| 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.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.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.117594977G>A | CA325527 | CFTR | c.2538G>A (p.Trp846Ter) c.*2252G>A (n.*2252G>A) c.2355G>A (p.Trp785Ter) c.*838G>A (n.*838G>A) c.*2362G>A (n.*2362G>A) c.2112G>A (p.Trp704Ter) c.129G>A (p.Trp43Ter) c.188G>A c.1402-7849G>A (n.1402-7849G>A) c.2448G>A (p.Trp816Ter) c.2628G>A (p.Trp876Ter) c.2295G>A (p.Trp765Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117594977G>C | CA368983914 | CFTR | c.2538G>C (p.Trp846Cys) c.*2252G>C (n.*2252G>C) c.2355G>C (p.Trp785Cys) c.*838G>C (n.*838G>C) c.*2362G>C (n.*2362G>C) c.2112G>C (p.Trp704Cys) c.129G>C (p.Trp43Cys) c.188G>C c.1402-7849G>C (n.1402-7849G>C) c.2448G>C (p.Trp816Cys) c.2628G>C (p.Trp876Cys) c.2295G>C (p.Trp765Cys) | |
| 7 | g.117594977G= | CA1737397758 | CFTR | c.2538G= (p.Trp846=) c.*2252G= (n.*2252G=) c.2355G= (p.Trp785=) c.*838G= (n.*838G=) c.*2362G= (n.*2362G=) c.2112G= (p.Trp704=) c.129G= (p.Trp43=) c.188G= c.1402-7849G= (n.1402-7849G=) c.2448G= (p.Trp816=) c.2628G= (p.Trp876=) c.2295G= (p.Trp765=) | |
| 7 | g.117594977G>T | CA368983915 | CFTR | c.2538G>T (p.Trp846Cys) c.*2252G>T (n.*2252G>T) c.2355G>T (p.Trp785Cys) c.*838G>T (n.*838G>T) c.*2362G>T (n.*2362G>T) c.2112G>T (p.Trp704Cys) c.129G>T (p.Trp43Cys) c.188G>T c.1402-7849G>T (n.1402-7849G>T) c.2448G>T (p.Trp816Cys) c.2628G>T (p.Trp876Cys) c.2295G>T (p.Trp765Cys) | |
| 7 | g.117594978A= | CA1737397760 | CFTR | c.2539A= (p.Asn847=) c.*2253A= (n.*2253A=) c.2356A= (p.Asn786=) c.*839A= (n.*839A=) c.*2363A= (n.*2363A=) c.2113A= (p.Asn705=) c.130A= (p.Asn44=) c.189A= c.1402-7848A= (n.1402-7848A=) c.2449A= (p.Asn817=) c.2629A= (p.Asn877=) c.2296A= (p.Asn766=) | |
| 7 | g.117594978A>C | CA368983916 | CFTR | c.2539A>C (p.Asn847His) c.*2253A>C (n.*2253A>C) c.2356A>C (p.Asn786His) c.*839A>C (n.*839A>C) c.*2363A>C (n.*2363A>C) c.2113A>C (p.Asn705His) c.130A>C (p.Asn44His) c.189A>C c.1402-7848A>C (n.1402-7848A>C) c.2449A>C (p.Asn817His) c.2629A>C (p.Asn877His) c.2296A>C (p.Asn766His) | |
| 7 | g.117594978A>G | CA368983917 | CFTR | c.2539A>G (p.Asn847Asp) c.*2253A>G (n.*2253A>G) c.2356A>G (p.Asn786Asp) c.*839A>G (n.*839A>G) c.*2363A>G (n.*2363A>G) c.2113A>G (p.Asn705Asp) c.130A>G (p.Asn44Asp) c.189A>G c.1402-7848A>G (n.1402-7848A>G) c.2449A>G (p.Asn817Asp) c.2629A>G (p.Asn877Asp) c.2296A>G (p.Asn766Asp) | dbSNP |
| 7 | g.117594978A>T | CA368983918 | CFTR | c.2539A>T (p.Asn847Tyr) c.*2253A>T (n.*2253A>T) c.2356A>T (p.Asn786Tyr) c.*839A>T (n.*839A>T) c.*2363A>T (n.*2363A>T) c.2113A>T (p.Asn705Tyr) c.130A>T (p.Asn44Tyr) c.189A>T c.1402-7848A>T (n.1402-7848A>T) c.2449A>T (p.Asn817Tyr) c.2629A>T (p.Asn877Tyr) c.2296A>T (p.Asn766Tyr) | |
| 7 | g.117594979A= | CA1737397763 | CFTR | c.2540A= (p.Asn847=) c.*2254A= (n.*2254A=) c.2357A= (p.Asn786=) c.*840A= (n.*840A=) c.*2364A= (n.*2364A=) c.2114A= (p.Asn705=) c.131A= (p.Asn44=) c.190A= c.1402-7847A= (n.1402-7847A=) c.2450A= (p.Asn817=) c.2630A= (p.Asn877=) c.2297A= (p.Asn766=) | |
| 7 | g.117594979A>C | CA368983919 | CFTR | c.2540A>C (p.Asn847Thr) c.*2254A>C (n.*2254A>C) c.2357A>C (p.Asn786Thr) c.*840A>C (n.*840A>C) c.*2364A>C (n.*2364A>C) c.2114A>C (p.Asn705Thr) c.131A>C (p.Asn44Thr) c.190A>C c.1402-7847A>C (n.1402-7847A>C) c.2450A>C (p.Asn817Thr) c.2630A>C (p.Asn877Thr) c.2297A>C (p.Asn766Thr) | |
| 7 | g.117594979A>G | CA4451218 | CFTR | c.2540A>G (p.Asn847Ser) c.*2254A>G (n.*2254A>G) c.2357A>G (p.Asn786Ser) c.*840A>G (n.*840A>G) c.*2364A>G (n.*2364A>G) c.2114A>G (p.Asn705Ser) c.131A>G (p.Asn44Ser) c.190A>G c.1402-7847A>G (n.1402-7847A>G) c.2450A>G (p.Asn817Ser) c.2630A>G (p.Asn877Ser) c.2297A>G (p.Asn766Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117594979A>T | CA368983920 | CFTR | c.2540A>T (p.Asn847Ile) c.*2254A>T (n.*2254A>T) c.2357A>T (p.Asn786Ile) c.*840A>T (n.*840A>T) c.*2364A>T (n.*2364A>T) c.2114A>T (p.Asn705Ile) c.131A>T (p.Asn44Ile) c.190A>T c.1402-7847A>T (n.1402-7847A>T) c.2450A>T (p.Asn817Ile) c.2630A>T (p.Asn877Ile) c.2297A>T (p.Asn766Ile) | |
| 7 | g.117594980C>A | CA368983921 | CFTR | c.2541C>A (p.Asn847Lys) c.*2255C>A (n.*2255C>A) c.2358C>A (p.Asn786Lys) c.*841C>A (n.*841C>A) c.*2365C>A (n.*2365C>A) c.2115C>A (p.Asn705Lys) c.132C>A (p.Asn44Lys) c.191C>A c.1402-7846C>A (n.1402-7846C>A) c.2451C>A (p.Asn817Lys) c.2631C>A (p.Asn877Lys) c.2298C>A (p.Asn766Lys) | gnomAD v4 |
| 7 | g.117594980C>G | CA368983922 | CFTR | c.2541C>G (p.Asn847Lys) c.*2255C>G (n.*2255C>G) c.2358C>G (p.Asn786Lys) c.*841C>G (n.*841C>G) c.*2365C>G (n.*2365C>G) c.2115C>G (p.Asn705Lys) c.132C>G (p.Asn44Lys) c.191C>G c.1402-7846C>G (n.1402-7846C>G) c.2451C>G (p.Asn817Lys) c.2631C>G (p.Asn877Lys) c.2298C>G (p.Asn766Lys) | |
| 7 | g.117594980C>T | CA457227580 | CFTR | c.2541C>T (p.Asn847=) c.*2255C>T (n.*2255C>T) c.2358C>T (p.Asn786=) c.*841C>T (n.*841C>T) c.*2365C>T (n.*2365C>T) c.2115C>T (p.Asn705=) c.132C>T (p.Asn44=) c.191C>T c.1402-7846C>T (n.1402-7846C>T) c.2451C>T (p.Asn817=) c.2631C>T (p.Asn877=) c.2298C>T (p.Asn766=) | |
| 7 | g.117594981A>C | CA368983923 | CFTR | c.2542A>C (p.Thr848Pro) c.*2256A>C (n.*2256A>C) c.2359A>C (p.Thr787Pro) c.*842A>C (n.*842A>C) c.*2366A>C (n.*2366A>C) c.2116A>C (p.Thr706Pro) c.133A>C (p.Thr45Pro) c.192A>C c.1402-7845A>C (n.1402-7845A>C) c.2452A>C (p.Thr818Pro) c.2632A>C (p.Thr878Pro) c.2299A>C (p.Thr767Pro) | |
| 7 | g.117594981A>G | CA368983925 | CFTR | c.2542A>G (p.Thr848Ala) c.*2256A>G (n.*2256A>G) c.2359A>G (p.Thr787Ala) c.*842A>G (n.*842A>G) c.*2366A>G (n.*2366A>G) c.2116A>G (p.Thr706Ala) c.133A>G (p.Thr45Ala) c.192A>G c.1402-7845A>G (n.1402-7845A>G) c.2452A>G (p.Thr818Ala) c.2632A>G (p.Thr878Ala) c.2299A>G (p.Thr767Ala) | |
| 7 | g.117594981A>T | CA368983924 | CFTR | c.2542A>T (p.Thr848Ser) c.*2256A>T (n.*2256A>T) c.2359A>T (p.Thr787Ser) c.*842A>T (n.*842A>T) c.*2366A>T (n.*2366A>T) c.2116A>T (p.Thr706Ser) c.133A>T (p.Thr45Ser) c.192A>T c.1402-7845A>T (n.1402-7845A>T) c.2452A>T (p.Thr818Ser) c.2632A>T (p.Thr878Ser) c.2299A>T (p.Thr767Ser) | |
| 7 | g.117594982C>A | CA368983926 | CFTR | c.2543C>A (p.Thr848Lys) c.*2257C>A (n.*2257C>A) c.2360C>A (p.Thr787Lys) c.*843C>A (n.*843C>A) c.*2367C>A (n.*2367C>A) c.2117C>A (p.Thr706Lys) c.134C>A (p.Thr45Lys) c.193C>A c.1402-7844C>A (n.1402-7844C>A) c.2453C>A (p.Thr818Lys) c.2633C>A (p.Thr878Lys) c.2300C>A (p.Thr767Lys) | |
| 7 | g.117594982C>G | CA368983928 | CFTR | c.2543C>G (p.Thr848Arg) c.*2257C>G (n.*2257C>G) c.2360C>G (p.Thr787Arg) c.*843C>G (n.*843C>G) c.*2367C>G (n.*2367C>G) c.2117C>G (p.Thr706Arg) c.134C>G (p.Thr45Arg) c.193C>G c.1402-7844C>G (n.1402-7844C>G) c.2453C>G (p.Thr818Arg) c.2633C>G (p.Thr878Arg) c.2300C>G (p.Thr767Arg) | ClinVar |
| 7 | g.117594982C>T | CA368983927 | CFTR | c.2543C>T (p.Thr848Ile) c.*2257C>T (n.*2257C>T) c.2360C>T (p.Thr787Ile) c.*843C>T (n.*843C>T) c.*2367C>T (n.*2367C>T) c.2117C>T (p.Thr706Ile) c.134C>T (p.Thr45Ile) c.193C>T c.1402-7844C>T (n.1402-7844C>T) c.2453C>T (p.Thr818Ile) c.2633C>T (p.Thr878Ile) c.2300C>T (p.Thr767Ile) | |
| 7 | g.117594982_117594983insTGTATACCTTCGTAAT | CA2684619532 | CFTR | c.2543_2544insTGTATACCTTCGTAAT (p.Tyr849ValfsTer?) c.*2257_*2258insTGTATACCTTCGTAAT (n.*2257_*2258insTGTATACCTTCGTAAT) c.2360_2361insTGTATACCTTCGTAAT (p.Tyr788ValfsTer?) c.*843_*844insTGTATACCTTCGTAAT (n.*843_*844insTGTATACCTTCGTAAT) c.*2367_*2368insTGTATACCTTCGTAAT (n.*2367_*2368insTGTATACCTTCGTAAT) c.2117_2118insTGTATACCTTCGTAAT (p.Tyr707ValfsTer?) c.134_135insTGTATACCTTCGTAAT (p.Tyr46ValfsTer?) c.193_194insTGTATACCTTCGTAAT c.1402-7844_1402-7843insTGTATACCTTCGTAAT (n.1402-7844_1402-7843insTGTATACCTTCGTAAT) c.2453_2454insTGTATACCTTCGTAAT (p.Tyr819ValfsTer?) c.2633_2634insTGTATACCTTCGTAAT (p.Tyr879ValfsTer?) c.2300_2301insTGTATACCTTCGTAAT (p.Tyr768ValfsTer?) | gnomAD v4 |
| 7 | g.117594983A= | CA1737397771 | CFTR | c.2544A= (p.Thr848=) c.*2258A= (n.*2258A=) c.2361A= (p.Thr787=) c.*844A= (n.*844A=) c.*2368A= (n.*2368A=) c.2118A= (p.Thr706=) c.135A= (p.Thr45=) c.194A= c.1402-7843A= (n.1402-7843A=) c.2454A= (p.Thr818=) c.2634A= (p.Thr878=) c.2301A= (p.Thr767=) | |
| 7 | g.117594983A>C | CA457227581 | CFTR | c.2544A>C (p.Thr848=) c.*2258A>C (n.*2258A>C) c.2361A>C (p.Thr787=) c.*844A>C (n.*844A>C) c.*2368A>C (n.*2368A>C) c.2118A>C (p.Thr706=) c.135A>C (p.Thr45=) c.194A>C c.1402-7843A>C (n.1402-7843A>C) c.2454A>C (p.Thr818=) c.2634A>C (p.Thr878=) c.2301A>C (p.Thr767=) | |
| 7 | g.117594983A>G | CA457227582 | CFTR | c.2544A>G (p.Thr848=) c.*2258A>G (n.*2258A>G) c.2361A>G (p.Thr787=) c.*844A>G (n.*844A>G) c.*2368A>G (n.*2368A>G) c.2118A>G (p.Thr706=) c.135A>G (p.Thr45=) c.194A>G c.1402-7843A>G (n.1402-7843A>G) c.2454A>G (p.Thr818=) c.2634A>G (p.Thr878=) c.2301A>G (p.Thr767=) | |
| 7 | g.117594983A>T | CA4451219 | CFTR | c.2544A>T (p.Thr848=) c.*2258A>T (n.*2258A>T) c.2361A>T (p.Thr787=) c.*844A>T (n.*844A>T) c.*2368A>T (n.*2368A>T) c.2118A>T (p.Thr706=) c.135A>T (p.Thr45=) c.194A>T c.1402-7843A>T (n.1402-7843A>T) c.2454A>T (p.Thr818=) c.2634A>T (p.Thr878=) c.2301A>T (p.Thr767=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117594984T>A | CA368983929 | CFTR | c.2545T>A (p.Tyr849Asn) c.*2259T>A (n.*2259T>A) c.2362T>A (p.Tyr788Asn) c.*845T>A (n.*845T>A) c.*2369T>A (n.*2369T>A) c.2119T>A (p.Tyr707Asn) c.136T>A (p.Tyr46Asn) c.195T>A c.1402-7842T>A (n.1402-7842T>A) c.2455T>A (p.Tyr819Asn) c.2635T>A (p.Tyr879Asn) c.2302T>A (p.Tyr768Asn) | ClinVar dbSNP |
| 7 | g.117594984T>C | CA4451220 | CFTR | c.2545T>C (p.Tyr849His) c.*2259T>C (n.*2259T>C) c.2362T>C (p.Tyr788His) c.*845T>C (n.*845T>C) c.*2369T>C (n.*2369T>C) c.2119T>C (p.Tyr707His) c.136T>C (p.Tyr46His) c.195T>C c.1402-7842T>C (n.1402-7842T>C) c.2455T>C (p.Tyr819His) c.2635T>C (p.Tyr879His) c.2302T>C (p.Tyr768His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117594984T>G | CA368983930 | CFTR | c.2545T>G (p.Tyr849Asp) c.*2259T>G (n.*2259T>G) c.2362T>G (p.Tyr788Asp) c.*845T>G (n.*845T>G) c.*2369T>G (n.*2369T>G) c.2119T>G (p.Tyr707Asp) c.136T>G (p.Tyr46Asp) c.195T>G c.1402-7842T>G (n.1402-7842T>G) c.2455T>G (p.Tyr819Asp) c.2635T>G (p.Tyr879Asp) c.2302T>G (p.Tyr768Asp) | |
| 7 | g.117594984T= | CA1737397777 | CFTR | c.2545T= (p.Tyr849=) c.*2259T= (n.*2259T=) c.2362T= (p.Tyr788=) c.*845T= (n.*845T=) c.*2369T= (n.*2369T=) c.2119T= (p.Tyr707=) c.136T= (p.Tyr46=) c.195T= c.1402-7842T= (n.1402-7842T=) c.2455T= (p.Tyr819=) c.2635T= (p.Tyr879=) c.2302T= (p.Tyr768=) | |
| 7 | g.117594985A= | CA1737397780 | CFTR | c.2546A= (p.Tyr849=) c.*2260A= (n.*2260A=) c.2363A= (p.Tyr788=) c.*846A= (n.*846A=) c.*2370A= (n.*2370A=) c.2120A= (p.Tyr707=) c.137A= (p.Tyr46=) c.196A= c.1402-7841A= (n.1402-7841A=) c.2456A= (p.Tyr819=) c.2636A= (p.Tyr879=) c.2303A= (p.Tyr768=) | |
| 7 | g.117594985A>C | CA368983931 | CFTR | c.2546A>C (p.Tyr849Ser) c.*2260A>C (n.*2260A>C) c.2363A>C (p.Tyr788Ser) c.*846A>C (n.*846A>C) c.*2370A>C (n.*2370A>C) c.2120A>C (p.Tyr707Ser) c.137A>C (p.Tyr46Ser) c.196A>C c.1402-7841A>C (n.1402-7841A>C) c.2456A>C (p.Tyr819Ser) c.2636A>C (p.Tyr879Ser) c.2303A>C (p.Tyr768Ser) | |
| 7 | g.117594985A>G | CA4451221 | CFTR | c.2546A>G (p.Tyr849Cys) c.*2260A>G (n.*2260A>G) c.2363A>G (p.Tyr788Cys) c.*846A>G (n.*846A>G) c.*2370A>G (n.*2370A>G) c.2120A>G (p.Tyr707Cys) c.137A>G (p.Tyr46Cys) c.196A>G c.1402-7841A>G (n.1402-7841A>G) c.2456A>G (p.Tyr819Cys) c.2636A>G (p.Tyr879Cys) c.2303A>G (p.Tyr768Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117594985A>T | CA368983932 | CFTR | c.2546A>T (p.Tyr849Phe) c.*2260A>T (n.*2260A>T) c.2363A>T (p.Tyr788Phe) c.*846A>T (n.*846A>T) c.*2370A>T (n.*2370A>T) c.2120A>T (p.Tyr707Phe) c.137A>T (p.Tyr46Phe) c.196A>T c.1402-7841A>T (n.1402-7841A>T) c.2456A>T (p.Tyr819Phe) c.2636A>T (p.Tyr879Phe) c.2303A>T (p.Tyr768Phe) | |
| 7 | g.117594986C>A | CA326841 | CFTR | c.2547C>A (p.Tyr849Ter) c.*2261C>A (n.*2261C>A) c.2364C>A (p.Tyr788Ter) c.*847C>A (n.*847C>A) c.*2371C>A (n.*2371C>A) c.2121C>A (p.Tyr707Ter) c.138C>A (p.Tyr46Ter) c.197C>A c.1402-7840C>A (n.1402-7840C>A) c.2457C>A (p.Tyr819Ter) c.2637C>A (p.Tyr879Ter) c.2304C>A (p.Tyr768Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117594986C= | CA1737397785 | CFTR | c.2547C= (p.Tyr849=) c.*2261C= (n.*2261C=) c.2364C= (p.Tyr788=) c.*847C= (n.*847C=) c.*2371C= (n.*2371C=) c.2121C= (p.Tyr707=) c.138C= (p.Tyr46=) c.197C= c.1402-7840C= (n.1402-7840C=) c.2457C= (p.Tyr819=) c.2637C= (p.Tyr879=) c.2304C= (p.Tyr768=) | |
| 7 | g.117594986C>G | CA368983933 | CFTR | c.2547C>G (p.Tyr849Ter) c.*2261C>G (n.*2261C>G) c.2364C>G (p.Tyr788Ter) c.*847C>G (n.*847C>G) c.*2371C>G (n.*2371C>G) c.2121C>G (p.Tyr707Ter) c.138C>G (p.Tyr46Ter) c.197C>G c.1402-7840C>G (n.1402-7840C>G) c.2457C>G (p.Tyr819Ter) c.2637C>G (p.Tyr879Ter) c.2304C>G (p.Tyr768Ter) | |
| 7 | g.117594986C>T | CA457227583 | CFTR | c.2547C>T (p.Tyr849=) c.*2261C>T (n.*2261C>T) c.2364C>T (p.Tyr788=) c.*847C>T (n.*847C>T) c.*2371C>T (n.*2371C>T) c.2121C>T (p.Tyr707=) c.138C>T (p.Tyr46=) c.197C>T c.1402-7840C>T (n.1402-7840C>T) c.2457C>T (p.Tyr819=) c.2637C>T (p.Tyr879=) c.2304C>T (p.Tyr768=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117594987C>A | CA368983934 | CFTR | c.2548C>A (p.Leu850Ile) c.*2262C>A (n.*2262C>A) c.2365C>A (p.Leu789Ile) c.*848C>A (n.*848C>A) c.*2372C>A (n.*2372C>A) c.2122C>A (p.Leu708Ile) c.139C>A (p.Leu47Ile) c.198C>A c.1402-7839C>A (n.1402-7839C>A) c.2458C>A (p.Leu820Ile) c.2638C>A (p.Leu880Ile) c.2305C>A (p.Leu769Ile) | |
| 7 | g.117594987C>G | CA368983935 | CFTR | c.2548C>G (p.Leu850Val) c.*2262C>G (n.*2262C>G) c.2365C>G (p.Leu789Val) c.*848C>G (n.*848C>G) c.*2372C>G (n.*2372C>G) c.2122C>G (p.Leu708Val) c.139C>G (p.Leu47Val) c.198C>G c.1402-7839C>G (n.1402-7839C>G) c.2458C>G (p.Leu820Val) c.2638C>G (p.Leu880Val) c.2305C>G (p.Leu769Val) | |
| 7 | g.117594987C>T | CA368983936 | CFTR | c.2548C>T (p.Leu850Phe) c.*2262C>T (n.*2262C>T) c.2365C>T (p.Leu789Phe) c.*848C>T (n.*848C>T) c.*2372C>T (n.*2372C>T) c.2122C>T (p.Leu708Phe) c.139C>T (p.Leu47Phe) c.198C>T c.1402-7839C>T (n.1402-7839C>T) c.2458C>T (p.Leu820Phe) c.2638C>T (p.Leu880Phe) c.2305C>T (p.Leu769Phe) | gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117594988T>A | CA368983937 | CFTR | c.2549T>A (p.Leu850His) c.*2263T>A (n.*2263T>A) c.2366T>A (p.Leu789His) c.*849T>A (n.*849T>A) c.*2373T>A (n.*2373T>A) c.2123T>A (p.Leu708His) c.140T>A (p.Leu47His) c.199T>A c.1402-7838T>A (n.1402-7838T>A) c.2459T>A (p.Leu820His) c.2639T>A (p.Leu880His) c.2306T>A (p.Leu769His) | |
| 7 | g.117594988T>C | CA368983938 | CFTR | c.2549T>C (p.Leu850Pro) c.*2263T>C (n.*2263T>C) c.2366T>C (p.Leu789Pro) c.*849T>C (n.*849T>C) c.*2373T>C (n.*2373T>C) c.2123T>C (p.Leu708Pro) c.140T>C (p.Leu47Pro) c.199T>C c.1402-7838T>C (n.1402-7838T>C) c.2459T>C (p.Leu820Pro) c.2639T>C (p.Leu880Pro) c.2306T>C (p.Leu769Pro) | |
| 7 | g.117594988T>G | CA368983939 | CFTR | c.2549T>G (p.Leu850Arg) c.*2263T>G (n.*2263T>G) c.2366T>G (p.Leu789Arg) c.*849T>G (n.*849T>G) c.*2373T>G (n.*2373T>G) c.2123T>G (p.Leu708Arg) c.140T>G (p.Leu47Arg) c.199T>G c.1402-7838T>G (n.1402-7838T>G) c.2459T>G (p.Leu820Arg) c.2639T>G (p.Leu880Arg) c.2306T>G (p.Leu769Arg) | gnomAD v4 |
| 7 | g.117594989T>A | CA457227584 | CFTR | c.2550T>A (p.Leu850=) c.*2264T>A (n.*2264T>A) c.2367T>A (p.Leu789=) c.*850T>A (n.*850T>A) c.*2374T>A (n.*2374T>A) c.2124T>A (p.Leu708=) c.141T>A (p.Leu47=) c.200T>A c.1402-7837T>A (n.1402-7837T>A) c.2460T>A (p.Leu820=) c.2640T>A (p.Leu880=) c.2307T>A (p.Leu769=) |