| 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.117592211dup | CA915945425 | CFTR | c.2044dup (p.Thr682AsnfsTer7) c.*1758dup (n.*1758dup) c.1861dup (p.Thr621AsnfsTer7) c.*344dup (n.*344dup) c.*1868dup (n.*1868dup) c.1618dup (p.Thr540AsnfsTer7) c.1402-10615dup (n.1402-10615dup) c.1954dup (p.Thr652AsnfsTer7) c.2134dup (p.Thr712AsnfsTer7) c.1801dup (p.Thr601AsnfsTer7) | ClinVar dbSNP |
| 7 | g.117592211del | CA658822499 | CFTR | c.2044del (p.Thr682GlnfsTer?) c.*1758del (n.*1758del) c.1861del (p.Thr621GlnfsTer?) c.*344del (n.*344del) c.*1868del (n.*1868del) c.1618del (p.Thr540GlnfsTer?) c.1402-10615del (n.1402-10615del) c.1954del (p.Thr652GlnfsTer?) c.2134del (p.Thr712GlnfsTer?) c.1801del (p.Thr601GlnfsTer?) | ClinVar dbSNP |
| 7 | g.117592215_117592222dup | CA1106305610 | CFTR | c.2048_2055dup (p.Ser686LysfsTer?) c.*1762_*1769dup (n.*1762_*1769dup) c.1865_1872dup (p.Ser625LysfsTer?) c.*348_*355dup (n.*348_*355dup) c.*1872_*1879dup (n.*1872_*1879dup) c.1622_1629dup (p.Ser544LysfsTer?) c.1402-10611_1402-10604dup (n.1402-10611_1402-10604dup) c.1958_1965dup (p.Ser656LysfsTer?) c.2138_2145dup (p.Ser716LysfsTer?) c.1805_1812dup (p.Ser605LysfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117592210A>C | CA368979375 | CFTR | c.2043A>C (p.Glu681Asp) c.*1757A>C (n.*1757A>C) c.1860A>C (p.Glu620Asp) c.*343A>C (n.*343A>C) c.*1867A>C (n.*1867A>C) c.1617A>C (p.Glu539Asp) c.1402-10616A>C (n.1402-10616A>C) c.1953A>C (p.Glu651Asp) c.2133A>C (p.Glu711Asp) c.1800A>C (p.Glu600Asp) | |
| 7 | g.117592210A>G | CA457449017 | CFTR | c.2043A>G (p.Glu681=) c.*1757A>G (n.*1757A>G) c.1860A>G (p.Glu620=) c.*343A>G (n.*343A>G) c.*1867A>G (n.*1867A>G) c.1617A>G (p.Glu539=) c.1402-10616A>G (n.1402-10616A>G) c.1953A>G (p.Glu651=) c.2133A>G (p.Glu711=) c.1800A>G (p.Glu600=) | |
| 7 | g.117592210A>T | CA368979377 | CFTR | c.2043A>T (p.Glu681Asp) c.*1757A>T (n.*1757A>T) c.1860A>T (p.Glu620Asp) c.*343A>T (n.*343A>T) c.*1867A>T (n.*1867A>T) c.1617A>T (p.Glu539Asp) c.1402-10616A>T (n.1402-10616A>T) c.1953A>T (p.Glu651Asp) c.2133A>T (p.Glu711Asp) c.1800A>T (p.Glu600Asp) | |
| 7 | g.117592211A= | CA1737394560 | CFTR | c.2044A= (p.Thr682=) c.*1758A= (n.*1758A=) c.1861A= (p.Thr621=) c.*344A= (n.*344A=) c.*1868A= (n.*1868A=) c.1618A= (p.Thr540=) c.1402-10615A= (n.1402-10615A=) c.1954A= (p.Thr652=) c.2134A= (p.Thr712=) c.1801A= (p.Thr601=) | |
| 7 | g.117592211A>C | CA368979380 | CFTR | c.2044A>C (p.Thr682Pro) c.*1758A>C (n.*1758A>C) c.1861A>C (p.Thr621Pro) c.*344A>C (n.*344A>C) c.*1868A>C (n.*1868A>C) c.1618A>C (p.Thr540Pro) c.1402-10615A>C (n.1402-10615A>C) c.1954A>C (p.Thr652Pro) c.2134A>C (p.Thr712Pro) c.1801A>C (p.Thr601Pro) | |
| 7 | g.117592211A>G | CA368979383 | CFTR | c.2044A>G (p.Thr682Ala) c.*1758A>G (n.*1758A>G) c.1861A>G (p.Thr621Ala) c.*344A>G (n.*344A>G) c.*1868A>G (n.*1868A>G) c.1618A>G (p.Thr540Ala) c.1402-10615A>G (n.1402-10615A>G) c.1954A>G (p.Thr652Ala) c.2134A>G (p.Thr712Ala) c.1801A>G (p.Thr601Ala) | |
| 7 | g.117592211A>T | CA368979386 | CFTR | c.2044A>T (p.Thr682Ser) c.*1758A>T (n.*1758A>T) c.1861A>T (p.Thr621Ser) c.*344A>T (n.*344A>T) c.*1868A>T (n.*1868A>T) c.1618A>T (p.Thr540Ser) c.1402-10615A>T (n.1402-10615A>T) c.1954A>T (p.Thr652Ser) c.2134A>T (p.Thr712Ser) c.1801A>T (p.Thr601Ser) | |
| 7 | g.117592211_117592212delinsAC | CA1737394561 | CFTR | c.2044_2045delinsAC (p.Thr682=) c.*1758_*1759delinsAC (n.*1758_*1759delinsAC) c.1861_1862delinsAC (p.Thr621=) c.*344_*345delinsAC (n.*344_*345delinsAC) c.*1868_*1869delinsAC (n.*1868_*1869delinsAC) c.1618_1619delinsAC (p.Thr540=) c.1402-10615_1402-10614delinsAC (n.1402-10615_1402-10614delinsAC) c.1954_1955delinsAC (p.Thr652=) c.2134_2135delinsAC (p.Thr712=) c.1801_1802delinsAC (p.Thr601=) | |
| 7 | g.117592212del | CA915945426 | CFTR | c.2045del (p.Thr682LysfsTer?) c.*1759del (n.*1759del) c.1862del (p.Thr621LysfsTer?) c.*345del (n.*345del) c.*1869del (n.*1869del) c.1619del (p.Thr540LysfsTer?) c.1402-10614del (n.1402-10614del) c.1955del (p.Thr652LysfsTer?) c.2135del (p.Thr712LysfsTer?) c.1802del (p.Thr601LysfsTer?) | ClinVar dbSNP |
| 7 | g.117592212C>A | CA368979389 | CFTR | c.2045C>A (p.Thr682Lys) c.*1759C>A (n.*1759C>A) c.1862C>A (p.Thr621Lys) c.*345C>A (n.*345C>A) c.*1869C>A (n.*1869C>A) c.1619C>A (p.Thr540Lys) c.1402-10614C>A (n.1402-10614C>A) c.1955C>A (p.Thr652Lys) c.2135C>A (p.Thr712Lys) c.1802C>A (p.Thr601Lys) | ClinVar gnomAD v3 gnomAD v4 |
| 7 | g.117592212C>G | CA368979394 | CFTR | c.2045C>G (p.Thr682Arg) c.*1759C>G (n.*1759C>G) c.1862C>G (p.Thr621Arg) c.*345C>G (n.*345C>G) c.*1869C>G (n.*1869C>G) c.1619C>G (p.Thr540Arg) c.1402-10614C>G (n.1402-10614C>G) c.1955C>G (p.Thr652Arg) c.2135C>G (p.Thr712Arg) c.1802C>G (p.Thr601Arg) | |
| 7 | g.117592212C>T | CA368979392 | CFTR | c.2045C>T (p.Thr682Ile) c.*1759C>T (n.*1759C>T) c.1862C>T (p.Thr621Ile) c.*345C>T (n.*345C>T) c.*1869C>T (n.*1869C>T) c.1619C>T (p.Thr540Ile) c.1402-10614C>T (n.1402-10614C>T) c.1955C>T (p.Thr652Ile) c.2135C>T (p.Thr712Ile) c.1802C>T (p.Thr601Ile) | |
| 7 | g.117592212dup | CA326736 | CFTR | c.2045dup (p.Gln685ThrfsTer4) c.*1759dup (n.*1759dup) c.1862dup (p.Gln624ThrfsTer4) c.*345dup (n.*345dup) c.*1869dup (n.*1869dup) c.1619dup (p.Gln543ThrfsTer4) c.1402-10614dup (n.1402-10614dup) c.1955dup (p.Gln655ThrfsTer4) c.2135dup (p.Gln715ThrfsTer4) c.1802dup (p.Gln604ThrfsTer4) | ClinVar dbSNP |
| 7 | g.117592212_117592214delinsCAA | CA1737394575 | CFTR | c.2045_2047delinsCAA (p.Thr682=) c.*1759_*1761delinsCAA (n.*1759_*1761delinsCAA) c.1862_1864delinsCAA (p.Thr621=) c.*345_*347delinsCAA (n.*345_*347delinsCAA) c.*1869_*1871delinsCAA (n.*1869_*1871delinsCAA) c.1619_1621delinsCAA (p.Thr540=) c.1402-10614_1402-10612delinsCAA (n.1402-10614_1402-10612delinsCAA) c.1955_1957delinsCAA (p.Thr652=) c.2135_2137delinsCAA (p.Thr712=) c.1802_1804delinsCAA (p.Thr601=) | |
| 7 | g.117592213A>C | CA457449018 | CFTR | c.2046A>C (p.Thr682=) c.*1760A>C (n.*1760A>C) c.1863A>C (p.Thr621=) c.*346A>C (n.*346A>C) c.*1870A>C (n.*1870A>C) c.1620A>C (p.Thr540=) c.1402-10613A>C (n.1402-10613A>C) c.1956A>C (p.Thr652=) c.2136A>C (p.Thr712=) c.1803A>C (p.Thr601=) | |
| 7 | g.117592213A>G | CA457449019 | CFTR | c.2046A>G (p.Thr682=) c.*1760A>G (n.*1760A>G) c.1863A>G (p.Thr621=) c.*346A>G (n.*346A>G) c.*1870A>G (n.*1870A>G) c.1620A>G (p.Thr540=) c.1402-10613A>G (n.1402-10613A>G) c.1956A>G (p.Thr652=) c.2136A>G (p.Thr712=) c.1803A>G (p.Thr601=) | ClinVar dbSNP |
| 7 | g.117592213A>T | CA457449020 | CFTR | c.2046A>T (p.Thr682=) c.*1760A>T (n.*1760A>T) c.1863A>T (p.Thr621=) c.*346A>T (n.*346A>T) c.*1870A>T (n.*1870A>T) c.1620A>T (p.Thr540=) c.1402-10613A>T (n.1402-10613A>T) c.1956A>T (p.Thr652=) c.2136A>T (p.Thr712=) c.1803A>T (p.Thr601=) | |
| 7 | g.117592219dup | CA233699 | CFTR | c.2052dup (p.Gln685ThrfsTer4) c.*1766dup (n.*1766dup) c.1869dup (p.Gln624ThrfsTer4) c.*352dup (n.*352dup) c.*1876dup (n.*1876dup) c.1626dup (p.Gln543ThrfsTer4) c.1402-10607dup (n.1402-10607dup) c.1962dup (p.Gln655ThrfsTer4) c.2142dup (p.Gln715ThrfsTer4) c.1809dup (p.Gln604ThrfsTer4) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592218_117592219dup | CA913190194 | CFTR | c.2051_2052dup (p.Gln685AsnfsTer?) c.*1765_*1766dup (n.*1765_*1766dup) c.1868_1869dup (p.Gln624AsnfsTer?) c.*351_*352dup (n.*351_*352dup) c.*1875_*1876dup (n.*1875_*1876dup) c.1625_1626dup (p.Gln543AsnfsTer?) c.1402-10608_1402-10607dup (n.1402-10608_1402-10607dup) c.1961_1962dup (p.Gln655AsnfsTer?) c.2141_2142dup (p.Gln715AsnfsTer?) c.1808_1809dup (p.Gln604AsnfsTer?) | ClinVar dbSNP |
| 7 | g.117592219del | CA344706 | CFTR | c.2052del (p.Lys684AsnfsTer?) c.*1766del (n.*1766del) c.1869del (p.Lys623AsnfsTer?) c.*352del (n.*352del) c.*1876del (n.*1876del) c.1626del (p.Lys542AsnfsTer?) c.1402-10607del (n.1402-10607del) c.1962del (p.Lys654AsnfsTer?) c.2142del (p.Lys714AsnfsTer?) c.1809del (p.Lys603AsnfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592218_117592219del | CA326739 | CFTR | c.2051_2052del (p.Lys684ThrfsTer4) c.*1765_*1766del (n.*1765_*1766del) c.1868_1869del (p.Lys623ThrfsTer4) c.*351_*352del (n.*351_*352del) c.*1875_*1876del (n.*1875_*1876del) c.1625_1626del (p.Lys542ThrfsTer4) c.1402-10608_1402-10607del (n.1402-10608_1402-10607del) c.1961_1962del (p.Lys654ThrfsTer4) c.2141_2142del (p.Lys714ThrfsTer4) c.1808_1809del (p.Lys603ThrfsTer4) | ClinVar dbSNP |
| 7 | g.117592216_117592219del | CA2573052803 | CFTR | c.2049_2052del (p.Lys683AsnfsTer?) c.*1763_*1766del (n.*1763_*1766del) c.1866_1869del (p.Lys622AsnfsTer?) c.*349_*352del (n.*349_*352del) c.*1873_*1876del (n.*1873_*1876del) c.1623_1626del (p.Lys541AsnfsTer?) c.1402-10610_1402-10607del (n.1402-10610_1402-10607del) c.1959_1962del (p.Lys653AsnfsTer?) c.2139_2142del (p.Lys713AsnfsTer?) c.1806_1809del (p.Lys602AsnfsTer?) | ClinVar dbSNP |
| 7 | g.117592214A>C | CA368979407 | CFTR | c.2047A>C (p.Lys683Gln) c.*1761A>C (n.*1761A>C) c.1864A>C (p.Lys622Gln) c.*347A>C (n.*347A>C) c.*1871A>C (n.*1871A>C) c.1621A>C (p.Lys541Gln) c.1402-10612A>C (n.1402-10612A>C) c.1957A>C (p.Lys653Gln) c.2137A>C (p.Lys713Gln) c.1804A>C (p.Lys602Gln) | |
| 7 | g.117592214A>G | CA368979409 | CFTR | c.2047A>G (p.Lys683Glu) c.*1761A>G (n.*1761A>G) c.1864A>G (p.Lys622Glu) c.*347A>G (n.*347A>G) c.*1871A>G (n.*1871A>G) c.1621A>G (p.Lys541Glu) c.1402-10612A>G (n.1402-10612A>G) c.1957A>G (p.Lys653Glu) c.2137A>G (p.Lys713Glu) c.1804A>G (p.Lys602Glu) | |
| 7 | g.117592214A>T | CA368979411 | CFTR | c.2047A>T (p.Lys683Ter) c.*1761A>T (n.*1761A>T) c.1864A>T (p.Lys622Ter) c.*347A>T (n.*347A>T) c.*1871A>T (n.*1871A>T) c.1621A>T (p.Lys541Ter) c.1402-10612A>T (n.1402-10612A>T) c.1957A>T (p.Lys653Ter) c.2137A>T (p.Lys713Ter) c.1804A>T (p.Lys602Ter) | |
| 7 | g.117592215A= | CA1737394598 | CFTR | c.2048A= (p.Lys683=) c.*1762A= (n.*1762A=) c.1865A= (p.Lys622=) c.*348A= (n.*348A=) c.*1872A= (n.*1872A=) c.1622A= (p.Lys541=) c.1402-10611A= (n.1402-10611A=) c.1958A= (p.Lys653=) c.2138A= (p.Lys713=) c.1805A= (p.Lys602=) | |
| 7 | g.117592215A>C | CA368979414 | CFTR | c.2048A>C (p.Lys683Thr) c.*1762A>C (n.*1762A>C) c.1865A>C (p.Lys622Thr) c.*348A>C (n.*348A>C) c.*1872A>C (n.*1872A>C) c.1622A>C (p.Lys541Thr) c.1402-10611A>C (n.1402-10611A>C) c.1958A>C (p.Lys653Thr) c.2138A>C (p.Lys713Thr) c.1805A>C (p.Lys602Thr) | |
| 7 | g.117592215A>G | CA164947738 | CFTR | c.2048A>G (p.Lys683Arg) c.*1762A>G (n.*1762A>G) c.1865A>G (p.Lys622Arg) c.*348A>G (n.*348A>G) c.*1872A>G (n.*1872A>G) c.1622A>G (p.Lys541Arg) c.1402-10611A>G (n.1402-10611A>G) c.1958A>G (p.Lys653Arg) c.2138A>G (p.Lys713Arg) c.1805A>G (p.Lys602Arg) | dbSNP gnomAD v3 |
| 7 | g.117592215A>T | CA368979417 | CFTR | c.2048A>T (p.Lys683Ile) c.*1762A>T (n.*1762A>T) c.1865A>T (p.Lys622Ile) c.*348A>T (n.*348A>T) c.*1872A>T (n.*1872A>T) c.1622A>T (p.Lys541Ile) c.1402-10611A>T (n.1402-10611A>T) c.1958A>T (p.Lys653Ile) c.2138A>T (p.Lys713Ile) c.1805A>T (p.Lys602Ile) | |
| 7 | g.117592216A>C | CA368979421 | CFTR | c.2049A>C (p.Lys683Asn) c.*1763A>C (n.*1763A>C) c.1866A>C (p.Lys622Asn) c.*349A>C (n.*349A>C) c.*1873A>C (n.*1873A>C) c.1623A>C (p.Lys541Asn) c.1402-10610A>C (n.1402-10610A>C) c.1959A>C (p.Lys653Asn) c.2139A>C (p.Lys713Asn) c.1806A>C (p.Lys602Asn) | |
| 7 | g.117592216A>G | CA457449021 | CFTR | c.2049A>G (p.Lys683=) c.*1763A>G (n.*1763A>G) c.1866A>G (p.Lys622=) c.*349A>G (n.*349A>G) c.*1873A>G (n.*1873A>G) c.1623A>G (p.Lys541=) c.1402-10610A>G (n.1402-10610A>G) c.1959A>G (p.Lys653=) c.2139A>G (p.Lys713=) c.1806A>G (p.Lys602=) | |
| 7 | g.117592216A>T | CA368979423 | CFTR | c.2049A>T (p.Lys683Asn) c.*1763A>T (n.*1763A>T) c.1866A>T (p.Lys622Asn) c.*349A>T (n.*349A>T) c.*1873A>T (n.*1873A>T) c.1623A>T (p.Lys541Asn) c.1402-10610A>T (n.1402-10610A>T) c.1959A>T (p.Lys653Asn) c.2139A>T (p.Lys713Asn) c.1806A>T (p.Lys602Asn) | |
| 7 | g.117592216_117592220delinsAAAAC | CA1737394602 | CFTR | c.2049_2053delinsAAAAC (p.Lys683=) c.*1763_*1767delinsAAAAC (n.*1763_*1767delinsAAAAC) c.1866_1870delinsAAAAC (p.Lys622=) c.*349_*353delinsAAAAC (n.*349_*353delinsAAAAC) c.*1873_*1877delinsAAAAC (n.*1873_*1877delinsAAAAC) c.1623_1627delinsAAAAC (p.Lys541=) c.1402-10610_1402-10606delinsAAAAC (n.1402-10610_1402-10606delinsAAAAC) c.1959_1963delinsAAAAC (p.Lys653=) c.2139_2143delinsAAAAC (p.Lys713=) c.1806_1810delinsAAAAC (p.Lys602=) | |
| 7 | g.117592217A>C | CA368979433 | CFTR | c.2050A>C (p.Lys684Gln) c.*1764A>C (n.*1764A>C) c.1867A>C (p.Lys623Gln) c.*350A>C (n.*350A>C) c.*1874A>C (n.*1874A>C) c.1624A>C (p.Lys542Gln) c.1402-10609A>C (n.1402-10609A>C) c.1960A>C (p.Lys654Gln) c.2140A>C (p.Lys714Gln) c.1807A>C (p.Lys603Gln) | |
| 7 | g.117592217A>G | CA368979432 | CFTR | c.2050A>G (p.Lys684Glu) c.*1764A>G (n.*1764A>G) c.1867A>G (p.Lys623Glu) c.*350A>G (n.*350A>G) c.*1874A>G (n.*1874A>G) c.1624A>G (p.Lys542Glu) c.1402-10609A>G (n.1402-10609A>G) c.1960A>G (p.Lys654Glu) c.2140A>G (p.Lys714Glu) c.1807A>G (p.Lys603Glu) | |
| 7 | g.117592217A>T | CA368979427 | CFTR | c.2050A>T (p.Lys684Ter) c.*1764A>T (n.*1764A>T) c.1867A>T (p.Lys623Ter) c.*350A>T (n.*350A>T) c.*1874A>T (n.*1874A>T) c.1624A>T (p.Lys542Ter) c.1402-10609A>T (n.1402-10609A>T) c.1960A>T (p.Lys654Ter) c.2140A>T (p.Lys714Ter) c.1807A>T (p.Lys603Ter) | |
| 7 | g.117592217_117592219delinsAAA | CA1737394609 | CFTR | c.2050_2052delinsAAA (p.Lys684=) c.*1764_*1766delinsAAA (n.*1764_*1766delinsAAA) c.1867_1869delinsAAA (p.Lys623=) c.*350_*352delinsAAA (n.*350_*352delinsAAA) c.*1874_*1876delinsAAA (n.*1874_*1876delinsAAA) c.1624_1626delinsAAA (p.Lys542=) c.1402-10609_1402-10607delinsAAA (n.1402-10609_1402-10607delinsAAA) c.1960_1962delinsAAA (p.Lys654=) c.2140_2142delinsAAA (p.Lys714=) c.1807_1809delinsAAA (p.Lys603=) | |
| 7 | g.117592217_117592220delinsAAAC | CA1737394607 | CFTR | c.2050_2053delinsAAAC (p.Lys684=) c.*1764_*1767delinsAAAC (n.*1764_*1767delinsAAAC) c.1867_1870delinsAAAC (p.Lys623=) c.*350_*353delinsAAAC (n.*350_*353delinsAAAC) c.*1874_*1877delinsAAAC (n.*1874_*1877delinsAAAC) c.1624_1627delinsAAAC (p.Lys542=) c.1402-10609_1402-10606delinsAAAC (n.1402-10609_1402-10606delinsAAAC) c.1960_1963delinsAAAC (p.Lys654=) c.2140_2143delinsAAAC (p.Lys714=) c.1807_1810delinsAAAC (p.Lys603=) | |
| 7 | g.117592219_117592222del | CA368979429 | CFTR | c.2052_2055del (p.Lys684AsnfsTer?) c.*1766_*1769del (n.*1766_*1769del) c.1869_1872del (p.Lys623AsnfsTer?) c.*352_*355del (n.*352_*355del) c.*1876_*1879del (n.*1876_*1879del) c.1626_1629del (p.Lys542AsnfsTer?) c.1402-10607_1402-10604del (n.1402-10607_1402-10604del) c.1962_1965del (p.Lys654AsnfsTer?) c.2142_2145del (p.Lys714AsnfsTer?) c.1809_1812del (p.Lys603AsnfsTer?) | dbSNP |
| 7 | g.117592218A= | CA1737394622 | CFTR | c.2051A= (p.Lys684=) c.*1765A= (n.*1765A=) c.1868A= (p.Lys623=) c.*351A= (n.*351A=) c.*1875A= (n.*1875A=) c.1625A= (p.Lys542=) c.1402-10608A= (n.1402-10608A=) c.1961A= (p.Lys654=) c.2141A= (p.Lys714=) c.1808A= (p.Lys603=) | |
| 7 | g.117592218A>C | CA368979438 | CFTR | c.2051A>C (p.Lys684Thr) c.*1765A>C (n.*1765A>C) c.1868A>C (p.Lys623Thr) c.*351A>C (n.*351A>C) c.*1875A>C (n.*1875A>C) c.1625A>C (p.Lys542Thr) c.1402-10608A>C (n.1402-10608A>C) c.1961A>C (p.Lys654Thr) c.2141A>C (p.Lys714Thr) c.1808A>C (p.Lys603Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592218A>G | CA164947746 | CFTR | c.2051A>G (p.Lys684Arg) c.*1765A>G (n.*1765A>G) c.1868A>G (p.Lys623Arg) c.*351A>G (n.*351A>G) c.*1875A>G (n.*1875A>G) c.1625A>G (p.Lys542Arg) c.1402-10608A>G (n.1402-10608A>G) c.1961A>G (p.Lys654Arg) c.2141A>G (p.Lys714Arg) c.1808A>G (p.Lys603Arg) | dbSNP |
| 7 | g.117592218A>T | CA368979436 | CFTR | c.2051A>T (p.Lys684Ile) c.*1765A>T (n.*1765A>T) c.1868A>T (p.Lys623Ile) c.*351A>T (n.*351A>T) c.*1875A>T (n.*1875A>T) c.1625A>T (p.Lys542Ile) c.1402-10608A>T (n.1402-10608A>T) c.1961A>T (p.Lys654Ile) c.2141A>T (p.Lys714Ile) c.1808A>T (p.Lys603Ile) | |
| 7 | g.117592218_117592219delinsG | CA325699 | CFTR | c.2051_2052delinsG (p.Lys684SerfsTer?) c.*1765_*1766delinsG (n.*1765_*1766delinsG) c.1868_1869delinsG (p.Lys623SerfsTer?) c.*351_*352delinsG (n.*351_*352delinsG) c.*1875_*1876delinsG (n.*1875_*1876delinsG) c.1625_1626delinsG (p.Lys542SerfsTer?) c.1402-10608_1402-10607delinsG (n.1402-10608_1402-10607delinsG) c.1961_1962delinsG (p.Lys654SerfsTer?) c.2141_2142delinsG (p.Lys714SerfsTer?) c.1808_1809delinsG (p.Lys603SerfsTer?) | ClinVar dbSNP |
| 7 | g.117592220_117592222del | CA577680764 | CFTR | c.2053_2055del (p.Gln685del) c.*1767_*1769del (n.*1767_*1769del) c.1870_1872del (p.Gln624del) c.*353_*355del (n.*353_*355del) c.*1877_*1879del (n.*1877_*1879del) c.1627_1629del (p.Gln543del) c.1402-10606_1402-10604del (n.1402-10606_1402-10604del) c.1963_1965del (p.Gln655del) c.2143_2145del (p.Gln715del) c.1810_1812del (p.Gln604del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592218_117592219insG | CA923726134 | CFTR | c.2051_2052insG (p.Gln685ThrfsTer4) c.*1765_*1766insG (n.*1765_*1766insG) c.1868_1869insG (p.Gln624ThrfsTer4) c.*351_*352insG (n.*351_*352insG) c.*1875_*1876insG (n.*1875_*1876insG) c.1625_1626insG (p.Gln543ThrfsTer4) c.1402-10608_1402-10607insG (n.1402-10608_1402-10607insG) c.1961_1962insG (p.Gln655ThrfsTer4) c.2141_2142insG (p.Gln715ThrfsTer4) c.1808_1809insG (p.Gln604ThrfsTer4) |