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.117592162C>A | CA457448946 | CFTR | c.1995C>A (p.Thr665=) c.*1709C>A (n.*1709C>A) c.1812C>A (p.Thr604=) c.*295C>A (n.*295C>A) c.*1819C>A (n.*1819C>A) c.1569C>A (p.Thr523=) c.1402-10664C>A (n.1402-10664C>A) c.1905C>A (p.Thr635=) c.2085C>A (p.Thr695=) c.1752C>A (p.Thr584=) | ClinVar |
| 7 | g.117592162C= | CA1737394420 | CFTR | c.1995C= (p.Thr665=) c.*1709C= (n.*1709C=) c.1812C= (p.Thr604=) c.*295C= (n.*295C=) c.*1819C= (n.*1819C=) c.1569C= (p.Thr523=) c.1402-10664C= (n.1402-10664C=) c.1905C= (p.Thr635=) c.2085C= (p.Thr695=) c.1752C= (p.Thr584=) | |
| 7 | g.117592162C>G | CA457448947 | CFTR | c.1995C>G (p.Thr665=) c.*1709C>G (n.*1709C>G) c.1812C>G (p.Thr604=) c.*295C>G (n.*295C>G) c.*1819C>G (n.*1819C>G) c.1569C>G (p.Thr523=) c.1402-10664C>G (n.1402-10664C>G) c.1905C>G (p.Thr635=) c.2085C>G (p.Thr695=) c.1752C>G (p.Thr584=) | dbSNP |
| 7 | g.117592162C>T | CA457448948 | CFTR | c.1995C>T (p.Thr665=) c.*1709C>T (n.*1709C>T) c.1812C>T (p.Thr604=) c.*295C>T (n.*295C>T) c.*1819C>T (n.*1819C>T) c.1569C>T (p.Thr523=) c.1402-10664C>T (n.1402-10664C>T) c.1905C>T (p.Thr635=) c.2085C>T (p.Thr695=) c.1752C>T (p.Thr584=) | |
| 7 | g.117592163T>A | CA368979160 | CFTR | c.1996T>A (p.Leu666Ile) c.*1710T>A (n.*1710T>A) c.1813T>A (p.Leu605Ile) c.*296T>A (n.*296T>A) c.*1820T>A (n.*1820T>A) c.1570T>A (p.Leu524Ile) c.1402-10663T>A (n.1402-10663T>A) c.1906T>A (p.Leu636Ile) c.2086T>A (p.Leu696Ile) c.1753T>A (p.Leu585Ile) | |
| 7 | g.117592163T>C | CA457448949 | CFTR | c.1996T>C (p.Leu666=) c.*1710T>C (n.*1710T>C) c.1813T>C (p.Leu605=) c.*296T>C (n.*296T>C) c.*1820T>C (n.*1820T>C) c.1570T>C (p.Leu524=) c.1402-10663T>C (n.1402-10663T>C) c.1906T>C (p.Leu636=) c.2086T>C (p.Leu696=) c.1753T>C (p.Leu585=) | |
| 7 | g.117592163T>G | CA368979161 | CFTR | c.1996T>G (p.Leu666Val) c.*1710T>G (n.*1710T>G) c.1813T>G (p.Leu605Val) c.*296T>G (n.*296T>G) c.*1820T>G (n.*1820T>G) c.1570T>G (p.Leu524Val) c.1402-10663T>G (n.1402-10663T>G) c.1906T>G (p.Leu636Val) c.2086T>G (p.Leu696Val) c.1753T>G (p.Leu585Val) | |
| 7 | g.117592164T>A | CA368979162 | CFTR | c.1997T>A (p.Leu666Ter) c.*1711T>A (n.*1711T>A) c.1814T>A (p.Leu605Ter) c.*297T>A (n.*297T>A) c.*1821T>A (n.*1821T>A) c.1571T>A (p.Leu524Ter) c.1402-10662T>A (n.1402-10662T>A) c.1907T>A (p.Leu636Ter) c.2087T>A (p.Leu696Ter) c.1754T>A (p.Leu585Ter) | ClinVar dbSNP |
| 7 | g.117592164T>C | CA368979163 | CFTR | c.1997T>C (p.Leu666Ser) c.*1711T>C (n.*1711T>C) c.1814T>C (p.Leu605Ser) c.*297T>C (n.*297T>C) c.*1821T>C (n.*1821T>C) c.1571T>C (p.Leu524Ser) c.1402-10662T>C (n.1402-10662T>C) c.1907T>C (p.Leu636Ser) c.2087T>C (p.Leu696Ser) c.1754T>C (p.Leu585Ser) | |
| 7 | g.117592164T>G | CA368979164 | CFTR | c.1997T>G (p.Leu666Ter) c.*1711T>G (n.*1711T>G) c.1814T>G (p.Leu605Ter) c.*297T>G (n.*297T>G) c.*1821T>G (n.*1821T>G) c.1571T>G (p.Leu524Ter) c.1402-10662T>G (n.1402-10662T>G) c.1907T>G (p.Leu636Ter) c.2087T>G (p.Leu696Ter) c.1754T>G (p.Leu585Ter) | COSMIC |
| 7 | g.117592164T= | CA1737394424 | CFTR | c.1997T= (p.Leu666=) c.*1711T= (n.*1711T=) c.1814T= (p.Leu605=) c.*297T= (n.*297T=) c.*1821T= (n.*1821T=) c.1571T= (p.Leu524=) c.1402-10662T= (n.1402-10662T=) c.1907T= (p.Leu636=) c.2087T= (p.Leu696=) c.1754T= (p.Leu585=) | |
| 7 | g.117592165A>C | CA368979165 | CFTR | c.1998A>C (p.Leu666Phe) c.*1712A>C (n.*1712A>C) c.1815A>C (p.Leu605Phe) c.*298A>C (n.*298A>C) c.*1822A>C (n.*1822A>C) c.1572A>C (p.Leu524Phe) c.1402-10661A>C (n.1402-10661A>C) c.1908A>C (p.Leu636Phe) c.2088A>C (p.Leu696Phe) c.1755A>C (p.Leu585Phe) | |
| 7 | g.117592165A>G | CA457448951 | CFTR | c.1998A>G (p.Leu666=) c.*1712A>G (n.*1712A>G) c.1815A>G (p.Leu605=) c.*298A>G (n.*298A>G) c.*1822A>G (n.*1822A>G) c.1572A>G (p.Leu524=) c.1402-10661A>G (n.1402-10661A>G) c.1908A>G (p.Leu636=) c.2088A>G (p.Leu696=) c.1755A>G (p.Leu585=) | |
| 7 | g.117592165A>T | CA368979166 | CFTR | c.1998A>T (p.Leu666Phe) c.*1712A>T (n.*1712A>T) c.1815A>T (p.Leu605Phe) c.*298A>T (n.*298A>T) c.*1822A>T (n.*1822A>T) c.1572A>T (p.Leu524Phe) c.1402-10661A>T (n.1402-10661A>T) c.1908A>T (p.Leu636Phe) c.2088A>T (p.Leu696Phe) c.1755A>T (p.Leu585Phe) | |
| 7 | g.117592166C>A | CA368979169 | CFTR | c.1999C>A (p.His667Asn) c.*1713C>A (n.*1713C>A) c.1816C>A (p.His606Asn) c.*299C>A (n.*299C>A) c.*1823C>A (n.*1823C>A) c.1573C>A (p.His525Asn) c.1402-10660C>A (n.1402-10660C>A) c.1909C>A (p.His637Asn) c.2089C>A (p.His697Asn) c.1756C>A (p.His586Asn) | |
| 7 | g.117592166C= | CA1737394427 | CFTR | c.1999C= (p.His667=) c.*1713C= (n.*1713C=) c.1816C= (p.His606=) c.*299C= (n.*299C=) c.*1823C= (n.*1823C=) c.1573C= (p.His525=) c.1402-10660C= (n.1402-10660C=) c.1909C= (p.His637=) c.2089C= (p.His697=) c.1756C= (p.His586=) | |
| 7 | g.117592166C>G | CA368979168 | CFTR | c.1999C>G (p.His667Asp) c.*1713C>G (n.*1713C>G) c.1816C>G (p.His606Asp) c.*299C>G (n.*299C>G) c.*1823C>G (n.*1823C>G) c.1573C>G (p.His525Asp) c.1402-10660C>G (n.1402-10660C>G) c.1909C>G (p.His637Asp) c.2089C>G (p.His697Asp) c.1756C>G (p.His586Asp) | |
| 7 | g.117592166C>T | CA368979167 | CFTR | c.1999C>T (p.His667Tyr) c.*1713C>T (n.*1713C>T) c.1816C>T (p.His606Tyr) c.*299C>T (n.*299C>T) c.*1823C>T (n.*1823C>T) c.1573C>T (p.His525Tyr) c.1402-10660C>T (n.1402-10660C>T) c.1909C>T (p.His637Tyr) c.2089C>T (p.His697Tyr) c.1756C>T (p.His586Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592167A= | CA1737394432 | CFTR | c.2000A= (p.His667=) c.*1714A= (n.*1714A=) c.1817A= (p.His606=) c.*300A= (n.*300A=) c.*1824A= (n.*1824A=) c.1574A= (p.His525=) c.1402-10659A= (n.1402-10659A=) c.1910A= (p.His637=) c.2090A= (p.His697=) c.1757A= (p.His586=) | |
| 7 | g.117592167A>C | CA368979170 | CFTR | c.2000A>C (p.His667Pro) c.*1714A>C (n.*1714A>C) c.1817A>C (p.His606Pro) c.*300A>C (n.*300A>C) c.*1824A>C (n.*1824A>C) c.1574A>C (p.His525Pro) c.1402-10659A>C (n.1402-10659A>C) c.1910A>C (p.His637Pro) c.2090A>C (p.His697Pro) c.1757A>C (p.His586Pro) | |
| 7 | g.117592167A>G | CA368979171 | CFTR | c.2000A>G (p.His667Arg) c.*1714A>G (n.*1714A>G) c.1817A>G (p.His606Arg) c.*300A>G (n.*300A>G) c.*1824A>G (n.*1824A>G) c.1574A>G (p.His525Arg) c.1402-10659A>G (n.1402-10659A>G) c.1910A>G (p.His637Arg) c.2090A>G (p.His697Arg) c.1757A>G (p.His586Arg) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117592167A>T | CA368979172 | CFTR | c.2000A>T (p.His667Leu) c.*1714A>T (n.*1714A>T) c.1817A>T (p.His606Leu) c.*300A>T (n.*300A>T) c.*1824A>T (n.*1824A>T) c.1574A>T (p.His525Leu) c.1402-10659A>T (n.1402-10659A>T) c.1910A>T (p.His637Leu) c.2090A>T (p.His697Leu) c.1757A>T (p.His586Leu) | |
| 7 | g.117592168C>A | CA368979173 | CFTR | c.2001C>A (p.His667Gln) c.*1715C>A (n.*1715C>A) c.1818C>A (p.His606Gln) c.*301C>A (n.*301C>A) c.*1825C>A (n.*1825C>A) c.1575C>A (p.His525Gln) c.1402-10658C>A (n.1402-10658C>A) c.1911C>A (p.His637Gln) c.2091C>A (p.His697Gln) c.1758C>A (p.His586Gln) | |
| 7 | g.117592168C= | CA1737394435 | CFTR | c.2001C= (p.His667=) c.*1715C= (n.*1715C=) c.1818C= (p.His606=) c.*301C= (n.*301C=) c.*1825C= (n.*1825C=) c.1575C= (p.His525=) c.1402-10658C= (n.1402-10658C=) c.1911C= (p.His637=) c.2091C= (p.His697=) c.1758C= (p.His586=) | |
| 7 | g.117592168C>G | CA368979174 | CFTR | c.2001C>G (p.His667Gln) c.*1715C>G (n.*1715C>G) c.1818C>G (p.His606Gln) c.*301C>G (n.*301C>G) c.*1825C>G (n.*1825C>G) c.1575C>G (p.His525Gln) c.1402-10658C>G (n.1402-10658C>G) c.1911C>G (p.His637Gln) c.2091C>G (p.His697Gln) c.1758C>G (p.His586Gln) | |
| 7 | g.117592168C>T | CA4451124 | CFTR | c.2001C>T (p.His667=) c.*1715C>T (n.*1715C>T) c.1818C>T (p.His606=) c.*301C>T (n.*301C>T) c.*1825C>T (n.*1825C>T) c.1575C>T (p.His525=) c.1402-10658C>T (n.1402-10658C>T) c.1911C>T (p.His637=) c.2091C>T (p.His697=) c.1758C>T (p.His586=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592169C>A | CA368979176 | CFTR | c.2002C>A (p.Arg668Ser) c.*1716C>A (n.*1716C>A) c.1819C>A (p.Arg607Ser) c.*302C>A (n.*302C>A) c.*1826C>A (n.*1826C>A) c.1576C>A (p.Arg526Ser) c.1402-10657C>A (n.1402-10657C>A) c.1912C>A (p.Arg638Ser) c.2092C>A (p.Arg698Ser) c.1759C>A (p.Arg587Ser) | dbSNP |
| 7 | g.117592169C= | CA1737394439 | CFTR | c.2002C= (p.Arg668=) c.*1716C= (n.*1716C=) c.1819C= (p.Arg607=) c.*302C= (n.*302C=) c.*1826C= (n.*1826C=) c.1576C= (p.Arg526=) c.1402-10657C= (n.1402-10657C=) c.1912C= (p.Arg638=) c.2092C= (p.Arg698=) c.1759C= (p.Arg587=) | |
| 7 | g.117592169C>G | CA368979175 | CFTR | c.2002C>G (p.Arg668Gly) c.*1716C>G (n.*1716C>G) c.1819C>G (p.Arg607Gly) c.*302C>G (n.*302C>G) c.*1826C>G (n.*1826C>G) c.1576C>G (p.Arg526Gly) c.1402-10657C>G (n.1402-10657C>G) c.1912C>G (p.Arg638Gly) c.2092C>G (p.Arg698Gly) c.1759C>G (p.Arg587Gly) | |
| 7 | g.117592169C>T | CA182840 | CFTR | c.2002C>T (p.Arg668Cys) c.*1716C>T (n.*1716C>T) c.1819C>T (p.Arg607Cys) c.*302C>T (n.*302C>T) c.*1826C>T (n.*1826C>T) c.1576C>T (p.Arg526Cys) c.1402-10657C>T (n.1402-10657C>T) c.1912C>T (p.Arg638Cys) c.2092C>T (p.Arg698Cys) c.1759C>T (p.Arg587Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592170G>A | CA4451125 | CFTR | c.2003G>A (p.Arg668His) c.*1717G>A (n.*1717G>A) c.1820G>A (p.Arg607His) c.*303G>A (n.*303G>A) c.*1827G>A (n.*1827G>A) c.1577G>A (p.Arg526His) c.1402-10656G>A (n.1402-10656G>A) c.1913G>A (p.Arg638His) c.2093G>A (p.Arg698His) c.1760G>A (p.Arg587His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592170G>C | CA368979177 | CFTR | c.2003G>C (p.Arg668Pro) c.*1717G>C (n.*1717G>C) c.1820G>C (p.Arg607Pro) c.*303G>C (n.*303G>C) c.*1827G>C (n.*1827G>C) c.1577G>C (p.Arg526Pro) c.1402-10656G>C (n.1402-10656G>C) c.1913G>C (p.Arg638Pro) c.2093G>C (p.Arg698Pro) c.1760G>C (p.Arg587Pro) | |
| 7 | g.117592170G= | CA1737394444 | CFTR | c.2003G= (p.Arg668=) c.*1717G= (n.*1717G=) c.1820G= (p.Arg607=) c.*303G= (n.*303G=) c.*1827G= (n.*1827G=) c.1577G= (p.Arg526=) c.1402-10656G= (n.1402-10656G=) c.1913G= (p.Arg638=) c.2093G= (p.Arg698=) c.1760G= (p.Arg587=) | |
| 7 | g.117592170G>T | CA164947672 | CFTR | c.2003G>T (p.Arg668Leu) c.*1717G>T (n.*1717G>T) c.1820G>T (p.Arg607Leu) c.*303G>T (n.*303G>T) c.*1827G>T (n.*1827G>T) c.1577G>T (p.Arg526Leu) c.1402-10656G>T (n.1402-10656G>T) c.1913G>T (p.Arg638Leu) c.2093G>T (p.Arg698Leu) c.1760G>T (p.Arg587Leu) | dbSNP gnomAD v4 |
| 7 | g.117592171T>A | CA457448954 | CFTR | c.2004T>A (p.Arg668=) c.*1718T>A (n.*1718T>A) c.1821T>A (p.Arg607=) c.*304T>A (n.*304T>A) c.*1828T>A (n.*1828T>A) c.1578T>A (p.Arg526=) c.1402-10655T>A (n.1402-10655T>A) c.1914T>A (p.Arg638=) c.2094T>A (p.Arg698=) c.1761T>A (p.Arg587=) | |
| 7 | g.117592171T>C | CA457448955 | CFTR | c.2004T>C (p.Arg668=) c.*1718T>C (n.*1718T>C) c.1821T>C (p.Arg607=) c.*304T>C (n.*304T>C) c.*1828T>C (n.*1828T>C) c.1578T>C (p.Arg526=) c.1402-10655T>C (n.1402-10655T>C) c.1914T>C (p.Arg638=) c.2094T>C (p.Arg698=) c.1761T>C (p.Arg587=) | dbSNP |
| 7 | g.117592171T>G | CA457448956 | CFTR | c.2004T>G (p.Arg668=) c.*1718T>G (n.*1718T>G) c.1821T>G (p.Arg607=) c.*304T>G (n.*304T>G) c.*1828T>G (n.*1828T>G) c.1578T>G (p.Arg526=) c.1402-10655T>G (n.1402-10655T>G) c.1914T>G (p.Arg638=) c.2094T>G (p.Arg698=) c.1761T>G (p.Arg587=) | |
| 7 | g.117592171T= | CA1737394450 | CFTR | c.2004T= (p.Arg668=) c.*1718T= (n.*1718T=) c.1821T= (p.Arg607=) c.*304T= (n.*304T=) c.*1828T= (n.*1828T=) c.1578T= (p.Arg526=) c.1402-10655T= (n.1402-10655T=) c.1914T= (p.Arg638=) c.2094T= (p.Arg698=) c.1761T= (p.Arg587=) | |
| 7 | g.117592172T>A | CA368979178 | CFTR | c.2005T>A (p.Phe669Ile) c.*1719T>A (n.*1719T>A) c.1822T>A (p.Phe608Ile) c.*305T>A (n.*305T>A) c.*1829T>A (n.*1829T>A) c.1579T>A (p.Phe527Ile) c.1402-10654T>A (n.1402-10654T>A) c.1915T>A (p.Phe639Ile) c.2095T>A (p.Phe699Ile) c.1762T>A (p.Phe588Ile) | |
| 7 | g.117592172T>C | CA368979179 | CFTR | c.2005T>C (p.Phe669Leu) c.*1719T>C (n.*1719T>C) c.1822T>C (p.Phe608Leu) c.*305T>C (n.*305T>C) c.*1829T>C (n.*1829T>C) c.1579T>C (p.Phe527Leu) c.1402-10654T>C (n.1402-10654T>C) c.1915T>C (p.Phe639Leu) c.2095T>C (p.Phe699Leu) c.1762T>C (p.Phe588Leu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592172T>G | CA368979180 | CFTR | c.2005T>G (p.Phe669Val) c.*1719T>G (n.*1719T>G) c.1822T>G (p.Phe608Val) c.*305T>G (n.*305T>G) c.*1829T>G (n.*1829T>G) c.1579T>G (p.Phe527Val) c.1402-10654T>G (n.1402-10654T>G) c.1915T>G (p.Phe639Val) c.2095T>G (p.Phe699Val) c.1762T>G (p.Phe588Val) | |
| 7 | g.117592173T>A | CA368979181 | CFTR | c.2006T>A (p.Phe669Tyr) c.*1720T>A (n.*1720T>A) c.1823T>A (p.Phe608Tyr) c.*306T>A (n.*306T>A) c.*1830T>A (n.*1830T>A) c.1580T>A (p.Phe527Tyr) c.1402-10653T>A (n.1402-10653T>A) c.1916T>A (p.Phe639Tyr) c.2096T>A (p.Phe699Tyr) c.1763T>A (p.Phe588Tyr) | |
| 7 | g.117592173T>C | CA368979183 | CFTR | c.2006T>C (p.Phe669Ser) c.*1720T>C (n.*1720T>C) c.1823T>C (p.Phe608Ser) c.*306T>C (n.*306T>C) c.*1830T>C (n.*1830T>C) c.1580T>C (p.Phe527Ser) c.1402-10653T>C (n.1402-10653T>C) c.1916T>C (p.Phe639Ser) c.2096T>C (p.Phe699Ser) c.1763T>C (p.Phe588Ser) | |
| 7 | g.117592173T>G | CA368979182 | CFTR | c.2006T>G (p.Phe669Cys) c.*1720T>G (n.*1720T>G) c.1823T>G (p.Phe608Cys) c.*306T>G (n.*306T>G) c.*1830T>G (n.*1830T>G) c.1580T>G (p.Phe527Cys) c.1402-10653T>G (n.1402-10653T>G) c.1916T>G (p.Phe639Cys) c.2096T>G (p.Phe699Cys) c.1763T>G (p.Phe588Cys) | |
| 7 | g.117592174C>A | CA368979190 | CFTR | c.2007C>A (p.Phe669Leu) c.*1721C>A (n.*1721C>A) c.1824C>A (p.Phe608Leu) c.*307C>A (n.*307C>A) c.*1831C>A (n.*1831C>A) c.1581C>A (p.Phe527Leu) c.1402-10652C>A (n.1402-10652C>A) c.1917C>A (p.Phe639Leu) c.2097C>A (p.Phe699Leu) c.1764C>A (p.Phe588Leu) | |
| 7 | g.117592174C= | CA1737394454 | CFTR | c.2007C= (p.Phe669=) c.*1721C= (n.*1721C=) c.1824C= (p.Phe608=) c.*307C= (n.*307C=) c.*1831C= (n.*1831C=) c.1581C= (p.Phe527=) c.1402-10652C= (n.1402-10652C=) c.1917C= (p.Phe639=) c.2097C= (p.Phe699=) c.1764C= (p.Phe588=) | |
| 7 | g.117592174C>G | CA368979192 | CFTR | c.2007C>G (p.Phe669Leu) c.*1721C>G (n.*1721C>G) c.1824C>G (p.Phe608Leu) c.*307C>G (n.*307C>G) c.*1831C>G (n.*1831C>G) c.1581C>G (p.Phe527Leu) c.1402-10652C>G (n.1402-10652C>G) c.1917C>G (p.Phe639Leu) c.2097C>G (p.Phe699Leu) c.1764C>G (p.Phe588Leu) | |
| 7 | g.117592174C>T | CA164947676 | CFTR | c.2007C>T (p.Phe669=) c.*1721C>T (n.*1721C>T) c.1824C>T (p.Phe608=) c.*307C>T (n.*307C>T) c.*1831C>T (n.*1831C>T) c.1581C>T (p.Phe527=) c.1402-10652C>T (n.1402-10652C>T) c.1917C>T (p.Phe639=) c.2097C>T (p.Phe699=) c.1764C>T (p.Phe588=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592175T>A | CA368979194 | CFTR | c.2008T>A (p.Ser670Thr) c.*1722T>A (n.*1722T>A) c.1825T>A (p.Ser609Thr) c.*308T>A (n.*308T>A) c.*1832T>A (n.*1832T>A) c.1582T>A (p.Ser528Thr) c.1402-10651T>A (n.1402-10651T>A) c.1918T>A (p.Ser640Thr) c.2098T>A (p.Ser700Thr) c.1765T>A (p.Ser589Thr) |