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.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) | |
| 7 | g.117592302C>T | CA368979950 | CFTR | c.2135C>T (p.Ser712Phe) c.*1849C>T (n.*1849C>T) c.1952C>T (p.Ser651Phe) c.*435C>T (n.*435C>T) c.*1959C>T (n.*1959C>T) c.1709C>T (p.Ser570Phe) c.1402-10524C>T (n.1402-10524C>T) c.2045C>T (p.Ser682Phe) c.2225C>T (p.Ser742Phe) c.1892C>T (p.Ser631Phe) | |
| 7 | g.117592303C>A | CA457449069 | CFTR | c.2136C>A (p.Ser712=) c.*1850C>A (n.*1850C>A) c.1953C>A (p.Ser651=) c.*436C>A (n.*436C>A) c.*1960C>A (n.*1960C>A) c.1710C>A (p.Ser570=) c.1402-10523C>A (n.1402-10523C>A) c.2046C>A (p.Ser682=) c.2226C>A (p.Ser742=) c.1893C>A (p.Ser631=) | |
| 7 | g.117592303C>G | CA457449070 | CFTR | c.2136C>G (p.Ser712=) c.*1850C>G (n.*1850C>G) c.1953C>G (p.Ser651=) c.*436C>G (n.*436C>G) c.*1960C>G (n.*1960C>G) c.1710C>G (p.Ser570=) c.1402-10523C>G (n.1402-10523C>G) c.2046C>G (p.Ser682=) c.2226C>G (p.Ser742=) c.1893C>G (p.Ser631=) | |
| 7 | g.117592303C>T | CA457449071 | CFTR | c.2136C>T (p.Ser712=) c.*1850C>T (n.*1850C>T) c.1953C>T (p.Ser651=) c.*436C>T (n.*436C>T) c.*1960C>T (n.*1960C>T) c.1710C>T (p.Ser570=) c.1402-10523C>T (n.1402-10523C>T) c.2046C>T (p.Ser682=) c.2226C>T (p.Ser742=) c.1893C>T (p.Ser631=) | ClinVar |
| 7 | g.117592304A= | CA1737394848 | CFTR | c.2137A= (p.Ile713=) c.*1851A= (n.*1851A=) c.1954A= (p.Ile652=) c.*437A= (n.*437A=) c.*1961A= (n.*1961A=) c.1711A= (p.Ile571=) c.1402-10522A= (n.1402-10522A=) c.2047A= (p.Ile683=) c.2227A= (p.Ile743=) c.1894A= (p.Ile632=) | |
| 7 | g.117592304A>C | CA368979956 | CFTR | c.2137A>C (p.Ile713Leu) c.*1851A>C (n.*1851A>C) c.1954A>C (p.Ile652Leu) c.*437A>C (n.*437A>C) c.*1961A>C (n.*1961A>C) c.1711A>C (p.Ile571Leu) c.1402-10522A>C (n.1402-10522A>C) c.2047A>C (p.Ile683Leu) c.2227A>C (p.Ile743Leu) c.1894A>C (p.Ile632Leu) | |
| 7 | g.117592304A>G | CA368979959 | CFTR | c.2137A>G (p.Ile713Val) c.*1851A>G (n.*1851A>G) c.1954A>G (p.Ile652Val) c.*437A>G (n.*437A>G) c.*1961A>G (n.*1961A>G) c.1711A>G (p.Ile571Val) c.1402-10522A>G (n.1402-10522A>G) c.2047A>G (p.Ile683Val) c.2227A>G (p.Ile743Val) c.1894A>G (p.Ile632Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117592304A>T | CA368979962 | CFTR | c.2137A>T (p.Ile713Phe) c.*1851A>T (n.*1851A>T) c.1954A>T (p.Ile652Phe) c.*437A>T (n.*437A>T) c.*1961A>T (n.*1961A>T) c.1711A>T (p.Ile571Phe) c.1402-10522A>T (n.1402-10522A>T) c.2047A>T (p.Ile683Phe) c.2227A>T (p.Ile743Phe) c.1894A>T (p.Ile632Phe) | |
| 7 | g.117592305T>A | CA368979964 | CFTR | c.2138T>A (p.Ile713Asn) c.*1852T>A (n.*1852T>A) c.1955T>A (p.Ile652Asn) c.*438T>A (n.*438T>A) c.*1962T>A (n.*1962T>A) c.1712T>A (p.Ile571Asn) c.1402-10521T>A (n.1402-10521T>A) c.2048T>A (p.Ile683Asn) c.2228T>A (p.Ile743Asn) c.1895T>A (p.Ile632Asn) | |
| 7 | g.117592305T>C | CA368979965 | CFTR | c.2138T>C (p.Ile713Thr) c.*1852T>C (n.*1852T>C) c.1955T>C (p.Ile652Thr) c.*438T>C (n.*438T>C) c.*1962T>C (n.*1962T>C) c.1712T>C (p.Ile571Thr) c.1402-10521T>C (n.1402-10521T>C) c.2048T>C (p.Ile683Thr) c.2228T>C (p.Ile743Thr) c.1895T>C (p.Ile632Thr) | |
| 7 | g.117592305T>G | CA368979966 | CFTR | c.2138T>G (p.Ile713Ser) c.*1852T>G (n.*1852T>G) c.1955T>G (p.Ile652Ser) c.*438T>G (n.*438T>G) c.*1962T>G (n.*1962T>G) c.1712T>G (p.Ile571Ser) c.1402-10521T>G (n.1402-10521T>G) c.2048T>G (p.Ile683Ser) c.2228T>G (p.Ile743Ser) c.1895T>G (p.Ile632Ser) | |
| 7 | g.117592306T>A | CA4451145 | CFTR | c.2139T>A (p.Ile713=) c.*1853T>A (n.*1853T>A) c.1956T>A (p.Ile652=) c.*439T>A (n.*439T>A) c.*1963T>A (n.*1963T>A) c.1713T>A (p.Ile571=) c.1402-10520T>A (n.1402-10520T>A) c.2049T>A (p.Ile683=) c.2229T>A (p.Ile743=) c.1896T>A (p.Ile632=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592306T>C | CA457449376 | CFTR | c.2139T>C (p.Ile713=) c.*1853T>C (n.*1853T>C) c.1956T>C (p.Ile652=) c.*439T>C (n.*439T>C) c.*1963T>C (n.*1963T>C) c.1713T>C (p.Ile571=) c.1402-10520T>C (n.1402-10520T>C) c.2049T>C (p.Ile683=) c.2229T>C (p.Ile743=) c.1896T>C (p.Ile632=) | ClinVar dbSNP |
| 7 | g.117592306T>G | CA368979973 | CFTR | c.2139T>G (p.Ile713Met) c.*1853T>G (n.*1853T>G) c.1956T>G (p.Ile652Met) c.*439T>G (n.*439T>G) c.*1963T>G (n.*1963T>G) c.1713T>G (p.Ile571Met) c.1402-10520T>G (n.1402-10520T>G) c.2049T>G (p.Ile683Met) c.2229T>G (p.Ile743Met) c.1896T>G (p.Ile632Met) |