UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.117592027T>A | CA368978481 | CFTR | c.1860T>A (p.His620Gln) c.*1574T>A (n.*1574T>A) c.1677T>A (p.His559Gln) c.*160T>A (n.*160T>A) c.*1684T>A (n.*1684T>A) c.1434T>A (p.His478Gln) c.1402-10799T>A (n.1402-10799T>A) c.1770T>A (p.His590Gln) c.1950T>A (p.His650Gln) c.1617T>A (p.His539Gln) | |
| 7 | g.117592027T>C | CA457448855 | CFTR | c.1860T>C (p.His620=) c.*1574T>C (n.*1574T>C) c.1677T>C (p.His559=) c.*160T>C (n.*160T>C) c.*1684T>C (n.*1684T>C) c.1434T>C (p.His478=) c.1402-10799T>C (n.1402-10799T>C) c.1770T>C (p.His590=) c.1950T>C (p.His650=) c.1617T>C (p.His539=) | ClinVar dbSNP |
| 7 | g.117592027T>G | CA326703 | CFTR | c.1860T>G (p.His620Gln) c.*1574T>G (n.*1574T>G) c.1677T>G (p.His559Gln) c.*160T>G (n.*160T>G) c.*1684T>G (n.*1684T>G) c.1434T>G (p.His478Gln) c.1402-10799T>G (n.1402-10799T>G) c.1770T>G (p.His590Gln) c.1950T>G (p.His650Gln) c.1617T>G (p.His539Gln) | ClinVar dbSNP |
| 7 | g.117592027T= | CA1737394035 | CFTR | c.1860T= (p.His620=) c.*1574T= (n.*1574T=) c.1677T= (p.His559=) c.*160T= (n.*160T=) c.*1684T= (n.*1684T=) c.1434T= (p.His478=) c.1402-10799T= (n.1402-10799T=) c.1770T= (p.His590=) c.1950T= (p.His650=) c.1617T= (p.His539=) | |
| 7 | g.117592027dup | CA2695208504 | CFTR | c.1860dup (p.Glu621Ter) c.*1574dup (n.*1574dup) c.1677dup (p.Glu560Ter) c.*160dup (n.*160dup) c.*1684dup (n.*1684dup) c.1434dup (p.Glu479Ter) c.1402-10799dup (n.1402-10799dup) c.1770dup (p.Glu591Ter) c.1950dup (p.Glu651Ter) c.1617dup (p.Glu540Ter) | |
| 7 | g.117592028G>A | CA368978489 | CFTR | c.1861G>A (p.Glu621Lys) c.*1575G>A (n.*1575G>A) c.1678G>A (p.Glu560Lys) c.*161G>A (n.*161G>A) c.*1685G>A (n.*1685G>A) c.1435G>A (p.Glu479Lys) c.1402-10798G>A (n.1402-10798G>A) c.1771G>A (p.Glu591Lys) c.1951G>A (p.Glu651Lys) c.1618G>A (p.Glu540Lys) | COSMIC |
| 7 | g.117592028G>C | CA368978490 | CFTR | c.1861G>C (p.Glu621Gln) c.*1575G>C (n.*1575G>C) c.1678G>C (p.Glu560Gln) c.*161G>C (n.*161G>C) c.*1685G>C (n.*1685G>C) c.1435G>C (p.Glu479Gln) c.1402-10798G>C (n.1402-10798G>C) c.1771G>C (p.Glu591Gln) c.1951G>C (p.Glu651Gln) c.1618G>C (p.Glu540Gln) | |
| 7 | g.117592028G= | CA1737394038 | CFTR | c.1861G= (p.Glu621=) c.*1575G= (n.*1575G=) c.1678G= (p.Glu560=) c.*161G= (n.*161G=) c.*1685G= (n.*1685G=) c.1435G= (p.Glu479=) c.1402-10798G= (n.1402-10798G=) c.1771G= (p.Glu591=) c.1951G= (p.Glu651=) c.1618G= (p.Glu540=) | |
| 7 | g.117592028G>T | CA368978491 | CFTR | c.1861G>T (p.Glu621Ter) c.*1575G>T (n.*1575G>T) c.1678G>T (p.Glu560Ter) c.*161G>T (n.*161G>T) c.*1685G>T (n.*1685G>T) c.1435G>T (p.Glu479Ter) c.1402-10798G>T (n.1402-10798G>T) c.1771G>T (p.Glu591Ter) c.1951G>T (p.Glu651Ter) c.1618G>T (p.Glu540Ter) | ClinVar dbSNP |
| 7 | g.117592029A= | CA1737394042 | CFTR | c.1862A= (p.Glu621=) c.*1576A= (n.*1576A=) c.1679A= (p.Glu560=) c.*162A= (n.*162A=) c.*1686A= (n.*1686A=) c.1436A= (p.Glu479=) c.1402-10797A= (n.1402-10797A=) c.1772A= (p.Glu591=) c.1952A= (p.Glu651=) c.1619A= (p.Glu540=) | |
| 7 | g.117592029A>C | CA368978492 | CFTR | c.1862A>C (p.Glu621Ala) c.*1576A>C (n.*1576A>C) c.1679A>C (p.Glu560Ala) c.*162A>C (n.*162A>C) c.*1686A>C (n.*1686A>C) c.1436A>C (p.Glu479Ala) c.1402-10797A>C (n.1402-10797A>C) c.1772A>C (p.Glu591Ala) c.1952A>C (p.Glu651Ala) c.1619A>C (p.Glu540Ala) | |
| 7 | g.117592029A>G | CA368978493 | CFTR | c.1862A>G (p.Glu621Gly) c.*1576A>G (n.*1576A>G) c.1679A>G (p.Glu560Gly) c.*162A>G (n.*162A>G) c.*1686A>G (n.*1686A>G) c.1436A>G (p.Glu479Gly) c.1402-10797A>G (n.1402-10797A>G) c.1772A>G (p.Glu591Gly) c.1952A>G (p.Glu651Gly) c.1619A>G (p.Glu540Gly) | dbSNP |
| 7 | g.117592029A>T | CA368978495 | CFTR | c.1862A>T (p.Glu621Val) c.*1576A>T (n.*1576A>T) c.1679A>T (p.Glu560Val) c.*162A>T (n.*162A>T) c.*1686A>T (n.*1686A>T) c.1436A>T (p.Glu479Val) c.1402-10797A>T (n.1402-10797A>T) c.1772A>T (p.Glu591Val) c.1952A>T (p.Glu651Val) c.1619A>T (p.Glu540Val) | |
| 7 | g.117592030A>C | CA368978498 | CFTR | c.1863A>C (p.Glu621Asp) c.*1577A>C (n.*1577A>C) c.1680A>C (p.Glu560Asp) c.*163A>C (n.*163A>C) c.*1687A>C (n.*1687A>C) c.1437A>C (p.Glu479Asp) c.1402-10796A>C (n.1402-10796A>C) c.1773A>C (p.Glu591Asp) c.1953A>C (p.Glu651Asp) c.1620A>C (p.Glu540Asp) | |
| 7 | g.117592030A>G | CA457448856 | CFTR | c.1863A>G (p.Glu621=) c.*1577A>G (n.*1577A>G) c.1680A>G (p.Glu560=) c.*163A>G (n.*163A>G) c.*1687A>G (n.*1687A>G) c.1437A>G (p.Glu479=) c.1402-10796A>G (n.1402-10796A>G) c.1773A>G (p.Glu591=) c.1953A>G (p.Glu651=) c.1620A>G (p.Glu540=) | ClinVar |
| 7 | g.117592030A>T | CA368978500 | CFTR | c.1863A>T (p.Glu621Asp) c.*1577A>T (n.*1577A>T) c.1680A>T (p.Glu560Asp) c.*163A>T (n.*163A>T) c.*1687A>T (n.*1687A>T) c.1437A>T (p.Glu479Asp) c.1402-10796A>T (n.1402-10796A>T) c.1773A>T (p.Glu591Asp) c.1953A>T (p.Glu651Asp) c.1620A>T (p.Glu540Asp) | |
| 7 | g.117592031G>A | CA368978503 | CFTR | c.1864G>A (p.Gly622Ser) c.*1578G>A (n.*1578G>A) c.1681G>A (p.Gly561Ser) c.*164G>A (n.*164G>A) c.*1688G>A (n.*1688G>A) c.1438G>A (p.Gly480Ser) c.1402-10795G>A (n.1402-10795G>A) c.1774G>A (p.Gly592Ser) c.1954G>A (p.Gly652Ser) c.1621G>A (p.Gly541Ser) | |
| 7 | g.117592031G>C | CA368978505 | CFTR | c.1864G>C (p.Gly622Arg) c.*1578G>C (n.*1578G>C) c.1681G>C (p.Gly561Arg) c.*164G>C (n.*164G>C) c.*1688G>C (n.*1688G>C) c.1438G>C (p.Gly480Arg) c.1402-10795G>C (n.1402-10795G>C) c.1774G>C (p.Gly592Arg) c.1954G>C (p.Gly652Arg) c.1621G>C (p.Gly541Arg) | |
| 7 | g.117592031G>T | CA368978508 | CFTR | c.1864G>T (p.Gly622Cys) c.*1578G>T (n.*1578G>T) c.1681G>T (p.Gly561Cys) c.*164G>T (n.*164G>T) c.*1688G>T (n.*1688G>T) c.1438G>T (p.Gly480Cys) c.1402-10795G>T (n.1402-10795G>T) c.1774G>T (p.Gly592Cys) c.1954G>T (p.Gly652Cys) c.1621G>T (p.Gly541Cys) | |
| 7 | g.117592032G>A | CA326704 | CFTR | c.1865G>A (p.Gly622Asp) c.*1579G>A (n.*1579G>A) c.1682G>A (p.Gly561Asp) c.*165G>A (n.*165G>A) c.*1689G>A (n.*1689G>A) c.1439G>A (p.Gly480Asp) c.1402-10794G>A (n.1402-10794G>A) c.1775G>A (p.Gly592Asp) c.1955G>A (p.Gly652Asp) c.1622G>A (p.Gly541Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592032G>C | CA368978514 | CFTR | c.1865G>C (p.Gly622Ala) c.*1579G>C (n.*1579G>C) c.1682G>C (p.Gly561Ala) c.*165G>C (n.*165G>C) c.*1689G>C (n.*1689G>C) c.1439G>C (p.Gly480Ala) c.1402-10794G>C (n.1402-10794G>C) c.1775G>C (p.Gly592Ala) c.1955G>C (p.Gly652Ala) c.1622G>C (p.Gly541Ala) | |
| 7 | g.117592032G= | CA1737394048 | CFTR | c.1865G= (p.Gly622=) c.*1579G= (n.*1579G=) c.1682G= (p.Gly561=) c.*165G= (n.*165G=) c.*1689G= (n.*1689G=) c.1439G= (p.Gly480=) c.1402-10794G= (n.1402-10794G=) c.1775G= (p.Gly592=) c.1955G= (p.Gly652=) c.1622G= (p.Gly541=) | |
| 7 | g.117592032G>T | CA368978513 | CFTR | c.1865G>T (p.Gly622Val) c.*1579G>T (n.*1579G>T) c.1682G>T (p.Gly561Val) c.*165G>T (n.*165G>T) c.*1689G>T (n.*1689G>T) c.1439G>T (p.Gly480Val) c.1402-10794G>T (n.1402-10794G>T) c.1775G>T (p.Gly592Val) c.1955G>T (p.Gly652Val) c.1622G>T (p.Gly541Val) | |
| 7 | g.117592033T>A | CA457448857 | CFTR | c.1866T>A (p.Gly622=) c.*1580T>A (n.*1580T>A) c.1683T>A (p.Gly561=) c.*166T>A (n.*166T>A) c.*1690T>A (n.*1690T>A) c.1440T>A (p.Gly480=) c.1402-10793T>A (n.1402-10793T>A) c.1776T>A (p.Gly592=) c.1956T>A (p.Gly652=) c.1623T>A (p.Gly541=) | |
| 7 | g.117592033T>C | CA457448859 | CFTR | c.1866T>C (p.Gly622=) c.*1580T>C (n.*1580T>C) c.1683T>C (p.Gly561=) c.*166T>C (n.*166T>C) c.*1690T>C (n.*1690T>C) c.1440T>C (p.Gly480=) c.1402-10793T>C (n.1402-10793T>C) c.1776T>C (p.Gly592=) c.1956T>C (p.Gly652=) c.1623T>C (p.Gly541=) | gnomAD v4 |
| 7 | g.117592033T>G | CA457448858 | CFTR | c.1866T>G (p.Gly622=) c.*1580T>G (n.*1580T>G) c.1683T>G (p.Gly561=) c.*166T>G (n.*166T>G) c.*1690T>G (n.*1690T>G) c.1440T>G (p.Gly480=) c.1402-10793T>G (n.1402-10793T>G) c.1776T>G (p.Gly592=) c.1956T>G (p.Gly652=) c.1623T>G (p.Gly541=) | |
| 7 | g.117592034A>C | CA368978518 | CFTR | c.1867A>C (p.Ser623Arg) c.*1581A>C (n.*1581A>C) c.1684A>C (p.Ser562Arg) c.*167A>C (n.*167A>C) c.*1691A>C (n.*1691A>C) c.1441A>C (p.Ser481Arg) c.1402-10792A>C (n.1402-10792A>C) c.1777A>C (p.Ser593Arg) c.1957A>C (p.Ser653Arg) c.1624A>C (p.Ser542Arg) | |
| 7 | g.117592034A>G | CA368978520 | CFTR | c.1867A>G (p.Ser623Gly) c.*1581A>G (n.*1581A>G) c.1684A>G (p.Ser562Gly) c.*167A>G (n.*167A>G) c.*1691A>G (n.*1691A>G) c.1441A>G (p.Ser481Gly) c.1402-10792A>G (n.1402-10792A>G) c.1777A>G (p.Ser593Gly) c.1957A>G (p.Ser653Gly) c.1624A>G (p.Ser542Gly) | |
| 7 | g.117592034A>T | CA368978523 | CFTR | c.1867A>T (p.Ser623Cys) c.*1581A>T (n.*1581A>T) c.1684A>T (p.Ser562Cys) c.*167A>T (n.*167A>T) c.*1691A>T (n.*1691A>T) c.1441A>T (p.Ser481Cys) c.1402-10792A>T (n.1402-10792A>T) c.1777A>T (p.Ser593Cys) c.1957A>T (p.Ser653Cys) c.1624A>T (p.Ser542Cys) | |
| 7 | g.117592034dup | CA2580076503 | CFTR | c.1867dup (p.Ser623LysfsTer19) c.*1581dup (n.*1581dup) c.1684dup (p.Ser562LysfsTer19) c.*167dup (n.*167dup) c.*1691dup (n.*1691dup) c.1441dup (p.Ser481LysfsTer19) c.1402-10792dup (n.1402-10792dup) c.1777dup (p.Ser593LysfsTer19) c.1957dup (p.Ser653LysfsTer19) c.1624dup (p.Ser542LysfsTer19) | ClinVar |
| 7 | g.117592034_117592036delinsG | CA2580076502 | CFTR | c.1867_1869delinsG (p.Ser623GlufsTer18) c.*1581_*1583delinsG (n.*1581_*1583delinsG) c.1684_1686delinsG (p.Ser562GlufsTer18) c.*167_*169delinsG (n.*167_*169delinsG) c.*1691_*1693delinsG (n.*1691_*1693delinsG) c.1441_1443delinsG (p.Ser481GlufsTer18) c.1402-10792_1402-10790delinsG (n.1402-10792_1402-10790delinsG) c.1777_1779delinsG (p.Ser593GlufsTer18) c.1957_1959delinsG (p.Ser653GlufsTer18) c.1624_1626delinsG (p.Ser542GlufsTer18) | ClinVar |
| 7 | g.117592035G>A | CA368978526 | CFTR | c.1868G>A (p.Ser623Asn) c.*1582G>A (n.*1582G>A) c.1685G>A (p.Ser562Asn) c.*168G>A (n.*168G>A) c.*1692G>A (n.*1692G>A) c.1442G>A (p.Ser481Asn) c.1402-10791G>A (n.1402-10791G>A) c.1778G>A (p.Ser593Asn) c.1958G>A (p.Ser653Asn) c.1625G>A (p.Ser542Asn) | |
| 7 | g.117592035G>C | CA368978528 | CFTR | c.1868G>C (p.Ser623Thr) c.*1582G>C (n.*1582G>C) c.1685G>C (p.Ser562Thr) c.*168G>C (n.*168G>C) c.*1692G>C (n.*1692G>C) c.1442G>C (p.Ser481Thr) c.1402-10791G>C (n.1402-10791G>C) c.1778G>C (p.Ser593Thr) c.1958G>C (p.Ser653Thr) c.1625G>C (p.Ser542Thr) | |
| 7 | g.117592035G>T | CA368978529 | CFTR | c.1868G>T (p.Ser623Ile) c.*1582G>T (n.*1582G>T) c.1685G>T (p.Ser562Ile) c.*168G>T (n.*168G>T) c.*1692G>T (n.*1692G>T) c.1442G>T (p.Ser481Ile) c.1402-10791G>T (n.1402-10791G>T) c.1778G>T (p.Ser593Ile) c.1958G>T (p.Ser653Ile) c.1625G>T (p.Ser542Ile) | |
| 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 |