>A (n.*2153T>A) c.2256T>A (p.Ser752=) c.*739T>A (n.*739T>A) c.*2263T>A (n.*2263T>A) c.2013T>A (p.Ser671=) c.30T>A (p.Ser10=) c.89T>A c.1402-10220T>A (n.1402-10220T>A) c.2349T>A (p.Ser783=) c.2529T>A (p.Ser843=) c.2196T>A (p.Ser732=) | |
7 | g.117592606T>C | CA457448967 | CFTR | c.2439T>C (p.Ser813=) c.*2153T>C (n.*2153T>C) c.2256T>C (p.Ser752=) c.*739T>C (n.*739T>C) c.*2263T>C (n.*2263T>C) c.2013T>C (p.Ser671=) c.30T>C (p.Ser10=) c.89T>C c.1402-10220T>C (n.1402-10220T>C) c.2349T>C (p.Ser783=) c.2529T>C (p.Ser843=) c.2196T>C (p.Ser732=) | ClinVar dbSNP gnomAD v4 COSMIC |
7 | g.117592606T>G | CA457448968 | CFTR | c.2439T>G (p.Ser813=) c.*2153T>G (n.*2153T>G) c.2256T>G (p.Ser752=) c.*739T>G (n.*739T>G) c.*2263T>G (n.*2263T>G) c.2013T>G (p.Ser671=) c.30T>G (p.Ser10=) c.89T>G c.1402-10220T>G (n.1402-10220T>G) c.2349T>G (p.Ser783=) c.2529T>G (p.Ser843=) c.2196T>G (p.Ser732=) | |
7 | g.117592607C>A | CA368981313 | CFTR | c.2440C>A (p.Gln814Lys) c.*2154C>A (n.*2154C>A) c.2257C>A (p.Gln753Lys) c.*740C>A (n.*740C>A) c.*2264C>A (n.*2264C>A) c.2014C>A (p.Gln672Lys) c.31C>A (p.Gln11Lys) c.90C>A c.1402-10219C>A (n.1402-10219C>A) c.2350C>A (p.Gln784Lys) c.2530C>A (p.Gln844Lys) c.2197C>A (p.Gln733Lys) | gnomAD v4 |
7 | g.117592607C= | CA1737395639 | CFTR | c.2440C= (p.Gln814=) c.*2154C= (n.*2154C=) c.2257C= (p.Gln753=) c.*740C= (n.*740C=) c.*2264C= (n.*2264C=) c.2014C= (p.Gln672=) c.31C= (p.Gln11=) c.90C= c.1402-10219C= (n.1402-10219C=) c.2350C= (p.Gln784=) c.2530C= (p.Gln844=) c.2197C= (p.Gln733=) | |
7 | g.117592607C>G | CA368981317 | CFTR | c.2440C>G (p.Gln814Glu) c.*2154C>G (n.*2154C>G) c.2257C>G (p.Gln753Glu) c.*740C>G (n.*740C>G) c.*2264C>G (n.*2264C>G) c.2014C>G (p.Gln672Glu) c.31C>G (p.Gln11Glu) c.90C>G c.1402-10219C>G (n.1402-10219C>G) c.2350C>G (p.Gln784Glu) c.2530C>G (p.Gln844Glu) c.2197C>G (p.Gln733Glu) | |
7 | g.117592607C>T | CA326818 | CFTR | c.2440C>T (p.Gln814Ter) c.*2154C>T (n.*2154C>T) c.2257C>T (p.Gln753Ter) c.*740C>T (n.*740C>T) c.*2264C>T (n.*2264C>T) c.2014C>T (p.Gln672Ter) c.31C>T (p.Gln11Ter) c.90C>T c.1402-10219C>T (n.1402-10219C>T) c.2350C>T (p.Gln784Ter) c.2530C>T (p.Gln844Ter) c.2197C>T (p.Gln733Ter) | ClinVar dbSNP |
7 | g.117592608A= | CA1737395642 | CFTR | c.2441A= (p.Gln814=) c.*2155A= (n.*2155A=) c.2258A= (p.Gln753=) c.*741A= (n.*741A=) c.*2265A= (n.*2265A=) c.2015A= (p.Gln672=) c.32A= (p.Gln11=) c.91A= c.1402-10218A= (n.1402-10218A=) c.2351A= (p.Gln784=) c.2531A= (p.Gln844=) c.2198A= (p.Gln733=) | |
7 | g.117592608A>C | CA368981321 | CFTR | c.2441A>C (p.Gln814Pro) c.*2155A>C (n.*2155A>C) c.2258A>C (p.Gln753Pro) c.*741A>C (n.*741A>C) c.*2265A>C (n.*2265A>C) c.2015A>C (p.Gln672Pro) c.32A>C (p.Gln11Pro) c.91A>C c.1402-10218A>C (n.1402-10218A>C) c.2351A>C (p.Gln784Pro) c.2531A>C (p.Gln844Pro) c.2198A>C (p.Gln733Pro) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592608A>G | CA368981327 | CFTR | c.2441A>G (p.Gln814Arg) c.*2155A>G (n.*2155A>G) c.2258A>G (p.Gln753Arg) c.*741A>G (n.*741A>G) c.*2265A>G (n.*2265A>G) c.2015A>G (p.Gln672Arg) c.32A>G (p.Gln11Arg) c.91A>G c.1402-10218A>G (n.1402-10218A>G) c.2351A>G (p.Gln784Arg) c.2531A>G (p.Gln844Arg) c.2198A>G (p.Gln733Arg) | gnomAD v4 |
7 | g.117592608A>T | CA368981325 | CFTR | c.2441A>T (p.Gln814Leu) c.*2155A>T (n.*2155A>T) c.2258A>T (p.Gln753Leu) c.*741A>T (n.*741A>T) c.*2265A>T (n.*2265A>T) c.2015A>T (p.Gln672Leu) c.32A>T (p.Gln11Leu) c.91A>T c.1402-10218A>T (n.1402-10218A>T) c.2351A>T (p.Gln784Leu) c.2531A>T (p.Gln844Leu) c.2198A>T (p.Gln733Leu) | |
7 | g.117592609del | CA2684619363 | CFTR | c.2442del (p.Glu815LysfsTer6) c.*2156del (n.*2156del) c.2259del (p.Glu754LysfsTer6) c.*742del (n.*742del) c.*2266del (n.*2266del) c.2016del (p.Glu673LysfsTer6) c.33del (p.Glu12LysfsTer6) c.92del c.1402-10217del (n.1402-10217del) c.2352del (p.Glu785LysfsTer6) c.2532del (p.Glu845LysfsTer6) c.2199del (p.Glu734LysfsTer6) | gnomAD v4 |
7 | g.117592609A= | CA1737395645 | CFTR | c.2442A= (p.Gln814=) c.*2156A= (n.*2156A=) c.2259A= (p.Gln753=) c.*742A= (n.*742A=) c.*2266A= (n.*2266A=) c.2016A= (p.Gln672=) c.33A= (p.Gln11=) c.92A= c.1402-10217A= (n.1402-10217A=) c.2352A= (p.Gln784=) c.2532A= (p.Gln844=) c.2199A= (p.Gln733=) | |
7 | g.117592609A>C | CA368981331 | CFTR | c.2442A>C (p.Gln814His) c.*2156A>C (n.*2156A>C) c.2259A>C (p.Gln753His) c.*742A>C (n.*742A>C) c.*2266A>C (n.*2266A>C) c.2016A>C (p.Gln672His) c.33A>C (p.Gln11His) c.92A>C c.1402-10217A>C (n.1402-10217A>C) c.2352A>C (p.Gln784His) c.2532A>C (p.Gln844His) c.2199A>C (p.Gln733His) | |
7 | g.117592609A>G | CA457448969 | CFTR | c.2442A>G (p.Gln814=) c.*2156A>G (n.*2156A>G) c.2259A>G (p.Gln753=) c.*742A>G (n.*742A>G) c.*2266A>G (n.*2266A>G) c.2016A>G (p.Gln672=) c.33A>G (p.Gln11=) c.92A>G c.1402-10217A>G (n.1402-10217A>G) c.2352A>G (p.Gln784=) c.2532A>G (p.Gln844=) c.2199A>G (p.Gln733=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592609A>T | CA368981332 | CFTR | c.2442A>T (p.Gln814His) c.*2156A>T (n.*2156A>T) c.2259A>T (p.Gln753His) c.*742A>T (n.*742A>T) c.*2266A>T (n.*2266A>T) c.2016A>T (p.Gln672His) c.33A>T (p.Gln11His) c.92A>T c.1402-10217A>T (n.1402-10217A>T) c.2352A>T (p.Gln784His) c.2532A>T (p.Gln844His) c.2199A>T (p.Gln733His) | |
7 | g.117592609_117592610delinsAG | CA1737395646 | CFTR | c.2442_2443delinsAG (p.Gln814=) c.*2156_*2157delinsAG (n.*2156_*2157delinsAG) c.2259_2260delinsAG (p.Gln753=) c.*742_*743delinsAG (n.*742_*743delinsAG) c.*2266_*2267delinsAG (n.*2266_*2267delinsAG) c.2016_2017delinsAG (p.Gln672=) c.33_34delinsAG (p.Gln11=) c.92_93delinsAG c.1402-10217_1402-10216delinsAG (n.1402-10217_1402-10216delinsAG) c.2352_2353delinsAG (p.Gln784=) c.2532_2533delinsAG (p.Gln844=) c.2199_2200delinsAG (p.Gln733=) | |
7 | g.117592610del | CA915945428 | CFTR | c.2443del (p.Glu815LysfsTer6) c.*2157del (n.*2157del) c.2260del (p.Glu754LysfsTer6) c.*743del (n.*743del) c.*2267del (n.*2267del) c.2017del (p.Glu673LysfsTer6) c.34del (p.Glu12LysfsTer6) c.93del c.1402-10216del (n.1402-10216del) c.2353del (p.Glu785LysfsTer6) c.2533del (p.Glu845LysfsTer6) c.2200del (p.Glu734LysfsTer6) | ClinVar dbSNP |
7 | g.117592610G>A | CA368981337 | CFTR | c.2443G>A (p.Glu815Lys) c.*2157G>A (n.*2157G>A) c.2260G>A (p.Glu754Lys) c.*743G>A (n.*743G>A) c.*2267G>A (n.*2267G>A) c.2017G>A (p.Glu673Lys) c.34G>A (p.Glu12Lys) c.93G>A c.1402-10216G>A (n.1402-10216G>A) c.2353G>A (p.Glu785Lys) c.2533G>A (p.Glu845Lys) c.2200G>A (p.Glu734Lys) | |
7 | g.117592610G>C | CA368981339 | CFTR | c.2443G>C (p.Glu815Gln) c.*2157G>C (n.*2157G>C) c.2260G>C (p.Glu754Gln) c.*743G>C (n.*743G>C) c.*2267G>C (n.*2267G>C) c.2017G>C (p.Glu673Gln) c.34G>C (p.Glu12Gln) c.93G>C c.1402-10216G>C (n.1402-10216G>C) c.2353G>C (p.Glu785Gln) c.2533G>C (p.Glu845Gln) c.2200G>C (p.Glu734Gln) | |
7 | g.117592610G= | CA1737395653 | CFTR | c.2443G= (p.Glu815=) c.*2157G= (n.*2157G=) c.2260G= (p.Glu754=) c.*743G= (n.*743G=) c.*2267G= (n.*2267G=) c.2017G= (p.Glu673=) c.34G= (p.Glu12=) c.93G= c.1402-10216G= (n.1402-10216G=) c.2353G= (p.Glu785=) c.2533G= (p.Glu845=) c.2200G= (p.Glu734=) | |
7 | g.117592610G>T | CA273034 | CFTR | c.2443G>T (p.Glu815Ter) c.*2157G>T (n.*2157G>T) c.2260G>T (p.Glu754Ter) c.*743G>T (n.*743G>T) c.*2267G>T (n.*2267G>T) c.2017G>T (p.Glu673Ter) c.34G>T (p.Glu12Ter) c.93G>T c.1402-10216G>T (n.1402-10216G>T) c.2353G>T (p.Glu785Ter) c.2533G>T (p.Glu845Ter) c.2200G>T (p.Glu734Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
7 | g.117592611A>C | CA368981343 | CFTR | c.2444A>C (p.Glu815Ala) c.*2158A>C (n.*2158A>C) c.2261A>C (p.Glu754Ala) c.*744A>C (n.*744A>C) c.*2268A>C (n.*2268A>C) c.2018A>C (p.Glu673Ala) c.35A>C (p.Glu12Ala) c.94A>C c.1402-10215A>C (n.1402-10215A>C) c.2354A>C (p.Glu785Ala) c.2534A>C (p.Glu845Ala) c.2201A>C (p.Glu734Ala) | |
7 | g.117592611A>G | CA368981345 | CFTR | c.2444A>G (p.Glu815Gly) c.*2158A>G (n.*2158A>G) c.2261A>G (p.Glu754Gly) c.*744A>G (n.*744A>G) c.*2268A>G (n.*2268A>G) c.2018A>G (p.Glu673Gly) c.35A>G (p.Glu12Gly) c.94A>G c.1402-10215A>G (n.1402-10215A>G) c.2354A>G (p.Glu785Gly) c.2534A>G (p.Glu845Gly) c.2201A>G (p.Glu734Gly) | |
7 | g.117592611A>T | CA368981348 | CFTR | c.2444A>T (p.Glu815Val) c.*2158A>T (n.*2158A>T) c.2261A>T (p.Glu754Val) c.*744A>T (n.*744A>T) c.*2268A>T (n.*2268A>T) c.2018A>T (p.Glu673Val) c.35A>T (p.Glu12Val) c.94A>T c.1402-10215A>T (n.1402-10215A>T) c.2354A>T (p.Glu785Val) c.2534A>T (p.Glu845Val) c.2201A>T (p.Glu734Val) | gnomAD v4 |
7 | g.117592613del | CA2695208523 | CFTR | c.2446del (p.Thr816LeufsTer5) c.*2160del (n.*2160del) c.2263del (p.Thr755LeufsTer5) c.*746del (n.*746del) c.*2270del (n.*2270del) c.2020del (p.Thr674LeufsTer5) c.37del (p.Thr13LeufsTer5) c.96del c.1402-10213del (n.1402-10213del) c.2356del (p.Thr786LeufsTer5) c.2536del (p.Thr846LeufsTer5) c.2203del (p.Thr735LeufsTer5) | |
7 | g.117592612A>C | CA368981352 | CFTR | c.2445A>C (p.Glu815Asp) c.*2159A>C (n.*2159A>C) c.2262A>C (p.Glu754Asp) c.*745A>C (n.*745A>C) c.*2269A>C (n.*2269A>C) c.2019A>C (p.Glu673Asp) c.36A>C (p.Glu12Asp) c.95A>C c.1402-10214A>C (n.1402-10214A>C) c.2355A>C (p.Glu785Asp) c.2535A>C (p.Glu845Asp) c.2202A>C (p.Glu734Asp) | |
7 | g.117592612A>G | CA457448970 | CFTR | c.2445A>G (p.Glu815=) c.*2159A>G (n.*2159A>G) c.2262A>G (p.Glu754=) c.*745A>G (n.*745A>G) c.*2269A>G (n.*2269A>G) c.2019A>G (p.Glu673=) c.36A>G (p.Glu12=) c.95A>G c.1402-10214A>G (n.1402-10214A>G) c.2355A>G (p.Glu785=) c.2535A>G (p.Glu845=) c.2202A>G (p.Glu734=) | |
7 | g.117592612A>T | CA368981355 | CFTR | c.2445A>T (p.Glu815Asp) c.*2159A>T (n.*2159A>T) c.2262A>T (p.Glu754Asp) c.*745A>T (n.*745A>T) c.*2269A>T (n.*2269A>T) c.2019A>T (p.Glu673Asp) c.36A>T (p.Glu12Asp) c.95A>T c.1402-10214A>T (n.1402-10214A>T) c.2355A>T (p.Glu785Asp) c.2535A>T (p.Glu845Asp) c.2202A>T (p.Glu734Asp) | |
7 | g.117592613A>C | CA368981359 | CFTR | c.2446A>C (p.Thr816Pro) c.*2160A>C (n.*2160A>C) c.2263A>C (p.Thr755Pro) c.*746A>C (n.*746A>C) c.*2270A>C (n.*2270A>C) c.2020A>C (p.Thr674Pro) c.37A>C (p.Thr13Pro) c.96A>C c.1402-10213A>C (n.1402-10213A>C) c.2356A>C (p.Thr786Pro) c.2536A>C (p.Thr846Pro) c.2203A>C (p.Thr735Pro) | ClinVar |
7 | g.117592613A>G | CA368981360 | CFTR | c.2446A>G (p.Thr816Ala) c.*2160A>G (n.*2160A>G) c.2263A>G (p.Thr755Ala) c.*746A>G (n.*746A>G) c.*2270A>G (n.*2270A>G) c.2020A>G (p.Thr674Ala) c.37A>G (p.Thr13Ala) c.96A>G c.1402-10213A>G (n.1402-10213A>G) c.2356A>G (p.Thr786Ala) c.2536A>G (p.Thr846Ala) c.2203A>G (p.Thr735Ala) | |
7 | g.117592613A>T | CA368981363 | CFTR | c.2446A>T (p.Thr816Ser) c.*2160A>T (n.*2160A>T) c.2263A>T (p.Thr755Ser) c.*746A>T (n.*746A>T) c.*2270A>T (n.*2270A>T) c.2020A>T (p.Thr674Ser) c.37A>T (p.Thr13Ser) c.96A>T c.1402-10213A>T (n.1402-10213A>T) c.2356A>T (p.Thr786Ser) c.2536A>T (p.Thr846Ser) c.2203A>T (p.Thr735Ser) | |
7 | g.117592614C>A | CA368981372 | CFTR | c.2447C>A (p.Thr816Asn) c.*2161C>A (n.*2161C>A) c.2264C>A (p.Thr755Asn) c.*747C>A (n.*747C>A) c.*2271C>A (n.*2271C>A) c.2021C>A (p.Thr674Asn) c.38C>A (p.Thr13Asn) c.97C>A c.1402-10212C>A (n.1402-10212C>A) c.2357C>A (p.Thr786Asn) c.2537C>A (p.Thr846Asn) c.2204C>A (p.Thr735Asn) | gnomAD v4 |
7 | g.117592614C>G | CA368981367 | CFTR | c.2447C>G (p.Thr816Ser) c.*2161C>G (n.*2161C>G) c.2264C>G (p.Thr755Ser) c.*747C>G (n.*747C>G) c.*2271C>G (n.*2271C>G) c.2021C>G (p.Thr674Ser) c.38C>G (p.Thr13Ser) c.97C>G c.1402-10212C>G (n.1402-10212C>G) c.2357C>G (p.Thr786Ser) c.2537C>G (p.Thr846Ser) c.2204C>G (p.Thr735Ser) | |
7 | g.117592614C>T | CA368981368 | CFTR | c.2447C>T (p.Thr816Ile) c.*2161C>T (n.*2161C>T) c.2264C>T (p.Thr755Ile) c.*747C>T (n.*747C>T) c.*2271C>T (n.*2271C>T) c.2021C>T (p.Thr674Ile) c.38C>T (p.Thr13Ile) c.97C>T c.1402-10212C>T (n.1402-10212C>T) c.2357C>T (p.Thr786Ile) c.2537C>T (p.Thr846Ile) c.2204C>T (p.Thr735Ile) | |
7 | g.117592615T>A | CA457448973 | CFTR | c.2448T>A (p.Thr816=) c.*2162T>A (n.*2162T>A) c.2265T>A (p.Thr755=) c.*748T>A (n.*748T>A) c.*2272T>A (n.*2272T>A) c.2022T>A (p.Thr674=) c.39T>A (p.Thr13=) c.98T>A c.1402-10211T>A (n.1402-10211T>A) c.2358T>A (p.Thr786=) c.2538T>A (p.Thr846=) c.2205T>A (p.Thr735=) | |
7 | g.117592615T>C | CA457448972 | CFTR | c.2448T>C (p.Thr816=) c.*2162T>C (n.*2162T>C) c.2265T>C (p.Thr755=) c.*748T>C (n.*748T>C) c.*2272T>C (n.*2272T>C) c.2022T>C (p.Thr674=) c.39T>C (p.Thr13=) c.98T>C c.1402-10211T>C (n.1402-10211T>C) c.2358T>C (p.Thr786=) c.2538T>C (p.Thr846=) c.2205T>C (p.Thr735=) | |
7 | g.117592615T>G | CA457448971 | CFTR | c.2448T>G (p.Thr816=) c.*2162T>G (n.*2162T>G) c.2265T>G (p.Thr755=) c.*748T>G (n.*748T>G) c.*2272T>G (n.*2272T>G) c.2022T>G (p.Thr674=) c.39T>G (p.Thr13=) c.98T>G c.1402-10211T>G (n.1402-10211T>G) c.2358T>G (p.Thr786=) c.2538T>G (p.Thr846=) c.2205T>G (p.Thr735=) | |
7 | g.117592615_117592616delinsTG | CA1737395658 | CFTR | c.2448_2449delinsTG (p.Thr816=) c.*2162_*2163delinsTG (n.*2162_*2163delinsTG) c.2265_2266delinsTG (p.Thr755=) c.*748_*749delinsTG (n.*748_*749delinsTG) c.*2272_*2273delinsTG (n.*2272_*2273delinsTG) c.2022_2023delinsTG (p.Thr674=) c.39_40delinsTG (p.Thr13=) c.98_99delinsTG c.1402-10211_1402-10210delinsTG (n.1402-10211_1402-10210delinsTG) c.2358_2359delinsTG (p.Thr786=) c.2538_2539delinsTG (p.Thr846=) c.2205_2206delinsTG (p.Thr735=) | |
7 | g.117592616G>A | CA368981376 | CFTR | c.2449G>A (p.Gly817Ser) c.*2163G>A (n.*2163G>A) c.2266G>A (p.Gly756Ser) c.*749G>A (n.*749G>A) c.*2273G>A (n.*2273G>A) c.2023G>A (p.Gly675Ser) c.40G>A (p.Gly14Ser) c.99G>A c.1402-10210G>A (n.1402-10210G>A) c.2359G>A (p.Gly787Ser) c.2539G>A (p.Gly847Ser) c.2206G>A (p.Gly736Ser) | |
7 | g.117592616G>C | CA368981379 | CFTR | c.2449G>C (p.Gly817Arg) c.*2163G>C (n.*2163G>C) c.2266G>C (p.Gly756Arg) c.*749G>C (n.*749G>C) c.*2273G>C (n.*2273G>C) c.2023G>C (p.Gly675Arg) c.40G>C (p.Gly14Arg) c.99G>C c.1402-10210G>C (n.1402-10210G>C) c.2359G>C (p.Gly787Arg) c.2539G>C (p.Gly847Arg) c.2206G>C (p.Gly736Arg) | |
7 | g.117592616G>T | CA368981383 | CFTR | c.2449G>T (p.Gly817Cys) c.*2163G>T (n.*2163G>T) c.2266G>T (p.Gly756Cys) c.*749G>T (n.*749G>T) c.*2273G>T (n.*2273G>T) c.2023G>T (p.Gly675Cys) c.40G>T (p.Gly14Cys) c.99G>T c.1402-10210G>T (n.1402-10210G>T) c.2359G>T (p.Gly787Cys) c.2539G>T (p.Gly847Cys) c.2206G>T (p.Gly736Cys) | gnomAD v4 |
7 | g.117592617del | CA915945429 | CFTR | c.2450del (p.Gly817AlafsTer4) c.*2164del (n.*2164del) c.2267del (p.Gly756AlafsTer4) c.*750del (n.*750del) c.*2274del (n.*2274del) c.2024del (p.Gly675AlafsTer4) c.41del (p.Gly14AlafsTer4) c.100del c.1402-10209del (n.1402-10209del) c.2360del (p.Gly787AlafsTer4) c.2540del (p.Gly847AlafsTer4) c.2207del (p.Gly736AlafsTer4) | ClinVar dbSNP |
7 | g.117592617G>A | CA368981385 | CFTR | c.2450G>A (p.Gly817Asp) c.*2164G>A (n.*2164G>A) c.2267G>A (p.Gly756Asp) c.*750G>A (n.*750G>A) c.*2274G>A (n.*2274G>A) c.2024G>A (p.Gly675Asp) c.41G>A (p.Gly14Asp) c.100G>A c.1402-10209G>A (n.1402-10209G>A) c.2360G>A (p.Gly787Asp) c.2540G>A (p.Gly847Asp) c.2207G>A (p.Gly736Asp) | |
7 | g.117592617G>C | CA368981388 | CFTR | c.2450G>C (p.Gly817Ala) c.*2164G>C (n.*2164G>C) c.2267G>C (p.Gly756Ala) c.*750G>C (n.*750G>C) c.*2274G>C (n.*2274G>C) c.2024G>C (p.Gly675Ala) c.41G>C (p.Gly14Ala) c.100G>C c.1402-10209G>C (n.1402-10209G>C) c.2360G>C (p.Gly787Ala) c.2540G>C (p.Gly847Ala) c.2207G>C (p.Gly736Ala) | |
7 | g.117592617G= | CA1737395669 | CFTR | c.2450G= (p.Gly817=) c.*2164G= (n.*2164G=) c.2267G= (p.Gly756=) c.*750G= (n.*750G=) c.*2274G= (n.*2274G=) c.2024G= (p.Gly675=) c.41G= (p.Gly14=) c.100G= c.1402-10209G= (n.1402-10209G=) c.2360G= (p.Gly787=) c.2540G= (p.Gly847=) c.2207G= (p.Gly736=) | |
7 | g.117592617G>T | CA4451183 | CFTR | c.2450G>T (p.Gly817Val) c.*2164G>T (n.*2164G>T) c.2267G>T (p.Gly756Val) c.*750G>T (n.*750G>T) c.*2274G>T (n.*2274G>T) c.2024G>T (p.Gly675Val) c.41G>T (p.Gly14Val) c.100G>T c.1402-10209G>T (n.1402-10209G>T) c.2360G>T (p.Gly787Val) c.2540G>T (p.Gly847Val) c.2207G>T (p.Gly736Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592618C>A | CA457448974 | CFTR | c.2451C>A (p.Gly817=) c.*2165C>A (n.*2165C>A) c.2268C>A (p.Gly756=) c.*751C>A (n.*751C>A) c.*2275C>A (n.*2275C>A) c.2025C>A (p.Gly675=) c.42C>A (p.Gly14=) c.101C>A c.1402-10208C>A (n.1402-10208C>A) c.2361C>A (p.Gly787=) c.2541C>A (p.Gly847=) c.2208C>A (p.Gly736=) | gnomAD v4 |
7 | g.117592618C>G | CA457448975 | CFTR | c.2451C>G (p.Gly817=) c.*2165C>G (n.*2165C>G) c.2268C>G (p.Gly756=) c.*751C>G (n.*751C>G) c.*2275C>G (n.*2275C>G) c.2025C>G (p.Gly675=) c.42C>G (p.Gly14=) c.101C>G c.1402-10208C>G (n.1402-10208C>G) c.2361C>G (p.Gly787=) c.2541C>G (p.Gly847=) c.2208C>G (p.Gly736=) | gnomAD v4 |
7 | g.117592618C>T | CA457448976 | CFTR | c.2451C>T (p.Gly817=) c.*2165C>T (n.*2165C>T) c.2268C>T (p.Gly756=) c.*751C>T (n.*751C>T) c.*2275C>T (n.*2275C>T) c.2025C>T (p.Gly675=) c.42C>T (p.Gly14=) c.101C>T c.1402-10208C>T (n.1402-10208C>T) c.2361C>T (p.Gly787=) c.2541C>T (p.Gly847=) c.2208C>T (p.Gly736=) | |
7 | g.117592618_117592619delinsCT | CA1737395673 | CFTR | c.2451_2452delinsCT (p.Gly817=) c.*2165_*2166delinsCT (n.*2165_*2166delinsCT) c.2268_2269delinsCT (p.Gly756=) c.*751_*752delinsCT (n.*751_*752delinsCT) c.*2275_*2276delinsCT (n.*2275_*2276delinsCT) c.2025_2026delinsCT (p.Gly675=) c.42_43delinsCT (p.Gly14=) c.101_102delinsCT c.1402-10208_1402-10207delinsCT (n.1402-10208_1402-10207delinsCT) c.2361_2362delinsCT (p.Gly787=) c.2541_2542delinsCT (p.Gly847=) c.2208_2209delinsCT (p.Gly736=) | |
7 | g.117592619T>A | CA368981393 | CFTR | c.2452T>A (p.Leu818Met) c.*2166T>A (n.*2166T>A) c.2269T>A (p.Leu757Met) c.*752T>A (n.*752T>A) c.*2276T>A (n.*2276T>A) c.2026T>A (p.Leu676Met) c.43T>A (p.Leu15Met) c.102T>A c.1402-10207T>A (n.1402-10207T>A) c.2362T>A (p.Leu788Met) c.2542T>A (p.Leu848Met) c.2209T>A (p.Leu737Met) | |
7 | g.117592619T>C | CA457448977 | CFTR | c.2452T>C (p.Leu818=) c.*2166T>C (n.*2166T>C) c.2269T>C (p.Leu757=) c.*752T>C (n.*752T>C) c.*2276T>C (n.*2276T>C) c.2026T>C (p.Leu676=) c.43T>C (p.Leu15=) c.102T>C c.1402-10207T>C (n.1402-10207T>C) c.2362T>C (p.Leu788=) c.2542T>C (p.Leu848=) c.2209T>C (p.Leu737=) | |
7 | g.117592619T>G | CA368981396 | CFTR | c.2452T>G (p.Leu818Val) c.*2166T>G (n.*2166T>G) c.2269T>G (p.Leu757Val) c.*752T>G (n.*752T>G) c.*2276T>G (n.*2276T>G) c.2026T>G (p.Leu676Val) c.43T>G (p.Leu15Val) c.102T>G c.1402-10207T>G (n.1402-10207T>G) c.2362T>G (p.Leu788Val) c.2542T>G (p.Leu848Val) c.2209T>G (p.Leu737Val) | ClinVar gnomAD v4 |
7 | g.117592620del | CA264801 | CFTR | c.2453del (p.Leu818TrpfsTer3) c.*2167del (n.*2167del) c.2270del (p.Leu757TrpfsTer3) c.*753del (n.*753del) c.*2277del (n.*2277del) c.2027del (p.Leu676TrpfsTer3) c.44del (p.Leu15TrpfsTer3) c.103del c.1402-10206del (n.1402-10206del) c.2363del (p.Leu788TrpfsTer3) c.2543del (p.Leu848TrpfsTer3) c.2210del (p.Leu737TrpfsTer3) | ClinVar dbSNP gnomAD v4 |
7 | g.117592620T>A | CA368981403 | CFTR | c.2453T>A (p.Leu818Ter) c.*2167T>A (n.*2167T>A) c.2270T>A (p.Leu757Ter) c.*753T>A (n.*753T>A) c.*2277T>A (n.*2277T>A) c.2027T>A (p.Leu676Ter) c.44T>A (p.Leu15Ter) c.103T>A c.1402-10206T>A (n.1402-10206T>A) c.2363T>A (p.Leu788Ter) c.2543T>A (p.Leu848Ter) c.2210T>A (p.Leu737Ter) | |
7 | g.117592620T>C | CA368981405 | CFTR | c.2453T>C (p.Leu818Ser) c.*2167T>C (n.*2167T>C) c.2270T>C (p.Leu757Ser) c.*753T>C (n.*753T>C) c.*2277T>C (n.*2277T>C) c.2027T>C (p.Leu676Ser) c.44T>C (p.Leu15Ser) c.103T>C c.1402-10206T>C (n.1402-10206T>C) c.2363T>C (p.Leu788Ser) c.2543T>C (p.Leu848Ser) c.2210T>C (p.Leu737Ser) | gnomAD v4 |
7 | g.117592620T>G | CA368981407 | CFTR | c.2453T>G (p.Leu818Trp) c.*2167T>G (n.*2167T>G) c.2270T>G (p.Leu757Trp) c.*753T>G (n.*753T>G) c.*2277T>G (n.*2277T>G) c.2027T>G (p.Leu676Trp) c.44T>G (p.Leu15Trp) c.103T>G c.1402-10206T>G (n.1402-10206T>G) c.2363T>G (p.Leu788Trp) c.2543T>G (p.Leu848Trp) c.2210T>G (p.Leu737Trp) | |
7 | g.117592621G>A | CA457448978 | CFTR | c.2454G>A (p.Leu818=) c.*2168G>A (n.*2168G>A) c.2271G>A (p.Leu757=) c.*754G>A (n.*754G>A) c.*2278G>A (n.*2278G>A) c.2028G>A (p.Leu676=) c.45G>A (p.Leu15=) c.104G>A c.1402-10205G>A (n.1402-10205G>A) c.2364G>A (p.Leu788=) c.2544G>A (p.Leu848=) c.2211G>A (p.Leu737=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.117592621G>C | CA368981412 | CFTR | c.2454G>C (p.Leu818Phe) c.*2168G>C (n.*2168G>C) c.2271G>C (p.Leu757Phe) c.*754G>C (n.*754G>C) c.*2278G>C (n.*2278G>C) c.2028G>C (p.Leu676Phe) c.45G>C (p.Leu15Phe) c.104G>C c.1402-10205G>C (n.1402-10205G>C) c.2364G>C (p.Leu788Phe) c.2544G>C (p.Leu848Phe) c.2211G>C (p.Leu737Phe) | |
7 | g.117592621G= | CA1737395684 | CFTR | c.2454G= (p.Leu818=) c.*2168G= (n.*2168G=) c.2271G= (p.Leu757=) c.*754G= (n.*754G=) c.*2278G= (n.*2278G=) c.2028G= (p.Leu676=) c.45G= (p.Leu15=) c.104G= c.1402-10205G= (n.1402-10205G=) c.2364G= (p.Leu788=) c.2544G= (p.Leu848=) c.2211G= (p.Leu737=) | |
7 | g.117592621G>T | CA368981414 | CFTR | c.2454G>T (p.Leu818Phe) c.*2168G>T (n.*2168G>T) c.2271G>T (p.Leu757Phe) c.*754G>T (n.*754G>T) c.*2278G>T (n.*2278G>T) c.2028G>T (p.Leu676Phe) c.45G>T (p.Leu15Phe) c.104G>T c.1402-10205G>T (n.1402-10205G>T) c.2364G>T (p.Leu788Phe) c.2544G>T (p.Leu848Phe) c.2211G>T (p.Leu737Phe) | gnomAD v4 |
7 | g.117592622del | CA457448979 | CFTR | c.2455del (p.Glu819LysfsTer2) c.*2169del (n.*2169del) c.2272del (p.Glu758LysfsTer2) c.*755del (n.*755del) c.*2279del (n.*2279del) c.2029del (p.Glu677LysfsTer2) c.46del (p.Glu16LysfsTer2) c.105del c.1402-10204del (n.1402-10204del) c.2365del (p.Glu789LysfsTer2) c.2545del (p.Glu849LysfsTer2) c.2212del (p.Glu738LysfsTer2) | COSMIC |
7 | g.117592622G>A | CA368981419 | CFTR | c.2455G>A (p.Glu819Lys) c.*2169G>A (n.*2169G>A) c.2272G>A (p.Glu758Lys) c.*755G>A (n.*755G>A) c.*2279G>A (n.*2279G>A) c.2029G>A (p.Glu677Lys) c.46G>A (p.Glu16Lys) c.105G>A c.1402-10204G>A (n.1402-10204G>A) c.2365G>A (p.Glu789Lys) c.2545G>A (p.Glu849Lys) c.2212G>A (p.Glu738Lys) | gnomAD v4 COSMIC |
7 | g.117592622G>C | CA368981421 | CFTR | c.2455G>C (p.Glu819Gln) c.*2169G>C (n.*2169G>C) c.2272G>C (p.Glu758Gln) c.*755G>C (n.*755G>C) c.*2279G>C (n.*2279G>C) c.2029G>C (p.Glu677Gln) c.46G>C (p.Glu16Gln) c.105G>C c.1402-10204G>C (n.1402-10204G>C) c.2365G>C (p.Glu789Gln) c.2545G>C (p.Glu849Gln) c.2212G>C (p.Glu738Gln) | |
7 | g.117592622G= | CA1737395686 | CFTR | c.2455G= (p.Glu819=) c.*2169G= (n.*2169G=) c.2272G= (p.Glu758=) c.*755G= (n.*755G=) c.*2279G= (n.*2279G=) c.2029G= (p.Glu677=) c.46G= (p.Glu16=) c.105G= c.1402-10204G= (n.1402-10204G=) c.2365G= (p.Glu789=) c.2545G= (p.Glu849=) c.2212G= (p.Glu738=) | |
7 | g.117592622G>T | CA368981425 | CFTR | c.2455G>T (p.Glu819Ter) c.*2169G>T (n.*2169G>T) c.2272G>T (p.Glu758Ter) c.*755G>T (n.*755G>T) c.*2279G>T (n.*2279G>T) c.2029G>T (p.Glu677Ter) c.46G>T (p.Glu16Ter) c.105G>T c.1402-10204G>T (n.1402-10204G>T) c.2365G>T (p.Glu789Ter) c.2545G>T (p.Glu849Ter) c.2212G>T (p.Glu738Ter) | ClinVar dbSNP |
7 | g.117592623A>C | CA368981429 | CFTR | c.2456A>C (p.Glu819Ala) c.*2170A>C (n.*2170A>C) c.2273A>C (p.Glu758Ala) c.*756A>C (n.*756A>C) c.*2280A>C (n.*2280A>C) c.2030A>C (p.Glu677Ala) c.47A>C (p.Glu16Ala) c.106A>C c.1402-10203A>C (n.1402-10203A>C) c.2366A>C (p.Glu789Ala) c.2546A>C (p.Glu849Ala) c.2213A>C (p.Glu738Ala) | |
7 | g.117592623A>G | CA368981430 | CFTR | c.2456A>G (p.Glu819Gly) c.*2170A>G (n.*2170A>G) c.2273A>G (p.Glu758Gly) c.*756A>G (n.*756A>G) c.*2280A>G (n.*2280A>G) c.2030A>G (p.Glu677Gly) c.47A>G (p.Glu16Gly) c.106A>G c.1402-10203A>G (n.1402-10203A>G) c.2366A>G (p.Glu789Gly) c.2546A>G (p.Glu849Gly) c.2213A>G (p.Glu738Gly) | gnomAD v4 |
7 | g.117592623A>T | CA368981431 | CFTR | c.2456A>T (p.Glu819Val) c.*2170A>T (n.*2170A>T) c.2273A>T (p.Glu758Val) c.*756A>T (n.*756A>T) c.*2280A>T (n.*2280A>T) c.2030A>T (p.Glu677Val) c.47A>T (p.Glu16Val) c.106A>T c.1402-10203A>T (n.1402-10203A>T) c.2366A>T (p.Glu789Val) c.2546A>T (p.Glu849Val) c.2213A>T (p.Glu738Val) | |
7 | g.117592625del | CA2684619364 | CFTR | c.2458del (p.Ile820Ter) c.*2172del (n.*2172del) c.2275del (p.Ile759Ter) c.*758del (n.*758del) c.*2282del (n.*2282del) c.2032del (p.Ile678Ter) c.49del (p.Ile17Ter) c.108del c.1402-10201del (n.1402-10201del) c.2368del (p.Ile790Ter) c.2548del (p.Ile850Ter) c.2215del (p.Ile739Ter) | gnomAD v4 |
7 | g.117592624A>C | CA368981432 | CFTR | c.2457A>C (p.Glu819Asp) c.*2171A>C (n.*2171A>C) c.2274A>C (p.Glu758Asp) c.*757A>C (n.*757A>C) c.*2281A>C (n.*2281A>C) c.2031A>C (p.Glu677Asp) c.48A>C (p.Glu16Asp) c.107A>C c.1402-10202A>C (n.1402-10202A>C) c.2367A>C (p.Glu789Asp) c.2547A>C (p.Glu849Asp) c.2214A>C (p.Glu738Asp) | |
7 | g.117592624A>G | CA457448980 | CFTR | c.2457A>G (p.Glu819=) c.*2171A>G (n.*2171A>G) c.2274A>G (p.Glu758=) c.*757A>G (n.*757A>G) c.*2281A>G (n.*2281A>G) c.2031A>G (p.Glu677=) c.48A>G (p.Glu16=) c.107A>G c.1402-10202A>G (n.1402-10202A>G) c.2367A>G (p.Glu789=) c.2547A>G (p.Glu849=) c.2214A>G (p.Glu738=) | |
7 | g.117592624A>T | CA368981435 | CFTR | c.2457A>T (p.Glu819Asp) c.*2171A>T (n.*2171A>T) c.2274A>T (p.Glu758Asp) c.*757A>T (n.*757A>T) c.*2281A>T (n.*2281A>T) c.2031A>T (p.Glu677Asp) c.48A>T (p.Glu16Asp) c.107A>T c.1402-10202A>T (n.1402-10202A>T) c.2367A>T (p.Glu789Asp) c.2547A>T (p.Glu849Asp) c.2214A>T (p.Glu738Asp) | |
7 | g.117592625A= | CA1737395690 | CFTR | c.2458A= (p.Ile820=) c.*2172A= (n.*2172A=) c.2275A= (p.Ile759=) c.*758A= (n.*758A=) c.*2282A= (n.*2282A=) c.2032A= (p.Ile678=) c.49A= (p.Ile17=) c.108A= c.1402-10201A= (n.1402-10201A=) c.2368A= (p.Ile790=) c.2548A= (p.Ile850=) c.2215A= (p.Ile739=) | |
7 | g.117592625A>C | CA368981437 | CFTR | c.2458A>C (p.Ile820Leu) c.*2172A>C (n.*2172A>C) c.2275A>C (p.Ile759Leu) c.*758A>C (n.*758A>C) c.*2282A>C (n.*2282A>C) c.2032A>C (p.Ile678Leu) c.49A>C (p.Ile17Leu) c.108A>C c.1402-10201A>C (n.1402-10201A>C) c.2368A>C (p.Ile790Leu) c.2548A>C (p.Ile850Leu) c.2215A>C (p.Ile739Leu) | ClinVar |
7 | g.117592625A>G | CA368981438 | CFTR | c.2458A>G (p.Ile820Val) c.*2172A>G (n.*2172A>G) c.2275A>G (p.Ile759Val) c.*758A>G (n.*758A>G) c.*2282A>G (n.*2282A>G) c.2032A>G (p.Ile678Val) c.49A>G (p.Ile17Val) c.108A>G c.1402-10201A>G (n.1402-10201A>G) c.2368A>G (p.Ile790Val) c.2548A>G (p.Ile850Val) c.2215A>G (p.Ile739Val) | ClinVar |
7 | g.117592625A>T | CA368981439 | CFTR | c.2458A>T (p.Ile820Leu) c.*2172A>T (n.*2172A>T) c.2275A>T (p.Ile759Leu) c.*758A>T (n.*758A>T) c.*2282A>T (n.*2282A>T) c.2032A>T (p.Ile678Leu) c.49A>T (p.Ile17Leu) c.108A>T c.1402-10201A>T (n.1402-10201A>T) c.2368A>T (p.Ile790Leu) c.2548A>T (p.Ile850Leu) c.2215A>T (p.Ile739Leu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592626T>A | CA368981442 | CFTR | c.2459T>A (p.Ile820Lys) c.*2173T>A (n.*2173T>A) c.2276T>A (p.Ile759Lys) c.*759T>A (n.*759T>A) c.*2283T>A (n.*2283T>A) c.2033T>A (p.Ile678Lys) c.50T>A (p.Ile17Lys) c.109T>A c.1402-10200T>A (n.1402-10200T>A) c.2369T>A (p.Ile790Lys) c.2549T>A (p.Ile850Lys) c.2216T>A (p.Ile739Lys) | |
7 | g.117592626T>C | CA368981444 | CFTR | c.2459T>C (p.Ile820Thr) c.*2173T>C (n.*2173T>C) c.2276T>C (p.Ile759Thr) c.*759T>C (n.*759T>C) c.*2283T>C (n.*2283T>C) c.2033T>C (p.Ile678Thr) c.50T>C (p.Ile17Thr) c.109T>C c.1402-10200T>C (n.1402-10200T>C) c.2369T>C (p.Ile790Thr) c.2549T>C (p.Ile850Thr) c.2216T>C (p.Ile739Thr) | gnomAD v4 |
7 | g.117592626T>G | CA368981447 | CFTR | c.2459T>G (p.Ile820Arg) c.*2173T>G (n.*2173T>G) c.2276T>G (p.Ile759Arg) c.*759T>G (n.*759T>G) c.*2283T>G (n.*2283T>G) c.2033T>G (p.Ile678Arg) c.50T>G (p.Ile17Arg) c.109T>G c.1402-10200T>G (n.1402-10200T>G) c.2369T>G (p.Ile790Arg) c.2549T>G (p.Ile850Arg) c.2216T>G (p.Ile739Arg) | |
7 | g.117592627A= | CA1737395697 | CFTR | c.2460A= (p.Ile820=) c.*2174A= (n.*2174A=) c.2277A= (p.Ile759=) c.*760A= (n.*760A=) c.*2284A= (n.*2284A=) c.2034A= (p.Ile678=) c.51A= (p.Ile17=) c.110A= c.1402-10199A= (n.1402-10199A=) c.2370A= (p.Ile790=) c.2550A= (p.Ile850=) c.2217A= (p.Ile739=) | |
7 | g.117592627A>C | CA457448981 | CFTR | c.2460A>C (p.Ile820=) c.*2174A>C (n.*2174A>C) c.2277A>C (p.Ile759=) c.*760A>C (n.*760A>C) c.*2284A>C (n.*2284A>C) c.2034A>C (p.Ile678=) c.51A>C (p.Ile17=) c.110A>C c.1402-10199A>C (n.1402-10199A>C) c.2370A>C (p.Ile790=) c.2550A>C (p.Ile850=) c.2217A>C (p.Ile739=) | |
7 | g.117592627A>G | CA368981449 | CFTR | c.2460A>G (p.Ile820Met) c.*2174A>G (n.*2174A>G) c.2277A>G (p.Ile759Met) c.*760A>G (n.*760A>G) c.*2284A>G (n.*2284A>G) c.2034A>G (p.Ile678Met) c.51A>G (p.Ile17Met) c.110A>G c.1402-10199A>G (n.1402-10199A>G) c.2370A>G (p.Ile790Met) c.2550A>G (p.Ile850Met) c.2217A>G (p.Ile739Met) | gnomAD v4 |
7 | g.117592627A>T | CA4451184 | CFTR | c.2460A>T (p.Ile820=) c.*2174A>T (n.*2174A>T) c.2277A>T (p.Ile759=) c.*760A>T (n.*760A>T) c.*2284A>T (n.*2284A>T) c.2034A>T (p.Ile678=) c.51A>T (p.Ile17=) c.110A>T c.1402-10199A>T (n.1402-10199A>T) c.2370A>T (p.Ile790=) c.2550A>T (p.Ile850=) c.2217A>T (p.Ile739=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592628A= | CA1737395705 | CFTR | c.2461A= (p.Ser821=) c.*2175A= (n.*2175A=) c.2278A= (p.Ser760=) c.*761A= (n.*761A=) c.*2285A= (n.*2285A=) c.2035A= (p.Ser679=) c.52A= (p.Ser18=) c.111A= c.1402-10198A= (n.1402-10198A=) c.2371A= (p.Ser791=) c.2551A= (p.Ser851=) c.2218A= (p.Ser740=) | |
7 | g.117592628A>C | CA368981452 | CFTR | c.2461A>C (p.Ser821Arg) c.*2175A>C (n.*2175A>C) c.2278A>C (p.Ser760Arg) c.*761A>C (n.*761A>C) c.*2285A>C (n.*2285A>C) c.2035A>C (p.Ser679Arg) c.52A>C (p.Ser18Arg) c.111A>C c.1402-10198A>C (n.1402-10198A>C) c.2371A>C (p.Ser791Arg) c.2551A>C (p.Ser851Arg) c.2218A>C (p.Ser740Arg) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592628A>G | CA368981455 | CFTR | c.2461A>G (p.Ser821Gly) c.*2175A>G (n.*2175A>G) c.2278A>G (p.Ser760Gly) c.*761A>G (n.*761A>G) c.*2285A>G (n.*2285A>G) c.2035A>G (p.Ser679Gly) c.52A>G (p.Ser18Gly) c.111A>G c.1402-10198A>G (n.1402-10198A>G) c.2371A>G (p.Ser791Gly) c.2551A>G (p.Ser851Gly) c.2218A>G (p.Ser740Gly) | gnomAD v4 |
7 | g.117592628A>T | CA368981458 | CFTR | c.2461A>T (p.Ser821Cys) c.*2175A>T (n.*2175A>T) c.2278A>T (p.Ser760Cys) c.*761A>T (n.*761A>T) c.*2285A>T (n.*2285A>T) c.2035A>T (p.Ser679Cys) c.52A>T (p.Ser18Cys) c.111A>T c.1402-10198A>T (n.1402-10198A>T) c.2371A>T (p.Ser791Cys) c.2551A>T (p.Ser851Cys) c.2218A>T (p.Ser740Cys) | gnomAD v4 |
7 | g.117592628_117592630delinsAGT | CA1737395703 | CFTR | c.2461_2463delinsAGT (p.Ser821=) c.*2175_*2177delinsAGT (n.*2175_*2177delinsAGT) c.2278_2280delinsAGT (p.Ser760=) c.*761_*763delinsAGT (n.*761_*763delinsAGT) c.*2285_*2287delinsAGT (n.*2285_*2287delinsAGT) c.2035_2037delinsAGT (p.Ser679=) c.52_54delinsAGT (p.Ser18=) c.111_113delinsAGT c.1402-10198_1402-10196delinsAGT (n.1402-10198_1402-10196delinsAGT) c.2371_2373delinsAGT (p.Ser791=) c.2551_2553delinsAGT (p.Ser851=) c.2218_2220delinsAGT (p.Ser740=) | |
7 | g.117592629G>A | CA368981462 | CFTR | c.2462G>A (p.Ser821Asn) c.*2176G>A (n.*2176G>A) c.2279G>A (p.Ser760Asn) c.*762G>A (n.*762G>A) c.*2286G>A (n.*2286G>A) c.2036G>A (p.Ser679Asn) c.53G>A (p.Ser18Asn) c.112G>A c.1402-10197G>A (n.1402-10197G>A) c.2372G>A (p.Ser791Asn) c.2552G>A (p.Ser851Asn) c.2219G>A (p.Ser740Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592629G>C | CA368981465 | CFTR | c.2462G>C (p.Ser821Thr) c.*2176G>C (n.*2176G>C) c.2279G>C (p.Ser760Thr) c.*762G>C (n.*762G>C) c.*2286G>C (n.*2286G>C) c.2036G>C (p.Ser679Thr) c.53G>C (p.Ser18Thr) c.112G>C c.1402-10197G>C (n.1402-10197G>C) c.2372G>C (p.Ser791Thr) c.2552G>C (p.Ser851Thr) c.2219G>C (p.Ser740Thr) | |
7 | g.117592629G= | CA1737395710 | CFTR | c.2462G= (p.Ser821=) c.*2176G= (n.*2176G=) c.2279G= (p.Ser760=) c.*762G= (n.*762G=) c.*2286G= (n.*2286G=) c.2036G= (p.Ser679=) c.53G= (p.Ser18=) c.112G= c.1402-10197G= (n.1402-10197G=) c.2372G= (p.Ser791=) c.2552G= (p.Ser851=) c.2219G= (p.Ser740=) | |
7 | g.117592629G>T | CA368981469 | CFTR | c.2462G>T (p.Ser821Ile) c.*2176G>T (n.*2176G>T) c.2279G>T (p.Ser760Ile) c.*762G>T (n.*762G>T) c.*2286G>T (n.*2286G>T) c.2036G>T (p.Ser679Ile) c.53G>T (p.Ser18Ile) c.112G>T c.1402-10197G>T (n.1402-10197G>T) c.2372G>T (p.Ser791Ile) c.2552G>T (p.Ser851Ile) c.2219G>T (p.Ser740Ile) | |
7 | g.117592630_117592631del | CA276108 | CFTR | c.2463_2464del (p.Ser821ArgfsTer4) c.*2177_*2178del (n.*2177_*2178del) c.2280_2281del (p.Ser760ArgfsTer4) c.*763_*764del (n.*763_*764del) c.*2287_*2288del (n.*2287_*2288del) c.2037_2038del (p.Ser679ArgfsTer4) c.54_55del (p.Ser18ArgfsTer4) c.113_114del c.1402-10196_1402-10195del (n.1402-10196_1402-10195del) c.2373_2374del (p.Ser791ArgfsTer4) c.2553_2554del (p.Ser851ArgfsTer4) c.2220_2221del (p.Ser740ArgfsTer4) | ClinVar dbSNP gnomAD v4 |
7 | g.117592630T>A | CA368981475 | CFTR | c.2463T>A (p.Ser821Arg) c.*2177T>A (n.*2177T>A) c.2280T>A (p.Ser760Arg) c.*763T>A (n.*763T>A) c.*2287T>A (n.*2287T>A) c.2037T>A (p.Ser679Arg) c.54T>A (p.Ser18Arg) c.113T>A c.1402-10196T>A (n.1402-10196T>A) c.2373T>A (p.Ser791Arg) c.2553T>A (p.Ser851Arg) c.2220T>A (p.Ser740Arg) | gnomAD v4 |
7 | g.117592630T>C | CA457448982 | CFTR | c.2463T>C (p.Ser821=) c.*2177T>C (n.*2177T>C) c.2280T>C (p.Ser760=) c.*763T>C (n.*763T>C) c.*2287T>C (n.*2287T>C) c.2037T>C (p.Ser679=) c.54T>C (p.Ser18=) c.113T>C c.1402-10196T>C (n.1402-10196T>C) c.2373T>C (p.Ser791=) c.2553T>C (p.Ser851=) c.2220T>C (p.Ser740=) | |
7 | g.117592630T>G | CA368981479 | CFTR | c.2463T>G (p.Ser821Arg) c.*2177T>G (n.*2177T>G) c.2280T>G (p.Ser760Arg) c.*763T>G (n.*763T>G) c.*2287T>G (n.*2287T>G) c.2037T>G (p.Ser679Arg) c.54T>G (p.Ser18Arg) c.113T>G c.1402-10196T>G (n.1402-10196T>G) c.2373T>G (p.Ser791Arg) c.2553T>G (p.Ser851Arg) c.2220T>G (p.Ser740Arg) | |
7 | g.117592631G>A | CA326820 | CFTR | c.2464G>A (p.Glu822Lys) c.*2178G>A (n.*2178G>A) c.2281G>A (p.Glu761Lys) c.*764G>A (n.*764G>A) c.*2288G>A (n.*2288G>A) c.2038G>A (p.Glu680Lys) c.55G>A (p.Glu19Lys) c.114G>A c.1402-10195G>A (n.1402-10195G>A) c.2374G>A (p.Glu792Lys) c.2554G>A (p.Glu852Lys) c.2221G>A (p.Glu741Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
7 | g.117592631G>C | CA368981487 | CFTR | c.2464G>C (p.Glu822Gln) c.*2178G>C (n.*2178G>C) c.2281G>C (p.Glu761Gln) c.*764G>C (n.*764G>C) c.*2288G>C (n.*2288G>C) c.2038G>C (p.Glu680Gln) c.55G>C (p.Glu19Gln) c.114G>C c.1402-10195G>C (n.1402-10195G>C) c.2374G>C (p.Glu792Gln) c.2554G>C (p.Glu852Gln) c.2221G>C (p.Glu741Gln) | |
7 | g.117592631G= | CA1737395716 | CFTR | c.2464G= (p.Glu822=) c.*2178G= (n.*2178G=) c.2281G= (p.Glu761=) c.*764G= (n.*764G=) c.*2288G= (n.*2288G=) c.2038G= (p.Glu680=) c.55G= (p.Glu19=) c.114G= c.1402-10195G= (n.1402-10195G=) c.2374G= (p.Glu792=) c.2554G= (p.Glu852=) c.2221G= (p.Glu741=) | |
7 | g.117592631G>T | CA328102 | CFTR | c.2464G>T (p.Glu822Ter) c.*2178G>T (n.*2178G>T) c.2281G>T (p.Glu761Ter) c.*764G>T (n.*764G>T) c.*2288G>T (n.*2288G>T) c.2038G>T (p.Glu680Ter) c.55G>T (p.Glu19Ter) c.114G>T c.1402-10195G>T (n.1402-10195G>T) c.2374G>T (p.Glu792Ter) c.2554G>T (p.Glu852Ter) c.2221G>T (p.Glu741Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592634_117592636del | CA2684619365 | CFTR | c.2467_2469del (p.Glu823del) c.*2181_*2183del (n.*2181_*2183del) c.2284_2286del (p.Glu762del) c.*767_*769del (n.*767_*769del) c.*2291_*2293del (n.*2291_*2293del) c.2041_2043del (p.Glu681del) c.58_60del (p.Glu20del) c.117_119del c.1402-10192_1402-10190del (n.1402-10192_1402-10190del) c.2377_2379del (p.Glu793del) c.2557_2559del (p.Glu853del) c.2224_2226del (p.Glu742del) | gnomAD v4 |
7 | g.117592632A>C | CA368981493 | CFTR | c.2465A>C (p.Glu822Ala) c.*2179A>C (n.*2179A>C) c.2282A>C (p.Glu761Ala) c.*765A>C (n.*765A>C) c.*2289A>C (n.*2289A>C) c.2039A>C (p.Glu680Ala) c.56A>C (p.Glu19Ala) c.115A>C c.1402-10194A>C (n.1402-10194A>C) c.2375A>C (p.Glu792Ala) c.2555A>C (p.Glu852Ala) c.2222A>C (p.Glu741Ala) | |
7 | g.117592632A>G | CA368981499 | CFTR | c.2465A>G (p.Glu822Gly) c.*2179A>G (n.*2179A>G) c.2282A>G (p.Glu761Gly) c.*765A>G (n.*765A>G) c.*2289A>G (n.*2289A>G) c.2039A>G (p.Glu680Gly) c.56A>G (p.Glu19Gly) c.115A>G c.1402-10194A>G (n.1402-10194A>G) c.2375A>G (p.Glu792Gly) c.2555A>G (p.Glu852Gly) c.2222A>G (p.Glu741Gly) | |
7 | g.117592632A>T | CA368981495 | CFTR | c.2465A>T (p.Glu822Val) c.*2179A>T (n.*2179A>T) c.2282A>T (p.Glu761Val) c.*765A>T (n.*765A>T) c.*2289A>T (n.*2289A>T) c.2039A>T (p.Glu680Val) c.56A>T (p.Glu19Val) c.115A>T c.1402-10194A>T (n.1402-10194A>T) c.2375A>T (p.Glu792Val) c.2555A>T (p.Glu852Val) c.2222A>T (p.Glu741Val) | |
7 | g.117592633A>C | CA368981502 | CFTR | c.2466A>C (p.Glu822Asp) c.*2180A>C (n.*2180A>C) c.2283A>C (p.Glu761Asp) c.*766A>C (n.*766A>C) c.*2290A>C (n.*2290A>C) c.2040A>C (p.Glu680Asp) c.57A>C (p.Glu19Asp) c.116A>C c.1402-10193A>C (n.1402-10193A>C) c.2376A>C (p.Glu792Asp) c.2556A>C (p.Glu852Asp) c.2223A>C (p.Glu741Asp) | |
7 | g.117592633A>G | CA457448983 | CFTR | c.2466A>G (p.Glu822=) c.*2180A>G (n.*2180A>G) c.2283A>G (p.Glu761=) c.*766A>G (n.*766A>G) c.*2290A>G (n.*2290A>G) c.2040A>G (p.Glu680=) c.57A>G (p.Glu19=) c.116A>G c.1402-10193A>G (n.1402-10193A>G) c.2376A>G (p.Glu792=) c.2556A>G (p.Glu852=) c.2223A>G (p.Glu741=) | gnomAD v4 |
7 | g.117592633A>T | CA368981505 | CFTR | c.2466A>T (p.Glu822Asp) c.*2180A>T (n.*2180A>T) c.2283A>T (p.Glu761Asp) c.*766A>T (n.*766A>T) c.*2290A>T (n.*2290A>T) c.2040A>T (p.Glu680Asp) c.57A>T (p.Glu19Asp) c.116A>T c.1402-10193A>T (n.1402-10193A>T) c.2376A>T (p.Glu792Asp) c.2556A>T (p.Glu852Asp) c.2223A>T (p.Glu741Asp) | |
7 | g.117592634G>A | CA368981510 | CFTR | c.2467G>A (p.Glu823Lys) c.*2181G>A (n.*2181G>A) c.2284G>A (p.Glu762Lys) c.*767G>A (n.*767G>A) c.*2291G>A (n.*2291G>A) c.2041G>A (p.Glu681Lys) c.58G>A (p.Glu20Lys) c.117G>A c.1402-10192G>A (n.1402-10192G>A) c.2377G>A (p.Glu793Lys) c.2557G>A (p.Glu853Lys) c.2224G>A (p.Glu742Lys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592634G>C | CA368981512 | CFTR | c.2467G>C (p.Glu823Gln) c.*2181G>C (n.*2181G>C) c.2284G>C (p.Glu762Gln) c.*767G>C (n.*767G>C) c.*2291G>C (n.*2291G>C) c.2041G>C (p.Glu681Gln) c.58G>C (p.Glu20Gln) c.117G>C c.1402-10192G>C (n.1402-10192G>C) c.2377G>C (p.Glu793Gln) c.2557G>C (p.Glu853Gln) c.2224G>C (p.Glu742Gln) | |
7 | g.117592634G= | CA1737395721 | CFTR | c.2467G= (p.Glu823=) c.*2181G= (n.*2181G=) c.2284G= (p.Glu762=) c.*767G= (n.*767G=) c.*2291G= (n.*2291G=) c.2041G= (p.Glu681=) c.58G= (p.Glu20=) c.117G= c.1402-10192G= (n.1402-10192G=) c.2377G= (p.Glu793=) c.2557G= (p.Glu853=) c.2224G= (p.Glu742=) | |
7 | g.117592634G>T | CA326821 | CFTR | c.2467G>T (p.Glu823Ter) c.*2181G>T (n.*2181G>T) c.2284G>T (p.Glu762Ter) c.*767G>T (n.*767G>T) c.*2291G>T (n.*2291G>T) c.2041G>T (p.Glu681Ter) c.58G>T (p.Glu20Ter) c.117G>T c.1402-10192G>T (n.1402-10192G>T) c.2377G>T (p.Glu793Ter) c.2557G>T (p.Glu853Ter) c.2224G>T (p.Glu742Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
7 | g.117592635A>C | CA368981519 | CFTR | c.2468A>C (p.Glu823Ala) c.*2182A>C (n.*2182A>C) c.2285A>C (p.Glu762Ala) c.*768A>C (n.*768A>C) c.*2292A>C (n.*2292A>C) c.2042A>C (p.Glu681Ala) c.59A>C (p.Glu20Ala) c.118A>C c.1402-10191A>C (n.1402-10191A>C) c.2378A>C (p.Glu793Ala) c.2558A>C (p.Glu853Ala) c.2225A>C (p.Glu742Ala) | |
7 | g.117592635A>G | CA368981523 | CFTR | c.2468A>G (p.Glu823Gly) c.*2182A>G (n.*2182A>G) c.2285A>G (p.Glu762Gly) c.*768A>G (n.*768A>G) c.*2292A>G (n.*2292A>G) c.2042A>G (p.Glu681Gly) c.59A>G (p.Glu20Gly) c.118A>G c.1402-10191A>G (n.1402-10191A>G) c.2378A>G (p.Glu793Gly) c.2558A>G (p.Glu853Gly) c.2225A>G (p.Glu742Gly) | |
7 | g.117592635A>T | CA368981527 | CFTR | c.2468A>T (p.Glu823Val) c.*2182A>T (n.*2182A>T) c.2285A>T (p.Glu762Val) c.*768A>T (n.*768A>T) c.*2292A>T (n.*2292A>T) c.2042A>T (p.Glu681Val) c.59A>T (p.Glu20Val) c.118A>T c.1402-10191A>T (n.1402-10191A>T) c.2378A>T (p.Glu793Val) c.2558A>T (p.Glu853Val) c.2225A>T (p.Glu742Val) | |
7 | g.117592636A= | CA1737395724 | CFTR | c.2469A= (p.Glu823=) c.*2183A= (n.*2183A=) c.2286A= (p.Glu762=) c.*769A= (n.*769A=) c.*2293A= (n.*2293A=) c.2043A= (p.Glu681=) c.60A= (p.Glu20=) c.119A= c.1402-10190A= (n.1402-10190A=) c.2379A= (p.Glu793=) c.2559A= (p.Glu853=) c.2226A= (p.Glu742=) | |
7 | g.117592636A>C | CA368981532 | CFTR | c.2469A>C (p.Glu823Asp) c.*2183A>C (n.*2183A>C) c.2286A>C (p.Glu762Asp) c.*769A>C (n.*769A>C) c.*2293A>C (n.*2293A>C) c.2043A>C (p.Glu681Asp) c.60A>C (p.Glu20Asp) c.119A>C c.1402-10190A>C (n.1402-10190A>C) c.2379A>C (p.Glu793Asp) c.2559A>C (p.Glu853Asp) c.2226A>C (p.Glu742Asp) | |
7 | g.117592636A>G | CA457448984 | CFTR | c.2469A>G (p.Glu823=) c.*2183A>G (n.*2183A>G) c.2286A>G (p.Glu762=) c.*769A>G (n.*769A>G) c.*2293A>G (n.*2293A>G) c.2043A>G (p.Glu681=) c.60A>G (p.Glu20=) c.119A>G c.1402-10190A>G (n.1402-10190A>G) c.2379A>G (p.Glu793=) c.2559A>G (p.Glu853=) c.2226A>G (p.Glu742=) | |
7 | g.117592636A>T | CA4451185 | CFTR | c.2469A>T (p.Glu823Asp) c.*2183A>T (n.*2183A>T) c.2286A>T (p.Glu762Asp) c.*769A>T (n.*769A>T) c.*2293A>T (n.*2293A>T) c.2043A>T (p.Glu681Asp) c.60A>T (p.Glu20Asp) c.119A>T c.1402-10190A>T (n.1402-10190A>T) c.2379A>T (p.Glu793Asp) c.2559A>T (p.Glu853Asp) c.2226A>T (p.Glu742Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592637A>C | CA368981540 | CFTR | c.2470A>C (p.Ile824Leu) c.*2184A>C (n.*2184A>C) c.2287A>C (p.Ile763Leu) c.*770A>C (n.*770A>C) c.*2294A>C (n.*2294A>C) c.2044A>C (p.Ile682Leu) c.61A>C (p.Ile21Leu) c.120A>C c.1402-10189A>C (n.1402-10189A>C) c.2380A>C (p.Ile794Leu) c.2560A>C (p.Ile854Leu) c.2227A>C (p.Ile743Leu) | |
7 | g.117592637A>G | CA368981543 | CFTR | c.2470A>G (p.Ile824Val) c.*2184A>G (n.*2184A>G) c.2287A>G (p.Ile763Val) c.*770A>G (n.*770A>G) c.*2294A>G (n.*2294A>G) c.2044A>G (p.Ile682Val) c.61A>G (p.Ile21Val) c.120A>G c.1402-10189A>G (n.1402-10189A>G) c.2380A>G (p.Ile794Val) c.2560A>G (p.Ile854Val) c.2227A>G (p.Ile743Val) | ClinVar gnomAD v4 |
7 | g.117592637A>T | CA368981552 | CFTR | c.2470A>T (p.Ile824Phe) c.*2184A>T (n.*2184A>T) c.2287A>T (p.Ile763Phe) c.*770A>T (n.*770A>T) c.*2294A>T (n.*2294A>T) c.2044A>T (p.Ile682Phe) c.61A>T (p.Ile21Phe) c.120A>T c.1402-10189A>T (n.1402-10189A>T) c.2380A>T (p.Ile794Phe) c.2560A>T (p.Ile854Phe) c.2227A>T (p.Ile743Phe) | |
7 | g.117592637_117592638delinsAT | CA1737395728 | CFTR | c.2470_2471delinsAT (p.Ile824=) c.*2184_*2185delinsAT (n.*2184_*2185delinsAT) c.2287_2288delinsAT (p.Ile763=) c.*770_*771delinsAT (n.*770_*771delinsAT) c.*2294_*2295delinsAT (n.*2294_*2295delinsAT) c.2044_2045delinsAT (p.Ile682=) c.61_62delinsAT (p.Ile21=) c.120_121delinsAT c.1402-10189_1402-10188delinsAT (n.1402-10189_1402-10188delinsAT) c.2380_2381delinsAT (p.Ile794=) c.2560_2561delinsAT (p.Ile854=) c.2227_2228delinsAT (p.Ile743=) | |
7 | g.117592638T>A | CA368981565 | CFTR | c.2471T>A (p.Ile824Asn) c.*2185T>A (n.*2185T>A) c.2288T>A (p.Ile763Asn) c.*771T>A (n.*771T>A) c.*2295T>A (n.*2295T>A) c.2045T>A (p.Ile682Asn) c.62T>A (p.Ile21Asn) c.121T>A c.1402-10188T>A (n.1402-10188T>A) c.2381T>A (p.Ile794Asn) c.2561T>A (p.Ile854Asn) c.2228T>A (p.Ile743Asn) | |
7 | g.117592638T>C | CA368981558 | CFTR | c.2471T>C (p.Ile824Thr) c.*2185T>C (n.*2185T>C) c.2288T>C (p.Ile763Thr) c.*771T>C (n.*771T>C) c.*2295T>C (n.*2295T>C) c.2045T>C (p.Ile682Thr) c.62T>C (p.Ile21Thr) c.121T>C c.1402-10188T>C (n.1402-10188T>C) c.2381T>C (p.Ile794Thr) c.2561T>C (p.Ile854Thr) c.2228T>C (p.Ile743Thr) | |
7 | g.117592638T>G | CA368981562 | CFTR | c.2471T>G (p.Ile824Ser) c.*2185T>G (n.*2185T>G) c.2288T>G (p.Ile763Ser) c.*771T>G (n.*771T>G) c.*2295T>G (n.*2295T>G) c.2045T>G (p.Ile682Ser) c.62T>G (p.Ile21Ser) c.121T>G c.1402-10188T>G (n.1402-10188T>G) c.2381T>G (p.Ile794Ser) c.2561T>G (p.Ile854Ser) c.2228T>G (p.Ile743Ser) | |
7 | g.117592639dup | CA913111881 | CFTR | c.2472dup (p.Asn825Ter) c.*2186dup (n.*2186dup) c.2289dup (p.Asn764Ter) c.*772dup (n.*772dup) c.*2296dup (n.*2296dup) c.2046dup (p.Asn683Ter) c.63dup (p.Asn22Ter) c.122dup c.1402-10187dup (n.1402-10187dup) c.2382dup (p.Asn795Ter) c.2562dup (p.Asn855Ter) c.2229dup (p.Asn744Ter) | |
7 | g.117592639del | CA326823 | CFTR | c.2472del (p.Asn825ThrfsTer5) c.*2186del (n.*2186del) c.2289del (p.Asn764ThrfsTer5) c.*772del (n.*772del) c.*2296del (n.*2296del) c.2046del (p.Asn683ThrfsTer5) c.63del (p.Asn22ThrfsTer5) c.122del c.1402-10187del (n.1402-10187del) c.2382del (p.Asn795ThrfsTer5) c.2562del (p.Asn855ThrfsTer5) c.2229del (p.Asn744ThrfsTer5) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592639T>A | CA457448985 | CFTR | c.2472T>A (p.Ile824=) c.*2186T>A (n.*2186T>A) c.2289T>A (p.Ile763=) c.*772T>A (n.*772T>A) c.*2296T>A (n.*2296T>A) c.2046T>A (p.Ile682=) c.63T>A (p.Ile21=) c.122T>A c.1402-10187T>A (n.1402-10187T>A) c.2382T>A (p.Ile794=) c.2562T>A (p.Ile854=) c.2229T>A (p.Ile743=) | ClinVar |
7 | g.117592639T>C | CA457448986 | CFTR | c.2472T>C (p.Ile824=) c.*2186T>C (n.*2186T>C) c.2289T>C (p.Ile763=) c.*772T>C (n.*772T>C) c.*2296T>C (n.*2296T>C) c.2046T>C (p.Ile682=) c.63T>C (p.Ile21=) c.122T>C c.1402-10187T>C (n.1402-10187T>C) c.2382T>C (p.Ile794=) c.2562T>C (p.Ile854=) c.2229T>C (p.Ile743=) | ClinVar dbSNP gnomAD v4 |
7 | g.117592639T>G | CA368981570 | CFTR | c.2472T>G (p.Ile824Met) c.*2186T>G (n.*2186T>G) c.2289T>G (p.Ile763Met) c.*772T>G (n.*772T>G) c.*2296T>G (n.*2296T>G) c.2046T>G (p.Ile682Met) c.63T>G (p.Ile21Met) c.122T>G c.1402-10187T>G (n.1402-10187T>G) c.2382T>G (p.Ile794Met) c.2562T>G (p.Ile854Met) c.2229T>G (p.Ile743Met) | ClinVar |
7 | g.117592639T= | CA1737395736 | CFTR | c.2472T= (p.Ile824=) c.*2186T= (n.*2186T=) c.2289T= (p.Ile763=) c.*772T= (n.*772T=) c.*2296T= (n.*2296T=) c.2046T= (p.Ile682=) c.63T= (p.Ile21=) c.122T= c.1402-10187T= (n.1402-10187T=) c.2382T= (p.Ile794=) c.2562T= (p.Ile854=) c.2229T= (p.Ile743=) | |
7 | g.117592640A>C | CA368981573 | CFTR | c.2473A>C (p.Asn825His) c.*2187A>C (n.*2187A>C) c.2290A>C (p.Asn764His) c.*773A>C (n.*773A>C) c.*2297A>C (n.*2297A>C) c.2047A>C (p.Asn683His) c.64A>C (p.Asn22His) c.123A>C c.1402-10186A>C (n.1402-10186A>C) c.2383A>C (p.Asn795His) c.2563A>C (p.Asn855His) c.2230A>C (p.Asn744His) | |
7 | g.117592640A>G | CA368981574 | CFTR | c.2473A>G (p.Asn825Asp) c.*2187A>G (n.*2187A>G) c.2290A>G (p.Asn764Asp) c.*773A>G (n.*773A>G) c.*2297A>G (n.*2297A>G) c.2047A>G (p.Asn683Asp) c.64A>G (p.Asn22Asp) c.123A>G c.1402-10186A>G (n.1402-10186A>G) c.2383A>G (p.Asn795Asp) c.2563A>G (p.Asn855Asp) c.2230A>G (p.Asn744Asp) | gnomAD v4 |
7 | g.117592640A>T | CA368981575 | CFTR | c.2473A>T (p.Asn825Tyr) c.*2187A>T (n.*2187A>T) c.2290A>T (p.Asn764Tyr) c.*773A>T (n.*773A>T) c.*2297A>T (n.*2297A>T) c.2047A>T (p.Asn683Tyr) c.64A>T (p.Asn22Tyr) c.123A>T c.1402-10186A>T (n.1402-10186A>T) c.2383A>T (p.Asn795Tyr) c.2563A>T (p.Asn855Tyr) c.2230A>T (p.Asn744Tyr) | |
7 | g.117592642_117592645dup | CA658822501 | CFTR | c.2475_2478dup (p.Glu827ArgfsTer10) c.*2189_*2192dup (n.*2189_*2192dup) c.2292_2295dup (p.Glu766ArgfsTer10) c.*775_*778dup (n.*775_*778dup) c.*2299_*2302dup (n.*2299_*2302dup) c.2049_2052dup (p.Glu685ArgfsTer10) c.66_69dup (p.Glu24ArgfsTer10) c.125_128dup c.1402-10184_1402-10181dup (n.1402-10184_1402-10181dup) c.2385_2388dup (p.Glu797ArgfsTer10) c.2565_2568dup (p.Glu857ArgfsTer10) c.2232_2235dup (p.Glu746ArgfsTer10) | ClinVar dbSNP |
7 | g.117592641A= | CA1737395744 | CFTR | c.2474A= (p.Asn825=) c.*2188A= (n.*2188A=) c.2291A= (p.Asn764=) c.*774A= (n.*774A=) c.*2298A= (n.*2298A=) c.2048A= (p.Asn683=) c.65A= (p.Asn22=) c.124A= c.1402-10185A= (n.1402-10185A=) c.2384A= (p.Asn795=) c.2564A= (p.Asn855=) c.2231A= (p.Asn744=) | |
7 | g.117592641A>C | CA368981577 | CFTR | c.2474A>C (p.Asn825Thr) c.*2188A>C (n.*2188A>C) c.2291A>C (p.Asn764Thr) c.*774A>C (n.*774A>C) c.*2298A>C (n.*2298A>C) c.2048A>C (p.Asn683Thr) c.65A>C (p.Asn22Thr) c.124A>C c.1402-10185A>C (n.1402-10185A>C) c.2384A>C (p.Asn795Thr) c.2564A>C (p.Asn855Thr) c.2231A>C (p.Asn744Thr) | |
7 | g.117592641A>G | CA368981579 | CFTR | c.2474A>G (p.Asn825Ser) c.*2188A>G (n.*2188A>G) c.2291A>G (p.Asn764Ser) c.*774A>G (n.*774A>G) c.*2298A>G (n.*2298A>G) c.2048A>G (p.Asn683Ser) c.65A>G (p.Asn22Ser) c.124A>G c.1402-10185A>G (n.1402-10185A>G) c.2384A>G (p.Asn795Ser) c.2564A>G (p.Asn855Ser) c.2231A>G (p.Asn744Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592641A>T | CA368981583 | CFTR | c.2474A>T (p.Asn825Ile) c.*2188A>T (n.*2188A>T) c.2291A>T (p.Asn764Ile) c.*774A>T (n.*774A>T) c.*2298A>T (n.*2298A>T) c.2048A>T (p.Asn683Ile) c.65A>T (p.Asn22Ile) c.124A>T c.1402-10185A>T (n.1402-10185A>T) c.2384A>T (p.Asn795Ile) c.2564A>T (p.Asn855Ile) c.2231A>T (p.Asn744Ile) |