Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
3 | g.130997716T>A | CA2615367 | ATP2C1 | c.2354T>A (p.Ile785Asn) c.2339T>A (p.Ile780Asn) c.2215T>A c.2306T>A (p.Ile769Asn) c.2456T>A (p.Ile819Asn) c.253T>A (n.253T>A) c.907T>A n.2524T>A c.2285T>A (p.Ile762Asn) c.1520T>A (p.Ile507Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.130997716T>C | CA354537217 | ATP2C1 | c.2354T>C (p.Ile785Thr) c.2339T>C (p.Ile780Thr) c.2215T>C c.2306T>C (p.Ile769Thr) c.2456T>C (p.Ile819Thr) c.253T>C (n.253T>C) c.907T>C n.2524T>C c.2285T>C (p.Ile762Thr) c.1520T>C (p.Ile507Thr) | |
3 | g.130997716T>G | CA354537218 | ATP2C1 | c.2354T>G (p.Ile785Ser) c.2339T>G (p.Ile780Ser) c.2215T>G c.2306T>G (p.Ile769Ser) c.2456T>G (p.Ile819Ser) c.253T>G (n.253T>G) c.907T>G n.2524T>G c.2285T>G (p.Ile762Ser) c.1520T>G (p.Ile507Ser) |