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.117591935T>A | CA368977722 | CFTR | c.1768T>A (p.Cys590Ser) c.*1482T>A (n.*1482T>A) c.1585T>A (p.Cys529Ser) c.*68T>A (n.*68T>A) c.*1592T>A (n.*1592T>A) c.1342T>A (p.Cys448Ser) c.1402-10891T>A (n.1402-10891T>A) c.1678T>A (p.Cys560Ser) c.1858T>A (p.Cys620Ser) c.1525T>A (p.Cys509Ser) | |
7 | g.117591935T>C | CA368977724 | CFTR | c.1768T>C (p.Cys590Arg) c.*1482T>C (n.*1482T>C) c.1585T>C (p.Cys529Arg) c.*68T>C (n.*68T>C) c.*1592T>C (n.*1592T>C) c.1342T>C (p.Cys448Arg) c.1402-10891T>C (n.1402-10891T>C) c.1678T>C (p.Cys560Arg) c.1858T>C (p.Cys620Arg) c.1525T>C (p.Cys509Arg) | gnomAD v4 |
7 | g.117591935T>G | CA368977726 | CFTR | c.1768T>G (p.Cys590Gly) c.*1482T>G (n.*1482T>G) c.1585T>G (p.Cys529Gly) c.*68T>G (n.*68T>G) c.*1592T>G (n.*1592T>G) c.1342T>G (p.Cys448Gly) c.1402-10891T>G (n.1402-10891T>G) c.1678T>G (p.Cys560Gly) c.1858T>G (p.Cys620Gly) c.1525T>G (p.Cys509Gly) | |
7 | g.117591936G>A | CA368977729 | CFTR | c.1769G>A (p.Cys590Tyr) c.*1483G>A (n.*1483G>A) c.1586G>A (p.Cys529Tyr) c.*69G>A (n.*69G>A) c.*1593G>A (n.*1593G>A) c.1343G>A (p.Cys448Tyr) c.1402-10890G>A (n.1402-10890G>A) c.1679G>A (p.Cys560Tyr) c.1859G>A (p.Cys620Tyr) c.1526G>A (p.Cys509Tyr) | ClinVar dbSNP gnomAD v4 |
7 | g.117591936G>C | CA368977731 | CFTR | c.1769G>C (p.Cys590Ser) c.*1483G>C (n.*1483G>C) c.1586G>C (p.Cys529Ser) c.*69G>C (n.*69G>C) c.*1593G>C (n.*1593G>C) c.1343G>C (p.Cys448Ser) c.1402-10890G>C (n.1402-10890G>C) c.1679G>C (p.Cys560Ser) c.1859G>C (p.Cys620Ser) c.1526G>C (p.Cys509Ser) | ClinVar dbSNP |
7 | g.117591936G= | CA1737393776 | CFTR | c.1769G= (p.Cys590=) c.*1483G= (n.*1483G=) c.1586G= (p.Cys529=) c.*69G= (n.*69G=) c.*1593G= (n.*1593G=) c.1343G= (p.Cys448=) c.1402-10890G= (n.1402-10890G=) c.1679G= (p.Cys560=) c.1859G= (p.Cys620=) c.1526G= (p.Cys509=) | |
7 | g.117591936G>T | CA368977734 | CFTR | c.1769G>T (p.Cys590Phe) c.*1483G>T (n.*1483G>T) c.1586G>T (p.Cys529Phe) c.*69G>T (n.*69G>T) c.*1593G>T (n.*1593G>T) c.1343G>T (p.Cys448Phe) c.1402-10890G>T (n.1402-10890G>T) c.1679G>T (p.Cys560Phe) c.1859G>T (p.Cys620Phe) c.1526G>T (p.Cys509Phe) | |
7 | g.117591937T>A | CA368977739 | CFTR | c.1770T>A (p.Cys590Ter) c.*1484T>A (n.*1484T>A) c.1587T>A (p.Cys529Ter) c.*70T>A (n.*70T>A) c.*1594T>A (n.*1594T>A) c.1344T>A (p.Cys448Ter) c.1402-10889T>A (n.1402-10889T>A) c.1680T>A (p.Cys560Ter) c.1860T>A (p.Cys620Ter) c.1527T>A (p.Cys509Ter) | gnomAD v4 |
7 | g.117591937T>C | CA457448806 | CFTR | c.1770T>C (p.Cys590=) c.*1484T>C (n.*1484T>C) c.1587T>C (p.Cys529=) c.*70T>C (n.*70T>C) c.*1594T>C (n.*1594T>C) c.1344T>C (p.Cys448=) c.1402-10889T>C (n.1402-10889T>C) c.1680T>C (p.Cys560=) c.1860T>C (p.Cys620=) c.1527T>C (p.Cys509=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117591937T>G | CA368977737 | CFTR | c.1770T>G (p.Cys590Trp) c.*1484T>G (n.*1484T>G) c.1587T>G (p.Cys529Trp) c.*70T>G (n.*70T>G) c.*1594T>G (n.*1594T>G) c.1344T>G (p.Cys448Trp) c.1402-10889T>G (n.1402-10889T>G) c.1680T>G (p.Cys560Trp) c.1860T>G (p.Cys620Trp) c.1527T>G (p.Cys509Trp) | |
7 | g.117591937T= | CA1737393778 | CFTR | c.1770T= (p.Cys590=) c.*1484T= (n.*1484T=) c.1587T= (p.Cys529=) c.*70T= (n.*70T=) c.*1594T= (n.*1594T=) c.1344T= (p.Cys448=) c.1402-10889T= (n.1402-10889T=) c.1680T= (p.Cys560=) c.1860T= (p.Cys620=) c.1527T= (p.Cys509=) | |
7 | g.117591938G>A | CA368977742 | CFTR | c.1771G>A (p.Val591Ile) c.*1485G>A (n.*1485G>A) c.1588G>A (p.Val530Ile) c.*71G>A (n.*71G>A) c.*1595G>A (n.*1595G>A) c.1345G>A (p.Val449Ile) c.1402-10888G>A (n.1402-10888G>A) c.1681G>A (p.Val561Ile) c.1861G>A (p.Val621Ile) c.1528G>A (p.Val510Ile) | ClinVar gnomAD v4 |
7 | g.117591938G>C | CA368977743 | CFTR | c.1771G>C (p.Val591Leu) c.*1485G>C (n.*1485G>C) c.1588G>C (p.Val530Leu) c.*71G>C (n.*71G>C) c.*1595G>C (n.*1595G>C) c.1345G>C (p.Val449Leu) c.1402-10888G>C (n.1402-10888G>C) c.1681G>C (p.Val561Leu) c.1861G>C (p.Val621Leu) c.1528G>C (p.Val510Leu) | |
7 | g.117591938G>T | CA368977746 | CFTR | c.1771G>T (p.Val591Phe) c.*1485G>T (n.*1485G>T) c.1588G>T (p.Val530Phe) c.*71G>T (n.*71G>T) c.*1595G>T (n.*1595G>T) c.1345G>T (p.Val449Phe) c.1402-10888G>T (n.1402-10888G>T) c.1681G>T (p.Val561Phe) c.1861G>T (p.Val621Phe) c.1528G>T (p.Val510Phe) | |
7 | g.117591939T>A | CA368977747 | CFTR | c.1772T>A (p.Val591Asp) c.*1486T>A (n.*1486T>A) c.1589T>A (p.Val530Asp) c.*72T>A (n.*72T>A) c.*1596T>A (n.*1596T>A) c.1346T>A (p.Val449Asp) c.1402-10887T>A (n.1402-10887T>A) c.1682T>A (p.Val561Asp) c.1862T>A (p.Val621Asp) c.1529T>A (p.Val510Asp) | |
7 | g.117591939T>C | CA368977748 | CFTR | c.1772T>C (p.Val591Ala) c.*1486T>C (n.*1486T>C) c.1589T>C (p.Val530Ala) c.*72T>C (n.*72T>C) c.*1596T>C (n.*1596T>C) c.1346T>C (p.Val449Ala) c.1402-10887T>C (n.1402-10887T>C) c.1682T>C (p.Val561Ala) c.1862T>C (p.Val621Ala) c.1529T>C (p.Val510Ala) | |
7 | g.117591939T>G | CA368977749 | CFTR | c.1772T>G (p.Val591Gly) c.*1486T>G (n.*1486T>G) c.1589T>G (p.Val530Gly) c.*72T>G (n.*72T>G) c.*1596T>G (n.*1596T>G) c.1346T>G (p.Val449Gly) c.1402-10887T>G (n.1402-10887T>G) c.1682T>G (p.Val561Gly) c.1862T>G (p.Val621Gly) c.1529T>G (p.Val510Gly) | |
7 | g.117591940C>A | CA457448807 | CFTR | c.1773C>A (p.Val591=) c.*1487C>A (n.*1487C>A) c.1590C>A (p.Val530=) c.*73C>A (n.*73C>A) c.*1597C>A (n.*1597C>A) c.1347C>A (p.Val449=) c.1402-10886C>A (n.1402-10886C>A) c.1683C>A (p.Val561=) c.1863C>A (p.Val621=) c.1530C>A (p.Val510=) | gnomAD v4 |
7 | g.117591940C>G | CA457448808 | CFTR | c.1773C>G (p.Val591=) c.*1487C>G (n.*1487C>G) c.1590C>G (p.Val530=) c.*73C>G (n.*73C>G) c.*1597C>G (n.*1597C>G) c.1347C>G (p.Val449=) c.1402-10886C>G (n.1402-10886C>G) c.1683C>G (p.Val561=) c.1863C>G (p.Val621=) c.1530C>G (p.Val510=) | |
7 | g.117591940C>T | CA457448809 | CFTR | c.1773C>T (p.Val591=) c.*1487C>T (n.*1487C>T) c.1590C>T (p.Val530=) c.*73C>T (n.*73C>T) c.*1597C>T (n.*1597C>T) c.1347C>T (p.Val449=) c.1402-10886C>T (n.1402-10886C>T) c.1683C>T (p.Val561=) c.1863C>T (p.Val621=) c.1530C>T (p.Val510=) | ClinVar |
7 | g.117591941T>A | CA368977758 | CFTR | c.1774T>A (p.Cys592Ser) c.*1488T>A (n.*1488T>A) c.1591T>A (p.Cys531Ser) c.*74T>A (n.*74T>A) c.*1598T>A (n.*1598T>A) c.1348T>A (p.Cys450Ser) c.1402-10885T>A (n.1402-10885T>A) c.1684T>A (p.Cys562Ser) c.1864T>A (p.Cys622Ser) c.1531T>A (p.Cys511Ser) | |
7 | g.117591941T>C | CA368977751 | CFTR | c.1774T>C (p.Cys592Arg) c.*1488T>C (n.*1488T>C) c.1591T>C (p.Cys531Arg) c.*74T>C (n.*74T>C) c.*1598T>C (n.*1598T>C) c.1348T>C (p.Cys450Arg) c.1402-10885T>C (n.1402-10885T>C) c.1684T>C (p.Cys562Arg) c.1864T>C (p.Cys622Arg) c.1531T>C (p.Cys511Arg) | gnomAD v4 |
7 | g.117591941T>G | CA368977754 | CFTR | c.1774T>G (p.Cys592Gly) c.*1488T>G (n.*1488T>G) c.1591T>G (p.Cys531Gly) c.*74T>G (n.*74T>G) c.*1598T>G (n.*1598T>G) c.1348T>G (p.Cys450Gly) c.1402-10885T>G (n.1402-10885T>G) c.1684T>G (p.Cys562Gly) c.1864T>G (p.Cys622Gly) c.1531T>G (p.Cys511Gly) | |
7 | g.117591942G>A | CA4451093 | CFTR | c.1775G>A (p.Cys592Tyr) c.*1489G>A (n.*1489G>A) c.1592G>A (p.Cys531Tyr) c.*75G>A (n.*75G>A) c.*1599G>A (n.*1599G>A) c.1349G>A (p.Cys450Tyr) c.1402-10884G>A (n.1402-10884G>A) c.1685G>A (p.Cys562Tyr) c.1865G>A (p.Cys622Tyr) c.1532G>A (p.Cys511Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117591942G>C | CA368977761 | CFTR | c.1775G>C (p.Cys592Ser) c.*1489G>C (n.*1489G>C) c.1592G>C (p.Cys531Ser) c.*75G>C (n.*75G>C) c.*1599G>C (n.*1599G>C) c.1349G>C (p.Cys450Ser) c.1402-10884G>C (n.1402-10884G>C) c.1685G>C (p.Cys562Ser) c.1865G>C (p.Cys622Ser) c.1532G>C (p.Cys511Ser) | |
7 | g.117591942G= | CA1737393781 | CFTR | c.1775G= (p.Cys592=) c.*1489G= (n.*1489G=) c.1592G= (p.Cys531=) c.*75G= (n.*75G=) c.*1599G= (n.*1599G=) c.1349G= (p.Cys450=) c.1402-10884G= (n.1402-10884G=) c.1685G= (p.Cys562=) c.1865G= (p.Cys622=) c.1532G= (p.Cys511=) | |
7 | g.117591942G>T | CA368977768 | CFTR | c.1775G>T (p.Cys592Phe) c.*1489G>T (n.*1489G>T) c.1592G>T (p.Cys531Phe) c.*75G>T (n.*75G>T) c.*1599G>T (n.*1599G>T) c.1349G>T (p.Cys450Phe) c.1402-10884G>T (n.1402-10884G>T) c.1685G>T (p.Cys562Phe) c.1865G>T (p.Cys622Phe) c.1532G>T (p.Cys511Phe) | |
7 | g.117591943T>A | CA368977769 | CFTR | c.1776T>A (p.Cys592Ter) c.*1490T>A (n.*1490T>A) c.1593T>A (p.Cys531Ter) c.*76T>A (n.*76T>A) c.*1600T>A (n.*1600T>A) c.1350T>A (p.Cys450Ter) c.1402-10883T>A (n.1402-10883T>A) c.1686T>A (p.Cys562Ter) c.1866T>A (p.Cys622Ter) c.1533T>A (p.Cys511Ter) | |
7 | g.117591943T>C | CA457448810 | CFTR | c.1776T>C (p.Cys592=) c.*1490T>C (n.*1490T>C) c.1593T>C (p.Cys531=) c.*76T>C (n.*76T>C) c.*1600T>C (n.*1600T>C) c.1350T>C (p.Cys450=) c.1402-10883T>C (n.1402-10883T>C) c.1686T>C (p.Cys562=) c.1866T>C (p.Cys622=) c.1533T>C (p.Cys511=) | gnomAD v4 |
7 | g.117591943T>G | CA368977770 | CFTR | c.1776T>G (p.Cys592Trp) c.*1490T>G (n.*1490T>G) c.1593T>G (p.Cys531Trp) c.*76T>G (n.*76T>G) c.*1600T>G (n.*1600T>G) c.1350T>G (p.Cys450Trp) c.1402-10883T>G (n.1402-10883T>G) c.1686T>G (p.Cys562Trp) c.1866T>G (p.Cys622Trp) c.1533T>G (p.Cys511Trp) | |
7 | g.117591944A>C | CA368977773 | CFTR | c.1777A>C (p.Lys593Gln) c.*1491A>C (n.*1491A>C) c.1594A>C (p.Lys532Gln) c.*77A>C (n.*77A>C) c.*1601A>C (n.*1601A>C) c.1351A>C (p.Lys451Gln) c.1402-10882A>C (n.1402-10882A>C) c.1687A>C (p.Lys563Gln) c.1867A>C (p.Lys623Gln) c.1534A>C (p.Lys512Gln) | |
7 | g.117591944A>G | CA368977778 | CFTR | c.1777A>G (p.Lys593Glu) c.*1491A>G (n.*1491A>G) c.1594A>G (p.Lys532Glu) c.*77A>G (n.*77A>G) c.*1601A>G (n.*1601A>G) c.1351A>G (p.Lys451Glu) c.1402-10882A>G (n.1402-10882A>G) c.1687A>G (p.Lys563Glu) c.1867A>G (p.Lys623Glu) c.1534A>G (p.Lys512Glu) | gnomAD v4 |
7 | g.117591944A>T | CA368977775 | CFTR | c.1777A>T (p.Lys593Ter) c.*1491A>T (n.*1491A>T) c.1594A>T (p.Lys532Ter) c.*77A>T (n.*77A>T) c.*1601A>T (n.*1601A>T) c.1351A>T (p.Lys451Ter) c.1402-10882A>T (n.1402-10882A>T) c.1687A>T (p.Lys563Ter) c.1867A>T (p.Lys623Ter) c.1534A>T (p.Lys512Ter) | |
7 | g.117591946del | CA2684619352 | CFTR | c.1779del (p.Lys593AsnfsTer2) c.*1493del (n.*1493del) c.1596del (p.Lys532AsnfsTer2) c.*79del (n.*79del) c.*1603del (n.*1603del) c.1353del (p.Lys451AsnfsTer2) c.1402-10880del (n.1402-10880del) c.1689del (p.Lys563AsnfsTer2) c.1869del (p.Lys623AsnfsTer2) c.1536del (p.Lys512AsnfsTer2) | gnomAD v4 |
7 | g.117591945_117591946del | CA2580076494 | CFTR | c.1778_1779del (p.Lys593ThrfsTer4) c.*1492_*1493del (n.*1492_*1493del) c.1595_1596del (p.Lys532ThrfsTer4) c.*78_*79del (n.*78_*79del) c.*1602_*1603del (n.*1602_*1603del) c.1352_1353del (p.Lys451ThrfsTer4) c.1402-10881_1402-10880del (n.1402-10881_1402-10880del) c.1688_1689del (p.Lys563ThrfsTer4) c.1868_1869del (p.Lys623ThrfsTer4) c.1535_1536del (p.Lys512ThrfsTer4) | ClinVar |
7 | g.117591945A>C | CA368977780 | CFTR | c.1778A>C (p.Lys593Thr) c.*1492A>C (n.*1492A>C) c.1595A>C (p.Lys532Thr) c.*78A>C (n.*78A>C) c.*1602A>C (n.*1602A>C) c.1352A>C (p.Lys451Thr) c.1402-10881A>C (n.1402-10881A>C) c.1688A>C (p.Lys563Thr) c.1868A>C (p.Lys623Thr) c.1535A>C (p.Lys512Thr) | |
7 | g.117591945A>G | CA368977781 | CFTR | c.1778A>G (p.Lys593Arg) c.*1492A>G (n.*1492A>G) c.1595A>G (p.Lys532Arg) c.*78A>G (n.*78A>G) c.*1602A>G (n.*1602A>G) c.1352A>G (p.Lys451Arg) c.1402-10881A>G (n.1402-10881A>G) c.1688A>G (p.Lys563Arg) c.1868A>G (p.Lys623Arg) c.1535A>G (p.Lys512Arg) | |
7 | g.117591945A>T | CA368977783 | CFTR | c.1778A>T (p.Lys593Ile) c.*1492A>T (n.*1492A>T) c.1595A>T (p.Lys532Ile) c.*78A>T (n.*78A>T) c.*1602A>T (n.*1602A>T) c.1352A>T (p.Lys451Ile) c.1402-10881A>T (n.1402-10881A>T) c.1688A>T (p.Lys563Ile) c.1868A>T (p.Lys623Ile) c.1535A>T (p.Lys512Ile) | |
7 | g.117591946A= | CA1737393786 | CFTR | c.1779A= (p.Lys593=) c.*1493A= (n.*1493A=) c.1596A= (p.Lys532=) c.*79A= (n.*79A=) c.*1603A= (n.*1603A=) c.1353A= (p.Lys451=) c.1402-10880A= (n.1402-10880A=) c.1689A= (p.Lys563=) c.1869A= (p.Lys623=) c.1536A= (p.Lys512=) | |
7 | g.117591946A>C | CA368977786 | CFTR | c.1779A>C (p.Lys593Asn) c.*1493A>C (n.*1493A>C) c.1596A>C (p.Lys532Asn) c.*79A>C (n.*79A>C) c.*1603A>C (n.*1603A>C) c.1353A>C (p.Lys451Asn) c.1402-10880A>C (n.1402-10880A>C) c.1689A>C (p.Lys563Asn) c.1869A>C (p.Lys623Asn) c.1536A>C (p.Lys512Asn) | |
7 | g.117591946A>G | CA457448811 | CFTR | c.1779A>G (p.Lys593=) c.*1493A>G (n.*1493A>G) c.1596A>G (p.Lys532=) c.*79A>G (n.*79A>G) c.*1603A>G (n.*1603A>G) c.1353A>G (p.Lys451=) c.1402-10880A>G (n.1402-10880A>G) c.1689A>G (p.Lys563=) c.1869A>G (p.Lys623=) c.1536A>G (p.Lys512=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117591946A>T | CA368977788 | CFTR | c.1779A>T (p.Lys593Asn) c.*1493A>T (n.*1493A>T) c.1596A>T (p.Lys532Asn) c.*79A>T (n.*79A>T) c.*1603A>T (n.*1603A>T) c.1353A>T (p.Lys451Asn) c.1402-10880A>T (n.1402-10880A>T) c.1689A>T (p.Lys563Asn) c.1869A>T (p.Lys623Asn) c.1536A>T (p.Lys512Asn) | |
7 | g.117591947C>A | CA368977789 | CFTR | c.1780C>A (p.Leu594Met) c.*1494C>A (n.*1494C>A) c.1597C>A (p.Leu533Met) c.*80C>A (n.*80C>A) c.*1604C>A (n.*1604C>A) c.1354C>A (p.Leu452Met) c.1402-10879C>A (n.1402-10879C>A) c.1690C>A (p.Leu564Met) c.1870C>A (p.Leu624Met) c.1537C>A (p.Leu513Met) | gnomAD v4 |
7 | g.117591947C>G | CA368977790 | CFTR | c.1780C>G (p.Leu594Val) c.*1494C>G (n.*1494C>G) c.1597C>G (p.Leu533Val) c.*80C>G (n.*80C>G) c.*1604C>G (n.*1604C>G) c.1354C>G (p.Leu452Val) c.1402-10879C>G (n.1402-10879C>G) c.1690C>G (p.Leu564Val) c.1870C>G (p.Leu624Val) c.1537C>G (p.Leu513Val) | |
7 | g.117591947C>T | CA457448812 | CFTR | c.1780C>T (p.Leu594=) c.*1494C>T (n.*1494C>T) c.1597C>T (p.Leu533=) c.*80C>T (n.*80C>T) c.*1604C>T (n.*1604C>T) c.1354C>T (p.Leu452=) c.1402-10879C>T (n.1402-10879C>T) c.1690C>T (p.Leu564=) c.1870C>T (p.Leu624=) c.1537C>T (p.Leu513=) | ClinVar |
7 | g.117591948T>A | CA368977792 | CFTR | c.1781T>A (p.Leu594Gln) c.*1495T>A (n.*1495T>A) c.1598T>A (p.Leu533Gln) c.*81T>A (n.*81T>A) c.*1605T>A (n.*1605T>A) c.1355T>A (p.Leu452Gln) c.1402-10878T>A (n.1402-10878T>A) c.1691T>A (p.Leu564Gln) c.1871T>A (p.Leu624Gln) c.1538T>A (p.Leu513Gln) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117591948T>C | CA368977794 | CFTR | c.1781T>C (p.Leu594Pro) c.*1495T>C (n.*1495T>C) c.1598T>C (p.Leu533Pro) c.*81T>C (n.*81T>C) c.*1605T>C (n.*1605T>C) c.1355T>C (p.Leu452Pro) c.1402-10878T>C (n.1402-10878T>C) c.1691T>C (p.Leu564Pro) c.1871T>C (p.Leu624Pro) c.1538T>C (p.Leu513Pro) | ClinVar dbSNP gnomAD v4 |
7 | g.117591948T>G | CA368977796 | CFTR | c.1781T>G (p.Leu594Arg) c.*1495T>G (n.*1495T>G) c.1598T>G (p.Leu533Arg) c.*81T>G (n.*81T>G) c.*1605T>G (n.*1605T>G) c.1355T>G (p.Leu452Arg) c.1402-10878T>G (n.1402-10878T>G) c.1691T>G (p.Leu564Arg) c.1871T>G (p.Leu624Arg) c.1538T>G (p.Leu513Arg) | |
7 | g.117591948T= | CA1737393791 | CFTR | c.1781T= (p.Leu594=) c.*1495T= (n.*1495T=) c.1598T= (p.Leu533=) c.*81T= (n.*81T=) c.*1605T= (n.*1605T=) c.1355T= (p.Leu452=) c.1402-10878T= (n.1402-10878T=) c.1691T= (p.Leu564=) c.1871T= (p.Leu624=) c.1538T= (p.Leu513=) | |
7 | g.117591949G>A | CA457448813 | CFTR | c.1782G>A (p.Leu594=) c.*1496G>A (n.*1496G>A) c.1599G>A (p.Leu533=) c.*82G>A (n.*82G>A) c.*1606G>A (n.*1606G>A) c.1356G>A (p.Leu452=) c.1402-10877G>A (n.1402-10877G>A) c.1692G>A (p.Leu564=) c.1872G>A (p.Leu624=) c.1539G>A (p.Leu513=) | gnomAD v4 |
7 | g.117591949G>C | CA457448815 | CFTR | c.1782G>C (p.Leu594=) c.*1496G>C (n.*1496G>C) c.1599G>C (p.Leu533=) c.*82G>C (n.*82G>C) c.*1606G>C (n.*1606G>C) c.1356G>C (p.Leu452=) c.1402-10877G>C (n.1402-10877G>C) c.1692G>C (p.Leu564=) c.1872G>C (p.Leu624=) c.1539G>C (p.Leu513=) | |
7 | g.117591949G>T | CA457448814 | CFTR | c.1782G>T (p.Leu594=) c.*1496G>T (n.*1496G>T) c.1599G>T (p.Leu533=) c.*82G>T (n.*82G>T) c.*1606G>T (n.*1606G>T) c.1356G>T (p.Leu452=) c.1402-10877G>T (n.1402-10877G>T) c.1692G>T (p.Leu564=) c.1872G>T (p.Leu624=) c.1539G>T (p.Leu513=) | ClinVar dbSNP gnomAD v4 |
7 | g.117591950A= | CA1737393795 | CFTR | c.1783A= (p.Met595=) c.*1497A= (n.*1497A=) c.1600A= (p.Met534=) c.*83A= (n.*83A=) c.*1607A= (n.*1607A=) c.1357A= (p.Met453=) c.1402-10876A= (n.1402-10876A=) c.1693A= (p.Met565=) c.1873A= (p.Met625=) c.1540A= (p.Met514=) | |
7 | g.117591950A>C | CA368977803 | CFTR | c.1783A>C (p.Met595Leu) c.*1497A>C (n.*1497A>C) c.1600A>C (p.Met534Leu) c.*83A>C (n.*83A>C) c.*1607A>C (n.*1607A>C) c.1357A>C (p.Met453Leu) c.1402-10876A>C (n.1402-10876A>C) c.1693A>C (p.Met565Leu) c.1873A>C (p.Met625Leu) c.1540A>C (p.Met514Leu) | |
7 | g.117591950A>G | CA4451094 | CFTR | c.1783A>G (p.Met595Val) c.*1497A>G (n.*1497A>G) c.1600A>G (p.Met534Val) c.*83A>G (n.*83A>G) c.*1607A>G (n.*1607A>G) c.1357A>G (p.Met453Val) c.1402-10876A>G (n.1402-10876A>G) c.1693A>G (p.Met565Val) c.1873A>G (p.Met625Val) c.1540A>G (p.Met514Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117591950A>T | CA4451095 | CFTR | c.1783A>T (p.Met595Leu) c.*1497A>T (n.*1497A>T) c.1600A>T (p.Met534Leu) c.*83A>T (n.*83A>T) c.*1607A>T (n.*1607A>T) c.1357A>T (p.Met453Leu) c.1402-10876A>T (n.1402-10876A>T) c.1693A>T (p.Met565Leu) c.1873A>T (p.Met625Leu) c.1540A>T (p.Met514Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117591951T>A | CA368977805 | CFTR | c.1784T>A (p.Met595Lys) c.*1498T>A (n.*1498T>A) c.1601T>A (p.Met534Lys) c.*84T>A (n.*84T>A) c.*1608T>A (n.*1608T>A) c.1358T>A (p.Met453Lys) c.1402-10875T>A (n.1402-10875T>A) c.1694T>A (p.Met565Lys) c.1874T>A (p.Met625Lys) c.1541T>A (p.Met514Lys) | |
7 | g.117591951T>C | CA368977810 | CFTR | c.1784T>C (p.Met595Thr) c.*1498T>C (n.*1498T>C) c.1601T>C (p.Met534Thr) c.*84T>C (n.*84T>C) c.*1608T>C (n.*1608T>C) c.1358T>C (p.Met453Thr) c.1402-10875T>C (n.1402-10875T>C) c.1694T>C (p.Met565Thr) c.1874T>C (p.Met625Thr) c.1541T>C (p.Met514Thr) | |
7 | g.117591951T>G | CA368977806 | CFTR | c.1784T>G (p.Met595Arg) c.*1498T>G (n.*1498T>G) c.1601T>G (p.Met534Arg) c.*84T>G (n.*84T>G) c.*1608T>G (n.*1608T>G) c.1358T>G (p.Met453Arg) c.1402-10875T>G (n.1402-10875T>G) c.1694T>G (p.Met565Arg) c.1874T>G (p.Met625Arg) c.1541T>G (p.Met514Arg) | |
7 | g.117591952G>A | CA368977815 | CFTR | c.1785G>A (p.Met595Ile) c.*1499G>A (n.*1499G>A) c.1602G>A (p.Met534Ile) c.*85G>A (n.*85G>A) c.*1609G>A (n.*1609G>A) c.1359G>A (p.Met453Ile) c.1402-10874G>A (n.1402-10874G>A) c.1695G>A (p.Met565Ile) c.1875G>A (p.Met625Ile) c.1542G>A (p.Met514Ile) | |
7 | g.117591952G>C | CA368977819 | CFTR | c.1785G>C (p.Met595Ile) c.*1499G>C (n.*1499G>C) c.1602G>C (p.Met534Ile) c.*85G>C (n.*85G>C) c.*1609G>C (n.*1609G>C) c.1359G>C (p.Met453Ile) c.1402-10874G>C (n.1402-10874G>C) c.1695G>C (p.Met565Ile) c.1875G>C (p.Met625Ile) c.1542G>C (p.Met514Ile) | |
7 | g.117591952G= | CA1737393801 | CFTR | c.1785G= (p.Met595=) c.*1499G= (n.*1499G=) c.1602G= (p.Met534=) c.*85G= (n.*85G=) c.*1609G= (n.*1609G=) c.1359G= (p.Met453=) c.1402-10874G= (n.1402-10874G=) c.1695G= (p.Met565=) c.1875G= (p.Met625=) c.1542G= (p.Met514=) | |
7 | g.117591952G>T | CA368977828 | CFTR | c.1785G>T (p.Met595Ile) c.*1499G>T (n.*1499G>T) c.1602G>T (p.Met534Ile) c.*85G>T (n.*85G>T) c.*1609G>T (n.*1609G>T) c.1359G>T (p.Met453Ile) c.1402-10874G>T (n.1402-10874G>T) c.1695G>T (p.Met565Ile) c.1875G>T (p.Met625Ile) c.1542G>T (p.Met514Ile) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117591952_117591954delinsGGC | CA1737393799 | CFTR | c.1785_1787delinsGGC (p.Met595=) c.*1499_*1501delinsGGC (n.*1499_*1501delinsGGC) c.1602_1604delinsGGC (p.Met534=) c.*85_*87delinsGGC (n.*85_*87delinsGGC) c.*1609_*1611delinsGGC (n.*1609_*1611delinsGGC) c.1359_1361delinsGGC (p.Met453=) c.1402-10874_1402-10872delinsGGC (n.1402-10874_1402-10872delinsGGC) c.1695_1697delinsGGC (p.Met565=) c.1875_1877delinsGGC (p.Met625=) c.1542_1544delinsGGC (p.Met514=) | |
7 | g.117591953G>A | CA368977832 | CFTR | c.1786G>A (p.Ala596Thr) c.*1500G>A (n.*1500G>A) c.1603G>A (p.Ala535Thr) c.*86G>A (n.*86G>A) c.*1610G>A (n.*1610G>A) c.1360G>A (p.Ala454Thr) c.1402-10873G>A (n.1402-10873G>A) c.1696G>A (p.Ala566Thr) c.1876G>A (p.Ala626Thr) c.1543G>A (p.Ala515Thr) | |
7 | g.117591953G>C | CA368977833 | CFTR | c.1786G>C (p.Ala596Pro) c.*1500G>C (n.*1500G>C) c.1603G>C (p.Ala535Pro) c.*86G>C (n.*86G>C) c.*1610G>C (n.*1610G>C) c.1360G>C (p.Ala454Pro) c.1402-10873G>C (n.1402-10873G>C) c.1696G>C (p.Ala566Pro) c.1876G>C (p.Ala626Pro) c.1543G>C (p.Ala515Pro) | |
7 | g.117591953G>T | CA368977834 | CFTR | c.1786G>T (p.Ala596Ser) c.*1500G>T (n.*1500G>T) c.1603G>T (p.Ala535Ser) c.*86G>T (n.*86G>T) c.*1610G>T (n.*1610G>T) c.1360G>T (p.Ala454Ser) c.1402-10873G>T (n.1402-10873G>T) c.1696G>T (p.Ala566Ser) c.1876G>T (p.Ala626Ser) c.1543G>T (p.Ala515Ser) | gnomAD v4 |
7 | g.117591953_117591954del | CA326671 | CFTR | c.1786_1787del (p.Ala596Ter) c.*1500_*1501del (n.*1500_*1501del) c.1603_1604del (p.Ala535Ter) c.*86_*87del (n.*86_*87del) c.*1610_*1611del (n.*1610_*1611del) c.1360_1361del (p.Ala454Ter) c.1402-10873_1402-10872del (n.1402-10873_1402-10872del) c.1696_1697del (p.Ala566Ter) c.1876_1877del (p.Ala626Ter) c.1543_1544del (p.Ala515Ter) | ClinVar dbSNP |
7 | g.117591954C>A | CA164947374 | CFTR | c.1787C>A (p.Ala596Asp) c.*1501C>A (n.*1501C>A) c.1604C>A (p.Ala535Asp) c.*87C>A (n.*87C>A) c.*1611C>A (n.*1611C>A) c.1361C>A (p.Ala454Asp) c.1402-10872C>A (n.1402-10872C>A) c.1697C>A (p.Ala566Asp) c.1877C>A (p.Ala626Asp) c.1544C>A (p.Ala515Asp) | dbSNP gnomAD v4 COSMIC |
7 | g.117591954C= | CA1737393812 | CFTR | c.1787C= (p.Ala596=) c.*1501C= (n.*1501C=) c.1604C= (p.Ala535=) c.*87C= (n.*87C=) c.*1611C= (n.*1611C=) c.1361C= (p.Ala454=) c.1402-10872C= (n.1402-10872C=) c.1697C= (p.Ala566=) c.1877C= (p.Ala626=) c.1544C= (p.Ala515=) | |
7 | g.117591954C>G | CA368977843 | CFTR | c.1787C>G (p.Ala596Gly) c.*1501C>G (n.*1501C>G) c.1604C>G (p.Ala535Gly) c.*87C>G (n.*87C>G) c.*1611C>G (n.*1611C>G) c.1361C>G (p.Ala454Gly) c.1402-10872C>G (n.1402-10872C>G) c.1697C>G (p.Ala566Gly) c.1877C>G (p.Ala626Gly) c.1544C>G (p.Ala515Gly) | |
7 | g.117591954C>T | CA368977846 | CFTR | c.1787C>T (p.Ala596Val) c.*1501C>T (n.*1501C>T) c.1604C>T (p.Ala535Val) c.*87C>T (n.*87C>T) c.*1611C>T (n.*1611C>T) c.1361C>T (p.Ala454Val) c.1402-10872C>T (n.1402-10872C>T) c.1697C>T (p.Ala566Val) c.1877C>T (p.Ala626Val) c.1544C>T (p.Ala515Val) | |
7 | g.117591955T>A | CA457448816 | CFTR | c.1788T>A (p.Ala596=) c.*1502T>A (n.*1502T>A) c.1605T>A (p.Ala535=) c.*88T>A (n.*88T>A) c.*1612T>A (n.*1612T>A) c.1362T>A (p.Ala454=) c.1402-10871T>A (n.1402-10871T>A) c.1698T>A (p.Ala566=) c.1878T>A (p.Ala626=) c.1545T>A (p.Ala515=) | |
7 | g.117591955T>C | CA457448817 | CFTR | c.1788T>C (p.Ala596=) c.*1502T>C (n.*1502T>C) c.1605T>C (p.Ala535=) c.*88T>C (n.*88T>C) c.*1612T>C (n.*1612T>C) c.1362T>C (p.Ala454=) c.1402-10871T>C (n.1402-10871T>C) c.1698T>C (p.Ala566=) c.1878T>C (p.Ala626=) c.1545T>C (p.Ala515=) | gnomAD v4 |
7 | g.117591955T>G | CA457448818 | CFTR | c.1788T>G (p.Ala596=) c.*1502T>G (n.*1502T>G) c.1605T>G (p.Ala535=) c.*88T>G (n.*88T>G) c.*1612T>G (n.*1612T>G) c.1362T>G (p.Ala454=) c.1402-10871T>G (n.1402-10871T>G) c.1698T>G (p.Ala566=) c.1878T>G (p.Ala626=) c.1545T>G (p.Ala515=) | |
7 | g.117591956A= | CA1737393817 | CFTR | c.1789A= (p.Asn597=) c.*1503A= (n.*1503A=) c.1606A= (p.Asn536=) c.*89A= (n.*89A=) c.*1613A= (n.*1613A=) c.1363A= (p.Asn455=) c.1402-10870A= (n.1402-10870A=) c.1699A= (p.Asn567=) c.1879A= (p.Asn627=) c.1546A= (p.Asn516=) | |
7 | g.117591956A>C | CA368977850 | CFTR | c.1789A>C (p.Asn597His) c.*1503A>C (n.*1503A>C) c.1606A>C (p.Asn536His) c.*89A>C (n.*89A>C) c.*1613A>C (n.*1613A>C) c.1363A>C (p.Asn455His) c.1402-10870A>C (n.1402-10870A>C) c.1699A>C (p.Asn567His) c.1879A>C (p.Asn627His) c.1546A>C (p.Asn516His) | |
7 | g.117591956A>G | CA368977851 | CFTR | c.1789A>G (p.Asn597Asp) c.*1503A>G (n.*1503A>G) c.1606A>G (p.Asn536Asp) c.*89A>G (n.*89A>G) c.*1613A>G (n.*1613A>G) c.1363A>G (p.Asn455Asp) c.1402-10870A>G (n.1402-10870A>G) c.1699A>G (p.Asn567Asp) c.1879A>G (p.Asn627Asp) c.1546A>G (p.Asn516Asp) | ClinVar dbSNP |
7 | g.117591956A>T | CA164947375 | CFTR | c.1789A>T (p.Asn597Tyr) c.*1503A>T (n.*1503A>T) c.1606A>T (p.Asn536Tyr) c.*89A>T (n.*89A>T) c.*1613A>T (n.*1613A>T) c.1363A>T (p.Asn455Tyr) c.1402-10870A>T (n.1402-10870A>T) c.1699A>T (p.Asn567Tyr) c.1879A>T (p.Asn627Tyr) c.1546A>T (p.Asn516Tyr) | dbSNP COSMIC |
7 | g.117591957A= | CA1737393820 | CFTR | c.1790A= (p.Asn597=) c.*1504A= (n.*1504A=) c.1607A= (p.Asn536=) c.*90A= (n.*90A=) c.*1614A= (n.*1614A=) c.1364A= (p.Asn455=) c.1402-10869A= (n.1402-10869A=) c.1700A= (p.Asn567=) c.1880A= (p.Asn627=) c.1547A= (p.Asn516=) | |
7 | g.117591957A>C | CA4451096 | CFTR | c.1790A>C (p.Asn597Thr) c.*1504A>C (n.*1504A>C) c.1607A>C (p.Asn536Thr) c.*90A>C (n.*90A>C) c.*1614A>C (n.*1614A>C) c.1364A>C (p.Asn455Thr) c.1402-10869A>C (n.1402-10869A>C) c.1700A>C (p.Asn567Thr) c.1880A>C (p.Asn627Thr) c.1547A>C (p.Asn516Thr) | dbSNP ExAC gnomAD v4 |
7 | g.117591957A>G | CA368977859 | CFTR | c.1790A>G (p.Asn597Ser) c.*1504A>G (n.*1504A>G) c.1607A>G (p.Asn536Ser) c.*90A>G (n.*90A>G) c.*1614A>G (n.*1614A>G) c.1364A>G (p.Asn455Ser) c.1402-10869A>G (n.1402-10869A>G) c.1700A>G (p.Asn567Ser) c.1880A>G (p.Asn627Ser) c.1547A>G (p.Asn516Ser) | |
7 | g.117591957A>T | CA368977856 | CFTR | c.1790A>T (p.Asn597Ile) c.*1504A>T (n.*1504A>T) c.1607A>T (p.Asn536Ile) c.*90A>T (n.*90A>T) c.*1614A>T (n.*1614A>T) c.1364A>T (p.Asn455Ile) c.1402-10869A>T (n.1402-10869A>T) c.1700A>T (p.Asn567Ile) c.1880A>T (p.Asn627Ile) c.1547A>T (p.Asn516Ile) | |
7 | g.117591958C>A | CA368977864 | CFTR | c.1791C>A (p.Asn597Lys) c.*1505C>A (n.*1505C>A) c.1608C>A (p.Asn536Lys) c.*91C>A (n.*91C>A) c.*1615C>A (n.*1615C>A) c.1365C>A (p.Asn455Lys) c.1402-10868C>A (n.1402-10868C>A) c.1701C>A (p.Asn567Lys) c.1881C>A (p.Asn627Lys) c.1548C>A (p.Asn516Lys) | COSMIC |
7 | g.117591958C= | CA1737393828 | CFTR | c.1791C= (p.Asn597=) c.*1505C= (n.*1505C=) c.1608C= (p.Asn536=) c.*91C= (n.*91C=) c.*1615C= (n.*1615C=) c.1365C= (p.Asn455=) c.1402-10868C= (n.1402-10868C=) c.1701C= (p.Asn567=) c.1881C= (p.Asn627=) c.1548C= (p.Asn516=) | |
7 | g.117591958C>G | CA4451097 | CFTR | c.1791C>G (p.Asn597Lys) c.*1505C>G (n.*1505C>G) c.1608C>G (p.Asn536Lys) c.*91C>G (n.*91C>G) c.*1615C>G (n.*1615C>G) c.1365C>G (p.Asn455Lys) c.1402-10868C>G (n.1402-10868C>G) c.1701C>G (p.Asn567Lys) c.1881C>G (p.Asn627Lys) c.1548C>G (p.Asn516Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117591958C>T | CA164947383 | CFTR | c.1791C>T (p.Asn597=) c.*1505C>T (n.*1505C>T) c.1608C>T (p.Asn536=) c.*91C>T (n.*91C>T) c.*1615C>T (n.*1615C>T) c.1365C>T (p.Asn455=) c.1402-10868C>T (n.1402-10868C>T) c.1701C>T (p.Asn567=) c.1881C>T (p.Asn627=) c.1548C>T (p.Asn516=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117591958_117591965delinsCAAAACTA | CA1737393826 | CFTR | c.1791_1798delinsCAAAACTA (p.Asn597=) c.*1505_*1512delinsCAAAACTA (n.*1505_*1512delinsCAAAACTA) c.1608_1615delinsCAAAACTA (p.Asn536=) c.*91_*98delinsCAAAACTA (n.*91_*98delinsCAAAACTA) c.*1615_*1622delinsCAAAACTA (n.*1615_*1622delinsCAAAACTA) c.1365_1372delinsCAAAACTA (p.Asn455=) c.1402-10868_1402-10861delinsCAAAACTA (n.1402-10868_1402-10861delinsCAAAACTA) c.1701_1708delinsCAAAACTA (p.Asn567=) c.1881_1888delinsCAAAACTA (p.Asn627=) c.1548_1555delinsCAAAACTA (p.Asn516=) | |
7 | g.117591959A= | CA1737393841 | CFTR | c.1792A= (p.Lys598=) c.*1506A= (n.*1506A=) c.1609A= (p.Lys537=) c.*92A= (n.*92A=) c.*1616A= (n.*1616A=) c.1366A= (p.Lys456=) c.1402-10867A= (n.1402-10867A=) c.1702A= (p.Lys568=) c.1882A= (p.Lys628=) c.1549A= (p.Lys517=) | |
7 | g.117591959A>C | CA368977871 | CFTR | c.1792A>C (p.Lys598Gln) c.*1506A>C (n.*1506A>C) c.1609A>C (p.Lys537Gln) c.*92A>C (n.*92A>C) c.*1616A>C (n.*1616A>C) c.1366A>C (p.Lys456Gln) c.1402-10867A>C (n.1402-10867A>C) c.1702A>C (p.Lys568Gln) c.1882A>C (p.Lys628Gln) c.1549A>C (p.Lys517Gln) | gnomAD v4 |
7 | g.117591959A>G | CA368977872 | CFTR | c.1792A>G (p.Lys598Glu) c.*1506A>G (n.*1506A>G) c.1609A>G (p.Lys537Glu) c.*92A>G (n.*92A>G) c.*1616A>G (n.*1616A>G) c.1366A>G (p.Lys456Glu) c.1402-10867A>G (n.1402-10867A>G) c.1702A>G (p.Lys568Glu) c.1882A>G (p.Lys628Glu) c.1549A>G (p.Lys517Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117591959A>T | CA326674 | CFTR | c.1792A>T (p.Lys598Ter) c.*1506A>T (n.*1506A>T) c.1609A>T (p.Lys537Ter) c.*92A>T (n.*92A>T) c.*1616A>T (n.*1616A>T) c.1366A>T (p.Lys456Ter) c.1402-10867A>T (n.1402-10867A>T) c.1702A>T (p.Lys568Ter) c.1882A>T (p.Lys628Ter) c.1549A>T (p.Lys517Ter) | ClinVar dbSNP |
7 | g.117591962dup | CA2695208501 | CFTR | c.1795dup (p.Thr599AsnfsTer2) c.*1509dup (n.*1509dup) c.1612dup (p.Thr538AsnfsTer2) c.*95dup (n.*95dup) c.*1619dup (n.*1619dup) c.1369dup (p.Thr457AsnfsTer2) c.1402-10864dup (n.1402-10864dup) c.1705dup (p.Thr569AsnfsTer2) c.1885dup (p.Thr629AsnfsTer2) c.1552dup (p.Thr518AsnfsTer2) | |
7 | g.117591960_117591962dup | CA2695208500 | CFTR | c.1793_1795dup (p.Lys598_Thr599insLys) c.*1507_*1509dup (n.*1507_*1509dup) c.1610_1612dup (p.Lys537_Thr538insLys) c.*93_*95dup (n.*93_*95dup) c.*1617_*1619dup (n.*1617_*1619dup) c.1367_1369dup (p.Lys456_Thr457insLys) c.1402-10866_1402-10864dup (n.1402-10866_1402-10864dup) c.1703_1705dup (p.Lys568_Thr569insLys) c.1883_1885dup (p.Lys628_Thr629insLys) c.1550_1552dup (p.Lys517_Thr518insLys) | |
7 | g.117591959_117591965del | CA326676 | CFTR | c.1792_1798del (p.Lys598GlyfsTer11) c.*1506_*1512del (n.*1506_*1512del) c.1609_1615del (p.Lys537GlyfsTer11) c.*92_*98del (n.*92_*98del) c.*1616_*1622del (n.*1616_*1622del) c.1366_1372del (p.Lys456GlyfsTer11) c.1402-10867_1402-10861del (n.1402-10867_1402-10861del) c.1702_1708del (p.Lys568GlyfsTer11) c.1882_1888del (p.Lys628GlyfsTer11) c.1549_1555del (p.Lys517GlyfsTer11) | ClinVar dbSNP |
7 | g.117591960A>C | CA368977876 | CFTR | c.1793A>C (p.Lys598Thr) c.*1507A>C (n.*1507A>C) c.1610A>C (p.Lys537Thr) c.*93A>C (n.*93A>C) c.*1617A>C (n.*1617A>C) c.1367A>C (p.Lys456Thr) c.1402-10866A>C (n.1402-10866A>C) c.1703A>C (p.Lys568Thr) c.1883A>C (p.Lys628Thr) c.1550A>C (p.Lys517Thr) | |
7 | g.117591960A>G | CA368977879 | CFTR | c.1793A>G (p.Lys598Arg) c.*1507A>G (n.*1507A>G) c.1610A>G (p.Lys537Arg) c.*93A>G (n.*93A>G) c.*1617A>G (n.*1617A>G) c.1367A>G (p.Lys456Arg) c.1402-10866A>G (n.1402-10866A>G) c.1703A>G (p.Lys568Arg) c.1883A>G (p.Lys628Arg) c.1550A>G (p.Lys517Arg) | |
7 | g.117591960A>T | CA368977882 | CFTR | c.1793A>T (p.Lys598Ile) c.*1507A>T (n.*1507A>T) c.1610A>T (p.Lys537Ile) c.*93A>T (n.*93A>T) c.*1617A>T (n.*1617A>T) c.1367A>T (p.Lys456Ile) c.1402-10866A>T (n.1402-10866A>T) c.1703A>T (p.Lys568Ile) c.1883A>T (p.Lys628Ile) c.1550A>T (p.Lys517Ile) | |
7 | g.117591961A>C | CA368977888 | CFTR | c.1794A>C (p.Lys598Asn) c.*1508A>C (n.*1508A>C) c.1611A>C (p.Lys537Asn) c.*94A>C (n.*94A>C) c.*1618A>C (n.*1618A>C) c.1368A>C (p.Lys456Asn) c.1402-10865A>C (n.1402-10865A>C) c.1704A>C (p.Lys568Asn) c.1884A>C (p.Lys628Asn) c.1551A>C (p.Lys517Asn) | |
7 | g.117591961A>G | CA457448819 | CFTR | c.1794A>G (p.Lys598=) c.*1508A>G (n.*1508A>G) c.1611A>G (p.Lys537=) c.*94A>G (n.*94A>G) c.*1618A>G (n.*1618A>G) c.1368A>G (p.Lys456=) c.1402-10865A>G (n.1402-10865A>G) c.1704A>G (p.Lys568=) c.1884A>G (p.Lys628=) c.1551A>G (p.Lys517=) | |
7 | g.117591961A>T | CA368977892 | CFTR | c.1794A>T (p.Lys598Asn) c.*1508A>T (n.*1508A>T) c.1611A>T (p.Lys537Asn) c.*94A>T (n.*94A>T) c.*1618A>T (n.*1618A>T) c.1368A>T (p.Lys456Asn) c.1402-10865A>T (n.1402-10865A>T) c.1704A>T (p.Lys568Asn) c.1884A>T (p.Lys628Asn) c.1551A>T (p.Lys517Asn) | |
7 | g.117591962A>C | CA368977897 | CFTR | c.1795A>C (p.Thr599Pro) c.*1509A>C (n.*1509A>C) c.1612A>C (p.Thr538Pro) c.*95A>C (n.*95A>C) c.*1619A>C (n.*1619A>C) c.1369A>C (p.Thr457Pro) c.1402-10864A>C (n.1402-10864A>C) c.1705A>C (p.Thr569Pro) c.1885A>C (p.Thr629Pro) c.1552A>C (p.Thr518Pro) | gnomAD v4 |
7 | g.117591962A>G | CA368977901 | CFTR | c.1795A>G (p.Thr599Ala) c.*1509A>G (n.*1509A>G) c.1612A>G (p.Thr538Ala) c.*95A>G (n.*95A>G) c.*1619A>G (n.*1619A>G) c.1369A>G (p.Thr457Ala) c.1402-10864A>G (n.1402-10864A>G) c.1705A>G (p.Thr569Ala) c.1885A>G (p.Thr629Ala) c.1552A>G (p.Thr518Ala) | |
7 | g.117591962A>T | CA368977904 | CFTR | c.1795A>T (p.Thr599Ser) c.*1509A>T (n.*1509A>T) c.1612A>T (p.Thr538Ser) c.*95A>T (n.*95A>T) c.*1619A>T (n.*1619A>T) c.1369A>T (p.Thr457Ser) c.1402-10864A>T (n.1402-10864A>T) c.1705A>T (p.Thr569Ser) c.1885A>T (p.Thr629Ser) c.1552A>T (p.Thr518Ser) | |
7 | g.117591963C>A | CA368977908 | CFTR | c.1796C>A (p.Thr599Asn) c.*1510C>A (n.*1510C>A) c.1613C>A (p.Thr538Asn) c.*96C>A (n.*96C>A) c.*1620C>A (n.*1620C>A) c.1370C>A (p.Thr457Asn) c.1402-10863C>A (n.1402-10863C>A) c.1706C>A (p.Thr569Asn) c.1886C>A (p.Thr629Asn) c.1553C>A (p.Thr518Asn) | |
7 | g.117591963C= | CA1737393845 | CFTR | c.1796C= (p.Thr599=) c.*1510C= (n.*1510C=) c.1613C= (p.Thr538=) c.*96C= (n.*96C=) c.*1620C= (n.*1620C=) c.1370C= (p.Thr457=) c.1402-10863C= (n.1402-10863C=) c.1706C= (p.Thr569=) c.1886C= (p.Thr629=) c.1553C= (p.Thr518=) | |
7 | g.117591963C>G | CA4451098 | CFTR | c.1796C>G (p.Thr599Ser) c.*1510C>G (n.*1510C>G) c.1613C>G (p.Thr538Ser) c.*96C>G (n.*96C>G) c.*1620C>G (n.*1620C>G) c.1370C>G (p.Thr457Ser) c.1402-10863C>G (n.1402-10863C>G) c.1706C>G (p.Thr569Ser) c.1886C>G (p.Thr629Ser) c.1553C>G (p.Thr518Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117591963C>T | CA368977912 | CFTR | c.1796C>T (p.Thr599Ile) c.*1510C>T (n.*1510C>T) c.1613C>T (p.Thr538Ile) c.*96C>T (n.*96C>T) c.*1620C>T (n.*1620C>T) c.1370C>T (p.Thr457Ile) c.1402-10863C>T (n.1402-10863C>T) c.1706C>T (p.Thr569Ile) c.1886C>T (p.Thr629Ile) c.1553C>T (p.Thr518Ile) | |
7 | g.117591964T>A | CA326677 | CFTR | c.1797T>A (p.Thr599=) c.*1511T>A (n.*1511T>A) c.1614T>A (p.Thr538=) c.*97T>A (n.*97T>A) c.*1621T>A (n.*1621T>A) c.1371T>A (p.Thr457=) c.1402-10862T>A (n.1402-10862T>A) c.1707T>A (p.Thr569=) c.1887T>A (p.Thr629=) c.1554T>A (p.Thr518=) | dbSNP |
7 | g.117591964T>C | CA457448820 | CFTR | c.1797T>C (p.Thr599=) c.*1511T>C (n.*1511T>C) c.1614T>C (p.Thr538=) c.*97T>C (n.*97T>C) c.*1621T>C (n.*1621T>C) c.1371T>C (p.Thr457=) c.1402-10862T>C (n.1402-10862T>C) c.1707T>C (p.Thr569=) c.1887T>C (p.Thr629=) c.1554T>C (p.Thr518=) | ClinVar |
7 | g.117591964T>G | CA457448821 | CFTR | c.1797T>G (p.Thr599=) c.*1511T>G (n.*1511T>G) c.1614T>G (p.Thr538=) c.*97T>G (n.*97T>G) c.*1621T>G (n.*1621T>G) c.1371T>G (p.Thr457=) c.1402-10862T>G (n.1402-10862T>G) c.1707T>G (p.Thr569=) c.1887T>G (p.Thr629=) c.1554T>G (p.Thr518=) | |
7 | g.117591964T= | CA1737393848 | CFTR | c.1797T= (p.Thr599=) c.*1511T= (n.*1511T=) c.1614T= (p.Thr538=) c.*97T= (n.*97T=) c.*1621T= (n.*1621T=) c.1371T= (p.Thr457=) c.1402-10862T= (n.1402-10862T=) c.1707T= (p.Thr569=) c.1887T= (p.Thr629=) c.1554T= (p.Thr518=) | |
7 | g.117591965A= | CA1737393851 | CFTR | c.1798A= (p.Arg600=) c.*1512A= (n.*1512A=) c.1615A= (p.Arg539=) c.*98A= (n.*98A=) c.*1622A= (n.*1622A=) c.1372A= (p.Arg458=) c.1402-10861A= (n.1402-10861A=) c.1708A= (p.Arg570=) c.1888A= (p.Arg630=) c.1555A= (p.Arg519=) | |
7 | g.117591965A>C | CA457448822 | CFTR | c.1798A>C (p.Arg600=) c.*1512A>C (n.*1512A>C) c.1615A>C (p.Arg539=) c.*98A>C (n.*98A>C) c.*1622A>C (n.*1622A>C) c.1372A>C (p.Arg458=) c.1402-10861A>C (n.1402-10861A>C) c.1708A>C (p.Arg570=) c.1888A>C (p.Arg630=) c.1555A>C (p.Arg519=) | |
7 | g.117591965A>G | CA326679 | CFTR | c.1798A>G (p.Arg600Gly) c.*1512A>G (n.*1512A>G) c.1615A>G (p.Arg539Gly) c.*98A>G (n.*98A>G) c.*1622A>G (n.*1622A>G) c.1372A>G (p.Arg458Gly) c.1402-10861A>G (n.1402-10861A>G) c.1708A>G (p.Arg570Gly) c.1888A>G (p.Arg630Gly) c.1555A>G (p.Arg519Gly) | ClinVar dbSNP |
7 | g.117591965A>T | CA368977930 | CFTR | c.1798A>T (p.Arg600Trp) c.*1512A>T (n.*1512A>T) c.1615A>T (p.Arg539Trp) c.*98A>T (n.*98A>T) c.*1622A>T (n.*1622A>T) c.1372A>T (p.Arg458Trp) c.1402-10861A>T (n.1402-10861A>T) c.1708A>T (p.Arg570Trp) c.1888A>T (p.Arg630Trp) c.1555A>T (p.Arg519Trp) | gnomAD v4 |
7 | g.117591966G>A | CA368977936 | CFTR | c.1799G>A (p.Arg600Lys) c.*1513G>A (n.*1513G>A) c.1616G>A (p.Arg539Lys) c.*99G>A (n.*99G>A) c.*1623G>A (n.*1623G>A) c.1373G>A (p.Arg458Lys) c.1402-10860G>A (n.1402-10860G>A) c.1709G>A (p.Arg570Lys) c.1889G>A (p.Arg630Lys) c.1556G>A (p.Arg519Lys) | |
7 | g.117591966G>C | CA368977939 | CFTR | c.1799G>C (p.Arg600Thr) c.*1513G>C (n.*1513G>C) c.1616G>C (p.Arg539Thr) c.*99G>C (n.*99G>C) c.*1623G>C (n.*1623G>C) c.1373G>C (p.Arg458Thr) c.1402-10860G>C (n.1402-10860G>C) c.1709G>C (p.Arg570Thr) c.1889G>C (p.Arg630Thr) c.1556G>C (p.Arg519Thr) | |
7 | g.117591966G>T | CA368977943 | CFTR | c.1799G>T (p.Arg600Met) c.*1513G>T (n.*1513G>T) c.1616G>T (p.Arg539Met) c.*99G>T (n.*99G>T) c.*1623G>T (n.*1623G>T) c.1373G>T (p.Arg458Met) c.1402-10860G>T (n.1402-10860G>T) c.1709G>T (p.Arg570Met) c.1889G>T (p.Arg630Met) c.1556G>T (p.Arg519Met) | |
7 | g.117591967del | CA2695208502 | CFTR | c.1800del (p.Ile601PhefsTer10) c.*1514del (n.*1514del) c.1617del (p.Ile540PhefsTer10) c.*100del (n.*100del) c.*1624del (n.*1624del) c.1374del (p.Ile459PhefsTer10) c.1402-10859del (n.1402-10859del) c.1710del (p.Ile571PhefsTer10) c.1890del (p.Ile631PhefsTer10) c.1557del (p.Ile520PhefsTer10) | |
7 | g.117591967G>A | CA457448823 | CFTR | c.1800G>A (p.Arg600=) c.*1514G>A (n.*1514G>A) c.1617G>A (p.Arg539=) c.*100G>A (n.*100G>A) c.*1624G>A (n.*1624G>A) c.1374G>A (p.Arg458=) c.1402-10859G>A (n.1402-10859G>A) c.1710G>A (p.Arg570=) c.1890G>A (p.Arg630=) c.1557G>A (p.Arg519=) | COSMIC |
7 | g.117591967G>C | CA368977947 | CFTR | c.1800G>C (p.Arg600Ser) c.*1514G>C (n.*1514G>C) c.1617G>C (p.Arg539Ser) c.*100G>C (n.*100G>C) c.*1624G>C (n.*1624G>C) c.1374G>C (p.Arg458Ser) c.1402-10859G>C (n.1402-10859G>C) c.1710G>C (p.Arg570Ser) c.1890G>C (p.Arg630Ser) c.1557G>C (p.Arg519Ser) | |
7 | g.117591967G>T | CA368977948 | CFTR | c.1800G>T (p.Arg600Ser) c.*1514G>T (n.*1514G>T) c.1617G>T (p.Arg539Ser) c.*100G>T (n.*100G>T) c.*1624G>T (n.*1624G>T) c.1374G>T (p.Arg458Ser) c.1402-10859G>T (n.1402-10859G>T) c.1710G>T (p.Arg570Ser) c.1890G>T (p.Arg630Ser) c.1557G>T (p.Arg519Ser) | |
7 | g.117591967_117591968delinsGA | CA1737393856 | CFTR | c.1800_1801delinsGA (p.Arg600=) c.*1514_*1515delinsGA (n.*1514_*1515delinsGA) c.1617_1618delinsGA (p.Arg539=) c.*100_*101delinsGA (n.*100_*101delinsGA) c.*1624_*1625delinsGA (n.*1624_*1625delinsGA) c.1374_1375delinsGA (p.Arg458=) c.1402-10859_1402-10858delinsGA (n.1402-10859_1402-10858delinsGA) c.1710_1711delinsGA (p.Arg570=) c.1890_1891delinsGA (p.Arg630=) c.1557_1558delinsGA (p.Arg519=) | |
7 | g.117591968del | CA1139660229 | CFTR | c.1801del (p.Ile601PhefsTer10) c.*1515del (n.*1515del) c.1618del (p.Ile540PhefsTer10) c.*101del (n.*101del) c.*1625del (n.*1625del) c.1375del (p.Ile459PhefsTer10) c.1402-10858del (n.1402-10858del) c.1711del (p.Ile571PhefsTer10) c.1891del (p.Ile631PhefsTer10) c.1558del (p.Ile520PhefsTer10) | ClinVar dbSNP |
7 | g.117591968A= | CA1737393862 | CFTR | c.1801A= (p.Ile601=) c.*1515A= (n.*1515A=) c.1618A= (p.Ile540=) c.*101A= (n.*101A=) c.*1625A= (n.*1625A=) c.1375A= (p.Ile459=) c.1402-10858A= (n.1402-10858A=) c.1711A= (p.Ile571=) c.1891A= (p.Ile631=) c.1558A= (p.Ile520=) | |
7 | g.117591968A>C | CA368977952 | CFTR | c.1801A>C (p.Ile601Leu) c.*1515A>C (n.*1515A>C) c.1618A>C (p.Ile540Leu) c.*101A>C (n.*101A>C) c.*1625A>C (n.*1625A>C) c.1375A>C (p.Ile459Leu) c.1402-10858A>C (n.1402-10858A>C) c.1711A>C (p.Ile571Leu) c.1891A>C (p.Ile631Leu) c.1558A>C (p.Ile520Leu) | ClinVar |
7 | g.117591968A>G | CA368977959 | CFTR | c.1801A>G (p.Ile601Val) c.*1515A>G (n.*1515A>G) c.1618A>G (p.Ile540Val) c.*101A>G (n.*101A>G) c.*1625A>G (n.*1625A>G) c.1375A>G (p.Ile459Val) c.1402-10858A>G (n.1402-10858A>G) c.1711A>G (p.Ile571Val) c.1891A>G (p.Ile631Val) c.1558A>G (p.Ile520Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117591968A>T | CA326681 | CFTR | c.1801A>T (p.Ile601Phe) c.*1515A>T (n.*1515A>T) c.1618A>T (p.Ile540Phe) c.*101A>T (n.*101A>T) c.*1625A>T (n.*1625A>T) c.1375A>T (p.Ile459Phe) c.1402-10858A>T (n.1402-10858A>T) c.1711A>T (p.Ile571Phe) c.1891A>T (p.Ile631Phe) c.1558A>T (p.Ile520Phe) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
7 | g.117591969T>A | CA368977962 | CFTR | c.1802T>A (p.Ile601Asn) c.*1516T>A (n.*1516T>A) c.1619T>A (p.Ile540Asn) c.*102T>A (n.*102T>A) c.*1626T>A (n.*1626T>A) c.1376T>A (p.Ile459Asn) c.1402-10857T>A (n.1402-10857T>A) c.1712T>A (p.Ile571Asn) c.1892T>A (p.Ile631Asn) c.1559T>A (p.Ile520Asn) | |
7 | g.117591969T>C | CA326682 | CFTR | c.1802T>C (p.Ile601Thr) c.*1516T>C (n.*1516T>C) c.1619T>C (p.Ile540Thr) c.*102T>C (n.*102T>C) c.*1626T>C (n.*1626T>C) c.1376T>C (p.Ile459Thr) c.1402-10857T>C (n.1402-10857T>C) c.1712T>C (p.Ile571Thr) c.1892T>C (p.Ile631Thr) c.1559T>C (p.Ile520Thr) | ClinVar dbSNP gnomAD v4 |
7 | g.117591969T>G | CA368977979 | CFTR | c.1802T>G (p.Ile601Ser) c.*1516T>G (n.*1516T>G) c.1619T>G (p.Ile540Ser) c.*102T>G (n.*102T>G) c.*1626T>G (n.*1626T>G) c.1376T>G (p.Ile459Ser) c.1402-10857T>G (n.1402-10857T>G) c.1712T>G (p.Ile571Ser) c.1892T>G (p.Ile631Ser) c.1559T>G (p.Ile520Ser) | |
7 | g.117591969T= | CA1737393872 | CFTR | c.1802T= (p.Ile601=) c.*1516T= (n.*1516T=) c.1619T= (p.Ile540=) c.*102T= (n.*102T=) c.*1626T= (n.*1626T=) c.1376T= (p.Ile459=) c.1402-10857T= (n.1402-10857T=) c.1712T= (p.Ile571=) c.1892T= (p.Ile631=) c.1559T= (p.Ile520=) | |
7 | g.117591972del | CA2684619353 | CFTR | c.1805del (p.Leu602TrpfsTer9) c.*1519del (n.*1519del) c.1622del (p.Leu541TrpfsTer9) c.*105del (n.*105del) c.*1629del (n.*1629del) c.1379del (p.Leu460TrpfsTer9) c.1402-10854del (n.1402-10854del) c.1715del (p.Leu572TrpfsTer9) c.1895del (p.Leu632TrpfsTer9) c.1562del (p.Leu521TrpfsTer9) | gnomAD v4 |
7 | g.117591970T>A | CA457448824 | CFTR | c.1803T>A (p.Ile601=) c.*1517T>A (n.*1517T>A) c.1620T>A (p.Ile540=) c.*103T>A (n.*103T>A) c.*1627T>A (n.*1627T>A) c.1377T>A (p.Ile459=) c.1402-10856T>A (n.1402-10856T>A) c.1713T>A (p.Ile571=) c.1893T>A (p.Ile631=) c.1560T>A (p.Ile520=) | |
7 | g.117591970T>C | CA457448825 | CFTR | c.1803T>C (p.Ile601=) c.*1517T>C (n.*1517T>C) c.1620T>C (p.Ile540=) c.*103T>C (n.*103T>C) c.*1627T>C (n.*1627T>C) c.1377T>C (p.Ile459=) c.1402-10856T>C (n.1402-10856T>C) c.1713T>C (p.Ile571=) c.1893T>C (p.Ile631=) c.1560T>C (p.Ile520=) | |
7 | g.117591970T>G | CA368977985 | CFTR | c.1803T>G (p.Ile601Met) c.*1517T>G (n.*1517T>G) c.1620T>G (p.Ile540Met) c.*103T>G (n.*103T>G) c.*1627T>G (n.*1627T>G) c.1377T>G (p.Ile459Met) c.1402-10856T>G (n.1402-10856T>G) c.1713T>G (p.Ile571Met) c.1893T>G (p.Ile631Met) c.1560T>G (p.Ile520Met) | |
7 | g.117591971T>A | CA368977986 | CFTR | c.1804T>A (p.Leu602Met) c.*1518T>A (n.*1518T>A) c.1621T>A (p.Leu541Met) c.*104T>A (n.*104T>A) c.*1628T>A (n.*1628T>A) c.1378T>A (p.Leu460Met) c.1402-10855T>A (n.1402-10855T>A) c.1714T>A (p.Leu572Met) c.1894T>A (p.Leu632Met) c.1561T>A (p.Leu521Met) | |
7 | g.117591971T>C | CA457448826 | CFTR | c.1804T>C (p.Leu602=) c.*1518T>C (n.*1518T>C) c.1621T>C (p.Leu541=) c.*104T>C (n.*104T>C) c.*1628T>C (n.*1628T>C) c.1378T>C (p.Leu460=) c.1402-10855T>C (n.1402-10855T>C) c.1714T>C (p.Leu572=) c.1894T>C (p.Leu632=) c.1561T>C (p.Leu521=) | ClinVar dbSNP gnomAD v4 |
7 | g.117591971T>G | CA368977987 | CFTR | c.1804T>G (p.Leu602Val) c.*1518T>G (n.*1518T>G) c.1621T>G (p.Leu541Val) c.*104T>G (n.*104T>G) c.*1628T>G (n.*1628T>G) c.1378T>G (p.Leu460Val) c.1402-10855T>G (n.1402-10855T>G) c.1714T>G (p.Leu572Val) c.1894T>G (p.Leu632Val) c.1561T>G (p.Leu521Val) | |
7 | g.117591971T= | CA1737393878 | CFTR | c.1804T= (p.Leu602=) c.*1518T= (n.*1518T=) c.1621T= (p.Leu541=) c.*104T= (n.*104T=) c.*1628T= (n.*1628T=) c.1378T= (p.Leu460=) c.1402-10855T= (n.1402-10855T=) c.1714T= (p.Leu572=) c.1894T= (p.Leu632=) c.1561T= (p.Leu521=) | |
7 | g.117591972T>A | CA368977989 | CFTR | c.1805T>A (p.Leu602Ter) c.*1519T>A (n.*1519T>A) c.1622T>A (p.Leu541Ter) c.*105T>A (n.*105T>A) c.*1629T>A (n.*1629T>A) c.1379T>A (p.Leu460Ter) c.1402-10854T>A (n.1402-10854T>A) c.1715T>A (p.Leu572Ter) c.1895T>A (p.Leu632Ter) c.1562T>A (p.Leu521Ter) | |
7 | g.117591972T>C | CA368977994 | CFTR | c.1805T>C (p.Leu602Ser) c.*1519T>C (n.*1519T>C) c.1622T>C (p.Leu541Ser) c.*105T>C (n.*105T>C) c.*1629T>C (n.*1629T>C) c.1379T>C (p.Leu460Ser) c.1402-10854T>C (n.1402-10854T>C) c.1715T>C (p.Leu572Ser) c.1895T>C (p.Leu632Ser) c.1562T>C (p.Leu521Ser) | |
7 | g.117591972T>G | CA368977997 | CFTR | c.1805T>G (p.Leu602Trp) c.*1519T>G (n.*1519T>G) c.1622T>G (p.Leu541Trp) c.*105T>G (n.*105T>G) c.*1629T>G (n.*1629T>G) c.1379T>G (p.Leu460Trp) c.1402-10854T>G (n.1402-10854T>G) c.1715T>G (p.Leu572Trp) c.1895T>G (p.Leu632Trp) c.1562T>G (p.Leu521Trp) | |
7 | g.117591973G>A | CA457448827 | CFTR | c.1806G>A (p.Leu602=) c.*1520G>A (n.*1520G>A) c.1623G>A (p.Leu541=) c.*106G>A (n.*106G>A) c.*1630G>A (n.*1630G>A) c.1380G>A (p.Leu460=) c.1402-10853G>A (n.1402-10853G>A) c.1716G>A (p.Leu572=) c.1896G>A (p.Leu632=) c.1563G>A (p.Leu521=) | |
7 | g.117591973G>C | CA368978001 | CFTR | c.1806G>C (p.Leu602Phe) c.*1520G>C (n.*1520G>C) c.1623G>C (p.Leu541Phe) c.*106G>C (n.*106G>C) c.*1630G>C (n.*1630G>C) c.1380G>C (p.Leu460Phe) c.1402-10853G>C (n.1402-10853G>C) c.1716G>C (p.Leu572Phe) c.1896G>C (p.Leu632Phe) c.1563G>C (p.Leu521Phe) | |
7 | g.117591973G>T | CA368978005 | CFTR | c.1806G>T (p.Leu602Phe) c.*1520G>T (n.*1520G>T) c.1623G>T (p.Leu541Phe) c.*106G>T (n.*106G>T) c.*1630G>T (n.*1630G>T) c.1380G>T (p.Leu460Phe) c.1402-10853G>T (n.1402-10853G>T) c.1716G>T (p.Leu572Phe) c.1896G>T (p.Leu632Phe) c.1563G>T (p.Leu521Phe) | ClinVar |
7 | g.117591974del | CA2580076498 | CFTR | c.1807del (p.Val603SerfsTer8) c.*1521del (n.*1521del) c.1624del (p.Val542SerfsTer8) c.*107del (n.*107del) c.*1631del (n.*1631del) c.1381del (p.Val461SerfsTer8) c.1402-10852del (n.1402-10852del) c.1717del (p.Val573SerfsTer8) c.1897del (p.Val633SerfsTer8) c.1564del (p.Val522SerfsTer8) | ClinVar |
7 | g.117591974G>A | CA4451099 | CFTR | c.1807G>A (p.Val603Ile) c.*1521G>A (n.*1521G>A) c.1624G>A (p.Val542Ile) c.*107G>A (n.*107G>A) c.*1631G>A (n.*1631G>A) c.1381G>A (p.Val461Ile) c.1402-10852G>A (n.1402-10852G>A) c.1717G>A (p.Val573Ile) c.1897G>A (p.Val633Ile) c.1564G>A (p.Val522Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117591974G>C | CA368978013 | CFTR | c.1807G>C (p.Val603Leu) c.*1521G>C (n.*1521G>C) c.1624G>C (p.Val542Leu) c.*107G>C (n.*107G>C) c.*1631G>C (n.*1631G>C) c.1381G>C (p.Val461Leu) c.1402-10852G>C (n.1402-10852G>C) c.1717G>C (p.Val573Leu) c.1897G>C (p.Val633Leu) c.1564G>C (p.Val522Leu) | |
7 | g.117591974G= | CA1737393883 | CFTR | c.1807G= (p.Val603=) c.*1521G= (n.*1521G=) c.1624G= (p.Val542=) c.*107G= (n.*107G=) c.*1631G= (n.*1631G=) c.1381G= (p.Val461=) c.1402-10852G= (n.1402-10852G=) c.1717G= (p.Val573=) c.1897G= (p.Val633=) c.1564G= (p.Val522=) | |
7 | g.117591974G>T | CA326684 | CFTR | c.1807G>T (p.Val603Phe) c.*1521G>T (n.*1521G>T) c.1624G>T (p.Val542Phe) c.*107G>T (n.*107G>T) c.*1631G>T (n.*1631G>T) c.1381G>T (p.Val461Phe) c.1402-10852G>T (n.1402-10852G>T) c.1717G>T (p.Val573Phe) c.1897G>T (p.Val633Phe) c.1564G>T (p.Val522Phe) | ClinVar dbSNP |
7 | g.117591975T>A | CA368978016 | CFTR | c.1808T>A (p.Val603Asp) c.*1522T>A (n.*1522T>A) c.1625T>A (p.Val542Asp) c.*108T>A (n.*108T>A) c.*1632T>A (n.*1632T>A) c.1382T>A (p.Val461Asp) c.1402-10851T>A (n.1402-10851T>A) c.1718T>A (p.Val573Asp) c.1898T>A (p.Val633Asp) c.1565T>A (p.Val522Asp) | |
7 | g.117591975T>C | CA4451100 | CFTR | c.1808T>C (p.Val603Ala) c.*1522T>C (n.*1522T>C) c.1625T>C (p.Val542Ala) c.*108T>C (n.*108T>C) c.*1632T>C (n.*1632T>C) c.1382T>C (p.Val461Ala) c.1402-10851T>C (n.1402-10851T>C) c.1718T>C (p.Val573Ala) c.1898T>C (p.Val633Ala) c.1565T>C (p.Val522Ala) | dbSNP ExAC gnomAD v2 |
7 | g.117591975T>G | CA368978021 | CFTR | c.1808T>G (p.Val603Gly) c.*1522T>G (n.*1522T>G) c.1625T>G (p.Val542Gly) c.*108T>G (n.*108T>G) c.*1632T>G (n.*1632T>G) c.1382T>G (p.Val461Gly) c.1402-10851T>G (n.1402-10851T>G) c.1718T>G (p.Val573Gly) c.1898T>G (p.Val633Gly) c.1565T>G (p.Val522Gly) | |
7 | g.117591975T= | CA1737393890 | CFTR | c.1808T= (p.Val603=) c.*1522T= (n.*1522T=) c.1625T= (p.Val542=) c.*108T= (n.*108T=) c.*1632T= (n.*1632T=) c.1382T= (p.Val461=) c.1402-10851T= (n.1402-10851T=) c.1718T= (p.Val573=) c.1898T= (p.Val633=) c.1565T= (p.Val522=) | |
7 | g.117591976C>A | CA457448828 | CFTR | c.1809C>A (p.Val603=) c.*1523C>A (n.*1523C>A) c.1626C>A (p.Val542=) c.*109C>A (n.*109C>A) c.*1633C>A (n.*1633C>A) c.1383C>A (p.Val461=) c.1402-10850C>A (n.1402-10850C>A) c.1719C>A (p.Val573=) c.1899C>A (p.Val633=) c.1566C>A (p.Val522=) | gnomAD v4 |
7 | g.117591976C= | CA1737393893 | CFTR | c.1809C= (p.Val603=) c.*1523C= (n.*1523C=) c.1626C= (p.Val542=) c.*109C= (n.*109C=) c.*1633C= (n.*1633C=) c.1383C= (p.Val461=) c.1402-10850C= (n.1402-10850C=) c.1719C= (p.Val573=) c.1899C= (p.Val633=) c.1566C= (p.Val522=) | |
7 | g.117591976C>G | CA457448829 | CFTR | c.1809C>G (p.Val603=) c.*1523C>G (n.*1523C>G) c.1626C>G (p.Val542=) c.*109C>G (n.*109C>G) c.*1633C>G (n.*1633C>G) c.1383C>G (p.Val461=) c.1402-10850C>G (n.1402-10850C>G) c.1719C>G (p.Val573=) c.1899C>G (p.Val633=) c.1566C>G (p.Val522=) | |
7 | g.117591976C>T | CA4451101 | CFTR | c.1809C>T (p.Val603=) c.*1523C>T (n.*1523C>T) c.1626C>T (p.Val542=) c.*109C>T (n.*109C>T) c.*1633C>T (n.*1633C>T) c.1383C>T (p.Val461=) c.1402-10850C>T (n.1402-10850C>T) c.1719C>T (p.Val573=) c.1899C>T (p.Val633=) c.1566C>T (p.Val522=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.117591977A= | CA1737393901 | CFTR | c.1810A= (p.Thr604=) c.*1524A= (n.*1524A=) c.1627A= (p.Thr543=) c.*110A= (n.*110A=) c.*1634A= (n.*1634A=) c.1384A= (p.Thr462=) c.1402-10849A= (n.1402-10849A=) c.1720A= (p.Thr574=) c.1900A= (p.Thr634=) c.1567A= (p.Thr523=) | |
7 | g.117591977A>C | CA368978040 | CFTR | c.1810A>C (p.Thr604Pro) c.*1524A>C (n.*1524A>C) c.1627A>C (p.Thr543Pro) c.*110A>C (n.*110A>C) c.*1634A>C (n.*1634A>C) c.1384A>C (p.Thr462Pro) c.1402-10849A>C (n.1402-10849A>C) c.1720A>C (p.Thr574Pro) c.1900A>C (p.Thr634Pro) c.1567A>C (p.Thr523Pro) | ClinVar dbSNP |
7 | g.117591977A>G | CA368978037 | CFTR | c.1810A>G (p.Thr604Ala) c.*1524A>G (n.*1524A>G) c.1627A>G (p.Thr543Ala) c.*110A>G (n.*110A>G) c.*1634A>G (n.*1634A>G) c.1384A>G (p.Thr462Ala) c.1402-10849A>G (n.1402-10849A>G) c.1720A>G (p.Thr574Ala) c.1900A>G (p.Thr634Ala) c.1567A>G (p.Thr523Ala) | |
7 | g.117591977A>T | CA368978029 | CFTR | c.1810A>T (p.Thr604Ser) c.*1524A>T (n.*1524A>T) c.1627A>T (p.Thr543Ser) c.*110A>T (n.*110A>T) c.*1634A>T (n.*1634A>T) c.1384A>T (p.Thr462Ser) c.1402-10849A>T (n.1402-10849A>T) c.1720A>T (p.Thr574Ser) c.1900A>T (p.Thr634Ser) c.1567A>T (p.Thr523Ser) | |
7 | g.117591978del | CA2739278626 | CFTR | c.1811del (p.Thr604IlefsTer7) c.*1525del (n.*1525del) c.1628del (p.Thr543IlefsTer7) c.*111del (n.*111del) c.*1635del (n.*1635del) c.1385del (p.Thr462IlefsTer7) c.1402-10848del (n.1402-10848del) c.1721del (p.Thr574IlefsTer7) c.1901del (p.Thr634IlefsTer7) c.1568del (p.Thr523IlefsTer7) | ClinVar |
7 | g.117591978C>A | CA368978046 | CFTR | c.1811C>A (p.Thr604Asn) c.*1525C>A (n.*1525C>A) c.1628C>A (p.Thr543Asn) c.*111C>A (n.*111C>A) c.*1635C>A (n.*1635C>A) c.1385C>A (p.Thr462Asn) c.1402-10848C>A (n.1402-10848C>A) c.1721C>A (p.Thr574Asn) c.1901C>A (p.Thr634Asn) c.1568C>A (p.Thr523Asn) | |
7 | g.117591978C= | CA1737393908 | CFTR | c.1811C= (p.Thr604=) c.*1525C= (n.*1525C=) c.1628C= (p.Thr543=) c.*111C= (n.*111C=) c.*1635C= (n.*1635C=) c.1385C= (p.Thr462=) c.1402-10848C= (n.1402-10848C=) c.1721C= (p.Thr574=) c.1901C= (p.Thr634=) c.1568C= (p.Thr523=) | |
7 | g.117591978C>G | CA326686 | CFTR | c.1811C>G (p.Thr604Ser) c.*1525C>G (n.*1525C>G) c.1628C>G (p.Thr543Ser) c.*111C>G (n.*111C>G) c.*1635C>G (n.*1635C>G) c.1385C>G (p.Thr462Ser) c.1402-10848C>G (n.1402-10848C>G) c.1721C>G (p.Thr574Ser) c.1901C>G (p.Thr634Ser) c.1568C>G (p.Thr523Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117591978C>T | CA326688 | CFTR | c.1811C>T (p.Thr604Ile) c.*1525C>T (n.*1525C>T) c.1628C>T (p.Thr543Ile) c.*111C>T (n.*111C>T) c.*1635C>T (n.*1635C>T) c.1385C>T (p.Thr462Ile) c.1402-10848C>T (n.1402-10848C>T) c.1721C>T (p.Thr574Ile) c.1901C>T (p.Thr634Ile) c.1568C>T (p.Thr523Ile) | ClinVar dbSNP gnomAD v4 |
7 | g.117591979T>A | CA457448830 | CFTR | c.1812T>A (p.Thr604=) c.*1526T>A (n.*1526T>A) c.1629T>A (p.Thr543=) c.*112T>A (n.*112T>A) c.*1636T>A (n.*1636T>A) c.1386T>A (p.Thr462=) c.1402-10847T>A (n.1402-10847T>A) c.1722T>A (p.Thr574=) c.1902T>A (p.Thr634=) c.1569T>A (p.Thr523=) | |
7 | g.117591979T>C | CA457448832 | CFTR | c.1812T>C (p.Thr604=) c.*1526T>C (n.*1526T>C) c.1629T>C (p.Thr543=) c.*112T>C (n.*112T>C) c.*1636T>C (n.*1636T>C) c.1386T>C (p.Thr462=) c.1402-10847T>C (n.1402-10847T>C) c.1722T>C (p.Thr574=) c.1902T>C (p.Thr634=) c.1569T>C (p.Thr523=) | |
7 | g.117591979T>G | CA457448831 | CFTR | c.1812T>G (p.Thr604=) c.*1526T>G (n.*1526T>G) c.1629T>G (p.Thr543=) c.*112T>G (n.*112T>G) c.*1636T>G (n.*1636T>G) c.1386T>G (p.Thr462=) c.1402-10847T>G (n.1402-10847T>G) c.1722T>G (p.Thr574=) c.1902T>G (p.Thr634=) c.1569T>G (p.Thr523=) | |
7 | g.117591980T>A | CA368978055 | CFTR | c.1813T>A (p.Ser605Thr) c.*1527T>A (n.*1527T>A) c.1630T>A (p.Ser544Thr) c.*113T>A (n.*113T>A) c.*1637T>A (n.*1637T>A) c.1387T>A (p.Ser463Thr) c.1402-10846T>A (n.1402-10846T>A) c.1723T>A (p.Ser575Thr) c.1903T>A (p.Ser635Thr) c.1570T>A (p.Ser524Thr) | |
7 | g.117591980T>C | CA4451102 | CFTR | c.1813T>C (p.Ser605Pro) c.*1527T>C (n.*1527T>C) c.1630T>C (p.Ser544Pro) c.*113T>C (n.*113T>C) c.*1637T>C (n.*1637T>C) c.1387T>C (p.Ser463Pro) c.1402-10846T>C (n.1402-10846T>C) c.1723T>C (p.Ser575Pro) c.1903T>C (p.Ser635Pro) c.1570T>C (p.Ser524Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117591980T>G | CA368978060 | CFTR | c.1813T>G (p.Ser605Ala) c.*1527T>G (n.*1527T>G) c.1630T>G (p.Ser544Ala) c.*113T>G (n.*113T>G) c.*1637T>G (n.*1637T>G) c.1387T>G (p.Ser463Ala) c.1402-10846T>G (n.1402-10846T>G) c.1723T>G (p.Ser575Ala) c.1903T>G (p.Ser635Ala) c.1570T>G (p.Ser524Ala) | |
7 | g.117591980T= | CA1737393916 | CFTR | c.1813T= (p.Ser605=) c.*1527T= (n.*1527T=) c.1630T= (p.Ser544=) c.*113T= (n.*113T=) c.*1637T= (n.*1637T=) c.1387T= (p.Ser463=) c.1402-10846T= (n.1402-10846T=) c.1723T= (p.Ser575=) c.1903T= (p.Ser635=) c.1570T= (p.Ser524=) | |
7 | g.117591981C>A | CA368978072 | CFTR | c.1814C>A (p.Ser605Tyr) c.*1528C>A (n.*1528C>A) c.1631C>A (p.Ser544Tyr) c.*114C>A (n.*114C>A) c.*1638C>A (n.*1638C>A) c.1388C>A (p.Ser463Tyr) c.1402-10845C>A (n.1402-10845C>A) c.1724C>A (p.Ser575Tyr) c.1904C>A (p.Ser635Tyr) c.1571C>A (p.Ser524Tyr) | |
7 | g.117591981C= | CA1737393918 | CFTR | c.1814C= (p.Ser605=) c.*1528C= (n.*1528C=) c.1631C= (p.Ser544=) c.*114C= (n.*114C=) c.*1638C= (n.*1638C=) c.1388C= (p.Ser463=) c.1402-10845C= (n.1402-10845C=) c.1724C= (p.Ser575=) c.1904C= (p.Ser635=) c.1571C= (p.Ser524=) | |
7 | g.117591981C>G | CA368978067 | CFTR | c.1814C>G (p.Ser605Cys) c.*1528C>G (n.*1528C>G) c.1631C>G (p.Ser544Cys) c.*114C>G (n.*114C>G) c.*1638C>G (n.*1638C>G) c.1388C>G (p.Ser463Cys) c.1402-10845C>G (n.1402-10845C>G) c.1724C>G (p.Ser575Cys) c.1904C>G (p.Ser635Cys) c.1571C>G (p.Ser524Cys) | |
7 | g.117591981C>T | CA164947442 | CFTR | c.1814C>T (p.Ser605Phe) c.*1528C>T (n.*1528C>T) c.1631C>T (p.Ser544Phe) c.*114C>T (n.*114C>T) c.*1638C>T (n.*1638C>T) c.1388C>T (p.Ser463Phe) c.1402-10845C>T (n.1402-10845C>T) c.1724C>T (p.Ser575Phe) c.1904C>T (p.Ser635Phe) c.1571C>T (p.Ser524Phe) | dbSNP |
7 | g.117591982T>A | CA457448833 | CFTR | c.1815T>A (p.Ser605=) c.*1529T>A (n.*1529T>A) c.1632T>A (p.Ser544=) c.*115T>A (n.*115T>A) c.*1639T>A (n.*1639T>A) c.1389T>A (p.Ser463=) c.1402-10844T>A (n.1402-10844T>A) c.1725T>A (p.Ser575=) c.1905T>A (p.Ser635=) c.1572T>A (p.Ser524=) | |
7 | g.117591982T>C | CA457448834 | CFTR | c.1815T>C (p.Ser605=) c.*1529T>C (n.*1529T>C) c.1632T>C (p.Ser544=) c.*115T>C (n.*115T>C) c.*1639T>C (n.*1639T>C) c.1389T>C (p.Ser463=) c.1402-10844T>C (n.1402-10844T>C) c.1725T>C (p.Ser575=) c.1905T>C (p.Ser635=) c.1572T>C (p.Ser524=) | dbSNP |
7 | g.117591982T>G | CA457448835 | CFTR | c.1815T>G (p.Ser605=) c.*1529T>G (n.*1529T>G) c.1632T>G (p.Ser544=) c.*115T>G (n.*115T>G) c.*1639T>G (n.*1639T>G) c.1389T>G (p.Ser463=) c.1402-10844T>G (n.1402-10844T>G) c.1725T>G (p.Ser575=) c.1905T>G (p.Ser635=) c.1572T>G (p.Ser524=) | |
7 | g.117591982T= | CA1737393921 | CFTR | c.1815T= (p.Ser605=) c.*1529T= (n.*1529T=) c.1632T= (p.Ser544=) c.*115T= (n.*115T=) c.*1639T= (n.*1639T=) c.1389T= (p.Ser463=) c.1402-10844T= (n.1402-10844T=) c.1725T= (p.Ser575=) c.1905T= (p.Ser635=) c.1572T= (p.Ser524=) | |
7 | g.117591983A= | CA1737393926 | CFTR | c.1816A= (p.Lys606=) c.*1530A= (n.*1530A=) c.1633A= (p.Lys545=) c.*116A= (n.*116A=) c.*1640A= (n.*1640A=) c.1390A= (p.Lys464=) c.1402-10843A= (n.1402-10843A=) c.1726A= (p.Lys576=) c.1906A= (p.Lys636=) c.1573A= (p.Lys525=) | |
7 | g.117591983A>C | CA368978076 | CFTR | c.1816A>C (p.Lys606Gln) c.*1530A>C (n.*1530A>C) c.1633A>C (p.Lys545Gln) c.*116A>C (n.*116A>C) c.*1640A>C (n.*1640A>C) c.1390A>C (p.Lys464Gln) c.1402-10843A>C (n.1402-10843A>C) c.1726A>C (p.Lys576Gln) c.1906A>C (p.Lys636Gln) c.1573A>C (p.Lys525Gln) | |
7 | g.117591983A>G | CA368978081 | CFTR | c.1816A>G (p.Lys606Glu) c.*1530A>G (n.*1530A>G) c.1633A>G (p.Lys545Glu) c.*116A>G (n.*116A>G) c.*1640A>G (n.*1640A>G) c.1390A>G (p.Lys464Glu) c.1402-10843A>G (n.1402-10843A>G) c.1726A>G (p.Lys576Glu) c.1906A>G (p.Lys636Glu) c.1573A>G (p.Lys525Glu) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117591983A>T | CA368978088 | CFTR | c.1816A>T (p.Lys606Ter) c.*1530A>T (n.*1530A>T) c.1633A>T (p.Lys545Ter) c.*116A>T (n.*116A>T) c.*1640A>T (n.*1640A>T) c.1390A>T (p.Lys464Ter) c.1402-10843A>T (n.1402-10843A>T) c.1726A>T (p.Lys576Ter) c.1906A>T (p.Lys636Ter) c.1573A>T (p.Lys525Ter) | |
7 | g.117591983_117592067delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC | CA1737393925 | CFTR | c.1816_1900delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys606=) c.*1530_*1614delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (n.*1530_*1614delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC) c.1633_1717delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys545=) c.*116_*200delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (n.*116_*200delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC) c.*1640_*1724delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (n.*1640_*1724delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC) c.1390_1474delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys464=) c.1402-10843_1402-10759delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (n.1402-10843_1402-10759delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC) c.1726_1810delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys576=) c.1906_1990delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys636=) c.1573_1657delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys525=) | |
7 | g.117591983_117591984insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT | CA164947456 | CFTR | c.1816_1817insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT (p.Lys606ArgfsTer8) c.*1530_*1531insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT (n.*1530_*1531insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT) c.1633_1634insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT (p.Lys545ArgfsTer8) c.*116_*117insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT (n.*116_*117insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT) c.*1640_*1641insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT (n.*1640_*1641insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT) c.1390_1391insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT (p.Lys464ArgfsTer8) c.1402-10843_1402-10842insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT (n.1402-10843_1402-10842insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT) c.1726_1727insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT (p.Lys576ArgfsTer8) c.1906_1907insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT (p.Lys636ArgfsTer8) c.1573_1574insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT (p.Lys525ArgfsTer8) | dbSNP |
7 | g.117591984A>C | CA368978097 | CFTR | c.1817A>C (p.Lys606Thr) c.*1531A>C (n.*1531A>C) c.1634A>C (p.Lys545Thr) c.*117A>C (n.*117A>C) c.*1641A>C (n.*1641A>C) c.1391A>C (p.Lys464Thr) c.1402-10842A>C (n.1402-10842A>C) c.1727A>C (p.Lys576Thr) c.1907A>C (p.Lys636Thr) c.1574A>C (p.Lys525Thr) | |
7 | g.117591984A>G | CA368978099 | CFTR | c.1817A>G (p.Lys606Arg) c.*1531A>G (n.*1531A>G) c.1634A>G (p.Lys545Arg) c.*117A>G (n.*117A>G) c.*1641A>G (n.*1641A>G) c.1391A>G (p.Lys464Arg) c.1402-10842A>G (n.1402-10842A>G) c.1727A>G (p.Lys576Arg) c.1907A>G (p.Lys636Arg) c.1574A>G (p.Lys525Arg) | |
7 | g.117591984A>T | CA368978103 | CFTR | c.1817A>T (p.Lys606Ile) c.*1531A>T (n.*1531A>T) c.1634A>T (p.Lys545Ile) c.*117A>T (n.*117A>T) c.*1641A>T (n.*1641A>T) c.1391A>T (p.Lys464Ile) c.1402-10842A>T (n.1402-10842A>T) c.1727A>T (p.Lys576Ile) c.1907A>T (p.Lys636Ile) c.1574A>T (p.Lys525Ile) | |
7 | g.117591987_117592070dup | CA918111646 | CFTR | c.1820_1903dup (p.Gln634_Asn635insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln) c.*1534_*1617dup (n.*1534_*1617dup) c.1637_1720dup (p.Gln573_Asn574insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln) c.*120_*203dup (n.*120_*203dup) c.*1644_*1727dup (n.*1644_*1727dup) c.1394_1477dup (p.Gln492_Asn493insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln) c.1402-10839_1402-10756dup (n.1402-10839_1402-10756dup) c.1730_1813dup (p.Gln604_Asn605insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln) c.1910_1993dup (p.Gln664_Asn665insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln) c.1577_1660dup (p.Gln553_Asn554insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln) | dbSNP |
7 | g.117591987_117592070del | CA325542 | CFTR | c.1820_1903del (p.Met607_Gln634del) c.*1534_*1617del (n.*1534_*1617del) c.1637_1720del (p.Met546_Gln573del) c.*120_*203del (n.*120_*203del) c.*1644_*1727del (n.*1644_*1727del) c.1394_1477del (p.Met465_Gln492del) c.1402-10839_1402-10756del (n.1402-10839_1402-10756del) c.1730_1813del (p.Met577_Gln604del) c.1910_1993del (p.Met637_Gln664del) c.1577_1660del (p.Met526_Gln553del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117591985A>C | CA368978111 | CFTR | c.1818A>C (p.Lys606Asn) c.*1532A>C (n.*1532A>C) c.1635A>C (p.Lys545Asn) c.*118A>C (n.*118A>C) c.*1642A>C (n.*1642A>C) c.1392A>C (p.Lys464Asn) c.1402-10841A>C (n.1402-10841A>C) c.1728A>C (p.Lys576Asn) c.1908A>C (p.Lys636Asn) c.1575A>C (p.Lys525Asn) | |
7 | g.117591985A>G | CA457448836 | CFTR | c.1818A>G (p.Lys606=) c.*1532A>G (n.*1532A>G) c.1635A>G (p.Lys545=) c.*118A>G (n.*118A>G) c.*1642A>G (n.*1642A>G) c.1392A>G (p.Lys464=) c.1402-10841A>G (n.1402-10841A>G) c.1728A>G (p.Lys576=) c.1908A>G (p.Lys636=) c.1575A>G (p.Lys525=) | |
7 | g.117591985A>T | CA368978115 | CFTR | c.1818A>T (p.Lys606Asn) c.*1532A>T (n.*1532A>T) c.1635A>T (p.Lys545Asn) c.*118A>T (n.*118A>T) c.*1642A>T (n.*1642A>T) c.1392A>T (p.Lys464Asn) c.1402-10841A>T (n.1402-10841A>T) c.1728A>T (p.Lys576Asn) c.1908A>T (p.Lys636Asn) c.1575A>T (p.Lys525Asn) | |
7 | g.117591986A>C | CA368978131 | CFTR | c.1819A>C (p.Met607Leu) c.*1533A>C (n.*1533A>C) c.1636A>C (p.Met546Leu) c.*119A>C (n.*119A>C) c.*1643A>C (n.*1643A>C) c.1393A>C (p.Met465Leu) c.1402-10840A>C (n.1402-10840A>C) c.1729A>C (p.Met577Leu) c.1909A>C (p.Met637Leu) c.1576A>C (p.Met526Leu) | |
7 | g.117591986A>G | CA368978134 | CFTR | c.1819A>G (p.Met607Val) c.*1533A>G (n.*1533A>G) c.1636A>G (p.Met546Val) c.*119A>G (n.*119A>G) c.*1643A>G (n.*1643A>G) c.1393A>G (p.Met465Val) c.1402-10840A>G (n.1402-10840A>G) c.1729A>G (p.Met577Val) c.1909A>G (p.Met637Val) c.1576A>G (p.Met526Val) | |
7 | g.117591986A>T | CA368978137 | CFTR | c.1819A>T (p.Met607Leu) c.*1533A>T (n.*1533A>T) c.1636A>T (p.Met546Leu) c.*119A>T (n.*119A>T) c.*1643A>T (n.*1643A>T) c.1393A>T (p.Met465Leu) c.1402-10840A>T (n.1402-10840A>T) c.1729A>T (p.Met577Leu) c.1909A>T (p.Met637Leu) c.1576A>T (p.Met526Leu) | |
7 | g.117591987T>A | CA368978149 | CFTR | c.1820T>A (p.Met607Lys) c.*1534T>A (n.*1534T>A) c.1637T>A (p.Met546Lys) c.*120T>A (n.*120T>A) c.*1644T>A (n.*1644T>A) c.1394T>A (p.Met465Lys) c.1402-10839T>A (n.1402-10839T>A) c.1730T>A (p.Met577Lys) c.1910T>A (p.Met637Lys) c.1577T>A (p.Met526Lys) | |
7 | g.117591987T>C | CA368978145 | CFTR | c.1820T>C (p.Met607Thr) c.*1534T>C (n.*1534T>C) c.1637T>C (p.Met546Thr) c.*120T>C (n.*120T>C) c.*1644T>C (n.*1644T>C) c.1394T>C (p.Met465Thr) c.1402-10839T>C (n.1402-10839T>C) c.1730T>C (p.Met577Thr) c.1910T>C (p.Met637Thr) c.1577T>C (p.Met526Thr) | ClinVar gnomAD v4 |
7 | g.117591987T>G | CA368978141 | CFTR | c.1820T>G (p.Met607Arg) c.*1534T>G (n.*1534T>G) c.1637T>G (p.Met546Arg) c.*120T>G (n.*120T>G) c.*1644T>G (n.*1644T>G) c.1394T>G (p.Met465Arg) c.1402-10839T>G (n.1402-10839T>G) c.1730T>G (p.Met577Arg) c.1910T>G (p.Met637Arg) c.1577T>G (p.Met526Arg) | |
7 | g.117591988G>A | CA368978154 | CFTR | c.1821G>A (p.Met607Ile) c.*1535G>A (n.*1535G>A) c.1638G>A (p.Met546Ile) c.*121G>A (n.*121G>A) c.*1645G>A (n.*1645G>A) c.1395G>A (p.Met465Ile) c.1402-10838G>A (n.1402-10838G>A) c.1731G>A (p.Met577Ile) c.1911G>A (p.Met637Ile) c.1578G>A (p.Met526Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117591988G>C | CA368978156 | CFTR | c.1821G>C (p.Met607Ile) c.*1535G>C (n.*1535G>C) c.1638G>C (p.Met546Ile) c.*121G>C (n.*121G>C) c.*1645G>C (n.*1645G>C) c.1395G>C (p.Met465Ile) c.1402-10838G>C (n.1402-10838G>C) c.1731G>C (p.Met577Ile) c.1911G>C (p.Met637Ile) c.1578G>C (p.Met526Ile) | |
7 | g.117591988G= | CA1737393934 | CFTR | c.1821G= (p.Met607=) c.*1535G= (n.*1535G=) c.1638G= (p.Met546=) c.*121G= (n.*121G=) c.*1645G= (n.*1645G=) c.1395G= (p.Met465=) c.1402-10838G= (n.1402-10838G=) c.1731G= (p.Met577=) c.1911G= (p.Met637=) c.1578G= (p.Met526=) | |
7 | g.117591988G>T | CA368978159 | CFTR | c.1821G>T (p.Met607Ile) c.*1535G>T (n.*1535G>T) c.1638G>T (p.Met546Ile) c.*121G>T (n.*121G>T) c.*1645G>T (n.*1645G>T) c.1395G>T (p.Met465Ile) c.1402-10838G>T (n.1402-10838G>T) c.1731G>T (p.Met577Ile) c.1911G>T (p.Met637Ile) c.1578G>T (p.Met526Ile) | |
7 | g.117591989del | CA2580076499 | CFTR | c.1822del (p.Glu608AsnfsTer3) c.*1536del (n.*1536del) c.1639del (p.Glu547AsnfsTer3) c.*122del (n.*122del) c.*1646del (n.*1646del) c.1396del (p.Glu466AsnfsTer3) c.1402-10837del (n.1402-10837del) c.1732del (p.Glu578AsnfsTer3) c.1912del (p.Glu638AsnfsTer3) c.1579del (p.Glu527AsnfsTer3) | ClinVar |
7 | g.117591989G>A | CA368978165 | CFTR | c.1822G>A (p.Glu608Lys) c.*1536G>A (n.*1536G>A) c.1639G>A (p.Glu547Lys) c.*122G>A (n.*122G>A) c.*1646G>A (n.*1646G>A) c.1396G>A (p.Glu466Lys) c.1402-10837G>A (n.1402-10837G>A) c.1732G>A (p.Glu578Lys) c.1912G>A (p.Glu638Lys) c.1579G>A (p.Glu527Lys) | gnomAD v4 COSMIC |
7 | g.117591989G>C | CA368978168 | CFTR | c.1822G>C (p.Glu608Gln) c.*1536G>C (n.*1536G>C) c.1639G>C (p.Glu547Gln) c.*122G>C (n.*122G>C) c.*1646G>C (n.*1646G>C) c.1396G>C (p.Glu466Gln) c.1402-10837G>C (n.1402-10837G>C) c.1732G>C (p.Glu578Gln) c.1912G>C (p.Glu638Gln) c.1579G>C (p.Glu527Gln) | gnomAD v4 |
7 | g.117591989G>T | CA368978172 | CFTR | c.1822G>T (p.Glu608Ter) c.*1536G>T (n.*1536G>T) c.1639G>T (p.Glu547Ter) c.*122G>T (n.*122G>T) c.*1646G>T (n.*1646G>T) c.1396G>T (p.Glu466Ter) c.1402-10837G>T (n.1402-10837G>T) c.1732G>T (p.Glu578Ter) c.1912G>T (p.Glu638Ter) c.1579G>T (p.Glu527Ter) | |
7 | g.117591990A= | CA1737393937 | CFTR | c.1823A= (p.Glu608=) c.*1537A= (n.*1537A=) c.1640A= (p.Glu547=) c.*123A= (n.*123A=) c.*1647A= (n.*1647A=) c.1397A= (p.Glu466=) c.1402-10836A= (n.1402-10836A=) c.1733A= (p.Glu578=) c.1913A= (p.Glu638=) c.1580A= (p.Glu527=) | |
7 | g.117591990A>C | CA368978191 | CFTR | c.1823A>C (p.Glu608Ala) c.*1537A>C (n.*1537A>C) c.1640A>C (p.Glu547Ala) c.*123A>C (n.*123A>C) c.*1647A>C (n.*1647A>C) c.1397A>C (p.Glu466Ala) c.1402-10836A>C (n.1402-10836A>C) c.1733A>C (p.Glu578Ala) c.1913A>C (p.Glu638Ala) c.1580A>C (p.Glu527Ala) | |
7 | g.117591990A>G | CA326690 | CFTR | c.1823A>G (p.Glu608Gly) c.*1537A>G (n.*1537A>G) c.1640A>G (p.Glu547Gly) c.*123A>G (n.*123A>G) c.*1647A>G (n.*1647A>G) c.1397A>G (p.Glu466Gly) c.1402-10836A>G (n.1402-10836A>G) c.1733A>G (p.Glu578Gly) c.1913A>G (p.Glu638Gly) c.1580A>G (p.Glu527Gly) | ClinVar dbSNP |
7 | g.117591990A>T | CA368978183 | CFTR | c.1823A>T (p.Glu608Val) c.*1537A>T (n.*1537A>T) c.1640A>T (p.Glu547Val) c.*123A>T (n.*123A>T) c.*1647A>T (n.*1647A>T) c.1397A>T (p.Glu466Val) c.1402-10836A>T (n.1402-10836A>T) c.1733A>T (p.Glu578Val) c.1913A>T (p.Glu638Val) c.1580A>T (p.Glu527Val) | |
7 | g.117591991A>C | CA368978196 | CFTR | c.1824A>C (p.Glu608Asp) c.*1538A>C (n.*1538A>C) c.1641A>C (p.Glu547Asp) c.*124A>C (n.*124A>C) c.*1648A>C (n.*1648A>C) c.1398A>C (p.Glu466Asp) c.1402-10835A>C (n.1402-10835A>C) c.1734A>C (p.Glu578Asp) c.1914A>C (p.Glu638Asp) c.1581A>C (p.Glu527Asp) | |
7 | g.117591991A>G | CA457448837 | CFTR | c.1824A>G (p.Glu608=) c.*1538A>G (n.*1538A>G) c.1641A>G (p.Glu547=) c.*124A>G (n.*124A>G) c.*1648A>G (n.*1648A>G) c.1398A>G (p.Glu466=) c.1402-10835A>G (n.1402-10835A>G) c.1734A>G (p.Glu578=) c.1914A>G (p.Glu638=) c.1581A>G (p.Glu527=) | ClinVar dbSNP gnomAD v4 COSMIC |
7 | g.117591991A>T | CA368978198 | CFTR | c.1824A>T (p.Glu608Asp) c.*1538A>T (n.*1538A>T) c.1641A>T (p.Glu547Asp) c.*124A>T (n.*124A>T) c.*1648A>T (n.*1648A>T) c.1398A>T (p.Glu466Asp) c.1402-10835A>T (n.1402-10835A>T) c.1734A>T (p.Glu578Asp) c.1914A>T (p.Glu638Asp) c.1581A>T (p.Glu527Asp) | |
7 | g.117591992C>A | CA368978200 | CFTR | c.1825C>A (p.His609Asn) c.*1539C>A (n.*1539C>A) c.1642C>A (p.His548Asn) c.*125C>A (n.*125C>A) c.*1649C>A (n.*1649C>A) c.1399C>A (p.His467Asn) c.1402-10834C>A (n.1402-10834C>A) c.1735C>A (p.His579Asn) c.1915C>A (p.His639Asn) c.1582C>A (p.His528Asn) | gnomAD v4 |
7 | g.117591992C>G | CA368978205 | CFTR | c.1825C>G (p.His609Asp) c.*1539C>G (n.*1539C>G) c.1642C>G (p.His548Asp) c.*125C>G (n.*125C>G) c.*1649C>G (n.*1649C>G) c.1399C>G (p.His467Asp) c.1402-10834C>G (n.1402-10834C>G) c.1735C>G (p.His579Asp) c.1915C>G (p.His639Asp) c.1582C>G (p.His528Asp) | |
7 | g.117591992C>T | CA368978208 | CFTR | c.1825C>T (p.His609Tyr) c.*1539C>T (n.*1539C>T) c.1642C>T (p.His548Tyr) c.*125C>T (n.*125C>T) c.*1649C>T (n.*1649C>T) c.1399C>T (p.His467Tyr) c.1402-10834C>T (n.1402-10834C>T) c.1735C>T (p.His579Tyr) c.1915C>T (p.His639Tyr) c.1582C>T (p.His528Tyr) | ClinVar dbSNP gnomAD v4 |
7 | g.117591993A= | CA1737393950 | CFTR | c.1826A= (p.His609=) c.*1540A= (n.*1540A=) c.1643A= (p.His548=) c.*126A= (n.*126A=) c.*1650A= (n.*1650A=) c.1400A= (p.His467=) c.1402-10833A= (n.1402-10833A=) c.1736A= (p.His579=) c.1916A= (p.His639=) c.1583A= (p.His528=) | |
7 | g.117591993A>C | CA368978213 | CFTR | c.1826A>C (p.His609Pro) c.*1540A>C (n.*1540A>C) c.1643A>C (p.His548Pro) c.*126A>C (n.*126A>C) c.*1650A>C (n.*1650A>C) c.1400A>C (p.His467Pro) c.1402-10833A>C (n.1402-10833A>C) c.1736A>C (p.His579Pro) c.1916A>C (p.His639Pro) c.1583A>C (p.His528Pro) | |
7 | g.117591993A>G | CA326692 | CFTR | c.1826A>G (p.His609Arg) c.*1540A>G (n.*1540A>G) c.1643A>G (p.His548Arg) c.*126A>G (n.*126A>G) c.*1650A>G (n.*1650A>G) c.1400A>G (p.His467Arg) c.1402-10833A>G (n.1402-10833A>G) c.1736A>G (p.His579Arg) c.1916A>G (p.His639Arg) c.1583A>G (p.His528Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117591993A>T | CA326694 | CFTR | c.1826A>T (p.His609Leu) c.*1540A>T (n.*1540A>T) c.1643A>T (p.His548Leu) c.*126A>T (n.*126A>T) c.*1650A>T (n.*1650A>T) c.1400A>T (p.His467Leu) c.1402-10833A>T (n.1402-10833A>T) c.1736A>T (p.His579Leu) c.1916A>T (p.His639Leu) c.1583A>T (p.His528Leu) | ClinVar dbSNP COSMIC |
7 | g.117591994T>A | CA368978218 | CFTR | c.1827T>A (p.His609Gln) c.*1541T>A (n.*1541T>A) c.1644T>A (p.His548Gln) c.*127T>A (n.*127T>A) c.*1651T>A (n.*1651T>A) c.1401T>A (p.His467Gln) c.1402-10832T>A (n.1402-10832T>A) c.1737T>A (p.His579Gln) c.1917T>A (p.His639Gln) c.1584T>A (p.His528Gln) | |
7 | g.117591994T>C | CA457448838 | CFTR | c.1827T>C (p.His609=) c.*1541T>C (n.*1541T>C) c.1644T>C (p.His548=) c.*127T>C (n.*127T>C) c.*1651T>C (n.*1651T>C) c.1401T>C (p.His467=) c.1402-10832T>C (n.1402-10832T>C) c.1737T>C (p.His579=) c.1917T>C (p.His639=) c.1584T>C (p.His528=) | |
7 | g.117591994T>G | CA368978219 | CFTR | c.1827T>G (p.His609Gln) c.*1541T>G (n.*1541T>G) c.1644T>G (p.His548Gln) c.*127T>G (n.*127T>G) c.*1651T>G (n.*1651T>G) c.1401T>G (p.His467Gln) c.1402-10832T>G (n.1402-10832T>G) c.1737T>G (p.His579Gln) c.1917T>G (p.His639Gln) c.1584T>G (p.His528Gln) | |
7 | g.117591995T>A | CA4451103 | CFTR | c.1828T>A (p.Leu610Ile) c.*1542T>A (n.*1542T>A) c.1645T>A (p.Leu549Ile) c.*128T>A (n.*128T>A) c.*1652T>A (n.*1652T>A) c.1402T>A (p.Leu468Ile) c.1402-10831T>A (n.1402-10831T>A) c.1738T>A (p.Leu580Ile) c.1918T>A (p.Leu640Ile) c.1585T>A (p.Leu529Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117591995T>C | CA457448839 | CFTR | c.1828T>C (p.Leu610=) c.*1542T>C (n.*1542T>C) c.1645T>C (p.Leu549=) c.*128T>C (n.*128T>C) c.*1652T>C (n.*1652T>C) c.1402T>C (p.Leu468=) c.1402-10831T>C (n.1402-10831T>C) c.1738T>C (p.Leu580=) c.1918T>C (p.Leu640=) c.1585T>C (p.Leu529=) | ClinVar |
7 | g.117591995T>G | CA368978224 | CFTR | c.1828T>G (p.Leu610Val) c.*1542T>G (n.*1542T>G) c.1645T>G (p.Leu549Val) c.*128T>G (n.*128T>G) c.*1652T>G (n.*1652T>G) c.1402T>G (p.Leu468Val) c.1402-10831T>G (n.1402-10831T>G) c.1738T>G (p.Leu580Val) c.1918T>G (p.Leu640Val) c.1585T>G (p.Leu529Val) | |
7 | g.117591995T= | CA1737393957 | CFTR | c.1828T= (p.Leu610=) c.*1542T= (n.*1542T=) c.1645T= (p.Leu549=) c.*128T= (n.*128T=) c.*1652T= (n.*1652T=) c.1402T= (p.Leu468=) c.1402-10831T= (n.1402-10831T=) c.1738T= (p.Leu580=) c.1918T= (p.Leu640=) c.1585T= (p.Leu529=) | |
7 | g.117591996T>A | CA368978227 | CFTR | c.1829T>A (p.Leu610Ter) c.*1543T>A (n.*1543T>A) c.1646T>A (p.Leu549Ter) c.*129T>A (n.*129T>A) c.*1653T>A (n.*1653T>A) c.1403T>A (p.Leu468Ter) c.1402-10830T>A (n.1402-10830T>A) c.1739T>A (p.Leu580Ter) c.1919T>A (p.Leu640Ter) c.1586T>A (p.Leu529Ter) | |
7 | g.117591996T>C | CA326696 | CFTR | c.1829T>C (p.Leu610Ser) c.*1543T>C (n.*1543T>C) c.1646T>C (p.Leu549Ser) c.*129T>C (n.*129T>C) c.*1653T>C (n.*1653T>C) c.1403T>C (p.Leu468Ser) c.1402-10830T>C (n.1402-10830T>C) c.1739T>C (p.Leu580Ser) c.1919T>C (p.Leu640Ser) c.1586T>C (p.Leu529Ser) | ClinVar dbSNP |
7 | g.117591996T>G | CA368978230 | CFTR | c.1829T>G (p.Leu610Ter) c.*1543T>G (n.*1543T>G) c.1646T>G (p.Leu549Ter) c.*129T>G (n.*129T>G) c.*1653T>G (n.*1653T>G) c.1403T>G (p.Leu468Ter) c.1402-10830T>G (n.1402-10830T>G) c.1739T>G (p.Leu580Ter) c.1919T>G (p.Leu640Ter) c.1586T>G (p.Leu529Ter) | |
7 | g.117591996T= | CA1737393962 | CFTR | c.1829T= (p.Leu610=) c.*1543T= (n.*1543T=) c.1646T= (p.Leu549=) c.*129T= (n.*129T=) c.*1653T= (n.*1653T=) c.1403T= (p.Leu468=) c.1402-10830T= (n.1402-10830T=) c.1739T= (p.Leu580=) c.1919T= (p.Leu640=) c.1586T= (p.Leu529=) | |
7 | g.117591997A= | CA1737393970 | CFTR | c.1830A= (p.Leu610=) c.*1544A= (n.*1544A=) c.1647A= (p.Leu549=) c.*130A= (n.*130A=) c.*1654A= (n.*1654A=) c.1404A= (p.Leu468=) c.1402-10829A= (n.1402-10829A=) c.1740A= (p.Leu580=) c.1920A= (p.Leu640=) c.1587A= (p.Leu529=) | |
7 | g.117591997A>C | CA368978231 | CFTR | c.1830A>C (p.Leu610Phe) c.*1544A>C (n.*1544A>C) c.1647A>C (p.Leu549Phe) c.*130A>C (n.*130A>C) c.*1654A>C (n.*1654A>C) c.1404A>C (p.Leu468Phe) c.1402-10829A>C (n.1402-10829A>C) c.1740A>C (p.Leu580Phe) c.1920A>C (p.Leu640Phe) c.1587A>C (p.Leu529Phe) | gnomAD v4 |
7 | g.117591997A>G | CA164947489 | CFTR | c.1830A>G (p.Leu610=) c.*1544A>G (n.*1544A>G) c.1647A>G (p.Leu549=) c.*130A>G (n.*130A>G) c.*1654A>G (n.*1654A>G) c.1404A>G (p.Leu468=) c.1402-10829A>G (n.1402-10829A>G) c.1740A>G (p.Leu580=) c.1920A>G (p.Leu640=) c.1587A>G (p.Leu529=) | dbSNP |
7 | g.117591997A>T | CA368978234 | CFTR | c.1830A>T (p.Leu610Phe) c.*1544A>T (n.*1544A>T) c.1647A>T (p.Leu549Phe) c.*130A>T (n.*130A>T) c.*1654A>T (n.*1654A>T) c.1404A>T (p.Leu468Phe) c.1402-10829A>T (n.1402-10829A>T) c.1740A>T (p.Leu580Phe) c.1920A>T (p.Leu640Phe) c.1587A>T (p.Leu529Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117591998A= | CA1737393975 | CFTR | c.1831A= (p.Lys611=) c.*1545A= (n.*1545A=) c.1648A= (p.Lys550=) c.*131A= (n.*131A=) c.*1655A= (n.*1655A=) c.1405A= (p.Lys469=) c.1402-10828A= (n.1402-10828A=) c.1741A= (p.Lys581=) c.1921A= (p.Lys641=) c.1588A= (p.Lys530=) | |
7 | g.117591998A>C | CA368978236 | CFTR | c.1831A>C (p.Lys611Gln) c.*1545A>C (n.*1545A>C) c.1648A>C (p.Lys550Gln) c.*131A>C (n.*131A>C) c.*1655A>C (n.*1655A>C) c.1405A>C (p.Lys469Gln) c.1402-10828A>C (n.1402-10828A>C) c.1741A>C (p.Lys581Gln) c.1921A>C (p.Lys641Gln) c.1588A>C (p.Lys530Gln) | |
7 | g.117591998A>G | CA368978237 | CFTR | c.1831A>G (p.Lys611Glu) c.*1545A>G (n.*1545A>G) c.1648A>G (p.Lys550Glu) c.*131A>G (n.*131A>G) c.*1655A>G (n.*1655A>G) c.1405A>G (p.Lys469Glu) c.1402-10828A>G (n.1402-10828A>G) c.1741A>G (p.Lys581Glu) c.1921A>G (p.Lys641Glu) c.1588A>G (p.Lys530Glu) | |
7 | g.117591998A>T | CA368978238 | CFTR | c.1831A>T (p.Lys611Ter) c.*1545A>T (n.*1545A>T) c.1648A>T (p.Lys550Ter) c.*131A>T (n.*131A>T) c.*1655A>T (n.*1655A>T) c.1405A>T (p.Lys469Ter) c.1402-10828A>T (n.1402-10828A>T) c.1741A>T (p.Lys581Ter) c.1921A>T (p.Lys641Ter) c.1588A>T (p.Lys530Ter) | dbSNP gnomAD v2 COSMIC |
7 | g.117591999A>C | CA368978241 | CFTR | c.1832A>C (p.Lys611Thr) c.*1546A>C (n.*1546A>C) c.1649A>C (p.Lys550Thr) c.*132A>C (n.*132A>C) c.*1656A>C (n.*1656A>C) c.1406A>C (p.Lys469Thr) c.1402-10827A>C (n.1402-10827A>C) c.1742A>C (p.Lys581Thr) c.1922A>C (p.Lys641Thr) c.1589A>C (p.Lys530Thr) | |
7 | g.117591999A>G | CA368978250 | CFTR | c.1832A>G (p.Lys611Arg) c.*1546A>G (n.*1546A>G) c.1649A>G (p.Lys550Arg) c.*132A>G (n.*132A>G) c.*1656A>G (n.*1656A>G) c.1406A>G (p.Lys469Arg) c.1402-10827A>G (n.1402-10827A>G) c.1742A>G (p.Lys581Arg) c.1922A>G (p.Lys641Arg) c.1589A>G (p.Lys530Arg) | |
7 | g.117591999A>T | CA368978244 | CFTR | c.1832A>T (p.Lys611Met) c.*1546A>T (n.*1546A>T) c.1649A>T (p.Lys550Met) c.*132A>T (n.*132A>T) c.*1656A>T (n.*1656A>T) c.1406A>T (p.Lys469Met) c.1402-10827A>T (n.1402-10827A>T) c.1742A>T (p.Lys581Met) c.1922A>T (p.Lys641Met) c.1589A>T (p.Lys530Met) | |
7 | g.117592000G>A | CA457448840 | CFTR | c.1833G>A (p.Lys611=) c.*1547G>A (n.*1547G>A) c.1650G>A (p.Lys550=) c.*133G>A (n.*133G>A) c.*1657G>A (n.*1657G>A) c.1407G>A (p.Lys469=) c.1402-10826G>A (n.1402-10826G>A) c.1743G>A (p.Lys581=) c.1923G>A (p.Lys641=) c.1590G>A (p.Lys530=) | gnomAD v4 |
7 | g.117592000G>C | CA368978254 | CFTR | c.1833G>C (p.Lys611Asn) c.*1547G>C (n.*1547G>C) c.1650G>C (p.Lys550Asn) c.*133G>C (n.*133G>C) c.*1657G>C (n.*1657G>C) c.1407G>C (p.Lys469Asn) c.1402-10826G>C (n.1402-10826G>C) c.1743G>C (p.Lys581Asn) c.1923G>C (p.Lys641Asn) c.1590G>C (p.Lys530Asn) | COSMIC |
7 | g.117592000G>T | CA368978256 | CFTR | c.1833G>T (p.Lys611Asn) c.*1547G>T (n.*1547G>T) c.1650G>T (p.Lys550Asn) c.*133G>T (n.*133G>T) c.*1657G>T (n.*1657G>T) c.1407G>T (p.Lys469Asn) c.1402-10826G>T (n.1402-10826G>T) c.1743G>T (p.Lys581Asn) c.1923G>T (p.Lys641Asn) c.1590G>T (p.Lys530Asn) | |
7 | g.117592001A>C | CA368978262 | CFTR | c.1834A>C (p.Lys612Gln) c.*1548A>C (n.*1548A>C) c.1651A>C (p.Lys551Gln) c.*134A>C (n.*134A>C) c.*1658A>C (n.*1658A>C) c.1408A>C (p.Lys470Gln) c.1402-10825A>C (n.1402-10825A>C) c.1744A>C (p.Lys582Gln) c.1924A>C (p.Lys642Gln) c.1591A>C (p.Lys531Gln) | |
7 | g.117592001A>G | CA368978265 | CFTR | c.1834A>G (p.Lys612Glu) c.*1548A>G (n.*1548A>G) c.1651A>G (p.Lys551Glu) c.*134A>G (n.*134A>G) c.*1658A>G (n.*1658A>G) c.1408A>G (p.Lys470Glu) c.1402-10825A>G (n.1402-10825A>G) c.1744A>G (p.Lys582Glu) c.1924A>G (p.Lys642Glu) c.1591A>G (p.Lys531Glu) | |
7 | g.117592001A>T | CA368978268 | CFTR | c.1834A>T (p.Lys612Ter) c.*1548A>T (n.*1548A>T) c.1651A>T (p.Lys551Ter) c.*134A>T (n.*134A>T) c.*1658A>T (n.*1658A>T) c.1408A>T (p.Lys470Ter) c.1402-10825A>T (n.1402-10825A>T) c.1744A>T (p.Lys582Ter) c.1924A>T (p.Lys642Ter) c.1591A>T (p.Lys531Ter) | |
7 | g.117592002A>C | CA368978269 | CFTR | c.1835A>C (p.Lys612Thr) c.*1549A>C (n.*1549A>C) c.1652A>C (p.Lys551Thr) c.*135A>C (n.*135A>C) c.*1659A>C (n.*1659A>C) c.1409A>C (p.Lys470Thr) c.1402-10824A>C (n.1402-10824A>C) c.1745A>C (p.Lys582Thr) c.1925A>C (p.Lys642Thr) c.1592A>C (p.Lys531Thr) | |
7 | g.117592002A>G | CA368978270 | CFTR | c.1835A>G (p.Lys612Arg) c.*1549A>G (n.*1549A>G) c.1652A>G (p.Lys551Arg) c.*135A>G (n.*135A>G) c.*1659A>G (n.*1659A>G) c.1409A>G (p.Lys470Arg) c.1402-10824A>G (n.1402-10824A>G) c.1745A>G (p.Lys582Arg) c.1925A>G (p.Lys642Arg) c.1592A>G (p.Lys531Arg) | |
7 | g.117592002A>T | CA368978272 | CFTR | c.1835A>T (p.Lys612Ile) c.*1549A>T (n.*1549A>T) c.1652A>T (p.Lys551Ile) c.*135A>T (n.*135A>T) c.*1659A>T (n.*1659A>T) c.1409A>T (p.Lys470Ile) c.1402-10824A>T (n.1402-10824A>T) c.1745A>T (p.Lys582Ile) c.1925A>T (p.Lys642Ile) c.1592A>T (p.Lys531Ile) | |
7 | g.117592003A>C | CA368978278 | CFTR | c.1836A>C (p.Lys612Asn) c.*1550A>C (n.*1550A>C) c.1653A>C (p.Lys551Asn) c.*136A>C (n.*136A>C) c.*1660A>C (n.*1660A>C) c.1410A>C (p.Lys470Asn) c.1402-10823A>C (n.1402-10823A>C) c.1746A>C (p.Lys582Asn) c.1926A>C (p.Lys642Asn) c.1593A>C (p.Lys531Asn) | |
7 | g.117592003A>G | CA457448841 | CFTR | c.1836A>G (p.Lys612=) c.*1550A>G (n.*1550A>G) c.1653A>G (p.Lys551=) c.*136A>G (n.*136A>G) c.*1660A>G (n.*1660A>G) c.1410A>G (p.Lys470=) c.1402-10823A>G (n.1402-10823A>G) c.1746A>G (p.Lys582=) c.1926A>G (p.Lys642=) c.1593A>G (p.Lys531=) | |
7 | g.117592003A>T | CA368978275 | CFTR | c.1836A>T (p.Lys612Asn) c.*1550A>T (n.*1550A>T) c.1653A>T (p.Lys551Asn) c.*136A>T (n.*136A>T) c.*1660A>T (n.*1660A>T) c.1410A>T (p.Lys470Asn) c.1402-10823A>T (n.1402-10823A>T) c.1746A>T (p.Lys582Asn) c.1926A>T (p.Lys642Asn) c.1593A>T (p.Lys531Asn) | |
7 | g.117592004G>A | CA326697 | CFTR | c.1837G>A (p.Ala613Thr) c.*1551G>A (n.*1551G>A) c.1654G>A (p.Ala552Thr) c.*137G>A (n.*137G>A) c.*1661G>A (n.*1661G>A) c.1411G>A (p.Ala471Thr) c.1402-10822G>A (n.1402-10822G>A) c.1747G>A (p.Ala583Thr) c.1927G>A (p.Ala643Thr) c.1594G>A (p.Ala532Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592004G>C | CA368978283 | CFTR | c.1837G>C (p.Ala613Pro) c.*1551G>C (n.*1551G>C) c.1654G>C (p.Ala552Pro) c.*137G>C (n.*137G>C) c.*1661G>C (n.*1661G>C) c.1411G>C (p.Ala471Pro) c.1402-10822G>C (n.1402-10822G>C) c.1747G>C (p.Ala583Pro) c.1927G>C (p.Ala643Pro) c.1594G>C (p.Ala532Pro) | |
7 | g.117592004G= | CA1737393982 | CFTR | c.1837G= (p.Ala613=) c.*1551G= (n.*1551G=) c.1654G= (p.Ala552=) c.*137G= (n.*137G=) c.*1661G= (n.*1661G=) c.1411G= (p.Ala471=) c.1402-10822G= (n.1402-10822G=) c.1747G= (p.Ala583=) c.1927G= (p.Ala643=) c.1594G= (p.Ala532=) | |
7 | g.117592004G>T | CA368978285 | CFTR | c.1837G>T (p.Ala613Ser) c.*1551G>T (n.*1551G>T) c.1654G>T (p.Ala552Ser) c.*137G>T (n.*137G>T) c.*1661G>T (n.*1661G>T) c.1411G>T (p.Ala471Ser) c.1402-10822G>T (n.1402-10822G>T) c.1747G>T (p.Ala583Ser) c.1927G>T (p.Ala643Ser) c.1594G>T (p.Ala532Ser) | |
7 | g.117592005C>A | CA368978287 | CFTR | c.1838C>A (p.Ala613Asp) c.*1552C>A (n.*1552C>A) c.1655C>A (p.Ala552Asp) c.*138C>A (n.*138C>A) c.*1662C>A (n.*1662C>A) c.1412C>A (p.Ala471Asp) c.1402-10821C>A (n.1402-10821C>A) c.1748C>A (p.Ala583Asp) c.1928C>A (p.Ala643Asp) c.1595C>A (p.Ala532Asp) | gnomAD v4 |
7 | g.117592005C>G | CA368978290 | CFTR | c.1838C>G (p.Ala613Gly) c.*1552C>G (n.*1552C>G) c.1655C>G (p.Ala552Gly) c.*138C>G (n.*138C>G) c.*1662C>G (n.*1662C>G) c.1412C>G (p.Ala471Gly) c.1402-10821C>G (n.1402-10821C>G) c.1748C>G (p.Ala583Gly) c.1928C>G (p.Ala643Gly) c.1595C>G (p.Ala532Gly) | |
7 | g.117592005C>T | CA368978297 | CFTR | c.1838C>T (p.Ala613Val) c.*1552C>T (n.*1552C>T) c.1655C>T (p.Ala552Val) c.*138C>T (n.*138C>T) c.*1662C>T (n.*1662C>T) c.1412C>T (p.Ala471Val) c.1402-10821C>T (n.1402-10821C>T) c.1748C>T (p.Ala583Val) c.1928C>T (p.Ala643Val) c.1595C>T (p.Ala532Val) | |
7 | g.117592006T>A | CA457448842 | CFTR | c.1839T>A (p.Ala613=) c.*1553T>A (n.*1553T>A) c.1656T>A (p.Ala552=) c.*139T>A (n.*139T>A) c.*1663T>A (n.*1663T>A) c.1413T>A (p.Ala471=) c.1402-10820T>A (n.1402-10820T>A) c.1749T>A (p.Ala583=) c.1929T>A (p.Ala643=) c.1596T>A (p.Ala532=) | |
7 | g.117592006T>C | CA457448843 | CFTR | c.1839T>C (p.Ala613=) c.*1553T>C (n.*1553T>C) c.1656T>C (p.Ala552=) c.*139T>C (n.*139T>C) c.*1663T>C (n.*1663T>C) c.1413T>C (p.Ala471=) c.1402-10820T>C (n.1402-10820T>C) c.1749T>C (p.Ala583=) c.1929T>C (p.Ala643=) c.1596T>C (p.Ala532=) | |
7 | g.117592006T>G | CA457448844 | CFTR | c.1839T>G (p.Ala613=) c.*1553T>G (n.*1553T>G) c.1656T>G (p.Ala552=) c.*139T>G (n.*139T>G) c.*1663T>G (n.*1663T>G) c.1413T>G (p.Ala471=) c.1402-10820T>G (n.1402-10820T>G) c.1749T>G (p.Ala583=) c.1929T>G (p.Ala643=) c.1596T>G (p.Ala532=) | |
7 | g.117592007G>A | CA368978302 | CFTR | c.1840G>A (p.Asp614Asn) c.*1554G>A (n.*1554G>A) c.1657G>A (p.Asp553Asn) c.*140G>A (n.*140G>A) c.*1664G>A (n.*1664G>A) c.1414G>A (p.Asp472Asn) c.1402-10819G>A (n.1402-10819G>A) c.1750G>A (p.Asp584Asn) c.1930G>A (p.Asp644Asn) c.1597G>A (p.Asp533Asn) | ClinVar dbSNP |
7 | g.117592007G>C | CA368978308 | CFTR | c.1840G>C (p.Asp614His) c.*1554G>C (n.*1554G>C) c.1657G>C (p.Asp553His) c.*140G>C (n.*140G>C) c.*1664G>C (n.*1664G>C) c.1414G>C (p.Asp472His) c.1402-10819G>C (n.1402-10819G>C) c.1750G>C (p.Asp584His) c.1930G>C (p.Asp644His) c.1597G>C (p.Asp533His) | |
7 | g.117592007G= | CA1737393991 | CFTR | c.1840G= (p.Asp614=) c.*1554G= (n.*1554G=) c.1657G= (p.Asp553=) c.*140G= (n.*140G=) c.*1664G= (n.*1664G=) c.1414G= (p.Asp472=) c.1402-10819G= (n.1402-10819G=) c.1750G= (p.Asp584=) c.1930G= (p.Asp644=) c.1597G= (p.Asp533=) | |
7 | g.117592007G>T | CA326698 | CFTR | c.1840G>T (p.Asp614Tyr) c.*1554G>T (n.*1554G>T) c.1657G>T (p.Asp553Tyr) c.*140G>T (n.*140G>T) c.*1664G>T (n.*1664G>T) c.1414G>T (p.Asp472Tyr) c.1402-10819G>T (n.1402-10819G>T) c.1750G>T (p.Asp584Tyr) c.1930G>T (p.Asp644Tyr) c.1597G>T (p.Asp533Tyr) | dbSNP gnomAD v4 |
7 | g.117592008A= | CA1737393996 | CFTR | c.1841A= (p.Asp614=) c.*1555A= (n.*1555A=) c.1658A= (p.Asp553=) c.*141A= (n.*141A=) c.*1665A= (n.*1665A=) c.1415A= (p.Asp472=) c.1402-10818A= (n.1402-10818A=) c.1751A= (p.Asp584=) c.1931A= (p.Asp644=) c.1598A= (p.Asp533=) | |
7 | g.117592008A>C | CA368978314 | CFTR | c.1841A>C (p.Asp614Ala) c.*1555A>C (n.*1555A>C) c.1658A>C (p.Asp553Ala) c.*141A>C (n.*141A>C) c.*1665A>C (n.*1665A>C) c.1415A>C (p.Asp472Ala) c.1402-10818A>C (n.1402-10818A>C) c.1751A>C (p.Asp584Ala) c.1931A>C (p.Asp644Ala) c.1598A>C (p.Asp533Ala) | |
7 | g.117592008A>G | CA326700 | CFTR | c.1841A>G (p.Asp614Gly) c.*1555A>G (n.*1555A>G) c.1658A>G (p.Asp553Gly) c.*141A>G (n.*141A>G) c.*1665A>G (n.*1665A>G) c.1415A>G (p.Asp472Gly) c.1402-10818A>G (n.1402-10818A>G) c.1751A>G (p.Asp584Gly) c.1931A>G (p.Asp644Gly) c.1598A>G (p.Asp533Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592008A>T | CA368978322 | CFTR | c.1841A>T (p.Asp614Val) c.*1555A>T (n.*1555A>T) c.1658A>T (p.Asp553Val) c.*141A>T (n.*141A>T) c.*1665A>T (n.*1665A>T) c.1415A>T (p.Asp472Val) c.1402-10818A>T (n.1402-10818A>T) c.1751A>T (p.Asp584Val) c.1931A>T (p.Asp644Val) c.1598A>T (p.Asp533Val) | |
7 | g.117592009C>A | CA368978339 | CFTR | c.1842C>A (p.Asp614Glu) c.*1556C>A (n.*1556C>A) c.1659C>A (p.Asp553Glu) c.*142C>A (n.*142C>A) c.*1666C>A (n.*1666C>A) c.1416C>A (p.Asp472Glu) c.1402-10817C>A (n.1402-10817C>A) c.1752C>A (p.Asp584Glu) c.1932C>A (p.Asp644Glu) c.1599C>A (p.Asp533Glu) | ClinVar |
7 | g.117592009C>G | CA368978346 | CFTR | c.1842C>G (p.Asp614Glu) c.*1556C>G (n.*1556C>G) c.1659C>G (p.Asp553Glu) c.*142C>G (n.*142C>G) c.*1666C>G (n.*1666C>G) c.1416C>G (p.Asp472Glu) c.1402-10817C>G (n.1402-10817C>G) c.1752C>G (p.Asp584Glu) c.1932C>G (p.Asp644Glu) c.1599C>G (p.Asp533Glu) | |
7 | g.117592009C>T | CA457448845 | CFTR | c.1842C>T (p.Asp614=) c.*1556C>T (n.*1556C>T) c.1659C>T (p.Asp553=) c.*142C>T (n.*142C>T) c.*1666C>T (n.*1666C>T) c.1416C>T (p.Asp472=) c.1402-10817C>T (n.1402-10817C>T) c.1752C>T (p.Asp584=) c.1932C>T (p.Asp644=) c.1599C>T (p.Asp533=) | |
7 | g.117592010A>C | CA368978352 | CFTR | c.1843A>C (p.Lys615Gln) c.*1557A>C (n.*1557A>C) c.1660A>C (p.Lys554Gln) c.*143A>C (n.*143A>C) c.*1667A>C (n.*1667A>C) c.1417A>C (p.Lys473Gln) c.1402-10816A>C (n.1402-10816A>C) c.1753A>C (p.Lys585Gln) c.1933A>C (p.Lys645Gln) c.1600A>C (p.Lys534Gln) | |
7 | g.117592010A>G | CA368978357 | CFTR | c.1843A>G (p.Lys615Glu) c.*1557A>G (n.*1557A>G) c.1660A>G (p.Lys554Glu) c.*143A>G (n.*143A>G) c.*1667A>G (n.*1667A>G) c.1417A>G (p.Lys473Glu) c.1402-10816A>G (n.1402-10816A>G) c.1753A>G (p.Lys585Glu) c.1933A>G (p.Lys645Glu) c.1600A>G (p.Lys534Glu) | |
7 | g.117592010A>T | CA368978358 | CFTR | c.1843A>T (p.Lys615Ter) c.*1557A>T (n.*1557A>T) c.1660A>T (p.Lys554Ter) c.*143A>T (n.*143A>T) c.*1667A>T (n.*1667A>T) c.1417A>T (p.Lys473Ter) c.1402-10816A>T (n.1402-10816A>T) c.1753A>T (p.Lys585Ter) c.1933A>T (p.Lys645Ter) c.1600A>T (p.Lys534Ter) | |
7 | g.117592011A>C | CA368978361 | CFTR | c.1844A>C (p.Lys615Thr) c.*1558A>C (n.*1558A>C) c.1661A>C (p.Lys554Thr) c.*144A>C (n.*144A>C) c.*1668A>C (n.*1668A>C) c.1418A>C (p.Lys473Thr) c.1402-10815A>C (n.1402-10815A>C) c.1754A>C (p.Lys585Thr) c.1934A>C (p.Lys645Thr) c.1601A>C (p.Lys534Thr) | gnomAD v4 |
7 | g.117592011A>G | CA368978363 | CFTR | c.1844A>G (p.Lys615Arg) c.*1558A>G (n.*1558A>G) c.1661A>G (p.Lys554Arg) c.*144A>G (n.*144A>G) c.*1668A>G (n.*1668A>G) c.1418A>G (p.Lys473Arg) c.1402-10815A>G (n.1402-10815A>G) c.1754A>G (p.Lys585Arg) c.1934A>G (p.Lys645Arg) c.1601A>G (p.Lys534Arg) | ClinVar |
7 | g.117592011A>T | CA368978367 | CFTR | c.1844A>T (p.Lys615Ile) c.*1558A>T (n.*1558A>T) c.1661A>T (p.Lys554Ile) c.*144A>T (n.*144A>T) c.*1668A>T (n.*1668A>T) c.1418A>T (p.Lys473Ile) c.1402-10815A>T (n.1402-10815A>T) c.1754A>T (p.Lys585Ile) c.1934A>T (p.Lys645Ile) c.1601A>T (p.Lys534Ile) | |
7 | g.117592012A= | CA1737394002 | CFTR | c.1845A= (p.Lys615=) c.*1559A= (n.*1559A=) c.1662A= (p.Lys554=) c.*145A= (n.*145A=) c.*1669A= (n.*1669A=) c.1419A= (p.Lys473=) c.1402-10814A= (n.1402-10814A=) c.1755A= (p.Lys585=) c.1935A= (p.Lys645=) c.1602A= (p.Lys534=) | |
7 | g.117592012A>C | CA368978369 | CFTR | c.1845A>C (p.Lys615Asn) c.*1559A>C (n.*1559A>C) c.1662A>C (p.Lys554Asn) c.*145A>C (n.*145A>C) c.*1669A>C (n.*1669A>C) c.1419A>C (p.Lys473Asn) c.1402-10814A>C (n.1402-10814A>C) c.1755A>C (p.Lys585Asn) c.1935A>C (p.Lys645Asn) c.1602A>C (p.Lys534Asn) | |
7 | g.117592012A>G | CA457448846 | CFTR | c.1845A>G (p.Lys615=) c.*1559A>G (n.*1559A>G) c.1662A>G (p.Lys554=) c.*145A>G (n.*145A>G) c.*1669A>G (n.*1669A>G) c.1419A>G (p.Lys473=) c.1402-10814A>G (n.1402-10814A>G) c.1755A>G (p.Lys585=) c.1935A>G (p.Lys645=) c.1602A>G (p.Lys534=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592012A>T | CA368978372 | CFTR | c.1845A>T (p.Lys615Asn) c.*1559A>T (n.*1559A>T) c.1662A>T (p.Lys554Asn) c.*145A>T (n.*145A>T) c.*1669A>T (n.*1669A>T) c.1419A>T (p.Lys473Asn) c.1402-10814A>T (n.1402-10814A>T) c.1755A>T (p.Lys585Asn) c.1935A>T (p.Lys645Asn) c.1602A>T (p.Lys534Asn) | |
7 | g.117592013A= | CA1737394007 | CFTR | c.1846A= (p.Ile616=) c.*1560A= (n.*1560A=) c.1663A= (p.Ile555=) c.*146A= (n.*146A=) c.*1670A= (n.*1670A=) c.1420A= (p.Ile474=) c.1402-10813A= (n.1402-10813A=) c.1756A= (p.Ile586=) c.1936A= (p.Ile646=) c.1603A= (p.Ile535=) | |
7 | g.117592013A>C | CA368978375 | CFTR | c.1846A>C (p.Ile616Leu) c.*1560A>C (n.*1560A>C) c.1663A>C (p.Ile555Leu) c.*146A>C (n.*146A>C) c.*1670A>C (n.*1670A>C) c.1420A>C (p.Ile474Leu) c.1402-10813A>C (n.1402-10813A>C) c.1756A>C (p.Ile586Leu) c.1936A>C (p.Ile646Leu) c.1603A>C (p.Ile535Leu) | |
7 | g.117592013A>G | CA4451104 | CFTR | c.1846A>G (p.Ile616Val) c.*1560A>G (n.*1560A>G) c.1663A>G (p.Ile555Val) c.*146A>G (n.*146A>G) c.*1670A>G (n.*1670A>G) c.1420A>G (p.Ile474Val) c.1402-10813A>G (n.1402-10813A>G) c.1756A>G (p.Ile586Val) c.1936A>G (p.Ile646Val) c.1603A>G (p.Ile535Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592013A>T | CA368978380 | CFTR | c.1846A>T (p.Ile616Leu) c.*1560A>T (n.*1560A>T) c.1663A>T (p.Ile555Leu) c.*146A>T (n.*146A>T) c.*1670A>T (n.*1670A>T) c.1420A>T (p.Ile474Leu) c.1402-10813A>T (n.1402-10813A>T) c.1756A>T (p.Ile586Leu) c.1936A>T (p.Ile646Leu) c.1603A>T (p.Ile535Leu) | |
7 | g.117592014T>A | CA368978385 | CFTR | c.1847T>A (p.Ile616Lys) c.*1561T>A (n.*1561T>A) c.1664T>A (p.Ile555Lys) c.*147T>A (n.*147T>A) c.*1671T>A (n.*1671T>A) c.1421T>A (p.Ile474Lys) c.1402-10812T>A (n.1402-10812T>A) c.1757T>A (p.Ile586Lys) c.1937T>A (p.Ile646Lys) c.1604T>A (p.Ile535Lys) | |
7 | g.117592014T>C | CA368978389 | CFTR | c.1847T>C (p.Ile616Thr) c.*1561T>C (n.*1561T>C) c.1664T>C (p.Ile555Thr) c.*147T>C (n.*147T>C) c.*1671T>C (n.*1671T>C) c.1421T>C (p.Ile474Thr) c.1402-10812T>C (n.1402-10812T>C) c.1757T>C (p.Ile586Thr) c.1937T>C (p.Ile646Thr) c.1604T>C (p.Ile535Thr) | ClinVar gnomAD v4 |
7 | g.117592014T>G | CA368978391 | CFTR | c.1847T>G (p.Ile616Arg) c.*1561T>G (n.*1561T>G) c.1664T>G (p.Ile555Arg) c.*147T>G (n.*147T>G) c.*1671T>G (n.*1671T>G) c.1421T>G (p.Ile474Arg) c.1402-10812T>G (n.1402-10812T>G) c.1757T>G (p.Ile586Arg) c.1937T>G (p.Ile646Arg) c.1604T>G (p.Ile535Arg) | |
7 | g.117592016_117592018del | CA2580076501 | CFTR | c.1849_1851del (p.Leu617del) c.*1563_*1565del (n.*1563_*1565del) c.1666_1668del (p.Leu556del) c.*149_*151del (n.*149_*151del) c.*1673_*1675del (n.*1673_*1675del) c.1423_1425del (p.Leu475del) c.1402-10810_1402-10808del (n.1402-10810_1402-10808del) c.1759_1761del (p.Leu587del) c.1939_1941del (p.Leu647del) c.1606_1608del (p.Leu536del) | ClinVar |
7 | g.117592015A>C | CA457448847 | CFTR | c.1848A>C (p.Ile616=) c.*1562A>C (n.*1562A>C) c.1665A>C (p.Ile555=) c.*148A>C (n.*148A>C) c.*1672A>C (n.*1672A>C) c.1422A>C (p.Ile474=) c.1402-10811A>C (n.1402-10811A>C) c.1758A>C (p.Ile586=) c.1938A>C (p.Ile646=) c.1605A>C (p.Ile535=) | |
7 | g.117592015A>G | CA368978394 | CFTR | c.1848A>G (p.Ile616Met) c.*1562A>G (n.*1562A>G) c.1665A>G (p.Ile555Met) c.*148A>G (n.*148A>G) c.*1672A>G (n.*1672A>G) c.1422A>G (p.Ile474Met) c.1402-10811A>G (n.1402-10811A>G) c.1758A>G (p.Ile586Met) c.1938A>G (p.Ile646Met) c.1605A>G (p.Ile535Met) | ClinVar |
7 | g.117592015A>T | CA457448848 | CFTR | c.1848A>T (p.Ile616=) c.*1562A>T (n.*1562A>T) c.1665A>T (p.Ile555=) c.*148A>T (n.*148A>T) c.*1672A>T (n.*1672A>T) c.1422A>T (p.Ile474=) c.1402-10811A>T (n.1402-10811A>T) c.1758A>T (p.Ile586=) c.1938A>T (p.Ile646=) c.1605A>T (p.Ile535=) | |
7 | g.117592016T>A | CA368978404 | CFTR | c.1849T>A (p.Leu617Ile) c.*1563T>A (n.*1563T>A) c.1666T>A (p.Leu556Ile) c.*149T>A (n.*149T>A) c.*1673T>A (n.*1673T>A) c.1423T>A (p.Leu475Ile) c.1402-10810T>A (n.1402-10810T>A) c.1759T>A (p.Leu587Ile) c.1939T>A (p.Leu647Ile) c.1606T>A (p.Leu536Ile) | |
7 | g.117592016T>C | CA457448849 | CFTR | c.1849T>C (p.Leu617=) c.*1563T>C (n.*1563T>C) c.1666T>C (p.Leu556=) c.*149T>C (n.*149T>C) c.*1673T>C (n.*1673T>C) c.1423T>C (p.Leu475=) c.1402-10810T>C (n.1402-10810T>C) c.1759T>C (p.Leu587=) c.1939T>C (p.Leu647=) c.1606T>C (p.Leu536=) | |
7 | g.117592016T>G | CA368978407 | CFTR | c.1849T>G (p.Leu617Val) c.*1563T>G (n.*1563T>G) c.1666T>G (p.Leu556Val) c.*149T>G (n.*149T>G) c.*1673T>G (n.*1673T>G) c.1423T>G (p.Leu475Val) c.1402-10810T>G (n.1402-10810T>G) c.1759T>G (p.Leu587Val) c.1939T>G (p.Leu647Val) c.1606T>G (p.Leu536Val) | |
7 | g.117592017T>A | CA368978411 | CFTR | c.1850T>A (p.Leu617Ter) c.*1564T>A (n.*1564T>A) c.1667T>A (p.Leu556Ter) c.*150T>A (n.*150T>A) c.*1674T>A (n.*1674T>A) c.1424T>A (p.Leu475Ter) c.1402-10809T>A (n.1402-10809T>A) c.1760T>A (p.Leu587Ter) c.1940T>A (p.Leu647Ter) c.1607T>A (p.Leu536Ter) | |
7 | g.117592017T>C | CA368978413 | CFTR | c.1850T>C (p.Leu617Ser) c.*1564T>C (n.*1564T>C) c.1667T>C (p.Leu556Ser) c.*150T>C (n.*150T>C) c.*1674T>C (n.*1674T>C) c.1424T>C (p.Leu475Ser) c.1402-10809T>C (n.1402-10809T>C) c.1760T>C (p.Leu587Ser) c.1940T>C (p.Leu647Ser) c.1607T>C (p.Leu536Ser) | |
7 | g.117592017T>G | CA368978414 | CFTR | c.1850T>G (p.Leu617Ter) c.*1564T>G (n.*1564T>G) c.1667T>G (p.Leu556Ter) c.*150T>G (n.*150T>G) c.*1674T>G (n.*1674T>G) c.1424T>G (p.Leu475Ter) c.1402-10809T>G (n.1402-10809T>G) c.1760T>G (p.Leu587Ter) c.1940T>G (p.Leu647Ter) c.1607T>G (p.Leu536Ter) | |
7 | g.117592018A= | CA1737394009 | CFTR | c.1851A= (p.Leu617=) c.*1565A= (n.*1565A=) c.1668A= (p.Leu556=) c.*151A= (n.*151A=) c.*1675A= (n.*1675A=) c.1425A= (p.Leu475=) c.1402-10808A= (n.1402-10808A=) c.1761A= (p.Leu587=) c.1941A= (p.Leu647=) c.1608A= (p.Leu536=) | |
7 | g.117592018A>C | CA368978418 | CFTR | c.1851A>C (p.Leu617Phe) c.*1565A>C (n.*1565A>C) c.1668A>C (p.Leu556Phe) c.*151A>C (n.*151A>C) c.*1675A>C (n.*1675A>C) c.1425A>C (p.Leu475Phe) c.1402-10808A>C (n.1402-10808A>C) c.1761A>C (p.Leu587Phe) c.1941A>C (p.Leu647Phe) c.1608A>C (p.Leu536Phe) | |
7 | g.117592018A>G | CA457448850 | CFTR | c.1851A>G (p.Leu617=) c.*1565A>G (n.*1565A>G) c.1668A>G (p.Leu556=) c.*151A>G (n.*151A>G) c.*1675A>G (n.*1675A>G) c.1425A>G (p.Leu475=) c.1402-10808A>G (n.1402-10808A>G) c.1761A>G (p.Leu587=) c.1941A>G (p.Leu647=) c.1608A>G (p.Leu536=) | |
7 | g.117592018A>T | CA4451105 | CFTR | c.1851A>T (p.Leu617Phe) c.*1565A>T (n.*1565A>T) c.1668A>T (p.Leu556Phe) c.*151A>T (n.*151A>T) c.*1675A>T (n.*1675A>T) c.1425A>T (p.Leu475Phe) c.1402-10808A>T (n.1402-10808A>T) c.1761A>T (p.Leu587Phe) c.1941A>T (p.Leu647Phe) c.1608A>T (p.Leu536Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592020_117592030del | CA2695208503 | CFTR | c.1853_1863del (p.Ile618ArgfsTer2) c.*1567_*1577del (n.*1567_*1577del) c.1670_1680del (p.Ile557ArgfsTer2) c.*153_*163del (n.*153_*163del) c.*1677_*1687del (n.*1677_*1687del) c.1427_1437del (p.Ile476ArgfsTer2) c.1402-10806_1402-10796del (n.1402-10806_1402-10796del) c.1763_1773del (p.Ile588ArgfsTer2) c.1943_1953del (p.Ile648ArgfsTer2) c.1610_1620del (p.Ile537ArgfsTer2) | |
7 | g.117592019A= | CA1737394013 | CFTR | c.1852A= (p.Ile618=) c.*1566A= (n.*1566A=) c.1669A= (p.Ile557=) c.*152A= (n.*152A=) c.*1676A= (n.*1676A=) c.1426A= (p.Ile476=) c.1402-10807A= (n.1402-10807A=) c.1762A= (p.Ile588=) c.1942A= (p.Ile648=) c.1609A= (p.Ile537=) | |
7 | g.117592019A>C | CA368978426 | CFTR | c.1852A>C (p.Ile618Leu) c.*1566A>C (n.*1566A>C) c.1669A>C (p.Ile557Leu) c.*152A>C (n.*152A>C) c.*1676A>C (n.*1676A>C) c.1426A>C (p.Ile476Leu) c.1402-10807A>C (n.1402-10807A>C) c.1762A>C (p.Ile588Leu) c.1942A>C (p.Ile648Leu) c.1609A>C (p.Ile537Leu) | |
7 | g.117592019A>G | CA368978430 | CFTR | c.1852A>G (p.Ile618Val) c.*1566A>G (n.*1566A>G) c.1669A>G (p.Ile557Val) c.*152A>G (n.*152A>G) c.*1676A>G (n.*1676A>G) c.1426A>G (p.Ile476Val) c.1402-10807A>G (n.1402-10807A>G) c.1762A>G (p.Ile588Val) c.1942A>G (p.Ile648Val) c.1609A>G (p.Ile537Val) | dbSNP |
7 | g.117592019A>T | CA368978428 | CFTR | c.1852A>T (p.Ile618Phe) c.*1566A>T (n.*1566A>T) c.1669A>T (p.Ile557Phe) c.*152A>T (n.*152A>T) c.*1676A>T (n.*1676A>T) c.1426A>T (p.Ile476Phe) c.1402-10807A>T (n.1402-10807A>T) c.1762A>T (p.Ile588Phe) c.1942A>T (p.Ile648Phe) c.1609A>T (p.Ile537Phe) | |
7 | g.117592020T>A | CA368978433 | CFTR | c.1853T>A (p.Ile618Asn) c.*1567T>A (n.*1567T>A) c.1670T>A (p.Ile557Asn) c.*153T>A (n.*153T>A) c.*1677T>A (n.*1677T>A) c.1427T>A (p.Ile476Asn) c.1402-10806T>A (n.1402-10806T>A) c.1763T>A (p.Ile588Asn) c.1943T>A (p.Ile648Asn) c.1610T>A (p.Ile537Asn) | |
7 | g.117592020T>C | CA221010 | CFTR | c.1853T>C (p.Ile618Thr) c.*1567T>C (n.*1567T>C) c.1670T>C (p.Ile557Thr) c.*153T>C (n.*153T>C) c.*1677T>C (n.*1677T>C) c.1427T>C (p.Ile476Thr) c.1402-10806T>C (n.1402-10806T>C) c.1763T>C (p.Ile588Thr) c.1943T>C (p.Ile648Thr) c.1610T>C (p.Ile537Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592020T>G | CA368978438 | CFTR | c.1853T>G (p.Ile618Ser) c.*1567T>G (n.*1567T>G) c.1670T>G (p.Ile557Ser) c.*153T>G (n.*153T>G) c.*1677T>G (n.*1677T>G) c.1427T>G (p.Ile476Ser) c.1402-10806T>G (n.1402-10806T>G) c.1763T>G (p.Ile588Ser) c.1943T>G (p.Ile648Ser) c.1610T>G (p.Ile537Ser) | |
7 | g.117592020T= | CA1737394020 | CFTR | c.1853T= (p.Ile618=) c.*1567T= (n.*1567T=) c.1670T= (p.Ile557=) c.*153T= (n.*153T=) c.*1677T= (n.*1677T=) c.1427T= (p.Ile476=) c.1402-10806T= (n.1402-10806T=) c.1763T= (p.Ile588=) c.1943T= (p.Ile648=) c.1610T= (p.Ile537=) | |
7 | g.117592021T>A | CA457448851 | CFTR | c.1854T>A (p.Ile618=) c.*1568T>A (n.*1568T>A) c.1671T>A (p.Ile557=) c.*154T>A (n.*154T>A) c.*1678T>A (n.*1678T>A) c.1428T>A (p.Ile476=) c.1402-10805T>A (n.1402-10805T>A) c.1764T>A (p.Ile588=) c.1944T>A (p.Ile648=) c.1611T>A (p.Ile537=) | |
7 | g.117592021T>C | CA457448852 | CFTR | c.1854T>C (p.Ile618=) c.*1568T>C (n.*1568T>C) c.1671T>C (p.Ile557=) c.*154T>C (n.*154T>C) c.*1678T>C (n.*1678T>C) c.1428T>C (p.Ile476=) c.1402-10805T>C (n.1402-10805T>C) c.1764T>C (p.Ile588=) c.1944T>C (p.Ile648=) c.1611T>C (p.Ile537=) | |
7 | g.117592021T>G | CA368978442 | CFTR | c.1854T>G (p.Ile618Met) c.*1568T>G (n.*1568T>G) c.1671T>G (p.Ile557Met) c.*154T>G (n.*154T>G) c.*1678T>G (n.*1678T>G) c.1428T>G (p.Ile476Met) c.1402-10805T>G (n.1402-10805T>G) c.1764T>G (p.Ile588Met) c.1944T>G (p.Ile648Met) c.1611T>G (p.Ile537Met) | |
7 | g.117592022T>A | CA368978445 | CFTR | c.1855T>A (p.Leu619Met) c.*1569T>A (n.*1569T>A) c.1672T>A (p.Leu558Met) c.*155T>A (n.*155T>A) c.*1679T>A (n.*1679T>A) c.1429T>A (p.Leu477Met) c.1402-10804T>A (n.1402-10804T>A) c.1765T>A (p.Leu589Met) c.1945T>A (p.Leu649Met) c.1612T>A (p.Leu538Met) | |
7 | g.117592022T>C | CA457448853 | CFTR | c.1855T>C (p.Leu619=) c.*1569T>C (n.*1569T>C) c.1672T>C (p.Leu558=) c.*155T>C (n.*155T>C) c.*1679T>C (n.*1679T>C) c.1429T>C (p.Leu477=) c.1402-10804T>C (n.1402-10804T>C) c.1765T>C (p.Leu589=) c.1945T>C (p.Leu649=) c.1612T>C (p.Leu538=) | |
7 | g.117592022T>G | CA368978448 | CFTR | c.1855T>G (p.Leu619Val) c.*1569T>G (n.*1569T>G) c.1672T>G (p.Leu558Val) c.*155T>G (n.*155T>G) c.*1679T>G (n.*1679T>G) c.1429T>G (p.Leu477Val) c.1402-10804T>G (n.1402-10804T>G) c.1765T>G (p.Leu589Val) c.1945T>G (p.Leu649Val) c.1612T>G (p.Leu538Val) | |
7 | g.117592023T>A | CA368978452 | CFTR | c.1856T>A (p.Leu619Ter) c.*1570T>A (n.*1570T>A) c.1673T>A (p.Leu558Ter) c.*156T>A (n.*156T>A) c.*1680T>A (n.*1680T>A) c.1430T>A (p.Leu477Ter) c.1402-10803T>A (n.1402-10803T>A) c.1766T>A (p.Leu589Ter) c.1946T>A (p.Leu649Ter) c.1613T>A (p.Leu538Ter) | |
7 | g.117592023T>C | CA326701 | CFTR | c.1856T>C (p.Leu619Ser) c.*1570T>C (n.*1570T>C) c.1673T>C (p.Leu558Ser) c.*156T>C (n.*156T>C) c.*1680T>C (n.*1680T>C) c.1430T>C (p.Leu477Ser) c.1402-10803T>C (n.1402-10803T>C) c.1766T>C (p.Leu589Ser) c.1946T>C (p.Leu649Ser) c.1613T>C (p.Leu538Ser) | ClinVar dbSNP |
7 | g.117592023T>G | CA368978459 | CFTR | c.1856T>G (p.Leu619Trp) c.*1570T>G (n.*1570T>G) c.1673T>G (p.Leu558Trp) c.*156T>G (n.*156T>G) c.*1680T>G (n.*1680T>G) c.1430T>G (p.Leu477Trp) c.1402-10803T>G (n.1402-10803T>G) c.1766T>G (p.Leu589Trp) c.1946T>G (p.Leu649Trp) c.1613T>G (p.Leu538Trp) | |
7 | g.117592023T= | CA1737394023 | CFTR | c.1856T= (p.Leu619=) c.*1570T= (n.*1570T=) c.1673T= (p.Leu558=) c.*156T= (n.*156T=) c.*1680T= (n.*1680T=) c.1430T= (p.Leu477=) c.1402-10803T= (n.1402-10803T=) c.1766T= (p.Leu589=) c.1946T= (p.Leu649=) c.1613T= (p.Leu538=) | |
7 | g.117592024G>A | CA457448854 | CFTR | c.1857G>A (p.Leu619=) c.*1571G>A (n.*1571G>A) c.1674G>A (p.Leu558=) c.*157G>A (n.*157G>A) c.*1681G>A (n.*1681G>A) c.1431G>A (p.Leu477=) c.1402-10802G>A (n.1402-10802G>A) c.1767G>A (p.Leu589=) c.1947G>A (p.Leu649=) c.1614G>A (p.Leu538=) | |
7 | g.117592024G>C | CA368978463 | CFTR | c.1857G>C (p.Leu619Phe) c.*1571G>C (n.*1571G>C) c.1674G>C (p.Leu558Phe) c.*157G>C (n.*157G>C) c.*1681G>C (n.*1681G>C) c.1431G>C (p.Leu477Phe) c.1402-10802G>C (n.1402-10802G>C) c.1767G>C (p.Leu589Phe) c.1947G>C (p.Leu649Phe) c.1614G>C (p.Leu538Phe) | |
7 | g.117592024G>T | CA368978465 | CFTR | c.1857G>T (p.Leu619Phe) c.*1571G>T (n.*1571G>T) c.1674G>T (p.Leu558Phe) c.*157G>T (n.*157G>T) c.*1681G>T (n.*1681G>T) c.1431G>T (p.Leu477Phe) c.1402-10802G>T (n.1402-10802G>T) c.1767G>T (p.Leu589Phe) c.1947G>T (p.Leu649Phe) c.1614G>T (p.Leu538Phe) | gnomAD v4 |
7 | g.117592025C>A | CA368978472 | CFTR | c.1858C>A (p.His620Asn) c.*1572C>A (n.*1572C>A) c.1675C>A (p.His559Asn) c.*158C>A (n.*158C>A) c.*1682C>A (n.*1682C>A) c.1432C>A (p.His478Asn) c.1402-10801C>A (n.1402-10801C>A) c.1768C>A (p.His590Asn) c.1948C>A (p.His650Asn) c.1615C>A (p.His539Asn) | gnomAD v4 |
7 | g.117592025C>G | CA368978474 | CFTR | c.1858C>G (p.His620Asp) c.*1572C>G (n.*1572C>G) c.1675C>G (p.His559Asp) c.*158C>G (n.*158C>G) c.*1682C>G (n.*1682C>G) c.1432C>G (p.His478Asp) c.1402-10801C>G (n.1402-10801C>G) c.1768C>G (p.His590Asp) c.1948C>G (p.His650Asp) c.1615C>G (p.His539Asp) | |
7 | g.117592025C>T | CA368978469 | CFTR | c.1858C>T (p.His620Tyr) c.*1572C>T (n.*1572C>T) c.1675C>T (p.His559Tyr) c.*158C>T (n.*158C>T) c.*1682C>T (n.*1682C>T) c.1432C>T (p.His478Tyr) c.1402-10801C>T (n.1402-10801C>T) c.1768C>T (p.His590Tyr) c.1948C>T (p.His650Tyr) c.1615C>T (p.His539Tyr) | ClinVar gnomAD v4 |
7 | g.117592026A= | CA1737394026 | CFTR | c.1859A= (p.His620=) c.*1573A= (n.*1573A=) c.1676A= (p.His559=) c.*159A= (n.*159A=) c.*1683A= (n.*1683A=) c.1433A= (p.His478=) c.1402-10800A= (n.1402-10800A=) c.1769A= (p.His590=) c.1949A= (p.His650=) c.1616A= (p.His539=) | |
7 | g.117592026A>C | CA326702 | CFTR | c.1859A>C (p.His620Pro) c.*1573A>C (n.*1573A>C) c.1676A>C (p.His559Pro) c.*159A>C (n.*159A>C) c.*1683A>C (n.*1683A>C) c.1433A>C (p.His478Pro) c.1402-10800A>C (n.1402-10800A>C) c.1769A>C (p.His590Pro) c.1949A>C (p.His650Pro) c.1616A>C (p.His539Pro) | ClinVar dbSNP gnomAD v4 |
7 | g.117592026A>G | CA4451106 | CFTR | c.1859A>G (p.His620Arg) c.*1573A>G (n.*1573A>G) c.1676A>G (p.His559Arg) c.*159A>G (n.*159A>G) c.*1683A>G (n.*1683A>G) c.1433A>G (p.His478Arg) c.1402-10800A>G (n.1402-10800A>G) c.1769A>G (p.His590Arg) c.1949A>G (p.His650Arg) c.1616A>G (p.His539Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592026A>T | CA4451107 | CFTR | c.1859A>T (p.His620Leu) c.*1573A>T (n.*1573A>T) c.1676A>T (p.His559Leu) c.*159A>T (n.*159A>T) c.*1683A>T (n.*1683A>T) c.1433A>T (p.His478Leu) c.1402-10800A>T (n.1402-10800A>T) c.1769A>T (p.His590Leu) c.1949A>T (p.His650Leu) c.1616A>T (p.His539Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592027T>A | CA368978481 | CFTR | c.1860T>A (p.His620Gln) c.*1574T>A (n.*1574T>A) c.1677T>A (p.His559Gln) c.*160T>A (n.*160T>A) c.*1684T>A (n.*1684T>A) c.1434T>A (p.His478Gln) c.1402-10799T>A (n.1402-10799T>A) c.1770T>A (p.His590Gln) c.1950T>A (p.His650Gln) c.1617T>A (p.His539Gln) | |
7 | g.117592027T>C | CA457448855 | CFTR | c.1860T>C (p.His620=) c.*1574T>C (n.*1574T>C) c.1677T>C (p.His559=) c.*160T>C (n.*160T>C) c.*1684T>C (n.*1684T>C) c.1434T>C (p.His478=) c.1402-10799T>C (n.1402-10799T>C) c.1770T>C (p.His590=) c.1950T>C (p.His650=) c.1617T>C (p.His539=) | ClinVar dbSNP |
7 | g.117592027T>G | CA326703 | CFTR | c.1860T>G (p.His620Gln) c.*1574T>G (n.*1574T>G) c.1677T>G (p.His559Gln) c.*160T>G (n.*160T>G) c.*1684T>G (n.*1684T>G) c.1434T>G (p.His478Gln) c.1402-10799T>G (n.1402-10799T>G) c.1770T>G (p.His590Gln) c.1950T>G (p.His650Gln) c.1617T>G (p.His539Gln) | ClinVar dbSNP |
7 | g.117592027T= | CA1737394035 | CFTR | c.1860T= (p.His620=) c.*1574T= (n.*1574T=) c.1677T= (p.His559=) c.*160T= (n.*160T=) c.*1684T= (n.*1684T=) c.1434T= (p.His478=) c.1402-10799T= (n.1402-10799T=) c.1770T= (p.His590=) c.1950T= (p.His650=) c.1617T= (p.His539=) | |
7 | g.117592027dup | CA2695208504 | CFTR | c.1860dup (p.Glu621Ter) c.*1574dup (n.*1574dup) c.1677dup (p.Glu560Ter) c.*160dup (n.*160dup) c.*1684dup (n.*1684dup) c.1434dup (p.Glu479Ter) c.1402-10799dup (n.1402-10799dup) c.1770dup (p.Glu591Ter) c.1950dup (p.Glu651Ter) c.1617dup (p.Glu540Ter) | |
7 | g.117592028G>A | CA368978489 | CFTR | c.1861G>A (p.Glu621Lys) c.*1575G>A (n.*1575G>A) c.1678G>A (p.Glu560Lys) c.*161G>A (n.*161G>A) c.*1685G>A (n.*1685G>A) c.1435G>A (p.Glu479Lys) c.1402-10798G>A (n.1402-10798G>A) c.1771G>A (p.Glu591Lys) c.1951G>A (p.Glu651Lys) c.1618G>A (p.Glu540Lys) | COSMIC |
7 | g.117592028G>C | CA368978490 | CFTR | c.1861G>C (p.Glu621Gln) c.*1575G>C (n.*1575G>C) c.1678G>C (p.Glu560Gln) c.*161G>C (n.*161G>C) c.*1685G>C (n.*1685G>C) c.1435G>C (p.Glu479Gln) c.1402-10798G>C (n.1402-10798G>C) c.1771G>C (p.Glu591Gln) c.1951G>C (p.Glu651Gln) c.1618G>C (p.Glu540Gln) | |
7 | g.117592028G= | CA1737394038 | CFTR | c.1861G= (p.Glu621=) c.*1575G= (n.*1575G=) c.1678G= (p.Glu560=) c.*161G= (n.*161G=) c.*1685G= (n.*1685G=) c.1435G= (p.Glu479=) c.1402-10798G= (n.1402-10798G=) c.1771G= (p.Glu591=) c.1951G= (p.Glu651=) c.1618G= (p.Glu540=) | |
7 | g.117592028G>T | CA368978491 | CFTR | c.1861G>T (p.Glu621Ter) c.*1575G>T (n.*1575G>T) c.1678G>T (p.Glu560Ter) c.*161G>T (n.*161G>T) c.*1685G>T (n.*1685G>T) c.1435G>T (p.Glu479Ter) c.1402-10798G>T (n.1402-10798G>T) c.1771G>T (p.Glu591Ter) c.1951G>T (p.Glu651Ter) c.1618G>T (p.Glu540Ter) | ClinVar dbSNP |
7 | g.117592029A= | CA1737394042 | CFTR | c.1862A= (p.Glu621=) c.*1576A= (n.*1576A=) c.1679A= (p.Glu560=) c.*162A= (n.*162A=) c.*1686A= (n.*1686A=) c.1436A= (p.Glu479=) c.1402-10797A= (n.1402-10797A=) c.1772A= (p.Glu591=) c.1952A= (p.Glu651=) c.1619A= (p.Glu540=) | |
7 | g.117592029A>C | CA368978492 | CFTR | c.1862A>C (p.Glu621Ala) c.*1576A>C (n.*1576A>C) c.1679A>C (p.Glu560Ala) c.*162A>C (n.*162A>C) c.*1686A>C (n.*1686A>C) c.1436A>C (p.Glu479Ala) c.1402-10797A>C (n.1402-10797A>C) c.1772A>C (p.Glu591Ala) c.1952A>C (p.Glu651Ala) c.1619A>C (p.Glu540Ala) | |
7 | g.117592029A>G | CA368978493 | CFTR | c.1862A>G (p.Glu621Gly) c.*1576A>G (n.*1576A>G) c.1679A>G (p.Glu560Gly) c.*162A>G (n.*162A>G) c.*1686A>G (n.*1686A>G) c.1436A>G (p.Glu479Gly) c.1402-10797A>G (n.1402-10797A>G) c.1772A>G (p.Glu591Gly) c.1952A>G (p.Glu651Gly) c.1619A>G (p.Glu540Gly) | dbSNP |
7 | g.117592029A>T | CA368978495 | CFTR | c.1862A>T (p.Glu621Val) c.*1576A>T (n.*1576A>T) c.1679A>T (p.Glu560Val) c.*162A>T (n.*162A>T) c.*1686A>T (n.*1686A>T) c.1436A>T (p.Glu479Val) c.1402-10797A>T (n.1402-10797A>T) c.1772A>T (p.Glu591Val) c.1952A>T (p.Glu651Val) c.1619A>T (p.Glu540Val) | |
7 | g.117592030A>C | CA368978498 | CFTR | c.1863A>C (p.Glu621Asp) c.*1577A>C (n.*1577A>C) c.1680A>C (p.Glu560Asp) c.*163A>C (n.*163A>C) c.*1687A>C (n.*1687A>C) c.1437A>C (p.Glu479Asp) c.1402-10796A>C (n.1402-10796A>C) c.1773A>C (p.Glu591Asp) c.1953A>C (p.Glu651Asp) c.1620A>C (p.Glu540Asp) | |
7 | g.117592030A>G | CA457448856 | CFTR | c.1863A>G (p.Glu621=) c.*1577A>G (n.*1577A>G) c.1680A>G (p.Glu560=) c.*163A>G (n.*163A>G) c.*1687A>G (n.*1687A>G) c.1437A>G (p.Glu479=) c.1402-10796A>G (n.1402-10796A>G) c.1773A>G (p.Glu591=) c.1953A>G (p.Glu651=) c.1620A>G (p.Glu540=) | ClinVar |
7 | g.117592030A>T | CA368978500 | CFTR | c.1863A>T (p.Glu621Asp) c.*1577A>T (n.*1577A>T) c.1680A>T (p.Glu560Asp) c.*163A>T (n.*163A>T) c.*1687A>T (n.*1687A>T) c.1437A>T (p.Glu479Asp) c.1402-10796A>T (n.1402-10796A>T) c.1773A>T (p.Glu591Asp) c.1953A>T (p.Glu651Asp) c.1620A>T (p.Glu540Asp) | |
7 | g.117592031G>A | CA368978503 | CFTR | c.1864G>A (p.Gly622Ser) c.*1578G>A (n.*1578G>A) c.1681G>A (p.Gly561Ser) c.*164G>A (n.*164G>A) c.*1688G>A (n.*1688G>A) c.1438G>A (p.Gly480Ser) c.1402-10795G>A (n.1402-10795G>A) c.1774G>A (p.Gly592Ser) c.1954G>A (p.Gly652Ser) c.1621G>A (p.Gly541Ser) | |
7 | g.117592031G>C | CA368978505 | CFTR | c.1864G>C (p.Gly622Arg) c.*1578G>C (n.*1578G>C) c.1681G>C (p.Gly561Arg) c.*164G>C (n.*164G>C) c.*1688G>C (n.*1688G>C) c.1438G>C (p.Gly480Arg) c.1402-10795G>C (n.1402-10795G>C) c.1774G>C (p.Gly592Arg) c.1954G>C (p.Gly652Arg) c.1621G>C (p.Gly541Arg) | |
7 | g.117592031G>T | CA368978508 | CFTR | c.1864G>T (p.Gly622Cys) c.*1578G>T (n.*1578G>T) c.1681G>T (p.Gly561Cys) c.*164G>T (n.*164G>T) c.*1688G>T (n.*1688G>T) c.1438G>T (p.Gly480Cys) c.1402-10795G>T (n.1402-10795G>T) c.1774G>T (p.Gly592Cys) c.1954G>T (p.Gly652Cys) c.1621G>T (p.Gly541Cys) | |
7 | g.117592032G>A | CA326704 | CFTR | c.1865G>A (p.Gly622Asp) c.*1579G>A (n.*1579G>A) c.1682G>A (p.Gly561Asp) c.*165G>A (n.*165G>A) c.*1689G>A (n.*1689G>A) c.1439G>A (p.Gly480Asp) c.1402-10794G>A (n.1402-10794G>A) c.1775G>A (p.Gly592Asp) c.1955G>A (p.Gly652Asp) c.1622G>A (p.Gly541Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592032G>C | CA368978514 | CFTR | c.1865G>C (p.Gly622Ala) c.*1579G>C (n.*1579G>C) c.1682G>C (p.Gly561Ala) c.*165G>C (n.*165G>C) c.*1689G>C (n.*1689G>C) c.1439G>C (p.Gly480Ala) c.1402-10794G>C (n.1402-10794G>C) c.1775G>C (p.Gly592Ala) c.1955G>C (p.Gly652Ala) c.1622G>C (p.Gly541Ala) | |
7 | g.117592032G= | CA1737394048 | CFTR | c.1865G= (p.Gly622=) c.*1579G= (n.*1579G=) c.1682G= (p.Gly561=) c.*165G= (n.*165G=) c.*1689G= (n.*1689G=) c.1439G= (p.Gly480=) c.1402-10794G= (n.1402-10794G=) c.1775G= (p.Gly592=) c.1955G= (p.Gly652=) c.1622G= (p.Gly541=) | |
7 | g.117592032G>T | CA368978513 | CFTR | c.1865G>T (p.Gly622Val) c.*1579G>T (n.*1579G>T) c.1682G>T (p.Gly561Val) c.*165G>T (n.*165G>T) c.*1689G>T (n.*1689G>T) c.1439G>T (p.Gly480Val) c.1402-10794G>T (n.1402-10794G>T) c.1775G>T (p.Gly592Val) c.1955G>T (p.Gly652Val) c.1622G>T (p.Gly541Val) | |
7 | g.117592033T>A | CA457448857 | CFTR | c.1866T>A (p.Gly622=) c.*1580T>A (n.*1580T>A) c.1683T>A (p.Gly561=) c.*166T>A (n.*166T>A) c.*1690T>A (n.*1690T>A) c.1440T>A (p.Gly480=) c.1402-10793T>A (n.1402-10793T>A) c.1776T>A (p.Gly592=) c.1956T>A (p.Gly652=) c.1623T>A (p.Gly541=) | |
7 | g.117592033T>C | CA457448859 | CFTR | c.1866T>C (p.Gly622=) c.*1580T>C (n.*1580T>C) c.1683T>C (p.Gly561=) c.*166T>C (n.*166T>C) c.*1690T>C (n.*1690T>C) c.1440T>C (p.Gly480=) c.1402-10793T>C (n.1402-10793T>C) c.1776T>C (p.Gly592=) c.1956T>C (p.Gly652=) c.1623T>C (p.Gly541=) | gnomAD v4 |
7 | g.117592033T>G | CA457448858 | CFTR | c.1866T>G (p.Gly622=) c.*1580T>G (n.*1580T>G) c.1683T>G (p.Gly561=) c.*166T>G (n.*166T>G) c.*1690T>G (n.*1690T>G) c.1440T>G (p.Gly480=) c.1402-10793T>G (n.1402-10793T>G) c.1776T>G (p.Gly592=) c.1956T>G (p.Gly652=) c.1623T>G (p.Gly541=) | |
7 | g.117592034A>C | CA368978518 | CFTR | c.1867A>C (p.Ser623Arg) c.*1581A>C (n.*1581A>C) c.1684A>C (p.Ser562Arg) c.*167A>C (n.*167A>C) c.*1691A>C (n.*1691A>C) c.1441A>C (p.Ser481Arg) c.1402-10792A>C (n.1402-10792A>C) c.1777A>C (p.Ser593Arg) c.1957A>C (p.Ser653Arg) c.1624A>C (p.Ser542Arg) | |
7 | g.117592034A>G | CA368978520 | CFTR | c.1867A>G (p.Ser623Gly) c.*1581A>G (n.*1581A>G) c.1684A>G (p.Ser562Gly) c.*167A>G (n.*167A>G) c.*1691A>G (n.*1691A>G) c.1441A>G (p.Ser481Gly) c.1402-10792A>G (n.1402-10792A>G) c.1777A>G (p.Ser593Gly) c.1957A>G (p.Ser653Gly) c.1624A>G (p.Ser542Gly) | |
7 | g.117592034A>T | CA368978523 | CFTR | c.1867A>T (p.Ser623Cys) c.*1581A>T (n.*1581A>T) c.1684A>T (p.Ser562Cys) c.*167A>T (n.*167A>T) c.*1691A>T (n.*1691A>T) c.1441A>T (p.Ser481Cys) c.1402-10792A>T (n.1402-10792A>T) c.1777A>T (p.Ser593Cys) c.1957A>T (p.Ser653Cys) c.1624A>T (p.Ser542Cys) | |
7 | g.117592034dup | CA2580076503 | CFTR | c.1867dup (p.Ser623LysfsTer19) c.*1581dup (n.*1581dup) c.1684dup (p.Ser562LysfsTer19) c.*167dup (n.*167dup) c.*1691dup (n.*1691dup) c.1441dup (p.Ser481LysfsTer19) c.1402-10792dup (n.1402-10792dup) c.1777dup (p.Ser593LysfsTer19) c.1957dup (p.Ser653LysfsTer19) c.1624dup (p.Ser542LysfsTer19) | ClinVar |
7 | g.117592034_117592036delinsG | CA2580076502 | CFTR | c.1867_1869delinsG (p.Ser623GlufsTer18) c.*1581_*1583delinsG (n.*1581_*1583delinsG) c.1684_1686delinsG (p.Ser562GlufsTer18) c.*167_*169delinsG (n.*167_*169delinsG) c.*1691_*1693delinsG (n.*1691_*1693delinsG) c.1441_1443delinsG (p.Ser481GlufsTer18) c.1402-10792_1402-10790delinsG (n.1402-10792_1402-10790delinsG) c.1777_1779delinsG (p.Ser593GlufsTer18) c.1957_1959delinsG (p.Ser653GlufsTer18) c.1624_1626delinsG (p.Ser542GlufsTer18) | ClinVar |
7 | g.117592035G>A | CA368978526 | CFTR | c.1868G>A (p.Ser623Asn) c.*1582G>A (n.*1582G>A) c.1685G>A (p.Ser562Asn) c.*168G>A (n.*168G>A) c.*1692G>A (n.*1692G>A) c.1442G>A (p.Ser481Asn) c.1402-10791G>A (n.1402-10791G>A) c.1778G>A (p.Ser593Asn) c.1958G>A (p.Ser653Asn) c.1625G>A (p.Ser542Asn) | |
7 | g.117592035G>C | CA368978528 | CFTR | c.1868G>C (p.Ser623Thr) c.*1582G>C (n.*1582G>C) c.1685G>C (p.Ser562Thr) c.*168G>C (n.*168G>C) c.*1692G>C (n.*1692G>C) c.1442G>C (p.Ser481Thr) c.1402-10791G>C (n.1402-10791G>C) c.1778G>C (p.Ser593Thr) c.1958G>C (p.Ser653Thr) c.1625G>C (p.Ser542Thr) | |
7 | g.117592035G>T | CA368978529 | CFTR | c.1868G>T (p.Ser623Ile) c.*1582G>T (n.*1582G>T) c.1685G>T (p.Ser562Ile) c.*168G>T (n.*168G>T) c.*1692G>T (n.*1692G>T) c.1442G>T (p.Ser481Ile) c.1402-10791G>T (n.1402-10791G>T) c.1778G>T (p.Ser593Ile) c.1958G>T (p.Ser653Ile) c.1625G>T (p.Ser542Ile) |