| 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.117592548_117592617del | CA2695199624 | CFTR | c.2381_2450del (p.Val794AlafsTer4) c.*2095_*2164del (n.*2095_*2164del) c.2198_2267del (p.Val733AlafsTer4) c.*681_*750del (n.*681_*750del) c.*2205_*2274del (n.*2205_*2274del) c.1955_2024del (p.Val652AlafsTer4) c.31_100del c.1402-10278_1402-10209del (n.1402-10278_1402-10209del) c.2291_2360del (p.Val764AlafsTer4) c.2471_2540del (p.Val824AlafsTer4) c.2138_2207del (p.Val713AlafsTer4) | ClinVar |
| 7 | g.117592592T>A | CA368981233 | CFTR | c.2425T>A (p.Ser809Thr) c.*2139T>A (n.*2139T>A) c.2242T>A (p.Ser748Thr) c.*725T>A (n.*725T>A) c.*2249T>A (n.*2249T>A) c.1999T>A (p.Ser667Thr) c.16T>A (p.Ser6Thr) c.75T>A c.1402-10234T>A (n.1402-10234T>A) c.2335T>A (p.Ser779Thr) c.2515T>A (p.Ser839Thr) c.2182T>A (p.Ser728Thr) | |
| 7 | g.117592592T>C | CA368981235 | CFTR | c.2425T>C (p.Ser809Pro) c.*2139T>C (n.*2139T>C) c.2242T>C (p.Ser748Pro) c.*725T>C (n.*725T>C) c.*2249T>C (n.*2249T>C) c.1999T>C (p.Ser667Pro) c.16T>C (p.Ser6Pro) c.75T>C c.1402-10234T>C (n.1402-10234T>C) c.2335T>C (p.Ser779Pro) c.2515T>C (p.Ser839Pro) c.2182T>C (p.Ser728Pro) | |
| 7 | g.117592592T>G | CA368981236 | CFTR | c.2425T>G (p.Ser809Ala) c.*2139T>G (n.*2139T>G) c.2242T>G (p.Ser748Ala) c.*725T>G (n.*725T>G) c.*2249T>G (n.*2249T>G) c.1999T>G (p.Ser667Ala) c.16T>G (p.Ser6Ala) c.75T>G c.1402-10234T>G (n.1402-10234T>G) c.2335T>G (p.Ser779Ala) c.2515T>G (p.Ser839Ala) c.2182T>G (p.Ser728Ala) | |
| 7 | g.117592593C>A | CA368981237 | CFTR | c.2426C>A (p.Ser809Ter) c.*2140C>A (n.*2140C>A) c.2243C>A (p.Ser748Ter) c.*726C>A (n.*726C>A) c.*2250C>A (n.*2250C>A) c.2000C>A (p.Ser667Ter) c.17C>A (p.Ser6Ter) c.76C>A c.1402-10233C>A (n.1402-10233C>A) c.2336C>A (p.Ser779Ter) c.2516C>A (p.Ser839Ter) c.2183C>A (p.Ser728Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592593C= | CA1737395603 | CFTR | c.2426C= (p.Ser809=) c.*2140C= (n.*2140C=) c.2243C= (p.Ser748=) c.*726C= (n.*726C=) c.*2250C= (n.*2250C=) c.2000C= (p.Ser667=) c.17C= (p.Ser6=) c.76C= c.1402-10233C= (n.1402-10233C=) c.2336C= (p.Ser779=) c.2516C= (p.Ser839=) c.2183C= (p.Ser728=) | |
| 7 | g.117592593C>G | CA368981241 | CFTR | c.2426C>G (p.Ser809Ter) c.*2140C>G (n.*2140C>G) c.2243C>G (p.Ser748Ter) c.*726C>G (n.*726C>G) c.*2250C>G (n.*2250C>G) c.2000C>G (p.Ser667Ter) c.17C>G (p.Ser6Ter) c.76C>G c.1402-10233C>G (n.1402-10233C>G) c.2336C>G (p.Ser779Ter) c.2516C>G (p.Ser839Ter) c.2183C>G (p.Ser728Ter) | COSMIC |
| 7 | g.117592593C>T | CA368981239 | CFTR | c.2426C>T (p.Ser809Leu) c.*2140C>T (n.*2140C>T) c.2243C>T (p.Ser748Leu) c.*726C>T (n.*726C>T) c.*2250C>T (n.*2250C>T) c.2000C>T (p.Ser667Leu) c.17C>T (p.Ser6Leu) c.76C>T c.1402-10233C>T (n.1402-10233C>T) c.2336C>T (p.Ser779Leu) c.2516C>T (p.Ser839Leu) c.2183C>T (p.Ser728Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592593_117592596del | CA913111880 | CFTR | c.2426_2429del (p.Ser809Ter) c.*2140_*2143del (n.*2140_*2143del) c.2243_2246del (p.Ser748Ter) c.*726_*729del (n.*726_*729del) c.*2250_*2253del (n.*2250_*2253del) c.2000_2003del (p.Ser667Ter) c.17_20del (p.Ser6Ter) c.76_79del c.1402-10233_1402-10230del (n.1402-10233_1402-10230del) c.2336_2339del (p.Ser779Ter) c.2516_2519del (p.Ser839Ter) c.2183_2186del (p.Ser728Ter) | |
| 7 | g.117592593_117592596delinsCAAG | CA1737395606 | CFTR | c.2426_2429delinsCAAG (p.Ser809=) c.*2140_*2143delinsCAAG (n.*2140_*2143delinsCAAG) c.2243_2246delinsCAAG (p.Ser748=) c.*726_*729delinsCAAG (n.*726_*729delinsCAAG) c.*2250_*2253delinsCAAG (n.*2250_*2253delinsCAAG) c.2000_2003delinsCAAG (p.Ser667=) c.17_20delinsCAAG (p.Ser6=) c.76_79delinsCAAG c.1402-10233_1402-10230delinsCAAG (n.1402-10233_1402-10230delinsCAAG) c.2336_2339delinsCAAG (p.Ser779=) c.2516_2519delinsCAAG (p.Ser839=) c.2183_2186delinsCAAG (p.Ser728=) | |
| 7 | g.117592594A>C | CA457448957 | CFTR | c.2427A>C (p.Ser809=) c.*2141A>C (n.*2141A>C) c.2244A>C (p.Ser748=) c.*727A>C (n.*727A>C) c.*2251A>C (n.*2251A>C) c.2001A>C (p.Ser667=) c.18A>C (p.Ser6=) c.77A>C c.1402-10232A>C (n.1402-10232A>C) c.2337A>C (p.Ser779=) c.2517A>C (p.Ser839=) c.2184A>C (p.Ser728=) | |
| 7 | g.117592594A>G | CA457448958 | CFTR | c.2427A>G (p.Ser809=) c.*2141A>G (n.*2141A>G) c.2244A>G (p.Ser748=) c.*727A>G (n.*727A>G) c.*2251A>G (n.*2251A>G) c.2001A>G (p.Ser667=) c.18A>G (p.Ser6=) c.77A>G c.1402-10232A>G (n.1402-10232A>G) c.2337A>G (p.Ser779=) c.2517A>G (p.Ser839=) c.2184A>G (p.Ser728=) | gnomAD v4 |
| 7 | g.117592594A>T | CA457448959 | CFTR | c.2427A>T (p.Ser809=) c.*2141A>T (n.*2141A>T) c.2244A>T (p.Ser748=) c.*727A>T (n.*727A>T) c.*2251A>T (n.*2251A>T) c.2001A>T (p.Ser667=) c.18A>T (p.Ser6=) c.77A>T c.1402-10232A>T (n.1402-10232A>T) c.2337A>T (p.Ser779=) c.2517A>T (p.Ser839=) c.2184A>T (p.Ser728=) | ClinVar |
| 7 | g.117592597_117592599del | CA658822500 | CFTR | c.2430_2432del (p.Arg811del) c.*2144_*2146del (n.*2144_*2146del) c.2247_2249del (p.Arg750del) c.*730_*732del (n.*730_*732del) c.*2254_*2256del (n.*2254_*2256del) c.2004_2006del (p.Arg669del) c.21_23del (p.Arg8del) c.80_82del c.1402-10229_1402-10227del (n.1402-10229_1402-10227del) c.2340_2342del (p.Arg781del) c.2520_2522del (p.Arg841del) c.2187_2189del (p.Arg730del) | ClinVar dbSNP |
| 7 | g.117592595A= | CA1737395614 | CFTR | c.2428A= (p.Arg810=) c.*2142A= (n.*2142A=) c.2245A= (p.Arg749=) c.*728A= (n.*728A=) c.*2252A= (n.*2252A=) c.2002A= (p.Arg668=) c.19A= (p.Arg7=) c.78A= c.1402-10231A= (n.1402-10231A=) c.2338A= (p.Arg780=) c.2518A= (p.Arg840=) c.2185A= (p.Arg729=) | |
| 7 | g.117592595A>C | CA457448960 | CFTR | c.2428A>C (p.Arg810=) c.*2142A>C (n.*2142A>C) c.2245A>C (p.Arg749=) c.*728A>C (n.*728A>C) c.*2252A>C (n.*2252A>C) c.2002A>C (p.Arg668=) c.19A>C (p.Arg7=) c.78A>C c.1402-10231A>C (n.1402-10231A>C) c.2338A>C (p.Arg780=) c.2518A>C (p.Arg840=) c.2185A>C (p.Arg729=) | |
| 7 | g.117592595A>G | CA326815 | CFTR | c.2428A>G (p.Arg810Gly) c.*2142A>G (n.*2142A>G) c.2245A>G (p.Arg749Gly) c.*728A>G (n.*728A>G) c.*2252A>G (n.*2252A>G) c.2002A>G (p.Arg668Gly) c.19A>G (p.Arg7Gly) c.78A>G c.1402-10231A>G (n.1402-10231A>G) c.2338A>G (p.Arg780Gly) c.2518A>G (p.Arg840Gly) c.2185A>G (p.Arg729Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592595A>T | CA368981244 | CFTR | c.2428A>T (p.Arg810Ter) c.*2142A>T (n.*2142A>T) c.2245A>T (p.Arg749Ter) c.*728A>T (n.*728A>T) c.*2252A>T (n.*2252A>T) c.2002A>T (p.Arg668Ter) c.19A>T (p.Arg7Ter) c.78A>T c.1402-10231A>T (n.1402-10231A>T) c.2338A>T (p.Arg780Ter) c.2518A>T (p.Arg840Ter) c.2185A>T (p.Arg729Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592595_117592596delinsAG | CA1737395617 | CFTR | c.2428_2429delinsAG (p.Arg810=) c.*2142_*2143delinsAG (n.*2142_*2143delinsAG) c.2245_2246delinsAG (p.Arg749=) c.*728_*729delinsAG (n.*728_*729delinsAG) c.*2252_*2253delinsAG (n.*2252_*2253delinsAG) c.2002_2003delinsAG (p.Arg668=) c.19_20delinsAG (p.Arg7=) c.78_79delinsAG c.1402-10231_1402-10230delinsAG (n.1402-10231_1402-10230delinsAG) c.2338_2339delinsAG (p.Arg780=) c.2518_2519delinsAG (p.Arg840=) c.2185_2186delinsAG (p.Arg729=) | |
| 7 | g.117592595_117592596delinsGA | CA645541507 | CFTR | c.2428_2429delinsGA (p.Arg810Glu) c.*2142_*2143delinsGA (n.*2142_*2143delinsGA) c.2245_2246delinsGA (p.Arg749Glu) c.*728_*729delinsGA (n.*728_*729delinsGA) c.*2252_*2253delinsGA (n.*2252_*2253delinsGA) c.2002_2003delinsGA (p.Arg668Glu) c.19_20delinsGA (p.Arg7Glu) c.78_79delinsGA c.1402-10231_1402-10230delinsGA (n.1402-10231_1402-10230delinsGA) c.2338_2339delinsGA (p.Arg780Glu) c.2518_2519delinsGA (p.Arg840Glu) c.2185_2186delinsGA (p.Arg729Glu) | COSMIC |
| 7 | g.117592596del | CA16041130 | CFTR | c.2429del (p.Arg810LysfsTer11) c.*2143del (n.*2143del) c.2246del (p.Arg749LysfsTer11) c.*729del (n.*729del) c.*2253del (n.*2253del) c.2003del (p.Arg668LysfsTer11) c.20del (p.Arg7LysfsTer11) c.79del c.1402-10230del (n.1402-10230del) c.2339del (p.Arg780LysfsTer11) c.2519del (p.Arg840LysfsTer11) c.2186del (p.Arg729LysfsTer11) | ClinVar dbSNP |
| 7 | g.117592596G>A | CA368981245 | CFTR | c.2429G>A (p.Arg810Lys) c.*2143G>A (n.*2143G>A) c.2246G>A (p.Arg749Lys) c.*729G>A (n.*729G>A) c.*2253G>A (n.*2253G>A) c.2003G>A (p.Arg668Lys) c.20G>A (p.Arg7Lys) c.79G>A c.1402-10230G>A (n.1402-10230G>A) c.2339G>A (p.Arg780Lys) c.2519G>A (p.Arg840Lys) c.2186G>A (p.Arg729Lys) | gnomAD v4 |
| 7 | g.117592596G>C | CA368981247 | CFTR | c.2429G>C (p.Arg810Thr) c.*2143G>C (n.*2143G>C) c.2246G>C (p.Arg749Thr) c.*729G>C (n.*729G>C) c.*2253G>C (n.*2253G>C) c.2003G>C (p.Arg668Thr) c.20G>C (p.Arg7Thr) c.79G>C c.1402-10230G>C (n.1402-10230G>C) c.2339G>C (p.Arg780Thr) c.2519G>C (p.Arg840Thr) c.2186G>C (p.Arg729Thr) | |
| 7 | g.117592596G>T | CA368981248 | CFTR | c.2429G>T (p.Arg810Ile) c.*2143G>T (n.*2143G>T) c.2246G>T (p.Arg749Ile) c.*729G>T (n.*729G>T) c.*2253G>T (n.*2253G>T) c.2003G>T (p.Arg668Ile) c.20G>T (p.Arg7Ile) c.79G>T c.1402-10230G>T (n.1402-10230G>T) c.2339G>T (p.Arg780Ile) c.2519G>T (p.Arg840Ile) c.2186G>T (p.Arg729Ile) | |
| 7 | g.117592597A>C | CA368981250 | CFTR | c.2430A>C (p.Arg810Ser) c.*2144A>C (n.*2144A>C) c.2247A>C (p.Arg749Ser) c.*730A>C (n.*730A>C) c.*2254A>C (n.*2254A>C) c.2004A>C (p.Arg668Ser) c.21A>C (p.Arg7Ser) c.80A>C c.1402-10229A>C (n.1402-10229A>C) c.2340A>C (p.Arg780Ser) c.2520A>C (p.Arg840Ser) c.2187A>C (p.Arg729Ser) | |
| 7 | g.117592597A>G | CA457448961 | CFTR | c.2430A>G (p.Arg810=) c.*2144A>G (n.*2144A>G) c.2247A>G (p.Arg749=) c.*730A>G (n.*730A>G) c.*2254A>G (n.*2254A>G) c.2004A>G (p.Arg668=) c.21A>G (p.Arg7=) c.80A>G c.1402-10229A>G (n.1402-10229A>G) c.2340A>G (p.Arg780=) c.2520A>G (p.Arg840=) c.2187A>G (p.Arg729=) | |
| 7 | g.117592597A>T | CA368981251 | CFTR | c.2430A>T (p.Arg810Ser) c.*2144A>T (n.*2144A>T) c.2247A>T (p.Arg749Ser) c.*730A>T (n.*730A>T) c.*2254A>T (n.*2254A>T) c.2004A>T (p.Arg668Ser) c.21A>T (p.Arg7Ser) c.80A>T c.1402-10229A>T (n.1402-10229A>T) c.2340A>T (p.Arg780Ser) c.2520A>T (p.Arg840Ser) c.2187A>T (p.Arg729Ser) | ClinVar gnomAD v4 |
| 7 | g.117592598A>C | CA457448962 | CFTR | c.2431A>C (p.Arg811=) c.*2145A>C (n.*2145A>C) c.2248A>C (p.Arg750=) c.*731A>C (n.*731A>C) c.*2255A>C (n.*2255A>C) c.2005A>C (p.Arg669=) c.22A>C (p.Arg8=) c.81A>C c.1402-10228A>C (n.1402-10228A>C) c.2341A>C (p.Arg781=) c.2521A>C (p.Arg841=) c.2188A>C (p.Arg730=) | |
| 7 | g.117592598A>G | CA368981253 | CFTR | c.2431A>G (p.Arg811Gly) c.*2145A>G (n.*2145A>G) c.2248A>G (p.Arg750Gly) c.*731A>G (n.*731A>G) c.*2255A>G (n.*2255A>G) c.2005A>G (p.Arg669Gly) c.22A>G (p.Arg8Gly) c.81A>G c.1402-10228A>G (n.1402-10228A>G) c.2341A>G (p.Arg781Gly) c.2521A>G (p.Arg841Gly) c.2188A>G (p.Arg730Gly) | gnomAD v4 |
| 7 | g.117592598A>T | CA368981255 | CFTR | c.2431A>T (p.Arg811Trp) c.*2145A>T (n.*2145A>T) c.2248A>T (p.Arg750Trp) c.*731A>T (n.*731A>T) c.*2255A>T (n.*2255A>T) c.2005A>T (p.Arg669Trp) c.22A>T (p.Arg8Trp) c.81A>T c.1402-10228A>T (n.1402-10228A>T) c.2341A>T (p.Arg781Trp) c.2521A>T (p.Arg841Trp) c.2188A>T (p.Arg730Trp) | |
| 7 | g.117592599G>A | CA368981259 | CFTR | c.2432G>A (p.Arg811Lys) c.*2146G>A (n.*2146G>A) c.2249G>A (p.Arg750Lys) c.*732G>A (n.*732G>A) c.*2256G>A (n.*2256G>A) c.2006G>A (p.Arg669Lys) c.23G>A (p.Arg8Lys) c.82G>A c.1402-10227G>A (n.1402-10227G>A) c.2342G>A (p.Arg781Lys) c.2522G>A (p.Arg841Lys) c.2189G>A (p.Arg730Lys) | dbSNP |
| 7 | g.117592599G>C | CA368981261 | CFTR | c.2432G>C (p.Arg811Thr) c.*2146G>C (n.*2146G>C) c.2249G>C (p.Arg750Thr) c.*732G>C (n.*732G>C) c.*2256G>C (n.*2256G>C) c.2006G>C (p.Arg669Thr) c.23G>C (p.Arg8Thr) c.82G>C c.1402-10227G>C (n.1402-10227G>C) c.2342G>C (p.Arg781Thr) c.2522G>C (p.Arg841Thr) c.2189G>C (p.Arg730Thr) | |
| 7 | g.117592599G= | CA1737395622 | CFTR | c.2432G= (p.Arg811=) c.*2146G= (n.*2146G=) c.2249G= (p.Arg750=) c.*732G= (n.*732G=) c.*2256G= (n.*2256G=) c.2006G= (p.Arg669=) c.23G= (p.Arg8=) c.82G= c.1402-10227G= (n.1402-10227G=) c.2342G= (p.Arg781=) c.2522G= (p.Arg841=) c.2189G= (p.Arg730=) | |
| 7 | g.117592599G>T | CA368981264 | CFTR | c.2432G>T (p.Arg811Met) c.*2146G>T (n.*2146G>T) c.2249G>T (p.Arg750Met) c.*732G>T (n.*732G>T) c.*2256G>T (n.*2256G>T) c.2006G>T (p.Arg669Met) c.23G>T (p.Arg8Met) c.82G>T c.1402-10227G>T (n.1402-10227G>T) c.2342G>T (p.Arg781Met) c.2522G>T (p.Arg841Met) c.2189G>T (p.Arg730Met) | |
| 7 | g.117592600G>A | CA457448963 | CFTR | c.2433G>A (p.Arg811=) c.*2147G>A (n.*2147G>A) c.2250G>A (p.Arg750=) c.*733G>A (n.*733G>A) c.*2257G>A (n.*2257G>A) c.2007G>A (p.Arg669=) c.24G>A (p.Arg8=) c.83G>A c.1402-10226G>A (n.1402-10226G>A) c.2343G>A (p.Arg781=) c.2523G>A (p.Arg841=) c.2190G>A (p.Arg730=) | |
| 7 | g.117592600G>C | CA368981269 | CFTR | c.2433G>C (p.Arg811Ser) c.*2147G>C (n.*2147G>C) c.2250G>C (p.Arg750Ser) c.*733G>C (n.*733G>C) c.*2257G>C (n.*2257G>C) c.2007G>C (p.Arg669Ser) c.24G>C (p.Arg8Ser) c.83G>C c.1402-10226G>C (n.1402-10226G>C) c.2343G>C (p.Arg781Ser) c.2523G>C (p.Arg841Ser) c.2190G>C (p.Arg730Ser) | |
| 7 | g.117592600G= | CA1737395626 | CFTR | c.2433G= (p.Arg811=) c.*2147G= (n.*2147G=) c.2250G= (p.Arg750=) c.*733G= (n.*733G=) c.*2257G= (n.*2257G=) c.2007G= (p.Arg669=) c.24G= (p.Arg8=) c.83G= c.1402-10226G= (n.1402-10226G=) c.2343G= (p.Arg781=) c.2523G= (p.Arg841=) c.2190G= (p.Arg730=) | |
| 7 | g.117592600G>T | CA4451182 | CFTR | c.2433G>T (p.Arg811Ser) c.*2147G>T (n.*2147G>T) c.2250G>T (p.Arg750Ser) c.*733G>T (n.*733G>T) c.*2257G>T (n.*2257G>T) c.2007G>T (p.Arg669Ser) c.24G>T (p.Arg8Ser) c.83G>T c.1402-10226G>T (n.1402-10226G>T) c.2343G>T (p.Arg781Ser) c.2523G>T (p.Arg841Ser) c.2190G>T (p.Arg730Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592601T>A | CA368981274 | CFTR | c.2434T>A (p.Leu812Ile) c.*2148T>A (n.*2148T>A) c.2251T>A (p.Leu751Ile) c.*734T>A (n.*734T>A) c.*2258T>A (n.*2258T>A) c.2008T>A (p.Leu670Ile) c.25T>A (p.Leu9Ile) c.84T>A c.1402-10225T>A (n.1402-10225T>A) c.2344T>A (p.Leu782Ile) c.2524T>A (p.Leu842Ile) c.2191T>A (p.Leu731Ile) | ClinVar |
| 7 | g.117592601T>C | CA457448964 | CFTR | c.2434T>C (p.Leu812=) c.*2148T>C (n.*2148T>C) c.2251T>C (p.Leu751=) c.*734T>C (n.*734T>C) c.*2258T>C (n.*2258T>C) c.2008T>C (p.Leu670=) c.25T>C (p.Leu9=) c.84T>C c.1402-10225T>C (n.1402-10225T>C) c.2344T>C (p.Leu782=) c.2524T>C (p.Leu842=) c.2191T>C (p.Leu731=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592601T>G | CA368981276 | CFTR | c.2434T>G (p.Leu812Val) c.*2148T>G (n.*2148T>G) c.2251T>G (p.Leu751Val) c.*734T>G (n.*734T>G) c.*2258T>G (n.*2258T>G) c.2008T>G (p.Leu670Val) c.25T>G (p.Leu9Val) c.84T>G c.1402-10225T>G (n.1402-10225T>G) c.2344T>G (p.Leu782Val) c.2524T>G (p.Leu842Val) c.2191T>G (p.Leu731Val) | |
| 7 | g.117592601T= | CA1737395632 | CFTR | c.2434T= (p.Leu812=) c.*2148T= (n.*2148T=) c.2251T= (p.Leu751=) c.*734T= (n.*734T=) c.*2258T= (n.*2258T=) c.2008T= (p.Leu670=) c.25T= (p.Leu9=) c.84T= c.1402-10225T= (n.1402-10225T=) c.2344T= (p.Leu782=) c.2524T= (p.Leu842=) c.2191T= (p.Leu731=) | |
| 7 | g.117592602dup | CA326817 | CFTR | c.2435dup (p.Leu812PhefsTer11) c.*2149dup (n.*2149dup) c.2252dup (p.Leu751PhefsTer11) c.*735dup (n.*735dup) c.*2259dup (n.*2259dup) c.2009dup (p.Leu670PhefsTer11) c.26dup (p.Leu9PhefsTer11) c.85dup c.1402-10224dup (n.1402-10224dup) c.2345dup (p.Leu782PhefsTer11) c.2525dup (p.Leu842PhefsTer11) c.2192dup (p.Leu731PhefsTer11) | ClinVar dbSNP |
| 7 | g.117592601_117592602dup | CA2695208522 | CFTR | c.2434_2435dup (p.Leu812PhefsTer10) c.*2148_*2149dup (n.*2148_*2149dup) c.2251_2252dup (p.Leu751PhefsTer10) c.*734_*735dup (n.*734_*735dup) c.*2258_*2259dup (n.*2258_*2259dup) c.2008_2009dup (p.Leu670PhefsTer10) c.25_26dup (p.Leu9PhefsTer10) c.84_85dup c.1402-10225_1402-10224dup (n.1402-10225_1402-10224dup) c.2344_2345dup (p.Leu782PhefsTer10) c.2524_2525dup (p.Leu842PhefsTer10) c.2191_2192dup (p.Leu731PhefsTer10) | |
| 7 | g.117592602T>A | CA368981280 | CFTR | c.2435T>A (p.Leu812Ter) c.*2149T>A (n.*2149T>A) c.2252T>A (p.Leu751Ter) c.*735T>A (n.*735T>A) c.*2259T>A (n.*2259T>A) c.2009T>A (p.Leu670Ter) c.26T>A (p.Leu9Ter) c.85T>A c.1402-10224T>A (n.1402-10224T>A) c.2345T>A (p.Leu782Ter) c.2525T>A (p.Leu842Ter) c.2192T>A (p.Leu731Ter) | |
| 7 | g.117592602T>C | CA368981283 | CFTR | c.2435T>C (p.Leu812Ser) c.*2149T>C (n.*2149T>C) c.2252T>C (p.Leu751Ser) c.*735T>C (n.*735T>C) c.*2259T>C (n.*2259T>C) c.2009T>C (p.Leu670Ser) c.26T>C (p.Leu9Ser) c.85T>C c.1402-10224T>C (n.1402-10224T>C) c.2345T>C (p.Leu782Ser) c.2525T>C (p.Leu842Ser) c.2192T>C (p.Leu731Ser) | |
| 7 | g.117592602T>G | CA368981285 | CFTR | c.2435T>G (p.Leu812Ter) c.*2149T>G (n.*2149T>G) c.2252T>G (p.Leu751Ter) c.*735T>G (n.*735T>G) c.*2259T>G (n.*2259T>G) c.2009T>G (p.Leu670Ter) c.26T>G (p.Leu9Ter) c.85T>G c.1402-10224T>G (n.1402-10224T>G) c.2345T>G (p.Leu782Ter) c.2525T>G (p.Leu842Ter) c.2192T>G (p.Leu731Ter) | |
| 7 | g.117592603A>C | CA368981290 | CFTR | c.2436A>C (p.Leu812Phe) c.*2150A>C (n.*2150A>C) c.2253A>C (p.Leu751Phe) c.*736A>C (n.*736A>C) c.*2260A>C (n.*2260A>C) c.2010A>C (p.Leu670Phe) c.27A>C (p.Leu9Phe) c.86A>C c.1402-10223A>C (n.1402-10223A>C) c.2346A>C (p.Leu782Phe) c.2526A>C (p.Leu842Phe) c.2193A>C (p.Leu731Phe) | |
| 7 | g.117592603A>G | CA457448965 | CFTR | c.2436A>G (p.Leu812=) c.*2150A>G (n.*2150A>G) c.2253A>G (p.Leu751=) c.*736A>G (n.*736A>G) c.*2260A>G (n.*2260A>G) c.2010A>G (p.Leu670=) c.27A>G (p.Leu9=) c.86A>G c.1402-10223A>G (n.1402-10223A>G) c.2346A>G (p.Leu782=) c.2526A>G (p.Leu842=) c.2193A>G (p.Leu731=) | ClinVar gnomAD v4 |