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.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) | |
| 7 | g.117592476T>G | CA368980946 | CFTR | c.2309T>G (p.Leu770Arg) c.*2023T>G (n.*2023T>G) c.2126T>G (p.Leu709Arg) c.*609T>G (n.*609T>G) c.*2133T>G (n.*2133T>G) c.1883T>G (p.Leu628Arg) c.1402-10350T>G (n.1402-10350T>G) c.2219T>G (p.Leu740Arg) c.2399T>G (p.Leu800Arg) c.2066T>G (p.Leu689Arg) | |
| 7 | g.117592477G>A | CA457449710 | CFTR | c.2310G>A (p.Leu770=) c.*2024G>A (n.*2024G>A) c.2127G>A (p.Leu709=) c.*610G>A (n.*610G>A) c.*2134G>A (n.*2134G>A) c.1884G>A (p.Leu628=) c.1402-10349G>A (n.1402-10349G>A) c.2220G>A (p.Leu740=) c.2400G>A (p.Leu800=) c.2067G>A (p.Leu689=) | |
| 7 | g.117592477G>C | CA457449712 | CFTR | c.2310G>C (p.Leu770=) c.*2024G>C (n.*2024G>C) c.2127G>C (p.Leu709=) c.*610G>C (n.*610G>C) c.*2134G>C (n.*2134G>C) c.1884G>C (p.Leu628=) c.1402-10349G>C (n.1402-10349G>C) c.2220G>C (p.Leu740=) c.2400G>C (p.Leu800=) c.2067G>C (p.Leu689=) | |
| 7 | g.117592477G>T | CA457449715 | CFTR | c.2310G>T (p.Leu770=) c.*2024G>T (n.*2024G>T) c.2127G>T (p.Leu709=) c.*610G>T (n.*610G>T) c.*2134G>T (n.*2134G>T) c.1884G>T (p.Leu628=) c.1402-10349G>T (n.1402-10349G>T) c.2220G>T (p.Leu740=) c.2400G>T (p.Leu800=) c.2067G>T (p.Leu689=) | ClinVar |
| 7 | g.117592478A>C | CA368980949 | CFTR | c.2311A>C (p.Asn771His) c.*2025A>C (n.*2025A>C) c.2128A>C (p.Asn710His) c.*611A>C (n.*611A>C) c.*2135A>C (n.*2135A>C) c.1885A>C (p.Asn629His) c.1402-10348A>C (n.1402-10348A>C) c.2221A>C (p.Asn741His) c.2401A>C (p.Asn801His) c.2068A>C (p.Asn690His) | |
| 7 | g.117592478A>G | CA368980947 | CFTR | c.2311A>G (p.Asn771Asp) c.*2025A>G (n.*2025A>G) c.2128A>G (p.Asn710Asp) c.*611A>G (n.*611A>G) c.*2135A>G (n.*2135A>G) c.1885A>G (p.Asn629Asp) c.1402-10348A>G (n.1402-10348A>G) c.2221A>G (p.Asn741Asp) c.2401A>G (p.Asn801Asp) c.2068A>G (p.Asn690Asp) | |
| 7 | g.117592478A>T | CA368980948 | CFTR | c.2311A>T (p.Asn771Tyr) c.*2025A>T (n.*2025A>T) c.2128A>T (p.Asn710Tyr) c.*611A>T (n.*611A>T) c.*2135A>T (n.*2135A>T) c.1885A>T (p.Asn629Tyr) c.1402-10348A>T (n.1402-10348A>T) c.2221A>T (p.Asn741Tyr) c.2401A>T (p.Asn801Tyr) c.2068A>T (p.Asn690Tyr) | |
| 7 | g.117592479del | CA2695208516 | CFTR | c.2312del (p.Asn771ThrfsTer2) c.*2026del (n.*2026del) c.2129del (p.Asn710ThrfsTer2) c.*612del (n.*612del) c.*2136del (n.*2136del) c.1886del (p.Asn629ThrfsTer2) c.1402-10347del (n.1402-10347del) c.2222del (p.Asn741ThrfsTer2) c.2402del (p.Asn801ThrfsTer2) c.2069del (p.Asn690ThrfsTer2) | |
| 7 | g.117592479A>C | CA368980950 | CFTR | c.2312A>C (p.Asn771Thr) c.*2026A>C (n.*2026A>C) c.2129A>C (p.Asn710Thr) c.*612A>C (n.*612A>C) c.*2136A>C (n.*2136A>C) c.1886A>C (p.Asn629Thr) c.1402-10347A>C (n.1402-10347A>C) c.2222A>C (p.Asn741Thr) c.2402A>C (p.Asn801Thr) c.2069A>C (p.Asn690Thr) | |
| 7 | g.117592479A>G | CA368980951 | CFTR | c.2312A>G (p.Asn771Ser) c.*2026A>G (n.*2026A>G) c.2129A>G (p.Asn710Ser) c.*612A>G (n.*612A>G) c.*2136A>G (n.*2136A>G) c.1886A>G (p.Asn629Ser) c.1402-10347A>G (n.1402-10347A>G) c.2222A>G (p.Asn741Ser) c.2402A>G (p.Asn801Ser) c.2069A>G (p.Asn690Ser) | ClinVar gnomAD v4 |
| 7 | g.117592479A>T | CA368980952 | CFTR | c.2312A>T (p.Asn771Ile) c.*2026A>T (n.*2026A>T) c.2129A>T (p.Asn710Ile) c.*612A>T (n.*612A>T) c.*2136A>T (n.*2136A>T) c.1886A>T (p.Asn629Ile) c.1402-10347A>T (n.1402-10347A>T) c.2222A>T (p.Asn741Ile) c.2402A>T (p.Asn801Ile) c.2069A>T (p.Asn690Ile) | |
| 7 | g.117592480C>A | CA368980953 | CFTR | c.2313C>A (p.Asn771Lys) c.*2027C>A (n.*2027C>A) c.2130C>A (p.Asn710Lys) c.*613C>A (n.*613C>A) c.*2137C>A (n.*2137C>A) c.1887C>A (p.Asn629Lys) c.1402-10346C>A (n.1402-10346C>A) c.2223C>A (p.Asn741Lys) c.2403C>A (p.Asn801Lys) c.2070C>A (p.Asn690Lys) | |
| 7 | g.117592480C= | CA1737395254 | CFTR | c.2313C= (p.Asn771=) c.*2027C= (n.*2027C=) c.2130C= (p.Asn710=) c.*613C= (n.*613C=) c.*2137C= (n.*2137C=) c.1887C= (p.Asn629=) c.1402-10346C= (n.1402-10346C=) c.2223C= (p.Asn741=) c.2403C= (p.Asn801=) c.2070C= (p.Asn690=) | |
| 7 | g.117592480C>G | CA368980954 | CFTR | c.2313C>G (p.Asn771Lys) c.*2027C>G (n.*2027C>G) c.2130C>G (p.Asn710Lys) c.*613C>G (n.*613C>G) c.*2137C>G (n.*2137C>G) c.1887C>G (p.Asn629Lys) c.1402-10346C>G (n.1402-10346C>G) c.2223C>G (p.Asn741Lys) c.2403C>G (p.Asn801Lys) c.2070C>G (p.Asn690Lys) | |
| 7 | g.117592480C>T | CA4451169 | CFTR | c.2313C>T (p.Asn771=) c.*2027C>T (n.*2027C>T) c.2130C>T (p.Asn710=) c.*613C>T (n.*613C>T) c.*2137C>T (n.*2137C>T) c.1887C>T (p.Asn629=) c.1402-10346C>T (n.1402-10346C>T) c.2223C>T (p.Asn741=) c.2403C>T (p.Asn801=) c.2070C>T (p.Asn690=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592481C>A | CA368980955 | CFTR | c.2314C>A (p.Leu772Met) c.*2028C>A (n.*2028C>A) c.2131C>A (p.Leu711Met) c.*614C>A (n.*614C>A) c.*2138C>A (n.*2138C>A) c.1888C>A (p.Leu630Met) c.1402-10345C>A (n.1402-10345C>A) c.2224C>A (p.Leu742Met) c.2404C>A (p.Leu802Met) c.2071C>A (p.Leu691Met) | |
| 7 | g.117592481C>G | CA368980956 | CFTR | c.2314C>G (p.Leu772Val) c.*2028C>G (n.*2028C>G) c.2131C>G (p.Leu711Val) c.*614C>G (n.*614C>G) c.*2138C>G (n.*2138C>G) c.1888C>G (p.Leu630Val) c.1402-10345C>G (n.1402-10345C>G) c.2224C>G (p.Leu742Val) c.2404C>G (p.Leu802Val) c.2071C>G (p.Leu691Val) | |
| 7 | g.117592481C>T | CA457449724 | CFTR | c.2314C>T (p.Leu772=) c.*2028C>T (n.*2028C>T) c.2131C>T (p.Leu711=) c.*614C>T (n.*614C>T) c.*2138C>T (n.*2138C>T) c.1888C>T (p.Leu630=) c.1402-10345C>T (n.1402-10345C>T) c.2224C>T (p.Leu742=) c.2404C>T (p.Leu802=) c.2071C>T (p.Leu691=) | |
| 7 | g.117592482T>A | CA368980957 | CFTR | c.2315T>A (p.Leu772Gln) c.*2029T>A (n.*2029T>A) c.2132T>A (p.Leu711Gln) c.*615T>A (n.*615T>A) c.*2139T>A (n.*2139T>A) c.1889T>A (p.Leu630Gln) c.1402-10344T>A (n.1402-10344T>A) c.2225T>A (p.Leu742Gln) c.2405T>A (p.Leu802Gln) c.2072T>A (p.Leu691Gln) | |
| 7 | g.117592482T>C | CA368980958 | CFTR | c.2315T>C (p.Leu772Pro) c.*2029T>C (n.*2029T>C) c.2132T>C (p.Leu711Pro) c.*615T>C (n.*615T>C) c.*2139T>C (n.*2139T>C) c.1889T>C (p.Leu630Pro) c.1402-10344T>C (n.1402-10344T>C) c.2225T>C (p.Leu742Pro) c.2405T>C (p.Leu802Pro) c.2072T>C (p.Leu691Pro) | gnomAD v4 |
| 7 | g.117592482T>G | CA368980959 | CFTR | c.2315T>G (p.Leu772Arg) c.*2029T>G (n.*2029T>G) c.2132T>G (p.Leu711Arg) c.*615T>G (n.*615T>G) c.*2139T>G (n.*2139T>G) c.1889T>G (p.Leu630Arg) c.1402-10344T>G (n.1402-10344T>G) c.2225T>G (p.Leu742Arg) c.2405T>G (p.Leu802Arg) c.2072T>G (p.Leu691Arg) | |
| 7 | g.117592483G>A | CA457449727 | CFTR | c.2316G>A (p.Leu772=) c.*2030G>A (n.*2030G>A) c.2133G>A (p.Leu711=) c.*616G>A (n.*616G>A) c.*2140G>A (n.*2140G>A) c.1890G>A (p.Leu630=) c.1402-10343G>A (n.1402-10343G>A) c.2226G>A (p.Leu742=) c.2406G>A (p.Leu802=) c.2073G>A (p.Leu691=) | |
| 7 | g.117592483G>C | CA457449730 | CFTR | c.2316G>C (p.Leu772=) c.*2030G>C (n.*2030G>C) c.2133G>C (p.Leu711=) c.*616G>C (n.*616G>C) c.*2140G>C (n.*2140G>C) c.1890G>C (p.Leu630=) c.1402-10343G>C (n.1402-10343G>C) c.2226G>C (p.Leu742=) c.2406G>C (p.Leu802=) c.2073G>C (p.Leu691=) | |
| 7 | g.117592483G>T | CA457449733 | CFTR | c.2316G>T (p.Leu772=) c.*2030G>T (n.*2030G>T) c.2133G>T (p.Leu711=) c.*616G>T (n.*616G>T) c.*2140G>T (n.*2140G>T) c.1890G>T (p.Leu630=) c.1402-10343G>T (n.1402-10343G>T) c.2226G>T (p.Leu742=) c.2406G>T (p.Leu802=) c.2073G>T (p.Leu691=) | |
| 7 | g.117592484A>C | CA368980962 | CFTR | c.2317A>C (p.Met773Leu) c.*2031A>C (n.*2031A>C) c.2134A>C (p.Met712Leu) c.*617A>C (n.*617A>C) c.*2141A>C (n.*2141A>C) c.1891A>C (p.Met631Leu) c.1402-10342A>C (n.1402-10342A>C) c.2227A>C (p.Met743Leu) c.2407A>C (p.Met803Leu) c.2074A>C (p.Met692Leu) | |
| 7 | g.117592484A>G | CA368980961 | CFTR | c.2317A>G (p.Met773Val) c.*2031A>G (n.*2031A>G) c.2134A>G (p.Met712Val) c.*617A>G (n.*617A>G) c.*2141A>G (n.*2141A>G) c.1891A>G (p.Met631Val) c.1402-10342A>G (n.1402-10342A>G) c.2227A>G (p.Met743Val) c.2407A>G (p.Met803Val) c.2074A>G (p.Met692Val) | |
| 7 | g.117592484A>T | CA368980960 | CFTR | c.2317A>T (p.Met773Leu) c.*2031A>T (n.*2031A>T) c.2134A>T (p.Met712Leu) c.*617A>T (n.*617A>T) c.*2141A>T (n.*2141A>T) c.1891A>T (p.Met631Leu) c.1402-10342A>T (n.1402-10342A>T) c.2227A>T (p.Met743Leu) c.2407A>T (p.Met803Leu) c.2074A>T (p.Met692Leu) | |
| 7 | g.117592485T>A | CA368980963 | CFTR | c.2318T>A (p.Met773Lys) c.*2032T>A (n.*2032T>A) c.2135T>A (p.Met712Lys) c.*618T>A (n.*618T>A) c.*2142T>A (n.*2142T>A) c.1892T>A (p.Met631Lys) c.1402-10341T>A (n.1402-10341T>A) c.2228T>A (p.Met743Lys) c.2408T>A (p.Met803Lys) c.2075T>A (p.Met692Lys) | |
| 7 | g.117592485T>C | CA368980964 | CFTR | c.2318T>C (p.Met773Thr) c.*2032T>C (n.*2032T>C) c.2135T>C (p.Met712Thr) c.*618T>C (n.*618T>C) c.*2142T>C (n.*2142T>C) c.1892T>C (p.Met631Thr) c.1402-10341T>C (n.1402-10341T>C) c.2228T>C (p.Met743Thr) c.2408T>C (p.Met803Thr) c.2075T>C (p.Met692Thr) | |
| 7 | g.117592485T>G | CA368980965 | CFTR | c.2318T>G (p.Met773Arg) c.*2032T>G (n.*2032T>G) c.2135T>G (p.Met712Arg) c.*618T>G (n.*618T>G) c.*2142T>G (n.*2142T>G) c.1892T>G (p.Met631Arg) c.1402-10341T>G (n.1402-10341T>G) c.2228T>G (p.Met743Arg) c.2408T>G (p.Met803Arg) c.2075T>G (p.Met692Arg) |