WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.117594990C>A | CA457227587 | CFTR | c.2551C>A (p.Arg851=) c.*2265C>A (n.*2265C>A) c.2368C>A (p.Arg790=) c.*851C>A (n.*851C>A) c.*2375C>A (n.*2375C>A) c.2125C>A (p.Arg709=) c.142C>A (p.Arg48=) c.201C>A c.1402-7836C>A (n.1402-7836C>A) c.2461C>A (p.Arg821=) c.2641C>A (p.Arg881=) c.2308C>A (p.Arg770=) | gnomAD v4 |
| 7 | g.117594990C= | CA1737397791 | CFTR | c.2551C= (p.Arg851=) c.*2265C= (n.*2265C=) c.2368C= (p.Arg790=) c.*851C= (n.*851C=) c.*2375C= (n.*2375C=) c.2125C= (p.Arg709=) c.142C= (p.Arg48=) c.201C= c.1402-7836C= (n.1402-7836C=) c.2461C= (p.Arg821=) c.2641C= (p.Arg881=) c.2308C= (p.Arg770=) | |
| 7 | g.117594990C>G | CA368983940 | CFTR | c.2551C>G (p.Arg851Gly) c.*2265C>G (n.*2265C>G) c.2368C>G (p.Arg790Gly) c.*851C>G (n.*851C>G) c.*2375C>G (n.*2375C>G) c.2125C>G (p.Arg709Gly) c.142C>G (p.Arg48Gly) c.201C>G c.1402-7836C>G (n.1402-7836C>G) c.2461C>G (p.Arg821Gly) c.2641C>G (p.Arg881Gly) c.2308C>G (p.Arg770Gly) | |
| 7 | g.117594990C>T | CA340645 | CFTR | c.2551C>T (p.Arg851Ter) c.*2265C>T (n.*2265C>T) c.2368C>T (p.Arg790Ter) c.*851C>T (n.*851C>T) c.*2375C>T (n.*2375C>T) c.2125C>T (p.Arg709Ter) c.142C>T (p.Arg48Ter) c.201C>T c.1402-7836C>T (n.1402-7836C>T) c.2461C>T (p.Arg821Ter) c.2641C>T (p.Arg881Ter) c.2308C>T (p.Arg770Ter) | ClinVar dbSNP ExAC gnomAD v4 |
| 7 | g.117594991G>A | CA4451222 | CFTR | c.2552G>A (p.Arg851Gln) c.*2266G>A (n.*2266G>A) c.2369G>A (p.Arg790Gln) c.*852G>A (n.*852G>A) c.*2376G>A (n.*2376G>A) c.2126G>A (p.Arg709Gln) c.143G>A (p.Arg48Gln) c.202G>A c.1402-7835G>A (n.1402-7835G>A) c.2462G>A (p.Arg821Gln) c.2642G>A (p.Arg881Gln) c.2309G>A (p.Arg770Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117594991G>C | CA368983941 | CFTR | c.2552G>C (p.Arg851Pro) c.*2266G>C (n.*2266G>C) c.2369G>C (p.Arg790Pro) c.*852G>C (n.*852G>C) c.*2376G>C (n.*2376G>C) c.2126G>C (p.Arg709Pro) c.143G>C (p.Arg48Pro) c.202G>C c.1402-7835G>C (n.1402-7835G>C) c.2462G>C (p.Arg821Pro) c.2642G>C (p.Arg881Pro) c.2309G>C (p.Arg770Pro) | |
| 7 | g.117594991G= | CA1737397799 | CFTR | c.2552G= (p.Arg851=) c.*2266G= (n.*2266G=) c.2369G= (p.Arg790=) c.*852G= (n.*852G=) c.*2376G= (n.*2376G=) c.2126G= (p.Arg709=) c.143G= (p.Arg48=) c.202G= c.1402-7835G= (n.1402-7835G=) c.2462G= (p.Arg821=) c.2642G= (p.Arg881=) c.2309G= (p.Arg770=) | |
| 7 | g.117594991G>T | CA326845 | CFTR | c.2552G>T (p.Arg851Leu) c.*2266G>T (n.*2266G>T) c.2369G>T (p.Arg790Leu) c.*852G>T (n.*852G>T) c.*2376G>T (n.*2376G>T) c.2126G>T (p.Arg709Leu) c.143G>T (p.Arg48Leu) c.202G>T c.1402-7835G>T (n.1402-7835G>T) c.2462G>T (p.Arg821Leu) c.2642G>T (p.Arg881Leu) c.2309G>T (p.Arg770Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117594992A= | CA1737397806 | CFTR | c.2553A= (p.Arg851=) c.*2267A= (n.*2267A=) c.2370A= (p.Arg790=) c.*853A= (n.*853A=) c.*2377A= (n.*2377A=) c.2127A= (p.Arg709=) c.144A= (p.Arg48=) c.203A= c.1402-7834A= (n.1402-7834A=) c.2463A= (p.Arg821=) c.2643A= (p.Arg881=) c.2310A= (p.Arg770=) | |
| 7 | g.117594992A>C | CA457227589 | CFTR | c.2553A>C (p.Arg851=) c.*2267A>C (n.*2267A>C) c.2370A>C (p.Arg790=) c.*853A>C (n.*853A>C) c.*2377A>C (n.*2377A>C) c.2127A>C (p.Arg709=) c.144A>C (p.Arg48=) c.203A>C c.1402-7834A>C (n.1402-7834A>C) c.2463A>C (p.Arg821=) c.2643A>C (p.Arg881=) c.2310A>C (p.Arg770=) | |
| 7 | g.117594992A>G | CA457227590 | CFTR | c.2553A>G (p.Arg851=) c.*2267A>G (n.*2267A>G) c.2370A>G (p.Arg790=) c.*853A>G (n.*853A>G) c.*2377A>G (n.*2377A>G) c.2127A>G (p.Arg709=) c.144A>G (p.Arg48=) c.203A>G c.1402-7834A>G (n.1402-7834A>G) c.2463A>G (p.Arg821=) c.2643A>G (p.Arg881=) c.2310A>G (p.Arg770=) | |
| 7 | g.117594992A>T | CA457227591 | CFTR | c.2553A>T (p.Arg851=) c.*2267A>T (n.*2267A>T) c.2370A>T (p.Arg790=) c.*853A>T (n.*853A>T) c.*2377A>T (n.*2377A>T) c.2127A>T (p.Arg709=) c.144A>T (p.Arg48=) c.203A>T c.1402-7834A>T (n.1402-7834A>T) c.2463A>T (p.Arg821=) c.2643A>T (p.Arg881=) c.2310A>T (p.Arg770=) | |
| 7 | g.117594993T>A | CA368983942 | CFTR | c.2554T>A (p.Tyr852Asn) c.*2268T>A (n.*2268T>A) c.2371T>A (p.Tyr791Asn) c.*854T>A (n.*854T>A) c.*2378T>A (n.*2378T>A) c.2128T>A (p.Tyr710Asn) c.145T>A (p.Tyr49Asn) c.204T>A c.1402-7833T>A (n.1402-7833T>A) c.2464T>A (p.Tyr822Asn) c.2644T>A (p.Tyr882Asn) c.2311T>A (p.Tyr771Asn) | |
| 7 | g.117594993T>C | CA368983943 | CFTR | c.2554T>C (p.Tyr852His) c.*2268T>C (n.*2268T>C) c.2371T>C (p.Tyr791His) c.*854T>C (n.*854T>C) c.*2378T>C (n.*2378T>C) c.2128T>C (p.Tyr710His) c.145T>C (p.Tyr49His) c.204T>C c.1402-7833T>C (n.1402-7833T>C) c.2464T>C (p.Tyr822His) c.2644T>C (p.Tyr882His) c.2311T>C (p.Tyr771His) | |
| 7 | g.117594993T>G | CA368983944 | CFTR | c.2554T>G (p.Tyr852Asp) c.*2268T>G (n.*2268T>G) c.2371T>G (p.Tyr791Asp) c.*854T>G (n.*854T>G) c.*2378T>G (n.*2378T>G) c.2128T>G (p.Tyr710Asp) c.145T>G (p.Tyr49Asp) c.204T>G c.1402-7833T>G (n.1402-7833T>G) c.2464T>G (p.Tyr822Asp) c.2644T>G (p.Tyr882Asp) c.2311T>G (p.Tyr771Asp) | |
| 7 | g.117594993dup | CA16041133 | CFTR | c.2554dup (p.Tyr852LeufsTer?) c.*2268dup (n.*2268dup) c.2371dup (p.Tyr791LeufsTer?) c.*854dup (n.*854dup) c.*2378dup (n.*2378dup) c.2128dup (p.Tyr710LeufsTer?) c.145dup (p.Tyr49LeufsTer?) c.204dup c.1402-7833dup (n.1402-7833dup) c.2464dup (p.Tyr822LeufsTer?) c.2644dup (p.Tyr882LeufsTer?) c.2311dup (p.Tyr771LeufsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117594994del | CA2580076590 | CFTR | c.2555del (p.Tyr852LeufsTer8) c.*2269del (n.*2269del) c.2372del (p.Tyr791LeufsTer8) c.*855del (n.*855del) c.*2379del (n.*2379del) c.2129del (p.Tyr710LeufsTer8) c.146del (p.Tyr49LeufsTer8) c.205del c.1402-7832del (n.1402-7832del) c.2465del (p.Tyr822LeufsTer8) c.2645del (p.Tyr882LeufsTer8) c.2312del (p.Tyr771LeufsTer8) | ClinVar |
| 7 | g.117594994A>C | CA368983945 | CFTR | c.2555A>C (p.Tyr852Ser) c.*2269A>C (n.*2269A>C) c.2372A>C (p.Tyr791Ser) c.*855A>C (n.*855A>C) c.*2379A>C (n.*2379A>C) c.2129A>C (p.Tyr710Ser) c.146A>C (p.Tyr49Ser) c.205A>C c.1402-7832A>C (n.1402-7832A>C) c.2465A>C (p.Tyr822Ser) c.2645A>C (p.Tyr882Ser) c.2312A>C (p.Tyr771Ser) | |
| 7 | g.117594994A>G | CA368983946 | CFTR | c.2555A>G (p.Tyr852Cys) c.*2269A>G (n.*2269A>G) c.2372A>G (p.Tyr791Cys) c.*855A>G (n.*855A>G) c.*2379A>G (n.*2379A>G) c.2129A>G (p.Tyr710Cys) c.146A>G (p.Tyr49Cys) c.205A>G c.1402-7832A>G (n.1402-7832A>G) c.2465A>G (p.Tyr822Cys) c.2645A>G (p.Tyr882Cys) c.2312A>G (p.Tyr771Cys) | |
| 7 | g.117594994A>T | CA368983947 | CFTR | c.2555A>T (p.Tyr852Phe) c.*2269A>T (n.*2269A>T) c.2372A>T (p.Tyr791Phe) c.*855A>T (n.*855A>T) c.*2379A>T (n.*2379A>T) c.2129A>T (p.Tyr710Phe) c.146A>T (p.Tyr49Phe) c.205A>T c.1402-7832A>T (n.1402-7832A>T) c.2465A>T (p.Tyr822Phe) c.2645A>T (p.Tyr882Phe) c.2312A>T (p.Tyr771Phe) | |
| 7 | g.117594995T>A | CA368983948 | CFTR | c.2556T>A (p.Tyr852Ter) c.*2270T>A (n.*2270T>A) c.2373T>A (p.Tyr791Ter) c.*856T>A (n.*856T>A) c.*2380T>A (n.*2380T>A) c.2130T>A (p.Tyr710Ter) c.147T>A (p.Tyr49Ter) c.206T>A c.1402-7831T>A (n.1402-7831T>A) c.2466T>A (p.Tyr822Ter) c.2646T>A (p.Tyr882Ter) c.2313T>A (p.Tyr771Ter) | |
| 7 | g.117594995T>C | CA457227594 | CFTR | c.2556T>C (p.Tyr852=) c.*2270T>C (n.*2270T>C) c.2373T>C (p.Tyr791=) c.*856T>C (n.*856T>C) c.*2380T>C (n.*2380T>C) c.2130T>C (p.Tyr710=) c.147T>C (p.Tyr49=) c.206T>C c.1402-7831T>C (n.1402-7831T>C) c.2466T>C (p.Tyr822=) c.2646T>C (p.Tyr882=) c.2313T>C (p.Tyr771=) | ClinVar gnomAD v4 |
| 7 | g.117594995T>G | CA368983949 | CFTR | c.2556T>G (p.Tyr852Ter) c.*2270T>G (n.*2270T>G) c.2373T>G (p.Tyr791Ter) c.*856T>G (n.*856T>G) c.*2380T>G (n.*2380T>G) c.2130T>G (p.Tyr710Ter) c.147T>G (p.Tyr49Ter) c.206T>G c.1402-7831T>G (n.1402-7831T>G) c.2466T>G (p.Tyr822Ter) c.2646T>G (p.Tyr882Ter) c.2313T>G (p.Tyr771Ter) | ClinVar dbSNP |
| 7 | g.117594995T= | CA1737397813 | CFTR | c.2556T= (p.Tyr852=) c.*2270T= (n.*2270T=) c.2373T= (p.Tyr791=) c.*856T= (n.*856T=) c.*2380T= (n.*2380T=) c.2130T= (p.Tyr710=) c.147T= (p.Tyr49=) c.206T= c.1402-7831T= (n.1402-7831T=) c.2466T= (p.Tyr822=) c.2646T= (p.Tyr882=) c.2313T= (p.Tyr771=) | |
| 7 | g.117594996A= | CA1737397821 | CFTR | c.2557A= (p.Ile853=) c.*2271A= (n.*2271A=) c.2374A= (p.Ile792=) c.*857A= (n.*857A=) c.*2381A= (n.*2381A=) c.2131A= (p.Ile711=) c.148A= (p.Ile50=) c.207A= c.1402-7830A= (n.1402-7830A=) c.2467A= (p.Ile823=) c.2647A= (p.Ile883=) c.2314A= (p.Ile772=) | |
| 7 | g.117594996A>C | CA368983950 | CFTR | c.2557A>C (p.Ile853Leu) c.*2271A>C (n.*2271A>C) c.2374A>C (p.Ile792Leu) c.*857A>C (n.*857A>C) c.*2381A>C (n.*2381A>C) c.2131A>C (p.Ile711Leu) c.148A>C (p.Ile50Leu) c.207A>C c.1402-7830A>C (n.1402-7830A>C) c.2467A>C (p.Ile823Leu) c.2647A>C (p.Ile883Leu) c.2314A>C (p.Ile772Leu) | |
| 7 | g.117594996A>G | CA4451224 | CFTR | c.2557A>G (p.Ile853Val) c.*2271A>G (n.*2271A>G) c.2374A>G (p.Ile792Val) c.*857A>G (n.*857A>G) c.*2381A>G (n.*2381A>G) c.2131A>G (p.Ile711Val) c.148A>G (p.Ile50Val) c.207A>G c.1402-7830A>G (n.1402-7830A>G) c.2467A>G (p.Ile823Val) c.2647A>G (p.Ile883Val) c.2314A>G (p.Ile772Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117594996A>T | CA4451223 | CFTR | c.2557A>T (p.Ile853Phe) c.*2271A>T (n.*2271A>T) c.2374A>T (p.Ile792Phe) c.*857A>T (n.*857A>T) c.*2381A>T (n.*2381A>T) c.2131A>T (p.Ile711Phe) c.148A>T (p.Ile50Phe) c.207A>T c.1402-7830A>T (n.1402-7830A>T) c.2467A>T (p.Ile823Phe) c.2647A>T (p.Ile883Phe) c.2314A>T (p.Ile772Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117594997T>A | CA368983953 | CFTR | c.2558T>A (p.Ile853Asn) c.*2272T>A (n.*2272T>A) c.2375T>A (p.Ile792Asn) c.*858T>A (n.*858T>A) c.*2382T>A (n.*2382T>A) c.2132T>A (p.Ile711Asn) c.149T>A (p.Ile50Asn) c.208T>A c.1402-7829T>A (n.1402-7829T>A) c.2468T>A (p.Ile823Asn) c.2648T>A (p.Ile883Asn) c.2315T>A (p.Ile772Asn) | |
| 7 | g.117594997T>C | CA368983952 | CFTR | c.2558T>C (p.Ile853Thr) c.*2272T>C (n.*2272T>C) c.2375T>C (p.Ile792Thr) c.*858T>C (n.*858T>C) c.*2382T>C (n.*2382T>C) c.2132T>C (p.Ile711Thr) c.149T>C (p.Ile50Thr) c.208T>C c.1402-7829T>C (n.1402-7829T>C) c.2468T>C (p.Ile823Thr) c.2648T>C (p.Ile883Thr) c.2315T>C (p.Ile772Thr) | dbSNP |
| 7 | g.117594997T>G | CA368983951 | CFTR | c.2558T>G (p.Ile853Ser) c.*2272T>G (n.*2272T>G) c.2375T>G (p.Ile792Ser) c.*858T>G (n.*858T>G) c.*2382T>G (n.*2382T>G) c.2132T>G (p.Ile711Ser) c.149T>G (p.Ile50Ser) c.208T>G c.1402-7829T>G (n.1402-7829T>G) c.2468T>G (p.Ile823Ser) c.2648T>G (p.Ile883Ser) c.2315T>G (p.Ile772Ser) | |
| 7 | g.117594997T= | CA1737397826 | CFTR | c.2558T= (p.Ile853=) c.*2272T= (n.*2272T=) c.2375T= (p.Ile792=) c.*858T= (n.*858T=) c.*2382T= (n.*2382T=) c.2132T= (p.Ile711=) c.149T= (p.Ile50=) c.208T= c.1402-7829T= (n.1402-7829T=) c.2468T= (p.Ile823=) c.2648T= (p.Ile883=) c.2315T= (p.Ile772=) | |
| 7 | g.117594998T>A | CA457227596 | CFTR | c.2559T>A (p.Ile853=) c.*2273T>A (n.*2273T>A) c.2376T>A (p.Ile792=) c.*859T>A (n.*859T>A) c.*2383T>A (n.*2383T>A) c.2133T>A (p.Ile711=) c.150T>A (p.Ile50=) c.209T>A c.1402-7828T>A (n.1402-7828T>A) c.2469T>A (p.Ile823=) c.2649T>A (p.Ile883=) c.2316T>A (p.Ile772=) | |
| 7 | g.117594998T>C | CA4451225 | CFTR | c.2559T>C (p.Ile853=) c.*2273T>C (n.*2273T>C) c.2376T>C (p.Ile792=) c.*859T>C (n.*859T>C) c.*2383T>C (n.*2383T>C) c.2133T>C (p.Ile711=) c.150T>C (p.Ile50=) c.209T>C c.1402-7828T>C (n.1402-7828T>C) c.2469T>C (p.Ile823=) c.2649T>C (p.Ile883=) c.2316T>C (p.Ile772=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117594998T>G | CA368983954 | CFTR | c.2559T>G (p.Ile853Met) c.*2273T>G (n.*2273T>G) c.2376T>G (p.Ile792Met) c.*859T>G (n.*859T>G) c.*2383T>G (n.*2383T>G) c.2133T>G (p.Ile711Met) c.150T>G (p.Ile50Met) c.209T>G c.1402-7828T>G (n.1402-7828T>G) c.2469T>G (p.Ile823Met) c.2649T>G (p.Ile883Met) c.2316T>G (p.Ile772Met) | gnomAD v4 |
| 7 | g.117594998T= | CA1737397833 | CFTR | c.2559T= (p.Ile853=) c.*2273T= (n.*2273T=) c.2376T= (p.Ile792=) c.*859T= (n.*859T=) c.*2383T= (n.*2383T=) c.2133T= (p.Ile711=) c.150T= (p.Ile50=) c.209T= c.1402-7828T= (n.1402-7828T=) c.2469T= (p.Ile823=) c.2649T= (p.Ile883=) c.2316T= (p.Ile772=) | |
| 7 | g.117594999A= | CA1737362686 | CFTR | c.2560A= (p.Thr854=) c.*2274A= (n.*2274A=) c.2377A= (p.Thr793=) c.*860A= (n.*860A=) c.*2384A= (n.*2384A=) c.2134A= (p.Thr712=) c.151A= (p.Thr51=) c.210A= c.1402-7827A= (n.1402-7827A=) c.2470A= (p.Thr824=) c.2650A= (p.Thr884=) c.2317A= (p.Thr773=) | |
| 7 | g.117594999A>C | CA368983955 | CFTR | c.2560A>C (p.Thr854Pro) c.*2274A>C (n.*2274A>C) c.2377A>C (p.Thr793Pro) c.*860A>C (n.*860A>C) c.*2384A>C (n.*2384A>C) c.2134A>C (p.Thr712Pro) c.151A>C (p.Thr51Pro) c.210A>C c.1402-7827A>C (n.1402-7827A>C) c.2470A>C (p.Thr824Pro) c.2650A>C (p.Thr884Pro) c.2317A>C (p.Thr773Pro) | |
| 7 | g.117594999A>G | CA368983956 | CFTR | c.2560A>G (p.Thr854Ala) c.*2274A>G (n.*2274A>G) c.2377A>G (p.Thr793Ala) c.*860A>G (n.*860A>G) c.*2384A>G (n.*2384A>G) c.2134A>G (p.Thr712Ala) c.151A>G (p.Thr51Ala) c.210A>G c.1402-7827A>G (n.1402-7827A>G) c.2470A>G (p.Thr824Ala) c.2650A>G (p.Thr884Ala) c.2317A>G (p.Thr773Ala) | dbSNP |
| 7 | g.117594999A>T | CA368983957 | CFTR | c.2560A>T (p.Thr854Ser) c.*2274A>T (n.*2274A>T) c.2377A>T (p.Thr793Ser) c.*860A>T (n.*860A>T) c.*2384A>T (n.*2384A>T) c.2134A>T (p.Thr712Ser) c.151A>T (p.Thr51Ser) c.210A>T c.1402-7827A>T (n.1402-7827A>T) c.2470A>T (p.Thr824Ser) c.2650A>T (p.Thr884Ser) c.2317A>T (p.Thr773Ser) | |
| 7 | g.117594999dup | CA2499218684 | CFTR | c.2560dup (p.Thr854AsnfsTer?) c.*2274dup (n.*2274dup) c.2377dup (p.Thr793AsnfsTer?) c.*860dup (n.*860dup) c.*2384dup (n.*2384dup) c.2134dup (p.Thr712AsnfsTer?) c.151dup (p.Thr51AsnfsTer?) c.210dup c.1402-7827dup (n.1402-7827dup) c.2470dup (p.Thr824AsnfsTer?) c.2650dup (p.Thr884AsnfsTer?) c.2317dup (p.Thr773AsnfsTer?) | ClinVar dbSNP |
| 7 | g.117595000C>A | CA368983958 | CFTR | c.2561C>A (p.Thr854Asn) c.*2275C>A (n.*2275C>A) c.2378C>A (p.Thr793Asn) c.*861C>A (n.*861C>A) c.*2385C>A (n.*2385C>A) c.2135C>A (p.Thr712Asn) c.152C>A (p.Thr51Asn) c.211C>A c.1402-7826C>A (n.1402-7826C>A) c.2471C>A (p.Thr824Asn) c.2651C>A (p.Thr884Asn) c.2318C>A (p.Thr773Asn) | |
| 7 | g.117595000C= | CA1737362689 | CFTR | c.2561C= (p.Thr854=) c.*2275C= (n.*2275C=) c.2378C= (p.Thr793=) c.*861C= (n.*861C=) c.*2385C= (n.*2385C=) c.2135C= (p.Thr712=) c.152C= (p.Thr51=) c.211C= c.1402-7826C= (n.1402-7826C=) c.2471C= (p.Thr824=) c.2651C= (p.Thr884=) c.2318C= (p.Thr773=) | |
| 7 | g.117595000C>G | CA368983959 | CFTR | c.2561C>G (p.Thr854Ser) c.*2275C>G (n.*2275C>G) c.2378C>G (p.Thr793Ser) c.*861C>G (n.*861C>G) c.*2385C>G (n.*2385C>G) c.2135C>G (p.Thr712Ser) c.152C>G (p.Thr51Ser) c.211C>G c.1402-7826C>G (n.1402-7826C>G) c.2471C>G (p.Thr824Ser) c.2651C>G (p.Thr884Ser) c.2318C>G (p.Thr773Ser) | |
| 7 | g.117595000C>T | CA4451226 | CFTR | c.2561C>T (p.Thr854Ile) c.*2275C>T (n.*2275C>T) c.2378C>T (p.Thr793Ile) c.*861C>T (n.*861C>T) c.*2385C>T (n.*2385C>T) c.2135C>T (p.Thr712Ile) c.152C>T (p.Thr51Ile) c.211C>T c.1402-7826C>T (n.1402-7826C>T) c.2471C>T (p.Thr824Ile) c.2651C>T (p.Thr884Ile) c.2318C>T (p.Thr773Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |