| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38543788C>A | CA405662753 | RYR1 | c.335C>A c.317C>A c.11925C>A (p.Asn3975Lys) c.11910C>A (p.Asn3970Lys) c.11907C>A (p.Asn3969Lys) c.534C>A c.5294C>A c.11892C>A (p.Asn3964Lys) c.11922C>A (p.Asn3974Lys) | |
| 19 | g.38543788C>G | CA405662754 | RYR1 | c.335C>G c.317C>G c.11925C>G (p.Asn3975Lys) c.11910C>G (p.Asn3970Lys) c.11907C>G (p.Asn3969Lys) c.534C>G c.5294C>G c.11892C>G (p.Asn3964Lys) c.11922C>G (p.Asn3974Lys) | COSMIC |
| 19 | g.38543788C>T | CA080489 | RYR1 | c.335C>T c.317C>T c.11925C>T (p.Asn3975=) c.11910C>T (p.Asn3970=) c.11907C>T (p.Asn3969=) c.534C>T c.5294C>T c.11892C>T (p.Asn3964=) c.11922C>T (p.Asn3974=) | |
| 19 | g.38543789C>A | CA405662758 | RYR1 | c.336C>A c.318C>A c.11926C>A (p.Gln3976Lys) c.11911C>A (p.Gln3971Lys) c.11908C>A (p.Gln3970Lys) c.535C>A c.5295C>A c.11893C>A (p.Gln3965Lys) c.11923C>A (p.Gln3975Lys) | |
| 19 | g.38543789C>G | CA405662757 | RYR1 | c.336C>G c.318C>G c.11926C>G (p.Gln3976Glu) c.11911C>G (p.Gln3971Glu) c.11908C>G (p.Gln3970Glu) c.535C>G c.5295C>G c.11893C>G (p.Gln3965Glu) c.11923C>G (p.Gln3975Glu) | gnomAD v4 |
| 19 | g.38543789C>T | CA405662756 | RYR1 | c.336C>T c.318C>T c.11926C>T (p.Gln3976Ter) c.11911C>T (p.Gln3971Ter) c.11908C>T (p.Gln3970Ter) c.535C>T c.5295C>T c.11893C>T (p.Gln3965Ter) c.11923C>T (p.Gln3975Ter) | |
| 19 | g.38543790A>C | CA405662763 | RYR1 | c.337A>C c.319A>C c.11927A>C (p.Gln3976Pro) c.11912A>C (p.Gln3971Pro) c.11909A>C (p.Gln3970Pro) c.536A>C c.5296A>C c.11894A>C (p.Gln3965Pro) c.11924A>C (p.Gln3975Pro) | |
| 19 | g.38543790A>G | CA405662760 | RYR1 | c.337A>G c.319A>G c.11927A>G (p.Gln3976Arg) c.11912A>G (p.Gln3971Arg) c.11909A>G (p.Gln3970Arg) c.536A>G c.5296A>G c.11894A>G (p.Gln3965Arg) c.11924A>G (p.Gln3975Arg) | |
| 19 | g.38543790A>T | CA405662762 | RYR1 | c.337A>T c.319A>T c.11927A>T (p.Gln3976Leu) c.11912A>T (p.Gln3971Leu) c.11909A>T (p.Gln3970Leu) c.536A>T c.5296A>T c.11894A>T (p.Gln3965Leu) c.11924A>T (p.Gln3975Leu) | |
| 19 | g.38543791G>A | CA507242601 | RYR1 | c.338G>A c.320G>A c.11928G>A (p.Gln3976=) c.11913G>A (p.Gln3971=) c.11910G>A (p.Gln3970=) c.537G>A c.5297G>A c.11895G>A (p.Gln3965=) c.11925G>A (p.Gln3975=) | |
| 19 | g.38543791G>C | CA405662769 | RYR1 | c.338G>C c.320G>C c.11928G>C (p.Gln3976His) c.11913G>C (p.Gln3971His) c.11910G>C (p.Gln3970His) c.537G>C c.5297G>C c.11895G>C (p.Gln3965His) c.11925G>C (p.Gln3975His) | |
| 19 | g.38543791G>T | CA405662771 | RYR1 | c.338G>T c.320G>T c.11928G>T (p.Gln3976His) c.11913G>T (p.Gln3971His) c.11910G>T (p.Gln3970His) c.537G>T c.5297G>T c.11895G>T (p.Gln3965His) c.11925G>T (p.Gln3975His) | |
| 19 | g.38543792C>A | CA405662774 | RYR1 | c.339C>A c.321C>A c.11929C>A (p.Gln3977Lys) c.11914C>A (p.Gln3972Lys) c.11911C>A (p.Gln3971Lys) c.538C>A c.5298C>A c.11896C>A (p.Gln3966Lys) c.11926C>A (p.Gln3976Lys) | |
| 19 | g.38543792C= | CA2335074527 | RYR1 | c.339C= c.321C= c.11929C= (p.Gln3977=) c.11914C= (p.Gln3972=) c.11911C= (p.Gln3971=) c.538C= c.5298C= c.11896C= (p.Gln3966=) c.11926C= (p.Gln3976=) | |
| 19 | g.38543792C>G | CA405662775 | RYR1 | c.339C>G c.321C>G c.11929C>G (p.Gln3977Glu) c.11914C>G (p.Gln3972Glu) c.11911C>G (p.Gln3971Glu) c.538C>G c.5298C>G c.11896C>G (p.Gln3966Glu) c.11926C>G (p.Gln3976Glu) | gnomAD v4 |
| 19 | g.38543792C>T | CA405662776 | RYR1 | c.339C>T c.321C>T c.11929C>T (p.Gln3977Ter) c.11914C>T (p.Gln3972Ter) c.11911C>T (p.Gln3971Ter) c.538C>T c.5298C>T c.11896C>T (p.Gln3966Ter) c.11926C>T (p.Gln3976Ter) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38543793A>C | CA405662777 | RYR1 | c.340A>C c.322A>C c.11930A>C (p.Gln3977Pro) c.11915A>C (p.Gln3972Pro) c.11912A>C (p.Gln3971Pro) c.539A>C c.5299A>C c.11897A>C (p.Gln3966Pro) c.11927A>C (p.Gln3976Pro) | |
| 19 | g.38543793A>G | CA405662779 | RYR1 | c.340A>G c.322A>G c.11930A>G (p.Gln3977Arg) c.11915A>G (p.Gln3972Arg) c.11912A>G (p.Gln3971Arg) c.539A>G c.5299A>G c.11897A>G (p.Gln3966Arg) c.11927A>G (p.Gln3976Arg) | |
| 19 | g.38543793A>T | CA405662780 | RYR1 | c.340A>T c.322A>T c.11930A>T (p.Gln3977Leu) c.11915A>T (p.Gln3972Leu) c.11912A>T (p.Gln3971Leu) c.539A>T c.5299A>T c.11897A>T (p.Gln3966Leu) c.11927A>T (p.Gln3976Leu) | |
| 19 | g.38543794G>A | CA507242607 | RYR1 | c.341G>A c.323G>A c.11931G>A (p.Gln3977=) c.11916G>A (p.Gln3972=) c.11913G>A (p.Gln3971=) c.540G>A c.5300G>A c.11898G>A (p.Gln3966=) c.11928G>A (p.Gln3976=) | |
| 19 | g.38543794G>C | CA405662781 | RYR1 | c.341G>C c.323G>C c.11931G>C (p.Gln3977His) c.11916G>C (p.Gln3972His) c.11913G>C (p.Gln3971His) c.540G>C c.5300G>C c.11898G>C (p.Gln3966His) c.11928G>C (p.Gln3976His) | |
| 19 | g.38543794G>T | CA405662783 | RYR1 | c.341G>T c.323G>T c.11931G>T (p.Gln3977His) c.11916G>T (p.Gln3972His) c.11913G>T (p.Gln3971His) c.540G>T c.5300G>T c.11898G>T (p.Gln3966His) c.11928G>T (p.Gln3976His) | |
| 19 | g.38543795A= | CA2335074528 | RYR1 | c.342A= c.324A= c.11932A= (p.Ser3978=) c.11917A= (p.Ser3973=) c.11914A= (p.Ser3972=) c.541A= c.5301A= c.11899A= (p.Ser3967=) c.11929A= (p.Ser3977=) | |
| 19 | g.38543795A>C | CA405662787 | RYR1 | c.342A>C c.324A>C c.11932A>C (p.Ser3978Arg) c.11917A>C (p.Ser3973Arg) c.11914A>C (p.Ser3972Arg) c.541A>C c.5301A>C c.11899A>C (p.Ser3967Arg) c.11929A>C (p.Ser3977Arg) | |
| 19 | g.38543795A>G | CA057930 | RYR1 | c.342A>G c.324A>G c.11932A>G (p.Ser3978Gly) c.11917A>G (p.Ser3973Gly) c.11914A>G (p.Ser3972Gly) c.541A>G c.5301A>G c.11899A>G (p.Ser3967Gly) c.11929A>G (p.Ser3977Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543795A>T | CA405662785 | RYR1 | c.342A>T c.324A>T c.11932A>T (p.Ser3978Cys) c.11917A>T (p.Ser3973Cys) c.11914A>T (p.Ser3972Cys) c.541A>T c.5301A>T c.11899A>T (p.Ser3967Cys) c.11929A>T (p.Ser3977Cys) | |
| 19 | g.38543796G>A | CA405662790 | RYR1 | c.343G>A c.325G>A c.11933G>A (p.Ser3978Asn) c.11918G>A (p.Ser3973Asn) c.11915G>A (p.Ser3972Asn) c.542G>A c.5302G>A c.11900G>A (p.Ser3967Asn) c.11930G>A (p.Ser3977Asn) | ClinVar dbSNP gnomAD v2 |
| 19 | g.38543796G>C | CA405662792 | RYR1 | c.343G>C c.325G>C c.11933G>C (p.Ser3978Thr) c.11918G>C (p.Ser3973Thr) c.11915G>C (p.Ser3972Thr) c.542G>C c.5302G>C c.11900G>C (p.Ser3967Thr) c.11930G>C (p.Ser3977Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38543796G= | CA2335074529 | RYR1 | c.343G= c.325G= c.11933G= (p.Ser3978=) c.11918G= (p.Ser3973=) c.11915G= (p.Ser3972=) c.542G= c.5302G= c.11900G= (p.Ser3967=) c.11930G= (p.Ser3977=) | |
| 19 | g.38543796G>T | CA405662794 | RYR1 | c.343G>T c.325G>T c.11933G>T (p.Ser3978Ile) c.11918G>T (p.Ser3973Ile) c.11915G>T (p.Ser3972Ile) c.542G>T c.5302G>T c.11900G>T (p.Ser3967Ile) c.11930G>T (p.Ser3977Ile) | gnomAD v4 |
| 19 | g.38543797C>A | CA405662796 | RYR1 | c.344C>A c.326C>A c.11934C>A (p.Ser3978Arg) c.11919C>A (p.Ser3973Arg) c.11916C>A (p.Ser3972Arg) c.543C>A c.5303C>A c.11901C>A (p.Ser3967Arg) c.11931C>A (p.Ser3977Arg) | |
| 19 | g.38543797C= | CA2335074530 | RYR1 | c.344C= c.326C= c.11934C= (p.Ser3978=) c.11919C= (p.Ser3973=) c.11916C= (p.Ser3972=) c.543C= c.5303C= c.11901C= (p.Ser3967=) c.11931C= (p.Ser3977=) | |
| 19 | g.38543797C>G | CA405662798 | RYR1 | c.344C>G c.326C>G c.11934C>G (p.Ser3978Arg) c.11919C>G (p.Ser3973Arg) c.11916C>G (p.Ser3972Arg) c.543C>G c.5303C>G c.11901C>G (p.Ser3967Arg) c.11931C>G (p.Ser3977Arg) | |
| 19 | g.38543797C>T | CA057937 | RYR1 | c.344C>T c.326C>T c.11934C>T (p.Ser3978=) c.11919C>T (p.Ser3973=) c.11916C>T (p.Ser3972=) c.543C>T c.5303C>T c.11901C>T (p.Ser3967=) c.11931C>T (p.Ser3977=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38543798C>A | CA405662800 | RYR1 | c.345C>A c.327C>A c.11935C>A (p.Leu3979Met) c.11920C>A (p.Leu3974Met) c.11917C>A (p.Leu3973Met) c.544C>A c.5304C>A c.11902C>A (p.Leu3968Met) c.11932C>A (p.Leu3978Met) | |
| 19 | g.38543798C>G | CA405662802 | RYR1 | c.345C>G c.327C>G c.11935C>G (p.Leu3979Val) c.11920C>G (p.Leu3974Val) c.11917C>G (p.Leu3973Val) c.544C>G c.5304C>G c.11902C>G (p.Leu3968Val) c.11932C>G (p.Leu3978Val) | |
| 19 | g.38543798C>T | CA507242612 | RYR1 | c.345C>T c.327C>T c.11935C>T (p.Leu3979=) c.11920C>T (p.Leu3974=) c.11917C>T (p.Leu3973=) c.544C>T c.5304C>T c.11902C>T (p.Leu3968=) c.11932C>T (p.Leu3978=) | |
| 19 | g.38543799T>A | CA405662804 | RYR1 | c.346T>A c.328T>A c.11936T>A (p.Leu3979Gln) c.11921T>A (p.Leu3974Gln) c.11918T>A (p.Leu3973Gln) c.545T>A c.5305T>A c.11903T>A (p.Leu3968Gln) c.11933T>A (p.Leu3978Gln) | |
| 19 | g.38543799T>C | CA405662806 | RYR1 | c.346T>C c.328T>C c.11936T>C (p.Leu3979Pro) c.11921T>C (p.Leu3974Pro) c.11918T>C (p.Leu3973Pro) c.545T>C c.5305T>C c.11903T>C (p.Leu3968Pro) c.11933T>C (p.Leu3978Pro) | |
| 19 | g.38543799T>G | CA405662808 | RYR1 | c.346T>G c.328T>G c.11936T>G (p.Leu3979Arg) c.11921T>G (p.Leu3974Arg) c.11918T>G (p.Leu3973Arg) c.545T>G c.5305T>G c.11903T>G (p.Leu3968Arg) c.11933T>G (p.Leu3978Arg) | |
| 19 | g.38543800G>A | CA507242616 | RYR1 | c.347G>A c.329G>A c.11937G>A (p.Leu3979=) c.11922G>A (p.Leu3974=) c.11919G>A (p.Leu3973=) c.546G>A c.5306G>A c.11904G>A (p.Leu3968=) c.11934G>A (p.Leu3978=) | gnomAD v4 |
| 19 | g.38543800G>C | CA507242617 | RYR1 | c.347G>C c.329G>C c.11937G>C (p.Leu3979=) c.11922G>C (p.Leu3974=) c.11919G>C (p.Leu3973=) c.546G>C c.5306G>C c.11904G>C (p.Leu3968=) c.11934G>C (p.Leu3978=) | |
| 19 | g.38543800G>T | CA507242618 | RYR1 | c.347G>T c.329G>T c.11937G>T (p.Leu3979=) c.11922G>T (p.Leu3974=) c.11919G>T (p.Leu3973=) c.546G>T c.5306G>T c.11904G>T (p.Leu3968=) c.11934G>T (p.Leu3978=) | |
| 19 | g.38543801G>A | CA405662810 | RYR1 | c.348G>A c.330G>A c.11938G>A (p.Ala3980Thr) c.11923G>A (p.Ala3975Thr) c.11920G>A (p.Ala3974Thr) c.547G>A c.5307G>A c.11905G>A (p.Ala3969Thr) c.11935G>A (p.Ala3979Thr) | |
| 19 | g.38543801G>C | CA405662812 | RYR1 | c.348G>C c.330G>C c.11938G>C (p.Ala3980Pro) c.11923G>C (p.Ala3975Pro) c.11920G>C (p.Ala3974Pro) c.547G>C c.5307G>C c.11905G>C (p.Ala3969Pro) c.11935G>C (p.Ala3979Pro) | |
| 19 | g.38543801G>T | CA405662814 | RYR1 | c.348G>T c.330G>T c.11938G>T (p.Ala3980Ser) c.11923G>T (p.Ala3975Ser) c.11920G>T (p.Ala3974Ser) c.547G>T c.5307G>T c.11905G>T (p.Ala3969Ser) c.11935G>T (p.Ala3979Ser) | COSMIC |
| 19 | g.38543802C>A | CA405662817 | RYR1 | c.349C>A c.331C>A c.11939C>A (p.Ala3980Glu) c.11924C>A (p.Ala3975Glu) c.11921C>A (p.Ala3974Glu) c.548C>A c.5308C>A c.11906C>A (p.Ala3969Glu) c.11936C>A (p.Ala3979Glu) | |
| 19 | g.38543802C>G | CA405662819 | RYR1 | c.349C>G c.331C>G c.11939C>G (p.Ala3980Gly) c.11924C>G (p.Ala3975Gly) c.11921C>G (p.Ala3974Gly) c.548C>G c.5308C>G c.11906C>G (p.Ala3969Gly) c.11936C>G (p.Ala3979Gly) | gnomAD v4 |
| 19 | g.38543802C>T | CA405662816 | RYR1 | c.349C>T c.331C>T c.11939C>T (p.Ala3980Val) c.11924C>T (p.Ala3975Val) c.11921C>T (p.Ala3974Val) c.548C>T c.5308C>T c.11906C>T (p.Ala3969Val) c.11936C>T (p.Ala3979Val) | COSMIC |
| 19 | g.38543803G>A | CA308092402 | RYR1 | c.350G>A c.332G>A c.11940G>A (p.Ala3980=) c.11925G>A (p.Ala3975=) c.11922G>A (p.Ala3974=) c.549G>A c.5309G>A c.11907G>A (p.Ala3969=) c.11937G>A (p.Ala3979=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38543803G>C | CA507242622 | RYR1 | c.350G>C c.332G>C c.11940G>C (p.Ala3980=) c.11925G>C (p.Ala3975=) c.11922G>C (p.Ala3974=) c.549G>C c.5309G>C c.11907G>C (p.Ala3969=) c.11937G>C (p.Ala3979=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38543803G= | CA2335074531 | RYR1 | c.350G= c.332G= c.11940G= (p.Ala3980=) c.11925G= (p.Ala3975=) c.11922G= (p.Ala3974=) c.549G= c.5309G= c.11907G= (p.Ala3969=) c.11937G= (p.Ala3979=) | |
| 19 | g.38543803G>T | CA057939 | RYR1 | c.350G>T c.332G>T c.11940G>T (p.Ala3980=) c.11925G>T (p.Ala3975=) c.11922G>T (p.Ala3974=) c.549G>T c.5309G>T c.11907G>T (p.Ala3969=) c.11937G>T (p.Ala3979=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543804C>A | CA405662822 | RYR1 | c.351C>A c.333C>A c.11941C>A (p.His3981Asn) c.11926C>A (p.His3976Asn) c.11923C>A (p.His3975Asn) c.550C>A c.5310C>A c.11908C>A (p.His3970Asn) c.11938C>A (p.His3980Asn) | dbSNP |
| 19 | g.38543804C= | CA2335074532 | RYR1 | c.351C= c.333C= c.11941C= (p.His3981=) c.11926C= (p.His3976=) c.11923C= (p.His3975=) c.550C= c.5310C= c.11908C= (p.His3970=) c.11938C= (p.His3980=) | |
| 19 | g.38543804C>G | CA405662825 | RYR1 | c.351C>G c.333C>G c.11941C>G (p.His3981Asp) c.11926C>G (p.His3976Asp) c.11923C>G (p.His3975Asp) c.550C>G c.5310C>G c.11908C>G (p.His3970Asp) c.11938C>G (p.His3980Asp) | |
| 19 | g.38543804C>T | CA023947 | RYR1 | c.351C>T c.333C>T c.11941C>T (p.His3981Tyr) c.11926C>T (p.His3976Tyr) c.11923C>T (p.His3975Tyr) c.550C>T c.5310C>T c.11908C>T (p.His3970Tyr) c.11938C>T (p.His3980Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543805A>C | CA405662827 | RYR1 | c.352A>C c.334A>C c.11942A>C (p.His3981Pro) c.11927A>C (p.His3976Pro) c.11924A>C (p.His3975Pro) c.551A>C c.5311A>C c.11909A>C (p.His3970Pro) c.11939A>C (p.His3980Pro) | |
| 19 | g.38543805A>G | CA405662828 | RYR1 | c.352A>G c.334A>G c.11942A>G (p.His3981Arg) c.11927A>G (p.His3976Arg) c.11924A>G (p.His3975Arg) c.551A>G c.5311A>G c.11909A>G (p.His3970Arg) c.11939A>G (p.His3980Arg) | |
| 19 | g.38543805A>T | CA405662829 | RYR1 | c.352A>T c.334A>T c.11942A>T (p.His3981Leu) c.11927A>T (p.His3976Leu) c.11924A>T (p.His3975Leu) c.551A>T c.5311A>T c.11909A>T (p.His3970Leu) c.11939A>T (p.His3980Leu) | |
| 19 | g.38543806C>A | CA405662830 | RYR1 | c.353C>A c.335C>A c.11943C>A (p.His3981Gln) c.11928C>A (p.His3976Gln) c.11925C>A (p.His3975Gln) c.552C>A c.5312C>A c.11910C>A (p.His3970Gln) c.11940C>A (p.His3980Gln) | |
| 19 | g.38543806C= | CA2335074533 | RYR1 | c.353C= c.335C= c.11943C= (p.His3981=) c.11928C= (p.His3976=) c.11925C= (p.His3975=) c.552C= c.5312C= c.11910C= (p.His3970=) c.11940C= (p.His3980=) | |
| 19 | g.38543806C>G | CA405662831 | RYR1 | c.353C>G c.335C>G c.11943C>G (p.His3981Gln) c.11928C>G (p.His3976Gln) c.11925C>G (p.His3975Gln) c.552C>G c.5312C>G c.11910C>G (p.His3970Gln) c.11940C>G (p.His3980Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38543806C>T | CA507242624 | RYR1 | c.353C>T c.335C>T c.11943C>T (p.His3981=) c.11928C>T (p.His3976=) c.11925C>T (p.His3975=) c.552C>T c.5312C>T c.11910C>T (p.His3970=) c.11940C>T (p.His3980=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38543807A= | CA2335074534 | RYR1 | c.354A= c.336A= c.11944A= (p.Ser3982=) c.11929A= (p.Ser3977=) c.11926A= (p.Ser3976=) c.553A= c.5313A= c.11911A= (p.Ser3971=) c.11941A= (p.Ser3981=) | |
| 19 | g.38543807A>C | CA405662832 | RYR1 | c.354A>C c.336A>C c.11944A>C (p.Ser3982Arg) c.11929A>C (p.Ser3977Arg) c.11926A>C (p.Ser3976Arg) c.553A>C c.5313A>C c.11911A>C (p.Ser3971Arg) c.11941A>C (p.Ser3981Arg) | |
| 19 | g.38543807A>G | CA405662833 | RYR1 | c.354A>G c.336A>G c.11944A>G (p.Ser3982Gly) c.11929A>G (p.Ser3977Gly) c.11926A>G (p.Ser3976Gly) c.553A>G c.5313A>G c.11911A>G (p.Ser3971Gly) c.11941A>G (p.Ser3981Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543807A>T | CA405662834 | RYR1 | c.354A>T c.336A>T c.11944A>T (p.Ser3982Cys) c.11929A>T (p.Ser3977Cys) c.11926A>T (p.Ser3976Cys) c.553A>T c.5313A>T c.11911A>T (p.Ser3971Cys) c.11941A>T (p.Ser3981Cys) | |
| 19 | g.38543808G>A | CA405662837 | RYR1 | c.355G>A c.337G>A c.11945G>A (p.Ser3982Asn) c.11930G>A (p.Ser3977Asn) c.11927G>A (p.Ser3976Asn) c.554G>A c.5314G>A c.11912G>A (p.Ser3971Asn) c.11942G>A (p.Ser3981Asn) | |
| 19 | g.38543808G>C | CA405662836 | RYR1 | c.355G>C c.337G>C c.11945G>C (p.Ser3982Thr) c.11930G>C (p.Ser3977Thr) c.11927G>C (p.Ser3976Thr) c.554G>C c.5314G>C c.11912G>C (p.Ser3971Thr) c.11942G>C (p.Ser3981Thr) | |
| 19 | g.38543808G>T | CA405662835 | RYR1 | c.355G>T c.337G>T c.11945G>T (p.Ser3982Ile) c.11930G>T (p.Ser3977Ile) c.11927G>T (p.Ser3976Ile) c.554G>T c.5314G>T c.11912G>T (p.Ser3971Ile) c.11942G>T (p.Ser3981Ile) | |
| 19 | g.38543809T>A | CA405662838 | RYR1 | c.356T>A c.338T>A c.11946T>A (p.Ser3982Arg) c.11931T>A (p.Ser3977Arg) c.11928T>A (p.Ser3976Arg) c.555T>A c.5315T>A c.11913T>A (p.Ser3971Arg) c.11943T>A (p.Ser3981Arg) | |
| 19 | g.38543809T>C | CA507242626 | RYR1 | c.356T>C c.338T>C c.11946T>C (p.Ser3982=) c.11931T>C (p.Ser3977=) c.11928T>C (p.Ser3976=) c.555T>C c.5315T>C c.11913T>C (p.Ser3971=) c.11943T>C (p.Ser3981=) | |
| 19 | g.38543809T>G | CA405662839 | RYR1 | c.356T>G c.338T>G c.11946T>G (p.Ser3982Arg) c.11931T>G (p.Ser3977Arg) c.11928T>G (p.Ser3976Arg) c.555T>G c.5315T>G c.11913T>G (p.Ser3971Arg) c.11943T>G (p.Ser3981Arg) | |
| 19 | g.38543810C>A | CA405662840 | RYR1 | c.357C>A c.339C>A c.11947C>A (p.Arg3983Ser) c.11932C>A (p.Arg3978Ser) c.11929C>A (p.Arg3977Ser) c.556C>A c.5316C>A c.11914C>A (p.Arg3972Ser) c.11944C>A (p.Arg3982Ser) | |
| 19 | g.38543810C= | CA2335074535 | RYR1 | c.357C= c.339C= c.11947C= (p.Arg3983=) c.11932C= (p.Arg3978=) c.11929C= (p.Arg3977=) c.556C= c.5316C= c.11914C= (p.Arg3972=) c.11944C= (p.Arg3982=) | |
| 19 | g.38543810C>G | CA405662841 | RYR1 | c.357C>G c.339C>G c.11947C>G (p.Arg3983Gly) c.11932C>G (p.Arg3978Gly) c.11929C>G (p.Arg3977Gly) c.556C>G c.5316C>G c.11914C>G (p.Arg3972Gly) c.11944C>G (p.Arg3982Gly) | |
| 19 | g.38543810C>T | CA405662842 | RYR1 | c.357C>T c.339C>T c.11947C>T (p.Arg3983Cys) c.11932C>T (p.Arg3978Cys) c.11929C>T (p.Arg3977Cys) c.556C>T c.5316C>T c.11914C>T (p.Arg3972Cys) c.11944C>T (p.Arg3982Cys) | ClinVar dbSNP COSMIC |
| 19 | g.38543811G>A | CA405662843 | RYR1 | c.358G>A c.340G>A c.11948G>A (p.Arg3983His) c.11933G>A (p.Arg3978His) c.11930G>A (p.Arg3977His) c.557G>A c.5317G>A c.11915G>A (p.Arg3972His) c.11945G>A (p.Arg3982His) | |
| 19 | g.38543811G>C | CA405662844 | RYR1 | c.358G>C c.340G>C c.11948G>C (p.Arg3983Pro) c.11933G>C (p.Arg3978Pro) c.11930G>C (p.Arg3977Pro) c.557G>C c.5317G>C c.11915G>C (p.Arg3972Pro) c.11945G>C (p.Arg3982Pro) | |
| 19 | g.38543811G>T | CA405662845 | RYR1 | c.358G>T c.340G>T c.11948G>T (p.Arg3983Leu) c.11933G>T (p.Arg3978Leu) c.11930G>T (p.Arg3977Leu) c.557G>T c.5317G>T c.11915G>T (p.Arg3972Leu) c.11945G>T (p.Arg3982Leu) | |
| 19 | g.38543812C>A | CA507242628 | RYR1 | c.359C>A c.341C>A c.11949C>A (p.Arg3983=) c.11934C>A (p.Arg3978=) c.11931C>A (p.Arg3977=) c.558C>A c.5318C>A c.11916C>A (p.Arg3972=) c.11946C>A (p.Arg3982=) | gnomAD v4 |
| 19 | g.38543812C>G | CA507242631 | RYR1 | c.359C>G c.341C>G c.11949C>G (p.Arg3983=) c.11934C>G (p.Arg3978=) c.11931C>G (p.Arg3977=) c.558C>G c.5318C>G c.11916C>G (p.Arg3972=) c.11946C>G (p.Arg3982=) | ClinVar |
| 19 | g.38543812C>T | CA507242629 | RYR1 | c.359C>T c.341C>T c.11949C>T (p.Arg3983=) c.11934C>T (p.Arg3978=) c.11931C>T (p.Arg3977=) c.558C>T c.5318C>T c.11916C>T (p.Arg3972=) c.11946C>T (p.Arg3982=) | |
| 19 | g.38543813C>A | CA405662846 | RYR1 | c.360C>A c.342C>A c.11950C>A (p.Leu3984Ile) c.11935C>A (p.Leu3979Ile) c.11932C>A (p.Leu3978Ile) c.559C>A c.5319C>A c.11917C>A (p.Leu3973Ile) c.11947C>A (p.Leu3983Ile) | |
| 19 | g.38543813C= | CA2335074536 | RYR1 | c.360C= c.342C= c.11950C= (p.Leu3984=) c.11935C= (p.Leu3979=) c.11932C= (p.Leu3978=) c.559C= c.5319C= c.11917C= (p.Leu3973=) c.11947C= (p.Leu3983=) | |
| 19 | g.38543813C>G | CA405662847 | RYR1 | c.360C>G c.342C>G c.11950C>G (p.Leu3984Val) c.11935C>G (p.Leu3979Val) c.11932C>G (p.Leu3978Val) c.559C>G c.5319C>G c.11917C>G (p.Leu3973Val) c.11947C>G (p.Leu3983Val) | |
| 19 | g.38543813C>T | CA507242633 | RYR1 | c.360C>T c.342C>T c.11950C>T (p.Leu3984=) c.11935C>T (p.Leu3979=) c.11932C>T (p.Leu3978=) c.559C>T c.5319C>T c.11917C>T (p.Leu3973=) c.11947C>T (p.Leu3983=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38543814T>A | CA405662848 | RYR1 | c.361T>A c.343T>A c.11951T>A (p.Leu3984Gln) c.11936T>A (p.Leu3979Gln) c.11933T>A (p.Leu3978Gln) c.560T>A c.5320T>A c.11918T>A (p.Leu3973Gln) c.11948T>A (p.Leu3983Gln) | |
| 19 | g.38543814T>C | CA405662849 | RYR1 | c.361T>C c.343T>C c.11951T>C (p.Leu3984Pro) c.11936T>C (p.Leu3979Pro) c.11933T>C (p.Leu3978Pro) c.560T>C c.5320T>C c.11918T>C (p.Leu3973Pro) c.11948T>C (p.Leu3983Pro) | |
| 19 | g.38543814T>G | CA405662850 | RYR1 | c.361T>G c.343T>G c.11951T>G (p.Leu3984Arg) c.11936T>G (p.Leu3979Arg) c.11933T>G (p.Leu3978Arg) c.560T>G c.5320T>G c.11918T>G (p.Leu3973Arg) c.11948T>G (p.Leu3983Arg) | |
| 19 | g.38543815A= | CA2335074537 | RYR1 | c.362A= c.344A= c.11952A= (p.Leu3984=) c.11937A= (p.Leu3979=) c.11934A= (p.Leu3978=) c.561A= c.5321A= c.11919A= (p.Leu3973=) c.11949A= (p.Leu3983=) | |
| 19 | g.38543815A>C | CA308092405 | RYR1 | c.362A>C c.344A>C c.11952A>C (p.Leu3984=) c.11937A>C (p.Leu3979=) c.11934A>C (p.Leu3978=) c.561A>C c.5321A>C c.11919A>C (p.Leu3973=) c.11949A>C (p.Leu3983=) | dbSNP |
| 19 | g.38543815A>G | CA057950 | RYR1 | c.362A>G c.344A>G c.11952A>G (p.Leu3984=) c.11937A>G (p.Leu3979=) c.11934A>G (p.Leu3978=) c.561A>G c.5321A>G c.11919A>G (p.Leu3973=) c.11949A>G (p.Leu3983=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543815A>T | CA507242634 | RYR1 | c.362A>T c.344A>T c.11952A>T (p.Leu3984=) c.11937A>T (p.Leu3979=) c.11934A>T (p.Leu3978=) c.561A>T c.5321A>T c.11919A>T (p.Leu3973=) c.11949A>T (p.Leu3983=) | |
| 19 | g.38543816T>A | CA405662852 | RYR1 | c.363T>A c.345T>A c.11953T>A (p.Trp3985Arg) c.11938T>A (p.Trp3980Arg) c.11935T>A (p.Trp3979Arg) c.562T>A c.5322T>A c.11920T>A (p.Trp3974Arg) c.11950T>A (p.Trp3984Arg) | |
| 19 | g.38543816T>C | CA023949 | RYR1 | c.363T>C c.345T>C c.11953T>C (p.Trp3985Arg) c.11938T>C (p.Trp3980Arg) c.11935T>C (p.Trp3979Arg) c.562T>C c.5322T>C c.11920T>C (p.Trp3974Arg) c.11950T>C (p.Trp3984Arg) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38543816T>G | CA405662851 | RYR1 | c.363T>G c.345T>G c.11953T>G (p.Trp3985Gly) c.11938T>G (p.Trp3980Gly) c.11935T>G (p.Trp3979Gly) c.562T>G c.5322T>G c.11920T>G (p.Trp3974Gly) c.11950T>G (p.Trp3984Gly) | |
| 19 | g.38543816T= | CA2335074538 | RYR1 | c.363T= c.345T= c.11953T= (p.Trp3985=) c.11938T= (p.Trp3980=) c.11935T= (p.Trp3979=) c.562T= c.5322T= c.11920T= (p.Trp3974=) c.11950T= (p.Trp3984=) | |
| 19 | g.38543817G>A | CA405662853 | RYR1 | c.364G>A c.346G>A c.11954G>A (p.Trp3985Ter) c.11939G>A (p.Trp3980Ter) c.11936G>A (p.Trp3979Ter) c.563G>A c.5323G>A c.11921G>A (p.Trp3974Ter) c.11951G>A (p.Trp3984Ter) | ClinVar gnomAD v4 |
| 19 | g.38543817G>C | CA405662854 | RYR1 | c.364G>C c.346G>C c.11954G>C (p.Trp3985Ser) c.11939G>C (p.Trp3980Ser) c.11936G>C (p.Trp3979Ser) c.563G>C c.5323G>C c.11921G>C (p.Trp3974Ser) c.11951G>C (p.Trp3984Ser) | |
| 19 | g.38543817G>T | CA405662855 | RYR1 | c.364G>T c.346G>T c.11954G>T (p.Trp3985Leu) c.11939G>T (p.Trp3980Leu) c.11936G>T (p.Trp3979Leu) c.563G>T c.5323G>T c.11921G>T (p.Trp3974Leu) c.11951G>T (p.Trp3984Leu) | |
| 19 | g.38543819del | CA2739276752 | RYR1 | c.366del c.348del c.11956del (p.Asp3986ThrfsTer13) c.11941del (p.Asp3981ThrfsTer13) c.11938del (p.Asp3980ThrfsTer13) c.565del c.5325del c.11923del (p.Asp3975ThrfsTer13) c.11953del (p.Asp3985ThrfsTer13) | ClinVar |
| 19 | g.38543818G>A | CA405662856 | RYR1 | c.365G>A c.347G>A c.11955G>A (p.Trp3985Ter) c.11940G>A (p.Trp3980Ter) c.11937G>A (p.Trp3979Ter) c.564G>A c.5324G>A c.11922G>A (p.Trp3974Ter) c.11952G>A (p.Trp3984Ter) | |
| 19 | g.38543818G>C | CA405662857 | RYR1 | c.365G>C c.347G>C c.11955G>C (p.Trp3985Cys) c.11940G>C (p.Trp3980Cys) c.11937G>C (p.Trp3979Cys) c.564G>C c.5324G>C c.11922G>C (p.Trp3974Cys) c.11952G>C (p.Trp3984Cys) | dbSNP |
| 19 | g.38543818G= | CA2335074539 | RYR1 | c.365G= c.347G= c.11955G= (p.Trp3985=) c.11940G= (p.Trp3980=) c.11937G= (p.Trp3979=) c.564G= c.5324G= c.11922G= (p.Trp3974=) c.11952G= (p.Trp3984=) | |
| 19 | g.38543818G>T | CA405662858 | RYR1 | c.365G>T c.347G>T c.11955G>T (p.Trp3985Cys) c.11940G>T (p.Trp3980Cys) c.11937G>T (p.Trp3979Cys) c.564G>T c.5324G>T c.11922G>T (p.Trp3974Cys) c.11952G>T (p.Trp3984Cys) | |
| 19 | g.38543819G>A | CA405662859 | RYR1 | c.366G>A c.348G>A c.11956G>A (p.Asp3986Asn) c.11941G>A (p.Asp3981Asn) c.11938G>A (p.Asp3980Asn) c.565G>A c.5325G>A c.11923G>A (p.Asp3975Asn) c.11953G>A (p.Asp3985Asn) | |
| 19 | g.38543819G>C | CA080497 | RYR1 | c.366G>C c.348G>C c.11956G>C (p.Asp3986His) c.11941G>C (p.Asp3981His) c.11938G>C (p.Asp3980His) c.565G>C c.5325G>C c.11923G>C (p.Asp3975His) c.11953G>C (p.Asp3985His) | |
| 19 | g.38543819G>T | CA405662860 | RYR1 | c.366G>T c.348G>T c.11956G>T (p.Asp3986Tyr) c.11941G>T (p.Asp3981Tyr) c.11938G>T (p.Asp3980Tyr) c.565G>T c.5325G>T c.11923G>T (p.Asp3975Tyr) c.11953G>T (p.Asp3985Tyr) | |
| 19 | g.38543820A>C | CA405662861 | RYR1 | c.367A>C c.349A>C c.11957A>C (p.Asp3986Ala) c.11942A>C (p.Asp3981Ala) c.11939A>C (p.Asp3980Ala) c.566A>C c.5326A>C c.11924A>C (p.Asp3975Ala) c.11954A>C (p.Asp3985Ala) | |
| 19 | g.38543820A>G | CA405662862 | RYR1 | c.367A>G c.349A>G c.11957A>G (p.Asp3986Gly) c.11942A>G (p.Asp3981Gly) c.11939A>G (p.Asp3980Gly) c.566A>G c.5326A>G c.11924A>G (p.Asp3975Gly) c.11954A>G (p.Asp3985Gly) | |
| 19 | g.38543820A>T | CA405662863 | RYR1 | c.367A>T c.349A>T c.11957A>T (p.Asp3986Val) c.11942A>T (p.Asp3981Val) c.11939A>T (p.Asp3980Val) c.566A>T c.5326A>T c.11924A>T (p.Asp3975Val) c.11954A>T (p.Asp3985Val) | |
| 19 | g.38543821C>A | CA405662864 | RYR1 | c.368C>A c.350C>A c.11958C>A (p.Asp3986Glu) c.11943C>A (p.Asp3981Glu) c.11940C>A (p.Asp3980Glu) c.567C>A c.5327C>A c.11925C>A (p.Asp3975Glu) c.11955C>A (p.Asp3985Glu) | |
| 19 | g.38543821C= | CA2335074540 | RYR1 | c.368C= c.350C= c.11958C= (p.Asp3986=) c.11943C= (p.Asp3981=) c.11940C= (p.Asp3980=) c.567C= c.5327C= c.11925C= (p.Asp3975=) c.11955C= (p.Asp3985=) | |
| 19 | g.38543821C>G | CA023951 | RYR1 | c.368C>G c.350C>G c.11958C>G (p.Asp3986Glu) c.11943C>G (p.Asp3981Glu) c.11940C>G (p.Asp3980Glu) c.567C>G c.5327C>G c.11925C>G (p.Asp3975Glu) c.11955C>G (p.Asp3985Glu) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38543821C>T | CA507242642 | RYR1 | c.368C>T c.350C>T c.11958C>T (p.Asp3986=) c.11943C>T (p.Asp3981=) c.11940C>T (p.Asp3980=) c.567C>T c.5327C>T c.11925C>T (p.Asp3975=) c.11955C>T (p.Asp3985=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543822G>A | CA405662865 | RYR1 | c.369G>A c.351G>A c.11959G>A (p.Ala3987Thr) c.11944G>A (p.Ala3982Thr) c.11941G>A (p.Ala3981Thr) c.568G>A c.5328G>A c.11926G>A (p.Ala3976Thr) c.11956G>A (p.Ala3986Thr) | |
| 19 | g.38543822G>C | CA405662866 | RYR1 | c.369G>C c.351G>C c.11959G>C (p.Ala3987Pro) c.11944G>C (p.Ala3982Pro) c.11941G>C (p.Ala3981Pro) c.568G>C c.5328G>C c.11926G>C (p.Ala3976Pro) c.11956G>C (p.Ala3986Pro) | |
| 19 | g.38543822G>T | CA405662867 | RYR1 | c.369G>T c.351G>T c.11959G>T (p.Ala3987Ser) c.11944G>T (p.Ala3982Ser) c.11941G>T (p.Ala3981Ser) c.568G>T c.5328G>T c.11926G>T (p.Ala3976Ser) c.11956G>T (p.Ala3986Ser) | |
| 19 | g.38543823C>A | CA405662868 | RYR1 | c.370C>A c.352C>A c.11960C>A (p.Ala3987Glu) c.11945C>A (p.Ala3982Glu) c.11942C>A (p.Ala3981Glu) c.569C>A c.5329C>A c.11927C>A (p.Ala3976Glu) c.11957C>A (p.Ala3986Glu) | |
| 19 | g.38543823C>G | CA405662869 | RYR1 | c.370C>G c.352C>G c.11960C>G (p.Ala3987Gly) c.11945C>G (p.Ala3982Gly) c.11942C>G (p.Ala3981Gly) c.569C>G c.5329C>G c.11927C>G (p.Ala3976Gly) c.11957C>G (p.Ala3986Gly) | |
| 19 | g.38543823C>T | CA080502 | RYR1 | c.370C>T c.352C>T c.11960C>T (p.Ala3987Val) c.11945C>T (p.Ala3982Val) c.11942C>T (p.Ala3981Val) c.569C>T c.5329C>T c.11927C>T (p.Ala3976Val) c.11957C>T (p.Ala3986Val) | |
| 19 | g.38543824A>C | CA507242643 | RYR1 | c.371A>C c.353A>C c.11961A>C (p.Ala3987=) c.11946A>C (p.Ala3982=) c.11943A>C (p.Ala3981=) c.570A>C c.5330A>C c.11928A>C (p.Ala3976=) c.11958A>C (p.Ala3986=) | ClinVar |
| 19 | g.38543824A>G | CA507242644 | RYR1 | c.371A>G c.353A>G c.11961A>G (p.Ala3987=) c.11946A>G (p.Ala3982=) c.11943A>G (p.Ala3981=) c.570A>G c.5330A>G c.11928A>G (p.Ala3976=) c.11958A>G (p.Ala3986=) | |
| 19 | g.38543824A>T | CA507242645 | RYR1 | c.371A>T c.353A>T c.11961A>T (p.Ala3987=) c.11946A>T (p.Ala3982=) c.11943A>T (p.Ala3981=) c.570A>T c.5330A>T c.11928A>T (p.Ala3976=) c.11958A>T (p.Ala3986=) | |
| 19 | g.38543825G>A | CA405662870 | RYR1 | c.372G>A c.354G>A c.11962G>A (p.Val3988Met) c.11947G>A (p.Val3983Met) c.11944G>A (p.Val3982Met) c.571G>A c.5331G>A c.11929G>A (p.Val3977Met) c.11959G>A (p.Val3987Met) | |
| 19 | g.38543825G>C | CA405662871 | RYR1 | c.372G>C c.354G>C c.11962G>C (p.Val3988Leu) c.11947G>C (p.Val3983Leu) c.11944G>C (p.Val3982Leu) c.571G>C c.5331G>C c.11929G>C (p.Val3977Leu) c.11959G>C (p.Val3987Leu) | |
| 19 | g.38543825G>T | CA405662872 | RYR1 | c.372G>T c.354G>T c.11962G>T (p.Val3988Leu) c.11947G>T (p.Val3983Leu) c.11944G>T (p.Val3982Leu) c.571G>T c.5331G>T c.11929G>T (p.Val3977Leu) c.11959G>T (p.Val3987Leu) | |
| 19 | g.38543826T>A | CA405662873 | RYR1 | c.373T>A c.355T>A c.11963T>A (p.Val3988Glu) c.11948T>A (p.Val3983Glu) c.11945T>A (p.Val3982Glu) c.572T>A c.5332T>A c.11930T>A (p.Val3977Glu) c.11960T>A (p.Val3987Glu) | |
| 19 | g.38543826T>C | CA405662874 | RYR1 | c.373T>C c.355T>C c.11963T>C (p.Val3988Ala) c.11948T>C (p.Val3983Ala) c.11945T>C (p.Val3982Ala) c.572T>C c.5332T>C c.11930T>C (p.Val3977Ala) c.11960T>C (p.Val3987Ala) | |
| 19 | g.38543826T>G | CA405662875 | RYR1 | c.373T>G c.355T>G c.11963T>G (p.Val3988Gly) c.11948T>G (p.Val3983Gly) c.11945T>G (p.Val3982Gly) c.572T>G c.5332T>G c.11930T>G (p.Val3977Gly) c.11960T>G (p.Val3987Gly) | |
| 19 | g.38543827G>A | CA507242651 | RYR1 | c.374G>A c.356G>A c.11964G>A (p.Val3988=) c.11949G>A (p.Val3983=) c.11946G>A (p.Val3982=) c.573G>A c.5333G>A c.11931G>A (p.Val3977=) c.11961G>A (p.Val3987=) | |
| 19 | g.38543827G>C | CA507242649 | RYR1 | c.374G>C c.356G>C c.11964G>C (p.Val3988=) c.11949G>C (p.Val3983=) c.11946G>C (p.Val3982=) c.573G>C c.5333G>C c.11931G>C (p.Val3977=) c.11961G>C (p.Val3987=) | |
| 19 | g.38543827G>T | CA507242650 | RYR1 | c.374G>T c.356G>T c.11964G>T (p.Val3988=) c.11949G>T (p.Val3983=) c.11946G>T (p.Val3982=) c.573G>T c.5333G>T c.11931G>T (p.Val3977=) c.11961G>T (p.Val3987=) | |
| 19 | g.38543828G>A | CA057954 | RYR1 | c.375G>A c.357G>A c.11965G>A (p.Val3989Met) c.11950G>A (p.Val3984Met) c.11947G>A (p.Val3983Met) c.574G>A c.5334G>A c.11932G>A (p.Val3978Met) c.11962G>A (p.Val3988Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38543828G>C | CA405662877 | RYR1 | c.375G>C c.357G>C c.11965G>C (p.Val3989Leu) c.11950G>C (p.Val3984Leu) c.11947G>C (p.Val3983Leu) c.574G>C c.5334G>C c.11932G>C (p.Val3978Leu) c.11962G>C (p.Val3988Leu) | |
| 19 | g.38543828G= | CA2335074541 | RYR1 | c.375G= c.357G= c.11965G= (p.Val3989=) c.11950G= (p.Val3984=) c.11947G= (p.Val3983=) c.574G= c.5334G= c.11932G= (p.Val3978=) c.11962G= (p.Val3988=) | |
| 19 | g.38543828G>T | CA405662876 | RYR1 | c.375G>T c.357G>T c.11965G>T (p.Val3989Leu) c.11950G>T (p.Val3984Leu) c.11947G>T (p.Val3983Leu) c.574G>T c.5334G>T c.11932G>T (p.Val3978Leu) c.11962G>T (p.Val3988Leu) | |
| 19 | g.38543829T>A | CA405662878 | RYR1 | c.376T>A c.358T>A c.11966T>A (p.Val3989Glu) c.11951T>A (p.Val3984Glu) c.11948T>A (p.Val3983Glu) c.575T>A c.5335T>A c.11933T>A (p.Val3978Glu) c.11963T>A (p.Val3988Glu) | |
| 19 | g.38543829T>C | CA405662881 | RYR1 | c.376T>C c.358T>C c.11966T>C (p.Val3989Ala) c.11951T>C (p.Val3984Ala) c.11948T>C (p.Val3983Ala) c.575T>C c.5335T>C c.11933T>C (p.Val3978Ala) c.11963T>C (p.Val3988Ala) | |
| 19 | g.38543829T>G | CA405662879 | RYR1 | c.376T>G c.358T>G c.11966T>G (p.Val3989Gly) c.11951T>G (p.Val3984Gly) c.11948T>G (p.Val3983Gly) c.575T>G c.5335T>G c.11933T>G (p.Val3978Gly) c.11963T>G (p.Val3988Gly) | |
| 19 | g.38543830G>A | CA507242653 | RYR1 | c.377G>A c.359G>A c.11967G>A (p.Val3989=) c.11952G>A (p.Val3984=) c.11949G>A (p.Val3983=) c.576G>A c.5336G>A c.11934G>A (p.Val3978=) c.11964G>A (p.Val3988=) | |
| 19 | g.38543830G>C | CA507242654 | RYR1 | c.377G>C c.359G>C c.11967G>C (p.Val3989=) c.11952G>C (p.Val3984=) c.11949G>C (p.Val3983=) c.576G>C c.5336G>C c.11934G>C (p.Val3978=) c.11964G>C (p.Val3988=) | |
| 19 | g.38543830G>T | CA507242655 | RYR1 | c.377G>T c.359G>T c.11967G>T (p.Val3989=) c.11952G>T (p.Val3984=) c.11949G>T (p.Val3983=) c.576G>T c.5336G>T c.11934G>T (p.Val3978=) c.11964G>T (p.Val3988=) | |
| 19 | g.38543831G>A | CA080542 | RYR1 | c.378G>A c.360G>A c.11968G>A (p.Gly3990Arg) c.11953G>A (p.Gly3985Arg) c.11950G>A (p.Gly3984Arg) c.577G>A c.5337G>A c.11935G>A (p.Gly3979Arg) c.11965G>A (p.Gly3989Arg) | |
| 19 | g.38543831G>C | CA405662885 | RYR1 | c.378G>C c.360G>C c.11968G>C (p.Gly3990Arg) c.11953G>C (p.Gly3985Arg) c.11950G>C (p.Gly3984Arg) c.577G>C c.5337G>C c.11935G>C (p.Gly3979Arg) c.11965G>C (p.Gly3989Arg) | |
| 19 | g.38543831G>T | CA405662884 | RYR1 | c.378G>T c.360G>T c.11968G>T (p.Gly3990Ter) c.11953G>T (p.Gly3985Ter) c.11950G>T (p.Gly3984Ter) c.577G>T c.5337G>T c.11935G>T (p.Gly3979Ter) c.11965G>T (p.Gly3989Ter) | |
| 19 | g.38543832G>A | CA405662887 | RYR1 | c.379G>A c.361G>A c.11969G>A (p.Gly3990Glu) c.11954G>A (p.Gly3985Glu) c.11951G>A (p.Gly3984Glu) c.578G>A c.5338G>A c.11936G>A (p.Gly3979Glu) c.11966G>A (p.Gly3989Glu) | |
| 19 | g.38543832G>C | CA405662889 | RYR1 | c.379G>C c.361G>C c.11969G>C (p.Gly3990Ala) c.11954G>C (p.Gly3985Ala) c.11951G>C (p.Gly3984Ala) c.578G>C c.5338G>C c.11936G>C (p.Gly3979Ala) c.11966G>C (p.Gly3989Ala) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38543832G= | CA2335074542 | RYR1 | c.379G= c.361G= c.11969G= (p.Gly3990=) c.11954G= (p.Gly3985=) c.11951G= (p.Gly3984=) c.578G= c.5338G= c.11936G= (p.Gly3979=) c.11966G= (p.Gly3989=) | |
| 19 | g.38543832G>T | CA023953 | RYR1 | c.379G>T c.361G>T c.11969G>T (p.Gly3990Val) c.11954G>T (p.Gly3985Val) c.11951G>T (p.Gly3984Val) c.578G>T c.5338G>T c.11936G>T (p.Gly3979Val) c.11966G>T (p.Gly3989Val) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38543833A>C | CA507242661 | RYR1 | c.380A>C c.362A>C c.11970A>C (p.Gly3990=) c.11955A>C (p.Gly3985=) c.11952A>C (p.Gly3984=) c.579A>C c.5339A>C c.11937A>C (p.Gly3979=) c.11967A>C (p.Gly3989=) | |
| 19 | g.38543833A>G | CA507242659 | RYR1 | c.380A>G c.362A>G c.11970A>G (p.Gly3990=) c.11955A>G (p.Gly3985=) c.11952A>G (p.Gly3984=) c.579A>G c.5339A>G c.11937A>G (p.Gly3979=) c.11967A>G (p.Gly3989=) | |
| 19 | g.38543833A>T | CA507242662 | RYR1 | c.380A>T c.362A>T c.11970A>T (p.Gly3990=) c.11955A>T (p.Gly3985=) c.11952A>T (p.Gly3984=) c.579A>T c.5339A>T c.11937A>T (p.Gly3979=) c.11967A>T (p.Gly3989=) | |
| 19 | g.38543834T>A | CA405662891 | RYR1 | c.381T>A c.363T>A c.11971T>A (p.Phe3991Ile) c.11956T>A (p.Phe3986Ile) c.11953T>A (p.Phe3985Ile) c.580T>A c.5340T>A c.11938T>A (p.Phe3980Ile) c.11968T>A (p.Phe3990Ile) | |
| 19 | g.38543834T>C | CA405662893 | RYR1 | c.381T>C c.363T>C c.11971T>C (p.Phe3991Leu) c.11956T>C (p.Phe3986Leu) c.11953T>C (p.Phe3985Leu) c.580T>C c.5340T>C c.11938T>C (p.Phe3980Leu) c.11968T>C (p.Phe3990Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543834T>G | CA405662895 | RYR1 | c.381T>G c.363T>G c.11971T>G (p.Phe3991Val) c.11956T>G (p.Phe3986Val) c.11953T>G (p.Phe3985Val) c.580T>G c.5340T>G c.11938T>G (p.Phe3980Val) c.11968T>G (p.Phe3990Val) | |
| 19 | g.38543834T= | CA2335074543 | RYR1 | c.381T= c.363T= c.11971T= (p.Phe3991=) c.11956T= (p.Phe3986=) c.11953T= (p.Phe3985=) c.580T= c.5340T= c.11938T= (p.Phe3980=) c.11968T= (p.Phe3990=) | |
| 19 | g.38543835T>A | CA405662897 | RYR1 | c.382T>A c.364T>A c.11972T>A (p.Phe3991Tyr) c.11957T>A (p.Phe3986Tyr) c.11954T>A (p.Phe3985Tyr) c.581T>A c.5341T>A c.11939T>A (p.Phe3980Tyr) c.11969T>A (p.Phe3990Tyr) | |
| 19 | g.38543835T>C | CA405662898 | RYR1 | c.382T>C c.364T>C c.11972T>C (p.Phe3991Ser) c.11957T>C (p.Phe3986Ser) c.11954T>C (p.Phe3985Ser) c.581T>C c.5341T>C c.11939T>C (p.Phe3980Ser) c.11969T>C (p.Phe3990Ser) | gnomAD v4 |
| 19 | g.38543835T>G | CA405662900 | RYR1 | c.382T>G c.364T>G c.11972T>G (p.Phe3991Cys) c.11957T>G (p.Phe3986Cys) c.11954T>G (p.Phe3985Cys) c.581T>G c.5341T>G c.11939T>G (p.Phe3980Cys) c.11969T>G (p.Phe3990Cys) | |
| 19 | g.38543836C>A | CA405662902 | RYR1 | c.383C>A c.365C>A c.11973C>A (p.Phe3991Leu) c.11958C>A (p.Phe3986Leu) c.11955C>A (p.Phe3985Leu) c.582C>A c.5342C>A c.11940C>A (p.Phe3980Leu) c.11970C>A (p.Phe3990Leu) | |
| 19 | g.38543836C>G | CA405662903 | RYR1 | c.383C>G c.365C>G c.11973C>G (p.Phe3991Leu) c.11958C>G (p.Phe3986Leu) c.11955C>G (p.Phe3985Leu) c.582C>G c.5342C>G c.11940C>G (p.Phe3980Leu) c.11970C>G (p.Phe3990Leu) | |
| 19 | g.38543836C>T | CA507242666 | RYR1 | c.383C>T c.365C>T c.11973C>T (p.Phe3991=) c.11958C>T (p.Phe3986=) c.11955C>T (p.Phe3985=) c.582C>T c.5342C>T c.11940C>T (p.Phe3980=) c.11970C>T (p.Phe3990=) | |
| 19 | g.38543837C>A | CA405662905 | RYR1 | c.384C>A c.366C>A c.11974C>A (p.Leu3992Met) c.11959C>A (p.Leu3987Met) c.11956C>A (p.Leu3986Met) c.583C>A c.5343C>A c.11941C>A (p.Leu3981Met) c.11971C>A (p.Leu3991Met) | |
| 19 | g.38543837C>G | CA405662904 | RYR1 | c.384C>G c.366C>G c.11974C>G (p.Leu3992Val) c.11959C>G (p.Leu3987Val) c.11956C>G (p.Leu3986Val) c.583C>G c.5343C>G c.11941C>G (p.Leu3981Val) c.11971C>G (p.Leu3991Val) | |
| 19 | g.38543837C>T | CA507242670 | RYR1 | c.384C>T c.366C>T c.11974C>T (p.Leu3992=) c.11959C>T (p.Leu3987=) c.11956C>T (p.Leu3986=) c.583C>T c.5343C>T c.11941C>T (p.Leu3981=) c.11971C>T (p.Leu3991=) | COSMIC |
| 19 | g.38543838T>A | CA405662906 | RYR1 | c.385T>A c.367T>A c.11975T>A (p.Leu3992Gln) c.11960T>A (p.Leu3987Gln) c.11957T>A (p.Leu3986Gln) c.584T>A c.5344T>A c.11942T>A (p.Leu3981Gln) c.11972T>A (p.Leu3991Gln) | |
| 19 | g.38543838T>C | CA405662908 | RYR1 | c.385T>C c.367T>C c.11975T>C (p.Leu3992Pro) c.11960T>C (p.Leu3987Pro) c.11957T>C (p.Leu3986Pro) c.584T>C c.5344T>C c.11942T>C (p.Leu3981Pro) c.11972T>C (p.Leu3991Pro) | |
| 19 | g.38543838T>G | CA405662910 | RYR1 | c.385T>G c.367T>G c.11975T>G (p.Leu3992Arg) c.11960T>G (p.Leu3987Arg) c.11957T>G (p.Leu3986Arg) c.584T>G c.5344T>G c.11942T>G (p.Leu3981Arg) c.11972T>G (p.Leu3991Arg) | |
| 19 | g.38543839G>A | CA507242671 | RYR1 | c.386G>A c.368G>A c.11976G>A (p.Leu3992=) c.11961G>A (p.Leu3987=) c.11958G>A (p.Leu3986=) c.585G>A c.5345G>A c.11943G>A (p.Leu3981=) c.11973G>A (p.Leu3991=) | gnomAD v4 |
| 19 | g.38543839G>C | CA507242672 | RYR1 | c.386G>C c.368G>C c.11976G>C (p.Leu3992=) c.11961G>C (p.Leu3987=) c.11958G>C (p.Leu3986=) c.585G>C c.5345G>C c.11943G>C (p.Leu3981=) c.11973G>C (p.Leu3991=) | |
| 19 | g.38543839G>T | CA507242673 | RYR1 | c.386G>T c.368G>T c.11976G>T (p.Leu3992=) c.11961G>T (p.Leu3987=) c.11958G>T (p.Leu3986=) c.585G>T c.5345G>T c.11943G>T (p.Leu3981=) c.11973G>T (p.Leu3991=) | |
| 19 | g.38543840C>A | CA405662912 | RYR1 | c.387C>A c.369C>A c.11977C>A (p.His3993Asn) c.11962C>A (p.His3988Asn) c.11959C>A (p.His3987Asn) c.586C>A c.5346C>A c.11944C>A (p.His3982Asn) c.11974C>A (p.His3992Asn) | |
| 19 | g.38543840C>G | CA405662913 | RYR1 | c.387C>G c.369C>G c.11977C>G (p.His3993Asp) c.11962C>G (p.His3988Asp) c.11959C>G (p.His3987Asp) c.586C>G c.5346C>G c.11944C>G (p.His3982Asp) c.11974C>G (p.His3992Asp) | |
| 19 | g.38543840C>T | CA405662915 | RYR1 | c.387C>T c.369C>T c.11977C>T (p.His3993Tyr) c.11962C>T (p.His3988Tyr) c.11959C>T (p.His3987Tyr) c.586C>T c.5346C>T c.11944C>T (p.His3982Tyr) c.11974C>T (p.His3992Tyr) | |
| 19 | g.38543841A>C | CA405662917 | RYR1 | c.388A>C c.370A>C c.11978A>C (p.His3993Pro) c.11963A>C (p.His3988Pro) c.11960A>C (p.His3987Pro) c.587A>C c.5347A>C c.11945A>C (p.His3982Pro) c.11975A>C (p.His3992Pro) | |
| 19 | g.38543841A>G | CA405662919 | RYR1 | c.388A>G c.370A>G c.11978A>G (p.His3993Arg) c.11963A>G (p.His3988Arg) c.11960A>G (p.His3987Arg) c.587A>G c.5347A>G c.11945A>G (p.His3982Arg) c.11975A>G (p.His3992Arg) | |
| 19 | g.38543841A>T | CA405662920 | RYR1 | c.388A>T c.370A>T c.11978A>T (p.His3993Leu) c.11963A>T (p.His3988Leu) c.11960A>T (p.His3987Leu) c.587A>T c.5347A>T c.11945A>T (p.His3982Leu) c.11975A>T (p.His3992Leu) | |
| 19 | g.38543842C>A | CA405662921 | RYR1 | c.389C>A c.371C>A c.11979C>A (p.His3993Gln) c.11964C>A (p.His3988Gln) c.11961C>A (p.His3987Gln) c.588C>A c.5348C>A c.11946C>A (p.His3982Gln) c.11976C>A (p.His3992Gln) | gnomAD v4 |
| 19 | g.38543842C= | CA2335074544 | RYR1 | c.389C= c.371C= c.11979C= (p.His3993=) c.11964C= (p.His3988=) c.11961C= (p.His3987=) c.588C= c.5348C= c.11946C= (p.His3982=) c.11976C= (p.His3992=) | |
| 19 | g.38543842C>G | CA405662923 | RYR1 | c.389C>G c.371C>G c.11979C>G (p.His3993Gln) c.11964C>G (p.His3988Gln) c.11961C>G (p.His3987Gln) c.588C>G c.5348C>G c.11946C>G (p.His3982Gln) c.11976C>G (p.His3992Gln) | |
| 19 | g.38543842C>T | CA507242677 | RYR1 | c.389C>T c.371C>T c.11979C>T (p.His3993=) c.11964C>T (p.His3988=) c.11961C>T (p.His3987=) c.588C>T c.5348C>T c.11946C>T (p.His3982=) c.11976C>T (p.His3992=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.38543843G>A | CA405662927 | RYR1 | c.390G>A c.372G>A c.11980G>A (p.Val3994Met) c.11965G>A (p.Val3989Met) c.11962G>A (p.Val3988Met) c.589G>A c.5349G>A c.11947G>A (p.Val3983Met) c.11977G>A (p.Val3993Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543843G>C | CA405662928 | RYR1 | c.390G>C c.372G>C c.11980G>C (p.Val3994Leu) c.11965G>C (p.Val3989Leu) c.11962G>C (p.Val3988Leu) c.589G>C c.5349G>C c.11947G>C (p.Val3983Leu) c.11977G>C (p.Val3993Leu) | |
| 19 | g.38543843G= | CA2335074545 | RYR1 | c.390G= c.372G= c.11980G= (p.Val3994=) c.11965G= (p.Val3989=) c.11962G= (p.Val3988=) c.589G= c.5349G= c.11947G= (p.Val3983=) c.11977G= (p.Val3993=) | |
| 19 | g.38543843G>T | CA405662925 | RYR1 | c.390G>T c.372G>T c.11980G>T (p.Val3994Leu) c.11965G>T (p.Val3989Leu) c.11962G>T (p.Val3988Leu) c.589G>T c.5349G>T c.11947G>T (p.Val3983Leu) c.11977G>T (p.Val3993Leu) | |
| 19 | g.38543844T>A | CA405662930 | RYR1 | c.391T>A c.373T>A c.11981T>A (p.Val3994Glu) c.11966T>A (p.Val3989Glu) c.11963T>A (p.Val3988Glu) c.590T>A c.5350T>A c.11948T>A (p.Val3983Glu) c.11978T>A (p.Val3993Glu) | |
| 19 | g.38543844T>C | CA405662932 | RYR1 | c.391T>C c.373T>C c.11981T>C (p.Val3994Ala) c.11966T>C (p.Val3989Ala) c.11963T>C (p.Val3988Ala) c.590T>C c.5350T>C c.11948T>C (p.Val3983Ala) c.11978T>C (p.Val3993Ala) | dbSNP |
| 19 | g.38543844T>G | CA405662934 | RYR1 | c.391T>G c.373T>G c.11981T>G (p.Val3994Gly) c.11966T>G (p.Val3989Gly) c.11963T>G (p.Val3988Gly) c.590T>G c.5350T>G c.11948T>G (p.Val3983Gly) c.11978T>G (p.Val3993Gly) | |
| 19 | g.38543844T= | CA2335074546 | RYR1 | c.391T= c.373T= c.11981T= (p.Val3994=) c.11966T= (p.Val3989=) c.11963T= (p.Val3988=) c.590T= c.5350T= c.11948T= (p.Val3983=) c.11978T= (p.Val3993=) | |
| 19 | g.38543845G>A | CA507242684 | RYR1 | c.392G>A c.374G>A c.11982G>A (p.Val3994=) c.11967G>A (p.Val3989=) c.11964G>A (p.Val3988=) c.591G>A c.5351G>A c.11949G>A (p.Val3983=) c.11979G>A (p.Val3993=) | gnomAD v4 |
| 19 | g.38543845G>C | CA507242685 | RYR1 | c.392G>C c.374G>C c.11982G>C (p.Val3994=) c.11967G>C (p.Val3989=) c.11964G>C (p.Val3988=) c.591G>C c.5351G>C c.11949G>C (p.Val3983=) c.11979G>C (p.Val3993=) | |
| 19 | g.38543845G>T | CA507242686 | RYR1 | c.392G>T c.374G>T c.11982G>T (p.Val3994=) c.11967G>T (p.Val3989=) c.11964G>T (p.Val3988=) c.591G>T c.5351G>T c.11949G>T (p.Val3983=) c.11979G>T (p.Val3993=) | |
| 19 | g.38543846T>A | CA405662936 | RYR1 | c.393T>A c.375T>A c.11983T>A (p.Phe3995Ile) c.11968T>A (p.Phe3990Ile) c.11965T>A (p.Phe3989Ile) c.592T>A c.5352T>A c.11950T>A (p.Phe3984Ile) c.11980T>A (p.Phe3994Ile) | |
| 19 | g.38543846T>C | CA405662938 | RYR1 | c.393T>C c.375T>C c.11983T>C (p.Phe3995Leu) c.11968T>C (p.Phe3990Leu) c.11965T>C (p.Phe3989Leu) c.592T>C c.5352T>C c.11950T>C (p.Phe3984Leu) c.11980T>C (p.Phe3994Leu) | |
| 19 | g.38543846T>G | CA405662940 | RYR1 | c.393T>G c.375T>G c.11983T>G (p.Phe3995Val) c.11968T>G (p.Phe3990Val) c.11965T>G (p.Phe3989Val) c.592T>G c.5352T>G c.11950T>G (p.Phe3984Val) c.11980T>G (p.Phe3994Val) | |
| 19 | g.38543847T>A | CA405662945 | RYR1 | c.394T>A c.376T>A c.11984T>A (p.Phe3995Tyr) c.11969T>A (p.Phe3990Tyr) c.11966T>A (p.Phe3989Tyr) c.593T>A c.5353T>A c.11951T>A (p.Phe3984Tyr) c.11981T>A (p.Phe3994Tyr) | |
| 19 | g.38543847T>C | CA405662942 | RYR1 | c.394T>C c.376T>C c.11984T>C (p.Phe3995Ser) c.11969T>C (p.Phe3990Ser) c.11966T>C (p.Phe3989Ser) c.593T>C c.5353T>C c.11951T>C (p.Phe3984Ser) c.11981T>C (p.Phe3994Ser) | |
| 19 | g.38543847T>G | CA405662943 | RYR1 | c.394T>G c.376T>G c.11984T>G (p.Phe3995Cys) c.11969T>G (p.Phe3990Cys) c.11966T>G (p.Phe3989Cys) c.593T>G c.5353T>G c.11951T>G (p.Phe3984Cys) c.11981T>G (p.Phe3994Cys) | |
| 19 | g.38543848C>A | CA405662948 | RYR1 | c.395C>A c.377C>A c.11985C>A (p.Phe3995Leu) c.11970C>A (p.Phe3990Leu) c.11967C>A (p.Phe3989Leu) c.594C>A c.5354C>A c.11952C>A (p.Phe3984Leu) c.11982C>A (p.Phe3994Leu) | COSMIC |
| 19 | g.38543848C= | CA2335074547 | RYR1 | c.395C= c.377C= c.11985C= (p.Phe3995=) c.11970C= (p.Phe3990=) c.11967C= (p.Phe3989=) c.594C= c.5354C= c.11952C= (p.Phe3984=) c.11982C= (p.Phe3994=) | |
| 19 | g.38543848C>G | CA057962 | RYR1 | c.395C>G c.377C>G c.11985C>G (p.Phe3995Leu) c.11970C>G (p.Phe3990Leu) c.11967C>G (p.Phe3989Leu) c.594C>G c.5354C>G c.11952C>G (p.Phe3984Leu) c.11982C>G (p.Phe3994Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38543848C>T | CA16608147 | RYR1 | c.395C>T c.377C>T c.11985C>T (p.Phe3995=) c.11970C>T (p.Phe3990=) c.11967C>T (p.Phe3989=) c.594C>T c.5354C>T c.11952C>T (p.Phe3984=) c.11982C>T (p.Phe3994=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543849G>A | CA405662951 | RYR1 | c.396G>A c.378G>A c.11986G>A (p.Ala3996Thr) c.11971G>A (p.Ala3991Thr) c.11968G>A (p.Ala3990Thr) c.595G>A c.5355G>A c.11953G>A (p.Ala3985Thr) c.11983G>A (p.Ala3995Thr) | gnomAD v4 |
| 19 | g.38543849G>C | CA405662952 | RYR1 | c.396G>C c.378G>C c.11986G>C (p.Ala3996Pro) c.11971G>C (p.Ala3991Pro) c.11968G>C (p.Ala3990Pro) c.595G>C c.5355G>C c.11953G>C (p.Ala3985Pro) c.11983G>C (p.Ala3995Pro) | |
| 19 | g.38543849G= | CA2335074548 | RYR1 | c.396G= c.378G= c.11986G= (p.Ala3996=) c.11971G= (p.Ala3991=) c.11968G= (p.Ala3990=) c.595G= c.5355G= c.11953G= (p.Ala3985=) c.11983G= (p.Ala3995=) | |
| 19 | g.38543849G>T | CA405662954 | RYR1 | c.396G>T c.378G>T c.11986G>T (p.Ala3996Ser) c.11971G>T (p.Ala3991Ser) c.11968G>T (p.Ala3990Ser) c.595G>T c.5355G>T c.11953G>T (p.Ala3985Ser) c.11983G>T (p.Ala3995Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543850C>A | CA405662956 | RYR1 | c.397C>A c.379C>A c.11987C>A (p.Ala3996Asp) c.11972C>A (p.Ala3991Asp) c.11969C>A (p.Ala3990Asp) c.596C>A c.5356C>A c.11954C>A (p.Ala3985Asp) c.11984C>A (p.Ala3995Asp) | |
| 19 | g.38543850C= | CA2335074549 | RYR1 | c.397C= c.379C= c.11987C= (p.Ala3996=) c.11972C= (p.Ala3991=) c.11969C= (p.Ala3990=) c.596C= c.5356C= c.11954C= (p.Ala3985=) c.11984C= (p.Ala3995=) | |
| 19 | g.38543850C>G | CA405662962 | RYR1 | c.397C>G c.379C>G c.11987C>G (p.Ala3996Gly) c.11972C>G (p.Ala3991Gly) c.11969C>G (p.Ala3990Gly) c.596C>G c.5356C>G c.11954C>G (p.Ala3985Gly) c.11984C>G (p.Ala3995Gly) | |
| 19 | g.38543850C>T | CA405662960 | RYR1 | c.397C>T c.379C>T c.11987C>T (p.Ala3996Val) c.11972C>T (p.Ala3991Val) c.11969C>T (p.Ala3990Val) c.596C>T c.5356C>T c.11954C>T (p.Ala3985Val) c.11984C>T (p.Ala3995Val) | dbSNP gnomAD v4 |
| 19 | g.38543851C>A | CA507242699 | RYR1 | c.398C>A c.380C>A c.11988C>A (p.Ala3996=) c.11973C>A (p.Ala3991=) c.11970C>A (p.Ala3990=) c.597C>A c.5357C>A c.11955C>A (p.Ala3985=) c.11985C>A (p.Ala3995=) | gnomAD v4 |
| 19 | g.38543851C>G | CA080543 | RYR1 | c.398C>G c.380C>G c.11988C>G (p.Ala3996=) c.11973C>G (p.Ala3991=) c.11970C>G (p.Ala3990=) c.597C>G c.5357C>G c.11955C>G (p.Ala3985=) c.11985C>G (p.Ala3995=) | |
| 19 | g.38543851C>T | CA507242700 | RYR1 | c.398C>T c.380C>T c.11988C>T (p.Ala3996=) c.11973C>T (p.Ala3991=) c.11970C>T (p.Ala3990=) c.597C>T c.5357C>T c.11955C>T (p.Ala3985=) c.11985C>T (p.Ala3995=) | ClinVar |
| 19 | g.38543852C>A | CA405662964 | RYR1 | c.399C>A c.381C>A c.11989C>A (p.His3997Asn) c.11974C>A (p.His3992Asn) c.11971C>A (p.His3991Asn) c.598C>A c.5358C>A c.11956C>A (p.His3986Asn) c.11986C>A (p.His3996Asn) | |
| 19 | g.38543852C= | CA2335074550 | RYR1 | c.399C= c.381C= c.11989C= (p.His3997=) c.11974C= (p.His3992=) c.11971C= (p.His3991=) c.598C= c.5358C= c.11956C= (p.His3986=) c.11986C= (p.His3996=) | |
| 19 | g.38543852C>G | CA405662966 | RYR1 | c.399C>G c.381C>G c.11989C>G (p.His3997Asp) c.11974C>G (p.His3992Asp) c.11971C>G (p.His3991Asp) c.598C>G c.5358C>G c.11956C>G (p.His3986Asp) c.11986C>G (p.His3996Asp) | |
| 19 | g.38543852C>T | CA405662967 | RYR1 | c.399C>T c.381C>T c.11989C>T (p.His3997Tyr) c.11974C>T (p.His3992Tyr) c.11971C>T (p.His3991Tyr) c.598C>T c.5358C>T c.11956C>T (p.His3986Tyr) c.11986C>T (p.His3996Tyr) | dbSNP gnomAD v4 |
| 19 | g.38543853A>C | CA405662970 | RYR1 | c.400A>C c.382A>C c.11990A>C (p.His3997Pro) c.11975A>C (p.His3992Pro) c.11972A>C (p.His3991Pro) c.599A>C c.5359A>C c.11957A>C (p.His3986Pro) c.11987A>C (p.His3996Pro) | |
| 19 | g.38543853A>G | CA405662971 | RYR1 | c.400A>G c.382A>G c.11990A>G (p.His3997Arg) c.11975A>G (p.His3992Arg) c.11972A>G (p.His3991Arg) c.599A>G c.5359A>G c.11957A>G (p.His3986Arg) c.11987A>G (p.His3996Arg) | gnomAD v4 |
| 19 | g.38543853A>T | CA405662973 | RYR1 | c.400A>T c.382A>T c.11990A>T (p.His3997Leu) c.11975A>T (p.His3992Leu) c.11972A>T (p.His3991Leu) c.599A>T c.5359A>T c.11957A>T (p.His3986Leu) c.11987A>T (p.His3996Leu) | |
| 19 | g.38543854C>A | CA405662975 | RYR1 | c.401C>A c.383C>A c.11991C>A (p.His3997Gln) c.11976C>A (p.His3992Gln) c.11973C>A (p.His3991Gln) c.600C>A c.5360C>A c.11958C>A (p.His3986Gln) c.11988C>A (p.His3996Gln) | |
| 19 | g.38543854C>G | CA405662977 | RYR1 | c.401C>G c.383C>G c.11991C>G (p.His3997Gln) c.11976C>G (p.His3992Gln) c.11973C>G (p.His3991Gln) c.600C>G c.5360C>G c.11958C>G (p.His3986Gln) c.11988C>G (p.His3996Gln) | |
| 19 | g.38543854C>T | CA507242704 | RYR1 | c.401C>T c.383C>T c.11991C>T (p.His3997=) c.11976C>T (p.His3992=) c.11973C>T (p.His3991=) c.600C>T c.5360C>T c.11958C>T (p.His3986=) c.11988C>T (p.His3996=) | |
| 19 | g.38543855A= | CA2335074551 | RYR1 | c.402A= c.384A= c.11992A= (p.Met3998=) c.11977A= (p.Met3993=) c.11974A= (p.Met3992=) c.601A= c.5361A= c.11959A= (p.Met3987=) c.11989A= (p.Met3997=) | |
| 19 | g.38543855A>C | CA405662979 | RYR1 | c.402A>C c.384A>C c.11992A>C (p.Met3998Leu) c.11977A>C (p.Met3993Leu) c.11974A>C (p.Met3992Leu) c.601A>C c.5361A>C c.11959A>C (p.Met3987Leu) c.11989A>C (p.Met3997Leu) | |
| 19 | g.38543855A>G | CA405662981 | RYR1 | c.402A>G c.384A>G c.11992A>G (p.Met3998Val) c.11977A>G (p.Met3993Val) c.11974A>G (p.Met3992Val) c.601A>G c.5361A>G c.11959A>G (p.Met3987Val) c.11989A>G (p.Met3997Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543855A>T | CA405662982 | RYR1 | c.402A>T c.384A>T c.11992A>T (p.Met3998Leu) c.11977A>T (p.Met3993Leu) c.11974A>T (p.Met3992Leu) c.601A>T c.5361A>T c.11959A>T (p.Met3987Leu) c.11989A>T (p.Met3997Leu) | |
| 19 | g.38543855dup | CA2740096889 | RYR1 | c.402dup c.384dup c.11992dup (p.Met3998AsnfsTer?) c.11977dup (p.Met3993AsnfsTer?) c.11974dup (p.Met3992AsnfsTer?) c.601dup c.5361dup c.11959dup (p.Met3987AsnfsTer?) c.11989dup (p.Met3997AsnfsTer?) | ClinVar |
| 19 | g.38543862_38543864del | CA2580613115 | RYR1 | c.409_411del c.391_393del c.11999_12001del (p.Met4000del) c.11984_11986del (p.Met3995del) c.11981_11983del (p.Met3994del) c.608_610del c.5368_5370del c.11966_11968del (p.Met3989del) c.11996_11998del (p.Met3999del) | ClinVar dbSNP |
| 19 | g.38543856T>A | CA405662988 | RYR1 | c.403T>A c.385T>A c.11993T>A (p.Met3998Lys) c.11978T>A (p.Met3993Lys) c.11975T>A (p.Met3992Lys) c.602T>A c.5362T>A c.11960T>A (p.Met3987Lys) c.11990T>A (p.Met3997Lys) | |
| 19 | g.38543856T>C | CA405662986 | RYR1 | c.403T>C c.385T>C c.11993T>C (p.Met3998Thr) c.11978T>C (p.Met3993Thr) c.11975T>C (p.Met3992Thr) c.602T>C c.5362T>C c.11960T>C (p.Met3987Thr) c.11990T>C (p.Met3997Thr) | |
| 19 | g.38543856T>G | CA405662984 | RYR1 | c.403T>G c.385T>G c.11993T>G (p.Met3998Arg) c.11978T>G (p.Met3993Arg) c.11975T>G (p.Met3992Arg) c.602T>G c.5362T>G c.11960T>G (p.Met3987Arg) c.11990T>G (p.Met3997Arg) | gnomAD v4 |
| 19 | g.38543857G>A | CA405662989 | RYR1 | c.404G>A c.386G>A c.11994G>A (p.Met3998Ile) c.11979G>A (p.Met3993Ile) c.11976G>A (p.Met3992Ile) c.603G>A c.5363G>A c.11961G>A (p.Met3987Ile) c.11991G>A (p.Met3997Ile) | |
| 19 | g.38543857G>C | CA405662993 | RYR1 | c.404G>C c.386G>C c.11994G>C (p.Met3998Ile) c.11979G>C (p.Met3993Ile) c.11976G>C (p.Met3992Ile) c.603G>C c.5363G>C c.11961G>C (p.Met3987Ile) c.11991G>C (p.Met3997Ile) | |
| 19 | g.38543857G>T | CA405662991 | RYR1 | c.404G>T c.386G>T c.11994G>T (p.Met3998Ile) c.11979G>T (p.Met3993Ile) c.11976G>T (p.Met3992Ile) c.603G>T c.5363G>T c.11961G>T (p.Met3987Ile) c.11991G>T (p.Met3997Ile) | |
| 19 | g.38543858A>C | CA405662995 | RYR1 | c.405A>C c.387A>C c.11995A>C (p.Met3999Leu) c.11980A>C (p.Met3994Leu) c.11977A>C (p.Met3993Leu) c.604A>C c.5364A>C c.11962A>C (p.Met3988Leu) c.11992A>C (p.Met3998Leu) | |
| 19 | g.38543858A>G | CA405662996 | RYR1 | c.405A>G c.387A>G c.11995A>G (p.Met3999Val) c.11980A>G (p.Met3994Val) c.11977A>G (p.Met3993Val) c.604A>G c.5364A>G c.11962A>G (p.Met3988Val) c.11992A>G (p.Met3998Val) | |
| 19 | g.38543858A>T | CA405662997 | RYR1 | c.405A>T c.387A>T c.11995A>T (p.Met3999Leu) c.11980A>T (p.Met3994Leu) c.11977A>T (p.Met3993Leu) c.604A>T c.5364A>T c.11962A>T (p.Met3988Leu) c.11992A>T (p.Met3998Leu) | |
| 19 | g.38543859T>A | CA405662999 | RYR1 | c.406T>A c.388T>A c.11996T>A (p.Met3999Lys) c.11981T>A (p.Met3994Lys) c.11978T>A (p.Met3993Lys) c.605T>A c.5365T>A c.11963T>A (p.Met3988Lys) c.11993T>A (p.Met3998Lys) | |
| 19 | g.38543859T>C | CA405663001 | RYR1 | c.406T>C c.388T>C c.11996T>C (p.Met3999Thr) c.11981T>C (p.Met3994Thr) c.11978T>C (p.Met3993Thr) c.605T>C c.5365T>C c.11963T>C (p.Met3988Thr) c.11993T>C (p.Met3998Thr) | |
| 19 | g.38543859T>G | CA405663003 | RYR1 | c.406T>G c.388T>G c.11996T>G (p.Met3999Arg) c.11981T>G (p.Met3994Arg) c.11978T>G (p.Met3993Arg) c.605T>G c.5365T>G c.11963T>G (p.Met3988Arg) c.11993T>G (p.Met3998Arg) | |
| 19 | g.38543860G>A | CA405663005 | RYR1 | c.407G>A c.389G>A c.11997G>A (p.Met3999Ile) c.11982G>A (p.Met3994Ile) c.11979G>A (p.Met3993Ile) c.606G>A c.5366G>A c.11964G>A (p.Met3988Ile) c.11994G>A (p.Met3998Ile) | gnomAD v4 |
| 19 | g.38543860G>C | CA405663007 | RYR1 | c.407G>C c.389G>C c.11997G>C (p.Met3999Ile) c.11982G>C (p.Met3994Ile) c.11979G>C (p.Met3993Ile) c.606G>C c.5366G>C c.11964G>C (p.Met3988Ile) c.11994G>C (p.Met3998Ile) | |
| 19 | g.38543860G>T | CA405663008 | RYR1 | c.407G>T c.389G>T c.11997G>T (p.Met3999Ile) c.11982G>T (p.Met3994Ile) c.11979G>T (p.Met3993Ile) c.606G>T c.5366G>T c.11964G>T (p.Met3988Ile) c.11994G>T (p.Met3998Ile) | |
| 19 | g.38543861A= | CA2335074552 | RYR1 | c.408A= c.390A= c.11998A= (p.Met4000=) c.11983A= (p.Met3995=) c.11980A= (p.Met3994=) c.607A= c.5367A= c.11965A= (p.Met3989=) c.11995A= (p.Met3999=) | |
| 19 | g.38543861A>C | CA405663009 | RYR1 | c.408A>C c.390A>C c.11998A>C (p.Met4000Leu) c.11983A>C (p.Met3995Leu) c.11980A>C (p.Met3994Leu) c.607A>C c.5367A>C c.11965A>C (p.Met3989Leu) c.11995A>C (p.Met3999Leu) | |
| 19 | g.38543861A>G | CA057977 | RYR1 | c.408A>G c.390A>G c.11998A>G (p.Met4000Val) c.11983A>G (p.Met3995Val) c.11980A>G (p.Met3994Val) c.607A>G c.5367A>G c.11965A>G (p.Met3989Val) c.11995A>G (p.Met3999Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38543861A>T | CA405663011 | RYR1 | c.408A>T c.390A>T c.11998A>T (p.Met4000Leu) c.11983A>T (p.Met3995Leu) c.11980A>T (p.Met3994Leu) c.607A>T c.5367A>T c.11965A>T (p.Met3989Leu) c.11995A>T (p.Met3999Leu) | |
| 19 | g.38543862T>A | CA405663015 | RYR1 | c.409T>A c.391T>A c.11999T>A (p.Met4000Lys) c.11984T>A (p.Met3995Lys) c.11981T>A (p.Met3994Lys) c.608T>A c.5368T>A c.11966T>A (p.Met3989Lys) c.11996T>A (p.Met3999Lys) | |
| 19 | g.38543862T>C | CA405663013 | RYR1 | c.409T>C c.391T>C c.11999T>C (p.Met4000Thr) c.11984T>C (p.Met3995Thr) c.11981T>C (p.Met3994Thr) c.608T>C c.5368T>C c.11966T>C (p.Met3989Thr) c.11996T>C (p.Met3999Thr) | |
| 19 | g.38543862T>G | CA405663014 | RYR1 | c.409T>G c.391T>G c.11999T>G (p.Met4000Arg) c.11984T>G (p.Met3995Arg) c.11981T>G (p.Met3994Arg) c.608T>G c.5368T>G c.11966T>G (p.Met3989Arg) c.11996T>G (p.Met3999Arg) | |
| 19 | g.38543863G>A | CA405663017 | RYR1 | c.410G>A c.392G>A c.12000G>A (p.Met4000Ile) c.11985G>A (p.Met3995Ile) c.11982G>A (p.Met3994Ile) c.609G>A c.5369G>A c.11967G>A (p.Met3989Ile) c.11997G>A (p.Met3999Ile) | ClinVar dbSNP |
| 19 | g.38543863G>C | CA405663018 | RYR1 | c.410G>C c.392G>C c.12000G>C (p.Met4000Ile) c.11985G>C (p.Met3995Ile) c.11982G>C (p.Met3994Ile) c.609G>C c.5369G>C c.11967G>C (p.Met3989Ile) c.11997G>C (p.Met3999Ile) | |
| 19 | g.38543863G= | CA2335074553 | RYR1 | c.410G= c.392G= c.12000G= (p.Met4000=) c.11985G= (p.Met3995=) c.11982G= (p.Met3994=) c.609G= c.5369G= c.11967G= (p.Met3989=) c.11997G= (p.Met3999=) | |
| 19 | g.38543863G>T | CA405663020 | RYR1 | c.410G>T c.392G>T c.12000G>T (p.Met4000Ile) c.11985G>T (p.Met3995Ile) c.11982G>T (p.Met3994Ile) c.609G>T c.5369G>T c.11967G>T (p.Met3989Ile) c.11997G>T (p.Met3999Ile) | |
| 19 | g.38543864A>C | CA405663022 | RYR1 | c.411A>C c.393A>C c.12001A>C (p.Lys4001Gln) c.11986A>C (p.Lys3996Gln) c.11983A>C (p.Lys3995Gln) c.610A>C c.5370A>C c.11968A>C (p.Lys3990Gln) c.11998A>C (p.Lys4000Gln) | |
| 19 | g.38543864A>G | CA080544 | RYR1 | c.411A>G c.393A>G c.12001A>G (p.Lys4001Glu) c.11986A>G (p.Lys3996Glu) c.11983A>G (p.Lys3995Glu) c.610A>G c.5370A>G c.11968A>G (p.Lys3990Glu) c.11998A>G (p.Lys4000Glu) | |
| 19 | g.38543864A>T | CA405663024 | RYR1 | c.411A>T c.393A>T c.12001A>T (p.Lys4001Ter) c.11986A>T (p.Lys3996Ter) c.11983A>T (p.Lys3995Ter) c.610A>T c.5370A>T c.11968A>T (p.Lys3990Ter) c.11998A>T (p.Lys4000Ter) | |
| 19 | g.38543865A= | CA2335074554 | RYR1 | c.412A= c.394A= c.12002A= (p.Lys4001=) c.11987A= (p.Lys3996=) c.11984A= (p.Lys3995=) c.611A= c.5371A= c.11969A= (p.Lys3990=) c.11999A= (p.Lys4000=) | |
| 19 | g.38543865A>C | CA405663026 | RYR1 | c.412A>C c.394A>C c.12002A>C (p.Lys4001Thr) c.11987A>C (p.Lys3996Thr) c.11984A>C (p.Lys3995Thr) c.611A>C c.5371A>C c.11969A>C (p.Lys3990Thr) c.11999A>C (p.Lys4000Thr) | |
| 19 | g.38543865A>G | CA405663028 | RYR1 | c.412A>G c.394A>G c.12002A>G (p.Lys4001Arg) c.11987A>G (p.Lys3996Arg) c.11984A>G (p.Lys3995Arg) c.611A>G c.5371A>G c.11969A>G (p.Lys3990Arg) c.11999A>G (p.Lys4000Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38543865A>T | CA405663030 | RYR1 | c.412A>T c.394A>T c.12002A>T (p.Lys4001Met) c.11987A>T (p.Lys3996Met) c.11984A>T (p.Lys3995Met) c.611A>T c.5371A>T c.11969A>T (p.Lys3990Met) c.11999A>T (p.Lys4000Met) | |
| 19 | g.38543866G>A | CA507242718 | RYR1 | c.413G>A c.395G>A c.12003G>A (p.Lys4001=) c.11988G>A (p.Lys3996=) c.11985G>A (p.Lys3995=) c.612G>A c.5372G>A c.11970G>A (p.Lys3990=) c.12000G>A (p.Lys4000=) | |
| 19 | g.38543866G>C | CA405663032 | RYR1 | c.413G>C c.395G>C c.12003G>C (p.Lys4001Asn) c.11988G>C (p.Lys3996Asn) c.11985G>C (p.Lys3995Asn) c.612G>C c.5372G>C c.11970G>C (p.Lys3990Asn) c.12000G>C (p.Lys4000Asn) | |
| 19 | g.38543866G>T | CA405663033 | RYR1 | c.413G>T c.395G>T c.12003G>T (p.Lys4001Asn) c.11988G>T (p.Lys3996Asn) c.11985G>T (p.Lys3995Asn) c.612G>T c.5372G>T c.11970G>T (p.Lys3990Asn) c.12000G>T (p.Lys4000Asn) | |
| 19 | g.38543867C>A | CA405663037 | RYR1 | c.414C>A c.396C>A c.12004C>A (p.Leu4002Ile) c.11989C>A (p.Leu3997Ile) c.11986C>A (p.Leu3996Ile) c.613C>A c.5373C>A c.11971C>A (p.Leu3991Ile) c.12001C>A (p.Leu4001Ile) | |
| 19 | g.38543867C>G | CA405663036 | RYR1 | c.414C>G c.396C>G c.12004C>G (p.Leu4002Val) c.11989C>G (p.Leu3997Val) c.11986C>G (p.Leu3996Val) c.613C>G c.5373C>G c.11971C>G (p.Leu3991Val) c.12001C>G (p.Leu4001Val) | |
| 19 | g.38543867C>T | CA405663035 | RYR1 | c.414C>T c.396C>T c.12004C>T (p.Leu4002Phe) c.11989C>T (p.Leu3997Phe) c.11986C>T (p.Leu3996Phe) c.613C>T c.5373C>T c.11971C>T (p.Leu3991Phe) c.12001C>T (p.Leu4001Phe) | gnomAD v4 |
| 19 | g.38543868T>A | CA405663039 | RYR1 | c.415T>A c.397T>A c.12005T>A (p.Leu4002His) c.11990T>A (p.Leu3997His) c.11987T>A (p.Leu3996His) c.614T>A c.5374T>A c.11972T>A (p.Leu3991His) c.12002T>A (p.Leu4001His) | |
| 19 | g.38543868T>C | CA405663041 | RYR1 | c.415T>C c.397T>C c.12005T>C (p.Leu4002Pro) c.11990T>C (p.Leu3997Pro) c.11987T>C (p.Leu3996Pro) c.614T>C c.5374T>C c.11972T>C (p.Leu3991Pro) c.12002T>C (p.Leu4001Pro) | |
| 19 | g.38543868T>G | CA405663043 | RYR1 | c.415T>G c.397T>G c.12005T>G (p.Leu4002Arg) c.11990T>G (p.Leu3997Arg) c.11987T>G (p.Leu3996Arg) c.614T>G c.5374T>G c.11972T>G (p.Leu3991Arg) c.12002T>G (p.Leu4001Arg) | |
| 19 | g.38543869C>A | CA507242722 | RYR1 | c.416C>A c.398C>A c.12006C>A (p.Leu4002=) c.11991C>A (p.Leu3997=) c.11988C>A (p.Leu3996=) c.615C>A c.5375C>A c.11973C>A (p.Leu3991=) c.12003C>A (p.Leu4001=) | |
| 19 | g.38543869C= | CA2335074555 | RYR1 | c.416C= c.398C= c.12006C= (p.Leu4002=) c.11991C= (p.Leu3997=) c.11988C= (p.Leu3996=) c.615C= c.5375C= c.11973C= (p.Leu3991=) c.12003C= (p.Leu4001=) | |
| 19 | g.38543869C>G | CA507242721 | RYR1 | c.416C>G c.398C>G c.12006C>G (p.Leu4002=) c.11991C>G (p.Leu3997=) c.11988C>G (p.Leu3996=) c.615C>G c.5375C>G c.11973C>G (p.Leu3991=) c.12003C>G (p.Leu4001=) | |
| 19 | g.38543869C>T | CA308092423 | RYR1 | c.416C>T c.398C>T c.12006C>T (p.Leu4002=) c.11991C>T (p.Leu3997=) c.11988C>T (p.Leu3996=) c.615C>T c.5375C>T c.11973C>T (p.Leu3991=) c.12003C>T (p.Leu4001=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543870G>A | CA405663045 | RYR1 | c.417G>A c.399G>A c.12007G>A (p.Ala4003Thr) c.11992G>A (p.Ala3998Thr) c.11989G>A (p.Ala3997Thr) c.616G>A c.5376G>A c.11974G>A (p.Ala3992Thr) c.12004G>A (p.Ala4002Thr) | dbSNP |
| 19 | g.38543870G>C | CA405663046 | RYR1 | c.417G>C c.399G>C c.12007G>C (p.Ala4003Pro) c.11992G>C (p.Ala3998Pro) c.11989G>C (p.Ala3997Pro) c.616G>C c.5376G>C c.11974G>C (p.Ala3992Pro) c.12004G>C (p.Ala4002Pro) | |
| 19 | g.38543870G= | CA2335074556 | RYR1 | c.417G= c.399G= c.12007G= (p.Ala4003=) c.11992G= (p.Ala3998=) c.11989G= (p.Ala3997=) c.616G= c.5376G= c.11974G= (p.Ala3992=) c.12004G= (p.Ala4002=) | |
| 19 | g.38543870G>T | CA405663048 | RYR1 | c.417G>T c.399G>T c.12007G>T (p.Ala4003Ser) c.11992G>T (p.Ala3998Ser) c.11989G>T (p.Ala3997Ser) c.616G>T c.5376G>T c.11974G>T (p.Ala3992Ser) c.12004G>T (p.Ala4002Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543871C>A | CA405663049 | RYR1 | c.418C>A c.400C>A c.12008C>A (p.Ala4003Asp) c.11993C>A (p.Ala3998Asp) c.11990C>A (p.Ala3997Asp) c.617C>A c.5377C>A c.11975C>A (p.Ala3992Asp) c.12005C>A (p.Ala4002Asp) | |
| 19 | g.38543871C>G | CA405663050 | RYR1 | c.418C>G c.400C>G c.12008C>G (p.Ala4003Gly) c.11993C>G (p.Ala3998Gly) c.11990C>G (p.Ala3997Gly) c.617C>G c.5377C>G c.11975C>G (p.Ala3992Gly) c.12005C>G (p.Ala4002Gly) | |
| 19 | g.38543871C>T | CA405663052 | RYR1 | c.418C>T c.400C>T c.12008C>T (p.Ala4003Val) c.11993C>T (p.Ala3998Val) c.11990C>T (p.Ala3997Val) c.617C>T c.5377C>T c.11975C>T (p.Ala3992Val) c.12005C>T (p.Ala4002Val) | COSMIC |
| 19 | g.38543872T>A | CA507242723 | RYR1 | c.419T>A c.401T>A c.12009T>A (p.Ala4003=) c.11994T>A (p.Ala3998=) c.11991T>A (p.Ala3997=) c.618T>A c.5378T>A c.11976T>A (p.Ala3992=) c.12006T>A (p.Ala4002=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543872T>C | CA507242725 | RYR1 | c.419T>C c.401T>C c.12009T>C (p.Ala4003=) c.11994T>C (p.Ala3998=) c.11991T>C (p.Ala3997=) c.618T>C c.5378T>C c.11976T>C (p.Ala3992=) c.12006T>C (p.Ala4002=) | |
| 19 | g.38543872T>G | CA507242727 | RYR1 | c.419T>G c.401T>G c.12009T>G (p.Ala4003=) c.11994T>G (p.Ala3998=) c.11991T>G (p.Ala3997=) c.618T>G c.5378T>G c.11976T>G (p.Ala3992=) c.12006T>G (p.Ala4002=) | |
| 19 | g.38543872T= | CA2335074557 | RYR1 | c.419T= c.401T= c.12009T= (p.Ala4003=) c.11994T= (p.Ala3998=) c.11991T= (p.Ala3997=) c.618T= c.5378T= c.11976T= (p.Ala3992=) c.12006T= (p.Ala4002=) | |
| 19 | g.38543873C>A | CA405663054 | RYR1 | c.420C>A c.402C>A c.12010C>A (p.Gln4004Lys) c.11995C>A (p.Gln3999Lys) c.11992C>A (p.Gln3998Lys) c.619C>A c.5379C>A c.11977C>A (p.Gln3993Lys) c.12007C>A (p.Gln4003Lys) | |
| 19 | g.38543873C= | CA2335074558 | RYR1 | c.420C= c.402C= c.12010C= (p.Gln4004=) c.11995C= (p.Gln3999=) c.11992C= (p.Gln3998=) c.619C= c.5379C= c.11977C= (p.Gln3993=) c.12007C= (p.Gln4003=) | |
| 19 | g.38543873C>G | CA405663056 | RYR1 | c.420C>G c.402C>G c.12010C>G (p.Gln4004Glu) c.11995C>G (p.Gln3999Glu) c.11992C>G (p.Gln3998Glu) c.619C>G c.5379C>G c.11977C>G (p.Gln3993Glu) c.12007C>G (p.Gln4003Glu) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38543873C>T | CA405663057 | RYR1 | c.420C>T c.402C>T c.12010C>T (p.Gln4004Ter) c.11995C>T (p.Gln3999Ter) c.11992C>T (p.Gln3998Ter) c.619C>T c.5379C>T c.11977C>T (p.Gln3993Ter) c.12007C>T (p.Gln4003Ter) | ClinVar |
| 19 | g.38543874A>C | CA405663061 | RYR1 | c.421A>C c.403A>C c.12011A>C (p.Gln4004Pro) c.11996A>C (p.Gln3999Pro) c.11993A>C (p.Gln3998Pro) c.620A>C c.5380A>C c.11978A>C (p.Gln3993Pro) c.12008A>C (p.Gln4003Pro) | |
| 19 | g.38543874A>G | CA405663063 | RYR1 | c.421A>G c.403A>G c.12011A>G (p.Gln4004Arg) c.11996A>G (p.Gln3999Arg) c.11993A>G (p.Gln3998Arg) c.620A>G c.5380A>G c.11978A>G (p.Gln3993Arg) c.12008A>G (p.Gln4003Arg) | |
| 19 | g.38543874A>T | CA405663059 | RYR1 | c.421A>T c.403A>T c.12011A>T (p.Gln4004Leu) c.11996A>T (p.Gln3999Leu) c.11993A>T (p.Gln3998Leu) c.620A>T c.5380A>T c.11978A>T (p.Gln3993Leu) c.12008A>T (p.Gln4003Leu) | |
| 19 | g.38543875G>A | CA507242730 | RYR1 | c.422G>A c.404G>A c.12012G>A (p.Gln4004=) c.11997G>A (p.Gln3999=) c.11994G>A (p.Gln3998=) c.621G>A c.5381G>A c.11979G>A (p.Gln3993=) c.12009G>A (p.Gln4003=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38543875G>C | CA405663064 | RYR1 | c.422G>C c.404G>C c.12012G>C (p.Gln4004His) c.11997G>C (p.Gln3999His) c.11994G>C (p.Gln3998His) c.621G>C c.5381G>C c.11979G>C (p.Gln3993His) c.12009G>C (p.Gln4003His) | |
| 19 | g.38543875G= | CA2335074559 | RYR1 | c.422G= c.404G= c.12012G= (p.Gln4004=) c.11997G= (p.Gln3999=) c.11994G= (p.Gln3998=) c.621G= c.5381G= c.11979G= (p.Gln3993=) c.12009G= (p.Gln4003=) | |
| 19 | g.38543875G>T | CA405663066 | RYR1 | c.422G>T c.404G>T c.12012G>T (p.Gln4004His) c.11997G>T (p.Gln3999His) c.11994G>T (p.Gln3998His) c.621G>T c.5381G>T c.11979G>T (p.Gln3993His) c.12009G>T (p.Gln4003His) | dbSNP gnomAD v2 |
| 19 | g.38543876G>A | CA405663068 | RYR1 | c.422+1G>A c.404+1G>A c.12012+1G>A (n.12012+1G>A) c.11997+1G>A (n.11997+1G>A) c.11994+1G>A (n.11994+1G>A) c.621+1G>A c.5381+1G>A c.11979+1G>A (n.11979+1G>A) c.12009+1G>A (n.12009+1G>A) | |
| 19 | g.38543876G>C | CA405663069 | RYR1 | c.422+1G>C c.404+1G>C c.12012+1G>C (n.12012+1G>C) c.11997+1G>C (n.11997+1G>C) c.11994+1G>C (n.11994+1G>C) c.621+1G>C c.5381+1G>C c.11979+1G>C (n.11979+1G>C) c.12009+1G>C (n.12009+1G>C) | |
| 19 | g.38543876G>T | CA405663071 | RYR1 | c.422+1G>T c.404+1G>T c.12012+1G>T (n.12012+1G>T) c.11997+1G>T (n.11997+1G>T) c.11994+1G>T (n.11994+1G>T) c.621+1G>T c.5381+1G>T c.11979+1G>T (n.11979+1G>T) c.12009+1G>T (n.12009+1G>T) | ClinVar |
| 19 | g.38543877T>A | CA308092431 | RYR1 | c.422+2T>A c.404+2T>A c.12012+2T>A (n.12012+2T>A) c.11997+2T>A (n.11997+2T>A) c.11994+2T>A (n.11994+2T>A) c.621+2T>A c.5381+2T>A c.11979+2T>A (n.11979+2T>A) c.12009+2T>A (n.12009+2T>A) | dbSNP |
| 19 | g.38543877T>C | CA405663073 | RYR1 | c.422+2T>C c.404+2T>C c.12012+2T>C (n.12012+2T>C) c.11997+2T>C (n.11997+2T>C) c.11994+2T>C (n.11994+2T>C) c.621+2T>C c.5381+2T>C c.11979+2T>C (n.11979+2T>C) c.12009+2T>C (n.12009+2T>C) | |
| 19 | g.38543877T>G | CA405663075 | RYR1 | c.422+2T>G c.404+2T>G c.12012+2T>G (n.12012+2T>G) c.11997+2T>G (n.11997+2T>G) c.11994+2T>G (n.11994+2T>G) c.621+2T>G c.5381+2T>G c.11979+2T>G (n.11979+2T>G) c.12009+2T>G (n.12009+2T>G) | |
| 19 | g.38543877T= | CA2335074560 | RYR1 | c.422+2T= c.404+2T= c.12012+2T= (n.12012+2T=) c.11997+2T= (n.11997+2T=) c.11994+2T= (n.11994+2T=) c.621+2T= c.5381+2T= c.11979+2T= (n.11979+2T=) c.12009+2T= (n.12009+2T=) | |
| 19 | g.38543879C>A | CA2584908144 | RYR1 | c.422+4C>A c.404+4C>A c.12012+4C>A (n.12012+4C>A) c.11997+4C>A (n.11997+4C>A) c.11994+4C>A (n.11994+4C>A) c.621+4C>A c.5381+4C>A c.11979+4C>A (n.11979+4C>A) c.12009+4C>A (n.12009+4C>A) | gnomAD v4 |
| 19 | g.38543879C>T | CA2584908143 | RYR1 | c.422+4C>T c.404+4C>T c.12012+4C>T (n.12012+4C>T) c.11997+4C>T (n.11997+4C>T) c.11994+4C>T (n.11994+4C>T) c.621+4C>T c.5381+4C>T c.11979+4C>T (n.11979+4C>T) c.12009+4C>T (n.12009+4C>T) | gnomAD v4 |
| 19 | g.38543880G>C | CA632869741 | RYR1 | c.422+5G>C c.404+5G>C c.12012+5G>C (n.12012+5G>C) c.11997+5G>C (n.11997+5G>C) c.11994+5G>C (n.11994+5G>C) c.621+5G>C c.5381+5G>C c.11979+5G>C (n.11979+5G>C) c.12009+5G>C (n.12009+5G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543880G= | CA2335074561 | RYR1 | c.422+5G= c.404+5G= c.12012+5G= (n.12012+5G=) c.11997+5G= (n.11997+5G=) c.11994+5G= (n.11994+5G=) c.621+5G= c.5381+5G= c.11979+5G= (n.11979+5G=) c.12009+5G= (n.12009+5G=) | |
| 19 | g.38543882G>A | CA058051 | RYR1 | c.422+7G>A c.404+7G>A c.12012+7G>A (n.12012+7G>A) c.11997+7G>A (n.11997+7G>A) c.11994+7G>A (n.11994+7G>A) c.621+7G>A c.5381+7G>A c.11979+7G>A (n.11979+7G>A) c.12009+7G>A (n.12009+7G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38543882G= | CA2335074562 | RYR1 | c.422+7G= c.404+7G= c.12012+7G= (n.12012+7G=) c.11997+7G= (n.11997+7G=) c.11994+7G= (n.11994+7G=) c.621+7G= c.5381+7G= c.11979+7G= (n.11979+7G=) c.12009+7G= (n.12009+7G=) | |
| 19 | g.38543882_38543891del | CA2739276753 | RYR1 | c.422+7_422+16del c.404+7_404+16del c.12012+7_12012+16del (n.12012+7_12012+16del) c.11997+7_11997+16del (n.11997+7_11997+16del) c.11994+7_11994+16del (n.11994+7_11994+16del) c.621+7_621+16del c.5381+7_5381+16del c.11979+7_11979+16del (n.11979+7_11979+16del) c.12009+7_12009+16del (n.12009+7_12009+16del) | ClinVar |
| 19 | g.38543883C>T | CA2584908145 | RYR1 | c.422+8C>T c.404+8C>T c.12012+8C>T (n.12012+8C>T) c.11997+8C>T (n.11997+8C>T) c.11994+8C>T (n.11994+8C>T) c.621+8C>T c.5381+8C>T c.11979+8C>T (n.11979+8C>T) c.12009+8C>T (n.12009+8C>T) | gnomAD v4 |
| 19 | g.38543885C= | CA2335074563 | RYR1 | c.422+10C= c.404+10C= c.12012+10C= (n.12012+10C=) c.11997+10C= (n.11997+10C=) c.11994+10C= (n.11994+10C=) c.621+10C= c.5381+10C= c.11979+10C= (n.11979+10C=) c.12009+10C= (n.12009+10C=) | |
| 19 | g.38543885C>T | CA2335074564 | RYR1 | c.422+10C>T c.404+10C>T c.12012+10C>T (n.12012+10C>T) c.11997+10C>T (n.11997+10C>T) c.11994+10C>T (n.11994+10C>T) c.621+10C>T c.5381+10C>T c.11979+10C>T (n.11979+10C>T) c.12009+10C>T (n.12009+10C>T) | dbSNP gnomAD v4 |
| 19 | g.38543886C>A | CA057982 | RYR1 | c.422+11C>A c.404+11C>A c.12012+11C>A (n.12012+11C>A) c.11997+11C>A (n.11997+11C>A) c.11994+11C>A (n.11994+11C>A) c.621+11C>A c.5381+11C>A c.11979+11C>A (n.11979+11C>A) c.12009+11C>A (n.12009+11C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38543886C= | CA2335074565 | RYR1 | c.422+11C= c.404+11C= c.12012+11C= (n.12012+11C=) c.11997+11C= (n.11997+11C=) c.11994+11C= (n.11994+11C=) c.621+11C= c.5381+11C= c.11979+11C= (n.11979+11C=) c.12009+11C= (n.12009+11C=) | |
| 19 | g.38543886C>G | CA2576804847 | RYR1 | c.422+11C>G c.404+11C>G c.12012+11C>G (n.12012+11C>G) c.11997+11C>G (n.11997+11C>G) c.11994+11C>G (n.11994+11C>G) c.621+11C>G c.5381+11C>G c.11979+11C>G (n.11979+11C>G) c.12009+11C>G (n.12009+11C>G) | gnomAD v4 |
| 19 | g.38543886C>T | CA057985 | RYR1 | c.422+11C>T c.404+11C>T c.12012+11C>T (n.12012+11C>T) c.11997+11C>T (n.11997+11C>T) c.11994+11C>T (n.11994+11C>T) c.621+11C>T c.5381+11C>T c.11979+11C>T (n.11979+11C>T) c.12009+11C>T (n.12009+11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543887T>G | CA2573156329 | RYR1 | c.422+12T>G c.404+12T>G c.12012+12T>G (n.12012+12T>G) c.11997+12T>G (n.11997+12T>G) c.11994+12T>G (n.11994+12T>G) c.621+12T>G c.5381+12T>G c.11979+12T>G (n.11979+12T>G) c.12009+12T>G (n.12009+12T>G) | ClinVar dbSNP |
| 19 | g.38543888C>A | CA2573156331 | RYR1 | c.422+13C>A c.404+13C>A c.12012+13C>A (n.12012+13C>A) c.11997+13C>A (n.11997+13C>A) c.11994+13C>A (n.11994+13C>A) c.621+13C>A c.5381+13C>A c.11979+13C>A (n.11979+13C>A) c.12009+13C>A (n.12009+13C>A) | ClinVar dbSNP |
| 19 | g.38543888C= | CA2335074566 | RYR1 | c.422+13C= c.404+13C= c.12012+13C= (n.12012+13C=) c.11997+13C= (n.11997+13C=) c.11994+13C= (n.11994+13C=) c.621+13C= c.5381+13C= c.11979+13C= (n.11979+13C=) c.12009+13C= (n.12009+13C=) | |
| 19 | g.38543888C>T | CA882061006 | RYR1 | c.422+13C>T c.404+13C>T c.12012+13C>T (n.12012+13C>T) c.11997+13C>T (n.11997+13C>T) c.11994+13C>T (n.11994+13C>T) c.621+13C>T c.5381+13C>T c.11979+13C>T (n.11979+13C>T) c.12009+13C>T (n.12009+13C>T) | dbSNP gnomAD v3 gnomAD v4 |