UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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.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=) | |
| 7 | g.117595040A>C | CA368984046 | CFTR | c.2601A>C (p.Leu867Phe) c.*2315A>C (n.*2315A>C) c.2418A>C (p.Leu806Phe) c.*901A>C (n.*901A>C) c.*2425A>C (n.*2425A>C) c.2175A>C (p.Leu725Phe) c.192A>C (p.Leu64Phe) c.251A>C c.1402-7786A>C (n.1402-7786A>C) c.2511A>C (p.Leu837Phe) c.2691A>C (p.Leu897Phe) c.2358A>C (p.Leu786Phe) | |
| 7 | g.117595040A>G | CA457227646 | CFTR | c.2601A>G (p.Leu867=) c.*2315A>G (n.*2315A>G) c.2418A>G (p.Leu806=) c.*901A>G (n.*901A>G) c.*2425A>G (n.*2425A>G) c.2175A>G (p.Leu725=) c.192A>G (p.Leu64=) c.251A>G c.1402-7786A>G (n.1402-7786A>G) c.2511A>G (p.Leu837=) c.2691A>G (p.Leu897=) c.2358A>G (p.Leu786=) | |
| 7 | g.117595040A>T | CA368984045 | CFTR | c.2601A>T (p.Leu867Phe) c.*2315A>T (n.*2315A>T) c.2418A>T (p.Leu806Phe) c.*901A>T (n.*901A>T) c.*2425A>T (n.*2425A>T) c.2175A>T (p.Leu725Phe) c.192A>T (p.Leu64Phe) c.251A>T c.1402-7786A>T (n.1402-7786A>T) c.2511A>T (p.Leu837Phe) c.2691A>T (p.Leu897Phe) c.2358A>T (p.Leu786Phe) | |
| 7 | g.117595040dup | CA326861 | CFTR | c.2601dup (p.Val868SerfsTer28) c.*2315dup (n.*2315dup) c.2418dup (p.Val807SerfsTer28) c.*901dup (n.*901dup) c.*2425dup (n.*2425dup) c.2175dup (p.Val726SerfsTer28) c.192dup (p.Val65SerfsTer28) c.251dup c.1402-7786dup (n.1402-7786dup) c.2511dup (p.Val838SerfsTer28) c.2691dup (p.Val898SerfsTer28) c.2358dup (p.Val787SerfsTer28) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117595040_117595041delinsAG | CA1737362809 | CFTR | c.2601_2602delinsAG (p.Leu867=) c.*2315_*2316delinsAG (n.*2315_*2316delinsAG) c.2418_2419delinsAG (p.Leu806=) c.*901_*902delinsAG (n.*901_*902delinsAG) c.*2425_*2426delinsAG (n.*2425_*2426delinsAG) c.2175_2176delinsAG (p.Leu725=) c.192_193delinsAG (p.Leu64=) c.251_252delinsAG c.1402-7786_1402-7785delinsAG (n.1402-7786_1402-7785delinsAG) c.2511_2512delinsAG (p.Leu837=) c.2691_2692delinsAG (p.Leu897=) c.2358_2359delinsAG (p.Leu786=) | |
| 7 | g.117595041del | CA326862 | CFTR | c.2602del (p.Val868Ter) c.*2316del (n.*2316del) c.2419del (p.Val807Ter) c.*902del (n.*902del) c.*2426del (n.*2426del) c.2176del (p.Val726Ter) c.193del (p.Val65Ter) c.252del c.1402-7785del (n.1402-7785del) c.2512del (p.Val838Ter) c.2692del (p.Val898Ter) c.2359del (p.Val787Ter) | dbSNP |
| 7 | g.117595041G>A | CA368984047 | CFTR | c.2602G>A (p.Val868Ile) c.*2316G>A (n.*2316G>A) c.2419G>A (p.Val807Ile) c.*902G>A (n.*902G>A) c.*2426G>A (n.*2426G>A) c.2176G>A (p.Val726Ile) c.193G>A (p.Val65Ile) c.252G>A c.1402-7785G>A (n.1402-7785G>A) c.2512G>A (p.Val838Ile) c.2692G>A (p.Val898Ile) c.2359G>A (p.Val787Ile) | |
| 7 | g.117595041G>C | CA368984048 | CFTR | c.2602G>C (p.Val868Leu) c.*2316G>C (n.*2316G>C) c.2419G>C (p.Val807Leu) c.*902G>C (n.*902G>C) c.*2426G>C (n.*2426G>C) c.2176G>C (p.Val726Leu) c.193G>C (p.Val65Leu) c.252G>C c.1402-7785G>C (n.1402-7785G>C) c.2512G>C (p.Val838Leu) c.2692G>C (p.Val898Leu) c.2359G>C (p.Val787Leu) | |
| 7 | g.117595041G>T | CA368984049 | CFTR | c.2602G>T (p.Val868Leu) c.*2316G>T (n.*2316G>T) c.2419G>T (p.Val807Leu) c.*902G>T (n.*902G>T) c.*2426G>T (n.*2426G>T) c.2176G>T (p.Val726Leu) c.193G>T (p.Val65Leu) c.252G>T c.1402-7785G>T (n.1402-7785G>T) c.2512G>T (p.Val838Leu) c.2692G>T (p.Val898Leu) c.2359G>T (p.Val787Leu) | |
| 7 | g.117595041delinsAT | CA2695208529 | CFTR | c.2602delinsAT (p.Val868IlefsTer28) c.*2316delinsAT (n.*2316delinsAT) c.2419delinsAT (p.Val807IlefsTer28) c.*902delinsAT (n.*902delinsAT) c.*2426delinsAT (n.*2426delinsAT) c.2176delinsAT (p.Val726IlefsTer28) c.193delinsAT (p.Val65IlefsTer28) c.252delinsAT c.1402-7785delinsAT (n.1402-7785delinsAT) c.2512delinsAT (p.Val838IlefsTer28) c.2692delinsAT (p.Val898IlefsTer28) c.2359delinsAT (p.Val787IlefsTer28) | |
| 7 | g.117595042T>A | CA368984050 | CFTR | c.2603T>A (p.Val868Glu) c.*2317T>A (n.*2317T>A) c.2420T>A (p.Val807Glu) c.*903T>A (n.*903T>A) c.*2427T>A (n.*2427T>A) c.2177T>A (p.Val726Glu) c.194T>A (p.Val65Glu) c.253T>A c.1402-7784T>A (n.1402-7784T>A) c.2513T>A (p.Val838Glu) c.2693T>A (p.Val898Glu) c.2360T>A (p.Val787Glu) | |
| 7 | g.117595042T>C | CA368984051 | CFTR | c.2603T>C (p.Val868Ala) c.*2317T>C (n.*2317T>C) c.2420T>C (p.Val807Ala) c.*903T>C (n.*903T>C) c.*2427T>C (n.*2427T>C) c.2177T>C (p.Val726Ala) c.194T>C (p.Val65Ala) c.253T>C c.1402-7784T>C (n.1402-7784T>C) c.2513T>C (p.Val838Ala) c.2693T>C (p.Val898Ala) c.2360T>C (p.Val787Ala) | dbSNP |
| 7 | g.117595042T>G | CA368984052 | CFTR | c.2603T>G (p.Val868Gly) c.*2317T>G (n.*2317T>G) c.2420T>G (p.Val807Gly) c.*903T>G (n.*903T>G) c.*2427T>G (n.*2427T>G) c.2177T>G (p.Val726Gly) c.194T>G (p.Val65Gly) c.253T>G c.1402-7784T>G (n.1402-7784T>G) c.2513T>G (p.Val838Gly) c.2693T>G (p.Val898Gly) c.2360T>G (p.Val787Gly) | |
| 7 | g.117595043A= | CA1737362815 | CFTR | c.2604A= (p.Val868=) c.*2318A= (n.*2318A=) c.2421A= (p.Val807=) c.*904A= (n.*904A=) c.*2428A= (n.*2428A=) c.2178A= (p.Val726=) c.195A= (p.Val65=) c.254A= c.1402-7783A= (n.1402-7783A=) c.2514A= (p.Val838=) c.2694A= (p.Val898=) c.2361A= (p.Val787=) | |
| 7 | g.117595043A>C | CA457227648 | CFTR | c.2604A>C (p.Val868=) c.*2318A>C (n.*2318A>C) c.2421A>C (p.Val807=) c.*904A>C (n.*904A>C) c.*2428A>C (n.*2428A>C) c.2178A>C (p.Val726=) c.195A>C (p.Val65=) c.254A>C c.1402-7783A>C (n.1402-7783A>C) c.2514A>C (p.Val838=) c.2694A>C (p.Val898=) c.2361A>C (p.Val787=) | |
| 7 | g.117595043A>G | CA164950062 | CFTR | c.2604A>G (p.Val868=) c.*2318A>G (n.*2318A>G) c.2421A>G (p.Val807=) c.*904A>G (n.*904A>G) c.*2428A>G (n.*2428A>G) c.2178A>G (p.Val726=) c.195A>G (p.Val65=) c.254A>G c.1402-7783A>G (n.1402-7783A>G) c.2514A>G (p.Val838=) c.2694A>G (p.Val898=) c.2361A>G (p.Val787=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117595043A>T | CA457227650 | CFTR | c.2604A>T (p.Val868=) c.*2318A>T (n.*2318A>T) c.2421A>T (p.Val807=) c.*904A>T (n.*904A>T) c.*2428A>T (n.*2428A>T) c.2178A>T (p.Val726=) c.195A>T (p.Val65=) c.254A>T c.1402-7783A>T (n.1402-7783A>T) c.2514A>T (p.Val838=) c.2694A>T (p.Val898=) c.2361A>T (p.Val787=) | |
| 7 | g.117595044dup | CA2580076595 | CFTR | c.2605dup (p.Ile869AsnfsTer27) c.*2319dup (n.*2319dup) c.2422dup (p.Ile808AsnfsTer27) c.*905dup (n.*905dup) c.*2429dup (n.*2429dup) c.2179dup (p.Ile727AsnfsTer27) c.196dup (p.Ile66AsnfsTer27) c.255dup c.1402-7782dup (n.1402-7782dup) c.2515dup (p.Ile839AsnfsTer27) c.2695dup (p.Ile899AsnfsTer27) c.2362dup (p.Ile788AsnfsTer27) | ClinVar |
| 7 | g.117595044del | CA2580076596 | CFTR | c.2605del (p.Ile869PhefsTer?) c.*2319del (n.*2319del) c.2422del (p.Ile808PhefsTer?) c.*905del (n.*905del) c.*2429del (n.*2429del) c.2179del (p.Ile727PhefsTer?) c.196del (p.Ile66PhefsTer?) c.255del c.1402-7782del (n.1402-7782del) c.2515del (p.Ile839PhefsTer?) c.2695del (p.Ile899PhefsTer?) c.2362del (p.Ile788PhefsTer?) | ClinVar |
| 7 | g.117595044A>C | CA368984053 | CFTR | c.2605A>C (p.Ile869Leu) c.*2319A>C (n.*2319A>C) c.2422A>C (p.Ile808Leu) c.*905A>C (n.*905A>C) c.*2429A>C (n.*2429A>C) c.2179A>C (p.Ile727Leu) c.196A>C (p.Ile66Leu) c.255A>C c.1402-7782A>C (n.1402-7782A>C) c.2515A>C (p.Ile839Leu) c.2695A>C (p.Ile899Leu) c.2362A>C (p.Ile788Leu) | |
| 7 | g.117595044A>G | CA368984054 | CFTR | c.2605A>G (p.Ile869Val) c.*2319A>G (n.*2319A>G) c.2422A>G (p.Ile808Val) c.*905A>G (n.*905A>G) c.*2429A>G (n.*2429A>G) c.2179A>G (p.Ile727Val) c.196A>G (p.Ile66Val) c.255A>G c.1402-7782A>G (n.1402-7782A>G) c.2515A>G (p.Ile839Val) c.2695A>G (p.Ile899Val) c.2362A>G (p.Ile788Val) | ClinVar gnomAD v4 COSMIC |
| 7 | g.117595044A>T | CA368984055 | CFTR | c.2605A>T (p.Ile869Phe) c.*2319A>T (n.*2319A>T) c.2422A>T (p.Ile808Phe) c.*905A>T (n.*905A>T) c.*2429A>T (n.*2429A>T) c.2179A>T (p.Ile727Phe) c.196A>T (p.Ile66Phe) c.255A>T c.1402-7782A>T (n.1402-7782A>T) c.2515A>T (p.Ile839Phe) c.2695A>T (p.Ile899Phe) c.2362A>T (p.Ile788Phe) |