| 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.117592117C>A | CA4451120 | CFTR | c.1950C>A (p.Phe650Leu) c.*1664C>A (n.*1664C>A) c.1767C>A (p.Phe589Leu) c.*250C>A (n.*250C>A) c.*1774C>A (n.*1774C>A) c.1524C>A (p.Phe508Leu) c.1402-10709C>A (n.1402-10709C>A) c.1860C>A (p.Phe620Leu) c.2040C>A (p.Phe680Leu) c.1707C>A (p.Phe569Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592117C= | CA1737394298 | CFTR | c.1950C= (p.Phe650=) c.*1664C= (n.*1664C=) c.1767C= (p.Phe589=) c.*250C= (n.*250C=) c.*1774C= (n.*1774C=) c.1524C= (p.Phe508=) c.1402-10709C= (n.1402-10709C=) c.1860C= (p.Phe620=) c.2040C= (p.Phe680=) c.1707C= (p.Phe569=) | |
| 7 | g.117592117C>G | CA368978968 | CFTR | c.1950C>G (p.Phe650Leu) c.*1664C>G (n.*1664C>G) c.1767C>G (p.Phe589Leu) c.*250C>G (n.*250C>G) c.*1774C>G (n.*1774C>G) c.1524C>G (p.Phe508Leu) c.1402-10709C>G (n.1402-10709C>G) c.1860C>G (p.Phe620Leu) c.2040C>G (p.Phe680Leu) c.1707C>G (p.Phe569Leu) | |
| 7 | g.117592117C>T | CA4451119 | CFTR | c.1950C>T (p.Phe650=) c.*1664C>T (n.*1664C>T) c.1767C>T (p.Phe589=) c.*250C>T (n.*250C>T) c.*1774C>T (n.*1774C>T) c.1524C>T (p.Phe508=) c.1402-10709C>T (n.1402-10709C>T) c.1860C>T (p.Phe620=) c.2040C>T (p.Phe680=) c.1707C>T (p.Phe569=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117592118G>A | CA4451121 | CFTR | c.1951G>A (p.Asp651Asn) c.*1665G>A (n.*1665G>A) c.1768G>A (p.Asp590Asn) c.*251G>A (n.*251G>A) c.*1775G>A (n.*1775G>A) c.1525G>A (p.Asp509Asn) c.1402-10708G>A (n.1402-10708G>A) c.1861G>A (p.Asp621Asn) c.2041G>A (p.Asp681Asn) c.1708G>A (p.Asp570Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592118G>C | CA368978971 | CFTR | c.1951G>C (p.Asp651His) c.*1665G>C (n.*1665G>C) c.1768G>C (p.Asp590His) c.*251G>C (n.*251G>C) c.*1775G>C (n.*1775G>C) c.1525G>C (p.Asp509His) c.1402-10708G>C (n.1402-10708G>C) c.1861G>C (p.Asp621His) c.2041G>C (p.Asp681His) c.1708G>C (p.Asp570His) | ClinVar |
| 7 | g.117592118G= | CA1737394302 | CFTR | c.1951G= (p.Asp651=) c.*1665G= (n.*1665G=) c.1768G= (p.Asp590=) c.*251G= (n.*251G=) c.*1775G= (n.*1775G=) c.1525G= (p.Asp509=) c.1402-10708G= (n.1402-10708G=) c.1861G= (p.Asp621=) c.2041G= (p.Asp681=) c.1708G= (p.Asp570=) | |
| 7 | g.117592118G>T | CA368978972 | CFTR | c.1951G>T (p.Asp651Tyr) c.*1665G>T (n.*1665G>T) c.1768G>T (p.Asp590Tyr) c.*251G>T (n.*251G>T) c.*1775G>T (n.*1775G>T) c.1525G>T (p.Asp509Tyr) c.1402-10708G>T (n.1402-10708G>T) c.1861G>T (p.Asp621Tyr) c.2041G>T (p.Asp681Tyr) c.1708G>T (p.Asp570Tyr) | |
| 7 | g.117592119A>C | CA368978975 | CFTR | c.1952A>C (p.Asp651Ala) c.*1666A>C (n.*1666A>C) c.1769A>C (p.Asp590Ala) c.*252A>C (n.*252A>C) c.*1776A>C (n.*1776A>C) c.1526A>C (p.Asp509Ala) c.1402-10707A>C (n.1402-10707A>C) c.1862A>C (p.Asp621Ala) c.2042A>C (p.Asp681Ala) c.1709A>C (p.Asp570Ala) | |
| 7 | g.117592119A>G | CA368978977 | CFTR | c.1952A>G (p.Asp651Gly) c.*1666A>G (n.*1666A>G) c.1769A>G (p.Asp590Gly) c.*252A>G (n.*252A>G) c.*1776A>G (n.*1776A>G) c.1526A>G (p.Asp509Gly) c.1402-10707A>G (n.1402-10707A>G) c.1862A>G (p.Asp621Gly) c.2042A>G (p.Asp681Gly) c.1709A>G (p.Asp570Gly) | |
| 7 | g.117592119A>T | CA368978978 | CFTR | c.1952A>T (p.Asp651Val) c.*1666A>T (n.*1666A>T) c.1769A>T (p.Asp590Val) c.*252A>T (n.*252A>T) c.*1776A>T (n.*1776A>T) c.1526A>T (p.Asp509Val) c.1402-10707A>T (n.1402-10707A>T) c.1862A>T (p.Asp621Val) c.2042A>T (p.Asp681Val) c.1709A>T (p.Asp570Val) | |
| 7 | g.117592120C>A | CA368978981 | CFTR | c.1953C>A (p.Asp651Glu) c.*1667C>A (n.*1667C>A) c.1770C>A (p.Asp590Glu) c.*253C>A (n.*253C>A) c.*1777C>A (n.*1777C>A) c.1527C>A (p.Asp509Glu) c.1402-10706C>A (n.1402-10706C>A) c.1863C>A (p.Asp621Glu) c.2043C>A (p.Asp681Glu) c.1710C>A (p.Asp570Glu) | |
| 7 | g.117592120C>G | CA368978983 | CFTR | c.1953C>G (p.Asp651Glu) c.*1667C>G (n.*1667C>G) c.1770C>G (p.Asp590Glu) c.*253C>G (n.*253C>G) c.*1777C>G (n.*1777C>G) c.1527C>G (p.Asp509Glu) c.1402-10706C>G (n.1402-10706C>G) c.1863C>G (p.Asp621Glu) c.2043C>G (p.Asp681Glu) c.1710C>G (p.Asp570Glu) | |
| 7 | g.117592120C>T | CA457448903 | CFTR | c.1953C>T (p.Asp651=) c.*1667C>T (n.*1667C>T) c.1770C>T (p.Asp590=) c.*253C>T (n.*253C>T) c.*1777C>T (n.*1777C>T) c.1527C>T (p.Asp509=) c.1402-10706C>T (n.1402-10706C>T) c.1863C>T (p.Asp621=) c.2043C>T (p.Asp681=) c.1710C>T (p.Asp570=) | ClinVar gnomAD v4 |
| 7 | g.117592121C>A | CA4451122 | CFTR | c.1954C>A (p.Gln652Lys) c.*1668C>A (n.*1668C>A) c.1771C>A (p.Gln591Lys) c.*254C>A (n.*254C>A) c.*1778C>A (n.*1778C>A) c.1528C>A (p.Gln510Lys) c.1402-10705C>A (n.1402-10705C>A) c.1864C>A (p.Gln622Lys) c.2044C>A (p.Gln682Lys) c.1711C>A (p.Gln571Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592121C= | CA1737394308 | CFTR | c.1954C= (p.Gln652=) c.*1668C= (n.*1668C=) c.1771C= (p.Gln591=) c.*254C= (n.*254C=) c.*1778C= (n.*1778C=) c.1528C= (p.Gln510=) c.1402-10705C= (n.1402-10705C=) c.1864C= (p.Gln622=) c.2044C= (p.Gln682=) c.1711C= (p.Gln571=) | |
| 7 | g.117592121C>G | CA4451123 | CFTR | c.1954C>G (p.Gln652Glu) c.*1668C>G (n.*1668C>G) c.1771C>G (p.Gln591Glu) c.*254C>G (n.*254C>G) c.*1778C>G (n.*1778C>G) c.1528C>G (p.Gln510Glu) c.1402-10705C>G (n.1402-10705C>G) c.1864C>G (p.Gln622Glu) c.2044C>G (p.Gln682Glu) c.1711C>G (p.Gln571Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592121C>T | CA368978987 | CFTR | c.1954C>T (p.Gln652Ter) c.*1668C>T (n.*1668C>T) c.1771C>T (p.Gln591Ter) c.*254C>T (n.*254C>T) c.*1778C>T (n.*1778C>T) c.1528C>T (p.Gln510Ter) c.1402-10705C>T (n.1402-10705C>T) c.1864C>T (p.Gln622Ter) c.2044C>T (p.Gln682Ter) c.1711C>T (p.Gln571Ter) | |
| 7 | g.117592122A>C | CA368978988 | CFTR | c.1955A>C (p.Gln652Pro) c.*1669A>C (n.*1669A>C) c.1772A>C (p.Gln591Pro) c.*255A>C (n.*255A>C) c.*1779A>C (n.*1779A>C) c.1529A>C (p.Gln510Pro) c.1402-10704A>C (n.1402-10704A>C) c.1865A>C (p.Gln622Pro) c.2045A>C (p.Gln682Pro) c.1712A>C (p.Gln571Pro) | ClinVar gnomAD v4 |
| 7 | g.117592122A>G | CA368978989 | CFTR | c.1955A>G (p.Gln652Arg) c.*1669A>G (n.*1669A>G) c.1772A>G (p.Gln591Arg) c.*255A>G (n.*255A>G) c.*1779A>G (n.*1779A>G) c.1529A>G (p.Gln510Arg) c.1402-10704A>G (n.1402-10704A>G) c.1865A>G (p.Gln622Arg) c.2045A>G (p.Gln682Arg) c.1712A>G (p.Gln571Arg) | |
| 7 | g.117592122A>T | CA368978990 | CFTR | c.1955A>T (p.Gln652Leu) c.*1669A>T (n.*1669A>T) c.1772A>T (p.Gln591Leu) c.*255A>T (n.*255A>T) c.*1779A>T (n.*1779A>T) c.1529A>T (p.Gln510Leu) c.1402-10704A>T (n.1402-10704A>T) c.1865A>T (p.Gln622Leu) c.2045A>T (p.Gln682Leu) c.1712A>T (p.Gln571Leu) | |
| 7 | g.117592123A>C | CA368978991 | CFTR | c.1956A>C (p.Gln652His) c.*1670A>C (n.*1670A>C) c.1773A>C (p.Gln591His) c.*256A>C (n.*256A>C) c.*1780A>C (n.*1780A>C) c.1530A>C (p.Gln510His) c.1402-10703A>C (n.1402-10703A>C) c.1866A>C (p.Gln622His) c.2046A>C (p.Gln682His) c.1713A>C (p.Gln571His) | |
| 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) |