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 |
|---|---|---|---|---|---|
| 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) | |
| 3 | g.130997619C>T | CA354536992 | ATP2C1 | c.2257C>T (p.Pro753Ser) c.2242C>T (p.Pro748Ser) c.2118C>T c.2209C>T (p.Pro737Ser) c.2359C>T (p.Pro787Ser) c.156C>T (n.156C>T) c.810C>T n.2427C>T c.2188C>T (p.Pro730Ser) c.1423C>T (p.Pro475Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.130997620C>A | CA354537000 | ATP2C1 | c.2258C>A (p.Pro753Gln) c.2243C>A (p.Pro748Gln) c.2119C>A c.2210C>A (p.Pro737Gln) c.2360C>A (p.Pro787Gln) c.157C>A (n.157C>A) c.811C>A n.2428C>A c.2189C>A (p.Pro730Gln) c.1424C>A (p.Pro475Gln) | |
| 3 | g.130997620C= | CA1401883571 | ATP2C1 | c.2258C= (p.Pro753=) c.2243C= (p.Pro748=) c.2119C= c.2210C= (p.Pro737=) c.2360C= (p.Pro787=) c.157C= (n.157C=) c.811C= n.2428C= c.2189C= (p.Pro730=) c.1424C= (p.Pro475=) | |
| 3 | g.130997620C>G | CA354536996 | ATP2C1 | c.2258C>G (p.Pro753Arg) c.2243C>G (p.Pro748Arg) c.2119C>G c.2210C>G (p.Pro737Arg) c.2360C>G (p.Pro787Arg) c.157C>G (n.157C>G) c.811C>G n.2428C>G c.2189C>G (p.Pro730Arg) c.1424C>G (p.Pro475Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.130997620C>T | CA354536998 | ATP2C1 | c.2258C>T (p.Pro753Leu) c.2243C>T (p.Pro748Leu) c.2119C>T c.2210C>T (p.Pro737Leu) c.2360C>T (p.Pro787Leu) c.157C>T (n.157C>T) c.811C>T n.2428C>T c.2189C>T (p.Pro730Leu) c.1424C>T (p.Pro475Leu) | |
| 3 | g.130997621A= | CA1401883574 | ATP2C1 | c.2259A= (p.Pro753=) c.2244A= (p.Pro748=) c.2120A= c.2211A= (p.Pro737=) c.2361A= (p.Pro787=) c.158A= (n.158A=) c.812A= n.2429A= c.2190A= (p.Pro730=) c.1425A= (p.Pro475=) | |
| 3 | g.130997621A>C | CA435662224 | ATP2C1 | c.2259A>C (p.Pro753=) c.2244A>C (p.Pro748=) c.2120A>C c.2211A>C (p.Pro737=) c.2361A>C (p.Pro787=) c.158A>C (n.158A>C) c.812A>C n.2429A>C c.2190A>C (p.Pro730=) c.1425A>C (p.Pro475=) | |
| 3 | g.130997621A>G | CA435662225 | ATP2C1 | c.2259A>G (p.Pro753=) c.2244A>G (p.Pro748=) c.2120A>G c.2211A>G (p.Pro737=) c.2361A>G (p.Pro787=) c.158A>G (n.158A>G) c.812A>G n.2429A>G c.2190A>G (p.Pro730=) c.1425A>G (p.Pro475=) | dbSNP |
| 3 | g.130997621A>T | CA435662227 | ATP2C1 | c.2259A>T (p.Pro753=) c.2244A>T (p.Pro748=) c.2120A>T c.2211A>T (p.Pro737=) c.2361A>T (p.Pro787=) c.158A>T (n.158A>T) c.812A>T n.2429A>T c.2190A>T (p.Pro730=) c.1425A>T (p.Pro475=) | COSMIC COSMIC |
| 3 | g.130997622G>A | CA354537003 | ATP2C1 | c.2260G>A (p.Val754Met) c.2245G>A (p.Val749Met) c.2121G>A c.2212G>A (p.Val738Met) c.2362G>A (p.Val788Met) c.159G>A (n.159G>A) c.813G>A n.2430G>A c.2191G>A (p.Val731Met) c.1426G>A (p.Val476Met) | |
| 3 | g.130997622G>C | CA354537005 | ATP2C1 | c.2260G>C (p.Val754Leu) c.2245G>C (p.Val749Leu) c.2121G>C c.2212G>C (p.Val738Leu) c.2362G>C (p.Val788Leu) c.159G>C (n.159G>C) c.813G>C n.2430G>C c.2191G>C (p.Val731Leu) c.1426G>C (p.Val476Leu) | |
| 3 | g.130997622G>T | CA354537008 | ATP2C1 | c.2260G>T (p.Val754Leu) c.2245G>T (p.Val749Leu) c.2121G>T c.2212G>T (p.Val738Leu) c.2362G>T (p.Val788Leu) c.159G>T (n.159G>T) c.813G>T n.2430G>T c.2191G>T (p.Val731Leu) c.1426G>T (p.Val476Leu) | gnomAD v4 |
| 3 | g.130997623T>A | CA354537011 | ATP2C1 | c.2261T>A (p.Val754Glu) c.2246T>A (p.Val749Glu) c.2122T>A c.2213T>A (p.Val738Glu) c.2363T>A (p.Val788Glu) c.160T>A (n.160T>A) c.814T>A n.2431T>A c.2192T>A (p.Val731Glu) c.1427T>A (p.Val476Glu) | gnomAD v4 |
| 3 | g.130997623T>C | CA354537013 | ATP2C1 | c.2261T>C (p.Val754Ala) c.2246T>C (p.Val749Ala) c.2122T>C c.2213T>C (p.Val738Ala) c.2363T>C (p.Val788Ala) c.160T>C (n.160T>C) c.814T>C n.2431T>C c.2192T>C (p.Val731Ala) c.1427T>C (p.Val476Ala) | |
| 3 | g.130997623T>G | CA354537014 | ATP2C1 | c.2261T>G (p.Val754Gly) c.2246T>G (p.Val749Gly) c.2122T>G c.2213T>G (p.Val738Gly) c.2363T>G (p.Val788Gly) c.160T>G (n.160T>G) c.814T>G n.2431T>G c.2192T>G (p.Val731Gly) c.1427T>G (p.Val476Gly) | |
| 3 | g.130997624G>A | CA435662228 | ATP2C1 | c.2262G>A (p.Val754=) c.2247G>A (p.Val749=) c.2123G>A c.2214G>A (p.Val738=) c.2364G>A (p.Val788=) c.161G>A (n.161G>A) c.815G>A n.2432G>A c.2193G>A (p.Val731=) c.1428G>A (p.Val476=) | |
| 3 | g.130997624G>C | CA435662230 | ATP2C1 | c.2262G>C (p.Val754=) c.2247G>C (p.Val749=) c.2123G>C c.2214G>C (p.Val738=) c.2364G>C (p.Val788=) c.161G>C (n.161G>C) c.815G>C n.2432G>C c.2193G>C (p.Val731=) c.1428G>C (p.Val476=) | gnomAD v4 |
| 3 | g.130997624G>T | CA435662233 | ATP2C1 | c.2262G>T (p.Val754=) c.2247G>T (p.Val749=) c.2123G>T c.2214G>T (p.Val738=) c.2364G>T (p.Val788=) c.161G>T (n.161G>T) c.815G>T n.2432G>T c.2193G>T (p.Val731=) c.1428G>T (p.Val476=) | |
| 3 | g.130997625G>A | CA354537017 | ATP2C1 | c.2263G>A (p.Asp755Asn) c.2248G>A (p.Asp750Asn) c.2124G>A c.2215G>A (p.Asp739Asn) c.2365G>A (p.Asp789Asn) c.162G>A (n.162G>A) c.816G>A n.2433G>A c.2194G>A (p.Asp732Asn) c.1429G>A (p.Asp477Asn) | |
| 3 | g.130997625G>C | CA354537016 | ATP2C1 | c.2263G>C (p.Asp755His) c.2248G>C (p.Asp750His) c.2124G>C c.2215G>C (p.Asp739His) c.2365G>C (p.Asp789His) c.162G>C (n.162G>C) c.816G>C n.2433G>C c.2194G>C (p.Asp732His) c.1429G>C (p.Asp477His) | |
| 3 | g.130997625G>T | CA354537015 | ATP2C1 | c.2263G>T (p.Asp755Tyr) c.2248G>T (p.Asp750Tyr) c.2124G>T c.2215G>T (p.Asp739Tyr) c.2365G>T (p.Asp789Tyr) c.162G>T (n.162G>T) c.816G>T n.2433G>T c.2194G>T (p.Asp732Tyr) c.1429G>T (p.Asp477Tyr) | |
| 3 | g.130997626del | CA2586965907 | ATP2C1 | c.2264del (p.Asp755ValfsTer17) c.2249del (p.Asp750ValfsTer17) c.2125del c.2216del (p.Asp739ValfsTer17) c.2366del (p.Asp789ValfsTer17) c.163del (n.163del) c.817del n.2434del c.2195del (p.Asp732ValfsTer17) c.1430del (p.Asp477ValfsTer17) | |
| 3 | g.130997626A>C | CA354537019 | ATP2C1 | c.2264A>C (p.Asp755Ala) c.2249A>C (p.Asp750Ala) c.2125A>C c.2216A>C (p.Asp739Ala) c.2366A>C (p.Asp789Ala) c.163A>C (n.163A>C) c.817A>C n.2434A>C c.2195A>C (p.Asp732Ala) c.1430A>C (p.Asp477Ala) | |
| 3 | g.130997626A>G | CA354537018 | ATP2C1 | c.2264A>G (p.Asp755Gly) c.2249A>G (p.Asp750Gly) c.2125A>G c.2216A>G (p.Asp739Gly) c.2366A>G (p.Asp789Gly) c.163A>G (n.163A>G) c.817A>G n.2434A>G c.2195A>G (p.Asp732Gly) c.1430A>G (p.Asp477Gly) | gnomAD v4 |
| 3 | g.130997626A>T | CA354537020 | ATP2C1 | c.2264A>T (p.Asp755Val) c.2249A>T (p.Asp750Val) c.2125A>T c.2216A>T (p.Asp739Val) c.2366A>T (p.Asp789Val) c.163A>T (n.163A>T) c.817A>T n.2434A>T c.2195A>T (p.Asp732Val) c.1430A>T (p.Asp477Val) | gnomAD v4 |
| 3 | g.130997627T>A | CA354537021 | ATP2C1 | c.2265T>A (p.Asp755Glu) c.2250T>A (p.Asp750Glu) c.2126T>A c.2217T>A (p.Asp739Glu) c.2367T>A (p.Asp789Glu) c.164T>A (n.164T>A) c.818T>A n.2435T>A c.2196T>A (p.Asp732Glu) c.1431T>A (p.Asp477Glu) | |
| 3 | g.130997627T>C | CA435662235 | ATP2C1 | c.2265T>C (p.Asp755=) c.2250T>C (p.Asp750=) c.2126T>C c.2217T>C (p.Asp739=) c.2367T>C (p.Asp789=) c.164T>C (n.164T>C) c.818T>C n.2435T>C c.2196T>C (p.Asp732=) c.1431T>C (p.Asp477=) | gnomAD v4 |
| 3 | g.130997627T>G | CA354537022 | ATP2C1 | c.2265T>G (p.Asp755Glu) c.2250T>G (p.Asp750Glu) c.2126T>G c.2217T>G (p.Asp739Glu) c.2367T>G (p.Asp789Glu) c.164T>G (n.164T>G) c.818T>G n.2435T>G c.2196T>G (p.Asp732Glu) c.1431T>G (p.Asp477Glu) | |
| 3 | g.130997628A= | CA1401883576 | ATP2C1 | c.2266A= (p.Lys756=) c.2251A= (p.Lys751=) c.2127A= c.2218A= (p.Lys740=) c.2368A= (p.Lys790=) c.165A= (n.165A=) c.819A= n.2436A= c.2197A= (p.Lys733=) c.1432A= (p.Lys478=) | |
| 3 | g.130997628A>C | CA354537023 | ATP2C1 | c.2266A>C (p.Lys756Gln) c.2251A>C (p.Lys751Gln) c.2127A>C c.2218A>C (p.Lys740Gln) c.2368A>C (p.Lys790Gln) c.165A>C (n.165A>C) c.819A>C n.2436A>C c.2197A>C (p.Lys733Gln) c.1432A>C (p.Lys478Gln) | dbSNP gnomAD v4 |
| 3 | g.130997628A>G | CA83503985 | ATP2C1 | c.2266A>G (p.Lys756Glu) c.2251A>G (p.Lys751Glu) c.2127A>G c.2218A>G (p.Lys740Glu) c.2368A>G (p.Lys790Glu) c.165A>G (n.165A>G) c.819A>G n.2436A>G c.2197A>G (p.Lys733Glu) c.1432A>G (p.Lys478Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.130997628A>T | CA354537024 | ATP2C1 | c.2266A>T (p.Lys756Ter) c.2251A>T (p.Lys751Ter) c.2127A>T c.2218A>T (p.Lys740Ter) c.2368A>T (p.Lys790Ter) c.165A>T (n.165A>T) c.819A>T n.2436A>T c.2197A>T (p.Lys733Ter) c.1432A>T (p.Lys478Ter) | |
| 3 | g.130997629A>C | CA354537025 | ATP2C1 | c.2267A>C (p.Lys756Thr) c.2252A>C (p.Lys751Thr) c.2128A>C c.2219A>C (p.Lys740Thr) c.2369A>C (p.Lys790Thr) c.166A>C (n.166A>C) c.820A>C n.2437A>C c.2198A>C (p.Lys733Thr) c.1433A>C (p.Lys478Thr) | |
| 3 | g.130997629A>G | CA354537026 | ATP2C1 | c.2267A>G (p.Lys756Arg) c.2252A>G (p.Lys751Arg) c.2128A>G c.2219A>G (p.Lys740Arg) c.2369A>G (p.Lys790Arg) c.166A>G (n.166A>G) c.820A>G n.2437A>G c.2198A>G (p.Lys733Arg) c.1433A>G (p.Lys478Arg) | |
| 3 | g.130997629A>T | CA354537027 | ATP2C1 | c.2267A>T (p.Lys756Ile) c.2252A>T (p.Lys751Ile) c.2128A>T c.2219A>T (p.Lys740Ile) c.2369A>T (p.Lys790Ile) c.166A>T (n.166A>T) c.820A>T n.2437A>T c.2198A>T (p.Lys733Ile) c.1433A>T (p.Lys478Ile) | |
| 3 | g.130997630A>C | CA354537028 | ATP2C1 | c.2268A>C (p.Lys756Asn) c.2253A>C (p.Lys751Asn) c.2129A>C c.2220A>C (p.Lys740Asn) c.2370A>C (p.Lys790Asn) c.167A>C (n.167A>C) c.821A>C n.2438A>C c.2199A>C (p.Lys733Asn) c.1434A>C (p.Lys478Asn) | |
| 3 | g.130997630A>G | CA435662237 | ATP2C1 | c.2268A>G (p.Lys756=) c.2253A>G (p.Lys751=) c.2129A>G c.2220A>G (p.Lys740=) c.2370A>G (p.Lys790=) c.167A>G (n.167A>G) c.821A>G n.2438A>G c.2199A>G (p.Lys733=) c.1434A>G (p.Lys478=) | |
| 3 | g.130997630A>T | CA354537029 | ATP2C1 | c.2268A>T (p.Lys756Asn) c.2253A>T (p.Lys751Asn) c.2129A>T c.2220A>T (p.Lys740Asn) c.2370A>T (p.Lys790Asn) c.167A>T (n.167A>T) c.821A>T n.2438A>T c.2199A>T (p.Lys733Asn) c.1434A>T (p.Lys478Asn) | |
| 3 | g.130997631G>A | CA354537030 | ATP2C1 | c.2269G>A (p.Asp757Asn) c.2254G>A (p.Asp752Asn) c.2130G>A c.2221G>A (p.Asp741Asn) c.2371G>A (p.Asp791Asn) c.168G>A (n.168G>A) c.822G>A n.2439G>A c.2200G>A (p.Asp734Asn) c.1435G>A (p.Asp479Asn) | |
| 3 | g.130997631G>C | CA354537032 | ATP2C1 | c.2269G>C (p.Asp757His) c.2254G>C (p.Asp752His) c.2130G>C c.2221G>C (p.Asp741His) c.2371G>C (p.Asp791His) c.168G>C (n.168G>C) c.822G>C n.2439G>C c.2200G>C (p.Asp734His) c.1435G>C (p.Asp479His) | |
| 3 | g.130997631G= | CA1401883581 | ATP2C1 | c.2269G= (p.Asp757=) c.2254G= (p.Asp752=) c.2130G= c.2221G= (p.Asp741=) c.2371G= (p.Asp791=) c.168G= (n.168G=) c.822G= n.2439G= c.2200G= (p.Asp734=) c.1435G= (p.Asp479=) | |
| 3 | g.130997631G>T | CA354537031 | ATP2C1 | c.2269G>T (p.Asp757Tyr) c.2254G>T (p.Asp752Tyr) c.2130G>T c.2221G>T (p.Asp741Tyr) c.2371G>T (p.Asp791Tyr) c.168G>T (n.168G>T) c.822G>T n.2439G>T c.2200G>T (p.Asp734Tyr) c.1435G>T (p.Asp479Tyr) | |
| 3 | g.130997632A>C | CA354537033 | ATP2C1 | c.2270A>C (p.Asp757Ala) c.2255A>C (p.Asp752Ala) c.2131A>C c.2222A>C (p.Asp741Ala) c.2372A>C (p.Asp791Ala) c.169A>C (n.169A>C) c.823A>C n.2440A>C c.2201A>C (p.Asp734Ala) c.1436A>C (p.Asp479Ala) | |
| 3 | g.130997632A>G | CA354537034 | ATP2C1 | c.2270A>G (p.Asp757Gly) c.2255A>G (p.Asp752Gly) c.2131A>G c.2222A>G (p.Asp741Gly) c.2372A>G (p.Asp791Gly) c.169A>G (n.169A>G) c.823A>G n.2440A>G c.2201A>G (p.Asp734Gly) c.1436A>G (p.Asp479Gly) | |
| 3 | g.130997632A>T | CA354537035 | ATP2C1 | c.2270A>T (p.Asp757Val) c.2255A>T (p.Asp752Val) c.2131A>T c.2222A>T (p.Asp741Val) c.2372A>T (p.Asp791Val) c.169A>T (n.169A>T) c.823A>T n.2440A>T c.2201A>T (p.Asp734Val) c.1436A>T (p.Asp479Val) | |
| 3 | g.130997632dup | CA898888552 | ATP2C1 | c.2270dup (p.Asp757GlufsTer5) c.2255dup (p.Asp752GlufsTer5) c.2131dup c.2222dup (p.Asp741GlufsTer5) c.2372dup (p.Asp791GlufsTer5) c.169dup (n.169dup) c.823dup n.2440dup c.2201dup (p.Asp734GlufsTer5) c.1436dup (p.Asp479GlufsTer5) | dbSNP |
| 3 | g.130997633T>A | CA354537036 | ATP2C1 | c.2271T>A (p.Asp757Glu) c.2256T>A (p.Asp752Glu) c.2132T>A c.2223T>A (p.Asp741Glu) c.2373T>A (p.Asp791Glu) c.170T>A (n.170T>A) c.824T>A n.2441T>A c.2202T>A (p.Asp734Glu) c.1437T>A (p.Asp479Glu) | |
| 3 | g.130997633T>C | CA435662239 | ATP2C1 | c.2271T>C (p.Asp757=) c.2256T>C (p.Asp752=) c.2132T>C c.2223T>C (p.Asp741=) c.2373T>C (p.Asp791=) c.170T>C (n.170T>C) c.824T>C n.2441T>C c.2202T>C (p.Asp734=) c.1437T>C (p.Asp479=) | |
| 3 | g.130997633T>G | CA354537037 | ATP2C1 | c.2271T>G (p.Asp757Glu) c.2256T>G (p.Asp752Glu) c.2132T>G c.2223T>G (p.Asp741Glu) c.2373T>G (p.Asp791Glu) c.170T>G (n.170T>G) c.824T>G n.2441T>G c.2202T>G (p.Asp734Glu) c.1437T>G (p.Asp479Glu) | |
| 3 | g.130997634G>A | CA354537038 | ATP2C1 | c.2272G>A (p.Val758Ile) c.2257G>A (p.Val753Ile) c.2133G>A c.2224G>A (p.Val742Ile) c.2374G>A (p.Val792Ile) c.171G>A (n.171G>A) c.825G>A n.2442G>A c.2203G>A (p.Val735Ile) c.1438G>A (p.Val480Ile) | |
| 3 | g.130997634G>C | CA354537040 | ATP2C1 | c.2272G>C (p.Val758Leu) c.2257G>C (p.Val753Leu) c.2133G>C c.2224G>C (p.Val742Leu) c.2374G>C (p.Val792Leu) c.171G>C (n.171G>C) c.825G>C n.2442G>C c.2203G>C (p.Val735Leu) c.1438G>C (p.Val480Leu) | |
| 3 | g.130997634G>T | CA354537039 | ATP2C1 | c.2272G>T (p.Val758Phe) c.2257G>T (p.Val753Phe) c.2133G>T c.2224G>T (p.Val742Phe) c.2374G>T (p.Val792Phe) c.171G>T (n.171G>T) c.825G>T n.2442G>T c.2203G>T (p.Val735Phe) c.1438G>T (p.Val480Phe) | |
| 3 | g.130997635T>A | CA354537041 | ATP2C1 | c.2273T>A (p.Val758Asp) c.2258T>A (p.Val753Asp) c.2134T>A c.2225T>A (p.Val742Asp) c.2375T>A (p.Val792Asp) c.172T>A (n.172T>A) c.826T>A n.2443T>A c.2204T>A (p.Val735Asp) c.1439T>A (p.Val480Asp) | |
| 3 | g.130997635T>C | CA354537042 | ATP2C1 | c.2273T>C (p.Val758Ala) c.2258T>C (p.Val753Ala) c.2134T>C c.2225T>C (p.Val742Ala) c.2375T>C (p.Val792Ala) c.172T>C (n.172T>C) c.826T>C n.2443T>C c.2204T>C (p.Val735Ala) c.1439T>C (p.Val480Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.130997635T>G | CA354537043 | ATP2C1 | c.2273T>G (p.Val758Gly) c.2258T>G (p.Val753Gly) c.2134T>G c.2225T>G (p.Val742Gly) c.2375T>G (p.Val792Gly) c.172T>G (n.172T>G) c.826T>G n.2443T>G c.2204T>G (p.Val735Gly) c.1439T>G (p.Val480Gly) | |
| 3 | g.130997635T= | CA1401883588 | ATP2C1 | c.2273T= (p.Val758=) c.2258T= (p.Val753=) c.2134T= c.2225T= (p.Val742=) c.2375T= (p.Val792=) c.172T= (n.172T=) c.826T= n.2443T= c.2204T= (p.Val735=) c.1439T= (p.Val480=) | |
| 3 | g.130997636C>A | CA435662327 | ATP2C1 | c.2274C>A (p.Val758=) c.2259C>A (p.Val753=) c.2135C>A c.2226C>A (p.Val742=) c.2376C>A (p.Val792=) c.173C>A (n.173C>A) c.827C>A n.2444C>A c.2205C>A (p.Val735=) c.1440C>A (p.Val480=) | gnomAD v4 |
| 3 | g.130997636C>G | CA435662328 | ATP2C1 | c.2274C>G (p.Val758=) c.2259C>G (p.Val753=) c.2135C>G c.2226C>G (p.Val742=) c.2376C>G (p.Val792=) c.173C>G (n.173C>G) c.827C>G n.2444C>G c.2205C>G (p.Val735=) c.1440C>G (p.Val480=) | dbSNP |
| 3 | g.130997636C>T | CA435662329 | ATP2C1 | c.2274C>T (p.Val758=) c.2259C>T (p.Val753=) c.2135C>T c.2226C>T (p.Val742=) c.2376C>T (p.Val792=) c.173C>T (n.173C>T) c.827C>T n.2444C>T c.2205C>T (p.Val735=) c.1440C>T (p.Val480=) | |
| 3 | g.130997637A>C | CA354537044 | ATP2C1 | c.2275A>C (p.Ile759Leu) c.2260A>C (p.Ile754Leu) c.2136A>C c.2227A>C (p.Ile743Leu) c.2377A>C (p.Ile793Leu) c.174A>C (n.174A>C) c.828A>C n.2445A>C c.2206A>C (p.Ile736Leu) c.1441A>C (p.Ile481Leu) | gnomAD v4 |
| 3 | g.130997637A>G | CA354537045 | ATP2C1 | c.2275A>G (p.Ile759Val) c.2260A>G (p.Ile754Val) c.2136A>G c.2227A>G (p.Ile743Val) c.2377A>G (p.Ile793Val) c.174A>G (n.174A>G) c.828A>G n.2445A>G c.2206A>G (p.Ile736Val) c.1441A>G (p.Ile481Val) | |
| 3 | g.130997637A>T | CA354537046 | ATP2C1 | c.2275A>T (p.Ile759Phe) c.2260A>T (p.Ile754Phe) c.2136A>T c.2227A>T (p.Ile743Phe) c.2377A>T (p.Ile793Phe) c.174A>T (n.174A>T) c.828A>T n.2445A>T c.2206A>T (p.Ile736Phe) c.1441A>T (p.Ile481Phe) | |
| 3 | g.130997638T>A | CA354537047 | ATP2C1 | c.2276T>A (p.Ile759Asn) c.2261T>A (p.Ile754Asn) c.2137T>A c.2228T>A (p.Ile743Asn) c.2378T>A (p.Ile793Asn) c.175T>A (n.175T>A) c.829T>A n.2446T>A c.2207T>A (p.Ile736Asn) c.1442T>A (p.Ile481Asn) | |
| 3 | g.130997638T>C | CA354537048 | ATP2C1 | c.2276T>C (p.Ile759Thr) c.2261T>C (p.Ile754Thr) c.2137T>C c.2228T>C (p.Ile743Thr) c.2378T>C (p.Ile793Thr) c.175T>C (n.175T>C) c.829T>C n.2446T>C c.2207T>C (p.Ile736Thr) c.1442T>C (p.Ile481Thr) | |
| 3 | g.130997638T>G | CA2615358 | ATP2C1 | c.2276T>G (p.Ile759Ser) c.2261T>G (p.Ile754Ser) c.2137T>G c.2228T>G (p.Ile743Ser) c.2378T>G (p.Ile793Ser) c.175T>G (n.175T>G) c.829T>G n.2446T>G c.2207T>G (p.Ile736Ser) c.1442T>G (p.Ile481Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.130997638T= | CA1401883594 | ATP2C1 | c.2276T= (p.Ile759=) c.2261T= (p.Ile754=) c.2137T= c.2228T= (p.Ile743=) c.2378T= (p.Ile793=) c.175T= (n.175T=) c.829T= n.2446T= c.2207T= (p.Ile736=) c.1442T= (p.Ile481=) | |
| 3 | g.130997639T>A | CA435662331 | ATP2C1 | c.2277T>A (p.Ile759=) c.2262T>A (p.Ile754=) c.2138T>A c.2229T>A (p.Ile743=) c.2379T>A (p.Ile793=) c.176T>A (n.176T>A) c.830T>A n.2447T>A c.2208T>A (p.Ile736=) c.1443T>A (p.Ile481=) | |
| 3 | g.130997639T>C | CA435662332 | ATP2C1 | c.2277T>C (p.Ile759=) c.2262T>C (p.Ile754=) c.2138T>C c.2229T>C (p.Ile743=) c.2379T>C (p.Ile793=) c.176T>C (n.176T>C) c.830T>C n.2447T>C c.2208T>C (p.Ile736=) c.1443T>C (p.Ile481=) | |
| 3 | g.130997639T>G | CA354537049 | ATP2C1 | c.2277T>G (p.Ile759Met) c.2262T>G (p.Ile754Met) c.2138T>G c.2229T>G (p.Ile743Met) c.2379T>G (p.Ile793Met) c.176T>G (n.176T>G) c.830T>G n.2447T>G c.2208T>G (p.Ile736Met) c.1443T>G (p.Ile481Met) | |
| 3 | g.130997640C>A | CA354537050 | ATP2C1 | c.2278C>A (p.Arg760Ser) c.2263C>A (p.Arg755Ser) c.2139C>A c.2230C>A (p.Arg744Ser) c.2380C>A (p.Arg794Ser) c.177C>A (n.177C>A) c.831C>A n.2448C>A c.2209C>A (p.Arg737Ser) c.1444C>A (p.Arg482Ser) | |
| 3 | g.130997640C= | CA1401883596 | ATP2C1 | c.2278C= (p.Arg760=) c.2263C= (p.Arg755=) c.2139C= c.2230C= (p.Arg744=) c.2380C= (p.Arg794=) c.177C= (n.177C=) c.831C= n.2448C= c.2209C= (p.Arg737=) c.1444C= (p.Arg482=) | |
| 3 | g.130997640C>G | CA354537051 | ATP2C1 | c.2278C>G (p.Arg760Gly) c.2263C>G (p.Arg755Gly) c.2139C>G c.2230C>G (p.Arg744Gly) c.2380C>G (p.Arg794Gly) c.177C>G (n.177C>G) c.831C>G n.2448C>G c.2209C>G (p.Arg737Gly) c.1444C>G (p.Arg482Gly) | |
| 3 | g.130997640C>T | CA2615359 | ATP2C1 | c.2278C>T (p.Arg760Cys) c.2263C>T (p.Arg755Cys) c.2139C>T c.2230C>T (p.Arg744Cys) c.2380C>T (p.Arg794Cys) c.177C>T (n.177C>T) c.831C>T n.2448C>T c.2209C>T (p.Arg737Cys) c.1444C>T (p.Arg482Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.130997641G>A | CA2615360 | ATP2C1 | c.2279G>A (p.Arg760His) c.2264G>A (p.Arg755His) c.2140G>A c.2231G>A (p.Arg744His) c.2381G>A (p.Arg794His) c.178G>A (n.178G>A) c.832G>A n.2449G>A c.2210G>A (p.Arg737His) c.1445G>A (p.Arg482His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.130997641G>C | CA354537053 | ATP2C1 | c.2279G>C (p.Arg760Pro) c.2264G>C (p.Arg755Pro) c.2140G>C c.2231G>C (p.Arg744Pro) c.2381G>C (p.Arg794Pro) c.178G>C (n.178G>C) c.832G>C n.2449G>C c.2210G>C (p.Arg737Pro) c.1445G>C (p.Arg482Pro) | |
| 3 | g.130997641G= | CA1401883600 | ATP2C1 | c.2279G= (p.Arg760=) c.2264G= (p.Arg755=) c.2140G= c.2231G= (p.Arg744=) c.2381G= (p.Arg794=) c.178G= (n.178G=) c.832G= n.2449G= c.2210G= (p.Arg737=) c.1445G= (p.Arg482=) | |
| 3 | g.130997641G>T | CA354537052 | ATP2C1 | c.2279G>T (p.Arg760Leu) c.2264G>T (p.Arg755Leu) c.2140G>T c.2231G>T (p.Arg744Leu) c.2381G>T (p.Arg794Leu) c.178G>T (n.178G>T) c.832G>T n.2449G>T c.2210G>T (p.Arg737Leu) c.1445G>T (p.Arg482Leu) | |
| 3 | g.130997642T>A | CA435662333 | ATP2C1 | c.2280T>A (p.Arg760=) c.2265T>A (p.Arg755=) c.2141T>A c.2232T>A (p.Arg744=) c.2382T>A (p.Arg794=) c.179T>A (n.179T>A) c.833T>A n.2450T>A c.2211T>A (p.Arg737=) c.1446T>A (p.Arg482=) | |
| 3 | g.130997642T>C | CA435662334 | ATP2C1 | c.2280T>C (p.Arg760=) c.2265T>C (p.Arg755=) c.2141T>C c.2232T>C (p.Arg744=) c.2382T>C (p.Arg794=) c.179T>C (n.179T>C) c.833T>C n.2450T>C c.2211T>C (p.Arg737=) c.1446T>C (p.Arg482=) | |
| 3 | g.130997642T>G | CA435662336 | ATP2C1 | c.2280T>G (p.Arg760=) c.2265T>G (p.Arg755=) c.2141T>G c.2232T>G (p.Arg744=) c.2382T>G (p.Arg794=) c.179T>G (n.179T>G) c.833T>G n.2450T>G c.2211T>G (p.Arg737=) c.1446T>G (p.Arg482=) | |
| 3 | g.130997643A>C | CA354537054 | ATP2C1 | c.2281A>C (p.Lys761Gln) c.2266A>C (p.Lys756Gln) c.2142A>C c.2233A>C (p.Lys745Gln) c.2383A>C (p.Lys795Gln) c.180A>C (n.180A>C) c.834A>C n.2451A>C c.2212A>C (p.Lys738Gln) c.1447A>C (p.Lys483Gln) | |
| 3 | g.130997643A>G | CA354537056 | ATP2C1 | c.2281A>G (p.Lys761Glu) c.2266A>G (p.Lys756Glu) c.2142A>G c.2233A>G (p.Lys745Glu) c.2383A>G (p.Lys795Glu) c.180A>G (n.180A>G) c.834A>G n.2451A>G c.2212A>G (p.Lys738Glu) c.1447A>G (p.Lys483Glu) | |
| 3 | g.130997643A>T | CA354537055 | ATP2C1 | c.2281A>T (p.Lys761Ter) c.2266A>T (p.Lys756Ter) c.2142A>T c.2233A>T (p.Lys745Ter) c.2383A>T (p.Lys795Ter) c.180A>T (n.180A>T) c.834A>T n.2451A>T c.2212A>T (p.Lys738Ter) c.1447A>T (p.Lys483Ter) | |
| 3 | g.130997644A>C | CA354537057 | ATP2C1 | c.2282A>C (p.Lys761Thr) c.2267A>C (p.Lys756Thr) c.2143A>C c.2234A>C (p.Lys745Thr) c.2384A>C (p.Lys795Thr) c.181A>C (n.181A>C) c.835A>C n.2452A>C c.2213A>C (p.Lys738Thr) c.1448A>C (p.Lys483Thr) | |
| 3 | g.130997644A>G | CA354537058 | ATP2C1 | c.2282A>G (p.Lys761Arg) c.2267A>G (p.Lys756Arg) c.2143A>G c.2234A>G (p.Lys745Arg) c.2384A>G (p.Lys795Arg) c.181A>G (n.181A>G) c.835A>G n.2452A>G c.2213A>G (p.Lys738Arg) c.1448A>G (p.Lys483Arg) | |
| 3 | g.130997644A>T | CA354537059 | ATP2C1 | c.2282A>T (p.Lys761Ile) c.2267A>T (p.Lys756Ile) c.2143A>T c.2234A>T (p.Lys745Ile) c.2384A>T (p.Lys795Ile) c.181A>T (n.181A>T) c.835A>T n.2452A>T c.2213A>T (p.Lys738Ile) c.1448A>T (p.Lys483Ile) | |
| 3 | g.130997645A>C | CA354537060 | ATP2C1 | c.2283A>C (p.Lys761Asn) c.2268A>C (p.Lys756Asn) c.2144A>C c.2235A>C (p.Lys745Asn) c.2385A>C (p.Lys795Asn) c.182A>C (n.182A>C) c.836A>C n.2453A>C c.2214A>C (p.Lys738Asn) c.1449A>C (p.Lys483Asn) | |
| 3 | g.130997645A>G | CA435662339 | ATP2C1 | c.2283A>G (p.Lys761=) c.2268A>G (p.Lys756=) c.2144A>G c.2235A>G (p.Lys745=) c.2385A>G (p.Lys795=) c.182A>G (n.182A>G) c.836A>G n.2453A>G c.2214A>G (p.Lys738=) c.1449A>G (p.Lys483=) | |
| 3 | g.130997645A>T | CA354537061 | ATP2C1 | c.2283A>T (p.Lys761Asn) c.2268A>T (p.Lys756Asn) c.2144A>T c.2235A>T (p.Lys745Asn) c.2385A>T (p.Lys795Asn) c.182A>T (n.182A>T) c.836A>T n.2453A>T c.2214A>T (p.Lys738Asn) c.1449A>T (p.Lys483Asn) | |
| 3 | g.130997646C>A | CA354537062 | ATP2C1 | c.2284C>A (p.Pro762Thr) c.2269C>A (p.Pro757Thr) c.2145C>A c.2236C>A (p.Pro746Thr) c.2386C>A (p.Pro796Thr) c.183C>A (n.183C>A) c.837C>A n.2454C>A c.2215C>A (p.Pro739Thr) c.1450C>A (p.Pro484Thr) | |
| 3 | g.130997646C= | CA1401883601 | ATP2C1 | c.2284C= (p.Pro762=) c.2269C= (p.Pro757=) c.2145C= c.2236C= (p.Pro746=) c.2386C= (p.Pro796=) c.183C= (n.183C=) c.837C= n.2454C= c.2215C= (p.Pro739=) c.1450C= (p.Pro484=) | |
| 3 | g.130997646C>G | CA354537063 | ATP2C1 | c.2284C>G (p.Pro762Ala) c.2269C>G (p.Pro757Ala) c.2145C>G c.2236C>G (p.Pro746Ala) c.2386C>G (p.Pro796Ala) c.183C>G (n.183C>G) c.837C>G n.2454C>G c.2215C>G (p.Pro739Ala) c.1450C>G (p.Pro484Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.130997646C>T | CA354537064 | ATP2C1 | c.2284C>T (p.Pro762Ser) c.2269C>T (p.Pro757Ser) c.2145C>T c.2236C>T (p.Pro746Ser) c.2386C>T (p.Pro796Ser) c.183C>T (n.183C>T) c.837C>T n.2454C>T c.2215C>T (p.Pro739Ser) c.1450C>T (p.Pro484Ser) | gnomAD v4 |
| 3 | g.130997647C>A | CA354537065 | ATP2C1 | c.2285C>A (p.Pro762His) c.2270C>A (p.Pro757His) c.2146C>A c.2237C>A (p.Pro746His) c.2387C>A (p.Pro796His) c.184C>A (n.184C>A) c.838C>A n.2455C>A c.2216C>A (p.Pro739His) c.1451C>A (p.Pro484His) | |
| 3 | g.130997647C>G | CA354537066 | ATP2C1 | c.2285C>G (p.Pro762Arg) c.2270C>G (p.Pro757Arg) c.2146C>G c.2237C>G (p.Pro746Arg) c.2387C>G (p.Pro796Arg) c.184C>G (n.184C>G) c.838C>G n.2455C>G c.2216C>G (p.Pro739Arg) c.1451C>G (p.Pro484Arg) | |
| 3 | g.130997647C>T | CA354537067 | ATP2C1 | c.2285C>T (p.Pro762Leu) c.2270C>T (p.Pro757Leu) c.2146C>T c.2237C>T (p.Pro746Leu) c.2387C>T (p.Pro796Leu) c.184C>T (n.184C>T) c.838C>T n.2455C>T c.2216C>T (p.Pro739Leu) c.1451C>T (p.Pro484Leu) | |
| 3 | g.130997648T>A | CA435662340 | ATP2C1 | c.2286T>A (p.Pro762=) c.2271T>A (p.Pro757=) c.2147T>A c.2238T>A (p.Pro746=) c.2388T>A (p.Pro796=) c.185T>A (n.185T>A) c.839T>A n.2456T>A c.2217T>A (p.Pro739=) c.1452T>A (p.Pro484=) | dbSNP |
| 3 | g.130997648T>C | CA435662341 | ATP2C1 | c.2286T>C (p.Pro762=) c.2271T>C (p.Pro757=) c.2147T>C c.2238T>C (p.Pro746=) c.2388T>C (p.Pro796=) c.185T>C (n.185T>C) c.839T>C n.2456T>C c.2217T>C (p.Pro739=) c.1452T>C (p.Pro484=) | gnomAD v4 |
| 3 | g.130997648T>G | CA435662342 | ATP2C1 | c.2286T>G (p.Pro762=) c.2271T>G (p.Pro757=) c.2147T>G c.2238T>G (p.Pro746=) c.2388T>G (p.Pro796=) c.185T>G (n.185T>G) c.839T>G n.2456T>G c.2217T>G (p.Pro739=) c.1452T>G (p.Pro484=) | |
| 3 | g.130997648T= | CA1401883604 | ATP2C1 | c.2286T= (p.Pro762=) c.2271T= (p.Pro757=) c.2147T= c.2238T= (p.Pro746=) c.2388T= (p.Pro796=) c.185T= (n.185T=) c.839T= n.2456T= c.2217T= (p.Pro739=) c.1452T= (p.Pro484=) | |
| 3 | g.130997649C>A | CA354537070 | ATP2C1 | c.2287C>A (p.Pro763Thr) c.2272C>A (p.Pro758Thr) c.2148C>A c.2239C>A (p.Pro747Thr) c.2389C>A (p.Pro797Thr) c.186C>A (n.186C>A) c.840C>A n.2457C>A c.2218C>A (p.Pro740Thr) c.1453C>A (p.Pro485Thr) | |
| 3 | g.130997649C>G | CA354537069 | ATP2C1 | c.2287C>G (p.Pro763Ala) c.2272C>G (p.Pro758Ala) c.2148C>G c.2239C>G (p.Pro747Ala) c.2389C>G (p.Pro797Ala) c.186C>G (n.186C>G) c.840C>G n.2457C>G c.2218C>G (p.Pro740Ala) c.1453C>G (p.Pro485Ala) | |
| 3 | g.130997649C>T | CA354537068 | ATP2C1 | c.2287C>T (p.Pro763Ser) c.2272C>T (p.Pro758Ser) c.2148C>T c.2239C>T (p.Pro747Ser) c.2389C>T (p.Pro797Ser) c.186C>T (n.186C>T) c.840C>T n.2457C>T c.2218C>T (p.Pro740Ser) c.1453C>T (p.Pro485Ser) | gnomAD v4 |
| 3 | g.130997650C>A | CA354537071 | ATP2C1 | c.2288C>A (p.Pro763His) c.2273C>A (p.Pro758His) c.2149C>A c.2240C>A (p.Pro747His) c.2390C>A (p.Pro797His) c.187C>A (n.187C>A) c.841C>A n.2458C>A c.2219C>A (p.Pro740His) c.1454C>A (p.Pro485His) | |
| 3 | g.130997650C>G | CA354537072 | ATP2C1 | c.2288C>G (p.Pro763Arg) c.2273C>G (p.Pro758Arg) c.2149C>G c.2240C>G (p.Pro747Arg) c.2390C>G (p.Pro797Arg) c.187C>G (n.187C>G) c.841C>G n.2458C>G c.2219C>G (p.Pro740Arg) c.1454C>G (p.Pro485Arg) | |
| 3 | g.130997650C>T | CA354537073 | ATP2C1 | c.2288C>T (p.Pro763Leu) c.2273C>T (p.Pro758Leu) c.2149C>T c.2240C>T (p.Pro747Leu) c.2390C>T (p.Pro797Leu) c.187C>T (n.187C>T) c.841C>T n.2458C>T c.2219C>T (p.Pro740Leu) c.1454C>T (p.Pro485Leu) | gnomAD v4 |
| 3 | g.130997651T>A | CA435662343 | ATP2C1 | c.2289T>A (p.Pro763=) c.2274T>A (p.Pro758=) c.2150T>A c.2241T>A (p.Pro747=) c.2391T>A (p.Pro797=) c.188T>A (n.188T>A) c.842T>A n.2459T>A c.2220T>A (p.Pro740=) c.1455T>A (p.Pro485=) | |
| 3 | g.130997651T>C | CA435662344 | ATP2C1 | c.2289T>C (p.Pro763=) c.2274T>C (p.Pro758=) c.2150T>C c.2241T>C (p.Pro747=) c.2391T>C (p.Pro797=) c.188T>C (n.188T>C) c.842T>C n.2459T>C c.2220T>C (p.Pro740=) c.1455T>C (p.Pro485=) | |
| 3 | g.130997651T>G | CA435662345 | ATP2C1 | c.2289T>G (p.Pro763=) c.2274T>G (p.Pro758=) c.2150T>G c.2241T>G (p.Pro747=) c.2391T>G (p.Pro797=) c.188T>G (n.188T>G) c.842T>G n.2459T>G c.2220T>G (p.Pro740=) c.1455T>G (p.Pro485=) | |
| 3 | g.130997652C>A | CA354537074 | ATP2C1 | c.2290C>A (p.Arg764Ser) c.2275C>A (p.Arg759Ser) c.2151C>A c.2242C>A (p.Arg748Ser) c.2392C>A (p.Arg798Ser) c.189C>A (n.189C>A) c.843C>A n.2460C>A c.2221C>A (p.Arg741Ser) c.1456C>A (p.Arg486Ser) | |
| 3 | g.130997652C= | CA1401883608 | ATP2C1 | c.2290C= (p.Arg764=) c.2275C= (p.Arg759=) c.2151C= c.2242C= (p.Arg748=) c.2392C= (p.Arg798=) c.189C= (n.189C=) c.843C= n.2460C= c.2221C= (p.Arg741=) c.1456C= (p.Arg486=) | |
| 3 | g.130997652C>G | CA354537075 | ATP2C1 | c.2290C>G (p.Arg764Gly) c.2275C>G (p.Arg759Gly) c.2151C>G c.2242C>G (p.Arg748Gly) c.2392C>G (p.Arg798Gly) c.189C>G (n.189C>G) c.843C>G n.2460C>G c.2221C>G (p.Arg741Gly) c.1456C>G (p.Arg486Gly) | |
| 3 | g.130997652C>T | CA83504022 | ATP2C1 | c.2290C>T (p.Arg764Cys) c.2275C>T (p.Arg759Cys) c.2151C>T c.2242C>T (p.Arg748Cys) c.2392C>T (p.Arg798Cys) c.189C>T (n.189C>T) c.843C>T n.2460C>T c.2221C>T (p.Arg741Cys) c.1456C>T (p.Arg486Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.130997653G>A | CA354537076 | ATP2C1 | c.2291G>A (p.Arg764His) c.2276G>A (p.Arg759His) c.2152G>A c.2243G>A (p.Arg748His) c.2393G>A (p.Arg798His) c.190G>A (n.190G>A) c.844G>A n.2461G>A c.2222G>A (p.Arg741His) c.1457G>A (p.Arg486His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.130997653G>C | CA354537077 | ATP2C1 | c.2291G>C (p.Arg764Pro) c.2276G>C (p.Arg759Pro) c.2152G>C c.2243G>C (p.Arg748Pro) c.2393G>C (p.Arg798Pro) c.190G>C (n.190G>C) c.844G>C n.2461G>C c.2222G>C (p.Arg741Pro) c.1457G>C (p.Arg486Pro) | |
| 3 | g.130997653G= | CA1401883614 | ATP2C1 | c.2291G= (p.Arg764=) c.2276G= (p.Arg759=) c.2152G= c.2243G= (p.Arg748=) c.2393G= (p.Arg798=) c.190G= (n.190G=) c.844G= n.2461G= c.2222G= (p.Arg741=) c.1457G= (p.Arg486=) | |
| 3 | g.130997653G>T | CA354537078 | ATP2C1 | c.2291G>T (p.Arg764Leu) c.2276G>T (p.Arg759Leu) c.2152G>T c.2243G>T (p.Arg748Leu) c.2393G>T (p.Arg798Leu) c.190G>T (n.190G>T) c.844G>T n.2461G>T c.2222G>T (p.Arg741Leu) c.1457G>T (p.Arg486Leu) | |
| 3 | g.130997654C>A | CA435662347 | ATP2C1 | c.2292C>A (p.Arg764=) c.2277C>A (p.Arg759=) c.2153C>A c.2244C>A (p.Arg748=) c.2394C>A (p.Arg798=) c.191C>A (n.191C>A) c.845C>A n.2462C>A c.2223C>A (p.Arg741=) c.1458C>A (p.Arg486=) | |
| 3 | g.130997654C>G | CA435662348 | ATP2C1 | c.2292C>G (p.Arg764=) c.2277C>G (p.Arg759=) c.2153C>G c.2244C>G (p.Arg748=) c.2394C>G (p.Arg798=) c.191C>G (n.191C>G) c.845C>G n.2462C>G c.2223C>G (p.Arg741=) c.1458C>G (p.Arg486=) | |
| 3 | g.130997654C>T | CA435662349 | ATP2C1 | c.2292C>T (p.Arg764=) c.2277C>T (p.Arg759=) c.2153C>T c.2244C>T (p.Arg748=) c.2394C>T (p.Arg798=) c.191C>T (n.191C>T) c.845C>T n.2462C>T c.2223C>T (p.Arg741=) c.1458C>T (p.Arg486=) | |
| 3 | g.130997655A>C | CA354537079 | ATP2C1 | c.2293A>C (p.Asn765His) c.2278A>C (p.Asn760His) c.2154A>C c.2245A>C (p.Asn749His) c.2395A>C (p.Asn799His) c.192A>C (n.192A>C) c.846A>C n.2463A>C c.2224A>C (p.Asn742His) c.1459A>C (p.Asn487His) | |
| 3 | g.130997655A>G | CA354537080 | ATP2C1 | c.2293A>G (p.Asn765Asp) c.2278A>G (p.Asn760Asp) c.2154A>G c.2245A>G (p.Asn749Asp) c.2395A>G (p.Asn799Asp) c.192A>G (n.192A>G) c.846A>G n.2463A>G c.2224A>G (p.Asn742Asp) c.1459A>G (p.Asn487Asp) | |
| 3 | g.130997655A>T | CA354537081 | ATP2C1 | c.2293A>T (p.Asn765Tyr) c.2278A>T (p.Asn760Tyr) c.2154A>T c.2245A>T (p.Asn749Tyr) c.2395A>T (p.Asn799Tyr) c.192A>T (n.192A>T) c.846A>T n.2463A>T c.2224A>T (p.Asn742Tyr) c.1459A>T (p.Asn487Tyr) | |
| 3 | g.130997656A>C | CA354537082 | ATP2C1 | c.2294A>C (p.Asn765Thr) c.2279A>C (p.Asn760Thr) c.2155A>C c.2246A>C (p.Asn749Thr) c.2396A>C (p.Asn799Thr) c.193A>C (n.193A>C) c.847A>C n.2464A>C c.2225A>C (p.Asn742Thr) c.1460A>C (p.Asn487Thr) | |
| 3 | g.130997656A>G | CA354537084 | ATP2C1 | c.2294A>G (p.Asn765Ser) c.2279A>G (p.Asn760Ser) c.2155A>G c.2246A>G (p.Asn749Ser) c.2396A>G (p.Asn799Ser) c.193A>G (n.193A>G) c.847A>G n.2464A>G c.2225A>G (p.Asn742Ser) c.1460A>G (p.Asn487Ser) | |
| 3 | g.130997656A>T | CA354537083 | ATP2C1 | c.2294A>T (p.Asn765Ile) c.2279A>T (p.Asn760Ile) c.2155A>T c.2246A>T (p.Asn749Ile) c.2396A>T (p.Asn799Ile) c.193A>T (n.193A>T) c.847A>T n.2464A>T c.2225A>T (p.Asn742Ile) c.1460A>T (p.Asn487Ile) | |
| 3 | g.130997657C>A | CA354537085 | ATP2C1 | c.2295C>A (p.Asn765Lys) c.2280C>A (p.Asn760Lys) c.2156C>A c.2247C>A (p.Asn749Lys) c.2397C>A (p.Asn799Lys) c.194C>A (n.194C>A) c.848C>A n.2465C>A c.2226C>A (p.Asn742Lys) c.1461C>A (p.Asn487Lys) | |
| 3 | g.130997657C>G | CA354537086 | ATP2C1 | c.2295C>G (p.Asn765Lys) c.2280C>G (p.Asn760Lys) c.2156C>G c.2247C>G (p.Asn749Lys) c.2397C>G (p.Asn799Lys) c.194C>G (n.194C>G) c.848C>G n.2465C>G c.2226C>G (p.Asn742Lys) c.1461C>G (p.Asn487Lys) | gnomAD v4 |
| 3 | g.130997657C>T | CA435662353 | ATP2C1 | c.2295C>T (p.Asn765=) c.2280C>T (p.Asn760=) c.2156C>T c.2247C>T (p.Asn749=) c.2397C>T (p.Asn799=) c.194C>T (n.194C>T) c.848C>T n.2465C>T c.2226C>T (p.Asn742=) c.1461C>T (p.Asn487=) | |
| 3 | g.130997658T>A | CA354537087 | ATP2C1 | c.2296T>A (p.Trp766Arg) c.2281T>A (p.Trp761Arg) c.2157T>A c.2248T>A (p.Trp750Arg) c.2398T>A (p.Trp800Arg) c.195T>A (n.195T>A) c.849T>A n.2466T>A c.2227T>A (p.Trp743Arg) c.1462T>A (p.Trp488Arg) | |
| 3 | g.130997658T>C | CA83504025 | ATP2C1 | c.2296T>C (p.Trp766Arg) c.2281T>C (p.Trp761Arg) c.2157T>C c.2248T>C (p.Trp750Arg) c.2398T>C (p.Trp800Arg) c.195T>C (n.195T>C) c.849T>C n.2466T>C c.2227T>C (p.Trp743Arg) c.1462T>C (p.Trp488Arg) | dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.130997658T>G | CA354537088 | ATP2C1 | c.2296T>G (p.Trp766Gly) c.2281T>G (p.Trp761Gly) c.2157T>G c.2248T>G (p.Trp750Gly) c.2398T>G (p.Trp800Gly) c.195T>G (n.195T>G) c.849T>G n.2466T>G c.2227T>G (p.Trp743Gly) c.1462T>G (p.Trp488Gly) | |
| 3 | g.130997658T= | CA1401883619 | ATP2C1 | c.2296T= (p.Trp766=) c.2281T= (p.Trp761=) c.2157T= c.2248T= (p.Trp750=) c.2398T= (p.Trp800=) c.195T= (n.195T=) c.849T= n.2466T= c.2227T= (p.Trp743=) c.1462T= (p.Trp488=) | |
| 3 | g.130997659G>A | CA354537089 | ATP2C1 | c.2297G>A (p.Trp766Ter) c.2282G>A (p.Trp761Ter) c.2158G>A c.2249G>A (p.Trp750Ter) c.2399G>A (p.Trp800Ter) c.196G>A (n.196G>A) c.850G>A n.2467G>A c.2228G>A (p.Trp743Ter) c.1463G>A (p.Trp488Ter) | |
| 3 | g.130997659G>C | CA354537090 | ATP2C1 | c.2297G>C (p.Trp766Ser) c.2282G>C (p.Trp761Ser) c.2158G>C c.2249G>C (p.Trp750Ser) c.2399G>C (p.Trp800Ser) c.196G>C (n.196G>C) c.850G>C n.2467G>C c.2228G>C (p.Trp743Ser) c.1463G>C (p.Trp488Ser) | |
| 3 | g.130997659G>T | CA354537091 | ATP2C1 | c.2297G>T (p.Trp766Leu) c.2282G>T (p.Trp761Leu) c.2158G>T c.2249G>T (p.Trp750Leu) c.2399G>T (p.Trp800Leu) c.196G>T (n.196G>T) c.850G>T n.2467G>T c.2228G>T (p.Trp743Leu) c.1463G>T (p.Trp488Leu) | |
| 3 | g.130997660G>A | CA354537092 | ATP2C1 | c.2298G>A (p.Trp766Ter) c.2283G>A (p.Trp761Ter) c.2159G>A c.2250G>A (p.Trp750Ter) c.2400G>A (p.Trp800Ter) c.197G>A (n.197G>A) c.851G>A n.2468G>A c.2229G>A (p.Trp743Ter) c.1464G>A (p.Trp488Ter) | |
| 3 | g.130997660G>C | CA354537093 | ATP2C1 | c.2298G>C (p.Trp766Cys) c.2283G>C (p.Trp761Cys) c.2159G>C c.2250G>C (p.Trp750Cys) c.2400G>C (p.Trp800Cys) c.197G>C (n.197G>C) c.851G>C n.2468G>C c.2229G>C (p.Trp743Cys) c.1464G>C (p.Trp488Cys) | |
| 3 | g.130997660G>T | CA354537094 | ATP2C1 | c.2298G>T (p.Trp766Cys) c.2283G>T (p.Trp761Cys) c.2159G>T c.2250G>T (p.Trp750Cys) c.2400G>T (p.Trp800Cys) c.197G>T (n.197G>T) c.851G>T n.2468G>T c.2229G>T (p.Trp743Cys) c.1464G>T (p.Trp488Cys) | |
| 3 | g.130997661A>C | CA354537095 | ATP2C1 | c.2299A>C (p.Lys767Gln) c.2284A>C (p.Lys762Gln) c.2160A>C c.2251A>C (p.Lys751Gln) c.2401A>C (p.Lys801Gln) c.198A>C (n.198A>C) c.852A>C n.2469A>C c.2230A>C (p.Lys744Gln) c.1465A>C (p.Lys489Gln) | |
| 3 | g.130997661A>G | CA354537096 | ATP2C1 | c.2299A>G (p.Lys767Glu) c.2284A>G (p.Lys762Glu) c.2160A>G c.2251A>G (p.Lys751Glu) c.2401A>G (p.Lys801Glu) c.198A>G (n.198A>G) c.852A>G n.2469A>G c.2230A>G (p.Lys744Glu) c.1465A>G (p.Lys489Glu) | |
| 3 | g.130997661A>T | CA354537097 | ATP2C1 | c.2299A>T (p.Lys767Ter) c.2284A>T (p.Lys762Ter) c.2160A>T c.2251A>T (p.Lys751Ter) c.2401A>T (p.Lys801Ter) c.198A>T (n.198A>T) c.852A>T n.2469A>T c.2230A>T (p.Lys744Ter) c.1465A>T (p.Lys489Ter) | |
| 3 | g.130997662A>C | CA354537100 | ATP2C1 | c.2300A>C (p.Lys767Thr) c.2285A>C (p.Lys762Thr) c.2161A>C c.2252A>C (p.Lys751Thr) c.2402A>C (p.Lys801Thr) c.199A>C (n.199A>C) c.853A>C n.2470A>C c.2231A>C (p.Lys744Thr) c.1466A>C (p.Lys489Thr) | |
| 3 | g.130997662A>G | CA354537098 | ATP2C1 | c.2300A>G (p.Lys767Arg) c.2285A>G (p.Lys762Arg) c.2161A>G c.2252A>G (p.Lys751Arg) c.2402A>G (p.Lys801Arg) c.199A>G (n.199A>G) c.853A>G n.2470A>G c.2231A>G (p.Lys744Arg) c.1466A>G (p.Lys489Arg) | |
| 3 | g.130997662A>T | CA354537099 | ATP2C1 | c.2300A>T (p.Lys767Ile) c.2285A>T (p.Lys762Ile) c.2161A>T c.2252A>T (p.Lys751Ile) c.2402A>T (p.Lys801Ile) c.199A>T (n.199A>T) c.853A>T n.2470A>T c.2231A>T (p.Lys744Ile) c.1466A>T (p.Lys489Ile) | |
| 3 | g.130997663A= | CA1401883623 | ATP2C1 | c.2301A= (p.Lys767=) c.2286A= (p.Lys762=) c.2162A= c.2253A= (p.Lys751=) c.2403A= (p.Lys801=) c.200A= (n.200A=) c.854A= n.2471A= c.2232A= (p.Lys744=) c.1467A= (p.Lys489=) | |
| 3 | g.130997663A>C | CA354537101 | ATP2C1 | c.2301A>C (p.Lys767Asn) c.2286A>C (p.Lys762Asn) c.2162A>C c.2253A>C (p.Lys751Asn) c.2403A>C (p.Lys801Asn) c.200A>C (n.200A>C) c.854A>C n.2471A>C c.2232A>C (p.Lys744Asn) c.1467A>C (p.Lys489Asn) | |
| 3 | g.130997663A>G | CA2615361 | ATP2C1 | c.2301A>G (p.Lys767=) c.2286A>G (p.Lys762=) c.2162A>G c.2253A>G (p.Lys751=) c.2403A>G (p.Lys801=) c.200A>G (n.200A>G) c.854A>G n.2471A>G c.2232A>G (p.Lys744=) c.1467A>G (p.Lys489=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.130997663A>T | CA354537102 | ATP2C1 | c.2301A>T (p.Lys767Asn) c.2286A>T (p.Lys762Asn) c.2162A>T c.2253A>T (p.Lys751Asn) c.2403A>T (p.Lys801Asn) c.200A>T (n.200A>T) c.854A>T n.2471A>T c.2232A>T (p.Lys744Asn) c.1467A>T (p.Lys489Asn) | |
| 3 | g.130997664G>A | CA354537103 | ATP2C1 | c.2302G>A (p.Asp768Asn) c.2287G>A (p.Asp763Asn) c.2163G>A c.2254G>A (p.Asp752Asn) c.2404G>A (p.Asp802Asn) c.201G>A (n.201G>A) c.855G>A n.2472G>A c.2233G>A (p.Asp745Asn) c.1468G>A (p.Asp490Asn) | |
| 3 | g.130997664G>C | CA354537104 | ATP2C1 | c.2302G>C (p.Asp768His) c.2287G>C (p.Asp763His) c.2163G>C c.2254G>C (p.Asp752His) c.2404G>C (p.Asp802His) c.201G>C (n.201G>C) c.855G>C n.2472G>C c.2233G>C (p.Asp745His) c.1468G>C (p.Asp490His) | |
| 3 | g.130997664G>T | CA354537105 | ATP2C1 | c.2302G>T (p.Asp768Tyr) c.2287G>T (p.Asp763Tyr) c.2163G>T c.2254G>T (p.Asp752Tyr) c.2404G>T (p.Asp802Tyr) c.201G>T (n.201G>T) c.855G>T n.2472G>T c.2233G>T (p.Asp745Tyr) c.1468G>T (p.Asp490Tyr) | |
| 3 | g.130997665A>C | CA354537106 | ATP2C1 | c.2303A>C (p.Asp768Ala) c.2288A>C (p.Asp763Ala) c.2164A>C c.2255A>C (p.Asp752Ala) c.2405A>C (p.Asp802Ala) c.202A>C (n.202A>C) c.856A>C n.2473A>C c.2234A>C (p.Asp745Ala) c.1469A>C (p.Asp490Ala) | |
| 3 | g.130997665A>G | CA354537107 | ATP2C1 | c.2303A>G (p.Asp768Gly) c.2288A>G (p.Asp763Gly) c.2164A>G c.2255A>G (p.Asp752Gly) c.2405A>G (p.Asp802Gly) c.202A>G (n.202A>G) c.856A>G n.2473A>G c.2234A>G (p.Asp745Gly) c.1469A>G (p.Asp490Gly) | |
| 3 | g.130997665A>T | CA354537108 | ATP2C1 | c.2303A>T (p.Asp768Val) c.2288A>T (p.Asp763Val) c.2164A>T c.2255A>T (p.Asp752Val) c.2405A>T (p.Asp802Val) c.202A>T (n.202A>T) c.856A>T n.2473A>T c.2234A>T (p.Asp745Val) c.1469A>T (p.Asp490Val) | |
| 3 | g.130997666_130997667del | CA2586965908 | ATP2C1 | c.2304_2305del (p.Asp768GlufsTer5) c.2289_2290del (p.Asp763GlufsTer5) c.2165_2166del c.2256_2257del (p.Asp752GlufsTer5) c.2406_2407del (p.Asp802GlufsTer5) c.203_204del (n.203_204del) c.857_858del n.2474_2475del c.2235_2236del (p.Asp745GlufsTer5) c.1470_1471del (p.Asp490GlufsTer5) | |
| 3 | g.130997666C>A | CA354537109 | ATP2C1 | c.2304C>A (p.Asp768Glu) c.2289C>A (p.Asp763Glu) c.2165C>A c.2256C>A (p.Asp752Glu) c.2406C>A (p.Asp802Glu) c.203C>A (n.203C>A) c.857C>A n.2474C>A c.2235C>A (p.Asp745Glu) c.1470C>A (p.Asp490Glu) | |
| 3 | g.130997666C= | CA1401883625 | ATP2C1 | c.2304C= (p.Asp768=) c.2289C= (p.Asp763=) c.2165C= c.2256C= (p.Asp752=) c.2406C= (p.Asp802=) c.203C= (n.203C=) c.857C= n.2474C= c.2235C= (p.Asp745=) c.1470C= (p.Asp490=) | |
| 3 | g.130997666C>G | CA354537110 | ATP2C1 | c.2304C>G (p.Asp768Glu) c.2289C>G (p.Asp763Glu) c.2165C>G c.2256C>G (p.Asp752Glu) c.2406C>G (p.Asp802Glu) c.203C>G (n.203C>G) c.857C>G n.2474C>G c.2235C>G (p.Asp745Glu) c.1470C>G (p.Asp490Glu) | |
| 3 | g.130997666C>T | CA435662359 | ATP2C1 | c.2304C>T (p.Asp768=) c.2289C>T (p.Asp763=) c.2165C>T c.2256C>T (p.Asp752=) c.2406C>T (p.Asp802=) c.203C>T (n.203C>T) c.857C>T n.2474C>T c.2235C>T (p.Asp745=) c.1470C>T (p.Asp490=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.130997667A>C | CA354537112 | ATP2C1 | c.2305A>C (p.Ser769Arg) c.2290A>C (p.Ser764Arg) c.2166A>C c.2257A>C (p.Ser753Arg) c.2407A>C (p.Ser803Arg) c.204A>C (n.204A>C) c.858A>C n.2475A>C c.2236A>C (p.Ser746Arg) c.1471A>C (p.Ser491Arg) | |
| 3 | g.130997667A>G | CA354537113 | ATP2C1 | c.2305A>G (p.Ser769Gly) c.2290A>G (p.Ser764Gly) c.2166A>G c.2257A>G (p.Ser753Gly) c.2407A>G (p.Ser803Gly) c.204A>G (n.204A>G) c.858A>G n.2475A>G c.2236A>G (p.Ser746Gly) c.1471A>G (p.Ser491Gly) | gnomAD v4 |
| 3 | g.130997667A>T | CA354537111 | ATP2C1 | c.2305A>T (p.Ser769Cys) c.2290A>T (p.Ser764Cys) c.2166A>T c.2257A>T (p.Ser753Cys) c.2407A>T (p.Ser803Cys) c.204A>T (n.204A>T) c.858A>T n.2475A>T c.2236A>T (p.Ser746Cys) c.1471A>T (p.Ser491Cys) | |
| 3 | g.130997668G>A | CA354537114 | ATP2C1 | c.2306G>A (p.Ser769Asn) c.2291G>A (p.Ser764Asn) c.2167G>A c.2258G>A (p.Ser753Asn) c.2408G>A (p.Ser803Asn) c.205G>A (n.205G>A) c.859G>A n.2476G>A c.2237G>A (p.Ser746Asn) c.1472G>A (p.Ser491Asn) | gnomAD v4 |
| 3 | g.130997668G>C | CA354537115 | ATP2C1 | c.2306G>C (p.Ser769Thr) c.2291G>C (p.Ser764Thr) c.2167G>C c.2258G>C (p.Ser753Thr) c.2408G>C (p.Ser803Thr) c.205G>C (n.205G>C) c.859G>C n.2476G>C c.2237G>C (p.Ser746Thr) c.1472G>C (p.Ser491Thr) | |
| 3 | g.130997668G>T | CA354537116 | ATP2C1 | c.2306G>T (p.Ser769Ile) c.2291G>T (p.Ser764Ile) c.2167G>T c.2258G>T (p.Ser753Ile) c.2408G>T (p.Ser803Ile) c.205G>T (n.205G>T) c.859G>T n.2476G>T c.2237G>T (p.Ser746Ile) c.1472G>T (p.Ser491Ile) | |
| 3 | g.130997669C>A | CA354537117 | ATP2C1 | c.2307C>A (p.Ser769Arg) c.2292C>A (p.Ser764Arg) c.2168C>A c.2259C>A (p.Ser753Arg) c.2409C>A (p.Ser803Arg) c.206C>A (n.206C>A) c.860C>A n.2477C>A c.2238C>A (p.Ser746Arg) c.1473C>A (p.Ser491Arg) | |
| 3 | g.130997669C= | CA1401883628 | ATP2C1 | c.2307C= (p.Ser769=) c.2292C= (p.Ser764=) c.2168C= c.2259C= (p.Ser753=) c.2409C= (p.Ser803=) c.206C= (n.206C=) c.860C= n.2477C= c.2238C= (p.Ser746=) c.1473C= (p.Ser491=) | |
| 3 | g.130997669C>G | CA354537118 | ATP2C1 | c.2307C>G (p.Ser769Arg) c.2292C>G (p.Ser764Arg) c.2168C>G c.2259C>G (p.Ser753Arg) c.2409C>G (p.Ser803Arg) c.206C>G (n.206C>G) c.860C>G n.2477C>G c.2238C>G (p.Ser746Arg) c.1473C>G (p.Ser491Arg) | dbSNP gnomAD v4 |
| 3 | g.130997669C>T | CA435662362 | ATP2C1 | c.2307C>T (p.Ser769=) c.2292C>T (p.Ser764=) c.2168C>T c.2259C>T (p.Ser753=) c.2409C>T (p.Ser803=) c.206C>T (n.206C>T) c.860C>T n.2477C>T c.2238C>T (p.Ser746=) c.1473C>T (p.Ser491=) | |
| 3 | g.130997670A>C | CA354537121 | ATP2C1 | c.2308A>C (p.Ile770Leu) c.2293A>C (p.Ile765Leu) c.2169A>C c.2260A>C (p.Ile754Leu) c.2410A>C (p.Ile804Leu) c.207A>C (n.207A>C) c.861A>C n.2478A>C c.2239A>C (p.Ile747Leu) c.1474A>C (p.Ile492Leu) | gnomAD v4 |
| 3 | g.130997670A>G | CA354537120 | ATP2C1 | c.2308A>G (p.Ile770Val) c.2293A>G (p.Ile765Val) c.2169A>G c.2260A>G (p.Ile754Val) c.2410A>G (p.Ile804Val) c.207A>G (n.207A>G) c.861A>G n.2478A>G c.2239A>G (p.Ile747Val) c.1474A>G (p.Ile492Val) | |
| 3 | g.130997670A>T | CA354537119 | ATP2C1 | c.2308A>T (p.Ile770Phe) c.2293A>T (p.Ile765Phe) c.2169A>T c.2260A>T (p.Ile754Phe) c.2410A>T (p.Ile804Phe) c.207A>T (n.207A>T) c.861A>T n.2478A>T c.2239A>T (p.Ile747Phe) c.1474A>T (p.Ile492Phe) | |
| 3 | g.130997671T>A | CA354537122 | ATP2C1 | c.2309T>A (p.Ile770Asn) c.2294T>A (p.Ile765Asn) c.2170T>A c.2261T>A (p.Ile754Asn) c.2411T>A (p.Ile804Asn) c.208T>A (n.208T>A) c.862T>A n.2479T>A c.2240T>A (p.Ile747Asn) c.1475T>A (p.Ile492Asn) | |
| 3 | g.130997671T>C | CA354537123 | ATP2C1 | c.2309T>C (p.Ile770Thr) c.2294T>C (p.Ile765Thr) c.2170T>C c.2261T>C (p.Ile754Thr) c.2411T>C (p.Ile804Thr) c.208T>C (n.208T>C) c.862T>C n.2479T>C c.2240T>C (p.Ile747Thr) c.1475T>C (p.Ile492Thr) | |
| 3 | g.130997671T>G | CA354537124 | ATP2C1 | c.2309T>G (p.Ile770Ser) c.2294T>G (p.Ile765Ser) c.2170T>G c.2261T>G (p.Ile754Ser) c.2411T>G (p.Ile804Ser) c.208T>G (n.208T>G) c.862T>G n.2479T>G c.2240T>G (p.Ile747Ser) c.1475T>G (p.Ile492Ser) | |
| 3 | g.130997672T>A | CA435662364 | ATP2C1 | c.2310T>A (p.Ile770=) c.2295T>A (p.Ile765=) c.2171T>A c.2262T>A (p.Ile754=) c.2412T>A (p.Ile804=) c.209T>A (n.209T>A) c.863T>A n.2480T>A c.2241T>A (p.Ile747=) c.1476T>A (p.Ile492=) | |
| 3 | g.130997672T>C | CA435662365 | ATP2C1 | c.2310T>C (p.Ile770=) c.2295T>C (p.Ile765=) c.2171T>C c.2262T>C (p.Ile754=) c.2412T>C (p.Ile804=) c.209T>C (n.209T>C) c.863T>C n.2480T>C c.2241T>C (p.Ile747=) c.1476T>C (p.Ile492=) | |
| 3 | g.130997672T>G | CA354537125 | ATP2C1 | c.2310T>G (p.Ile770Met) c.2295T>G (p.Ile765Met) c.2171T>G c.2262T>G (p.Ile754Met) c.2412T>G (p.Ile804Met) c.209T>G (n.209T>G) c.863T>G n.2480T>G c.2241T>G (p.Ile747Met) c.1476T>G (p.Ile492Met) | |
| 3 | g.130997673T>A | CA354537126 | ATP2C1 | c.2311T>A (p.Leu771Met) c.2296T>A (p.Leu766Met) c.2172T>A c.2263T>A (p.Leu755Met) c.2413T>A (p.Leu805Met) c.210T>A (n.210T>A) c.864T>A n.2481T>A c.2242T>A (p.Leu748Met) c.1477T>A (p.Leu493Met) | |
| 3 | g.130997673T>C | CA435662366 | ATP2C1 | c.2311T>C (p.Leu771=) c.2296T>C (p.Leu766=) c.2172T>C c.2263T>C (p.Leu755=) c.2413T>C (p.Leu805=) c.210T>C (n.210T>C) c.864T>C n.2481T>C c.2242T>C (p.Leu748=) c.1477T>C (p.Leu493=) | |
| 3 | g.130997673T>G | CA354537127 | ATP2C1 | c.2311T>G (p.Leu771Val) c.2296T>G (p.Leu766Val) c.2172T>G c.2263T>G (p.Leu755Val) c.2413T>G (p.Leu805Val) c.210T>G (n.210T>G) c.864T>G n.2481T>G c.2242T>G (p.Leu748Val) c.1477T>G (p.Leu493Val) | |
| 3 | g.130997674T>A | CA354537128 | ATP2C1 | c.2312T>A (p.Leu771Ter) c.2297T>A (p.Leu766Ter) c.2173T>A c.2264T>A (p.Leu755Ter) c.2414T>A (p.Leu805Ter) c.211T>A (n.211T>A) c.865T>A n.2482T>A c.2243T>A (p.Leu748Ter) c.1478T>A (p.Leu493Ter) | |
| 3 | g.130997674T>C | CA354537130 | ATP2C1 | c.2312T>C (p.Leu771Ser) c.2297T>C (p.Leu766Ser) c.2173T>C c.2264T>C (p.Leu755Ser) c.2414T>C (p.Leu805Ser) c.211T>C (n.211T>C) c.865T>C n.2482T>C c.2243T>C (p.Leu748Ser) c.1478T>C (p.Leu493Ser) | |
| 3 | g.130997674T>G | CA354537129 | ATP2C1 | c.2312T>G (p.Leu771Trp) c.2297T>G (p.Leu766Trp) c.2173T>G c.2264T>G (p.Leu755Trp) c.2414T>G (p.Leu805Trp) c.211T>G (n.211T>G) c.865T>G n.2482T>G c.2243T>G (p.Leu748Trp) c.1478T>G (p.Leu493Trp) | |
| 3 | g.130997675G>A | CA83504041 | ATP2C1 | c.2313G>A (p.Leu771=) c.2298G>A (p.Leu766=) c.2174G>A c.2265G>A (p.Leu755=) c.2415G>A (p.Leu805=) c.212G>A (n.212G>A) c.866G>A n.2483G>A c.2244G>A (p.Leu748=) c.1479G>A (p.Leu493=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.130997675G>C | CA354537131 | ATP2C1 | c.2313G>C (p.Leu771Phe) c.2298G>C (p.Leu766Phe) c.2174G>C c.2265G>C (p.Leu755Phe) c.2415G>C (p.Leu805Phe) c.212G>C (n.212G>C) c.866G>C n.2483G>C c.2244G>C (p.Leu748Phe) c.1479G>C (p.Leu493Phe) | gnomAD v4 |
| 3 | g.130997675G= | CA1401883630 | ATP2C1 | c.2313G= (p.Leu771=) c.2298G= (p.Leu766=) c.2174G= c.2265G= (p.Leu755=) c.2415G= (p.Leu805=) c.212G= (n.212G=) c.866G= n.2483G= c.2244G= (p.Leu748=) c.1479G= (p.Leu493=) | |
| 3 | g.130997675G>T | CA354537132 | ATP2C1 | c.2313G>T (p.Leu771Phe) c.2298G>T (p.Leu766Phe) c.2174G>T c.2265G>T (p.Leu755Phe) c.2415G>T (p.Leu805Phe) c.212G>T (n.212G>T) c.866G>T n.2483G>T c.2244G>T (p.Leu748Phe) c.1479G>T (p.Leu493Phe) | |
| 3 | g.130997676A>C | CA354537133 | ATP2C1 | c.2314A>C (p.Thr772Pro) c.2299A>C (p.Thr767Pro) c.2175A>C c.2266A>C (p.Thr756Pro) c.2416A>C (p.Thr806Pro) c.213A>C (n.213A>C) c.867A>C n.2484A>C c.2245A>C (p.Thr749Pro) c.1480A>C (p.Thr494Pro) | |
| 3 | g.130997676A>G | CA354537134 | ATP2C1 | c.2314A>G (p.Thr772Ala) c.2299A>G (p.Thr767Ala) c.2175A>G c.2266A>G (p.Thr756Ala) c.2416A>G (p.Thr806Ala) c.213A>G (n.213A>G) c.867A>G n.2484A>G c.2245A>G (p.Thr749Ala) c.1480A>G (p.Thr494Ala) | |
| 3 | g.130997676A>T | CA354537135 | ATP2C1 | c.2314A>T (p.Thr772Ser) c.2299A>T (p.Thr767Ser) c.2175A>T c.2266A>T (p.Thr756Ser) c.2416A>T (p.Thr806Ser) c.213A>T (n.213A>T) c.867A>T n.2484A>T c.2245A>T (p.Thr749Ser) c.1480A>T (p.Thr494Ser) | |
| 3 | g.130997677C>A | CA354537136 | ATP2C1 | c.2315C>A (p.Thr772Asn) c.2300C>A (p.Thr767Asn) c.2176C>A c.2267C>A (p.Thr756Asn) c.2417C>A (p.Thr806Asn) c.214C>A (n.214C>A) c.868C>A n.2485C>A c.2246C>A (p.Thr749Asn) c.1481C>A (p.Thr494Asn) | |
| 3 | g.130997677C= | CA1401883632 | ATP2C1 | c.2315C= (p.Thr772=) c.2300C= (p.Thr767=) c.2176C= c.2267C= (p.Thr756=) c.2417C= (p.Thr806=) c.214C= (n.214C=) c.868C= n.2485C= c.2246C= (p.Thr749=) c.1481C= (p.Thr494=) | |
| 3 | g.130997677C>G | CA354537137 | ATP2C1 | c.2315C>G (p.Thr772Ser) c.2300C>G (p.Thr767Ser) c.2176C>G c.2267C>G (p.Thr756Ser) c.2417C>G (p.Thr806Ser) c.214C>G (n.214C>G) c.868C>G n.2485C>G c.2246C>G (p.Thr749Ser) c.1481C>G (p.Thr494Ser) | |
| 3 | g.130997677C>T | CA354537138 | ATP2C1 | c.2315C>T (p.Thr772Ile) c.2300C>T (p.Thr767Ile) c.2176C>T c.2267C>T (p.Thr756Ile) c.2417C>T (p.Thr806Ile) c.214C>T (n.214C>T) c.868C>T n.2485C>T c.2246C>T (p.Thr749Ile) c.1481C>T (p.Thr494Ile) | dbSNP |
| 3 | g.130997678T>A | CA435662370 | ATP2C1 | c.2316T>A (p.Thr772=) c.2301T>A (p.Thr767=) c.2177T>A c.2268T>A (p.Thr756=) c.2418T>A (p.Thr806=) c.215T>A (n.215T>A) c.869T>A n.2486T>A c.2247T>A (p.Thr749=) c.1482T>A (p.Thr494=) | |
| 3 | g.130997678T>C | CA435662372 | ATP2C1 | c.2316T>C (p.Thr772=) c.2301T>C (p.Thr767=) c.2177T>C c.2268T>C (p.Thr756=) c.2418T>C (p.Thr806=) c.215T>C (n.215T>C) c.869T>C n.2486T>C c.2247T>C (p.Thr749=) c.1482T>C (p.Thr494=) | |
| 3 | g.130997678T>G | CA435662373 | ATP2C1 | c.2316T>G (p.Thr772=) c.2301T>G (p.Thr767=) c.2177T>G c.2268T>G (p.Thr756=) c.2418T>G (p.Thr806=) c.215T>G (n.215T>G) c.869T>G n.2486T>G c.2247T>G (p.Thr749=) c.1482T>G (p.Thr494=) | |
| 3 | g.130997679A>C | CA354537139 | ATP2C1 | c.2317A>C (p.Lys773Gln) c.2302A>C (p.Lys768Gln) c.2178A>C c.2269A>C (p.Lys757Gln) c.2419A>C (p.Lys807Gln) c.216A>C (n.216A>C) c.870A>C n.2487A>C c.2248A>C (p.Lys750Gln) c.1483A>C (p.Lys495Gln) | |
| 3 | g.130997679A>G | CA354537140 | ATP2C1 | c.2317A>G (p.Lys773Glu) c.2302A>G (p.Lys768Glu) c.2178A>G c.2269A>G (p.Lys757Glu) c.2419A>G (p.Lys807Glu) c.216A>G (n.216A>G) c.870A>G n.2487A>G c.2248A>G (p.Lys750Glu) c.1483A>G (p.Lys495Glu) | |
| 3 | g.130997679A>T | CA354537141 | ATP2C1 | c.2317A>T (p.Lys773Ter) c.2302A>T (p.Lys768Ter) c.2178A>T c.2269A>T (p.Lys757Ter) c.2419A>T (p.Lys807Ter) c.216A>T (n.216A>T) c.870A>T n.2487A>T c.2248A>T (p.Lys750Ter) c.1483A>T (p.Lys495Ter) | |
| 3 | g.130997680A>C | CA354537142 | ATP2C1 | c.2318A>C (p.Lys773Thr) c.2303A>C (p.Lys768Thr) c.2179A>C c.2270A>C (p.Lys757Thr) c.2420A>C (p.Lys807Thr) c.217A>C (n.217A>C) c.871A>C n.2488A>C c.2249A>C (p.Lys750Thr) c.1484A>C (p.Lys495Thr) | |
| 3 | g.130997680A>G | CA354537144 | ATP2C1 | c.2318A>G (p.Lys773Arg) c.2303A>G (p.Lys768Arg) c.2179A>G c.2270A>G (p.Lys757Arg) c.2420A>G (p.Lys807Arg) c.217A>G (n.217A>G) c.871A>G n.2488A>G c.2249A>G (p.Lys750Arg) c.1484A>G (p.Lys495Arg) | |
| 3 | g.130997680A>T | CA354537143 | ATP2C1 | c.2318A>T (p.Lys773Ile) c.2303A>T (p.Lys768Ile) c.2179A>T c.2270A>T (p.Lys757Ile) c.2420A>T (p.Lys807Ile) c.217A>T (n.217A>T) c.871A>T n.2488A>T c.2249A>T (p.Lys750Ile) c.1484A>T (p.Lys495Ile) | |
| 3 | g.130997681A>C | CA354537145 | ATP2C1 | c.2319A>C (p.Lys773Asn) c.2304A>C (p.Lys768Asn) c.2180A>C c.2271A>C (p.Lys757Asn) c.2421A>C (p.Lys807Asn) c.218A>C (n.218A>C) c.872A>C n.2489A>C c.2250A>C (p.Lys750Asn) c.1485A>C (p.Lys495Asn) | |
| 3 | g.130997681A>G | CA435662377 | ATP2C1 | c.2319A>G (p.Lys773=) c.2304A>G (p.Lys768=) c.2180A>G c.2271A>G (p.Lys757=) c.2421A>G (p.Lys807=) c.218A>G (n.218A>G) c.872A>G n.2489A>G c.2250A>G (p.Lys750=) c.1485A>G (p.Lys495=) | |
| 3 | g.130997681A>T | CA354537146 | ATP2C1 | c.2319A>T (p.Lys773Asn) c.2304A>T (p.Lys768Asn) c.2180A>T c.2271A>T (p.Lys757Asn) c.2421A>T (p.Lys807Asn) c.218A>T (n.218A>T) c.872A>T n.2489A>T c.2250A>T (p.Lys750Asn) c.1485A>T (p.Lys495Asn) | |
| 3 | g.130997682A>C | CA354537147 | ATP2C1 | c.2320A>C (p.Asn774His) c.2305A>C (p.Asn769His) c.2181A>C c.2272A>C (p.Asn758His) c.2422A>C (p.Asn808His) c.219A>C (n.219A>C) c.873A>C n.2490A>C c.2251A>C (p.Asn751His) c.1486A>C (p.Asn496His) | |
| 3 | g.130997682A>G | CA354537149 | ATP2C1 | c.2320A>G (p.Asn774Asp) c.2305A>G (p.Asn769Asp) c.2181A>G c.2272A>G (p.Asn758Asp) c.2422A>G (p.Asn808Asp) c.219A>G (n.219A>G) c.873A>G n.2490A>G c.2251A>G (p.Asn751Asp) c.1486A>G (p.Asn496Asp) | |
| 3 | g.130997682A>T | CA354537148 | ATP2C1 | c.2320A>T (p.Asn774Tyr) c.2305A>T (p.Asn769Tyr) c.2181A>T c.2272A>T (p.Asn758Tyr) c.2422A>T (p.Asn808Tyr) c.219A>T (n.219A>T) c.873A>T n.2490A>T c.2251A>T (p.Asn751Tyr) c.1486A>T (p.Asn496Tyr) | |
| 3 | g.130997683A= | CA1401883634 | ATP2C1 | c.2321A= (p.Asn774=) c.2306A= (p.Asn769=) c.2182A= c.2273A= (p.Asn758=) c.2423A= (p.Asn808=) c.220A= (n.220A=) c.874A= n.2491A= c.2252A= (p.Asn751=) c.1487A= (p.Asn496=) | |
| 3 | g.130997683A>C | CA354537150 | ATP2C1 | c.2321A>C (p.Asn774Thr) c.2306A>C (p.Asn769Thr) c.2182A>C c.2273A>C (p.Asn758Thr) c.2423A>C (p.Asn808Thr) c.220A>C (n.220A>C) c.874A>C n.2491A>C c.2252A>C (p.Asn751Thr) c.1487A>C (p.Asn496Thr) | |
| 3 | g.130997683A>G | CA354537151 | ATP2C1 | c.2321A>G (p.Asn774Ser) c.2306A>G (p.Asn769Ser) c.2182A>G c.2273A>G (p.Asn758Ser) c.2423A>G (p.Asn808Ser) c.220A>G (n.220A>G) c.874A>G n.2491A>G c.2252A>G (p.Asn751Ser) c.1487A>G (p.Asn496Ser) | |
| 3 | g.130997683A>T | CA354537152 | ATP2C1 | c.2321A>T (p.Asn774Ile) c.2306A>T (p.Asn769Ile) c.2182A>T c.2273A>T (p.Asn758Ile) c.2423A>T (p.Asn808Ile) c.220A>T (n.220A>T) c.874A>T n.2491A>T c.2252A>T (p.Asn751Ile) c.1487A>T (p.Asn496Ile) | dbSNP |
| 3 | g.130997684C>A | CA354537153 | ATP2C1 | c.2322C>A (p.Asn774Lys) c.2307C>A (p.Asn769Lys) c.2183C>A c.2274C>A (p.Asn758Lys) c.2424C>A (p.Asn808Lys) c.221C>A (n.221C>A) c.875C>A n.2492C>A c.2253C>A (p.Asn751Lys) c.1488C>A (p.Asn496Lys) | |
| 3 | g.130997684C= | CA1401883635 | ATP2C1 | c.2322C= (p.Asn774=) c.2307C= (p.Asn769=) c.2183C= c.2274C= (p.Asn758=) c.2424C= (p.Asn808=) c.221C= (n.221C=) c.875C= n.2492C= c.2253C= (p.Asn751=) c.1488C= (p.Asn496=) | |
| 3 | g.130997684C>G | CA354537154 | ATP2C1 | c.2322C>G (p.Asn774Lys) c.2307C>G (p.Asn769Lys) c.2183C>G c.2274C>G (p.Asn758Lys) c.2424C>G (p.Asn808Lys) c.221C>G (n.221C>G) c.875C>G n.2492C>G c.2253C>G (p.Asn751Lys) c.1488C>G (p.Asn496Lys) | |
| 3 | g.130997684C>T | CA435662379 | ATP2C1 | c.2322C>T (p.Asn774=) c.2307C>T (p.Asn769=) c.2183C>T c.2274C>T (p.Asn758=) c.2424C>T (p.Asn808=) c.221C>T (n.221C>T) c.875C>T n.2492C>T c.2253C>T (p.Asn751=) c.1488C>T (p.Asn496=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.130997685T>A | CA354537155 | ATP2C1 | c.2323T>A (p.Leu775Met) c.2308T>A (p.Leu770Met) c.2184T>A c.2275T>A (p.Leu759Met) c.2425T>A (p.Leu809Met) c.222T>A (n.222T>A) c.876T>A n.2493T>A c.2254T>A (p.Leu752Met) c.1489T>A (p.Leu497Met) | |
| 3 | g.130997685T>C | CA435662380 | ATP2C1 | c.2323T>C (p.Leu775=) c.2308T>C (p.Leu770=) c.2184T>C c.2275T>C (p.Leu759=) c.2425T>C (p.Leu809=) c.222T>C (n.222T>C) c.876T>C n.2493T>C c.2254T>C (p.Leu752=) c.1489T>C (p.Leu497=) | |
| 3 | g.130997685T>G | CA354537156 | ATP2C1 | c.2323T>G (p.Leu775Val) c.2308T>G (p.Leu770Val) c.2184T>G c.2275T>G (p.Leu759Val) c.2425T>G (p.Leu809Val) c.222T>G (n.222T>G) c.876T>G n.2493T>G c.2254T>G (p.Leu752Val) c.1489T>G (p.Leu497Val) | |
| 3 | g.130997685_130997693dup | CA2667684498 | ATP2C1 | c.2323_2331dup (p.Leu777_Lys778insLeuIleLeu) c.2308_2316dup (p.Leu772_Lys773insLeuIleLeu) c.2184_2192dup c.2275_2283dup (p.Leu761_Lys762insLeuIleLeu) c.2425_2433dup (p.Leu811_Lys812insLeuIleLeu) c.222_230dup (n.222_230dup) c.876_884dup n.2493_2501dup c.2254_2262dup (p.Leu754_Lys755insLeuIleLeu) c.1489_1497dup (p.Leu499_Lys500insLeuIleLeu) | gnomAD v4 |
| 3 | g.130997686T>A | CA354537157 | ATP2C1 | c.2324T>A (p.Leu775Ter) c.2309T>A (p.Leu770Ter) c.2185T>A c.2276T>A (p.Leu759Ter) c.2426T>A (p.Leu809Ter) c.223T>A (n.223T>A) c.877T>A n.2494T>A c.2255T>A (p.Leu752Ter) c.1490T>A (p.Leu497Ter) | |
| 3 | g.130997686T>C | CA354537158 | ATP2C1 | c.2324T>C (p.Leu775Ser) c.2309T>C (p.Leu770Ser) c.2185T>C c.2276T>C (p.Leu759Ser) c.2426T>C (p.Leu809Ser) c.223T>C (n.223T>C) c.877T>C n.2494T>C c.2255T>C (p.Leu752Ser) c.1490T>C (p.Leu497Ser) | |
| 3 | g.130997686T>G | CA354537159 | ATP2C1 | c.2324T>G (p.Leu775Trp) c.2309T>G (p.Leu770Trp) c.2185T>G c.2276T>G (p.Leu759Trp) c.2426T>G (p.Leu809Trp) c.223T>G (n.223T>G) c.877T>G n.2494T>G c.2255T>G (p.Leu752Trp) c.1490T>G (p.Leu497Trp) | |
| 3 | g.130997687G>A | CA435662381 | ATP2C1 | c.2325G>A (p.Leu775=) c.2310G>A (p.Leu770=) c.2186G>A c.2277G>A (p.Leu759=) c.2427G>A (p.Leu809=) c.224G>A (n.224G>A) c.878G>A n.2495G>A c.2256G>A (p.Leu752=) c.1491G>A (p.Leu497=) | gnomAD v4 |
| 3 | g.130997687G>C | CA354537160 | ATP2C1 | c.2325G>C (p.Leu775Phe) c.2310G>C (p.Leu770Phe) c.2186G>C c.2277G>C (p.Leu759Phe) c.2427G>C (p.Leu809Phe) c.224G>C (n.224G>C) c.878G>C n.2495G>C c.2256G>C (p.Leu752Phe) c.1491G>C (p.Leu497Phe) | |
| 3 | g.130997687G>T | CA354537161 | ATP2C1 | c.2325G>T (p.Leu775Phe) c.2310G>T (p.Leu770Phe) c.2186G>T c.2277G>T (p.Leu759Phe) c.2427G>T (p.Leu809Phe) c.224G>T (n.224G>T) c.878G>T n.2495G>T c.2256G>T (p.Leu752Phe) c.1491G>T (p.Leu497Phe) | gnomAD v4 |
| 3 | g.130997688A>C | CA354537164 | ATP2C1 | c.2326A>C (p.Ile776Leu) c.2311A>C (p.Ile771Leu) c.2187A>C c.2278A>C (p.Ile760Leu) c.2428A>C (p.Ile810Leu) c.225A>C (n.225A>C) c.879A>C n.2496A>C c.2257A>C (p.Ile753Leu) c.1492A>C (p.Ile498Leu) | |
| 3 | g.130997688A>G | CA354537162 | ATP2C1 | c.2326A>G (p.Ile776Val) c.2311A>G (p.Ile771Val) c.2187A>G c.2278A>G (p.Ile760Val) c.2428A>G (p.Ile810Val) c.225A>G (n.225A>G) c.879A>G n.2496A>G c.2257A>G (p.Ile753Val) c.1492A>G (p.Ile498Val) | |
| 3 | g.130997688A>T | CA354537163 | ATP2C1 | c.2326A>T (p.Ile776Leu) c.2311A>T (p.Ile771Leu) c.2187A>T c.2278A>T (p.Ile760Leu) c.2428A>T (p.Ile810Leu) c.225A>T (n.225A>T) c.879A>T n.2496A>T c.2257A>T (p.Ile753Leu) c.1492A>T (p.Ile498Leu) | |
| 3 | g.130997689T>A | CA354537165 | ATP2C1 | c.2327T>A (p.Ile776Lys) c.2312T>A (p.Ile771Lys) c.2188T>A c.2279T>A (p.Ile760Lys) c.2429T>A (p.Ile810Lys) c.226T>A (n.226T>A) c.880T>A n.2497T>A c.2258T>A (p.Ile753Lys) c.1493T>A (p.Ile498Lys) | |
| 3 | g.130997689T>C | CA354537166 | ATP2C1 | c.2327T>C (p.Ile776Thr) c.2312T>C (p.Ile771Thr) c.2188T>C c.2279T>C (p.Ile760Thr) c.2429T>C (p.Ile810Thr) c.226T>C (n.226T>C) c.880T>C n.2497T>C c.2258T>C (p.Ile753Thr) c.1493T>C (p.Ile498Thr) | |
| 3 | g.130997689T>G | CA354537167 | ATP2C1 | c.2327T>G (p.Ile776Arg) c.2312T>G (p.Ile771Arg) c.2188T>G c.2279T>G (p.Ile760Arg) c.2429T>G (p.Ile810Arg) c.226T>G (n.226T>G) c.880T>G n.2497T>G c.2258T>G (p.Ile753Arg) c.1493T>G (p.Ile498Arg) | |
| 3 | g.130997690A>C | CA435662384 | ATP2C1 | c.2328A>C (p.Ile776=) c.2313A>C (p.Ile771=) c.2189A>C c.2280A>C (p.Ile760=) c.2430A>C (p.Ile810=) c.227A>C (n.227A>C) c.881A>C n.2498A>C c.2259A>C (p.Ile753=) c.1494A>C (p.Ile498=) | |
| 3 | g.130997690A>G | CA354537168 | ATP2C1 | c.2328A>G (p.Ile776Met) c.2313A>G (p.Ile771Met) c.2189A>G c.2280A>G (p.Ile760Met) c.2430A>G (p.Ile810Met) c.227A>G (n.227A>G) c.881A>G n.2498A>G c.2259A>G (p.Ile753Met) c.1494A>G (p.Ile498Met) | |
| 3 | g.130997690A>T | CA435662385 | ATP2C1 | c.2328A>T (p.Ile776=) c.2313A>T (p.Ile771=) c.2189A>T c.2280A>T (p.Ile760=) c.2430A>T (p.Ile810=) c.227A>T (n.227A>T) c.881A>T n.2498A>T c.2259A>T (p.Ile753=) c.1494A>T (p.Ile498=) | |
| 3 | g.130997691C>A | CA2615362 | ATP2C1 | c.2329C>A (p.Leu777Ile) c.2314C>A (p.Leu772Ile) c.2190C>A c.2281C>A (p.Leu761Ile) c.2431C>A (p.Leu811Ile) c.228C>A (n.228C>A) c.882C>A n.2499C>A c.2260C>A (p.Leu754Ile) c.1495C>A (p.Leu499Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.130997691C= | CA1401883637 | ATP2C1 | c.2329C= (p.Leu777=) c.2314C= (p.Leu772=) c.2190C= c.2281C= (p.Leu761=) c.2431C= (p.Leu811=) c.228C= (n.228C=) c.882C= n.2499C= c.2260C= (p.Leu754=) c.1495C= (p.Leu499=) | |
| 3 | g.130997691C>G | CA354537169 | ATP2C1 | c.2329C>G (p.Leu777Val) c.2314C>G (p.Leu772Val) c.2190C>G c.2281C>G (p.Leu761Val) c.2431C>G (p.Leu811Val) c.228C>G (n.228C>G) c.882C>G n.2499C>G c.2260C>G (p.Leu754Val) c.1495C>G (p.Leu499Val) | |
| 3 | g.130997691C>T | CA83504044 | ATP2C1 | c.2329C>T (p.Leu777Phe) c.2314C>T (p.Leu772Phe) c.2190C>T c.2281C>T (p.Leu761Phe) c.2431C>T (p.Leu811Phe) c.228C>T (n.228C>T) c.882C>T n.2499C>T c.2260C>T (p.Leu754Phe) c.1495C>T (p.Leu499Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.130997692T>A | CA354537170 | ATP2C1 | c.2330T>A (p.Leu777His) c.2315T>A (p.Leu772His) c.2191T>A c.2282T>A (p.Leu761His) c.2432T>A (p.Leu811His) c.229T>A (n.229T>A) c.883T>A n.2500T>A c.2261T>A (p.Leu754His) c.1496T>A (p.Leu499His) | |
| 3 | g.130997692T>C | CA354537171 | ATP2C1 | c.2330T>C (p.Leu777Pro) c.2315T>C (p.Leu772Pro) c.2191T>C c.2282T>C (p.Leu761Pro) c.2432T>C (p.Leu811Pro) c.229T>C (n.229T>C) c.883T>C n.2500T>C c.2261T>C (p.Leu754Pro) c.1496T>C (p.Leu499Pro) | |
| 3 | g.130997692T>G | CA354537172 | ATP2C1 | c.2330T>G (p.Leu777Arg) c.2315T>G (p.Leu772Arg) c.2191T>G c.2282T>G (p.Leu761Arg) c.2432T>G (p.Leu811Arg) c.229T>G (n.229T>G) c.883T>G n.2500T>G c.2261T>G (p.Leu754Arg) c.1496T>G (p.Leu499Arg) | dbSNP |
| 3 | g.130997692T= | CA1401883642 | ATP2C1 | c.2330T= (p.Leu777=) c.2315T= (p.Leu772=) c.2191T= c.2282T= (p.Leu761=) c.2432T= (p.Leu811=) c.229T= (n.229T=) c.883T= n.2500T= c.2261T= (p.Leu754=) c.1496T= (p.Leu499=) | |
| 3 | g.130997693T>A | CA435662386 | ATP2C1 | c.2331T>A (p.Leu777=) c.2316T>A (p.Leu772=) c.2192T>A c.2283T>A (p.Leu761=) c.2433T>A (p.Leu811=) c.230T>A (n.230T>A) c.884T>A n.2501T>A c.2262T>A (p.Leu754=) c.1497T>A (p.Leu499=) | |
| 3 | g.130997693T>C | CA435662388 | ATP2C1 | c.2331T>C (p.Leu777=) c.2316T>C (p.Leu772=) c.2192T>C c.2283T>C (p.Leu761=) c.2433T>C (p.Leu811=) c.230T>C (n.230T>C) c.884T>C n.2501T>C c.2262T>C (p.Leu754=) c.1497T>C (p.Leu499=) | |
| 3 | g.130997693T>G | CA435662389 | ATP2C1 | c.2331T>G (p.Leu777=) c.2316T>G (p.Leu772=) c.2192T>G c.2283T>G (p.Leu761=) c.2433T>G (p.Leu811=) c.230T>G (n.230T>G) c.884T>G n.2501T>G c.2262T>G (p.Leu754=) c.1497T>G (p.Leu499=) | |
| 3 | g.130997693T= | CA1401883645 | ATP2C1 | c.2331T= (p.Leu777=) c.2316T= (p.Leu772=) c.2192T= c.2283T= (p.Leu761=) c.2433T= (p.Leu811=) c.230T= (n.230T=) c.884T= n.2501T= c.2262T= (p.Leu754=) c.1497T= (p.Leu499=) | |
| 3 | g.130997694A>C | CA354537175 | ATP2C1 | c.2332A>C (p.Lys778Gln) c.2317A>C (p.Lys773Gln) c.2193A>C c.2284A>C (p.Lys762Gln) c.2434A>C (p.Lys812Gln) c.231A>C (n.231A>C) c.885A>C n.2502A>C c.2263A>C (p.Lys755Gln) c.1498A>C (p.Lys500Gln) | |
| 3 | g.130997694A>G | CA354537174 | ATP2C1 | c.2332A>G (p.Lys778Glu) c.2317A>G (p.Lys773Glu) c.2193A>G c.2284A>G (p.Lys762Glu) c.2434A>G (p.Lys812Glu) c.231A>G (n.231A>G) c.885A>G n.2502A>G c.2263A>G (p.Lys755Glu) c.1498A>G (p.Lys500Glu) | |
| 3 | g.130997694A>T | CA354537173 | ATP2C1 | c.2332A>T (p.Lys778Ter) c.2317A>T (p.Lys773Ter) c.2193A>T c.2284A>T (p.Lys762Ter) c.2434A>T (p.Lys812Ter) c.231A>T (n.231A>T) c.885A>T n.2502A>T c.2263A>T (p.Lys755Ter) c.1498A>T (p.Lys500Ter) | |
| 3 | g.130997697dup | CA16042414 | ATP2C1 | c.2335dup (p.Ile779AsnfsTer19) c.2320dup (p.Ile774AsnfsTer19) c.2196dup c.2287dup (p.Ile763AsnfsTer19) c.2437dup (p.Ile813AsnfsTer19) c.234dup (n.234dup) c.888dup n.2505dup c.2266dup (p.Ile756AsnfsTer19) c.1501dup (p.Ile501AsnfsTer19) | ClinVar dbSNP |
| 3 | g.130997695A= | CA1401883654 | ATP2C1 | c.2333A= (p.Lys778=) c.2318A= (p.Lys773=) c.2194A= c.2285A= (p.Lys762=) c.2435A= (p.Lys812=) c.232A= (n.232A=) c.886A= n.2503A= c.2264A= (p.Lys755=) c.1499A= (p.Lys500=) | |
| 3 | g.130997695A>C | CA354537176 | ATP2C1 | c.2333A>C (p.Lys778Thr) c.2318A>C (p.Lys773Thr) c.2194A>C c.2285A>C (p.Lys762Thr) c.2435A>C (p.Lys812Thr) c.232A>C (n.232A>C) c.886A>C n.2503A>C c.2264A>C (p.Lys755Thr) c.1499A>C (p.Lys500Thr) | |
| 3 | g.130997695A>G | CA2615363 | ATP2C1 | c.2333A>G (p.Lys778Arg) c.2318A>G (p.Lys773Arg) c.2194A>G c.2285A>G (p.Lys762Arg) c.2435A>G (p.Lys812Arg) c.232A>G (n.232A>G) c.886A>G n.2503A>G c.2264A>G (p.Lys755Arg) c.1499A>G (p.Lys500Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.130997695A>T | CA354537177 | ATP2C1 | c.2333A>T (p.Lys778Ile) c.2318A>T (p.Lys773Ile) c.2194A>T c.2285A>T (p.Lys762Ile) c.2435A>T (p.Lys812Ile) c.232A>T (n.232A>T) c.886A>T n.2503A>T c.2264A>T (p.Lys755Ile) c.1499A>T (p.Lys500Ile) | |
| 3 | g.130997696A>C | CA354537178 | ATP2C1 | c.2334A>C (p.Lys778Asn) c.2319A>C (p.Lys773Asn) c.2195A>C c.2286A>C (p.Lys762Asn) c.2436A>C (p.Lys812Asn) c.233A>C (n.233A>C) c.887A>C n.2504A>C c.2265A>C (p.Lys755Asn) c.1500A>C (p.Lys500Asn) | |
| 3 | g.130997696A>G | CA435662393 | ATP2C1 | c.2334A>G (p.Lys778=) c.2319A>G (p.Lys773=) c.2195A>G c.2286A>G (p.Lys762=) c.2436A>G (p.Lys812=) c.233A>G (n.233A>G) c.887A>G n.2504A>G c.2265A>G (p.Lys755=) c.1500A>G (p.Lys500=) | |
| 3 | g.130997696A>T | CA354537179 | ATP2C1 | c.2334A>T (p.Lys778Asn) c.2319A>T (p.Lys773Asn) c.2195A>T c.2286A>T (p.Lys762Asn) c.2436A>T (p.Lys812Asn) c.233A>T (n.233A>T) c.887A>T n.2504A>T c.2265A>T (p.Lys755Asn) c.1500A>T (p.Lys500Asn) | |
| 3 | g.130997697A>C | CA354537180 | ATP2C1 | c.2335A>C (p.Ile779Leu) c.2320A>C (p.Ile774Leu) c.2196A>C c.2287A>C (p.Ile763Leu) c.2437A>C (p.Ile813Leu) c.234A>C (n.234A>C) c.888A>C n.2505A>C c.2266A>C (p.Ile756Leu) c.1501A>C (p.Ile501Leu) | |
| 3 | g.130997697A>G | CA354537181 | ATP2C1 | c.2335A>G (p.Ile779Val) c.2320A>G (p.Ile774Val) c.2196A>G c.2287A>G (p.Ile763Val) c.2437A>G (p.Ile813Val) c.234A>G (n.234A>G) c.888A>G n.2505A>G c.2266A>G (p.Ile756Val) c.1501A>G (p.Ile501Val) | |
| 3 | g.130997697A>T | CA354537182 | ATP2C1 | c.2335A>T (p.Ile779Leu) c.2320A>T (p.Ile774Leu) c.2196A>T c.2287A>T (p.Ile763Leu) c.2437A>T (p.Ile813Leu) c.234A>T (n.234A>T) c.888A>T n.2505A>T c.2266A>T (p.Ile756Leu) c.1501A>T (p.Ile501Leu) | gnomAD v4 |
| 3 | g.130997698T>A | CA354537183 | ATP2C1 | c.2336T>A (p.Ile779Lys) c.2321T>A (p.Ile774Lys) c.2197T>A c.2288T>A (p.Ile763Lys) c.2438T>A (p.Ile813Lys) c.235T>A (n.235T>A) c.889T>A n.2506T>A c.2267T>A (p.Ile756Lys) c.1502T>A (p.Ile501Lys) | |
| 3 | g.130997698T>C | CA354537184 | ATP2C1 | c.2336T>C (p.Ile779Thr) c.2321T>C (p.Ile774Thr) c.2197T>C c.2288T>C (p.Ile763Thr) c.2438T>C (p.Ile813Thr) c.235T>C (n.235T>C) c.889T>C n.2506T>C c.2267T>C (p.Ile756Thr) c.1502T>C (p.Ile501Thr) | |
| 3 | g.130997698T>G | CA354537185 | ATP2C1 | c.2336T>G (p.Ile779Arg) c.2321T>G (p.Ile774Arg) c.2197T>G c.2288T>G (p.Ile763Arg) c.2438T>G (p.Ile813Arg) c.235T>G (n.235T>G) c.889T>G n.2506T>G c.2267T>G (p.Ile756Arg) c.1502T>G (p.Ile501Arg) | |
| 3 | g.130997699A>C | CA435662397 | ATP2C1 | c.2337A>C (p.Ile779=) c.2322A>C (p.Ile774=) c.2198A>C c.2289A>C (p.Ile763=) c.2439A>C (p.Ile813=) c.236A>C (n.236A>C) c.890A>C n.2507A>C c.2268A>C (p.Ile756=) c.1503A>C (p.Ile501=) | |
| 3 | g.130997699A>G | CA354537186 | ATP2C1 | c.2337A>G (p.Ile779Met) c.2322A>G (p.Ile774Met) c.2198A>G c.2289A>G (p.Ile763Met) c.2439A>G (p.Ile813Met) c.236A>G (n.236A>G) c.890A>G n.2507A>G c.2268A>G (p.Ile756Met) c.1503A>G (p.Ile501Met) | gnomAD v4 |
| 3 | g.130997699A>T | CA435662398 | ATP2C1 | c.2337A>T (p.Ile779=) c.2322A>T (p.Ile774=) c.2198A>T c.2289A>T (p.Ile763=) c.2439A>T (p.Ile813=) c.236A>T (n.236A>T) c.890A>T n.2507A>T c.2268A>T (p.Ile756=) c.1503A>T (p.Ile501=) | |
| 3 | g.130997700C>A | CA354537188 | ATP2C1 | c.2338C>A (p.Leu780Ile) c.2323C>A (p.Leu775Ile) c.2199C>A c.2290C>A (p.Leu764Ile) c.2440C>A (p.Leu814Ile) c.237C>A (n.237C>A) c.891C>A n.2508C>A c.2269C>A (p.Leu757Ile) c.1504C>A (p.Leu502Ile) | ClinVar |
| 3 | g.130997700C= | CA1401883656 | ATP2C1 | c.2338C= (p.Leu780=) c.2323C= (p.Leu775=) c.2199C= c.2290C= (p.Leu764=) c.2440C= (p.Leu814=) c.237C= (n.237C=) c.891C= n.2508C= c.2269C= (p.Leu757=) c.1504C= (p.Leu502=) | |
| 3 | g.130997700C>G | CA2615364 | ATP2C1 | c.2338C>G (p.Leu780Val) c.2323C>G (p.Leu775Val) c.2199C>G c.2290C>G (p.Leu764Val) c.2440C>G (p.Leu814Val) c.237C>G (n.237C>G) c.891C>G n.2508C>G c.2269C>G (p.Leu757Val) c.1504C>G (p.Leu502Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.130997700C>T | CA354537187 | ATP2C1 | c.2338C>T (p.Leu780Phe) c.2323C>T (p.Leu775Phe) c.2199C>T c.2290C>T (p.Leu764Phe) c.2440C>T (p.Leu814Phe) c.237C>T (n.237C>T) c.891C>T n.2508C>T c.2269C>T (p.Leu757Phe) c.1504C>T (p.Leu502Phe) | |
| 3 | g.130997701T>A | CA354537189 | ATP2C1 | c.2339T>A (p.Leu780His) c.2324T>A (p.Leu775His) c.2200T>A c.2291T>A (p.Leu764His) c.2441T>A (p.Leu814His) c.238T>A (n.238T>A) c.892T>A n.2509T>A c.2270T>A (p.Leu757His) c.1505T>A (p.Leu502His) | |
| 3 | g.130997701T>C | CA354537190 | ATP2C1 | c.2339T>C (p.Leu780Pro) c.2324T>C (p.Leu775Pro) c.2200T>C c.2291T>C (p.Leu764Pro) c.2441T>C (p.Leu814Pro) c.238T>C (n.238T>C) c.892T>C n.2509T>C c.2270T>C (p.Leu757Pro) c.1505T>C (p.Leu502Pro) | |
| 3 | g.130997701T>G | CA354537191 | ATP2C1 | c.2339T>G (p.Leu780Arg) c.2324T>G (p.Leu775Arg) c.2200T>G c.2291T>G (p.Leu764Arg) c.2441T>G (p.Leu814Arg) c.238T>G (n.238T>G) c.892T>G n.2509T>G c.2270T>G (p.Leu757Arg) c.1505T>G (p.Leu502Arg) | |
| 3 | g.130997702T>A | CA435662399 | ATP2C1 | c.2340T>A (p.Leu780=) c.2325T>A (p.Leu775=) c.2201T>A c.2292T>A (p.Leu764=) c.2442T>A (p.Leu814=) c.239T>A (n.239T>A) c.893T>A n.2510T>A c.2271T>A (p.Leu757=) c.1506T>A (p.Leu502=) | |
| 3 | g.130997702T>C | CA435662400 | ATP2C1 | c.2340T>C (p.Leu780=) c.2325T>C (p.Leu775=) c.2201T>C c.2292T>C (p.Leu764=) c.2442T>C (p.Leu814=) c.239T>C (n.239T>C) c.893T>C n.2510T>C c.2271T>C (p.Leu757=) c.1506T>C (p.Leu502=) | |
| 3 | g.130997702T>G | CA435662401 | ATP2C1 | c.2340T>G (p.Leu780=) c.2325T>G (p.Leu775=) c.2201T>G c.2292T>G (p.Leu764=) c.2442T>G (p.Leu814=) c.239T>G (n.239T>G) c.893T>G n.2510T>G c.2271T>G (p.Leu757=) c.1506T>G (p.Leu502=) | |
| 3 | g.130997703G>A | CA2615365 | ATP2C1 | c.2341G>A (p.Val781Ile) c.2326G>A (p.Val776Ile) c.2202G>A c.2293G>A (p.Val765Ile) c.2443G>A (p.Val815Ile) c.240G>A (n.240G>A) c.894G>A n.2511G>A c.2272G>A (p.Val758Ile) c.1507G>A (p.Val503Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.130997703G>C | CA354537192 | ATP2C1 | c.2341G>C (p.Val781Leu) c.2326G>C (p.Val776Leu) c.2202G>C c.2293G>C (p.Val765Leu) c.2443G>C (p.Val815Leu) c.240G>C (n.240G>C) c.894G>C n.2511G>C c.2272G>C (p.Val758Leu) c.1507G>C (p.Val503Leu) | |
| 3 | g.130997703G= | CA1401883661 | ATP2C1 | c.2341G= (p.Val781=) c.2326G= (p.Val776=) c.2202G= c.2293G= (p.Val765=) c.2443G= (p.Val815=) c.240G= (n.240G=) c.894G= n.2511G= c.2272G= (p.Val758=) c.1507G= (p.Val503=) | |
| 3 | g.130997703G>T | CA354537193 | ATP2C1 | c.2341G>T (p.Val781Phe) c.2326G>T (p.Val776Phe) c.2202G>T c.2293G>T (p.Val765Phe) c.2443G>T (p.Val815Phe) c.240G>T (n.240G>T) c.894G>T n.2511G>T c.2272G>T (p.Val758Phe) c.1507G>T (p.Val503Phe) | |
| 3 | g.130997704T>A | CA354537194 | ATP2C1 | c.2342T>A (p.Val781Asp) c.2327T>A (p.Val776Asp) c.2203T>A c.2294T>A (p.Val765Asp) c.2444T>A (p.Val815Asp) c.241T>A (n.241T>A) c.895T>A n.2512T>A c.2273T>A (p.Val758Asp) c.1508T>A (p.Val503Asp) | |
| 3 | g.130997704T>C | CA354537195 | ATP2C1 | c.2342T>C (p.Val781Ala) c.2327T>C (p.Val776Ala) c.2203T>C c.2294T>C (p.Val765Ala) c.2444T>C (p.Val815Ala) c.241T>C (n.241T>C) c.895T>C n.2512T>C c.2273T>C (p.Val758Ala) c.1508T>C (p.Val503Ala) | |
| 3 | g.130997704T>G | CA354537196 | ATP2C1 | c.2342T>G (p.Val781Gly) c.2327T>G (p.Val776Gly) c.2203T>G c.2294T>G (p.Val765Gly) c.2444T>G (p.Val815Gly) c.241T>G (n.241T>G) c.895T>G n.2512T>G c.2273T>G (p.Val758Gly) c.1508T>G (p.Val503Gly) | |
| 3 | g.130997705T>A | CA435662402 | ATP2C1 | c.2343T>A (p.Val781=) c.2328T>A (p.Val776=) c.2204T>A c.2295T>A (p.Val765=) c.2445T>A (p.Val815=) c.242T>A (n.242T>A) c.896T>A n.2513T>A c.2274T>A (p.Val758=) c.1509T>A (p.Val503=) | |
| 3 | g.130997705T>C | CA435662403 | ATP2C1 | c.2343T>C (p.Val781=) c.2328T>C (p.Val776=) c.2204T>C c.2295T>C (p.Val765=) c.2445T>C (p.Val815=) c.242T>C (n.242T>C) c.896T>C n.2513T>C c.2274T>C (p.Val758=) c.1509T>C (p.Val503=) | |
| 3 | g.130997705T>G | CA435662404 | ATP2C1 | c.2343T>G (p.Val781=) c.2328T>G (p.Val776=) c.2204T>G c.2295T>G (p.Val765=) c.2445T>G (p.Val815=) c.242T>G (n.242T>G) c.896T>G n.2513T>G c.2274T>G (p.Val758=) c.1509T>G (p.Val503=) | |
| 3 | g.130997706T>A | CA354537197 | ATP2C1 | c.2344T>A (p.Ser782Thr) c.2329T>A (p.Ser777Thr) c.2205T>A c.2296T>A (p.Ser766Thr) c.2446T>A (p.Ser816Thr) c.243T>A (n.243T>A) c.897T>A n.2514T>A c.2275T>A (p.Ser759Thr) c.1510T>A (p.Ser504Thr) | |
| 3 | g.130997706T>C | CA354537198 | ATP2C1 | c.2344T>C (p.Ser782Pro) c.2329T>C (p.Ser777Pro) c.2205T>C c.2296T>C (p.Ser766Pro) c.2446T>C (p.Ser816Pro) c.243T>C (n.243T>C) c.897T>C n.2514T>C c.2275T>C (p.Ser759Pro) c.1510T>C (p.Ser504Pro) | |
| 3 | g.130997706T>G | CA354537199 | ATP2C1 | c.2344T>G (p.Ser782Ala) c.2329T>G (p.Ser777Ala) c.2205T>G c.2296T>G (p.Ser766Ala) c.2446T>G (p.Ser816Ala) c.243T>G (n.243T>G) c.897T>G n.2514T>G c.2275T>G (p.Ser759Ala) c.1510T>G (p.Ser504Ala) | |
| 3 | g.130997707C>A | CA354537201 | ATP2C1 | c.2345C>A (p.Ser782Ter) c.2330C>A (p.Ser777Ter) c.2206C>A c.2297C>A (p.Ser766Ter) c.2447C>A (p.Ser816Ter) c.244C>A (n.244C>A) c.898C>A n.2515C>A c.2276C>A (p.Ser759Ter) c.1511C>A (p.Ser504Ter) | |
| 3 | g.130997707C>G | CA354537202 | ATP2C1 | c.2345C>G (p.Ser782Ter) c.2330C>G (p.Ser777Ter) c.2206C>G c.2297C>G (p.Ser766Ter) c.2447C>G (p.Ser816Ter) c.244C>G (n.244C>G) c.898C>G n.2515C>G c.2276C>G (p.Ser759Ter) c.1511C>G (p.Ser504Ter) | |
| 3 | g.130997707C>T | CA354537200 | ATP2C1 | c.2345C>T (p.Ser782Leu) c.2330C>T (p.Ser777Leu) c.2206C>T c.2297C>T (p.Ser766Leu) c.2447C>T (p.Ser816Leu) c.244C>T (n.244C>T) c.898C>T n.2515C>T c.2276C>T (p.Ser759Leu) c.1511C>T (p.Ser504Leu) | |
| 3 | g.130997708A= | CA1401883668 | ATP2C1 | c.2346A= (p.Ser782=) c.2331A= (p.Ser777=) c.2207A= c.2298A= (p.Ser766=) c.2448A= (p.Ser816=) c.245A= (n.245A=) c.899A= n.2516A= c.2277A= (p.Ser759=) c.1512A= (p.Ser504=) | |
| 3 | g.130997708A>C | CA435662405 | ATP2C1 | c.2346A>C (p.Ser782=) c.2331A>C (p.Ser777=) c.2207A>C c.2298A>C (p.Ser766=) c.2448A>C (p.Ser816=) c.245A>C (n.245A>C) c.899A>C n.2516A>C c.2277A>C (p.Ser759=) c.1512A>C (p.Ser504=) | |
| 3 | g.130997708A>G | CA83504086 | ATP2C1 | c.2346A>G (p.Ser782=) c.2331A>G (p.Ser777=) c.2207A>G c.2298A>G (p.Ser766=) c.2448A>G (p.Ser816=) c.245A>G (n.245A>G) c.899A>G n.2516A>G c.2277A>G (p.Ser759=) c.1512A>G (p.Ser504=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.130997708A>T | CA435662406 | ATP2C1 | c.2346A>T (p.Ser782=) c.2331A>T (p.Ser777=) c.2207A>T c.2298A>T (p.Ser766=) c.2448A>T (p.Ser816=) c.245A>T (n.245A>T) c.899A>T n.2516A>T c.2277A>T (p.Ser759=) c.1512A>T (p.Ser504=) | |
| 3 | g.130997709T>A | CA354537203 | ATP2C1 | c.2347T>A (p.Ser783Thr) c.2332T>A (p.Ser778Thr) c.2208T>A c.2299T>A (p.Ser767Thr) c.2449T>A (p.Ser817Thr) c.246T>A (n.246T>A) c.900T>A n.2517T>A c.2278T>A (p.Ser760Thr) c.1513T>A (p.Ser505Thr) | |
| 3 | g.130997709T>C | CA354537204 | ATP2C1 | c.2347T>C (p.Ser783Pro) c.2332T>C (p.Ser778Pro) c.2208T>C c.2299T>C (p.Ser767Pro) c.2449T>C (p.Ser817Pro) c.246T>C (n.246T>C) c.900T>C n.2517T>C c.2278T>C (p.Ser760Pro) c.1513T>C (p.Ser505Pro) | |
| 3 | g.130997709T>G | CA354537205 | ATP2C1 | c.2347T>G (p.Ser783Ala) c.2332T>G (p.Ser778Ala) c.2208T>G c.2299T>G (p.Ser767Ala) c.2449T>G (p.Ser817Ala) c.246T>G (n.246T>G) c.900T>G n.2517T>G c.2278T>G (p.Ser760Ala) c.1513T>G (p.Ser505Ala) | |
| 3 | g.130997710C>A | CA354537206 | ATP2C1 | c.2348C>A (p.Ser783Ter) c.2333C>A (p.Ser778Ter) c.2209C>A c.2300C>A (p.Ser767Ter) c.2450C>A (p.Ser817Ter) c.247C>A (n.247C>A) c.901C>A n.2518C>A c.2279C>A (p.Ser760Ter) c.1514C>A (p.Ser505Ter) | |
| 3 | g.130997710C>G | CA354537207 | ATP2C1 | c.2348C>G (p.Ser783Ter) c.2333C>G (p.Ser778Ter) c.2209C>G c.2300C>G (p.Ser767Ter) c.2450C>G (p.Ser817Ter) c.247C>G (n.247C>G) c.901C>G n.2518C>G c.2279C>G (p.Ser760Ter) c.1514C>G (p.Ser505Ter) | |
| 3 | g.130997710C>T | CA354537208 | ATP2C1 | c.2348C>T (p.Ser783Leu) c.2333C>T (p.Ser778Leu) c.2209C>T c.2300C>T (p.Ser767Leu) c.2450C>T (p.Ser817Leu) c.247C>T (n.247C>T) c.901C>T n.2518C>T c.2279C>T (p.Ser760Leu) c.1514C>T (p.Ser505Leu) | |
| 3 | g.130997711A= | CA1401883672 | ATP2C1 | c.2349A= (p.Ser783=) c.2334A= (p.Ser778=) c.2210A= c.2301A= (p.Ser767=) c.2451A= (p.Ser817=) c.248A= (n.248A=) c.902A= n.2519A= c.2280A= (p.Ser760=) c.1515A= (p.Ser505=) | |
| 3 | g.130997711A>C | CA435662407 | ATP2C1 | c.2349A>C (p.Ser783=) c.2334A>C (p.Ser778=) c.2210A>C c.2301A>C (p.Ser767=) c.2451A>C (p.Ser817=) c.248A>C (n.248A>C) c.902A>C n.2519A>C c.2280A>C (p.Ser760=) c.1515A>C (p.Ser505=) | |
| 3 | g.130997711A>G | CA435662408 | ATP2C1 | c.2349A>G (p.Ser783=) c.2334A>G (p.Ser778=) c.2210A>G c.2301A>G (p.Ser767=) c.2451A>G (p.Ser817=) c.248A>G (n.248A>G) c.902A>G n.2519A>G c.2280A>G (p.Ser760=) c.1515A>G (p.Ser505=) | dbSNP |
| 3 | g.130997711A>T | CA435662409 | ATP2C1 | c.2349A>T (p.Ser783=) c.2334A>T (p.Ser778=) c.2210A>T c.2301A>T (p.Ser767=) c.2451A>T (p.Ser817=) c.248A>T (n.248A>T) c.902A>T n.2519A>T c.2280A>T (p.Ser760=) c.1515A>T (p.Ser505=) | |
| 3 | g.130997712A= | CA1401883674 | ATP2C1 | c.2350A= (p.Ile784=) c.2335A= (p.Ile779=) c.2211A= c.2302A= (p.Ile768=) c.2452A= (p.Ile818=) c.249A= (n.249A=) c.903A= n.2520A= c.2281A= (p.Ile761=) c.1516A= (p.Ile506=) | |
| 3 | g.130997712A>C | CA354537209 | ATP2C1 | c.2350A>C (p.Ile784Leu) c.2335A>C (p.Ile779Leu) c.2211A>C c.2302A>C (p.Ile768Leu) c.2452A>C (p.Ile818Leu) c.249A>C (n.249A>C) c.903A>C n.2520A>C c.2281A>C (p.Ile761Leu) c.1516A>C (p.Ile506Leu) | |
| 3 | g.130997712A>G | CA2615366 | ATP2C1 | c.2350A>G (p.Ile784Val) c.2335A>G (p.Ile779Val) c.2211A>G c.2302A>G (p.Ile768Val) c.2452A>G (p.Ile818Val) c.249A>G (n.249A>G) c.903A>G n.2520A>G c.2281A>G (p.Ile761Val) c.1516A>G (p.Ile506Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.130997712A>T | CA354537210 | ATP2C1 | c.2350A>T (p.Ile784Leu) c.2335A>T (p.Ile779Leu) c.2211A>T c.2302A>T (p.Ile768Leu) c.2452A>T (p.Ile818Leu) c.249A>T (n.249A>T) c.903A>T n.2520A>T c.2281A>T (p.Ile761Leu) c.1516A>T (p.Ile506Leu) | |
| 3 | g.130997713T>A | CA354537211 | ATP2C1 | c.2351T>A (p.Ile784Lys) c.2336T>A (p.Ile779Lys) c.2212T>A c.2303T>A (p.Ile768Lys) c.2453T>A (p.Ile818Lys) c.250T>A (n.250T>A) c.904T>A n.2521T>A c.2282T>A (p.Ile761Lys) c.1517T>A (p.Ile506Lys) | |
| 3 | g.130997713T>C | CA354537212 | ATP2C1 | c.2351T>C (p.Ile784Thr) c.2336T>C (p.Ile779Thr) c.2212T>C c.2303T>C (p.Ile768Thr) c.2453T>C (p.Ile818Thr) c.250T>C (n.250T>C) c.904T>C n.2521T>C c.2282T>C (p.Ile761Thr) c.1517T>C (p.Ile506Thr) | COSMIC COSMIC |
| 3 | g.130997713T>G | CA354537213 | ATP2C1 | c.2351T>G (p.Ile784Arg) c.2336T>G (p.Ile779Arg) c.2212T>G c.2303T>G (p.Ile768Arg) c.2453T>G (p.Ile818Arg) c.250T>G (n.250T>G) c.904T>G n.2521T>G c.2282T>G (p.Ile761Arg) c.1517T>G (p.Ile506Arg) | |
| 3 | g.130997714A>C | CA435662410 | ATP2C1 | c.2352A>C (p.Ile784=) c.2337A>C (p.Ile779=) c.2213A>C c.2304A>C (p.Ile768=) c.2454A>C (p.Ile818=) c.251A>C (n.251A>C) c.905A>C n.2522A>C c.2283A>C (p.Ile761=) c.1518A>C (p.Ile506=) | |
| 3 | g.130997714A>G | CA354537214 | ATP2C1 | c.2352A>G (p.Ile784Met) c.2337A>G (p.Ile779Met) c.2213A>G c.2304A>G (p.Ile768Met) c.2454A>G (p.Ile818Met) c.251A>G (n.251A>G) c.905A>G n.2522A>G c.2283A>G (p.Ile761Met) c.1518A>G (p.Ile506Met) | |
| 3 | g.130997714A>T | CA435662411 | ATP2C1 | c.2352A>T (p.Ile784=) c.2337A>T (p.Ile779=) c.2213A>T c.2304A>T (p.Ile768=) c.2454A>T (p.Ile818=) c.251A>T (n.251A>T) c.905A>T n.2522A>T c.2283A>T (p.Ile761=) c.1518A>T (p.Ile506=) | gnomAD v4 |
| 3 | g.130997715A= | CA1401883677 | ATP2C1 | c.2353A= (p.Ile785=) c.2338A= (p.Ile780=) c.2214A= c.2305A= (p.Ile769=) c.2455A= (p.Ile819=) c.252A= (n.252A=) c.906A= n.2523A= c.2284A= (p.Ile762=) c.1519A= (p.Ile507=) | |
| 3 | g.130997715A>C | CA354537216 | ATP2C1 | c.2353A>C (p.Ile785Leu) c.2338A>C (p.Ile780Leu) c.2214A>C c.2305A>C (p.Ile769Leu) c.2455A>C (p.Ile819Leu) c.252A>C (n.252A>C) c.906A>C n.2523A>C c.2284A>C (p.Ile762Leu) c.1519A>C (p.Ile507Leu) | |
| 3 | g.130997715A>G | CA83504112 | ATP2C1 | c.2353A>G (p.Ile785Val) c.2338A>G (p.Ile780Val) c.2214A>G c.2305A>G (p.Ile769Val) c.2455A>G (p.Ile819Val) c.252A>G (n.252A>G) c.906A>G n.2523A>G c.2284A>G (p.Ile762Val) c.1519A>G (p.Ile507Val) | dbSNP gnomAD v4 |
| 3 | g.130997715A>T | CA354537215 | ATP2C1 | c.2353A>T (p.Ile785Phe) c.2338A>T (p.Ile780Phe) c.2214A>T c.2305A>T (p.Ile769Phe) c.2455A>T (p.Ile819Phe) c.252A>T (n.252A>T) c.906A>T n.2523A>T c.2284A>T (p.Ile762Phe) c.1519A>T (p.Ile507Phe) |