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 |
|---|---|---|---|---|---|
| 3 | g.130997605G>A | CA354536910 | ATP2C1 | c.2244-1G>A (n.2244-1G>A) c.2229-1G>A (n.2229-1G>A) c.2105-1G>A c.2196-1G>A (n.2196-1G>A) c.2346-1G>A (n.2346-1G>A) c.143-1G>A (n.143-1G>A) c.797-1G>A n.2414-1G>A c.2175-1G>A (n.2175-1G>A) c.1410-1G>A (n.1410-1G>A) | |
| 3 | g.130997605G>C | CA354536912 | ATP2C1 | c.2244-1G>C (n.2244-1G>C) c.2229-1G>C (n.2229-1G>C) c.2105-1G>C c.2196-1G>C (n.2196-1G>C) c.2346-1G>C (n.2346-1G>C) c.143-1G>C (n.143-1G>C) c.797-1G>C n.2414-1G>C c.2175-1G>C (n.2175-1G>C) c.1410-1G>C (n.1410-1G>C) | |
| 3 | g.130997605G>T | CA354536915 | ATP2C1 | c.2244-1G>T (n.2244-1G>T) c.2229-1G>T (n.2229-1G>T) c.2105-1G>T c.2196-1G>T (n.2196-1G>T) c.2346-1G>T (n.2346-1G>T) c.143-1G>T (n.143-1G>T) c.797-1G>T n.2414-1G>T c.2175-1G>T (n.2175-1G>T) c.1410-1G>T (n.1410-1G>T) | |
| 3 | g.130997606C>A | CA354536917 | ATP2C1 | c.2244C>A (p.Ser748Arg) c.2229C>A (p.Ser743Arg) c.2105C>A c.2196C>A (p.Ser732Arg) c.2346C>A (p.Ser782Arg) c.143C>A (p.Ala48Asp) c.797C>A n.2414C>A c.2175C>A (p.Ser725Arg) c.1410C>A (p.Ser470Arg) | |
| 3 | g.130997606C>G | CA354536918 | ATP2C1 | c.2244C>G (p.Ser748Arg) c.2229C>G (p.Ser743Arg) c.2105C>G c.2196C>G (p.Ser732Arg) c.2346C>G (p.Ser782Arg) c.143C>G (p.Ala48Gly) c.797C>G n.2414C>G c.2175C>G (p.Ser725Arg) c.1410C>G (p.Ser470Arg) | |
| 3 | g.130997606C>T | CA435662188 | ATP2C1 | c.2244C>T (p.Ser748=) c.2229C>T (p.Ser743=) c.2105C>T c.2196C>T (p.Ser732=) c.2346C>T (p.Ser782=) c.143C>T (p.Ala48Val) c.797C>T n.2414C>T c.2175C>T (p.Ser725=) c.1410C>T (p.Ser470=) | gnomAD v4 |
| 3 | g.130997607C>A | CA354536922 | ATP2C1 | c.2245C>A (p.Leu749Ile) c.2230C>A (p.Leu744Ile) c.2106C>A c.2197C>A (p.Leu733Ile) c.2347C>A (p.Leu783Ile) c.144C>A (p.Ala48=) c.798C>A n.2415C>A c.2176C>A (p.Leu726Ile) c.1411C>A (p.Leu471Ile) | |
| 3 | g.130997607C>G | CA354536924 | ATP2C1 | c.2245C>G (p.Leu749Val) c.2230C>G (p.Leu744Val) c.2106C>G c.2197C>G (p.Leu733Val) c.2347C>G (p.Leu783Val) c.144C>G (p.Ala48=) c.798C>G n.2415C>G c.2176C>G (p.Leu726Val) c.1411C>G (p.Leu471Val) | |
| 3 | g.130997607C>T | CA354536926 | ATP2C1 | c.2245C>T (p.Leu749Phe) c.2230C>T (p.Leu744Phe) c.2106C>T c.2197C>T (p.Leu733Phe) c.2347C>T (p.Leu783Phe) c.144C>T (p.Ala48=) c.798C>T n.2415C>T c.2176C>T (p.Leu726Phe) c.1411C>T (p.Leu471Phe) | gnomAD v4 |
| 3 | g.130997608T>A | CA354536929 | ATP2C1 | c.2246T>A (p.Leu749His) c.2231T>A (p.Leu744His) c.2107T>A c.2198T>A (p.Leu733His) c.2348T>A (p.Leu783His) c.145T>A (p.Leu49Met) c.799T>A n.2416T>A c.2177T>A (p.Leu726His) c.1412T>A (p.Leu471His) | |
| 3 | g.130997608T>C | CA354536931 | ATP2C1 | c.2246T>C (p.Leu749Pro) c.2231T>C (p.Leu744Pro) c.2107T>C c.2198T>C (p.Leu733Pro) c.2348T>C (p.Leu783Pro) c.145T>C (p.Leu49=) c.799T>C n.2416T>C c.2177T>C (p.Leu726Pro) c.1412T>C (p.Leu471Pro) | |
| 3 | g.130997608T>G | CA354536933 | ATP2C1 | c.2246T>G (p.Leu749Arg) c.2231T>G (p.Leu744Arg) c.2107T>G c.2198T>G (p.Leu733Arg) c.2348T>G (p.Leu783Arg) c.145T>G (p.Leu49Val) c.799T>G n.2416T>G c.2177T>G (p.Leu726Arg) c.1412T>G (p.Leu471Arg) | |
| 3 | g.130997609T>A | CA435662197 | ATP2C1 | c.2247T>A (p.Leu749=) c.2232T>A (p.Leu744=) c.2108T>A c.2199T>A (p.Leu733=) c.2349T>A (p.Leu783=) c.146T>A (p.Leu49Ter) c.800T>A n.2417T>A c.2178T>A (p.Leu726=) c.1413T>A (p.Leu471=) | |
| 3 | g.130997609T>C | CA435662200 | ATP2C1 | c.2247T>C (p.Leu749=) c.2232T>C (p.Leu744=) c.2108T>C c.2199T>C (p.Leu733=) c.2349T>C (p.Leu783=) c.146T>C (p.Leu49Ser) c.800T>C n.2417T>C c.2178T>C (p.Leu726=) c.1413T>C (p.Leu471=) | |
| 3 | g.130997609T>G | CA435662202 | ATP2C1 | c.2247T>G (p.Leu749=) c.2232T>G (p.Leu744=) c.2108T>G c.2199T>G (p.Leu733=) c.2349T>G (p.Leu783=) c.146T>G (p.Leu49Trp) c.800T>G n.2417T>G c.2178T>G (p.Leu726=) c.1413T>G (p.Leu471=) | |
| 3 | g.130997610G>A | CA354536942 | ATP2C1 | c.2248G>A (p.Gly750Arg) c.2233G>A (p.Gly745Arg) c.2109G>A c.2200G>A (p.Gly734Arg) c.2350G>A (p.Gly784Arg) c.147G>A (p.Leu49=) c.801G>A n.2418G>A c.2179G>A (p.Gly727Arg) c.1414G>A (p.Gly472Arg) | |
| 3 | g.130997610G>C | CA354536940 | ATP2C1 | c.2248G>C (p.Gly750Arg) c.2233G>C (p.Gly745Arg) c.2109G>C c.2200G>C (p.Gly734Arg) c.2350G>C (p.Gly784Arg) c.147G>C (p.Leu49Phe) c.801G>C n.2418G>C c.2179G>C (p.Gly727Arg) c.1414G>C (p.Gly472Arg) | |
| 3 | g.130997610G>T | CA354536937 | ATP2C1 | c.2248G>T (p.Gly750Ter) c.2233G>T (p.Gly745Ter) c.2109G>T c.2200G>T (p.Gly734Ter) c.2350G>T (p.Gly784Ter) c.147G>T (p.Leu49Phe) c.801G>T n.2418G>T c.2179G>T (p.Gly727Ter) c.1414G>T (p.Gly472Ter) | gnomAD v4 |
| 3 | g.130997611G>A | CA354536945 | ATP2C1 | c.2249G>A (p.Gly750Glu) c.2234G>A (p.Gly745Glu) c.2110G>A c.2201G>A (p.Gly734Glu) c.2351G>A (p.Gly784Glu) c.148G>A (p.Glu50Lys) c.802G>A n.2419G>A c.2180G>A (p.Gly727Glu) c.1415G>A (p.Gly472Glu) | |
| 3 | g.130997611G>C | CA354536947 | ATP2C1 | c.2249G>C (p.Gly750Ala) c.2234G>C (p.Gly745Ala) c.2110G>C c.2201G>C (p.Gly734Ala) c.2351G>C (p.Gly784Ala) c.148G>C (p.Glu50Gln) c.802G>C n.2419G>C c.2180G>C (p.Gly727Ala) c.1415G>C (p.Gly472Ala) | |
| 3 | g.130997611G>T | CA354536949 | ATP2C1 | c.2249G>T (p.Gly750Val) c.2234G>T (p.Gly745Val) c.2110G>T c.2201G>T (p.Gly734Val) c.2351G>T (p.Gly784Val) c.148G>T (p.Glu50Ter) c.802G>T n.2419G>T c.2180G>T (p.Gly727Val) c.1415G>T (p.Gly472Val) | |
| 3 | g.130997612A= | CA1401883559 | ATP2C1 | c.2250A= (p.Gly750=) c.2235A= (p.Gly745=) c.2111A= c.2202A= (p.Gly734=) c.2352A= (p.Gly784=) c.149A= (p.Glu50=) c.803A= n.2420A= c.2181A= (p.Gly727=) c.1416A= (p.Gly472=) | |
| 3 | g.130997612A>C | CA435662210 | ATP2C1 | c.2250A>C (p.Gly750=) c.2235A>C (p.Gly745=) c.2111A>C c.2202A>C (p.Gly734=) c.2352A>C (p.Gly784=) c.149A>C (p.Glu50Ala) c.803A>C n.2420A>C c.2181A>C (p.Gly727=) c.1416A>C (p.Gly472=) | dbSNP gnomAD v4 |
| 3 | g.130997612A>G | CA435662211 | ATP2C1 | c.2250A>G (p.Gly750=) c.2235A>G (p.Gly745=) c.2111A>G c.2202A>G (p.Gly734=) c.2352A>G (p.Gly784=) c.149A>G (p.Glu50Gly) c.803A>G n.2420A>G c.2181A>G (p.Gly727=) c.1416A>G (p.Gly472=) | |
| 3 | g.130997612A>T | CA435662214 | ATP2C1 | c.2250A>T (p.Gly750=) c.2235A>T (p.Gly745=) c.2111A>T c.2202A>T (p.Gly734=) c.2352A>T (p.Gly784=) c.149A>T (p.Glu50Val) c.803A>T n.2420A>T c.2181A>T (p.Gly727=) c.1416A>T (p.Gly472=) | |
| 3 | g.130997613G>A | CA354536953 | ATP2C1 | c.2251G>A (p.Val751Ile) c.2236G>A (p.Val746Ile) c.2112G>A c.2203G>A (p.Val735Ile) c.2353G>A (p.Val785Ile) c.150G>A (p.Glu50=) c.804G>A n.2421G>A c.2182G>A (p.Val728Ile) c.1417G>A (p.Val473Ile) | gnomAD v4 |
| 3 | g.130997613G>C | CA354536955 | ATP2C1 | c.2251G>C (p.Val751Leu) c.2236G>C (p.Val746Leu) c.2112G>C c.2203G>C (p.Val735Leu) c.2353G>C (p.Val785Leu) c.150G>C (p.Glu50Asp) c.804G>C n.2421G>C c.2182G>C (p.Val728Leu) c.1417G>C (p.Val473Leu) | |
| 3 | g.130997613G>T | CA354536957 | ATP2C1 | c.2251G>T (p.Val751Leu) c.2236G>T (p.Val746Leu) c.2112G>T c.2203G>T (p.Val735Leu) c.2353G>T (p.Val785Leu) c.150G>T (p.Glu50Asp) c.804G>T n.2421G>T c.2182G>T (p.Val728Leu) c.1417G>T (p.Val473Leu) | |
| 3 | g.130997613_130997614del | CA2586965906 | ATP2C1 | c.2251_2252del (p.Val751ArgfsTer5) c.2236_2237del (p.Val746ArgfsTer5) c.2112_2113del c.2203_2204del (p.Val735ArgfsTer5) c.2353_2354del (p.Val785ArgfsTer5) c.150_151del (p.Ter51GluextTer?) c.804_805del n.2421_2422del c.2182_2183del (p.Val728ArgfsTer5) c.1417_1418del (p.Val473ArgfsTer5) | |
| 3 | g.130997614T>A | CA354536960 | ATP2C1 | c.2252T>A (p.Val751Glu) c.2237T>A (p.Val746Glu) c.2113T>A c.2204T>A (p.Val735Glu) c.2354T>A (p.Val785Glu) c.151T>A (p.Ter51Lys) c.805T>A n.2422T>A c.2183T>A (p.Val728Glu) c.1418T>A (p.Val473Glu) | |
| 3 | g.130997614T>C | CA354536962 | ATP2C1 | c.2252T>C (p.Val751Ala) c.2237T>C (p.Val746Ala) c.2113T>C c.2204T>C (p.Val735Ala) c.2354T>C (p.Val785Ala) c.151T>C (p.Ter51Gln) c.805T>C n.2422T>C c.2183T>C (p.Val728Ala) c.1418T>C (p.Val473Ala) | gnomAD v4 |
| 3 | g.130997614T>G | CA354536964 | ATP2C1 | c.2252T>G (p.Val751Gly) c.2237T>G (p.Val746Gly) c.2113T>G c.2204T>G (p.Val735Gly) c.2354T>G (p.Val785Gly) c.151T>G (p.Ter51Glu) c.805T>G n.2422T>G c.2183T>G (p.Val728Gly) c.1418T>G (p.Val473Gly) | |
| 3 | g.130997615A= | CA1401883562 | ATP2C1 | c.2253A= (p.Val751=) c.2238A= (p.Val746=) c.2114A= c.2205A= (p.Val735=) c.2355A= (p.Val785=) c.152A= (p.Ter51=) c.806A= n.2423A= c.2184A= (p.Val728=) c.1419A= (p.Val473=) | |
| 3 | g.130997615A>C | CA435662217 | ATP2C1 | c.2253A>C (p.Val751=) c.2238A>C (p.Val746=) c.2114A>C c.2205A>C (p.Val735=) c.2355A>C (p.Val785=) c.152A>C (p.Ter51Ser) c.806A>C n.2423A>C c.2184A>C (p.Val728=) c.1419A>C (p.Val473=) | |
| 3 | g.130997615A>G | CA83503984 | ATP2C1 | c.2253A>G (p.Val751=) c.2238A>G (p.Val746=) c.2114A>G c.2205A>G (p.Val735=) c.2355A>G (p.Val785=) c.152A>G (p.Ter51Trp) c.806A>G n.2423A>G c.2184A>G (p.Val728=) c.1419A>G (p.Val473=) | dbSNP |
| 3 | g.130997615A>T | CA435662220 | ATP2C1 | c.2253A>T (p.Val751=) c.2238A>T (p.Val746=) c.2114A>T c.2205A>T (p.Val735=) c.2355A>T (p.Val785=) c.152A>T (p.Ter51Leu) c.806A>T n.2423A>T c.2184A>T (p.Val728=) c.1419A>T (p.Val473=) | |
| 3 | g.130997616G>A | CA354536968 | ATP2C1 | c.2254G>A (p.Glu752Lys) c.2239G>A (p.Glu747Lys) c.2115G>A c.2206G>A (p.Glu736Lys) c.2356G>A (p.Glu786Lys) c.153G>A (p.Ter51=) c.807G>A n.2424G>A c.2185G>A (p.Glu729Lys) c.1420G>A (p.Glu474Lys) | |
| 3 | g.130997616G>C | CA354536970 | ATP2C1 | c.2254G>C (p.Glu752Gln) c.2239G>C (p.Glu747Gln) c.2115G>C c.2206G>C (p.Glu736Gln) c.2356G>C (p.Glu786Gln) c.153G>C (p.Ter51Tyr) c.807G>C n.2424G>C c.2185G>C (p.Glu729Gln) c.1420G>C (p.Glu474Gln) | |
| 3 | g.130997616G>T | CA354536972 | ATP2C1 | c.2254G>T (p.Glu752Ter) c.2239G>T (p.Glu747Ter) c.2115G>T c.2206G>T (p.Glu736Ter) c.2356G>T (p.Glu786Ter) c.153G>T (p.Ter51Tyr) c.807G>T n.2424G>T c.2185G>T (p.Glu729Ter) c.1420G>T (p.Glu474Ter) | |
| 3 | g.130997617A>C | CA354536977 | ATP2C1 | c.2255A>C (p.Glu752Ala) c.2240A>C (p.Glu747Ala) c.2116A>C c.2207A>C (p.Glu736Ala) c.2357A>C (p.Glu786Ala) c.154A>C (n.154A>C) c.808A>C n.2425A>C c.2186A>C (p.Glu729Ala) c.1421A>C (p.Glu474Ala) | |
| 3 | g.130997617A>G | CA354536980 | ATP2C1 | c.2255A>G (p.Glu752Gly) c.2240A>G (p.Glu747Gly) c.2116A>G c.2207A>G (p.Glu736Gly) c.2357A>G (p.Glu786Gly) c.154A>G (n.154A>G) c.808A>G n.2425A>G c.2186A>G (p.Glu729Gly) c.1421A>G (p.Glu474Gly) | |
| 3 | g.130997617A>T | CA354536976 | ATP2C1 | c.2255A>T (p.Glu752Val) c.2240A>T (p.Glu747Val) c.2116A>T c.2207A>T (p.Glu736Val) c.2357A>T (p.Glu786Val) c.154A>T (n.154A>T) c.808A>T n.2425A>T c.2186A>T (p.Glu729Val) c.1421A>T (p.Glu474Val) | |
| 3 | g.130997618_130997621del | CA2580068759 | ATP2C1 | c.2256_2259del (p.Pro753TrpfsTer18) c.2241_2244del (p.Pro748TrpfsTer18) c.2117_2120del c.2208_2211del (p.Pro737TrpfsTer18) c.2358_2361del (p.Pro787TrpfsTer18) c.155_158del (n.155_158del) c.809_812del n.2426_2429del c.2187_2190del (p.Pro730TrpfsTer18) c.1422_1425del (p.Pro475TrpfsTer18) | ClinVar |
| 3 | g.130997618A= | CA1401883564 | ATP2C1 | c.2256A= (p.Glu752=) c.2241A= (p.Glu747=) c.2117A= c.2208A= (p.Glu736=) c.2358A= (p.Glu786=) c.155A= (n.155A=) c.809A= n.2426A= c.2187A= (p.Glu729=) c.1422A= (p.Glu474=) | |
| 3 | g.130997618A>C | CA354536983 | ATP2C1 | c.2256A>C (p.Glu752Asp) c.2241A>C (p.Glu747Asp) c.2117A>C c.2208A>C (p.Glu736Asp) c.2358A>C (p.Glu786Asp) c.155A>C (n.155A>C) c.809A>C n.2426A>C c.2187A>C (p.Glu729Asp) c.1422A>C (p.Glu474Asp) | |
| 3 | g.130997618A>G | CA435662222 | ATP2C1 | c.2256A>G (p.Glu752=) c.2241A>G (p.Glu747=) c.2117A>G c.2208A>G (p.Glu736=) c.2358A>G (p.Glu786=) c.155A>G (n.155A>G) c.809A>G n.2426A>G c.2187A>G (p.Glu729=) c.1422A>G (p.Glu474=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.130997618A>T | CA354536985 | ATP2C1 | c.2256A>T (p.Glu752Asp) c.2241A>T (p.Glu747Asp) c.2117A>T c.2208A>T (p.Glu736Asp) c.2358A>T (p.Glu786Asp) c.155A>T (n.155A>T) c.809A>T n.2426A>T c.2187A>T (p.Glu729Asp) c.1422A>T (p.Glu474Asp) | |
| 3 | g.130997619C>A | CA354536987 | ATP2C1 | c.2257C>A (p.Pro753Thr) c.2242C>A (p.Pro748Thr) c.2118C>A c.2209C>A (p.Pro737Thr) c.2359C>A (p.Pro787Thr) c.156C>A (n.156C>A) c.810C>A n.2427C>A c.2188C>A (p.Pro730Thr) c.1423C>A (p.Pro475Thr) | |
| 3 | g.130997619C= | CA1401883567 | ATP2C1 | c.2257C= (p.Pro753=) c.2242C= (p.Pro748=) c.2118C= c.2209C= (p.Pro737=) c.2359C= (p.Pro787=) c.156C= (n.156C=) c.810C= n.2427C= c.2188C= (p.Pro730=) c.1423C= (p.Pro475=) | |
| 3 | g.130997619C>G | CA354536990 | ATP2C1 | c.2257C>G (p.Pro753Ala) c.2242C>G (p.Pro748Ala) c.2118C>G c.2209C>G (p.Pro737Ala) c.2359C>G (p.Pro787Ala) c.156C>G (n.156C>G) c.810C>G n.2427C>G c.2188C>G (p.Pro730Ala) c.1423C>G (p.Pro475Ala) |