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.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 |
| 7 | g.117592442C= | CA1737395168 | CFTR | c.2275C= (p.Pro759=) c.*1989C= (n.*1989C=) c.2092C= (p.Pro698=) c.*575C= (n.*575C=) c.*2099C= (n.*2099C=) c.1849C= (p.Pro617=) c.1402-10384C= (n.1402-10384C=) c.2185C= (p.Pro729=) c.2365C= (p.Pro789=) c.2032C= (p.Pro678=) | |
| 7 | g.117592442C>G | CA368980782 | CFTR | c.2275C>G (p.Pro759Ala) c.*1989C>G (n.*1989C>G) c.2092C>G (p.Pro698Ala) c.*575C>G (n.*575C>G) c.*2099C>G (n.*2099C>G) c.1849C>G (p.Pro617Ala) c.1402-10384C>G (n.1402-10384C>G) c.2185C>G (p.Pro729Ala) c.2365C>G (p.Pro789Ala) c.2032C>G (p.Pro678Ala) | |
| 7 | g.117592442C>T | CA368980780 | CFTR | c.2275C>T (p.Pro759Ser) c.*1989C>T (n.*1989C>T) c.2092C>T (p.Pro698Ser) c.*575C>T (n.*575C>T) c.*2099C>T (n.*2099C>T) c.1849C>T (p.Pro617Ser) c.1402-10384C>T (n.1402-10384C>T) c.2185C>T (p.Pro729Ser) c.2365C>T (p.Pro789Ser) c.2032C>T (p.Pro678Ser) | |
| 7 | g.117592443C>A | CA368980785 | CFTR | c.2276C>A (p.Pro759His) c.*1990C>A (n.*1990C>A) c.2093C>A (p.Pro698His) c.*576C>A (n.*576C>A) c.*2100C>A (n.*2100C>A) c.1850C>A (p.Pro617His) c.1402-10383C>A (n.1402-10383C>A) c.2186C>A (p.Pro729His) c.2366C>A (p.Pro789His) c.2033C>A (p.Pro678His) | |
| 7 | g.117592443C>G | CA368980788 | CFTR | c.2276C>G (p.Pro759Arg) c.*1990C>G (n.*1990C>G) c.2093C>G (p.Pro698Arg) c.*576C>G (n.*576C>G) c.*2100C>G (n.*2100C>G) c.1850C>G (p.Pro617Arg) c.1402-10383C>G (n.1402-10383C>G) c.2186C>G (p.Pro729Arg) c.2366C>G (p.Pro789Arg) c.2033C>G (p.Pro678Arg) | |
| 7 | g.117592443C>T | CA368980791 | CFTR | c.2276C>T (p.Pro759Leu) c.*1990C>T (n.*1990C>T) c.2093C>T (p.Pro698Leu) c.*576C>T (n.*576C>T) c.*2100C>T (n.*2100C>T) c.1850C>T (p.Pro617Leu) c.1402-10383C>T (n.1402-10383C>T) c.2186C>T (p.Pro729Leu) c.2366C>T (p.Pro789Leu) c.2033C>T (p.Pro678Leu) | |
| 7 | g.117592443_117592444insTGT | CA2684619361 | CFTR | c.2276_2277insTGT (p.Pro759_Thr760insVal) c.*1990_*1991insTGT (n.*1990_*1991insTGT) c.2093_2094insTGT (p.Pro698_Thr699insVal) c.*576_*577insTGT (n.*576_*577insTGT) c.*2100_*2101insTGT (n.*2100_*2101insTGT) c.1850_1851insTGT (p.Pro617_Thr618insVal) c.1402-10383_1402-10382insTGT (n.1402-10383_1402-10382insTGT) c.2186_2187insTGT (p.Pro729_Thr730insVal) c.2366_2367insTGT (p.Pro789_Thr790insVal) c.2033_2034insTGT (p.Pro678_Thr679insVal) | gnomAD v4 |
| 7 | g.117592444C>A | CA457449622 | CFTR | c.2277C>A (p.Pro759=) c.*1991C>A (n.*1991C>A) c.2094C>A (p.Pro698=) c.*577C>A (n.*577C>A) c.*2101C>A (n.*2101C>A) c.1851C>A (p.Pro617=) c.1402-10382C>A (n.1402-10382C>A) c.2187C>A (p.Pro729=) c.2367C>A (p.Pro789=) c.2034C>A (p.Pro678=) | |
| 7 | g.117592444C>G | CA457449624 | CFTR | c.2277C>G (p.Pro759=) c.*1991C>G (n.*1991C>G) c.2094C>G (p.Pro698=) c.*577C>G (n.*577C>G) c.*2101C>G (n.*2101C>G) c.1851C>G (p.Pro617=) c.1402-10382C>G (n.1402-10382C>G) c.2187C>G (p.Pro729=) c.2367C>G (p.Pro789=) c.2034C>G (p.Pro678=) | |
| 7 | g.117592444C>T | CA457449627 | CFTR | c.2277C>T (p.Pro759=) c.*1991C>T (n.*1991C>T) c.2094C>T (p.Pro698=) c.*577C>T (n.*577C>T) c.*2101C>T (n.*2101C>T) c.1851C>T (p.Pro617=) c.1402-10382C>T (n.1402-10382C>T) c.2187C>T (p.Pro729=) c.2367C>T (p.Pro789=) c.2034C>T (p.Pro678=) | |
| 7 | g.117592445A>C | CA368980799 | CFTR | c.2278A>C (p.Thr760Pro) c.*1992A>C (n.*1992A>C) c.2095A>C (p.Thr699Pro) c.*578A>C (n.*578A>C) c.*2102A>C (n.*2102A>C) c.1852A>C (p.Thr618Pro) c.1402-10381A>C (n.1402-10381A>C) c.2188A>C (p.Thr730Pro) c.2368A>C (p.Thr790Pro) c.2035A>C (p.Thr679Pro) |