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 |
|---|---|---|---|---|---|
| 11 | g.22272933A= | CA1957403085 | ANO5 | n.196A= c.1729A= (p.Ile577=) c.2137A= (p.Ile713=) n.3173A= c.2134A= (p.Ile712=) c.2179A= (p.Ile727=) n.2514A= c.2176A= (p.Ile726=) c.2101A= (p.Ile701=) c.2098A= (p.Ile700=) c.2086A= (p.Ile696=) | |
| 11 | g.22272933A>C | CA379923944 | ANO5 | n.196A>C c.1729A>C (p.Ile577Leu) c.2137A>C (p.Ile713Leu) n.3173A>C c.2134A>C (p.Ile712Leu) c.2179A>C (p.Ile727Leu) n.2514A>C c.2176A>C (p.Ile726Leu) c.2101A>C (p.Ile701Leu) c.2098A>C (p.Ile700Leu) c.2086A>C (p.Ile696Leu) | |
| 11 | g.22272933A>G | CA218775888 | ANO5 | n.196A>G c.1729A>G (p.Ile577Val) c.2137A>G (p.Ile713Val) n.3173A>G c.2134A>G (p.Ile712Val) c.2179A>G (p.Ile727Val) n.2514A>G c.2176A>G (p.Ile726Val) c.2101A>G (p.Ile701Val) c.2098A>G (p.Ile700Val) c.2086A>G (p.Ile696Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.22272933A>T | CA379923945 | ANO5 | n.196A>T c.1729A>T (p.Ile577Leu) c.2137A>T (p.Ile713Leu) n.3173A>T c.2134A>T (p.Ile712Leu) c.2179A>T (p.Ile727Leu) n.2514A>T c.2176A>T (p.Ile726Leu) c.2101A>T (p.Ile701Leu) c.2098A>T (p.Ile700Leu) c.2086A>T (p.Ile696Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22272934T>A | CA379923946 | ANO5 | n.197T>A c.1730T>A (p.Ile577Lys) c.2138T>A (p.Ile713Lys) n.3174T>A c.2135T>A (p.Ile712Lys) c.2180T>A (p.Ile727Lys) n.2515T>A c.2177T>A (p.Ile726Lys) c.2102T>A (p.Ile701Lys) c.2099T>A (p.Ile700Lys) c.2087T>A (p.Ile696Lys) | |
| 11 | g.22272934T>C | CA5923468 | ANO5 | n.197T>C c.1730T>C (p.Ile577Thr) c.2138T>C (p.Ile713Thr) n.3174T>C c.2135T>C (p.Ile712Thr) c.2180T>C (p.Ile727Thr) n.2515T>C c.2177T>C (p.Ile726Thr) c.2102T>C (p.Ile701Thr) c.2099T>C (p.Ile700Thr) c.2087T>C (p.Ile696Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.22272934T>G | CA379923947 | ANO5 | n.197T>G c.1730T>G (p.Ile577Arg) c.2138T>G (p.Ile713Arg) n.3174T>G c.2135T>G (p.Ile712Arg) c.2180T>G (p.Ile727Arg) n.2515T>G c.2177T>G (p.Ile726Arg) c.2102T>G (p.Ile701Arg) c.2099T>G (p.Ile700Arg) c.2087T>G (p.Ile696Arg) | |
| 11 | g.22272934T= | CA1957403086 | ANO5 | n.197T= c.1730T= (p.Ile577=) c.2138T= (p.Ile713=) n.3174T= c.2135T= (p.Ile712=) c.2180T= (p.Ile727=) n.2515T= c.2177T= (p.Ile726=) c.2102T= (p.Ile701=) c.2099T= (p.Ile700=) c.2087T= (p.Ile696=) | |
| 11 | g.22272935A>C | CA473407604 | ANO5 | n.198A>C c.1731A>C (p.Ile577=) c.2139A>C (p.Ile713=) n.3175A>C c.2136A>C (p.Ile712=) c.2181A>C (p.Ile727=) n.2516A>C c.2178A>C (p.Ile726=) c.2103A>C (p.Ile701=) c.2100A>C (p.Ile700=) c.2088A>C (p.Ile696=) | |
| 11 | g.22272935A>G | CA379923948 | ANO5 | n.198A>G c.1731A>G (p.Ile577Met) c.2139A>G (p.Ile713Met) n.3175A>G c.2136A>G (p.Ile712Met) c.2181A>G (p.Ile727Met) n.2516A>G c.2178A>G (p.Ile726Met) c.2103A>G (p.Ile701Met) c.2100A>G (p.Ile700Met) c.2088A>G (p.Ile696Met) | ClinVar dbSNP gnomAD v4 |
| 11 | g.22272935A>T | CA473407603 | ANO5 | n.198A>T c.1731A>T (p.Ile577=) c.2139A>T (p.Ile713=) n.3175A>T c.2136A>T (p.Ile712=) c.2181A>T (p.Ile727=) n.2516A>T c.2178A>T (p.Ile726=) c.2103A>T (p.Ile701=) c.2100A>T (p.Ile700=) c.2088A>T (p.Ile696=) | |
| 11 | g.22272936G>A | CA379923949 | ANO5 | n.199G>A c.1732G>A (p.Gly578Ser) c.2140G>A (p.Gly714Ser) n.3176G>A c.2137G>A (p.Gly713Ser) c.2182G>A (p.Gly728Ser) n.2517G>A c.2179G>A (p.Gly727Ser) c.2104G>A (p.Gly702Ser) c.2101G>A (p.Gly701Ser) c.2089G>A (p.Gly697Ser) | gnomAD v4 |
| 11 | g.22272936G>C | CA379923950 | ANO5 | n.199G>C c.1732G>C (p.Gly578Arg) c.2140G>C (p.Gly714Arg) n.3176G>C c.2137G>C (p.Gly713Arg) c.2182G>C (p.Gly728Arg) n.2517G>C c.2179G>C (p.Gly727Arg) c.2104G>C (p.Gly702Arg) c.2101G>C (p.Gly701Arg) c.2089G>C (p.Gly697Arg) | |
| 11 | g.22272936G>T | CA379923951 | ANO5 | n.199G>T c.1732G>T (p.Gly578Cys) c.2140G>T (p.Gly714Cys) n.3176G>T c.2137G>T (p.Gly713Cys) c.2182G>T (p.Gly728Cys) n.2517G>T c.2179G>T (p.Gly727Cys) c.2104G>T (p.Gly702Cys) c.2101G>T (p.Gly701Cys) c.2089G>T (p.Gly697Cys) | |
| 11 | g.22272937G>A | CA5923469 | ANO5 | n.200G>A c.1733G>A (p.Gly578Asp) c.2141G>A (p.Gly714Asp) n.3177G>A c.2138G>A (p.Gly713Asp) c.2183G>A (p.Gly728Asp) n.2518G>A c.2180G>A (p.Gly727Asp) c.2105G>A (p.Gly702Asp) c.2102G>A (p.Gly701Asp) c.2090G>A (p.Gly697Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.22272937G>C | CA379923952 | ANO5 | n.200G>C c.1733G>C (p.Gly578Ala) c.2141G>C (p.Gly714Ala) n.3177G>C c.2138G>C (p.Gly713Ala) c.2183G>C (p.Gly728Ala) n.2518G>C c.2180G>C (p.Gly727Ala) c.2105G>C (p.Gly702Ala) c.2102G>C (p.Gly701Ala) c.2090G>C (p.Gly697Ala) | |
| 11 | g.22272937G= | CA1957403087 | ANO5 | n.200G= c.1733G= (p.Gly578=) c.2141G= (p.Gly714=) n.3177G= c.2138G= (p.Gly713=) c.2183G= (p.Gly728=) n.2518G= c.2180G= (p.Gly727=) c.2105G= (p.Gly702=) c.2102G= (p.Gly701=) c.2090G= (p.Gly697=) | |
| 11 | g.22272937G>T | CA379923953 | ANO5 | n.200G>T c.1733G>T (p.Gly578Val) c.2141G>T (p.Gly714Val) n.3177G>T c.2138G>T (p.Gly713Val) c.2183G>T (p.Gly728Val) n.2518G>T c.2180G>T (p.Gly727Val) c.2105G>T (p.Gly702Val) c.2102G>T (p.Gly701Val) c.2090G>T (p.Gly697Val) | |
| 11 | g.22272938T>A | CA473407606 | ANO5 | n.201T>A c.1734T>A (p.Gly578=) c.2142T>A (p.Gly714=) n.3178T>A c.2139T>A (p.Gly713=) c.2184T>A (p.Gly728=) n.2519T>A c.2181T>A (p.Gly727=) c.2106T>A (p.Gly702=) c.2103T>A (p.Gly701=) c.2091T>A (p.Gly697=) | |
| 11 | g.22272938T>C | CA473407607 | ANO5 | n.201T>C c.1734T>C (p.Gly578=) c.2142T>C (p.Gly714=) n.3178T>C c.2139T>C (p.Gly713=) c.2184T>C (p.Gly728=) n.2519T>C c.2181T>C (p.Gly727=) c.2106T>C (p.Gly702=) c.2103T>C (p.Gly701=) c.2091T>C (p.Gly697=) | |
| 11 | g.22272938T>G | CA473407609 | ANO5 | n.201T>G c.1734T>G (p.Gly578=) c.2142T>G (p.Gly714=) n.3178T>G c.2139T>G (p.Gly713=) c.2184T>G (p.Gly728=) n.2519T>G c.2181T>G (p.Gly727=) c.2106T>G (p.Gly702=) c.2103T>G (p.Gly701=) c.2091T>G (p.Gly697=) | |
| 11 | g.22272938dup | CA5923470 | ANO5 | n.201dup c.1734dup (p.Val579CysfsTer17) c.2142dup (p.Val715CysfsTer17) n.3178dup c.2139dup (p.Val714CysfsTer17) c.2184dup (p.Val729CysfsTer17) n.2519dup c.2181dup (p.Val728CysfsTer17) c.2106dup (p.Val703CysfsTer17) c.2103dup (p.Val702CysfsTer17) c.2091dup (p.Val698CysfsTer17) | dbSNP ExAC gnomAD v4 |
| 11 | g.22272939G>A | CA5923471 | ANO5 | n.202G>A c.1735G>A (p.Val579Ile) c.2143G>A (p.Val715Ile) n.3179G>A c.2140G>A (p.Val714Ile) c.2185G>A (p.Val729Ile) n.2520G>A c.2182G>A (p.Val728Ile) c.2107G>A (p.Val703Ile) c.2104G>A (p.Val702Ile) c.2092G>A (p.Val698Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22272939G>C | CA379923955 | ANO5 | n.202G>C c.1735G>C (p.Val579Leu) c.2143G>C (p.Val715Leu) n.3179G>C c.2140G>C (p.Val714Leu) c.2185G>C (p.Val729Leu) n.2520G>C c.2182G>C (p.Val728Leu) c.2107G>C (p.Val703Leu) c.2104G>C (p.Val702Leu) c.2092G>C (p.Val698Leu) | |
| 11 | g.22272939G= | CA1957403091 | ANO5 | n.202G= c.1735G= (p.Val579=) c.2143G= (p.Val715=) n.3179G= c.2140G= (p.Val714=) c.2185G= (p.Val729=) n.2520G= c.2182G= (p.Val728=) c.2107G= (p.Val703=) c.2104G= (p.Val702=) c.2092G= (p.Val698=) | |
| 11 | g.22272939G>T | CA379923954 | ANO5 | n.202G>T c.1735G>T (p.Val579Phe) c.2143G>T (p.Val715Phe) n.3179G>T c.2140G>T (p.Val714Phe) c.2185G>T (p.Val729Phe) n.2520G>T c.2182G>T (p.Val728Phe) c.2107G>T (p.Val703Phe) c.2104G>T (p.Val702Phe) c.2092G>T (p.Val698Phe) | |
| 11 | g.22272940T>A | CA379923958 | ANO5 | n.203T>A c.1736T>A (p.Val579Asp) c.2144T>A (p.Val715Asp) n.3180T>A c.2141T>A (p.Val714Asp) c.2186T>A (p.Val729Asp) n.2521T>A c.2183T>A (p.Val728Asp) c.2108T>A (p.Val703Asp) c.2105T>A (p.Val702Asp) c.2093T>A (p.Val698Asp) | |
| 11 | g.22272940T>C | CA379923956 | ANO5 | n.203T>C c.1736T>C (p.Val579Ala) c.2144T>C (p.Val715Ala) n.3180T>C c.2141T>C (p.Val714Ala) c.2186T>C (p.Val729Ala) n.2521T>C c.2183T>C (p.Val728Ala) c.2108T>C (p.Val703Ala) c.2105T>C (p.Val702Ala) c.2093T>C (p.Val698Ala) | |
| 11 | g.22272940T>G | CA379923957 | ANO5 | n.203T>G c.1736T>G (p.Val579Gly) c.2144T>G (p.Val715Gly) n.3180T>G c.2141T>G (p.Val714Gly) c.2186T>G (p.Val729Gly) n.2521T>G c.2183T>G (p.Val728Gly) c.2108T>G (p.Val703Gly) c.2105T>G (p.Val702Gly) c.2093T>G (p.Val698Gly) | |
| 11 | g.22272941T>A | CA473407614 | ANO5 | n.204T>A c.1737T>A (p.Val579=) c.2145T>A (p.Val715=) n.3181T>A c.2142T>A (p.Val714=) c.2187T>A (p.Val729=) n.2522T>A c.2184T>A (p.Val728=) c.2109T>A (p.Val703=) c.2106T>A (p.Val702=) c.2094T>A (p.Val698=) | |
| 11 | g.22272941T>C | CA473407615 | ANO5 | n.204T>C c.1737T>C (p.Val579=) c.2145T>C (p.Val715=) n.3181T>C c.2142T>C (p.Val714=) c.2187T>C (p.Val729=) n.2522T>C c.2184T>C (p.Val728=) c.2109T>C (p.Val703=) c.2106T>C (p.Val702=) c.2094T>C (p.Val698=) | |
| 11 | g.22272941T>G | CA473407616 | ANO5 | n.204T>G c.1737T>G (p.Val579=) c.2145T>G (p.Val715=) n.3181T>G c.2142T>G (p.Val714=) c.2187T>G (p.Val729=) n.2522T>G c.2184T>G (p.Val728=) c.2109T>G (p.Val703=) c.2106T>G (p.Val702=) c.2094T>G (p.Val698=) | |
| 11 | g.22272942T>A | CA379923959 | ANO5 | n.205T>A c.1738T>A (p.Trp580Arg) c.2146T>A (p.Trp716Arg) n.3182T>A c.2143T>A (p.Trp715Arg) c.2188T>A (p.Trp730Arg) n.2523T>A c.2185T>A (p.Trp729Arg) c.2110T>A (p.Trp704Arg) c.2107T>A (p.Trp703Arg) c.2095T>A (p.Trp699Arg) | |
| 11 | g.22272942T>C | CA379923960 | ANO5 | n.205T>C c.1738T>C (p.Trp580Arg) c.2146T>C (p.Trp716Arg) n.3182T>C c.2143T>C (p.Trp715Arg) c.2188T>C (p.Trp730Arg) n.2523T>C c.2185T>C (p.Trp729Arg) c.2110T>C (p.Trp704Arg) c.2107T>C (p.Trp703Arg) c.2095T>C (p.Trp699Arg) | |
| 11 | g.22272942T>G | CA379923961 | ANO5 | n.205T>G c.1738T>G (p.Trp580Gly) c.2146T>G (p.Trp716Gly) n.3182T>G c.2143T>G (p.Trp715Gly) c.2188T>G (p.Trp730Gly) n.2523T>G c.2185T>G (p.Trp729Gly) c.2110T>G (p.Trp704Gly) c.2107T>G (p.Trp703Gly) c.2095T>G (p.Trp699Gly) | |
| 11 | g.22272942_22272943delinsTG | CA1957403092 | ANO5 | n.205_206delinsTG c.1738_1739delinsTG (p.Trp580=) c.2146_2147delinsTG (p.Trp716=) n.3182_3183delinsTG c.2143_2144delinsTG (p.Trp715=) c.2188_2189delinsTG (p.Trp730=) n.2523_2524delinsTG c.2185_2186delinsTG (p.Trp729=) c.2110_2111delinsTG (p.Trp704=) c.2107_2108delinsTG (p.Trp703=) c.2095_2096delinsTG (p.Trp699=) | |
| 11 | g.22272943G>A | CA379923962 | ANO5 | n.206G>A c.1739G>A (p.Trp580Ter) c.2147G>A (p.Trp716Ter) n.3183G>A c.2144G>A (p.Trp715Ter) c.2189G>A (p.Trp730Ter) n.2524G>A c.2186G>A (p.Trp729Ter) c.2111G>A (p.Trp704Ter) c.2108G>A (p.Trp703Ter) c.2096G>A (p.Trp699Ter) | |
| 11 | g.22272943G>C | CA379923963 | ANO5 | n.206G>C c.1739G>C (p.Trp580Ser) c.2147G>C (p.Trp716Ser) n.3183G>C c.2144G>C (p.Trp715Ser) c.2189G>C (p.Trp730Ser) n.2524G>C c.2186G>C (p.Trp729Ser) c.2111G>C (p.Trp704Ser) c.2108G>C (p.Trp703Ser) c.2096G>C (p.Trp699Ser) | |
| 11 | g.22272943G>T | CA379923964 | ANO5 | n.206G>T c.1739G>T (p.Trp580Leu) c.2147G>T (p.Trp716Leu) n.3183G>T c.2144G>T (p.Trp715Leu) c.2189G>T (p.Trp730Leu) n.2524G>T c.2186G>T (p.Trp729Leu) c.2111G>T (p.Trp704Leu) c.2108G>T (p.Trp703Leu) c.2096G>T (p.Trp699Leu) | |
| 11 | g.22272944del | CA1957403093 | ANO5 | n.207del c.1740del (p.Trp580CysfsTer30) c.2148del (p.Trp716CysfsTer30) n.3184del c.2145del (p.Trp715CysfsTer30) c.2190del (p.Trp730CysfsTer30) n.2525del c.2187del (p.Trp729CysfsTer30) c.2112del (p.Trp704CysfsTer30) c.2109del (p.Trp703CysfsTer30) c.2097del (p.Trp699CysfsTer30) | dbSNP gnomAD v4 |
| 11 | g.22272944G>A | CA379923965 | ANO5 | n.207G>A c.1740G>A (p.Trp580Ter) c.2148G>A (p.Trp716Ter) n.3184G>A c.2145G>A (p.Trp715Ter) c.2190G>A (p.Trp730Ter) n.2525G>A c.2187G>A (p.Trp729Ter) c.2112G>A (p.Trp704Ter) c.2109G>A (p.Trp703Ter) c.2097G>A (p.Trp699Ter) | |
| 11 | g.22272944G>C | CA379923966 | ANO5 | n.207G>C c.1740G>C (p.Trp580Cys) c.2148G>C (p.Trp716Cys) n.3184G>C c.2145G>C (p.Trp715Cys) c.2190G>C (p.Trp730Cys) n.2525G>C c.2187G>C (p.Trp729Cys) c.2112G>C (p.Trp704Cys) c.2109G>C (p.Trp703Cys) c.2097G>C (p.Trp699Cys) | |
| 11 | g.22272944G>T | CA379923967 | ANO5 | n.207G>T c.1740G>T (p.Trp580Cys) c.2148G>T (p.Trp716Cys) n.3184G>T c.2145G>T (p.Trp715Cys) c.2190G>T (p.Trp730Cys) n.2525G>T c.2187G>T (p.Trp729Cys) c.2112G>T (p.Trp704Cys) c.2109G>T (p.Trp703Cys) c.2097G>T (p.Trp699Cys) | |
| 11 | g.22272944_22272949delinsGCAAGA | CA1957403096 | ANO5 | n.207_212delinsGCAAGA c.1740_1745delinsGCAAGA (p.Trp580=) c.2148_2153delinsGCAAGA (p.Trp716=) n.3184_3189delinsGCAAGA c.2145_2150delinsGCAAGA (p.Trp715=) c.2190_2195delinsGCAAGA (p.Trp730=) n.2525_2530delinsGCAAGA c.2187_2192delinsGCAAGA (p.Trp729=) c.2112_2117delinsGCAAGA (p.Trp704=) c.2109_2114delinsGCAAGA (p.Trp703=) c.2097_2102delinsGCAAGA (p.Trp699=) | |
| 11 | g.22272945C>A | CA379923970 | ANO5 | n.208C>A c.1741C>A (p.Gln581Lys) c.2149C>A (p.Gln717Lys) n.3185C>A c.2146C>A (p.Gln716Lys) c.2191C>A (p.Gln731Lys) n.2526C>A c.2188C>A (p.Gln730Lys) c.2113C>A (p.Gln705Lys) c.2110C>A (p.Gln704Lys) c.2098C>A (p.Gln700Lys) | |
| 11 | g.22272945C>G | CA379923969 | ANO5 | n.208C>G c.1741C>G (p.Gln581Glu) c.2149C>G (p.Gln717Glu) n.3185C>G c.2146C>G (p.Gln716Glu) c.2191C>G (p.Gln731Glu) n.2526C>G c.2188C>G (p.Gln730Glu) c.2113C>G (p.Gln705Glu) c.2110C>G (p.Gln704Glu) c.2098C>G (p.Gln700Glu) | |
| 11 | g.22272945C>T | CA379923968 | ANO5 | n.208C>T c.1741C>T (p.Gln581Ter) c.2149C>T (p.Gln717Ter) n.3185C>T c.2146C>T (p.Gln716Ter) c.2191C>T (p.Gln731Ter) n.2526C>T c.2188C>T (p.Gln730Ter) c.2113C>T (p.Gln705Ter) c.2110C>T (p.Gln704Ter) c.2098C>T (p.Gln700Ter) | |
| 11 | g.22272947_22272951del | CA5923472 | ANO5 | n.210_214del c.1743_1747del (p.Gln581HisfsTer13) c.2151_2155del (p.Gln717HisfsTer13) n.3187_3191del c.2148_2152del (p.Gln716HisfsTer13) c.2193_2197del (p.Gln731HisfsTer13) n.2528_2532del c.2190_2194del (p.Gln730HisfsTer13) c.2115_2119del (p.Gln705HisfsTer13) c.2112_2116del (p.Gln704HisfsTer13) c.2100_2104del (p.Gln700HisfsTer13) | ClinVar dbSNP ExAC gnomAD v2 |
| 11 | g.22272946A>C | CA379923971 | ANO5 | n.209A>C c.1742A>C (p.Gln581Pro) c.2150A>C (p.Gln717Pro) n.3186A>C c.2147A>C (p.Gln716Pro) c.2192A>C (p.Gln731Pro) n.2527A>C c.2189A>C (p.Gln730Pro) c.2114A>C (p.Gln705Pro) c.2111A>C (p.Gln704Pro) c.2099A>C (p.Gln700Pro) | |
| 11 | g.22272946A>G | CA379923972 | ANO5 | n.209A>G c.1742A>G (p.Gln581Arg) c.2150A>G (p.Gln717Arg) n.3186A>G c.2147A>G (p.Gln716Arg) c.2192A>G (p.Gln731Arg) n.2527A>G c.2189A>G (p.Gln730Arg) c.2114A>G (p.Gln705Arg) c.2111A>G (p.Gln704Arg) c.2099A>G (p.Gln700Arg) |