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.117592375G>A | CA457449435 | CFTR | c.2208G>A (p.Leu736=) c.*1922G>A (n.*1922G>A) c.2025G>A (p.Leu675=) c.*508G>A (n.*508G>A) c.*2032G>A (n.*2032G>A) c.1782G>A (p.Leu594=) c.1402-10451G>A (n.1402-10451G>A) c.2118G>A (p.Leu706=) c.2298G>A (p.Leu766=) c.1965G>A (p.Leu655=) | ClinVar |
| 7 | g.117592375G>C | CA457449438 | CFTR | c.2208G>C (p.Leu736=) c.*1922G>C (n.*1922G>C) c.2025G>C (p.Leu675=) c.*508G>C (n.*508G>C) c.*2032G>C (n.*2032G>C) c.1782G>C (p.Leu594=) c.1402-10451G>C (n.1402-10451G>C) c.2118G>C (p.Leu706=) c.2298G>C (p.Leu766=) c.1965G>C (p.Leu655=) | |
| 7 | g.117592375G>T | CA457449441 | CFTR | c.2208G>T (p.Leu736=) c.*1922G>T (n.*1922G>T) c.2025G>T (p.Leu675=) c.*508G>T (n.*508G>T) c.*2032G>T (n.*2032G>T) c.1782G>T (p.Leu594=) c.1402-10451G>T (n.1402-10451G>T) c.2118G>T (p.Leu706=) c.2298G>T (p.Leu766=) c.1965G>T (p.Leu655=) | |
| 7 | g.117592375_117592376insC | CA2695208513 | CFTR | c.2208_2209insC (p.Ser737LeufsTer7) c.*1922_*1923insC (n.*1922_*1923insC) c.2025_2026insC (p.Ser676LeufsTer7) c.*508_*509insC (n.*508_*509insC) c.*2032_*2033insC (n.*2032_*2033insC) c.1782_1783insC (p.Ser595LeufsTer7) c.1402-10451_1402-10450insC (n.1402-10451_1402-10450insC) c.2118_2119insC (p.Ser707LeufsTer7) c.2298_2299insC (p.Ser767LeufsTer7) c.1965_1966insC (p.Ser656LeufsTer7) | |
| 7 | g.117592376T>A | CA4451153 | CFTR | c.2209T>A (p.Ser737Thr) c.*1923T>A (n.*1923T>A) c.2026T>A (p.Ser676Thr) c.*509T>A (n.*509T>A) c.*2033T>A (n.*2033T>A) c.1783T>A (p.Ser595Thr) c.1402-10450T>A (n.1402-10450T>A) c.2119T>A (p.Ser707Thr) c.2299T>A (p.Ser767Thr) c.1966T>A (p.Ser656Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592376T>C | CA368980413 | CFTR | c.2209T>C (p.Ser737Pro) c.*1923T>C (n.*1923T>C) c.2026T>C (p.Ser676Pro) c.*509T>C (n.*509T>C) c.*2033T>C (n.*2033T>C) c.1783T>C (p.Ser595Pro) c.1402-10450T>C (n.1402-10450T>C) c.2119T>C (p.Ser707Pro) c.2299T>C (p.Ser767Pro) c.1966T>C (p.Ser656Pro) | |
| 7 | g.117592376T>G | CA368980416 | CFTR | c.2209T>G (p.Ser737Ala) c.*1923T>G (n.*1923T>G) c.2026T>G (p.Ser676Ala) c.*509T>G (n.*509T>G) c.*2033T>G (n.*2033T>G) c.1783T>G (p.Ser595Ala) c.1402-10450T>G (n.1402-10450T>G) c.2119T>G (p.Ser707Ala) c.2299T>G (p.Ser767Ala) c.1966T>G (p.Ser656Ala) | |
| 7 | g.117592376T= | CA1737395016 | CFTR | c.2209T= (p.Ser737=) c.*1923T= (n.*1923T=) c.2026T= (p.Ser676=) c.*509T= (n.*509T=) c.*2033T= (n.*2033T=) c.1783T= (p.Ser595=) c.1402-10450T= (n.1402-10450T=) c.2119T= (p.Ser707=) c.2299T= (p.Ser767=) c.1966T= (p.Ser656=) | |
| 7 | g.117592377C>A | CA368980418 | CFTR | c.2210C>A (p.Ser737Tyr) c.*1924C>A (n.*1924C>A) c.2027C>A (p.Ser676Tyr) c.*510C>A (n.*510C>A) c.*2034C>A (n.*2034C>A) c.1784C>A (p.Ser595Tyr) c.1402-10449C>A (n.1402-10449C>A) c.2120C>A (p.Ser707Tyr) c.2300C>A (p.Ser767Tyr) c.1967C>A (p.Ser656Tyr) | |
| 7 | g.117592377C= | CA1737395019 | CFTR | c.2210C= (p.Ser737=) c.*1924C= (n.*1924C=) c.2027C= (p.Ser676=) c.*510C= (n.*510C=) c.*2034C= (n.*2034C=) c.1784C= (p.Ser595=) c.1402-10449C= (n.1402-10449C=) c.2120C= (p.Ser707=) c.2300C= (p.Ser767=) c.1967C= (p.Ser656=) | |
| 7 | g.117592377C>G | CA368980420 | CFTR | c.2210C>G (p.Ser737Cys) c.*1924C>G (n.*1924C>G) c.2027C>G (p.Ser676Cys) c.*510C>G (n.*510C>G) c.*2034C>G (n.*2034C>G) c.1784C>G (p.Ser595Cys) c.1402-10449C>G (n.1402-10449C>G) c.2120C>G (p.Ser707Cys) c.2300C>G (p.Ser767Cys) c.1967C>G (p.Ser656Cys) | |
| 7 | g.117592377C>T | CA326770 | CFTR | c.2210C>T (p.Ser737Phe) c.*1924C>T (n.*1924C>T) c.2027C>T (p.Ser676Phe) c.*510C>T (n.*510C>T) c.*2034C>T (n.*2034C>T) c.1784C>T (p.Ser595Phe) c.1402-10449C>T (n.1402-10449C>T) c.2120C>T (p.Ser707Phe) c.2300C>T (p.Ser767Phe) c.1967C>T (p.Ser656Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592378C>A | CA457449446 | CFTR | c.2211C>A (p.Ser737=) c.*1925C>A (n.*1925C>A) c.2028C>A (p.Ser676=) c.*511C>A (n.*511C>A) c.*2035C>A (n.*2035C>A) c.1785C>A (p.Ser595=) c.1402-10448C>A (n.1402-10448C>A) c.2121C>A (p.Ser707=) c.2301C>A (p.Ser767=) c.1968C>A (p.Ser656=) | |
| 7 | g.117592378C>G | CA457449447 | CFTR | c.2211C>G (p.Ser737=) c.*1925C>G (n.*1925C>G) c.2028C>G (p.Ser676=) c.*511C>G (n.*511C>G) c.*2035C>G (n.*2035C>G) c.1785C>G (p.Ser595=) c.1402-10448C>G (n.1402-10448C>G) c.2121C>G (p.Ser707=) c.2301C>G (p.Ser767=) c.1968C>G (p.Ser656=) | |
| 7 | g.117592378C>T | CA457449448 | CFTR | c.2211C>T (p.Ser737=) c.*1925C>T (n.*1925C>T) c.2028C>T (p.Ser676=) c.*511C>T (n.*511C>T) c.*2035C>T (n.*2035C>T) c.1785C>T (p.Ser595=) c.1402-10448C>T (n.1402-10448C>T) c.2121C>T (p.Ser707=) c.2301C>T (p.Ser767=) c.1968C>T (p.Ser656=) | ClinVar |
| 7 | g.117592379T>A | CA368980423 | CFTR | c.2212T>A (p.Leu738Ile) c.*1926T>A (n.*1926T>A) c.2029T>A (p.Leu677Ile) c.*512T>A (n.*512T>A) c.*2036T>A (n.*2036T>A) c.1786T>A (p.Leu596Ile) c.1402-10447T>A (n.1402-10447T>A) c.2122T>A (p.Leu708Ile) c.2302T>A (p.Leu768Ile) c.1969T>A (p.Leu657Ile) | |
| 7 | g.117592379T>C | CA457449451 | CFTR | c.2212T>C (p.Leu738=) c.*1926T>C (n.*1926T>C) c.2029T>C (p.Leu677=) c.*512T>C (n.*512T>C) c.*2036T>C (n.*2036T>C) c.1786T>C (p.Leu596=) c.1402-10447T>C (n.1402-10447T>C) c.2122T>C (p.Leu708=) c.2302T>C (p.Leu768=) c.1969T>C (p.Leu657=) | |
| 7 | g.117592379T>G | CA368980426 | CFTR | c.2212T>G (p.Leu738Val) c.*1926T>G (n.*1926T>G) c.2029T>G (p.Leu677Val) c.*512T>G (n.*512T>G) c.*2036T>G (n.*2036T>G) c.1786T>G (p.Leu596Val) c.1402-10447T>G (n.1402-10447T>G) c.2122T>G (p.Leu708Val) c.2302T>G (p.Leu768Val) c.1969T>G (p.Leu657Val) | dbSNP gnomAD v4 |
| 7 | g.117592380T>A | CA368980432 | CFTR | c.2213T>A (p.Leu738Ter) c.*1927T>A (n.*1927T>A) c.2030T>A (p.Leu677Ter) c.*513T>A (n.*513T>A) c.*2037T>A (n.*2037T>A) c.1787T>A (p.Leu596Ter) c.1402-10446T>A (n.1402-10446T>A) c.2123T>A (p.Leu708Ter) c.2303T>A (p.Leu768Ter) c.1970T>A (p.Leu657Ter) | |
| 7 | g.117592380T>C | CA368980428 | CFTR | c.2213T>C (p.Leu738Ser) c.*1927T>C (n.*1927T>C) c.2030T>C (p.Leu677Ser) c.*513T>C (n.*513T>C) c.*2037T>C (n.*2037T>C) c.1787T>C (p.Leu596Ser) c.1402-10446T>C (n.1402-10446T>C) c.2123T>C (p.Leu708Ser) c.2303T>C (p.Leu768Ser) c.1970T>C (p.Leu657Ser) | |
| 7 | g.117592380T>G | CA368980429 | CFTR | c.2213T>G (p.Leu738Ter) c.*1927T>G (n.*1927T>G) c.2030T>G (p.Leu677Ter) c.*513T>G (n.*513T>G) c.*2037T>G (n.*2037T>G) c.1787T>G (p.Leu596Ter) c.1402-10446T>G (n.1402-10446T>G) c.2123T>G (p.Leu708Ter) c.2303T>G (p.Leu768Ter) c.1970T>G (p.Leu657Ter) | ClinVar |
| 7 | g.117592381A= | CA1737395023 | CFTR | c.2214A= (p.Leu738=) c.*1928A= (n.*1928A=) c.2031A= (p.Leu677=) c.*514A= (n.*514A=) c.*2038A= (n.*2038A=) c.1788A= (p.Leu596=) c.1402-10445A= (n.1402-10445A=) c.2124A= (p.Leu708=) c.2304A= (p.Leu768=) c.1971A= (p.Leu657=) | |
| 7 | g.117592381A>C | CA368980434 | CFTR | c.2214A>C (p.Leu738Phe) c.*1928A>C (n.*1928A>C) c.2031A>C (p.Leu677Phe) c.*514A>C (n.*514A>C) c.*2038A>C (n.*2038A>C) c.1788A>C (p.Leu596Phe) c.1402-10445A>C (n.1402-10445A>C) c.2124A>C (p.Leu708Phe) c.2304A>C (p.Leu768Phe) c.1971A>C (p.Leu657Phe) | dbSNP |
| 7 | g.117592381A>G | CA457449456 | CFTR | c.2214A>G (p.Leu738=) c.*1928A>G (n.*1928A>G) c.2031A>G (p.Leu677=) c.*514A>G (n.*514A>G) c.*2038A>G (n.*2038A>G) c.1788A>G (p.Leu596=) c.1402-10445A>G (n.1402-10445A>G) c.2124A>G (p.Leu708=) c.2304A>G (p.Leu768=) c.1971A>G (p.Leu657=) | |
| 7 | g.117592381A>T | CA368980436 | CFTR | c.2214A>T (p.Leu738Phe) c.*1928A>T (n.*1928A>T) c.2031A>T (p.Leu677Phe) c.*514A>T (n.*514A>T) c.*2038A>T (n.*2038A>T) c.1788A>T (p.Leu596Phe) c.1402-10445A>T (n.1402-10445A>T) c.2124A>T (p.Leu708Phe) c.2304A>T (p.Leu768Phe) c.1971A>T (p.Leu657Phe) | gnomAD v4 |
| 7 | g.117592381_117592382delinsAG | CA1737395021 | CFTR | c.2214_2215delinsAG (p.Leu738=) c.*1928_*1929delinsAG (n.*1928_*1929delinsAG) c.2031_2032delinsAG (p.Leu677=) c.*514_*515delinsAG (n.*514_*515delinsAG) c.*2038_*2039delinsAG (n.*2038_*2039delinsAG) c.1788_1789delinsAG (p.Leu596=) c.1402-10445_1402-10444delinsAG (n.1402-10445_1402-10444delinsAG) c.2124_2125delinsAG (p.Leu708=) c.2304_2305delinsAG (p.Leu768=) c.1971_1972delinsAG (p.Leu657=) | |
| 7 | g.117592382del | CA328097 | CFTR | c.2215del (p.Val739TyrfsTer16) c.*1929del (n.*1929del) c.2032del (p.Val678TyrfsTer16) c.*515del (n.*515del) c.*2039del (n.*2039del) c.1789del (p.Val597TyrfsTer16) c.1402-10444del (n.1402-10444del) c.2125del (p.Val709TyrfsTer16) c.2305del (p.Val769TyrfsTer16) c.1972del (p.Val658TyrfsTer16) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592382G>A | CA4451154 | CFTR | c.2215G>A (p.Val739Ile) c.*1929G>A (n.*1929G>A) c.2032G>A (p.Val678Ile) c.*515G>A (n.*515G>A) c.*2039G>A (n.*2039G>A) c.1789G>A (p.Val597Ile) c.1402-10444G>A (n.1402-10444G>A) c.2125G>A (p.Val709Ile) c.2305G>A (p.Val769Ile) c.1972G>A (p.Val658Ile) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 7 | g.117592382G>C | CA368980440 | CFTR | c.2215G>C (p.Val739Leu) c.*1929G>C (n.*1929G>C) c.2032G>C (p.Val678Leu) c.*515G>C (n.*515G>C) c.*2039G>C (n.*2039G>C) c.1789G>C (p.Val597Leu) c.1402-10444G>C (n.1402-10444G>C) c.2125G>C (p.Val709Leu) c.2305G>C (p.Val769Leu) c.1972G>C (p.Val658Leu) | gnomAD v4 |
| 7 | g.117592382G= | CA1737395030 | CFTR | c.2215G= (p.Val739=) c.*1929G= (n.*1929G=) c.2032G= (p.Val678=) c.*515G= (n.*515G=) c.*2039G= (n.*2039G=) c.1789G= (p.Val597=) c.1402-10444G= (n.1402-10444G=) c.2125G= (p.Val709=) c.2305G= (p.Val769=) c.1972G= (p.Val658=) | |
| 7 | g.117592382G>T | CA368980442 | CFTR | c.2215G>T (p.Val739Leu) c.*1929G>T (n.*1929G>T) c.2032G>T (p.Val678Leu) c.*515G>T (n.*515G>T) c.*2039G>T (n.*2039G>T) c.1789G>T (p.Val597Leu) c.1402-10444G>T (n.1402-10444G>T) c.2125G>T (p.Val709Leu) c.2305G>T (p.Val769Leu) c.1972G>T (p.Val658Leu) | |
| 7 | g.117592383T>A | CA368980446 | CFTR | c.2216T>A (p.Val739Glu) c.*1930T>A (n.*1930T>A) c.2033T>A (p.Val678Glu) c.*516T>A (n.*516T>A) c.*2040T>A (n.*2040T>A) c.1790T>A (p.Val597Glu) c.1402-10443T>A (n.1402-10443T>A) c.2126T>A (p.Val709Glu) c.2306T>A (p.Val769Glu) c.1973T>A (p.Val658Glu) | |
| 7 | g.117592383T>C | CA368980448 | CFTR | c.2216T>C (p.Val739Ala) c.*1930T>C (n.*1930T>C) c.2033T>C (p.Val678Ala) c.*516T>C (n.*516T>C) c.*2040T>C (n.*2040T>C) c.1790T>C (p.Val597Ala) c.1402-10443T>C (n.1402-10443T>C) c.2126T>C (p.Val709Ala) c.2306T>C (p.Val769Ala) c.1973T>C (p.Val658Ala) | gnomAD v4 |
| 7 | g.117592383T>G | CA368980451 | CFTR | c.2216T>G (p.Val739Gly) c.*1930T>G (n.*1930T>G) c.2033T>G (p.Val678Gly) c.*516T>G (n.*516T>G) c.*2040T>G (n.*2040T>G) c.1790T>G (p.Val597Gly) c.1402-10443T>G (n.1402-10443T>G) c.2126T>G (p.Val709Gly) c.2306T>G (p.Val769Gly) c.1973T>G (p.Val658Gly) | gnomAD v4 |
| 7 | g.117592384A>C | CA457449464 | CFTR | c.2217A>C (p.Val739=) c.*1931A>C (n.*1931A>C) c.2034A>C (p.Val678=) c.*517A>C (n.*517A>C) c.*2041A>C (n.*2041A>C) c.1791A>C (p.Val597=) c.1402-10442A>C (n.1402-10442A>C) c.2127A>C (p.Val709=) c.2307A>C (p.Val769=) c.1974A>C (p.Val658=) | |
| 7 | g.117592384A>G | CA457449465 | CFTR | c.2217A>G (p.Val739=) c.*1931A>G (n.*1931A>G) c.2034A>G (p.Val678=) c.*517A>G (n.*517A>G) c.*2041A>G (n.*2041A>G) c.1791A>G (p.Val597=) c.1402-10442A>G (n.1402-10442A>G) c.2127A>G (p.Val709=) c.2307A>G (p.Val769=) c.1974A>G (p.Val658=) | ClinVar |
| 7 | g.117592384A>T | CA457449466 | CFTR | c.2217A>T (p.Val739=) c.*1931A>T (n.*1931A>T) c.2034A>T (p.Val678=) c.*517A>T (n.*517A>T) c.*2041A>T (n.*2041A>T) c.1791A>T (p.Val597=) c.1402-10442A>T (n.1402-10442A>T) c.2127A>T (p.Val709=) c.2307A>T (p.Val769=) c.1974A>T (p.Val658=) | |
| 7 | g.117592385C>A | CA368980454 | CFTR | c.2218C>A (p.Pro740Thr) c.*1932C>A (n.*1932C>A) c.2035C>A (p.Pro679Thr) c.*518C>A (n.*518C>A) c.*2042C>A (n.*2042C>A) c.1792C>A (p.Pro598Thr) c.1402-10441C>A (n.1402-10441C>A) c.2128C>A (p.Pro710Thr) c.2308C>A (p.Pro770Thr) c.1975C>A (p.Pro659Thr) | |
| 7 | g.117592385C>G | CA368980456 | CFTR | c.2218C>G (p.Pro740Ala) c.*1932C>G (n.*1932C>G) c.2035C>G (p.Pro679Ala) c.*518C>G (n.*518C>G) c.*2042C>G (n.*2042C>G) c.1792C>G (p.Pro598Ala) c.1402-10441C>G (n.1402-10441C>G) c.2128C>G (p.Pro710Ala) c.2308C>G (p.Pro770Ala) c.1975C>G (p.Pro659Ala) | |
| 7 | g.117592385C>T | CA368980459 | CFTR | c.2218C>T (p.Pro740Ser) c.*1932C>T (n.*1932C>T) c.2035C>T (p.Pro679Ser) c.*518C>T (n.*518C>T) c.*2042C>T (n.*2042C>T) c.1792C>T (p.Pro598Ser) c.1402-10441C>T (n.1402-10441C>T) c.2128C>T (p.Pro710Ser) c.2308C>T (p.Pro770Ser) c.1975C>T (p.Pro659Ser) | |
| 7 | g.117592385_117592386insAATGGAAAATTTT | CA2507749182 | CFTR | c.2218_2219insAATGGAAAATTTT (p.Pro740GlnfsTer8) c.*1932_*1933insAATGGAAAATTTT (n.*1932_*1933insAATGGAAAATTTT) c.2035_2036insAATGGAAAATTTT (p.Pro679GlnfsTer8) c.*518_*519insAATGGAAAATTTT (n.*518_*519insAATGGAAAATTTT) c.*2042_*2043insAATGGAAAATTTT (n.*2042_*2043insAATGGAAAATTTT) c.1792_1793insAATGGAAAATTTT (p.Pro598GlnfsTer8) c.1402-10441_1402-10440insAATGGAAAATTTT (n.1402-10441_1402-10440insAATGGAAAATTTT) c.2128_2129insAATGGAAAATTTT (p.Pro710GlnfsTer8) c.2308_2309insAATGGAAAATTTT (p.Pro770GlnfsTer8) c.1975_1976insAATGGAAAATTTT (p.Pro659GlnfsTer8) | |
| 7 | g.117592386C>A | CA368980466 | CFTR | c.2219C>A (p.Pro740Gln) c.*1933C>A (n.*1933C>A) c.2036C>A (p.Pro679Gln) c.*519C>A (n.*519C>A) c.*2043C>A (n.*2043C>A) c.1793C>A (p.Pro598Gln) c.1402-10440C>A (n.1402-10440C>A) c.2129C>A (p.Pro710Gln) c.2309C>A (p.Pro770Gln) c.1976C>A (p.Pro659Gln) | dbSNP |
| 7 | g.117592386C= | CA1737395036 | CFTR | c.2219C= (p.Pro740=) c.*1933C= (n.*1933C=) c.2036C= (p.Pro679=) c.*519C= (n.*519C=) c.*2043C= (n.*2043C=) c.1793C= (p.Pro598=) c.1402-10440C= (n.1402-10440C=) c.2129C= (p.Pro710=) c.2309C= (p.Pro770=) c.1976C= (p.Pro659=) | |
| 7 | g.117592386C>G | CA368980464 | CFTR | c.2219C>G (p.Pro740Arg) c.*1933C>G (n.*1933C>G) c.2036C>G (p.Pro679Arg) c.*519C>G (n.*519C>G) c.*2043C>G (n.*2043C>G) c.1793C>G (p.Pro598Arg) c.1402-10440C>G (n.1402-10440C>G) c.2129C>G (p.Pro710Arg) c.2309C>G (p.Pro770Arg) c.1976C>G (p.Pro659Arg) | gnomAD v4 |
| 7 | g.117592386C>T | CA4451155 | CFTR | c.2219C>T (p.Pro740Leu) c.*1933C>T (n.*1933C>T) c.2036C>T (p.Pro679Leu) c.*519C>T (n.*519C>T) c.*2043C>T (n.*2043C>T) c.1793C>T (p.Pro598Leu) c.1402-10440C>T (n.1402-10440C>T) c.2129C>T (p.Pro710Leu) c.2309C>T (p.Pro770Leu) c.1976C>T (p.Pro659Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592386_117592387insGTATAGAGTTGATTGGATTG | CA2570260356 | CFTR | c.2219_2220insGTATAGAGTTGATTGGATTG (p.Asp741TyrfsTer21) c.*1933_*1934insGTATAGAGTTGATTGGATTG (n.*1933_*1934insGTATAGAGTTGATTGGATTG) c.2036_2037insGTATAGAGTTGATTGGATTG (p.Asp680TyrfsTer21) c.*519_*520insGTATAGAGTTGATTGGATTG (n.*519_*520insGTATAGAGTTGATTGGATTG) c.*2043_*2044insGTATAGAGTTGATTGGATTG (n.*2043_*2044insGTATAGAGTTGATTGGATTG) c.1793_1794insGTATAGAGTTGATTGGATTG (p.Asp599TyrfsTer21) c.1402-10440_1402-10439insGTATAGAGTTGATTGGATTG (n.1402-10440_1402-10439insGTATAGAGTTGATTGGATTG) c.2129_2130insGTATAGAGTTGATTGGATTG (p.Asp711TyrfsTer21) c.2309_2310insGTATAGAGTTGATTGGATTG (p.Asp771TyrfsTer21) c.1976_1977insGTATAGAGTTGATTGGATTG (p.Asp660TyrfsTer21) | |
| 7 | g.117592387A= | CA1737395043 | CFTR | c.2220A= (p.Pro740=) c.*1934A= (n.*1934A=) c.2037A= (p.Pro679=) c.*520A= (n.*520A=) c.*2044A= (n.*2044A=) c.1794A= (p.Pro598=) c.1402-10439A= (n.1402-10439A=) c.2130A= (p.Pro710=) c.2310A= (p.Pro770=) c.1977A= (p.Pro659=) | |
| 7 | g.117592387A>C | CA457449471 | CFTR | c.2220A>C (p.Pro740=) c.*1934A>C (n.*1934A>C) c.2037A>C (p.Pro679=) c.*520A>C (n.*520A>C) c.*2044A>C (n.*2044A>C) c.1794A>C (p.Pro598=) c.1402-10439A>C (n.1402-10439A>C) c.2130A>C (p.Pro710=) c.2310A>C (p.Pro770=) c.1977A>C (p.Pro659=) | |
| 7 | g.117592387A>G | CA457449473 | CFTR | c.2220A>G (p.Pro740=) c.*1934A>G (n.*1934A>G) c.2037A>G (p.Pro679=) c.*520A>G (n.*520A>G) c.*2044A>G (n.*2044A>G) c.1794A>G (p.Pro598=) c.1402-10439A>G (n.1402-10439A>G) c.2130A>G (p.Pro710=) c.2310A>G (p.Pro770=) c.1977A>G (p.Pro659=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |