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.117593484_117599275del | CA2580076573 | CFTR | c.2490+827_2620-3551del c.*2204+827_*2334-3551del c.2307+827_2437-3551del c.*790+827_*920-3551del c.*2314+827_*2444-3551del c.2064+827_2194-3551del c.81+827_211-3551del c.140+827_270-3551del c.1402-9342_1402-3551del (n.1402-9342_1402-3551del) c.2400+827_2530-3551del c.2580+827_2710-3551del c.2247+827_2377-3551del | ClinVar |
7 | g.117593794_117597288del | CA1139660206 | CFTR | c.2491-1136_2619+2230del c.*2205-1136_*2333+2230del c.2308-1136_2436+2230del c.*791-1136_*919+2230del c.*2315-1136_*2443+2230del c.2065-1136_2193+2230del c.82-1136_210+2230del c.141-1136_269+2230del c.1402-9032_1402-5538del (n.1402-9032_1402-5538del) c.2401-1136_2529+2230del c.2581-1136_2709+2230del c.2248-1136_2376+2230del | ClinVar |
7 | g.117594923T>A | CA2580076579 | CFTR | c.2491-7T>A (n.2491-7T>A) c.*2205-7T>A (n.*2205-7T>A) c.2308-7T>A (n.2308-7T>A) c.*791-7T>A (n.*791-7T>A) c.*2315-7T>A (n.*2315-7T>A) c.2065-7T>A (n.2065-7T>A) c.82-7T>A (n.82-7T>A) c.141-7T>A c.1402-7903T>A (n.1402-7903T>A) c.2401-7T>A (n.2401-7T>A) c.2581-7T>A (n.2581-7T>A) c.2248-7T>A (n.2248-7T>A) | ClinVar |
7 | g.117594925T>C | CA2580076580 | CFTR | c.2491-5T>C (n.2491-5T>C) c.*2205-5T>C (n.*2205-5T>C) c.2308-5T>C (n.2308-5T>C) c.*791-5T>C (n.*791-5T>C) c.*2315-5T>C (n.*2315-5T>C) c.2065-5T>C (n.2065-5T>C) c.82-5T>C (n.82-5T>C) c.141-5T>C c.1402-7901T>C (n.1402-7901T>C) c.2401-5T>C (n.2401-5T>C) c.2581-5T>C (n.2581-5T>C) c.2248-5T>C (n.2248-5T>C) | ClinVar gnomAD v4 |
7 | g.117594926T>A | CA4451212 | CFTR | c.2491-4T>A (n.2491-4T>A) c.*2205-4T>A (n.*2205-4T>A) c.2308-4T>A (n.2308-4T>A) c.*791-4T>A (n.*791-4T>A) c.*2315-4T>A (n.*2315-4T>A) c.2065-4T>A (n.2065-4T>A) c.82-4T>A (n.82-4T>A) c.141-4T>A c.1402-7900T>A (n.1402-7900T>A) c.2401-4T>A (n.2401-4T>A) c.2581-4T>A (n.2581-4T>A) c.2248-4T>A (n.2248-4T>A) | dbSNP ExAC gnomAD v4 |
7 | g.117594926T= | CA1737397629 | CFTR | c.2491-4T= (n.2491-4T=) c.*2205-4T= (n.*2205-4T=) c.2308-4T= (n.2308-4T=) c.*791-4T= (n.*791-4T=) c.*2315-4T= (n.*2315-4T=) c.2065-4T= (n.2065-4T=) c.82-4T= (n.82-4T=) c.141-4T= c.1402-7900T= (n.1402-7900T=) c.2401-4T= (n.2401-4T=) c.2581-4T= (n.2581-4T=) c.2248-4T= (n.2248-4T=) | |
7 | g.117594927_117595056delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG | CA1737397630 | CFTR | c.2491-3_2617delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.*2205-3_*2331delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.2308-3_2434delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.*791-3_*917delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.*2315-3_*2441delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.2065-3_2191delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.82-3_208delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.141-3_267delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.1402-7899_1402-7770delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG (n.1402-7899_1402-7770delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG) c.2401-3_2527delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.2581-3_2707delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.2248-3_2374delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG | |
7 | g.117594928A= | CA1737397637 | CFTR | c.2491-2A= (n.2491-2A=) c.*2205-2A= (n.*2205-2A=) c.2308-2A= (n.2308-2A=) c.*791-2A= (n.*791-2A=) c.*2315-2A= (n.*2315-2A=) c.2065-2A= (n.2065-2A=) c.82-2A= (n.82-2A=) c.141-2A= c.1402-7898A= (n.1402-7898A=) c.2401-2A= (n.2401-2A=) c.2581-2A= (n.2581-2A=) c.2248-2A= (n.2248-2A=) | |
7 | g.117594928A>C | CA368983756 | CFTR | c.2491-2A>C (n.2491-2A>C) c.*2205-2A>C (n.*2205-2A>C) c.2308-2A>C (n.2308-2A>C) c.*791-2A>C (n.*791-2A>C) c.*2315-2A>C (n.*2315-2A>C) c.2065-2A>C (n.2065-2A>C) c.82-2A>C (n.82-2A>C) c.141-2A>C c.1402-7898A>C (n.1402-7898A>C) c.2401-2A>C (n.2401-2A>C) c.2581-2A>C (n.2581-2A>C) c.2248-2A>C (n.2248-2A>C) | ClinVar dbSNP |
7 | g.117594928A>G | CA326831 | CFTR | c.2491-2A>G (n.2491-2A>G) c.*2205-2A>G (n.*2205-2A>G) c.2308-2A>G (n.2308-2A>G) c.*791-2A>G (n.*791-2A>G) c.*2315-2A>G (n.*2315-2A>G) c.2065-2A>G (n.2065-2A>G) c.82-2A>G (n.82-2A>G) c.141-2A>G c.1402-7898A>G (n.1402-7898A>G) c.2401-2A>G (n.2401-2A>G) c.2581-2A>G (n.2581-2A>G) c.2248-2A>G (n.2248-2A>G) | dbSNP |
7 | g.117594928A>T | CA368983759 | CFTR | c.2491-2A>T (n.2491-2A>T) c.*2205-2A>T (n.*2205-2A>T) c.2308-2A>T (n.2308-2A>T) c.*791-2A>T (n.*791-2A>T) c.*2315-2A>T (n.*2315-2A>T) c.2065-2A>T (n.2065-2A>T) c.82-2A>T (n.82-2A>T) c.141-2A>T c.1402-7898A>T (n.1402-7898A>T) c.2401-2A>T (n.2401-2A>T) c.2581-2A>T (n.2581-2A>T) c.2248-2A>T (n.2248-2A>T) | |
7 | g.117594931_117595059del | CA913190196 | CFTR | c.2492_2619+1del c.*2206_*2333+1del c.2309_2436+1del c.*792_*919+1del c.*2316_*2443+1del c.2066_2193+1del c.83_210+1del c.142_269+1del c.1402-7895_1402-7767del (n.1402-7895_1402-7767del) c.2402_2529+1del c.2582_2709+1del c.2249_2376+1del | ClinVar dbSNP |
7 | g.117594929G>A | CA368983762 | CFTR | c.2491-1G>A (n.2491-1G>A) c.*2205-1G>A (n.*2205-1G>A) c.2308-1G>A (n.2308-1G>A) c.*791-1G>A (n.*791-1G>A) c.*2315-1G>A (n.*2315-1G>A) c.2065-1G>A (n.2065-1G>A) c.82-1G>A (n.82-1G>A) c.141-1G>A c.1402-7897G>A (n.1402-7897G>A) c.2401-1G>A (n.2401-1G>A) c.2581-1G>A (n.2581-1G>A) c.2248-1G>A (n.2248-1G>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117594929G>C | CA368983763 | CFTR | c.2491-1G>C (n.2491-1G>C) c.*2205-1G>C (n.*2205-1G>C) c.2308-1G>C (n.2308-1G>C) c.*791-1G>C (n.*791-1G>C) c.*2315-1G>C (n.*2315-1G>C) c.2065-1G>C (n.2065-1G>C) c.82-1G>C (n.82-1G>C) c.141-1G>C c.1402-7897G>C (n.1402-7897G>C) c.2401-1G>C (n.2401-1G>C) c.2581-1G>C (n.2581-1G>C) c.2248-1G>C (n.2248-1G>C) | |
7 | g.117594929G= | CA1737397644 | CFTR | c.2491-1G= (n.2491-1G=) c.*2205-1G= (n.*2205-1G=) c.2308-1G= (n.2308-1G=) c.*791-1G= (n.*791-1G=) c.*2315-1G= (n.*2315-1G=) c.2065-1G= (n.2065-1G=) c.82-1G= (n.82-1G=) c.141-1G= c.1402-7897G= (n.1402-7897G=) c.2401-1G= (n.2401-1G=) c.2581-1G= (n.2581-1G=) c.2248-1G= (n.2248-1G=) | |
7 | g.117594929G>T | CA368983764 | CFTR | c.2491-1G>T (n.2491-1G>T) c.*2205-1G>T (n.*2205-1G>T) c.2308-1G>T (n.2308-1G>T) c.*791-1G>T (n.*791-1G>T) c.*2315-1G>T (n.*2315-1G>T) c.2065-1G>T (n.2065-1G>T) c.82-1G>T (n.82-1G>T) c.141-1G>T c.1402-7897G>T (n.1402-7897G>T) c.2401-1G>T (n.2401-1G>T) c.2581-1G>T (n.2581-1G>T) c.2248-1G>T (n.2248-1G>T) | |
7 | g.117594930G>A | CA368983767 | CFTR | c.2491G>A (p.Glu831Lys) c.*2205G>A (n.*2205G>A) c.2308G>A (p.Glu770Lys) c.*791G>A (n.*791G>A) c.*2315G>A (n.*2315G>A) c.2065G>A (p.Glu689Lys) c.82G>A (p.Glu28Lys) c.141G>A c.1402-7896G>A (n.1402-7896G>A) c.2401G>A (p.Glu801Lys) c.2581G>A (p.Glu861Lys) c.2248G>A (p.Glu750Lys) | COSMIC |
7 | g.117594930G>C | CA368983768 | CFTR | c.2491G>C (p.Glu831Gln) c.*2205G>C (n.*2205G>C) c.2308G>C (p.Glu770Gln) c.*791G>C (n.*791G>C) c.*2315G>C (n.*2315G>C) c.2065G>C (p.Glu689Gln) c.82G>C (p.Glu28Gln) c.141G>C c.1402-7896G>C (n.1402-7896G>C) c.2401G>C (p.Glu801Gln) c.2581G>C (p.Glu861Gln) c.2248G>C (p.Glu750Gln) | COSMIC |
7 | g.117594930G= | CA1737397649 | CFTR | c.2491G= (p.Glu831=) c.*2205G= (n.*2205G=) c.2308G= (p.Glu770=) c.*791G= (n.*791G=) c.*2315G= (n.*2315G=) c.2065G= (p.Glu689=) c.82G= (p.Glu28=) c.141G= c.1402-7896G= (n.1402-7896G=) c.2401G= (p.Glu801=) c.2581G= (p.Glu861=) c.2248G= (p.Glu750=) | |
7 | g.117594930G>T | CA345311 | CFTR | c.2491G>T (p.Glu831Ter) c.*2205G>T (n.*2205G>T) c.2308G>T (p.Glu770Ter) c.*791G>T (n.*791G>T) c.*2315G>T (n.*2315G>T) c.2065G>T (p.Glu689Ter) c.82G>T (p.Glu28Ter) c.141G>T c.1402-7896G>T (n.1402-7896G>T) c.2401G>T (p.Glu801Ter) c.2581G>T (p.Glu861Ter) c.2248G>T (p.Glu750Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117594931A= | CA1737397656 | CFTR | c.2492A= (p.Glu831=) c.*2206A= (n.*2206A=) c.2309A= (p.Glu770=) c.*792A= (n.*792A=) c.*2316A= (n.*2316A=) c.2066A= (p.Glu689=) c.83A= (p.Glu28=) c.142A= c.1402-7895A= (n.1402-7895A=) c.2402A= (p.Glu801=) c.2582A= (p.Glu861=) c.2249A= (p.Glu750=) | |
7 | g.117594931A>C | CA368983773 | CFTR | c.2492A>C (p.Glu831Ala) c.*2206A>C (n.*2206A>C) c.2309A>C (p.Glu770Ala) c.*792A>C (n.*792A>C) c.*2316A>C (n.*2316A>C) c.2066A>C (p.Glu689Ala) c.83A>C (p.Glu28Ala) c.142A>C c.1402-7895A>C (n.1402-7895A>C) c.2402A>C (p.Glu801Ala) c.2582A>C (p.Glu861Ala) c.2249A>C (p.Glu750Ala) | |
7 | g.117594931A>G | CA164949594 | CFTR | c.2492A>G (p.Glu831Gly) c.*2206A>G (n.*2206A>G) c.2309A>G (p.Glu770Gly) c.*792A>G (n.*792A>G) c.*2316A>G (n.*2316A>G) c.2066A>G (p.Glu689Gly) c.83A>G (p.Glu28Gly) c.142A>G c.1402-7895A>G (n.1402-7895A>G) c.2402A>G (p.Glu801Gly) c.2582A>G (p.Glu861Gly) c.2249A>G (p.Glu750Gly) | dbSNP gnomAD v4 |
7 | g.117594931A>T | CA368983772 | CFTR | c.2492A>T (p.Glu831Val) c.*2206A>T (n.*2206A>T) c.2309A>T (p.Glu770Val) c.*792A>T (n.*792A>T) c.*2316A>T (n.*2316A>T) c.2066A>T (p.Glu689Val) c.83A>T (p.Glu28Val) c.142A>T c.1402-7895A>T (n.1402-7895A>T) c.2402A>T (p.Glu801Val) c.2582A>T (p.Glu861Val) c.2249A>T (p.Glu750Val) | |
7 | g.117594932G>A | CA457227558 | CFTR | c.2493G>A (p.Glu831=) c.*2207G>A (n.*2207G>A) c.2310G>A (p.Glu770=) c.*793G>A (n.*793G>A) c.*2317G>A (n.*2317G>A) c.2067G>A (p.Glu689=) c.84G>A (p.Glu28=) c.143G>A c.1402-7894G>A (n.1402-7894G>A) c.2403G>A (p.Glu801=) c.2583G>A (p.Glu861=) c.2250G>A (p.Glu750=) | ClinVar dbSNP gnomAD v4 |
7 | g.117594932G>C | CA368983775 | CFTR | c.2493G>C (p.Glu831Asp) c.*2207G>C (n.*2207G>C) c.2310G>C (p.Glu770Asp) c.*793G>C (n.*793G>C) c.*2317G>C (n.*2317G>C) c.2067G>C (p.Glu689Asp) c.84G>C (p.Glu28Asp) c.143G>C c.1402-7894G>C (n.1402-7894G>C) c.2403G>C (p.Glu801Asp) c.2583G>C (p.Glu861Asp) c.2250G>C (p.Glu750Asp) | |
7 | g.117594932G= | CA1737397659 | CFTR | c.2493G= (p.Glu831=) c.*2207G= (n.*2207G=) c.2310G= (p.Glu770=) c.*793G= (n.*793G=) c.*2317G= (n.*2317G=) c.2067G= (p.Glu689=) c.84G= (p.Glu28=) c.143G= c.1402-7894G= (n.1402-7894G=) c.2403G= (p.Glu801=) c.2583G= (p.Glu861=) c.2250G= (p.Glu750=) | |
7 | g.117594932G>T | CA368983777 | CFTR | c.2493G>T (p.Glu831Asp) c.*2207G>T (n.*2207G>T) c.2310G>T (p.Glu770Asp) c.*793G>T (n.*793G>T) c.*2317G>T (n.*2317G>T) c.2067G>T (p.Glu689Asp) c.84G>T (p.Glu28Asp) c.143G>T c.1402-7894G>T (n.1402-7894G>T) c.2403G>T (p.Glu801Asp) c.2583G>T (p.Glu861Asp) c.2250G>T (p.Glu750Asp) | ClinVar dbSNP gnomAD v4 |
7 | g.117594933T>A | CA164949600 | CFTR | c.2494T>A (p.Cys832Ser) c.*2208T>A (n.*2208T>A) c.2311T>A (p.Cys771Ser) c.*794T>A (n.*794T>A) c.*2318T>A (n.*2318T>A) c.2068T>A (p.Cys690Ser) c.85T>A (p.Cys29Ser) c.144T>A c.1402-7893T>A (n.1402-7893T>A) c.2404T>A (p.Cys802Ser) c.2584T>A (p.Cys862Ser) c.2251T>A (p.Cys751Ser) | dbSNP |
7 | g.117594933T>C | CA368983780 | CFTR | c.2494T>C (p.Cys832Arg) c.*2208T>C (n.*2208T>C) c.2311T>C (p.Cys771Arg) c.*794T>C (n.*794T>C) c.*2318T>C (n.*2318T>C) c.2068T>C (p.Cys690Arg) c.85T>C (p.Cys29Arg) c.144T>C c.1402-7893T>C (n.1402-7893T>C) c.2404T>C (p.Cys802Arg) c.2584T>C (p.Cys862Arg) c.2251T>C (p.Cys751Arg) | |
7 | g.117594933T>G | CA368983782 | CFTR | c.2494T>G (p.Cys832Gly) c.*2208T>G (n.*2208T>G) c.2311T>G (p.Cys771Gly) c.*794T>G (n.*794T>G) c.*2318T>G (n.*2318T>G) c.2068T>G (p.Cys690Gly) c.85T>G (p.Cys29Gly) c.144T>G c.1402-7893T>G (n.1402-7893T>G) c.2404T>G (p.Cys802Gly) c.2584T>G (p.Cys862Gly) c.2251T>G (p.Cys751Gly) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.117594933T= | CA1737397663 | CFTR | c.2494T= (p.Cys832=) c.*2208T= (n.*2208T=) c.2311T= (p.Cys771=) c.*794T= (n.*794T=) c.*2318T= (n.*2318T=) c.2068T= (p.Cys690=) c.85T= (p.Cys29=) c.144T= c.1402-7893T= (n.1402-7893T=) c.2404T= (p.Cys802=) c.2584T= (p.Cys862=) c.2251T= (p.Cys751=) | |
7 | g.117594934G>A | CA4451213 | CFTR | c.2495G>A (p.Cys832Tyr) c.*2209G>A (n.*2209G>A) c.2312G>A (p.Cys771Tyr) c.*795G>A (n.*795G>A) c.*2319G>A (n.*2319G>A) c.2069G>A (p.Cys690Tyr) c.86G>A (p.Cys29Tyr) c.145G>A c.1402-7892G>A (n.1402-7892G>A) c.2405G>A (p.Cys802Tyr) c.2585G>A (p.Cys862Tyr) c.2252G>A (p.Cys751Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117594934G>C | CA368983784 | CFTR | c.2495G>C (p.Cys832Ser) c.*2209G>C (n.*2209G>C) c.2312G>C (p.Cys771Ser) c.*795G>C (n.*795G>C) c.*2319G>C (n.*2319G>C) c.2069G>C (p.Cys690Ser) c.86G>C (p.Cys29Ser) c.145G>C c.1402-7892G>C (n.1402-7892G>C) c.2405G>C (p.Cys802Ser) c.2585G>C (p.Cys862Ser) c.2252G>C (p.Cys751Ser) | gnomAD v4 |
7 | g.117594934G= | CA1737397666 | CFTR | c.2495G= (p.Cys832=) c.*2209G= (n.*2209G=) c.2312G= (p.Cys771=) c.*795G= (n.*795G=) c.*2319G= (n.*2319G=) c.2069G= (p.Cys690=) c.86G= (p.Cys29=) c.145G= c.1402-7892G= (n.1402-7892G=) c.2405G= (p.Cys802=) c.2585G= (p.Cys862=) c.2252G= (p.Cys751=) | |
7 | g.117594934G>T | CA368983786 | CFTR | c.2495G>T (p.Cys832Phe) c.*2209G>T (n.*2209G>T) c.2312G>T (p.Cys771Phe) c.*795G>T (n.*795G>T) c.*2319G>T (n.*2319G>T) c.2069G>T (p.Cys690Phe) c.86G>T (p.Cys29Phe) c.145G>T c.1402-7892G>T (n.1402-7892G>T) c.2405G>T (p.Cys802Phe) c.2585G>T (p.Cys862Phe) c.2252G>T (p.Cys751Phe) | |
7 | g.117594935C>A | CA326832 | CFTR | c.2496C>A (p.Cys832Ter) c.*2210C>A (n.*2210C>A) c.2313C>A (p.Cys771Ter) c.*796C>A (n.*796C>A) c.*2320C>A (n.*2320C>A) c.2070C>A (p.Cys690Ter) c.87C>A (p.Cys29Ter) c.146C>A c.1402-7891C>A (n.1402-7891C>A) c.2406C>A (p.Cys802Ter) c.2586C>A (p.Cys862Ter) c.2253C>A (p.Cys751Ter) | ClinVar dbSNP |
7 | g.117594935C= | CA1737397670 | CFTR | c.2496C= (p.Cys832=) c.*2210C= (n.*2210C=) c.2313C= (p.Cys771=) c.*796C= (n.*796C=) c.*2320C= (n.*2320C=) c.2070C= (p.Cys690=) c.87C= (p.Cys29=) c.146C= c.1402-7891C= (n.1402-7891C=) c.2406C= (p.Cys802=) c.2586C= (p.Cys862=) c.2253C= (p.Cys751=) | |
7 | g.117594935C>G | CA368983790 | CFTR | c.2496C>G (p.Cys832Trp) c.*2210C>G (n.*2210C>G) c.2313C>G (p.Cys771Trp) c.*796C>G (n.*796C>G) c.*2320C>G (n.*2320C>G) c.2070C>G (p.Cys690Trp) c.87C>G (p.Cys29Trp) c.146C>G c.1402-7891C>G (n.1402-7891C>G) c.2406C>G (p.Cys802Trp) c.2586C>G (p.Cys862Trp) c.2253C>G (p.Cys751Trp) | |
7 | g.117594935C>T | CA457227559 | CFTR | c.2496C>T (p.Cys832=) c.*2210C>T (n.*2210C>T) c.2313C>T (p.Cys771=) c.*796C>T (n.*796C>T) c.*2320C>T (n.*2320C>T) c.2070C>T (p.Cys690=) c.87C>T (p.Cys29=) c.146C>T c.1402-7891C>T (n.1402-7891C>T) c.2406C>T (p.Cys802=) c.2586C>T (p.Cys862=) c.2253C>T (p.Cys751=) | ClinVar dbSNP gnomAD v4 |
7 | g.117594935_117594936delinsCT | CA1737397673 | CFTR | c.2496_2497delinsCT (p.Cys832=) c.*2210_*2211delinsCT (n.*2210_*2211delinsCT) c.2313_2314delinsCT (p.Cys771=) c.*796_*797delinsCT (n.*796_*797delinsCT) c.*2320_*2321delinsCT (n.*2320_*2321delinsCT) c.2070_2071delinsCT (p.Cys690=) c.87_88delinsCT (p.Cys29=) c.146_147delinsCT c.1402-7891_1402-7890delinsCT (n.1402-7891_1402-7890delinsCT) c.2406_2407delinsCT (p.Cys802=) c.2586_2587delinsCT (p.Cys862=) c.2253_2254delinsCT (p.Cys751=) | |
7 | g.117594936T>A | CA368983792 | CFTR | c.2497T>A (p.Phe833Ile) c.*2211T>A (n.*2211T>A) c.2314T>A (p.Phe772Ile) c.*797T>A (n.*797T>A) c.*2321T>A (n.*2321T>A) c.2071T>A (p.Phe691Ile) c.88T>A (p.Phe30Ile) c.147T>A c.1402-7890T>A (n.1402-7890T>A) c.2407T>A (p.Phe803Ile) c.2587T>A (p.Phe863Ile) c.2254T>A (p.Phe752Ile) | |
7 | g.117594936T>C | CA368983794 | CFTR | c.2497T>C (p.Phe833Leu) c.*2211T>C (n.*2211T>C) c.2314T>C (p.Phe772Leu) c.*797T>C (n.*797T>C) c.*2321T>C (n.*2321T>C) c.2071T>C (p.Phe691Leu) c.88T>C (p.Phe30Leu) c.147T>C c.1402-7890T>C (n.1402-7890T>C) c.2407T>C (p.Phe803Leu) c.2587T>C (p.Phe863Leu) c.2254T>C (p.Phe752Leu) | COSMIC |
7 | g.117594936T>G | CA368983795 | CFTR | c.2497T>G (p.Phe833Val) c.*2211T>G (n.*2211T>G) c.2314T>G (p.Phe772Val) c.*797T>G (n.*797T>G) c.*2321T>G (n.*2321T>G) c.2071T>G (p.Phe691Val) c.88T>G (p.Phe30Val) c.147T>G c.1402-7890T>G (n.1402-7890T>G) c.2407T>G (p.Phe803Val) c.2587T>G (p.Phe863Val) c.2254T>G (p.Phe752Val) | |
7 | g.117594941dup | CA326834 | CFTR | c.2502dup (p.Asp835Ter) c.*2216dup (n.*2216dup) c.2319dup (p.Asp774Ter) c.*802dup (n.*802dup) c.*2326dup (n.*2326dup) c.2076dup (p.Asp693Ter) c.93dup (p.Asp32Ter) c.152dup c.1402-7885dup (n.1402-7885dup) c.2412dup (p.Asp805Ter) c.2592dup (p.Asp865Ter) c.2259dup (p.Asp754Ter) | ClinVar dbSNP gnomAD v2 |
7 | g.117594941del | CA326835 | CFTR | c.2502del (p.Phe834LeufsTer10) c.*2216del (n.*2216del) c.2319del (p.Phe773LeufsTer10) c.*802del (n.*802del) c.*2326del (n.*2326del) c.2076del (p.Phe692LeufsTer10) c.93del (p.Phe31LeufsTer10) c.152del c.1402-7885del (n.1402-7885del) c.2412del (p.Phe804LeufsTer10) c.2592del (p.Phe864LeufsTer10) c.2259del (p.Phe753LeufsTer10) | ClinVar dbSNP gnomAD v4 |
7 | g.117594937T>A | CA368983797 | CFTR | c.2498T>A (p.Phe833Tyr) c.*2212T>A (n.*2212T>A) c.2315T>A (p.Phe772Tyr) c.*798T>A (n.*798T>A) c.*2322T>A (n.*2322T>A) c.2072T>A (p.Phe691Tyr) c.89T>A (p.Phe30Tyr) c.148T>A c.1402-7889T>A (n.1402-7889T>A) c.2408T>A (p.Phe803Tyr) c.2588T>A (p.Phe863Tyr) c.2255T>A (p.Phe752Tyr) | |
7 | g.117594937T>C | CA368983800 | CFTR | c.2498T>C (p.Phe833Ser) c.*2212T>C (n.*2212T>C) c.2315T>C (p.Phe772Ser) c.*798T>C (n.*798T>C) c.*2322T>C (n.*2322T>C) c.2072T>C (p.Phe691Ser) c.89T>C (p.Phe30Ser) c.148T>C c.1402-7889T>C (n.1402-7889T>C) c.2408T>C (p.Phe803Ser) c.2588T>C (p.Phe863Ser) c.2255T>C (p.Phe752Ser) | |
7 | g.117594937T>G | CA368983799 | CFTR | c.2498T>G (p.Phe833Cys) c.*2212T>G (n.*2212T>G) c.2315T>G (p.Phe772Cys) c.*798T>G (n.*798T>G) c.*2322T>G (n.*2322T>G) c.2072T>G (p.Phe691Cys) c.89T>G (p.Phe30Cys) c.148T>G c.1402-7889T>G (n.1402-7889T>G) c.2408T>G (p.Phe803Cys) c.2588T>G (p.Phe863Cys) c.2255T>G (p.Phe752Cys) |