| 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.117592310C>A | CA368980000 | CFTR | c.2143C>A (p.Gln715Lys) c.*1857C>A (n.*1857C>A) c.1960C>A (p.Gln654Lys) c.*443C>A (n.*443C>A) c.*1967C>A (n.*1967C>A) c.1717C>A (p.Gln573Lys) c.1402-10516C>A (n.1402-10516C>A) c.2053C>A (p.Gln685Lys) c.2233C>A (p.Gln745Lys) c.1900C>A (p.Gln634Lys) | |
| 7 | g.117592310C= | CA1737394868 | CFTR | c.2143C= (p.Gln715=) c.*1857C= (n.*1857C=) c.1960C= (p.Gln654=) c.*443C= (n.*443C=) c.*1967C= (n.*1967C=) c.1717C= (p.Gln573=) c.1402-10516C= (n.1402-10516C=) c.2053C= (p.Gln685=) c.2233C= (p.Gln745=) c.1900C= (p.Gln634=) | |
| 7 | g.117592310C>G | CA368980001 | CFTR | c.2143C>G (p.Gln715Glu) c.*1857C>G (n.*1857C>G) c.1960C>G (p.Gln654Glu) c.*443C>G (n.*443C>G) c.*1967C>G (n.*1967C>G) c.1717C>G (p.Gln573Glu) c.1402-10516C>G (n.1402-10516C>G) c.2053C>G (p.Gln685Glu) c.2233C>G (p.Gln745Glu) c.1900C>G (p.Gln634Glu) | ClinVar |
| 7 | g.117592310C>T | CA326751 | CFTR | c.2143C>T (p.Gln715Ter) c.*1857C>T (n.*1857C>T) c.1960C>T (p.Gln654Ter) c.*443C>T (n.*443C>T) c.*1967C>T (n.*1967C>T) c.1717C>T (p.Gln573Ter) c.1402-10516C>T (n.1402-10516C>T) c.2053C>T (p.Gln685Ter) c.2233C>T (p.Gln745Ter) c.1900C>T (p.Gln634Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592311A>C | CA368980003 | CFTR | c.2144A>C (p.Gln715Pro) c.*1858A>C (n.*1858A>C) c.1961A>C (p.Gln654Pro) c.*444A>C (n.*444A>C) c.*1968A>C (n.*1968A>C) c.1718A>C (p.Gln573Pro) c.1402-10515A>C (n.1402-10515A>C) c.2054A>C (p.Gln685Pro) c.2234A>C (p.Gln745Pro) c.1901A>C (p.Gln634Pro) | |
| 7 | g.117592311A>G | CA368980004 | CFTR | c.2144A>G (p.Gln715Arg) c.*1858A>G (n.*1858A>G) c.1961A>G (p.Gln654Arg) c.*444A>G (n.*444A>G) c.*1968A>G (n.*1968A>G) c.1718A>G (p.Gln573Arg) c.1402-10515A>G (n.1402-10515A>G) c.2054A>G (p.Gln685Arg) c.2234A>G (p.Gln745Arg) c.1901A>G (p.Gln634Arg) | |
| 7 | g.117592311A>T | CA368980005 | CFTR | c.2144A>T (p.Gln715Leu) c.*1858A>T (n.*1858A>T) c.1961A>T (p.Gln654Leu) c.*444A>T (n.*444A>T) c.*1968A>T (n.*1968A>T) c.1718A>T (p.Gln573Leu) c.1402-10515A>T (n.1402-10515A>T) c.2054A>T (p.Gln685Leu) c.2234A>T (p.Gln745Leu) c.1901A>T (p.Gln634Leu) | |
| 7 | g.117592312A= | CA1737394880 | CFTR | c.2145A= (p.Gln715=) c.*1859A= (n.*1859A=) c.1962A= (p.Gln654=) c.*445A= (n.*445A=) c.*1969A= (n.*1969A=) c.1719A= (p.Gln573=) c.1402-10514A= (n.1402-10514A=) c.2055A= (p.Gln685=) c.2235A= (p.Gln745=) c.1902A= (p.Gln634=) | |
| 7 | g.117592312A>C | CA4451147 | CFTR | c.2145A>C (p.Gln715His) c.*1859A>C (n.*1859A>C) c.1962A>C (p.Gln654His) c.*445A>C (n.*445A>C) c.*1969A>C (n.*1969A>C) c.1719A>C (p.Gln573His) c.1402-10514A>C (n.1402-10514A>C) c.2055A>C (p.Gln685His) c.2235A>C (p.Gln745His) c.1902A>C (p.Gln634His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592312A>G | CA457449380 | CFTR | c.2145A>G (p.Gln715=) c.*1859A>G (n.*1859A>G) c.1962A>G (p.Gln654=) c.*445A>G (n.*445A>G) c.*1969A>G (n.*1969A>G) c.1719A>G (p.Gln573=) c.1402-10514A>G (n.1402-10514A>G) c.2055A>G (p.Gln685=) c.2235A>G (p.Gln745=) c.1902A>G (p.Gln634=) | ClinVar |
| 7 | g.117592312A>T | CA368980010 | CFTR | c.2145A>T (p.Gln715His) c.*1859A>T (n.*1859A>T) c.1962A>T (p.Gln654His) c.*445A>T (n.*445A>T) c.*1969A>T (n.*1969A>T) c.1719A>T (p.Gln573His) c.1402-10514A>T (n.1402-10514A>T) c.2055A>T (p.Gln685His) c.2235A>T (p.Gln745His) c.1902A>T (p.Gln634His) | |
| 7 | g.117592312_117592313delinsAA | CA1737394876 | CFTR | c.2145_2146delinsAA (p.Gln715=) c.*1859_*1860delinsAA (n.*1859_*1860delinsAA) c.1962_1963delinsAA (p.Gln654=) c.*445_*446delinsAA (n.*445_*446delinsAA) c.*1969_*1970delinsAA (n.*1969_*1970delinsAA) c.1719_1720delinsAA (p.Gln573=) c.1402-10514_1402-10513delinsAA (n.1402-10514_1402-10513delinsAA) c.2055_2056delinsAA (p.Gln685=) c.2235_2236delinsAA (p.Gln745=) c.1902_1903delinsAA (p.Gln634=) | |
| 7 | g.117592312_117592313delinsGT | CA326753 | CFTR | c.2145_2146delinsGT (p.Gln716Ter) c.*1859_*1860delinsGT (n.*1859_*1860delinsGT) c.1962_1963delinsGT (p.Gln655Ter) c.*445_*446delinsGT (n.*445_*446delinsGT) c.*1969_*1970delinsGT (n.*1969_*1970delinsGT) c.1719_1720delinsGT (p.Gln574Ter) c.1402-10514_1402-10513delinsGT (n.1402-10514_1402-10513delinsGT) c.2055_2056delinsGT (p.Gln686Ter) c.2235_2236delinsGT (p.Gln746Ter) c.1902_1903delinsGT (p.Gln635Ter) | ClinVar dbSNP |
| 7 | g.117592313A= | CA1737394887 | CFTR | c.2146A= (p.Lys716=) c.*1860A= (n.*1860A=) c.1963A= (p.Lys655=) c.*446A= (n.*446A=) c.*1970A= (n.*1970A=) c.1720A= (p.Lys574=) c.1402-10513A= (n.1402-10513A=) c.2056A= (p.Lys686=) c.2236A= (p.Lys746=) c.1903A= (p.Lys635=) | |
| 7 | g.117592313A>C | CA368980011 | CFTR | c.2146A>C (p.Lys716Gln) c.*1860A>C (n.*1860A>C) c.1963A>C (p.Lys655Gln) c.*446A>C (n.*446A>C) c.*1970A>C (n.*1970A>C) c.1720A>C (p.Lys574Gln) c.1402-10513A>C (n.1402-10513A>C) c.2056A>C (p.Lys686Gln) c.2236A>C (p.Lys746Gln) c.1903A>C (p.Lys635Gln) | |
| 7 | g.117592313A>G | CA368980012 | CFTR | c.2146A>G (p.Lys716Glu) c.*1860A>G (n.*1860A>G) c.1963A>G (p.Lys655Glu) c.*446A>G (n.*446A>G) c.*1970A>G (n.*1970A>G) c.1720A>G (p.Lys574Glu) c.1402-10513A>G (n.1402-10513A>G) c.2056A>G (p.Lys686Glu) c.2236A>G (p.Lys746Glu) c.1903A>G (p.Lys635Glu) | |
| 7 | g.117592313A>T | CA254113 | CFTR | c.2146A>T (p.Lys716Ter) c.*1860A>T (n.*1860A>T) c.1963A>T (p.Lys655Ter) c.*446A>T (n.*446A>T) c.*1970A>T (n.*1970A>T) c.1720A>T (p.Lys574Ter) c.1402-10513A>T (n.1402-10513A>T) c.2056A>T (p.Lys686Ter) c.2236A>T (p.Lys746Ter) c.1903A>T (p.Lys635Ter) | ClinVar dbSNP |
| 7 | g.117592313_117592314insTTTCCATTGTGC | CA2573141690 | CFTR | c.2146_2147insTTTCCATTGTGC (p.Lys716delinsIleSerIleValGln) c.*1860_*1861insTTTCCATTGTGC (n.*1860_*1861insTTTCCATTGTGC) c.1963_1964insTTTCCATTGTGC (p.Lys655delinsIleSerIleValGln) c.*446_*447insTTTCCATTGTGC (n.*446_*447insTTTCCATTGTGC) c.*1970_*1971insTTTCCATTGTGC (n.*1970_*1971insTTTCCATTGTGC) c.1720_1721insTTTCCATTGTGC (p.Lys574delinsIleSerIleValGln) c.1402-10513_1402-10512insTTTCCATTGTGC (n.1402-10513_1402-10512insTTTCCATTGTGC) c.2056_2057insTTTCCATTGTGC (p.Lys686delinsIleSerIleValGln) c.2236_2237insTTTCCATTGTGC (p.Lys746delinsIleSerIleValGln) c.1903_1904insTTTCCATTGTGC (p.Lys635delinsIleSerIleValGln) | ClinVar dbSNP |
| 7 | g.117592314A>C | CA368980019 | CFTR | c.2147A>C (p.Lys716Thr) c.*1861A>C (n.*1861A>C) c.1964A>C (p.Lys655Thr) c.*447A>C (n.*447A>C) c.*1971A>C (n.*1971A>C) c.1721A>C (p.Lys574Thr) c.1402-10512A>C (n.1402-10512A>C) c.2057A>C (p.Lys686Thr) c.2237A>C (p.Lys746Thr) c.1904A>C (p.Lys635Thr) | |
| 7 | g.117592314A>G | CA368980017 | CFTR | c.2147A>G (p.Lys716Arg) c.*1861A>G (n.*1861A>G) c.1964A>G (p.Lys655Arg) c.*447A>G (n.*447A>G) c.*1971A>G (n.*1971A>G) c.1721A>G (p.Lys574Arg) c.1402-10512A>G (n.1402-10512A>G) c.2057A>G (p.Lys686Arg) c.2237A>G (p.Lys746Arg) c.1904A>G (p.Lys635Arg) | |
| 7 | g.117592314A>T | CA368980018 | CFTR | c.2147A>T (p.Lys716Met) c.*1861A>T (n.*1861A>T) c.1964A>T (p.Lys655Met) c.*447A>T (n.*447A>T) c.*1971A>T (n.*1971A>T) c.1721A>T (p.Lys574Met) c.1402-10512A>T (n.1402-10512A>T) c.2057A>T (p.Lys686Met) c.2237A>T (p.Lys746Met) c.1904A>T (p.Lys635Met) | |
| 7 | g.117592315G>A | CA457449381 | CFTR | c.2148G>A (p.Lys716=) c.*1862G>A (n.*1862G>A) c.1965G>A (p.Lys655=) c.*448G>A (n.*448G>A) c.*1972G>A (n.*1972G>A) c.1722G>A (p.Lys574=) c.1402-10511G>A (n.1402-10511G>A) c.2058G>A (p.Lys686=) c.2238G>A (p.Lys746=) c.1905G>A (p.Lys635=) | ClinVar dbSNP |
| 7 | g.117592315G>C | CA368980020 | CFTR | c.2148G>C (p.Lys716Asn) c.*1862G>C (n.*1862G>C) c.1965G>C (p.Lys655Asn) c.*448G>C (n.*448G>C) c.*1972G>C (n.*1972G>C) c.1722G>C (p.Lys574Asn) c.1402-10511G>C (n.1402-10511G>C) c.2058G>C (p.Lys686Asn) c.2238G>C (p.Lys746Asn) c.1905G>C (p.Lys635Asn) | |
| 7 | g.117592315G>T | CA368980021 | CFTR | c.2148G>T (p.Lys716Asn) c.*1862G>T (n.*1862G>T) c.1965G>T (p.Lys655Asn) c.*448G>T (n.*448G>T) c.*1972G>T (n.*1972G>T) c.1722G>T (p.Lys574Asn) c.1402-10511G>T (n.1402-10511G>T) c.2058G>T (p.Lys686Asn) c.2238G>T (p.Lys746Asn) c.1905G>T (p.Lys635Asn) | COSMIC |
| 7 | g.117592316A>C | CA368980022 | CFTR | c.2149A>C (p.Thr717Pro) c.*1863A>C (n.*1863A>C) c.1966A>C (p.Thr656Pro) c.*449A>C (n.*449A>C) c.*1973A>C (n.*1973A>C) c.1723A>C (p.Thr575Pro) c.1402-10510A>C (n.1402-10510A>C) c.2059A>C (p.Thr687Pro) c.2239A>C (p.Thr747Pro) c.1906A>C (p.Thr636Pro) | |
| 7 | g.117592316A>G | CA368980025 | CFTR | c.2149A>G (p.Thr717Ala) c.*1863A>G (n.*1863A>G) c.1966A>G (p.Thr656Ala) c.*449A>G (n.*449A>G) c.*1973A>G (n.*1973A>G) c.1723A>G (p.Thr575Ala) c.1402-10510A>G (n.1402-10510A>G) c.2059A>G (p.Thr687Ala) c.2239A>G (p.Thr747Ala) c.1906A>G (p.Thr636Ala) | gnomAD v4 |
| 7 | g.117592316A>T | CA368980029 | CFTR | c.2149A>T (p.Thr717Ser) c.*1863A>T (n.*1863A>T) c.1966A>T (p.Thr656Ser) c.*449A>T (n.*449A>T) c.*1973A>T (n.*1973A>T) c.1723A>T (p.Thr575Ser) c.1402-10510A>T (n.1402-10510A>T) c.2059A>T (p.Thr687Ser) c.2239A>T (p.Thr747Ser) c.1906A>T (p.Thr636Ser) | |
| 7 | g.117592317C>A | CA368980030 | CFTR | c.2150C>A (p.Thr717Asn) c.*1864C>A (n.*1864C>A) c.1967C>A (p.Thr656Asn) c.*450C>A (n.*450C>A) c.*1974C>A (n.*1974C>A) c.1724C>A (p.Thr575Asn) c.1402-10509C>A (n.1402-10509C>A) c.2060C>A (p.Thr687Asn) c.2240C>A (p.Thr747Asn) c.1907C>A (p.Thr636Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117592317C= | CA1737394891 | CFTR | c.2150C= (p.Thr717=) c.*1864C= (n.*1864C=) c.1967C= (p.Thr656=) c.*450C= (n.*450C=) c.*1974C= (n.*1974C=) c.1724C= (p.Thr575=) c.1402-10509C= (n.1402-10509C=) c.2060C= (p.Thr687=) c.2240C= (p.Thr747=) c.1907C= (p.Thr636=) | |
| 7 | g.117592317C>G | CA368980032 | CFTR | c.2150C>G (p.Thr717Ser) c.*1864C>G (n.*1864C>G) c.1967C>G (p.Thr656Ser) c.*450C>G (n.*450C>G) c.*1974C>G (n.*1974C>G) c.1724C>G (p.Thr575Ser) c.1402-10509C>G (n.1402-10509C>G) c.2060C>G (p.Thr687Ser) c.2240C>G (p.Thr747Ser) c.1907C>G (p.Thr636Ser) | |
| 7 | g.117592317C>T | CA4451148 | CFTR | c.2150C>T (p.Thr717Ile) c.*1864C>T (n.*1864C>T) c.1967C>T (p.Thr656Ile) c.*450C>T (n.*450C>T) c.*1974C>T (n.*1974C>T) c.1724C>T (p.Thr575Ile) c.1402-10509C>T (n.1402-10509C>T) c.2060C>T (p.Thr687Ile) c.2240C>T (p.Thr747Ile) c.1907C>T (p.Thr636Ile) | dbSNP ExAC gnomAD v4 |
| 7 | g.117592318T>A | CA457449382 | CFTR | c.2151T>A (p.Thr717=) c.*1865T>A (n.*1865T>A) c.1968T>A (p.Thr656=) c.*451T>A (n.*451T>A) c.*1975T>A (n.*1975T>A) c.1725T>A (p.Thr575=) c.1402-10508T>A (n.1402-10508T>A) c.2061T>A (p.Thr687=) c.2241T>A (p.Thr747=) c.1908T>A (p.Thr636=) | |
| 7 | g.117592318T>C | CA457449383 | CFTR | c.2151T>C (p.Thr717=) c.*1865T>C (n.*1865T>C) c.1968T>C (p.Thr656=) c.*451T>C (n.*451T>C) c.*1975T>C (n.*1975T>C) c.1725T>C (p.Thr575=) c.1402-10508T>C (n.1402-10508T>C) c.2061T>C (p.Thr687=) c.2241T>C (p.Thr747=) c.1908T>C (p.Thr636=) | ClinVar |
| 7 | g.117592318T>G | CA457449384 | CFTR | c.2151T>G (p.Thr717=) c.*1865T>G (n.*1865T>G) c.1968T>G (p.Thr656=) c.*451T>G (n.*451T>G) c.*1975T>G (n.*1975T>G) c.1725T>G (p.Thr575=) c.1402-10508T>G (n.1402-10508T>G) c.2061T>G (p.Thr687=) c.2241T>G (p.Thr747=) c.1908T>G (p.Thr636=) | ClinVar dbSNP |
| 7 | g.117592319C>A | CA368980038 | CFTR | c.2152C>A (p.Pro718Thr) c.*1866C>A (n.*1866C>A) c.1969C>A (p.Pro657Thr) c.*452C>A (n.*452C>A) c.*1976C>A (n.*1976C>A) c.1726C>A (p.Pro576Thr) c.1402-10507C>A (n.1402-10507C>A) c.2062C>A (p.Pro688Thr) c.2242C>A (p.Pro748Thr) c.1909C>A (p.Pro637Thr) | |
| 7 | g.117592319C>G | CA368980041 | CFTR | c.2152C>G (p.Pro718Ala) c.*1866C>G (n.*1866C>G) c.1969C>G (p.Pro657Ala) c.*452C>G (n.*452C>G) c.*1976C>G (n.*1976C>G) c.1726C>G (p.Pro576Ala) c.1402-10507C>G (n.1402-10507C>G) c.2062C>G (p.Pro688Ala) c.2242C>G (p.Pro748Ala) c.1909C>G (p.Pro637Ala) | |
| 7 | g.117592319C>T | CA368980046 | CFTR | c.2152C>T (p.Pro718Ser) c.*1866C>T (n.*1866C>T) c.1969C>T (p.Pro657Ser) c.*452C>T (n.*452C>T) c.*1976C>T (n.*1976C>T) c.1726C>T (p.Pro576Ser) c.1402-10507C>T (n.1402-10507C>T) c.2062C>T (p.Pro688Ser) c.2242C>T (p.Pro748Ser) c.1909C>T (p.Pro637Ser) | ClinVar |
| 7 | g.117592320C>A | CA368980060 | CFTR | c.2153C>A (p.Pro718His) c.*1867C>A (n.*1867C>A) c.1970C>A (p.Pro657His) c.*453C>A (n.*453C>A) c.*1977C>A (n.*1977C>A) c.1727C>A (p.Pro576His) c.1402-10506C>A (n.1402-10506C>A) c.2063C>A (p.Pro688His) c.2243C>A (p.Pro748His) c.1910C>A (p.Pro637His) | |
| 7 | g.117592320C= | CA1737394897 | CFTR | c.2153C= (p.Pro718=) c.*1867C= (n.*1867C=) c.1970C= (p.Pro657=) c.*453C= (n.*453C=) c.*1977C= (n.*1977C=) c.1727C= (p.Pro576=) c.1402-10506C= (n.1402-10506C=) c.2063C= (p.Pro688=) c.2243C= (p.Pro748=) c.1910C= (p.Pro637=) | |
| 7 | g.117592320C>G | CA4451149 | CFTR | c.2153C>G (p.Pro718Arg) c.*1867C>G (n.*1867C>G) c.1970C>G (p.Pro657Arg) c.*453C>G (n.*453C>G) c.*1977C>G (n.*1977C>G) c.1727C>G (p.Pro576Arg) c.1402-10506C>G (n.1402-10506C>G) c.2063C>G (p.Pro688Arg) c.2243C>G (p.Pro748Arg) c.1910C>G (p.Pro637Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592320C>T | CA368980051 | CFTR | c.2153C>T (p.Pro718Leu) c.*1867C>T (n.*1867C>T) c.1970C>T (p.Pro657Leu) c.*453C>T (n.*453C>T) c.*1977C>T (n.*1977C>T) c.1727C>T (p.Pro576Leu) c.1402-10506C>T (n.1402-10506C>T) c.2063C>T (p.Pro688Leu) c.2243C>T (p.Pro748Leu) c.1910C>T (p.Pro637Leu) | |
| 7 | g.117592321C>A | CA457449386 | CFTR | c.2154C>A (p.Pro718=) c.*1868C>A (n.*1868C>A) c.1971C>A (p.Pro657=) c.*454C>A (n.*454C>A) c.*1978C>A (n.*1978C>A) c.1728C>A (p.Pro576=) c.1402-10505C>A (n.1402-10505C>A) c.2064C>A (p.Pro688=) c.2244C>A (p.Pro748=) c.1911C>A (p.Pro637=) | |
| 7 | g.117592321C>G | CA457449385 | CFTR | c.2154C>G (p.Pro718=) c.*1868C>G (n.*1868C>G) c.1971C>G (p.Pro657=) c.*454C>G (n.*454C>G) c.*1978C>G (n.*1978C>G) c.1728C>G (p.Pro576=) c.1402-10505C>G (n.1402-10505C>G) c.2064C>G (p.Pro688=) c.2244C>G (p.Pro748=) c.1911C>G (p.Pro637=) | |
| 7 | g.117592321C>T | CA457449387 | CFTR | c.2154C>T (p.Pro718=) c.*1868C>T (n.*1868C>T) c.1971C>T (p.Pro657=) c.*454C>T (n.*454C>T) c.*1978C>T (n.*1978C>T) c.1728C>T (p.Pro576=) c.1402-10505C>T (n.1402-10505C>T) c.2064C>T (p.Pro688=) c.2244C>T (p.Pro748=) c.1911C>T (p.Pro637=) | ClinVar |
| 7 | g.117592322T>A | CA368980061 | CFTR | c.2155T>A (p.Leu719Ile) c.*1869T>A (n.*1869T>A) c.1972T>A (p.Leu658Ile) c.*455T>A (n.*455T>A) c.*1979T>A (n.*1979T>A) c.1729T>A (p.Leu577Ile) c.1402-10504T>A (n.1402-10504T>A) c.2065T>A (p.Leu689Ile) c.2245T>A (p.Leu749Ile) c.1912T>A (p.Leu638Ile) | |
| 7 | g.117592322T>C | CA457449388 | CFTR | c.2155T>C (p.Leu719=) c.*1869T>C (n.*1869T>C) c.1972T>C (p.Leu658=) c.*455T>C (n.*455T>C) c.*1979T>C (n.*1979T>C) c.1729T>C (p.Leu577=) c.1402-10504T>C (n.1402-10504T>C) c.2065T>C (p.Leu689=) c.2245T>C (p.Leu749=) c.1912T>C (p.Leu638=) | |
| 7 | g.117592322T>G | CA368980062 | CFTR | c.2155T>G (p.Leu719Val) c.*1869T>G (n.*1869T>G) c.1972T>G (p.Leu658Val) c.*455T>G (n.*455T>G) c.*1979T>G (n.*1979T>G) c.1729T>G (p.Leu577Val) c.1402-10504T>G (n.1402-10504T>G) c.2065T>G (p.Leu689Val) c.2245T>G (p.Leu749Val) c.1912T>G (p.Leu638Val) | |
| 7 | g.117592323T>A | CA326754 | CFTR | c.2156T>A (p.Leu719Ter) c.*1870T>A (n.*1870T>A) c.1973T>A (p.Leu658Ter) c.*456T>A (n.*456T>A) c.*1980T>A (n.*1980T>A) c.1730T>A (p.Leu577Ter) c.1402-10503T>A (n.1402-10503T>A) c.2066T>A (p.Leu689Ter) c.2246T>A (p.Leu749Ter) c.1913T>A (p.Leu638Ter) | ClinVar dbSNP |
| 7 | g.117592323T>C | CA368980077 | CFTR | c.2156T>C (p.Leu719Ser) c.*1870T>C (n.*1870T>C) c.1973T>C (p.Leu658Ser) c.*456T>C (n.*456T>C) c.*1980T>C (n.*1980T>C) c.1730T>C (p.Leu577Ser) c.1402-10503T>C (n.1402-10503T>C) c.2066T>C (p.Leu689Ser) c.2246T>C (p.Leu749Ser) c.1913T>C (p.Leu638Ser) |