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.117592393T>A | CA457449485 | CFTR | c.2226T>A (p.Ser742=) c.*1940T>A (n.*1940T>A) c.2043T>A (p.Ser681=) c.*526T>A (n.*526T>A) c.*2050T>A (n.*2050T>A) c.1800T>A (p.Ser600=) c.1402-10433T>A (n.1402-10433T>A) c.2136T>A (p.Ser712=) c.2316T>A (p.Ser772=) c.1983T>A (p.Ser661=) | |
| 7 | g.117592393T>C | CA457449486 | CFTR | c.2226T>C (p.Ser742=) c.*1940T>C (n.*1940T>C) c.2043T>C (p.Ser681=) c.*526T>C (n.*526T>C) c.*2050T>C (n.*2050T>C) c.1800T>C (p.Ser600=) c.1402-10433T>C (n.1402-10433T>C) c.2136T>C (p.Ser712=) c.2316T>C (p.Ser772=) c.1983T>C (p.Ser661=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592393T>G | CA457449487 | CFTR | c.2226T>G (p.Ser742=) c.*1940T>G (n.*1940T>G) c.2043T>G (p.Ser681=) c.*526T>G (n.*526T>G) c.*2050T>G (n.*2050T>G) c.1800T>G (p.Ser600=) c.1402-10433T>G (n.1402-10433T>G) c.2136T>G (p.Ser712=) c.2316T>G (p.Ser772=) c.1983T>G (p.Ser661=) | |
| 7 | g.117592394G>A | CA164948004 | CFTR | c.2227G>A (p.Glu743Lys) c.*1941G>A (n.*1941G>A) c.2044G>A (p.Glu682Lys) c.*527G>A (n.*527G>A) c.*2051G>A (n.*2051G>A) c.1801G>A (p.Glu601Lys) c.1402-10432G>A (n.1402-10432G>A) c.2137G>A (p.Glu713Lys) c.2317G>A (p.Glu773Lys) c.1984G>A (p.Glu662Lys) | dbSNP COSMIC |
| 7 | g.117592394G>C | CA368980494 | CFTR | c.2227G>C (p.Glu743Gln) c.*1941G>C (n.*1941G>C) c.2044G>C (p.Glu682Gln) c.*527G>C (n.*527G>C) c.*2051G>C (n.*2051G>C) c.1801G>C (p.Glu601Gln) c.1402-10432G>C (n.1402-10432G>C) c.2137G>C (p.Glu713Gln) c.2317G>C (p.Glu773Gln) c.1984G>C (p.Glu662Gln) | gnomAD v4 |
| 7 | g.117592394G= | CA1737395050 | CFTR | c.2227G= (p.Glu743=) c.*1941G= (n.*1941G=) c.2044G= (p.Glu682=) c.*527G= (n.*527G=) c.*2051G= (n.*2051G=) c.1801G= (p.Glu601=) c.1402-10432G= (n.1402-10432G=) c.2137G= (p.Glu713=) c.2317G= (p.Glu773=) c.1984G= (p.Glu662=) | |
| 7 | g.117592394G>T | CA368980496 | CFTR | c.2227G>T (p.Glu743Ter) c.*1941G>T (n.*1941G>T) c.2044G>T (p.Glu682Ter) c.*527G>T (n.*527G>T) c.*2051G>T (n.*2051G>T) c.1801G>T (p.Glu601Ter) c.1402-10432G>T (n.1402-10432G>T) c.2137G>T (p.Glu713Ter) c.2317G>T (p.Glu773Ter) c.1984G>T (p.Glu662Ter) | |
| 7 | g.117592395A>C | CA368980506 | CFTR | c.2228A>C (p.Glu743Ala) c.*1942A>C (n.*1942A>C) c.2045A>C (p.Glu682Ala) c.*528A>C (n.*528A>C) c.*2052A>C (n.*2052A>C) c.1802A>C (p.Glu601Ala) c.1402-10431A>C (n.1402-10431A>C) c.2138A>C (p.Glu713Ala) c.2318A>C (p.Glu773Ala) c.1985A>C (p.Glu662Ala) | |
| 7 | g.117592395A>G | CA368980501 | CFTR | c.2228A>G (p.Glu743Gly) c.*1942A>G (n.*1942A>G) c.2045A>G (p.Glu682Gly) c.*528A>G (n.*528A>G) c.*2052A>G (n.*2052A>G) c.1802A>G (p.Glu601Gly) c.1402-10431A>G (n.1402-10431A>G) c.2138A>G (p.Glu713Gly) c.2318A>G (p.Glu773Gly) c.1985A>G (p.Glu662Gly) | |
| 7 | g.117592395A>T | CA368980504 | CFTR | c.2228A>T (p.Glu743Val) c.*1942A>T (n.*1942A>T) c.2045A>T (p.Glu682Val) c.*528A>T (n.*528A>T) c.*2052A>T (n.*2052A>T) c.1802A>T (p.Glu601Val) c.1402-10431A>T (n.1402-10431A>T) c.2138A>T (p.Glu713Val) c.2318A>T (p.Glu773Val) c.1985A>T (p.Glu662Val) | |
| 7 | g.117592396G>A | CA457449491 | CFTR | c.2229G>A (p.Glu743=) c.*1943G>A (n.*1943G>A) c.2046G>A (p.Glu682=) c.*529G>A (n.*529G>A) c.*2053G>A (n.*2053G>A) c.1803G>A (p.Glu601=) c.1402-10430G>A (n.1402-10430G>A) c.2139G>A (p.Glu713=) c.2319G>A (p.Glu773=) c.1986G>A (p.Glu662=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117592396G>C | CA368980509 | CFTR | c.2229G>C (p.Glu743Asp) c.*1943G>C (n.*1943G>C) c.2046G>C (p.Glu682Asp) c.*529G>C (n.*529G>C) c.*2053G>C (n.*2053G>C) c.1803G>C (p.Glu601Asp) c.1402-10430G>C (n.1402-10430G>C) c.2139G>C (p.Glu713Asp) c.2319G>C (p.Glu773Asp) c.1986G>C (p.Glu662Asp) | |
| 7 | g.117592396G= | CA1737395053 | CFTR | c.2229G= (p.Glu743=) c.*1943G= (n.*1943G=) c.2046G= (p.Glu682=) c.*529G= (n.*529G=) c.*2053G= (n.*2053G=) c.1803G= (p.Glu601=) c.1402-10430G= (n.1402-10430G=) c.2139G= (p.Glu713=) c.2319G= (p.Glu773=) c.1986G= (p.Glu662=) | |
| 7 | g.117592396G>T | CA368980511 | CFTR | c.2229G>T (p.Glu743Asp) c.*1943G>T (n.*1943G>T) c.2046G>T (p.Glu682Asp) c.*529G>T (n.*529G>T) c.*2053G>T (n.*2053G>T) c.1803G>T (p.Glu601Asp) c.1402-10430G>T (n.1402-10430G>T) c.2139G>T (p.Glu713Asp) c.2319G>T (p.Glu773Asp) c.1986G>T (p.Glu662Asp) | |
| 7 | g.117592397C>A | CA368980514 | CFTR | c.2230C>A (p.Gln744Lys) c.*1944C>A (n.*1944C>A) c.2047C>A (p.Gln683Lys) c.*530C>A (n.*530C>A) c.*2054C>A (n.*2054C>A) c.1804C>A (p.Gln602Lys) c.1402-10429C>A (n.1402-10429C>A) c.2140C>A (p.Gln714Lys) c.2320C>A (p.Gln774Lys) c.1987C>A (p.Gln663Lys) | |
| 7 | g.117592397C>G | CA368980516 | CFTR | c.2230C>G (p.Gln744Glu) c.*1944C>G (n.*1944C>G) c.2047C>G (p.Gln683Glu) c.*530C>G (n.*530C>G) c.*2054C>G (n.*2054C>G) c.1804C>G (p.Gln602Glu) c.1402-10429C>G (n.1402-10429C>G) c.2140C>G (p.Gln714Glu) c.2320C>G (p.Gln774Glu) c.1987C>G (p.Gln663Glu) | |
| 7 | g.117592397C>T | CA368980518 | CFTR | c.2230C>T (p.Gln744Ter) c.*1944C>T (n.*1944C>T) c.2047C>T (p.Gln683Ter) c.*530C>T (n.*530C>T) c.*2054C>T (n.*2054C>T) c.1804C>T (p.Gln602Ter) c.1402-10429C>T (n.1402-10429C>T) c.2140C>T (p.Gln714Ter) c.2320C>T (p.Gln774Ter) c.1987C>T (p.Gln663Ter) | |
| 7 | g.117592398A= | CA1737395055 | CFTR | c.2231A= (p.Gln744=) c.*1945A= (n.*1945A=) c.2048A= (p.Gln683=) c.*531A= (n.*531A=) c.*2055A= (n.*2055A=) c.1805A= (p.Gln602=) c.1402-10428A= (n.1402-10428A=) c.2141A= (p.Gln714=) c.2321A= (p.Gln774=) c.1988A= (p.Gln663=) | |
| 7 | g.117592398A>C | CA368980519 | CFTR | c.2231A>C (p.Gln744Pro) c.*1945A>C (n.*1945A>C) c.2048A>C (p.Gln683Pro) c.*531A>C (n.*531A>C) c.*2055A>C (n.*2055A>C) c.1805A>C (p.Gln602Pro) c.1402-10428A>C (n.1402-10428A>C) c.2141A>C (p.Gln714Pro) c.2321A>C (p.Gln774Pro) c.1988A>C (p.Gln663Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592398A>G | CA368980520 | CFTR | c.2231A>G (p.Gln744Arg) c.*1945A>G (n.*1945A>G) c.2048A>G (p.Gln683Arg) c.*531A>G (n.*531A>G) c.*2055A>G (n.*2055A>G) c.1805A>G (p.Gln602Arg) c.1402-10428A>G (n.1402-10428A>G) c.2141A>G (p.Gln714Arg) c.2321A>G (p.Gln774Arg) c.1988A>G (p.Gln663Arg) | ClinVar gnomAD v4 |
| 7 | g.117592398A>T | CA368980522 | CFTR | c.2231A>T (p.Gln744Leu) c.*1945A>T (n.*1945A>T) c.2048A>T (p.Gln683Leu) c.*531A>T (n.*531A>T) c.*2055A>T (n.*2055A>T) c.1805A>T (p.Gln602Leu) c.1402-10428A>T (n.1402-10428A>T) c.2141A>T (p.Gln714Leu) c.2321A>T (p.Gln774Leu) c.1988A>T (p.Gln663Leu) | |
| 7 | g.117592399G>A | CA457449498 | CFTR | c.2232G>A (p.Gln744=) c.*1946G>A (n.*1946G>A) c.2049G>A (p.Gln683=) c.*532G>A (n.*532G>A) c.*2056G>A (n.*2056G>A) c.1806G>A (p.Gln602=) c.1402-10427G>A (n.1402-10427G>A) c.2142G>A (p.Gln714=) c.2322G>A (p.Gln774=) c.1989G>A (p.Gln663=) | |
| 7 | g.117592399G>C | CA368980525 | CFTR | c.2232G>C (p.Gln744His) c.*1946G>C (n.*1946G>C) c.2049G>C (p.Gln683His) c.*532G>C (n.*532G>C) c.*2056G>C (n.*2056G>C) c.1806G>C (p.Gln602His) c.1402-10427G>C (n.1402-10427G>C) c.2142G>C (p.Gln714His) c.2322G>C (p.Gln774His) c.1989G>C (p.Gln663His) | |
| 7 | g.117592399G>T | CA368980527 | CFTR | c.2232G>T (p.Gln744His) c.*1946G>T (n.*1946G>T) c.2049G>T (p.Gln683His) c.*532G>T (n.*532G>T) c.*2056G>T (n.*2056G>T) c.1806G>T (p.Gln602His) c.1402-10427G>T (n.1402-10427G>T) c.2142G>T (p.Gln714His) c.2322G>T (p.Gln774His) c.1989G>T (p.Gln663His) | |
| 7 | g.117592400G>A | CA368980530 | CFTR | c.2233G>A (p.Gly745Arg) c.*1947G>A (n.*1947G>A) c.2050G>A (p.Gly684Arg) c.*533G>A (n.*533G>A) c.*2057G>A (n.*2057G>A) c.1807G>A (p.Gly603Arg) c.1402-10426G>A (n.1402-10426G>A) c.2143G>A (p.Gly715Arg) c.2323G>A (p.Gly775Arg) c.1990G>A (p.Gly664Arg) | gnomAD v4 |
| 7 | g.117592400G>C | CA368980532 | CFTR | c.2233G>C (p.Gly745Arg) c.*1947G>C (n.*1947G>C) c.2050G>C (p.Gly684Arg) c.*533G>C (n.*533G>C) c.*2057G>C (n.*2057G>C) c.1807G>C (p.Gly603Arg) c.1402-10426G>C (n.1402-10426G>C) c.2143G>C (p.Gly715Arg) c.2323G>C (p.Gly775Arg) c.1990G>C (p.Gly664Arg) | |
| 7 | g.117592400G= | CA1737395058 | CFTR | c.2233G= (p.Gly745=) c.*1947G= (n.*1947G=) c.2050G= (p.Gly684=) c.*533G= (n.*533G=) c.*2057G= (n.*2057G=) c.1807G= (p.Gly603=) c.1402-10426G= (n.1402-10426G=) c.2143G= (p.Gly715=) c.2323G= (p.Gly775=) c.1990G= (p.Gly664=) | |
| 7 | g.117592400G>T | CA326772 | CFTR | c.2233G>T (p.Gly745Ter) c.*1947G>T (n.*1947G>T) c.2050G>T (p.Gly684Ter) c.*533G>T (n.*533G>T) c.*2057G>T (n.*2057G>T) c.1807G>T (p.Gly603Ter) c.1402-10426G>T (n.1402-10426G>T) c.2143G>T (p.Gly715Ter) c.2323G>T (p.Gly775Ter) c.1990G>T (p.Gly664Ter) | ClinVar dbSNP |
| 7 | g.117592401G>A | CA368980536 | CFTR | c.2234G>A (p.Gly745Glu) c.*1948G>A (n.*1948G>A) c.2051G>A (p.Gly684Glu) c.*534G>A (n.*534G>A) c.*2058G>A (n.*2058G>A) c.1808G>A (p.Gly603Glu) c.1402-10425G>A (n.1402-10425G>A) c.2144G>A (p.Gly715Glu) c.2324G>A (p.Gly775Glu) c.1991G>A (p.Gly664Glu) | gnomAD v4 |
| 7 | g.117592401G>C | CA368980540 | CFTR | c.2234G>C (p.Gly745Ala) c.*1948G>C (n.*1948G>C) c.2051G>C (p.Gly684Ala) c.*534G>C (n.*534G>C) c.*2058G>C (n.*2058G>C) c.1808G>C (p.Gly603Ala) c.1402-10425G>C (n.1402-10425G>C) c.2144G>C (p.Gly715Ala) c.2324G>C (p.Gly775Ala) c.1991G>C (p.Gly664Ala) | |
| 7 | g.117592401G>T | CA368980537 | CFTR | c.2234G>T (p.Gly745Val) c.*1948G>T (n.*1948G>T) c.2051G>T (p.Gly684Val) c.*534G>T (n.*534G>T) c.*2058G>T (n.*2058G>T) c.1808G>T (p.Gly603Val) c.1402-10425G>T (n.1402-10425G>T) c.2144G>T (p.Gly715Val) c.2324G>T (p.Gly775Val) c.1991G>T (p.Gly664Val) | |
| 7 | g.117592402A>C | CA457449503 | CFTR | c.2235A>C (p.Gly745=) c.*1949A>C (n.*1949A>C) c.2052A>C (p.Gly684=) c.*535A>C (n.*535A>C) c.*2059A>C (n.*2059A>C) c.1809A>C (p.Gly603=) c.1402-10424A>C (n.1402-10424A>C) c.2145A>C (p.Gly715=) c.2325A>C (p.Gly775=) c.1992A>C (p.Gly664=) | |
| 7 | g.117592402A>G | CA457449504 | CFTR | c.2235A>G (p.Gly745=) c.*1949A>G (n.*1949A>G) c.2052A>G (p.Gly684=) c.*535A>G (n.*535A>G) c.*2059A>G (n.*2059A>G) c.1809A>G (p.Gly603=) c.1402-10424A>G (n.1402-10424A>G) c.2145A>G (p.Gly715=) c.2325A>G (p.Gly775=) c.1992A>G (p.Gly664=) | ClinVar |
| 7 | g.117592402A>T | CA457449505 | CFTR | c.2235A>T (p.Gly745=) c.*1949A>T (n.*1949A>T) c.2052A>T (p.Gly684=) c.*535A>T (n.*535A>T) c.*2059A>T (n.*2059A>T) c.1809A>T (p.Gly603=) c.1402-10424A>T (n.1402-10424A>T) c.2145A>T (p.Gly715=) c.2325A>T (p.Gly775=) c.1992A>T (p.Gly664=) | |
| 7 | g.117592403G>A | CA368980542 | CFTR | c.2236G>A (p.Glu746Lys) c.*1950G>A (n.*1950G>A) c.2053G>A (p.Glu685Lys) c.*536G>A (n.*536G>A) c.*2060G>A (n.*2060G>A) c.1810G>A (p.Glu604Lys) c.1402-10423G>A (n.1402-10423G>A) c.2146G>A (p.Glu716Lys) c.2326G>A (p.Glu776Lys) c.1993G>A (p.Glu665Lys) | |
| 7 | g.117592403G>C | CA368980545 | CFTR | c.2236G>C (p.Glu746Gln) c.*1950G>C (n.*1950G>C) c.2053G>C (p.Glu685Gln) c.*536G>C (n.*536G>C) c.*2060G>C (n.*2060G>C) c.1810G>C (p.Glu604Gln) c.1402-10423G>C (n.1402-10423G>C) c.2146G>C (p.Glu716Gln) c.2326G>C (p.Glu776Gln) c.1993G>C (p.Glu665Gln) | |
| 7 | g.117592403G>T | CA368980547 | CFTR | c.2236G>T (p.Glu746Ter) c.*1950G>T (n.*1950G>T) c.2053G>T (p.Glu685Ter) c.*536G>T (n.*536G>T) c.*2060G>T (n.*2060G>T) c.1810G>T (p.Glu604Ter) c.1402-10423G>T (n.1402-10423G>T) c.2146G>T (p.Glu716Ter) c.2326G>T (p.Glu776Ter) c.1993G>T (p.Glu665Ter) | |
| 7 | g.117592403_117592413delinsAAAAATC | CA2695208514 | CFTR | c.2236_2246delinsAAAAATC (p.Glu746LysfsTer8) c.*1950_*1960delinsAAAAATC (n.*1950_*1960delinsAAAAATC) c.2053_2063delinsAAAAATC (p.Glu685LysfsTer8) c.*536_*546delinsAAAAATC (n.*536_*546delinsAAAAATC) c.*2060_*2070delinsAAAAATC (n.*2060_*2070delinsAAAAATC) c.1810_1820delinsAAAAATC (p.Glu604LysfsTer8) c.1402-10423_1402-10413delinsAAAAATC (n.1402-10423_1402-10413delinsAAAAATC) c.2146_2156delinsAAAAATC (p.Glu716LysfsTer8) c.2326_2336delinsAAAAATC (p.Glu776LysfsTer8) c.1993_2003delinsAAAAATC (p.Glu665LysfsTer8) | |
| 7 | g.117592404_117592414del | CA2695208515 | CFTR | c.2237_2247del (p.Glu746AlafsTer29) c.*1951_*1961del (n.*1951_*1961del) c.2054_2064del (p.Glu685AlafsTer29) c.*537_*547del (n.*537_*547del) c.*2061_*2071del (n.*2061_*2071del) c.1811_1821del (p.Glu604AlafsTer29) c.1402-10422_1402-10412del (n.1402-10422_1402-10412del) c.2147_2157del (p.Glu716AlafsTer29) c.2327_2337del (p.Glu776AlafsTer29) c.1994_2004del (p.Glu665AlafsTer29) | |
| 7 | g.117592404A>C | CA368980550 | CFTR | c.2237A>C (p.Glu746Ala) c.*1951A>C (n.*1951A>C) c.2054A>C (p.Glu685Ala) c.*537A>C (n.*537A>C) c.*2061A>C (n.*2061A>C) c.1811A>C (p.Glu604Ala) c.1402-10422A>C (n.1402-10422A>C) c.2147A>C (p.Glu716Ala) c.2327A>C (p.Glu776Ala) c.1994A>C (p.Glu665Ala) | |
| 7 | g.117592404A>G | CA368980552 | CFTR | c.2237A>G (p.Glu746Gly) c.*1951A>G (n.*1951A>G) c.2054A>G (p.Glu685Gly) c.*537A>G (n.*537A>G) c.*2061A>G (n.*2061A>G) c.1811A>G (p.Glu604Gly) c.1402-10422A>G (n.1402-10422A>G) c.2147A>G (p.Glu716Gly) c.2327A>G (p.Glu776Gly) c.1994A>G (p.Glu665Gly) | |
| 7 | g.117592404A>T | CA368980554 | CFTR | c.2237A>T (p.Glu746Val) c.*1951A>T (n.*1951A>T) c.2054A>T (p.Glu685Val) c.*537A>T (n.*537A>T) c.*2061A>T (n.*2061A>T) c.1811A>T (p.Glu604Val) c.1402-10422A>T (n.1402-10422A>T) c.2147A>T (p.Glu716Val) c.2327A>T (p.Glu776Val) c.1994A>T (p.Glu665Val) | |
| 7 | g.117592405G>A | CA457449509 | CFTR | c.2238G>A (p.Glu746=) c.*1952G>A (n.*1952G>A) c.2055G>A (p.Glu685=) c.*538G>A (n.*538G>A) c.*2062G>A (n.*2062G>A) c.1812G>A (p.Glu604=) c.1402-10421G>A (n.1402-10421G>A) c.2148G>A (p.Glu716=) c.2328G>A (p.Glu776=) c.1995G>A (p.Glu665=) | dbSNP |
| 7 | g.117592405G>C | CA368980557 | CFTR | c.2238G>C (p.Glu746Asp) c.*1952G>C (n.*1952G>C) c.2055G>C (p.Glu685Asp) c.*538G>C (n.*538G>C) c.*2062G>C (n.*2062G>C) c.1812G>C (p.Glu604Asp) c.1402-10421G>C (n.1402-10421G>C) c.2148G>C (p.Glu716Asp) c.2328G>C (p.Glu776Asp) c.1995G>C (p.Glu665Asp) | ClinVar |
| 7 | g.117592405G= | CA1737395065 | CFTR | c.2238G= (p.Glu746=) c.*1952G= (n.*1952G=) c.2055G= (p.Glu685=) c.*538G= (n.*538G=) c.*2062G= (n.*2062G=) c.1812G= (p.Glu604=) c.1402-10421G= (n.1402-10421G=) c.2148G= (p.Glu716=) c.2328G= (p.Glu776=) c.1995G= (p.Glu665=) | |
| 7 | g.117592405G>T | CA368980559 | CFTR | c.2238G>T (p.Glu746Asp) c.*1952G>T (n.*1952G>T) c.2055G>T (p.Glu685Asp) c.*538G>T (n.*538G>T) c.*2062G>T (n.*2062G>T) c.1812G>T (p.Glu604Asp) c.1402-10421G>T (n.1402-10421G>T) c.2148G>T (p.Glu716Asp) c.2328G>T (p.Glu776Asp) c.1995G>T (p.Glu665Asp) | |
| 7 | g.117592405_117592413delinsGGCGATACT | CA1737395063 | CFTR | c.2238_2246delinsGGCGATACT (p.Glu746=) c.*1952_*1960delinsGGCGATACT (n.*1952_*1960delinsGGCGATACT) c.2055_2063delinsGGCGATACT (p.Glu685=) c.*538_*546delinsGGCGATACT (n.*538_*546delinsGGCGATACT) c.*2062_*2070delinsGGCGATACT (n.*2062_*2070delinsGGCGATACT) c.1812_1820delinsGGCGATACT (p.Glu604=) c.1402-10421_1402-10413delinsGGCGATACT (n.1402-10421_1402-10413delinsGGCGATACT) c.2148_2156delinsGGCGATACT (p.Glu716=) c.2328_2336delinsGGCGATACT (p.Glu776=) c.1995_2003delinsGGCGATACT (p.Glu665=) | |
| 7 | g.117592406G>A | CA368980563 | CFTR | c.2239G>A (p.Ala747Thr) c.*1953G>A (n.*1953G>A) c.2056G>A (p.Ala686Thr) c.*539G>A (n.*539G>A) c.*2063G>A (n.*2063G>A) c.1813G>A (p.Ala605Thr) c.1402-10420G>A (n.1402-10420G>A) c.2149G>A (p.Ala717Thr) c.2329G>A (p.Ala777Thr) c.1996G>A (p.Ala666Thr) | gnomAD v4 |
| 7 | g.117592406G>C | CA368980565 | CFTR | c.2239G>C (p.Ala747Pro) c.*1953G>C (n.*1953G>C) c.2056G>C (p.Ala686Pro) c.*539G>C (n.*539G>C) c.*2063G>C (n.*2063G>C) c.1813G>C (p.Ala605Pro) c.1402-10420G>C (n.1402-10420G>C) c.2149G>C (p.Ala717Pro) c.2329G>C (p.Ala777Pro) c.1996G>C (p.Ala666Pro) |