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.117592150_117592154delinsCCTAA | CA1737394382 | CFTR | c.1983_1987delinsCCTAA (p.Ile661=) c.*1697_*1701delinsCCTAA (n.*1697_*1701delinsCCTAA) c.1800_1804delinsCCTAA (p.Ile600=) c.*283_*287delinsCCTAA (n.*283_*287delinsCCTAA) c.*1807_*1811delinsCCTAA (n.*1807_*1811delinsCCTAA) c.1557_1561delinsCCTAA (p.Ile519=) c.1402-10676_1402-10672delinsCCTAA (n.1402-10676_1402-10672delinsCCTAA) c.1893_1897delinsCCTAA (p.Ile631=) c.2073_2077delinsCCTAA (p.Ile691=) c.1740_1744delinsCCTAA (p.Ile580=) | |
| 7 | g.117592153_117592156del | CA326724 | CFTR | c.1986_1989del (p.Thr663ArgfsTer8) c.*1700_*1703del (n.*1700_*1703del) c.1803_1806del (p.Thr602ArgfsTer8) c.*286_*289del (n.*286_*289del) c.*1810_*1813del (n.*1810_*1813del) c.1560_1563del (p.Thr521ArgfsTer8) c.1402-10673_1402-10670del (n.1402-10673_1402-10670del) c.1896_1899del (p.Thr633ArgfsTer8) c.2076_2079del (p.Thr693ArgfsTer8) c.1743_1746del (p.Thr582ArgfsTer8) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592154A= | CA1737394394 | CFTR | c.1987A= (p.Thr663=) c.*1701A= (n.*1701A=) c.1804A= (p.Thr602=) c.*287A= (n.*287A=) c.*1811A= (n.*1811A=) c.1561A= (p.Thr521=) c.1402-10672A= (n.1402-10672A=) c.1897A= (p.Thr633=) c.2077A= (p.Thr693=) c.1744A= (p.Thr582=) | |
| 7 | g.117592154A>C | CA368979141 | CFTR | c.1987A>C (p.Thr663Pro) c.*1701A>C (n.*1701A>C) c.1804A>C (p.Thr602Pro) c.*287A>C (n.*287A>C) c.*1811A>C (n.*1811A>C) c.1561A>C (p.Thr521Pro) c.1402-10672A>C (n.1402-10672A>C) c.1897A>C (p.Thr633Pro) c.2077A>C (p.Thr693Pro) c.1744A>C (p.Thr582Pro) | |
| 7 | g.117592154A>G | CA368979142 | CFTR | c.1987A>G (p.Thr663Ala) c.*1701A>G (n.*1701A>G) c.1804A>G (p.Thr602Ala) c.*287A>G (n.*287A>G) c.*1811A>G (n.*1811A>G) c.1561A>G (p.Thr521Ala) c.1402-10672A>G (n.1402-10672A>G) c.1897A>G (p.Thr633Ala) c.2077A>G (p.Thr693Ala) c.1744A>G (p.Thr582Ala) | |
| 7 | g.117592154A>T | CA368979143 | CFTR | c.1987A>T (p.Thr663Ser) c.*1701A>T (n.*1701A>T) c.1804A>T (p.Thr602Ser) c.*287A>T (n.*287A>T) c.*1811A>T (n.*1811A>T) c.1561A>T (p.Thr521Ser) c.1402-10672A>T (n.1402-10672A>T) c.1897A>T (p.Thr633Ser) c.2077A>T (p.Thr693Ser) c.1744A>T (p.Thr582Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592155C>A | CA368979144 | CFTR | c.1988C>A (p.Thr663Asn) c.*1702C>A (n.*1702C>A) c.1805C>A (p.Thr602Asn) c.*288C>A (n.*288C>A) c.*1812C>A (n.*1812C>A) c.1562C>A (p.Thr521Asn) c.1402-10671C>A (n.1402-10671C>A) c.1898C>A (p.Thr633Asn) c.2078C>A (p.Thr693Asn) c.1745C>A (p.Thr582Asn) | |
| 7 | g.117592155C>G | CA368979145 | CFTR | c.1988C>G (p.Thr663Ser) c.*1702C>G (n.*1702C>G) c.1805C>G (p.Thr602Ser) c.*288C>G (n.*288C>G) c.*1812C>G (n.*1812C>G) c.1562C>G (p.Thr521Ser) c.1402-10671C>G (n.1402-10671C>G) c.1898C>G (p.Thr633Ser) c.2078C>G (p.Thr693Ser) c.1745C>G (p.Thr582Ser) | |
| 7 | g.117592155C>T | CA368979146 | CFTR | c.1988C>T (p.Thr663Ile) c.*1702C>T (n.*1702C>T) c.1805C>T (p.Thr602Ile) c.*288C>T (n.*288C>T) c.*1812C>T (n.*1812C>T) c.1562C>T (p.Thr521Ile) c.1402-10671C>T (n.1402-10671C>T) c.1898C>T (p.Thr633Ile) c.2078C>T (p.Thr693Ile) c.1745C>T (p.Thr582Ile) | |
| 7 | g.117592156T>A | CA457448939 | CFTR | c.1989T>A (p.Thr663=) c.*1703T>A (n.*1703T>A) c.1806T>A (p.Thr602=) c.*289T>A (n.*289T>A) c.*1813T>A (n.*1813T>A) c.1563T>A (p.Thr521=) c.1402-10670T>A (n.1402-10670T>A) c.1899T>A (p.Thr633=) c.2079T>A (p.Thr693=) c.1746T>A (p.Thr582=) | |
| 7 | g.117592156T>C | CA457448937 | CFTR | c.1989T>C (p.Thr663=) c.*1703T>C (n.*1703T>C) c.1806T>C (p.Thr602=) c.*289T>C (n.*289T>C) c.*1813T>C (n.*1813T>C) c.1563T>C (p.Thr521=) c.1402-10670T>C (n.1402-10670T>C) c.1899T>C (p.Thr633=) c.2079T>C (p.Thr693=) c.1746T>C (p.Thr582=) | dbSNP |
| 7 | g.117592156T>G | CA457448934 | CFTR | c.1989T>G (p.Thr663=) c.*1703T>G (n.*1703T>G) c.1806T>G (p.Thr602=) c.*289T>G (n.*289T>G) c.*1813T>G (n.*1813T>G) c.1563T>G (p.Thr521=) c.1402-10670T>G (n.1402-10670T>G) c.1899T>G (p.Thr633=) c.2079T>G (p.Thr693=) c.1746T>G (p.Thr582=) | |
| 7 | g.117592156T= | CA1737394398 | CFTR | c.1989T= (p.Thr663=) c.*1703T= (n.*1703T=) c.1806T= (p.Thr602=) c.*289T= (n.*289T=) c.*1813T= (n.*1813T=) c.1563T= (p.Thr521=) c.1402-10670T= (n.1402-10670T=) c.1899T= (p.Thr633=) c.2079T= (p.Thr693=) c.1746T= (p.Thr582=) | |
| 7 | g.117592157G>A | CA368979147 | CFTR | c.1990G>A (p.Glu664Lys) c.*1704G>A (n.*1704G>A) c.1807G>A (p.Glu603Lys) c.*290G>A (n.*290G>A) c.*1814G>A (n.*1814G>A) c.1564G>A (p.Glu522Lys) c.1402-10669G>A (n.1402-10669G>A) c.1900G>A (p.Glu634Lys) c.2080G>A (p.Glu694Lys) c.1747G>A (p.Glu583Lys) | |
| 7 | g.117592157G>C | CA368979148 | CFTR | c.1990G>C (p.Glu664Gln) c.*1704G>C (n.*1704G>C) c.1807G>C (p.Glu603Gln) c.*290G>C (n.*290G>C) c.*1814G>C (n.*1814G>C) c.1564G>C (p.Glu522Gln) c.1402-10669G>C (n.1402-10669G>C) c.1900G>C (p.Glu634Gln) c.2080G>C (p.Glu694Gln) c.1747G>C (p.Glu583Gln) | ClinVar dbSNP |
| 7 | g.117592157G= | CA1737394406 | CFTR | c.1990G= (p.Glu664=) c.*1704G= (n.*1704G=) c.1807G= (p.Glu603=) c.*290G= (n.*290G=) c.*1814G= (n.*1814G=) c.1564G= (p.Glu522=) c.1402-10669G= (n.1402-10669G=) c.1900G= (p.Glu634=) c.2080G= (p.Glu694=) c.1747G= (p.Glu583=) | |
| 7 | g.117592157G>T | CA326725 | CFTR | c.1990G>T (p.Glu664Ter) c.*1704G>T (n.*1704G>T) c.1807G>T (p.Glu603Ter) c.*290G>T (n.*290G>T) c.*1814G>T (n.*1814G>T) c.1564G>T (p.Glu522Ter) c.1402-10669G>T (n.1402-10669G>T) c.1900G>T (p.Glu634Ter) c.2080G>T (p.Glu694Ter) c.1747G>T (p.Glu583Ter) | ClinVar dbSNP |
| 7 | g.117592158A>C | CA368979149 | CFTR | c.1991A>C (p.Glu664Ala) c.*1705A>C (n.*1705A>C) c.1808A>C (p.Glu603Ala) c.*291A>C (n.*291A>C) c.*1815A>C (n.*1815A>C) c.1565A>C (p.Glu522Ala) c.1402-10668A>C (n.1402-10668A>C) c.1901A>C (p.Glu634Ala) c.2081A>C (p.Glu694Ala) c.1748A>C (p.Glu583Ala) | |
| 7 | g.117592158A>G | CA368979150 | CFTR | c.1991A>G (p.Glu664Gly) c.*1705A>G (n.*1705A>G) c.1808A>G (p.Glu603Gly) c.*291A>G (n.*291A>G) c.*1815A>G (n.*1815A>G) c.1565A>G (p.Glu522Gly) c.1402-10668A>G (n.1402-10668A>G) c.1901A>G (p.Glu634Gly) c.2081A>G (p.Glu694Gly) c.1748A>G (p.Glu583Gly) | |
| 7 | g.117592158A>T | CA368979151 | CFTR | c.1991A>T (p.Glu664Val) c.*1705A>T (n.*1705A>T) c.1808A>T (p.Glu603Val) c.*291A>T (n.*291A>T) c.*1815A>T (n.*1815A>T) c.1565A>T (p.Glu522Val) c.1402-10668A>T (n.1402-10668A>T) c.1901A>T (p.Glu634Val) c.2081A>T (p.Glu694Val) c.1748A>T (p.Glu583Val) | |
| 7 | g.117592159G>A | CA457448941 | CFTR | c.1992G>A (p.Glu664=) c.*1706G>A (n.*1706G>A) c.1809G>A (p.Glu603=) c.*292G>A (n.*292G>A) c.*1816G>A (n.*1816G>A) c.1566G>A (p.Glu522=) c.1402-10667G>A (n.1402-10667G>A) c.1902G>A (p.Glu634=) c.2082G>A (p.Glu694=) c.1749G>A (p.Glu583=) | |
| 7 | g.117592159G>C | CA368979153 | CFTR | c.1992G>C (p.Glu664Asp) c.*1706G>C (n.*1706G>C) c.1809G>C (p.Glu603Asp) c.*292G>C (n.*292G>C) c.*1816G>C (n.*1816G>C) c.1566G>C (p.Glu522Asp) c.1402-10667G>C (n.1402-10667G>C) c.1902G>C (p.Glu634Asp) c.2082G>C (p.Glu694Asp) c.1749G>C (p.Glu583Asp) | |
| 7 | g.117592159G= | CA1737394408 | CFTR | c.1992G= (p.Glu664=) c.*1706G= (n.*1706G=) c.1809G= (p.Glu603=) c.*292G= (n.*292G=) c.*1816G= (n.*1816G=) c.1566G= (p.Glu522=) c.1402-10667G= (n.1402-10667G=) c.1902G= (p.Glu634=) c.2082G= (p.Glu694=) c.1749G= (p.Glu583=) | |
| 7 | g.117592159G>T | CA368979152 | CFTR | c.1992G>T (p.Glu664Asp) c.*1706G>T (n.*1706G>T) c.1809G>T (p.Glu603Asp) c.*292G>T (n.*292G>T) c.*1816G>T (n.*1816G>T) c.1566G>T (p.Glu522Asp) c.1402-10667G>T (n.1402-10667G>T) c.1902G>T (p.Glu634Asp) c.2082G>T (p.Glu694Asp) c.1749G>T (p.Glu583Asp) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592160A= | CA1737394414 | CFTR | c.1993A= (p.Thr665=) c.*1707A= (n.*1707A=) c.1810A= (p.Thr604=) c.*293A= (n.*293A=) c.*1817A= (n.*1817A=) c.1567A= (p.Thr523=) c.1402-10666A= (n.1402-10666A=) c.1903A= (p.Thr635=) c.2083A= (p.Thr695=) c.1750A= (p.Thr584=) | |
| 7 | g.117592160A>C | CA368979154 | CFTR | c.1993A>C (p.Thr665Pro) c.*1707A>C (n.*1707A>C) c.1810A>C (p.Thr604Pro) c.*293A>C (n.*293A>C) c.*1817A>C (n.*1817A>C) c.1567A>C (p.Thr523Pro) c.1402-10666A>C (n.1402-10666A>C) c.1903A>C (p.Thr635Pro) c.2083A>C (p.Thr695Pro) c.1750A>C (p.Thr584Pro) | |
| 7 | g.117592160A>G | CA368979155 | CFTR | c.1993A>G (p.Thr665Ala) c.*1707A>G (n.*1707A>G) c.1810A>G (p.Thr604Ala) c.*293A>G (n.*293A>G) c.*1817A>G (n.*1817A>G) c.1567A>G (p.Thr523Ala) c.1402-10666A>G (n.1402-10666A>G) c.1903A>G (p.Thr635Ala) c.2083A>G (p.Thr695Ala) c.1750A>G (p.Thr584Ala) | |
| 7 | g.117592160A>T | CA368979156 | CFTR | c.1993A>T (p.Thr665Ser) c.*1707A>T (n.*1707A>T) c.1810A>T (p.Thr604Ser) c.*293A>T (n.*293A>T) c.*1817A>T (n.*1817A>T) c.1567A>T (p.Thr523Ser) c.1402-10666A>T (n.1402-10666A>T) c.1903A>T (p.Thr635Ser) c.2083A>T (p.Thr695Ser) c.1750A>T (p.Thr584Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592161C>A | CA368979157 | CFTR | c.1994C>A (p.Thr665Asn) c.*1708C>A (n.*1708C>A) c.1811C>A (p.Thr604Asn) c.*294C>A (n.*294C>A) c.*1818C>A (n.*1818C>A) c.1568C>A (p.Thr523Asn) c.1402-10665C>A (n.1402-10665C>A) c.1904C>A (p.Thr635Asn) c.2084C>A (p.Thr695Asn) c.1751C>A (p.Thr584Asn) | dbSNP gnomAD v4 |
| 7 | g.117592161C= | CA1737394418 | CFTR | c.1994C= (p.Thr665=) c.*1708C= (n.*1708C=) c.1811C= (p.Thr604=) c.*294C= (n.*294C=) c.*1818C= (n.*1818C=) c.1568C= (p.Thr523=) c.1402-10665C= (n.1402-10665C=) c.1904C= (p.Thr635=) c.2084C= (p.Thr695=) c.1751C= (p.Thr584=) | |
| 7 | g.117592161C>G | CA368979158 | CFTR | c.1994C>G (p.Thr665Ser) c.*1708C>G (n.*1708C>G) c.1811C>G (p.Thr604Ser) c.*294C>G (n.*294C>G) c.*1818C>G (n.*1818C>G) c.1568C>G (p.Thr523Ser) c.1402-10665C>G (n.1402-10665C>G) c.1904C>G (p.Thr635Ser) c.2084C>G (p.Thr695Ser) c.1751C>G (p.Thr584Ser) | |
| 7 | g.117592161C>T | CA368979159 | CFTR | c.1994C>T (p.Thr665Ile) c.*1708C>T (n.*1708C>T) c.1811C>T (p.Thr604Ile) c.*294C>T (n.*294C>T) c.*1818C>T (n.*1818C>T) c.1568C>T (p.Thr523Ile) c.1402-10665C>T (n.1402-10665C>T) c.1904C>T (p.Thr635Ile) c.2084C>T (p.Thr695Ile) c.1751C>T (p.Thr584Ile) | |
| 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) |