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.117592429G>A | CA457449578 | CFTR | c.2262G>A (p.Val754=) c.*1976G>A (n.*1976G>A) c.2079G>A (p.Val693=) c.*562G>A (n.*562G>A) c.*2086G>A (n.*2086G>A) c.1836G>A (p.Val612=) c.1402-10397G>A (n.1402-10397G>A) c.2172G>A (p.Val724=) c.2352G>A (p.Val784=) c.2019G>A (p.Val673=) | COSMIC |
| 7 | g.117592429G>C | CA457449574 | CFTR | c.2262G>C (p.Val754=) c.*1976G>C (n.*1976G>C) c.2079G>C (p.Val693=) c.*562G>C (n.*562G>C) c.*2086G>C (n.*2086G>C) c.1836G>C (p.Val612=) c.1402-10397G>C (n.1402-10397G>C) c.2172G>C (p.Val724=) c.2352G>C (p.Val784=) c.2019G>C (p.Val673=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592429G= | CA1737395150 | CFTR | c.2262G= (p.Val754=) c.*1976G= (n.*1976G=) c.2079G= (p.Val693=) c.*562G= (n.*562G=) c.*2086G= (n.*2086G=) c.1836G= (p.Val612=) c.1402-10397G= (n.1402-10397G=) c.2172G= (p.Val724=) c.2352G= (p.Val784=) c.2019G= (p.Val673=) | |
| 7 | g.117592429G>T | CA457449575 | CFTR | c.2262G>T (p.Val754=) c.*1976G>T (n.*1976G>T) c.2079G>T (p.Val693=) c.*562G>T (n.*562G>T) c.*2086G>T (n.*2086G>T) c.1836G>T (p.Val612=) c.1402-10397G>T (n.1402-10397G>T) c.2172G>T (p.Val724=) c.2352G>T (p.Val784=) c.2019G>T (p.Val673=) | ClinVar |
| 7 | g.117592430A= | CA1737395154 | CFTR | c.2263A= (p.Ile755=) c.*1977A= (n.*1977A=) c.2080A= (p.Ile694=) c.*563A= (n.*563A=) c.*2087A= (n.*2087A=) c.1837A= (p.Ile613=) c.1402-10396A= (n.1402-10396A=) c.2173A= (p.Ile725=) c.2353A= (p.Ile785=) c.2020A= (p.Ile674=) | |
| 7 | g.117592430A>C | CA368980710 | CFTR | c.2263A>C (p.Ile755Leu) c.*1977A>C (n.*1977A>C) c.2080A>C (p.Ile694Leu) c.*563A>C (n.*563A>C) c.*2087A>C (n.*2087A>C) c.1837A>C (p.Ile613Leu) c.1402-10396A>C (n.1402-10396A>C) c.2173A>C (p.Ile725Leu) c.2353A>C (p.Ile785Leu) c.2020A>C (p.Ile674Leu) | |
| 7 | g.117592430A>G | CA368980715 | CFTR | c.2263A>G (p.Ile755Val) c.*1977A>G (n.*1977A>G) c.2080A>G (p.Ile694Val) c.*563A>G (n.*563A>G) c.*2087A>G (n.*2087A>G) c.1837A>G (p.Ile613Val) c.1402-10396A>G (n.1402-10396A>G) c.2173A>G (p.Ile725Val) c.2353A>G (p.Ile785Val) c.2020A>G (p.Ile674Val) | |
| 7 | g.117592430A>T | CA4451164 | CFTR | c.2263A>T (p.Ile755Phe) c.*1977A>T (n.*1977A>T) c.2080A>T (p.Ile694Phe) c.*563A>T (n.*563A>T) c.*2087A>T (n.*2087A>T) c.1837A>T (p.Ile613Phe) c.1402-10396A>T (n.1402-10396A>T) c.2173A>T (p.Ile725Phe) c.2353A>T (p.Ile785Phe) c.2020A>T (p.Ile674Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592431T>A | CA368980718 | CFTR | c.2264T>A (p.Ile755Asn) c.*1978T>A (n.*1978T>A) c.2081T>A (p.Ile694Asn) c.*564T>A (n.*564T>A) c.*2088T>A (n.*2088T>A) c.1838T>A (p.Ile613Asn) c.1402-10395T>A (n.1402-10395T>A) c.2174T>A (p.Ile725Asn) c.2354T>A (p.Ile785Asn) c.2021T>A (p.Ile674Asn) | |
| 7 | g.117592431T>C | CA368980720 | CFTR | c.2264T>C (p.Ile755Thr) c.*1978T>C (n.*1978T>C) c.2081T>C (p.Ile694Thr) c.*564T>C (n.*564T>C) c.*2088T>C (n.*2088T>C) c.1838T>C (p.Ile613Thr) c.1402-10395T>C (n.1402-10395T>C) c.2174T>C (p.Ile725Thr) c.2354T>C (p.Ile785Thr) c.2021T>C (p.Ile674Thr) | |
| 7 | g.117592431T>G | CA368980723 | CFTR | c.2264T>G (p.Ile755Ser) c.*1978T>G (n.*1978T>G) c.2081T>G (p.Ile694Ser) c.*564T>G (n.*564T>G) c.*2088T>G (n.*2088T>G) c.1838T>G (p.Ile613Ser) c.1402-10395T>G (n.1402-10395T>G) c.2174T>G (p.Ile725Ser) c.2354T>G (p.Ile785Ser) c.2021T>G (p.Ile674Ser) | |
| 7 | g.117592432C>A | CA457449584 | CFTR | c.2265C>A (p.Ile755=) c.*1979C>A (n.*1979C>A) c.2082C>A (p.Ile694=) c.*565C>A (n.*565C>A) c.*2089C>A (n.*2089C>A) c.1839C>A (p.Ile613=) c.1402-10394C>A (n.1402-10394C>A) c.2175C>A (p.Ile725=) c.2355C>A (p.Ile785=) c.2022C>A (p.Ile674=) | |
| 7 | g.117592432C>G | CA368980725 | CFTR | c.2265C>G (p.Ile755Met) c.*1979C>G (n.*1979C>G) c.2082C>G (p.Ile694Met) c.*565C>G (n.*565C>G) c.*2089C>G (n.*2089C>G) c.1839C>G (p.Ile613Met) c.1402-10394C>G (n.1402-10394C>G) c.2175C>G (p.Ile725Met) c.2355C>G (p.Ile785Met) c.2022C>G (p.Ile674Met) | |
| 7 | g.117592432C>T | CA457449586 | CFTR | c.2265C>T (p.Ile755=) c.*1979C>T (n.*1979C>T) c.2082C>T (p.Ile694=) c.*565C>T (n.*565C>T) c.*2089C>T (n.*2089C>T) c.1839C>T (p.Ile613=) c.1402-10394C>T (n.1402-10394C>T) c.2175C>T (p.Ile725=) c.2355C>T (p.Ile785=) c.2022C>T (p.Ile674=) | |
| 7 | g.117592433A= | CA1737395157 | CFTR | c.2266A= (p.Ser756=) c.*1980A= (n.*1980A=) c.2083A= (p.Ser695=) c.*566A= (n.*566A=) c.*2090A= (n.*2090A=) c.1840A= (p.Ser614=) c.1402-10393A= (n.1402-10393A=) c.2176A= (p.Ser726=) c.2356A= (p.Ser786=) c.2023A= (p.Ser675=) | |
| 7 | g.117592433A>C | CA368980729 | CFTR | c.2266A>C (p.Ser756Arg) c.*1980A>C (n.*1980A>C) c.2083A>C (p.Ser695Arg) c.*566A>C (n.*566A>C) c.*2090A>C (n.*2090A>C) c.1840A>C (p.Ser614Arg) c.1402-10393A>C (n.1402-10393A>C) c.2176A>C (p.Ser726Arg) c.2356A>C (p.Ser786Arg) c.2023A>C (p.Ser675Arg) | |
| 7 | g.117592433A>G | CA368980730 | CFTR | c.2266A>G (p.Ser756Gly) c.*1980A>G (n.*1980A>G) c.2083A>G (p.Ser695Gly) c.*566A>G (n.*566A>G) c.*2090A>G (n.*2090A>G) c.1840A>G (p.Ser614Gly) c.1402-10393A>G (n.1402-10393A>G) c.2176A>G (p.Ser726Gly) c.2356A>G (p.Ser786Gly) c.2023A>G (p.Ser675Gly) | |
| 7 | g.117592433A>T | CA368980732 | CFTR | c.2266A>T (p.Ser756Cys) c.*1980A>T (n.*1980A>T) c.2083A>T (p.Ser695Cys) c.*566A>T (n.*566A>T) c.*2090A>T (n.*2090A>T) c.1840A>T (p.Ser614Cys) c.1402-10393A>T (n.1402-10393A>T) c.2176A>T (p.Ser726Cys) c.2356A>T (p.Ser786Cys) c.2023A>T (p.Ser675Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592434G>A | CA368980736 | CFTR | c.2267G>A (p.Ser756Asn) c.*1981G>A (n.*1981G>A) c.2084G>A (p.Ser695Asn) c.*567G>A (n.*567G>A) c.*2091G>A (n.*2091G>A) c.1841G>A (p.Ser614Asn) c.1402-10392G>A (n.1402-10392G>A) c.2177G>A (p.Ser726Asn) c.2357G>A (p.Ser786Asn) c.2024G>A (p.Ser675Asn) | gnomAD v4 |
| 7 | g.117592434G>C | CA368980741 | CFTR | c.2267G>C (p.Ser756Thr) c.*1981G>C (n.*1981G>C) c.2084G>C (p.Ser695Thr) c.*567G>C (n.*567G>C) c.*2091G>C (n.*2091G>C) c.1841G>C (p.Ser614Thr) c.1402-10392G>C (n.1402-10392G>C) c.2177G>C (p.Ser726Thr) c.2357G>C (p.Ser786Thr) c.2024G>C (p.Ser675Thr) | |
| 7 | g.117592434G>T | CA368980738 | CFTR | c.2267G>T (p.Ser756Ile) c.*1981G>T (n.*1981G>T) c.2084G>T (p.Ser695Ile) c.*567G>T (n.*567G>T) c.*2091G>T (n.*2091G>T) c.1841G>T (p.Ser614Ile) c.1402-10392G>T (n.1402-10392G>T) c.2177G>T (p.Ser726Ile) c.2357G>T (p.Ser786Ile) c.2024G>T (p.Ser675Ile) | ClinVar gnomAD v4 |
| 7 | g.117592435C>A | CA368980744 | CFTR | c.2268C>A (p.Ser756Arg) c.*1982C>A (n.*1982C>A) c.2085C>A (p.Ser695Arg) c.*568C>A (n.*568C>A) c.*2092C>A (n.*2092C>A) c.1842C>A (p.Ser614Arg) c.1402-10391C>A (n.1402-10391C>A) c.2178C>A (p.Ser726Arg) c.2358C>A (p.Ser786Arg) c.2025C>A (p.Ser675Arg) | |
| 7 | g.117592435C>G | CA368980746 | CFTR | c.2268C>G (p.Ser756Arg) c.*1982C>G (n.*1982C>G) c.2085C>G (p.Ser695Arg) c.*568C>G (n.*568C>G) c.*2092C>G (n.*2092C>G) c.1842C>G (p.Ser614Arg) c.1402-10391C>G (n.1402-10391C>G) c.2178C>G (p.Ser726Arg) c.2358C>G (p.Ser786Arg) c.2025C>G (p.Ser675Arg) | |
| 7 | g.117592435C>T | CA457449598 | CFTR | c.2268C>T (p.Ser756=) c.*1982C>T (n.*1982C>T) c.2085C>T (p.Ser695=) c.*568C>T (n.*568C>T) c.*2092C>T (n.*2092C>T) c.1842C>T (p.Ser614=) c.1402-10391C>T (n.1402-10391C>T) c.2178C>T (p.Ser726=) c.2358C>T (p.Ser786=) c.2025C>T (p.Ser675=) | |
| 7 | g.117592436A= | CA1737395159 | CFTR | c.2269A= (p.Thr757=) c.*1983A= (n.*1983A=) c.2086A= (p.Thr696=) c.*569A= (n.*569A=) c.*2093A= (n.*2093A=) c.1843A= (p.Thr615=) c.1402-10390A= (n.1402-10390A=) c.2179A= (p.Thr727=) c.2359A= (p.Thr787=) c.2026A= (p.Thr676=) | |
| 7 | g.117592436A>C | CA368980750 | CFTR | c.2269A>C (p.Thr757Pro) c.*1983A>C (n.*1983A>C) c.2086A>C (p.Thr696Pro) c.*569A>C (n.*569A>C) c.*2093A>C (n.*2093A>C) c.1843A>C (p.Thr615Pro) c.1402-10390A>C (n.1402-10390A>C) c.2179A>C (p.Thr727Pro) c.2359A>C (p.Thr787Pro) c.2026A>C (p.Thr676Pro) | |
| 7 | g.117592436A>G | CA368980751 | CFTR | c.2269A>G (p.Thr757Ala) c.*1983A>G (n.*1983A>G) c.2086A>G (p.Thr696Ala) c.*569A>G (n.*569A>G) c.*2093A>G (n.*2093A>G) c.1843A>G (p.Thr615Ala) c.1402-10390A>G (n.1402-10390A>G) c.2179A>G (p.Thr727Ala) c.2359A>G (p.Thr787Ala) c.2026A>G (p.Thr676Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117592436A>T | CA368980753 | CFTR | c.2269A>T (p.Thr757Ser) c.*1983A>T (n.*1983A>T) c.2086A>T (p.Thr696Ser) c.*569A>T (n.*569A>T) c.*2093A>T (n.*2093A>T) c.1843A>T (p.Thr615Ser) c.1402-10390A>T (n.1402-10390A>T) c.2179A>T (p.Thr727Ser) c.2359A>T (p.Thr787Ser) c.2026A>T (p.Thr676Ser) | |
| 7 | g.117592437C>A | CA368980754 | CFTR | c.2270C>A (p.Thr757Asn) c.*1984C>A (n.*1984C>A) c.2087C>A (p.Thr696Asn) c.*570C>A (n.*570C>A) c.*2094C>A (n.*2094C>A) c.1844C>A (p.Thr615Asn) c.1402-10389C>A (n.1402-10389C>A) c.2180C>A (p.Thr727Asn) c.2360C>A (p.Thr787Asn) c.2027C>A (p.Thr676Asn) | |
| 7 | g.117592437C= | CA1737395161 | CFTR | c.2270C= (p.Thr757=) c.*1984C= (n.*1984C=) c.2087C= (p.Thr696=) c.*570C= (n.*570C=) c.*2094C= (n.*2094C=) c.1844C= (p.Thr615=) c.1402-10389C= (n.1402-10389C=) c.2180C= (p.Thr727=) c.2360C= (p.Thr787=) c.2027C= (p.Thr676=) | |
| 7 | g.117592437C>G | CA368980756 | CFTR | c.2270C>G (p.Thr757Ser) c.*1984C>G (n.*1984C>G) c.2087C>G (p.Thr696Ser) c.*570C>G (n.*570C>G) c.*2094C>G (n.*2094C>G) c.1844C>G (p.Thr615Ser) c.1402-10389C>G (n.1402-10389C>G) c.2180C>G (p.Thr727Ser) c.2360C>G (p.Thr787Ser) c.2027C>G (p.Thr676Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592437C>T | CA368980758 | CFTR | c.2270C>T (p.Thr757Ile) c.*1984C>T (n.*1984C>T) c.2087C>T (p.Thr696Ile) c.*570C>T (n.*570C>T) c.*2094C>T (n.*2094C>T) c.1844C>T (p.Thr615Ile) c.1402-10389C>T (n.1402-10389C>T) c.2180C>T (p.Thr727Ile) c.2360C>T (p.Thr787Ile) c.2027C>T (p.Thr676Ile) | ClinVar |
| 7 | g.117592438T>A | CA457449605 | CFTR | c.2271T>A (p.Thr757=) c.*1985T>A (n.*1985T>A) c.2088T>A (p.Thr696=) c.*571T>A (n.*571T>A) c.*2095T>A (n.*2095T>A) c.1845T>A (p.Thr615=) c.1402-10388T>A (n.1402-10388T>A) c.2181T>A (p.Thr727=) c.2361T>A (p.Thr787=) c.2028T>A (p.Thr676=) | |
| 7 | g.117592438T>C | CA457449608 | CFTR | c.2271T>C (p.Thr757=) c.*1985T>C (n.*1985T>C) c.2088T>C (p.Thr696=) c.*571T>C (n.*571T>C) c.*2095T>C (n.*2095T>C) c.1845T>C (p.Thr615=) c.1402-10388T>C (n.1402-10388T>C) c.2181T>C (p.Thr727=) c.2361T>C (p.Thr787=) c.2028T>C (p.Thr676=) | |
| 7 | g.117592438T>G | CA457449609 | CFTR | c.2271T>G (p.Thr757=) c.*1985T>G (n.*1985T>G) c.2088T>G (p.Thr696=) c.*571T>G (n.*571T>G) c.*2095T>G (n.*2095T>G) c.1845T>G (p.Thr615=) c.1402-10388T>G (n.1402-10388T>G) c.2181T>G (p.Thr727=) c.2361T>G (p.Thr787=) c.2028T>G (p.Thr676=) | |
| 7 | g.117592439G>A | CA368980761 | CFTR | c.2272G>A (p.Gly758Ser) c.*1986G>A (n.*1986G>A) c.2089G>A (p.Gly697Ser) c.*572G>A (n.*572G>A) c.*2096G>A (n.*2096G>A) c.1846G>A (p.Gly616Ser) c.1402-10387G>A (n.1402-10387G>A) c.2182G>A (p.Gly728Ser) c.2362G>A (p.Gly788Ser) c.2029G>A (p.Gly677Ser) | |
| 7 | g.117592439G>C | CA368980763 | CFTR | c.2272G>C (p.Gly758Arg) c.*1986G>C (n.*1986G>C) c.2089G>C (p.Gly697Arg) c.*572G>C (n.*572G>C) c.*2096G>C (n.*2096G>C) c.1846G>C (p.Gly616Arg) c.1402-10387G>C (n.1402-10387G>C) c.2182G>C (p.Gly728Arg) c.2362G>C (p.Gly788Arg) c.2029G>C (p.Gly677Arg) | |
| 7 | g.117592439G>T | CA368980765 | CFTR | c.2272G>T (p.Gly758Cys) c.*1986G>T (n.*1986G>T) c.2089G>T (p.Gly697Cys) c.*572G>T (n.*572G>T) c.*2096G>T (n.*2096G>T) c.1846G>T (p.Gly616Cys) c.1402-10387G>T (n.1402-10387G>T) c.2182G>T (p.Gly728Cys) c.2362G>T (p.Gly788Cys) c.2029G>T (p.Gly677Cys) | |
| 7 | g.117592440G>A | CA368980770 | CFTR | c.2273G>A (p.Gly758Asp) c.*1987G>A (n.*1987G>A) c.2090G>A (p.Gly697Asp) c.*573G>A (n.*573G>A) c.*2097G>A (n.*2097G>A) c.1847G>A (p.Gly616Asp) c.1402-10386G>A (n.1402-10386G>A) c.2183G>A (p.Gly728Asp) c.2363G>A (p.Gly788Asp) c.2030G>A (p.Gly677Asp) | |
| 7 | g.117592440G>C | CA368980773 | CFTR | c.2273G>C (p.Gly758Ala) c.*1987G>C (n.*1987G>C) c.2090G>C (p.Gly697Ala) c.*573G>C (n.*573G>C) c.*2097G>C (n.*2097G>C) c.1847G>C (p.Gly616Ala) c.1402-10386G>C (n.1402-10386G>C) c.2183G>C (p.Gly728Ala) c.2363G>C (p.Gly788Ala) c.2030G>C (p.Gly677Ala) | |
| 7 | g.117592440G>T | CA368980768 | CFTR | c.2273G>T (p.Gly758Val) c.*1987G>T (n.*1987G>T) c.2090G>T (p.Gly697Val) c.*573G>T (n.*573G>T) c.*2097G>T (n.*2097G>T) c.1847G>T (p.Gly616Val) c.1402-10386G>T (n.1402-10386G>T) c.2183G>T (p.Gly728Val) c.2363G>T (p.Gly788Val) c.2030G>T (p.Gly677Val) | |
| 7 | g.117592440_117592442delinsGCC | CA1737395164 | CFTR | c.2273_2275delinsGCC (p.Gly758=) c.*1987_*1989delinsGCC (n.*1987_*1989delinsGCC) c.2090_2092delinsGCC (p.Gly697=) c.*573_*575delinsGCC (n.*573_*575delinsGCC) c.*2097_*2099delinsGCC (n.*2097_*2099delinsGCC) c.1847_1849delinsGCC (p.Gly616=) c.1402-10386_1402-10384delinsGCC (n.1402-10386_1402-10384delinsGCC) c.2183_2185delinsGCC (p.Gly728=) c.2363_2365delinsGCC (p.Gly788=) c.2030_2032delinsGCC (p.Gly677=) | |
| 7 | g.117592440_117592456delinsGCCCCACGCTTCAGGCA | CA1737395165 | CFTR | c.2273_2289delinsGCCCCACGCTTCAGGCA (p.Gly758=) c.*1987_*2003delinsGCCCCACGCTTCAGGCA (n.*1987_*2003delinsGCCCCACGCTTCAGGCA) c.2090_2106delinsGCCCCACGCTTCAGGCA (p.Gly697=) c.*573_*589delinsGCCCCACGCTTCAGGCA (n.*573_*589delinsGCCCCACGCTTCAGGCA) c.*2097_*2113delinsGCCCCACGCTTCAGGCA (n.*2097_*2113delinsGCCCCACGCTTCAGGCA) c.1847_1863delinsGCCCCACGCTTCAGGCA (p.Gly616=) c.1402-10386_1402-10370delinsGCCCCACGCTTCAGGCA (n.1402-10386_1402-10370delinsGCCCCACGCTTCAGGCA) c.2183_2199delinsGCCCCACGCTTCAGGCA (p.Gly728=) c.2363_2379delinsGCCCCACGCTTCAGGCA (p.Gly788=) c.2030_2046delinsGCCCCACGCTTCAGGCA (p.Gly677=) | |
| 7 | g.117592441C>A | CA457449610 | CFTR | c.2274C>A (p.Gly758=) c.*1988C>A (n.*1988C>A) c.2091C>A (p.Gly697=) c.*574C>A (n.*574C>A) c.*2098C>A (n.*2098C>A) c.1848C>A (p.Gly616=) c.1402-10385C>A (n.1402-10385C>A) c.2184C>A (p.Gly728=) c.2364C>A (p.Gly788=) c.2031C>A (p.Gly677=) | gnomAD v4 |
| 7 | g.117592441C>G | CA457449612 | CFTR | c.2274C>G (p.Gly758=) c.*1988C>G (n.*1988C>G) c.2091C>G (p.Gly697=) c.*574C>G (n.*574C>G) c.*2098C>G (n.*2098C>G) c.1848C>G (p.Gly616=) c.1402-10385C>G (n.1402-10385C>G) c.2184C>G (p.Gly728=) c.2364C>G (p.Gly788=) c.2031C>G (p.Gly677=) | |
| 7 | g.117592441C>T | CA457449613 | CFTR | c.2274C>T (p.Gly758=) c.*1988C>T (n.*1988C>T) c.2091C>T (p.Gly697=) c.*574C>T (n.*574C>T) c.*2098C>T (n.*2098C>T) c.1848C>T (p.Gly616=) c.1402-10385C>T (n.1402-10385C>T) c.2184C>T (p.Gly728=) c.2364C>T (p.Gly788=) c.2031C>T (p.Gly677=) | |
| 7 | g.117592443_117592444del | CA326785 | CFTR | c.2276_2277del (p.Pro759HisfsTer19) c.*1990_*1991del (n.*1990_*1991del) c.2093_2094del (p.Pro698HisfsTer19) c.*576_*577del (n.*576_*577del) c.*2100_*2101del (n.*2100_*2101del) c.1850_1851del (p.Pro617HisfsTer19) c.1402-10383_1402-10382del (n.1402-10383_1402-10382del) c.2186_2187del (p.Pro729HisfsTer19) c.2366_2367del (p.Pro789HisfsTer19) c.2033_2034del (p.Pro678HisfsTer19) | dbSNP |
| 7 | g.117592442_117592457del | CA577680772 | CFTR | c.2275_2290del (p.Pro759GlufsTer7) c.*1989_*2004del (n.*1989_*2004del) c.2092_2107del (p.Pro698GlufsTer7) c.*575_*590del (n.*575_*590del) c.*2099_*2114del (n.*2099_*2114del) c.1849_1864del (p.Pro617GlufsTer7) c.1402-10384_1402-10369del (n.1402-10384_1402-10369del) c.2185_2200del (p.Pro729GlufsTer7) c.2365_2380del (p.Pro789GlufsTer7) c.2032_2047del (p.Pro678GlufsTer7) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592442C>A | CA368980778 | CFTR | c.2275C>A (p.Pro759Thr) c.*1989C>A (n.*1989C>A) c.2092C>A (p.Pro698Thr) c.*575C>A (n.*575C>A) c.*2099C>A (n.*2099C>A) c.1849C>A (p.Pro617Thr) c.1402-10384C>A (n.1402-10384C>A) c.2185C>A (p.Pro729Thr) c.2365C>A (p.Pro789Thr) c.2032C>A (p.Pro678Thr) | ClinVar dbSNP |