| 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.117592531A>C | CA457449871 | CFTR | c.2364A>C (p.Thr788=) c.*2078A>C (n.*2078A>C) c.2181A>C (p.Thr727=) c.*664A>C (n.*664A>C) c.*2188A>C (n.*2188A>C) c.1938A>C (p.Thr646=) c.14A>C c.1402-10295A>C (n.1402-10295A>C) c.2274A>C (p.Thr758=) c.2454A>C (p.Thr818=) c.2121A>C (p.Thr707=) | |
| 7 | g.117592531A>G | CA457449870 | CFTR | c.2364A>G (p.Thr788=) c.*2078A>G (n.*2078A>G) c.2181A>G (p.Thr727=) c.*664A>G (n.*664A>G) c.*2188A>G (n.*2188A>G) c.1938A>G (p.Thr646=) c.14A>G c.1402-10295A>G (n.1402-10295A>G) c.2274A>G (p.Thr758=) c.2454A>G (p.Thr818=) c.2121A>G (p.Thr707=) | gnomAD v4 |
| 7 | g.117592531A>T | CA457449869 | CFTR | c.2364A>T (p.Thr788=) c.*2078A>T (n.*2078A>T) c.2181A>T (p.Thr727=) c.*664A>T (n.*664A>T) c.*2188A>T (n.*2188A>T) c.1938A>T (p.Thr646=) c.14A>T c.1402-10295A>T (n.1402-10295A>T) c.2274A>T (p.Thr758=) c.2454A>T (p.Thr818=) c.2121A>T (p.Thr707=) | |
| 7 | g.117592532G>A | CA368981062 | CFTR | c.2365G>A (p.Ala789Thr) c.*2079G>A (n.*2079G>A) c.2182G>A (p.Ala728Thr) c.*665G>A (n.*665G>A) c.*2189G>A (n.*2189G>A) c.1939G>A (p.Ala647Thr) c.15G>A c.1402-10294G>A (n.1402-10294G>A) c.2275G>A (p.Ala759Thr) c.2455G>A (p.Ala819Thr) c.2122G>A (p.Ala708Thr) | dbSNP |
| 7 | g.117592532G>C | CA368981063 | CFTR | c.2365G>C (p.Ala789Pro) c.*2079G>C (n.*2079G>C) c.2182G>C (p.Ala728Pro) c.*665G>C (n.*665G>C) c.*2189G>C (n.*2189G>C) c.1939G>C (p.Ala647Pro) c.15G>C c.1402-10294G>C (n.1402-10294G>C) c.2275G>C (p.Ala759Pro) c.2455G>C (p.Ala819Pro) c.2122G>C (p.Ala708Pro) | |
| 7 | g.117592532G= | CA1737395334 | CFTR | c.2365G= (p.Ala789=) c.*2079G= (n.*2079G=) c.2182G= (p.Ala728=) c.*665G= (n.*665G=) c.*2189G= (n.*2189G=) c.1939G= (p.Ala647=) c.15G= c.1402-10294G= (n.1402-10294G=) c.2275G= (p.Ala759=) c.2455G= (p.Ala819=) c.2122G= (p.Ala708=) | |
| 7 | g.117592532G>T | CA368981064 | CFTR | c.2365G>T (p.Ala789Ser) c.*2079G>T (n.*2079G>T) c.2182G>T (p.Ala728Ser) c.*665G>T (n.*665G>T) c.*2189G>T (n.*2189G>T) c.1939G>T (p.Ala647Ser) c.15G>T c.1402-10294G>T (n.1402-10294G>T) c.2275G>T (p.Ala759Ser) c.2455G>T (p.Ala819Ser) c.2122G>T (p.Ala708Ser) | COSMIC |
| 7 | g.117592533C>A | CA368981065 | CFTR | c.2366C>A (p.Ala789Glu) c.*2080C>A (n.*2080C>A) c.2183C>A (p.Ala728Glu) c.*666C>A (n.*666C>A) c.*2190C>A (n.*2190C>A) c.1940C>A (p.Ala647Glu) c.16C>A c.1402-10293C>A (n.1402-10293C>A) c.2276C>A (p.Ala759Glu) c.2456C>A (p.Ala819Glu) c.2123C>A (p.Ala708Glu) | gnomAD v4 |
| 7 | g.117592533C>G | CA368981066 | CFTR | c.2366C>G (p.Ala789Gly) c.*2080C>G (n.*2080C>G) c.2183C>G (p.Ala728Gly) c.*666C>G (n.*666C>G) c.*2190C>G (n.*2190C>G) c.1940C>G (p.Ala647Gly) c.16C>G c.1402-10293C>G (n.1402-10293C>G) c.2276C>G (p.Ala759Gly) c.2456C>G (p.Ala819Gly) c.2123C>G (p.Ala708Gly) | |
| 7 | g.117592533C>T | CA368981067 | CFTR | c.2366C>T (p.Ala789Val) c.*2080C>T (n.*2080C>T) c.2183C>T (p.Ala728Val) c.*666C>T (n.*666C>T) c.*2190C>T (n.*2190C>T) c.1940C>T (p.Ala647Val) c.16C>T c.1402-10293C>T (n.1402-10293C>T) c.2276C>T (p.Ala759Val) c.2456C>T (p.Ala819Val) c.2123C>T (p.Ala708Val) | gnomAD v4 |
| 7 | g.117592534A>C | CA457449880 | CFTR | c.2367A>C (p.Ala789=) c.*2081A>C (n.*2081A>C) c.2184A>C (p.Ala728=) c.*667A>C (n.*667A>C) c.*2191A>C (n.*2191A>C) c.1941A>C (p.Ala647=) c.17A>C c.1402-10292A>C (n.1402-10292A>C) c.2277A>C (p.Ala759=) c.2457A>C (p.Ala819=) c.2124A>C (p.Ala708=) | |
| 7 | g.117592534A>G | CA457449881 | CFTR | c.2367A>G (p.Ala789=) c.*2081A>G (n.*2081A>G) c.2184A>G (p.Ala728=) c.*667A>G (n.*667A>G) c.*2191A>G (n.*2191A>G) c.1941A>G (p.Ala647=) c.17A>G c.1402-10292A>G (n.1402-10292A>G) c.2277A>G (p.Ala759=) c.2457A>G (p.Ala819=) c.2124A>G (p.Ala708=) | |
| 7 | g.117592534A>T | CA457449882 | CFTR | c.2367A>T (p.Ala789=) c.*2081A>T (n.*2081A>T) c.2184A>T (p.Ala728=) c.*667A>T (n.*667A>T) c.*2191A>T (n.*2191A>T) c.1941A>T (p.Ala647=) c.17A>T c.1402-10292A>T (n.1402-10292A>T) c.2277A>T (p.Ala759=) c.2457A>T (p.Ala819=) c.2124A>T (p.Ala708=) | |
| 7 | g.117592535T>A | CA368981068 | CFTR | c.2368T>A (p.Ser790Thr) c.*2082T>A (n.*2082T>A) c.2185T>A (p.Ser729Thr) c.*668T>A (n.*668T>A) c.*2192T>A (n.*2192T>A) c.1942T>A (p.Ser648Thr) c.18T>A c.1402-10291T>A (n.1402-10291T>A) c.2278T>A (p.Ser760Thr) c.2458T>A (p.Ser820Thr) c.2125T>A (p.Ser709Thr) | |
| 7 | g.117592535T>C | CA368981069 | CFTR | c.2368T>C (p.Ser790Pro) c.*2082T>C (n.*2082T>C) c.2185T>C (p.Ser729Pro) c.*668T>C (n.*668T>C) c.*2192T>C (n.*2192T>C) c.1942T>C (p.Ser648Pro) c.18T>C c.1402-10291T>C (n.1402-10291T>C) c.2278T>C (p.Ser760Pro) c.2458T>C (p.Ser820Pro) c.2125T>C (p.Ser709Pro) | |
| 7 | g.117592535T>G | CA368981070 | CFTR | c.2368T>G (p.Ser790Ala) c.*2082T>G (n.*2082T>G) c.2185T>G (p.Ser729Ala) c.*668T>G (n.*668T>G) c.*2192T>G (n.*2192T>G) c.1942T>G (p.Ser648Ala) c.18T>G c.1402-10291T>G (n.1402-10291T>G) c.2278T>G (p.Ser760Ala) c.2458T>G (p.Ser820Ala) c.2125T>G (p.Ser709Ala) | |
| 7 | g.117592536C>A | CA368981071 | CFTR | c.2369C>A (p.Ser790Tyr) c.*2083C>A (n.*2083C>A) c.2186C>A (p.Ser729Tyr) c.*669C>A (n.*669C>A) c.*2193C>A (n.*2193C>A) c.1943C>A (p.Ser648Tyr) c.19C>A c.1402-10290C>A (n.1402-10290C>A) c.2279C>A (p.Ser760Tyr) c.2459C>A (p.Ser820Tyr) c.2126C>A (p.Ser709Tyr) | |
| 7 | g.117592536C>G | CA368981072 | CFTR | c.2369C>G (p.Ser790Cys) c.*2083C>G (n.*2083C>G) c.2186C>G (p.Ser729Cys) c.*669C>G (n.*669C>G) c.*2193C>G (n.*2193C>G) c.1943C>G (p.Ser648Cys) c.19C>G c.1402-10290C>G (n.1402-10290C>G) c.2279C>G (p.Ser760Cys) c.2459C>G (p.Ser820Cys) c.2126C>G (p.Ser709Cys) | |
| 7 | g.117592536C>T | CA368981073 | CFTR | c.2369C>T (p.Ser790Phe) c.*2083C>T (n.*2083C>T) c.2186C>T (p.Ser729Phe) c.*669C>T (n.*669C>T) c.*2193C>T (n.*2193C>T) c.1943C>T (p.Ser648Phe) c.19C>T c.1402-10290C>T (n.1402-10290C>T) c.2279C>T (p.Ser760Phe) c.2459C>T (p.Ser820Phe) c.2126C>T (p.Ser709Phe) | gnomAD v4 |
| 7 | g.117592537C>A | CA457449888 | CFTR | c.2370C>A (p.Ser790=) c.*2084C>A (n.*2084C>A) c.2187C>A (p.Ser729=) c.*670C>A (n.*670C>A) c.*2194C>A (n.*2194C>A) c.1944C>A (p.Ser648=) c.20C>A c.1402-10289C>A (n.1402-10289C>A) c.2280C>A (p.Ser760=) c.2460C>A (p.Ser820=) c.2127C>A (p.Ser709=) | |
| 7 | g.117592537C>G | CA457449889 | CFTR | c.2370C>G (p.Ser790=) c.*2084C>G (n.*2084C>G) c.2187C>G (p.Ser729=) c.*670C>G (n.*670C>G) c.*2194C>G (n.*2194C>G) c.1944C>G (p.Ser648=) c.20C>G c.1402-10289C>G (n.1402-10289C>G) c.2280C>G (p.Ser760=) c.2460C>G (p.Ser820=) c.2127C>G (p.Ser709=) | |
| 7 | g.117592537C>T | CA457449892 | CFTR | c.2370C>T (p.Ser790=) c.*2084C>T (n.*2084C>T) c.2187C>T (p.Ser729=) c.*670C>T (n.*670C>T) c.*2194C>T (n.*2194C>T) c.1944C>T (p.Ser648=) c.20C>T c.1402-10289C>T (n.1402-10289C>T) c.2280C>T (p.Ser760=) c.2460C>T (p.Ser820=) c.2127C>T (p.Ser709=) | |
| 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.117592538A>C | CA368981074 | CFTR | c.2371A>C (p.Thr791Pro) c.*2085A>C (n.*2085A>C) c.2188A>C (p.Thr730Pro) c.*671A>C (n.*671A>C) c.*2195A>C (n.*2195A>C) c.1945A>C (p.Thr649Pro) c.21A>C c.1402-10288A>C (n.1402-10288A>C) c.2281A>C (p.Thr761Pro) c.2461A>C (p.Thr821Pro) c.2128A>C (p.Thr710Pro) | |
| 7 | g.117592538A>G | CA368981076 | CFTR | c.2371A>G (p.Thr791Ala) c.*2085A>G (n.*2085A>G) c.2188A>G (p.Thr730Ala) c.*671A>G (n.*671A>G) c.*2195A>G (n.*2195A>G) c.1945A>G (p.Thr649Ala) c.21A>G c.1402-10288A>G (n.1402-10288A>G) c.2281A>G (p.Thr761Ala) c.2461A>G (p.Thr821Ala) c.2128A>G (p.Thr710Ala) | |
| 7 | g.117592538A>T | CA368981075 | CFTR | c.2371A>T (p.Thr791Ser) c.*2085A>T (n.*2085A>T) c.2188A>T (p.Thr730Ser) c.*671A>T (n.*671A>T) c.*2195A>T (n.*2195A>T) c.1945A>T (p.Thr649Ser) c.21A>T c.1402-10288A>T (n.1402-10288A>T) c.2281A>T (p.Thr761Ser) c.2461A>T (p.Thr821Ser) c.2128A>T (p.Thr710Ser) | |
| 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.117592539C>A | CA368981077 | CFTR | c.2372C>A (p.Thr791Lys) c.*2086C>A (n.*2086C>A) c.2189C>A (p.Thr730Lys) c.*672C>A (n.*672C>A) c.*2196C>A (n.*2196C>A) c.1946C>A (p.Thr649Lys) c.22C>A c.1402-10287C>A (n.1402-10287C>A) c.2282C>A (p.Thr761Lys) c.2462C>A (p.Thr821Lys) c.2129C>A (p.Thr710Lys) | |
| 7 | g.117592539C= | CA1737395348 | CFTR | c.2372C= (p.Thr791=) c.*2086C= (n.*2086C=) c.2189C= (p.Thr730=) c.*672C= (n.*672C=) c.*2196C= (n.*2196C=) c.1946C= (p.Thr649=) c.22C= c.1402-10287C= (n.1402-10287C=) c.2282C= (p.Thr761=) c.2462C= (p.Thr821=) c.2129C= (p.Thr710=) | |
| 7 | g.117592539C>G | CA368981078 | CFTR | c.2372C>G (p.Thr791Arg) c.*2086C>G (n.*2086C>G) c.2189C>G (p.Thr730Arg) c.*672C>G (n.*672C>G) c.*2196C>G (n.*2196C>G) c.1946C>G (p.Thr649Arg) c.22C>G c.1402-10287C>G (n.1402-10287C>G) c.2282C>G (p.Thr761Arg) c.2462C>G (p.Thr821Arg) c.2129C>G (p.Thr710Arg) | |
| 7 | g.117592539C>T | CA368981079 | CFTR | c.2372C>T (p.Thr791Ile) c.*2086C>T (n.*2086C>T) c.2189C>T (p.Thr730Ile) c.*672C>T (n.*672C>T) c.*2196C>T (n.*2196C>T) c.1946C>T (p.Thr649Ile) c.22C>T c.1402-10287C>T (n.1402-10287C>T) c.2282C>T (p.Thr761Ile) c.2462C>T (p.Thr821Ile) c.2129C>T (p.Thr710Ile) | dbSNP |
| 7 | g.117592539_117592540delinsCA | CA1737395346 | CFTR | c.2372_2373delinsCA (p.Thr791=) c.*2086_*2087delinsCA (n.*2086_*2087delinsCA) c.2189_2190delinsCA (p.Thr730=) c.*672_*673delinsCA (n.*672_*673delinsCA) c.*2196_*2197delinsCA (n.*2196_*2197delinsCA) c.1946_1947delinsCA (p.Thr649=) c.22_23delinsCA c.1402-10287_1402-10286delinsCA (n.1402-10287_1402-10286delinsCA) c.2282_2283delinsCA (p.Thr761=) c.2462_2463delinsCA (p.Thr821=) c.2129_2130delinsCA (p.Thr710=) | |
| 7 | g.117592540del | CA915945427 | CFTR | c.2373del (p.Arg792GlufsTer11) c.*2087del (n.*2087del) c.2190del (p.Arg731GlufsTer11) c.*673del (n.*673del) c.*2197del (n.*2197del) c.1947del (p.Arg650GlufsTer11) c.23del c.1402-10286del (n.1402-10286del) c.2283del (p.Arg762GlufsTer11) c.2463del (p.Arg822GlufsTer11) c.2130del (p.Arg711GlufsTer11) | ClinVar dbSNP |
| 7 | g.117592540A= | CA1737395358 | CFTR | c.2373A= (p.Thr791=) c.*2087A= (n.*2087A=) c.2190A= (p.Thr730=) c.*673A= (n.*673A=) c.*2197A= (n.*2197A=) c.1947A= (p.Thr649=) c.23A= c.1402-10286A= (n.1402-10286A=) c.2283A= (p.Thr761=) c.2463A= (p.Thr821=) c.2130A= (p.Thr710=) | |
| 7 | g.117592540A>C | CA457449909 | CFTR | c.2373A>C (p.Thr791=) c.*2087A>C (n.*2087A>C) c.2190A>C (p.Thr730=) c.*673A>C (n.*673A>C) c.*2197A>C (n.*2197A>C) c.1947A>C (p.Thr649=) c.23A>C c.1402-10286A>C (n.1402-10286A>C) c.2283A>C (p.Thr761=) c.2463A>C (p.Thr821=) c.2130A>C (p.Thr710=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592540A>G | CA164948251 | CFTR | c.2373A>G (p.Thr791=) c.*2087A>G (n.*2087A>G) c.2190A>G (p.Thr730=) c.*673A>G (n.*673A>G) c.*2197A>G (n.*2197A>G) c.1947A>G (p.Thr649=) c.23A>G c.1402-10286A>G (n.1402-10286A>G) c.2283A>G (p.Thr761=) c.2463A>G (p.Thr821=) c.2130A>G (p.Thr710=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117592540A>T | CA457449911 | CFTR | c.2373A>T (p.Thr791=) c.*2087A>T (n.*2087A>T) c.2190A>T (p.Thr730=) c.*673A>T (n.*673A>T) c.*2197A>T (n.*2197A>T) c.1947A>T (p.Thr649=) c.23A>T c.1402-10286A>T (n.1402-10286A>T) c.2283A>T (p.Thr761=) c.2463A>T (p.Thr821=) c.2130A>T (p.Thr710=) | |
| 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=) |