| 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.117592109_117592110delinsGA | CA1737394274 | CFTR | c.1942_1943delinsGA (p.Asp648=) c.*1656_*1657delinsGA (n.*1656_*1657delinsGA) c.1759_1760delinsGA (p.Asp587=) c.*242_*243delinsGA (n.*242_*243delinsGA) c.*1766_*1767delinsGA (n.*1766_*1767delinsGA) c.1516_1517delinsGA (p.Asp506=) c.1402-10717_1402-10716delinsGA (n.1402-10717_1402-10716delinsGA) c.1852_1853delinsGA (p.Asp618=) c.2032_2033delinsGA (p.Asp678=) c.1699_1700delinsGA (p.Asp567=) | |
| 7 | g.117592110del | CA832105444 | CFTR | c.1943del (p.Asp648ValfsTer15) c.*1657del (n.*1657del) c.1760del (p.Asp587ValfsTer15) c.*243del (n.*243del) c.*1767del (n.*1767del) c.1517del (p.Asp506ValfsTer15) c.1402-10716del (n.1402-10716del) c.1853del (p.Asp618ValfsTer15) c.2033del (p.Asp678ValfsTer15) c.1700del (p.Asp567ValfsTer15) | ClinVar dbSNP |
| 7 | g.117592110A= | CA1737394283 | CFTR | c.1943A= (p.Asp648=) c.*1657A= (n.*1657A=) c.1760A= (p.Asp587=) c.*243A= (n.*243A=) c.*1767A= (n.*1767A=) c.1517A= (p.Asp506=) c.1402-10716A= (n.1402-10716A=) c.1853A= (p.Asp618=) c.2033A= (p.Asp678=) c.1700A= (p.Asp567=) | |
| 7 | g.117592110A>C | CA368978924 | CFTR | c.1943A>C (p.Asp648Ala) c.*1657A>C (n.*1657A>C) c.1760A>C (p.Asp587Ala) c.*243A>C (n.*243A>C) c.*1767A>C (n.*1767A>C) c.1517A>C (p.Asp506Ala) c.1402-10716A>C (n.1402-10716A>C) c.1853A>C (p.Asp618Ala) c.2033A>C (p.Asp678Ala) c.1700A>C (p.Asp567Ala) | |
| 7 | g.117592110A>G | CA368978926 | CFTR | c.1943A>G (p.Asp648Gly) c.*1657A>G (n.*1657A>G) c.1760A>G (p.Asp587Gly) c.*243A>G (n.*243A>G) c.*1767A>G (n.*1767A>G) c.1517A>G (p.Asp506Gly) c.1402-10716A>G (n.1402-10716A>G) c.1853A>G (p.Asp618Gly) c.2033A>G (p.Asp678Gly) c.1700A>G (p.Asp567Gly) | dbSNP |
| 7 | g.117592110A>T | CA325587 | CFTR | c.1943A>T (p.Asp648Val) c.*1657A>T (n.*1657A>T) c.1760A>T (p.Asp587Val) c.*243A>T (n.*243A>T) c.*1767A>T (n.*1767A>T) c.1517A>T (p.Asp506Val) c.1402-10716A>T (n.1402-10716A>T) c.1853A>T (p.Asp618Val) c.2033A>T (p.Asp678Val) c.1700A>T (p.Asp567Val) | ClinVar dbSNP |
| 7 | g.117592111T>A | CA368978934 | CFTR | c.1944T>A (p.Asp648Glu) c.*1658T>A (n.*1658T>A) c.1761T>A (p.Asp587Glu) c.*244T>A (n.*244T>A) c.*1768T>A (n.*1768T>A) c.1518T>A (p.Asp506Glu) c.1402-10715T>A (n.1402-10715T>A) c.1854T>A (p.Asp618Glu) c.2034T>A (p.Asp678Glu) c.1701T>A (p.Asp567Glu) | |
| 7 | g.117592111T>C | CA457448900 | CFTR | c.1944T>C (p.Asp648=) c.*1658T>C (n.*1658T>C) c.1761T>C (p.Asp587=) c.*244T>C (n.*244T>C) c.*1768T>C (n.*1768T>C) c.1518T>C (p.Asp506=) c.1402-10715T>C (n.1402-10715T>C) c.1854T>C (p.Asp618=) c.2034T>C (p.Asp678=) c.1701T>C (p.Asp567=) | |
| 7 | g.117592111T>G | CA368978936 | CFTR | c.1944T>G (p.Asp648Glu) c.*1658T>G (n.*1658T>G) c.1761T>G (p.Asp587Glu) c.*244T>G (n.*244T>G) c.*1768T>G (n.*1768T>G) c.1518T>G (p.Asp506Glu) c.1402-10715T>G (n.1402-10715T>G) c.1854T>G (p.Asp618Glu) c.2034T>G (p.Asp678Glu) c.1701T>G (p.Asp567Glu) | |
| 7 | g.117592112T>A | CA368978938 | CFTR | c.1945T>A (p.Ser649Thr) c.*1659T>A (n.*1659T>A) c.1762T>A (p.Ser588Thr) c.*245T>A (n.*245T>A) c.*1769T>A (n.*1769T>A) c.1519T>A (p.Ser507Thr) c.1402-10714T>A (n.1402-10714T>A) c.1855T>A (p.Ser619Thr) c.2035T>A (p.Ser679Thr) c.1702T>A (p.Ser568Thr) | |
| 7 | g.117592112T>C | CA368978940 | CFTR | c.1945T>C (p.Ser649Pro) c.*1659T>C (n.*1659T>C) c.1762T>C (p.Ser588Pro) c.*245T>C (n.*245T>C) c.*1769T>C (n.*1769T>C) c.1519T>C (p.Ser507Pro) c.1402-10714T>C (n.1402-10714T>C) c.1855T>C (p.Ser619Pro) c.2035T>C (p.Ser679Pro) c.1702T>C (p.Ser568Pro) | |
| 7 | g.117592112T>G | CA368978941 | CFTR | c.1945T>G (p.Ser649Ala) c.*1659T>G (n.*1659T>G) c.1762T>G (p.Ser588Ala) c.*245T>G (n.*245T>G) c.*1769T>G (n.*1769T>G) c.1519T>G (p.Ser507Ala) c.1402-10714T>G (n.1402-10714T>G) c.1855T>G (p.Ser619Ala) c.2035T>G (p.Ser679Ala) c.1702T>G (p.Ser568Ala) | |
| 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=) | ClinVar 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) | ClinVar |
| 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) |