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.117592289A>C | CA368979844 | CFTR | c.2122A>C (p.Ile708Leu) c.*1836A>C (n.*1836A>C) c.1939A>C (p.Ile647Leu) c.*422A>C (n.*422A>C) c.*1946A>C (n.*1946A>C) c.1696A>C (p.Ile566Leu) c.1402-10537A>C (n.1402-10537A>C) c.2032A>C (p.Ile678Leu) c.2212A>C (p.Ile738Leu) c.1879A>C (p.Ile627Leu) | |
| 7 | g.117592289A>G | CA368979847 | CFTR | c.2122A>G (p.Ile708Val) c.*1836A>G (n.*1836A>G) c.1939A>G (p.Ile647Val) c.*422A>G (n.*422A>G) c.*1946A>G (n.*1946A>G) c.1696A>G (p.Ile566Val) c.1402-10537A>G (n.1402-10537A>G) c.2032A>G (p.Ile678Val) c.2212A>G (p.Ile738Val) c.1879A>G (p.Ile627Val) | COSMIC |
| 7 | g.117592289A>T | CA368979845 | CFTR | c.2122A>T (p.Ile708Leu) c.*1836A>T (n.*1836A>T) c.1939A>T (p.Ile647Leu) c.*422A>T (n.*422A>T) c.*1946A>T (n.*1946A>T) c.1696A>T (p.Ile566Leu) c.1402-10537A>T (n.1402-10537A>T) c.2032A>T (p.Ile678Leu) c.2212A>T (p.Ile738Leu) c.1879A>T (p.Ile627Leu) | |
| 7 | g.117592290T>A | CA368979850 | CFTR | c.2123T>A (p.Ile708Lys) c.*1837T>A (n.*1837T>A) c.1940T>A (p.Ile647Lys) c.*423T>A (n.*423T>A) c.*1947T>A (n.*1947T>A) c.1697T>A (p.Ile566Lys) c.1402-10536T>A (n.1402-10536T>A) c.2033T>A (p.Ile678Lys) c.2213T>A (p.Ile738Lys) c.1880T>A (p.Ile627Lys) | |
| 7 | g.117592290T>C | CA4451144 | CFTR | c.2123T>C (p.Ile708Thr) c.*1837T>C (n.*1837T>C) c.1940T>C (p.Ile647Thr) c.*423T>C (n.*423T>C) c.*1947T>C (n.*1947T>C) c.1697T>C (p.Ile566Thr) c.1402-10536T>C (n.1402-10536T>C) c.2033T>C (p.Ile678Thr) c.2213T>C (p.Ile738Thr) c.1880T>C (p.Ile627Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592290T>G | CA368979859 | CFTR | c.2123T>G (p.Ile708Arg) c.*1837T>G (n.*1837T>G) c.1940T>G (p.Ile647Arg) c.*423T>G (n.*423T>G) c.*1947T>G (n.*1947T>G) c.1697T>G (p.Ile566Arg) c.1402-10536T>G (n.1402-10536T>G) c.2033T>G (p.Ile678Arg) c.2213T>G (p.Ile738Arg) c.1880T>G (p.Ile627Arg) | |
| 7 | g.117592290T= | CA1737394807 | CFTR | c.2123T= (p.Ile708=) c.*1837T= (n.*1837T=) c.1940T= (p.Ile647=) c.*423T= (n.*423T=) c.*1947T= (n.*1947T=) c.1697T= (p.Ile566=) c.1402-10536T= (n.1402-10536T=) c.2033T= (p.Ile678=) c.2213T= (p.Ile738=) c.1880T= (p.Ile627=) | |
| 7 | g.117592291A>C | CA457449061 | CFTR | c.2124A>C (p.Ile708=) c.*1838A>C (n.*1838A>C) c.1941A>C (p.Ile647=) c.*424A>C (n.*424A>C) c.*1948A>C (n.*1948A>C) c.1698A>C (p.Ile566=) c.1402-10535A>C (n.1402-10535A>C) c.2034A>C (p.Ile678=) c.2214A>C (p.Ile738=) c.1881A>C (p.Ile627=) | gnomAD v4 |
| 7 | g.117592291A>G | CA368979862 | CFTR | c.2124A>G (p.Ile708Met) c.*1838A>G (n.*1838A>G) c.1941A>G (p.Ile647Met) c.*424A>G (n.*424A>G) c.*1948A>G (n.*1948A>G) c.1698A>G (p.Ile566Met) c.1402-10535A>G (n.1402-10535A>G) c.2034A>G (p.Ile678Met) c.2214A>G (p.Ile738Met) c.1881A>G (p.Ile627Met) | |
| 7 | g.117592291A>T | CA457449062 | CFTR | c.2124A>T (p.Ile708=) c.*1838A>T (n.*1838A>T) c.1941A>T (p.Ile647=) c.*424A>T (n.*424A>T) c.*1948A>T (n.*1948A>T) c.1698A>T (p.Ile566=) c.1402-10535A>T (n.1402-10535A>T) c.2034A>T (p.Ile678=) c.2214A>T (p.Ile738=) c.1881A>T (p.Ile627=) | ClinVar |
| 7 | g.117592292C>A | CA457449063 | CFTR | c.2125C>A (p.Arg709=) c.*1839C>A (n.*1839C>A) c.1942C>A (p.Arg648=) c.*425C>A (n.*425C>A) c.*1949C>A (n.*1949C>A) c.1699C>A (p.Arg567=) c.1402-10534C>A (n.1402-10534C>A) c.2035C>A (p.Arg679=) c.2215C>A (p.Arg739=) c.1882C>A (p.Arg628=) | |
| 7 | g.117592292C= | CA1737394818 | CFTR | c.2125C= (p.Arg709=) c.*1839C= (n.*1839C=) c.1942C= (p.Arg648=) c.*425C= (n.*425C=) c.*1949C= (n.*1949C=) c.1699C= (p.Arg567=) c.1402-10534C= (n.1402-10534C=) c.2035C= (p.Arg679=) c.2215C= (p.Arg739=) c.1882C= (p.Arg628=) | |
| 7 | g.117592292C>G | CA368979863 | CFTR | c.2125C>G (p.Arg709Gly) c.*1839C>G (n.*1839C>G) c.1942C>G (p.Arg648Gly) c.*425C>G (n.*425C>G) c.*1949C>G (n.*1949C>G) c.1699C>G (p.Arg567Gly) c.1402-10534C>G (n.1402-10534C>G) c.2035C>G (p.Arg679Gly) c.2215C>G (p.Arg739Gly) c.1882C>G (p.Arg628Gly) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592292C>T | CA328093 | CFTR | c.2125C>T (p.Arg709Ter) c.*1839C>T (n.*1839C>T) c.1942C>T (p.Arg648Ter) c.*425C>T (n.*425C>T) c.*1949C>T (n.*1949C>T) c.1699C>T (p.Arg567Ter) c.1402-10534C>T (n.1402-10534C>T) c.2035C>T (p.Arg679Ter) c.2215C>T (p.Arg739Ter) c.1882C>T (p.Arg628Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117592292_117592293delinsCG | CA1737394816 | CFTR | c.2125_2126delinsCG (p.Arg709=) c.*1839_*1840delinsCG (n.*1839_*1840delinsCG) c.1942_1943delinsCG (p.Arg648=) c.*425_*426delinsCG (n.*425_*426delinsCG) c.*1949_*1950delinsCG (n.*1949_*1950delinsCG) c.1699_1700delinsCG (p.Arg567=) c.1402-10534_1402-10533delinsCG (n.1402-10534_1402-10533delinsCG) c.2035_2036delinsCG (p.Arg679=) c.2215_2216delinsCG (p.Arg739=) c.1882_1883delinsCG (p.Arg628=) | |
| 7 | g.117592293del | CA164947854 | CFTR | c.2126del (p.Arg709GlnfsTer13) c.*1840del (n.*1840del) c.1943del (p.Arg648GlnfsTer13) c.*426del (n.*426del) c.*1950del (n.*1950del) c.1700del (p.Arg567GlnfsTer13) c.1402-10533del (n.1402-10533del) c.2036del (p.Arg679GlnfsTer13) c.2216del (p.Arg739GlnfsTer13) c.1883del (p.Arg628GlnfsTer13) | dbSNP |
| 7 | g.117592293G>A | CA326749 | CFTR | c.2126G>A (p.Arg709Gln) c.*1840G>A (n.*1840G>A) c.1943G>A (p.Arg648Gln) c.*426G>A (n.*426G>A) c.*1950G>A (n.*1950G>A) c.1700G>A (p.Arg567Gln) c.1402-10533G>A (n.1402-10533G>A) c.2036G>A (p.Arg679Gln) c.2216G>A (p.Arg739Gln) c.1883G>A (p.Arg628Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117592293G>C | CA368979868 | CFTR | c.2126G>C (p.Arg709Pro) c.*1840G>C (n.*1840G>C) c.1943G>C (p.Arg648Pro) c.*426G>C (n.*426G>C) c.*1950G>C (n.*1950G>C) c.1700G>C (p.Arg567Pro) c.1402-10533G>C (n.1402-10533G>C) c.2036G>C (p.Arg679Pro) c.2216G>C (p.Arg739Pro) c.1883G>C (p.Arg628Pro) | |
| 7 | g.117592293G= | CA1737394826 | CFTR | c.2126G= (p.Arg709=) c.*1840G= (n.*1840G=) c.1943G= (p.Arg648=) c.*426G= (n.*426G=) c.*1950G= (n.*1950G=) c.1700G= (p.Arg567=) c.1402-10533G= (n.1402-10533G=) c.2036G= (p.Arg679=) c.2216G= (p.Arg739=) c.1883G= (p.Arg628=) | |
| 7 | g.117592293G>T | CA368979871 | CFTR | c.2126G>T (p.Arg709Leu) c.*1840G>T (n.*1840G>T) c.1943G>T (p.Arg648Leu) c.*426G>T (n.*426G>T) c.*1950G>T (n.*1950G>T) c.1700G>T (p.Arg567Leu) c.1402-10533G>T (n.1402-10533G>T) c.2036G>T (p.Arg679Leu) c.2216G>T (p.Arg739Leu) c.1883G>T (p.Arg628Leu) | |
| 7 | g.117592294A>C | CA457449064 | CFTR | c.2127A>C (p.Arg709=) c.*1841A>C (n.*1841A>C) c.1944A>C (p.Arg648=) c.*427A>C (n.*427A>C) c.*1951A>C (n.*1951A>C) c.1701A>C (p.Arg567=) c.1402-10532A>C (n.1402-10532A>C) c.2037A>C (p.Arg679=) c.2217A>C (p.Arg739=) c.1884A>C (p.Arg628=) | |
| 7 | g.117592294A>G | CA457449065 | CFTR | c.2127A>G (p.Arg709=) c.*1841A>G (n.*1841A>G) c.1944A>G (p.Arg648=) c.*427A>G (n.*427A>G) c.*1951A>G (n.*1951A>G) c.1701A>G (p.Arg567=) c.1402-10532A>G (n.1402-10532A>G) c.2037A>G (p.Arg679=) c.2217A>G (p.Arg739=) c.1884A>G (p.Arg628=) | ClinVar dbSNP |
| 7 | g.117592294A>T | CA457449066 | CFTR | c.2127A>T (p.Arg709=) c.*1841A>T (n.*1841A>T) c.1944A>T (p.Arg648=) c.*427A>T (n.*427A>T) c.*1951A>T (n.*1951A>T) c.1701A>T (p.Arg567=) c.1402-10532A>T (n.1402-10532A>T) c.2037A>T (p.Arg679=) c.2217A>T (p.Arg739=) c.1884A>T (p.Arg628=) | |
| 7 | g.117592295A= | CA1737394835 | CFTR | c.2128A= (p.Lys710=) c.*1842A= (n.*1842A=) c.1945A= (p.Lys649=) c.*428A= (n.*428A=) c.*1952A= (n.*1952A=) c.1702A= (p.Lys568=) c.1402-10531A= (n.1402-10531A=) c.2038A= (p.Lys680=) c.2218A= (p.Lys740=) c.1885A= (p.Lys629=) | |
| 7 | g.117592295A>C | CA368979887 | CFTR | c.2128A>C (p.Lys710Gln) c.*1842A>C (n.*1842A>C) c.1945A>C (p.Lys649Gln) c.*428A>C (n.*428A>C) c.*1952A>C (n.*1952A>C) c.1702A>C (p.Lys568Gln) c.1402-10531A>C (n.1402-10531A>C) c.2038A>C (p.Lys680Gln) c.2218A>C (p.Lys740Gln) c.1885A>C (p.Lys629Gln) | |
| 7 | g.117592295A>G | CA368979884 | CFTR | c.2128A>G (p.Lys710Glu) c.*1842A>G (n.*1842A>G) c.1945A>G (p.Lys649Glu) c.*428A>G (n.*428A>G) c.*1952A>G (n.*1952A>G) c.1702A>G (p.Lys568Glu) c.1402-10531A>G (n.1402-10531A>G) c.2038A>G (p.Lys680Glu) c.2218A>G (p.Lys740Glu) c.1885A>G (p.Lys629Glu) | |
| 7 | g.117592295A>T | CA325588 | CFTR | c.2128A>T (p.Lys710Ter) c.*1842A>T (n.*1842A>T) c.1945A>T (p.Lys649Ter) c.*428A>T (n.*428A>T) c.*1952A>T (n.*1952A>T) c.1702A>T (p.Lys568Ter) c.1402-10531A>T (n.1402-10531A>T) c.2038A>T (p.Lys680Ter) c.2218A>T (p.Lys740Ter) c.1885A>T (p.Lys629Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592296A>C | CA368979891 | CFTR | c.2129A>C (p.Lys710Thr) c.*1843A>C (n.*1843A>C) c.1946A>C (p.Lys649Thr) c.*429A>C (n.*429A>C) c.*1953A>C (n.*1953A>C) c.1703A>C (p.Lys568Thr) c.1402-10530A>C (n.1402-10530A>C) c.2039A>C (p.Lys680Thr) c.2219A>C (p.Lys740Thr) c.1886A>C (p.Lys629Thr) | |
| 7 | g.117592296A>G | CA368979893 | CFTR | c.2129A>G (p.Lys710Arg) c.*1843A>G (n.*1843A>G) c.1946A>G (p.Lys649Arg) c.*429A>G (n.*429A>G) c.*1953A>G (n.*1953A>G) c.1703A>G (p.Lys568Arg) c.1402-10530A>G (n.1402-10530A>G) c.2039A>G (p.Lys680Arg) c.2219A>G (p.Lys740Arg) c.1886A>G (p.Lys629Arg) | ClinVar dbSNP |
| 7 | g.117592296A>T | CA368979895 | CFTR | c.2129A>T (p.Lys710Ile) c.*1843A>T (n.*1843A>T) c.1946A>T (p.Lys649Ile) c.*429A>T (n.*429A>T) c.*1953A>T (n.*1953A>T) c.1703A>T (p.Lys568Ile) c.1402-10530A>T (n.1402-10530A>T) c.2039A>T (p.Lys680Ile) c.2219A>T (p.Lys740Ile) c.1886A>T (p.Lys629Ile) | |
| 7 | g.117592297A= | CA1737394840 | CFTR | c.2130A= (p.Lys710=) c.*1844A= (n.*1844A=) c.1947A= (p.Lys649=) c.*430A= (n.*430A=) c.*1954A= (n.*1954A=) c.1704A= (p.Lys568=) c.1402-10529A= (n.1402-10529A=) c.2040A= (p.Lys680=) c.2220A= (p.Lys740=) c.1887A= (p.Lys629=) | |
| 7 | g.117592297A>C | CA368979899 | CFTR | c.2130A>C (p.Lys710Asn) c.*1844A>C (n.*1844A>C) c.1947A>C (p.Lys649Asn) c.*430A>C (n.*430A>C) c.*1954A>C (n.*1954A>C) c.1704A>C (p.Lys568Asn) c.1402-10529A>C (n.1402-10529A>C) c.2040A>C (p.Lys680Asn) c.2220A>C (p.Lys740Asn) c.1887A>C (p.Lys629Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117592297A>G | CA457449067 | CFTR | c.2130A>G (p.Lys710=) c.*1844A>G (n.*1844A>G) c.1947A>G (p.Lys649=) c.*430A>G (n.*430A>G) c.*1954A>G (n.*1954A>G) c.1704A>G (p.Lys568=) c.1402-10529A>G (n.1402-10529A>G) c.2040A>G (p.Lys680=) c.2220A>G (p.Lys740=) c.1887A>G (p.Lys629=) | ClinVar |
| 7 | g.117592297A>T | CA368979901 | CFTR | c.2130A>T (p.Lys710Asn) c.*1844A>T (n.*1844A>T) c.1947A>T (p.Lys649Asn) c.*430A>T (n.*430A>T) c.*1954A>T (n.*1954A>T) c.1704A>T (p.Lys568Asn) c.1402-10529A>T (n.1402-10529A>T) c.2040A>T (p.Lys680Asn) c.2220A>T (p.Lys740Asn) c.1887A>T (p.Lys629Asn) | |
| 7 | g.117592298T>A | CA368979910 | CFTR | c.2131T>A (p.Phe711Ile) c.*1845T>A (n.*1845T>A) c.1948T>A (p.Phe650Ile) c.*431T>A (n.*431T>A) c.*1955T>A (n.*1955T>A) c.1705T>A (p.Phe569Ile) c.1402-10528T>A (n.1402-10528T>A) c.2041T>A (p.Phe681Ile) c.2221T>A (p.Phe741Ile) c.1888T>A (p.Phe630Ile) | |
| 7 | g.117592298T>C | CA368979911 | CFTR | c.2131T>C (p.Phe711Leu) c.*1845T>C (n.*1845T>C) c.1948T>C (p.Phe650Leu) c.*431T>C (n.*431T>C) c.*1955T>C (n.*1955T>C) c.1705T>C (p.Phe569Leu) c.1402-10528T>C (n.1402-10528T>C) c.2041T>C (p.Phe681Leu) c.2221T>C (p.Phe741Leu) c.1888T>C (p.Phe630Leu) | ClinVar dbSNP |
| 7 | g.117592298T>G | CA368979912 | CFTR | c.2131T>G (p.Phe711Val) c.*1845T>G (n.*1845T>G) c.1948T>G (p.Phe650Val) c.*431T>G (n.*431T>G) c.*1955T>G (n.*1955T>G) c.1705T>G (p.Phe569Val) c.1402-10528T>G (n.1402-10528T>G) c.2041T>G (p.Phe681Val) c.2221T>G (p.Phe741Val) c.1888T>G (p.Phe630Val) | dbSNP gnomAD v4 |
| 7 | g.117592298T= | CA1737394845 | CFTR | c.2131T= (p.Phe711=) c.*1845T= (n.*1845T=) c.1948T= (p.Phe650=) c.*431T= (n.*431T=) c.*1955T= (n.*1955T=) c.1705T= (p.Phe569=) c.1402-10528T= (n.1402-10528T=) c.2041T= (p.Phe681=) c.2221T= (p.Phe741=) c.1888T= (p.Phe630=) | |
| 7 | g.117592299T>A | CA368979915 | CFTR | c.2132T>A (p.Phe711Tyr) c.*1846T>A (n.*1846T>A) c.1949T>A (p.Phe650Tyr) c.*432T>A (n.*432T>A) c.*1956T>A (n.*1956T>A) c.1706T>A (p.Phe569Tyr) c.1402-10527T>A (n.1402-10527T>A) c.2042T>A (p.Phe681Tyr) c.2222T>A (p.Phe741Tyr) c.1889T>A (p.Phe630Tyr) | |
| 7 | g.117592299T>C | CA368979917 | CFTR | c.2132T>C (p.Phe711Ser) c.*1846T>C (n.*1846T>C) c.1949T>C (p.Phe650Ser) c.*432T>C (n.*432T>C) c.*1956T>C (n.*1956T>C) c.1706T>C (p.Phe569Ser) c.1402-10527T>C (n.1402-10527T>C) c.2042T>C (p.Phe681Ser) c.2222T>C (p.Phe741Ser) c.1889T>C (p.Phe630Ser) | |
| 7 | g.117592299T>G | CA368979920 | CFTR | c.2132T>G (p.Phe711Cys) c.*1846T>G (n.*1846T>G) c.1949T>G (p.Phe650Cys) c.*432T>G (n.*432T>G) c.*1956T>G (n.*1956T>G) c.1706T>G (p.Phe569Cys) c.1402-10527T>G (n.1402-10527T>G) c.2042T>G (p.Phe681Cys) c.2222T>G (p.Phe741Cys) c.1889T>G (p.Phe630Cys) | |
| 7 | g.117592300T>A | CA368979923 | CFTR | c.2133T>A (p.Phe711Leu) c.*1847T>A (n.*1847T>A) c.1950T>A (p.Phe650Leu) c.*433T>A (n.*433T>A) c.*1957T>A (n.*1957T>A) c.1707T>A (p.Phe569Leu) c.1402-10526T>A (n.1402-10526T>A) c.2043T>A (p.Phe681Leu) c.2223T>A (p.Phe741Leu) c.1890T>A (p.Phe630Leu) | |
| 7 | g.117592300T>C | CA457449068 | CFTR | c.2133T>C (p.Phe711=) c.*1847T>C (n.*1847T>C) c.1950T>C (p.Phe650=) c.*433T>C (n.*433T>C) c.*1957T>C (n.*1957T>C) c.1707T>C (p.Phe569=) c.1402-10526T>C (n.1402-10526T>C) c.2043T>C (p.Phe681=) c.2223T>C (p.Phe741=) c.1890T>C (p.Phe630=) | |
| 7 | g.117592300T>G | CA368979925 | CFTR | c.2133T>G (p.Phe711Leu) c.*1847T>G (n.*1847T>G) c.1950T>G (p.Phe650Leu) c.*433T>G (n.*433T>G) c.*1957T>G (n.*1957T>G) c.1707T>G (p.Phe569Leu) c.1402-10526T>G (n.1402-10526T>G) c.2043T>G (p.Phe681Leu) c.2223T>G (p.Phe741Leu) c.1890T>G (p.Phe630Leu) | |
| 7 | g.117592301T>A | CA368979941 | CFTR | c.2134T>A (p.Ser712Thr) c.*1848T>A (n.*1848T>A) c.1951T>A (p.Ser651Thr) c.*434T>A (n.*434T>A) c.*1958T>A (n.*1958T>A) c.1708T>A (p.Ser570Thr) c.1402-10525T>A (n.1402-10525T>A) c.2044T>A (p.Ser682Thr) c.2224T>A (p.Ser742Thr) c.1891T>A (p.Ser631Thr) | |
| 7 | g.117592301T>C | CA368979936 | CFTR | c.2134T>C (p.Ser712Pro) c.*1848T>C (n.*1848T>C) c.1951T>C (p.Ser651Pro) c.*434T>C (n.*434T>C) c.*1958T>C (n.*1958T>C) c.1708T>C (p.Ser570Pro) c.1402-10525T>C (n.1402-10525T>C) c.2044T>C (p.Ser682Pro) c.2224T>C (p.Ser742Pro) c.1891T>C (p.Ser631Pro) | |
| 7 | g.117592301T>G | CA368979939 | CFTR | c.2134T>G (p.Ser712Ala) c.*1848T>G (n.*1848T>G) c.1951T>G (p.Ser651Ala) c.*434T>G (n.*434T>G) c.*1958T>G (n.*1958T>G) c.1708T>G (p.Ser570Ala) c.1402-10525T>G (n.1402-10525T>G) c.2044T>G (p.Ser682Ala) c.2224T>G (p.Ser742Ala) c.1891T>G (p.Ser631Ala) | |
| 7 | g.117592302C>A | CA368979944 | CFTR | c.2135C>A (p.Ser712Tyr) c.*1849C>A (n.*1849C>A) c.1952C>A (p.Ser651Tyr) c.*435C>A (n.*435C>A) c.*1959C>A (n.*1959C>A) c.1709C>A (p.Ser570Tyr) c.1402-10524C>A (n.1402-10524C>A) c.2045C>A (p.Ser682Tyr) c.2225C>A (p.Ser742Tyr) c.1892C>A (p.Ser631Tyr) | |
| 7 | g.117592302C>G | CA368979946 | CFTR | c.2135C>G (p.Ser712Cys) c.*1849C>G (n.*1849C>G) c.1952C>G (p.Ser651Cys) c.*435C>G (n.*435C>G) c.*1959C>G (n.*1959C>G) c.1709C>G (p.Ser570Cys) c.1402-10524C>G (n.1402-10524C>G) c.2045C>G (p.Ser682Cys) c.2225C>G (p.Ser742Cys) c.1892C>G (p.Ser631Cys) |