| 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.117592520C>A | CA457449830 | CFTR | c.2353C>A (p.Arg785=) c.*2067C>A (n.*2067C>A) c.2170C>A (p.Arg724=) c.*653C>A (n.*653C>A) c.*2177C>A (n.*2177C>A) c.1927C>A (p.Arg643=) c.3C>A c.1402-10306C>A (n.1402-10306C>A) c.2263C>A (p.Arg755=) c.2443C>A (p.Arg815=) c.2110C>A (p.Arg704=) | |
| 7 | g.117592520C= | CA1737395314 | CFTR | c.2353C= (p.Arg785=) c.*2067C= (n.*2067C=) c.2170C= (p.Arg724=) c.*653C= (n.*653C=) c.*2177C= (n.*2177C=) c.1927C= (p.Arg643=) c.3C= c.1402-10306C= (n.1402-10306C=) c.2263C= (p.Arg755=) c.2443C= (p.Arg815=) c.2110C= (p.Arg704=) | |
| 7 | g.117592520C>G | CA368981041 | CFTR | c.2353C>G (p.Arg785Gly) c.*2067C>G (n.*2067C>G) c.2170C>G (p.Arg724Gly) c.*653C>G (n.*653C>G) c.*2177C>G (n.*2177C>G) c.1927C>G (p.Arg643Gly) c.3C>G c.1402-10306C>G (n.1402-10306C>G) c.2263C>G (p.Arg755Gly) c.2443C>G (p.Arg815Gly) c.2110C>G (p.Arg704Gly) | ClinVar |
| 7 | g.117592520C>T | CA326800 | CFTR | c.2353C>T (p.Arg785Ter) c.*2067C>T (n.*2067C>T) c.2170C>T (p.Arg724Ter) c.*653C>T (n.*653C>T) c.*2177C>T (n.*2177C>T) c.1927C>T (p.Arg643Ter) c.3C>T c.1402-10306C>T (n.1402-10306C>T) c.2263C>T (p.Arg755Ter) c.2443C>T (p.Arg815Ter) c.2110C>T (p.Arg704Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592521G>A | CA4451175 | CFTR | c.2354G>A (p.Arg785Gln) c.*2068G>A (n.*2068G>A) c.2171G>A (p.Arg724Gln) c.*654G>A (n.*654G>A) c.*2178G>A (n.*2178G>A) c.1928G>A (p.Arg643Gln) c.4G>A c.1402-10305G>A (n.1402-10305G>A) c.2264G>A (p.Arg755Gln) c.2444G>A (p.Arg815Gln) c.2111G>A (p.Arg704Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592521G>C | CA4451176 | CFTR | c.2354G>C (p.Arg785Pro) c.*2068G>C (n.*2068G>C) c.2171G>C (p.Arg724Pro) c.*654G>C (n.*654G>C) c.*2178G>C (n.*2178G>C) c.1928G>C (p.Arg643Pro) c.4G>C c.1402-10305G>C (n.1402-10305G>C) c.2264G>C (p.Arg755Pro) c.2444G>C (p.Arg815Pro) c.2111G>C (p.Arg704Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592521G= | CA1737395323 | CFTR | c.2354G= (p.Arg785=) c.*2068G= (n.*2068G=) c.2171G= (p.Arg724=) c.*654G= (n.*654G=) c.*2178G= (n.*2178G=) c.1928G= (p.Arg643=) c.4G= c.1402-10305G= (n.1402-10305G=) c.2264G= (p.Arg755=) c.2444G= (p.Arg815=) c.2111G= (p.Arg704=) | |
| 7 | g.117592521G>T | CA368981042 | CFTR | c.2354G>T (p.Arg785Leu) c.*2068G>T (n.*2068G>T) c.2171G>T (p.Arg724Leu) c.*654G>T (n.*654G>T) c.*2178G>T (n.*2178G>T) c.1928G>T (p.Arg643Leu) c.4G>T c.1402-10305G>T (n.1402-10305G>T) c.2264G>T (p.Arg755Leu) c.2444G>T (p.Arg815Leu) c.2111G>T (p.Arg704Leu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592521_117592528dup | CA2695208521 | CFTR | c.2354_2361dup (p.Thr788GlufsTer18) c.*2068_*2075dup (n.*2068_*2075dup) c.2171_2178dup (p.Thr727GlufsTer18) c.*654_*661dup (n.*654_*661dup) c.*2178_*2185dup (n.*2178_*2185dup) c.1928_1935dup (p.Thr646GlufsTer18) c.4_11dup c.1402-10305_1402-10298dup (n.1402-10305_1402-10298dup) c.2264_2271dup (p.Thr758GlufsTer18) c.2444_2451dup (p.Thr818GlufsTer18) c.2111_2118dup (p.Thr707GlufsTer18) | |
| 7 | g.117592522A>C | CA457449839 | CFTR | c.2355A>C (p.Arg785=) c.*2069A>C (n.*2069A>C) c.2172A>C (p.Arg724=) c.*655A>C (n.*655A>C) c.*2179A>C (n.*2179A>C) c.1929A>C (p.Arg643=) c.5A>C c.1402-10304A>C (n.1402-10304A>C) c.2265A>C (p.Arg755=) c.2445A>C (p.Arg815=) c.2112A>C (p.Arg704=) | |
| 7 | g.117592522A>G | CA457449840 | CFTR | c.2355A>G (p.Arg785=) c.*2069A>G (n.*2069A>G) c.2172A>G (p.Arg724=) c.*655A>G (n.*655A>G) c.*2179A>G (n.*2179A>G) c.1929A>G (p.Arg643=) c.5A>G c.1402-10304A>G (n.1402-10304A>G) c.2265A>G (p.Arg755=) c.2445A>G (p.Arg815=) c.2112A>G (p.Arg704=) | |
| 7 | g.117592522A>T | CA457449841 | CFTR | c.2355A>T (p.Arg785=) c.*2069A>T (n.*2069A>T) c.2172A>T (p.Arg724=) c.*655A>T (n.*655A>T) c.*2179A>T (n.*2179A>T) c.1929A>T (p.Arg643=) c.5A>T c.1402-10304A>T (n.1402-10304A>T) c.2265A>T (p.Arg755=) c.2445A>T (p.Arg815=) c.2112A>T (p.Arg704=) | |
| 7 | g.117592523A>C | CA368981043 | CFTR | c.2356A>C (p.Lys786Gln) c.*2070A>C (n.*2070A>C) c.2173A>C (p.Lys725Gln) c.*656A>C (n.*656A>C) c.*2180A>C (n.*2180A>C) c.1930A>C (p.Lys644Gln) c.6A>C c.1402-10303A>C (n.1402-10303A>C) c.2266A>C (p.Lys756Gln) c.2446A>C (p.Lys816Gln) c.2113A>C (p.Lys705Gln) | |
| 7 | g.117592523A>G | CA368981045 | CFTR | c.2356A>G (p.Lys786Glu) c.*2070A>G (n.*2070A>G) c.2173A>G (p.Lys725Glu) c.*656A>G (n.*656A>G) c.*2180A>G (n.*2180A>G) c.1930A>G (p.Lys644Glu) c.6A>G c.1402-10303A>G (n.1402-10303A>G) c.2266A>G (p.Lys756Glu) c.2446A>G (p.Lys816Glu) c.2113A>G (p.Lys705Glu) | |
| 7 | g.117592523A>T | CA368981044 | CFTR | c.2356A>T (p.Lys786Ter) c.*2070A>T (n.*2070A>T) c.2173A>T (p.Lys725Ter) c.*656A>T (n.*656A>T) c.*2180A>T (n.*2180A>T) c.1930A>T (p.Lys644Ter) c.6A>T c.1402-10303A>T (n.1402-10303A>T) c.2266A>T (p.Lys756Ter) c.2446A>T (p.Lys816Ter) c.2113A>T (p.Lys705Ter) | |
| 7 | g.117592524A>C | CA368981046 | CFTR | c.2357A>C (p.Lys786Thr) c.*2071A>C (n.*2071A>C) c.2174A>C (p.Lys725Thr) c.*657A>C (n.*657A>C) c.*2181A>C (n.*2181A>C) c.1931A>C (p.Lys644Thr) c.7A>C c.1402-10302A>C (n.1402-10302A>C) c.2267A>C (p.Lys756Thr) c.2447A>C (p.Lys816Thr) c.2114A>C (p.Lys705Thr) | |
| 7 | g.117592524A>G | CA368981047 | CFTR | c.2357A>G (p.Lys786Arg) c.*2071A>G (n.*2071A>G) c.2174A>G (p.Lys725Arg) c.*657A>G (n.*657A>G) c.*2181A>G (n.*2181A>G) c.1931A>G (p.Lys644Arg) c.7A>G c.1402-10302A>G (n.1402-10302A>G) c.2267A>G (p.Lys756Arg) c.2447A>G (p.Lys816Arg) c.2114A>G (p.Lys705Arg) | |
| 7 | g.117592524A>T | CA368981048 | CFTR | c.2357A>T (p.Lys786Met) c.*2071A>T (n.*2071A>T) c.2174A>T (p.Lys725Met) c.*657A>T (n.*657A>T) c.*2181A>T (n.*2181A>T) c.1931A>T (p.Lys644Met) c.7A>T c.1402-10302A>T (n.1402-10302A>T) c.2267A>T (p.Lys756Met) c.2447A>T (p.Lys816Met) c.2114A>T (p.Lys705Met) | |
| 7 | g.117592525G>A | CA457449854 | CFTR | c.2358G>A (p.Lys786=) c.*2072G>A (n.*2072G>A) c.2175G>A (p.Lys725=) c.*658G>A (n.*658G>A) c.*2182G>A (n.*2182G>A) c.1932G>A (p.Lys644=) c.8G>A c.1402-10301G>A (n.1402-10301G>A) c.2268G>A (p.Lys756=) c.2448G>A (p.Lys816=) c.2115G>A (p.Lys705=) | dbSNP |
| 7 | g.117592525G>C | CA4451177 | CFTR | c.2358G>C (p.Lys786Asn) c.*2072G>C (n.*2072G>C) c.2175G>C (p.Lys725Asn) c.*658G>C (n.*658G>C) c.*2182G>C (n.*2182G>C) c.1932G>C (p.Lys644Asn) c.8G>C c.1402-10301G>C (n.1402-10301G>C) c.2268G>C (p.Lys756Asn) c.2448G>C (p.Lys816Asn) c.2115G>C (p.Lys705Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592525G= | CA1737395330 | CFTR | c.2358G= (p.Lys786=) c.*2072G= (n.*2072G=) c.2175G= (p.Lys725=) c.*658G= (n.*658G=) c.*2182G= (n.*2182G=) c.1932G= (p.Lys644=) c.8G= c.1402-10301G= (n.1402-10301G=) c.2268G= (p.Lys756=) c.2448G= (p.Lys816=) c.2115G= (p.Lys705=) | |
| 7 | g.117592525G>T | CA368981049 | CFTR | c.2358G>T (p.Lys786Asn) c.*2072G>T (n.*2072G>T) c.2175G>T (p.Lys725Asn) c.*658G>T (n.*658G>T) c.*2182G>T (n.*2182G>T) c.1932G>T (p.Lys644Asn) c.8G>T c.1402-10301G>T (n.1402-10301G>T) c.2268G>T (p.Lys756Asn) c.2448G>T (p.Lys816Asn) c.2115G>T (p.Lys705Asn) | gnomAD v4 |
| 7 | g.117592526A>C | CA368981052 | CFTR | c.2359A>C (p.Thr787Pro) c.*2073A>C (n.*2073A>C) c.2176A>C (p.Thr726Pro) c.*659A>C (n.*659A>C) c.*2183A>C (n.*2183A>C) c.1933A>C (p.Thr645Pro) c.9A>C c.1402-10300A>C (n.1402-10300A>C) c.2269A>C (p.Thr757Pro) c.2449A>C (p.Thr817Pro) c.2116A>C (p.Thr706Pro) | |
| 7 | g.117592526A>G | CA368981051 | CFTR | c.2359A>G (p.Thr787Ala) c.*2073A>G (n.*2073A>G) c.2176A>G (p.Thr726Ala) c.*659A>G (n.*659A>G) c.*2183A>G (n.*2183A>G) c.1933A>G (p.Thr645Ala) c.9A>G c.1402-10300A>G (n.1402-10300A>G) c.2269A>G (p.Thr757Ala) c.2449A>G (p.Thr817Ala) c.2116A>G (p.Thr706Ala) | |
| 7 | g.117592526A>T | CA368981050 | CFTR | c.2359A>T (p.Thr787Ser) c.*2073A>T (n.*2073A>T) c.2176A>T (p.Thr726Ser) c.*659A>T (n.*659A>T) c.*2183A>T (n.*2183A>T) c.1933A>T (p.Thr645Ser) c.9A>T c.1402-10300A>T (n.1402-10300A>T) c.2269A>T (p.Thr757Ser) c.2449A>T (p.Thr817Ser) c.2116A>T (p.Thr706Ser) | |
| 7 | g.117592527C>A | CA368981053 | CFTR | c.2360C>A (p.Thr787Lys) c.*2074C>A (n.*2074C>A) c.2177C>A (p.Thr726Lys) c.*660C>A (n.*660C>A) c.*2184C>A (n.*2184C>A) c.1934C>A (p.Thr645Lys) c.10C>A c.1402-10299C>A (n.1402-10299C>A) c.2270C>A (p.Thr757Lys) c.2450C>A (p.Thr817Lys) c.2117C>A (p.Thr706Lys) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592527C>G | CA368981054 | CFTR | c.2360C>G (p.Thr787Arg) c.*2074C>G (n.*2074C>G) c.2177C>G (p.Thr726Arg) c.*660C>G (n.*660C>G) c.*2184C>G (n.*2184C>G) c.1934C>G (p.Thr645Arg) c.10C>G c.1402-10299C>G (n.1402-10299C>G) c.2270C>G (p.Thr757Arg) c.2450C>G (p.Thr817Arg) c.2117C>G (p.Thr706Arg) | |
| 7 | g.117592527C>T | CA368981055 | CFTR | c.2360C>T (p.Thr787Ile) c.*2074C>T (n.*2074C>T) c.2177C>T (p.Thr726Ile) c.*660C>T (n.*660C>T) c.*2184C>T (n.*2184C>T) c.1934C>T (p.Thr645Ile) c.10C>T c.1402-10299C>T (n.1402-10299C>T) c.2270C>T (p.Thr757Ile) c.2450C>T (p.Thr817Ile) c.2117C>T (p.Thr706Ile) | gnomAD v4 |
| 7 | g.117592528A>C | CA457449862 | CFTR | c.2361A>C (p.Thr787=) c.*2075A>C (n.*2075A>C) c.2178A>C (p.Thr726=) c.*661A>C (n.*661A>C) c.*2185A>C (n.*2185A>C) c.1935A>C (p.Thr645=) c.11A>C c.1402-10298A>C (n.1402-10298A>C) c.2271A>C (p.Thr757=) c.2451A>C (p.Thr817=) c.2118A>C (p.Thr706=) | |
| 7 | g.117592528A>G | CA457449864 | CFTR | c.2361A>G (p.Thr787=) c.*2075A>G (n.*2075A>G) c.2178A>G (p.Thr726=) c.*661A>G (n.*661A>G) c.*2185A>G (n.*2185A>G) c.1935A>G (p.Thr645=) c.11A>G c.1402-10298A>G (n.1402-10298A>G) c.2271A>G (p.Thr757=) c.2451A>G (p.Thr817=) c.2118A>G (p.Thr706=) | |
| 7 | g.117592528A>T | CA457449865 | CFTR | c.2361A>T (p.Thr787=) c.*2075A>T (n.*2075A>T) c.2178A>T (p.Thr726=) c.*661A>T (n.*661A>T) c.*2185A>T (n.*2185A>T) c.1935A>T (p.Thr645=) c.11A>T c.1402-10298A>T (n.1402-10298A>T) c.2271A>T (p.Thr757=) c.2451A>T (p.Thr817=) c.2118A>T (p.Thr706=) | |
| 7 | g.117592529A>C | CA368981056 | CFTR | c.2362A>C (p.Thr788Pro) c.*2076A>C (n.*2076A>C) c.2179A>C (p.Thr727Pro) c.*662A>C (n.*662A>C) c.*2186A>C (n.*2186A>C) c.1936A>C (p.Thr646Pro) c.12A>C c.1402-10297A>C (n.1402-10297A>C) c.2272A>C (p.Thr758Pro) c.2452A>C (p.Thr818Pro) c.2119A>C (p.Thr707Pro) | |
| 7 | g.117592529A>G | CA368981057 | CFTR | c.2362A>G (p.Thr788Ala) c.*2076A>G (n.*2076A>G) c.2179A>G (p.Thr727Ala) c.*662A>G (n.*662A>G) c.*2186A>G (n.*2186A>G) c.1936A>G (p.Thr646Ala) c.12A>G c.1402-10297A>G (n.1402-10297A>G) c.2272A>G (p.Thr758Ala) c.2452A>G (p.Thr818Ala) c.2119A>G (p.Thr707Ala) | gnomAD v4 |
| 7 | g.117592529A>T | CA368981058 | CFTR | c.2362A>T (p.Thr788Ser) c.*2076A>T (n.*2076A>T) c.2179A>T (p.Thr727Ser) c.*662A>T (n.*662A>T) c.*2186A>T (n.*2186A>T) c.1936A>T (p.Thr646Ser) c.12A>T c.1402-10297A>T (n.1402-10297A>T) c.2272A>T (p.Thr758Ser) c.2452A>T (p.Thr818Ser) c.2119A>T (p.Thr707Ser) | |
| 7 | g.117592530C>A | CA368981061 | CFTR | c.2363C>A (p.Thr788Lys) c.*2077C>A (n.*2077C>A) c.2180C>A (p.Thr727Lys) c.*663C>A (n.*663C>A) c.*2187C>A (n.*2187C>A) c.1937C>A (p.Thr646Lys) c.13C>A c.1402-10296C>A (n.1402-10296C>A) c.2273C>A (p.Thr758Lys) c.2453C>A (p.Thr818Lys) c.2120C>A (p.Thr707Lys) | dbSNP gnomAD v4 COSMIC |
| 7 | g.117592530C= | CA1737395332 | CFTR | c.2363C= (p.Thr788=) c.*2077C= (n.*2077C=) c.2180C= (p.Thr727=) c.*663C= (n.*663C=) c.*2187C= (n.*2187C=) c.1937C= (p.Thr646=) c.13C= c.1402-10296C= (n.1402-10296C=) c.2273C= (p.Thr758=) c.2453C= (p.Thr818=) c.2120C= (p.Thr707=) | |
| 7 | g.117592530C>G | CA368981059 | CFTR | c.2363C>G (p.Thr788Arg) c.*2077C>G (n.*2077C>G) c.2180C>G (p.Thr727Arg) c.*663C>G (n.*663C>G) c.*2187C>G (n.*2187C>G) c.1937C>G (p.Thr646Arg) c.13C>G c.1402-10296C>G (n.1402-10296C>G) c.2273C>G (p.Thr758Arg) c.2453C>G (p.Thr818Arg) c.2120C>G (p.Thr707Arg) | |
| 7 | g.117592530C>T | CA368981060 | CFTR | c.2363C>T (p.Thr788Ile) c.*2077C>T (n.*2077C>T) c.2180C>T (p.Thr727Ile) c.*663C>T (n.*663C>T) c.*2187C>T (n.*2187C>T) c.1937C>T (p.Thr646Ile) c.13C>T c.1402-10296C>T (n.1402-10296C>T) c.2273C>T (p.Thr758Ile) c.2453C>T (p.Thr818Ile) c.2120C>T (p.Thr707Ile) | |
| 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=) |