UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117591251_117595608delinsCTACATTTGTACTA | CA2580076490 | CFTR | c.1767-683_2619+550delinsCTACATTTGTACTA c.*1481-683_*2333+550delinsCTACATTTGTACTA c.1584-683_2436+550delinsCTACATTTGTACTA c.*67-683_*919+550delinsCTACATTTGTACTA c.*1591-683_*2443+550delinsCTACATTTGTACTA c.1341-683_2193+550delinsCTACATTTGTACTA c.1402-11575_1402-7218delinsCTACATTTGTACTA (n.1402-11575_1402-7218delinsCTACATTTGTACTA) c.1677-683_2529+550delinsCTACATTTGTACTA c.1857-683_2709+550delinsCTACATTTGTACTA c.1524-683_2376+550delinsCTACATTTGTACTA | ClinVar |
| 7 | g.117592463A>C | CA457449680 | CFTR | c.2296A>C (p.Arg766=) c.*2010A>C (n.*2010A>C) c.2113A>C (p.Arg705=) c.*596A>C (n.*596A>C) c.*2120A>C (n.*2120A>C) c.1870A>C (p.Arg624=) c.1402-10363A>C (n.1402-10363A>C) c.2206A>C (p.Arg736=) c.2386A>C (p.Arg796=) c.2053A>C (p.Arg685=) | |
| 7 | g.117592463A>G | CA368980892 | CFTR | c.2296A>G (p.Arg766Gly) c.*2010A>G (n.*2010A>G) c.2113A>G (p.Arg705Gly) c.*596A>G (n.*596A>G) c.*2120A>G (n.*2120A>G) c.1870A>G (p.Arg624Gly) c.1402-10363A>G (n.1402-10363A>G) c.2206A>G (p.Arg736Gly) c.2386A>G (p.Arg796Gly) c.2053A>G (p.Arg685Gly) | |
| 7 | g.117592463A>T | CA368980894 | CFTR | c.2296A>T (p.Arg766Trp) c.*2010A>T (n.*2010A>T) c.2113A>T (p.Arg705Trp) c.*596A>T (n.*596A>T) c.*2120A>T (n.*2120A>T) c.1870A>T (p.Arg624Trp) c.1402-10363A>T (n.1402-10363A>T) c.2206A>T (p.Arg736Trp) c.2386A>T (p.Arg796Trp) c.2053A>T (p.Arg685Trp) | |
| 7 | g.117592464G>A | CA4451168 | CFTR | c.2297G>A (p.Arg766Lys) c.*2011G>A (n.*2011G>A) c.2114G>A (p.Arg705Lys) c.*597G>A (n.*597G>A) c.*2121G>A (n.*2121G>A) c.1871G>A (p.Arg624Lys) c.1402-10362G>A (n.1402-10362G>A) c.2207G>A (p.Arg736Lys) c.2387G>A (p.Arg796Lys) c.2054G>A (p.Arg685Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592464G>C | CA368980900 | CFTR | c.2297G>C (p.Arg766Thr) c.*2011G>C (n.*2011G>C) c.2114G>C (p.Arg705Thr) c.*597G>C (n.*597G>C) c.*2121G>C (n.*2121G>C) c.1871G>C (p.Arg624Thr) c.1402-10362G>C (n.1402-10362G>C) c.2207G>C (p.Arg736Thr) c.2387G>C (p.Arg796Thr) c.2054G>C (p.Arg685Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592464G= | CA1737395223 | CFTR | c.2297G= (p.Arg766=) c.*2011G= (n.*2011G=) c.2114G= (p.Arg705=) c.*597G= (n.*597G=) c.*2121G= (n.*2121G=) c.1871G= (p.Arg624=) c.1402-10362G= (n.1402-10362G=) c.2207G= (p.Arg736=) c.2387G= (p.Arg796=) c.2054G= (p.Arg685=) | |
| 7 | g.117592464G>T | CA326790 | CFTR | c.2297G>T (p.Arg766Met) c.*2011G>T (n.*2011G>T) c.2114G>T (p.Arg705Met) c.*597G>T (n.*597G>T) c.*2121G>T (n.*2121G>T) c.1871G>T (p.Arg624Met) c.1402-10362G>T (n.1402-10362G>T) c.2207G>T (p.Arg736Met) c.2387G>T (p.Arg796Met) c.2054G>T (p.Arg685Met) | ClinVar dbSNP |
| 7 | g.117592465G>A | CA457449683 | CFTR | c.2298G>A (p.Arg766=) c.*2012G>A (n.*2012G>A) c.2115G>A (p.Arg705=) c.*598G>A (n.*598G>A) c.*2122G>A (n.*2122G>A) c.1872G>A (p.Arg624=) c.1402-10361G>A (n.1402-10361G>A) c.2208G>A (p.Arg736=) c.2388G>A (p.Arg796=) c.2055G>A (p.Arg685=) | |
| 7 | g.117592465G>C | CA368980903 | CFTR | c.2298G>C (p.Arg766Ser) c.*2012G>C (n.*2012G>C) c.2115G>C (p.Arg705Ser) c.*598G>C (n.*598G>C) c.*2122G>C (n.*2122G>C) c.1872G>C (p.Arg624Ser) c.1402-10361G>C (n.1402-10361G>C) c.2208G>C (p.Arg736Ser) c.2388G>C (p.Arg796Ser) c.2055G>C (p.Arg685Ser) | |
| 7 | g.117592465G>T | CA368980905 | CFTR | c.2298G>T (p.Arg766Ser) c.*2012G>T (n.*2012G>T) c.2115G>T (p.Arg705Ser) c.*598G>T (n.*598G>T) c.*2122G>T (n.*2122G>T) c.1872G>T (p.Arg624Ser) c.1402-10361G>T (n.1402-10361G>T) c.2208G>T (p.Arg736Ser) c.2388G>T (p.Arg796Ser) c.2055G>T (p.Arg685Ser) | |
| 7 | g.117592466C>A | CA368980906 | CFTR | c.2299C>A (p.Gln767Lys) c.*2013C>A (n.*2013C>A) c.2116C>A (p.Gln706Lys) c.*599C>A (n.*599C>A) c.*2123C>A (n.*2123C>A) c.1873C>A (p.Gln625Lys) c.1402-10360C>A (n.1402-10360C>A) c.2209C>A (p.Gln737Lys) c.2389C>A (p.Gln797Lys) c.2056C>A (p.Gln686Lys) | |
| 7 | g.117592466C= | CA1737395230 | CFTR | c.2299C= (p.Gln767=) c.*2013C= (n.*2013C=) c.2116C= (p.Gln706=) c.*599C= (n.*599C=) c.*2123C= (n.*2123C=) c.1873C= (p.Gln625=) c.1402-10360C= (n.1402-10360C=) c.2209C= (p.Gln737=) c.2389C= (p.Gln797=) c.2056C= (p.Gln686=) | |
| 7 | g.117592466C>G | CA368980909 | CFTR | c.2299C>G (p.Gln767Glu) c.*2013C>G (n.*2013C>G) c.2116C>G (p.Gln706Glu) c.*599C>G (n.*599C>G) c.*2123C>G (n.*2123C>G) c.1873C>G (p.Gln625Glu) c.1402-10360C>G (n.1402-10360C>G) c.2209C>G (p.Gln737Glu) c.2389C>G (p.Gln797Glu) c.2056C>G (p.Gln686Glu) | |
| 7 | g.117592466C>T | CA368980912 | CFTR | c.2299C>T (p.Gln767Ter) c.*2013C>T (n.*2013C>T) c.2116C>T (p.Gln706Ter) c.*599C>T (n.*599C>T) c.*2123C>T (n.*2123C>T) c.1873C>T (p.Gln625Ter) c.1402-10360C>T (n.1402-10360C>T) c.2209C>T (p.Gln737Ter) c.2389C>T (p.Gln797Ter) c.2056C>T (p.Gln686Ter) | ClinVar dbSNP |
| 7 | g.117592466_117592467insGACT | CA2684619362 | CFTR | c.2299_2300insGACT (p.Gln767ArgfsTer13) c.*2013_*2014insGACT (n.*2013_*2014insGACT) c.2116_2117insGACT (p.Gln706ArgfsTer13) c.*599_*600insGACT (n.*599_*600insGACT) c.*2123_*2124insGACT (n.*2123_*2124insGACT) c.1873_1874insGACT (p.Gln625ArgfsTer13) c.1402-10360_1402-10359insGACT (n.1402-10360_1402-10359insGACT) c.2209_2210insGACT (p.Gln737ArgfsTer13) c.2389_2390insGACT (p.Gln797ArgfsTer13) c.2056_2057insGACT (p.Gln686ArgfsTer13) | gnomAD v4 |
| 7 | g.117592467A>C | CA368980914 | CFTR | c.2300A>C (p.Gln767Pro) c.*2014A>C (n.*2014A>C) c.2117A>C (p.Gln706Pro) c.*600A>C (n.*600A>C) c.*2124A>C (n.*2124A>C) c.1874A>C (p.Gln625Pro) c.1402-10359A>C (n.1402-10359A>C) c.2210A>C (p.Gln737Pro) c.2390A>C (p.Gln797Pro) c.2057A>C (p.Gln686Pro) | |
| 7 | g.117592467A>G | CA368980916 | CFTR | c.2300A>G (p.Gln767Arg) c.*2014A>G (n.*2014A>G) c.2117A>G (p.Gln706Arg) c.*600A>G (n.*600A>G) c.*2124A>G (n.*2124A>G) c.1874A>G (p.Gln625Arg) c.1402-10359A>G (n.1402-10359A>G) c.2210A>G (p.Gln737Arg) c.2390A>G (p.Gln797Arg) c.2057A>G (p.Gln686Arg) | |
| 7 | g.117592467A>T | CA368980918 | CFTR | c.2300A>T (p.Gln767Leu) c.*2014A>T (n.*2014A>T) c.2117A>T (p.Gln706Leu) c.*600A>T (n.*600A>T) c.*2124A>T (n.*2124A>T) c.1874A>T (p.Gln625Leu) c.1402-10359A>T (n.1402-10359A>T) c.2210A>T (p.Gln737Leu) c.2390A>T (p.Gln797Leu) c.2057A>T (p.Gln686Leu) | gnomAD v4 |
| 7 | g.117592468del | CA2573141693 | CFTR | c.2301del (p.Gln767HisfsTer4) c.*2015del (n.*2015del) c.2118del (p.Gln706HisfsTer4) c.*601del (n.*601del) c.*2125del (n.*2125del) c.1875del (p.Gln625HisfsTer4) c.1402-10358del (n.1402-10358del) c.2211del (p.Gln737HisfsTer4) c.2391del (p.Gln797HisfsTer4) c.2058del (p.Gln686HisfsTer4) | ClinVar dbSNP |
| 7 | g.117592468G>A | CA457449689 | CFTR | c.2301G>A (p.Gln767=) c.*2015G>A (n.*2015G>A) c.2118G>A (p.Gln706=) c.*601G>A (n.*601G>A) c.*2125G>A (n.*2125G>A) c.1875G>A (p.Gln625=) c.1402-10358G>A (n.1402-10358G>A) c.2211G>A (p.Gln737=) c.2391G>A (p.Gln797=) c.2058G>A (p.Gln686=) | ClinVar dbSNP |
| 7 | g.117592468G>C | CA368980921 | CFTR | c.2301G>C (p.Gln767His) c.*2015G>C (n.*2015G>C) c.2118G>C (p.Gln706His) c.*601G>C (n.*601G>C) c.*2125G>C (n.*2125G>C) c.1875G>C (p.Gln625His) c.1402-10358G>C (n.1402-10358G>C) c.2211G>C (p.Gln737His) c.2391G>C (p.Gln797His) c.2058G>C (p.Gln686His) | dbSNP gnomAD v2 |
| 7 | g.117592468G= | CA1737395236 | CFTR | c.2301G= (p.Gln767=) c.*2015G= (n.*2015G=) c.2118G= (p.Gln706=) c.*601G= (n.*601G=) c.*2125G= (n.*2125G=) c.1875G= (p.Gln625=) c.1402-10358G= (n.1402-10358G=) c.2211G= (p.Gln737=) c.2391G= (p.Gln797=) c.2058G= (p.Gln686=) | |
| 7 | g.117592468G>T | CA368980923 | CFTR | c.2301G>T (p.Gln767His) c.*2015G>T (n.*2015G>T) c.2118G>T (p.Gln706His) c.*601G>T (n.*601G>T) c.*2125G>T (n.*2125G>T) c.1875G>T (p.Gln625His) c.1402-10358G>T (n.1402-10358G>T) c.2211G>T (p.Gln737His) c.2391G>T (p.Gln797His) c.2058G>T (p.Gln686His) | |
| 7 | g.117592469T>A | CA368980929 | CFTR | c.2302T>A (p.Ser768Thr) c.*2016T>A (n.*2016T>A) c.2119T>A (p.Ser707Thr) c.*602T>A (n.*602T>A) c.*2126T>A (n.*2126T>A) c.1876T>A (p.Ser626Thr) c.1402-10357T>A (n.1402-10357T>A) c.2212T>A (p.Ser738Thr) c.2392T>A (p.Ser798Thr) c.2059T>A (p.Ser687Thr) | gnomAD v4 |
| 7 | g.117592469T>C | CA368980931 | CFTR | c.2302T>C (p.Ser768Pro) c.*2016T>C (n.*2016T>C) c.2119T>C (p.Ser707Pro) c.*602T>C (n.*602T>C) c.*2126T>C (n.*2126T>C) c.1876T>C (p.Ser626Pro) c.1402-10357T>C (n.1402-10357T>C) c.2212T>C (p.Ser738Pro) c.2392T>C (p.Ser798Pro) c.2059T>C (p.Ser687Pro) | |
| 7 | g.117592469T>G | CA368980927 | CFTR | c.2302T>G (p.Ser768Ala) c.*2016T>G (n.*2016T>G) c.2119T>G (p.Ser707Ala) c.*602T>G (n.*602T>G) c.*2126T>G (n.*2126T>G) c.1876T>G (p.Ser626Ala) c.1402-10357T>G (n.1402-10357T>G) c.2212T>G (p.Ser738Ala) c.2392T>G (p.Ser798Ala) c.2059T>G (p.Ser687Ala) | |
| 7 | g.117592470C>A | CA368980935 | CFTR | c.2303C>A (p.Ser768Tyr) c.*2017C>A (n.*2017C>A) c.2120C>A (p.Ser707Tyr) c.*603C>A (n.*603C>A) c.*2127C>A (n.*2127C>A) c.1877C>A (p.Ser626Tyr) c.1402-10356C>A (n.1402-10356C>A) c.2213C>A (p.Ser738Tyr) c.2393C>A (p.Ser798Tyr) c.2060C>A (p.Ser687Tyr) | |
| 7 | g.117592470C= | CA1737395241 | CFTR | c.2303C= (p.Ser768=) c.*2017C= (n.*2017C=) c.2120C= (p.Ser707=) c.*603C= (n.*603C=) c.*2127C= (n.*2127C=) c.1877C= (p.Ser626=) c.1402-10356C= (n.1402-10356C=) c.2213C= (p.Ser738=) c.2393C= (p.Ser798=) c.2060C= (p.Ser687=) | |
| 7 | g.117592470C>G | CA368980933 | CFTR | c.2303C>G (p.Ser768Cys) c.*2017C>G (n.*2017C>G) c.2120C>G (p.Ser707Cys) c.*603C>G (n.*603C>G) c.*2127C>G (n.*2127C>G) c.1877C>G (p.Ser626Cys) c.1402-10356C>G (n.1402-10356C>G) c.2213C>G (p.Ser738Cys) c.2393C>G (p.Ser798Cys) c.2060C>G (p.Ser687Cys) | |
| 7 | g.117592470C>T | CA368980934 | CFTR | c.2303C>T (p.Ser768Phe) c.*2017C>T (n.*2017C>T) c.2120C>T (p.Ser707Phe) c.*603C>T (n.*603C>T) c.*2127C>T (n.*2127C>T) c.1877C>T (p.Ser626Phe) c.1402-10356C>T (n.1402-10356C>T) c.2213C>T (p.Ser738Phe) c.2393C>T (p.Ser798Phe) c.2060C>T (p.Ser687Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592471T>A | CA457449696 | CFTR | c.2304T>A (p.Ser768=) c.*2018T>A (n.*2018T>A) c.2121T>A (p.Ser707=) c.*604T>A (n.*604T>A) c.*2128T>A (n.*2128T>A) c.1878T>A (p.Ser626=) c.1402-10355T>A (n.1402-10355T>A) c.2214T>A (p.Ser738=) c.2394T>A (p.Ser798=) c.2061T>A (p.Ser687=) | |
| 7 | g.117592471T>C | CA457449692 | CFTR | c.2304T>C (p.Ser768=) c.*2018T>C (n.*2018T>C) c.2121T>C (p.Ser707=) c.*604T>C (n.*604T>C) c.*2128T>C (n.*2128T>C) c.1878T>C (p.Ser626=) c.1402-10355T>C (n.1402-10355T>C) c.2214T>C (p.Ser738=) c.2394T>C (p.Ser798=) c.2061T>C (p.Ser687=) | gnomAD v4 |
| 7 | g.117592471T>G | CA457449695 | CFTR | c.2304T>G (p.Ser768=) c.*2018T>G (n.*2018T>G) c.2121T>G (p.Ser707=) c.*604T>G (n.*604T>G) c.*2128T>G (n.*2128T>G) c.1878T>G (p.Ser626=) c.1402-10355T>G (n.1402-10355T>G) c.2214T>G (p.Ser738=) c.2394T>G (p.Ser798=) c.2061T>G (p.Ser687=) | |
| 7 | g.117592472G>A | CA368980936 | CFTR | c.2305G>A (p.Val769Ile) c.*2019G>A (n.*2019G>A) c.2122G>A (p.Val708Ile) c.*605G>A (n.*605G>A) c.*2129G>A (n.*2129G>A) c.1879G>A (p.Val627Ile) c.1402-10354G>A (n.1402-10354G>A) c.2215G>A (p.Val739Ile) c.2395G>A (p.Val799Ile) c.2062G>A (p.Val688Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592472G>C | CA368980937 | CFTR | c.2305G>C (p.Val769Leu) c.*2019G>C (n.*2019G>C) c.2122G>C (p.Val708Leu) c.*605G>C (n.*605G>C) c.*2129G>C (n.*2129G>C) c.1879G>C (p.Val627Leu) c.1402-10354G>C (n.1402-10354G>C) c.2215G>C (p.Val739Leu) c.2395G>C (p.Val799Leu) c.2062G>C (p.Val688Leu) | |
| 7 | g.117592472G= | CA1737395247 | CFTR | c.2305G= (p.Val769=) c.*2019G= (n.*2019G=) c.2122G= (p.Val708=) c.*605G= (n.*605G=) c.*2129G= (n.*2129G=) c.1879G= (p.Val627=) c.1402-10354G= (n.1402-10354G=) c.2215G= (p.Val739=) c.2395G= (p.Val799=) c.2062G= (p.Val688=) | |
| 7 | g.117592472G>T | CA368980938 | CFTR | c.2305G>T (p.Val769Phe) c.*2019G>T (n.*2019G>T) c.2122G>T (p.Val708Phe) c.*605G>T (n.*605G>T) c.*2129G>T (n.*2129G>T) c.1879G>T (p.Val627Phe) c.1402-10354G>T (n.1402-10354G>T) c.2215G>T (p.Val739Phe) c.2395G>T (p.Val799Phe) c.2062G>T (p.Val688Phe) | |
| 7 | g.117592473T>A | CA368980939 | CFTR | c.2306T>A (p.Val769Asp) c.*2020T>A (n.*2020T>A) c.2123T>A (p.Val708Asp) c.*606T>A (n.*606T>A) c.*2130T>A (n.*2130T>A) c.1880T>A (p.Val627Asp) c.1402-10353T>A (n.1402-10353T>A) c.2216T>A (p.Val739Asp) c.2396T>A (p.Val799Asp) c.2063T>A (p.Val688Asp) | |
| 7 | g.117592473T>C | CA368980940 | CFTR | c.2306T>C (p.Val769Ala) c.*2020T>C (n.*2020T>C) c.2123T>C (p.Val708Ala) c.*606T>C (n.*606T>C) c.*2130T>C (n.*2130T>C) c.1880T>C (p.Val627Ala) c.1402-10353T>C (n.1402-10353T>C) c.2216T>C (p.Val739Ala) c.2396T>C (p.Val799Ala) c.2063T>C (p.Val688Ala) | |
| 7 | g.117592473T>G | CA368980941 | CFTR | c.2306T>G (p.Val769Gly) c.*2020T>G (n.*2020T>G) c.2123T>G (p.Val708Gly) c.*606T>G (n.*606T>G) c.*2130T>G (n.*2130T>G) c.1880T>G (p.Val627Gly) c.1402-10353T>G (n.1402-10353T>G) c.2216T>G (p.Val739Gly) c.2396T>G (p.Val799Gly) c.2063T>G (p.Val688Gly) | |
| 7 | g.117592474C>A | CA457449701 | CFTR | c.2307C>A (p.Val769=) c.*2021C>A (n.*2021C>A) c.2124C>A (p.Val708=) c.*607C>A (n.*607C>A) c.*2131C>A (n.*2131C>A) c.1881C>A (p.Val627=) c.1402-10352C>A (n.1402-10352C>A) c.2217C>A (p.Val739=) c.2397C>A (p.Val799=) c.2064C>A (p.Val688=) | gnomAD v4 |
| 7 | g.117592474C= | CA1737395249 | CFTR | c.2307C= (p.Val769=) c.*2021C= (n.*2021C=) c.2124C= (p.Val708=) c.*607C= (n.*607C=) c.*2131C= (n.*2131C=) c.1881C= (p.Val627=) c.1402-10352C= (n.1402-10352C=) c.2217C= (p.Val739=) c.2397C= (p.Val799=) c.2064C= (p.Val688=) | |
| 7 | g.117592474C>G | CA457449705 | CFTR | c.2307C>G (p.Val769=) c.*2021C>G (n.*2021C>G) c.2124C>G (p.Val708=) c.*607C>G (n.*607C>G) c.*2131C>G (n.*2131C>G) c.1881C>G (p.Val627=) c.1402-10352C>G (n.1402-10352C>G) c.2217C>G (p.Val739=) c.2397C>G (p.Val799=) c.2064C>G (p.Val688=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592474C>T | CA457449703 | CFTR | c.2307C>T (p.Val769=) c.*2021C>T (n.*2021C>T) c.2124C>T (p.Val708=) c.*607C>T (n.*607C>T) c.*2131C>T (n.*2131C>T) c.1881C>T (p.Val627=) c.1402-10352C>T (n.1402-10352C>T) c.2217C>T (p.Val739=) c.2397C>T (p.Val799=) c.2064C>T (p.Val688=) | dbSNP |
| 7 | g.117592475C>A | CA368980942 | CFTR | c.2308C>A (p.Leu770Met) c.*2022C>A (n.*2022C>A) c.2125C>A (p.Leu709Met) c.*608C>A (n.*608C>A) c.*2132C>A (n.*2132C>A) c.1882C>A (p.Leu628Met) c.1402-10351C>A (n.1402-10351C>A) c.2218C>A (p.Leu740Met) c.2398C>A (p.Leu800Met) c.2065C>A (p.Leu689Met) | |
| 7 | g.117592475C>G | CA368980943 | CFTR | c.2308C>G (p.Leu770Val) c.*2022C>G (n.*2022C>G) c.2125C>G (p.Leu709Val) c.*608C>G (n.*608C>G) c.*2132C>G (n.*2132C>G) c.1882C>G (p.Leu628Val) c.1402-10351C>G (n.1402-10351C>G) c.2218C>G (p.Leu740Val) c.2398C>G (p.Leu800Val) c.2065C>G (p.Leu689Val) | |
| 7 | g.117592475C>T | CA457449709 | CFTR | c.2308C>T (p.Leu770=) c.*2022C>T (n.*2022C>T) c.2125C>T (p.Leu709=) c.*608C>T (n.*608C>T) c.*2132C>T (n.*2132C>T) c.1882C>T (p.Leu628=) c.1402-10351C>T (n.1402-10351C>T) c.2218C>T (p.Leu740=) c.2398C>T (p.Leu800=) c.2065C>T (p.Leu689=) | |
| 7 | g.117592476T>A | CA368980944 | CFTR | c.2309T>A (p.Leu770Gln) c.*2023T>A (n.*2023T>A) c.2126T>A (p.Leu709Gln) c.*609T>A (n.*609T>A) c.*2133T>A (n.*2133T>A) c.1883T>A (p.Leu628Gln) c.1402-10350T>A (n.1402-10350T>A) c.2219T>A (p.Leu740Gln) c.2399T>A (p.Leu800Gln) c.2066T>A (p.Leu689Gln) | |
| 7 | g.117592476T>C | CA368980945 | CFTR | c.2309T>C (p.Leu770Pro) c.*2023T>C (n.*2023T>C) c.2126T>C (p.Leu709Pro) c.*609T>C (n.*609T>C) c.*2133T>C (n.*2133T>C) c.1883T>C (p.Leu628Pro) c.1402-10350T>C (n.1402-10350T>C) c.2219T>C (p.Leu740Pro) c.2399T>C (p.Leu800Pro) c.2066T>C (p.Leu689Pro) |