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.117592123A>C | CA368978991 | CFTR | c.1956A>C (p.Gln652His) c.*1670A>C (n.*1670A>C) c.1773A>C (p.Gln591His) c.*256A>C (n.*256A>C) c.*1780A>C (n.*1780A>C) c.1530A>C (p.Gln510His) c.1402-10703A>C (n.1402-10703A>C) c.1866A>C (p.Gln622His) c.2046A>C (p.Gln682His) c.1713A>C (p.Gln571His) | |
| 7 | g.117592123A>G | CA457448904 | CFTR | c.1956A>G (p.Gln652=) c.*1670A>G (n.*1670A>G) c.1773A>G (p.Gln591=) c.*256A>G (n.*256A>G) c.*1780A>G (n.*1780A>G) c.1530A>G (p.Gln510=) c.1402-10703A>G (n.1402-10703A>G) c.1866A>G (p.Gln622=) c.2046A>G (p.Gln682=) c.1713A>G (p.Gln571=) | |
| 7 | g.117592123A>T | CA368978993 | CFTR | c.1956A>T (p.Gln652His) c.*1670A>T (n.*1670A>T) c.1773A>T (p.Gln591His) c.*256A>T (n.*256A>T) c.*1780A>T (n.*1780A>T) c.1530A>T (p.Gln510His) c.1402-10703A>T (n.1402-10703A>T) c.1866A>T (p.Gln622His) c.2046A>T (p.Gln682His) c.1713A>T (p.Gln571His) | |
| 7 | g.117592124T>A | CA368978994 | CFTR | c.1957T>A (p.Phe653Ile) c.*1671T>A (n.*1671T>A) c.1774T>A (p.Phe592Ile) c.*257T>A (n.*257T>A) c.*1781T>A (n.*1781T>A) c.1531T>A (p.Phe511Ile) c.1402-10702T>A (n.1402-10702T>A) c.1867T>A (p.Phe623Ile) c.2047T>A (p.Phe683Ile) c.1714T>A (p.Phe572Ile) | |
| 7 | g.117592124T>C | CA368978996 | CFTR | c.1957T>C (p.Phe653Leu) c.*1671T>C (n.*1671T>C) c.1774T>C (p.Phe592Leu) c.*257T>C (n.*257T>C) c.*1781T>C (n.*1781T>C) c.1531T>C (p.Phe511Leu) c.1402-10702T>C (n.1402-10702T>C) c.1867T>C (p.Phe623Leu) c.2047T>C (p.Phe683Leu) c.1714T>C (p.Phe572Leu) | |
| 7 | g.117592124T>G | CA368978998 | CFTR | c.1957T>G (p.Phe653Val) c.*1671T>G (n.*1671T>G) c.1774T>G (p.Phe592Val) c.*257T>G (n.*257T>G) c.*1781T>G (n.*1781T>G) c.1531T>G (p.Phe511Val) c.1402-10702T>G (n.1402-10702T>G) c.1867T>G (p.Phe623Val) c.2047T>G (p.Phe683Val) c.1714T>G (p.Phe572Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592124T= | CA1737394313 | CFTR | c.1957T= (p.Phe653=) c.*1671T= (n.*1671T=) c.1774T= (p.Phe592=) c.*257T= (n.*257T=) c.*1781T= (n.*1781T=) c.1531T= (p.Phe511=) c.1402-10702T= (n.1402-10702T=) c.1867T= (p.Phe623=) c.2047T= (p.Phe683=) c.1714T= (p.Phe572=) | |
| 7 | g.117592125T>A | CA368979002 | CFTR | c.1958T>A (p.Phe653Tyr) c.*1672T>A (n.*1672T>A) c.1775T>A (p.Phe592Tyr) c.*258T>A (n.*258T>A) c.*1782T>A (n.*1782T>A) c.1532T>A (p.Phe511Tyr) c.1402-10701T>A (n.1402-10701T>A) c.1868T>A (p.Phe623Tyr) c.2048T>A (p.Phe683Tyr) c.1715T>A (p.Phe572Tyr) | |
| 7 | g.117592125T>C | CA368979004 | CFTR | c.1958T>C (p.Phe653Ser) c.*1672T>C (n.*1672T>C) c.1775T>C (p.Phe592Ser) c.*258T>C (n.*258T>C) c.*1782T>C (n.*1782T>C) c.1532T>C (p.Phe511Ser) c.1402-10701T>C (n.1402-10701T>C) c.1868T>C (p.Phe623Ser) c.2048T>C (p.Phe683Ser) c.1715T>C (p.Phe572Ser) | |
| 7 | g.117592125T>G | CA368979005 | CFTR | c.1958T>G (p.Phe653Cys) c.*1672T>G (n.*1672T>G) c.1775T>G (p.Phe592Cys) c.*258T>G (n.*258T>G) c.*1782T>G (n.*1782T>G) c.1532T>G (p.Phe511Cys) c.1402-10701T>G (n.1402-10701T>G) c.1868T>G (p.Phe623Cys) c.2048T>G (p.Phe683Cys) c.1715T>G (p.Phe572Cys) | |
| 7 | g.117592126T>A | CA368979006 | CFTR | c.1959T>A (p.Phe653Leu) c.*1673T>A (n.*1673T>A) c.1776T>A (p.Phe592Leu) c.*259T>A (n.*259T>A) c.*1783T>A (n.*1783T>A) c.1533T>A (p.Phe511Leu) c.1402-10700T>A (n.1402-10700T>A) c.1869T>A (p.Phe623Leu) c.2049T>A (p.Phe683Leu) c.1716T>A (p.Phe572Leu) | |
| 7 | g.117592126T>C | CA457448905 | CFTR | c.1959T>C (p.Phe653=) c.*1673T>C (n.*1673T>C) c.1776T>C (p.Phe592=) c.*259T>C (n.*259T>C) c.*1783T>C (n.*1783T>C) c.1533T>C (p.Phe511=) c.1402-10700T>C (n.1402-10700T>C) c.1869T>C (p.Phe623=) c.2049T>C (p.Phe683=) c.1716T>C (p.Phe572=) | |
| 7 | g.117592126T>G | CA368979007 | CFTR | c.1959T>G (p.Phe653Leu) c.*1673T>G (n.*1673T>G) c.1776T>G (p.Phe592Leu) c.*259T>G (n.*259T>G) c.*1783T>G (n.*1783T>G) c.1533T>G (p.Phe511Leu) c.1402-10700T>G (n.1402-10700T>G) c.1869T>G (p.Phe623Leu) c.2049T>G (p.Phe683Leu) c.1716T>G (p.Phe572Leu) | |
| 7 | g.117592127A= | CA1737394315 | CFTR | c.1960A= (p.Ser654=) c.*1674A= (n.*1674A=) c.1777A= (p.Ser593=) c.*260A= (n.*260A=) c.*1784A= (n.*1784A=) c.1534A= (p.Ser512=) c.1402-10699A= (n.1402-10699A=) c.1870A= (p.Ser624=) c.2050A= (p.Ser684=) c.1717A= (p.Ser573=) | |
| 7 | g.117592127A>C | CA368979008 | CFTR | c.1960A>C (p.Ser654Arg) c.*1674A>C (n.*1674A>C) c.1777A>C (p.Ser593Arg) c.*260A>C (n.*260A>C) c.*1784A>C (n.*1784A>C) c.1534A>C (p.Ser512Arg) c.1402-10699A>C (n.1402-10699A>C) c.1870A>C (p.Ser624Arg) c.2050A>C (p.Ser684Arg) c.1717A>C (p.Ser573Arg) | |
| 7 | g.117592127A>G | CA164947637 | CFTR | c.1960A>G (p.Ser654Gly) c.*1674A>G (n.*1674A>G) c.1777A>G (p.Ser593Gly) c.*260A>G (n.*260A>G) c.*1784A>G (n.*1784A>G) c.1534A>G (p.Ser512Gly) c.1402-10699A>G (n.1402-10699A>G) c.1870A>G (p.Ser624Gly) c.2050A>G (p.Ser684Gly) c.1717A>G (p.Ser573Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592127A>T | CA368979009 | CFTR | c.1960A>T (p.Ser654Cys) c.*1674A>T (n.*1674A>T) c.1777A>T (p.Ser593Cys) c.*260A>T (n.*260A>T) c.*1784A>T (n.*1784A>T) c.1534A>T (p.Ser512Cys) c.1402-10699A>T (n.1402-10699A>T) c.1870A>T (p.Ser624Cys) c.2050A>T (p.Ser684Cys) c.1717A>T (p.Ser573Cys) | ClinVar dbSNP |
| 7 | g.117592128G>A | CA368979010 | CFTR | c.1961G>A (p.Ser654Asn) c.*1675G>A (n.*1675G>A) c.1778G>A (p.Ser593Asn) c.*261G>A (n.*261G>A) c.*1785G>A (n.*1785G>A) c.1535G>A (p.Ser512Asn) c.1402-10698G>A (n.1402-10698G>A) c.1871G>A (p.Ser624Asn) c.2051G>A (p.Ser684Asn) c.1718G>A (p.Ser573Asn) | |
| 7 | g.117592128G>C | CA368979013 | CFTR | c.1961G>C (p.Ser654Thr) c.*1675G>C (n.*1675G>C) c.1778G>C (p.Ser593Thr) c.*261G>C (n.*261G>C) c.*1785G>C (n.*1785G>C) c.1535G>C (p.Ser512Thr) c.1402-10698G>C (n.1402-10698G>C) c.1871G>C (p.Ser624Thr) c.2051G>C (p.Ser684Thr) c.1718G>C (p.Ser573Thr) | |
| 7 | g.117592128G>T | CA368979011 | CFTR | c.1961G>T (p.Ser654Ile) c.*1675G>T (n.*1675G>T) c.1778G>T (p.Ser593Ile) c.*261G>T (n.*261G>T) c.*1785G>T (n.*1785G>T) c.1535G>T (p.Ser512Ile) c.1402-10698G>T (n.1402-10698G>T) c.1871G>T (p.Ser624Ile) c.2051G>T (p.Ser684Ile) c.1718G>T (p.Ser573Ile) | |
| 7 | g.117592129T>A | CA368979017 | CFTR | c.1962T>A (p.Ser654Arg) c.*1676T>A (n.*1676T>A) c.1779T>A (p.Ser593Arg) c.*262T>A (n.*262T>A) c.*1786T>A (n.*1786T>A) c.1536T>A (p.Ser512Arg) c.1402-10697T>A (n.1402-10697T>A) c.1872T>A (p.Ser624Arg) c.2052T>A (p.Ser684Arg) c.1719T>A (p.Ser573Arg) | |
| 7 | g.117592129T>C | CA457448906 | CFTR | c.1962T>C (p.Ser654=) c.*1676T>C (n.*1676T>C) c.1779T>C (p.Ser593=) c.*262T>C (n.*262T>C) c.*1786T>C (n.*1786T>C) c.1536T>C (p.Ser512=) c.1402-10697T>C (n.1402-10697T>C) c.1872T>C (p.Ser624=) c.2052T>C (p.Ser684=) c.1719T>C (p.Ser573=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592129T>G | CA368979019 | CFTR | c.1962T>G (p.Ser654Arg) c.*1676T>G (n.*1676T>G) c.1779T>G (p.Ser593Arg) c.*262T>G (n.*262T>G) c.*1786T>G (n.*1786T>G) c.1536T>G (p.Ser512Arg) c.1402-10697T>G (n.1402-10697T>G) c.1872T>G (p.Ser624Arg) c.2052T>G (p.Ser684Arg) c.1719T>G (p.Ser573Arg) | ClinVar dbSNP |
| 7 | g.117592129T= | CA1737394320 | CFTR | c.1962T= (p.Ser654=) c.*1676T= (n.*1676T=) c.1779T= (p.Ser593=) c.*262T= (n.*262T=) c.*1786T= (n.*1786T=) c.1536T= (p.Ser512=) c.1402-10697T= (n.1402-10697T=) c.1872T= (p.Ser624=) c.2052T= (p.Ser684=) c.1719T= (p.Ser573=) | |
| 7 | g.117592130G>A | CA368979021 | CFTR | c.1963G>A (p.Ala655Thr) c.*1677G>A (n.*1677G>A) c.1780G>A (p.Ala594Thr) c.*263G>A (n.*263G>A) c.*1787G>A (n.*1787G>A) c.1537G>A (p.Ala513Thr) c.1402-10696G>A (n.1402-10696G>A) c.1873G>A (p.Ala625Thr) c.2053G>A (p.Ala685Thr) c.1720G>A (p.Ala574Thr) | dbSNP COSMIC |
| 7 | g.117592130G>C | CA368979022 | CFTR | c.1963G>C (p.Ala655Pro) c.*1677G>C (n.*1677G>C) c.1780G>C (p.Ala594Pro) c.*263G>C (n.*263G>C) c.*1787G>C (n.*1787G>C) c.1537G>C (p.Ala513Pro) c.1402-10696G>C (n.1402-10696G>C) c.1873G>C (p.Ala625Pro) c.2053G>C (p.Ala685Pro) c.1720G>C (p.Ala574Pro) | |
| 7 | g.117592130G>T | CA368979023 | CFTR | c.1963G>T (p.Ala655Ser) c.*1677G>T (n.*1677G>T) c.1780G>T (p.Ala594Ser) c.*263G>T (n.*263G>T) c.*1787G>T (n.*1787G>T) c.1537G>T (p.Ala513Ser) c.1402-10696G>T (n.1402-10696G>T) c.1873G>T (p.Ala625Ser) c.2053G>T (p.Ala685Ser) c.1720G>T (p.Ala574Ser) | |
| 7 | g.117592131C>A | CA368979026 | CFTR | c.1964C>A (p.Ala655Glu) c.*1678C>A (n.*1678C>A) c.1781C>A (p.Ala594Glu) c.*264C>A (n.*264C>A) c.*1788C>A (n.*1788C>A) c.1538C>A (p.Ala513Glu) c.1402-10695C>A (n.1402-10695C>A) c.1874C>A (p.Ala625Glu) c.2054C>A (p.Ala685Glu) c.1721C>A (p.Ala574Glu) | |
| 7 | g.117592131C>G | CA368979028 | CFTR | c.1964C>G (p.Ala655Gly) c.*1678C>G (n.*1678C>G) c.1781C>G (p.Ala594Gly) c.*264C>G (n.*264C>G) c.*1788C>G (n.*1788C>G) c.1538C>G (p.Ala513Gly) c.1402-10695C>G (n.1402-10695C>G) c.1874C>G (p.Ala625Gly) c.2054C>G (p.Ala685Gly) c.1721C>G (p.Ala574Gly) | |
| 7 | g.117592131C>T | CA368979031 | CFTR | c.1964C>T (p.Ala655Val) c.*1678C>T (n.*1678C>T) c.1781C>T (p.Ala594Val) c.*264C>T (n.*264C>T) c.*1788C>T (n.*1788C>T) c.1538C>T (p.Ala513Val) c.1402-10695C>T (n.1402-10695C>T) c.1874C>T (p.Ala625Val) c.2054C>T (p.Ala685Val) c.1721C>T (p.Ala574Val) | ClinVar gnomAD v4 |
| 7 | g.117592132A>C | CA457448909 | CFTR | c.1965A>C (p.Ala655=) c.*1679A>C (n.*1679A>C) c.1782A>C (p.Ala594=) c.*265A>C (n.*265A>C) c.*1789A>C (n.*1789A>C) c.1539A>C (p.Ala513=) c.1402-10694A>C (n.1402-10694A>C) c.1875A>C (p.Ala625=) c.2055A>C (p.Ala685=) c.1722A>C (p.Ala574=) | |
| 7 | g.117592132A>G | CA457448907 | CFTR | c.1965A>G (p.Ala655=) c.*1679A>G (n.*1679A>G) c.1782A>G (p.Ala594=) c.*265A>G (n.*265A>G) c.*1789A>G (n.*1789A>G) c.1539A>G (p.Ala513=) c.1402-10694A>G (n.1402-10694A>G) c.1875A>G (p.Ala625=) c.2055A>G (p.Ala685=) c.1722A>G (p.Ala574=) | |
| 7 | g.117592132A>T | CA457448908 | CFTR | c.1965A>T (p.Ala655=) c.*1679A>T (n.*1679A>T) c.1782A>T (p.Ala594=) c.*265A>T (n.*265A>T) c.*1789A>T (n.*1789A>T) c.1539A>T (p.Ala513=) c.1402-10694A>T (n.1402-10694A>T) c.1875A>T (p.Ala625=) c.2055A>T (p.Ala685=) c.1722A>T (p.Ala574=) | |
| 7 | g.117592133G>A | CA368979033 | CFTR | c.1966G>A (p.Glu656Lys) c.*1680G>A (n.*1680G>A) c.1783G>A (p.Glu595Lys) c.*266G>A (n.*266G>A) c.*1790G>A (n.*1790G>A) c.1540G>A (p.Glu514Lys) c.1402-10693G>A (n.1402-10693G>A) c.1876G>A (p.Glu626Lys) c.2056G>A (p.Glu686Lys) c.1723G>A (p.Glu575Lys) | |
| 7 | g.117592133G>C | CA368979035 | CFTR | c.1966G>C (p.Glu656Gln) c.*1680G>C (n.*1680G>C) c.1783G>C (p.Glu595Gln) c.*266G>C (n.*266G>C) c.*1790G>C (n.*1790G>C) c.1540G>C (p.Glu514Gln) c.1402-10693G>C (n.1402-10693G>C) c.1876G>C (p.Glu626Gln) c.2056G>C (p.Glu686Gln) c.1723G>C (p.Glu575Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592133G= | CA1737394326 | CFTR | c.1966G= (p.Glu656=) c.*1680G= (n.*1680G=) c.1783G= (p.Glu595=) c.*266G= (n.*266G=) c.*1790G= (n.*1790G=) c.1540G= (p.Glu514=) c.1402-10693G= (n.1402-10693G=) c.1876G= (p.Glu626=) c.2056G= (p.Glu686=) c.1723G= (p.Glu575=) | |
| 7 | g.117592133G>T | CA326719 | CFTR | c.1966G>T (p.Glu656Ter) c.*1680G>T (n.*1680G>T) c.1783G>T (p.Glu595Ter) c.*266G>T (n.*266G>T) c.*1790G>T (n.*1790G>T) c.1540G>T (p.Glu514Ter) c.1402-10693G>T (n.1402-10693G>T) c.1876G>T (p.Glu626Ter) c.2056G>T (p.Glu686Ter) c.1723G>T (p.Glu575Ter) | ClinVar dbSNP |
| 7 | g.117592134A= | CA1737394333 | CFTR | c.1967A= (p.Glu656=) c.*1681A= (n.*1681A=) c.1784A= (p.Glu595=) c.*267A= (n.*267A=) c.*1791A= (n.*1791A=) c.1541A= (p.Glu514=) c.1402-10692A= (n.1402-10692A=) c.1877A= (p.Glu626=) c.2057A= (p.Glu686=) c.1724A= (p.Glu575=) | |
| 7 | g.117592134A>C | CA368979042 | CFTR | c.1967A>C (p.Glu656Ala) c.*1681A>C (n.*1681A>C) c.1784A>C (p.Glu595Ala) c.*267A>C (n.*267A>C) c.*1791A>C (n.*1791A>C) c.1541A>C (p.Glu514Ala) c.1402-10692A>C (n.1402-10692A>C) c.1877A>C (p.Glu626Ala) c.2057A>C (p.Glu686Ala) c.1724A>C (p.Glu575Ala) | |
| 7 | g.117592134A>G | CA368979040 | CFTR | c.1967A>G (p.Glu656Gly) c.*1681A>G (n.*1681A>G) c.1784A>G (p.Glu595Gly) c.*267A>G (n.*267A>G) c.*1791A>G (n.*1791A>G) c.1541A>G (p.Glu514Gly) c.1402-10692A>G (n.1402-10692A>G) c.1877A>G (p.Glu626Gly) c.2057A>G (p.Glu686Gly) c.1724A>G (p.Glu575Gly) | ClinVar dbSNP |
| 7 | g.117592134A>T | CA368979038 | CFTR | c.1967A>T (p.Glu656Val) c.*1681A>T (n.*1681A>T) c.1784A>T (p.Glu595Val) c.*267A>T (n.*267A>T) c.*1791A>T (n.*1791A>T) c.1541A>T (p.Glu514Val) c.1402-10692A>T (n.1402-10692A>T) c.1877A>T (p.Glu626Val) c.2057A>T (p.Glu686Val) c.1724A>T (p.Glu575Val) | |
| 7 | g.117592135A>C | CA368979045 | CFTR | c.1968A>C (p.Glu656Asp) c.*1682A>C (n.*1682A>C) c.1785A>C (p.Glu595Asp) c.*268A>C (n.*268A>C) c.*1792A>C (n.*1792A>C) c.1542A>C (p.Glu514Asp) c.1402-10691A>C (n.1402-10691A>C) c.1878A>C (p.Glu626Asp) c.2058A>C (p.Glu686Asp) c.1725A>C (p.Glu575Asp) | |
| 7 | g.117592135A>G | CA457448910 | CFTR | c.1968A>G (p.Glu656=) c.*1682A>G (n.*1682A>G) c.1785A>G (p.Glu595=) c.*268A>G (n.*268A>G) c.*1792A>G (n.*1792A>G) c.1542A>G (p.Glu514=) c.1402-10691A>G (n.1402-10691A>G) c.1878A>G (p.Glu626=) c.2058A>G (p.Glu686=) c.1725A>G (p.Glu575=) | |
| 7 | g.117592135A>T | CA368979047 | CFTR | c.1968A>T (p.Glu656Asp) c.*1682A>T (n.*1682A>T) c.1785A>T (p.Glu595Asp) c.*268A>T (n.*268A>T) c.*1792A>T (n.*1792A>T) c.1542A>T (p.Glu514Asp) c.1402-10691A>T (n.1402-10691A>T) c.1878A>T (p.Glu626Asp) c.2058A>T (p.Glu686Asp) c.1725A>T (p.Glu575Asp) | |
| 7 | g.117592136A= | CA1737394336 | CFTR | c.1969A= (p.Arg657=) c.*1683A= (n.*1683A=) c.1786A= (p.Arg596=) c.*269A= (n.*269A=) c.*1793A= (n.*1793A=) c.1543A= (p.Arg515=) c.1402-10690A= (n.1402-10690A=) c.1879A= (p.Arg627=) c.2059A= (p.Arg687=) c.1726A= (p.Arg576=) | |
| 7 | g.117592136A>C | CA457448911 | CFTR | c.1969A>C (p.Arg657=) c.*1683A>C (n.*1683A>C) c.1786A>C (p.Arg596=) c.*269A>C (n.*269A>C) c.*1793A>C (n.*1793A>C) c.1543A>C (p.Arg515=) c.1402-10690A>C (n.1402-10690A>C) c.1879A>C (p.Arg627=) c.2059A>C (p.Arg687=) c.1726A>C (p.Arg576=) | |
| 7 | g.117592136A>G | CA368979050 | CFTR | c.1969A>G (p.Arg657Gly) c.*1683A>G (n.*1683A>G) c.1786A>G (p.Arg596Gly) c.*269A>G (n.*269A>G) c.*1793A>G (n.*1793A>G) c.1543A>G (p.Arg515Gly) c.1402-10690A>G (n.1402-10690A>G) c.1879A>G (p.Arg627Gly) c.2059A>G (p.Arg687Gly) c.1726A>G (p.Arg576Gly) | gnomAD v4 |
| 7 | g.117592136A>T | CA368979052 | CFTR | c.1969A>T (p.Arg657Ter) c.*1683A>T (n.*1683A>T) c.1786A>T (p.Arg596Ter) c.*269A>T (n.*269A>T) c.*1793A>T (n.*1793A>T) c.1543A>T (p.Arg515Ter) c.1402-10690A>T (n.1402-10690A>T) c.1879A>T (p.Arg627Ter) c.2059A>T (p.Arg687Ter) c.1726A>T (p.Arg576Ter) | ClinVar dbSNP |
| 7 | g.117592137del | CA457448912 | CFTR | c.1970del (p.Arg657LysfsTer6) c.*1684del (n.*1684del) c.1787del (p.Arg596LysfsTer6) c.*270del (n.*270del) c.*1794del (n.*1794del) c.1544del (p.Arg515LysfsTer6) c.1402-10689del (n.1402-10689del) c.1880del (p.Arg627LysfsTer6) c.2060del (p.Arg687LysfsTer6) c.1727del (p.Arg576LysfsTer6) | ClinVar dbSNP |