Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.130997594T>ACA2615354ATP2C1c.2244-12T>A (n.2244-12T>A)
c.2229-12T>A (n.2229-12T>A)
c.2105-12T>A
c.2196-12T>A (n.2196-12T>A)
c.2346-12T>A (n.2346-12T>A)
c.143-12T>A (n.143-12T>A)
c.797-12T>A
n.2414-12T>A
c.2175-12T>A (n.2175-12T>A)
c.1410-12T>A (n.1410-12T>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.130997594T=CA1401883540ATP2C1c.2244-12T= (n.2244-12T=)
c.2229-12T= (n.2229-12T=)
c.2105-12T=
c.2196-12T= (n.2196-12T=)
c.2346-12T= (n.2346-12T=)
c.143-12T= (n.143-12T=)
c.797-12T=
n.2414-12T=
c.2175-12T= (n.2175-12T=)
c.1410-12T= (n.1410-12T=)
3g.130997596delCA2667684497ATP2C1c.2244-10del (n.2244-10del)
c.2229-10del (n.2229-10del)
c.2105-10del
c.2196-10del (n.2196-10del)
c.2346-10del (n.2346-10del)
c.143-10del (n.143-10del)
c.797-10del
n.2414-10del
c.2175-10del (n.2175-10del)
c.1410-10del (n.1410-10del)
gnomAD v4
3g.130997595T>CCA1401883544ATP2C1c.2244-11T>C (n.2244-11T>C)
c.2229-11T>C (n.2229-11T>C)
c.2105-11T>C
c.2196-11T>C (n.2196-11T>C)
c.2346-11T>C (n.2346-11T>C)
c.143-11T>C (n.143-11T>C)
c.797-11T>C
n.2414-11T>C
c.2175-11T>C (n.2175-11T>C)
c.1410-11T>C (n.1410-11T>C)
dbSNP gnomAD v4
3g.130997595T=CA1401883543ATP2C1c.2244-11T= (n.2244-11T=)
c.2229-11T= (n.2229-11T=)
c.2105-11T=
c.2196-11T= (n.2196-11T=)
c.2346-11T= (n.2346-11T=)
c.143-11T= (n.143-11T=)
c.797-11T=
n.2414-11T=
c.2175-11T= (n.2175-11T=)
c.1410-11T= (n.1410-11T=)
3g.130997599T>ACA1401883547ATP2C1c.2244-7T>A (n.2244-7T>A)
c.2229-7T>A (n.2229-7T>A)
c.2105-7T>A
c.2196-7T>A (n.2196-7T>A)
c.2346-7T>A (n.2346-7T>A)
c.143-7T>A (n.143-7T>A)
c.797-7T>A
n.2414-7T>A
c.2175-7T>A (n.2175-7T>A)
c.1410-7T>A (n.1410-7T>A)
dbSNP
3g.130997599T=CA1401883546ATP2C1c.2244-7T= (n.2244-7T=)
c.2229-7T= (n.2229-7T=)
c.2105-7T=
c.2196-7T= (n.2196-7T=)
c.2346-7T= (n.2346-7T=)
c.143-7T= (n.143-7T=)
c.797-7T=
n.2414-7T=
c.2175-7T= (n.2175-7T=)
c.1410-7T= (n.1410-7T=)
3g.130997602T>CCA2615355ATP2C1c.2244-4T>C (n.2244-4T>C)
c.2229-4T>C (n.2229-4T>C)
c.2105-4T>C
c.2196-4T>C (n.2196-4T>C)
c.2346-4T>C (n.2346-4T>C)
c.143-4T>C (n.143-4T>C)
c.797-4T>C
n.2414-4T>C
c.2175-4T>C (n.2175-4T>C)
c.1410-4T>C (n.1410-4T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.130997602T=CA1401883549ATP2C1c.2244-4T= (n.2244-4T=)
c.2229-4T= (n.2229-4T=)
c.2105-4T=
c.2196-4T= (n.2196-4T=)
c.2346-4T= (n.2346-4T=)
c.143-4T= (n.143-4T=)
c.797-4T=
n.2414-4T=
c.2175-4T= (n.2175-4T=)
c.1410-4T= (n.1410-4T=)
3g.130997603A=CA1401883553ATP2C1c.2244-3A= (n.2244-3A=)
c.2229-3A= (n.2229-3A=)
c.2105-3A=
c.2196-3A= (n.2196-3A=)
c.2346-3A= (n.2346-3A=)
c.143-3A= (n.143-3A=)
c.797-3A=
n.2414-3A=
c.2175-3A= (n.2175-3A=)
c.1410-3A= (n.1410-3A=)
3g.130997603A>GCA546240900ATP2C1c.2244-3A>G (n.2244-3A>G)
c.2229-3A>G (n.2229-3A>G)
c.2105-3A>G
c.2196-3A>G (n.2196-3A>G)
c.2346-3A>G (n.2346-3A>G)
c.143-3A>G (n.143-3A>G)
c.797-3A>G
n.2414-3A>G
c.2175-3A>G (n.2175-3A>G)
c.1410-3A>G (n.1410-3A>G)
dbSNP gnomAD v2 gnomAD v4
3g.130997603A>TCA2615356ATP2C1c.2244-3A>T (n.2244-3A>T)
c.2229-3A>T (n.2229-3A>T)
c.2105-3A>T
c.2196-3A>T (n.2196-3A>T)
c.2346-3A>T (n.2346-3A>T)
c.143-3A>T (n.143-3A>T)
c.797-3A>T
n.2414-3A>T
c.2175-3A>T (n.2175-3A>T)
c.1410-3A>T (n.1410-3A>T)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.130997604A=CA1401883557ATP2C1c.2244-2A= (n.2244-2A=)
c.2229-2A= (n.2229-2A=)
c.2105-2A=
c.2196-2A= (n.2196-2A=)
c.2346-2A= (n.2346-2A=)
c.143-2A= (n.143-2A=)
c.797-2A=
n.2414-2A=
c.2175-2A= (n.2175-2A=)
c.1410-2A= (n.1410-2A=)
3g.130997604A>CCA354536906ATP2C1c.2244-2A>C (n.2244-2A>C)
c.2229-2A>C (n.2229-2A>C)
c.2105-2A>C
c.2196-2A>C (n.2196-2A>C)
c.2346-2A>C (n.2346-2A>C)
c.143-2A>C (n.143-2A>C)
c.797-2A>C
n.2414-2A>C
c.2175-2A>C (n.2175-2A>C)
c.1410-2A>C (n.1410-2A>C)
3g.130997604A>GCA354536902ATP2C1c.2244-2A>G (n.2244-2A>G)
c.2229-2A>G (n.2229-2A>G)
c.2105-2A>G
c.2196-2A>G (n.2196-2A>G)
c.2346-2A>G (n.2346-2A>G)
c.143-2A>G (n.143-2A>G)
c.797-2A>G
n.2414-2A>G
c.2175-2A>G (n.2175-2A>G)
c.1410-2A>G (n.1410-2A>G)
3g.130997604A>TCA2615357ATP2C1c.2244-2A>T (n.2244-2A>T)
c.2229-2A>T (n.2229-2A>T)
c.2105-2A>T
c.2196-2A>T (n.2196-2A>T)
c.2346-2A>T (n.2346-2A>T)
c.143-2A>T (n.143-2A>T)
c.797-2A>T
n.2414-2A>T
c.2175-2A>T (n.2175-2A>T)
c.1410-2A>T (n.1410-2A>T)
dbSNP ExAC
3g.130997605G>ACA354536910ATP2C1c.2244-1G>A (n.2244-1G>A)
c.2229-1G>A (n.2229-1G>A)
c.2105-1G>A
c.2196-1G>A (n.2196-1G>A)
c.2346-1G>A (n.2346-1G>A)
c.143-1G>A (n.143-1G>A)
c.797-1G>A
n.2414-1G>A
c.2175-1G>A (n.2175-1G>A)
c.1410-1G>A (n.1410-1G>A)
3g.130997605G>CCA354536912ATP2C1c.2244-1G>C (n.2244-1G>C)
c.2229-1G>C (n.2229-1G>C)
c.2105-1G>C
c.2196-1G>C (n.2196-1G>C)
c.2346-1G>C (n.2346-1G>C)
c.143-1G>C (n.143-1G>C)
c.797-1G>C
n.2414-1G>C
c.2175-1G>C (n.2175-1G>C)
c.1410-1G>C (n.1410-1G>C)
3g.130997605G>TCA354536915ATP2C1c.2244-1G>T (n.2244-1G>T)
c.2229-1G>T (n.2229-1G>T)
c.2105-1G>T
c.2196-1G>T (n.2196-1G>T)
c.2346-1G>T (n.2346-1G>T)
c.143-1G>T (n.143-1G>T)
c.797-1G>T
n.2414-1G>T
c.2175-1G>T (n.2175-1G>T)
c.1410-1G>T (n.1410-1G>T)
3g.130997606C>ACA354536917ATP2C1c.2244C>A (p.Ser748Arg)
c.2229C>A (p.Ser743Arg)
c.2105C>A
c.2196C>A (p.Ser732Arg)
c.2346C>A (p.Ser782Arg)
c.143C>A (p.Ala48Asp)
c.797C>A
n.2414C>A
c.2175C>A (p.Ser725Arg)
c.1410C>A (p.Ser470Arg)
3g.130997606C>GCA354536918ATP2C1c.2244C>G (p.Ser748Arg)
c.2229C>G (p.Ser743Arg)
c.2105C>G
c.2196C>G (p.Ser732Arg)
c.2346C>G (p.Ser782Arg)
c.143C>G (p.Ala48Gly)
c.797C>G
n.2414C>G
c.2175C>G (p.Ser725Arg)
c.1410C>G (p.Ser470Arg)
3g.130997606C>TCA435662188ATP2C1c.2244C>T (p.Ser748=)
c.2229C>T (p.Ser743=)
c.2105C>T
c.2196C>T (p.Ser732=)
c.2346C>T (p.Ser782=)
c.143C>T (p.Ala48Val)
c.797C>T
n.2414C>T
c.2175C>T (p.Ser725=)
c.1410C>T (p.Ser470=)
gnomAD v4
3g.130997607C>ACA354536922ATP2C1c.2245C>A (p.Leu749Ile)
c.2230C>A (p.Leu744Ile)
c.2106C>A
c.2197C>A (p.Leu733Ile)
c.2347C>A (p.Leu783Ile)
c.144C>A (p.Ala48=)
c.798C>A
n.2415C>A
c.2176C>A (p.Leu726Ile)
c.1411C>A (p.Leu471Ile)
3g.130997607C>GCA354536924ATP2C1c.2245C>G (p.Leu749Val)
c.2230C>G (p.Leu744Val)
c.2106C>G
c.2197C>G (p.Leu733Val)
c.2347C>G (p.Leu783Val)
c.144C>G (p.Ala48=)
c.798C>G
n.2415C>G
c.2176C>G (p.Leu726Val)
c.1411C>G (p.Leu471Val)
3g.130997607C>TCA354536926ATP2C1c.2245C>T (p.Leu749Phe)
c.2230C>T (p.Leu744Phe)
c.2106C>T
c.2197C>T (p.Leu733Phe)
c.2347C>T (p.Leu783Phe)
c.144C>T (p.Ala48=)
c.798C>T
n.2415C>T
c.2176C>T (p.Leu726Phe)
c.1411C>T (p.Leu471Phe)
gnomAD v4
3g.130997608T>ACA354536929ATP2C1c.2246T>A (p.Leu749His)
c.2231T>A (p.Leu744His)
c.2107T>A
c.2198T>A (p.Leu733His)
c.2348T>A (p.Leu783His)
c.145T>A (p.Leu49Met)
c.799T>A
n.2416T>A
c.2177T>A (p.Leu726His)
c.1412T>A (p.Leu471His)
3g.130997608T>CCA354536931ATP2C1c.2246T>C (p.Leu749Pro)
c.2231T>C (p.Leu744Pro)
c.2107T>C
c.2198T>C (p.Leu733Pro)
c.2348T>C (p.Leu783Pro)
c.145T>C (p.Leu49=)
c.799T>C
n.2416T>C
c.2177T>C (p.Leu726Pro)
c.1412T>C (p.Leu471Pro)
3g.130997608T>GCA354536933ATP2C1c.2246T>G (p.Leu749Arg)
c.2231T>G (p.Leu744Arg)
c.2107T>G
c.2198T>G (p.Leu733Arg)
c.2348T>G (p.Leu783Arg)
c.145T>G (p.Leu49Val)
c.799T>G
n.2416T>G
c.2177T>G (p.Leu726Arg)
c.1412T>G (p.Leu471Arg)
3g.130997609T>ACA435662197ATP2C1c.2247T>A (p.Leu749=)
c.2232T>A (p.Leu744=)
c.2108T>A
c.2199T>A (p.Leu733=)
c.2349T>A (p.Leu783=)
c.146T>A (p.Leu49Ter)
c.800T>A
n.2417T>A
c.2178T>A (p.Leu726=)
c.1413T>A (p.Leu471=)
3g.130997609T>CCA435662200ATP2C1c.2247T>C (p.Leu749=)
c.2232T>C (p.Leu744=)
c.2108T>C
c.2199T>C (p.Leu733=)
c.2349T>C (p.Leu783=)
c.146T>C (p.Leu49Ser)
c.800T>C
n.2417T>C
c.2178T>C (p.Leu726=)
c.1413T>C (p.Leu471=)
3g.130997609T>GCA435662202ATP2C1c.2247T>G (p.Leu749=)
c.2232T>G (p.Leu744=)
c.2108T>G
c.2199T>G (p.Leu733=)
c.2349T>G (p.Leu783=)
c.146T>G (p.Leu49Trp)
c.800T>G
n.2417T>G
c.2178T>G (p.Leu726=)
c.1413T>G (p.Leu471=)
3g.130997610G>ACA354536942ATP2C1c.2248G>A (p.Gly750Arg)
c.2233G>A (p.Gly745Arg)
c.2109G>A
c.2200G>A (p.Gly734Arg)
c.2350G>A (p.Gly784Arg)
c.147G>A (p.Leu49=)
c.801G>A
n.2418G>A
c.2179G>A (p.Gly727Arg)
c.1414G>A (p.Gly472Arg)
3g.130997610G>CCA354536940ATP2C1c.2248G>C (p.Gly750Arg)
c.2233G>C (p.Gly745Arg)
c.2109G>C
c.2200G>C (p.Gly734Arg)
c.2350G>C (p.Gly784Arg)
c.147G>C (p.Leu49Phe)
c.801G>C
n.2418G>C
c.2179G>C (p.Gly727Arg)
c.1414G>C (p.Gly472Arg)
3g.130997610G>TCA354536937ATP2C1c.2248G>T (p.Gly750Ter)
c.2233G>T (p.Gly745Ter)
c.2109G>T
c.2200G>T (p.Gly734Ter)
c.2350G>T (p.Gly784Ter)
c.147G>T (p.Leu49Phe)
c.801G>T
n.2418G>T
c.2179G>T (p.Gly727Ter)
c.1414G>T (p.Gly472Ter)
gnomAD v4
3g.130997611G>ACA354536945ATP2C1c.2249G>A (p.Gly750Glu)
c.2234G>A (p.Gly745Glu)
c.2110G>A
c.2201G>A (p.Gly734Glu)
c.2351G>A (p.Gly784Glu)
c.148G>A (p.Glu50Lys)
c.802G>A
n.2419G>A
c.2180G>A (p.Gly727Glu)
c.1415G>A (p.Gly472Glu)
3g.130997611G>CCA354536947ATP2C1c.2249G>C (p.Gly750Ala)
c.2234G>C (p.Gly745Ala)
c.2110G>C
c.2201G>C (p.Gly734Ala)
c.2351G>C (p.Gly784Ala)
c.148G>C (p.Glu50Gln)
c.802G>C
n.2419G>C
c.2180G>C (p.Gly727Ala)
c.1415G>C (p.Gly472Ala)
3g.130997611G>TCA354536949ATP2C1c.2249G>T (p.Gly750Val)
c.2234G>T (p.Gly745Val)
c.2110G>T
c.2201G>T (p.Gly734Val)
c.2351G>T (p.Gly784Val)
c.148G>T (p.Glu50Ter)
c.802G>T
n.2419G>T
c.2180G>T (p.Gly727Val)
c.1415G>T (p.Gly472Val)
3g.130997612A=CA1401883559ATP2C1c.2250A= (p.Gly750=)
c.2235A= (p.Gly745=)
c.2111A=
c.2202A= (p.Gly734=)
c.2352A= (p.Gly784=)
c.149A= (p.Glu50=)
c.803A=
n.2420A=
c.2181A= (p.Gly727=)
c.1416A= (p.Gly472=)
3g.130997612A>CCA435662210ATP2C1c.2250A>C (p.Gly750=)
c.2235A>C (p.Gly745=)
c.2111A>C
c.2202A>C (p.Gly734=)
c.2352A>C (p.Gly784=)
c.149A>C (p.Glu50Ala)
c.803A>C
n.2420A>C
c.2181A>C (p.Gly727=)
c.1416A>C (p.Gly472=)
dbSNP gnomAD v4
3g.130997612A>GCA435662211ATP2C1c.2250A>G (p.Gly750=)
c.2235A>G (p.Gly745=)
c.2111A>G
c.2202A>G (p.Gly734=)
c.2352A>G (p.Gly784=)
c.149A>G (p.Glu50Gly)
c.803A>G
n.2420A>G
c.2181A>G (p.Gly727=)
c.1416A>G (p.Gly472=)
3g.130997612A>TCA435662214ATP2C1c.2250A>T (p.Gly750=)
c.2235A>T (p.Gly745=)
c.2111A>T
c.2202A>T (p.Gly734=)
c.2352A>T (p.Gly784=)
c.149A>T (p.Glu50Val)
c.803A>T
n.2420A>T
c.2181A>T (p.Gly727=)
c.1416A>T (p.Gly472=)
3g.130997613G>ACA354536953ATP2C1c.2251G>A (p.Val751Ile)
c.2236G>A (p.Val746Ile)
c.2112G>A
c.2203G>A (p.Val735Ile)
c.2353G>A (p.Val785Ile)
c.150G>A (p.Glu50=)
c.804G>A
n.2421G>A
c.2182G>A (p.Val728Ile)
c.1417G>A (p.Val473Ile)
gnomAD v4
3g.130997613G>CCA354536955ATP2C1c.2251G>C (p.Val751Leu)
c.2236G>C (p.Val746Leu)
c.2112G>C
c.2203G>C (p.Val735Leu)
c.2353G>C (p.Val785Leu)
c.150G>C (p.Glu50Asp)
c.804G>C
n.2421G>C
c.2182G>C (p.Val728Leu)
c.1417G>C (p.Val473Leu)
3g.130997613G>TCA354536957ATP2C1c.2251G>T (p.Val751Leu)
c.2236G>T (p.Val746Leu)
c.2112G>T
c.2203G>T (p.Val735Leu)
c.2353G>T (p.Val785Leu)
c.150G>T (p.Glu50Asp)
c.804G>T
n.2421G>T
c.2182G>T (p.Val728Leu)
c.1417G>T (p.Val473Leu)
3g.130997613_130997614delCA2586965906ATP2C1c.2251_2252del (p.Val751ArgfsTer5)
c.2236_2237del (p.Val746ArgfsTer5)
c.2112_2113del
c.2203_2204del (p.Val735ArgfsTer5)
c.2353_2354del (p.Val785ArgfsTer5)
c.150_151del (p.Ter51GluextTer?)
c.804_805del
n.2421_2422del
c.2182_2183del (p.Val728ArgfsTer5)
c.1417_1418del (p.Val473ArgfsTer5)
3g.130997614T>ACA354536960ATP2C1c.2252T>A (p.Val751Glu)
c.2237T>A (p.Val746Glu)
c.2113T>A
c.2204T>A (p.Val735Glu)
c.2354T>A (p.Val785Glu)
c.151T>A (p.Ter51Lys)
c.805T>A
n.2422T>A
c.2183T>A (p.Val728Glu)
c.1418T>A (p.Val473Glu)
3g.130997614T>CCA354536962ATP2C1c.2252T>C (p.Val751Ala)
c.2237T>C (p.Val746Ala)
c.2113T>C
c.2204T>C (p.Val735Ala)
c.2354T>C (p.Val785Ala)
c.151T>C (p.Ter51Gln)
c.805T>C
n.2422T>C
c.2183T>C (p.Val728Ala)
c.1418T>C (p.Val473Ala)
gnomAD v4
3g.130997614T>GCA354536964ATP2C1c.2252T>G (p.Val751Gly)
c.2237T>G (p.Val746Gly)
c.2113T>G
c.2204T>G (p.Val735Gly)
c.2354T>G (p.Val785Gly)
c.151T>G (p.Ter51Glu)
c.805T>G
n.2422T>G
c.2183T>G (p.Val728Gly)
c.1418T>G (p.Val473Gly)
3g.130997615A=CA1401883562ATP2C1c.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=)
3g.130997615A>CCA435662217ATP2C1c.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=)

Number of alleles fetched