WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.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 |