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.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.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.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.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) | |
7 | g.117592036C>A | CA368978530 | CFTR | c.1869C>A (p.Ser623Arg) c.*1583C>A (n.*1583C>A) c.1686C>A (p.Ser562Arg) c.*169C>A (n.*169C>A) c.*1693C>A (n.*1693C>A) c.1443C>A (p.Ser481Arg) c.1402-10790C>A (n.1402-10790C>A) c.1779C>A (p.Ser593Arg) c.1959C>A (p.Ser653Arg) c.1626C>A (p.Ser542Arg) | |
7 | g.117592036C>G | CA368978532 | CFTR | c.1869C>G (p.Ser623Arg) c.*1583C>G (n.*1583C>G) c.1686C>G (p.Ser562Arg) c.*169C>G (n.*169C>G) c.*1693C>G (n.*1693C>G) c.1443C>G (p.Ser481Arg) c.1402-10790C>G (n.1402-10790C>G) c.1779C>G (p.Ser593Arg) c.1959C>G (p.Ser653Arg) c.1626C>G (p.Ser542Arg) | |
7 | g.117592036C>T | CA457448860 | CFTR | c.1869C>T (p.Ser623=) c.*1583C>T (n.*1583C>T) c.1686C>T (p.Ser562=) c.*169C>T (n.*169C>T) c.*1693C>T (n.*1693C>T) c.1443C>T (p.Ser481=) c.1402-10790C>T (n.1402-10790C>T) c.1779C>T (p.Ser593=) c.1959C>T (p.Ser653=) c.1626C>T (p.Ser542=) | |
7 | g.117592037A>C | CA368978534 | CFTR | c.1870A>C (p.Ser624Arg) c.*1584A>C (n.*1584A>C) c.1687A>C (p.Ser563Arg) c.*170A>C (n.*170A>C) c.*1694A>C (n.*1694A>C) c.1444A>C (p.Ser482Arg) c.1402-10789A>C (n.1402-10789A>C) c.1780A>C (p.Ser594Arg) c.1960A>C (p.Ser654Arg) c.1627A>C (p.Ser543Arg) | |
7 | g.117592037A>G | CA368978536 | CFTR | c.1870A>G (p.Ser624Gly) c.*1584A>G (n.*1584A>G) c.1687A>G (p.Ser563Gly) c.*170A>G (n.*170A>G) c.*1694A>G (n.*1694A>G) c.1444A>G (p.Ser482Gly) c.1402-10789A>G (n.1402-10789A>G) c.1780A>G (p.Ser594Gly) c.1960A>G (p.Ser654Gly) c.1627A>G (p.Ser543Gly) | |
7 | g.117592037A>T | CA368978539 | CFTR | c.1870A>T (p.Ser624Cys) c.*1584A>T (n.*1584A>T) c.1687A>T (p.Ser563Cys) c.*170A>T (n.*170A>T) c.*1694A>T (n.*1694A>T) c.1444A>T (p.Ser482Cys) c.1402-10789A>T (n.1402-10789A>T) c.1780A>T (p.Ser594Cys) c.1960A>T (p.Ser654Cys) c.1627A>T (p.Ser543Cys) | ClinVar gnomAD v4 |
7 | g.117592037_117592045delinsAGCTATTTT | CA1737394053 | CFTR | c.1870_1878delinsAGCTATTTT (p.Ser624=) c.*1584_*1592delinsAGCTATTTT (n.*1584_*1592delinsAGCTATTTT) c.1687_1695delinsAGCTATTTT (p.Ser563=) c.*170_*178delinsAGCTATTTT (n.*170_*178delinsAGCTATTTT) c.*1694_*1702delinsAGCTATTTT (n.*1694_*1702delinsAGCTATTTT) c.1444_1452delinsAGCTATTTT (p.Ser482=) c.1402-10789_1402-10781delinsAGCTATTTT (n.1402-10789_1402-10781delinsAGCTATTTT) c.1780_1788delinsAGCTATTTT (p.Ser594=) c.1960_1968delinsAGCTATTTT (p.Ser654=) c.1627_1635delinsAGCTATTTT (p.Ser543=) | |
7 | g.117592038G>A | CA368978544 | CFTR | c.1871G>A (p.Ser624Asn) c.*1585G>A (n.*1585G>A) c.1688G>A (p.Ser563Asn) c.*171G>A (n.*171G>A) c.*1695G>A (n.*1695G>A) c.1445G>A (p.Ser482Asn) c.1402-10788G>A (n.1402-10788G>A) c.1781G>A (p.Ser594Asn) c.1961G>A (p.Ser654Asn) c.1628G>A (p.Ser543Asn) | gnomAD v4 |
7 | g.117592038G>C | CA368978543 | CFTR | c.1871G>C (p.Ser624Thr) c.*1585G>C (n.*1585G>C) c.1688G>C (p.Ser563Thr) c.*171G>C (n.*171G>C) c.*1695G>C (n.*1695G>C) c.1445G>C (p.Ser482Thr) c.1402-10788G>C (n.1402-10788G>C) c.1781G>C (p.Ser594Thr) c.1961G>C (p.Ser654Thr) c.1628G>C (p.Ser543Thr) | |
7 | g.117592038G>T | CA368978540 | CFTR | c.1871G>T (p.Ser624Ile) c.*1585G>T (n.*1585G>T) c.1688G>T (p.Ser563Ile) c.*171G>T (n.*171G>T) c.*1695G>T (n.*1695G>T) c.1445G>T (p.Ser482Ile) c.1402-10788G>T (n.1402-10788G>T) c.1781G>T (p.Ser594Ile) c.1961G>T (p.Ser654Ile) c.1628G>T (p.Ser543Ile) | |
7 | g.117592038_117592045del | CA577680762 | CFTR | c.1871_1878del (p.Ser624IlefsTer15) c.*1585_*1592del (n.*1585_*1592del) c.1688_1695del (p.Ser563IlefsTer15) c.*171_*178del (n.*171_*178del) c.*1695_*1702del (n.*1695_*1702del) c.1445_1452del (p.Ser482IlefsTer15) c.1402-10788_1402-10781del (n.1402-10788_1402-10781del) c.1781_1788del (p.Ser594IlefsTer15) c.1961_1968del (p.Ser654IlefsTer15) c.1628_1635del (p.Ser543IlefsTer15) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592039C>A | CA368978549 | CFTR | c.1872C>A (p.Ser624Arg) c.*1586C>A (n.*1586C>A) c.1689C>A (p.Ser563Arg) c.*172C>A (n.*172C>A) c.*1696C>A (n.*1696C>A) c.1446C>A (p.Ser482Arg) c.1402-10787C>A (n.1402-10787C>A) c.1782C>A (p.Ser594Arg) c.1962C>A (p.Ser654Arg) c.1629C>A (p.Ser543Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592039C= | CA1737394057 | CFTR | c.1872C= (p.Ser624=) c.*1586C= (n.*1586C=) c.1689C= (p.Ser563=) c.*172C= (n.*172C=) c.*1696C= (n.*1696C=) c.1446C= (p.Ser482=) c.1402-10787C= (n.1402-10787C=) c.1782C= (p.Ser594=) c.1962C= (p.Ser654=) c.1629C= (p.Ser543=) | |
7 | g.117592039C>G | CA368978548 | CFTR | c.1872C>G (p.Ser624Arg) c.*1586C>G (n.*1586C>G) c.1689C>G (p.Ser563Arg) c.*172C>G (n.*172C>G) c.*1696C>G (n.*1696C>G) c.1446C>G (p.Ser482Arg) c.1402-10787C>G (n.1402-10787C>G) c.1782C>G (p.Ser594Arg) c.1962C>G (p.Ser654Arg) c.1629C>G (p.Ser543Arg) | |
7 | g.117592039C>T | CA457448861 | CFTR | c.1872C>T (p.Ser624=) c.*1586C>T (n.*1586C>T) c.1689C>T (p.Ser563=) c.*172C>T (n.*172C>T) c.*1696C>T (n.*1696C>T) c.1446C>T (p.Ser482=) c.1402-10787C>T (n.1402-10787C>T) c.1782C>T (p.Ser594=) c.1962C>T (p.Ser654=) c.1629C>T (p.Ser543=) | |
7 | g.117592040T>A | CA4451108 | CFTR | c.1873T>A (p.Tyr625Asn) c.*1587T>A (n.*1587T>A) c.1690T>A (p.Tyr564Asn) c.*173T>A (n.*173T>A) c.*1697T>A (n.*1697T>A) c.1447T>A (p.Tyr483Asn) c.1402-10786T>A (n.1402-10786T>A) c.1783T>A (p.Tyr595Asn) c.1963T>A (p.Tyr655Asn) c.1630T>A (p.Tyr544Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592040T>C | CA368978551 | CFTR | c.1873T>C (p.Tyr625His) c.*1587T>C (n.*1587T>C) c.1690T>C (p.Tyr564His) c.*173T>C (n.*173T>C) c.*1697T>C (n.*1697T>C) c.1447T>C (p.Tyr483His) c.1402-10786T>C (n.1402-10786T>C) c.1783T>C (p.Tyr595His) c.1963T>C (p.Tyr655His) c.1630T>C (p.Tyr544His) | |
7 | g.117592040T>G | CA368978553 | CFTR | c.1873T>G (p.Tyr625Asp) c.*1587T>G (n.*1587T>G) c.1690T>G (p.Tyr564Asp) c.*173T>G (n.*173T>G) c.*1697T>G (n.*1697T>G) c.1447T>G (p.Tyr483Asp) c.1402-10786T>G (n.1402-10786T>G) c.1783T>G (p.Tyr595Asp) c.1963T>G (p.Tyr655Asp) c.1630T>G (p.Tyr544Asp) | |
7 | g.117592040T= | CA1737394059 | CFTR | c.1873T= (p.Tyr625=) c.*1587T= (n.*1587T=) c.1690T= (p.Tyr564=) c.*173T= (n.*173T=) c.*1697T= (n.*1697T=) c.1447T= (p.Tyr483=) c.1402-10786T= (n.1402-10786T=) c.1783T= (p.Tyr595=) c.1963T= (p.Tyr655=) c.1630T= (p.Tyr544=) | |
7 | g.117592041A>C | CA368978555 | CFTR | c.1874A>C (p.Tyr625Ser) c.*1588A>C (n.*1588A>C) c.1691A>C (p.Tyr564Ser) c.*174A>C (n.*174A>C) c.*1698A>C (n.*1698A>C) c.1448A>C (p.Tyr483Ser) c.1402-10785A>C (n.1402-10785A>C) c.1784A>C (p.Tyr595Ser) c.1964A>C (p.Tyr655Ser) c.1631A>C (p.Tyr544Ser) | ClinVar |
7 | g.117592041A>G | CA368978557 | CFTR | c.1874A>G (p.Tyr625Cys) c.*1588A>G (n.*1588A>G) c.1691A>G (p.Tyr564Cys) c.*174A>G (n.*174A>G) c.*1698A>G (n.*1698A>G) c.1448A>G (p.Tyr483Cys) c.1402-10785A>G (n.1402-10785A>G) c.1784A>G (p.Tyr595Cys) c.1964A>G (p.Tyr655Cys) c.1631A>G (p.Tyr544Cys) | gnomAD v4 |
7 | g.117592041A>T | CA368978559 | CFTR | c.1874A>T (p.Tyr625Phe) c.*1588A>T (n.*1588A>T) c.1691A>T (p.Tyr564Phe) c.*174A>T (n.*174A>T) c.*1698A>T (n.*1698A>T) c.1448A>T (p.Tyr483Phe) c.1402-10785A>T (n.1402-10785A>T) c.1784A>T (p.Tyr595Phe) c.1964A>T (p.Tyr655Phe) c.1631A>T (p.Tyr544Phe) | |
7 | g.117592042T>A | CA368978562 | CFTR | c.1875T>A (p.Tyr625Ter) c.*1589T>A (n.*1589T>A) c.1692T>A (p.Tyr564Ter) c.*175T>A (n.*175T>A) c.*1699T>A (n.*1699T>A) c.1449T>A (p.Tyr483Ter) c.1402-10784T>A (n.1402-10784T>A) c.1785T>A (p.Tyr595Ter) c.1965T>A (p.Tyr655Ter) c.1632T>A (p.Tyr544Ter) | |
7 | g.117592042T>C | CA457448862 | CFTR | c.1875T>C (p.Tyr625=) c.*1589T>C (n.*1589T>C) c.1692T>C (p.Tyr564=) c.*175T>C (n.*175T>C) c.*1699T>C (n.*1699T>C) c.1449T>C (p.Tyr483=) c.1402-10784T>C (n.1402-10784T>C) c.1785T>C (p.Tyr595=) c.1965T>C (p.Tyr655=) c.1632T>C (p.Tyr544=) | ClinVar dbSNP |
7 | g.117592042T>G | CA368978564 | CFTR | c.1875T>G (p.Tyr625Ter) c.*1589T>G (n.*1589T>G) c.1692T>G (p.Tyr564Ter) c.*175T>G (n.*175T>G) c.*1699T>G (n.*1699T>G) c.1449T>G (p.Tyr483Ter) c.1402-10784T>G (n.1402-10784T>G) c.1785T>G (p.Tyr595Ter) c.1965T>G (p.Tyr655Ter) c.1632T>G (p.Tyr544Ter) | |
7 | g.117592044_117592046del | CA2684619354 | CFTR | c.1877_1879del (p.Phe626del) c.*1591_*1593del (n.*1591_*1593del) c.1694_1696del (p.Phe565del) c.*177_*179del (n.*177_*179del) c.*1701_*1703del (n.*1701_*1703del) c.1451_1453del (p.Phe484del) c.1402-10782_1402-10780del (n.1402-10782_1402-10780del) c.1787_1789del (p.Phe596del) c.1967_1969del (p.Phe656del) c.1634_1636del (p.Phe545del) | gnomAD v4 |
7 | g.117592043T>A | CA368978570 | CFTR | c.1876T>A (p.Phe626Ile) c.*1590T>A (n.*1590T>A) c.1693T>A (p.Phe565Ile) c.*176T>A (n.*176T>A) c.*1700T>A (n.*1700T>A) c.1450T>A (p.Phe484Ile) c.1402-10783T>A (n.1402-10783T>A) c.1786T>A (p.Phe596Ile) c.1966T>A (p.Phe656Ile) c.1633T>A (p.Phe545Ile) | |
7 | g.117592043T>C | CA368978572 | CFTR | c.1876T>C (p.Phe626Leu) c.*1590T>C (n.*1590T>C) c.1693T>C (p.Phe565Leu) c.*176T>C (n.*176T>C) c.*1700T>C (n.*1700T>C) c.1450T>C (p.Phe484Leu) c.1402-10783T>C (n.1402-10783T>C) c.1786T>C (p.Phe596Leu) c.1966T>C (p.Phe656Leu) c.1633T>C (p.Phe545Leu) | |
7 | g.117592043T>G | CA368978574 | CFTR | c.1876T>G (p.Phe626Val) c.*1590T>G (n.*1590T>G) c.1693T>G (p.Phe565Val) c.*176T>G (n.*176T>G) c.*1700T>G (n.*1700T>G) c.1450T>G (p.Phe484Val) c.1402-10783T>G (n.1402-10783T>G) c.1786T>G (p.Phe596Val) c.1966T>G (p.Phe656Val) c.1633T>G (p.Phe545Val) | |
7 | g.117592044T>A | CA368978582 | CFTR | c.1877T>A (p.Phe626Tyr) c.*1591T>A (n.*1591T>A) c.1694T>A (p.Phe565Tyr) c.*177T>A (n.*177T>A) c.*1701T>A (n.*1701T>A) c.1451T>A (p.Phe484Tyr) c.1402-10782T>A (n.1402-10782T>A) c.1787T>A (p.Phe596Tyr) c.1967T>A (p.Phe656Tyr) c.1634T>A (p.Phe545Tyr) | |
7 | g.117592044T>C | CA368978580 | CFTR | c.1877T>C (p.Phe626Ser) c.*1591T>C (n.*1591T>C) c.1694T>C (p.Phe565Ser) c.*177T>C (n.*177T>C) c.*1701T>C (n.*1701T>C) c.1451T>C (p.Phe484Ser) c.1402-10782T>C (n.1402-10782T>C) c.1787T>C (p.Phe596Ser) c.1967T>C (p.Phe656Ser) c.1634T>C (p.Phe545Ser) | |
7 | g.117592044T>G | CA368978576 | CFTR | c.1877T>G (p.Phe626Cys) c.*1591T>G (n.*1591T>G) c.1694T>G (p.Phe565Cys) c.*177T>G (n.*177T>G) c.*1701T>G (n.*1701T>G) c.1451T>G (p.Phe484Cys) c.1402-10782T>G (n.1402-10782T>G) c.1787T>G (p.Phe596Cys) c.1967T>G (p.Phe656Cys) c.1634T>G (p.Phe545Cys) | |
7 | g.117592045T>A | CA368978584 | CFTR | c.1878T>A (p.Phe626Leu) c.*1592T>A (n.*1592T>A) c.1695T>A (p.Phe565Leu) c.*178T>A (n.*178T>A) c.*1702T>A (n.*1702T>A) c.1452T>A (p.Phe484Leu) c.1402-10781T>A (n.1402-10781T>A) c.1788T>A (p.Phe596Leu) c.1968T>A (p.Phe656Leu) c.1635T>A (p.Phe545Leu) | |
7 | g.117592045T>C | CA457448863 | CFTR | c.1878T>C (p.Phe626=) c.*1592T>C (n.*1592T>C) c.1695T>C (p.Phe565=) c.*178T>C (n.*178T>C) c.*1702T>C (n.*1702T>C) c.1452T>C (p.Phe484=) c.1402-10781T>C (n.1402-10781T>C) c.1788T>C (p.Phe596=) c.1968T>C (p.Phe656=) c.1635T>C (p.Phe545=) | |
7 | g.117592045T>G | CA4451109 | CFTR | c.1878T>G (p.Phe626Leu) c.*1592T>G (n.*1592T>G) c.1695T>G (p.Phe565Leu) c.*178T>G (n.*178T>G) c.*1702T>G (n.*1702T>G) c.1452T>G (p.Phe484Leu) c.1402-10781T>G (n.1402-10781T>G) c.1788T>G (p.Phe596Leu) c.1968T>G (p.Phe656Leu) c.1635T>G (p.Phe545Leu) | dbSNP ExAC gnomAD v2 |
7 | g.117592045T= | CA1737394062 | CFTR | c.1878T= (p.Phe626=) c.*1592T= (n.*1592T=) c.1695T= (p.Phe565=) c.*178T= (n.*178T=) c.*1702T= (n.*1702T=) c.1452T= (p.Phe484=) c.1402-10781T= (n.1402-10781T=) c.1788T= (p.Phe596=) c.1968T= (p.Phe656=) c.1635T= (p.Phe545=) | |
7 | g.117592046T>A | CA368978588 | CFTR | c.1879T>A (p.Tyr627Asn) c.*1593T>A (n.*1593T>A) c.1696T>A (p.Tyr566Asn) c.*179T>A (n.*179T>A) c.*1703T>A (n.*1703T>A) c.1453T>A (p.Tyr485Asn) c.1402-10780T>A (n.1402-10780T>A) c.1789T>A (p.Tyr597Asn) c.1969T>A (p.Tyr657Asn) c.1636T>A (p.Tyr546Asn) | |
7 | g.117592046T>C | CA368978592 | CFTR | c.1879T>C (p.Tyr627His) c.*1593T>C (n.*1593T>C) c.1696T>C (p.Tyr566His) c.*179T>C (n.*179T>C) c.*1703T>C (n.*1703T>C) c.1453T>C (p.Tyr485His) c.1402-10780T>C (n.1402-10780T>C) c.1789T>C (p.Tyr597His) c.1969T>C (p.Tyr657His) c.1636T>C (p.Tyr546His) | |
7 | g.117592046T>G | CA368978594 | CFTR | c.1879T>G (p.Tyr627Asp) c.*1593T>G (n.*1593T>G) c.1696T>G (p.Tyr566Asp) c.*179T>G (n.*179T>G) c.*1703T>G (n.*1703T>G) c.1453T>G (p.Tyr485Asp) c.1402-10780T>G (n.1402-10780T>G) c.1789T>G (p.Tyr597Asp) c.1969T>G (p.Tyr657Asp) c.1636T>G (p.Tyr546Asp) | |
7 | g.117592047A= | CA1737394065 | CFTR | c.1880A= (p.Tyr627=) c.*1594A= (n.*1594A=) c.1697A= (p.Tyr566=) c.*180A= (n.*180A=) c.*1704A= (n.*1704A=) c.1454A= (p.Tyr485=) c.1402-10779A= (n.1402-10779A=) c.1790A= (p.Tyr597=) c.1970A= (p.Tyr657=) c.1637A= (p.Tyr546=) | |
7 | g.117592047A>C | CA368978596 | CFTR | c.1880A>C (p.Tyr627Ser) c.*1594A>C (n.*1594A>C) c.1697A>C (p.Tyr566Ser) c.*180A>C (n.*180A>C) c.*1704A>C (n.*1704A>C) c.1454A>C (p.Tyr485Ser) c.1402-10779A>C (n.1402-10779A>C) c.1790A>C (p.Tyr597Ser) c.1970A>C (p.Tyr657Ser) c.1637A>C (p.Tyr546Ser) | |
7 | g.117592047A>G | CA368978597 | CFTR | c.1880A>G (p.Tyr627Cys) c.*1594A>G (n.*1594A>G) c.1697A>G (p.Tyr566Cys) c.*180A>G (n.*180A>G) c.*1704A>G (n.*1704A>G) c.1454A>G (p.Tyr485Cys) c.1402-10779A>G (n.1402-10779A>G) c.1790A>G (p.Tyr597Cys) c.1970A>G (p.Tyr657Cys) c.1637A>G (p.Tyr546Cys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592047A>T | CA368978598 | CFTR | c.1880A>T (p.Tyr627Phe) c.*1594A>T (n.*1594A>T) c.1697A>T (p.Tyr566Phe) c.*180A>T (n.*180A>T) c.*1704A>T (n.*1704A>T) c.1454A>T (p.Tyr485Phe) c.1402-10779A>T (n.1402-10779A>T) c.1790A>T (p.Tyr597Phe) c.1970A>T (p.Tyr657Phe) c.1637A>T (p.Tyr546Phe) | |
7 | g.117592048T>A | CA368978602 | CFTR | c.1881T>A (p.Tyr627Ter) c.*1595T>A (n.*1595T>A) c.1698T>A (p.Tyr566Ter) c.*181T>A (n.*181T>A) c.*1705T>A (n.*1705T>A) c.1455T>A (p.Tyr485Ter) c.1402-10778T>A (n.1402-10778T>A) c.1791T>A (p.Tyr597Ter) c.1971T>A (p.Tyr657Ter) c.1638T>A (p.Tyr546Ter) | |
7 | g.117592048T>C | CA457448864 | CFTR | c.1881T>C (p.Tyr627=) c.*1595T>C (n.*1595T>C) c.1698T>C (p.Tyr566=) c.*181T>C (n.*181T>C) c.*1705T>C (n.*1705T>C) c.1455T>C (p.Tyr485=) c.1402-10778T>C (n.1402-10778T>C) c.1791T>C (p.Tyr597=) c.1971T>C (p.Tyr657=) c.1638T>C (p.Tyr546=) | ClinVar |
7 | g.117592048T>G | CA368978603 | CFTR | c.1881T>G (p.Tyr627Ter) c.*1595T>G (n.*1595T>G) c.1698T>G (p.Tyr566Ter) c.*181T>G (n.*181T>G) c.*1705T>G (n.*1705T>G) c.1455T>G (p.Tyr485Ter) c.1402-10778T>G (n.1402-10778T>G) c.1791T>G (p.Tyr597Ter) c.1971T>G (p.Tyr657Ter) c.1638T>G (p.Tyr546Ter) | |
7 | g.117592049G>A | CA326706 | CFTR | c.1882G>A (p.Gly628Arg) c.*1596G>A (n.*1596G>A) c.1699G>A (p.Gly567Arg) c.*182G>A (n.*182G>A) c.*1706G>A (n.*1706G>A) c.1456G>A (p.Gly486Arg) c.1402-10777G>A (n.1402-10777G>A) c.1792G>A (p.Gly598Arg) c.1972G>A (p.Gly658Arg) c.1639G>A (p.Gly547Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592049G>C | CA326707 | CFTR | c.1882G>C (p.Gly628Arg) c.*1596G>C (n.*1596G>C) c.1699G>C (p.Gly567Arg) c.*182G>C (n.*182G>C) c.*1706G>C (n.*1706G>C) c.1456G>C (p.Gly486Arg) c.1402-10777G>C (n.1402-10777G>C) c.1792G>C (p.Gly598Arg) c.1972G>C (p.Gly658Arg) c.1639G>C (p.Gly547Arg) | ClinVar dbSNP gnomAD v4 |
7 | g.117592049G= | CA1737394069 | CFTR | c.1882G= (p.Gly628=) c.*1596G= (n.*1596G=) c.1699G= (p.Gly567=) c.*182G= (n.*182G=) c.*1706G= (n.*1706G=) c.1456G= (p.Gly486=) c.1402-10777G= (n.1402-10777G=) c.1792G= (p.Gly598=) c.1972G= (p.Gly658=) c.1639G= (p.Gly547=) | |
7 | g.117592049G>T | CA368978610 | CFTR | c.1882G>T (p.Gly628Trp) c.*1596G>T (n.*1596G>T) c.1699G>T (p.Gly567Trp) c.*182G>T (n.*182G>T) c.*1706G>T (n.*1706G>T) c.1456G>T (p.Gly486Trp) c.1402-10777G>T (n.1402-10777G>T) c.1792G>T (p.Gly598Trp) c.1972G>T (p.Gly658Trp) c.1639G>T (p.Gly547Trp) | |
7 | g.117592050G>A | CA368978612 | CFTR | c.1883G>A (p.Gly628Glu) c.*1597G>A (n.*1597G>A) c.1700G>A (p.Gly567Glu) c.*183G>A (n.*183G>A) c.*1707G>A (n.*1707G>A) c.1457G>A (p.Gly486Glu) c.1402-10776G>A (n.1402-10776G>A) c.1793G>A (p.Gly598Glu) c.1973G>A (p.Gly658Glu) c.1640G>A (p.Gly547Glu) | |
7 | g.117592050G>C | CA368978613 | CFTR | c.1883G>C (p.Gly628Ala) c.*1597G>C (n.*1597G>C) c.1700G>C (p.Gly567Ala) c.*183G>C (n.*183G>C) c.*1707G>C (n.*1707G>C) c.1457G>C (p.Gly486Ala) c.1402-10776G>C (n.1402-10776G>C) c.1793G>C (p.Gly598Ala) c.1973G>C (p.Gly658Ala) c.1640G>C (p.Gly547Ala) | ClinVar dbSNP |
7 | g.117592050G= | CA1737394077 | CFTR | c.1883G= (p.Gly628=) c.*1597G= (n.*1597G=) c.1700G= (p.Gly567=) c.*183G= (n.*183G=) c.*1707G= (n.*1707G=) c.1457G= (p.Gly486=) c.1402-10776G= (n.1402-10776G=) c.1793G= (p.Gly598=) c.1973G= (p.Gly658=) c.1640G= (p.Gly547=) | |
7 | g.117592050G>T | CA368978611 | CFTR | c.1883G>T (p.Gly628Val) c.*1597G>T (n.*1597G>T) c.1700G>T (p.Gly567Val) c.*183G>T (n.*183G>T) c.*1707G>T (n.*1707G>T) c.1457G>T (p.Gly486Val) c.1402-10776G>T (n.1402-10776G>T) c.1793G>T (p.Gly598Val) c.1973G>T (p.Gly658Val) c.1640G>T (p.Gly547Val) | |
7 | g.117592051G>A | CA457448865 | CFTR | c.1884G>A (p.Gly628=) c.*1598G>A (n.*1598G>A) c.1701G>A (p.Gly567=) c.*184G>A (n.*184G>A) c.*1708G>A (n.*1708G>A) c.1458G>A (p.Gly486=) c.1402-10775G>A (n.1402-10775G>A) c.1794G>A (p.Gly598=) c.1974G>A (p.Gly658=) c.1641G>A (p.Gly547=) | COSMIC |
7 | g.117592051G>C | CA457448866 | CFTR | c.1884G>C (p.Gly628=) c.*1598G>C (n.*1598G>C) c.1701G>C (p.Gly567=) c.*184G>C (n.*184G>C) c.*1708G>C (n.*1708G>C) c.1458G>C (p.Gly486=) c.1402-10775G>C (n.1402-10775G>C) c.1794G>C (p.Gly598=) c.1974G>C (p.Gly658=) c.1641G>C (p.Gly547=) | |
7 | g.117592051G= | CA1737394087 | CFTR | c.1884G= (p.Gly628=) c.*1598G= (n.*1598G=) c.1701G= (p.Gly567=) c.*184G= (n.*184G=) c.*1708G= (n.*1708G=) c.1458G= (p.Gly486=) c.1402-10775G= (n.1402-10775G=) c.1794G= (p.Gly598=) c.1974G= (p.Gly658=) c.1641G= (p.Gly547=) | |
7 | g.117592051G>T | CA457448867 | CFTR | c.1884G>T (p.Gly628=) c.*1598G>T (n.*1598G>T) c.1701G>T (p.Gly567=) c.*184G>T (n.*184G>T) c.*1708G>T (n.*1708G>T) c.1458G>T (p.Gly486=) c.1402-10775G>T (n.1402-10775G>T) c.1794G>T (p.Gly598=) c.1974G>T (p.Gly658=) c.1641G>T (p.Gly547=) | dbSNP gnomAD v2 |
7 | g.117592052A= | CA1737394089 | CFTR | c.1885A= (p.Thr629=) c.*1599A= (n.*1599A=) c.1702A= (p.Thr568=) c.*185A= (n.*185A=) c.*1709A= (n.*1709A=) c.1459A= (p.Thr487=) c.1402-10774A= (n.1402-10774A=) c.1795A= (p.Thr599=) c.1975A= (p.Thr659=) c.1642A= (p.Thr548=) | |
7 | g.117592052A>C | CA368978617 | CFTR | c.1885A>C (p.Thr629Pro) c.*1599A>C (n.*1599A>C) c.1702A>C (p.Thr568Pro) c.*185A>C (n.*185A>C) c.*1709A>C (n.*1709A>C) c.1459A>C (p.Thr487Pro) c.1402-10774A>C (n.1402-10774A>C) c.1795A>C (p.Thr599Pro) c.1975A>C (p.Thr659Pro) c.1642A>C (p.Thr548Pro) | |
7 | g.117592052A>G | CA368978619 | CFTR | c.1885A>G (p.Thr629Ala) c.*1599A>G (n.*1599A>G) c.1702A>G (p.Thr568Ala) c.*185A>G (n.*185A>G) c.*1709A>G (n.*1709A>G) c.1459A>G (p.Thr487Ala) c.1402-10774A>G (n.1402-10774A>G) c.1795A>G (p.Thr599Ala) c.1975A>G (p.Thr659Ala) c.1642A>G (p.Thr548Ala) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592052A>T | CA368978621 | CFTR | c.1885A>T (p.Thr629Ser) c.*1599A>T (n.*1599A>T) c.1702A>T (p.Thr568Ser) c.*185A>T (n.*185A>T) c.*1709A>T (n.*1709A>T) c.1459A>T (p.Thr487Ser) c.1402-10774A>T (n.1402-10774A>T) c.1795A>T (p.Thr599Ser) c.1975A>T (p.Thr659Ser) c.1642A>T (p.Thr548Ser) | |
7 | g.117592053C>A | CA368978622 | CFTR | c.1886C>A (p.Thr629Lys) c.*1600C>A (n.*1600C>A) c.1703C>A (p.Thr568Lys) c.*186C>A (n.*186C>A) c.*1710C>A (n.*1710C>A) c.1460C>A (p.Thr487Lys) c.1402-10773C>A (n.1402-10773C>A) c.1796C>A (p.Thr599Lys) c.1976C>A (p.Thr659Lys) c.1643C>A (p.Thr548Lys) | |
7 | g.117592053C= | CA1737394095 | CFTR | c.1886C= (p.Thr629=) c.*1600C= (n.*1600C=) c.1703C= (p.Thr568=) c.*186C= (n.*186C=) c.*1710C= (n.*1710C=) c.1460C= (p.Thr487=) c.1402-10773C= (n.1402-10773C=) c.1796C= (p.Thr599=) c.1976C= (p.Thr659=) c.1643C= (p.Thr548=) | |
7 | g.117592053C>G | CA368978624 | CFTR | c.1886C>G (p.Thr629Arg) c.*1600C>G (n.*1600C>G) c.1703C>G (p.Thr568Arg) c.*186C>G (n.*186C>G) c.*1710C>G (n.*1710C>G) c.1460C>G (p.Thr487Arg) c.1402-10773C>G (n.1402-10773C>G) c.1796C>G (p.Thr599Arg) c.1976C>G (p.Thr659Arg) c.1643C>G (p.Thr548Arg) | |
7 | g.117592053C>T | CA368978631 | CFTR | c.1886C>T (p.Thr629Ile) c.*1600C>T (n.*1600C>T) c.1703C>T (p.Thr568Ile) c.*186C>T (n.*186C>T) c.*1710C>T (n.*1710C>T) c.1460C>T (p.Thr487Ile) c.1402-10773C>T (n.1402-10773C>T) c.1796C>T (p.Thr599Ile) c.1976C>T (p.Thr659Ile) c.1643C>T (p.Thr548Ile) | dbSNP |
7 | g.117592054A= | CA1737394098 | CFTR | c.1887A= (p.Thr629=) c.*1601A= (n.*1601A=) c.1704A= (p.Thr568=) c.*187A= (n.*187A=) c.*1711A= (n.*1711A=) c.1461A= (p.Thr487=) c.1402-10772A= (n.1402-10772A=) c.1797A= (p.Thr599=) c.1977A= (p.Thr659=) c.1644A= (p.Thr548=) | |
7 | g.117592054A>C | CA457448870 | CFTR | c.1887A>C (p.Thr629=) c.*1601A>C (n.*1601A>C) c.1704A>C (p.Thr568=) c.*187A>C (n.*187A>C) c.*1711A>C (n.*1711A>C) c.1461A>C (p.Thr487=) c.1402-10772A>C (n.1402-10772A>C) c.1797A>C (p.Thr599=) c.1977A>C (p.Thr659=) c.1644A>C (p.Thr548=) | |
7 | g.117592054A>G | CA457448869 | CFTR | c.1887A>G (p.Thr629=) c.*1601A>G (n.*1601A>G) c.1704A>G (p.Thr568=) c.*187A>G (n.*187A>G) c.*1711A>G (n.*1711A>G) c.1461A>G (p.Thr487=) c.1402-10772A>G (n.1402-10772A>G) c.1797A>G (p.Thr599=) c.1977A>G (p.Thr659=) c.1644A>G (p.Thr548=) | |
7 | g.117592054A>T | CA457448868 | CFTR | c.1887A>T (p.Thr629=) c.*1601A>T (n.*1601A>T) c.1704A>T (p.Thr568=) c.*187A>T (n.*187A>T) c.*1711A>T (n.*1711A>T) c.1461A>T (p.Thr487=) c.1402-10772A>T (n.1402-10772A>T) c.1797A>T (p.Thr599=) c.1977A>T (p.Thr659=) c.1644A>T (p.Thr548=) | |
7 | g.117592055T>A | CA368978645 | CFTR | c.1888T>A (p.Phe630Ile) c.*1602T>A (n.*1602T>A) c.1705T>A (p.Phe569Ile) c.*188T>A (n.*188T>A) c.*1712T>A (n.*1712T>A) c.1462T>A (p.Phe488Ile) c.1402-10771T>A (n.1402-10771T>A) c.1798T>A (p.Phe600Ile) c.1978T>A (p.Phe660Ile) c.1645T>A (p.Phe549Ile) | |
7 | g.117592055T>C | CA368978636 | CFTR | c.1888T>C (p.Phe630Leu) c.*1602T>C (n.*1602T>C) c.1705T>C (p.Phe569Leu) c.*188T>C (n.*188T>C) c.*1712T>C (n.*1712T>C) c.1462T>C (p.Phe488Leu) c.1402-10771T>C (n.1402-10771T>C) c.1798T>C (p.Phe600Leu) c.1978T>C (p.Phe660Leu) c.1645T>C (p.Phe549Leu) | ClinVar |
7 | g.117592055T>G | CA368978643 | CFTR | c.1888T>G (p.Phe630Val) c.*1602T>G (n.*1602T>G) c.1705T>G (p.Phe569Val) c.*188T>G (n.*188T>G) c.*1712T>G (n.*1712T>G) c.1462T>G (p.Phe488Val) c.1402-10771T>G (n.1402-10771T>G) c.1798T>G (p.Phe600Val) c.1978T>G (p.Phe660Val) c.1645T>G (p.Phe549Val) | |
7 | g.117592058dup | CA4451110 | CFTR | c.1891dup (p.Ser631PhefsTer11) c.*1605dup (n.*1605dup) c.1708dup (p.Ser570PhefsTer11) c.*191dup (n.*191dup) c.*1715dup (n.*1715dup) c.1465dup (p.Ser489PhefsTer11) c.1402-10768dup (n.1402-10768dup) c.1801dup (p.Ser601PhefsTer11) c.1981dup (p.Ser661PhefsTer11) c.1648dup (p.Ser550PhefsTer11) | ClinVar dbSNP ExAC gnomAD v2 |
7 | g.117592056T>A | CA368978647 | CFTR | c.1889T>A (p.Phe630Tyr) c.*1603T>A (n.*1603T>A) c.1706T>A (p.Phe569Tyr) c.*189T>A (n.*189T>A) c.*1713T>A (n.*1713T>A) c.1463T>A (p.Phe488Tyr) c.1402-10770T>A (n.1402-10770T>A) c.1799T>A (p.Phe600Tyr) c.1979T>A (p.Phe660Tyr) c.1646T>A (p.Phe549Tyr) | |
7 | g.117592056T>C | CA368978648 | CFTR | c.1889T>C (p.Phe630Ser) c.*1603T>C (n.*1603T>C) c.1706T>C (p.Phe569Ser) c.*189T>C (n.*189T>C) c.*1713T>C (n.*1713T>C) c.1463T>C (p.Phe488Ser) c.1402-10770T>C (n.1402-10770T>C) c.1799T>C (p.Phe600Ser) c.1979T>C (p.Phe660Ser) c.1646T>C (p.Phe549Ser) | |
7 | g.117592056T>G | CA368978651 | CFTR | c.1889T>G (p.Phe630Cys) c.*1603T>G (n.*1603T>G) c.1706T>G (p.Phe569Cys) c.*189T>G (n.*189T>G) c.*1713T>G (n.*1713T>G) c.1463T>G (p.Phe488Cys) c.1402-10770T>G (n.1402-10770T>G) c.1799T>G (p.Phe600Cys) c.1979T>G (p.Phe660Cys) c.1646T>G (p.Phe549Cys) | |
7 | g.117592057T>A | CA368978654 | CFTR | c.1890T>A (p.Phe630Leu) c.*1604T>A (n.*1604T>A) c.1707T>A (p.Phe569Leu) c.*190T>A (n.*190T>A) c.*1714T>A (n.*1714T>A) c.1464T>A (p.Phe488Leu) c.1402-10769T>A (n.1402-10769T>A) c.1800T>A (p.Phe600Leu) c.1980T>A (p.Phe660Leu) c.1647T>A (p.Phe549Leu) | |
7 | g.117592057T>C | CA457448871 | CFTR | c.1890T>C (p.Phe630=) c.*1604T>C (n.*1604T>C) c.1707T>C (p.Phe569=) c.*190T>C (n.*190T>C) c.*1714T>C (n.*1714T>C) c.1464T>C (p.Phe488=) c.1402-10769T>C (n.1402-10769T>C) c.1800T>C (p.Phe600=) c.1980T>C (p.Phe660=) c.1647T>C (p.Phe549=) | ClinVar |
7 | g.117592057T>G | CA368978657 | CFTR | c.1890T>G (p.Phe630Leu) c.*1604T>G (n.*1604T>G) c.1707T>G (p.Phe569Leu) c.*190T>G (n.*190T>G) c.*1714T>G (n.*1714T>G) c.1464T>G (p.Phe488Leu) c.1402-10769T>G (n.1402-10769T>G) c.1800T>G (p.Phe600Leu) c.1980T>G (p.Phe660Leu) c.1647T>G (p.Phe549Leu) | |
7 | g.117592058T>A | CA368978661 | CFTR | c.1891T>A (p.Ser631Thr) c.*1605T>A (n.*1605T>A) c.1708T>A (p.Ser570Thr) c.*191T>A (n.*191T>A) c.*1715T>A (n.*1715T>A) c.1465T>A (p.Ser489Thr) c.1402-10768T>A (n.1402-10768T>A) c.1801T>A (p.Ser601Thr) c.1981T>A (p.Ser661Thr) c.1648T>A (p.Ser550Thr) | |
7 | g.117592058T>C | CA368978666 | CFTR | c.1891T>C (p.Ser631Pro) c.*1605T>C (n.*1605T>C) c.1708T>C (p.Ser570Pro) c.*191T>C (n.*191T>C) c.*1715T>C (n.*1715T>C) c.1465T>C (p.Ser489Pro) c.1402-10768T>C (n.1402-10768T>C) c.1801T>C (p.Ser601Pro) c.1981T>C (p.Ser661Pro) c.1648T>C (p.Ser550Pro) | COSMIC |
7 | g.117592058T>G | CA368978664 | CFTR | c.1891T>G (p.Ser631Ala) c.*1605T>G (n.*1605T>G) c.1708T>G (p.Ser570Ala) c.*191T>G (n.*191T>G) c.*1715T>G (n.*1715T>G) c.1465T>G (p.Ser489Ala) c.1402-10768T>G (n.1402-10768T>G) c.1801T>G (p.Ser601Ala) c.1981T>G (p.Ser661Ala) c.1648T>G (p.Ser550Ala) | |
7 | g.117592059C>A | CA368978670 | CFTR | c.1892C>A (p.Ser631Ter) c.*1606C>A (n.*1606C>A) c.1709C>A (p.Ser570Ter) c.*192C>A (n.*192C>A) c.*1716C>A (n.*1716C>A) c.1466C>A (p.Ser489Ter) c.1402-10767C>A (n.1402-10767C>A) c.1802C>A (p.Ser601Ter) c.1982C>A (p.Ser661Ter) c.1649C>A (p.Ser550Ter) | |
7 | g.117592059C>G | CA368978674 | CFTR | c.1892C>G (p.Ser631Ter) c.*1606C>G (n.*1606C>G) c.1709C>G (p.Ser570Ter) c.*192C>G (n.*192C>G) c.*1716C>G (n.*1716C>G) c.1466C>G (p.Ser489Ter) c.1402-10767C>G (n.1402-10767C>G) c.1802C>G (p.Ser601Ter) c.1982C>G (p.Ser661Ter) c.1649C>G (p.Ser550Ter) | |
7 | g.117592059C>T | CA368978677 | CFTR | c.1892C>T (p.Ser631Leu) c.*1606C>T (n.*1606C>T) c.1709C>T (p.Ser570Leu) c.*192C>T (n.*192C>T) c.*1716C>T (n.*1716C>T) c.1466C>T (p.Ser489Leu) c.1402-10767C>T (n.1402-10767C>T) c.1802C>T (p.Ser601Leu) c.1982C>T (p.Ser661Leu) c.1649C>T (p.Ser550Leu) | |
7 | g.117592060_117592064del | CA2580076505 | CFTR | c.1893_1897del (p.Glu632ProfsTer8) c.*1607_*1611del (n.*1607_*1611del) c.1710_1714del (p.Glu571ProfsTer8) c.*193_*197del (n.*193_*197del) c.*1717_*1721del (n.*1717_*1721del) c.1467_1471del (p.Glu490ProfsTer8) c.1402-10766_1402-10762del (n.1402-10766_1402-10762del) c.1803_1807del (p.Glu602ProfsTer8) c.1983_1987del (p.Glu662ProfsTer8) c.1650_1654del (p.Glu551ProfsTer8) | ClinVar |
7 | g.117592060A>C | CA457448872 | CFTR | c.1893A>C (p.Ser631=) c.*1607A>C (n.*1607A>C) c.1710A>C (p.Ser570=) c.*193A>C (n.*193A>C) c.*1717A>C (n.*1717A>C) c.1467A>C (p.Ser489=) c.1402-10766A>C (n.1402-10766A>C) c.1803A>C (p.Ser601=) c.1983A>C (p.Ser661=) c.1650A>C (p.Ser550=) | |
7 | g.117592060A>G | CA457448874 | CFTR | c.1893A>G (p.Ser631=) c.*1607A>G (n.*1607A>G) c.1710A>G (p.Ser570=) c.*193A>G (n.*193A>G) c.*1717A>G (n.*1717A>G) c.1467A>G (p.Ser489=) c.1402-10766A>G (n.1402-10766A>G) c.1803A>G (p.Ser601=) c.1983A>G (p.Ser661=) c.1650A>G (p.Ser550=) | |
7 | g.117592060A>T | CA457448873 | CFTR | c.1893A>T (p.Ser631=) c.*1607A>T (n.*1607A>T) c.1710A>T (p.Ser570=) c.*193A>T (n.*193A>T) c.*1717A>T (n.*1717A>T) c.1467A>T (p.Ser489=) c.1402-10766A>T (n.1402-10766A>T) c.1803A>T (p.Ser601=) c.1983A>T (p.Ser661=) c.1650A>T (p.Ser550=) | |
7 | g.117592061G>A | CA368978681 | CFTR | c.1894G>A (p.Glu632Lys) c.*1608G>A (n.*1608G>A) c.1711G>A (p.Glu571Lys) c.*194G>A (n.*194G>A) c.*1718G>A (n.*1718G>A) c.1468G>A (p.Glu490Lys) c.1402-10765G>A (n.1402-10765G>A) c.1804G>A (p.Glu602Lys) c.1984G>A (p.Glu662Lys) c.1651G>A (p.Glu551Lys) | gnomAD v4 |
7 | g.117592061G>C | CA368978683 | CFTR | c.1894G>C (p.Glu632Gln) c.*1608G>C (n.*1608G>C) c.1711G>C (p.Glu571Gln) c.*194G>C (n.*194G>C) c.*1718G>C (n.*1718G>C) c.1468G>C (p.Glu490Gln) c.1402-10765G>C (n.1402-10765G>C) c.1804G>C (p.Glu602Gln) c.1984G>C (p.Glu662Gln) c.1651G>C (p.Glu551Gln) | |
7 | g.117592061G>T | CA368978686 | CFTR | c.1894G>T (p.Glu632Ter) c.*1608G>T (n.*1608G>T) c.1711G>T (p.Glu571Ter) c.*194G>T (n.*194G>T) c.*1718G>T (n.*1718G>T) c.1468G>T (p.Glu490Ter) c.1402-10765G>T (n.1402-10765G>T) c.1804G>T (p.Glu602Ter) c.1984G>T (p.Glu662Ter) c.1651G>T (p.Glu551Ter) | |
7 | g.117592062A>C | CA368978690 | CFTR | c.1895A>C (p.Glu632Ala) c.*1609A>C (n.*1609A>C) c.1712A>C (p.Glu571Ala) c.*195A>C (n.*195A>C) c.*1719A>C (n.*1719A>C) c.1469A>C (p.Glu490Ala) c.1402-10764A>C (n.1402-10764A>C) c.1805A>C (p.Glu602Ala) c.1985A>C (p.Glu662Ala) c.1652A>C (p.Glu551Ala) | |
7 | g.117592062A>G | CA368978694 | CFTR | c.1895A>G (p.Glu632Gly) c.*1609A>G (n.*1609A>G) c.1712A>G (p.Glu571Gly) c.*195A>G (n.*195A>G) c.*1719A>G (n.*1719A>G) c.1469A>G (p.Glu490Gly) c.1402-10764A>G (n.1402-10764A>G) c.1805A>G (p.Glu602Gly) c.1985A>G (p.Glu662Gly) c.1652A>G (p.Glu551Gly) | |
7 | g.117592062A>T | CA368978697 | CFTR | c.1895A>T (p.Glu632Val) c.*1609A>T (n.*1609A>T) c.1712A>T (p.Glu571Val) c.*195A>T (n.*195A>T) c.*1719A>T (n.*1719A>T) c.1469A>T (p.Glu490Val) c.1402-10764A>T (n.1402-10764A>T) c.1805A>T (p.Glu602Val) c.1985A>T (p.Glu662Val) c.1652A>T (p.Glu551Val) | |
7 | g.117592063A>C | CA368978699 | CFTR | c.1896A>C (p.Glu632Asp) c.*1610A>C (n.*1610A>C) c.1713A>C (p.Glu571Asp) c.*196A>C (n.*196A>C) c.*1720A>C (n.*1720A>C) c.1470A>C (p.Glu490Asp) c.1402-10763A>C (n.1402-10763A>C) c.1806A>C (p.Glu602Asp) c.1986A>C (p.Glu662Asp) c.1653A>C (p.Glu551Asp) | |
7 | g.117592063A>G | CA457448875 | CFTR | c.1896A>G (p.Glu632=) c.*1610A>G (n.*1610A>G) c.1713A>G (p.Glu571=) c.*196A>G (n.*196A>G) c.*1720A>G (n.*1720A>G) c.1470A>G (p.Glu490=) c.1402-10763A>G (n.1402-10763A>G) c.1806A>G (p.Glu602=) c.1986A>G (p.Glu662=) c.1653A>G (p.Glu551=) | |
7 | g.117592063A>T | CA368978701 | CFTR | c.1896A>T (p.Glu632Asp) c.*1610A>T (n.*1610A>T) c.1713A>T (p.Glu571Asp) c.*196A>T (n.*196A>T) c.*1720A>T (n.*1720A>T) c.1470A>T (p.Glu490Asp) c.1402-10763A>T (n.1402-10763A>T) c.1806A>T (p.Glu602Asp) c.1986A>T (p.Glu662Asp) c.1653A>T (p.Glu551Asp) | |
7 | g.117592064C>A | CA326708 | CFTR | c.1897C>A (p.Leu633Ile) c.*1611C>A (n.*1611C>A) c.1714C>A (p.Leu572Ile) c.*197C>A (n.*197C>A) c.*1721C>A (n.*1721C>A) c.1471C>A (p.Leu491Ile) c.1402-10762C>A (n.1402-10762C>A) c.1807C>A (p.Leu603Ile) c.1987C>A (p.Leu663Ile) c.1654C>A (p.Leu552Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592064C= | CA1737394103 | CFTR | c.1897C= (p.Leu633=) c.*1611C= (n.*1611C=) c.1714C= (p.Leu572=) c.*197C= (n.*197C=) c.*1721C= (n.*1721C=) c.1471C= (p.Leu491=) c.1402-10762C= (n.1402-10762C=) c.1807C= (p.Leu603=) c.1987C= (p.Leu663=) c.1654C= (p.Leu552=) | |
7 | g.117592064C>G | CA368978706 | CFTR | c.1897C>G (p.Leu633Val) c.*1611C>G (n.*1611C>G) c.1714C>G (p.Leu572Val) c.*197C>G (n.*197C>G) c.*1721C>G (n.*1721C>G) c.1471C>G (p.Leu491Val) c.1402-10762C>G (n.1402-10762C>G) c.1807C>G (p.Leu603Val) c.1987C>G (p.Leu663Val) c.1654C>G (p.Leu552Val) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592064C>T | CA368978704 | CFTR | c.1897C>T (p.Leu633Phe) c.*1611C>T (n.*1611C>T) c.1714C>T (p.Leu572Phe) c.*197C>T (n.*197C>T) c.*1721C>T (n.*1721C>T) c.1471C>T (p.Leu491Phe) c.1402-10762C>T (n.1402-10762C>T) c.1807C>T (p.Leu603Phe) c.1987C>T (p.Leu663Phe) c.1654C>T (p.Leu552Phe) | |
7 | g.117592065T>A | CA368978707 | CFTR | c.1898T>A (p.Leu633His) c.*1612T>A (n.*1612T>A) c.1715T>A (p.Leu572His) c.*198T>A (n.*198T>A) c.*1722T>A (n.*1722T>A) c.1472T>A (p.Leu491His) c.1402-10761T>A (n.1402-10761T>A) c.1808T>A (p.Leu603His) c.1988T>A (p.Leu663His) c.1655T>A (p.Leu552His) | |
7 | g.117592065T>C | CA326710 | CFTR | c.1898T>C (p.Leu633Pro) c.*1612T>C (n.*1612T>C) c.1715T>C (p.Leu572Pro) c.*198T>C (n.*198T>C) c.*1722T>C (n.*1722T>C) c.1472T>C (p.Leu491Pro) c.1402-10761T>C (n.1402-10761T>C) c.1808T>C (p.Leu603Pro) c.1988T>C (p.Leu663Pro) c.1655T>C (p.Leu552Pro) | ClinVar dbSNP |
7 | g.117592065T>G | CA368978710 | CFTR | c.1898T>G (p.Leu633Arg) c.*1612T>G (n.*1612T>G) c.1715T>G (p.Leu572Arg) c.*198T>G (n.*198T>G) c.*1722T>G (n.*1722T>G) c.1472T>G (p.Leu491Arg) c.1402-10761T>G (n.1402-10761T>G) c.1808T>G (p.Leu603Arg) c.1988T>G (p.Leu663Arg) c.1655T>G (p.Leu552Arg) | |
7 | g.117592065T= | CA1737394109 | CFTR | c.1898T= (p.Leu633=) c.*1612T= (n.*1612T=) c.1715T= (p.Leu572=) c.*198T= (n.*198T=) c.*1722T= (n.*1722T=) c.1472T= (p.Leu491=) c.1402-10761T= (n.1402-10761T=) c.1808T= (p.Leu603=) c.1988T= (p.Leu663=) c.1655T= (p.Leu552=) | |
7 | g.117592066C>A | CA457448876 | CFTR | c.1899C>A (p.Leu633=) c.*1613C>A (n.*1613C>A) c.1716C>A (p.Leu572=) c.*199C>A (n.*199C>A) c.*1723C>A (n.*1723C>A) c.1473C>A (p.Leu491=) c.1402-10760C>A (n.1402-10760C>A) c.1809C>A (p.Leu603=) c.1989C>A (p.Leu663=) c.1656C>A (p.Leu552=) | |
7 | g.117592066C= | CA1737394115 | CFTR | c.1899C= (p.Leu633=) c.*1613C= (n.*1613C=) c.1716C= (p.Leu572=) c.*199C= (n.*199C=) c.*1723C= (n.*1723C=) c.1473C= (p.Leu491=) c.1402-10760C= (n.1402-10760C=) c.1809C= (p.Leu603=) c.1989C= (p.Leu663=) c.1656C= (p.Leu552=) | |
7 | g.117592066C>G | CA457448877 | CFTR | c.1899C>G (p.Leu633=) c.*1613C>G (n.*1613C>G) c.1716C>G (p.Leu572=) c.*199C>G (n.*199C>G) c.*1723C>G (n.*1723C>G) c.1473C>G (p.Leu491=) c.1402-10760C>G (n.1402-10760C>G) c.1809C>G (p.Leu603=) c.1989C>G (p.Leu663=) c.1656C>G (p.Leu552=) | |
7 | g.117592066C>T | CA457448878 | CFTR | c.1899C>T (p.Leu633=) c.*1613C>T (n.*1613C>T) c.1716C>T (p.Leu572=) c.*199C>T (n.*199C>T) c.*1723C>T (n.*1723C>T) c.1473C>T (p.Leu491=) c.1402-10760C>T (n.1402-10760C>T) c.1809C>T (p.Leu603=) c.1989C>T (p.Leu663=) c.1656C>T (p.Leu552=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
7 | g.117592067C>A | CA368978712 | CFTR | c.1900C>A (p.Gln634Lys) c.*1614C>A (n.*1614C>A) c.1717C>A (p.Gln573Lys) c.*200C>A (n.*200C>A) c.*1724C>A (n.*1724C>A) c.1474C>A (p.Gln492Lys) c.1402-10759C>A (n.1402-10759C>A) c.1810C>A (p.Gln604Lys) c.1990C>A (p.Gln664Lys) c.1657C>A (p.Gln553Lys) | |
7 | g.117592067C= | CA1737394120 | CFTR | c.1900C= (p.Gln634=) c.*1614C= (n.*1614C=) c.1717C= (p.Gln573=) c.*200C= (n.*200C=) c.*1724C= (n.*1724C=) c.1474C= (p.Gln492=) c.1402-10759C= (n.1402-10759C=) c.1810C= (p.Gln604=) c.1990C= (p.Gln664=) c.1657C= (p.Gln553=) | |
7 | g.117592067C>G | CA368978714 | CFTR | c.1900C>G (p.Gln634Glu) c.*1614C>G (n.*1614C>G) c.1717C>G (p.Gln573Glu) c.*200C>G (n.*200C>G) c.*1724C>G (n.*1724C>G) c.1474C>G (p.Gln492Glu) c.1402-10759C>G (n.1402-10759C>G) c.1810C>G (p.Gln604Glu) c.1990C>G (p.Gln664Glu) c.1657C>G (p.Gln553Glu) | |
7 | g.117592067C>T | CA326711 | CFTR | c.1900C>T (p.Gln634Ter) c.*1614C>T (n.*1614C>T) c.1717C>T (p.Gln573Ter) c.*200C>T (n.*200C>T) c.*1724C>T (n.*1724C>T) c.1474C>T (p.Gln492Ter) c.1402-10759C>T (n.1402-10759C>T) c.1810C>T (p.Gln604Ter) c.1990C>T (p.Gln664Ter) c.1657C>T (p.Gln553Ter) | dbSNP |
7 | g.117592067_117592068delinsCA | CA1737394121 | CFTR | c.1900_1901delinsCA (p.Gln634=) c.*1614_*1615delinsCA (n.*1614_*1615delinsCA) c.1717_1718delinsCA (p.Gln573=) c.*200_*201delinsCA (n.*200_*201delinsCA) c.*1724_*1725delinsCA (n.*1724_*1725delinsCA) c.1474_1475delinsCA (p.Gln492=) c.1402-10759_1402-10758delinsCA (n.1402-10759_1402-10758delinsCA) c.1810_1811delinsCA (p.Gln604=) c.1990_1991delinsCA (p.Gln664=) c.1657_1658delinsCA (p.Gln553=) | |
7 | g.117592068A>C | CA368978717 | CFTR | c.1901A>C (p.Gln634Pro) c.*1615A>C (n.*1615A>C) c.1718A>C (p.Gln573Pro) c.*201A>C (n.*201A>C) c.*1725A>C (n.*1725A>C) c.1475A>C (p.Gln492Pro) c.1402-10758A>C (n.1402-10758A>C) c.1811A>C (p.Gln604Pro) c.1991A>C (p.Gln664Pro) c.1658A>C (p.Gln553Pro) | |
7 | g.117592068A>G | CA368978719 | CFTR | c.1901A>G (p.Gln634Arg) c.*1615A>G (n.*1615A>G) c.1718A>G (p.Gln573Arg) c.*201A>G (n.*201A>G) c.*1725A>G (n.*1725A>G) c.1475A>G (p.Gln492Arg) c.1402-10758A>G (n.1402-10758A>G) c.1811A>G (p.Gln604Arg) c.1991A>G (p.Gln664Arg) c.1658A>G (p.Gln553Arg) | |
7 | g.117592068A>T | CA368978720 | CFTR | c.1901A>T (p.Gln634Leu) c.*1615A>T (n.*1615A>T) c.1718A>T (p.Gln573Leu) c.*201A>T (n.*201A>T) c.*1725A>T (n.*1725A>T) c.1475A>T (p.Gln492Leu) c.1402-10758A>T (n.1402-10758A>T) c.1811A>T (p.Gln604Leu) c.1991A>T (p.Gln664Leu) c.1658A>T (p.Gln553Leu) | |
7 | g.117592071del | CA577680754 | CFTR | c.1904del (p.Asn635IlefsTer28) c.*1618del (n.*1618del) c.1721del (p.Asn574IlefsTer28) c.*204del (n.*204del) c.*1728del (n.*1728del) c.1478del (p.Asn493IlefsTer28) c.1402-10755del (n.1402-10755del) c.1814del (p.Asn605IlefsTer28) c.1994del (p.Asn665IlefsTer28) c.1661del (p.Asn554IlefsTer28) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592069A>C | CA368978721 | CFTR | c.1902A>C (p.Gln634His) c.*1616A>C (n.*1616A>C) c.1719A>C (p.Gln573His) c.*202A>C (n.*202A>C) c.*1726A>C (n.*1726A>C) c.1476A>C (p.Gln492His) c.1402-10757A>C (n.1402-10757A>C) c.1812A>C (p.Gln604His) c.1992A>C (p.Gln664His) c.1659A>C (p.Gln553His) | ClinVar |
7 | g.117592069A>G | CA457448879 | CFTR | c.1902A>G (p.Gln634=) c.*1616A>G (n.*1616A>G) c.1719A>G (p.Gln573=) c.*202A>G (n.*202A>G) c.*1726A>G (n.*1726A>G) c.1476A>G (p.Gln492=) c.1402-10757A>G (n.1402-10757A>G) c.1812A>G (p.Gln604=) c.1992A>G (p.Gln664=) c.1659A>G (p.Gln553=) | ClinVar dbSNP |
7 | g.117592069A>T | CA368978722 | CFTR | c.1902A>T (p.Gln634His) c.*1616A>T (n.*1616A>T) c.1719A>T (p.Gln573His) c.*202A>T (n.*202A>T) c.*1726A>T (n.*1726A>T) c.1476A>T (p.Gln492His) c.1402-10757A>T (n.1402-10757A>T) c.1812A>T (p.Gln604His) c.1992A>T (p.Gln664His) c.1659A>T (p.Gln553His) | |
7 | g.117592070A>C | CA368978728 | CFTR | c.1903A>C (p.Asn635His) c.*1617A>C (n.*1617A>C) c.1720A>C (p.Asn574His) c.*203A>C (n.*203A>C) c.*1727A>C (n.*1727A>C) c.1477A>C (p.Asn493His) c.1402-10756A>C (n.1402-10756A>C) c.1813A>C (p.Asn605His) c.1993A>C (p.Asn665His) c.1660A>C (p.Asn554His) | |
7 | g.117592070A>G | CA368978726 | CFTR | c.1903A>G (p.Asn635Asp) c.*1617A>G (n.*1617A>G) c.1720A>G (p.Asn574Asp) c.*203A>G (n.*203A>G) c.*1727A>G (n.*1727A>G) c.1477A>G (p.Asn493Asp) c.1402-10756A>G (n.1402-10756A>G) c.1813A>G (p.Asn605Asp) c.1993A>G (p.Asn665Asp) c.1660A>G (p.Asn554Asp) | |
7 | g.117592070A>T | CA368978725 | CFTR | c.1903A>T (p.Asn635Tyr) c.*1617A>T (n.*1617A>T) c.1720A>T (p.Asn574Tyr) c.*203A>T (n.*203A>T) c.*1727A>T (n.*1727A>T) c.1477A>T (p.Asn493Tyr) c.1402-10756A>T (n.1402-10756A>T) c.1813A>T (p.Asn605Tyr) c.1993A>T (p.Asn665Tyr) c.1660A>T (p.Asn554Tyr) | |
7 | g.117592071A= | CA1737394129 | CFTR | c.1904A= (p.Asn635=) c.*1618A= (n.*1618A=) c.1721A= (p.Asn574=) c.*204A= (n.*204A=) c.*1728A= (n.*1728A=) c.1478A= (p.Asn493=) c.1402-10755A= (n.1402-10755A=) c.1814A= (p.Asn605=) c.1994A= (p.Asn665=) c.1661A= (p.Asn554=) | |
7 | g.117592071A>C | CA368978732 | CFTR | c.1904A>C (p.Asn635Thr) c.*1618A>C (n.*1618A>C) c.1721A>C (p.Asn574Thr) c.*204A>C (n.*204A>C) c.*1728A>C (n.*1728A>C) c.1478A>C (p.Asn493Thr) c.1402-10755A>C (n.1402-10755A>C) c.1814A>C (p.Asn605Thr) c.1994A>C (p.Asn665Thr) c.1661A>C (p.Asn554Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592071A>G | CA368978735 | CFTR | c.1904A>G (p.Asn635Ser) c.*1618A>G (n.*1618A>G) c.1721A>G (p.Asn574Ser) c.*204A>G (n.*204A>G) c.*1728A>G (n.*1728A>G) c.1478A>G (p.Asn493Ser) c.1402-10755A>G (n.1402-10755A>G) c.1814A>G (p.Asn605Ser) c.1994A>G (p.Asn665Ser) c.1661A>G (p.Asn554Ser) | |
7 | g.117592071A>T | CA368978736 | CFTR | c.1904A>T (p.Asn635Ile) c.*1618A>T (n.*1618A>T) c.1721A>T (p.Asn574Ile) c.*204A>T (n.*204A>T) c.*1728A>T (n.*1728A>T) c.1478A>T (p.Asn493Ile) c.1402-10755A>T (n.1402-10755A>T) c.1814A>T (p.Asn605Ile) c.1994A>T (p.Asn665Ile) c.1661A>T (p.Asn554Ile) | |
7 | g.117592072T>A | CA368978738 | CFTR | c.1905T>A (p.Asn635Lys) c.*1619T>A (n.*1619T>A) c.1722T>A (p.Asn574Lys) c.*205T>A (n.*205T>A) c.*1729T>A (n.*1729T>A) c.1479T>A (p.Asn493Lys) c.1402-10754T>A (n.1402-10754T>A) c.1815T>A (p.Asn605Lys) c.1995T>A (p.Asn665Lys) c.1662T>A (p.Asn554Lys) | ClinVar |
7 | g.117592072T>C | CA457448880 | CFTR | c.1905T>C (p.Asn635=) c.*1619T>C (n.*1619T>C) c.1722T>C (p.Asn574=) c.*205T>C (n.*205T>C) c.*1729T>C (n.*1729T>C) c.1479T>C (p.Asn493=) c.1402-10754T>C (n.1402-10754T>C) c.1815T>C (p.Asn605=) c.1995T>C (p.Asn665=) c.1662T>C (p.Asn554=) | ClinVar |
7 | g.117592072T>G | CA368978739 | CFTR | c.1905T>G (p.Asn635Lys) c.*1619T>G (n.*1619T>G) c.1722T>G (p.Asn574Lys) c.*205T>G (n.*205T>G) c.*1729T>G (n.*1729T>G) c.1479T>G (p.Asn493Lys) c.1402-10754T>G (n.1402-10754T>G) c.1815T>G (p.Asn605Lys) c.1995T>G (p.Asn665Lys) c.1662T>G (p.Asn554Lys) | |
7 | g.117592073C>A | CA368978741 | CFTR | c.1906C>A (p.Leu636Ile) c.*1620C>A (n.*1620C>A) c.1723C>A (p.Leu575Ile) c.*206C>A (n.*206C>A) c.*1730C>A (n.*1730C>A) c.1480C>A (p.Leu494Ile) c.1402-10753C>A (n.1402-10753C>A) c.1816C>A (p.Leu606Ile) c.1996C>A (p.Leu666Ile) c.1663C>A (p.Leu555Ile) | |
7 | g.117592073C>G | CA368978743 | CFTR | c.1906C>G (p.Leu636Val) c.*1620C>G (n.*1620C>G) c.1723C>G (p.Leu575Val) c.*206C>G (n.*206C>G) c.*1730C>G (n.*1730C>G) c.1480C>G (p.Leu494Val) c.1402-10753C>G (n.1402-10753C>G) c.1816C>G (p.Leu606Val) c.1996C>G (p.Leu666Val) c.1663C>G (p.Leu555Val) | |
7 | g.117592073C>T | CA457448881 | CFTR | c.1906C>T (p.Leu636=) c.*1620C>T (n.*1620C>T) c.1723C>T (p.Leu575=) c.*206C>T (n.*206C>T) c.*1730C>T (n.*1730C>T) c.1480C>T (p.Leu494=) c.1402-10753C>T (n.1402-10753C>T) c.1816C>T (p.Leu606=) c.1996C>T (p.Leu666=) c.1663C>T (p.Leu555=) | |
7 | g.117592074T>A | CA368978746 | CFTR | c.1907T>A (p.Leu636Gln) c.*1621T>A (n.*1621T>A) c.1724T>A (p.Leu575Gln) c.*207T>A (n.*207T>A) c.*1731T>A (n.*1731T>A) c.1481T>A (p.Leu494Gln) c.1402-10752T>A (n.1402-10752T>A) c.1817T>A (p.Leu606Gln) c.1997T>A (p.Leu666Gln) c.1664T>A (p.Leu555Gln) | |
7 | g.117592074T>C | CA4451111 | CFTR | c.1907T>C (p.Leu636Pro) c.*1621T>C (n.*1621T>C) c.1724T>C (p.Leu575Pro) c.*207T>C (n.*207T>C) c.*1731T>C (n.*1731T>C) c.1481T>C (p.Leu494Pro) c.1402-10752T>C (n.1402-10752T>C) c.1817T>C (p.Leu606Pro) c.1997T>C (p.Leu666Pro) c.1664T>C (p.Leu555Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592074T>G | CA368978749 | CFTR | c.1907T>G (p.Leu636Arg) c.*1621T>G (n.*1621T>G) c.1724T>G (p.Leu575Arg) c.*207T>G (n.*207T>G) c.*1731T>G (n.*1731T>G) c.1481T>G (p.Leu494Arg) c.1402-10752T>G (n.1402-10752T>G) c.1817T>G (p.Leu606Arg) c.1997T>G (p.Leu666Arg) c.1664T>G (p.Leu555Arg) | |
7 | g.117592074T= | CA1737394135 | CFTR | c.1907T= (p.Leu636=) c.*1621T= (n.*1621T=) c.1724T= (p.Leu575=) c.*207T= (n.*207T=) c.*1731T= (n.*1731T=) c.1481T= (p.Leu494=) c.1402-10752T= (n.1402-10752T=) c.1817T= (p.Leu606=) c.1997T= (p.Leu666=) c.1664T= (p.Leu555=) | |
7 | g.117592075A>C | CA457448882 | CFTR | c.1908A>C (p.Leu636=) c.*1622A>C (n.*1622A>C) c.1725A>C (p.Leu575=) c.*208A>C (n.*208A>C) c.*1732A>C (n.*1732A>C) c.1482A>C (p.Leu494=) c.1402-10751A>C (n.1402-10751A>C) c.1818A>C (p.Leu606=) c.1998A>C (p.Leu666=) c.1665A>C (p.Leu555=) | |
7 | g.117592075A>G | CA457448884 | CFTR | c.1908A>G (p.Leu636=) c.*1622A>G (n.*1622A>G) c.1725A>G (p.Leu575=) c.*208A>G (n.*208A>G) c.*1732A>G (n.*1732A>G) c.1482A>G (p.Leu494=) c.1402-10751A>G (n.1402-10751A>G) c.1818A>G (p.Leu606=) c.1998A>G (p.Leu666=) c.1665A>G (p.Leu555=) | gnomAD v4 |
7 | g.117592075A>T | CA457448883 | CFTR | c.1908A>T (p.Leu636=) c.*1622A>T (n.*1622A>T) c.1725A>T (p.Leu575=) c.*208A>T (n.*208A>T) c.*1732A>T (n.*1732A>T) c.1482A>T (p.Leu494=) c.1402-10751A>T (n.1402-10751A>T) c.1818A>T (p.Leu606=) c.1998A>T (p.Leu666=) c.1665A>T (p.Leu555=) | |
7 | g.117592076C>A | CA368978753 | CFTR | c.1909C>A (p.Gln637Lys) c.*1623C>A (n.*1623C>A) c.1726C>A (p.Gln576Lys) c.*209C>A (n.*209C>A) c.*1733C>A (n.*1733C>A) c.1483C>A (p.Gln495Lys) c.1402-10750C>A (n.1402-10750C>A) c.1819C>A (p.Gln607Lys) c.1999C>A (p.Gln667Lys) c.1666C>A (p.Gln556Lys) | ClinVar dbSNP gnomAD v4 |
7 | g.117592076C= | CA1737394141 | CFTR | c.1909C= (p.Gln637=) c.*1623C= (n.*1623C=) c.1726C= (p.Gln576=) c.*209C= (n.*209C=) c.*1733C= (n.*1733C=) c.1483C= (p.Gln495=) c.1402-10750C= (n.1402-10750C=) c.1819C= (p.Gln607=) c.1999C= (p.Gln667=) c.1666C= (p.Gln556=) | |
7 | g.117592076C>G | CA368978755 | CFTR | c.1909C>G (p.Gln637Glu) c.*1623C>G (n.*1623C>G) c.1726C>G (p.Gln576Glu) c.*209C>G (n.*209C>G) c.*1733C>G (n.*1733C>G) c.1483C>G (p.Gln495Glu) c.1402-10750C>G (n.1402-10750C>G) c.1819C>G (p.Gln607Glu) c.1999C>G (p.Gln667Glu) c.1666C>G (p.Gln556Glu) | |
7 | g.117592076C>T | CA326713 | CFTR | c.1909C>T (p.Gln637Ter) c.*1623C>T (n.*1623C>T) c.1726C>T (p.Gln576Ter) c.*209C>T (n.*209C>T) c.*1733C>T (n.*1733C>T) c.1483C>T (p.Gln495Ter) c.1402-10750C>T (n.1402-10750C>T) c.1819C>T (p.Gln607Ter) c.1999C>T (p.Gln667Ter) c.1666C>T (p.Gln556Ter) | ClinVar dbSNP |
7 | g.117592077A>C | CA368978758 | CFTR | c.1910A>C (p.Gln637Pro) c.*1624A>C (n.*1624A>C) c.1727A>C (p.Gln576Pro) c.*210A>C (n.*210A>C) c.*1734A>C (n.*1734A>C) c.1484A>C (p.Gln495Pro) c.1402-10749A>C (n.1402-10749A>C) c.1820A>C (p.Gln607Pro) c.2000A>C (p.Gln667Pro) c.1667A>C (p.Gln556Pro) | |
7 | g.117592077A>G | CA368978759 | CFTR | c.1910A>G (p.Gln637Arg) c.*1624A>G (n.*1624A>G) c.1727A>G (p.Gln576Arg) c.*210A>G (n.*210A>G) c.*1734A>G (n.*1734A>G) c.1484A>G (p.Gln495Arg) c.1402-10749A>G (n.1402-10749A>G) c.1820A>G (p.Gln607Arg) c.2000A>G (p.Gln667Arg) c.1667A>G (p.Gln556Arg) | dbSNP |
7 | g.117592077A>T | CA368978757 | CFTR | c.1910A>T (p.Gln637Leu) c.*1624A>T (n.*1624A>T) c.1727A>T (p.Gln576Leu) c.*210A>T (n.*210A>T) c.*1734A>T (n.*1734A>T) c.1484A>T (p.Gln495Leu) c.1402-10749A>T (n.1402-10749A>T) c.1820A>T (p.Gln607Leu) c.2000A>T (p.Gln667Leu) c.1667A>T (p.Gln556Leu) | |
7 | g.117592077_117592078delinsAG | CA1737394147 | CFTR | c.1910_1911delinsAG (p.Gln637=) c.*1624_*1625delinsAG (n.*1624_*1625delinsAG) c.1727_1728delinsAG (p.Gln576=) c.*210_*211delinsAG (n.*210_*211delinsAG) c.*1734_*1735delinsAG (n.*1734_*1735delinsAG) c.1484_1485delinsAG (p.Gln495=) c.1402-10749_1402-10748delinsAG (n.1402-10749_1402-10748delinsAG) c.1820_1821delinsAG (p.Gln607=) c.2000_2001delinsAG (p.Gln667=) c.1667_1668delinsAG (p.Gln556=) | |
7 | g.117592078del | CA325698 | CFTR | c.1911del (p.Gln637HisfsTer26) c.*1625del (n.*1625del) c.1728del (p.Gln576HisfsTer26) c.*211del (n.*211del) c.*1735del (n.*1735del) c.1485del (p.Gln495HisfsTer26) c.1402-10748del (n.1402-10748del) c.1821del (p.Gln607HisfsTer26) c.2001del (p.Gln667HisfsTer26) c.1668del (p.Gln556HisfsTer26) | ClinVar dbSNP gnomAD v4 |
7 | g.117592078G>A | CA457448885 | CFTR | c.1911G>A (p.Gln637=) c.*1625G>A (n.*1625G>A) c.1728G>A (p.Gln576=) c.*211G>A (n.*211G>A) c.*1735G>A (n.*1735G>A) c.1485G>A (p.Gln495=) c.1402-10748G>A (n.1402-10748G>A) c.1821G>A (p.Gln607=) c.2001G>A (p.Gln667=) c.1668G>A (p.Gln556=) | |
7 | g.117592078G>C | CA164947579 | CFTR | c.1911G>C (p.Gln637His) c.*1625G>C (n.*1625G>C) c.1728G>C (p.Gln576His) c.*211G>C (n.*211G>C) c.*1735G>C (n.*1735G>C) c.1485G>C (p.Gln495His) c.1402-10748G>C (n.1402-10748G>C) c.1821G>C (p.Gln607His) c.2001G>C (p.Gln667His) c.1668G>C (p.Gln556His) | |
7 | g.117592078G>T | CA368978761 | CFTR | c.1911G>T (p.Gln637His) c.*1625G>T (n.*1625G>T) c.1728G>T (p.Gln576His) c.*211G>T (n.*211G>T) c.*1735G>T (n.*1735G>T) c.1485G>T (p.Gln495His) c.1402-10748G>T (n.1402-10748G>T) c.1821G>T (p.Gln607His) c.2001G>T (p.Gln667His) c.1668G>T (p.Gln556His) | |
7 | g.117592079C>A | CA368978765 | CFTR | c.1912C>A (p.Pro638Thr) c.*1626C>A (n.*1626C>A) c.1729C>A (p.Pro577Thr) c.*212C>A (n.*212C>A) c.*1736C>A (n.*1736C>A) c.1486C>A (p.Pro496Thr) c.1402-10747C>A (n.1402-10747C>A) c.1822C>A (p.Pro608Thr) c.2002C>A (p.Pro668Thr) c.1669C>A (p.Pro557Thr) | |
7 | g.117592079C= | CA1737394156 | CFTR | c.1912C= (p.Pro638=) c.*1626C= (n.*1626C=) c.1729C= (p.Pro577=) c.*212C= (n.*212C=) c.*1736C= (n.*1736C=) c.1486C= (p.Pro496=) c.1402-10747C= (n.1402-10747C=) c.1822C= (p.Pro608=) c.2002C= (p.Pro668=) c.1669C= (p.Pro557=) | |
7 | g.117592079C>G | CA368978766 | CFTR | c.1912C>G (p.Pro638Ala) c.*1626C>G (n.*1626C>G) c.1729C>G (p.Pro577Ala) c.*212C>G (n.*212C>G) c.*1736C>G (n.*1736C>G) c.1486C>G (p.Pro496Ala) c.1402-10747C>G (n.1402-10747C>G) c.1822C>G (p.Pro608Ala) c.2002C>G (p.Pro668Ala) c.1669C>G (p.Pro557Ala) | |
7 | g.117592079C>T | CA368978768 | CFTR | c.1912C>T (p.Pro638Ser) c.*1626C>T (n.*1626C>T) c.1729C>T (p.Pro577Ser) c.*212C>T (n.*212C>T) c.*1736C>T (n.*1736C>T) c.1486C>T (p.Pro496Ser) c.1402-10747C>T (n.1402-10747C>T) c.1822C>T (p.Pro608Ser) c.2002C>T (p.Pro668Ser) c.1669C>T (p.Pro557Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592080C>A | CA368978772 | CFTR | c.1913C>A (p.Pro638Gln) c.*1627C>A (n.*1627C>A) c.1730C>A (p.Pro577Gln) c.*213C>A (n.*213C>A) c.*1737C>A (n.*1737C>A) c.1487C>A (p.Pro496Gln) c.1402-10746C>A (n.1402-10746C>A) c.1823C>A (p.Pro608Gln) c.2003C>A (p.Pro668Gln) c.1670C>A (p.Pro557Gln) | |
7 | g.117592080C= | CA1737394166 | CFTR | c.1913C= (p.Pro638=) c.*1627C= (n.*1627C=) c.1730C= (p.Pro577=) c.*213C= (n.*213C=) c.*1737C= (n.*1737C=) c.1487C= (p.Pro496=) c.1402-10746C= (n.1402-10746C=) c.1823C= (p.Pro608=) c.2003C= (p.Pro668=) c.1670C= (p.Pro557=) | |
7 | g.117592080C>G | CA368978774 | CFTR | c.1913C>G (p.Pro638Arg) c.*1627C>G (n.*1627C>G) c.1730C>G (p.Pro577Arg) c.*213C>G (n.*213C>G) c.*1737C>G (n.*1737C>G) c.1487C>G (p.Pro496Arg) c.1402-10746C>G (n.1402-10746C>G) c.1823C>G (p.Pro608Arg) c.2003C>G (p.Pro668Arg) c.1670C>G (p.Pro557Arg) | |
7 | g.117592080C>T | CA368978775 | CFTR | c.1913C>T (p.Pro638Leu) c.*1627C>T (n.*1627C>T) c.1730C>T (p.Pro577Leu) c.*213C>T (n.*213C>T) c.*1737C>T (n.*1737C>T) c.1487C>T (p.Pro496Leu) c.1402-10746C>T (n.1402-10746C>T) c.1823C>T (p.Pro608Leu) c.2003C>T (p.Pro668Leu) c.1670C>T (p.Pro557Leu) | ClinVar dbSNP |
7 | g.117592081A>C | CA457448886 | CFTR | c.1914A>C (p.Pro638=) c.*1628A>C (n.*1628A>C) c.1731A>C (p.Pro577=) c.*214A>C (n.*214A>C) c.*1738A>C (n.*1738A>C) c.1488A>C (p.Pro496=) c.1402-10745A>C (n.1402-10745A>C) c.1824A>C (p.Pro608=) c.2004A>C (p.Pro668=) c.1671A>C (p.Pro557=) | |
7 | g.117592081A>G | CA457448888 | CFTR | c.1914A>G (p.Pro638=) c.*1628A>G (n.*1628A>G) c.1731A>G (p.Pro577=) c.*214A>G (n.*214A>G) c.*1738A>G (n.*1738A>G) c.1488A>G (p.Pro496=) c.1402-10745A>G (n.1402-10745A>G) c.1824A>G (p.Pro608=) c.2004A>G (p.Pro668=) c.1671A>G (p.Pro557=) | |
7 | g.117592081A>T | CA457448887 | CFTR | c.1914A>T (p.Pro638=) c.*1628A>T (n.*1628A>T) c.1731A>T (p.Pro577=) c.*214A>T (n.*214A>T) c.*1738A>T (n.*1738A>T) c.1488A>T (p.Pro496=) c.1402-10745A>T (n.1402-10745A>T) c.1824A>T (p.Pro608=) c.2004A>T (p.Pro668=) c.1671A>T (p.Pro557=) | |
7 | g.117592082G>A | CA368978778 | CFTR | c.1915G>A (p.Asp639Asn) c.*1629G>A (n.*1629G>A) c.1732G>A (p.Asp578Asn) c.*215G>A (n.*215G>A) c.*1739G>A (n.*1739G>A) c.1489G>A (p.Asp497Asn) c.1402-10744G>A (n.1402-10744G>A) c.1825G>A (p.Asp609Asn) c.2005G>A (p.Asp669Asn) c.1672G>A (p.Asp558Asn) | |
7 | g.117592082G>C | CA368978780 | CFTR | c.1915G>C (p.Asp639His) c.*1629G>C (n.*1629G>C) c.1732G>C (p.Asp578His) c.*215G>C (n.*215G>C) c.*1739G>C (n.*1739G>C) c.1489G>C (p.Asp497His) c.1402-10744G>C (n.1402-10744G>C) c.1825G>C (p.Asp609His) c.2005G>C (p.Asp669His) c.1672G>C (p.Asp558His) | ClinVar |
7 | g.117592082G= | CA1737394172 | CFTR | c.1915G= (p.Asp639=) c.*1629G= (n.*1629G=) c.1732G= (p.Asp578=) c.*215G= (n.*215G=) c.*1739G= (n.*1739G=) c.1489G= (p.Asp497=) c.1402-10744G= (n.1402-10744G=) c.1825G= (p.Asp609=) c.2005G= (p.Asp669=) c.1672G= (p.Asp558=) | |
7 | g.117592082G>T | CA326715 | CFTR | c.1915G>T (p.Asp639Tyr) c.*1629G>T (n.*1629G>T) c.1732G>T (p.Asp578Tyr) c.*215G>T (n.*215G>T) c.*1739G>T (n.*1739G>T) c.1489G>T (p.Asp497Tyr) c.1402-10744G>T (n.1402-10744G>T) c.1825G>T (p.Asp609Tyr) c.2005G>T (p.Asp669Tyr) c.1672G>T (p.Asp558Tyr) | dbSNP |
7 | g.117592083A>C | CA368978782 | CFTR | c.1916A>C (p.Asp639Ala) c.*1630A>C (n.*1630A>C) c.1733A>C (p.Asp578Ala) c.*216A>C (n.*216A>C) c.*1740A>C (n.*1740A>C) c.1490A>C (p.Asp497Ala) c.1402-10743A>C (n.1402-10743A>C) c.1826A>C (p.Asp609Ala) c.2006A>C (p.Asp669Ala) c.1673A>C (p.Asp558Ala) | |
7 | g.117592083A>G | CA368978784 | CFTR | c.1916A>G (p.Asp639Gly) c.*1630A>G (n.*1630A>G) c.1733A>G (p.Asp578Gly) c.*216A>G (n.*216A>G) c.*1740A>G (n.*1740A>G) c.1490A>G (p.Asp497Gly) c.1402-10743A>G (n.1402-10743A>G) c.1826A>G (p.Asp609Gly) c.2006A>G (p.Asp669Gly) c.1673A>G (p.Asp558Gly) | |
7 | g.117592083A>T | CA368978786 | CFTR | c.1916A>T (p.Asp639Val) c.*1630A>T (n.*1630A>T) c.1733A>T (p.Asp578Val) c.*216A>T (n.*216A>T) c.*1740A>T (n.*1740A>T) c.1490A>T (p.Asp497Val) c.1402-10743A>T (n.1402-10743A>T) c.1826A>T (p.Asp609Val) c.2006A>T (p.Asp669Val) c.1673A>T (p.Asp558Val) | |
7 | g.117592084C>A | CA368978790 | CFTR | c.1917C>A (p.Asp639Glu) c.*1631C>A (n.*1631C>A) c.1734C>A (p.Asp578Glu) c.*217C>A (n.*217C>A) c.*1741C>A (n.*1741C>A) c.1491C>A (p.Asp497Glu) c.1402-10742C>A (n.1402-10742C>A) c.1827C>A (p.Asp609Glu) c.2007C>A (p.Asp669Glu) c.1674C>A (p.Asp558Glu) | |
7 | g.117592084C>G | CA368978792 | CFTR | c.1917C>G (p.Asp639Glu) c.*1631C>G (n.*1631C>G) c.1734C>G (p.Asp578Glu) c.*217C>G (n.*217C>G) c.*1741C>G (n.*1741C>G) c.1491C>G (p.Asp497Glu) c.1402-10742C>G (n.1402-10742C>G) c.1827C>G (p.Asp609Glu) c.2007C>G (p.Asp669Glu) c.1674C>G (p.Asp558Glu) | |
7 | g.117592084C>T | CA457448889 | CFTR | c.1917C>T (p.Asp639=) c.*1631C>T (n.*1631C>T) c.1734C>T (p.Asp578=) c.*217C>T (n.*217C>T) c.*1741C>T (n.*1741C>T) c.1491C>T (p.Asp497=) c.1402-10742C>T (n.1402-10742C>T) c.1827C>T (p.Asp609=) c.2007C>T (p.Asp669=) c.1674C>T (p.Asp558=) | |
7 | g.117592084_117592086delinsCTT | CA1737394175 | CFTR | c.1917_1919delinsCTT (p.Asp639=) c.*1631_*1633delinsCTT (n.*1631_*1633delinsCTT) c.1734_1736delinsCTT (p.Asp578=) c.*217_*219delinsCTT (n.*217_*219delinsCTT) c.*1741_*1743delinsCTT (n.*1741_*1743delinsCTT) c.1491_1493delinsCTT (p.Asp497=) c.1402-10742_1402-10740delinsCTT (n.1402-10742_1402-10740delinsCTT) c.1827_1829delinsCTT (p.Asp609=) c.2007_2009delinsCTT (p.Asp669=) c.1674_1676delinsCTT (p.Asp558=) | |
7 | g.117592085T>A | CA368978794 | CFTR | c.1918T>A (p.Phe640Ile) c.*1632T>A (n.*1632T>A) c.1735T>A (p.Phe579Ile) c.*218T>A (n.*218T>A) c.*1742T>A (n.*1742T>A) c.1492T>A (p.Phe498Ile) c.1402-10741T>A (n.1402-10741T>A) c.1828T>A (p.Phe610Ile) c.2008T>A (p.Phe670Ile) c.1675T>A (p.Phe559Ile) | |
7 | g.117592085T>C | CA368978796 | CFTR | c.1918T>C (p.Phe640Leu) c.*1632T>C (n.*1632T>C) c.1735T>C (p.Phe579Leu) c.*218T>C (n.*218T>C) c.*1742T>C (n.*1742T>C) c.1492T>C (p.Phe498Leu) c.1402-10741T>C (n.1402-10741T>C) c.1828T>C (p.Phe610Leu) c.2008T>C (p.Phe670Leu) c.1675T>C (p.Phe559Leu) | |
7 | g.117592085T>G | CA368978797 | CFTR | c.1918T>G (p.Phe640Val) c.*1632T>G (n.*1632T>G) c.1735T>G (p.Phe579Val) c.*218T>G (n.*218T>G) c.*1742T>G (n.*1742T>G) c.1492T>G (p.Phe498Val) c.1402-10741T>G (n.1402-10741T>G) c.1828T>G (p.Phe610Val) c.2008T>G (p.Phe670Val) c.1675T>G (p.Phe559Val) | |
7 | g.117592086_117592087del | CA326717 | CFTR | c.1919_1920del (p.Phe640Ter) c.*1633_*1634del (n.*1633_*1634del) c.1736_1737del (p.Phe579Ter) c.*219_*220del (n.*219_*220del) c.*1743_*1744del (n.*1743_*1744del) c.1493_1494del (p.Phe498Ter) c.1402-10740_1402-10739del (n.1402-10740_1402-10739del) c.1829_1830del (p.Phe610Ter) c.2009_2010del (p.Phe670Ter) c.1676_1677del (p.Phe559Ter) | ClinVar dbSNP |
7 | g.117592086T>A | CA368978800 | CFTR | c.1919T>A (p.Phe640Tyr) c.*1633T>A (n.*1633T>A) c.1736T>A (p.Phe579Tyr) c.*219T>A (n.*219T>A) c.*1743T>A (n.*1743T>A) c.1493T>A (p.Phe498Tyr) c.1402-10740T>A (n.1402-10740T>A) c.1829T>A (p.Phe610Tyr) c.2009T>A (p.Phe670Tyr) c.1676T>A (p.Phe559Tyr) | |
7 | g.117592086T>C | CA368978802 | CFTR | c.1919T>C (p.Phe640Ser) c.*1633T>C (n.*1633T>C) c.1736T>C (p.Phe579Ser) c.*219T>C (n.*219T>C) c.*1743T>C (n.*1743T>C) c.1493T>C (p.Phe498Ser) c.1402-10740T>C (n.1402-10740T>C) c.1829T>C (p.Phe610Ser) c.2009T>C (p.Phe670Ser) c.1676T>C (p.Phe559Ser) | gnomAD v4 |
7 | g.117592086T>G | CA368978804 | CFTR | c.1919T>G (p.Phe640Cys) c.*1633T>G (n.*1633T>G) c.1736T>G (p.Phe579Cys) c.*219T>G (n.*219T>G) c.*1743T>G (n.*1743T>G) c.1493T>G (p.Phe498Cys) c.1402-10740T>G (n.1402-10740T>G) c.1829T>G (p.Phe610Cys) c.2009T>G (p.Phe670Cys) c.1676T>G (p.Phe559Cys) | ClinVar |
7 | g.117592086T= | CA1737394180 | CFTR | c.1919T= (p.Phe640=) c.*1633T= (n.*1633T=) c.1736T= (p.Phe579=) c.*219T= (n.*219T=) c.*1743T= (n.*1743T=) c.1493T= (p.Phe498=) c.1402-10740T= (n.1402-10740T=) c.1829T= (p.Phe610=) c.2009T= (p.Phe670=) c.1676T= (p.Phe559=) | |
7 | g.117592087T>A | CA368978806 | CFTR | c.1920T>A (p.Phe640Leu) c.*1634T>A (n.*1634T>A) c.1737T>A (p.Phe579Leu) c.*220T>A (n.*220T>A) c.*1744T>A (n.*1744T>A) c.1494T>A (p.Phe498Leu) c.1402-10739T>A (n.1402-10739T>A) c.1830T>A (p.Phe610Leu) c.2010T>A (p.Phe670Leu) c.1677T>A (p.Phe559Leu) | |
7 | g.117592087T>C | CA4451112 | CFTR | c.1920T>C (p.Phe640=) c.*1634T>C (n.*1634T>C) c.1737T>C (p.Phe579=) c.*220T>C (n.*220T>C) c.*1744T>C (n.*1744T>C) c.1494T>C (p.Phe498=) c.1402-10739T>C (n.1402-10739T>C) c.1830T>C (p.Phe610=) c.2010T>C (p.Phe670=) c.1677T>C (p.Phe559=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592087T>G | CA368978811 | CFTR | c.1920T>G (p.Phe640Leu) c.*1634T>G (n.*1634T>G) c.1737T>G (p.Phe579Leu) c.*220T>G (n.*220T>G) c.*1744T>G (n.*1744T>G) c.1494T>G (p.Phe498Leu) c.1402-10739T>G (n.1402-10739T>G) c.1830T>G (p.Phe610Leu) c.2010T>G (p.Phe670Leu) c.1677T>G (p.Phe559Leu) | ClinVar |
7 | g.117592087T= | CA1737394184 | CFTR | c.1920T= (p.Phe640=) c.*1634T= (n.*1634T=) c.1737T= (p.Phe579=) c.*220T= (n.*220T=) c.*1744T= (n.*1744T=) c.1494T= (p.Phe498=) c.1402-10739T= (n.1402-10739T=) c.1830T= (p.Phe610=) c.2010T= (p.Phe670=) c.1677T= (p.Phe559=) | |
7 | g.117592087_117592088dup | CA915945424 | CFTR | c.1920_1921dup (p.Ser641IlefsTer23) c.*1634_*1635dup (n.*1634_*1635dup) c.1737_1738dup (p.Ser580IlefsTer23) c.*220_*221dup (n.*220_*221dup) c.*1744_*1745dup (n.*1744_*1745dup) c.1494_1495dup (p.Ser499IlefsTer23) c.1402-10739_1402-10738dup (n.1402-10739_1402-10738dup) c.1830_1831dup (p.Ser611IlefsTer23) c.2010_2011dup (p.Ser671IlefsTer23) c.1677_1678dup (p.Ser560IlefsTer23) | ClinVar dbSNP |
7 | g.117592088A= | CA1737394190 | CFTR | c.1921A= (p.Ser641=) c.*1635A= (n.*1635A=) c.1738A= (p.Ser580=) c.*221A= (n.*221A=) c.*1745A= (n.*1745A=) c.1495A= (p.Ser499=) c.1402-10738A= (n.1402-10738A=) c.1831A= (p.Ser611=) c.2011A= (p.Ser671=) c.1678A= (p.Ser560=) | |
7 | g.117592088A>C | CA368978812 | CFTR | c.1921A>C (p.Ser641Arg) c.*1635A>C (n.*1635A>C) c.1738A>C (p.Ser580Arg) c.*221A>C (n.*221A>C) c.*1745A>C (n.*1745A>C) c.1495A>C (p.Ser499Arg) c.1402-10738A>C (n.1402-10738A>C) c.1831A>C (p.Ser611Arg) c.2011A>C (p.Ser671Arg) c.1678A>C (p.Ser560Arg) | gnomAD v4 |
7 | g.117592088A>G | CA4451113 | CFTR | c.1921A>G (p.Ser641Gly) c.*1635A>G (n.*1635A>G) c.1738A>G (p.Ser580Gly) c.*221A>G (n.*221A>G) c.*1745A>G (n.*1745A>G) c.1495A>G (p.Ser499Gly) c.1402-10738A>G (n.1402-10738A>G) c.1831A>G (p.Ser611Gly) c.2011A>G (p.Ser671Gly) c.1678A>G (p.Ser560Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592088A>T | CA368978816 | CFTR | c.1921A>T (p.Ser641Cys) c.*1635A>T (n.*1635A>T) c.1738A>T (p.Ser580Cys) c.*221A>T (n.*221A>T) c.*1745A>T (n.*1745A>T) c.1495A>T (p.Ser499Cys) c.1402-10738A>T (n.1402-10738A>T) c.1831A>T (p.Ser611Cys) c.2011A>T (p.Ser671Cys) c.1678A>T (p.Ser560Cys) | |
7 | g.117592088_117592089insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT | CA2509043200 | CFTR | c.1921_1922insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (p.Ser641LysfsTer3) c.*1635_*1636insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (n.*1635_*1636insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT) c.1738_1739insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (p.Ser580LysfsTer3) c.*221_*222insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (n.*221_*222insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT) c.*1745_*1746insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (n.*1745_*1746insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT) c.1495_1496insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (p.Ser499LysfsTer3) c.1402-10738_1402-10737insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (n.1402-10738_1402-10737insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT) c.1831_1832insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (p.Ser611LysfsTer3) c.2011_2012insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (p.Ser671LysfsTer3) c.1678_1679insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (p.Ser560LysfsTer3) | |
7 | g.117592089G>A | CA368978824 | CFTR | c.1922G>A (p.Ser641Asn) c.*1636G>A (n.*1636G>A) c.1739G>A (p.Ser580Asn) c.*222G>A (n.*222G>A) c.*1746G>A (n.*1746G>A) c.1496G>A (p.Ser499Asn) c.1402-10737G>A (n.1402-10737G>A) c.1832G>A (p.Ser611Asn) c.2012G>A (p.Ser671Asn) c.1679G>A (p.Ser560Asn) | |
7 | g.117592089G>C | CA368978819 | CFTR | c.1922G>C (p.Ser641Thr) c.*1636G>C (n.*1636G>C) c.1739G>C (p.Ser580Thr) c.*222G>C (n.*222G>C) c.*1746G>C (n.*1746G>C) c.1496G>C (p.Ser499Thr) c.1402-10737G>C (n.1402-10737G>C) c.1832G>C (p.Ser611Thr) c.2012G>C (p.Ser671Thr) c.1679G>C (p.Ser560Thr) | |
7 | g.117592089G>T | CA368978821 | CFTR | c.1922G>T (p.Ser641Ile) c.*1636G>T (n.*1636G>T) c.1739G>T (p.Ser580Ile) c.*222G>T (n.*222G>T) c.*1746G>T (n.*1746G>T) c.1496G>T (p.Ser499Ile) c.1402-10737G>T (n.1402-10737G>T) c.1832G>T (p.Ser611Ile) c.2012G>T (p.Ser671Ile) c.1679G>T (p.Ser560Ile) | |
7 | g.117592089_117592092delinsGCTC | CA1737394196 | CFTR | c.1922_1925delinsGCTC (p.Ser641=) c.*1636_*1639delinsGCTC (n.*1636_*1639delinsGCTC) c.1739_1742delinsGCTC (p.Ser580=) c.*222_*225delinsGCTC (n.*222_*225delinsGCTC) c.*1746_*1749delinsGCTC (n.*1746_*1749delinsGCTC) c.1496_1499delinsGCTC (p.Ser499=) c.1402-10737_1402-10734delinsGCTC (n.1402-10737_1402-10734delinsGCTC) c.1832_1835delinsGCTC (p.Ser611=) c.2012_2015delinsGCTC (p.Ser671=) c.1679_1682delinsGCTC (p.Ser560=) | |
7 | g.117592089_117592097delinsGCTCAAAAC | CA1737394195 | CFTR | c.1922_1930delinsGCTCAAAAC (p.Ser641=) c.*1636_*1644delinsGCTCAAAAC (n.*1636_*1644delinsGCTCAAAAC) c.1739_1747delinsGCTCAAAAC (p.Ser580=) c.*222_*230delinsGCTCAAAAC (n.*222_*230delinsGCTCAAAAC) c.*1746_*1754delinsGCTCAAAAC (n.*1746_*1754delinsGCTCAAAAC) c.1496_1504delinsGCTCAAAAC (p.Ser499=) c.1402-10737_1402-10729delinsGCTCAAAAC (n.1402-10737_1402-10729delinsGCTCAAAAC) c.1832_1840delinsGCTCAAAAC (p.Ser611=) c.2012_2020delinsGCTCAAAAC (p.Ser671=) c.1679_1687delinsGCTCAAAAC (p.Ser560=) | |
7 | g.117592089_117592098delinsGCTCAAAACT | CA1737394194 | CFTR | c.1922_1931delinsGCTCAAAACT (p.Ser641=) c.*1636_*1645delinsGCTCAAAACT (n.*1636_*1645delinsGCTCAAAACT) c.1739_1748delinsGCTCAAAACT (p.Ser580=) c.*222_*231delinsGCTCAAAACT (n.*222_*231delinsGCTCAAAACT) c.*1746_*1755delinsGCTCAAAACT (n.*1746_*1755delinsGCTCAAAACT) c.1496_1505delinsGCTCAAAACT (p.Ser499=) c.1402-10737_1402-10728delinsGCTCAAAACT (n.1402-10737_1402-10728delinsGCTCAAAACT) c.1832_1841delinsGCTCAAAACT (p.Ser611=) c.2012_2021delinsGCTCAAAACT (p.Ser671=) c.1679_1688delinsGCTCAAAACT (p.Ser560=) | |
7 | g.117592090C>A | CA368978828 | CFTR | c.1923C>A (p.Ser641Arg) c.*1637C>A (n.*1637C>A) c.1740C>A (p.Ser580Arg) c.*223C>A (n.*223C>A) c.*1747C>A (n.*1747C>A) c.1497C>A (p.Ser499Arg) c.1402-10736C>A (n.1402-10736C>A) c.1833C>A (p.Ser611Arg) c.2013C>A (p.Ser671Arg) c.1680C>A (p.Ser560Arg) | dbSNP |
7 | g.117592090C>G | CA368978831 | CFTR | c.1923C>G (p.Ser641Arg) c.*1637C>G (n.*1637C>G) c.1740C>G (p.Ser580Arg) c.*223C>G (n.*223C>G) c.*1747C>G (n.*1747C>G) c.1497C>G (p.Ser499Arg) c.1402-10736C>G (n.1402-10736C>G) c.1833C>G (p.Ser611Arg) c.2013C>G (p.Ser671Arg) c.1680C>G (p.Ser560Arg) | |
7 | g.117592090C>T | CA457448890 | CFTR | c.1923C>T (p.Ser641=) c.*1637C>T (n.*1637C>T) c.1740C>T (p.Ser580=) c.*223C>T (n.*223C>T) c.*1747C>T (n.*1747C>T) c.1497C>T (p.Ser499=) c.1402-10736C>T (n.1402-10736C>T) c.1833C>T (p.Ser611=) c.2013C>T (p.Ser671=) c.1680C>T (p.Ser560=) | |
7 | g.117592090_117592092del | CA577680760 | CFTR | c.1923_1925del (p.Ser641_Ser642delinsArg) c.*1637_*1639del (n.*1637_*1639del) c.1740_1742del (p.Ser580_Ser581delinsArg) c.*223_*225del (n.*223_*225del) c.*1747_*1749del (n.*1747_*1749del) c.1497_1499del (p.Ser499_Ser500delinsArg) c.1402-10736_1402-10734del (n.1402-10736_1402-10734del) c.1833_1835del (p.Ser611_Ser612delinsArg) c.2013_2015del (p.Ser671_Ser672delinsArg) c.1680_1682del (p.Ser560_Ser561delinsArg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592090_117592097del | CA832105371 | CFTR | c.1923_1930del (p.Ser642HisfsTer4) c.*1637_*1644del (n.*1637_*1644del) c.1740_1747del (p.Ser581HisfsTer4) c.*223_*230del (n.*223_*230del) c.*1747_*1754del (n.*1747_*1754del) c.1497_1504del (p.Ser500HisfsTer4) c.1402-10736_1402-10729del (n.1402-10736_1402-10729del) c.1833_1840del (p.Ser612HisfsTer4) c.2013_2020del (p.Ser672HisfsTer4) c.1680_1687del (p.Ser561HisfsTer4) | dbSNP |
7 | g.117592090_117592098delinsA | CA326718 | CFTR | c.1923_1931delinsA (p.Ser641ArgfsTer5) c.*1637_*1645delinsA (n.*1637_*1645delinsA) c.1740_1748delinsA (p.Ser580ArgfsTer5) c.*223_*231delinsA (n.*223_*231delinsA) c.*1747_*1755delinsA (n.*1747_*1755delinsA) c.1497_1505delinsA (p.Ser499ArgfsTer5) c.1402-10736_1402-10728delinsA (n.1402-10736_1402-10728delinsA) c.1833_1841delinsA (p.Ser611ArgfsTer5) c.2013_2021delinsA (p.Ser671ArgfsTer5) c.1680_1688delinsA (p.Ser560ArgfsTer5) | ClinVar dbSNP |
7 | g.117592091_117592099del | CA2695208505 | CFTR | c.1924_1932del (p.Ser642_Leu644del) c.*1638_*1646del (n.*1638_*1646del) c.1741_1749del (p.Ser581_Leu583del) c.*224_*232del (n.*224_*232del) c.*1748_*1756del (n.*1748_*1756del) c.1498_1506del (p.Ser500_Leu502del) c.1402-10735_1402-10727del (n.1402-10735_1402-10727del) c.1834_1842del (p.Ser612_Leu614del) c.2014_2022del (p.Ser672_Leu674del) c.1681_1689del (p.Ser561_Leu563del) | |
7 | g.117592091T>A | CA368978833 | CFTR | c.1924T>A (p.Ser642Thr) c.*1638T>A (n.*1638T>A) c.1741T>A (p.Ser581Thr) c.*224T>A (n.*224T>A) c.*1748T>A (n.*1748T>A) c.1498T>A (p.Ser500Thr) c.1402-10735T>A (n.1402-10735T>A) c.1834T>A (p.Ser612Thr) c.2014T>A (p.Ser672Thr) c.1681T>A (p.Ser561Thr) | |
7 | g.117592091T>C | CA164947599 | CFTR | c.1924T>C (p.Ser642Pro) c.*1638T>C (n.*1638T>C) c.1741T>C (p.Ser581Pro) c.*224T>C (n.*224T>C) c.*1748T>C (n.*1748T>C) c.1498T>C (p.Ser500Pro) c.1402-10735T>C (n.1402-10735T>C) c.1834T>C (p.Ser612Pro) c.2014T>C (p.Ser672Pro) c.1681T>C (p.Ser561Pro) | dbSNP gnomAD v4 |
7 | g.117592091T>G | CA368978835 | CFTR | c.1924T>G (p.Ser642Ala) c.*1638T>G (n.*1638T>G) c.1741T>G (p.Ser581Ala) c.*224T>G (n.*224T>G) c.*1748T>G (n.*1748T>G) c.1498T>G (p.Ser500Ala) c.1402-10735T>G (n.1402-10735T>G) c.1834T>G (p.Ser612Ala) c.2014T>G (p.Ser672Ala) c.1681T>G (p.Ser561Ala) | |
7 | g.117592091T= | CA1737394206 | CFTR | c.1924T= (p.Ser642=) c.*1638T= (n.*1638T=) c.1741T= (p.Ser581=) c.*224T= (n.*224T=) c.*1748T= (n.*1748T=) c.1498T= (p.Ser500=) c.1402-10735T= (n.1402-10735T=) c.1834T= (p.Ser612=) c.2014T= (p.Ser672=) c.1681T= (p.Ser561=) | |
7 | g.117592091_117592098del | CA2582341949 | CFTR | c.1924_1931del (p.Ser642HisfsTer4) c.*1638_*1645del (n.*1638_*1645del) c.1741_1748del (p.Ser581HisfsTer4) c.*224_*231del (n.*224_*231del) c.*1748_*1755del (n.*1748_*1755del) c.1498_1505del (p.Ser500HisfsTer4) c.1402-10735_1402-10728del (n.1402-10735_1402-10728del) c.1834_1841del (p.Ser612HisfsTer4) c.2014_2021del (p.Ser672HisfsTer4) c.1681_1688del (p.Ser561HisfsTer4) | ClinVar |
7 | g.117592092C>A | CA368978837 | CFTR | c.1925C>A (p.Ser642Ter) c.*1639C>A (n.*1639C>A) c.1742C>A (p.Ser581Ter) c.*225C>A (n.*225C>A) c.*1749C>A (n.*1749C>A) c.1499C>A (p.Ser500Ter) c.1402-10734C>A (n.1402-10734C>A) c.1835C>A (p.Ser612Ter) c.2015C>A (p.Ser672Ter) c.1682C>A (p.Ser561Ter) | |
7 | g.117592092C>G | CA368978839 | CFTR | c.1925C>G (p.Ser642Ter) c.*1639C>G (n.*1639C>G) c.1742C>G (p.Ser581Ter) c.*225C>G (n.*225C>G) c.*1749C>G (n.*1749C>G) c.1499C>G (p.Ser500Ter) c.1402-10734C>G (n.1402-10734C>G) c.1835C>G (p.Ser612Ter) c.2015C>G (p.Ser672Ter) c.1682C>G (p.Ser561Ter) | |
7 | g.117592092C>T | CA368978841 | CFTR | c.1925C>T (p.Ser642Leu) c.*1639C>T (n.*1639C>T) c.1742C>T (p.Ser581Leu) c.*225C>T (n.*225C>T) c.*1749C>T (n.*1749C>T) c.1499C>T (p.Ser500Leu) c.1402-10734C>T (n.1402-10734C>T) c.1835C>T (p.Ser612Leu) c.2015C>T (p.Ser672Leu) c.1682C>T (p.Ser561Leu) | |
7 | g.117592093A= | CA1737394208 | CFTR | c.1926A= (p.Ser642=) c.*1640A= (n.*1640A=) c.1743A= (p.Ser581=) c.*226A= (n.*226A=) c.*1750A= (n.*1750A=) c.1500A= (p.Ser500=) c.1402-10733A= (n.1402-10733A=) c.1836A= (p.Ser612=) c.2016A= (p.Ser672=) c.1683A= (p.Ser561=) | |
7 | g.117592093A>C | CA457448891 | CFTR | c.1926A>C (p.Ser642=) c.*1640A>C (n.*1640A>C) c.1743A>C (p.Ser581=) c.*226A>C (n.*226A>C) c.*1750A>C (n.*1750A>C) c.1500A>C (p.Ser500=) c.1402-10733A>C (n.1402-10733A>C) c.1836A>C (p.Ser612=) c.2016A>C (p.Ser672=) c.1683A>C (p.Ser561=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592093A>G | CA457448892 | CFTR | c.1926A>G (p.Ser642=) c.*1640A>G (n.*1640A>G) c.1743A>G (p.Ser581=) c.*226A>G (n.*226A>G) c.*1750A>G (n.*1750A>G) c.1500A>G (p.Ser500=) c.1402-10733A>G (n.1402-10733A>G) c.1836A>G (p.Ser612=) c.2016A>G (p.Ser672=) c.1683A>G (p.Ser561=) | |
7 | g.117592093A>T | CA457448893 | CFTR | c.1926A>T (p.Ser642=) c.*1640A>T (n.*1640A>T) c.1743A>T (p.Ser581=) c.*226A>T (n.*226A>T) c.*1750A>T (n.*1750A>T) c.1500A>T (p.Ser500=) c.1402-10733A>T (n.1402-10733A>T) c.1836A>T (p.Ser612=) c.2016A>T (p.Ser672=) c.1683A>T (p.Ser561=) | |
7 | g.117592093_117592098delinsAAAACT | CA1737394210 | CFTR | c.1926_1931delinsAAAACT (p.Ser642=) c.*1640_*1645delinsAAAACT (n.*1640_*1645delinsAAAACT) c.1743_1748delinsAAAACT (p.Ser581=) c.*226_*231delinsAAAACT (n.*226_*231delinsAAAACT) c.*1750_*1755delinsAAAACT (n.*1750_*1755delinsAAAACT) c.1500_1505delinsAAAACT (p.Ser500=) c.1402-10733_1402-10728delinsAAAACT (n.1402-10733_1402-10728delinsAAAACT) c.1836_1841delinsAAAACT (p.Ser612=) c.2016_2021delinsAAAACT (p.Ser672=) c.1683_1688delinsAAAACT (p.Ser561=) | |
7 | g.117592094A>C | CA368978844 | CFTR | c.1927A>C (p.Lys643Gln) c.*1641A>C (n.*1641A>C) c.1744A>C (p.Lys582Gln) c.*227A>C (n.*227A>C) c.*1751A>C (n.*1751A>C) c.1501A>C (p.Lys501Gln) c.1402-10732A>C (n.1402-10732A>C) c.1837A>C (p.Lys613Gln) c.2017A>C (p.Lys673Gln) c.1684A>C (p.Lys562Gln) | ClinVar |
7 | g.117592094A>G | CA368978846 | CFTR | c.1927A>G (p.Lys643Glu) c.*1641A>G (n.*1641A>G) c.1744A>G (p.Lys582Glu) c.*227A>G (n.*227A>G) c.*1751A>G (n.*1751A>G) c.1501A>G (p.Lys501Glu) c.1402-10732A>G (n.1402-10732A>G) c.1837A>G (p.Lys613Glu) c.2017A>G (p.Lys673Glu) c.1684A>G (p.Lys562Glu) | ClinVar gnomAD v4 |
7 | g.117592094A>T | CA368978848 | CFTR | c.1927A>T (p.Lys643Ter) c.*1641A>T (n.*1641A>T) c.1744A>T (p.Lys582Ter) c.*227A>T (n.*227A>T) c.*1751A>T (n.*1751A>T) c.1501A>T (p.Lys501Ter) c.1402-10732A>T (n.1402-10732A>T) c.1837A>T (p.Lys613Ter) c.2017A>T (p.Lys673Ter) c.1684A>T (p.Lys562Ter) | |
7 | g.117592094_117592098del | CA577680761 | CFTR | c.1927_1931del (p.Lys643HisfsTer4) c.*1641_*1645del (n.*1641_*1645del) c.1744_1748del (p.Lys582HisfsTer4) c.*227_*231del (n.*227_*231del) c.*1751_*1755del (n.*1751_*1755del) c.1501_1505del (p.Lys501HisfsTer4) c.1402-10732_1402-10728del (n.1402-10732_1402-10728del) c.1837_1841del (p.Lys613HisfsTer4) c.2017_2021del (p.Lys673HisfsTer4) c.1684_1688del (p.Lys562HisfsTer4) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592095A= | CA1737394215 | CFTR | c.1928A= (p.Lys643=) c.*1642A= (n.*1642A=) c.1745A= (p.Lys582=) c.*228A= (n.*228A=) c.*1752A= (n.*1752A=) c.1502A= (p.Lys501=) c.1402-10731A= (n.1402-10731A=) c.1838A= (p.Lys613=) c.2018A= (p.Lys673=) c.1685A= (p.Lys562=) | |
7 | g.117592095A>C | CA368978851 | CFTR | c.1928A>C (p.Lys643Thr) c.*1642A>C (n.*1642A>C) c.1745A>C (p.Lys582Thr) c.*228A>C (n.*228A>C) c.*1752A>C (n.*1752A>C) c.1502A>C (p.Lys501Thr) c.1402-10731A>C (n.1402-10731A>C) c.1838A>C (p.Lys613Thr) c.2018A>C (p.Lys673Thr) c.1685A>C (p.Lys562Thr) | |
7 | g.117592095A>G | CA368978853 | CFTR | c.1928A>G (p.Lys643Arg) c.*1642A>G (n.*1642A>G) c.1745A>G (p.Lys582Arg) c.*228A>G (n.*228A>G) c.*1752A>G (n.*1752A>G) c.1502A>G (p.Lys501Arg) c.1402-10731A>G (n.1402-10731A>G) c.1838A>G (p.Lys613Arg) c.2018A>G (p.Lys673Arg) c.1685A>G (p.Lys562Arg) | ClinVar dbSNP |
7 | g.117592095A>T | CA368978855 | CFTR | c.1928A>T (p.Lys643Ile) c.*1642A>T (n.*1642A>T) c.1745A>T (p.Lys582Ile) c.*228A>T (n.*228A>T) c.*1752A>T (n.*1752A>T) c.1502A>T (p.Lys501Ile) c.1402-10731A>T (n.1402-10731A>T) c.1838A>T (p.Lys613Ile) c.2018A>T (p.Lys673Ile) c.1685A>T (p.Lys562Ile) | |
7 | g.117592096A= | CA1737394218 | CFTR | c.1929A= (p.Lys643=) c.*1643A= (n.*1643A=) c.1746A= (p.Lys582=) c.*229A= (n.*229A=) c.*1753A= (n.*1753A=) c.1503A= (p.Lys501=) c.1402-10730A= (n.1402-10730A=) c.1839A= (p.Lys613=) c.2019A= (p.Lys673=) c.1686A= (p.Lys562=) | |
7 | g.117592096A>C | CA368978857 | CFTR | c.1929A>C (p.Lys643Asn) c.*1643A>C (n.*1643A>C) c.1746A>C (p.Lys582Asn) c.*229A>C (n.*229A>C) c.*1753A>C (n.*1753A>C) c.1503A>C (p.Lys501Asn) c.1402-10730A>C (n.1402-10730A>C) c.1839A>C (p.Lys613Asn) c.2019A>C (p.Lys673Asn) c.1686A>C (p.Lys562Asn) | |
7 | g.117592096A>G | CA457448894 | CFTR | c.1929A>G (p.Lys643=) c.*1643A>G (n.*1643A>G) c.1746A>G (p.Lys582=) c.*229A>G (n.*229A>G) c.*1753A>G (n.*1753A>G) c.1503A>G (p.Lys501=) c.1402-10730A>G (n.1402-10730A>G) c.1839A>G (p.Lys613=) c.2019A>G (p.Lys673=) c.1686A>G (p.Lys562=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592096A>T | CA368978858 | CFTR | c.1929A>T (p.Lys643Asn) c.*1643A>T (n.*1643A>T) c.1746A>T (p.Lys582Asn) c.*229A>T (n.*229A>T) c.*1753A>T (n.*1753A>T) c.1503A>T (p.Lys501Asn) c.1402-10730A>T (n.1402-10730A>T) c.1839A>T (p.Lys613Asn) c.2019A>T (p.Lys673Asn) c.1686A>T (p.Lys562Asn) | dbSNP |
7 | g.117592097C>A | CA368978861 | CFTR | c.1930C>A (p.Leu644Ile) c.*1644C>A (n.*1644C>A) c.1747C>A (p.Leu583Ile) c.*230C>A (n.*230C>A) c.*1754C>A (n.*1754C>A) c.1504C>A (p.Leu502Ile) c.1402-10729C>A (n.1402-10729C>A) c.1840C>A (p.Leu614Ile) c.2020C>A (p.Leu674Ile) c.1687C>A (p.Leu563Ile) | |
7 | g.117592097C>G | CA368978863 | CFTR | c.1930C>G (p.Leu644Val) c.*1644C>G (n.*1644C>G) c.1747C>G (p.Leu583Val) c.*230C>G (n.*230C>G) c.*1754C>G (n.*1754C>G) c.1504C>G (p.Leu502Val) c.1402-10729C>G (n.1402-10729C>G) c.1840C>G (p.Leu614Val) c.2020C>G (p.Leu674Val) c.1687C>G (p.Leu563Val) | ClinVar |
7 | g.117592097C>T | CA368978865 | CFTR | c.1930C>T (p.Leu644Phe) c.*1644C>T (n.*1644C>T) c.1747C>T (p.Leu583Phe) c.*230C>T (n.*230C>T) c.*1754C>T (n.*1754C>T) c.1504C>T (p.Leu502Phe) c.1402-10729C>T (n.1402-10729C>T) c.1840C>T (p.Leu614Phe) c.2020C>T (p.Leu674Phe) c.1687C>T (p.Leu563Phe) | |
7 | g.117592098T>A | CA164947601 | CFTR | c.1931T>A (p.Leu644His) c.*1645T>A (n.*1645T>A) c.1748T>A (p.Leu583His) c.*231T>A (n.*231T>A) c.*1755T>A (n.*1755T>A) c.1505T>A (p.Leu502His) c.1402-10728T>A (n.1402-10728T>A) c.1841T>A (p.Leu614His) c.2021T>A (p.Leu674His) c.1688T>A (p.Leu563His) | dbSNP |
7 | g.117592098T>C | CA368978867 | CFTR | c.1931T>C (p.Leu644Pro) c.*1645T>C (n.*1645T>C) c.1748T>C (p.Leu583Pro) c.*231T>C (n.*231T>C) c.*1755T>C (n.*1755T>C) c.1505T>C (p.Leu502Pro) c.1402-10728T>C (n.1402-10728T>C) c.1841T>C (p.Leu614Pro) c.2021T>C (p.Leu674Pro) c.1688T>C (p.Leu563Pro) | COSMIC |
7 | g.117592098T>G | CA368978868 | CFTR | c.1931T>G (p.Leu644Arg) c.*1645T>G (n.*1645T>G) c.1748T>G (p.Leu583Arg) c.*231T>G (n.*231T>G) c.*1755T>G (n.*1755T>G) c.1505T>G (p.Leu502Arg) c.1402-10728T>G (n.1402-10728T>G) c.1841T>G (p.Leu614Arg) c.2021T>G (p.Leu674Arg) c.1688T>G (p.Leu563Arg) | |
7 | g.117592098T= | CA1737394222 | CFTR | c.1931T= (p.Leu644=) c.*1645T= (n.*1645T=) c.1748T= (p.Leu583=) c.*231T= (n.*231T=) c.*1755T= (n.*1755T=) c.1505T= (p.Leu502=) c.1402-10728T= (n.1402-10728T=) c.1841T= (p.Leu614=) c.2021T= (p.Leu674=) c.1688T= (p.Leu563=) | |
7 | g.117592099C>A | CA457448895 | CFTR | c.1932C>A (p.Leu644=) c.*1646C>A (n.*1646C>A) c.1749C>A (p.Leu583=) c.*232C>A (n.*232C>A) c.*1756C>A (n.*1756C>A) c.1506C>A (p.Leu502=) c.1402-10727C>A (n.1402-10727C>A) c.1842C>A (p.Leu614=) c.2022C>A (p.Leu674=) c.1689C>A (p.Leu563=) | |
7 | g.117592099C= | CA1737394230 | CFTR | c.1932C= (p.Leu644=) c.*1646C= (n.*1646C=) c.1749C= (p.Leu583=) c.*232C= (n.*232C=) c.*1756C= (n.*1756C=) c.1506C= (p.Leu502=) c.1402-10727C= (n.1402-10727C=) c.1842C= (p.Leu614=) c.2022C= (p.Leu674=) c.1689C= (p.Leu563=) | |
7 | g.117592099C>G | CA4451114 | CFTR | c.1932C>G (p.Leu644=) c.*1646C>G (n.*1646C>G) c.1749C>G (p.Leu583=) c.*232C>G (n.*232C>G) c.*1756C>G (n.*1756C>G) c.1506C>G (p.Leu502=) c.1402-10727C>G (n.1402-10727C>G) c.1842C>G (p.Leu614=) c.2022C>G (p.Leu674=) c.1689C>G (p.Leu563=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592099C>T | CA457448896 | CFTR | c.1932C>T (p.Leu644=) c.*1646C>T (n.*1646C>T) c.1749C>T (p.Leu583=) c.*232C>T (n.*232C>T) c.*1756C>T (n.*1756C>T) c.1506C>T (p.Leu502=) c.1402-10727C>T (n.1402-10727C>T) c.1842C>T (p.Leu614=) c.2022C>T (p.Leu674=) c.1689C>T (p.Leu563=) | ClinVar dbSNP COSMIC |
7 | g.117592100A= | CA1737394240 | CFTR | c.1933A= (p.Met645=) c.*1647A= (n.*1647A=) c.1750A= (p.Met584=) c.*233A= (n.*233A=) c.*1757A= (n.*1757A=) c.1507A= (p.Met503=) c.1402-10726A= (n.1402-10726A=) c.1843A= (p.Met615=) c.2023A= (p.Met675=) c.1690A= (p.Met564=) | |
7 | g.117592100A>C | CA368978869 | CFTR | c.1933A>C (p.Met645Leu) c.*1647A>C (n.*1647A>C) c.1750A>C (p.Met584Leu) c.*233A>C (n.*233A>C) c.*1757A>C (n.*1757A>C) c.1507A>C (p.Met503Leu) c.1402-10726A>C (n.1402-10726A>C) c.1843A>C (p.Met615Leu) c.2023A>C (p.Met675Leu) c.1690A>C (p.Met564Leu) | gnomAD v4 |
7 | g.117592100A>G | CA368978870 | CFTR | c.1933A>G (p.Met645Val) c.*1647A>G (n.*1647A>G) c.1750A>G (p.Met584Val) c.*233A>G (n.*233A>G) c.*1757A>G (n.*1757A>G) c.1507A>G (p.Met503Val) c.1402-10726A>G (n.1402-10726A>G) c.1843A>G (p.Met615Val) c.2023A>G (p.Met675Val) c.1690A>G (p.Met564Val) | dbSNP |
7 | g.117592100A>T | CA368978874 | CFTR | c.1933A>T (p.Met645Leu) c.*1647A>T (n.*1647A>T) c.1750A>T (p.Met584Leu) c.*233A>T (n.*233A>T) c.*1757A>T (n.*1757A>T) c.1507A>T (p.Met503Leu) c.1402-10726A>T (n.1402-10726A>T) c.1843A>T (p.Met615Leu) c.2023A>T (p.Met675Leu) c.1690A>T (p.Met564Leu) | |
7 | g.117592101T>A | CA4451116 | CFTR | c.1934T>A (p.Met645Lys) c.*1648T>A (n.*1648T>A) c.1751T>A (p.Met584Lys) c.*234T>A (n.*234T>A) c.*1758T>A (n.*1758T>A) c.1508T>A (p.Met503Lys) c.1402-10725T>A (n.1402-10725T>A) c.1844T>A (p.Met615Lys) c.2024T>A (p.Met675Lys) c.1691T>A (p.Met564Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592101T>C | CA4451115 | CFTR | c.1934T>C (p.Met645Thr) c.*1648T>C (n.*1648T>C) c.1751T>C (p.Met584Thr) c.*234T>C (n.*234T>C) c.*1758T>C (n.*1758T>C) c.1508T>C (p.Met503Thr) c.1402-10725T>C (n.1402-10725T>C) c.1844T>C (p.Met615Thr) c.2024T>C (p.Met675Thr) c.1691T>C (p.Met564Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592101T>G | CA368978877 | CFTR | c.1934T>G (p.Met645Arg) c.*1648T>G (n.*1648T>G) c.1751T>G (p.Met584Arg) c.*234T>G (n.*234T>G) c.*1758T>G (n.*1758T>G) c.1508T>G (p.Met503Arg) c.1402-10725T>G (n.1402-10725T>G) c.1844T>G (p.Met615Arg) c.2024T>G (p.Met675Arg) c.1691T>G (p.Met564Arg) | |
7 | g.117592101T= | CA1737394250 | CFTR | c.1934T= (p.Met645=) c.*1648T= (n.*1648T=) c.1751T= (p.Met584=) c.*234T= (n.*234T=) c.*1758T= (n.*1758T=) c.1508T= (p.Met503=) c.1402-10725T= (n.1402-10725T=) c.1844T= (p.Met615=) c.2024T= (p.Met675=) c.1691T= (p.Met564=) | |
7 | g.117592102G>A | CA368978881 | CFTR | c.1935G>A (p.Met645Ile) c.*1649G>A (n.*1649G>A) c.1752G>A (p.Met584Ile) c.*235G>A (n.*235G>A) c.*1759G>A (n.*1759G>A) c.1509G>A (p.Met503Ile) c.1402-10724G>A (n.1402-10724G>A) c.1845G>A (p.Met615Ile) c.2025G>A (p.Met675Ile) c.1692G>A (p.Met564Ile) | ClinVar |
7 | g.117592102G>C | CA368978886 | CFTR | c.1935G>C (p.Met645Ile) c.*1649G>C (n.*1649G>C) c.1752G>C (p.Met584Ile) c.*235G>C (n.*235G>C) c.*1759G>C (n.*1759G>C) c.1509G>C (p.Met503Ile) c.1402-10724G>C (n.1402-10724G>C) c.1845G>C (p.Met615Ile) c.2025G>C (p.Met675Ile) c.1692G>C (p.Met564Ile) | |
7 | g.117592102G>T | CA368978883 | CFTR | c.1935G>T (p.Met645Ile) c.*1649G>T (n.*1649G>T) c.1752G>T (p.Met584Ile) c.*235G>T (n.*235G>T) c.*1759G>T (n.*1759G>T) c.1509G>T (p.Met503Ile) c.1402-10724G>T (n.1402-10724G>T) c.1845G>T (p.Met615Ile) c.2025G>T (p.Met675Ile) c.1692G>T (p.Met564Ile) | |
7 | g.117592104del | CA2580076508 | CFTR | c.1937del (p.Gly646AspfsTer17) c.*1651del (n.*1651del) c.1754del (p.Gly585AspfsTer17) c.*237del (n.*237del) c.*1761del (n.*1761del) c.1511del (p.Gly504AspfsTer17) c.1402-10722del (n.1402-10722del) c.1847del (p.Gly616AspfsTer17) c.2027del (p.Gly676AspfsTer17) c.1694del (p.Gly565AspfsTer17) | ClinVar |
7 | g.117592103G>A | CA368978889 | CFTR | c.1936G>A (p.Gly646Arg) c.*1650G>A (n.*1650G>A) c.1753G>A (p.Gly585Arg) c.*236G>A (n.*236G>A) c.*1760G>A (n.*1760G>A) c.1510G>A (p.Gly504Arg) c.1402-10723G>A (n.1402-10723G>A) c.1846G>A (p.Gly616Arg) c.2026G>A (p.Gly676Arg) c.1693G>A (p.Gly565Arg) | ClinVar dbSNP gnomAD v4 |
7 | g.117592103G>C | CA368978890 | CFTR | c.1936G>C (p.Gly646Arg) c.*1650G>C (n.*1650G>C) c.1753G>C (p.Gly585Arg) c.*236G>C (n.*236G>C) c.*1760G>C (n.*1760G>C) c.1510G>C (p.Gly504Arg) c.1402-10723G>C (n.1402-10723G>C) c.1846G>C (p.Gly616Arg) c.2026G>C (p.Gly676Arg) c.1693G>C (p.Gly565Arg) | |
7 | g.117592103G= | CA1737394263 | CFTR | c.1936G= (p.Gly646=) c.*1650G= (n.*1650G=) c.1753G= (p.Gly585=) c.*236G= (n.*236G=) c.*1760G= (n.*1760G=) c.1510G= (p.Gly504=) c.1402-10723G= (n.1402-10723G=) c.1846G= (p.Gly616=) c.2026G= (p.Gly676=) c.1693G= (p.Gly565=) | |
7 | g.117592103G>T | CA368978891 | CFTR | c.1936G>T (p.Gly646Ter) c.*1650G>T (n.*1650G>T) c.1753G>T (p.Gly585Ter) c.*236G>T (n.*236G>T) c.*1760G>T (n.*1760G>T) c.1510G>T (p.Gly504Ter) c.1402-10723G>T (n.1402-10723G>T) c.1846G>T (p.Gly616Ter) c.2026G>T (p.Gly676Ter) c.1693G>T (p.Gly565Ter) | ClinVar dbSNP |
7 | g.117592104G>A | CA368978894 | CFTR | c.1937G>A (p.Gly646Glu) c.*1651G>A (n.*1651G>A) c.1754G>A (p.Gly585Glu) c.*237G>A (n.*237G>A) c.*1761G>A (n.*1761G>A) c.1511G>A (p.Gly504Glu) c.1402-10722G>A (n.1402-10722G>A) c.1847G>A (p.Gly616Glu) c.2027G>A (p.Gly676Glu) c.1694G>A (p.Gly565Glu) | |
7 | g.117592104G>C | CA368978896 | CFTR | c.1937G>C (p.Gly646Ala) c.*1651G>C (n.*1651G>C) c.1754G>C (p.Gly585Ala) c.*237G>C (n.*237G>C) c.*1761G>C (n.*1761G>C) c.1511G>C (p.Gly504Ala) c.1402-10722G>C (n.1402-10722G>C) c.1847G>C (p.Gly616Ala) c.2027G>C (p.Gly676Ala) c.1694G>C (p.Gly565Ala) | |
7 | g.117592104G>T | CA368978898 | CFTR | c.1937G>T (p.Gly646Val) c.*1651G>T (n.*1651G>T) c.1754G>T (p.Gly585Val) c.*237G>T (n.*237G>T) c.*1761G>T (n.*1761G>T) c.1511G>T (p.Gly504Val) c.1402-10722G>T (n.1402-10722G>T) c.1847G>T (p.Gly616Val) c.2027G>T (p.Gly676Val) c.1694G>T (p.Gly565Val) | |
7 | g.117592105A= | CA1737394268 | CFTR | c.1938A= (p.Gly646=) c.*1652A= (n.*1652A=) c.1755A= (p.Gly585=) c.*238A= (n.*238A=) c.*1762A= (n.*1762A=) c.1512A= (p.Gly504=) c.1402-10721A= (n.1402-10721A=) c.1848A= (p.Gly616=) c.2028A= (p.Gly676=) c.1695A= (p.Gly565=) | |
7 | g.117592105A>C | CA457448897 | CFTR | c.1938A>C (p.Gly646=) c.*1652A>C (n.*1652A>C) c.1755A>C (p.Gly585=) c.*238A>C (n.*238A>C) c.*1762A>C (n.*1762A>C) c.1512A>C (p.Gly504=) c.1402-10721A>C (n.1402-10721A>C) c.1848A>C (p.Gly616=) c.2028A>C (p.Gly676=) c.1695A>C (p.Gly565=) | |
7 | g.117592105A>G | CA457448898 | CFTR | c.1938A>G (p.Gly646=) c.*1652A>G (n.*1652A>G) c.1755A>G (p.Gly585=) c.*238A>G (n.*238A>G) c.*1762A>G (n.*1762A>G) c.1512A>G (p.Gly504=) c.1402-10721A>G (n.1402-10721A>G) c.1848A>G (p.Gly616=) c.2028A>G (p.Gly676=) c.1695A>G (p.Gly565=) | ClinVar |
7 | g.117592105A>T | CA164947607 | CFTR | c.1938A>T (p.Gly646=) c.*1652A>T (n.*1652A>T) c.1755A>T (p.Gly585=) c.*238A>T (n.*238A>T) c.*1762A>T (n.*1762A>T) c.1512A>T (p.Gly504=) c.1402-10721A>T (n.1402-10721A>T) c.1848A>T (p.Gly616=) c.2028A>T (p.Gly676=) c.1695A>T (p.Gly565=) | dbSNP gnomAD v4 |
7 | g.117592106T>A | CA368978906 | CFTR | c.1939T>A (p.Cys647Ser) c.*1653T>A (n.*1653T>A) c.1756T>A (p.Cys586Ser) c.*239T>A (n.*239T>A) c.*1763T>A (n.*1763T>A) c.1513T>A (p.Cys505Ser) c.1402-10720T>A (n.1402-10720T>A) c.1849T>A (p.Cys617Ser) c.2029T>A (p.Cys677Ser) c.1696T>A (p.Cys566Ser) | ClinVar |
7 | g.117592106T>C | CA368978903 | CFTR | c.1939T>C (p.Cys647Arg) c.*1653T>C (n.*1653T>C) c.1756T>C (p.Cys586Arg) c.*239T>C (n.*239T>C) c.*1763T>C (n.*1763T>C) c.1513T>C (p.Cys505Arg) c.1402-10720T>C (n.1402-10720T>C) c.1849T>C (p.Cys617Arg) c.2029T>C (p.Cys677Arg) c.1696T>C (p.Cys566Arg) | |
7 | g.117592106T>G | CA368978905 | CFTR | c.1939T>G (p.Cys647Gly) c.*1653T>G (n.*1653T>G) c.1756T>G (p.Cys586Gly) c.*239T>G (n.*239T>G) c.*1763T>G (n.*1763T>G) c.1513T>G (p.Cys505Gly) c.1402-10720T>G (n.1402-10720T>G) c.1849T>G (p.Cys617Gly) c.2029T>G (p.Cys677Gly) c.1696T>G (p.Cys566Gly) | |
7 | g.117592107G>A | CA368978909 | CFTR | c.1940G>A (p.Cys647Tyr) c.*1654G>A (n.*1654G>A) c.1757G>A (p.Cys586Tyr) c.*240G>A (n.*240G>A) c.*1764G>A (n.*1764G>A) c.1514G>A (p.Cys505Tyr) c.1402-10719G>A (n.1402-10719G>A) c.1850G>A (p.Cys617Tyr) c.2030G>A (p.Cys677Tyr) c.1697G>A (p.Cys566Tyr) | gnomAD v4 |
7 | g.117592107G>C | CA368978910 | CFTR | c.1940G>C (p.Cys647Ser) c.*1654G>C (n.*1654G>C) c.1757G>C (p.Cys586Ser) c.*240G>C (n.*240G>C) c.*1764G>C (n.*1764G>C) c.1514G>C (p.Cys505Ser) c.1402-10719G>C (n.1402-10719G>C) c.1850G>C (p.Cys617Ser) c.2030G>C (p.Cys677Ser) c.1697G>C (p.Cys566Ser) | |
7 | g.117592107G>T | CA368978912 | CFTR | c.1940G>T (p.Cys647Phe) c.*1654G>T (n.*1654G>T) c.1757G>T (p.Cys586Phe) c.*240G>T (n.*240G>T) c.*1764G>T (n.*1764G>T) c.1514G>T (p.Cys505Phe) c.1402-10719G>T (n.1402-10719G>T) c.1850G>T (p.Cys617Phe) c.2030G>T (p.Cys677Phe) c.1697G>T (p.Cys566Phe) | |
7 | g.117592108T>A | CA368978914 | CFTR | c.1941T>A (p.Cys647Ter) c.*1655T>A (n.*1655T>A) c.1758T>A (p.Cys586Ter) c.*241T>A (n.*241T>A) c.*1765T>A (n.*1765T>A) c.1515T>A (p.Cys505Ter) c.1402-10718T>A (n.1402-10718T>A) c.1851T>A (p.Cys617Ter) c.2031T>A (p.Cys677Ter) c.1698T>A (p.Cys566Ter) | ClinVar |
7 | g.117592108T>C | CA457448899 | CFTR | c.1941T>C (p.Cys647=) c.*1655T>C (n.*1655T>C) c.1758T>C (p.Cys586=) c.*241T>C (n.*241T>C) c.*1765T>C (n.*1765T>C) c.1515T>C (p.Cys505=) c.1402-10718T>C (n.1402-10718T>C) c.1851T>C (p.Cys617=) c.2031T>C (p.Cys677=) c.1698T>C (p.Cys566=) | ClinVar |
7 | g.117592108T>G | CA368978916 | CFTR | c.1941T>G (p.Cys647Trp) c.*1655T>G (n.*1655T>G) c.1758T>G (p.Cys586Trp) c.*241T>G (n.*241T>G) c.*1765T>G (n.*1765T>G) c.1515T>G (p.Cys505Trp) c.1402-10718T>G (n.1402-10718T>G) c.1851T>G (p.Cys617Trp) c.2031T>G (p.Cys677Trp) c.1698T>G (p.Cys566Trp) | |
7 | g.117592109G>A | CA4451117 | CFTR | c.1942G>A (p.Asp648Asn) c.*1656G>A (n.*1656G>A) c.1759G>A (p.Asp587Asn) c.*242G>A (n.*242G>A) c.*1766G>A (n.*1766G>A) c.1516G>A (p.Asp506Asn) c.1402-10717G>A (n.1402-10717G>A) c.1852G>A (p.Asp618Asn) c.2032G>A (p.Asp678Asn) c.1699G>A (p.Asp567Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.117592109G>C | CA368978922 | CFTR | c.1942G>C (p.Asp648His) c.*1656G>C (n.*1656G>C) c.1759G>C (p.Asp587His) c.*242G>C (n.*242G>C) c.*1766G>C (n.*1766G>C) c.1516G>C (p.Asp506His) c.1402-10717G>C (n.1402-10717G>C) c.1852G>C (p.Asp618His) c.2032G>C (p.Asp678His) c.1699G>C (p.Asp567His) | |
7 | g.117592109G= | CA1737394273 | CFTR | c.1942G= (p.Asp648=) c.*1656G= (n.*1656G=) c.1759G= (p.Asp587=) c.*242G= (n.*242G=) c.*1766G= (n.*1766G=) c.1516G= (p.Asp506=) c.1402-10717G= (n.1402-10717G=) c.1852G= (p.Asp618=) c.2032G= (p.Asp678=) c.1699G= (p.Asp567=) | |
7 | g.117592109G>T | CA368978921 | CFTR | c.1942G>T (p.Asp648Tyr) c.*1656G>T (n.*1656G>T) c.1759G>T (p.Asp587Tyr) c.*242G>T (n.*242G>T) c.*1766G>T (n.*1766G>T) c.1516G>T (p.Asp506Tyr) c.1402-10717G>T (n.1402-10717G>T) c.1852G>T (p.Asp618Tyr) c.2032G>T (p.Asp678Tyr) c.1699G>T (p.Asp567Tyr) | |
7 | g.117592109_117592110delinsGA | CA1737394274 | CFTR | c.1942_1943delinsGA (p.Asp648=) c.*1656_*1657delinsGA (n.*1656_*1657delinsGA) c.1759_1760delinsGA (p.Asp587=) c.*242_*243delinsGA (n.*242_*243delinsGA) c.*1766_*1767delinsGA (n.*1766_*1767delinsGA) c.1516_1517delinsGA (p.Asp506=) c.1402-10717_1402-10716delinsGA (n.1402-10717_1402-10716delinsGA) c.1852_1853delinsGA (p.Asp618=) c.2032_2033delinsGA (p.Asp678=) c.1699_1700delinsGA (p.Asp567=) | |
7 | g.117592110del | CA832105444 | CFTR | c.1943del (p.Asp648ValfsTer15) c.*1657del (n.*1657del) c.1760del (p.Asp587ValfsTer15) c.*243del (n.*243del) c.*1767del (n.*1767del) c.1517del (p.Asp506ValfsTer15) c.1402-10716del (n.1402-10716del) c.1853del (p.Asp618ValfsTer15) c.2033del (p.Asp678ValfsTer15) c.1700del (p.Asp567ValfsTer15) | ClinVar dbSNP |
7 | g.117592110A= | CA1737394283 | CFTR | c.1943A= (p.Asp648=) c.*1657A= (n.*1657A=) c.1760A= (p.Asp587=) c.*243A= (n.*243A=) c.*1767A= (n.*1767A=) c.1517A= (p.Asp506=) c.1402-10716A= (n.1402-10716A=) c.1853A= (p.Asp618=) c.2033A= (p.Asp678=) c.1700A= (p.Asp567=) | |
7 | g.117592110A>C | CA368978924 | CFTR | c.1943A>C (p.Asp648Ala) c.*1657A>C (n.*1657A>C) c.1760A>C (p.Asp587Ala) c.*243A>C (n.*243A>C) c.*1767A>C (n.*1767A>C) c.1517A>C (p.Asp506Ala) c.1402-10716A>C (n.1402-10716A>C) c.1853A>C (p.Asp618Ala) c.2033A>C (p.Asp678Ala) c.1700A>C (p.Asp567Ala) | |
7 | g.117592110A>G | CA368978926 | CFTR | c.1943A>G (p.Asp648Gly) c.*1657A>G (n.*1657A>G) c.1760A>G (p.Asp587Gly) c.*243A>G (n.*243A>G) c.*1767A>G (n.*1767A>G) c.1517A>G (p.Asp506Gly) c.1402-10716A>G (n.1402-10716A>G) c.1853A>G (p.Asp618Gly) c.2033A>G (p.Asp678Gly) c.1700A>G (p.Asp567Gly) | dbSNP |
7 | g.117592110A>T | CA325587 | CFTR | c.1943A>T (p.Asp648Val) c.*1657A>T (n.*1657A>T) c.1760A>T (p.Asp587Val) c.*243A>T (n.*243A>T) c.*1767A>T (n.*1767A>T) c.1517A>T (p.Asp506Val) c.1402-10716A>T (n.1402-10716A>T) c.1853A>T (p.Asp618Val) c.2033A>T (p.Asp678Val) c.1700A>T (p.Asp567Val) | ClinVar dbSNP |
7 | g.117592111T>A | CA368978934 | CFTR | c.1944T>A (p.Asp648Glu) c.*1658T>A (n.*1658T>A) c.1761T>A (p.Asp587Glu) c.*244T>A (n.*244T>A) c.*1768T>A (n.*1768T>A) c.1518T>A (p.Asp506Glu) c.1402-10715T>A (n.1402-10715T>A) c.1854T>A (p.Asp618Glu) c.2034T>A (p.Asp678Glu) c.1701T>A (p.Asp567Glu) | |
7 | g.117592111T>C | CA457448900 | CFTR | c.1944T>C (p.Asp648=) c.*1658T>C (n.*1658T>C) c.1761T>C (p.Asp587=) c.*244T>C (n.*244T>C) c.*1768T>C (n.*1768T>C) c.1518T>C (p.Asp506=) c.1402-10715T>C (n.1402-10715T>C) c.1854T>C (p.Asp618=) c.2034T>C (p.Asp678=) c.1701T>C (p.Asp567=) | |
7 | g.117592111T>G | CA368978936 | CFTR | c.1944T>G (p.Asp648Glu) c.*1658T>G (n.*1658T>G) c.1761T>G (p.Asp587Glu) c.*244T>G (n.*244T>G) c.*1768T>G (n.*1768T>G) c.1518T>G (p.Asp506Glu) c.1402-10715T>G (n.1402-10715T>G) c.1854T>G (p.Asp618Glu) c.2034T>G (p.Asp678Glu) c.1701T>G (p.Asp567Glu) | |
7 | g.117592112T>A | CA368978938 | CFTR | c.1945T>A (p.Ser649Thr) c.*1659T>A (n.*1659T>A) c.1762T>A (p.Ser588Thr) c.*245T>A (n.*245T>A) c.*1769T>A (n.*1769T>A) c.1519T>A (p.Ser507Thr) c.1402-10714T>A (n.1402-10714T>A) c.1855T>A (p.Ser619Thr) c.2035T>A (p.Ser679Thr) c.1702T>A (p.Ser568Thr) | |
7 | g.117592112T>C | CA368978940 | CFTR | c.1945T>C (p.Ser649Pro) c.*1659T>C (n.*1659T>C) c.1762T>C (p.Ser588Pro) c.*245T>C (n.*245T>C) c.*1769T>C (n.*1769T>C) c.1519T>C (p.Ser507Pro) c.1402-10714T>C (n.1402-10714T>C) c.1855T>C (p.Ser619Pro) c.2035T>C (p.Ser679Pro) c.1702T>C (p.Ser568Pro) | |
7 | g.117592112T>G | CA368978941 | CFTR | c.1945T>G (p.Ser649Ala) c.*1659T>G (n.*1659T>G) c.1762T>G (p.Ser588Ala) c.*245T>G (n.*245T>G) c.*1769T>G (n.*1769T>G) c.1519T>G (p.Ser507Ala) c.1402-10714T>G (n.1402-10714T>G) c.1855T>G (p.Ser619Ala) c.2035T>G (p.Ser679Ala) c.1702T>G (p.Ser568Ala) | |
7 | g.117592113C>A | CA368978943 | CFTR | c.1946C>A (p.Ser649Tyr) c.*1660C>A (n.*1660C>A) c.1763C>A (p.Ser588Tyr) c.*246C>A (n.*246C>A) c.*1770C>A (n.*1770C>A) c.1520C>A (p.Ser507Tyr) c.1402-10713C>A (n.1402-10713C>A) c.1856C>A (p.Ser619Tyr) c.2036C>A (p.Ser679Tyr) c.1703C>A (p.Ser568Tyr) | |
7 | g.117592113C>G | CA368978945 | CFTR | c.1946C>G (p.Ser649Cys) c.*1660C>G (n.*1660C>G) c.1763C>G (p.Ser588Cys) c.*246C>G (n.*246C>G) c.*1770C>G (n.*1770C>G) c.1520C>G (p.Ser507Cys) c.1402-10713C>G (n.1402-10713C>G) c.1856C>G (p.Ser619Cys) c.2036C>G (p.Ser679Cys) c.1703C>G (p.Ser568Cys) | |
7 | g.117592113C>T | CA368978947 | CFTR | c.1946C>T (p.Ser649Phe) c.*1660C>T (n.*1660C>T) c.1763C>T (p.Ser588Phe) c.*246C>T (n.*246C>T) c.*1770C>T (n.*1770C>T) c.1520C>T (p.Ser507Phe) c.1402-10713C>T (n.1402-10713C>T) c.1856C>T (p.Ser619Phe) c.2036C>T (p.Ser679Phe) c.1703C>T (p.Ser568Phe) | |
7 | g.117592114T>A | CA457448901 | CFTR | c.1947T>A (p.Ser649=) c.*1661T>A (n.*1661T>A) c.1764T>A (p.Ser588=) c.*247T>A (n.*247T>A) c.*1771T>A (n.*1771T>A) c.1521T>A (p.Ser507=) c.1402-10712T>A (n.1402-10712T>A) c.1857T>A (p.Ser619=) c.2037T>A (p.Ser679=) c.1704T>A (p.Ser568=) | |
7 | g.117592114T>C | CA4451118 | CFTR | c.1947T>C (p.Ser649=) c.*1661T>C (n.*1661T>C) c.1764T>C (p.Ser588=) c.*247T>C (n.*247T>C) c.*1771T>C (n.*1771T>C) c.1521T>C (p.Ser507=) c.1402-10712T>C (n.1402-10712T>C) c.1857T>C (p.Ser619=) c.2037T>C (p.Ser679=) c.1704T>C (p.Ser568=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592114T>G | CA457448902 | CFTR | c.1947T>G (p.Ser649=) c.*1661T>G (n.*1661T>G) c.1764T>G (p.Ser588=) c.*247T>G (n.*247T>G) c.*1771T>G (n.*1771T>G) c.1521T>G (p.Ser507=) c.1402-10712T>G (n.1402-10712T>G) c.1857T>G (p.Ser619=) c.2037T>G (p.Ser679=) c.1704T>G (p.Ser568=) | |
7 | g.117592114T= | CA1737394288 | CFTR | c.1947T= (p.Ser649=) c.*1661T= (n.*1661T=) c.1764T= (p.Ser588=) c.*247T= (n.*247T=) c.*1771T= (n.*1771T=) c.1521T= (p.Ser507=) c.1402-10712T= (n.1402-10712T=) c.1857T= (p.Ser619=) c.2037T= (p.Ser679=) c.1704T= (p.Ser568=) | |
7 | g.117592116del | CA2580076509 | CFTR | c.1949del (p.Phe650SerfsTer13) c.*1663del (n.*1663del) c.1766del (p.Phe589SerfsTer13) c.*249del (n.*249del) c.*1773del (n.*1773del) c.1523del (p.Phe508SerfsTer13) c.1402-10710del (n.1402-10710del) c.1859del (p.Phe620SerfsTer13) c.2039del (p.Phe680SerfsTer13) c.1706del (p.Phe569SerfsTer13) | ClinVar |
7 | g.117592115T>A | CA368978951 | CFTR | c.1948T>A (p.Phe650Ile) c.*1662T>A (n.*1662T>A) c.1765T>A (p.Phe589Ile) c.*248T>A (n.*248T>A) c.*1772T>A (n.*1772T>A) c.1522T>A (p.Phe508Ile) c.1402-10711T>A (n.1402-10711T>A) c.1858T>A (p.Phe620Ile) c.2038T>A (p.Phe680Ile) c.1705T>A (p.Phe569Ile) | |
7 | g.117592115T>C | CA368978954 | CFTR | c.1948T>C (p.Phe650Leu) c.*1662T>C (n.*1662T>C) c.1765T>C (p.Phe589Leu) c.*248T>C (n.*248T>C) c.*1772T>C (n.*1772T>C) c.1522T>C (p.Phe508Leu) c.1402-10711T>C (n.1402-10711T>C) c.1858T>C (p.Phe620Leu) c.2038T>C (p.Phe680Leu) c.1705T>C (p.Phe569Leu) | |
7 | g.117592115T>G | CA368978952 | CFTR | c.1948T>G (p.Phe650Val) c.*1662T>G (n.*1662T>G) c.1765T>G (p.Phe589Val) c.*248T>G (n.*248T>G) c.*1772T>G (n.*1772T>G) c.1522T>G (p.Phe508Val) c.1402-10711T>G (n.1402-10711T>G) c.1858T>G (p.Phe620Val) c.2038T>G (p.Phe680Val) c.1705T>G (p.Phe569Val) | |
7 | g.117592116T>A | CA368978959 | CFTR | c.1949T>A (p.Phe650Tyr) c.*1663T>A (n.*1663T>A) c.1766T>A (p.Phe589Tyr) c.*249T>A (n.*249T>A) c.*1773T>A (n.*1773T>A) c.1523T>A (p.Phe508Tyr) c.1402-10710T>A (n.1402-10710T>A) c.1859T>A (p.Phe620Tyr) c.2039T>A (p.Phe680Tyr) c.1706T>A (p.Phe569Tyr) | |
7 | g.117592116T>C | CA368978960 | CFTR | c.1949T>C (p.Phe650Ser) c.*1663T>C (n.*1663T>C) c.1766T>C (p.Phe589Ser) c.*249T>C (n.*249T>C) c.*1773T>C (n.*1773T>C) c.1523T>C (p.Phe508Ser) c.1402-10710T>C (n.1402-10710T>C) c.1859T>C (p.Phe620Ser) c.2039T>C (p.Phe680Ser) c.1706T>C (p.Phe569Ser) | dbSNP gnomAD v4 |
7 | g.117592116T>G | CA368978963 | CFTR | c.1949T>G (p.Phe650Cys) c.*1663T>G (n.*1663T>G) c.1766T>G (p.Phe589Cys) c.*249T>G (n.*249T>G) c.*1773T>G (n.*1773T>G) c.1523T>G (p.Phe508Cys) c.1402-10710T>G (n.1402-10710T>G) c.1859T>G (p.Phe620Cys) c.2039T>G (p.Phe680Cys) c.1706T>G (p.Phe569Cys) | |
7 | g.117592116T= | CA1737394290 | CFTR | c.1949T= (p.Phe650=) c.*1663T= (n.*1663T=) c.1766T= (p.Phe589=) c.*249T= (n.*249T=) c.*1773T= (n.*1773T=) c.1523T= (p.Phe508=) c.1402-10710T= (n.1402-10710T=) c.1859T= (p.Phe620=) c.2039T= (p.Phe680=) c.1706T= (p.Phe569=) | |
7 | g.117592117C>A | CA4451120 | CFTR | c.1950C>A (p.Phe650Leu) c.*1664C>A (n.*1664C>A) c.1767C>A (p.Phe589Leu) c.*250C>A (n.*250C>A) c.*1774C>A (n.*1774C>A) c.1524C>A (p.Phe508Leu) c.1402-10709C>A (n.1402-10709C>A) c.1860C>A (p.Phe620Leu) c.2040C>A (p.Phe680Leu) c.1707C>A (p.Phe569Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592117C= | CA1737394298 | CFTR | c.1950C= (p.Phe650=) c.*1664C= (n.*1664C=) c.1767C= (p.Phe589=) c.*250C= (n.*250C=) c.*1774C= (n.*1774C=) c.1524C= (p.Phe508=) c.1402-10709C= (n.1402-10709C=) c.1860C= (p.Phe620=) c.2040C= (p.Phe680=) c.1707C= (p.Phe569=) | |
7 | g.117592117C>G | CA368978968 | CFTR | c.1950C>G (p.Phe650Leu) c.*1664C>G (n.*1664C>G) c.1767C>G (p.Phe589Leu) c.*250C>G (n.*250C>G) c.*1774C>G (n.*1774C>G) c.1524C>G (p.Phe508Leu) c.1402-10709C>G (n.1402-10709C>G) c.1860C>G (p.Phe620Leu) c.2040C>G (p.Phe680Leu) c.1707C>G (p.Phe569Leu) | |
7 | g.117592117C>T | CA4451119 | CFTR | c.1950C>T (p.Phe650=) c.*1664C>T (n.*1664C>T) c.1767C>T (p.Phe589=) c.*250C>T (n.*250C>T) c.*1774C>T (n.*1774C>T) c.1524C>T (p.Phe508=) c.1402-10709C>T (n.1402-10709C>T) c.1860C>T (p.Phe620=) c.2040C>T (p.Phe680=) c.1707C>T (p.Phe569=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.117592118G>A | CA4451121 | CFTR | c.1951G>A (p.Asp651Asn) c.*1665G>A (n.*1665G>A) c.1768G>A (p.Asp590Asn) c.*251G>A (n.*251G>A) c.*1775G>A (n.*1775G>A) c.1525G>A (p.Asp509Asn) c.1402-10708G>A (n.1402-10708G>A) c.1861G>A (p.Asp621Asn) c.2041G>A (p.Asp681Asn) c.1708G>A (p.Asp570Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592118G>C | CA368978971 | CFTR | c.1951G>C (p.Asp651His) c.*1665G>C (n.*1665G>C) c.1768G>C (p.Asp590His) c.*251G>C (n.*251G>C) c.*1775G>C (n.*1775G>C) c.1525G>C (p.Asp509His) c.1402-10708G>C (n.1402-10708G>C) c.1861G>C (p.Asp621His) c.2041G>C (p.Asp681His) c.1708G>C (p.Asp570His) | ClinVar |
7 | g.117592118G= | CA1737394302 | CFTR | c.1951G= (p.Asp651=) c.*1665G= (n.*1665G=) c.1768G= (p.Asp590=) c.*251G= (n.*251G=) c.*1775G= (n.*1775G=) c.1525G= (p.Asp509=) c.1402-10708G= (n.1402-10708G=) c.1861G= (p.Asp621=) c.2041G= (p.Asp681=) c.1708G= (p.Asp570=) | |
7 | g.117592118G>T | CA368978972 | CFTR | c.1951G>T (p.Asp651Tyr) c.*1665G>T (n.*1665G>T) c.1768G>T (p.Asp590Tyr) c.*251G>T (n.*251G>T) c.*1775G>T (n.*1775G>T) c.1525G>T (p.Asp509Tyr) c.1402-10708G>T (n.1402-10708G>T) c.1861G>T (p.Asp621Tyr) c.2041G>T (p.Asp681Tyr) c.1708G>T (p.Asp570Tyr) | |
7 | g.117592119A>C | CA368978975 | CFTR | c.1952A>C (p.Asp651Ala) c.*1666A>C (n.*1666A>C) c.1769A>C (p.Asp590Ala) c.*252A>C (n.*252A>C) c.*1776A>C (n.*1776A>C) c.1526A>C (p.Asp509Ala) c.1402-10707A>C (n.1402-10707A>C) c.1862A>C (p.Asp621Ala) c.2042A>C (p.Asp681Ala) c.1709A>C (p.Asp570Ala) | |
7 | g.117592119A>G | CA368978977 | CFTR | c.1952A>G (p.Asp651Gly) c.*1666A>G (n.*1666A>G) c.1769A>G (p.Asp590Gly) c.*252A>G (n.*252A>G) c.*1776A>G (n.*1776A>G) c.1526A>G (p.Asp509Gly) c.1402-10707A>G (n.1402-10707A>G) c.1862A>G (p.Asp621Gly) c.2042A>G (p.Asp681Gly) c.1709A>G (p.Asp570Gly) | |
7 | g.117592119A>T | CA368978978 | CFTR | c.1952A>T (p.Asp651Val) c.*1666A>T (n.*1666A>T) c.1769A>T (p.Asp590Val) c.*252A>T (n.*252A>T) c.*1776A>T (n.*1776A>T) c.1526A>T (p.Asp509Val) c.1402-10707A>T (n.1402-10707A>T) c.1862A>T (p.Asp621Val) c.2042A>T (p.Asp681Val) c.1709A>T (p.Asp570Val) | |
7 | g.117592120C>A | CA368978981 | CFTR | c.1953C>A (p.Asp651Glu) c.*1667C>A (n.*1667C>A) c.1770C>A (p.Asp590Glu) c.*253C>A (n.*253C>A) c.*1777C>A (n.*1777C>A) c.1527C>A (p.Asp509Glu) c.1402-10706C>A (n.1402-10706C>A) c.1863C>A (p.Asp621Glu) c.2043C>A (p.Asp681Glu) c.1710C>A (p.Asp570Glu) | |
7 | g.117592120C>G | CA368978983 | CFTR | c.1953C>G (p.Asp651Glu) c.*1667C>G (n.*1667C>G) c.1770C>G (p.Asp590Glu) c.*253C>G (n.*253C>G) c.*1777C>G (n.*1777C>G) c.1527C>G (p.Asp509Glu) c.1402-10706C>G (n.1402-10706C>G) c.1863C>G (p.Asp621Glu) c.2043C>G (p.Asp681Glu) c.1710C>G (p.Asp570Glu) | |
7 | g.117592120C>T | CA457448903 | CFTR | c.1953C>T (p.Asp651=) c.*1667C>T (n.*1667C>T) c.1770C>T (p.Asp590=) c.*253C>T (n.*253C>T) c.*1777C>T (n.*1777C>T) c.1527C>T (p.Asp509=) c.1402-10706C>T (n.1402-10706C>T) c.1863C>T (p.Asp621=) c.2043C>T (p.Asp681=) c.1710C>T (p.Asp570=) | ClinVar gnomAD v4 |
7 | g.117592121C>A | CA4451122 | CFTR | c.1954C>A (p.Gln652Lys) c.*1668C>A (n.*1668C>A) c.1771C>A (p.Gln591Lys) c.*254C>A (n.*254C>A) c.*1778C>A (n.*1778C>A) c.1528C>A (p.Gln510Lys) c.1402-10705C>A (n.1402-10705C>A) c.1864C>A (p.Gln622Lys) c.2044C>A (p.Gln682Lys) c.1711C>A (p.Gln571Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592121C= | CA1737394308 | CFTR | c.1954C= (p.Gln652=) c.*1668C= (n.*1668C=) c.1771C= (p.Gln591=) c.*254C= (n.*254C=) c.*1778C= (n.*1778C=) c.1528C= (p.Gln510=) c.1402-10705C= (n.1402-10705C=) c.1864C= (p.Gln622=) c.2044C= (p.Gln682=) c.1711C= (p.Gln571=) | |
7 | g.117592121C>G | CA4451123 | CFTR | c.1954C>G (p.Gln652Glu) c.*1668C>G (n.*1668C>G) c.1771C>G (p.Gln591Glu) c.*254C>G (n.*254C>G) c.*1778C>G (n.*1778C>G) c.1528C>G (p.Gln510Glu) c.1402-10705C>G (n.1402-10705C>G) c.1864C>G (p.Gln622Glu) c.2044C>G (p.Gln682Glu) c.1711C>G (p.Gln571Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592121C>T | CA368978987 | CFTR | c.1954C>T (p.Gln652Ter) c.*1668C>T (n.*1668C>T) c.1771C>T (p.Gln591Ter) c.*254C>T (n.*254C>T) c.*1778C>T (n.*1778C>T) c.1528C>T (p.Gln510Ter) c.1402-10705C>T (n.1402-10705C>T) c.1864C>T (p.Gln622Ter) c.2044C>T (p.Gln682Ter) c.1711C>T (p.Gln571Ter) | |
7 | g.117592122A>C | CA368978988 | CFTR | c.1955A>C (p.Gln652Pro) c.*1669A>C (n.*1669A>C) c.1772A>C (p.Gln591Pro) c.*255A>C (n.*255A>C) c.*1779A>C (n.*1779A>C) c.1529A>C (p.Gln510Pro) c.1402-10704A>C (n.1402-10704A>C) c.1865A>C (p.Gln622Pro) c.2045A>C (p.Gln682Pro) c.1712A>C (p.Gln571Pro) | ClinVar gnomAD v4 |
7 | g.117592122A>G | CA368978989 | CFTR | c.1955A>G (p.Gln652Arg) c.*1669A>G (n.*1669A>G) c.1772A>G (p.Gln591Arg) c.*255A>G (n.*255A>G) c.*1779A>G (n.*1779A>G) c.1529A>G (p.Gln510Arg) c.1402-10704A>G (n.1402-10704A>G) c.1865A>G (p.Gln622Arg) c.2045A>G (p.Gln682Arg) c.1712A>G (p.Gln571Arg) | |
7 | g.117592122A>T | CA368978990 | CFTR | c.1955A>T (p.Gln652Leu) c.*1669A>T (n.*1669A>T) c.1772A>T (p.Gln591Leu) c.*255A>T (n.*255A>T) c.*1779A>T (n.*1779A>T) c.1529A>T (p.Gln510Leu) c.1402-10704A>T (n.1402-10704A>T) c.1865A>T (p.Gln622Leu) c.2045A>T (p.Gln682Leu) c.1712A>T (p.Gln571Leu) | |
7 | g.117592123A>C | CA368978991 | CFTR | c.1956A>C (p.Gln652His) c.*1670A>C (n.*1670A>C) c.1773A>C (p.Gln591His) c.*256A>C (n.*256A>C) c.*1780A>C (n.*1780A>C) c.1530A>C (p.Gln510His) c.1402-10703A>C (n.1402-10703A>C) c.1866A>C (p.Gln622His) c.2046A>C (p.Gln682His) c.1713A>C (p.Gln571His) | |
7 | g.117592123A>G | CA457448904 | CFTR | c.1956A>G (p.Gln652=) c.*1670A>G (n.*1670A>G) c.1773A>G (p.Gln591=) c.*256A>G (n.*256A>G) c.*1780A>G (n.*1780A>G) c.1530A>G (p.Gln510=) c.1402-10703A>G (n.1402-10703A>G) c.1866A>G (p.Gln622=) c.2046A>G (p.Gln682=) c.1713A>G (p.Gln571=) | |
7 | g.117592123A>T | CA368978993 | CFTR | c.1956A>T (p.Gln652His) c.*1670A>T (n.*1670A>T) c.1773A>T (p.Gln591His) c.*256A>T (n.*256A>T) c.*1780A>T (n.*1780A>T) c.1530A>T (p.Gln510His) c.1402-10703A>T (n.1402-10703A>T) c.1866A>T (p.Gln622His) c.2046A>T (p.Gln682His) c.1713A>T (p.Gln571His) | |
7 | g.117592124T>A | CA368978994 | CFTR | c.1957T>A (p.Phe653Ile) c.*1671T>A (n.*1671T>A) c.1774T>A (p.Phe592Ile) c.*257T>A (n.*257T>A) c.*1781T>A (n.*1781T>A) c.1531T>A (p.Phe511Ile) c.1402-10702T>A (n.1402-10702T>A) c.1867T>A (p.Phe623Ile) c.2047T>A (p.Phe683Ile) c.1714T>A (p.Phe572Ile) | |
7 | g.117592124T>C | CA368978996 | CFTR | c.1957T>C (p.Phe653Leu) c.*1671T>C (n.*1671T>C) c.1774T>C (p.Phe592Leu) c.*257T>C (n.*257T>C) c.*1781T>C (n.*1781T>C) c.1531T>C (p.Phe511Leu) c.1402-10702T>C (n.1402-10702T>C) c.1867T>C (p.Phe623Leu) c.2047T>C (p.Phe683Leu) c.1714T>C (p.Phe572Leu) | |
7 | g.117592124T>G | CA368978998 | CFTR | c.1957T>G (p.Phe653Val) c.*1671T>G (n.*1671T>G) c.1774T>G (p.Phe592Val) c.*257T>G (n.*257T>G) c.*1781T>G (n.*1781T>G) c.1531T>G (p.Phe511Val) c.1402-10702T>G (n.1402-10702T>G) c.1867T>G (p.Phe623Val) c.2047T>G (p.Phe683Val) c.1714T>G (p.Phe572Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592124T= | CA1737394313 | CFTR | c.1957T= (p.Phe653=) c.*1671T= (n.*1671T=) c.1774T= (p.Phe592=) c.*257T= (n.*257T=) c.*1781T= (n.*1781T=) c.1531T= (p.Phe511=) c.1402-10702T= (n.1402-10702T=) c.1867T= (p.Phe623=) c.2047T= (p.Phe683=) c.1714T= (p.Phe572=) | |
7 | g.117592125T>A | CA368979002 | CFTR | c.1958T>A (p.Phe653Tyr) c.*1672T>A (n.*1672T>A) c.1775T>A (p.Phe592Tyr) c.*258T>A (n.*258T>A) c.*1782T>A (n.*1782T>A) c.1532T>A (p.Phe511Tyr) c.1402-10701T>A (n.1402-10701T>A) c.1868T>A (p.Phe623Tyr) c.2048T>A (p.Phe683Tyr) c.1715T>A (p.Phe572Tyr) | |
7 | g.117592125T>C | CA368979004 | CFTR | c.1958T>C (p.Phe653Ser) c.*1672T>C (n.*1672T>C) c.1775T>C (p.Phe592Ser) c.*258T>C (n.*258T>C) c.*1782T>C (n.*1782T>C) c.1532T>C (p.Phe511Ser) c.1402-10701T>C (n.1402-10701T>C) c.1868T>C (p.Phe623Ser) c.2048T>C (p.Phe683Ser) c.1715T>C (p.Phe572Ser) | |
7 | g.117592125T>G | CA368979005 | CFTR | c.1958T>G (p.Phe653Cys) c.*1672T>G (n.*1672T>G) c.1775T>G (p.Phe592Cys) c.*258T>G (n.*258T>G) c.*1782T>G (n.*1782T>G) c.1532T>G (p.Phe511Cys) c.1402-10701T>G (n.1402-10701T>G) c.1868T>G (p.Phe623Cys) c.2048T>G (p.Phe683Cys) c.1715T>G (p.Phe572Cys) | |
7 | g.117592126T>A | CA368979006 | CFTR | c.1959T>A (p.Phe653Leu) c.*1673T>A (n.*1673T>A) c.1776T>A (p.Phe592Leu) c.*259T>A (n.*259T>A) c.*1783T>A (n.*1783T>A) c.1533T>A (p.Phe511Leu) c.1402-10700T>A (n.1402-10700T>A) c.1869T>A (p.Phe623Leu) c.2049T>A (p.Phe683Leu) c.1716T>A (p.Phe572Leu) | |
7 | g.117592126T>C | CA457448905 | CFTR | c.1959T>C (p.Phe653=) c.*1673T>C (n.*1673T>C) c.1776T>C (p.Phe592=) c.*259T>C (n.*259T>C) c.*1783T>C (n.*1783T>C) c.1533T>C (p.Phe511=) c.1402-10700T>C (n.1402-10700T>C) c.1869T>C (p.Phe623=) c.2049T>C (p.Phe683=) c.1716T>C (p.Phe572=) | |
7 | g.117592126T>G | CA368979007 | CFTR | c.1959T>G (p.Phe653Leu) c.*1673T>G (n.*1673T>G) c.1776T>G (p.Phe592Leu) c.*259T>G (n.*259T>G) c.*1783T>G (n.*1783T>G) c.1533T>G (p.Phe511Leu) c.1402-10700T>G (n.1402-10700T>G) c.1869T>G (p.Phe623Leu) c.2049T>G (p.Phe683Leu) c.1716T>G (p.Phe572Leu) | |
7 | g.117592127A= | CA1737394315 | CFTR | c.1960A= (p.Ser654=) c.*1674A= (n.*1674A=) c.1777A= (p.Ser593=) c.*260A= (n.*260A=) c.*1784A= (n.*1784A=) c.1534A= (p.Ser512=) c.1402-10699A= (n.1402-10699A=) c.1870A= (p.Ser624=) c.2050A= (p.Ser684=) c.1717A= (p.Ser573=) | |
7 | g.117592127A>C | CA368979008 | CFTR | c.1960A>C (p.Ser654Arg) c.*1674A>C (n.*1674A>C) c.1777A>C (p.Ser593Arg) c.*260A>C (n.*260A>C) c.*1784A>C (n.*1784A>C) c.1534A>C (p.Ser512Arg) c.1402-10699A>C (n.1402-10699A>C) c.1870A>C (p.Ser624Arg) c.2050A>C (p.Ser684Arg) c.1717A>C (p.Ser573Arg) | |
7 | g.117592127A>G | CA164947637 | CFTR | c.1960A>G (p.Ser654Gly) c.*1674A>G (n.*1674A>G) c.1777A>G (p.Ser593Gly) c.*260A>G (n.*260A>G) c.*1784A>G (n.*1784A>G) c.1534A>G (p.Ser512Gly) c.1402-10699A>G (n.1402-10699A>G) c.1870A>G (p.Ser624Gly) c.2050A>G (p.Ser684Gly) c.1717A>G (p.Ser573Gly) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592127A>T | CA368979009 | CFTR | c.1960A>T (p.Ser654Cys) c.*1674A>T (n.*1674A>T) c.1777A>T (p.Ser593Cys) c.*260A>T (n.*260A>T) c.*1784A>T (n.*1784A>T) c.1534A>T (p.Ser512Cys) c.1402-10699A>T (n.1402-10699A>T) c.1870A>T (p.Ser624Cys) c.2050A>T (p.Ser684Cys) c.1717A>T (p.Ser573Cys) | ClinVar dbSNP |
7 | g.117592128G>A | CA368979010 | CFTR | c.1961G>A (p.Ser654Asn) c.*1675G>A (n.*1675G>A) c.1778G>A (p.Ser593Asn) c.*261G>A (n.*261G>A) c.*1785G>A (n.*1785G>A) c.1535G>A (p.Ser512Asn) c.1402-10698G>A (n.1402-10698G>A) c.1871G>A (p.Ser624Asn) c.2051G>A (p.Ser684Asn) c.1718G>A (p.Ser573Asn) | |
7 | g.117592128G>C | CA368979013 | CFTR | c.1961G>C (p.Ser654Thr) c.*1675G>C (n.*1675G>C) c.1778G>C (p.Ser593Thr) c.*261G>C (n.*261G>C) c.*1785G>C (n.*1785G>C) c.1535G>C (p.Ser512Thr) c.1402-10698G>C (n.1402-10698G>C) c.1871G>C (p.Ser624Thr) c.2051G>C (p.Ser684Thr) c.1718G>C (p.Ser573Thr) | |
7 | g.117592128G>T | CA368979011 | CFTR | c.1961G>T (p.Ser654Ile) c.*1675G>T (n.*1675G>T) c.1778G>T (p.Ser593Ile) c.*261G>T (n.*261G>T) c.*1785G>T (n.*1785G>T) c.1535G>T (p.Ser512Ile) c.1402-10698G>T (n.1402-10698G>T) c.1871G>T (p.Ser624Ile) c.2051G>T (p.Ser684Ile) c.1718G>T (p.Ser573Ile) |