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.117595000_117595001delinsCT | CA1737362688 | CFTR | c.2561_2562delinsCT (p.Thr854=) c.*2275_*2276delinsCT (n.*2275_*2276delinsCT) c.2378_2379delinsCT (p.Thr793=) c.*861_*862delinsCT (n.*861_*862delinsCT) c.*2385_*2386delinsCT (n.*2385_*2386delinsCT) c.2135_2136delinsCT (p.Thr712=) c.152_153delinsCT (p.Thr51=) c.211_212delinsCT c.1402-7826_1402-7825delinsCT (n.1402-7826_1402-7825delinsCT) c.2471_2472delinsCT (p.Thr824=) c.2651_2652delinsCT (p.Thr884=) c.2318_2319delinsCT (p.Thr773=) | |
| 7 | g.117595000_117595001delinsTG | CA658797002 | CFTR | c.2561_2562delinsTG (p.Thr854Met) c.*2275_*2276delinsTG (n.*2275_*2276delinsTG) c.2378_2379delinsTG (p.Thr793Met) c.*861_*862delinsTG (n.*861_*862delinsTG) c.*2385_*2386delinsTG (n.*2385_*2386delinsTG) c.2135_2136delinsTG (p.Thr712Met) c.152_153delinsTG (p.Thr51Met) c.211_212delinsTG c.1402-7826_1402-7825delinsTG (n.1402-7826_1402-7825delinsTG) c.2471_2472delinsTG (p.Thr824Met) c.2651_2652delinsTG (p.Thr884Met) c.2318_2319delinsTG (p.Thr773Met) | ClinVar dbSNP |
| 7 | g.117595001del | CA326847 | CFTR | c.2562del (p.Val855SerfsTer5) c.*2276del (n.*2276del) c.2379del (p.Val794SerfsTer5) c.*862del (n.*862del) c.*2386del (n.*2386del) c.2136del (p.Val713SerfsTer5) c.153del (p.Val52SerfsTer5) c.212del c.1402-7825del (n.1402-7825del) c.2472del (p.Val825SerfsTer5) c.2652del (p.Val885SerfsTer5) c.2319del (p.Val774SerfsTer5) | dbSNP |
| 7 | g.117595001T>A | CA4451227 | CFTR | c.2562T>A (p.Thr854=) c.*2276T>A (n.*2276T>A) c.2379T>A (p.Thr793=) c.*862T>A (n.*862T>A) c.*2386T>A (n.*2386T>A) c.2136T>A (p.Thr712=) c.153T>A (p.Thr51=) c.212T>A c.1402-7825T>A (n.1402-7825T>A) c.2472T>A (p.Thr824=) c.2652T>A (p.Thr884=) c.2319T>A (p.Thr773=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117595001T>C | CA457227599 | CFTR | c.2562T>C (p.Thr854=) c.*2276T>C (n.*2276T>C) c.2379T>C (p.Thr793=) c.*862T>C (n.*862T>C) c.*2386T>C (n.*2386T>C) c.2136T>C (p.Thr712=) c.153T>C (p.Thr51=) c.212T>C c.1402-7825T>C (n.1402-7825T>C) c.2472T>C (p.Thr824=) c.2652T>C (p.Thr884=) c.2319T>C (p.Thr773=) | |
| 7 | g.117595001T>G | CA132752 | CFTR | c.2562T>G (p.Thr854=) c.*2276T>G (n.*2276T>G) c.2379T>G (p.Thr793=) c.*862T>G (n.*862T>G) c.*2386T>G (n.*2386T>G) c.2136T>G (p.Thr712=) c.153T>G (p.Thr51=) c.212T>G c.1402-7825T>G (n.1402-7825T>G) c.2472T>G (p.Thr824=) c.2652T>G (p.Thr884=) c.2319T>G (p.Thr773=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117595001T= | CA1737362695 | CFTR | c.2562T= (p.Thr854=) c.*2276T= (n.*2276T=) c.2379T= (p.Thr793=) c.*862T= (n.*862T=) c.*2386T= (n.*2386T=) c.2136T= (p.Thr712=) c.153T= (p.Thr51=) c.212T= c.1402-7825T= (n.1402-7825T=) c.2472T= (p.Thr824=) c.2652T= (p.Thr884=) c.2319T= (p.Thr773=) | |
| 7 | g.117595001_117595002delinsGA | CA915945430 | CFTR | c.2562_2563delinsGA (p.Val855Ile) c.*2276_*2277delinsGA (n.*2276_*2277delinsGA) c.2379_2380delinsGA (p.Val794Ile) c.*862_*863delinsGA (n.*862_*863delinsGA) c.*2386_*2387delinsGA (n.*2386_*2387delinsGA) c.2136_2137delinsGA (p.Val713Ile) c.153_154delinsGA (p.Val52Ile) c.212_213delinsGA c.1402-7825_1402-7824delinsGA (n.1402-7825_1402-7824delinsGA) c.2472_2473delinsGA (p.Val825Ile) c.2652_2653delinsGA (p.Val885Ile) c.2319_2320delinsGA (p.Val774Ile) | ClinVar dbSNP |
| 7 | g.117595001_117595002delinsTG | CA1737362692 | CFTR | c.2562_2563delinsTG (p.Thr854=) c.*2276_*2277delinsTG (n.*2276_*2277delinsTG) c.2379_2380delinsTG (p.Thr793=) c.*862_*863delinsTG (n.*862_*863delinsTG) c.*2386_*2387delinsTG (n.*2386_*2387delinsTG) c.2136_2137delinsTG (p.Thr712=) c.153_154delinsTG (p.Thr51=) c.212_213delinsTG c.1402-7825_1402-7824delinsTG (n.1402-7825_1402-7824delinsTG) c.2472_2473delinsTG (p.Thr824=) c.2652_2653delinsTG (p.Thr884=) c.2319_2320delinsTG (p.Thr773=) | |
| 7 | g.117595002G>A | CA326848 | CFTR | c.2563G>A (p.Val855Ile) c.*2277G>A (n.*2277G>A) c.2380G>A (p.Val794Ile) c.*863G>A (n.*863G>A) c.*2387G>A (n.*2387G>A) c.2137G>A (p.Val713Ile) c.154G>A (p.Val52Ile) c.213G>A c.1402-7824G>A (n.1402-7824G>A) c.2473G>A (p.Val825Ile) c.2653G>A (p.Val885Ile) c.2320G>A (p.Val774Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117595002G>C | CA368983961 | CFTR | c.2563G>C (p.Val855Leu) c.*2277G>C (n.*2277G>C) c.2380G>C (p.Val794Leu) c.*863G>C (n.*863G>C) c.*2387G>C (n.*2387G>C) c.2137G>C (p.Val713Leu) c.154G>C (p.Val52Leu) c.213G>C c.1402-7824G>C (n.1402-7824G>C) c.2473G>C (p.Val825Leu) c.2653G>C (p.Val885Leu) c.2320G>C (p.Val774Leu) | |
| 7 | g.117595002G= | CA1737362703 | CFTR | c.2563G= (p.Val855=) c.*2277G= (n.*2277G=) c.2380G= (p.Val794=) c.*863G= (n.*863G=) c.*2387G= (n.*2387G=) c.2137G= (p.Val713=) c.154G= (p.Val52=) c.213G= c.1402-7824G= (n.1402-7824G=) c.2473G= (p.Val825=) c.2653G= (p.Val885=) c.2320G= (p.Val774=) | |
| 7 | g.117595002G>T | CA368983960 | CFTR | c.2563G>T (p.Val855Phe) c.*2277G>T (n.*2277G>T) c.2380G>T (p.Val794Phe) c.*863G>T (n.*863G>T) c.*2387G>T (n.*2387G>T) c.2137G>T (p.Val713Phe) c.154G>T (p.Val52Phe) c.213G>T c.1402-7824G>T (n.1402-7824G>T) c.2473G>T (p.Val825Phe) c.2653G>T (p.Val885Phe) c.2320G>T (p.Val774Phe) | COSMIC |
| 7 | g.117595003T>A | CA368983962 | CFTR | c.2564T>A (p.Val855Asp) c.*2278T>A (n.*2278T>A) c.2381T>A (p.Val794Asp) c.*864T>A (n.*864T>A) c.*2388T>A (n.*2388T>A) c.2138T>A (p.Val713Asp) c.155T>A (p.Val52Asp) c.214T>A c.1402-7823T>A (n.1402-7823T>A) c.2474T>A (p.Val825Asp) c.2654T>A (p.Val885Asp) c.2321T>A (p.Val774Asp) | |
| 7 | g.117595003T>C | CA368983963 | CFTR | c.2564T>C (p.Val855Ala) c.*2278T>C (n.*2278T>C) c.2381T>C (p.Val794Ala) c.*864T>C (n.*864T>C) c.*2388T>C (n.*2388T>C) c.2138T>C (p.Val713Ala) c.155T>C (p.Val52Ala) c.214T>C c.1402-7823T>C (n.1402-7823T>C) c.2474T>C (p.Val825Ala) c.2654T>C (p.Val885Ala) c.2321T>C (p.Val774Ala) | COSMIC |
| 7 | g.117595003T>G | CA368983964 | CFTR | c.2564T>G (p.Val855Gly) c.*2278T>G (n.*2278T>G) c.2381T>G (p.Val794Gly) c.*864T>G (n.*864T>G) c.*2388T>G (n.*2388T>G) c.2138T>G (p.Val713Gly) c.155T>G (p.Val52Gly) c.214T>G c.1402-7823T>G (n.1402-7823T>G) c.2474T>G (p.Val825Gly) c.2654T>G (p.Val885Gly) c.2321T>G (p.Val774Gly) | |
| 7 | g.117595004C>A | CA457227601 | CFTR | c.2565C>A (p.Val855=) c.*2279C>A (n.*2279C>A) c.2382C>A (p.Val794=) c.*865C>A (n.*865C>A) c.*2389C>A (n.*2389C>A) c.2139C>A (p.Val713=) c.156C>A (p.Val52=) c.215C>A c.1402-7822C>A (n.1402-7822C>A) c.2475C>A (p.Val825=) c.2655C>A (p.Val885=) c.2322C>A (p.Val774=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117595004C= | CA1737362707 | CFTR | c.2565C= (p.Val855=) c.*2279C= (n.*2279C=) c.2382C= (p.Val794=) c.*865C= (n.*865C=) c.*2389C= (n.*2389C=) c.2139C= (p.Val713=) c.156C= (p.Val52=) c.215C= c.1402-7822C= (n.1402-7822C=) c.2475C= (p.Val825=) c.2655C= (p.Val885=) c.2322C= (p.Val774=) | |
| 7 | g.117595004C>G | CA457227602 | CFTR | c.2565C>G (p.Val855=) c.*2279C>G (n.*2279C>G) c.2382C>G (p.Val794=) c.*865C>G (n.*865C>G) c.*2389C>G (n.*2389C>G) c.2139C>G (p.Val713=) c.156C>G (p.Val52=) c.215C>G c.1402-7822C>G (n.1402-7822C>G) c.2475C>G (p.Val825=) c.2655C>G (p.Val885=) c.2322C>G (p.Val774=) | ClinVar dbSNP |
| 7 | g.117595004C>T | CA457227603 | CFTR | c.2565C>T (p.Val855=) c.*2279C>T (n.*2279C>T) c.2382C>T (p.Val794=) c.*865C>T (n.*865C>T) c.*2389C>T (n.*2389C>T) c.2139C>T (p.Val713=) c.156C>T (p.Val52=) c.215C>T c.1402-7822C>T (n.1402-7822C>T) c.2475C>T (p.Val825=) c.2655C>T (p.Val885=) c.2322C>T (p.Val774=) | |
| 7 | g.117595005C>A | CA368983965 | CFTR | c.2566C>A (p.His856Asn) c.*2280C>A (n.*2280C>A) c.2383C>A (p.His795Asn) c.*866C>A (n.*866C>A) c.*2390C>A (n.*2390C>A) c.2140C>A (p.His714Asn) c.157C>A (p.His53Asn) c.216C>A c.1402-7821C>A (n.1402-7821C>A) c.2476C>A (p.His826Asn) c.2656C>A (p.His886Asn) c.2323C>A (p.His775Asn) | |
| 7 | g.117595005C>G | CA368983966 | CFTR | c.2566C>G (p.His856Asp) c.*2280C>G (n.*2280C>G) c.2383C>G (p.His795Asp) c.*866C>G (n.*866C>G) c.*2390C>G (n.*2390C>G) c.2140C>G (p.His714Asp) c.157C>G (p.His53Asp) c.216C>G c.1402-7821C>G (n.1402-7821C>G) c.2476C>G (p.His826Asp) c.2656C>G (p.His886Asp) c.2323C>G (p.His775Asp) | |
| 7 | g.117595005C>T | CA368983967 | CFTR | c.2566C>T (p.His856Tyr) c.*2280C>T (n.*2280C>T) c.2383C>T (p.His795Tyr) c.*866C>T (n.*866C>T) c.*2390C>T (n.*2390C>T) c.2140C>T (p.His714Tyr) c.157C>T (p.His53Tyr) c.216C>T c.1402-7821C>T (n.1402-7821C>T) c.2476C>T (p.His826Tyr) c.2656C>T (p.His886Tyr) c.2323C>T (p.His775Tyr) | gnomAD v4 |
| 7 | g.117595005_117595006insTAC | CA4451228 | CFTR | c.2566_2567insTAC (p.Val855_His856insLeu) c.*2280_*2281insTAC (n.*2280_*2281insTAC) c.2383_2384insTAC (p.Val794_His795insLeu) c.*866_*867insTAC (n.*866_*867insTAC) c.*2390_*2391insTAC (n.*2390_*2391insTAC) c.2140_2141insTAC (p.Val713_His714insLeu) c.157_158insTAC (p.Val52_His53insLeu) c.216_217insTAC c.1402-7821_1402-7820insTAC (n.1402-7821_1402-7820insTAC) c.2476_2477insTAC (p.Val825_His826insLeu) c.2656_2657insTAC (p.Val885_His886insLeu) c.2323_2324insTAC (p.Val774_His775insLeu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117595006A>C | CA368983968 | CFTR | c.2567A>C (p.His856Pro) c.*2281A>C (n.*2281A>C) c.2384A>C (p.His795Pro) c.*867A>C (n.*867A>C) c.*2391A>C (n.*2391A>C) c.2141A>C (p.His714Pro) c.158A>C (p.His53Pro) c.217A>C c.1402-7820A>C (n.1402-7820A>C) c.2477A>C (p.His826Pro) c.2657A>C (p.His886Pro) c.2324A>C (p.His775Pro) | |
| 7 | g.117595006A>G | CA368983969 | CFTR | c.2567A>G (p.His856Arg) c.*2281A>G (n.*2281A>G) c.2384A>G (p.His795Arg) c.*867A>G (n.*867A>G) c.*2391A>G (n.*2391A>G) c.2141A>G (p.His714Arg) c.158A>G (p.His53Arg) c.217A>G c.1402-7820A>G (n.1402-7820A>G) c.2477A>G (p.His826Arg) c.2657A>G (p.His886Arg) c.2324A>G (p.His775Arg) | |
| 7 | g.117595006A>T | CA368983970 | CFTR | c.2567A>T (p.His856Leu) c.*2281A>T (n.*2281A>T) c.2384A>T (p.His795Leu) c.*867A>T (n.*867A>T) c.*2391A>T (n.*2391A>T) c.2141A>T (p.His714Leu) c.158A>T (p.His53Leu) c.217A>T c.1402-7820A>T (n.1402-7820A>T) c.2477A>T (p.His826Leu) c.2657A>T (p.His886Leu) c.2324A>T (p.His775Leu) | |
| 7 | g.117595007C>A | CA368983971 | CFTR | c.2568C>A (p.His856Gln) c.*2282C>A (n.*2282C>A) c.2385C>A (p.His795Gln) c.*868C>A (n.*868C>A) c.*2392C>A (n.*2392C>A) c.2142C>A (p.His714Gln) c.159C>A (p.His53Gln) c.218C>A c.1402-7819C>A (n.1402-7819C>A) c.2478C>A (p.His826Gln) c.2658C>A (p.His886Gln) c.2325C>A (p.His775Gln) | |
| 7 | g.117595007C= | CA1737362715 | CFTR | c.2568C= (p.His856=) c.*2282C= (n.*2282C=) c.2385C= (p.His795=) c.*868C= (n.*868C=) c.*2392C= (n.*2392C=) c.2142C= (p.His714=) c.159C= (p.His53=) c.218C= c.1402-7819C= (n.1402-7819C=) c.2478C= (p.His826=) c.2658C= (p.His886=) c.2325C= (p.His775=) | |
| 7 | g.117595007C>G | CA368983972 | CFTR | c.2568C>G (p.His856Gln) c.*2282C>G (n.*2282C>G) c.2385C>G (p.His795Gln) c.*868C>G (n.*868C>G) c.*2392C>G (n.*2392C>G) c.2142C>G (p.His714Gln) c.159C>G (p.His53Gln) c.218C>G c.1402-7819C>G (n.1402-7819C>G) c.2478C>G (p.His826Gln) c.2658C>G (p.His886Gln) c.2325C>G (p.His775Gln) | |
| 7 | g.117595007C>T | CA4451229 | CFTR | c.2568C>T (p.His856=) c.*2282C>T (n.*2282C>T) c.2385C>T (p.His795=) c.*868C>T (n.*868C>T) c.*2392C>T (n.*2392C>T) c.2142C>T (p.His714=) c.159C>T (p.His53=) c.218C>T c.1402-7819C>T (n.1402-7819C>T) c.2478C>T (p.His826=) c.2658C>T (p.His886=) c.2325C>T (p.His775=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117595008A>C | CA368983974 | CFTR | c.2569A>C (p.Lys857Gln) c.*2283A>C (n.*2283A>C) c.2386A>C (p.Lys796Gln) c.*869A>C (n.*869A>C) c.*2393A>C (n.*2393A>C) c.2143A>C (p.Lys715Gln) c.160A>C (p.Lys54Gln) c.219A>C c.1402-7818A>C (n.1402-7818A>C) c.2479A>C (p.Lys827Gln) c.2659A>C (p.Lys887Gln) c.2326A>C (p.Lys776Gln) | |
| 7 | g.117595008A>G | CA368983975 | CFTR | c.2569A>G (p.Lys857Glu) c.*2283A>G (n.*2283A>G) c.2386A>G (p.Lys796Glu) c.*869A>G (n.*869A>G) c.*2393A>G (n.*2393A>G) c.2143A>G (p.Lys715Glu) c.160A>G (p.Lys54Glu) c.219A>G c.1402-7818A>G (n.1402-7818A>G) c.2479A>G (p.Lys827Glu) c.2659A>G (p.Lys887Glu) c.2326A>G (p.Lys776Glu) | gnomAD v4 |
| 7 | g.117595008A>T | CA368983973 | CFTR | c.2569A>T (p.Lys857Ter) c.*2283A>T (n.*2283A>T) c.2386A>T (p.Lys796Ter) c.*869A>T (n.*869A>T) c.*2393A>T (n.*2393A>T) c.2143A>T (p.Lys715Ter) c.160A>T (p.Lys54Ter) c.219A>T c.1402-7818A>T (n.1402-7818A>T) c.2479A>T (p.Lys827Ter) c.2659A>T (p.Lys887Ter) c.2326A>T (p.Lys776Ter) | |
| 7 | g.117595009A= | CA1737362720 | CFTR | c.2570A= (p.Lys857=) c.*2284A= (n.*2284A=) c.2387A= (p.Lys796=) c.*870A= (n.*870A=) c.*2394A= (n.*2394A=) c.2144A= (p.Lys715=) c.161A= (p.Lys54=) c.220A= c.1402-7817A= (n.1402-7817A=) c.2480A= (p.Lys827=) c.2660A= (p.Lys887=) c.2327A= (p.Lys776=) | |
| 7 | g.117595009A>C | CA368983978 | CFTR | c.2570A>C (p.Lys857Thr) c.*2284A>C (n.*2284A>C) c.2387A>C (p.Lys796Thr) c.*870A>C (n.*870A>C) c.*2394A>C (n.*2394A>C) c.2144A>C (p.Lys715Thr) c.161A>C (p.Lys54Thr) c.220A>C c.1402-7817A>C (n.1402-7817A>C) c.2480A>C (p.Lys827Thr) c.2660A>C (p.Lys887Thr) c.2327A>C (p.Lys776Thr) | |
| 7 | g.117595009A>G | CA368983976 | CFTR | c.2570A>G (p.Lys857Arg) c.*2284A>G (n.*2284A>G) c.2387A>G (p.Lys796Arg) c.*870A>G (n.*870A>G) c.*2394A>G (n.*2394A>G) c.2144A>G (p.Lys715Arg) c.161A>G (p.Lys54Arg) c.220A>G c.1402-7817A>G (n.1402-7817A>G) c.2480A>G (p.Lys827Arg) c.2660A>G (p.Lys887Arg) c.2327A>G (p.Lys776Arg) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117595009A>T | CA368983977 | CFTR | c.2570A>T (p.Lys857Met) c.*2284A>T (n.*2284A>T) c.2387A>T (p.Lys796Met) c.*870A>T (n.*870A>T) c.*2394A>T (n.*2394A>T) c.2144A>T (p.Lys715Met) c.161A>T (p.Lys54Met) c.220A>T c.1402-7817A>T (n.1402-7817A>T) c.2480A>T (p.Lys827Met) c.2660A>T (p.Lys887Met) c.2327A>T (p.Lys776Met) | |
| 7 | g.117595010G>A | CA326850 | CFTR | c.2571G>A (p.Lys857=) c.*2285G>A (n.*2285G>A) c.2388G>A (p.Lys796=) c.*871G>A (n.*871G>A) c.*2395G>A (n.*2395G>A) c.2145G>A (p.Lys715=) c.162G>A (p.Lys54=) c.221G>A c.1402-7816G>A (n.1402-7816G>A) c.2481G>A (p.Lys827=) c.2661G>A (p.Lys887=) c.2328G>A (p.Lys776=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117595010G>C | CA4451230 | CFTR | c.2571G>C (p.Lys857Asn) c.*2285G>C (n.*2285G>C) c.2388G>C (p.Lys796Asn) c.*871G>C (n.*871G>C) c.*2395G>C (n.*2395G>C) c.2145G>C (p.Lys715Asn) c.162G>C (p.Lys54Asn) c.221G>C c.1402-7816G>C (n.1402-7816G>C) c.2481G>C (p.Lys827Asn) c.2661G>C (p.Lys887Asn) c.2328G>C (p.Lys776Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117595010G= | CA1737362728 | CFTR | c.2571G= (p.Lys857=) c.*2285G= (n.*2285G=) c.2388G= (p.Lys796=) c.*871G= (n.*871G=) c.*2395G= (n.*2395G=) c.2145G= (p.Lys715=) c.162G= (p.Lys54=) c.221G= c.1402-7816G= (n.1402-7816G=) c.2481G= (p.Lys827=) c.2661G= (p.Lys887=) c.2328G= (p.Lys776=) | |
| 7 | g.117595010G>T | CA368983979 | CFTR | c.2571G>T (p.Lys857Asn) c.*2285G>T (n.*2285G>T) c.2388G>T (p.Lys796Asn) c.*871G>T (n.*871G>T) c.*2395G>T (n.*2395G>T) c.2145G>T (p.Lys715Asn) c.162G>T (p.Lys54Asn) c.221G>T c.1402-7816G>T (n.1402-7816G>T) c.2481G>T (p.Lys827Asn) c.2661G>T (p.Lys887Asn) c.2328G>T (p.Lys776Asn) | |
| 7 | g.117595011A>C | CA368983980 | CFTR | c.2572A>C (p.Ser858Arg) c.*2286A>C (n.*2286A>C) c.2389A>C (p.Ser797Arg) c.*872A>C (n.*872A>C) c.*2396A>C (n.*2396A>C) c.2146A>C (p.Ser716Arg) c.163A>C (p.Ser55Arg) c.222A>C c.1402-7815A>C (n.1402-7815A>C) c.2482A>C (p.Ser828Arg) c.2662A>C (p.Ser888Arg) c.2329A>C (p.Ser777Arg) | |
| 7 | g.117595011A>G | CA368983981 | CFTR | c.2572A>G (p.Ser858Gly) c.*2286A>G (n.*2286A>G) c.2389A>G (p.Ser797Gly) c.*872A>G (n.*872A>G) c.*2396A>G (n.*2396A>G) c.2146A>G (p.Ser716Gly) c.163A>G (p.Ser55Gly) c.222A>G c.1402-7815A>G (n.1402-7815A>G) c.2482A>G (p.Ser828Gly) c.2662A>G (p.Ser888Gly) c.2329A>G (p.Ser777Gly) | gnomAD v4 |
| 7 | g.117595011A>T | CA368983982 | CFTR | c.2572A>T (p.Ser858Cys) c.*2286A>T (n.*2286A>T) c.2389A>T (p.Ser797Cys) c.*872A>T (n.*872A>T) c.*2396A>T (n.*2396A>T) c.2146A>T (p.Ser716Cys) c.163A>T (p.Ser55Cys) c.222A>T c.1402-7815A>T (n.1402-7815A>T) c.2482A>T (p.Ser828Cys) c.2662A>T (p.Ser888Cys) c.2329A>T (p.Ser777Cys) |