| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) |