Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.130997703G>ACA2615365ATP2C1c.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
3g.130997703G>CCA354537192ATP2C1c.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)
3g.130997703G=CA1401883661ATP2C1c.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=)
3g.130997703G>TCA354537193ATP2C1c.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)
3g.130997704T>ACA354537194ATP2C1c.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)
3g.130997704T>CCA354537195ATP2C1c.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)
3g.130997704T>GCA354537196ATP2C1c.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)
3g.130997705T>ACA435662402ATP2C1c.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=)
3g.130997705T>CCA435662403ATP2C1c.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=)
3g.130997705T>GCA435662404ATP2C1c.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=)
3g.130997706T>ACA354537197ATP2C1c.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)
3g.130997706T>CCA354537198ATP2C1c.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)
3g.130997706T>GCA354537199ATP2C1c.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)
3g.130997707C>ACA354537201ATP2C1c.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)
3g.130997707C>GCA354537202ATP2C1c.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)
3g.130997707C>TCA354537200ATP2C1c.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)
3g.130997708A=CA1401883668ATP2C1c.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=)
3g.130997708A>CCA435662405ATP2C1c.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=)
3g.130997708A>GCA83504086ATP2C1c.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
3g.130997708A>TCA435662406ATP2C1c.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=)
3g.130997709T>ACA354537203ATP2C1c.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)
3g.130997709T>CCA354537204ATP2C1c.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)
3g.130997709T>GCA354537205ATP2C1c.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)
3g.130997710C>ACA354537206ATP2C1c.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)
3g.130997710C>GCA354537207ATP2C1c.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)
3g.130997710C>TCA354537208ATP2C1c.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)
3g.130997711A=CA1401883672ATP2C1c.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=)
3g.130997711A>CCA435662407ATP2C1c.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=)
3g.130997711A>GCA435662408ATP2C1c.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
3g.130997711A>TCA435662409ATP2C1c.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=)
3g.130997712A=CA1401883674ATP2C1c.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=)
3g.130997712A>CCA354537209ATP2C1c.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)
3g.130997712A>GCA2615366ATP2C1c.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
3g.130997712A>TCA354537210ATP2C1c.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)
3g.130997713T>ACA354537211ATP2C1c.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)
3g.130997713T>CCA354537212ATP2C1c.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
3g.130997713T>GCA354537213ATP2C1c.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)
3g.130997714A>CCA435662410ATP2C1c.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=)
3g.130997714A>GCA354537214ATP2C1c.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)
3g.130997714A>TCA435662411ATP2C1c.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
3g.130997715A=CA1401883677ATP2C1c.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=)
3g.130997715A>CCA354537216ATP2C1c.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)
3g.130997715A>GCA83504112ATP2C1c.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
3g.130997715A>TCA354537215ATP2C1c.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)
3g.130997716T>ACA2615367ATP2C1c.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
3g.130997716T>CCA354537217ATP2C1c.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)
3g.130997716T>GCA354537218ATP2C1c.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)
3g.130997716T=CA1401883682ATP2C1c.2354T= (p.Ile785=)
c.2339T= (p.Ile780=)
c.2215T=
c.2306T= (p.Ile769=)
c.2456T= (p.Ile819=)
c.253T= (n.253T=)
c.907T=
n.2524T=
c.2285T= (p.Ile762=)
c.1520T= (p.Ile507=)
3g.130997717C>ACA435662412ATP2C1c.2355C>A (p.Ile785=)
c.2340C>A (p.Ile780=)
c.2216C>A
c.2307C>A (p.Ile769=)
c.2457C>A (p.Ile819=)
c.254C>A (n.254C>A)
c.908C>A
n.2525C>A
c.2286C>A (p.Ile762=)
c.1521C>A (p.Ile507=)
3g.130997717C>GCA354537219ATP2C1c.2355C>G (p.Ile785Met)
c.2340C>G (p.Ile780Met)
c.2216C>G
c.2307C>G (p.Ile769Met)
c.2457C>G (p.Ile819Met)
c.254C>G (n.254C>G)
c.908C>G
n.2525C>G
c.2286C>G (p.Ile762Met)
c.1521C>G (p.Ile507Met)
 gnomAD v4

Number of alleles fetched