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.117592113C>A | CA368978943 | CFTR | c.1946C>A (p.Ser649Tyr) c.*1660C>A (n.*1660C>A) c.1763C>A (p.Ser588Tyr) c.*246C>A (n.*246C>A) c.*1770C>A (n.*1770C>A) c.1520C>A (p.Ser507Tyr) c.1402-10713C>A (n.1402-10713C>A) c.1856C>A (p.Ser619Tyr) c.2036C>A (p.Ser679Tyr) c.1703C>A (p.Ser568Tyr) | |
7 | g.117592113C>G | CA368978945 | CFTR | c.1946C>G (p.Ser649Cys) c.*1660C>G (n.*1660C>G) c.1763C>G (p.Ser588Cys) c.*246C>G (n.*246C>G) c.*1770C>G (n.*1770C>G) c.1520C>G (p.Ser507Cys) c.1402-10713C>G (n.1402-10713C>G) c.1856C>G (p.Ser619Cys) c.2036C>G (p.Ser679Cys) c.1703C>G (p.Ser568Cys) | |
7 | g.117592113C>T | CA368978947 | CFTR | c.1946C>T (p.Ser649Phe) c.*1660C>T (n.*1660C>T) c.1763C>T (p.Ser588Phe) c.*246C>T (n.*246C>T) c.*1770C>T (n.*1770C>T) c.1520C>T (p.Ser507Phe) c.1402-10713C>T (n.1402-10713C>T) c.1856C>T (p.Ser619Phe) c.2036C>T (p.Ser679Phe) c.1703C>T (p.Ser568Phe) | |
7 | g.117592114T>A | CA457448901 | CFTR | c.1947T>A (p.Ser649=) c.*1661T>A (n.*1661T>A) c.1764T>A (p.Ser588=) c.*247T>A (n.*247T>A) c.*1771T>A (n.*1771T>A) c.1521T>A (p.Ser507=) c.1402-10712T>A (n.1402-10712T>A) c.1857T>A (p.Ser619=) c.2037T>A (p.Ser679=) c.1704T>A (p.Ser568=) | |
7 | g.117592114T>C | CA4451118 | CFTR | c.1947T>C (p.Ser649=) c.*1661T>C (n.*1661T>C) c.1764T>C (p.Ser588=) c.*247T>C (n.*247T>C) c.*1771T>C (n.*1771T>C) c.1521T>C (p.Ser507=) c.1402-10712T>C (n.1402-10712T>C) c.1857T>C (p.Ser619=) c.2037T>C (p.Ser679=) c.1704T>C (p.Ser568=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592114T>G | CA457448902 | CFTR | c.1947T>G (p.Ser649=) c.*1661T>G (n.*1661T>G) c.1764T>G (p.Ser588=) c.*247T>G (n.*247T>G) c.*1771T>G (n.*1771T>G) c.1521T>G (p.Ser507=) c.1402-10712T>G (n.1402-10712T>G) c.1857T>G (p.Ser619=) c.2037T>G (p.Ser679=) c.1704T>G (p.Ser568=) | |
7 | g.117592114T= | CA1737394288 | CFTR | c.1947T= (p.Ser649=) c.*1661T= (n.*1661T=) c.1764T= (p.Ser588=) c.*247T= (n.*247T=) c.*1771T= (n.*1771T=) c.1521T= (p.Ser507=) c.1402-10712T= (n.1402-10712T=) c.1857T= (p.Ser619=) c.2037T= (p.Ser679=) c.1704T= (p.Ser568=) | |
7 | g.117592116del | CA2580076509 | CFTR | c.1949del (p.Phe650SerfsTer13) c.*1663del (n.*1663del) c.1766del (p.Phe589SerfsTer13) c.*249del (n.*249del) c.*1773del (n.*1773del) c.1523del (p.Phe508SerfsTer13) c.1402-10710del (n.1402-10710del) c.1859del (p.Phe620SerfsTer13) c.2039del (p.Phe680SerfsTer13) c.1706del (p.Phe569SerfsTer13) | ClinVar |
7 | g.117592115T>A | CA368978951 | CFTR | c.1948T>A (p.Phe650Ile) c.*1662T>A (n.*1662T>A) c.1765T>A (p.Phe589Ile) c.*248T>A (n.*248T>A) c.*1772T>A (n.*1772T>A) c.1522T>A (p.Phe508Ile) c.1402-10711T>A (n.1402-10711T>A) c.1858T>A (p.Phe620Ile) c.2038T>A (p.Phe680Ile) c.1705T>A (p.Phe569Ile) | |
7 | g.117592115T>C | CA368978954 | CFTR | c.1948T>C (p.Phe650Leu) c.*1662T>C (n.*1662T>C) c.1765T>C (p.Phe589Leu) c.*248T>C (n.*248T>C) c.*1772T>C (n.*1772T>C) c.1522T>C (p.Phe508Leu) c.1402-10711T>C (n.1402-10711T>C) c.1858T>C (p.Phe620Leu) c.2038T>C (p.Phe680Leu) c.1705T>C (p.Phe569Leu) | |
7 | g.117592115T>G | CA368978952 | CFTR | c.1948T>G (p.Phe650Val) c.*1662T>G (n.*1662T>G) c.1765T>G (p.Phe589Val) c.*248T>G (n.*248T>G) c.*1772T>G (n.*1772T>G) c.1522T>G (p.Phe508Val) c.1402-10711T>G (n.1402-10711T>G) c.1858T>G (p.Phe620Val) c.2038T>G (p.Phe680Val) c.1705T>G (p.Phe569Val) | |
7 | g.117592116T>A | CA368978959 | CFTR | c.1949T>A (p.Phe650Tyr) c.*1663T>A (n.*1663T>A) c.1766T>A (p.Phe589Tyr) c.*249T>A (n.*249T>A) c.*1773T>A (n.*1773T>A) c.1523T>A (p.Phe508Tyr) c.1402-10710T>A (n.1402-10710T>A) c.1859T>A (p.Phe620Tyr) c.2039T>A (p.Phe680Tyr) c.1706T>A (p.Phe569Tyr) | |
7 | g.117592116T>C | CA368978960 | CFTR | c.1949T>C (p.Phe650Ser) c.*1663T>C (n.*1663T>C) c.1766T>C (p.Phe589Ser) c.*249T>C (n.*249T>C) c.*1773T>C (n.*1773T>C) c.1523T>C (p.Phe508Ser) c.1402-10710T>C (n.1402-10710T>C) c.1859T>C (p.Phe620Ser) c.2039T>C (p.Phe680Ser) c.1706T>C (p.Phe569Ser) | dbSNP gnomAD v4 |
7 | g.117592116T>G | CA368978963 | CFTR | c.1949T>G (p.Phe650Cys) c.*1663T>G (n.*1663T>G) c.1766T>G (p.Phe589Cys) c.*249T>G (n.*249T>G) c.*1773T>G (n.*1773T>G) c.1523T>G (p.Phe508Cys) c.1402-10710T>G (n.1402-10710T>G) c.1859T>G (p.Phe620Cys) c.2039T>G (p.Phe680Cys) c.1706T>G (p.Phe569Cys) | |
7 | g.117592116T= | CA1737394290 | CFTR | c.1949T= (p.Phe650=) c.*1663T= (n.*1663T=) c.1766T= (p.Phe589=) c.*249T= (n.*249T=) c.*1773T= (n.*1773T=) c.1523T= (p.Phe508=) c.1402-10710T= (n.1402-10710T=) c.1859T= (p.Phe620=) c.2039T= (p.Phe680=) c.1706T= (p.Phe569=) | |
7 | g.117592117C>A | CA4451120 | CFTR | c.1950C>A (p.Phe650Leu) c.*1664C>A (n.*1664C>A) c.1767C>A (p.Phe589Leu) c.*250C>A (n.*250C>A) c.*1774C>A (n.*1774C>A) c.1524C>A (p.Phe508Leu) c.1402-10709C>A (n.1402-10709C>A) c.1860C>A (p.Phe620Leu) c.2040C>A (p.Phe680Leu) c.1707C>A (p.Phe569Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592117C= | CA1737394298 | CFTR | c.1950C= (p.Phe650=) c.*1664C= (n.*1664C=) c.1767C= (p.Phe589=) c.*250C= (n.*250C=) c.*1774C= (n.*1774C=) c.1524C= (p.Phe508=) c.1402-10709C= (n.1402-10709C=) c.1860C= (p.Phe620=) c.2040C= (p.Phe680=) c.1707C= (p.Phe569=) | |
7 | g.117592117C>G | CA368978968 | CFTR | c.1950C>G (p.Phe650Leu) c.*1664C>G (n.*1664C>G) c.1767C>G (p.Phe589Leu) c.*250C>G (n.*250C>G) c.*1774C>G (n.*1774C>G) c.1524C>G (p.Phe508Leu) c.1402-10709C>G (n.1402-10709C>G) c.1860C>G (p.Phe620Leu) c.2040C>G (p.Phe680Leu) c.1707C>G (p.Phe569Leu) | |
7 | g.117592117C>T | CA4451119 | CFTR | c.1950C>T (p.Phe650=) c.*1664C>T (n.*1664C>T) c.1767C>T (p.Phe589=) c.*250C>T (n.*250C>T) c.*1774C>T (n.*1774C>T) c.1524C>T (p.Phe508=) c.1402-10709C>T (n.1402-10709C>T) c.1860C>T (p.Phe620=) c.2040C>T (p.Phe680=) c.1707C>T (p.Phe569=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.117592118G>A | CA4451121 | CFTR | c.1951G>A (p.Asp651Asn) c.*1665G>A (n.*1665G>A) c.1768G>A (p.Asp590Asn) c.*251G>A (n.*251G>A) c.*1775G>A (n.*1775G>A) c.1525G>A (p.Asp509Asn) c.1402-10708G>A (n.1402-10708G>A) c.1861G>A (p.Asp621Asn) c.2041G>A (p.Asp681Asn) c.1708G>A (p.Asp570Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592118G>C | CA368978971 | CFTR | c.1951G>C (p.Asp651His) c.*1665G>C (n.*1665G>C) c.1768G>C (p.Asp590His) c.*251G>C (n.*251G>C) c.*1775G>C (n.*1775G>C) c.1525G>C (p.Asp509His) c.1402-10708G>C (n.1402-10708G>C) c.1861G>C (p.Asp621His) c.2041G>C (p.Asp681His) c.1708G>C (p.Asp570His) | |
7 | g.117592118G= | CA1737394302 | CFTR | c.1951G= (p.Asp651=) c.*1665G= (n.*1665G=) c.1768G= (p.Asp590=) c.*251G= (n.*251G=) c.*1775G= (n.*1775G=) c.1525G= (p.Asp509=) c.1402-10708G= (n.1402-10708G=) c.1861G= (p.Asp621=) c.2041G= (p.Asp681=) c.1708G= (p.Asp570=) | |
7 | g.117592118G>T | CA368978972 | CFTR | c.1951G>T (p.Asp651Tyr) c.*1665G>T (n.*1665G>T) c.1768G>T (p.Asp590Tyr) c.*251G>T (n.*251G>T) c.*1775G>T (n.*1775G>T) c.1525G>T (p.Asp509Tyr) c.1402-10708G>T (n.1402-10708G>T) c.1861G>T (p.Asp621Tyr) c.2041G>T (p.Asp681Tyr) c.1708G>T (p.Asp570Tyr) | |
7 | g.117592119A>C | CA368978975 | CFTR | c.1952A>C (p.Asp651Ala) c.*1666A>C (n.*1666A>C) c.1769A>C (p.Asp590Ala) c.*252A>C (n.*252A>C) c.*1776A>C (n.*1776A>C) c.1526A>C (p.Asp509Ala) c.1402-10707A>C (n.1402-10707A>C) c.1862A>C (p.Asp621Ala) c.2042A>C (p.Asp681Ala) c.1709A>C (p.Asp570Ala) | |
7 | g.117592119A>G | CA368978977 | CFTR | c.1952A>G (p.Asp651Gly) c.*1666A>G (n.*1666A>G) c.1769A>G (p.Asp590Gly) c.*252A>G (n.*252A>G) c.*1776A>G (n.*1776A>G) c.1526A>G (p.Asp509Gly) c.1402-10707A>G (n.1402-10707A>G) c.1862A>G (p.Asp621Gly) c.2042A>G (p.Asp681Gly) c.1709A>G (p.Asp570Gly) | |
7 | g.117592119A>T | CA368978978 | CFTR | c.1952A>T (p.Asp651Val) c.*1666A>T (n.*1666A>T) c.1769A>T (p.Asp590Val) c.*252A>T (n.*252A>T) c.*1776A>T (n.*1776A>T) c.1526A>T (p.Asp509Val) c.1402-10707A>T (n.1402-10707A>T) c.1862A>T (p.Asp621Val) c.2042A>T (p.Asp681Val) c.1709A>T (p.Asp570Val) | |
7 | g.117592120C>A | CA368978981 | CFTR | c.1953C>A (p.Asp651Glu) c.*1667C>A (n.*1667C>A) c.1770C>A (p.Asp590Glu) c.*253C>A (n.*253C>A) c.*1777C>A (n.*1777C>A) c.1527C>A (p.Asp509Glu) c.1402-10706C>A (n.1402-10706C>A) c.1863C>A (p.Asp621Glu) c.2043C>A (p.Asp681Glu) c.1710C>A (p.Asp570Glu) | |
7 | g.117592120C>G | CA368978983 | CFTR | c.1953C>G (p.Asp651Glu) c.*1667C>G (n.*1667C>G) c.1770C>G (p.Asp590Glu) c.*253C>G (n.*253C>G) c.*1777C>G (n.*1777C>G) c.1527C>G (p.Asp509Glu) c.1402-10706C>G (n.1402-10706C>G) c.1863C>G (p.Asp621Glu) c.2043C>G (p.Asp681Glu) c.1710C>G (p.Asp570Glu) | |
7 | g.117592120C>T | CA457448903 | CFTR | c.1953C>T (p.Asp651=) c.*1667C>T (n.*1667C>T) c.1770C>T (p.Asp590=) c.*253C>T (n.*253C>T) c.*1777C>T (n.*1777C>T) c.1527C>T (p.Asp509=) c.1402-10706C>T (n.1402-10706C>T) c.1863C>T (p.Asp621=) c.2043C>T (p.Asp681=) c.1710C>T (p.Asp570=) | ClinVar gnomAD v4 |
7 | g.117592121C>A | CA4451122 | CFTR | c.1954C>A (p.Gln652Lys) c.*1668C>A (n.*1668C>A) c.1771C>A (p.Gln591Lys) c.*254C>A (n.*254C>A) c.*1778C>A (n.*1778C>A) c.1528C>A (p.Gln510Lys) c.1402-10705C>A (n.1402-10705C>A) c.1864C>A (p.Gln622Lys) c.2044C>A (p.Gln682Lys) c.1711C>A (p.Gln571Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592121C= | CA1737394308 | CFTR | c.1954C= (p.Gln652=) c.*1668C= (n.*1668C=) c.1771C= (p.Gln591=) c.*254C= (n.*254C=) c.*1778C= (n.*1778C=) c.1528C= (p.Gln510=) c.1402-10705C= (n.1402-10705C=) c.1864C= (p.Gln622=) c.2044C= (p.Gln682=) c.1711C= (p.Gln571=) | |
7 | g.117592121C>G | CA4451123 | CFTR | c.1954C>G (p.Gln652Glu) c.*1668C>G (n.*1668C>G) c.1771C>G (p.Gln591Glu) c.*254C>G (n.*254C>G) c.*1778C>G (n.*1778C>G) c.1528C>G (p.Gln510Glu) c.1402-10705C>G (n.1402-10705C>G) c.1864C>G (p.Gln622Glu) c.2044C>G (p.Gln682Glu) c.1711C>G (p.Gln571Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592121C>T | CA368978987 | CFTR | c.1954C>T (p.Gln652Ter) c.*1668C>T (n.*1668C>T) c.1771C>T (p.Gln591Ter) c.*254C>T (n.*254C>T) c.*1778C>T (n.*1778C>T) c.1528C>T (p.Gln510Ter) c.1402-10705C>T (n.1402-10705C>T) c.1864C>T (p.Gln622Ter) c.2044C>T (p.Gln682Ter) c.1711C>T (p.Gln571Ter) | |
7 | g.117592122A>C | CA368978988 | CFTR | c.1955A>C (p.Gln652Pro) c.*1669A>C (n.*1669A>C) c.1772A>C (p.Gln591Pro) c.*255A>C (n.*255A>C) c.*1779A>C (n.*1779A>C) c.1529A>C (p.Gln510Pro) c.1402-10704A>C (n.1402-10704A>C) c.1865A>C (p.Gln622Pro) c.2045A>C (p.Gln682Pro) c.1712A>C (p.Gln571Pro) | ClinVar gnomAD v4 |
7 | g.117592122A>G | CA368978989 | CFTR | c.1955A>G (p.Gln652Arg) c.*1669A>G (n.*1669A>G) c.1772A>G (p.Gln591Arg) c.*255A>G (n.*255A>G) c.*1779A>G (n.*1779A>G) c.1529A>G (p.Gln510Arg) c.1402-10704A>G (n.1402-10704A>G) c.1865A>G (p.Gln622Arg) c.2045A>G (p.Gln682Arg) c.1712A>G (p.Gln571Arg) | |
7 | g.117592122A>T | CA368978990 | CFTR | c.1955A>T (p.Gln652Leu) c.*1669A>T (n.*1669A>T) c.1772A>T (p.Gln591Leu) c.*255A>T (n.*255A>T) c.*1779A>T (n.*1779A>T) c.1529A>T (p.Gln510Leu) c.1402-10704A>T (n.1402-10704A>T) c.1865A>T (p.Gln622Leu) c.2045A>T (p.Gln682Leu) c.1712A>T (p.Gln571Leu) | |
7 | g.117592123A>C | CA368978991 | CFTR | c.1956A>C (p.Gln652His) c.*1670A>C (n.*1670A>C) c.1773A>C (p.Gln591His) c.*256A>C (n.*256A>C) c.*1780A>C (n.*1780A>C) c.1530A>C (p.Gln510His) c.1402-10703A>C (n.1402-10703A>C) c.1866A>C (p.Gln622His) c.2046A>C (p.Gln682His) c.1713A>C (p.Gln571His) | |
7 | g.117592123A>G | CA457448904 | CFTR | c.1956A>G (p.Gln652=) c.*1670A>G (n.*1670A>G) c.1773A>G (p.Gln591=) c.*256A>G (n.*256A>G) c.*1780A>G (n.*1780A>G) c.1530A>G (p.Gln510=) c.1402-10703A>G (n.1402-10703A>G) c.1866A>G (p.Gln622=) c.2046A>G (p.Gln682=) c.1713A>G (p.Gln571=) | |
7 | g.117592123A>T | CA368978993 | CFTR | c.1956A>T (p.Gln652His) c.*1670A>T (n.*1670A>T) c.1773A>T (p.Gln591His) c.*256A>T (n.*256A>T) c.*1780A>T (n.*1780A>T) c.1530A>T (p.Gln510His) c.1402-10703A>T (n.1402-10703A>T) c.1866A>T (p.Gln622His) c.2046A>T (p.Gln682His) c.1713A>T (p.Gln571His) | |
7 | g.117592124T>A | CA368978994 | CFTR | c.1957T>A (p.Phe653Ile) c.*1671T>A (n.*1671T>A) c.1774T>A (p.Phe592Ile) c.*257T>A (n.*257T>A) c.*1781T>A (n.*1781T>A) c.1531T>A (p.Phe511Ile) c.1402-10702T>A (n.1402-10702T>A) c.1867T>A (p.Phe623Ile) c.2047T>A (p.Phe683Ile) c.1714T>A (p.Phe572Ile) | |
7 | g.117592124T>C | CA368978996 | CFTR | c.1957T>C (p.Phe653Leu) c.*1671T>C (n.*1671T>C) c.1774T>C (p.Phe592Leu) c.*257T>C (n.*257T>C) c.*1781T>C (n.*1781T>C) c.1531T>C (p.Phe511Leu) c.1402-10702T>C (n.1402-10702T>C) c.1867T>C (p.Phe623Leu) c.2047T>C (p.Phe683Leu) c.1714T>C (p.Phe572Leu) | |
7 | g.117592124T>G | CA368978998 | CFTR | c.1957T>G (p.Phe653Val) c.*1671T>G (n.*1671T>G) c.1774T>G (p.Phe592Val) c.*257T>G (n.*257T>G) c.*1781T>G (n.*1781T>G) c.1531T>G (p.Phe511Val) c.1402-10702T>G (n.1402-10702T>G) c.1867T>G (p.Phe623Val) c.2047T>G (p.Phe683Val) c.1714T>G (p.Phe572Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592124T= | CA1737394313 | CFTR | c.1957T= (p.Phe653=) c.*1671T= (n.*1671T=) c.1774T= (p.Phe592=) c.*257T= (n.*257T=) c.*1781T= (n.*1781T=) c.1531T= (p.Phe511=) c.1402-10702T= (n.1402-10702T=) c.1867T= (p.Phe623=) c.2047T= (p.Phe683=) c.1714T= (p.Phe572=) | |
7 | g.117592125T>A | CA368979002 | CFTR | c.1958T>A (p.Phe653Tyr) c.*1672T>A (n.*1672T>A) c.1775T>A (p.Phe592Tyr) c.*258T>A (n.*258T>A) c.*1782T>A (n.*1782T>A) c.1532T>A (p.Phe511Tyr) c.1402-10701T>A (n.1402-10701T>A) c.1868T>A (p.Phe623Tyr) c.2048T>A (p.Phe683Tyr) c.1715T>A (p.Phe572Tyr) | |
7 | g.117592125T>C | CA368979004 | CFTR | c.1958T>C (p.Phe653Ser) c.*1672T>C (n.*1672T>C) c.1775T>C (p.Phe592Ser) c.*258T>C (n.*258T>C) c.*1782T>C (n.*1782T>C) c.1532T>C (p.Phe511Ser) c.1402-10701T>C (n.1402-10701T>C) c.1868T>C (p.Phe623Ser) c.2048T>C (p.Phe683Ser) c.1715T>C (p.Phe572Ser) | |
7 | g.117592125T>G | CA368979005 | CFTR | c.1958T>G (p.Phe653Cys) c.*1672T>G (n.*1672T>G) c.1775T>G (p.Phe592Cys) c.*258T>G (n.*258T>G) c.*1782T>G (n.*1782T>G) c.1532T>G (p.Phe511Cys) c.1402-10701T>G (n.1402-10701T>G) c.1868T>G (p.Phe623Cys) c.2048T>G (p.Phe683Cys) c.1715T>G (p.Phe572Cys) | |
7 | g.117592126T>A | CA368979006 | CFTR | c.1959T>A (p.Phe653Leu) c.*1673T>A (n.*1673T>A) c.1776T>A (p.Phe592Leu) c.*259T>A (n.*259T>A) c.*1783T>A (n.*1783T>A) c.1533T>A (p.Phe511Leu) c.1402-10700T>A (n.1402-10700T>A) c.1869T>A (p.Phe623Leu) c.2049T>A (p.Phe683Leu) c.1716T>A (p.Phe572Leu) | |
7 | g.117592126T>C | CA457448905 | CFTR | c.1959T>C (p.Phe653=) c.*1673T>C (n.*1673T>C) c.1776T>C (p.Phe592=) c.*259T>C (n.*259T>C) c.*1783T>C (n.*1783T>C) c.1533T>C (p.Phe511=) c.1402-10700T>C (n.1402-10700T>C) c.1869T>C (p.Phe623=) c.2049T>C (p.Phe683=) c.1716T>C (p.Phe572=) | |
7 | g.117592126T>G | CA368979007 | CFTR | c.1959T>G (p.Phe653Leu) c.*1673T>G (n.*1673T>G) c.1776T>G (p.Phe592Leu) c.*259T>G (n.*259T>G) c.*1783T>G (n.*1783T>G) c.1533T>G (p.Phe511Leu) c.1402-10700T>G (n.1402-10700T>G) c.1869T>G (p.Phe623Leu) c.2049T>G (p.Phe683Leu) c.1716T>G (p.Phe572Leu) |