WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 11 | g.22272946A>T | CA379923973 | ANO5 | n.209A>T c.1742A>T (p.Gln581Leu) c.2150A>T (p.Gln717Leu) n.3186A>T c.2147A>T (p.Gln716Leu) c.2192A>T (p.Gln731Leu) n.2527A>T c.2189A>T (p.Gln730Leu) c.2114A>T (p.Gln705Leu) c.2111A>T (p.Gln704Leu) c.2099A>T (p.Gln700Leu) | COSMIC |
| 11 | g.22272947A= | CA1957403100 | ANO5 | n.210A= c.1743A= (p.Gln581=) c.2151A= (p.Gln717=) n.3187A= c.2148A= (p.Gln716=) c.2193A= (p.Gln731=) n.2528A= c.2190A= (p.Gln730=) c.2115A= (p.Gln705=) c.2112A= (p.Gln704=) c.2100A= (p.Gln700=) | |
| 11 | g.22272947A>C | CA10605995 | ANO5 | n.210A>C c.1743A>C (p.Gln581His) c.2151A>C (p.Gln717His) n.3187A>C c.2148A>C (p.Gln716His) c.2193A>C (p.Gln731His) n.2528A>C c.2190A>C (p.Gln730His) c.2115A>C (p.Gln705His) c.2112A>C (p.Gln704His) c.2100A>C (p.Gln700His) | ClinVar dbSNP |
| 11 | g.22272947A>G | CA5923473 | ANO5 | n.210A>G c.1743A>G (p.Gln581=) c.2151A>G (p.Gln717=) n.3187A>G c.2148A>G (p.Gln716=) c.2193A>G (p.Gln731=) n.2528A>G c.2190A>G (p.Gln730=) c.2115A>G (p.Gln705=) c.2112A>G (p.Gln704=) c.2100A>G (p.Gln700=) | dbSNP ExAC |
| 11 | g.22272947A>T | CA379923974 | ANO5 | n.210A>T c.1743A>T (p.Gln581His) c.2151A>T (p.Gln717His) n.3187A>T c.2148A>T (p.Gln716His) c.2193A>T (p.Gln731His) n.2528A>T c.2190A>T (p.Gln730His) c.2115A>T (p.Gln705His) c.2112A>T (p.Gln704His) c.2100A>T (p.Gln700His) | |
| 11 | g.22272948del | CA2612837287 | ANO5 | n.211del c.1744del (p.Asp582ThrfsTer28) c.2152del (p.Asp718ThrfsTer28) n.3188del c.2149del (p.Asp717ThrfsTer28) c.2194del (p.Asp732ThrfsTer28) n.2529del c.2191del (p.Asp731ThrfsTer28) c.2116del (p.Asp706ThrfsTer28) c.2113del (p.Asp705ThrfsTer28) c.2101del (p.Asp701ThrfsTer28) | gnomAD v4 |
| 11 | g.22272948G>A | CA379923975 | ANO5 | n.211G>A c.1744G>A (p.Asp582Asn) c.2152G>A (p.Asp718Asn) n.3188G>A c.2149G>A (p.Asp717Asn) c.2194G>A (p.Asp732Asn) n.2529G>A c.2191G>A (p.Asp731Asn) c.2116G>A (p.Asp706Asn) c.2113G>A (p.Asp705Asn) c.2101G>A (p.Asp701Asn) | |
| 11 | g.22272948G>C | CA379923976 | ANO5 | n.211G>C c.1744G>C (p.Asp582His) c.2152G>C (p.Asp718His) n.3188G>C c.2149G>C (p.Asp717His) c.2194G>C (p.Asp732His) n.2529G>C c.2191G>C (p.Asp731His) c.2116G>C (p.Asp706His) c.2113G>C (p.Asp705His) c.2101G>C (p.Asp701His) | |
| 11 | g.22272948G>T | CA379923977 | ANO5 | n.211G>T c.1744G>T (p.Asp582Tyr) c.2152G>T (p.Asp718Tyr) n.3188G>T c.2149G>T (p.Asp717Tyr) c.2194G>T (p.Asp732Tyr) n.2529G>T c.2191G>T (p.Asp731Tyr) c.2116G>T (p.Asp706Tyr) c.2113G>T (p.Asp705Tyr) c.2101G>T (p.Asp701Tyr) | |
| 11 | g.22272949A>C | CA379923978 | ANO5 | n.212A>C c.1745A>C (p.Asp582Ala) c.2153A>C (p.Asp718Ala) n.3189A>C c.2150A>C (p.Asp717Ala) c.2195A>C (p.Asp732Ala) n.2530A>C c.2192A>C (p.Asp731Ala) c.2117A>C (p.Asp706Ala) c.2114A>C (p.Asp705Ala) c.2102A>C (p.Asp701Ala) | gnomAD v4 |
| 11 | g.22272949A>G | CA379923979 | ANO5 | n.212A>G c.1745A>G (p.Asp582Gly) c.2153A>G (p.Asp718Gly) n.3189A>G c.2150A>G (p.Asp717Gly) c.2195A>G (p.Asp732Gly) n.2530A>G c.2192A>G (p.Asp731Gly) c.2117A>G (p.Asp706Gly) c.2114A>G (p.Asp705Gly) c.2102A>G (p.Asp701Gly) | |
| 11 | g.22272949A>T | CA379923980 | ANO5 | n.212A>T c.1745A>T (p.Asp582Val) c.2153A>T (p.Asp718Val) n.3189A>T c.2150A>T (p.Asp717Val) c.2195A>T (p.Asp732Val) n.2530A>T c.2192A>T (p.Asp731Val) c.2117A>T (p.Asp706Val) c.2114A>T (p.Asp705Val) c.2102A>T (p.Asp701Val) | |
| 11 | g.22272950C>A | CA379923982 | ANO5 | n.213C>A c.1746C>A (p.Asp582Glu) c.2154C>A (p.Asp718Glu) n.3190C>A c.2151C>A (p.Asp717Glu) c.2196C>A (p.Asp732Glu) n.2531C>A c.2193C>A (p.Asp731Glu) c.2118C>A (p.Asp706Glu) c.2115C>A (p.Asp705Glu) c.2103C>A (p.Asp701Glu) | |
| 11 | g.22272950C>G | CA379923981 | ANO5 | n.213C>G c.1746C>G (p.Asp582Glu) c.2154C>G (p.Asp718Glu) n.3190C>G c.2151C>G (p.Asp717Glu) c.2196C>G (p.Asp732Glu) n.2531C>G c.2193C>G (p.Asp731Glu) c.2118C>G (p.Asp706Glu) c.2115C>G (p.Asp705Glu) c.2103C>G (p.Asp701Glu) | |
| 11 | g.22272950C>T | CA473407630 | ANO5 | n.213C>T c.1746C>T (p.Asp582=) c.2154C>T (p.Asp718=) n.3190C>T c.2151C>T (p.Asp717=) c.2196C>T (p.Asp732=) n.2531C>T c.2193C>T (p.Asp731=) c.2118C>T (p.Asp706=) c.2115C>T (p.Asp705=) c.2103C>T (p.Asp701=) | gnomAD v4 |
| 11 | g.22272951A>C | CA379923983 | ANO5 | n.214A>C c.1747A>C (p.Ile583Leu) c.2155A>C (p.Ile719Leu) n.3191A>C c.2152A>C (p.Ile718Leu) c.2197A>C (p.Ile733Leu) n.2532A>C c.2194A>C (p.Ile732Leu) c.2119A>C (p.Ile707Leu) c.2116A>C (p.Ile706Leu) c.2104A>C (p.Ile702Leu) | |
| 11 | g.22272951A>G | CA379923984 | ANO5 | n.214A>G c.1747A>G (p.Ile583Val) c.2155A>G (p.Ile719Val) n.3191A>G c.2152A>G (p.Ile718Val) c.2197A>G (p.Ile733Val) n.2532A>G c.2194A>G (p.Ile732Val) c.2119A>G (p.Ile707Val) c.2116A>G (p.Ile706Val) c.2104A>G (p.Ile702Val) | |
| 11 | g.22272951A>T | CA379923985 | ANO5 | n.214A>T c.1747A>T (p.Ile583Phe) c.2155A>T (p.Ile719Phe) n.3191A>T c.2152A>T (p.Ile718Phe) c.2197A>T (p.Ile733Phe) n.2532A>T c.2194A>T (p.Ile732Phe) c.2119A>T (p.Ile707Phe) c.2116A>T (p.Ile706Phe) c.2104A>T (p.Ile702Phe) | |
| 11 | g.22272952T>A | CA379923986 | ANO5 | n.215T>A c.1748T>A (p.Ile583Asn) c.2156T>A (p.Ile719Asn) n.3192T>A c.2153T>A (p.Ile718Asn) c.2198T>A (p.Ile733Asn) n.2533T>A c.2195T>A (p.Ile732Asn) c.2120T>A (p.Ile707Asn) c.2117T>A (p.Ile706Asn) c.2105T>A (p.Ile702Asn) | |
| 11 | g.22272952T>C | CA379923987 | ANO5 | n.215T>C c.1748T>C (p.Ile583Thr) c.2156T>C (p.Ile719Thr) n.3192T>C c.2153T>C (p.Ile718Thr) c.2198T>C (p.Ile733Thr) n.2533T>C c.2195T>C (p.Ile732Thr) c.2120T>C (p.Ile707Thr) c.2117T>C (p.Ile706Thr) c.2105T>C (p.Ile702Thr) | |
| 11 | g.22272952T>G | CA379923988 | ANO5 | n.215T>G c.1748T>G (p.Ile583Ser) c.2156T>G (p.Ile719Ser) n.3192T>G c.2153T>G (p.Ile718Ser) c.2198T>G (p.Ile733Ser) n.2533T>G c.2195T>G (p.Ile732Ser) c.2120T>G (p.Ile707Ser) c.2117T>G (p.Ile706Ser) c.2105T>G (p.Ile702Ser) | |
| 11 | g.22272954_22272957del | CA2612837288 | ANO5 | n.217_220del c.1750_1753del (p.Leu584MetfsTer25) c.2158_2161del (p.Leu720MetfsTer25) n.3194_3197del c.2155_2158del (p.Leu719MetfsTer25) c.2200_2203del (p.Leu734MetfsTer25) n.2535_2538del c.2197_2200del (p.Leu733MetfsTer25) c.2122_2125del (p.Leu708MetfsTer25) c.2119_2122del (p.Leu707MetfsTer25) c.2107_2110del (p.Leu703MetfsTer25) | gnomAD v4 |
| 11 | g.22272953T>A | CA473407634 | ANO5 | n.216T>A c.1749T>A (p.Ile583=) c.2157T>A (p.Ile719=) n.3193T>A c.2154T>A (p.Ile718=) c.2199T>A (p.Ile733=) n.2534T>A c.2196T>A (p.Ile732=) c.2121T>A (p.Ile707=) c.2118T>A (p.Ile706=) c.2106T>A (p.Ile702=) | |
| 11 | g.22272953T>C | CA473407633 | ANO5 | n.216T>C c.1749T>C (p.Ile583=) c.2157T>C (p.Ile719=) n.3193T>C c.2154T>C (p.Ile718=) c.2199T>C (p.Ile733=) n.2534T>C c.2196T>C (p.Ile732=) c.2121T>C (p.Ile707=) c.2118T>C (p.Ile706=) c.2106T>C (p.Ile702=) | |
| 11 | g.22272953T>G | CA379923989 | ANO5 | n.216T>G c.1749T>G (p.Ile583Met) c.2157T>G (p.Ile719Met) n.3193T>G c.2154T>G (p.Ile718Met) c.2199T>G (p.Ile733Met) n.2534T>G c.2196T>G (p.Ile732Met) c.2121T>G (p.Ile707Met) c.2118T>G (p.Ile706Met) c.2106T>G (p.Ile702Met) | |
| 11 | g.22272954C>A | CA10604651 | ANO5 | n.217C>A c.1750C>A (p.Leu584Ile) c.2158C>A (p.Leu720Ile) n.3194C>A c.2155C>A (p.Leu719Ile) c.2200C>A (p.Leu734Ile) n.2535C>A c.2197C>A (p.Leu733Ile) c.2122C>A (p.Leu708Ile) c.2119C>A (p.Leu707Ile) c.2107C>A (p.Leu703Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.22272954C= | CA1957403107 | ANO5 | n.217C= c.1750C= (p.Leu584=) c.2158C= (p.Leu720=) n.3194C= c.2155C= (p.Leu719=) c.2200C= (p.Leu734=) n.2535C= c.2197C= (p.Leu733=) c.2122C= (p.Leu708=) c.2119C= (p.Leu707=) c.2107C= (p.Leu703=) | |
| 11 | g.22272954C>G | CA379923990 | ANO5 | n.217C>G c.1750C>G (p.Leu584Val) c.2158C>G (p.Leu720Val) n.3194C>G c.2155C>G (p.Leu719Val) c.2200C>G (p.Leu734Val) n.2535C>G c.2197C>G (p.Leu733Val) c.2122C>G (p.Leu708Val) c.2119C>G (p.Leu707Val) c.2107C>G (p.Leu703Val) | gnomAD v4 |
| 11 | g.22272954C>T | CA379923991 | ANO5 | n.217C>T c.1750C>T (p.Leu584Phe) c.2158C>T (p.Leu720Phe) n.3194C>T c.2155C>T (p.Leu719Phe) c.2200C>T (p.Leu734Phe) n.2535C>T c.2197C>T (p.Leu733Phe) c.2122C>T (p.Leu708Phe) c.2119C>T (p.Leu707Phe) c.2107C>T (p.Leu703Phe) | |
| 11 | g.22272955T>A | CA379923992 | ANO5 | n.218T>A c.1751T>A (p.Leu584His) c.2159T>A (p.Leu720His) n.3195T>A c.2156T>A (p.Leu719His) c.2201T>A (p.Leu734His) n.2536T>A c.2198T>A (p.Leu733His) c.2123T>A (p.Leu708His) c.2120T>A (p.Leu707His) c.2108T>A (p.Leu703His) | |
| 11 | g.22272955T>C | CA379923993 | ANO5 | n.218T>C c.1751T>C (p.Leu584Pro) c.2159T>C (p.Leu720Pro) n.3195T>C c.2156T>C (p.Leu719Pro) c.2201T>C (p.Leu734Pro) n.2536T>C c.2198T>C (p.Leu733Pro) c.2123T>C (p.Leu708Pro) c.2120T>C (p.Leu707Pro) c.2108T>C (p.Leu703Pro) | ClinVar dbSNP gnomAD v4 |
| 11 | g.22272955T>G | CA379923994 | ANO5 | n.218T>G c.1751T>G (p.Leu584Arg) c.2159T>G (p.Leu720Arg) n.3195T>G c.2156T>G (p.Leu719Arg) c.2201T>G (p.Leu734Arg) n.2536T>G c.2198T>G (p.Leu733Arg) c.2123T>G (p.Leu708Arg) c.2120T>G (p.Leu707Arg) c.2108T>G (p.Leu703Arg) | COSMIC |