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.117592369_117592371del | CA2684619358 | CFTR | c.2202_2204del (p.Arg735del) c.*1916_*1918del (n.*1916_*1918del) c.2019_2021del (p.Arg674del) c.*502_*504del (n.*502_*504del) c.*2026_*2028del (n.*2026_*2028del) c.1776_1778del (p.Arg593del) c.1402-10457_1402-10455del (n.1402-10457_1402-10455del) c.2112_2114del (p.Arg705del) c.2292_2294del (p.Arg765del) c.1959_1961del (p.Arg654del) | gnomAD v4 |
| 7 | g.117592368G>A | CA368980371 | CFTR | c.2201G>A (p.Arg734Lys) c.*1915G>A (n.*1915G>A) c.2018G>A (p.Arg673Lys) c.*501G>A (n.*501G>A) c.*2025G>A (n.*2025G>A) c.1775G>A (p.Arg592Lys) c.1402-10458G>A (n.1402-10458G>A) c.2111G>A (p.Arg704Lys) c.2291G>A (p.Arg764Lys) c.1958G>A (p.Arg653Lys) | |
| 7 | g.117592368G>C | CA368980373 | CFTR | c.2201G>C (p.Arg734Thr) c.*1915G>C (n.*1915G>C) c.2018G>C (p.Arg673Thr) c.*501G>C (n.*501G>C) c.*2025G>C (n.*2025G>C) c.1775G>C (p.Arg592Thr) c.1402-10458G>C (n.1402-10458G>C) c.2111G>C (p.Arg704Thr) c.2291G>C (p.Arg764Thr) c.1958G>C (p.Arg653Thr) | |
| 7 | g.117592368G>T | CA368980375 | CFTR | c.2201G>T (p.Arg734Ile) c.*1915G>T (n.*1915G>T) c.2018G>T (p.Arg673Ile) c.*501G>T (n.*501G>T) c.*2025G>T (n.*2025G>T) c.1775G>T (p.Arg592Ile) c.1402-10458G>T (n.1402-10458G>T) c.2111G>T (p.Arg704Ile) c.2291G>T (p.Arg764Ile) c.1958G>T (p.Arg653Ile) | |
| 7 | g.117592368_117592369delinsGA | CA1737395000 | CFTR | c.2201_2202delinsGA (p.Arg734=) c.*1915_*1916delinsGA (n.*1915_*1916delinsGA) c.2018_2019delinsGA (p.Arg673=) c.*501_*502delinsGA (n.*501_*502delinsGA) c.*2025_*2026delinsGA (n.*2025_*2026delinsGA) c.1775_1776delinsGA (p.Arg592=) c.1402-10458_1402-10457delinsGA (n.1402-10458_1402-10457delinsGA) c.2111_2112delinsGA (p.Arg704=) c.2291_2292delinsGA (p.Arg764=) c.1958_1959delinsGA (p.Arg653=) | |
| 7 | g.117592369A>C | CA368980378 | CFTR | c.2202A>C (p.Arg734Ser) c.*1916A>C (n.*1916A>C) c.2019A>C (p.Arg673Ser) c.*502A>C (n.*502A>C) c.*2026A>C (n.*2026A>C) c.1776A>C (p.Arg592Ser) c.1402-10457A>C (n.1402-10457A>C) c.2112A>C (p.Arg704Ser) c.2292A>C (p.Arg764Ser) c.1959A>C (p.Arg653Ser) | |
| 7 | g.117592369A>G | CA457449423 | CFTR | c.2202A>G (p.Arg734=) c.*1916A>G (n.*1916A>G) c.2019A>G (p.Arg673=) c.*502A>G (n.*502A>G) c.*2026A>G (n.*2026A>G) c.1776A>G (p.Arg592=) c.1402-10457A>G (n.1402-10457A>G) c.2112A>G (p.Arg704=) c.2292A>G (p.Arg764=) c.1959A>G (p.Arg653=) | ClinVar |
| 7 | g.117592369A>T | CA368980380 | CFTR | c.2202A>T (p.Arg734Ser) c.*1916A>T (n.*1916A>T) c.2019A>T (p.Arg673Ser) c.*502A>T (n.*502A>T) c.*2026A>T (n.*2026A>T) c.1776A>T (p.Arg592Ser) c.1402-10457A>T (n.1402-10457A>T) c.2112A>T (p.Arg704Ser) c.2292A>T (p.Arg764Ser) c.1959A>T (p.Arg653Ser) | |
| 7 | g.117592370del | CA326767 | CFTR | c.2203del (p.Arg735GlyfsTer4) c.*1917del (n.*1917del) c.2020del (p.Arg674GlyfsTer4) c.*503del (n.*503del) c.*2027del (n.*2027del) c.1777del (p.Arg593GlyfsTer4) c.1402-10456del (n.1402-10456del) c.2113del (p.Arg705GlyfsTer4) c.2293del (p.Arg765GlyfsTer4) c.1960del (p.Arg654GlyfsTer4) | ClinVar dbSNP |
| 7 | g.117592370A>C | CA457449427 | CFTR | c.2203A>C (p.Arg735=) c.*1917A>C (n.*1917A>C) c.2020A>C (p.Arg674=) c.*503A>C (n.*503A>C) c.*2027A>C (n.*2027A>C) c.1777A>C (p.Arg593=) c.1402-10456A>C (n.1402-10456A>C) c.2113A>C (p.Arg705=) c.2293A>C (p.Arg765=) c.1960A>C (p.Arg654=) | |
| 7 | g.117592370A>G | CA368980385 | CFTR | c.2203A>G (p.Arg735Gly) c.*1917A>G (n.*1917A>G) c.2020A>G (p.Arg674Gly) c.*503A>G (n.*503A>G) c.*2027A>G (n.*2027A>G) c.1777A>G (p.Arg593Gly) c.1402-10456A>G (n.1402-10456A>G) c.2113A>G (p.Arg705Gly) c.2293A>G (p.Arg765Gly) c.1960A>G (p.Arg654Gly) | |
| 7 | g.117592370A>T | CA368980387 | CFTR | c.2203A>T (p.Arg735Trp) c.*1917A>T (n.*1917A>T) c.2020A>T (p.Arg674Trp) c.*503A>T (n.*503A>T) c.*2027A>T (n.*2027A>T) c.1777A>T (p.Arg593Trp) c.1402-10456A>T (n.1402-10456A>T) c.2113A>T (p.Arg705Trp) c.2293A>T (p.Arg765Trp) c.1960A>T (p.Arg654Trp) | |
| 7 | g.117592370_117592371del | CA2684619359 | CFTR | c.2203_2204del (p.Arg735AlafsTer8) c.*1917_*1918del (n.*1917_*1918del) c.2020_2021del (p.Arg674AlafsTer8) c.*503_*504del (n.*503_*504del) c.*2027_*2028del (n.*2027_*2028del) c.1777_1778del (p.Arg593AlafsTer8) c.1402-10456_1402-10455del (n.1402-10456_1402-10455del) c.2113_2114del (p.Arg705AlafsTer8) c.2293_2294del (p.Arg765AlafsTer8) c.1960_1961del (p.Arg654AlafsTer8) | gnomAD v4 |
| 7 | g.117592371G>A | CA326768 | CFTR | c.2204G>A (p.Arg735Lys) c.*1918G>A (n.*1918G>A) c.2021G>A (p.Arg674Lys) c.*504G>A (n.*504G>A) c.*2028G>A (n.*2028G>A) c.1778G>A (p.Arg593Lys) c.1402-10455G>A (n.1402-10455G>A) c.2114G>A (p.Arg705Lys) c.2294G>A (p.Arg765Lys) c.1961G>A (p.Arg654Lys) | ClinVar dbSNP |
| 7 | g.117592371G>C | CA368980390 | CFTR | c.2204G>C (p.Arg735Thr) c.*1918G>C (n.*1918G>C) c.2021G>C (p.Arg674Thr) c.*504G>C (n.*504G>C) c.*2028G>C (n.*2028G>C) c.1778G>C (p.Arg593Thr) c.1402-10455G>C (n.1402-10455G>C) c.2114G>C (p.Arg705Thr) c.2294G>C (p.Arg765Thr) c.1961G>C (p.Arg654Thr) | |
| 7 | g.117592371G= | CA1737395010 | CFTR | c.2204G= (p.Arg735=) c.*1918G= (n.*1918G=) c.2021G= (p.Arg674=) c.*504G= (n.*504G=) c.*2028G= (n.*2028G=) c.1778G= (p.Arg593=) c.1402-10455G= (n.1402-10455G=) c.2114G= (p.Arg705=) c.2294G= (p.Arg765=) c.1961G= (p.Arg654=) | |
| 7 | g.117592371G>T | CA368980393 | CFTR | c.2204G>T (p.Arg735Met) c.*1918G>T (n.*1918G>T) c.2021G>T (p.Arg674Met) c.*504G>T (n.*504G>T) c.*2028G>T (n.*2028G>T) c.1778G>T (p.Arg593Met) c.1402-10455G>T (n.1402-10455G>T) c.2114G>T (p.Arg705Met) c.2294G>T (p.Arg765Met) c.1961G>T (p.Arg654Met) | gnomAD v4 |
| 7 | g.117592372G>A | CA457449430 | CFTR | c.2205G>A (p.Arg735=) c.*1919G>A (n.*1919G>A) c.2022G>A (p.Arg674=) c.*505G>A (n.*505G>A) c.*2029G>A (n.*2029G>A) c.1779G>A (p.Arg593=) c.1402-10454G>A (n.1402-10454G>A) c.2115G>A (p.Arg705=) c.2295G>A (p.Arg765=) c.1962G>A (p.Arg654=) | |
| 7 | g.117592372G>C | CA368980397 | CFTR | c.2205G>C (p.Arg735Ser) c.*1919G>C (n.*1919G>C) c.2022G>C (p.Arg674Ser) c.*505G>C (n.*505G>C) c.*2029G>C (n.*2029G>C) c.1779G>C (p.Arg593Ser) c.1402-10454G>C (n.1402-10454G>C) c.2115G>C (p.Arg705Ser) c.2295G>C (p.Arg765Ser) c.1962G>C (p.Arg654Ser) | ClinVar dbSNP |
| 7 | g.117592372G>T | CA368980399 | CFTR | c.2205G>T (p.Arg735Ser) c.*1919G>T (n.*1919G>T) c.2022G>T (p.Arg674Ser) c.*505G>T (n.*505G>T) c.*2029G>T (n.*2029G>T) c.1779G>T (p.Arg593Ser) c.1402-10454G>T (n.1402-10454G>T) c.2115G>T (p.Arg705Ser) c.2295G>T (p.Arg765Ser) c.1962G>T (p.Arg654Ser) | |
| 7 | g.117592373C>A | CA368980400 | CFTR | c.2206C>A (p.Leu736Met) c.*1920C>A (n.*1920C>A) c.2023C>A (p.Leu675Met) c.*506C>A (n.*506C>A) c.*2030C>A (n.*2030C>A) c.1780C>A (p.Leu594Met) c.1402-10453C>A (n.1402-10453C>A) c.2116C>A (p.Leu706Met) c.2296C>A (p.Leu766Met) c.1963C>A (p.Leu655Met) | |
| 7 | g.117592373C= | CA1737395012 | CFTR | c.2206C= (p.Leu736=) c.*1920C= (n.*1920C=) c.2023C= (p.Leu675=) c.*506C= (n.*506C=) c.*2030C= (n.*2030C=) c.1780C= (p.Leu594=) c.1402-10453C= (n.1402-10453C=) c.2116C= (p.Leu706=) c.2296C= (p.Leu766=) c.1963C= (p.Leu655=) | |
| 7 | g.117592373C>G | CA368980402 | CFTR | c.2206C>G (p.Leu736Val) c.*1920C>G (n.*1920C>G) c.2023C>G (p.Leu675Val) c.*506C>G (n.*506C>G) c.*2030C>G (n.*2030C>G) c.1780C>G (p.Leu594Val) c.1402-10453C>G (n.1402-10453C>G) c.2116C>G (p.Leu706Val) c.2296C>G (p.Leu766Val) c.1963C>G (p.Leu655Val) | |
| 7 | g.117592373C>T | CA457449433 | CFTR | c.2206C>T (p.Leu736=) c.*1920C>T (n.*1920C>T) c.2023C>T (p.Leu675=) c.*506C>T (n.*506C>T) c.*2030C>T (n.*2030C>T) c.1780C>T (p.Leu594=) c.1402-10453C>T (n.1402-10453C>T) c.2116C>T (p.Leu706=) c.2296C>T (p.Leu766=) c.1963C>T (p.Leu655=) | dbSNP gnomAD v4 |
| 7 | g.117592374T>A | CA368980405 | CFTR | c.2207T>A (p.Leu736Gln) c.*1921T>A (n.*1921T>A) c.2024T>A (p.Leu675Gln) c.*507T>A (n.*507T>A) c.*2031T>A (n.*2031T>A) c.1781T>A (p.Leu594Gln) c.1402-10452T>A (n.1402-10452T>A) c.2117T>A (p.Leu706Gln) c.2297T>A (p.Leu766Gln) c.1964T>A (p.Leu655Gln) | |
| 7 | g.117592374T>C | CA368980407 | CFTR | c.2207T>C (p.Leu736Pro) c.*1921T>C (n.*1921T>C) c.2024T>C (p.Leu675Pro) c.*507T>C (n.*507T>C) c.*2031T>C (n.*2031T>C) c.1781T>C (p.Leu594Pro) c.1402-10452T>C (n.1402-10452T>C) c.2117T>C (p.Leu706Pro) c.2297T>C (p.Leu766Pro) c.1964T>C (p.Leu655Pro) | |
| 7 | g.117592374T>G | CA368980409 | CFTR | c.2207T>G (p.Leu736Arg) c.*1921T>G (n.*1921T>G) c.2024T>G (p.Leu675Arg) c.*507T>G (n.*507T>G) c.*2031T>G (n.*2031T>G) c.1781T>G (p.Leu594Arg) c.1402-10452T>G (n.1402-10452T>G) c.2117T>G (p.Leu706Arg) c.2297T>G (p.Leu766Arg) c.1964T>G (p.Leu655Arg) | |
| 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=) |