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.117595022_117595033delinsTGTGCTAATTTG | CA1737362756 | CFTR | c.2583_2594delinsTGTGCTAATTTG (p.Phe861=) c.*2297_*2308delinsTGTGCTAATTTG (n.*2297_*2308delinsTGTGCTAATTTG) c.2400_2411delinsTGTGCTAATTTG (p.Phe800=) c.*883_*894delinsTGTGCTAATTTG (n.*883_*894delinsTGTGCTAATTTG) c.*2407_*2418delinsTGTGCTAATTTG (n.*2407_*2418delinsTGTGCTAATTTG) c.2157_2168delinsTGTGCTAATTTG (p.Phe719=) c.174_185delinsTGTGCTAATTTG (p.Phe58=) c.233_244delinsTGTGCTAATTTG c.1402-7804_1402-7793delinsTGTGCTAATTTG (n.1402-7804_1402-7793delinsTGTGCTAATTTG) c.2493_2504delinsTGTGCTAATTTG (p.Phe831=) c.2673_2684delinsTGTGCTAATTTG (p.Phe891=) c.2340_2351delinsTGTGCTAATTTG (p.Phe780=) | |
| 7 | g.117595028_117595038del | CA326852 | CFTR | c.2589_2599del (p.Ile864SerfsTer28) c.*2303_*2313del (n.*2303_*2313del) c.2406_2416del (p.Ile803SerfsTer28) c.*889_*899del (n.*889_*899del) c.*2413_*2423del (n.*2413_*2423del) c.2163_2173del (p.Ile722SerfsTer28) c.180_190del (p.Ile61SerfsTer28) c.239_249del c.1402-7798_1402-7788del (n.1402-7798_1402-7788del) c.2499_2509del (p.Ile834SerfsTer28) c.2679_2689del (p.Ile894SerfsTer28) c.2346_2356del (p.Ile783SerfsTer28) | ClinVar dbSNP |
| 7 | g.117595028A>C | CA457227628 | CFTR | c.2589A>C (p.Leu863=) c.*2303A>C (n.*2303A>C) c.2406A>C (p.Leu802=) c.*889A>C (n.*889A>C) c.*2413A>C (n.*2413A>C) c.2163A>C (p.Leu721=) c.180A>C (p.Leu60=) c.239A>C c.1402-7798A>C (n.1402-7798A>C) c.2499A>C (p.Leu833=) c.2679A>C (p.Leu893=) c.2346A>C (p.Leu782=) | |
| 7 | g.117595028A>G | CA457227629 | CFTR | c.2589A>G (p.Leu863=) c.*2303A>G (n.*2303A>G) c.2406A>G (p.Leu802=) c.*889A>G (n.*889A>G) c.*2413A>G (n.*2413A>G) c.2163A>G (p.Leu721=) c.180A>G (p.Leu60=) c.239A>G c.1402-7798A>G (n.1402-7798A>G) c.2499A>G (p.Leu833=) c.2679A>G (p.Leu893=) c.2346A>G (p.Leu782=) | ClinVar |
| 7 | g.117595028A>T | CA457227630 | CFTR | c.2589A>T (p.Leu863=) c.*2303A>T (n.*2303A>T) c.2406A>T (p.Leu802=) c.*889A>T (n.*889A>T) c.*2413A>T (n.*2413A>T) c.2163A>T (p.Leu721=) c.180A>T (p.Leu60=) c.239A>T c.1402-7798A>T (n.1402-7798A>T) c.2499A>T (p.Leu833=) c.2679A>T (p.Leu893=) c.2346A>T (p.Leu782=) | |
| 7 | g.117595029A>C | CA368984019 | CFTR | c.2590A>C (p.Ile864Leu) c.*2304A>C (n.*2304A>C) c.2407A>C (p.Ile803Leu) c.*890A>C (n.*890A>C) c.*2414A>C (n.*2414A>C) c.2164A>C (p.Ile722Leu) c.181A>C (p.Ile61Leu) c.240A>C c.1402-7797A>C (n.1402-7797A>C) c.2500A>C (p.Ile834Leu) c.2680A>C (p.Ile894Leu) c.2347A>C (p.Ile783Leu) | |
| 7 | g.117595029A>G | CA368984020 | CFTR | c.2590A>G (p.Ile864Val) c.*2304A>G (n.*2304A>G) c.2407A>G (p.Ile803Val) c.*890A>G (n.*890A>G) c.*2414A>G (n.*2414A>G) c.2164A>G (p.Ile722Val) c.181A>G (p.Ile61Val) c.240A>G c.1402-7797A>G (n.1402-7797A>G) c.2500A>G (p.Ile834Val) c.2680A>G (p.Ile894Val) c.2347A>G (p.Ile783Val) | |
| 7 | g.117595029A>T | CA368984021 | CFTR | c.2590A>T (p.Ile864Phe) c.*2304A>T (n.*2304A>T) c.2407A>T (p.Ile803Phe) c.*890A>T (n.*890A>T) c.*2414A>T (n.*2414A>T) c.2164A>T (p.Ile722Phe) c.181A>T (p.Ile61Phe) c.240A>T c.1402-7797A>T (n.1402-7797A>T) c.2500A>T (p.Ile834Phe) c.2680A>T (p.Ile894Phe) c.2347A>T (p.Ile783Phe) | |
| 7 | g.117595029_117595031delinsATT | CA1737362766 | CFTR | c.2590_2592delinsATT (p.Ile864=) c.*2304_*2306delinsATT (n.*2304_*2306delinsATT) c.2407_2409delinsATT (p.Ile803=) c.*890_*892delinsATT (n.*890_*892delinsATT) c.*2414_*2416delinsATT (n.*2414_*2416delinsATT) c.2164_2166delinsATT (p.Ile722=) c.181_183delinsATT (p.Ile61=) c.240_242delinsATT c.1402-7797_1402-7795delinsATT (n.1402-7797_1402-7795delinsATT) c.2500_2502delinsATT (p.Ile834=) c.2680_2682delinsATT (p.Ile894=) c.2347_2349delinsATT (p.Ile783=) | |
| 7 | g.117595030T>A | CA368984022 | CFTR | c.2591T>A (p.Ile864Asn) c.*2305T>A (n.*2305T>A) c.2408T>A (p.Ile803Asn) c.*891T>A (n.*891T>A) c.*2415T>A (n.*2415T>A) c.2165T>A (p.Ile722Asn) c.182T>A (p.Ile61Asn) c.241T>A c.1402-7796T>A (n.1402-7796T>A) c.2501T>A (p.Ile834Asn) c.2681T>A (p.Ile894Asn) c.2348T>A (p.Ile783Asn) | |
| 7 | g.117595030T>C | CA368984023 | CFTR | c.2591T>C (p.Ile864Thr) c.*2305T>C (n.*2305T>C) c.2408T>C (p.Ile803Thr) c.*891T>C (n.*891T>C) c.*2415T>C (n.*2415T>C) c.2165T>C (p.Ile722Thr) c.182T>C (p.Ile61Thr) c.241T>C c.1402-7796T>C (n.1402-7796T>C) c.2501T>C (p.Ile834Thr) c.2681T>C (p.Ile894Thr) c.2348T>C (p.Ile783Thr) | |
| 7 | g.117595030T>G | CA368984024 | CFTR | c.2591T>G (p.Ile864Ser) c.*2305T>G (n.*2305T>G) c.2408T>G (p.Ile803Ser) c.*891T>G (n.*891T>G) c.*2415T>G (n.*2415T>G) c.2165T>G (p.Ile722Ser) c.182T>G (p.Ile61Ser) c.241T>G c.1402-7796T>G (n.1402-7796T>G) c.2501T>G (p.Ile834Ser) c.2681T>G (p.Ile894Ser) c.2348T>G (p.Ile783Ser) | |
| 7 | g.117595031_117595032del | CA326853 | CFTR | c.2592_2593del (p.Ile864MetfsTer?) c.*2306_*2307del (n.*2306_*2307del) c.2409_2410del (p.Ile803MetfsTer?) c.*892_*893del (n.*892_*893del) c.*2416_*2417del (n.*2416_*2417del) c.2166_2167del (p.Ile722MetfsTer?) c.183_184del (p.Ile61MetfsTer?) c.242_243del c.1402-7795_1402-7794del (n.1402-7795_1402-7794del) c.2502_2503del (p.Ile834MetfsTer?) c.2682_2683del (p.Ile894MetfsTer?) c.2349_2350del (p.Ile783MetfsTer?) | ClinVar dbSNP |
| 7 | g.117595031T>A | CA457227633 | CFTR | c.2592T>A (p.Ile864=) c.*2306T>A (n.*2306T>A) c.2409T>A (p.Ile803=) c.*892T>A (n.*892T>A) c.*2416T>A (n.*2416T>A) c.2166T>A (p.Ile722=) c.183T>A (p.Ile61=) c.242T>A c.1402-7795T>A (n.1402-7795T>A) c.2502T>A (p.Ile834=) c.2682T>A (p.Ile894=) c.2349T>A (p.Ile783=) | gnomAD v4 |
| 7 | g.117595031T>C | CA457227632 | CFTR | c.2592T>C (p.Ile864=) c.*2306T>C (n.*2306T>C) c.2409T>C (p.Ile803=) c.*892T>C (n.*892T>C) c.*2416T>C (n.*2416T>C) c.2166T>C (p.Ile722=) c.183T>C (p.Ile61=) c.242T>C c.1402-7795T>C (n.1402-7795T>C) c.2502T>C (p.Ile834=) c.2682T>C (p.Ile894=) c.2349T>C (p.Ile783=) | dbSNP gnomAD v4 |
| 7 | g.117595031T>G | CA368984025 | CFTR | c.2592T>G (p.Ile864Met) c.*2306T>G (n.*2306T>G) c.2409T>G (p.Ile803Met) c.*892T>G (n.*892T>G) c.*2416T>G (n.*2416T>G) c.2166T>G (p.Ile722Met) c.183T>G (p.Ile61Met) c.242T>G c.1402-7795T>G (n.1402-7795T>G) c.2502T>G (p.Ile834Met) c.2682T>G (p.Ile894Met) c.2349T>G (p.Ile783Met) | |
| 7 | g.117595031T= | CA1737362773 | CFTR | c.2592T= (p.Ile864=) c.*2306T= (n.*2306T=) c.2409T= (p.Ile803=) c.*892T= (n.*892T=) c.*2416T= (n.*2416T=) c.2166T= (p.Ile722=) c.183T= (p.Ile61=) c.242T= c.1402-7795T= (n.1402-7795T=) c.2502T= (p.Ile834=) c.2682T= (p.Ile894=) c.2349T= (p.Ile783=) | |
| 7 | g.117595032T>A | CA368984026 | CFTR | c.2593T>A (p.Trp865Arg) c.*2307T>A (n.*2307T>A) c.2410T>A (p.Trp804Arg) c.*893T>A (n.*893T>A) c.*2417T>A (n.*2417T>A) c.2167T>A (p.Trp723Arg) c.184T>A (p.Trp62Arg) c.243T>A c.1402-7794T>A (n.1402-7794T>A) c.2503T>A (p.Trp835Arg) c.2683T>A (p.Trp895Arg) c.2350T>A (p.Trp784Arg) | |
| 7 | g.117595032T>C | CA368984027 | CFTR | c.2593T>C (p.Trp865Arg) c.*2307T>C (n.*2307T>C) c.2410T>C (p.Trp804Arg) c.*893T>C (n.*893T>C) c.*2417T>C (n.*2417T>C) c.2167T>C (p.Trp723Arg) c.184T>C (p.Trp62Arg) c.243T>C c.1402-7794T>C (n.1402-7794T>C) c.2503T>C (p.Trp835Arg) c.2683T>C (p.Trp895Arg) c.2350T>C (p.Trp784Arg) | |
| 7 | g.117595032T>G | CA368984028 | CFTR | c.2593T>G (p.Trp865Gly) c.*2307T>G (n.*2307T>G) c.2410T>G (p.Trp804Gly) c.*893T>G (n.*893T>G) c.*2417T>G (n.*2417T>G) c.2167T>G (p.Trp723Gly) c.184T>G (p.Trp62Gly) c.243T>G c.1402-7794T>G (n.1402-7794T>G) c.2503T>G (p.Trp835Gly) c.2683T>G (p.Trp895Gly) c.2350T>G (p.Trp784Gly) | |
| 7 | g.117595033G>A | CA368984031 | CFTR | c.2594G>A (p.Trp865Ter) c.*2308G>A (n.*2308G>A) c.2411G>A (p.Trp804Ter) c.*894G>A (n.*894G>A) c.*2418G>A (n.*2418G>A) c.2168G>A (p.Trp723Ter) c.185G>A (p.Trp62Ter) c.244G>A c.1402-7793G>A (n.1402-7793G>A) c.2504G>A (p.Trp835Ter) c.2684G>A (p.Trp895Ter) c.2351G>A (p.Trp784Ter) | |
| 7 | g.117595033G>C | CA368984030 | CFTR | c.2594G>C (p.Trp865Ser) c.*2308G>C (n.*2308G>C) c.2411G>C (p.Trp804Ser) c.*894G>C (n.*894G>C) c.*2418G>C (n.*2418G>C) c.2168G>C (p.Trp723Ser) c.185G>C (p.Trp62Ser) c.244G>C c.1402-7793G>C (n.1402-7793G>C) c.2504G>C (p.Trp835Ser) c.2684G>C (p.Trp895Ser) c.2351G>C (p.Trp784Ser) | |
| 7 | g.117595033G>T | CA368984029 | CFTR | c.2594G>T (p.Trp865Leu) c.*2308G>T (n.*2308G>T) c.2411G>T (p.Trp804Leu) c.*894G>T (n.*894G>T) c.*2418G>T (n.*2418G>T) c.2168G>T (p.Trp723Leu) c.185G>T (p.Trp62Leu) c.244G>T c.1402-7793G>T (n.1402-7793G>T) c.2504G>T (p.Trp835Leu) c.2684G>T (p.Trp895Leu) c.2351G>T (p.Trp784Leu) | gnomAD v4 |
| 7 | g.117595034G>A | CA368984032 | CFTR | c.2595G>A (p.Trp865Ter) c.*2309G>A (n.*2309G>A) c.2412G>A (p.Trp804Ter) c.*895G>A (n.*895G>A) c.*2419G>A (n.*2419G>A) c.2169G>A (p.Trp723Ter) c.186G>A (p.Trp62Ter) c.245G>A c.1402-7792G>A (n.1402-7792G>A) c.2505G>A (p.Trp835Ter) c.2685G>A (p.Trp895Ter) c.2352G>A (p.Trp784Ter) | |
| 7 | g.117595034G>C | CA368984034 | CFTR | c.2595G>C (p.Trp865Cys) c.*2309G>C (n.*2309G>C) c.2412G>C (p.Trp804Cys) c.*895G>C (n.*895G>C) c.*2419G>C (n.*2419G>C) c.2169G>C (p.Trp723Cys) c.186G>C (p.Trp62Cys) c.245G>C c.1402-7792G>C (n.1402-7792G>C) c.2505G>C (p.Trp835Cys) c.2685G>C (p.Trp895Cys) c.2352G>C (p.Trp784Cys) | |
| 7 | g.117595034G>T | CA368984033 | CFTR | c.2595G>T (p.Trp865Cys) c.*2309G>T (n.*2309G>T) c.2412G>T (p.Trp804Cys) c.*895G>T (n.*895G>T) c.*2419G>T (n.*2419G>T) c.2169G>T (p.Trp723Cys) c.186G>T (p.Trp62Cys) c.245G>T c.1402-7792G>T (n.1402-7792G>T) c.2505G>T (p.Trp835Cys) c.2685G>T (p.Trp895Cys) c.2352G>T (p.Trp784Cys) | |
| 7 | g.117595035T>A | CA368984035 | CFTR | c.2596T>A (p.Cys866Ser) c.*2310T>A (n.*2310T>A) c.2413T>A (p.Cys805Ser) c.*896T>A (n.*896T>A) c.*2420T>A (n.*2420T>A) c.2170T>A (p.Cys724Ser) c.187T>A (p.Cys63Ser) c.246T>A c.1402-7791T>A (n.1402-7791T>A) c.2506T>A (p.Cys836Ser) c.2686T>A (p.Cys896Ser) c.2353T>A (p.Cys785Ser) | |
| 7 | g.117595035T>C | CA326854 | CFTR | c.2596T>C (p.Cys866Arg) c.*2310T>C (n.*2310T>C) c.2413T>C (p.Cys805Arg) c.*896T>C (n.*896T>C) c.*2420T>C (n.*2420T>C) c.2170T>C (p.Cys724Arg) c.187T>C (p.Cys63Arg) c.246T>C c.1402-7791T>C (n.1402-7791T>C) c.2506T>C (p.Cys836Arg) c.2686T>C (p.Cys896Arg) c.2353T>C (p.Cys785Arg) | ClinVar dbSNP |
| 7 | g.117595035T>G | CA368984036 | CFTR | c.2596T>G (p.Cys866Gly) c.*2310T>G (n.*2310T>G) c.2413T>G (p.Cys805Gly) c.*896T>G (n.*896T>G) c.*2420T>G (n.*2420T>G) c.2170T>G (p.Cys724Gly) c.187T>G (p.Cys63Gly) c.246T>G c.1402-7791T>G (n.1402-7791T>G) c.2506T>G (p.Cys836Gly) c.2686T>G (p.Cys896Gly) c.2353T>G (p.Cys785Gly) | |
| 7 | g.117595035T= | CA1737362781 | CFTR | c.2596T= (p.Cys866=) c.*2310T= (n.*2310T=) c.2413T= (p.Cys805=) c.*896T= (n.*896T=) c.*2420T= (n.*2420T=) c.2170T= (p.Cys724=) c.187T= (p.Cys63=) c.246T= c.1402-7791T= (n.1402-7791T=) c.2506T= (p.Cys836=) c.2686T= (p.Cys896=) c.2353T= (p.Cys785=) | |
| 7 | g.117595036G>A | CA325700 | CFTR | c.2597G>A (p.Cys866Tyr) c.*2311G>A (n.*2311G>A) c.2414G>A (p.Cys805Tyr) c.*897G>A (n.*897G>A) c.*2421G>A (n.*2421G>A) c.2171G>A (p.Cys724Tyr) c.188G>A (p.Cys63Tyr) c.247G>A c.1402-7790G>A (n.1402-7790G>A) c.2507G>A (p.Cys836Tyr) c.2687G>A (p.Cys896Tyr) c.2354G>A (p.Cys785Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117595036G>C | CA368984037 | CFTR | c.2597G>C (p.Cys866Ser) c.*2311G>C (n.*2311G>C) c.2414G>C (p.Cys805Ser) c.*897G>C (n.*897G>C) c.*2421G>C (n.*2421G>C) c.2171G>C (p.Cys724Ser) c.188G>C (p.Cys63Ser) c.247G>C c.1402-7790G>C (n.1402-7790G>C) c.2507G>C (p.Cys836Ser) c.2687G>C (p.Cys896Ser) c.2354G>C (p.Cys785Ser) | |
| 7 | g.117595036G= | CA1737362786 | CFTR | c.2597G= (p.Cys866=) c.*2311G= (n.*2311G=) c.2414G= (p.Cys805=) c.*897G= (n.*897G=) c.*2421G= (n.*2421G=) c.2171G= (p.Cys724=) c.188G= (p.Cys63=) c.247G= c.1402-7790G= (n.1402-7790G=) c.2507G= (p.Cys836=) c.2687G= (p.Cys896=) c.2354G= (p.Cys785=) | |
| 7 | g.117595036G>T | CA368984038 | CFTR | c.2597G>T (p.Cys866Phe) c.*2311G>T (n.*2311G>T) c.2414G>T (p.Cys805Phe) c.*897G>T (n.*897G>T) c.*2421G>T (n.*2421G>T) c.2171G>T (p.Cys724Phe) c.188G>T (p.Cys63Phe) c.247G>T c.1402-7790G>T (n.1402-7790G>T) c.2507G>T (p.Cys836Phe) c.2687G>T (p.Cys896Phe) c.2354G>T (p.Cys785Phe) | |
| 7 | g.117595037C>A | CA368984039 | CFTR | c.2598C>A (p.Cys866Ter) c.*2312C>A (n.*2312C>A) c.2415C>A (p.Cys805Ter) c.*898C>A (n.*898C>A) c.*2422C>A (n.*2422C>A) c.2172C>A (p.Cys724Ter) c.189C>A (p.Cys63Ter) c.248C>A c.1402-7789C>A (n.1402-7789C>A) c.2508C>A (p.Cys836Ter) c.2688C>A (p.Cys896Ter) c.2355C>A (p.Cys785Ter) | |
| 7 | g.117595037C= | CA1737362787 | CFTR | c.2598C= (p.Cys866=) c.*2312C= (n.*2312C=) c.2415C= (p.Cys805=) c.*898C= (n.*898C=) c.*2422C= (n.*2422C=) c.2172C= (p.Cys724=) c.189C= (p.Cys63=) c.248C= c.1402-7789C= (n.1402-7789C=) c.2508C= (p.Cys836=) c.2688C= (p.Cys896=) c.2355C= (p.Cys785=) | |
| 7 | g.117595037C>G | CA368984040 | CFTR | c.2598C>G (p.Cys866Trp) c.*2312C>G (n.*2312C>G) c.2415C>G (p.Cys805Trp) c.*898C>G (n.*898C>G) c.*2422C>G (n.*2422C>G) c.2172C>G (p.Cys724Trp) c.189C>G (p.Cys63Trp) c.248C>G c.1402-7789C>G (n.1402-7789C>G) c.2508C>G (p.Cys836Trp) c.2688C>G (p.Cys896Trp) c.2355C>G (p.Cys785Trp) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117595037C>T | CA457227639 | CFTR | c.2598C>T (p.Cys866=) c.*2312C>T (n.*2312C>T) c.2415C>T (p.Cys805=) c.*898C>T (n.*898C>T) c.*2422C>T (n.*2422C>T) c.2172C>T (p.Cys724=) c.189C>T (p.Cys63=) c.248C>T c.1402-7789C>T (n.1402-7789C>T) c.2508C>T (p.Cys836=) c.2688C>T (p.Cys896=) c.2355C>T (p.Cys785=) | gnomAD v4 |
| 7 | g.117595038T>A | CA368984041 | CFTR | c.2599T>A (p.Leu867Ile) c.*2313T>A (n.*2313T>A) c.2416T>A (p.Leu806Ile) c.*899T>A (n.*899T>A) c.*2423T>A (n.*2423T>A) c.2173T>A (p.Leu725Ile) c.190T>A (p.Leu64Ile) c.249T>A c.1402-7788T>A (n.1402-7788T>A) c.2509T>A (p.Leu837Ile) c.2689T>A (p.Leu897Ile) c.2356T>A (p.Leu786Ile) | |
| 7 | g.117595038T>C | CA457227643 | CFTR | c.2599T>C (p.Leu867=) c.*2313T>C (n.*2313T>C) c.2416T>C (p.Leu806=) c.*899T>C (n.*899T>C) c.*2423T>C (n.*2423T>C) c.2173T>C (p.Leu725=) c.190T>C (p.Leu64=) c.249T>C c.1402-7788T>C (n.1402-7788T>C) c.2509T>C (p.Leu837=) c.2689T>C (p.Leu897=) c.2356T>C (p.Leu786=) | |
| 7 | g.117595038T>G | CA368984042 | CFTR | c.2599T>G (p.Leu867Val) c.*2313T>G (n.*2313T>G) c.2416T>G (p.Leu806Val) c.*899T>G (n.*899T>G) c.*2423T>G (n.*2423T>G) c.2173T>G (p.Leu725Val) c.190T>G (p.Leu64Val) c.249T>G c.1402-7788T>G (n.1402-7788T>G) c.2509T>G (p.Leu837Val) c.2689T>G (p.Leu897Val) c.2356T>G (p.Leu786Val) | |
| 7 | g.117595039T>A | CA326859 | CFTR | c.2600T>A (p.Leu867Ter) c.*2314T>A (n.*2314T>A) c.2417T>A (p.Leu806Ter) c.*900T>A (n.*900T>A) c.*2424T>A (n.*2424T>A) c.2174T>A (p.Leu725Ter) c.191T>A (p.Leu64Ter) c.250T>A c.1402-7787T>A (n.1402-7787T>A) c.2510T>A (p.Leu837Ter) c.2690T>A (p.Leu897Ter) c.2357T>A (p.Leu786Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117595039T>C | CA368984043 | CFTR | c.2600T>C (p.Leu867Ser) c.*2314T>C (n.*2314T>C) c.2417T>C (p.Leu806Ser) c.*900T>C (n.*900T>C) c.*2424T>C (n.*2424T>C) c.2174T>C (p.Leu725Ser) c.191T>C (p.Leu64Ser) c.250T>C c.1402-7787T>C (n.1402-7787T>C) c.2510T>C (p.Leu837Ser) c.2690T>C (p.Leu897Ser) c.2357T>C (p.Leu786Ser) | |
| 7 | g.117595039T>G | CA368984044 | CFTR | c.2600T>G (p.Leu867Ter) c.*2314T>G (n.*2314T>G) c.2417T>G (p.Leu806Ter) c.*900T>G (n.*900T>G) c.*2424T>G (n.*2424T>G) c.2174T>G (p.Leu725Ter) c.191T>G (p.Leu64Ter) c.250T>G c.1402-7787T>G (n.1402-7787T>G) c.2510T>G (p.Leu837Ter) c.2690T>G (p.Leu897Ter) c.2357T>G (p.Leu786Ter) | ClinVar dbSNP |
| 7 | g.117595039T= | CA1737362794 | CFTR | c.2600T= (p.Leu867=) c.*2314T= (n.*2314T=) c.2417T= (p.Leu806=) c.*900T= (n.*900T=) c.*2424T= (n.*2424T=) c.2174T= (p.Leu725=) c.191T= (p.Leu64=) c.250T= c.1402-7787T= (n.1402-7787T=) c.2510T= (p.Leu837=) c.2690T= (p.Leu897=) c.2357T= (p.Leu786=) |