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.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) | ClinVar 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) | |
7 | g.117592127A= | CA1737394315 | CFTR | c.1960A= (p.Ser654=) c.*1674A= (n.*1674A=) c.1777A= (p.Ser593=) c.*260A= (n.*260A=) c.*1784A= (n.*1784A=) c.1534A= (p.Ser512=) c.1402-10699A= (n.1402-10699A=) c.1870A= (p.Ser624=) c.2050A= (p.Ser684=) c.1717A= (p.Ser573=) | |
7 | g.117592127A>C | CA368979008 | CFTR | c.1960A>C (p.Ser654Arg) c.*1674A>C (n.*1674A>C) c.1777A>C (p.Ser593Arg) c.*260A>C (n.*260A>C) c.*1784A>C (n.*1784A>C) c.1534A>C (p.Ser512Arg) c.1402-10699A>C (n.1402-10699A>C) c.1870A>C (p.Ser624Arg) c.2050A>C (p.Ser684Arg) c.1717A>C (p.Ser573Arg) | |
7 | g.117592127A>G | CA164947637 | CFTR | c.1960A>G (p.Ser654Gly) c.*1674A>G (n.*1674A>G) c.1777A>G (p.Ser593Gly) c.*260A>G (n.*260A>G) c.*1784A>G (n.*1784A>G) c.1534A>G (p.Ser512Gly) c.1402-10699A>G (n.1402-10699A>G) c.1870A>G (p.Ser624Gly) c.2050A>G (p.Ser684Gly) c.1717A>G (p.Ser573Gly) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592127A>T | CA368979009 | CFTR | c.1960A>T (p.Ser654Cys) c.*1674A>T (n.*1674A>T) c.1777A>T (p.Ser593Cys) c.*260A>T (n.*260A>T) c.*1784A>T (n.*1784A>T) c.1534A>T (p.Ser512Cys) c.1402-10699A>T (n.1402-10699A>T) c.1870A>T (p.Ser624Cys) c.2050A>T (p.Ser684Cys) c.1717A>T (p.Ser573Cys) | ClinVar dbSNP |
7 | g.117592128G>A | CA368979010 | CFTR | c.1961G>A (p.Ser654Asn) c.*1675G>A (n.*1675G>A) c.1778G>A (p.Ser593Asn) c.*261G>A (n.*261G>A) c.*1785G>A (n.*1785G>A) c.1535G>A (p.Ser512Asn) c.1402-10698G>A (n.1402-10698G>A) c.1871G>A (p.Ser624Asn) c.2051G>A (p.Ser684Asn) c.1718G>A (p.Ser573Asn) | |
7 | g.117592128G>C | CA368979013 | CFTR | c.1961G>C (p.Ser654Thr) c.*1675G>C (n.*1675G>C) c.1778G>C (p.Ser593Thr) c.*261G>C (n.*261G>C) c.*1785G>C (n.*1785G>C) c.1535G>C (p.Ser512Thr) c.1402-10698G>C (n.1402-10698G>C) c.1871G>C (p.Ser624Thr) c.2051G>C (p.Ser684Thr) c.1718G>C (p.Ser573Thr) | |
7 | g.117592128G>T | CA368979011 | CFTR | c.1961G>T (p.Ser654Ile) c.*1675G>T (n.*1675G>T) c.1778G>T (p.Ser593Ile) c.*261G>T (n.*261G>T) c.*1785G>T (n.*1785G>T) c.1535G>T (p.Ser512Ile) c.1402-10698G>T (n.1402-10698G>T) c.1871G>T (p.Ser624Ile) c.2051G>T (p.Ser684Ile) c.1718G>T (p.Ser573Ile) | |
7 | g.117592129T>A | CA368979017 | CFTR | c.1962T>A (p.Ser654Arg) c.*1676T>A (n.*1676T>A) c.1779T>A (p.Ser593Arg) c.*262T>A (n.*262T>A) c.*1786T>A (n.*1786T>A) c.1536T>A (p.Ser512Arg) c.1402-10697T>A (n.1402-10697T>A) c.1872T>A (p.Ser624Arg) c.2052T>A (p.Ser684Arg) c.1719T>A (p.Ser573Arg) | |
7 | g.117592129T>C | CA457448906 | CFTR | c.1962T>C (p.Ser654=) c.*1676T>C (n.*1676T>C) c.1779T>C (p.Ser593=) c.*262T>C (n.*262T>C) c.*1786T>C (n.*1786T>C) c.1536T>C (p.Ser512=) c.1402-10697T>C (n.1402-10697T>C) c.1872T>C (p.Ser624=) c.2052T>C (p.Ser684=) c.1719T>C (p.Ser573=) | ClinVar dbSNP gnomAD v4 |
7 | g.117592129T>G | CA368979019 | CFTR | c.1962T>G (p.Ser654Arg) c.*1676T>G (n.*1676T>G) c.1779T>G (p.Ser593Arg) c.*262T>G (n.*262T>G) c.*1786T>G (n.*1786T>G) c.1536T>G (p.Ser512Arg) c.1402-10697T>G (n.1402-10697T>G) c.1872T>G (p.Ser624Arg) c.2052T>G (p.Ser684Arg) c.1719T>G (p.Ser573Arg) | ClinVar dbSNP |
7 | g.117592129T= | CA1737394320 | CFTR | c.1962T= (p.Ser654=) c.*1676T= (n.*1676T=) c.1779T= (p.Ser593=) c.*262T= (n.*262T=) c.*1786T= (n.*1786T=) c.1536T= (p.Ser512=) c.1402-10697T= (n.1402-10697T=) c.1872T= (p.Ser624=) c.2052T= (p.Ser684=) c.1719T= (p.Ser573=) | |
7 | g.117592130G>A | CA368979021 | CFTR | c.1963G>A (p.Ala655Thr) c.*1677G>A (n.*1677G>A) c.1780G>A (p.Ala594Thr) c.*263G>A (n.*263G>A) c.*1787G>A (n.*1787G>A) c.1537G>A (p.Ala513Thr) c.1402-10696G>A (n.1402-10696G>A) c.1873G>A (p.Ala625Thr) c.2053G>A (p.Ala685Thr) c.1720G>A (p.Ala574Thr) | dbSNP COSMIC |
7 | g.117592130G>C | CA368979022 | CFTR | c.1963G>C (p.Ala655Pro) c.*1677G>C (n.*1677G>C) c.1780G>C (p.Ala594Pro) c.*263G>C (n.*263G>C) c.*1787G>C (n.*1787G>C) c.1537G>C (p.Ala513Pro) c.1402-10696G>C (n.1402-10696G>C) c.1873G>C (p.Ala625Pro) c.2053G>C (p.Ala685Pro) c.1720G>C (p.Ala574Pro) | |
7 | g.117592130G>T | CA368979023 | CFTR | c.1963G>T (p.Ala655Ser) c.*1677G>T (n.*1677G>T) c.1780G>T (p.Ala594Ser) c.*263G>T (n.*263G>T) c.*1787G>T (n.*1787G>T) c.1537G>T (p.Ala513Ser) c.1402-10696G>T (n.1402-10696G>T) c.1873G>T (p.Ala625Ser) c.2053G>T (p.Ala685Ser) c.1720G>T (p.Ala574Ser) | |
7 | g.117592131C>A | CA368979026 | CFTR | c.1964C>A (p.Ala655Glu) c.*1678C>A (n.*1678C>A) c.1781C>A (p.Ala594Glu) c.*264C>A (n.*264C>A) c.*1788C>A (n.*1788C>A) c.1538C>A (p.Ala513Glu) c.1402-10695C>A (n.1402-10695C>A) c.1874C>A (p.Ala625Glu) c.2054C>A (p.Ala685Glu) c.1721C>A (p.Ala574Glu) | |
7 | g.117592131C>G | CA368979028 | CFTR | c.1964C>G (p.Ala655Gly) c.*1678C>G (n.*1678C>G) c.1781C>G (p.Ala594Gly) c.*264C>G (n.*264C>G) c.*1788C>G (n.*1788C>G) c.1538C>G (p.Ala513Gly) c.1402-10695C>G (n.1402-10695C>G) c.1874C>G (p.Ala625Gly) c.2054C>G (p.Ala685Gly) c.1721C>G (p.Ala574Gly) | |
7 | g.117592131C>T | CA368979031 | CFTR | c.1964C>T (p.Ala655Val) c.*1678C>T (n.*1678C>T) c.1781C>T (p.Ala594Val) c.*264C>T (n.*264C>T) c.*1788C>T (n.*1788C>T) c.1538C>T (p.Ala513Val) c.1402-10695C>T (n.1402-10695C>T) c.1874C>T (p.Ala625Val) c.2054C>T (p.Ala685Val) c.1721C>T (p.Ala574Val) | ClinVar gnomAD v4 |
7 | g.117592132A>C | CA457448909 | CFTR | c.1965A>C (p.Ala655=) c.*1679A>C (n.*1679A>C) c.1782A>C (p.Ala594=) c.*265A>C (n.*265A>C) c.*1789A>C (n.*1789A>C) c.1539A>C (p.Ala513=) c.1402-10694A>C (n.1402-10694A>C) c.1875A>C (p.Ala625=) c.2055A>C (p.Ala685=) c.1722A>C (p.Ala574=) | |
7 | g.117592132A>G | CA457448907 | CFTR | c.1965A>G (p.Ala655=) c.*1679A>G (n.*1679A>G) c.1782A>G (p.Ala594=) c.*265A>G (n.*265A>G) c.*1789A>G (n.*1789A>G) c.1539A>G (p.Ala513=) c.1402-10694A>G (n.1402-10694A>G) c.1875A>G (p.Ala625=) c.2055A>G (p.Ala685=) c.1722A>G (p.Ala574=) | |
7 | g.117592132A>T | CA457448908 | CFTR | c.1965A>T (p.Ala655=) c.*1679A>T (n.*1679A>T) c.1782A>T (p.Ala594=) c.*265A>T (n.*265A>T) c.*1789A>T (n.*1789A>T) c.1539A>T (p.Ala513=) c.1402-10694A>T (n.1402-10694A>T) c.1875A>T (p.Ala625=) c.2055A>T (p.Ala685=) c.1722A>T (p.Ala574=) | |
7 | g.117592133G>A | CA368979033 | CFTR | c.1966G>A (p.Glu656Lys) c.*1680G>A (n.*1680G>A) c.1783G>A (p.Glu595Lys) c.*266G>A (n.*266G>A) c.*1790G>A (n.*1790G>A) c.1540G>A (p.Glu514Lys) c.1402-10693G>A (n.1402-10693G>A) c.1876G>A (p.Glu626Lys) c.2056G>A (p.Glu686Lys) c.1723G>A (p.Glu575Lys) | |
7 | g.117592133G>C | CA368979035 | CFTR | c.1966G>C (p.Glu656Gln) c.*1680G>C (n.*1680G>C) c.1783G>C (p.Glu595Gln) c.*266G>C (n.*266G>C) c.*1790G>C (n.*1790G>C) c.1540G>C (p.Glu514Gln) c.1402-10693G>C (n.1402-10693G>C) c.1876G>C (p.Glu626Gln) c.2056G>C (p.Glu686Gln) c.1723G>C (p.Glu575Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592133G= | CA1737394326 | CFTR | c.1966G= (p.Glu656=) c.*1680G= (n.*1680G=) c.1783G= (p.Glu595=) c.*266G= (n.*266G=) c.*1790G= (n.*1790G=) c.1540G= (p.Glu514=) c.1402-10693G= (n.1402-10693G=) c.1876G= (p.Glu626=) c.2056G= (p.Glu686=) c.1723G= (p.Glu575=) | |
7 | g.117592133G>T | CA326719 | CFTR | c.1966G>T (p.Glu656Ter) c.*1680G>T (n.*1680G>T) c.1783G>T (p.Glu595Ter) c.*266G>T (n.*266G>T) c.*1790G>T (n.*1790G>T) c.1540G>T (p.Glu514Ter) c.1402-10693G>T (n.1402-10693G>T) c.1876G>T (p.Glu626Ter) c.2056G>T (p.Glu686Ter) c.1723G>T (p.Glu575Ter) | ClinVar dbSNP |
7 | g.117592134A= | CA1737394333 | CFTR | c.1967A= (p.Glu656=) c.*1681A= (n.*1681A=) c.1784A= (p.Glu595=) c.*267A= (n.*267A=) c.*1791A= (n.*1791A=) c.1541A= (p.Glu514=) c.1402-10692A= (n.1402-10692A=) c.1877A= (p.Glu626=) c.2057A= (p.Glu686=) c.1724A= (p.Glu575=) | |
7 | g.117592134A>C | CA368979042 | CFTR | c.1967A>C (p.Glu656Ala) c.*1681A>C (n.*1681A>C) c.1784A>C (p.Glu595Ala) c.*267A>C (n.*267A>C) c.*1791A>C (n.*1791A>C) c.1541A>C (p.Glu514Ala) c.1402-10692A>C (n.1402-10692A>C) c.1877A>C (p.Glu626Ala) c.2057A>C (p.Glu686Ala) c.1724A>C (p.Glu575Ala) | |
7 | g.117592134A>G | CA368979040 | CFTR | c.1967A>G (p.Glu656Gly) c.*1681A>G (n.*1681A>G) c.1784A>G (p.Glu595Gly) c.*267A>G (n.*267A>G) c.*1791A>G (n.*1791A>G) c.1541A>G (p.Glu514Gly) c.1402-10692A>G (n.1402-10692A>G) c.1877A>G (p.Glu626Gly) c.2057A>G (p.Glu686Gly) c.1724A>G (p.Glu575Gly) | ClinVar dbSNP |
7 | g.117592134A>T | CA368979038 | CFTR | c.1967A>T (p.Glu656Val) c.*1681A>T (n.*1681A>T) c.1784A>T (p.Glu595Val) c.*267A>T (n.*267A>T) c.*1791A>T (n.*1791A>T) c.1541A>T (p.Glu514Val) c.1402-10692A>T (n.1402-10692A>T) c.1877A>T (p.Glu626Val) c.2057A>T (p.Glu686Val) c.1724A>T (p.Glu575Val) | |
7 | g.117592135A>C | CA368979045 | CFTR | c.1968A>C (p.Glu656Asp) c.*1682A>C (n.*1682A>C) c.1785A>C (p.Glu595Asp) c.*268A>C (n.*268A>C) c.*1792A>C (n.*1792A>C) c.1542A>C (p.Glu514Asp) c.1402-10691A>C (n.1402-10691A>C) c.1878A>C (p.Glu626Asp) c.2058A>C (p.Glu686Asp) c.1725A>C (p.Glu575Asp) | |
7 | g.117592135A>G | CA457448910 | CFTR | c.1968A>G (p.Glu656=) c.*1682A>G (n.*1682A>G) c.1785A>G (p.Glu595=) c.*268A>G (n.*268A>G) c.*1792A>G (n.*1792A>G) c.1542A>G (p.Glu514=) c.1402-10691A>G (n.1402-10691A>G) c.1878A>G (p.Glu626=) c.2058A>G (p.Glu686=) c.1725A>G (p.Glu575=) | |
7 | g.117592135A>T | CA368979047 | CFTR | c.1968A>T (p.Glu656Asp) c.*1682A>T (n.*1682A>T) c.1785A>T (p.Glu595Asp) c.*268A>T (n.*268A>T) c.*1792A>T (n.*1792A>T) c.1542A>T (p.Glu514Asp) c.1402-10691A>T (n.1402-10691A>T) c.1878A>T (p.Glu626Asp) c.2058A>T (p.Glu686Asp) c.1725A>T (p.Glu575Asp) | |
7 | g.117592136A= | CA1737394336 | CFTR | c.1969A= (p.Arg657=) c.*1683A= (n.*1683A=) c.1786A= (p.Arg596=) c.*269A= (n.*269A=) c.*1793A= (n.*1793A=) c.1543A= (p.Arg515=) c.1402-10690A= (n.1402-10690A=) c.1879A= (p.Arg627=) c.2059A= (p.Arg687=) c.1726A= (p.Arg576=) | |
7 | g.117592136A>C | CA457448911 | CFTR | c.1969A>C (p.Arg657=) c.*1683A>C (n.*1683A>C) c.1786A>C (p.Arg596=) c.*269A>C (n.*269A>C) c.*1793A>C (n.*1793A>C) c.1543A>C (p.Arg515=) c.1402-10690A>C (n.1402-10690A>C) c.1879A>C (p.Arg627=) c.2059A>C (p.Arg687=) c.1726A>C (p.Arg576=) | |
7 | g.117592136A>G | CA368979050 | CFTR | c.1969A>G (p.Arg657Gly) c.*1683A>G (n.*1683A>G) c.1786A>G (p.Arg596Gly) c.*269A>G (n.*269A>G) c.*1793A>G (n.*1793A>G) c.1543A>G (p.Arg515Gly) c.1402-10690A>G (n.1402-10690A>G) c.1879A>G (p.Arg627Gly) c.2059A>G (p.Arg687Gly) c.1726A>G (p.Arg576Gly) | gnomAD v4 |
7 | g.117592136A>T | CA368979052 | CFTR | c.1969A>T (p.Arg657Ter) c.*1683A>T (n.*1683A>T) c.1786A>T (p.Arg596Ter) c.*269A>T (n.*269A>T) c.*1793A>T (n.*1793A>T) c.1543A>T (p.Arg515Ter) c.1402-10690A>T (n.1402-10690A>T) c.1879A>T (p.Arg627Ter) c.2059A>T (p.Arg687Ter) c.1726A>T (p.Arg576Ter) | ClinVar dbSNP |
7 | g.117592137del | CA457448912 | CFTR | c.1970del (p.Arg657LysfsTer6) c.*1684del (n.*1684del) c.1787del (p.Arg596LysfsTer6) c.*270del (n.*270del) c.*1794del (n.*1794del) c.1544del (p.Arg515LysfsTer6) c.1402-10689del (n.1402-10689del) c.1880del (p.Arg627LysfsTer6) c.2060del (p.Arg687LysfsTer6) c.1727del (p.Arg576LysfsTer6) | ClinVar dbSNP |
7 | g.117592137G>A | CA368979054 | CFTR | c.1970G>A (p.Arg657Lys) c.*1684G>A (n.*1684G>A) c.1787G>A (p.Arg596Lys) c.*270G>A (n.*270G>A) c.*1794G>A (n.*1794G>A) c.1544G>A (p.Arg515Lys) c.1402-10689G>A (n.1402-10689G>A) c.1880G>A (p.Arg627Lys) c.2060G>A (p.Arg687Lys) c.1727G>A (p.Arg576Lys) | ClinVar |
7 | g.117592137G>C | CA368979058 | CFTR | c.1970G>C (p.Arg657Thr) c.*1684G>C (n.*1684G>C) c.1787G>C (p.Arg596Thr) c.*270G>C (n.*270G>C) c.*1794G>C (n.*1794G>C) c.1544G>C (p.Arg515Thr) c.1402-10689G>C (n.1402-10689G>C) c.1880G>C (p.Arg627Thr) c.2060G>C (p.Arg687Thr) c.1727G>C (p.Arg576Thr) | |
7 | g.117592137G>T | CA368979060 | CFTR | c.1970G>T (p.Arg657Ile) c.*1684G>T (n.*1684G>T) c.1787G>T (p.Arg596Ile) c.*270G>T (n.*270G>T) c.*1794G>T (n.*1794G>T) c.1544G>T (p.Arg515Ile) c.1402-10689G>T (n.1402-10689G>T) c.1880G>T (p.Arg627Ile) c.2060G>T (p.Arg687Ile) c.1727G>T (p.Arg576Ile) | gnomAD v4 |
7 | g.117592138A>C | CA368979063 | CFTR | c.1971A>C (p.Arg657Ser) c.*1685A>C (n.*1685A>C) c.1788A>C (p.Arg596Ser) c.*271A>C (n.*271A>C) c.*1795A>C (n.*1795A>C) c.1545A>C (p.Arg515Ser) c.1402-10688A>C (n.1402-10688A>C) c.1881A>C (p.Arg627Ser) c.2061A>C (p.Arg687Ser) c.1728A>C (p.Arg576Ser) | |
7 | g.117592138A>G | CA457448913 | CFTR | c.1971A>G (p.Arg657=) c.*1685A>G (n.*1685A>G) c.1788A>G (p.Arg596=) c.*271A>G (n.*271A>G) c.*1795A>G (n.*1795A>G) c.1545A>G (p.Arg515=) c.1402-10688A>G (n.1402-10688A>G) c.1881A>G (p.Arg627=) c.2061A>G (p.Arg687=) c.1728A>G (p.Arg576=) | |
7 | g.117592138A>T | CA368979064 | CFTR | c.1971A>T (p.Arg657Ser) c.*1685A>T (n.*1685A>T) c.1788A>T (p.Arg596Ser) c.*271A>T (n.*271A>T) c.*1795A>T (n.*1795A>T) c.1545A>T (p.Arg515Ser) c.1402-10688A>T (n.1402-10688A>T) c.1881A>T (p.Arg627Ser) c.2061A>T (p.Arg687Ser) c.1728A>T (p.Arg576Ser) | |
7 | g.117592139dup | CA2684619355 | CFTR | c.1972dup (p.Arg658LysfsTer7) c.*1686dup (n.*1686dup) c.1789dup (p.Arg597LysfsTer7) c.*272dup (n.*272dup) c.*1796dup (n.*1796dup) c.1546dup (p.Arg516LysfsTer7) c.1402-10687dup (n.1402-10687dup) c.1882dup (p.Arg628LysfsTer7) c.2062dup (p.Arg688LysfsTer7) c.1729dup (p.Arg577LysfsTer7) | ClinVar gnomAD v4 |
7 | g.117592139A>C | CA457448914 | CFTR | c.1972A>C (p.Arg658=) c.*1686A>C (n.*1686A>C) c.1789A>C (p.Arg597=) c.*272A>C (n.*272A>C) c.*1796A>C (n.*1796A>C) c.1546A>C (p.Arg516=) c.1402-10687A>C (n.1402-10687A>C) c.1882A>C (p.Arg628=) c.2062A>C (p.Arg688=) c.1729A>C (p.Arg577=) | |
7 | g.117592139A>G | CA368979068 | CFTR | c.1972A>G (p.Arg658Gly) c.*1686A>G (n.*1686A>G) c.1789A>G (p.Arg597Gly) c.*272A>G (n.*272A>G) c.*1796A>G (n.*1796A>G) c.1546A>G (p.Arg516Gly) c.1402-10687A>G (n.1402-10687A>G) c.1882A>G (p.Arg628Gly) c.2062A>G (p.Arg688Gly) c.1729A>G (p.Arg577Gly) | |
7 | g.117592139A>T | CA368979069 | CFTR | c.1972A>T (p.Arg658Ter) c.*1686A>T (n.*1686A>T) c.1789A>T (p.Arg597Ter) c.*272A>T (n.*272A>T) c.*1796A>T (n.*1796A>T) c.1546A>T (p.Arg516Ter) c.1402-10687A>T (n.1402-10687A>T) c.1882A>T (p.Arg628Ter) c.2062A>T (p.Arg688Ter) c.1729A>T (p.Arg577Ter) | |
7 | g.117592139_117592152delinsAGAAATTCAATCCT | CA1737394341 | CFTR | c.1972_1985delinsAGAAATTCAATCCT (p.Arg658=) c.*1686_*1699delinsAGAAATTCAATCCT (n.*1686_*1699delinsAGAAATTCAATCCT) c.1789_1802delinsAGAAATTCAATCCT (p.Arg597=) c.*272_*285delinsAGAAATTCAATCCT (n.*272_*285delinsAGAAATTCAATCCT) c.*1796_*1809delinsAGAAATTCAATCCT (n.*1796_*1809delinsAGAAATTCAATCCT) c.1546_1559delinsAGAAATTCAATCCT (p.Arg516=) c.1402-10687_1402-10674delinsAGAAATTCAATCCT (n.1402-10687_1402-10674delinsAGAAATTCAATCCT) c.1882_1895delinsAGAAATTCAATCCT (p.Arg628=) c.2062_2075delinsAGAAATTCAATCCT (p.Arg688=) c.1729_1742delinsAGAAATTCAATCCT (p.Arg577=) | |
7 | g.117592140del | CA2580076510 | CFTR | c.1973del (p.Arg658LysfsTer5) c.*1687del (n.*1687del) c.1790del (p.Arg597LysfsTer5) c.*273del (n.*273del) c.*1797del (n.*1797del) c.1547del (p.Arg516LysfsTer5) c.1402-10686del (n.1402-10686del) c.1883del (p.Arg628LysfsTer5) c.2063del (p.Arg688LysfsTer5) c.1730del (p.Arg577LysfsTer5) | ClinVar |
7 | g.117592140G>A | CA368979079 | CFTR | c.1973G>A (p.Arg658Lys) c.*1687G>A (n.*1687G>A) c.1790G>A (p.Arg597Lys) c.*273G>A (n.*273G>A) c.*1797G>A (n.*1797G>A) c.1547G>A (p.Arg516Lys) c.1402-10686G>A (n.1402-10686G>A) c.1883G>A (p.Arg628Lys) c.2063G>A (p.Arg688Lys) c.1730G>A (p.Arg577Lys) | dbSNP COSMIC |
7 | g.117592140G>C | CA368979077 | CFTR | c.1973G>C (p.Arg658Thr) c.*1687G>C (n.*1687G>C) c.1790G>C (p.Arg597Thr) c.*273G>C (n.*273G>C) c.*1797G>C (n.*1797G>C) c.1547G>C (p.Arg516Thr) c.1402-10686G>C (n.1402-10686G>C) c.1883G>C (p.Arg628Thr) c.2063G>C (p.Arg688Thr) c.1730G>C (p.Arg577Thr) | |
7 | g.117592140G>T | CA368979073 | CFTR | c.1973G>T (p.Arg658Ile) c.*1687G>T (n.*1687G>T) c.1790G>T (p.Arg597Ile) c.*273G>T (n.*273G>T) c.*1797G>T (n.*1797G>T) c.1547G>T (p.Arg516Ile) c.1402-10686G>T (n.1402-10686G>T) c.1883G>T (p.Arg628Ile) c.2063G>T (p.Arg688Ile) c.1730G>T (p.Arg577Ile) | |
7 | g.117592140_117592141delinsGA | CA1737394352 | CFTR | c.1973_1974delinsGA (p.Arg658=) c.*1687_*1688delinsGA (n.*1687_*1688delinsGA) c.1790_1791delinsGA (p.Arg597=) c.*273_*274delinsGA (n.*273_*274delinsGA) c.*1797_*1798delinsGA (n.*1797_*1798delinsGA) c.1547_1548delinsGA (p.Arg516=) c.1402-10686_1402-10685delinsGA (n.1402-10686_1402-10685delinsGA) c.1883_1884delinsGA (p.Arg628=) c.2063_2064delinsGA (p.Arg688=) c.1730_1731delinsGA (p.Arg577=) | |
7 | g.117592140_117592152delinsAGAA | CA2695208506 | CFTR | c.1973_1985delinsAGAA (p.Arg658_Leu662delinsLysLys) c.*1687_*1699delinsAGAA (n.*1687_*1699delinsAGAA) c.1790_1802delinsAGAA (p.Arg597_Leu601delinsLysLys) c.*273_*285delinsAGAA (n.*273_*285delinsAGAA) c.*1797_*1809delinsAGAA (n.*1797_*1809delinsAGAA) c.1547_1559delinsAGAA (p.Arg516_Leu520delinsLysLys) c.1402-10686_1402-10674delinsAGAA (n.1402-10686_1402-10674delinsAGAA) c.1883_1895delinsAGAA (p.Arg628_Leu632delinsLysLys) c.2063_2075delinsAGAA (p.Arg688_Leu692delinsLysLys) c.1730_1742delinsAGAA (p.Arg577_Leu581delinsLysLys) | |
7 | g.117592140_117592152delinsAGAAA | CA326721 | CFTR | c.1973_1985delinsAGAAA (p.Arg658LysfsTer4) c.*1687_*1699delinsAGAAA (n.*1687_*1699delinsAGAAA) c.1790_1802delinsAGAAA (p.Arg597LysfsTer4) c.*273_*285delinsAGAAA (n.*273_*285delinsAGAAA) c.*1797_*1809delinsAGAAA (n.*1797_*1809delinsAGAAA) c.1547_1559delinsAGAAA (p.Arg516LysfsTer4) c.1402-10686_1402-10674delinsAGAAA (n.1402-10686_1402-10674delinsAGAAA) c.1883_1895delinsAGAAA (p.Arg628LysfsTer4) c.2063_2075delinsAGAAA (p.Arg688LysfsTer4) c.1730_1742delinsAGAAA (p.Arg577LysfsTer4) | ClinVar dbSNP |
7 | g.117592141A>C | CA368979082 | CFTR | c.1974A>C (p.Arg658Ser) c.*1688A>C (n.*1688A>C) c.1791A>C (p.Arg597Ser) c.*274A>C (n.*274A>C) c.*1798A>C (n.*1798A>C) c.1548A>C (p.Arg516Ser) c.1402-10685A>C (n.1402-10685A>C) c.1884A>C (p.Arg628Ser) c.2064A>C (p.Arg688Ser) c.1731A>C (p.Arg577Ser) | |
7 | g.117592141A>G | CA457448915 | CFTR | c.1974A>G (p.Arg658=) c.*1688A>G (n.*1688A>G) c.1791A>G (p.Arg597=) c.*274A>G (n.*274A>G) c.*1798A>G (n.*1798A>G) c.1548A>G (p.Arg516=) c.1402-10685A>G (n.1402-10685A>G) c.1884A>G (p.Arg628=) c.2064A>G (p.Arg688=) c.1731A>G (p.Arg577=) | ClinVar dbSNP gnomAD v4 |
7 | g.117592141A>T | CA368979084 | CFTR | c.1974A>T (p.Arg658Ser) c.*1688A>T (n.*1688A>T) c.1791A>T (p.Arg597Ser) c.*274A>T (n.*274A>T) c.*1798A>T (n.*1798A>T) c.1548A>T (p.Arg516Ser) c.1402-10685A>T (n.1402-10685A>T) c.1884A>T (p.Arg628Ser) c.2064A>T (p.Arg688Ser) c.1731A>T (p.Arg577Ser) | |
7 | g.117592141_117592142insGAAAA | CA923726133 | CFTR | c.1974_1975insGAAAA (p.Asn659GlufsTer6) c.*1688_*1689insGAAAA (n.*1688_*1689insGAAAA) c.1791_1792insGAAAA (p.Asn598GlufsTer6) c.*274_*275insGAAAA (n.*274_*275insGAAAA) c.*1798_*1799insGAAAA (n.*1798_*1799insGAAAA) c.1548_1549insGAAAA (p.Asn517GlufsTer6) c.1402-10685_1402-10684insGAAAA (n.1402-10685_1402-10684insGAAAA) c.1884_1885insGAAAA (p.Asn629GlufsTer6) c.2064_2065insGAAAA (p.Asn689GlufsTer6) c.1731_1732insGAAAA (p.Asn578GlufsTer6) | |
7 | g.117592143del | CA326722 | CFTR | c.1976del (p.Asn659IlefsTer4) c.*1690del (n.*1690del) c.1793del (p.Asn598IlefsTer4) c.*276del (n.*276del) c.*1800del (n.*1800del) c.1550del (p.Asn517IlefsTer4) c.1402-10683del (n.1402-10683del) c.1886del (p.Asn629IlefsTer4) c.2066del (p.Asn689IlefsTer4) c.1733del (p.Asn578IlefsTer4) | ClinVar dbSNP |
7 | g.117592142A>C | CA368979088 | CFTR | c.1975A>C (p.Asn659His) c.*1689A>C (n.*1689A>C) c.1792A>C (p.Asn598His) c.*275A>C (n.*275A>C) c.*1799A>C (n.*1799A>C) c.1549A>C (p.Asn517His) c.1402-10684A>C (n.1402-10684A>C) c.1885A>C (p.Asn629His) c.2065A>C (p.Asn689His) c.1732A>C (p.Asn578His) | |
7 | g.117592142A>G | CA368979090 | CFTR | c.1975A>G (p.Asn659Asp) c.*1689A>G (n.*1689A>G) c.1792A>G (p.Asn598Asp) c.*275A>G (n.*275A>G) c.*1799A>G (n.*1799A>G) c.1549A>G (p.Asn517Asp) c.1402-10684A>G (n.1402-10684A>G) c.1885A>G (p.Asn629Asp) c.2065A>G (p.Asn689Asp) c.1732A>G (p.Asn578Asp) | |
7 | g.117592142A>T | CA368979092 | CFTR | c.1975A>T (p.Asn659Tyr) c.*1689A>T (n.*1689A>T) c.1792A>T (p.Asn598Tyr) c.*275A>T (n.*275A>T) c.*1799A>T (n.*1799A>T) c.1549A>T (p.Asn517Tyr) c.1402-10684A>T (n.1402-10684A>T) c.1885A>T (p.Asn629Tyr) c.2065A>T (p.Asn689Tyr) c.1732A>T (p.Asn578Tyr) | |
7 | g.117592143A>C | CA368979095 | CFTR | c.1976A>C (p.Asn659Thr) c.*1690A>C (n.*1690A>C) c.1793A>C (p.Asn598Thr) c.*276A>C (n.*276A>C) c.*1800A>C (n.*1800A>C) c.1550A>C (p.Asn517Thr) c.1402-10683A>C (n.1402-10683A>C) c.1886A>C (p.Asn629Thr) c.2066A>C (p.Asn689Thr) c.1733A>C (p.Asn578Thr) | |
7 | g.117592143A>G | CA368979097 | CFTR | c.1976A>G (p.Asn659Ser) c.*1690A>G (n.*1690A>G) c.1793A>G (p.Asn598Ser) c.*276A>G (n.*276A>G) c.*1800A>G (n.*1800A>G) c.1550A>G (p.Asn517Ser) c.1402-10683A>G (n.1402-10683A>G) c.1886A>G (p.Asn629Ser) c.2066A>G (p.Asn689Ser) c.1733A>G (p.Asn578Ser) | |
7 | g.117592143A>T | CA368979099 | CFTR | c.1976A>T (p.Asn659Ile) c.*1690A>T (n.*1690A>T) c.1793A>T (p.Asn598Ile) c.*276A>T (n.*276A>T) c.*1800A>T (n.*1800A>T) c.1550A>T (p.Asn517Ile) c.1402-10683A>T (n.1402-10683A>T) c.1886A>T (p.Asn629Ile) c.2066A>T (p.Asn689Ile) c.1733A>T (p.Asn578Ile) | |
7 | g.117592144T>A | CA368979102 | CFTR | c.1977T>A (p.Asn659Lys) c.*1691T>A (n.*1691T>A) c.1794T>A (p.Asn598Lys) c.*277T>A (n.*277T>A) c.*1801T>A (n.*1801T>A) c.1551T>A (p.Asn517Lys) c.1402-10682T>A (n.1402-10682T>A) c.1887T>A (p.Asn629Lys) c.2067T>A (p.Asn689Lys) c.1734T>A (p.Asn578Lys) | |
7 | g.117592144T>C | CA457448919 | CFTR | c.1977T>C (p.Asn659=) c.*1691T>C (n.*1691T>C) c.1794T>C (p.Asn598=) c.*277T>C (n.*277T>C) c.*1801T>C (n.*1801T>C) c.1551T>C (p.Asn517=) c.1402-10682T>C (n.1402-10682T>C) c.1887T>C (p.Asn629=) c.2067T>C (p.Asn689=) c.1734T>C (p.Asn578=) | |
7 | g.117592144T>G | CA368979104 | CFTR | c.1977T>G (p.Asn659Lys) c.*1691T>G (n.*1691T>G) c.1794T>G (p.Asn598Lys) c.*277T>G (n.*277T>G) c.*1801T>G (n.*1801T>G) c.1551T>G (p.Asn517Lys) c.1402-10682T>G (n.1402-10682T>G) c.1887T>G (p.Asn629Lys) c.2067T>G (p.Asn689Lys) c.1734T>G (p.Asn578Lys) | |
7 | g.117592144_117592152del | CA2684619356 | CFTR | c.1977_1985del (p.Asn659_Leu662delinsLys) c.*1691_*1699del (n.*1691_*1699del) c.1794_1802del (p.Asn598_Leu601delinsLys) c.*277_*285del (n.*277_*285del) c.*1801_*1809del (n.*1801_*1809del) c.1551_1559del (p.Asn517_Leu520delinsLys) c.1402-10682_1402-10674del (n.1402-10682_1402-10674del) c.1887_1895del (p.Asn629_Leu632delinsLys) c.2067_2075del (p.Asn689_Leu692delinsLys) c.1734_1742del (p.Asn578_Leu581delinsLys) | gnomAD v4 |
7 | g.117592145T>A | CA368979112 | CFTR | c.1978T>A (p.Ser660Thr) c.*1692T>A (n.*1692T>A) c.1795T>A (p.Ser599Thr) c.*278T>A (n.*278T>A) c.*1802T>A (n.*1802T>A) c.1552T>A (p.Ser518Thr) c.1402-10681T>A (n.1402-10681T>A) c.1888T>A (p.Ser630Thr) c.2068T>A (p.Ser690Thr) c.1735T>A (p.Ser579Thr) | |
7 | g.117592145T>C | CA368979107 | CFTR | c.1978T>C (p.Ser660Pro) c.*1692T>C (n.*1692T>C) c.1795T>C (p.Ser599Pro) c.*278T>C (n.*278T>C) c.*1802T>C (n.*1802T>C) c.1552T>C (p.Ser518Pro) c.1402-10681T>C (n.1402-10681T>C) c.1888T>C (p.Ser630Pro) c.2068T>C (p.Ser690Pro) c.1735T>C (p.Ser579Pro) | gnomAD v4 |
7 | g.117592145T>G | CA368979110 | CFTR | c.1978T>G (p.Ser660Ala) c.*1692T>G (n.*1692T>G) c.1795T>G (p.Ser599Ala) c.*278T>G (n.*278T>G) c.*1802T>G (n.*1802T>G) c.1552T>G (p.Ser518Ala) c.1402-10681T>G (n.1402-10681T>G) c.1888T>G (p.Ser630Ala) c.2068T>G (p.Ser690Ala) c.1735T>G (p.Ser579Ala) | |
7 | g.117592146C>A | CA368979115 | CFTR | c.1979C>A (p.Ser660Ter) c.*1693C>A (n.*1693C>A) c.1796C>A (p.Ser599Ter) c.*279C>A (n.*279C>A) c.*1803C>A (n.*1803C>A) c.1553C>A (p.Ser518Ter) c.1402-10680C>A (n.1402-10680C>A) c.1889C>A (p.Ser630Ter) c.2069C>A (p.Ser690Ter) c.1736C>A (p.Ser579Ter) | |
7 | g.117592146C= | CA1737394364 | CFTR | c.1979C= (p.Ser660=) c.*1693C= (n.*1693C=) c.1796C= (p.Ser599=) c.*279C= (n.*279C=) c.*1803C= (n.*1803C=) c.1553C= (p.Ser518=) c.1402-10680C= (n.1402-10680C=) c.1889C= (p.Ser630=) c.2069C= (p.Ser690=) c.1736C= (p.Ser579=) | |
7 | g.117592146C>G | CA368979116 | CFTR | c.1979C>G (p.Ser660Ter) c.*1693C>G (n.*1693C>G) c.1796C>G (p.Ser599Ter) c.*279C>G (n.*279C>G) c.*1803C>G (n.*1803C>G) c.1553C>G (p.Ser518Ter) c.1402-10680C>G (n.1402-10680C>G) c.1889C>G (p.Ser630Ter) c.2069C>G (p.Ser690Ter) c.1736C>G (p.Ser579Ter) | ClinVar dbSNP COSMIC |
7 | g.117592146C>T | CA368979118 | CFTR | c.1979C>T (p.Ser660Leu) c.*1693C>T (n.*1693C>T) c.1796C>T (p.Ser599Leu) c.*279C>T (n.*279C>T) c.*1803C>T (n.*1803C>T) c.1553C>T (p.Ser518Leu) c.1402-10680C>T (n.1402-10680C>T) c.1889C>T (p.Ser630Leu) c.2069C>T (p.Ser690Leu) c.1736C>T (p.Ser579Leu) | COSMIC |
7 | g.117592146_117592147delinsCA | CA1737394363 | CFTR | c.1979_1980delinsCA (p.Ser660=) c.*1693_*1694delinsCA (n.*1693_*1694delinsCA) c.1796_1797delinsCA (p.Ser599=) c.*279_*280delinsCA (n.*279_*280delinsCA) c.*1803_*1804delinsCA (n.*1803_*1804delinsCA) c.1553_1554delinsCA (p.Ser518=) c.1402-10680_1402-10679delinsCA (n.1402-10680_1402-10679delinsCA) c.1889_1890delinsCA (p.Ser630=) c.2069_2070delinsCA (p.Ser690=) c.1736_1737delinsCA (p.Ser579=) | |
7 | g.117592147A>C | CA457448920 | CFTR | c.1980A>C (p.Ser660=) c.*1694A>C (n.*1694A>C) c.1797A>C (p.Ser599=) c.*280A>C (n.*280A>C) c.*1804A>C (n.*1804A>C) c.1554A>C (p.Ser518=) c.1402-10679A>C (n.1402-10679A>C) c.1890A>C (p.Ser630=) c.2070A>C (p.Ser690=) c.1737A>C (p.Ser579=) | |
7 | g.117592147A>G | CA457448922 | CFTR | c.1980A>G (p.Ser660=) c.*1694A>G (n.*1694A>G) c.1797A>G (p.Ser599=) c.*280A>G (n.*280A>G) c.*1804A>G (n.*1804A>G) c.1554A>G (p.Ser518=) c.1402-10679A>G (n.1402-10679A>G) c.1890A>G (p.Ser630=) c.2070A>G (p.Ser690=) c.1737A>G (p.Ser579=) | |
7 | g.117592147A>T | CA457448923 | CFTR | c.1980A>T (p.Ser660=) c.*1694A>T (n.*1694A>T) c.1797A>T (p.Ser599=) c.*280A>T (n.*280A>T) c.*1804A>T (n.*1804A>T) c.1554A>T (p.Ser518=) c.1402-10679A>T (n.1402-10679A>T) c.1890A>T (p.Ser630=) c.2070A>T (p.Ser690=) c.1737A>T (p.Ser579=) | |
7 | g.117592148del | CA326723 | CFTR | c.1981del (p.Ile661SerfsTer2) c.*1695del (n.*1695del) c.1798del (p.Ile600SerfsTer2) c.*281del (n.*281del) c.*1805del (n.*1805del) c.1555del (p.Ile519SerfsTer2) c.1402-10678del (n.1402-10678del) c.1891del (p.Ile631SerfsTer2) c.2071del (p.Ile691SerfsTer2) c.1738del (p.Ile580SerfsTer2) | ClinVar dbSNP |
7 | g.117592148A= | CA1737394376 | CFTR | c.1981A= (p.Ile661=) c.*1695A= (n.*1695A=) c.1798A= (p.Ile600=) c.*281A= (n.*281A=) c.*1805A= (n.*1805A=) c.1555A= (p.Ile519=) c.1402-10678A= (n.1402-10678A=) c.1891A= (p.Ile631=) c.2071A= (p.Ile691=) c.1738A= (p.Ile580=) | |
7 | g.117592148A>C | CA368979124 | CFTR | c.1981A>C (p.Ile661Leu) c.*1695A>C (n.*1695A>C) c.1798A>C (p.Ile600Leu) c.*281A>C (n.*281A>C) c.*1805A>C (n.*1805A>C) c.1555A>C (p.Ile519Leu) c.1402-10678A>C (n.1402-10678A>C) c.1891A>C (p.Ile631Leu) c.2071A>C (p.Ile691Leu) c.1738A>C (p.Ile580Leu) | |
7 | g.117592148A>G | CA164947651 | CFTR | c.1981A>G (p.Ile661Val) c.*1695A>G (n.*1695A>G) c.1798A>G (p.Ile600Val) c.*281A>G (n.*281A>G) c.*1805A>G (n.*1805A>G) c.1555A>G (p.Ile519Val) c.1402-10678A>G (n.1402-10678A>G) c.1891A>G (p.Ile631Val) c.2071A>G (p.Ile691Val) c.1738A>G (p.Ile580Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592148A>T | CA368979128 | CFTR | c.1981A>T (p.Ile661Phe) c.*1695A>T (n.*1695A>T) c.1798A>T (p.Ile600Phe) c.*281A>T (n.*281A>T) c.*1805A>T (n.*1805A>T) c.1555A>T (p.Ile519Phe) c.1402-10678A>T (n.1402-10678A>T) c.1891A>T (p.Ile631Phe) c.2071A>T (p.Ile691Phe) c.1738A>T (p.Ile580Phe) | |
7 | g.117592149T>A | CA368979130 | CFTR | c.1982T>A (p.Ile661Asn) c.*1696T>A (n.*1696T>A) c.1799T>A (p.Ile600Asn) c.*282T>A (n.*282T>A) c.*1806T>A (n.*1806T>A) c.1556T>A (p.Ile519Asn) c.1402-10677T>A (n.1402-10677T>A) c.1892T>A (p.Ile631Asn) c.2072T>A (p.Ile691Asn) c.1739T>A (p.Ile580Asn) | |
7 | g.117592149T>C | CA368979132 | CFTR | c.1982T>C (p.Ile661Thr) c.*1696T>C (n.*1696T>C) c.1799T>C (p.Ile600Thr) c.*282T>C (n.*282T>C) c.*1806T>C (n.*1806T>C) c.1556T>C (p.Ile519Thr) c.1402-10677T>C (n.1402-10677T>C) c.1892T>C (p.Ile631Thr) c.2072T>C (p.Ile691Thr) c.1739T>C (p.Ile580Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592149T>G | CA368979133 | CFTR | c.1982T>G (p.Ile661Ser) c.*1696T>G (n.*1696T>G) c.1799T>G (p.Ile600Ser) c.*282T>G (n.*282T>G) c.*1806T>G (n.*1806T>G) c.1556T>G (p.Ile519Ser) c.1402-10677T>G (n.1402-10677T>G) c.1892T>G (p.Ile631Ser) c.2072T>G (p.Ile691Ser) c.1739T>G (p.Ile580Ser) | |
7 | g.117592149T= | CA1737394378 | CFTR | c.1982T= (p.Ile661=) c.*1696T= (n.*1696T=) c.1799T= (p.Ile600=) c.*282T= (n.*282T=) c.*1806T= (n.*1806T=) c.1556T= (p.Ile519=) c.1402-10677T= (n.1402-10677T=) c.1892T= (p.Ile631=) c.2072T= (p.Ile691=) c.1739T= (p.Ile580=) | |
7 | g.117592150C>A | CA457448926 | CFTR | c.1983C>A (p.Ile661=) c.*1697C>A (n.*1697C>A) c.1800C>A (p.Ile600=) c.*283C>A (n.*283C>A) c.*1807C>A (n.*1807C>A) c.1557C>A (p.Ile519=) c.1402-10676C>A (n.1402-10676C>A) c.1893C>A (p.Ile631=) c.2073C>A (p.Ile691=) c.1740C>A (p.Ile580=) | |
7 | g.117592150C= | CA1737394383 | CFTR | c.1983C= (p.Ile661=) c.*1697C= (n.*1697C=) c.1800C= (p.Ile600=) c.*283C= (n.*283C=) c.*1807C= (n.*1807C=) c.1557C= (p.Ile519=) c.1402-10676C= (n.1402-10676C=) c.1893C= (p.Ile631=) c.2073C= (p.Ile691=) c.1740C= (p.Ile580=) | |
7 | g.117592150C>G | CA368979135 | CFTR | c.1983C>G (p.Ile661Met) c.*1697C>G (n.*1697C>G) c.1800C>G (p.Ile600Met) c.*283C>G (n.*283C>G) c.*1807C>G (n.*1807C>G) c.1557C>G (p.Ile519Met) c.1402-10676C>G (n.1402-10676C>G) c.1893C>G (p.Ile631Met) c.2073C>G (p.Ile691Met) c.1740C>G (p.Ile580Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592150C>T | CA457448927 | CFTR | c.1983C>T (p.Ile661=) c.*1697C>T (n.*1697C>T) c.1800C>T (p.Ile600=) c.*283C>T (n.*283C>T) c.*1807C>T (n.*1807C>T) c.1557C>T (p.Ile519=) c.1402-10676C>T (n.1402-10676C>T) c.1893C>T (p.Ile631=) c.2073C>T (p.Ile691=) c.1740C>T (p.Ile580=) | |
7 | g.117592150_117592154delinsCCTAA | CA1737394382 | CFTR | c.1983_1987delinsCCTAA (p.Ile661=) c.*1697_*1701delinsCCTAA (n.*1697_*1701delinsCCTAA) c.1800_1804delinsCCTAA (p.Ile600=) c.*283_*287delinsCCTAA (n.*283_*287delinsCCTAA) c.*1807_*1811delinsCCTAA (n.*1807_*1811delinsCCTAA) c.1557_1561delinsCCTAA (p.Ile519=) c.1402-10676_1402-10672delinsCCTAA (n.1402-10676_1402-10672delinsCCTAA) c.1893_1897delinsCCTAA (p.Ile631=) c.2073_2077delinsCCTAA (p.Ile691=) c.1740_1744delinsCCTAA (p.Ile580=) | |
7 | g.117592151C>A | CA368979136 | CFTR | c.1984C>A (p.Leu662Ile) c.*1698C>A (n.*1698C>A) c.1801C>A (p.Leu601Ile) c.*284C>A (n.*284C>A) c.*1808C>A (n.*1808C>A) c.1558C>A (p.Leu520Ile) c.1402-10675C>A (n.1402-10675C>A) c.1894C>A (p.Leu632Ile) c.2074C>A (p.Leu692Ile) c.1741C>A (p.Leu581Ile) | |
7 | g.117592151C>G | CA368979137 | CFTR | c.1984C>G (p.Leu662Val) c.*1698C>G (n.*1698C>G) c.1801C>G (p.Leu601Val) c.*284C>G (n.*284C>G) c.*1808C>G (n.*1808C>G) c.1558C>G (p.Leu520Val) c.1402-10675C>G (n.1402-10675C>G) c.1894C>G (p.Leu632Val) c.2074C>G (p.Leu692Val) c.1741C>G (p.Leu581Val) | |
7 | g.117592151C>T | CA457448928 | CFTR | c.1984C>T (p.Leu662=) c.*1698C>T (n.*1698C>T) c.1801C>T (p.Leu601=) c.*284C>T (n.*284C>T) c.*1808C>T (n.*1808C>T) c.1558C>T (p.Leu520=) c.1402-10675C>T (n.1402-10675C>T) c.1894C>T (p.Leu632=) c.2074C>T (p.Leu692=) c.1741C>T (p.Leu581=) | |
7 | g.117592153_117592156del | CA326724 | CFTR | c.1986_1989del (p.Thr663ArgfsTer8) c.*1700_*1703del (n.*1700_*1703del) c.1803_1806del (p.Thr602ArgfsTer8) c.*286_*289del (n.*286_*289del) c.*1810_*1813del (n.*1810_*1813del) c.1560_1563del (p.Thr521ArgfsTer8) c.1402-10673_1402-10670del (n.1402-10673_1402-10670del) c.1896_1899del (p.Thr633ArgfsTer8) c.2076_2079del (p.Thr693ArgfsTer8) c.1743_1746del (p.Thr582ArgfsTer8) | ClinVar dbSNP gnomAD v4 |
7 | g.117592152T>A | CA368979138 | CFTR | c.1985T>A (p.Leu662Gln) c.*1699T>A (n.*1699T>A) c.1802T>A (p.Leu601Gln) c.*285T>A (n.*285T>A) c.*1809T>A (n.*1809T>A) c.1559T>A (p.Leu520Gln) c.1402-10674T>A (n.1402-10674T>A) c.1895T>A (p.Leu632Gln) c.2075T>A (p.Leu692Gln) c.1742T>A (p.Leu581Gln) | |
7 | g.117592152T>C | CA368979139 | CFTR | c.1985T>C (p.Leu662Pro) c.*1699T>C (n.*1699T>C) c.1802T>C (p.Leu601Pro) c.*285T>C (n.*285T>C) c.*1809T>C (n.*1809T>C) c.1559T>C (p.Leu520Pro) c.1402-10674T>C (n.1402-10674T>C) c.1895T>C (p.Leu632Pro) c.2075T>C (p.Leu692Pro) c.1742T>C (p.Leu581Pro) | |
7 | g.117592152T>G | CA368979140 | CFTR | c.1985T>G (p.Leu662Arg) c.*1699T>G (n.*1699T>G) c.1802T>G (p.Leu601Arg) c.*285T>G (n.*285T>G) c.*1809T>G (n.*1809T>G) c.1559T>G (p.Leu520Arg) c.1402-10674T>G (n.1402-10674T>G) c.1895T>G (p.Leu632Arg) c.2075T>G (p.Leu692Arg) c.1742T>G (p.Leu581Arg) | gnomAD v4 |
7 | g.117592153A>C | CA457448930 | CFTR | c.1986A>C (p.Leu662=) c.*1700A>C (n.*1700A>C) c.1803A>C (p.Leu601=) c.*286A>C (n.*286A>C) c.*1810A>C (n.*1810A>C) c.1560A>C (p.Leu520=) c.1402-10673A>C (n.1402-10673A>C) c.1896A>C (p.Leu632=) c.2076A>C (p.Leu692=) c.1743A>C (p.Leu581=) | |
7 | g.117592153A>G | CA457448931 | CFTR | c.1986A>G (p.Leu662=) c.*1700A>G (n.*1700A>G) c.1803A>G (p.Leu601=) c.*286A>G (n.*286A>G) c.*1810A>G (n.*1810A>G) c.1560A>G (p.Leu520=) c.1402-10673A>G (n.1402-10673A>G) c.1896A>G (p.Leu632=) c.2076A>G (p.Leu692=) c.1743A>G (p.Leu581=) | |
7 | g.117592153A>T | CA457448933 | CFTR | c.1986A>T (p.Leu662=) c.*1700A>T (n.*1700A>T) c.1803A>T (p.Leu601=) c.*286A>T (n.*286A>T) c.*1810A>T (n.*1810A>T) c.1560A>T (p.Leu520=) c.1402-10673A>T (n.1402-10673A>T) c.1896A>T (p.Leu632=) c.2076A>T (p.Leu692=) c.1743A>T (p.Leu581=) | |
7 | g.117592154A= | CA1737394394 | CFTR | c.1987A= (p.Thr663=) c.*1701A= (n.*1701A=) c.1804A= (p.Thr602=) c.*287A= (n.*287A=) c.*1811A= (n.*1811A=) c.1561A= (p.Thr521=) c.1402-10672A= (n.1402-10672A=) c.1897A= (p.Thr633=) c.2077A= (p.Thr693=) c.1744A= (p.Thr582=) | |
7 | g.117592154A>C | CA368979141 | CFTR | c.1987A>C (p.Thr663Pro) c.*1701A>C (n.*1701A>C) c.1804A>C (p.Thr602Pro) c.*287A>C (n.*287A>C) c.*1811A>C (n.*1811A>C) c.1561A>C (p.Thr521Pro) c.1402-10672A>C (n.1402-10672A>C) c.1897A>C (p.Thr633Pro) c.2077A>C (p.Thr693Pro) c.1744A>C (p.Thr582Pro) | |
7 | g.117592154A>G | CA368979142 | CFTR | c.1987A>G (p.Thr663Ala) c.*1701A>G (n.*1701A>G) c.1804A>G (p.Thr602Ala) c.*287A>G (n.*287A>G) c.*1811A>G (n.*1811A>G) c.1561A>G (p.Thr521Ala) c.1402-10672A>G (n.1402-10672A>G) c.1897A>G (p.Thr633Ala) c.2077A>G (p.Thr693Ala) c.1744A>G (p.Thr582Ala) | |
7 | g.117592154A>T | CA368979143 | CFTR | c.1987A>T (p.Thr663Ser) c.*1701A>T (n.*1701A>T) c.1804A>T (p.Thr602Ser) c.*287A>T (n.*287A>T) c.*1811A>T (n.*1811A>T) c.1561A>T (p.Thr521Ser) c.1402-10672A>T (n.1402-10672A>T) c.1897A>T (p.Thr633Ser) c.2077A>T (p.Thr693Ser) c.1744A>T (p.Thr582Ser) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592155C>A | CA368979144 | CFTR | c.1988C>A (p.Thr663Asn) c.*1702C>A (n.*1702C>A) c.1805C>A (p.Thr602Asn) c.*288C>A (n.*288C>A) c.*1812C>A (n.*1812C>A) c.1562C>A (p.Thr521Asn) c.1402-10671C>A (n.1402-10671C>A) c.1898C>A (p.Thr633Asn) c.2078C>A (p.Thr693Asn) c.1745C>A (p.Thr582Asn) | |
7 | g.117592155C>G | CA368979145 | CFTR | c.1988C>G (p.Thr663Ser) c.*1702C>G (n.*1702C>G) c.1805C>G (p.Thr602Ser) c.*288C>G (n.*288C>G) c.*1812C>G (n.*1812C>G) c.1562C>G (p.Thr521Ser) c.1402-10671C>G (n.1402-10671C>G) c.1898C>G (p.Thr633Ser) c.2078C>G (p.Thr693Ser) c.1745C>G (p.Thr582Ser) | |
7 | g.117592155C>T | CA368979146 | CFTR | c.1988C>T (p.Thr663Ile) c.*1702C>T (n.*1702C>T) c.1805C>T (p.Thr602Ile) c.*288C>T (n.*288C>T) c.*1812C>T (n.*1812C>T) c.1562C>T (p.Thr521Ile) c.1402-10671C>T (n.1402-10671C>T) c.1898C>T (p.Thr633Ile) c.2078C>T (p.Thr693Ile) c.1745C>T (p.Thr582Ile) | |
7 | g.117592156T>A | CA457448939 | CFTR | c.1989T>A (p.Thr663=) c.*1703T>A (n.*1703T>A) c.1806T>A (p.Thr602=) c.*289T>A (n.*289T>A) c.*1813T>A (n.*1813T>A) c.1563T>A (p.Thr521=) c.1402-10670T>A (n.1402-10670T>A) c.1899T>A (p.Thr633=) c.2079T>A (p.Thr693=) c.1746T>A (p.Thr582=) | |
7 | g.117592156T>C | CA457448937 | CFTR | c.1989T>C (p.Thr663=) c.*1703T>C (n.*1703T>C) c.1806T>C (p.Thr602=) c.*289T>C (n.*289T>C) c.*1813T>C (n.*1813T>C) c.1563T>C (p.Thr521=) c.1402-10670T>C (n.1402-10670T>C) c.1899T>C (p.Thr633=) c.2079T>C (p.Thr693=) c.1746T>C (p.Thr582=) | dbSNP |
7 | g.117592156T>G | CA457448934 | CFTR | c.1989T>G (p.Thr663=) c.*1703T>G (n.*1703T>G) c.1806T>G (p.Thr602=) c.*289T>G (n.*289T>G) c.*1813T>G (n.*1813T>G) c.1563T>G (p.Thr521=) c.1402-10670T>G (n.1402-10670T>G) c.1899T>G (p.Thr633=) c.2079T>G (p.Thr693=) c.1746T>G (p.Thr582=) | |
7 | g.117592156T= | CA1737394398 | CFTR | c.1989T= (p.Thr663=) c.*1703T= (n.*1703T=) c.1806T= (p.Thr602=) c.*289T= (n.*289T=) c.*1813T= (n.*1813T=) c.1563T= (p.Thr521=) c.1402-10670T= (n.1402-10670T=) c.1899T= (p.Thr633=) c.2079T= (p.Thr693=) c.1746T= (p.Thr582=) | |
7 | g.117592157G>A | CA368979147 | CFTR | c.1990G>A (p.Glu664Lys) c.*1704G>A (n.*1704G>A) c.1807G>A (p.Glu603Lys) c.*290G>A (n.*290G>A) c.*1814G>A (n.*1814G>A) c.1564G>A (p.Glu522Lys) c.1402-10669G>A (n.1402-10669G>A) c.1900G>A (p.Glu634Lys) c.2080G>A (p.Glu694Lys) c.1747G>A (p.Glu583Lys) | |
7 | g.117592157G>C | CA368979148 | CFTR | c.1990G>C (p.Glu664Gln) c.*1704G>C (n.*1704G>C) c.1807G>C (p.Glu603Gln) c.*290G>C (n.*290G>C) c.*1814G>C (n.*1814G>C) c.1564G>C (p.Glu522Gln) c.1402-10669G>C (n.1402-10669G>C) c.1900G>C (p.Glu634Gln) c.2080G>C (p.Glu694Gln) c.1747G>C (p.Glu583Gln) | ClinVar dbSNP |
7 | g.117592157G= | CA1737394406 | CFTR | c.1990G= (p.Glu664=) c.*1704G= (n.*1704G=) c.1807G= (p.Glu603=) c.*290G= (n.*290G=) c.*1814G= (n.*1814G=) c.1564G= (p.Glu522=) c.1402-10669G= (n.1402-10669G=) c.1900G= (p.Glu634=) c.2080G= (p.Glu694=) c.1747G= (p.Glu583=) | |
7 | g.117592157G>T | CA326725 | CFTR | c.1990G>T (p.Glu664Ter) c.*1704G>T (n.*1704G>T) c.1807G>T (p.Glu603Ter) c.*290G>T (n.*290G>T) c.*1814G>T (n.*1814G>T) c.1564G>T (p.Glu522Ter) c.1402-10669G>T (n.1402-10669G>T) c.1900G>T (p.Glu634Ter) c.2080G>T (p.Glu694Ter) c.1747G>T (p.Glu583Ter) | ClinVar dbSNP |
7 | g.117592158A>C | CA368979149 | CFTR | c.1991A>C (p.Glu664Ala) c.*1705A>C (n.*1705A>C) c.1808A>C (p.Glu603Ala) c.*291A>C (n.*291A>C) c.*1815A>C (n.*1815A>C) c.1565A>C (p.Glu522Ala) c.1402-10668A>C (n.1402-10668A>C) c.1901A>C (p.Glu634Ala) c.2081A>C (p.Glu694Ala) c.1748A>C (p.Glu583Ala) | |
7 | g.117592158A>G | CA368979150 | CFTR | c.1991A>G (p.Glu664Gly) c.*1705A>G (n.*1705A>G) c.1808A>G (p.Glu603Gly) c.*291A>G (n.*291A>G) c.*1815A>G (n.*1815A>G) c.1565A>G (p.Glu522Gly) c.1402-10668A>G (n.1402-10668A>G) c.1901A>G (p.Glu634Gly) c.2081A>G (p.Glu694Gly) c.1748A>G (p.Glu583Gly) | |
7 | g.117592158A>T | CA368979151 | CFTR | c.1991A>T (p.Glu664Val) c.*1705A>T (n.*1705A>T) c.1808A>T (p.Glu603Val) c.*291A>T (n.*291A>T) c.*1815A>T (n.*1815A>T) c.1565A>T (p.Glu522Val) c.1402-10668A>T (n.1402-10668A>T) c.1901A>T (p.Glu634Val) c.2081A>T (p.Glu694Val) c.1748A>T (p.Glu583Val) | |
7 | g.117592159G>A | CA457448941 | CFTR | c.1992G>A (p.Glu664=) c.*1706G>A (n.*1706G>A) c.1809G>A (p.Glu603=) c.*292G>A (n.*292G>A) c.*1816G>A (n.*1816G>A) c.1566G>A (p.Glu522=) c.1402-10667G>A (n.1402-10667G>A) c.1902G>A (p.Glu634=) c.2082G>A (p.Glu694=) c.1749G>A (p.Glu583=) | |
7 | g.117592159G>C | CA368979153 | CFTR | c.1992G>C (p.Glu664Asp) c.*1706G>C (n.*1706G>C) c.1809G>C (p.Glu603Asp) c.*292G>C (n.*292G>C) c.*1816G>C (n.*1816G>C) c.1566G>C (p.Glu522Asp) c.1402-10667G>C (n.1402-10667G>C) c.1902G>C (p.Glu634Asp) c.2082G>C (p.Glu694Asp) c.1749G>C (p.Glu583Asp) | |
7 | g.117592159G= | CA1737394408 | CFTR | c.1992G= (p.Glu664=) c.*1706G= (n.*1706G=) c.1809G= (p.Glu603=) c.*292G= (n.*292G=) c.*1816G= (n.*1816G=) c.1566G= (p.Glu522=) c.1402-10667G= (n.1402-10667G=) c.1902G= (p.Glu634=) c.2082G= (p.Glu694=) c.1749G= (p.Glu583=) | |
7 | g.117592159G>T | CA368979152 | CFTR | c.1992G>T (p.Glu664Asp) c.*1706G>T (n.*1706G>T) c.1809G>T (p.Glu603Asp) c.*292G>T (n.*292G>T) c.*1816G>T (n.*1816G>T) c.1566G>T (p.Glu522Asp) c.1402-10667G>T (n.1402-10667G>T) c.1902G>T (p.Glu634Asp) c.2082G>T (p.Glu694Asp) c.1749G>T (p.Glu583Asp) | ClinVar dbSNP gnomAD v4 |
7 | g.117592160A= | CA1737394414 | CFTR | c.1993A= (p.Thr665=) c.*1707A= (n.*1707A=) c.1810A= (p.Thr604=) c.*293A= (n.*293A=) c.*1817A= (n.*1817A=) c.1567A= (p.Thr523=) c.1402-10666A= (n.1402-10666A=) c.1903A= (p.Thr635=) c.2083A= (p.Thr695=) c.1750A= (p.Thr584=) | |
7 | g.117592160A>C | CA368979154 | CFTR | c.1993A>C (p.Thr665Pro) c.*1707A>C (n.*1707A>C) c.1810A>C (p.Thr604Pro) c.*293A>C (n.*293A>C) c.*1817A>C (n.*1817A>C) c.1567A>C (p.Thr523Pro) c.1402-10666A>C (n.1402-10666A>C) c.1903A>C (p.Thr635Pro) c.2083A>C (p.Thr695Pro) c.1750A>C (p.Thr584Pro) | |
7 | g.117592160A>G | CA368979155 | CFTR | c.1993A>G (p.Thr665Ala) c.*1707A>G (n.*1707A>G) c.1810A>G (p.Thr604Ala) c.*293A>G (n.*293A>G) c.*1817A>G (n.*1817A>G) c.1567A>G (p.Thr523Ala) c.1402-10666A>G (n.1402-10666A>G) c.1903A>G (p.Thr635Ala) c.2083A>G (p.Thr695Ala) c.1750A>G (p.Thr584Ala) | |
7 | g.117592160A>T | CA368979156 | CFTR | c.1993A>T (p.Thr665Ser) c.*1707A>T (n.*1707A>T) c.1810A>T (p.Thr604Ser) c.*293A>T (n.*293A>T) c.*1817A>T (n.*1817A>T) c.1567A>T (p.Thr523Ser) c.1402-10666A>T (n.1402-10666A>T) c.1903A>T (p.Thr635Ser) c.2083A>T (p.Thr695Ser) c.1750A>T (p.Thr584Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592161C>A | CA368979157 | CFTR | c.1994C>A (p.Thr665Asn) c.*1708C>A (n.*1708C>A) c.1811C>A (p.Thr604Asn) c.*294C>A (n.*294C>A) c.*1818C>A (n.*1818C>A) c.1568C>A (p.Thr523Asn) c.1402-10665C>A (n.1402-10665C>A) c.1904C>A (p.Thr635Asn) c.2084C>A (p.Thr695Asn) c.1751C>A (p.Thr584Asn) | dbSNP gnomAD v4 |
7 | g.117592161C= | CA1737394418 | CFTR | c.1994C= (p.Thr665=) c.*1708C= (n.*1708C=) c.1811C= (p.Thr604=) c.*294C= (n.*294C=) c.*1818C= (n.*1818C=) c.1568C= (p.Thr523=) c.1402-10665C= (n.1402-10665C=) c.1904C= (p.Thr635=) c.2084C= (p.Thr695=) c.1751C= (p.Thr584=) | |
7 | g.117592161C>G | CA368979158 | CFTR | c.1994C>G (p.Thr665Ser) c.*1708C>G (n.*1708C>G) c.1811C>G (p.Thr604Ser) c.*294C>G (n.*294C>G) c.*1818C>G (n.*1818C>G) c.1568C>G (p.Thr523Ser) c.1402-10665C>G (n.1402-10665C>G) c.1904C>G (p.Thr635Ser) c.2084C>G (p.Thr695Ser) c.1751C>G (p.Thr584Ser) | |
7 | g.117592161C>T | CA368979159 | CFTR | c.1994C>T (p.Thr665Ile) c.*1708C>T (n.*1708C>T) c.1811C>T (p.Thr604Ile) c.*294C>T (n.*294C>T) c.*1818C>T (n.*1818C>T) c.1568C>T (p.Thr523Ile) c.1402-10665C>T (n.1402-10665C>T) c.1904C>T (p.Thr635Ile) c.2084C>T (p.Thr695Ile) c.1751C>T (p.Thr584Ile) | |
7 | g.117592162C>A | CA457448946 | CFTR | c.1995C>A (p.Thr665=) c.*1709C>A (n.*1709C>A) c.1812C>A (p.Thr604=) c.*295C>A (n.*295C>A) c.*1819C>A (n.*1819C>A) c.1569C>A (p.Thr523=) c.1402-10664C>A (n.1402-10664C>A) c.1905C>A (p.Thr635=) c.2085C>A (p.Thr695=) c.1752C>A (p.Thr584=) | ClinVar |
7 | g.117592162C= | CA1737394420 | CFTR | c.1995C= (p.Thr665=) c.*1709C= (n.*1709C=) c.1812C= (p.Thr604=) c.*295C= (n.*295C=) c.*1819C= (n.*1819C=) c.1569C= (p.Thr523=) c.1402-10664C= (n.1402-10664C=) c.1905C= (p.Thr635=) c.2085C= (p.Thr695=) c.1752C= (p.Thr584=) | |
7 | g.117592162C>G | CA457448947 | CFTR | c.1995C>G (p.Thr665=) c.*1709C>G (n.*1709C>G) c.1812C>G (p.Thr604=) c.*295C>G (n.*295C>G) c.*1819C>G (n.*1819C>G) c.1569C>G (p.Thr523=) c.1402-10664C>G (n.1402-10664C>G) c.1905C>G (p.Thr635=) c.2085C>G (p.Thr695=) c.1752C>G (p.Thr584=) | dbSNP |
7 | g.117592162C>T | CA457448948 | CFTR | c.1995C>T (p.Thr665=) c.*1709C>T (n.*1709C>T) c.1812C>T (p.Thr604=) c.*295C>T (n.*295C>T) c.*1819C>T (n.*1819C>T) c.1569C>T (p.Thr523=) c.1402-10664C>T (n.1402-10664C>T) c.1905C>T (p.Thr635=) c.2085C>T (p.Thr695=) c.1752C>T (p.Thr584=) | |
7 | g.117592163T>A | CA368979160 | CFTR | c.1996T>A (p.Leu666Ile) c.*1710T>A (n.*1710T>A) c.1813T>A (p.Leu605Ile) c.*296T>A (n.*296T>A) c.*1820T>A (n.*1820T>A) c.1570T>A (p.Leu524Ile) c.1402-10663T>A (n.1402-10663T>A) c.1906T>A (p.Leu636Ile) c.2086T>A (p.Leu696Ile) c.1753T>A (p.Leu585Ile) | |
7 | g.117592163T>C | CA457448949 | CFTR | c.1996T>C (p.Leu666=) c.*1710T>C (n.*1710T>C) c.1813T>C (p.Leu605=) c.*296T>C (n.*296T>C) c.*1820T>C (n.*1820T>C) c.1570T>C (p.Leu524=) c.1402-10663T>C (n.1402-10663T>C) c.1906T>C (p.Leu636=) c.2086T>C (p.Leu696=) c.1753T>C (p.Leu585=) | |
7 | g.117592163T>G | CA368979161 | CFTR | c.1996T>G (p.Leu666Val) c.*1710T>G (n.*1710T>G) c.1813T>G (p.Leu605Val) c.*296T>G (n.*296T>G) c.*1820T>G (n.*1820T>G) c.1570T>G (p.Leu524Val) c.1402-10663T>G (n.1402-10663T>G) c.1906T>G (p.Leu636Val) c.2086T>G (p.Leu696Val) c.1753T>G (p.Leu585Val) | |
7 | g.117592164T>A | CA368979162 | CFTR | c.1997T>A (p.Leu666Ter) c.*1711T>A (n.*1711T>A) c.1814T>A (p.Leu605Ter) c.*297T>A (n.*297T>A) c.*1821T>A (n.*1821T>A) c.1571T>A (p.Leu524Ter) c.1402-10662T>A (n.1402-10662T>A) c.1907T>A (p.Leu636Ter) c.2087T>A (p.Leu696Ter) c.1754T>A (p.Leu585Ter) | ClinVar dbSNP |
7 | g.117592164T>C | CA368979163 | CFTR | c.1997T>C (p.Leu666Ser) c.*1711T>C (n.*1711T>C) c.1814T>C (p.Leu605Ser) c.*297T>C (n.*297T>C) c.*1821T>C (n.*1821T>C) c.1571T>C (p.Leu524Ser) c.1402-10662T>C (n.1402-10662T>C) c.1907T>C (p.Leu636Ser) c.2087T>C (p.Leu696Ser) c.1754T>C (p.Leu585Ser) | |
7 | g.117592164T>G | CA368979164 | CFTR | c.1997T>G (p.Leu666Ter) c.*1711T>G (n.*1711T>G) c.1814T>G (p.Leu605Ter) c.*297T>G (n.*297T>G) c.*1821T>G (n.*1821T>G) c.1571T>G (p.Leu524Ter) c.1402-10662T>G (n.1402-10662T>G) c.1907T>G (p.Leu636Ter) c.2087T>G (p.Leu696Ter) c.1754T>G (p.Leu585Ter) | COSMIC |
7 | g.117592164T= | CA1737394424 | CFTR | c.1997T= (p.Leu666=) c.*1711T= (n.*1711T=) c.1814T= (p.Leu605=) c.*297T= (n.*297T=) c.*1821T= (n.*1821T=) c.1571T= (p.Leu524=) c.1402-10662T= (n.1402-10662T=) c.1907T= (p.Leu636=) c.2087T= (p.Leu696=) c.1754T= (p.Leu585=) | |
7 | g.117592165A>C | CA368979165 | CFTR | c.1998A>C (p.Leu666Phe) c.*1712A>C (n.*1712A>C) c.1815A>C (p.Leu605Phe) c.*298A>C (n.*298A>C) c.*1822A>C (n.*1822A>C) c.1572A>C (p.Leu524Phe) c.1402-10661A>C (n.1402-10661A>C) c.1908A>C (p.Leu636Phe) c.2088A>C (p.Leu696Phe) c.1755A>C (p.Leu585Phe) | |
7 | g.117592165A>G | CA457448951 | CFTR | c.1998A>G (p.Leu666=) c.*1712A>G (n.*1712A>G) c.1815A>G (p.Leu605=) c.*298A>G (n.*298A>G) c.*1822A>G (n.*1822A>G) c.1572A>G (p.Leu524=) c.1402-10661A>G (n.1402-10661A>G) c.1908A>G (p.Leu636=) c.2088A>G (p.Leu696=) c.1755A>G (p.Leu585=) | |
7 | g.117592165A>T | CA368979166 | CFTR | c.1998A>T (p.Leu666Phe) c.*1712A>T (n.*1712A>T) c.1815A>T (p.Leu605Phe) c.*298A>T (n.*298A>T) c.*1822A>T (n.*1822A>T) c.1572A>T (p.Leu524Phe) c.1402-10661A>T (n.1402-10661A>T) c.1908A>T (p.Leu636Phe) c.2088A>T (p.Leu696Phe) c.1755A>T (p.Leu585Phe) | ClinVar |
7 | g.117592166C>A | CA368979169 | CFTR | c.1999C>A (p.His667Asn) c.*1713C>A (n.*1713C>A) c.1816C>A (p.His606Asn) c.*299C>A (n.*299C>A) c.*1823C>A (n.*1823C>A) c.1573C>A (p.His525Asn) c.1402-10660C>A (n.1402-10660C>A) c.1909C>A (p.His637Asn) c.2089C>A (p.His697Asn) c.1756C>A (p.His586Asn) | |
7 | g.117592166C= | CA1737394427 | CFTR | c.1999C= (p.His667=) c.*1713C= (n.*1713C=) c.1816C= (p.His606=) c.*299C= (n.*299C=) c.*1823C= (n.*1823C=) c.1573C= (p.His525=) c.1402-10660C= (n.1402-10660C=) c.1909C= (p.His637=) c.2089C= (p.His697=) c.1756C= (p.His586=) | |
7 | g.117592166C>G | CA368979168 | CFTR | c.1999C>G (p.His667Asp) c.*1713C>G (n.*1713C>G) c.1816C>G (p.His606Asp) c.*299C>G (n.*299C>G) c.*1823C>G (n.*1823C>G) c.1573C>G (p.His525Asp) c.1402-10660C>G (n.1402-10660C>G) c.1909C>G (p.His637Asp) c.2089C>G (p.His697Asp) c.1756C>G (p.His586Asp) | |
7 | g.117592166C>T | CA368979167 | CFTR | c.1999C>T (p.His667Tyr) c.*1713C>T (n.*1713C>T) c.1816C>T (p.His606Tyr) c.*299C>T (n.*299C>T) c.*1823C>T (n.*1823C>T) c.1573C>T (p.His525Tyr) c.1402-10660C>T (n.1402-10660C>T) c.1909C>T (p.His637Tyr) c.2089C>T (p.His697Tyr) c.1756C>T (p.His586Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592167A= | CA1737394432 | CFTR | c.2000A= (p.His667=) c.*1714A= (n.*1714A=) c.1817A= (p.His606=) c.*300A= (n.*300A=) c.*1824A= (n.*1824A=) c.1574A= (p.His525=) c.1402-10659A= (n.1402-10659A=) c.1910A= (p.His637=) c.2090A= (p.His697=) c.1757A= (p.His586=) | |
7 | g.117592167A>C | CA368979170 | CFTR | c.2000A>C (p.His667Pro) c.*1714A>C (n.*1714A>C) c.1817A>C (p.His606Pro) c.*300A>C (n.*300A>C) c.*1824A>C (n.*1824A>C) c.1574A>C (p.His525Pro) c.1402-10659A>C (n.1402-10659A>C) c.1910A>C (p.His637Pro) c.2090A>C (p.His697Pro) c.1757A>C (p.His586Pro) | |
7 | g.117592167A>G | CA368979171 | CFTR | c.2000A>G (p.His667Arg) c.*1714A>G (n.*1714A>G) c.1817A>G (p.His606Arg) c.*300A>G (n.*300A>G) c.*1824A>G (n.*1824A>G) c.1574A>G (p.His525Arg) c.1402-10659A>G (n.1402-10659A>G) c.1910A>G (p.His637Arg) c.2090A>G (p.His697Arg) c.1757A>G (p.His586Arg) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
7 | g.117592167A>T | CA368979172 | CFTR | c.2000A>T (p.His667Leu) c.*1714A>T (n.*1714A>T) c.1817A>T (p.His606Leu) c.*300A>T (n.*300A>T) c.*1824A>T (n.*1824A>T) c.1574A>T (p.His525Leu) c.1402-10659A>T (n.1402-10659A>T) c.1910A>T (p.His637Leu) c.2090A>T (p.His697Leu) c.1757A>T (p.His586Leu) | |
7 | g.117592168C>A | CA368979173 | CFTR | c.2001C>A (p.His667Gln) c.*1715C>A (n.*1715C>A) c.1818C>A (p.His606Gln) c.*301C>A (n.*301C>A) c.*1825C>A (n.*1825C>A) c.1575C>A (p.His525Gln) c.1402-10658C>A (n.1402-10658C>A) c.1911C>A (p.His637Gln) c.2091C>A (p.His697Gln) c.1758C>A (p.His586Gln) | |
7 | g.117592168C= | CA1737394435 | CFTR | c.2001C= (p.His667=) c.*1715C= (n.*1715C=) c.1818C= (p.His606=) c.*301C= (n.*301C=) c.*1825C= (n.*1825C=) c.1575C= (p.His525=) c.1402-10658C= (n.1402-10658C=) c.1911C= (p.His637=) c.2091C= (p.His697=) c.1758C= (p.His586=) | |
7 | g.117592168C>G | CA368979174 | CFTR | c.2001C>G (p.His667Gln) c.*1715C>G (n.*1715C>G) c.1818C>G (p.His606Gln) c.*301C>G (n.*301C>G) c.*1825C>G (n.*1825C>G) c.1575C>G (p.His525Gln) c.1402-10658C>G (n.1402-10658C>G) c.1911C>G (p.His637Gln) c.2091C>G (p.His697Gln) c.1758C>G (p.His586Gln) | |
7 | g.117592168C>T | CA4451124 | CFTR | c.2001C>T (p.His667=) c.*1715C>T (n.*1715C>T) c.1818C>T (p.His606=) c.*301C>T (n.*301C>T) c.*1825C>T (n.*1825C>T) c.1575C>T (p.His525=) c.1402-10658C>T (n.1402-10658C>T) c.1911C>T (p.His637=) c.2091C>T (p.His697=) c.1758C>T (p.His586=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592169C>A | CA368979176 | CFTR | c.2002C>A (p.Arg668Ser) c.*1716C>A (n.*1716C>A) c.1819C>A (p.Arg607Ser) c.*302C>A (n.*302C>A) c.*1826C>A (n.*1826C>A) c.1576C>A (p.Arg526Ser) c.1402-10657C>A (n.1402-10657C>A) c.1912C>A (p.Arg638Ser) c.2092C>A (p.Arg698Ser) c.1759C>A (p.Arg587Ser) | dbSNP |
7 | g.117592169C= | CA1737394439 | CFTR | c.2002C= (p.Arg668=) c.*1716C= (n.*1716C=) c.1819C= (p.Arg607=) c.*302C= (n.*302C=) c.*1826C= (n.*1826C=) c.1576C= (p.Arg526=) c.1402-10657C= (n.1402-10657C=) c.1912C= (p.Arg638=) c.2092C= (p.Arg698=) c.1759C= (p.Arg587=) | |
7 | g.117592169C>G | CA368979175 | CFTR | c.2002C>G (p.Arg668Gly) c.*1716C>G (n.*1716C>G) c.1819C>G (p.Arg607Gly) c.*302C>G (n.*302C>G) c.*1826C>G (n.*1826C>G) c.1576C>G (p.Arg526Gly) c.1402-10657C>G (n.1402-10657C>G) c.1912C>G (p.Arg638Gly) c.2092C>G (p.Arg698Gly) c.1759C>G (p.Arg587Gly) | |
7 | g.117592169C>T | CA182840 | CFTR | c.2002C>T (p.Arg668Cys) c.*1716C>T (n.*1716C>T) c.1819C>T (p.Arg607Cys) c.*302C>T (n.*302C>T) c.*1826C>T (n.*1826C>T) c.1576C>T (p.Arg526Cys) c.1402-10657C>T (n.1402-10657C>T) c.1912C>T (p.Arg638Cys) c.2092C>T (p.Arg698Cys) c.1759C>T (p.Arg587Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592170G>A | CA4451125 | CFTR | c.2003G>A (p.Arg668His) c.*1717G>A (n.*1717G>A) c.1820G>A (p.Arg607His) c.*303G>A (n.*303G>A) c.*1827G>A (n.*1827G>A) c.1577G>A (p.Arg526His) c.1402-10656G>A (n.1402-10656G>A) c.1913G>A (p.Arg638His) c.2093G>A (p.Arg698His) c.1760G>A (p.Arg587His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592170G>C | CA368979177 | CFTR | c.2003G>C (p.Arg668Pro) c.*1717G>C (n.*1717G>C) c.1820G>C (p.Arg607Pro) c.*303G>C (n.*303G>C) c.*1827G>C (n.*1827G>C) c.1577G>C (p.Arg526Pro) c.1402-10656G>C (n.1402-10656G>C) c.1913G>C (p.Arg638Pro) c.2093G>C (p.Arg698Pro) c.1760G>C (p.Arg587Pro) | |
7 | g.117592170G= | CA1737394444 | CFTR | c.2003G= (p.Arg668=) c.*1717G= (n.*1717G=) c.1820G= (p.Arg607=) c.*303G= (n.*303G=) c.*1827G= (n.*1827G=) c.1577G= (p.Arg526=) c.1402-10656G= (n.1402-10656G=) c.1913G= (p.Arg638=) c.2093G= (p.Arg698=) c.1760G= (p.Arg587=) | |
7 | g.117592170G>T | CA164947672 | CFTR | c.2003G>T (p.Arg668Leu) c.*1717G>T (n.*1717G>T) c.1820G>T (p.Arg607Leu) c.*303G>T (n.*303G>T) c.*1827G>T (n.*1827G>T) c.1577G>T (p.Arg526Leu) c.1402-10656G>T (n.1402-10656G>T) c.1913G>T (p.Arg638Leu) c.2093G>T (p.Arg698Leu) c.1760G>T (p.Arg587Leu) | dbSNP gnomAD v4 |
7 | g.117592171T>A | CA457448954 | CFTR | c.2004T>A (p.Arg668=) c.*1718T>A (n.*1718T>A) c.1821T>A (p.Arg607=) c.*304T>A (n.*304T>A) c.*1828T>A (n.*1828T>A) c.1578T>A (p.Arg526=) c.1402-10655T>A (n.1402-10655T>A) c.1914T>A (p.Arg638=) c.2094T>A (p.Arg698=) c.1761T>A (p.Arg587=) | |
7 | g.117592171T>C | CA457448955 | CFTR | c.2004T>C (p.Arg668=) c.*1718T>C (n.*1718T>C) c.1821T>C (p.Arg607=) c.*304T>C (n.*304T>C) c.*1828T>C (n.*1828T>C) c.1578T>C (p.Arg526=) c.1402-10655T>C (n.1402-10655T>C) c.1914T>C (p.Arg638=) c.2094T>C (p.Arg698=) c.1761T>C (p.Arg587=) | dbSNP |
7 | g.117592171T>G | CA457448956 | CFTR | c.2004T>G (p.Arg668=) c.*1718T>G (n.*1718T>G) c.1821T>G (p.Arg607=) c.*304T>G (n.*304T>G) c.*1828T>G (n.*1828T>G) c.1578T>G (p.Arg526=) c.1402-10655T>G (n.1402-10655T>G) c.1914T>G (p.Arg638=) c.2094T>G (p.Arg698=) c.1761T>G (p.Arg587=) | |
7 | g.117592171T= | CA1737394450 | CFTR | c.2004T= (p.Arg668=) c.*1718T= (n.*1718T=) c.1821T= (p.Arg607=) c.*304T= (n.*304T=) c.*1828T= (n.*1828T=) c.1578T= (p.Arg526=) c.1402-10655T= (n.1402-10655T=) c.1914T= (p.Arg638=) c.2094T= (p.Arg698=) c.1761T= (p.Arg587=) | |
7 | g.117592172T>A | CA368979178 | CFTR | c.2005T>A (p.Phe669Ile) c.*1719T>A (n.*1719T>A) c.1822T>A (p.Phe608Ile) c.*305T>A (n.*305T>A) c.*1829T>A (n.*1829T>A) c.1579T>A (p.Phe527Ile) c.1402-10654T>A (n.1402-10654T>A) c.1915T>A (p.Phe639Ile) c.2095T>A (p.Phe699Ile) c.1762T>A (p.Phe588Ile) | |
7 | g.117592172T>C | CA368979179 | CFTR | c.2005T>C (p.Phe669Leu) c.*1719T>C (n.*1719T>C) c.1822T>C (p.Phe608Leu) c.*305T>C (n.*305T>C) c.*1829T>C (n.*1829T>C) c.1579T>C (p.Phe527Leu) c.1402-10654T>C (n.1402-10654T>C) c.1915T>C (p.Phe639Leu) c.2095T>C (p.Phe699Leu) c.1762T>C (p.Phe588Leu) | ClinVar dbSNP gnomAD v4 |
7 | g.117592172T>G | CA368979180 | CFTR | c.2005T>G (p.Phe669Val) c.*1719T>G (n.*1719T>G) c.1822T>G (p.Phe608Val) c.*305T>G (n.*305T>G) c.*1829T>G (n.*1829T>G) c.1579T>G (p.Phe527Val) c.1402-10654T>G (n.1402-10654T>G) c.1915T>G (p.Phe639Val) c.2095T>G (p.Phe699Val) c.1762T>G (p.Phe588Val) | |
7 | g.117592173T>A | CA368979181 | CFTR | c.2006T>A (p.Phe669Tyr) c.*1720T>A (n.*1720T>A) c.1823T>A (p.Phe608Tyr) c.*306T>A (n.*306T>A) c.*1830T>A (n.*1830T>A) c.1580T>A (p.Phe527Tyr) c.1402-10653T>A (n.1402-10653T>A) c.1916T>A (p.Phe639Tyr) c.2096T>A (p.Phe699Tyr) c.1763T>A (p.Phe588Tyr) | |
7 | g.117592173T>C | CA368979183 | CFTR | c.2006T>C (p.Phe669Ser) c.*1720T>C (n.*1720T>C) c.1823T>C (p.Phe608Ser) c.*306T>C (n.*306T>C) c.*1830T>C (n.*1830T>C) c.1580T>C (p.Phe527Ser) c.1402-10653T>C (n.1402-10653T>C) c.1916T>C (p.Phe639Ser) c.2096T>C (p.Phe699Ser) c.1763T>C (p.Phe588Ser) | |
7 | g.117592173T>G | CA368979182 | CFTR | c.2006T>G (p.Phe669Cys) c.*1720T>G (n.*1720T>G) c.1823T>G (p.Phe608Cys) c.*306T>G (n.*306T>G) c.*1830T>G (n.*1830T>G) c.1580T>G (p.Phe527Cys) c.1402-10653T>G (n.1402-10653T>G) c.1916T>G (p.Phe639Cys) c.2096T>G (p.Phe699Cys) c.1763T>G (p.Phe588Cys) | |
7 | g.117592174C>A | CA368979190 | CFTR | c.2007C>A (p.Phe669Leu) c.*1721C>A (n.*1721C>A) c.1824C>A (p.Phe608Leu) c.*307C>A (n.*307C>A) c.*1831C>A (n.*1831C>A) c.1581C>A (p.Phe527Leu) c.1402-10652C>A (n.1402-10652C>A) c.1917C>A (p.Phe639Leu) c.2097C>A (p.Phe699Leu) c.1764C>A (p.Phe588Leu) | |
7 | g.117592174C= | CA1737394454 | CFTR | c.2007C= (p.Phe669=) c.*1721C= (n.*1721C=) c.1824C= (p.Phe608=) c.*307C= (n.*307C=) c.*1831C= (n.*1831C=) c.1581C= (p.Phe527=) c.1402-10652C= (n.1402-10652C=) c.1917C= (p.Phe639=) c.2097C= (p.Phe699=) c.1764C= (p.Phe588=) | |
7 | g.117592174C>G | CA368979192 | CFTR | c.2007C>G (p.Phe669Leu) c.*1721C>G (n.*1721C>G) c.1824C>G (p.Phe608Leu) c.*307C>G (n.*307C>G) c.*1831C>G (n.*1831C>G) c.1581C>G (p.Phe527Leu) c.1402-10652C>G (n.1402-10652C>G) c.1917C>G (p.Phe639Leu) c.2097C>G (p.Phe699Leu) c.1764C>G (p.Phe588Leu) | |
7 | g.117592174C>T | CA164947676 | CFTR | c.2007C>T (p.Phe669=) c.*1721C>T (n.*1721C>T) c.1824C>T (p.Phe608=) c.*307C>T (n.*307C>T) c.*1831C>T (n.*1831C>T) c.1581C>T (p.Phe527=) c.1402-10652C>T (n.1402-10652C>T) c.1917C>T (p.Phe639=) c.2097C>T (p.Phe699=) c.1764C>T (p.Phe588=) | ClinVar dbSNP gnomAD v4 |
7 | g.117592175T>A | CA368979194 | CFTR | c.2008T>A (p.Ser670Thr) c.*1722T>A (n.*1722T>A) c.1825T>A (p.Ser609Thr) c.*308T>A (n.*308T>A) c.*1832T>A (n.*1832T>A) c.1582T>A (p.Ser528Thr) c.1402-10651T>A (n.1402-10651T>A) c.1918T>A (p.Ser640Thr) c.2098T>A (p.Ser700Thr) c.1765T>A (p.Ser589Thr) | |
7 | g.117592175T>C | CA368979196 | CFTR | c.2008T>C (p.Ser670Pro) c.*1722T>C (n.*1722T>C) c.1825T>C (p.Ser609Pro) c.*308T>C (n.*308T>C) c.*1832T>C (n.*1832T>C) c.1582T>C (p.Ser528Pro) c.1402-10651T>C (n.1402-10651T>C) c.1918T>C (p.Ser640Pro) c.2098T>C (p.Ser700Pro) c.1765T>C (p.Ser589Pro) | |
7 | g.117592175T>G | CA368979200 | CFTR | c.2008T>G (p.Ser670Ala) c.*1722T>G (n.*1722T>G) c.1825T>G (p.Ser609Ala) c.*308T>G (n.*308T>G) c.*1832T>G (n.*1832T>G) c.1582T>G (p.Ser528Ala) c.1402-10651T>G (n.1402-10651T>G) c.1918T>G (p.Ser640Ala) c.2098T>G (p.Ser700Ala) c.1765T>G (p.Ser589Ala) | COSMIC |
7 | g.117592176C>A | CA368979203 | CFTR | c.2009C>A (p.Ser670Ter) c.*1723C>A (n.*1723C>A) c.1826C>A (p.Ser609Ter) c.*309C>A (n.*309C>A) c.*1833C>A (n.*1833C>A) c.1583C>A (p.Ser528Ter) c.1402-10650C>A (n.1402-10650C>A) c.1919C>A (p.Ser640Ter) c.2099C>A (p.Ser700Ter) c.1766C>A (p.Ser589Ter) | |
7 | g.117592176C= | CA1737394457 | CFTR | c.2009C= (p.Ser670=) c.*1723C= (n.*1723C=) c.1826C= (p.Ser609=) c.*309C= (n.*309C=) c.*1833C= (n.*1833C=) c.1583C= (p.Ser528=) c.1402-10650C= (n.1402-10650C=) c.1919C= (p.Ser640=) c.2099C= (p.Ser700=) c.1766C= (p.Ser589=) | |
7 | g.117592176C>G | CA368979205 | CFTR | c.2009C>G (p.Ser670Ter) c.*1723C>G (n.*1723C>G) c.1826C>G (p.Ser609Ter) c.*309C>G (n.*309C>G) c.*1833C>G (n.*1833C>G) c.1583C>G (p.Ser528Ter) c.1402-10650C>G (n.1402-10650C>G) c.1919C>G (p.Ser640Ter) c.2099C>G (p.Ser700Ter) c.1766C>G (p.Ser589Ter) | |
7 | g.117592176C>T | CA368979208 | CFTR | c.2009C>T (p.Ser670Leu) c.*1723C>T (n.*1723C>T) c.1826C>T (p.Ser609Leu) c.*309C>T (n.*309C>T) c.*1833C>T (n.*1833C>T) c.1583C>T (p.Ser528Leu) c.1402-10650C>T (n.1402-10650C>T) c.1919C>T (p.Ser640Leu) c.2099C>T (p.Ser700Leu) c.1766C>T (p.Ser589Leu) | ClinVar |
7 | g.117592177A>C | CA457448995 | CFTR | c.2010A>C (p.Ser670=) c.*1724A>C (n.*1724A>C) c.1827A>C (p.Ser609=) c.*310A>C (n.*310A>C) c.*1834A>C (n.*1834A>C) c.1584A>C (p.Ser528=) c.1402-10649A>C (n.1402-10649A>C) c.1920A>C (p.Ser640=) c.2100A>C (p.Ser700=) c.1767A>C (p.Ser589=) | ClinVar |
7 | g.117592177A>G | CA457448994 | CFTR | c.2010A>G (p.Ser670=) c.*1724A>G (n.*1724A>G) c.1827A>G (p.Ser609=) c.*310A>G (n.*310A>G) c.*1834A>G (n.*1834A>G) c.1584A>G (p.Ser528=) c.1402-10649A>G (n.1402-10649A>G) c.1920A>G (p.Ser640=) c.2100A>G (p.Ser700=) c.1767A>G (p.Ser589=) | |
7 | g.117592177A>T | CA457448993 | CFTR | c.2010A>T (p.Ser670=) c.*1724A>T (n.*1724A>T) c.1827A>T (p.Ser609=) c.*310A>T (n.*310A>T) c.*1834A>T (n.*1834A>T) c.1584A>T (p.Ser528=) c.1402-10649A>T (n.1402-10649A>T) c.1920A>T (p.Ser640=) c.2100A>T (p.Ser700=) c.1767A>T (p.Ser589=) | |
7 | g.117592177dup | CA326727 | CFTR | c.2010dup (p.Leu671IlefsTer18) c.*1724dup (n.*1724dup) c.1827dup (p.Leu610IlefsTer18) c.*310dup (n.*310dup) c.*1834dup (n.*1834dup) c.1584dup (p.Leu529IlefsTer18) c.1402-10649dup (n.1402-10649dup) c.1920dup (p.Leu641IlefsTer18) c.2100dup (p.Leu701IlefsTer18) c.1767dup (p.Leu590IlefsTer18) | dbSNP |
7 | g.117592177_117592178delinsAT | CA1737394460 | CFTR | c.2010_2011delinsAT (p.Ser670=) c.*1724_*1725delinsAT (n.*1724_*1725delinsAT) c.1827_1828delinsAT (p.Ser609=) c.*310_*311delinsAT (n.*310_*311delinsAT) c.*1834_*1835delinsAT (n.*1834_*1835delinsAT) c.1584_1585delinsAT (p.Ser528=) c.1402-10649_1402-10648delinsAT (n.1402-10649_1402-10648delinsAT) c.1920_1921delinsAT (p.Ser640=) c.2100_2101delinsAT (p.Ser700=) c.1767_1768delinsAT (p.Ser589=) | |
7 | g.117592178T>A | CA368979209 | CFTR | c.2011T>A (p.Leu671Ile) c.*1725T>A (n.*1725T>A) c.1828T>A (p.Leu610Ile) c.*311T>A (n.*311T>A) c.*1835T>A (n.*1835T>A) c.1585T>A (p.Leu529Ile) c.1402-10648T>A (n.1402-10648T>A) c.1921T>A (p.Leu641Ile) c.2101T>A (p.Leu701Ile) c.1768T>A (p.Leu590Ile) | |
7 | g.117592178T>C | CA457448996 | CFTR | c.2011T>C (p.Leu671=) c.*1725T>C (n.*1725T>C) c.1828T>C (p.Leu610=) c.*311T>C (n.*311T>C) c.*1835T>C (n.*1835T>C) c.1585T>C (p.Leu529=) c.1402-10648T>C (n.1402-10648T>C) c.1921T>C (p.Leu641=) c.2101T>C (p.Leu701=) c.1768T>C (p.Leu590=) | |
7 | g.117592178T>G | CA368979211 | CFTR | c.2011T>G (p.Leu671Val) c.*1725T>G (n.*1725T>G) c.1828T>G (p.Leu610Val) c.*311T>G (n.*311T>G) c.*1835T>G (n.*1835T>G) c.1585T>G (p.Leu529Val) c.1402-10648T>G (n.1402-10648T>G) c.1921T>G (p.Leu641Val) c.2101T>G (p.Leu701Val) c.1768T>G (p.Leu590Val) | |
7 | g.117592179del | CA342837 | CFTR | c.2012del (p.Leu671Ter) c.*1726del (n.*1726del) c.1829del (p.Leu610Ter) c.*312del (n.*312del) c.*1836del (n.*1836del) c.1586del (p.Leu529Ter) c.1402-10647del (n.1402-10647del) c.1922del (p.Leu641Ter) c.2102del (p.Leu701Ter) c.1769del (p.Leu590Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592179T>A | CA368979220 | CFTR | c.2012T>A (p.Leu671Ter) c.*1726T>A (n.*1726T>A) c.1829T>A (p.Leu610Ter) c.*312T>A (n.*312T>A) c.*1836T>A (n.*1836T>A) c.1586T>A (p.Leu529Ter) c.1402-10647T>A (n.1402-10647T>A) c.1922T>A (p.Leu641Ter) c.2102T>A (p.Leu701Ter) c.1769T>A (p.Leu590Ter) | ClinVar dbSNP |
7 | g.117592179T>C | CA368979218 | CFTR | c.2012T>C (p.Leu671Ser) c.*1726T>C (n.*1726T>C) c.1829T>C (p.Leu610Ser) c.*312T>C (n.*312T>C) c.*1836T>C (n.*1836T>C) c.1586T>C (p.Leu529Ser) c.1402-10647T>C (n.1402-10647T>C) c.1922T>C (p.Leu641Ser) c.2102T>C (p.Leu701Ser) c.1769T>C (p.Leu590Ser) | COSMIC |
7 | g.117592179T>G | CA368979222 | CFTR | c.2012T>G (p.Leu671Ter) c.*1726T>G (n.*1726T>G) c.1829T>G (p.Leu610Ter) c.*312T>G (n.*312T>G) c.*1836T>G (n.*1836T>G) c.1586T>G (p.Leu529Ter) c.1402-10647T>G (n.1402-10647T>G) c.1922T>G (p.Leu641Ter) c.2102T>G (p.Leu701Ter) c.1769T>G (p.Leu590Ter) | |
7 | g.117592179_117592182delinsTAGA | CA1737394470 | CFTR | c.2012_2015delinsTAGA (p.Leu671=) c.*1726_*1729delinsTAGA (n.*1726_*1729delinsTAGA) c.1829_1832delinsTAGA (p.Leu610=) c.*312_*315delinsTAGA (n.*312_*315delinsTAGA) c.*1836_*1839delinsTAGA (n.*1836_*1839delinsTAGA) c.1586_1589delinsTAGA (p.Leu529=) c.1402-10647_1402-10644delinsTAGA (n.1402-10647_1402-10644delinsTAGA) c.1922_1925delinsTAGA (p.Leu641=) c.2102_2105delinsTAGA (p.Leu701=) c.1769_1772delinsTAGA (p.Leu590=) | |
7 | g.117592180A>C | CA368979228 | CFTR | c.2013A>C (p.Leu671Phe) c.*1727A>C (n.*1727A>C) c.1830A>C (p.Leu610Phe) c.*313A>C (n.*313A>C) c.*1837A>C (n.*1837A>C) c.1587A>C (p.Leu529Phe) c.1402-10646A>C (n.1402-10646A>C) c.1923A>C (p.Leu641Phe) c.2103A>C (p.Leu701Phe) c.1770A>C (p.Leu590Phe) | |
7 | g.117592180A>G | CA457448997 | CFTR | c.2013A>G (p.Leu671=) c.*1727A>G (n.*1727A>G) c.1830A>G (p.Leu610=) c.*313A>G (n.*313A>G) c.*1837A>G (n.*1837A>G) c.1587A>G (p.Leu529=) c.1402-10646A>G (n.1402-10646A>G) c.1923A>G (p.Leu641=) c.2103A>G (p.Leu701=) c.1770A>G (p.Leu590=) | gnomAD v4 |
7 | g.117592180A>T | CA368979226 | CFTR | c.2013A>T (p.Leu671Phe) c.*1727A>T (n.*1727A>T) c.1830A>T (p.Leu610Phe) c.*313A>T (n.*313A>T) c.*1837A>T (n.*1837A>T) c.1587A>T (p.Leu529Phe) c.1402-10646A>T (n.1402-10646A>T) c.1923A>T (p.Leu641Phe) c.2103A>T (p.Leu701Phe) c.1770A>T (p.Leu590Phe) | |
7 | g.117592182_117592184del | CA326728 | CFTR | c.2015_2017del (p.Glu672del) c.*1729_*1731del (n.*1729_*1731del) c.1832_1834del (p.Glu611del) c.*315_*317del (n.*315_*317del) c.*1839_*1841del (n.*1839_*1841del) c.1589_1591del (p.Glu530del) c.1402-10644_1402-10642del (n.1402-10644_1402-10642del) c.1925_1927del (p.Glu642del) c.2105_2107del (p.Glu702del) c.1772_1774del (p.Glu591del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592181G>A | CA4451126 | CFTR | c.2014G>A (p.Glu672Lys) c.*1728G>A (n.*1728G>A) c.1831G>A (p.Glu611Lys) c.*314G>A (n.*314G>A) c.*1838G>A (n.*1838G>A) c.1588G>A (p.Glu530Lys) c.1402-10645G>A (n.1402-10645G>A) c.1924G>A (p.Glu642Lys) c.2104G>A (p.Glu702Lys) c.1771G>A (p.Glu591Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592181G>C | CA368979232 | CFTR | c.2014G>C (p.Glu672Gln) c.*1728G>C (n.*1728G>C) c.1831G>C (p.Glu611Gln) c.*314G>C (n.*314G>C) c.*1838G>C (n.*1838G>C) c.1588G>C (p.Glu530Gln) c.1402-10645G>C (n.1402-10645G>C) c.1924G>C (p.Glu642Gln) c.2104G>C (p.Glu702Gln) c.1771G>C (p.Glu591Gln) | |
7 | g.117592181G= | CA1737394477 | CFTR | c.2014G= (p.Glu672=) c.*1728G= (n.*1728G=) c.1831G= (p.Glu611=) c.*314G= (n.*314G=) c.*1838G= (n.*1838G=) c.1588G= (p.Glu530=) c.1402-10645G= (n.1402-10645G=) c.1924G= (p.Glu642=) c.2104G= (p.Glu702=) c.1771G= (p.Glu591=) | |
7 | g.117592181G>T | CA368979234 | CFTR | c.2014G>T (p.Glu672Ter) c.*1728G>T (n.*1728G>T) c.1831G>T (p.Glu611Ter) c.*314G>T (n.*314G>T) c.*1838G>T (n.*1838G>T) c.1588G>T (p.Glu530Ter) c.1402-10645G>T (n.1402-10645G>T) c.1924G>T (p.Glu642Ter) c.2104G>T (p.Glu702Ter) c.1771G>T (p.Glu591Ter) | |
7 | g.117592182A>C | CA368979238 | CFTR | c.2015A>C (p.Glu672Ala) c.*1729A>C (n.*1729A>C) c.1832A>C (p.Glu611Ala) c.*315A>C (n.*315A>C) c.*1839A>C (n.*1839A>C) c.1589A>C (p.Glu530Ala) c.1402-10644A>C (n.1402-10644A>C) c.1925A>C (p.Glu642Ala) c.2105A>C (p.Glu702Ala) c.1772A>C (p.Glu591Ala) | gnomAD v4 |
7 | g.117592182A>G | CA368979240 | CFTR | c.2015A>G (p.Glu672Gly) c.*1729A>G (n.*1729A>G) c.1832A>G (p.Glu611Gly) c.*315A>G (n.*315A>G) c.*1839A>G (n.*1839A>G) c.1589A>G (p.Glu530Gly) c.1402-10644A>G (n.1402-10644A>G) c.1925A>G (p.Glu642Gly) c.2105A>G (p.Glu702Gly) c.1772A>G (p.Glu591Gly) | |
7 | g.117592182A>T | CA368979242 | CFTR | c.2015A>T (p.Glu672Val) c.*1729A>T (n.*1729A>T) c.1832A>T (p.Glu611Val) c.*315A>T (n.*315A>T) c.*1839A>T (n.*1839A>T) c.1589A>T (p.Glu530Val) c.1402-10644A>T (n.1402-10644A>T) c.1925A>T (p.Glu642Val) c.2105A>T (p.Glu702Val) c.1772A>T (p.Glu591Val) | |
7 | g.117592183A= | CA1737394479 | CFTR | c.2016A= (p.Glu672=) c.*1730A= (n.*1730A=) c.1833A= (p.Glu611=) c.*316A= (n.*316A=) c.*1840A= (n.*1840A=) c.1590A= (p.Glu530=) c.1402-10643A= (n.1402-10643A=) c.1926A= (p.Glu642=) c.2106A= (p.Glu702=) c.1773A= (p.Glu591=) | |
7 | g.117592183A>C | CA368979243 | CFTR | c.2016A>C (p.Glu672Asp) c.*1730A>C (n.*1730A>C) c.1833A>C (p.Glu611Asp) c.*316A>C (n.*316A>C) c.*1840A>C (n.*1840A>C) c.1590A>C (p.Glu530Asp) c.1402-10643A>C (n.1402-10643A>C) c.1926A>C (p.Glu642Asp) c.2106A>C (p.Glu702Asp) c.1773A>C (p.Glu591Asp) | |
7 | g.117592183A>G | CA457448998 | CFTR | c.2016A>G (p.Glu672=) c.*1730A>G (n.*1730A>G) c.1833A>G (p.Glu611=) c.*316A>G (n.*316A>G) c.*1840A>G (n.*1840A>G) c.1590A>G (p.Glu530=) c.1402-10643A>G (n.1402-10643A>G) c.1926A>G (p.Glu642=) c.2106A>G (p.Glu702=) c.1773A>G (p.Glu591=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592183A>T | CA368979249 | CFTR | c.2016A>T (p.Glu672Asp) c.*1730A>T (n.*1730A>T) c.1833A>T (p.Glu611Asp) c.*316A>T (n.*316A>T) c.*1840A>T (n.*1840A>T) c.1590A>T (p.Glu530Asp) c.1402-10643A>T (n.1402-10643A>T) c.1926A>T (p.Glu642Asp) c.2106A>T (p.Glu702Asp) c.1773A>T (p.Glu591Asp) | |
7 | g.117592184G>A | CA368979251 | CFTR | c.2017G>A (p.Gly673Arg) c.*1731G>A (n.*1731G>A) c.1834G>A (p.Gly612Arg) c.*317G>A (n.*317G>A) c.*1841G>A (n.*1841G>A) c.1591G>A (p.Gly531Arg) c.1402-10642G>A (n.1402-10642G>A) c.1927G>A (p.Gly643Arg) c.2107G>A (p.Gly703Arg) c.1774G>A (p.Gly592Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592184G>C | CA368979254 | CFTR | c.2017G>C (p.Gly673Arg) c.*1731G>C (n.*1731G>C) c.1834G>C (p.Gly612Arg) c.*317G>C (n.*317G>C) c.*1841G>C (n.*1841G>C) c.1591G>C (p.Gly531Arg) c.1402-10642G>C (n.1402-10642G>C) c.1927G>C (p.Gly643Arg) c.2107G>C (p.Gly703Arg) c.1774G>C (p.Gly592Arg) | |
7 | g.117592184G= | CA1737394484 | CFTR | c.2017G= (p.Gly673=) c.*1731G= (n.*1731G=) c.1834G= (p.Gly612=) c.*317G= (n.*317G=) c.*1841G= (n.*1841G=) c.1591G= (p.Gly531=) c.1402-10642G= (n.1402-10642G=) c.1927G= (p.Gly643=) c.2107G= (p.Gly703=) c.1774G= (p.Gly592=) | |
7 | g.117592184G>T | CA326730 | CFTR | c.2017G>T (p.Gly673Ter) c.*1731G>T (n.*1731G>T) c.1834G>T (p.Gly612Ter) c.*317G>T (n.*317G>T) c.*1841G>T (n.*1841G>T) c.1591G>T (p.Gly531Ter) c.1402-10642G>T (n.1402-10642G>T) c.1927G>T (p.Gly643Ter) c.2107G>T (p.Gly703Ter) c.1774G>T (p.Gly592Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592185G>A | CA368979260 | CFTR | c.2018G>A (p.Gly673Glu) c.*1732G>A (n.*1732G>A) c.1835G>A (p.Gly612Glu) c.*318G>A (n.*318G>A) c.*1842G>A (n.*1842G>A) c.1592G>A (p.Gly531Glu) c.1402-10641G>A (n.1402-10641G>A) c.1928G>A (p.Gly643Glu) c.2108G>A (p.Gly703Glu) c.1775G>A (p.Gly592Glu) | |
7 | g.117592185G>C | CA368979255 | CFTR | c.2018G>C (p.Gly673Ala) c.*1732G>C (n.*1732G>C) c.1835G>C (p.Gly612Ala) c.*318G>C (n.*318G>C) c.*1842G>C (n.*1842G>C) c.1592G>C (p.Gly531Ala) c.1402-10641G>C (n.1402-10641G>C) c.1928G>C (p.Gly643Ala) c.2108G>C (p.Gly703Ala) c.1775G>C (p.Gly592Ala) | |
7 | g.117592185G>T | CA368979258 | CFTR | c.2018G>T (p.Gly673Val) c.*1732G>T (n.*1732G>T) c.1835G>T (p.Gly612Val) c.*318G>T (n.*318G>T) c.*1842G>T (n.*1842G>T) c.1592G>T (p.Gly531Val) c.1402-10641G>T (n.1402-10641G>T) c.1928G>T (p.Gly643Val) c.2108G>T (p.Gly703Val) c.1775G>T (p.Gly592Val) | |
7 | g.117592186A>C | CA457449000 | CFTR | c.2019A>C (p.Gly673=) c.*1733A>C (n.*1733A>C) c.1836A>C (p.Gly612=) c.*319A>C (n.*319A>C) c.*1843A>C (n.*1843A>C) c.1593A>C (p.Gly531=) c.1402-10640A>C (n.1402-10640A>C) c.1929A>C (p.Gly643=) c.2109A>C (p.Gly703=) c.1776A>C (p.Gly592=) | |
7 | g.117592186A>G | CA457449001 | CFTR | c.2019A>G (p.Gly673=) c.*1733A>G (n.*1733A>G) c.1836A>G (p.Gly612=) c.*319A>G (n.*319A>G) c.*1843A>G (n.*1843A>G) c.1593A>G (p.Gly531=) c.1402-10640A>G (n.1402-10640A>G) c.1929A>G (p.Gly643=) c.2109A>G (p.Gly703=) c.1776A>G (p.Gly592=) | ClinVar dbSNP |
7 | g.117592186A>T | CA457448999 | CFTR | c.2019A>T (p.Gly673=) c.*1733A>T (n.*1733A>T) c.1836A>T (p.Gly612=) c.*319A>T (n.*319A>T) c.*1843A>T (n.*1843A>T) c.1593A>T (p.Gly531=) c.1402-10640A>T (n.1402-10640A>T) c.1929A>T (p.Gly643=) c.2109A>T (p.Gly703=) c.1776A>T (p.Gly592=) | |
7 | g.117592186_117592189dup | CA2825001521 | CFTR | c.2019_2022dup (p.Ala675ArgfsTer15) c.*1733_*1736dup (n.*1733_*1736dup) c.1836_1839dup (p.Ala614ArgfsTer15) c.*319_*322dup (n.*319_*322dup) c.*1843_*1846dup (n.*1843_*1846dup) c.1593_1596dup (p.Ala533ArgfsTer15) c.1402-10640_1402-10637dup (n.1402-10640_1402-10637dup) c.1929_1932dup (p.Ala645ArgfsTer15) c.2109_2112dup (p.Ala705ArgfsTer15) c.1776_1779dup (p.Ala594ArgfsTer15) | ClinVar |
7 | g.117592187G>A | CA368979261 | CFTR | c.2020G>A (p.Asp674Asn) c.*1734G>A (n.*1734G>A) c.1837G>A (p.Asp613Asn) c.*320G>A (n.*320G>A) c.*1844G>A (n.*1844G>A) c.1594G>A (p.Asp532Asn) c.1402-10639G>A (n.1402-10639G>A) c.1930G>A (p.Asp644Asn) c.2110G>A (p.Asp704Asn) c.1777G>A (p.Asp593Asn) | |
7 | g.117592187G>C | CA368979262 | CFTR | c.2020G>C (p.Asp674His) c.*1734G>C (n.*1734G>C) c.1837G>C (p.Asp613His) c.*320G>C (n.*320G>C) c.*1844G>C (n.*1844G>C) c.1594G>C (p.Asp532His) c.1402-10639G>C (n.1402-10639G>C) c.1930G>C (p.Asp644His) c.2110G>C (p.Asp704His) c.1777G>C (p.Asp593His) | |
7 | g.117592187G= | CA1737394490 | CFTR | c.2020G= (p.Asp674=) c.*1734G= (n.*1734G=) c.1837G= (p.Asp613=) c.*320G= (n.*320G=) c.*1844G= (n.*1844G=) c.1594G= (p.Asp532=) c.1402-10639G= (n.1402-10639G=) c.1930G= (p.Asp644=) c.2110G= (p.Asp704=) c.1777G= (p.Asp593=) | |
7 | g.117592187G>T | CA368979266 | CFTR | c.2020G>T (p.Asp674Tyr) c.*1734G>T (n.*1734G>T) c.1837G>T (p.Asp613Tyr) c.*320G>T (n.*320G>T) c.*1844G>T (n.*1844G>T) c.1594G>T (p.Asp532Tyr) c.1402-10639G>T (n.1402-10639G>T) c.1930G>T (p.Asp644Tyr) c.2110G>T (p.Asp704Tyr) c.1777G>T (p.Asp593Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592188A= | CA1737394494 | CFTR | c.2021A= (p.Asp674=) c.*1735A= (n.*1735A=) c.1838A= (p.Asp613=) c.*321A= (n.*321A=) c.*1845A= (n.*1845A=) c.1595A= (p.Asp532=) c.1402-10638A= (n.1402-10638A=) c.1931A= (p.Asp644=) c.2111A= (p.Asp704=) c.1778A= (p.Asp593=) | |
7 | g.117592188A>C | CA368979268 | CFTR | c.2021A>C (p.Asp674Ala) c.*1735A>C (n.*1735A>C) c.1838A>C (p.Asp613Ala) c.*321A>C (n.*321A>C) c.*1845A>C (n.*1845A>C) c.1595A>C (p.Asp532Ala) c.1402-10638A>C (n.1402-10638A>C) c.1931A>C (p.Asp644Ala) c.2111A>C (p.Asp704Ala) c.1778A>C (p.Asp593Ala) | |
7 | g.117592188A>G | CA4451127 | CFTR | c.2021A>G (p.Asp674Gly) c.*1735A>G (n.*1735A>G) c.1838A>G (p.Asp613Gly) c.*321A>G (n.*321A>G) c.*1845A>G (n.*1845A>G) c.1595A>G (p.Asp532Gly) c.1402-10638A>G (n.1402-10638A>G) c.1931A>G (p.Asp644Gly) c.2111A>G (p.Asp704Gly) c.1778A>G (p.Asp593Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592188A>T | CA4451128 | CFTR | c.2021A>T (p.Asp674Val) c.*1735A>T (n.*1735A>T) c.1838A>T (p.Asp613Val) c.*321A>T (n.*321A>T) c.*1845A>T (n.*1845A>T) c.1595A>T (p.Asp532Val) c.1402-10638A>T (n.1402-10638A>T) c.1931A>T (p.Asp644Val) c.2111A>T (p.Asp704Val) c.1778A>T (p.Asp593Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592189T>A | CA368979282 | CFTR | c.2022T>A (p.Asp674Glu) c.*1736T>A (n.*1736T>A) c.1839T>A (p.Asp613Glu) c.*322T>A (n.*322T>A) c.*1846T>A (n.*1846T>A) c.1596T>A (p.Asp532Glu) c.1402-10637T>A (n.1402-10637T>A) c.1932T>A (p.Asp644Glu) c.2112T>A (p.Asp704Glu) c.1779T>A (p.Asp593Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592189T>C | CA457449002 | CFTR | c.2022T>C (p.Asp674=) c.*1736T>C (n.*1736T>C) c.1839T>C (p.Asp613=) c.*322T>C (n.*322T>C) c.*1846T>C (n.*1846T>C) c.1596T>C (p.Asp532=) c.1402-10637T>C (n.1402-10637T>C) c.1932T>C (p.Asp644=) c.2112T>C (p.Asp704=) c.1779T>C (p.Asp593=) | ClinVar dbSNP |
7 | g.117592189T>G | CA368979283 | CFTR | c.2022T>G (p.Asp674Glu) c.*1736T>G (n.*1736T>G) c.1839T>G (p.Asp613Glu) c.*322T>G (n.*322T>G) c.*1846T>G (n.*1846T>G) c.1596T>G (p.Asp532Glu) c.1402-10637T>G (n.1402-10637T>G) c.1932T>G (p.Asp644Glu) c.2112T>G (p.Asp704Glu) c.1779T>G (p.Asp593Glu) | |
7 | g.117592189T= | CA1737394499 | CFTR | c.2022T= (p.Asp674=) c.*1736T= (n.*1736T=) c.1839T= (p.Asp613=) c.*322T= (n.*322T=) c.*1846T= (n.*1846T=) c.1596T= (p.Asp532=) c.1402-10637T= (n.1402-10637T=) c.1932T= (p.Asp644=) c.2112T= (p.Asp704=) c.1779T= (p.Asp593=) | |
7 | g.117592190G>A | CA368979285 | CFTR | c.2023G>A (p.Ala675Thr) c.*1737G>A (n.*1737G>A) c.1840G>A (p.Ala614Thr) c.*323G>A (n.*323G>A) c.*1847G>A (n.*1847G>A) c.1597G>A (p.Ala533Thr) c.1402-10636G>A (n.1402-10636G>A) c.1933G>A (p.Ala645Thr) c.2113G>A (p.Ala705Thr) c.1780G>A (p.Ala594Thr) | |
7 | g.117592190G>C | CA368979287 | CFTR | c.2023G>C (p.Ala675Pro) c.*1737G>C (n.*1737G>C) c.1840G>C (p.Ala614Pro) c.*323G>C (n.*323G>C) c.*1847G>C (n.*1847G>C) c.1597G>C (p.Ala533Pro) c.1402-10636G>C (n.1402-10636G>C) c.1933G>C (p.Ala645Pro) c.2113G>C (p.Ala705Pro) c.1780G>C (p.Ala594Pro) | |
7 | g.117592190G>T | CA368979289 | CFTR | c.2023G>T (p.Ala675Ser) c.*1737G>T (n.*1737G>T) c.1840G>T (p.Ala614Ser) c.*323G>T (n.*323G>T) c.*1847G>T (n.*1847G>T) c.1597G>T (p.Ala533Ser) c.1402-10636G>T (n.1402-10636G>T) c.1933G>T (p.Ala645Ser) c.2113G>T (p.Ala705Ser) c.1780G>T (p.Ala594Ser) | |
7 | g.117592191C>A | CA368979292 | CFTR | c.2024C>A (p.Ala675Asp) c.*1738C>A (n.*1738C>A) c.1841C>A (p.Ala614Asp) c.*324C>A (n.*324C>A) c.*1848C>A (n.*1848C>A) c.1598C>A (p.Ala533Asp) c.1402-10635C>A (n.1402-10635C>A) c.1934C>A (p.Ala645Asp) c.2114C>A (p.Ala705Asp) c.1781C>A (p.Ala594Asp) | |
7 | g.117592191C= | CA1737394506 | CFTR | c.2024C= (p.Ala675=) c.*1738C= (n.*1738C=) c.1841C= (p.Ala614=) c.*324C= (n.*324C=) c.*1848C= (n.*1848C=) c.1598C= (p.Ala533=) c.1402-10635C= (n.1402-10635C=) c.1934C= (p.Ala645=) c.2114C= (p.Ala705=) c.1781C= (p.Ala594=) | |
7 | g.117592191C>G | CA368979293 | CFTR | c.2024C>G (p.Ala675Gly) c.*1738C>G (n.*1738C>G) c.1841C>G (p.Ala614Gly) c.*324C>G (n.*324C>G) c.*1848C>G (n.*1848C>G) c.1598C>G (p.Ala533Gly) c.1402-10635C>G (n.1402-10635C>G) c.1934C>G (p.Ala645Gly) c.2114C>G (p.Ala705Gly) c.1781C>G (p.Ala594Gly) | |
7 | g.117592191C>T | CA368979291 | CFTR | c.2024C>T (p.Ala675Val) c.*1738C>T (n.*1738C>T) c.1841C>T (p.Ala614Val) c.*324C>T (n.*324C>T) c.*1848C>T (n.*1848C>T) c.1598C>T (p.Ala533Val) c.1402-10635C>T (n.1402-10635C>T) c.1934C>T (p.Ala645Val) c.2114C>T (p.Ala705Val) c.1781C>T (p.Ala594Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.117592192T>A | CA457449003 | CFTR | c.2025T>A (p.Ala675=) c.*1739T>A (n.*1739T>A) c.1842T>A (p.Ala614=) c.*325T>A (n.*325T>A) c.*1849T>A (n.*1849T>A) c.1599T>A (p.Ala533=) c.1402-10634T>A (n.1402-10634T>A) c.1935T>A (p.Ala645=) c.2115T>A (p.Ala705=) c.1782T>A (p.Ala594=) | |
7 | g.117592192T>C | CA457449004 | CFTR | c.2025T>C (p.Ala675=) c.*1739T>C (n.*1739T>C) c.1842T>C (p.Ala614=) c.*325T>C (n.*325T>C) c.*1849T>C (n.*1849T>C) c.1599T>C (p.Ala533=) c.1402-10634T>C (n.1402-10634T>C) c.1935T>C (p.Ala645=) c.2115T>C (p.Ala705=) c.1782T>C (p.Ala594=) | |
7 | g.117592192T>G | CA457449005 | CFTR | c.2025T>G (p.Ala675=) c.*1739T>G (n.*1739T>G) c.1842T>G (p.Ala614=) c.*325T>G (n.*325T>G) c.*1849T>G (n.*1849T>G) c.1599T>G (p.Ala533=) c.1402-10634T>G (n.1402-10634T>G) c.1935T>G (p.Ala645=) c.2115T>G (p.Ala705=) c.1782T>G (p.Ala594=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592192T= | CA1737394508 | CFTR | c.2025T= (p.Ala675=) c.*1739T= (n.*1739T=) c.1842T= (p.Ala614=) c.*325T= (n.*325T=) c.*1849T= (n.*1849T=) c.1599T= (p.Ala533=) c.1402-10634T= (n.1402-10634T=) c.1935T= (p.Ala645=) c.2115T= (p.Ala705=) c.1782T= (p.Ala594=) | |
7 | g.117592193C>A | CA368979295 | CFTR | c.2026C>A (p.Pro676Thr) c.*1740C>A (n.*1740C>A) c.1843C>A (p.Pro615Thr) c.*326C>A (n.*326C>A) c.*1850C>A (n.*1850C>A) c.1600C>A (p.Pro534Thr) c.1402-10633C>A (n.1402-10633C>A) c.1936C>A (p.Pro646Thr) c.2116C>A (p.Pro706Thr) c.1783C>A (p.Pro595Thr) | gnomAD v4 |
7 | g.117592193C= | CA1737394515 | CFTR | c.2026C= (p.Pro676=) c.*1740C= (n.*1740C=) c.1843C= (p.Pro615=) c.*326C= (n.*326C=) c.*1850C= (n.*1850C=) c.1600C= (p.Pro534=) c.1402-10633C= (n.1402-10633C=) c.1936C= (p.Pro646=) c.2116C= (p.Pro706=) c.1783C= (p.Pro595=) | |
7 | g.117592193C>G | CA4451129 | CFTR | c.2026C>G (p.Pro676Ala) c.*1740C>G (n.*1740C>G) c.1843C>G (p.Pro615Ala) c.*326C>G (n.*326C>G) c.*1850C>G (n.*1850C>G) c.1600C>G (p.Pro534Ala) c.1402-10633C>G (n.1402-10633C>G) c.1936C>G (p.Pro646Ala) c.2116C>G (p.Pro706Ala) c.1783C>G (p.Pro595Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592193C>T | CA4451130 | CFTR | c.2026C>T (p.Pro676Ser) c.*1740C>T (n.*1740C>T) c.1843C>T (p.Pro615Ser) c.*326C>T (n.*326C>T) c.*1850C>T (n.*1850C>T) c.1600C>T (p.Pro534Ser) c.1402-10633C>T (n.1402-10633C>T) c.1936C>T (p.Pro646Ser) c.2116C>T (p.Pro706Ser) c.1783C>T (p.Pro595Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592194C>A | CA368979298 | CFTR | c.2027C>A (p.Pro676His) c.*1741C>A (n.*1741C>A) c.1844C>A (p.Pro615His) c.*327C>A (n.*327C>A) c.*1851C>A (n.*1851C>A) c.1601C>A (p.Pro534His) c.1402-10632C>A (n.1402-10632C>A) c.1937C>A (p.Pro646His) c.2117C>A (p.Pro706His) c.1784C>A (p.Pro595His) | |
7 | g.117592194C>G | CA368979300 | CFTR | c.2027C>G (p.Pro676Arg) c.*1741C>G (n.*1741C>G) c.1844C>G (p.Pro615Arg) c.*327C>G (n.*327C>G) c.*1851C>G (n.*1851C>G) c.1601C>G (p.Pro534Arg) c.1402-10632C>G (n.1402-10632C>G) c.1937C>G (p.Pro646Arg) c.2117C>G (p.Pro706Arg) c.1784C>G (p.Pro595Arg) | |
7 | g.117592194C>T | CA368979302 | CFTR | c.2027C>T (p.Pro676Leu) c.*1741C>T (n.*1741C>T) c.1844C>T (p.Pro615Leu) c.*327C>T (n.*327C>T) c.*1851C>T (n.*1851C>T) c.1601C>T (p.Pro534Leu) c.1402-10632C>T (n.1402-10632C>T) c.1937C>T (p.Pro646Leu) c.2117C>T (p.Pro706Leu) c.1784C>T (p.Pro595Leu) | |
7 | g.117592195T>A | CA457449006 | CFTR | c.2028T>A (p.Pro676=) c.*1742T>A (n.*1742T>A) c.1845T>A (p.Pro615=) c.*328T>A (n.*328T>A) c.*1852T>A (n.*1852T>A) c.1602T>A (p.Pro534=) c.1402-10631T>A (n.1402-10631T>A) c.1938T>A (p.Pro646=) c.2118T>A (p.Pro706=) c.1785T>A (p.Pro595=) | |
7 | g.117592195T>C | CA4451131 | CFTR | c.2028T>C (p.Pro676=) c.*1742T>C (n.*1742T>C) c.1845T>C (p.Pro615=) c.*328T>C (n.*328T>C) c.*1852T>C (n.*1852T>C) c.1602T>C (p.Pro534=) c.1402-10631T>C (n.1402-10631T>C) c.1938T>C (p.Pro646=) c.2118T>C (p.Pro706=) c.1785T>C (p.Pro595=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592195T>G | CA457449007 | CFTR | c.2028T>G (p.Pro676=) c.*1742T>G (n.*1742T>G) c.1845T>G (p.Pro615=) c.*328T>G (n.*328T>G) c.*1852T>G (n.*1852T>G) c.1602T>G (p.Pro534=) c.1402-10631T>G (n.1402-10631T>G) c.1938T>G (p.Pro646=) c.2118T>G (p.Pro706=) c.1785T>G (p.Pro595=) | |
7 | g.117592195T= | CA1737394523 | CFTR | c.2028T= (p.Pro676=) c.*1742T= (n.*1742T=) c.1845T= (p.Pro615=) c.*328T= (n.*328T=) c.*1852T= (n.*1852T=) c.1602T= (p.Pro534=) c.1402-10631T= (n.1402-10631T=) c.1938T= (p.Pro646=) c.2118T= (p.Pro706=) c.1785T= (p.Pro595=) | |
7 | g.117592196G>A | CA368979307 | CFTR | c.2029G>A (p.Val677Ile) c.*1743G>A (n.*1743G>A) c.1846G>A (p.Val616Ile) c.*329G>A (n.*329G>A) c.*1853G>A (n.*1853G>A) c.1603G>A (p.Val535Ile) c.1402-10630G>A (n.1402-10630G>A) c.1939G>A (p.Val647Ile) c.2119G>A (p.Val707Ile) c.1786G>A (p.Val596Ile) | |
7 | g.117592196G>C | CA368979308 | CFTR | c.2029G>C (p.Val677Leu) c.*1743G>C (n.*1743G>C) c.1846G>C (p.Val616Leu) c.*329G>C (n.*329G>C) c.*1853G>C (n.*1853G>C) c.1603G>C (p.Val535Leu) c.1402-10630G>C (n.1402-10630G>C) c.1939G>C (p.Val647Leu) c.2119G>C (p.Val707Leu) c.1786G>C (p.Val596Leu) | |
7 | g.117592196G>T | CA368979310 | CFTR | c.2029G>T (p.Val677Phe) c.*1743G>T (n.*1743G>T) c.1846G>T (p.Val616Phe) c.*329G>T (n.*329G>T) c.*1853G>T (n.*1853G>T) c.1603G>T (p.Val535Phe) c.1402-10630G>T (n.1402-10630G>T) c.1939G>T (p.Val647Phe) c.2119G>T (p.Val707Phe) c.1786G>T (p.Val596Phe) | |
7 | g.117592197T>A | CA368979313 | CFTR | c.2030T>A (p.Val677Asp) c.*1744T>A (n.*1744T>A) c.1847T>A (p.Val616Asp) c.*330T>A (n.*330T>A) c.*1854T>A (n.*1854T>A) c.1604T>A (p.Val535Asp) c.1402-10629T>A (n.1402-10629T>A) c.1940T>A (p.Val647Asp) c.2120T>A (p.Val707Asp) c.1787T>A (p.Val596Asp) | gnomAD v4 |
7 | g.117592197T>C | CA368979315 | CFTR | c.2030T>C (p.Val677Ala) c.*1744T>C (n.*1744T>C) c.1847T>C (p.Val616Ala) c.*330T>C (n.*330T>C) c.*1854T>C (n.*1854T>C) c.1604T>C (p.Val535Ala) c.1402-10629T>C (n.1402-10629T>C) c.1940T>C (p.Val647Ala) c.2120T>C (p.Val707Ala) c.1787T>C (p.Val596Ala) | |
7 | g.117592197T>G | CA368979317 | CFTR | c.2030T>G (p.Val677Gly) c.*1744T>G (n.*1744T>G) c.1847T>G (p.Val616Gly) c.*330T>G (n.*330T>G) c.*1854T>G (n.*1854T>G) c.1604T>G (p.Val535Gly) c.1402-10629T>G (n.1402-10629T>G) c.1940T>G (p.Val647Gly) c.2120T>G (p.Val707Gly) c.1787T>G (p.Val596Gly) | |
7 | g.117592198C>A | CA457449008 | CFTR | c.2031C>A (p.Val677=) c.*1745C>A (n.*1745C>A) c.1848C>A (p.Val616=) c.*331C>A (n.*331C>A) c.*1855C>A (n.*1855C>A) c.1605C>A (p.Val535=) c.1402-10628C>A (n.1402-10628C>A) c.1941C>A (p.Val647=) c.2121C>A (p.Val707=) c.1788C>A (p.Val596=) | |
7 | g.117592198C>G | CA457449010 | CFTR | c.2031C>G (p.Val677=) c.*1745C>G (n.*1745C>G) c.1848C>G (p.Val616=) c.*331C>G (n.*331C>G) c.*1855C>G (n.*1855C>G) c.1605C>G (p.Val535=) c.1402-10628C>G (n.1402-10628C>G) c.1941C>G (p.Val647=) c.2121C>G (p.Val707=) c.1788C>G (p.Val596=) | |
7 | g.117592198C>T | CA457449009 | CFTR | c.2031C>T (p.Val677=) c.*1745C>T (n.*1745C>T) c.1848C>T (p.Val616=) c.*331C>T (n.*331C>T) c.*1855C>T (n.*1855C>T) c.1605C>T (p.Val535=) c.1402-10628C>T (n.1402-10628C>T) c.1941C>T (p.Val647=) c.2121C>T (p.Val707=) c.1788C>T (p.Val596=) | |
7 | g.117592199T>A | CA368979319 | CFTR | c.2032T>A (p.Ser678Thr) c.*1746T>A (n.*1746T>A) c.1849T>A (p.Ser617Thr) c.*332T>A (n.*332T>A) c.*1856T>A (n.*1856T>A) c.1606T>A (p.Ser536Thr) c.1402-10627T>A (n.1402-10627T>A) c.1942T>A (p.Ser648Thr) c.2122T>A (p.Ser708Thr) c.1789T>A (p.Ser597Thr) | |
7 | g.117592199T>C | CA368979323 | CFTR | c.2032T>C (p.Ser678Pro) c.*1746T>C (n.*1746T>C) c.1849T>C (p.Ser617Pro) c.*332T>C (n.*332T>C) c.*1856T>C (n.*1856T>C) c.1606T>C (p.Ser536Pro) c.1402-10627T>C (n.1402-10627T>C) c.1942T>C (p.Ser648Pro) c.2122T>C (p.Ser708Pro) c.1789T>C (p.Ser597Pro) | gnomAD v4 |
7 | g.117592199T>G | CA368979321 | CFTR | c.2032T>G (p.Ser678Ala) c.*1746T>G (n.*1746T>G) c.1849T>G (p.Ser617Ala) c.*332T>G (n.*332T>G) c.*1856T>G (n.*1856T>G) c.1606T>G (p.Ser536Ala) c.1402-10627T>G (n.1402-10627T>G) c.1942T>G (p.Ser648Ala) c.2122T>G (p.Ser708Ala) c.1789T>G (p.Ser597Ala) | |
7 | g.117592200C>A | CA368979326 | CFTR | c.2033C>A (p.Ser678Tyr) c.*1747C>A (n.*1747C>A) c.1850C>A (p.Ser617Tyr) c.*333C>A (n.*333C>A) c.*1857C>A (n.*1857C>A) c.1607C>A (p.Ser536Tyr) c.1402-10626C>A (n.1402-10626C>A) c.1943C>A (p.Ser648Tyr) c.2123C>A (p.Ser708Tyr) c.1790C>A (p.Ser597Tyr) | |
7 | g.117592200C= | CA1737394526 | CFTR | c.2033C= (p.Ser678=) c.*1747C= (n.*1747C=) c.1850C= (p.Ser617=) c.*333C= (n.*333C=) c.*1857C= (n.*1857C=) c.1607C= (p.Ser536=) c.1402-10626C= (n.1402-10626C=) c.1943C= (p.Ser648=) c.2123C= (p.Ser708=) c.1790C= (p.Ser597=) | |
7 | g.117592200C>G | CA368979327 | CFTR | c.2033C>G (p.Ser678Cys) c.*1747C>G (n.*1747C>G) c.1850C>G (p.Ser617Cys) c.*333C>G (n.*333C>G) c.*1857C>G (n.*1857C>G) c.1607C>G (p.Ser536Cys) c.1402-10626C>G (n.1402-10626C>G) c.1943C>G (p.Ser648Cys) c.2123C>G (p.Ser708Cys) c.1790C>G (p.Ser597Cys) | |
7 | g.117592200C>T | CA4451132 | CFTR | c.2033C>T (p.Ser678Phe) c.*1747C>T (n.*1747C>T) c.1850C>T (p.Ser617Phe) c.*333C>T (n.*333C>T) c.*1857C>T (n.*1857C>T) c.1607C>T (p.Ser536Phe) c.1402-10626C>T (n.1402-10626C>T) c.1943C>T (p.Ser648Phe) c.2123C>T (p.Ser708Phe) c.1790C>T (p.Ser597Phe) | ClinVar dbSNP ExAC gnomAD v4 |
7 | g.117592201C>A | CA457449011 | CFTR | c.2034C>A (p.Ser678=) c.*1748C>A (n.*1748C>A) c.1851C>A (p.Ser617=) c.*334C>A (n.*334C>A) c.*1858C>A (n.*1858C>A) c.1608C>A (p.Ser536=) c.1402-10625C>A (n.1402-10625C>A) c.1944C>A (p.Ser648=) c.2124C>A (p.Ser708=) c.1791C>A (p.Ser597=) | |
7 | g.117592201C>G | CA457449012 | CFTR | c.2034C>G (p.Ser678=) c.*1748C>G (n.*1748C>G) c.1851C>G (p.Ser617=) c.*334C>G (n.*334C>G) c.*1858C>G (n.*1858C>G) c.1608C>G (p.Ser536=) c.1402-10625C>G (n.1402-10625C>G) c.1944C>G (p.Ser648=) c.2124C>G (p.Ser708=) c.1791C>G (p.Ser597=) | |
7 | g.117592201C>T | CA457449013 | CFTR | c.2034C>T (p.Ser678=) c.*1748C>T (n.*1748C>T) c.1851C>T (p.Ser617=) c.*334C>T (n.*334C>T) c.*1858C>T (n.*1858C>T) c.1608C>T (p.Ser536=) c.1402-10625C>T (n.1402-10625C>T) c.1944C>T (p.Ser648=) c.2124C>T (p.Ser708=) c.1791C>T (p.Ser597=) | |
7 | g.117592202T>A | CA368979333 | CFTR | c.2035T>A (p.Trp679Arg) c.*1749T>A (n.*1749T>A) c.1852T>A (p.Trp618Arg) c.*335T>A (n.*335T>A) c.*1859T>A (n.*1859T>A) c.1609T>A (p.Trp537Arg) c.1402-10624T>A (n.1402-10624T>A) c.1945T>A (p.Trp649Arg) c.2125T>A (p.Trp709Arg) c.1792T>A (p.Trp598Arg) | |
7 | g.117592202T>C | CA368979334 | CFTR | c.2035T>C (p.Trp679Arg) c.*1749T>C (n.*1749T>C) c.1852T>C (p.Trp618Arg) c.*335T>C (n.*335T>C) c.*1859T>C (n.*1859T>C) c.1609T>C (p.Trp537Arg) c.1402-10624T>C (n.1402-10624T>C) c.1945T>C (p.Trp649Arg) c.2125T>C (p.Trp709Arg) c.1792T>C (p.Trp598Arg) | ClinVar |
7 | g.117592202T>G | CA368979336 | CFTR | c.2035T>G (p.Trp679Gly) c.*1749T>G (n.*1749T>G) c.1852T>G (p.Trp618Gly) c.*335T>G (n.*335T>G) c.*1859T>G (n.*1859T>G) c.1609T>G (p.Trp537Gly) c.1402-10624T>G (n.1402-10624T>G) c.1945T>G (p.Trp649Gly) c.2125T>G (p.Trp709Gly) c.1792T>G (p.Trp598Gly) | |
7 | g.117592203G>A | CA326734 | CFTR | c.2036G>A (p.Trp679Ter) c.*1750G>A (n.*1750G>A) c.1853G>A (p.Trp618Ter) c.*336G>A (n.*336G>A) c.*1860G>A (n.*1860G>A) c.1610G>A (p.Trp537Ter) c.1402-10623G>A (n.1402-10623G>A) c.1946G>A (p.Trp649Ter) c.2126G>A (p.Trp709Ter) c.1793G>A (p.Trp598Ter) | ClinVar dbSNP |
7 | g.117592203G>C | CA368979338 | CFTR | c.2036G>C (p.Trp679Ser) c.*1750G>C (n.*1750G>C) c.1853G>C (p.Trp618Ser) c.*336G>C (n.*336G>C) c.*1860G>C (n.*1860G>C) c.1610G>C (p.Trp537Ser) c.1402-10623G>C (n.1402-10623G>C) c.1946G>C (p.Trp649Ser) c.2126G>C (p.Trp709Ser) c.1793G>C (p.Trp598Ser) | |
7 | g.117592203G= | CA1737394531 | CFTR | c.2036G= (p.Trp679=) c.*1750G= (n.*1750G=) c.1853G= (p.Trp618=) c.*336G= (n.*336G=) c.*1860G= (n.*1860G=) c.1610G= (p.Trp537=) c.1402-10623G= (n.1402-10623G=) c.1946G= (p.Trp649=) c.2126G= (p.Trp709=) c.1793G= (p.Trp598=) | |
7 | g.117592203G>T | CA368979340 | CFTR | c.2036G>T (p.Trp679Leu) c.*1750G>T (n.*1750G>T) c.1853G>T (p.Trp618Leu) c.*336G>T (n.*336G>T) c.*1860G>T (n.*1860G>T) c.1610G>T (p.Trp537Leu) c.1402-10623G>T (n.1402-10623G>T) c.1946G>T (p.Trp649Leu) c.2126G>T (p.Trp709Leu) c.1793G>T (p.Trp598Leu) | |
7 | g.117592204G>A | CA368979342 | CFTR | c.2037G>A (p.Trp679Ter) c.*1751G>A (n.*1751G>A) c.1854G>A (p.Trp618Ter) c.*337G>A (n.*337G>A) c.*1861G>A (n.*1861G>A) c.1611G>A (p.Trp537Ter) c.1402-10622G>A (n.1402-10622G>A) c.1947G>A (p.Trp649Ter) c.2127G>A (p.Trp709Ter) c.1794G>A (p.Trp598Ter) | gnomAD v4 |
7 | g.117592204G>C | CA368979344 | CFTR | c.2037G>C (p.Trp679Cys) c.*1751G>C (n.*1751G>C) c.1854G>C (p.Trp618Cys) c.*337G>C (n.*337G>C) c.*1861G>C (n.*1861G>C) c.1611G>C (p.Trp537Cys) c.1402-10622G>C (n.1402-10622G>C) c.1947G>C (p.Trp649Cys) c.2127G>C (p.Trp709Cys) c.1794G>C (p.Trp598Cys) | |
7 | g.117592204G>T | CA368979347 | CFTR | c.2037G>T (p.Trp679Cys) c.*1751G>T (n.*1751G>T) c.1854G>T (p.Trp618Cys) c.*337G>T (n.*337G>T) c.*1861G>T (n.*1861G>T) c.1611G>T (p.Trp537Cys) c.1402-10622G>T (n.1402-10622G>T) c.1947G>T (p.Trp649Cys) c.2127G>T (p.Trp709Cys) c.1794G>T (p.Trp598Cys) | |
7 | g.117592205A>C | CA368979350 | CFTR | c.2038A>C (p.Thr680Pro) c.*1752A>C (n.*1752A>C) c.1855A>C (p.Thr619Pro) c.*338A>C (n.*338A>C) c.*1862A>C (n.*1862A>C) c.1612A>C (p.Thr538Pro) c.1402-10621A>C (n.1402-10621A>C) c.1948A>C (p.Thr650Pro) c.2128A>C (p.Thr710Pro) c.1795A>C (p.Thr599Pro) | |
7 | g.117592205A>G | CA368979352 | CFTR | c.2038A>G (p.Thr680Ala) c.*1752A>G (n.*1752A>G) c.1855A>G (p.Thr619Ala) c.*338A>G (n.*338A>G) c.*1862A>G (n.*1862A>G) c.1612A>G (p.Thr538Ala) c.1402-10621A>G (n.1402-10621A>G) c.1948A>G (p.Thr650Ala) c.2128A>G (p.Thr710Ala) c.1795A>G (p.Thr599Ala) | |
7 | g.117592205A>T | CA368979348 | CFTR | c.2038A>T (p.Thr680Ser) c.*1752A>T (n.*1752A>T) c.1855A>T (p.Thr619Ser) c.*338A>T (n.*338A>T) c.*1862A>T (n.*1862A>T) c.1612A>T (p.Thr538Ser) c.1402-10621A>T (n.1402-10621A>T) c.1948A>T (p.Thr650Ser) c.2128A>T (p.Thr710Ser) c.1795A>T (p.Thr599Ser) | |
7 | g.117592206C>A | CA368979356 | CFTR | c.2039C>A (p.Thr680Lys) c.*1753C>A (n.*1753C>A) c.1856C>A (p.Thr619Lys) c.*339C>A (n.*339C>A) c.*1863C>A (n.*1863C>A) c.1613C>A (p.Thr538Lys) c.1402-10620C>A (n.1402-10620C>A) c.1949C>A (p.Thr650Lys) c.2129C>A (p.Thr710Lys) c.1796C>A (p.Thr599Lys) | gnomAD v3 gnomAD v4 |
7 | g.117592206C>G | CA368979357 | CFTR | c.2039C>G (p.Thr680Arg) c.*1753C>G (n.*1753C>G) c.1856C>G (p.Thr619Arg) c.*339C>G (n.*339C>G) c.*1863C>G (n.*1863C>G) c.1613C>G (p.Thr538Arg) c.1402-10620C>G (n.1402-10620C>G) c.1949C>G (p.Thr650Arg) c.2129C>G (p.Thr710Arg) c.1796C>G (p.Thr599Arg) | gnomAD v4 |
7 | g.117592206C>T | CA368979360 | CFTR | c.2039C>T (p.Thr680Ile) c.*1753C>T (n.*1753C>T) c.1856C>T (p.Thr619Ile) c.*339C>T (n.*339C>T) c.*1863C>T (n.*1863C>T) c.1613C>T (p.Thr538Ile) c.1402-10620C>T (n.1402-10620C>T) c.1949C>T (p.Thr650Ile) c.2129C>T (p.Thr710Ile) c.1796C>T (p.Thr599Ile) | |
7 | g.117592207A>C | CA457449014 | CFTR | c.2040A>C (p.Thr680=) c.*1754A>C (n.*1754A>C) c.1857A>C (p.Thr619=) c.*340A>C (n.*340A>C) c.*1864A>C (n.*1864A>C) c.1614A>C (p.Thr538=) c.1402-10619A>C (n.1402-10619A>C) c.1950A>C (p.Thr650=) c.2130A>C (p.Thr710=) c.1797A>C (p.Thr599=) | gnomAD v4 |
7 | g.117592207A>G | CA457449015 | CFTR | c.2040A>G (p.Thr680=) c.*1754A>G (n.*1754A>G) c.1857A>G (p.Thr619=) c.*340A>G (n.*340A>G) c.*1864A>G (n.*1864A>G) c.1614A>G (p.Thr538=) c.1402-10619A>G (n.1402-10619A>G) c.1950A>G (p.Thr650=) c.2130A>G (p.Thr710=) c.1797A>G (p.Thr599=) | |
7 | g.117592207A>T | CA457449016 | CFTR | c.2040A>T (p.Thr680=) c.*1754A>T (n.*1754A>T) c.1857A>T (p.Thr619=) c.*340A>T (n.*340A>T) c.*1864A>T (n.*1864A>T) c.1614A>T (p.Thr538=) c.1402-10619A>T (n.1402-10619A>T) c.1950A>T (p.Thr650=) c.2130A>T (p.Thr710=) c.1797A>T (p.Thr599=) | |
7 | g.117592208_117592209del | CA913111879 | CFTR | c.2041_2042del (p.Glu681AsnfsTer7) c.*1755_*1756del (n.*1755_*1756del) c.1858_1859del (p.Glu620AsnfsTer7) c.*341_*342del (n.*341_*342del) c.*1865_*1866del (n.*1865_*1866del) c.1615_1616del (p.Glu539AsnfsTer7) c.1402-10618_1402-10617del (n.1402-10618_1402-10617del) c.1951_1952del (p.Glu651AsnfsTer7) c.2131_2132del (p.Glu711AsnfsTer7) c.1798_1799del (p.Glu600AsnfsTer7) | |
7 | g.117592208G>A | CA368979363 | CFTR | c.2041G>A (p.Glu681Lys) c.*1755G>A (n.*1755G>A) c.1858G>A (p.Glu620Lys) c.*341G>A (n.*341G>A) c.*1865G>A (n.*1865G>A) c.1615G>A (p.Glu539Lys) c.1402-10618G>A (n.1402-10618G>A) c.1951G>A (p.Glu651Lys) c.2131G>A (p.Glu711Lys) c.1798G>A (p.Glu600Lys) | gnomAD v3 gnomAD v4 |
7 | g.117592208G>C | CA368979366 | CFTR | c.2041G>C (p.Glu681Gln) c.*1755G>C (n.*1755G>C) c.1858G>C (p.Glu620Gln) c.*341G>C (n.*341G>C) c.*1865G>C (n.*1865G>C) c.1615G>C (p.Glu539Gln) c.1402-10618G>C (n.1402-10618G>C) c.1951G>C (p.Glu651Gln) c.2131G>C (p.Glu711Gln) c.1798G>C (p.Glu600Gln) | COSMIC |
7 | g.117592208G= | CA1737394536 | CFTR | c.2041G= (p.Glu681=) c.*1755G= (n.*1755G=) c.1858G= (p.Glu620=) c.*341G= (n.*341G=) c.*1865G= (n.*1865G=) c.1615G= (p.Glu539=) c.1402-10618G= (n.1402-10618G=) c.1951G= (p.Glu651=) c.2131G= (p.Glu711=) c.1798G= (p.Glu600=) | |
7 | g.117592208G>T | CA368979368 | CFTR | c.2041G>T (p.Glu681Ter) c.*1755G>T (n.*1755G>T) c.1858G>T (p.Glu620Ter) c.*341G>T (n.*341G>T) c.*1865G>T (n.*1865G>T) c.1615G>T (p.Glu539Ter) c.1402-10618G>T (n.1402-10618G>T) c.1951G>T (p.Glu651Ter) c.2131G>T (p.Glu711Ter) c.1798G>T (p.Glu600Ter) | |
7 | g.117592208_117592209delinsGA | CA1737394535 | CFTR | c.2041_2042delinsGA (p.Glu681=) c.*1755_*1756delinsGA (n.*1755_*1756delinsGA) c.1858_1859delinsGA (p.Glu620=) c.*341_*342delinsGA (n.*341_*342delinsGA) c.*1865_*1866delinsGA (n.*1865_*1866delinsGA) c.1615_1616delinsGA (p.Glu539=) c.1402-10618_1402-10617delinsGA (n.1402-10618_1402-10617delinsGA) c.1951_1952delinsGA (p.Glu651=) c.2131_2132delinsGA (p.Glu711=) c.1798_1799delinsGA (p.Glu600=) | |
7 | g.117592209A= | CA1737394553 | CFTR | c.2042A= (p.Glu681=) c.*1756A= (n.*1756A=) c.1859A= (p.Glu620=) c.*342A= (n.*342A=) c.*1866A= (n.*1866A=) c.1616A= (p.Glu539=) c.1402-10617A= (n.1402-10617A=) c.1952A= (p.Glu651=) c.2132A= (p.Glu711=) c.1799A= (p.Glu600=) | |
7 | g.117592209A>C | CA368979373 | CFTR | c.2042A>C (p.Glu681Ala) c.*1756A>C (n.*1756A>C) c.1859A>C (p.Glu620Ala) c.*342A>C (n.*342A>C) c.*1866A>C (n.*1866A>C) c.1616A>C (p.Glu539Ala) c.1402-10617A>C (n.1402-10617A>C) c.1952A>C (p.Glu651Ala) c.2132A>C (p.Glu711Ala) c.1799A>C (p.Glu600Ala) | |
7 | g.117592209A>G | CA368979370 | CFTR | c.2042A>G (p.Glu681Gly) c.*1756A>G (n.*1756A>G) c.1859A>G (p.Glu620Gly) c.*342A>G (n.*342A>G) c.*1866A>G (n.*1866A>G) c.1616A>G (p.Glu539Gly) c.1402-10617A>G (n.1402-10617A>G) c.1952A>G (p.Glu651Gly) c.2132A>G (p.Glu711Gly) c.1799A>G (p.Glu600Gly) | |
7 | g.117592209A>T | CA4451133 | CFTR | c.2042A>T (p.Glu681Val) c.*1756A>T (n.*1756A>T) c.1859A>T (p.Glu620Val) c.*342A>T (n.*342A>T) c.*1866A>T (n.*1866A>T) c.1616A>T (p.Glu539Val) c.1402-10617A>T (n.1402-10617A>T) c.1952A>T (p.Glu651Val) c.2132A>T (p.Glu711Val) c.1799A>T (p.Glu600Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592211dup | CA915945425 | CFTR | c.2044dup (p.Thr682AsnfsTer7) c.*1758dup (n.*1758dup) c.1861dup (p.Thr621AsnfsTer7) c.*344dup (n.*344dup) c.*1868dup (n.*1868dup) c.1618dup (p.Thr540AsnfsTer7) c.1402-10615dup (n.1402-10615dup) c.1954dup (p.Thr652AsnfsTer7) c.2134dup (p.Thr712AsnfsTer7) c.1801dup (p.Thr601AsnfsTer7) | ClinVar dbSNP |
7 | g.117592211del | CA658822499 | CFTR | c.2044del (p.Thr682GlnfsTer?) c.*1758del (n.*1758del) c.1861del (p.Thr621GlnfsTer?) c.*344del (n.*344del) c.*1868del (n.*1868del) c.1618del (p.Thr540GlnfsTer?) c.1402-10615del (n.1402-10615del) c.1954del (p.Thr652GlnfsTer?) c.2134del (p.Thr712GlnfsTer?) c.1801del (p.Thr601GlnfsTer?) | ClinVar dbSNP |
7 | g.117592215_117592222dup | CA1106305610 | CFTR | c.2048_2055dup (p.Ser686LysfsTer?) c.*1762_*1769dup (n.*1762_*1769dup) c.1865_1872dup (p.Ser625LysfsTer?) c.*348_*355dup (n.*348_*355dup) c.*1872_*1879dup (n.*1872_*1879dup) c.1622_1629dup (p.Ser544LysfsTer?) c.1402-10611_1402-10604dup (n.1402-10611_1402-10604dup) c.1958_1965dup (p.Ser656LysfsTer?) c.2138_2145dup (p.Ser716LysfsTer?) c.1805_1812dup (p.Ser605LysfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592210A>C | CA368979375 | CFTR | c.2043A>C (p.Glu681Asp) c.*1757A>C (n.*1757A>C) c.1860A>C (p.Glu620Asp) c.*343A>C (n.*343A>C) c.*1867A>C (n.*1867A>C) c.1617A>C (p.Glu539Asp) c.1402-10616A>C (n.1402-10616A>C) c.1953A>C (p.Glu651Asp) c.2133A>C (p.Glu711Asp) c.1800A>C (p.Glu600Asp) | |
7 | g.117592210A>G | CA457449017 | CFTR | c.2043A>G (p.Glu681=) c.*1757A>G (n.*1757A>G) c.1860A>G (p.Glu620=) c.*343A>G (n.*343A>G) c.*1867A>G (n.*1867A>G) c.1617A>G (p.Glu539=) c.1402-10616A>G (n.1402-10616A>G) c.1953A>G (p.Glu651=) c.2133A>G (p.Glu711=) c.1800A>G (p.Glu600=) | |
7 | g.117592210A>T | CA368979377 | CFTR | c.2043A>T (p.Glu681Asp) c.*1757A>T (n.*1757A>T) c.1860A>T (p.Glu620Asp) c.*343A>T (n.*343A>T) c.*1867A>T (n.*1867A>T) c.1617A>T (p.Glu539Asp) c.1402-10616A>T (n.1402-10616A>T) c.1953A>T (p.Glu651Asp) c.2133A>T (p.Glu711Asp) c.1800A>T (p.Glu600Asp) | |
7 | g.117592211A= | CA1737394560 | CFTR | c.2044A= (p.Thr682=) c.*1758A= (n.*1758A=) c.1861A= (p.Thr621=) c.*344A= (n.*344A=) c.*1868A= (n.*1868A=) c.1618A= (p.Thr540=) c.1402-10615A= (n.1402-10615A=) c.1954A= (p.Thr652=) c.2134A= (p.Thr712=) c.1801A= (p.Thr601=) | |
7 | g.117592211A>C | CA368979380 | CFTR | c.2044A>C (p.Thr682Pro) c.*1758A>C (n.*1758A>C) c.1861A>C (p.Thr621Pro) c.*344A>C (n.*344A>C) c.*1868A>C (n.*1868A>C) c.1618A>C (p.Thr540Pro) c.1402-10615A>C (n.1402-10615A>C) c.1954A>C (p.Thr652Pro) c.2134A>C (p.Thr712Pro) c.1801A>C (p.Thr601Pro) | |
7 | g.117592211A>G | CA368979383 | CFTR | c.2044A>G (p.Thr682Ala) c.*1758A>G (n.*1758A>G) c.1861A>G (p.Thr621Ala) c.*344A>G (n.*344A>G) c.*1868A>G (n.*1868A>G) c.1618A>G (p.Thr540Ala) c.1402-10615A>G (n.1402-10615A>G) c.1954A>G (p.Thr652Ala) c.2134A>G (p.Thr712Ala) c.1801A>G (p.Thr601Ala) | |
7 | g.117592211A>T | CA368979386 | CFTR | c.2044A>T (p.Thr682Ser) c.*1758A>T (n.*1758A>T) c.1861A>T (p.Thr621Ser) c.*344A>T (n.*344A>T) c.*1868A>T (n.*1868A>T) c.1618A>T (p.Thr540Ser) c.1402-10615A>T (n.1402-10615A>T) c.1954A>T (p.Thr652Ser) c.2134A>T (p.Thr712Ser) c.1801A>T (p.Thr601Ser) | |
7 | g.117592211_117592212delinsAC | CA1737394561 | CFTR | c.2044_2045delinsAC (p.Thr682=) c.*1758_*1759delinsAC (n.*1758_*1759delinsAC) c.1861_1862delinsAC (p.Thr621=) c.*344_*345delinsAC (n.*344_*345delinsAC) c.*1868_*1869delinsAC (n.*1868_*1869delinsAC) c.1618_1619delinsAC (p.Thr540=) c.1402-10615_1402-10614delinsAC (n.1402-10615_1402-10614delinsAC) c.1954_1955delinsAC (p.Thr652=) c.2134_2135delinsAC (p.Thr712=) c.1801_1802delinsAC (p.Thr601=) | |
7 | g.117592212del | CA915945426 | CFTR | c.2045del (p.Thr682LysfsTer?) c.*1759del (n.*1759del) c.1862del (p.Thr621LysfsTer?) c.*345del (n.*345del) c.*1869del (n.*1869del) c.1619del (p.Thr540LysfsTer?) c.1402-10614del (n.1402-10614del) c.1955del (p.Thr652LysfsTer?) c.2135del (p.Thr712LysfsTer?) c.1802del (p.Thr601LysfsTer?) | ClinVar dbSNP |
7 | g.117592212C>A | CA368979389 | CFTR | c.2045C>A (p.Thr682Lys) c.*1759C>A (n.*1759C>A) c.1862C>A (p.Thr621Lys) c.*345C>A (n.*345C>A) c.*1869C>A (n.*1869C>A) c.1619C>A (p.Thr540Lys) c.1402-10614C>A (n.1402-10614C>A) c.1955C>A (p.Thr652Lys) c.2135C>A (p.Thr712Lys) c.1802C>A (p.Thr601Lys) | ClinVar gnomAD v3 gnomAD v4 |
7 | g.117592212C>G | CA368979394 | CFTR | c.2045C>G (p.Thr682Arg) c.*1759C>G (n.*1759C>G) c.1862C>G (p.Thr621Arg) c.*345C>G (n.*345C>G) c.*1869C>G (n.*1869C>G) c.1619C>G (p.Thr540Arg) c.1402-10614C>G (n.1402-10614C>G) c.1955C>G (p.Thr652Arg) c.2135C>G (p.Thr712Arg) c.1802C>G (p.Thr601Arg) | |
7 | g.117592212C>T | CA368979392 | CFTR | c.2045C>T (p.Thr682Ile) c.*1759C>T (n.*1759C>T) c.1862C>T (p.Thr621Ile) c.*345C>T (n.*345C>T) c.*1869C>T (n.*1869C>T) c.1619C>T (p.Thr540Ile) c.1402-10614C>T (n.1402-10614C>T) c.1955C>T (p.Thr652Ile) c.2135C>T (p.Thr712Ile) c.1802C>T (p.Thr601Ile) | |
7 | g.117592212dup | CA326736 | CFTR | c.2045dup (p.Gln685ThrfsTer4) c.*1759dup (n.*1759dup) c.1862dup (p.Gln624ThrfsTer4) c.*345dup (n.*345dup) c.*1869dup (n.*1869dup) c.1619dup (p.Gln543ThrfsTer4) c.1402-10614dup (n.1402-10614dup) c.1955dup (p.Gln655ThrfsTer4) c.2135dup (p.Gln715ThrfsTer4) c.1802dup (p.Gln604ThrfsTer4) | ClinVar dbSNP |
7 | g.117592212_117592214delinsCAA | CA1737394575 | CFTR | c.2045_2047delinsCAA (p.Thr682=) c.*1759_*1761delinsCAA (n.*1759_*1761delinsCAA) c.1862_1864delinsCAA (p.Thr621=) c.*345_*347delinsCAA (n.*345_*347delinsCAA) c.*1869_*1871delinsCAA (n.*1869_*1871delinsCAA) c.1619_1621delinsCAA (p.Thr540=) c.1402-10614_1402-10612delinsCAA (n.1402-10614_1402-10612delinsCAA) c.1955_1957delinsCAA (p.Thr652=) c.2135_2137delinsCAA (p.Thr712=) c.1802_1804delinsCAA (p.Thr601=) | |
7 | g.117592213A>C | CA457449018 | CFTR | c.2046A>C (p.Thr682=) c.*1760A>C (n.*1760A>C) c.1863A>C (p.Thr621=) c.*346A>C (n.*346A>C) c.*1870A>C (n.*1870A>C) c.1620A>C (p.Thr540=) c.1402-10613A>C (n.1402-10613A>C) c.1956A>C (p.Thr652=) c.2136A>C (p.Thr712=) c.1803A>C (p.Thr601=) | |
7 | g.117592213A>G | CA457449019 | CFTR | c.2046A>G (p.Thr682=) c.*1760A>G (n.*1760A>G) c.1863A>G (p.Thr621=) c.*346A>G (n.*346A>G) c.*1870A>G (n.*1870A>G) c.1620A>G (p.Thr540=) c.1402-10613A>G (n.1402-10613A>G) c.1956A>G (p.Thr652=) c.2136A>G (p.Thr712=) c.1803A>G (p.Thr601=) | ClinVar dbSNP |
7 | g.117592213A>T | CA457449020 | CFTR | c.2046A>T (p.Thr682=) c.*1760A>T (n.*1760A>T) c.1863A>T (p.Thr621=) c.*346A>T (n.*346A>T) c.*1870A>T (n.*1870A>T) c.1620A>T (p.Thr540=) c.1402-10613A>T (n.1402-10613A>T) c.1956A>T (p.Thr652=) c.2136A>T (p.Thr712=) c.1803A>T (p.Thr601=) | |
7 | g.117592219dup | CA233699 | CFTR | c.2052dup (p.Gln685ThrfsTer4) c.*1766dup (n.*1766dup) c.1869dup (p.Gln624ThrfsTer4) c.*352dup (n.*352dup) c.*1876dup (n.*1876dup) c.1626dup (p.Gln543ThrfsTer4) c.1402-10607dup (n.1402-10607dup) c.1962dup (p.Gln655ThrfsTer4) c.2142dup (p.Gln715ThrfsTer4) c.1809dup (p.Gln604ThrfsTer4) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592218_117592219dup | CA913190194 | CFTR | c.2051_2052dup (p.Gln685AsnfsTer?) c.*1765_*1766dup (n.*1765_*1766dup) c.1868_1869dup (p.Gln624AsnfsTer?) c.*351_*352dup (n.*351_*352dup) c.*1875_*1876dup (n.*1875_*1876dup) c.1625_1626dup (p.Gln543AsnfsTer?) c.1402-10608_1402-10607dup (n.1402-10608_1402-10607dup) c.1961_1962dup (p.Gln655AsnfsTer?) c.2141_2142dup (p.Gln715AsnfsTer?) c.1808_1809dup (p.Gln604AsnfsTer?) | ClinVar dbSNP |
7 | g.117592219del | CA344706 | CFTR | c.2052del (p.Lys684AsnfsTer?) c.*1766del (n.*1766del) c.1869del (p.Lys623AsnfsTer?) c.*352del (n.*352del) c.*1876del (n.*1876del) c.1626del (p.Lys542AsnfsTer?) c.1402-10607del (n.1402-10607del) c.1962del (p.Lys654AsnfsTer?) c.2142del (p.Lys714AsnfsTer?) c.1809del (p.Lys603AsnfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592218_117592219del | CA326739 | CFTR | c.2051_2052del (p.Lys684ThrfsTer4) c.*1765_*1766del (n.*1765_*1766del) c.1868_1869del (p.Lys623ThrfsTer4) c.*351_*352del (n.*351_*352del) c.*1875_*1876del (n.*1875_*1876del) c.1625_1626del (p.Lys542ThrfsTer4) c.1402-10608_1402-10607del (n.1402-10608_1402-10607del) c.1961_1962del (p.Lys654ThrfsTer4) c.2141_2142del (p.Lys714ThrfsTer4) c.1808_1809del (p.Lys603ThrfsTer4) | ClinVar dbSNP |
7 | g.117592216_117592219del | CA2573052803 | CFTR | c.2049_2052del (p.Lys683AsnfsTer?) c.*1763_*1766del (n.*1763_*1766del) c.1866_1869del (p.Lys622AsnfsTer?) c.*349_*352del (n.*349_*352del) c.*1873_*1876del (n.*1873_*1876del) c.1623_1626del (p.Lys541AsnfsTer?) c.1402-10610_1402-10607del (n.1402-10610_1402-10607del) c.1959_1962del (p.Lys653AsnfsTer?) c.2139_2142del (p.Lys713AsnfsTer?) c.1806_1809del (p.Lys602AsnfsTer?) | ClinVar dbSNP |
7 | g.117592214A>C | CA368979407 | CFTR | c.2047A>C (p.Lys683Gln) c.*1761A>C (n.*1761A>C) c.1864A>C (p.Lys622Gln) c.*347A>C (n.*347A>C) c.*1871A>C (n.*1871A>C) c.1621A>C (p.Lys541Gln) c.1402-10612A>C (n.1402-10612A>C) c.1957A>C (p.Lys653Gln) c.2137A>C (p.Lys713Gln) c.1804A>C (p.Lys602Gln) | |
7 | g.117592214A>G | CA368979409 | CFTR | c.2047A>G (p.Lys683Glu) c.*1761A>G (n.*1761A>G) c.1864A>G (p.Lys622Glu) c.*347A>G (n.*347A>G) c.*1871A>G (n.*1871A>G) c.1621A>G (p.Lys541Glu) c.1402-10612A>G (n.1402-10612A>G) c.1957A>G (p.Lys653Glu) c.2137A>G (p.Lys713Glu) c.1804A>G (p.Lys602Glu) | |
7 | g.117592214A>T | CA368979411 | CFTR | c.2047A>T (p.Lys683Ter) c.*1761A>T (n.*1761A>T) c.1864A>T (p.Lys622Ter) c.*347A>T (n.*347A>T) c.*1871A>T (n.*1871A>T) c.1621A>T (p.Lys541Ter) c.1402-10612A>T (n.1402-10612A>T) c.1957A>T (p.Lys653Ter) c.2137A>T (p.Lys713Ter) c.1804A>T (p.Lys602Ter) | |
7 | g.117592215A= | CA1737394598 | CFTR | c.2048A= (p.Lys683=) c.*1762A= (n.*1762A=) c.1865A= (p.Lys622=) c.*348A= (n.*348A=) c.*1872A= (n.*1872A=) c.1622A= (p.Lys541=) c.1402-10611A= (n.1402-10611A=) c.1958A= (p.Lys653=) c.2138A= (p.Lys713=) c.1805A= (p.Lys602=) | |
7 | g.117592215A>C | CA368979414 | CFTR | c.2048A>C (p.Lys683Thr) c.*1762A>C (n.*1762A>C) c.1865A>C (p.Lys622Thr) c.*348A>C (n.*348A>C) c.*1872A>C (n.*1872A>C) c.1622A>C (p.Lys541Thr) c.1402-10611A>C (n.1402-10611A>C) c.1958A>C (p.Lys653Thr) c.2138A>C (p.Lys713Thr) c.1805A>C (p.Lys602Thr) | |
7 | g.117592215A>G | CA164947738 | CFTR | c.2048A>G (p.Lys683Arg) c.*1762A>G (n.*1762A>G) c.1865A>G (p.Lys622Arg) c.*348A>G (n.*348A>G) c.*1872A>G (n.*1872A>G) c.1622A>G (p.Lys541Arg) c.1402-10611A>G (n.1402-10611A>G) c.1958A>G (p.Lys653Arg) c.2138A>G (p.Lys713Arg) c.1805A>G (p.Lys602Arg) | dbSNP gnomAD v3 |
7 | g.117592215A>T | CA368979417 | CFTR | c.2048A>T (p.Lys683Ile) c.*1762A>T (n.*1762A>T) c.1865A>T (p.Lys622Ile) c.*348A>T (n.*348A>T) c.*1872A>T (n.*1872A>T) c.1622A>T (p.Lys541Ile) c.1402-10611A>T (n.1402-10611A>T) c.1958A>T (p.Lys653Ile) c.2138A>T (p.Lys713Ile) c.1805A>T (p.Lys602Ile) | |
7 | g.117592216A>C | CA368979421 | CFTR | c.2049A>C (p.Lys683Asn) c.*1763A>C (n.*1763A>C) c.1866A>C (p.Lys622Asn) c.*349A>C (n.*349A>C) c.*1873A>C (n.*1873A>C) c.1623A>C (p.Lys541Asn) c.1402-10610A>C (n.1402-10610A>C) c.1959A>C (p.Lys653Asn) c.2139A>C (p.Lys713Asn) c.1806A>C (p.Lys602Asn) | |
7 | g.117592216A>G | CA457449021 | CFTR | c.2049A>G (p.Lys683=) c.*1763A>G (n.*1763A>G) c.1866A>G (p.Lys622=) c.*349A>G (n.*349A>G) c.*1873A>G (n.*1873A>G) c.1623A>G (p.Lys541=) c.1402-10610A>G (n.1402-10610A>G) c.1959A>G (p.Lys653=) c.2139A>G (p.Lys713=) c.1806A>G (p.Lys602=) | |
7 | g.117592216A>T | CA368979423 | CFTR | c.2049A>T (p.Lys683Asn) c.*1763A>T (n.*1763A>T) c.1866A>T (p.Lys622Asn) c.*349A>T (n.*349A>T) c.*1873A>T (n.*1873A>T) c.1623A>T (p.Lys541Asn) c.1402-10610A>T (n.1402-10610A>T) c.1959A>T (p.Lys653Asn) c.2139A>T (p.Lys713Asn) c.1806A>T (p.Lys602Asn) | |
7 | g.117592216_117592220delinsAAAAC | CA1737394602 | CFTR | c.2049_2053delinsAAAAC (p.Lys683=) c.*1763_*1767delinsAAAAC (n.*1763_*1767delinsAAAAC) c.1866_1870delinsAAAAC (p.Lys622=) c.*349_*353delinsAAAAC (n.*349_*353delinsAAAAC) c.*1873_*1877delinsAAAAC (n.*1873_*1877delinsAAAAC) c.1623_1627delinsAAAAC (p.Lys541=) c.1402-10610_1402-10606delinsAAAAC (n.1402-10610_1402-10606delinsAAAAC) c.1959_1963delinsAAAAC (p.Lys653=) c.2139_2143delinsAAAAC (p.Lys713=) c.1806_1810delinsAAAAC (p.Lys602=) | |
7 | g.117592217A>C | CA368979433 | CFTR | c.2050A>C (p.Lys684Gln) c.*1764A>C (n.*1764A>C) c.1867A>C (p.Lys623Gln) c.*350A>C (n.*350A>C) c.*1874A>C (n.*1874A>C) c.1624A>C (p.Lys542Gln) c.1402-10609A>C (n.1402-10609A>C) c.1960A>C (p.Lys654Gln) c.2140A>C (p.Lys714Gln) c.1807A>C (p.Lys603Gln) | |
7 | g.117592217A>G | CA368979432 | CFTR | c.2050A>G (p.Lys684Glu) c.*1764A>G (n.*1764A>G) c.1867A>G (p.Lys623Glu) c.*350A>G (n.*350A>G) c.*1874A>G (n.*1874A>G) c.1624A>G (p.Lys542Glu) c.1402-10609A>G (n.1402-10609A>G) c.1960A>G (p.Lys654Glu) c.2140A>G (p.Lys714Glu) c.1807A>G (p.Lys603Glu) | |
7 | g.117592217A>T | CA368979427 | CFTR | c.2050A>T (p.Lys684Ter) c.*1764A>T (n.*1764A>T) c.1867A>T (p.Lys623Ter) c.*350A>T (n.*350A>T) c.*1874A>T (n.*1874A>T) c.1624A>T (p.Lys542Ter) c.1402-10609A>T (n.1402-10609A>T) c.1960A>T (p.Lys654Ter) c.2140A>T (p.Lys714Ter) c.1807A>T (p.Lys603Ter) | |
7 | g.117592217_117592219delinsAAA | CA1737394609 | CFTR | c.2050_2052delinsAAA (p.Lys684=) c.*1764_*1766delinsAAA (n.*1764_*1766delinsAAA) c.1867_1869delinsAAA (p.Lys623=) c.*350_*352delinsAAA (n.*350_*352delinsAAA) c.*1874_*1876delinsAAA (n.*1874_*1876delinsAAA) c.1624_1626delinsAAA (p.Lys542=) c.1402-10609_1402-10607delinsAAA (n.1402-10609_1402-10607delinsAAA) c.1960_1962delinsAAA (p.Lys654=) c.2140_2142delinsAAA (p.Lys714=) c.1807_1809delinsAAA (p.Lys603=) | |
7 | g.117592217_117592220delinsAAAC | CA1737394607 | CFTR | c.2050_2053delinsAAAC (p.Lys684=) c.*1764_*1767delinsAAAC (n.*1764_*1767delinsAAAC) c.1867_1870delinsAAAC (p.Lys623=) c.*350_*353delinsAAAC (n.*350_*353delinsAAAC) c.*1874_*1877delinsAAAC (n.*1874_*1877delinsAAAC) c.1624_1627delinsAAAC (p.Lys542=) c.1402-10609_1402-10606delinsAAAC (n.1402-10609_1402-10606delinsAAAC) c.1960_1963delinsAAAC (p.Lys654=) c.2140_2143delinsAAAC (p.Lys714=) c.1807_1810delinsAAAC (p.Lys603=) | |
7 | g.117592219_117592222del | CA368979429 | CFTR | c.2052_2055del (p.Lys684AsnfsTer?) c.*1766_*1769del (n.*1766_*1769del) c.1869_1872del (p.Lys623AsnfsTer?) c.*352_*355del (n.*352_*355del) c.*1876_*1879del (n.*1876_*1879del) c.1626_1629del (p.Lys542AsnfsTer?) c.1402-10607_1402-10604del (n.1402-10607_1402-10604del) c.1962_1965del (p.Lys654AsnfsTer?) c.2142_2145del (p.Lys714AsnfsTer?) c.1809_1812del (p.Lys603AsnfsTer?) | dbSNP |
7 | g.117592218A= | CA1737394622 | CFTR | c.2051A= (p.Lys684=) c.*1765A= (n.*1765A=) c.1868A= (p.Lys623=) c.*351A= (n.*351A=) c.*1875A= (n.*1875A=) c.1625A= (p.Lys542=) c.1402-10608A= (n.1402-10608A=) c.1961A= (p.Lys654=) c.2141A= (p.Lys714=) c.1808A= (p.Lys603=) | |
7 | g.117592218A>C | CA368979438 | CFTR | c.2051A>C (p.Lys684Thr) c.*1765A>C (n.*1765A>C) c.1868A>C (p.Lys623Thr) c.*351A>C (n.*351A>C) c.*1875A>C (n.*1875A>C) c.1625A>C (p.Lys542Thr) c.1402-10608A>C (n.1402-10608A>C) c.1961A>C (p.Lys654Thr) c.2141A>C (p.Lys714Thr) c.1808A>C (p.Lys603Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592218A>G | CA164947746 | CFTR | c.2051A>G (p.Lys684Arg) c.*1765A>G (n.*1765A>G) c.1868A>G (p.Lys623Arg) c.*351A>G (n.*351A>G) c.*1875A>G (n.*1875A>G) c.1625A>G (p.Lys542Arg) c.1402-10608A>G (n.1402-10608A>G) c.1961A>G (p.Lys654Arg) c.2141A>G (p.Lys714Arg) c.1808A>G (p.Lys603Arg) | dbSNP |
7 | g.117592218A>T | CA368979436 | CFTR | c.2051A>T (p.Lys684Ile) c.*1765A>T (n.*1765A>T) c.1868A>T (p.Lys623Ile) c.*351A>T (n.*351A>T) c.*1875A>T (n.*1875A>T) c.1625A>T (p.Lys542Ile) c.1402-10608A>T (n.1402-10608A>T) c.1961A>T (p.Lys654Ile) c.2141A>T (p.Lys714Ile) c.1808A>T (p.Lys603Ile) | |
7 | g.117592218_117592219delinsG | CA325699 | CFTR | c.2051_2052delinsG (p.Lys684SerfsTer?) c.*1765_*1766delinsG (n.*1765_*1766delinsG) c.1868_1869delinsG (p.Lys623SerfsTer?) c.*351_*352delinsG (n.*351_*352delinsG) c.*1875_*1876delinsG (n.*1875_*1876delinsG) c.1625_1626delinsG (p.Lys542SerfsTer?) c.1402-10608_1402-10607delinsG (n.1402-10608_1402-10607delinsG) c.1961_1962delinsG (p.Lys654SerfsTer?) c.2141_2142delinsG (p.Lys714SerfsTer?) c.1808_1809delinsG (p.Lys603SerfsTer?) | ClinVar dbSNP |
7 | g.117592220_117592222del | CA577680764 | CFTR | c.2053_2055del (p.Gln685del) c.*1767_*1769del (n.*1767_*1769del) c.1870_1872del (p.Gln624del) c.*353_*355del (n.*353_*355del) c.*1877_*1879del (n.*1877_*1879del) c.1627_1629del (p.Gln543del) c.1402-10606_1402-10604del (n.1402-10606_1402-10604del) c.1963_1965del (p.Gln655del) c.2143_2145del (p.Gln715del) c.1810_1812del (p.Gln604del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |