UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38561253C>A | CA405668796 | RYR1 | c.833C>A c.815C>A c.12423C>A (p.Asn4141Lys) c.12408C>A (p.Asn4136Lys) c.12405C>A (p.Asn4135Lys) c.5792C>A c.12390C>A (p.Asn4130Lys) c.12420C>A (p.Asn4140Lys) | gnomAD v4 |
| 19 | g.38561253C= | CA2335082574 | RYR1 | c.833C= c.815C= c.12423C= (p.Asn4141=) c.12408C= (p.Asn4136=) c.12405C= (p.Asn4135=) c.5792C= c.12390C= (p.Asn4130=) c.12420C= (p.Asn4140=) | |
| 19 | g.38561253C>G | CA405668798 | RYR1 | c.833C>G c.815C>G c.12423C>G (p.Asn4141Lys) c.12408C>G (p.Asn4136Lys) c.12405C>G (p.Asn4135Lys) c.5792C>G c.12390C>G (p.Asn4130Lys) c.12420C>G (p.Asn4140Lys) | |
| 19 | g.38561253C>T | CA507355086 | RYR1 | c.833C>T c.815C>T c.12423C>T (p.Asn4141=) c.12408C>T (p.Asn4136=) c.12405C>T (p.Asn4135=) c.5792C>T c.12390C>T (p.Asn4130=) c.12420C>T (p.Asn4140=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38561254G>A | CA405668803 | RYR1 | c.834G>A c.816G>A c.12424G>A (p.Val4142Met) c.12409G>A (p.Val4137Met) c.12406G>A (p.Val4136Met) c.5793G>A c.12391G>A (p.Val4131Met) c.12421G>A (p.Val4141Met) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38561254G>C | CA405668806 | RYR1 | c.834G>C c.816G>C c.12424G>C (p.Val4142Leu) c.12409G>C (p.Val4137Leu) c.12406G>C (p.Val4136Leu) c.5793G>C c.12391G>C (p.Val4131Leu) c.12421G>C (p.Val4141Leu) | |
| 19 | g.38561254G= | CA2335082575 | RYR1 | c.834G= c.816G= c.12424G= (p.Val4142=) c.12409G= (p.Val4137=) c.12406G= (p.Val4136=) c.5793G= c.12391G= (p.Val4131=) c.12421G= (p.Val4141=) | |
| 19 | g.38561254G>T | CA405668800 | RYR1 | c.834G>T c.816G>T c.12424G>T (p.Val4142Leu) c.12409G>T (p.Val4137Leu) c.12406G>T (p.Val4136Leu) c.5793G>T c.12391G>T (p.Val4131Leu) c.12421G>T (p.Val4141Leu) | |
| 19 | g.38561255T>A | CA405668811 | RYR1 | c.835T>A c.817T>A c.12425T>A (p.Val4142Glu) c.12410T>A (p.Val4137Glu) c.12407T>A (p.Val4136Glu) c.5794T>A c.12392T>A (p.Val4131Glu) c.12422T>A (p.Val4141Glu) | |
| 19 | g.38561255T>C | CA405668812 | RYR1 | c.835T>C c.817T>C c.12425T>C (p.Val4142Ala) c.12410T>C (p.Val4137Ala) c.12407T>C (p.Val4136Ala) c.5794T>C c.12392T>C (p.Val4131Ala) c.12422T>C (p.Val4141Ala) | dbSNP gnomAD v4 |
| 19 | g.38561255T>G | CA405668813 | RYR1 | c.835T>G c.817T>G c.12425T>G (p.Val4142Gly) c.12410T>G (p.Val4137Gly) c.12407T>G (p.Val4136Gly) c.5794T>G c.12392T>G (p.Val4131Gly) c.12422T>G (p.Val4141Gly) | |
| 19 | g.38561255T= | CA2335082576 | RYR1 | c.835T= c.817T= c.12425T= (p.Val4142=) c.12410T= (p.Val4137=) c.12407T= (p.Val4136=) c.5794T= c.12392T= (p.Val4131=) c.12422T= (p.Val4141=) | |
| 19 | g.38561256G>A | CA507355098 | RYR1 | c.836G>A c.818G>A c.12426G>A (p.Val4142=) c.12411G>A (p.Val4137=) c.12408G>A (p.Val4136=) c.5795G>A c.12393G>A (p.Val4131=) c.12423G>A (p.Val4141=) | |
| 19 | g.38561256G>C | CA507355100 | RYR1 | c.836G>C c.818G>C c.12426G>C (p.Val4142=) c.12411G>C (p.Val4137=) c.12408G>C (p.Val4136=) c.5795G>C c.12393G>C (p.Val4131=) c.12423G>C (p.Val4141=) | |
| 19 | g.38561256G>T | CA507355101 | RYR1 | c.836G>T c.818G>T c.12426G>T (p.Val4142=) c.12411G>T (p.Val4137=) c.12408G>T (p.Val4136=) c.5795G>T c.12393G>T (p.Val4131=) c.12423G>T (p.Val4141=) | |
| 19 | g.38561257G>A | CA405668814 | RYR1 | c.837G>A c.819G>A c.12427G>A (p.Ala4143Thr) c.12412G>A (p.Ala4138Thr) c.12409G>A (p.Ala4137Thr) c.5796G>A c.12394G>A (p.Ala4132Thr) c.12424G>A (p.Ala4142Thr) | |
| 19 | g.38561257G>C | CA405668815 | RYR1 | c.837G>C c.819G>C c.12427G>C (p.Ala4143Pro) c.12412G>C (p.Ala4138Pro) c.12409G>C (p.Ala4137Pro) c.5796G>C c.12394G>C (p.Ala4132Pro) c.12424G>C (p.Ala4142Pro) | |
| 19 | g.38561257G>T | CA405668816 | RYR1 | c.837G>T c.819G>T c.12427G>T (p.Ala4143Ser) c.12412G>T (p.Ala4138Ser) c.12409G>T (p.Ala4137Ser) c.5796G>T c.12394G>T (p.Ala4132Ser) c.12424G>T (p.Ala4142Ser) | |
| 19 | g.38561258C>A | CA405668821 | RYR1 | c.838C>A c.820C>A c.12428C>A (p.Ala4143Glu) c.12413C>A (p.Ala4138Glu) c.12410C>A (p.Ala4137Glu) c.5797C>A c.12395C>A (p.Ala4132Glu) c.12425C>A (p.Ala4142Glu) | |
| 19 | g.38561258C= | CA2335082577 | RYR1 | c.838C= c.820C= c.12428C= (p.Ala4143=) c.12413C= (p.Ala4138=) c.12410C= (p.Ala4137=) c.5797C= c.12395C= (p.Ala4132=) c.12425C= (p.Ala4142=) | |
| 19 | g.38561258C>G | CA405668825 | RYR1 | c.838C>G c.820C>G c.12428C>G (p.Ala4143Gly) c.12413C>G (p.Ala4138Gly) c.12410C>G (p.Ala4137Gly) c.5797C>G c.12395C>G (p.Ala4132Gly) c.12425C>G (p.Ala4142Gly) | |
| 19 | g.38561258C>T | CA058876 | RYR1 | c.838C>T c.820C>T c.12428C>T (p.Ala4143Val) c.12413C>T (p.Ala4138Val) c.12410C>T (p.Ala4137Val) c.5797C>T c.12395C>T (p.Ala4132Val) c.12425C>T (p.Ala4142Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38561259G>A | CA308105722 | RYR1 | c.839G>A c.821G>A c.12429G>A (p.Ala4143=) c.12414G>A (p.Ala4138=) c.12411G>A (p.Ala4137=) c.5798G>A c.12396G>A (p.Ala4132=) c.12426G>A (p.Ala4142=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38561259G>C | CA507355112 | RYR1 | c.839G>C c.821G>C c.12429G>C (p.Ala4143=) c.12414G>C (p.Ala4138=) c.12411G>C (p.Ala4137=) c.5798G>C c.12396G>C (p.Ala4132=) c.12426G>C (p.Ala4142=) | |
| 19 | g.38561259G= | CA2335082578 | RYR1 | c.839G= c.821G= c.12429G= (p.Ala4143=) c.12414G= (p.Ala4138=) c.12411G= (p.Ala4137=) c.5798G= c.12396G= (p.Ala4132=) c.12426G= (p.Ala4142=) | |
| 19 | g.38561259G>T | CA507355114 | RYR1 | c.839G>T c.821G>T c.12429G>T (p.Ala4143=) c.12414G>T (p.Ala4138=) c.12411G>T (p.Ala4137=) c.5798G>T c.12396G>T (p.Ala4132=) c.12426G>T (p.Ala4142=) | |
| 19 | g.38561260G>A | CA405668829 | RYR1 | c.840G>A c.822G>A c.12430G>A (p.Val4144Met) c.12415G>A (p.Val4139Met) c.12412G>A (p.Val4138Met) c.5799G>A c.12397G>A (p.Val4133Met) c.12427G>A (p.Val4143Met) | |
| 19 | g.38561260G>C | CA405668831 | RYR1 | c.840G>C c.822G>C c.12430G>C (p.Val4144Leu) c.12415G>C (p.Val4139Leu) c.12412G>C (p.Val4138Leu) c.5799G>C c.12397G>C (p.Val4133Leu) c.12427G>C (p.Val4143Leu) | |
| 19 | g.38561260G>T | CA405668833 | RYR1 | c.840G>T c.822G>T c.12430G>T (p.Val4144Leu) c.12415G>T (p.Val4139Leu) c.12412G>T (p.Val4138Leu) c.5799G>T c.12397G>T (p.Val4133Leu) c.12427G>T (p.Val4143Leu) | |
| 19 | g.38561261T>A | CA405668837 | RYR1 | c.841T>A c.823T>A c.12431T>A (p.Val4144Glu) c.12416T>A (p.Val4139Glu) c.12413T>A (p.Val4138Glu) c.5800T>A c.12398T>A (p.Val4133Glu) c.12428T>A (p.Val4143Glu) | |
| 19 | g.38561261T>C | CA405668841 | RYR1 | c.841T>C c.823T>C c.12431T>C (p.Val4144Ala) c.12416T>C (p.Val4139Ala) c.12413T>C (p.Val4138Ala) c.5800T>C c.12398T>C (p.Val4133Ala) c.12428T>C (p.Val4143Ala) | |
| 19 | g.38561261T>G | CA405668838 | RYR1 | c.841T>G c.823T>G c.12431T>G (p.Val4144Gly) c.12416T>G (p.Val4139Gly) c.12413T>G (p.Val4138Gly) c.5800T>G c.12398T>G (p.Val4133Gly) c.12428T>G (p.Val4143Gly) | dbSNP |
| 19 | g.38561261T= | CA2335082579 | RYR1 | c.841T= c.823T= c.12431T= (p.Val4144=) c.12416T= (p.Val4139=) c.12413T= (p.Val4138=) c.5800T= c.12398T= (p.Val4133=) c.12428T= (p.Val4143=) | |
| 19 | g.38561262G>A | CA507355126 | RYR1 | c.842G>A c.824G>A c.12432G>A (p.Val4144=) c.12417G>A (p.Val4139=) c.12414G>A (p.Val4138=) c.5801G>A c.12399G>A (p.Val4133=) c.12429G>A (p.Val4143=) | |
| 19 | g.38561262G>C | CA507355128 | RYR1 | c.842G>C c.824G>C c.12432G>C (p.Val4144=) c.12417G>C (p.Val4139=) c.12414G>C (p.Val4138=) c.5801G>C c.12399G>C (p.Val4133=) c.12429G>C (p.Val4143=) | |
| 19 | g.38561262G>T | CA507355124 | RYR1 | c.842G>T c.824G>T c.12432G>T (p.Val4144=) c.12417G>T (p.Val4139=) c.12414G>T (p.Val4138=) c.5801G>T c.12399G>T (p.Val4133=) c.12429G>T (p.Val4143=) | |
| 19 | g.38561263C>A | CA405668845 | RYR1 | c.843C>A c.825C>A c.12433C>A (p.Leu4145Met) c.12418C>A (p.Leu4140Met) c.12415C>A (p.Leu4139Met) c.5802C>A c.12400C>A (p.Leu4134Met) c.12430C>A (p.Leu4144Met) | |
| 19 | g.38561263C= | CA2335082580 | RYR1 | c.843C= c.825C= c.12433C= (p.Leu4145=) c.12418C= (p.Leu4140=) c.12415C= (p.Leu4139=) c.5802C= c.12400C= (p.Leu4134=) c.12430C= (p.Leu4144=) | |
| 19 | g.38561263C>G | CA405668847 | RYR1 | c.843C>G c.825C>G c.12433C>G (p.Leu4145Val) c.12418C>G (p.Leu4140Val) c.12415C>G (p.Leu4139Val) c.5802C>G c.12400C>G (p.Leu4134Val) c.12430C>G (p.Leu4144Val) | ClinVar dbSNP |
| 19 | g.38561263C>T | CA507355133 | RYR1 | c.843C>T c.825C>T c.12433C>T (p.Leu4145=) c.12418C>T (p.Leu4140=) c.12415C>T (p.Leu4139=) c.5802C>T c.12400C>T (p.Leu4134=) c.12430C>T (p.Leu4144=) | gnomAD v4 |
| 19 | g.38561264T>A | CA405668850 | RYR1 | c.844T>A c.826T>A c.12434T>A (p.Leu4145Gln) c.12419T>A (p.Leu4140Gln) c.12416T>A (p.Leu4139Gln) c.5803T>A c.12401T>A (p.Leu4134Gln) c.12431T>A (p.Leu4144Gln) | |
| 19 | g.38561264T>C | CA405668860 | RYR1 | c.844T>C c.826T>C c.12434T>C (p.Leu4145Pro) c.12419T>C (p.Leu4140Pro) c.12416T>C (p.Leu4139Pro) c.5803T>C c.12401T>C (p.Leu4134Pro) c.12431T>C (p.Leu4144Pro) | |
| 19 | g.38561264T>G | CA405668864 | RYR1 | c.844T>G c.826T>G c.12434T>G (p.Leu4145Arg) c.12419T>G (p.Leu4140Arg) c.12416T>G (p.Leu4139Arg) c.5803T>G c.12401T>G (p.Leu4134Arg) c.12431T>G (p.Leu4144Arg) | |
| 19 | g.38561265G>A | CA507355141 | RYR1 | c.845G>A c.827G>A c.12435G>A (p.Leu4145=) c.12420G>A (p.Leu4140=) c.12417G>A (p.Leu4139=) c.5804G>A c.12402G>A (p.Leu4134=) c.12432G>A (p.Leu4144=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38561265G>C | CA507355136 | RYR1 | c.845G>C c.827G>C c.12435G>C (p.Leu4145=) c.12420G>C (p.Leu4140=) c.12417G>C (p.Leu4139=) c.5804G>C c.12402G>C (p.Leu4134=) c.12432G>C (p.Leu4144=) | |
| 19 | g.38561265G= | CA2335082581 | RYR1 | c.845G= c.827G= c.12435G= (p.Leu4145=) c.12420G= (p.Leu4140=) c.12417G= (p.Leu4139=) c.5804G= c.12402G= (p.Leu4134=) c.12432G= (p.Leu4144=) | |
| 19 | g.38561265G>T | CA507355138 | RYR1 | c.845G>T c.827G>T c.12435G>T (p.Leu4145=) c.12420G>T (p.Leu4140=) c.12417G>T (p.Leu4139=) c.5804G>T c.12402G>T (p.Leu4134=) c.12432G>T (p.Leu4144=) | gnomAD v4 |
| 19 | g.38561266C>A | CA405668867 | RYR1 | c.846C>A c.828C>A c.12436C>A (p.Leu4146Met) c.12421C>A (p.Leu4141Met) c.12418C>A (p.Leu4140Met) c.5805C>A c.12403C>A (p.Leu4135Met) c.12433C>A (p.Leu4145Met) | |
| 19 | g.38561266C>G | CA405668882 | RYR1 | c.846C>G c.828C>G c.12436C>G (p.Leu4146Val) c.12421C>G (p.Leu4141Val) c.12418C>G (p.Leu4140Val) c.5805C>G c.12403C>G (p.Leu4135Val) c.12433C>G (p.Leu4145Val) | |
| 19 | g.38561266C>T | CA507355142 | RYR1 | c.846C>T c.828C>T c.12436C>T (p.Leu4146=) c.12421C>T (p.Leu4141=) c.12418C>T (p.Leu4140=) c.5805C>T c.12403C>T (p.Leu4135=) c.12433C>T (p.Leu4145=) | |
| 19 | g.38561267T>A | CA405668885 | RYR1 | c.847T>A c.829T>A c.12437T>A (p.Leu4146Gln) c.12422T>A (p.Leu4141Gln) c.12419T>A (p.Leu4140Gln) c.5806T>A c.12404T>A (p.Leu4135Gln) c.12434T>A (p.Leu4145Gln) | |
| 19 | g.38561267T>C | CA405668887 | RYR1 | c.847T>C c.829T>C c.12437T>C (p.Leu4146Pro) c.12422T>C (p.Leu4141Pro) c.12419T>C (p.Leu4140Pro) c.5806T>C c.12404T>C (p.Leu4135Pro) c.12434T>C (p.Leu4145Pro) | gnomAD v4 |
| 19 | g.38561267T>G | CA405668888 | RYR1 | c.847T>G c.829T>G c.12437T>G (p.Leu4146Arg) c.12422T>G (p.Leu4141Arg) c.12419T>G (p.Leu4140Arg) c.5806T>G c.12404T>G (p.Leu4135Arg) c.12434T>G (p.Leu4145Arg) | |
| 19 | g.38561268G>A | CA507355148 | RYR1 | c.848G>A c.830G>A c.12438G>A (p.Leu4146=) c.12423G>A (p.Leu4141=) c.12420G>A (p.Leu4140=) c.5807G>A c.12405G>A (p.Leu4135=) c.12435G>A (p.Leu4145=) | |
| 19 | g.38561268G>C | CA507355150 | RYR1 | c.848G>C c.830G>C c.12438G>C (p.Leu4146=) c.12423G>C (p.Leu4141=) c.12420G>C (p.Leu4140=) c.5807G>C c.12405G>C (p.Leu4135=) c.12435G>C (p.Leu4145=) | |
| 19 | g.38561268G>T | CA507355149 | RYR1 | c.848G>T c.830G>T c.12438G>T (p.Leu4146=) c.12423G>T (p.Leu4141=) c.12420G>T (p.Leu4140=) c.5807G>T c.12405G>T (p.Leu4135=) c.12435G>T (p.Leu4145=) | |
| 19 | g.38561269A>C | CA405668891 | RYR1 | c.849A>C c.831A>C c.12439A>C (p.Thr4147Pro) c.12424A>C (p.Thr4142Pro) c.12421A>C (p.Thr4141Pro) c.5808A>C c.12406A>C (p.Thr4136Pro) c.12436A>C (p.Thr4146Pro) | |
| 19 | g.38561269A>G | CA405668894 | RYR1 | c.849A>G c.831A>G c.12439A>G (p.Thr4147Ala) c.12424A>G (p.Thr4142Ala) c.12421A>G (p.Thr4141Ala) c.5808A>G c.12406A>G (p.Thr4136Ala) c.12436A>G (p.Thr4146Ala) | |
| 19 | g.38561269A>T | CA405668889 | RYR1 | c.849A>T c.831A>T c.12439A>T (p.Thr4147Ser) c.12424A>T (p.Thr4142Ser) c.12421A>T (p.Thr4141Ser) c.5808A>T c.12406A>T (p.Thr4136Ser) c.12436A>T (p.Thr4146Ser) | |
| 19 | g.38561270C>A | CA405668897 | RYR1 | c.850C>A c.832C>A c.12440C>A (p.Thr4147Asn) c.12425C>A (p.Thr4142Asn) c.12422C>A (p.Thr4141Asn) c.5809C>A c.12407C>A (p.Thr4136Asn) c.12437C>A (p.Thr4146Asn) | |
| 19 | g.38561270C= | CA2335082582 | RYR1 | c.850C= c.832C= c.12440C= (p.Thr4147=) c.12425C= (p.Thr4142=) c.12422C= (p.Thr4141=) c.5809C= c.12407C= (p.Thr4136=) c.12437C= (p.Thr4146=) | |
| 19 | g.38561270C>G | CA405668902 | RYR1 | c.850C>G c.832C>G c.12440C>G (p.Thr4147Ser) c.12425C>G (p.Thr4142Ser) c.12422C>G (p.Thr4141Ser) c.5809C>G c.12407C>G (p.Thr4136Ser) c.12437C>G (p.Thr4146Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38561270C>T | CA405668904 | RYR1 | c.850C>T c.832C>T c.12440C>T (p.Thr4147Ile) c.12425C>T (p.Thr4142Ile) c.12422C>T (p.Thr4141Ile) c.5809C>T c.12407C>T (p.Thr4136Ile) c.12437C>T (p.Thr4146Ile) | |
| 19 | g.38561271C>A | CA507355157 | RYR1 | c.851C>A c.833C>A c.12441C>A (p.Thr4147=) c.12426C>A (p.Thr4142=) c.12423C>A (p.Thr4141=) c.5810C>A c.12408C>A (p.Thr4136=) c.12438C>A (p.Thr4146=) | |
| 19 | g.38561271C= | CA2335082583 | RYR1 | c.851C= c.833C= c.12441C= (p.Thr4147=) c.12426C= (p.Thr4142=) c.12423C= (p.Thr4141=) c.5810C= c.12408C= (p.Thr4136=) c.12438C= (p.Thr4146=) | |
| 19 | g.38561271C>G | CA507355158 | RYR1 | c.851C>G c.833C>G c.12441C>G (p.Thr4147=) c.12426C>G (p.Thr4142=) c.12423C>G (p.Thr4141=) c.5810C>G c.12408C>G (p.Thr4136=) c.12438C>G (p.Thr4146=) | |
| 19 | g.38561271C>T | CA507355160 | RYR1 | c.851C>T c.833C>T c.12441C>T (p.Thr4147=) c.12426C>T (p.Thr4142=) c.12423C>T (p.Thr4141=) c.5810C>T c.12408C>T (p.Thr4136=) c.12438C>T (p.Thr4146=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38561272A>C | CA405668907 | RYR1 | c.852A>C c.834A>C c.12442A>C (p.Asn4148His) c.12427A>C (p.Asn4143His) c.12424A>C (p.Asn4142His) c.5811A>C c.12409A>C (p.Asn4137His) c.12439A>C (p.Asn4147His) | |
| 19 | g.38561272A>G | CA405668909 | RYR1 | c.852A>G c.834A>G c.12442A>G (p.Asn4148Asp) c.12427A>G (p.Asn4143Asp) c.12424A>G (p.Asn4142Asp) c.5811A>G c.12409A>G (p.Asn4137Asp) c.12439A>G (p.Asn4147Asp) | |
| 19 | g.38561272A>T | CA405668911 | RYR1 | c.852A>T c.834A>T c.12442A>T (p.Asn4148Tyr) c.12427A>T (p.Asn4143Tyr) c.12424A>T (p.Asn4142Tyr) c.5811A>T c.12409A>T (p.Asn4137Tyr) c.12439A>T (p.Asn4147Tyr) | |
| 19 | g.38561273A= | CA2335082584 | RYR1 | c.853A= c.835A= c.12443A= (p.Asn4148=) c.12428A= (p.Asn4143=) c.12425A= (p.Asn4142=) c.5812A= c.12410A= (p.Asn4137=) c.12440A= (p.Asn4147=) | |
| 19 | g.38561273A>C | CA405668913 | RYR1 | c.853A>C c.835A>C c.12443A>C (p.Asn4148Thr) c.12428A>C (p.Asn4143Thr) c.12425A>C (p.Asn4142Thr) c.5812A>C c.12410A>C (p.Asn4137Thr) c.12440A>C (p.Asn4147Thr) | ClinVar dbSNP |
| 19 | g.38561273A>G | CA405668916 | RYR1 | c.853A>G c.835A>G c.12443A>G (p.Asn4148Ser) c.12428A>G (p.Asn4143Ser) c.12425A>G (p.Asn4142Ser) c.5812A>G c.12410A>G (p.Asn4137Ser) c.12440A>G (p.Asn4147Ser) | dbSNP gnomAD v4 |
| 19 | g.38561273A>T | CA405668939 | RYR1 | c.853A>T c.835A>T c.12443A>T (p.Asn4148Ile) c.12428A>T (p.Asn4143Ile) c.12425A>T (p.Asn4142Ile) c.5812A>T c.12410A>T (p.Asn4137Ile) c.12440A>T (p.Asn4147Ile) | |
| 19 | g.38561274C>A | CA405668942 | RYR1 | c.854C>A c.836C>A c.12444C>A (p.Asn4148Lys) c.12429C>A (p.Asn4143Lys) c.12426C>A (p.Asn4142Lys) c.5813C>A c.12411C>A (p.Asn4137Lys) c.12441C>A (p.Asn4147Lys) | ClinVar dbSNP |
| 19 | g.38561274C= | CA2335082585 | RYR1 | c.854C= c.836C= c.12444C= (p.Asn4148=) c.12429C= (p.Asn4143=) c.12426C= (p.Asn4142=) c.5813C= c.12411C= (p.Asn4137=) c.12441C= (p.Asn4147=) | |
| 19 | g.38561274C>G | CA405668945 | RYR1 | c.854C>G c.836C>G c.12444C>G (p.Asn4148Lys) c.12429C>G (p.Asn4143Lys) c.12426C>G (p.Asn4142Lys) c.5813C>G c.12411C>G (p.Asn4137Lys) c.12441C>G (p.Asn4147Lys) | |
| 19 | g.38561274C>T | CA507355167 | RYR1 | c.854C>T c.836C>T c.12444C>T (p.Asn4148=) c.12429C>T (p.Asn4143=) c.12426C>T (p.Asn4142=) c.5813C>T c.12411C>T (p.Asn4137=) c.12441C>T (p.Asn4147=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38561275C>A | CA405668950 | RYR1 | c.855C>A c.837C>A c.12445C>A (p.Leu4149Met) c.12430C>A (p.Leu4144Met) c.12427C>A (p.Leu4143Met) c.5814C>A c.12412C>A (p.Leu4138Met) c.12442C>A (p.Leu4148Met) | |
| 19 | g.38561275C>G | CA405668952 | RYR1 | c.855C>G c.837C>G c.12445C>G (p.Leu4149Val) c.12430C>G (p.Leu4144Val) c.12427C>G (p.Leu4143Val) c.5814C>G c.12412C>G (p.Leu4138Val) c.12442C>G (p.Leu4148Val) | |
| 19 | g.38561275C>T | CA507355169 | RYR1 | c.855C>T c.837C>T c.12445C>T (p.Leu4149=) c.12430C>T (p.Leu4144=) c.12427C>T (p.Leu4143=) c.5814C>T c.12412C>T (p.Leu4138=) c.12442C>T (p.Leu4148=) | |
| 19 | g.38561276T>A | CA405668966 | RYR1 | c.856T>A c.838T>A c.12446T>A (p.Leu4149Gln) c.12431T>A (p.Leu4144Gln) c.12428T>A (p.Leu4143Gln) c.5815T>A c.12413T>A (p.Leu4138Gln) c.12443T>A (p.Leu4148Gln) | |
| 19 | g.38561276T>C | CA405668964 | RYR1 | c.856T>C c.838T>C c.12446T>C (p.Leu4149Pro) c.12431T>C (p.Leu4144Pro) c.12428T>C (p.Leu4143Pro) c.5815T>C c.12413T>C (p.Leu4138Pro) c.12443T>C (p.Leu4148Pro) | |
| 19 | g.38561276T>G | CA405668955 | RYR1 | c.856T>G c.838T>G c.12446T>G (p.Leu4149Arg) c.12431T>G (p.Leu4144Arg) c.12428T>G (p.Leu4143Arg) c.5815T>G c.12413T>G (p.Leu4138Arg) c.12443T>G (p.Leu4148Arg) | |
| 19 | g.38561277G>A | CA507355173 | RYR1 | c.857G>A c.839G>A c.12447G>A (p.Leu4149=) c.12432G>A (p.Leu4144=) c.12429G>A (p.Leu4143=) c.5816G>A c.12414G>A (p.Leu4138=) c.12444G>A (p.Leu4148=) | dbSNP |
| 19 | g.38561277G>C | CA507355175 | RYR1 | c.857G>C c.839G>C c.12447G>C (p.Leu4149=) c.12432G>C (p.Leu4144=) c.12429G>C (p.Leu4143=) c.5816G>C c.12414G>C (p.Leu4138=) c.12444G>C (p.Leu4148=) | gnomAD v4 |
| 19 | g.38561277G>T | CA507355178 | RYR1 | c.857G>T c.839G>T c.12447G>T (p.Leu4149=) c.12432G>T (p.Leu4144=) c.12429G>T (p.Leu4143=) c.5816G>T c.12414G>T (p.Leu4138=) c.12444G>T (p.Leu4148=) | |
| 19 | g.38561278T>A | CA405668968 | RYR1 | c.858T>A c.840T>A c.12448T>A (p.Ser4150Thr) c.12433T>A (p.Ser4145Thr) c.12430T>A (p.Ser4144Thr) c.5817T>A c.12415T>A (p.Ser4139Thr) c.12445T>A (p.Ser4149Thr) | |
| 19 | g.38561278T>C | CA405668969 | RYR1 | c.858T>C c.840T>C c.12448T>C (p.Ser4150Pro) c.12433T>C (p.Ser4145Pro) c.12430T>C (p.Ser4144Pro) c.5817T>C c.12415T>C (p.Ser4139Pro) c.12445T>C (p.Ser4149Pro) | |
| 19 | g.38561278T>G | CA405668971 | RYR1 | c.858T>G c.840T>G c.12448T>G (p.Ser4150Ala) c.12433T>G (p.Ser4145Ala) c.12430T>G (p.Ser4144Ala) c.5817T>G c.12415T>G (p.Ser4139Ala) c.12445T>G (p.Ser4149Ala) | dbSNP |
| 19 | g.38561278T= | CA2335082586 | RYR1 | c.858T= c.840T= c.12448T= (p.Ser4150=) c.12433T= (p.Ser4145=) c.12430T= (p.Ser4144=) c.5817T= c.12415T= (p.Ser4139=) c.12445T= (p.Ser4149=) | |
| 19 | g.38561279C>A | CA405668974 | RYR1 | c.859C>A c.841C>A c.12449C>A (p.Ser4150Ter) c.12434C>A (p.Ser4145Ter) c.12431C>A (p.Ser4144Ter) c.5818C>A c.12416C>A (p.Ser4139Ter) c.12446C>A (p.Ser4149Ter) | |
| 19 | g.38561279C= | CA2335082587 | RYR1 | c.859C= c.841C= c.12449C= (p.Ser4150=) c.12434C= (p.Ser4145=) c.12431C= (p.Ser4144=) c.5818C= c.12416C= (p.Ser4139=) c.12446C= (p.Ser4149=) | |
| 19 | g.38561279C>G | CA058887 | RYR1 | c.859C>G c.841C>G c.12449C>G (p.Ser4150Trp) c.12434C>G (p.Ser4145Trp) c.12431C>G (p.Ser4144Trp) c.5818C>G c.12416C>G (p.Ser4139Trp) c.12446C>G (p.Ser4149Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38561279C>T | CA405668978 | RYR1 | c.859C>T c.841C>T c.12449C>T (p.Ser4150Leu) c.12434C>T (p.Ser4145Leu) c.12431C>T (p.Ser4144Leu) c.5818C>T c.12416C>T (p.Ser4139Leu) c.12446C>T (p.Ser4149Leu) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38561280G>A | CA507355186 | RYR1 | c.860G>A c.842G>A c.12450G>A (p.Ser4150=) c.12435G>A (p.Ser4145=) c.12432G>A (p.Ser4144=) c.5819G>A c.12417G>A (p.Ser4139=) c.12447G>A (p.Ser4149=) | ClinVar dbSNP |
| 19 | g.38561280G>C | CA507355188 | RYR1 | c.860G>C c.842G>C c.12450G>C (p.Ser4150=) c.12435G>C (p.Ser4145=) c.12432G>C (p.Ser4144=) c.5819G>C c.12417G>C (p.Ser4139=) c.12447G>C (p.Ser4149=) | dbSNP |
| 19 | g.38561280G= | CA2335082588 | RYR1 | c.860G= c.842G= c.12450G= (p.Ser4150=) c.12435G= (p.Ser4145=) c.12432G= (p.Ser4144=) c.5819G= c.12417G= (p.Ser4139=) c.12447G= (p.Ser4149=) | |
| 19 | g.38561280G>T | CA507355189 | RYR1 | c.860G>T c.842G>T c.12450G>T (p.Ser4150=) c.12435G>T (p.Ser4145=) c.12432G>T (p.Ser4144=) c.5819G>T c.12417G>T (p.Ser4139=) c.12447G>T (p.Ser4149=) | |
| 19 | g.38561281G>A | CA405668979 | RYR1 | c.861G>A c.843G>A c.12451G>A (p.Glu4151Lys) c.12436G>A (p.Glu4146Lys) c.12433G>A (p.Glu4145Lys) c.5820G>A c.12418G>A (p.Glu4140Lys) c.12448G>A (p.Glu4150Lys) | |
| 19 | g.38561281G>C | CA405668980 | RYR1 | c.861G>C c.843G>C c.12451G>C (p.Glu4151Gln) c.12436G>C (p.Glu4146Gln) c.12433G>C (p.Glu4145Gln) c.5820G>C c.12418G>C (p.Glu4140Gln) c.12448G>C (p.Glu4150Gln) | |
| 19 | g.38561281G>T | CA405668981 | RYR1 | c.861G>T c.843G>T c.12451G>T (p.Glu4151Ter) c.12436G>T (p.Glu4146Ter) c.12433G>T (p.Glu4145Ter) c.5820G>T c.12418G>T (p.Glu4140Ter) c.12448G>T (p.Glu4150Ter) | |
| 19 | g.38561282A>C | CA405668984 | RYR1 | c.862A>C c.844A>C c.12452A>C (p.Glu4151Ala) c.12437A>C (p.Glu4146Ala) c.12434A>C (p.Glu4145Ala) c.5821A>C c.12419A>C (p.Glu4140Ala) c.12449A>C (p.Glu4150Ala) | |
| 19 | g.38561282A>G | CA405668986 | RYR1 | c.862A>G c.844A>G c.12452A>G (p.Glu4151Gly) c.12437A>G (p.Glu4146Gly) c.12434A>G (p.Glu4145Gly) c.5821A>G c.12419A>G (p.Glu4140Gly) c.12449A>G (p.Glu4150Gly) | |
| 19 | g.38561282A>T | CA405668988 | RYR1 | c.862A>T c.844A>T c.12452A>T (p.Glu4151Val) c.12437A>T (p.Glu4146Val) c.12434A>T (p.Glu4145Val) c.5821A>T c.12419A>T (p.Glu4140Val) c.12449A>T (p.Glu4150Val) | |
| 19 | g.38561283G>A | CA507355195 | RYR1 | c.863G>A c.845G>A c.12453G>A (p.Glu4151=) c.12438G>A (p.Glu4146=) c.12435G>A (p.Glu4145=) c.5822G>A c.12420G>A (p.Glu4140=) c.12450G>A (p.Glu4150=) | gnomAD v4 |
| 19 | g.38561283G>C | CA405668992 | RYR1 | c.863G>C c.845G>C c.12453G>C (p.Glu4151Asp) c.12438G>C (p.Glu4146Asp) c.12435G>C (p.Glu4145Asp) c.5822G>C c.12420G>C (p.Glu4140Asp) c.12450G>C (p.Glu4150Asp) | |
| 19 | g.38561283G>T | CA405668995 | RYR1 | c.863G>T c.845G>T c.12453G>T (p.Glu4151Asp) c.12438G>T (p.Glu4146Asp) c.12435G>T (p.Glu4145Asp) c.5822G>T c.12420G>T (p.Glu4140Asp) c.12450G>T (p.Glu4150Asp) | |
| 19 | g.38561284C>A | CA405668999 | RYR1 | c.864C>A c.846C>A c.12454C>A (p.His4152Asn) c.12439C>A (p.His4147Asn) c.12436C>A (p.His4146Asn) c.5823C>A c.12421C>A (p.His4141Asn) c.12451C>A (p.His4151Asn) | |
| 19 | g.38561284C>G | CA405669001 | RYR1 | c.864C>G c.846C>G c.12454C>G (p.His4152Asp) c.12439C>G (p.His4147Asp) c.12436C>G (p.His4146Asp) c.5823C>G c.12421C>G (p.His4141Asp) c.12451C>G (p.His4151Asp) | |
| 19 | g.38561284C>T | CA405668998 | RYR1 | c.864C>T c.846C>T c.12454C>T (p.His4152Tyr) c.12439C>T (p.His4147Tyr) c.12436C>T (p.His4146Tyr) c.5823C>T c.12421C>T (p.His4141Tyr) c.12451C>T (p.His4151Tyr) | |
| 19 | g.38561285A= | CA2335082589 | RYR1 | c.865A= c.847A= c.12455A= (p.His4152=) c.12440A= (p.His4147=) c.12437A= (p.His4146=) c.5824A= c.12422A= (p.His4141=) c.12452A= (p.His4151=) | |
| 19 | g.38561285A>C | CA058896 | RYR1 | c.865A>C c.847A>C c.12455A>C (p.His4152Pro) c.12440A>C (p.His4147Pro) c.12437A>C (p.His4146Pro) c.5824A>C c.12422A>C (p.His4141Pro) c.12452A>C (p.His4151Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38561285A>G | CA405669005 | RYR1 | c.865A>G c.847A>G c.12455A>G (p.His4152Arg) c.12440A>G (p.His4147Arg) c.12437A>G (p.His4146Arg) c.5824A>G c.12422A>G (p.His4141Arg) c.12452A>G (p.His4151Arg) | ClinVar gnomAD v4 |
| 19 | g.38561285A>T | CA405669009 | RYR1 | c.865A>T c.847A>T c.12455A>T (p.His4152Leu) c.12440A>T (p.His4147Leu) c.12437A>T (p.His4146Leu) c.5824A>T c.12422A>T (p.His4141Leu) c.12452A>T (p.His4151Leu) | dbSNP |
| 19 | g.38561286T>A | CA405669011 | RYR1 | c.866T>A c.848T>A c.12456T>A (p.His4152Gln) c.12441T>A (p.His4147Gln) c.12438T>A (p.His4146Gln) c.5825T>A c.12423T>A (p.His4141Gln) c.12453T>A (p.His4151Gln) | |
| 19 | g.38561286T>C | CA507355206 | RYR1 | c.866T>C c.848T>C c.12456T>C (p.His4152=) c.12441T>C (p.His4147=) c.12438T>C (p.His4146=) c.5825T>C c.12423T>C (p.His4141=) c.12453T>C (p.His4151=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38561286T>G | CA405669015 | RYR1 | c.866T>G c.848T>G c.12456T>G (p.His4152Gln) c.12441T>G (p.His4147Gln) c.12438T>G (p.His4146Gln) c.5825T>G c.12423T>G (p.His4141Gln) c.12453T>G (p.His4151Gln) | |
| 19 | g.38561286T= | CA2335082590 | RYR1 | c.866T= c.848T= c.12456T= (p.His4152=) c.12441T= (p.His4147=) c.12438T= (p.His4146=) c.5825T= c.12423T= (p.His4141=) c.12453T= (p.His4151=) | |
| 19 | g.38561287G>A | CA308105760 | RYR1 | c.867G>A c.849G>A c.12457G>A (p.Val4153Met) c.12442G>A (p.Val4148Met) c.12439G>A (p.Val4147Met) c.5826G>A c.12424G>A (p.Val4142Met) c.12454G>A (p.Val4152Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38561287G>C | CA405669021 | RYR1 | c.867G>C c.849G>C c.12457G>C (p.Val4153Leu) c.12442G>C (p.Val4148Leu) c.12439G>C (p.Val4147Leu) c.5826G>C c.12424G>C (p.Val4142Leu) c.12454G>C (p.Val4152Leu) | |
| 19 | g.38561287G= | CA2335082591 | RYR1 | c.867G= c.849G= c.12457G= (p.Val4153=) c.12442G= (p.Val4148=) c.12439G= (p.Val4147=) c.5826G= c.12424G= (p.Val4142=) c.12454G= (p.Val4152=) | |
| 19 | g.38561287G>T | CA405669024 | RYR1 | c.867G>T c.849G>T c.12457G>T (p.Val4153Leu) c.12442G>T (p.Val4148Leu) c.12439G>T (p.Val4147Leu) c.5826G>T c.12424G>T (p.Val4142Leu) c.12454G>T (p.Val4152Leu) | |
| 19 | g.38561288T>A | CA405669029 | RYR1 | c.868T>A c.850T>A c.12458T>A (p.Val4153Glu) c.12443T>A (p.Val4148Glu) c.12440T>A (p.Val4147Glu) c.5827T>A c.12425T>A (p.Val4142Glu) c.12455T>A (p.Val4152Glu) | |
| 19 | g.38561288T>C | CA405669031 | RYR1 | c.868T>C c.850T>C c.12458T>C (p.Val4153Ala) c.12443T>C (p.Val4148Ala) c.12440T>C (p.Val4147Ala) c.5827T>C c.12425T>C (p.Val4142Ala) c.12455T>C (p.Val4152Ala) | |
| 19 | g.38561288T>G | CA405669034 | RYR1 | c.868T>G c.850T>G c.12458T>G (p.Val4153Gly) c.12443T>G (p.Val4148Gly) c.12440T>G (p.Val4147Gly) c.5827T>G c.12425T>G (p.Val4142Gly) c.12455T>G (p.Val4152Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38561288T= | CA2335082592 | RYR1 | c.868T= c.850T= c.12458T= (p.Val4153=) c.12443T= (p.Val4148=) c.12440T= (p.Val4147=) c.5827T= c.12425T= (p.Val4142=) c.12455T= (p.Val4152=) | |
| 19 | g.38561289G>A | CA058907 | RYR1 | c.869G>A c.851G>A c.12459G>A (p.Val4153=) c.12444G>A (p.Val4148=) c.12441G>A (p.Val4147=) c.5828G>A c.12426G>A (p.Val4142=) c.12456G>A (p.Val4152=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38561289G>C | CA507355215 | RYR1 | c.869G>C c.851G>C c.12459G>C (p.Val4153=) c.12444G>C (p.Val4148=) c.12441G>C (p.Val4147=) c.5828G>C c.12426G>C (p.Val4142=) c.12456G>C (p.Val4152=) | dbSNP |
| 19 | g.38561289G= | CA2335082593 | RYR1 | c.869G= c.851G= c.12459G= (p.Val4153=) c.12444G= (p.Val4148=) c.12441G= (p.Val4147=) c.5828G= c.12426G= (p.Val4142=) c.12456G= (p.Val4152=) | |
| 19 | g.38561289G>T | CA507355217 | RYR1 | c.869G>T c.851G>T c.12459G>T (p.Val4153=) c.12444G>T (p.Val4148=) c.12441G>T (p.Val4147=) c.5828G>T c.12426G>T (p.Val4142=) c.12456G>T (p.Val4152=) | |
| 19 | g.38561290C>A | CA405669046 | RYR1 | c.870C>A c.852C>A c.12460C>A (p.Pro4154Thr) c.12445C>A (p.Pro4149Thr) c.12442C>A (p.Pro4148Thr) c.5829C>A c.12427C>A (p.Pro4143Thr) c.12457C>A (p.Pro4153Thr) | |
| 19 | g.38561290C>G | CA405669043 | RYR1 | c.870C>G c.852C>G c.12460C>G (p.Pro4154Ala) c.12445C>G (p.Pro4149Ala) c.12442C>G (p.Pro4148Ala) c.5829C>G c.12427C>G (p.Pro4143Ala) c.12457C>G (p.Pro4153Ala) | |
| 19 | g.38561290C>T | CA405669039 | RYR1 | c.870C>T c.852C>T c.12460C>T (p.Pro4154Ser) c.12445C>T (p.Pro4149Ser) c.12442C>T (p.Pro4148Ser) c.5829C>T c.12427C>T (p.Pro4143Ser) c.12457C>T (p.Pro4153Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.38561292_38561299del | CA2584908834 | RYR1 | c.872_879del c.854_861del c.12462_12469del (p.His4155SerfsTer14) c.12447_12454del (p.His4150SerfsTer14) c.12444_12451del (p.His4149SerfsTer14) c.5831_5838del c.12429_12436del (p.His4144SerfsTer14) c.12459_12466del (p.His4154SerfsTer14) | gnomAD v4 |
| 19 | g.38561291C>A | CA405669054 | RYR1 | c.871C>A c.853C>A c.12461C>A (p.Pro4154Gln) c.12446C>A (p.Pro4149Gln) c.12443C>A (p.Pro4148Gln) c.5830C>A c.12428C>A (p.Pro4143Gln) c.12458C>A (p.Pro4153Gln) | |
| 19 | g.38561291C= | CA2335082594 | RYR1 | c.871C= c.853C= c.12461C= (p.Pro4154=) c.12446C= (p.Pro4149=) c.12443C= (p.Pro4148=) c.5830C= c.12428C= (p.Pro4143=) c.12458C= (p.Pro4153=) | |
| 19 | g.38561291C>G | CA405669057 | RYR1 | c.871C>G c.853C>G c.12461C>G (p.Pro4154Arg) c.12446C>G (p.Pro4149Arg) c.12443C>G (p.Pro4148Arg) c.5830C>G c.12428C>G (p.Pro4143Arg) c.12458C>G (p.Pro4153Arg) | |
| 19 | g.38561291C>T | CA058925 | RYR1 | c.871C>T c.853C>T c.12461C>T (p.Pro4154Leu) c.12446C>T (p.Pro4149Leu) c.12443C>T (p.Pro4148Leu) c.5830C>T c.12428C>T (p.Pro4143Leu) c.12458C>T (p.Pro4153Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38561292G>A | CA058936 | RYR1 | c.872G>A c.854G>A c.12462G>A (p.Pro4154=) c.12447G>A (p.Pro4149=) c.12444G>A (p.Pro4148=) c.5831G>A c.12429G>A (p.Pro4143=) c.12459G>A (p.Pro4153=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38561292G>C | CA507355225 | RYR1 | c.872G>C c.854G>C c.12462G>C (p.Pro4154=) c.12447G>C (p.Pro4149=) c.12444G>C (p.Pro4148=) c.5831G>C c.12429G>C (p.Pro4143=) c.12459G>C (p.Pro4153=) | dbSNP |
| 19 | g.38561292G= | CA2335082595 | RYR1 | c.872G= c.854G= c.12462G= (p.Pro4154=) c.12447G= (p.Pro4149=) c.12444G= (p.Pro4148=) c.5831G= c.12429G= (p.Pro4143=) c.12459G= (p.Pro4153=) | |
| 19 | g.38561292G>T | CA058943 | RYR1 | c.872G>T c.854G>T c.12462G>T (p.Pro4154=) c.12447G>T (p.Pro4149=) c.12444G>T (p.Pro4148=) c.5831G>T c.12429G>T (p.Pro4143=) c.12459G>T (p.Pro4153=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38561293C>A | CA405669064 | RYR1 | c.873C>A c.855C>A c.12463C>A (p.His4155Asn) c.12448C>A (p.His4150Asn) c.12445C>A (p.His4149Asn) c.5832C>A c.12430C>A (p.His4144Asn) c.12460C>A (p.His4154Asn) | |
| 19 | g.38561293C= | CA2335082596 | RYR1 | c.873C= c.855C= c.12463C= (p.His4155=) c.12448C= (p.His4150=) c.12445C= (p.His4149=) c.5832C= c.12430C= (p.His4144=) c.12460C= (p.His4154=) | |
| 19 | g.38561293C>G | CA058949 | RYR1 | c.873C>G c.855C>G c.12463C>G (p.His4155Asp) c.12448C>G (p.His4150Asp) c.12445C>G (p.His4149Asp) c.5832C>G c.12430C>G (p.His4144Asp) c.12460C>G (p.His4154Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38561293C>T | CA405669075 | RYR1 | c.873C>T c.855C>T c.12463C>T (p.His4155Tyr) c.12448C>T (p.His4150Tyr) c.12445C>T (p.His4149Tyr) c.5832C>T c.12430C>T (p.His4144Tyr) c.12460C>T (p.His4154Tyr) | |
| 19 | g.38561294A>C | CA405669079 | RYR1 | c.874A>C c.856A>C c.12464A>C (p.His4155Pro) c.12449A>C (p.His4150Pro) c.12446A>C (p.His4149Pro) c.5833A>C c.12431A>C (p.His4144Pro) c.12461A>C (p.His4154Pro) | |
| 19 | g.38561294A>G | CA405669087 | RYR1 | c.874A>G c.856A>G c.12464A>G (p.His4155Arg) c.12449A>G (p.His4150Arg) c.12446A>G (p.His4149Arg) c.5833A>G c.12431A>G (p.His4144Arg) c.12461A>G (p.His4154Arg) | |
| 19 | g.38561294A>T | CA405669090 | RYR1 | c.874A>T c.856A>T c.12464A>T (p.His4155Leu) c.12449A>T (p.His4150Leu) c.12446A>T (p.His4149Leu) c.5833A>T c.12431A>T (p.His4144Leu) c.12461A>T (p.His4154Leu) | ClinVar |
| 19 | g.38561295T>A | CA405669095 | RYR1 | c.875T>A c.857T>A c.12465T>A (p.His4155Gln) c.12450T>A (p.His4150Gln) c.12447T>A (p.His4149Gln) c.5834T>A c.12432T>A (p.His4144Gln) c.12462T>A (p.His4154Gln) | |
| 19 | g.38561295T>C | CA507355236 | RYR1 | c.875T>C c.857T>C c.12465T>C (p.His4155=) c.12450T>C (p.His4150=) c.12447T>C (p.His4149=) c.5834T>C c.12432T>C (p.His4144=) c.12462T>C (p.His4154=) | dbSNP |
| 19 | g.38561295T>G | CA405669099 | RYR1 | c.875T>G c.857T>G c.12465T>G (p.His4155Gln) c.12450T>G (p.His4150Gln) c.12447T>G (p.His4149Gln) c.5834T>G c.12432T>G (p.His4144Gln) c.12462T>G (p.His4154Gln) | |
| 19 | g.38561295T= | CA2335082597 | RYR1 | c.875T= c.857T= c.12465T= (p.His4155=) c.12450T= (p.His4150=) c.12447T= (p.His4149=) c.5834T= c.12432T= (p.His4144=) c.12462T= (p.His4154=) | |
| 19 | g.38561296G>A | CA405669114 | RYR1 | c.876G>A c.858G>A c.12466G>A (p.Asp4156Asn) c.12451G>A (p.Asp4151Asn) c.12448G>A (p.Asp4150Asn) c.5835G>A c.12433G>A (p.Asp4145Asn) c.12463G>A (p.Asp4155Asn) | gnomAD v4 |
| 19 | g.38561296G>C | CA405669111 | RYR1 | c.876G>C c.858G>C c.12466G>C (p.Asp4156His) c.12451G>C (p.Asp4151His) c.12448G>C (p.Asp4150His) c.5835G>C c.12433G>C (p.Asp4145His) c.12463G>C (p.Asp4155His) | |
| 19 | g.38561296G>T | CA405669102 | RYR1 | c.876G>T c.858G>T c.12466G>T (p.Asp4156Tyr) c.12451G>T (p.Asp4151Tyr) c.12448G>T (p.Asp4150Tyr) c.5835G>T c.12433G>T (p.Asp4145Tyr) c.12463G>T (p.Asp4155Tyr) | |
| 19 | g.38561296_38561310dup | CA2584908835 | RYR1 | c.876_890dup c.858_872dup c.12466_12480dup (p.His4160_Asn4161insAspProArgLeuHis) c.12451_12465dup (p.His4155_Asn4156insAspProArgLeuHis) c.12448_12462dup (p.His4154_Asn4155insAspProArgLeuHis) c.5835_5849dup c.12433_12447dup (p.His4149_Asn4150insAspProArgLeuHis) c.12463_12477dup (p.His4159_Asn4160insAspProArgLeuHis) | gnomAD v4 |
| 19 | g.38561297A= | CA2335082598 | RYR1 | c.877A= c.859A= c.12467A= (p.Asp4156=) c.12452A= (p.Asp4151=) c.12449A= (p.Asp4150=) c.5836A= c.12434A= (p.Asp4145=) c.12464A= (p.Asp4155=) | |
| 19 | g.38561297A>C | CA405669118 | RYR1 | c.877A>C c.859A>C c.12467A>C (p.Asp4156Ala) c.12452A>C (p.Asp4151Ala) c.12449A>C (p.Asp4150Ala) c.5836A>C c.12434A>C (p.Asp4145Ala) c.12464A>C (p.Asp4155Ala) | dbSNP |
| 19 | g.38561297A>G | CA405669115 | RYR1 | c.877A>G c.859A>G c.12467A>G (p.Asp4156Gly) c.12452A>G (p.Asp4151Gly) c.12449A>G (p.Asp4150Gly) c.5836A>G c.12434A>G (p.Asp4145Gly) c.12464A>G (p.Asp4155Gly) | gnomAD v4 |
| 19 | g.38561297A>T | CA405669122 | RYR1 | c.877A>T c.859A>T c.12467A>T (p.Asp4156Val) c.12452A>T (p.Asp4151Val) c.12449A>T (p.Asp4150Val) c.5836A>T c.12434A>T (p.Asp4145Val) c.12464A>T (p.Asp4155Val) | |
| 19 | g.38561298C>A | CA405669125 | RYR1 | c.878C>A c.860C>A c.12468C>A (p.Asp4156Glu) c.12453C>A (p.Asp4151Glu) c.12450C>A (p.Asp4150Glu) c.5837C>A c.12435C>A (p.Asp4145Glu) c.12465C>A (p.Asp4155Glu) | |
| 19 | g.38561298C= | CA2335082599 | RYR1 | c.878C= c.860C= c.12468C= (p.Asp4156=) c.12453C= (p.Asp4151=) c.12450C= (p.Asp4150=) c.5837C= c.12435C= (p.Asp4145=) c.12465C= (p.Asp4155=) | |
| 19 | g.38561298C>G | CA405669128 | RYR1 | c.878C>G c.860C>G c.12468C>G (p.Asp4156Glu) c.12453C>G (p.Asp4151Glu) c.12450C>G (p.Asp4150Glu) c.5837C>G c.12435C>G (p.Asp4145Glu) c.12465C>G (p.Asp4155Glu) | |
| 19 | g.38561298C>T | CA058971 | RYR1 | c.878C>T c.860C>T c.12468C>T (p.Asp4156=) c.12453C>T (p.Asp4151=) c.12450C>T (p.Asp4150=) c.5837C>T c.12435C>T (p.Asp4145=) c.12465C>T (p.Asp4155=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38561299C>A | CA405669131 | RYR1 | c.879C>A c.861C>A c.12469C>A (p.Pro4157Thr) c.12454C>A (p.Pro4152Thr) c.12451C>A (p.Pro4151Thr) c.5838C>A c.12436C>A (p.Pro4146Thr) c.12466C>A (p.Pro4156Thr) | |
| 19 | g.38561299C>G | CA405669142 | RYR1 | c.879C>G c.861C>G c.12469C>G (p.Pro4157Ala) c.12454C>G (p.Pro4152Ala) c.12451C>G (p.Pro4151Ala) c.5838C>G c.12436C>G (p.Pro4146Ala) c.12466C>G (p.Pro4156Ala) | |
| 19 | g.38561299C>T | CA405669134 | RYR1 | c.879C>T c.861C>T c.12469C>T (p.Pro4157Ser) c.12454C>T (p.Pro4152Ser) c.12451C>T (p.Pro4151Ser) c.5838C>T c.12436C>T (p.Pro4146Ser) c.12466C>T (p.Pro4156Ser) | gnomAD v4 |
| 19 | g.38561300C>A | CA405669146 | RYR1 | c.880C>A c.862C>A c.12470C>A (p.Pro4157His) c.12455C>A (p.Pro4152His) c.12452C>A (p.Pro4151His) c.5839C>A c.12437C>A (p.Pro4146His) c.12467C>A (p.Pro4156His) | dbSNP |
| 19 | g.38561300C= | CA2335082600 | RYR1 | c.880C= c.862C= c.12470C= (p.Pro4157=) c.12455C= (p.Pro4152=) c.12452C= (p.Pro4151=) c.5839C= c.12437C= (p.Pro4146=) c.12467C= (p.Pro4156=) | |
| 19 | g.38561300C>G | CA405669148 | RYR1 | c.880C>G c.862C>G c.12470C>G (p.Pro4157Arg) c.12455C>G (p.Pro4152Arg) c.12452C>G (p.Pro4151Arg) c.5839C>G c.12437C>G (p.Pro4146Arg) c.12467C>G (p.Pro4156Arg) | |
| 19 | g.38561300C>T | CA308105811 | RYR1 | c.880C>T c.862C>T c.12470C>T (p.Pro4157Leu) c.12455C>T (p.Pro4152Leu) c.12452C>T (p.Pro4151Leu) c.5839C>T c.12437C>T (p.Pro4146Leu) c.12467C>T (p.Pro4156Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38561301T>A | CA507355249 | RYR1 | c.881T>A c.863T>A c.12471T>A (p.Pro4157=) c.12456T>A (p.Pro4152=) c.12453T>A (p.Pro4151=) c.5840T>A c.12438T>A (p.Pro4146=) c.12468T>A (p.Pro4156=) | |
| 19 | g.38561301T>C | CA507355251 | RYR1 | c.881T>C c.863T>C c.12471T>C (p.Pro4157=) c.12456T>C (p.Pro4152=) c.12453T>C (p.Pro4151=) c.5840T>C c.12438T>C (p.Pro4146=) c.12468T>C (p.Pro4156=) | ClinVar |
| 19 | g.38561301T>G | CA507355253 | RYR1 | c.881T>G c.863T>G c.12471T>G (p.Pro4157=) c.12456T>G (p.Pro4152=) c.12453T>G (p.Pro4151=) c.5840T>G c.12438T>G (p.Pro4146=) c.12468T>G (p.Pro4156=) | dbSNP |
| 19 | g.38561301T= | CA2335082601 | RYR1 | c.881T= c.863T= c.12471T= (p.Pro4157=) c.12456T= (p.Pro4152=) c.12453T= (p.Pro4151=) c.5840T= c.12438T= (p.Pro4146=) c.12468T= (p.Pro4156=) | |
| 19 | g.38561302C>A | CA405669149 | RYR1 | c.882C>A c.864C>A c.12472C>A (p.Arg4158Ser) c.12457C>A (p.Arg4153Ser) c.12454C>A (p.Arg4152Ser) c.5841C>A c.12439C>A (p.Arg4147Ser) c.12469C>A (p.Arg4157Ser) | |
| 19 | g.38561302C= | CA2335082602 | RYR1 | c.882C= c.864C= c.12472C= (p.Arg4158=) c.12457C= (p.Arg4153=) c.12454C= (p.Arg4152=) c.5841C= c.12439C= (p.Arg4147=) c.12469C= (p.Arg4157=) | |
| 19 | g.38561302C>G | CA405669150 | RYR1 | c.882C>G c.864C>G c.12472C>G (p.Arg4158Gly) c.12457C>G (p.Arg4153Gly) c.12454C>G (p.Arg4152Gly) c.5841C>G c.12439C>G (p.Arg4147Gly) c.12469C>G (p.Arg4157Gly) | gnomAD v4 |
| 19 | g.38561302C>T | CA308105813 | RYR1 | c.882C>T c.864C>T c.12472C>T (p.Arg4158Cys) c.12457C>T (p.Arg4153Cys) c.12454C>T (p.Arg4152Cys) c.5841C>T c.12439C>T (p.Arg4147Cys) c.12469C>T (p.Arg4157Cys) | dbSNP gnomAD v4 |
| 19 | g.38561303G>A | CA405669151 | RYR1 | c.883G>A c.865G>A c.12473G>A (p.Arg4158His) c.12458G>A (p.Arg4153His) c.12455G>A (p.Arg4152His) c.5842G>A c.12440G>A (p.Arg4147His) c.12470G>A (p.Arg4157His) | ClinVar |
| 19 | g.38561303G>C | CA405669154 | RYR1 | c.883G>C c.865G>C c.12473G>C (p.Arg4158Pro) c.12458G>C (p.Arg4153Pro) c.12455G>C (p.Arg4152Pro) c.5842G>C c.12440G>C (p.Arg4147Pro) c.12470G>C (p.Arg4157Pro) | |
| 19 | g.38561303G>T | CA405669162 | RYR1 | c.883G>T c.865G>T c.12473G>T (p.Arg4158Leu) c.12458G>T (p.Arg4153Leu) c.12455G>T (p.Arg4152Leu) c.5842G>T c.12440G>T (p.Arg4147Leu) c.12470G>T (p.Arg4157Leu) | |
| 19 | g.38561304C>A | CA507355259 | RYR1 | c.884C>A c.866C>A c.12474C>A (p.Arg4158=) c.12459C>A (p.Arg4153=) c.12456C>A (p.Arg4152=) c.5843C>A c.12441C>A (p.Arg4147=) c.12471C>A (p.Arg4157=) | |
| 19 | g.38561304C= | CA2335082603 | RYR1 | c.884C= c.866C= c.12474C= (p.Arg4158=) c.12459C= (p.Arg4153=) c.12456C= (p.Arg4152=) c.5843C= c.12441C= (p.Arg4147=) c.12471C= (p.Arg4157=) | |
| 19 | g.38561304C>G | CA507355261 | RYR1 | c.884C>G c.866C>G c.12474C>G (p.Arg4158=) c.12459C>G (p.Arg4153=) c.12456C>G (p.Arg4152=) c.5843C>G c.12441C>G (p.Arg4147=) c.12471C>G (p.Arg4157=) | dbSNP |
| 19 | g.38561304C>T | CA507355263 | RYR1 | c.884C>T c.866C>T c.12474C>T (p.Arg4158=) c.12459C>T (p.Arg4153=) c.12456C>T (p.Arg4152=) c.5843C>T c.12441C>T (p.Arg4147=) c.12471C>T (p.Arg4157=) | ClinVar COSMIC |
| 19 | g.38561305C>A | CA405669164 | RYR1 | c.885C>A c.867C>A c.12475C>A (p.Leu4159Met) c.12460C>A (p.Leu4154Met) c.12457C>A (p.Leu4153Met) c.5844C>A c.12442C>A (p.Leu4148Met) c.12472C>A (p.Leu4158Met) | |
| 19 | g.38561305C>G | CA405669166 | RYR1 | c.885C>G c.867C>G c.12475C>G (p.Leu4159Val) c.12460C>G (p.Leu4154Val) c.12457C>G (p.Leu4153Val) c.5844C>G c.12442C>G (p.Leu4148Val) c.12472C>G (p.Leu4158Val) | |
| 19 | g.38561305C>T | CA507355264 | RYR1 | c.885C>T c.867C>T c.12475C>T (p.Leu4159=) c.12460C>T (p.Leu4154=) c.12457C>T (p.Leu4153=) c.5844C>T c.12442C>T (p.Leu4148=) c.12472C>T (p.Leu4158=) | |
| 19 | g.38561306T>A | CA405669169 | RYR1 | c.886T>A c.868T>A c.12476T>A (p.Leu4159Gln) c.12461T>A (p.Leu4154Gln) c.12458T>A (p.Leu4153Gln) c.5845T>A c.12443T>A (p.Leu4148Gln) c.12473T>A (p.Leu4158Gln) | |
| 19 | g.38561306T>C | CA405669172 | RYR1 | c.886T>C c.868T>C c.12476T>C (p.Leu4159Pro) c.12461T>C (p.Leu4154Pro) c.12458T>C (p.Leu4153Pro) c.5845T>C c.12443T>C (p.Leu4148Pro) c.12473T>C (p.Leu4158Pro) | gnomAD v4 |
| 19 | g.38561306T>G | CA405669176 | RYR1 | c.886T>G c.868T>G c.12476T>G (p.Leu4159Arg) c.12461T>G (p.Leu4154Arg) c.12458T>G (p.Leu4153Arg) c.5845T>G c.12443T>G (p.Leu4148Arg) c.12473T>G (p.Leu4158Arg) | gnomAD v4 |
| 19 | g.38561307G>A | CA507355272 | RYR1 | c.887G>A c.869G>A c.12477G>A (p.Leu4159=) c.12462G>A (p.Leu4154=) c.12459G>A (p.Leu4153=) c.5846G>A c.12444G>A (p.Leu4148=) c.12474G>A (p.Leu4158=) | |
| 19 | g.38561307G>C | CA507355274 | RYR1 | c.887G>C c.869G>C c.12477G>C (p.Leu4159=) c.12462G>C (p.Leu4154=) c.12459G>C (p.Leu4153=) c.5846G>C c.12444G>C (p.Leu4148=) c.12474G>C (p.Leu4158=) | |
| 19 | g.38561307G= | CA2335082604 | RYR1 | c.887G= c.869G= c.12477G= (p.Leu4159=) c.12462G= (p.Leu4154=) c.12459G= (p.Leu4153=) c.5846G= c.12444G= (p.Leu4148=) c.12474G= (p.Leu4158=) | |
| 19 | g.38561307G>T | CA058982 | RYR1 | c.887G>T c.869G>T c.12477G>T (p.Leu4159=) c.12462G>T (p.Leu4154=) c.12459G>T (p.Leu4153=) c.5846G>T c.12444G>T (p.Leu4148=) c.12474G>T (p.Leu4158=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38561308C>A | CA405669192 | RYR1 | c.888C>A c.870C>A c.12478C>A (p.His4160Asn) c.12463C>A (p.His4155Asn) c.12460C>A (p.His4154Asn) c.5847C>A c.12445C>A (p.His4149Asn) c.12475C>A (p.His4159Asn) | |
| 19 | g.38561308C>G | CA405669189 | RYR1 | c.888C>G c.870C>G c.12478C>G (p.His4160Asp) c.12463C>G (p.His4155Asp) c.12460C>G (p.His4154Asp) c.5847C>G c.12445C>G (p.His4149Asp) c.12475C>G (p.His4159Asp) | |
| 19 | g.38561308C>T | CA405669185 | RYR1 | c.888C>T c.870C>T c.12478C>T (p.His4160Tyr) c.12463C>T (p.His4155Tyr) c.12460C>T (p.His4154Tyr) c.5847C>T c.12445C>T (p.His4149Tyr) c.12475C>T (p.His4159Tyr) | |
| 19 | g.38561309A= | CA2335082605 | RYR1 | c.889A= c.871A= c.12479A= (p.His4160=) c.12464A= (p.His4155=) c.12461A= (p.His4154=) c.5848A= c.12446A= (p.His4149=) c.12476A= (p.His4159=) | |
| 19 | g.38561309A>C | CA405669195 | RYR1 | c.889A>C c.871A>C c.12479A>C (p.His4160Pro) c.12464A>C (p.His4155Pro) c.12461A>C (p.His4154Pro) c.5848A>C c.12446A>C (p.His4149Pro) c.12476A>C (p.His4159Pro) | |
| 19 | g.38561309A>G | CA405669197 | RYR1 | c.889A>G c.871A>G c.12479A>G (p.His4160Arg) c.12464A>G (p.His4155Arg) c.12461A>G (p.His4154Arg) c.5848A>G c.12446A>G (p.His4149Arg) c.12476A>G (p.His4159Arg) | dbSNP |
| 19 | g.38561309A>T | CA058989 | RYR1 | c.889A>T c.871A>T c.12479A>T (p.His4160Leu) c.12464A>T (p.His4155Leu) c.12461A>T (p.His4154Leu) c.5848A>T c.12446A>T (p.His4149Leu) c.12476A>T (p.His4159Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38561310C>A | CA405669204 | RYR1 | c.890C>A c.872C>A c.12480C>A (p.His4160Gln) c.12465C>A (p.His4155Gln) c.12462C>A (p.His4154Gln) c.5849C>A c.12447C>A (p.His4149Gln) c.12477C>A (p.His4159Gln) | |
| 19 | g.38561310C>G | CA405669209 | RYR1 | c.890C>G c.872C>G c.12480C>G (p.His4160Gln) c.12465C>G (p.His4155Gln) c.12462C>G (p.His4154Gln) c.5849C>G c.12447C>G (p.His4149Gln) c.12477C>G (p.His4159Gln) | |
| 19 | g.38561310C>T | CA507355284 | RYR1 | c.890C>T c.872C>T c.12480C>T (p.His4160=) c.12465C>T (p.His4155=) c.12462C>T (p.His4154=) c.5849C>T c.12447C>T (p.His4149=) c.12477C>T (p.His4159=) | |
| 19 | g.38561311A= | CA2335082606 | RYR1 | c.891A= c.873A= c.12481A= (p.Asn4161=) c.12466A= (p.Asn4156=) c.12463A= (p.Asn4155=) c.5850A= c.12448A= (p.Asn4150=) c.12478A= (p.Asn4160=) | |
| 19 | g.38561311A>C | CA405669212 | RYR1 | c.891A>C c.873A>C c.12481A>C (p.Asn4161His) c.12466A>C (p.Asn4156His) c.12463A>C (p.Asn4155His) c.5850A>C c.12448A>C (p.Asn4150His) c.12478A>C (p.Asn4160His) | |
| 19 | g.38561311A>G | CA405669215 | RYR1 | c.891A>G c.873A>G c.12481A>G (p.Asn4161Asp) c.12466A>G (p.Asn4156Asp) c.12463A>G (p.Asn4155Asp) c.5850A>G c.12448A>G (p.Asn4150Asp) c.12478A>G (p.Asn4160Asp) | |
| 19 | g.38561311A>T | CA405669218 | RYR1 | c.891A>T c.873A>T c.12481A>T (p.Asn4161Tyr) c.12466A>T (p.Asn4156Tyr) c.12463A>T (p.Asn4155Tyr) c.5850A>T c.12448A>T (p.Asn4150Tyr) c.12478A>T (p.Asn4160Tyr) | dbSNP gnomAD v4 |
| 19 | g.38561312A= | CA2335082607 | RYR1 | c.892A= c.874A= c.12482A= (p.Asn4161=) c.12467A= (p.Asn4156=) c.12464A= (p.Asn4155=) c.5851A= c.12449A= (p.Asn4150=) c.12479A= (p.Asn4160=) | |
| 19 | g.38561312A>C | CA405669226 | RYR1 | c.892A>C c.874A>C c.12482A>C (p.Asn4161Thr) c.12467A>C (p.Asn4156Thr) c.12464A>C (p.Asn4155Thr) c.5851A>C c.12449A>C (p.Asn4150Thr) c.12479A>C (p.Asn4160Thr) | |
| 19 | g.38561312A>G | CA405669228 | RYR1 | c.892A>G c.874A>G c.12482A>G (p.Asn4161Ser) c.12467A>G (p.Asn4156Ser) c.12464A>G (p.Asn4155Ser) c.5851A>G c.12449A>G (p.Asn4150Ser) c.12479A>G (p.Asn4160Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38561312A>T | CA080690 | RYR1 | c.892A>T c.874A>T c.12482A>T (p.Asn4161Ile) c.12467A>T (p.Asn4156Ile) c.12464A>T (p.Asn4155Ile) c.5851A>T c.12449A>T (p.Asn4150Ile) c.12479A>T (p.Asn4160Ile) | |
| 19 | g.38561313C>A | CA405669229 | RYR1 | c.893C>A c.875C>A c.12483C>A (p.Asn4161Lys) c.12468C>A (p.Asn4156Lys) c.12465C>A (p.Asn4155Lys) c.5852C>A c.12450C>A (p.Asn4150Lys) c.12480C>A (p.Asn4160Lys) | |
| 19 | g.38561313C>G | CA405669230 | RYR1 | c.893C>G c.875C>G c.12483C>G (p.Asn4161Lys) c.12468C>G (p.Asn4156Lys) c.12465C>G (p.Asn4155Lys) c.5852C>G c.12450C>G (p.Asn4150Lys) c.12480C>G (p.Asn4160Lys) | |
| 19 | g.38561313C>T | CA507355292 | RYR1 | c.893C>T c.875C>T c.12483C>T (p.Asn4161=) c.12468C>T (p.Asn4156=) c.12465C>T (p.Asn4155=) c.5852C>T c.12450C>T (p.Asn4150=) c.12480C>T (p.Asn4160=) | |
| 19 | g.38561314T>A | CA405669233 | RYR1 | c.894T>A c.876T>A c.12484T>A (p.Phe4162Ile) c.12469T>A (p.Phe4157Ile) c.12466T>A (p.Phe4156Ile) c.5853T>A c.12451T>A (p.Phe4151Ile) c.12481T>A (p.Phe4161Ile) | gnomAD v4 |
| 19 | g.38561314T>C | CA405669235 | RYR1 | c.894T>C c.876T>C c.12484T>C (p.Phe4162Leu) c.12469T>C (p.Phe4157Leu) c.12466T>C (p.Phe4156Leu) c.5853T>C c.12451T>C (p.Phe4151Leu) c.12481T>C (p.Phe4161Leu) | |
| 19 | g.38561314T>G | CA405669232 | RYR1 | c.894T>G c.876T>G c.12484T>G (p.Phe4162Val) c.12469T>G (p.Phe4157Val) c.12466T>G (p.Phe4156Val) c.5853T>G c.12451T>G (p.Phe4151Val) c.12481T>G (p.Phe4161Val) | COSMIC |
| 19 | g.38561315T>A | CA405669238 | RYR1 | c.895T>A c.877T>A c.12485T>A (p.Phe4162Tyr) c.12470T>A (p.Phe4157Tyr) c.12467T>A (p.Phe4156Tyr) c.5854T>A c.12452T>A (p.Phe4151Tyr) c.12482T>A (p.Phe4161Tyr) | |
| 19 | g.38561315T>C | CA405669240 | RYR1 | c.895T>C c.877T>C c.12485T>C (p.Phe4162Ser) c.12470T>C (p.Phe4157Ser) c.12467T>C (p.Phe4156Ser) c.5854T>C c.12452T>C (p.Phe4151Ser) c.12482T>C (p.Phe4161Ser) | |
| 19 | g.38561315T>G | CA405669243 | RYR1 | c.895T>G c.877T>G c.12485T>G (p.Phe4162Cys) c.12470T>G (p.Phe4157Cys) c.12467T>G (p.Phe4156Cys) c.5854T>G c.12452T>G (p.Phe4151Cys) c.12482T>G (p.Phe4161Cys) | |
| 19 | g.38561315_38561316delinsTC | CA2335082608 | RYR1 | c.895_896delinsTC c.877_878delinsTC c.12485_12486delinsTC (p.Phe4162=) c.12470_12471delinsTC (p.Phe4157=) c.12467_12468delinsTC (p.Phe4156=) c.5854_5855delinsTC c.12452_12453delinsTC (p.Phe4151=) c.12482_12483delinsTC (p.Phe4161=) | |
| 19 | g.38561316C>A | CA405669247 | RYR1 | c.896C>A c.878C>A c.12486C>A (p.Phe4162Leu) c.12471C>A (p.Phe4157Leu) c.12468C>A (p.Phe4156Leu) c.5855C>A c.12453C>A (p.Phe4151Leu) c.12483C>A (p.Phe4161Leu) | gnomAD v4 |
| 19 | g.38561316C= | CA2335082609 | RYR1 | c.896C= c.878C= c.12486C= (p.Phe4162=) c.12471C= (p.Phe4157=) c.12468C= (p.Phe4156=) c.5855C= c.12453C= (p.Phe4151=) c.12483C= (p.Phe4161=) | |
| 19 | g.38561316C>G | CA405669250 | RYR1 | c.896C>G c.878C>G c.12486C>G (p.Phe4162Leu) c.12471C>G (p.Phe4157Leu) c.12468C>G (p.Phe4156Leu) c.5855C>G c.12453C>G (p.Phe4151Leu) c.12483C>G (p.Phe4161Leu) | |
| 19 | g.38561316C>T | CA507355301 | RYR1 | c.896C>T c.878C>T c.12486C>T (p.Phe4162=) c.12471C>T (p.Phe4157=) c.12468C>T (p.Phe4156=) c.5855C>T c.12453C>T (p.Phe4151=) c.12483C>T (p.Phe4161=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.38561317del | CA058992 | RYR1 | c.897del c.879del c.12487del (p.Leu4163TrpfsTer?) c.12472del (p.Leu4158TrpfsTer?) c.12469del (p.Leu4157TrpfsTer?) c.5856del c.12454del (p.Leu4152TrpfsTer?) c.12484del (p.Leu4162TrpfsTer?) | ClinVar dbSNP ExAC gnomAD v2 |
| 19 | g.38561317C>A | CA405669258 | RYR1 | c.897C>A c.879C>A c.12487C>A (p.Leu4163Met) c.12472C>A (p.Leu4158Met) c.12469C>A (p.Leu4157Met) c.5856C>A c.12454C>A (p.Leu4152Met) c.12484C>A (p.Leu4162Met) | |
| 19 | g.38561317C= | CA2335082610 | RYR1 | c.897C= c.879C= c.12487C= (p.Leu4163=) c.12472C= (p.Leu4158=) c.12469C= (p.Leu4157=) c.5856C= c.12454C= (p.Leu4152=) c.12484C= (p.Leu4162=) | |
| 19 | g.38561317C>G | CA405669261 | RYR1 | c.897C>G c.879C>G c.12487C>G (p.Leu4163Val) c.12472C>G (p.Leu4158Val) c.12469C>G (p.Leu4157Val) c.5856C>G c.12454C>G (p.Leu4152Val) c.12484C>G (p.Leu4162Val) | gnomAD v4 |
| 19 | g.38561317C>T | CA507355304 | RYR1 | c.897C>T c.879C>T c.12487C>T (p.Leu4163=) c.12472C>T (p.Leu4158=) c.12469C>T (p.Leu4157=) c.5856C>T c.12454C>T (p.Leu4152=) c.12484C>T (p.Leu4162=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38561318T>A | CA405669264 | RYR1 | c.898T>A c.880T>A c.12488T>A (p.Leu4163Gln) c.12473T>A (p.Leu4158Gln) c.12470T>A (p.Leu4157Gln) c.5857T>A c.12455T>A (p.Leu4152Gln) c.12485T>A (p.Leu4162Gln) | |
| 19 | g.38561318T>C | CA405669267 | RYR1 | c.898T>C c.880T>C c.12488T>C (p.Leu4163Pro) c.12473T>C (p.Leu4158Pro) c.12470T>C (p.Leu4157Pro) c.5857T>C c.12455T>C (p.Leu4152Pro) c.12485T>C (p.Leu4162Pro) | gnomAD v4 |
| 19 | g.38561318T>G | CA405669269 | RYR1 | c.898T>G c.880T>G c.12488T>G (p.Leu4163Arg) c.12473T>G (p.Leu4158Arg) c.12470T>G (p.Leu4157Arg) c.5857T>G c.12455T>G (p.Leu4152Arg) c.12485T>G (p.Leu4162Arg) | |
| 19 | g.38561318_38561325del | CA2584908836 | RYR1 | c.898_905del c.880_887del c.12488_12495del (p.Leu4163ArgfsTer6) c.12473_12480del (p.Leu4158ArgfsTer6) c.12470_12477del (p.Leu4157ArgfsTer6) c.5857_5864del c.12455_12462del (p.Leu4152ArgfsTer6) c.12485_12492del (p.Leu4162ArgfsTer6) | gnomAD v4 |
| 19 | g.38561319G>A | CA058999 | RYR1 | c.899G>A c.881G>A c.12489G>A (p.Leu4163=) c.12474G>A (p.Leu4158=) c.12471G>A (p.Leu4157=) c.5858G>A c.12456G>A (p.Leu4152=) c.12486G>A (p.Leu4162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38561319G>C | CA507355309 | RYR1 | c.899G>C c.881G>C c.12489G>C (p.Leu4163=) c.12474G>C (p.Leu4158=) c.12471G>C (p.Leu4157=) c.5858G>C c.12456G>C (p.Leu4152=) c.12486G>C (p.Leu4162=) | |
| 19 | g.38561319G= | CA2335082611 | RYR1 | c.899G= c.881G= c.12489G= (p.Leu4163=) c.12474G= (p.Leu4158=) c.12471G= (p.Leu4157=) c.5858G= c.12456G= (p.Leu4152=) c.12486G= (p.Leu4162=) | |
| 19 | g.38561319G>T | CA507355310 | RYR1 | c.899G>T c.881G>T c.12489G>T (p.Leu4163=) c.12474G>T (p.Leu4158=) c.12471G>T (p.Leu4157=) c.5858G>T c.12456G>T (p.Leu4152=) c.12486G>T (p.Leu4162=) | |
| 19 | g.38561320G>A | CA405669272 | RYR1 | c.900G>A c.882G>A c.12490G>A (p.Glu4164Lys) c.12475G>A (p.Glu4159Lys) c.12472G>A (p.Glu4158Lys) c.5859G>A c.12457G>A (p.Glu4153Lys) c.12487G>A (p.Glu4163Lys) | |
| 19 | g.38561320G>C | CA405669275 | RYR1 | c.900G>C c.882G>C c.12490G>C (p.Glu4164Gln) c.12475G>C (p.Glu4159Gln) c.12472G>C (p.Glu4158Gln) c.5859G>C c.12457G>C (p.Glu4153Gln) c.12487G>C (p.Glu4163Gln) | |
| 19 | g.38561320G>T | CA405669274 | RYR1 | c.900G>T c.882G>T c.12490G>T (p.Glu4164Ter) c.12475G>T (p.Glu4159Ter) c.12472G>T (p.Glu4158Ter) c.5859G>T c.12457G>T (p.Glu4153Ter) c.12487G>T (p.Glu4163Ter) | |
| 19 | g.38561321_38561322del | CA2584908837 | RYR1 | c.901_902del c.883_884del c.12491_12492del (p.Glu4164AlafsTer7) c.12476_12477del (p.Glu4159AlafsTer7) c.12473_12474del (p.Glu4158AlafsTer7) c.5860_5861del c.12458_12459del (p.Glu4153AlafsTer7) c.12488_12489del (p.Glu4163AlafsTer7) | gnomAD v4 |
| 19 | g.38561321A>C | CA405669278 | RYR1 | c.901A>C c.883A>C c.12491A>C (p.Glu4164Ala) c.12476A>C (p.Glu4159Ala) c.12473A>C (p.Glu4158Ala) c.5860A>C c.12458A>C (p.Glu4153Ala) c.12488A>C (p.Glu4163Ala) | |
| 19 | g.38561321A>G | CA405669279 | RYR1 | c.901A>G c.883A>G c.12491A>G (p.Glu4164Gly) c.12476A>G (p.Glu4159Gly) c.12473A>G (p.Glu4158Gly) c.5860A>G c.12458A>G (p.Glu4153Gly) c.12488A>G (p.Glu4163Gly) | |
| 19 | g.38561321A>T | CA405669281 | RYR1 | c.901A>T c.883A>T c.12491A>T (p.Glu4164Val) c.12476A>T (p.Glu4159Val) c.12473A>T (p.Glu4158Val) c.5860A>T c.12458A>T (p.Glu4153Val) c.12488A>T (p.Glu4163Val) | |
| 19 | g.38561322G>A | CA080692 | RYR1 | c.902G>A c.884G>A c.12492G>A (p.Glu4164=) c.12477G>A (p.Glu4159=) c.12474G>A (p.Glu4158=) c.5861G>A c.12459G>A (p.Glu4153=) c.12489G>A (p.Glu4163=) | |
| 19 | g.38561322G>C | CA405669283 | RYR1 | c.902G>C c.884G>C c.12492G>C (p.Glu4164Asp) c.12477G>C (p.Glu4159Asp) c.12474G>C (p.Glu4158Asp) c.5861G>C c.12459G>C (p.Glu4153Asp) c.12489G>C (p.Glu4163Asp) | |
| 19 | g.38561322G>T | CA405669285 | RYR1 | c.902G>T c.884G>T c.12492G>T (p.Glu4164Asp) c.12477G>T (p.Glu4159Asp) c.12474G>T (p.Glu4158Asp) c.5861G>T c.12459G>T (p.Glu4153Asp) c.12489G>T (p.Glu4163Asp) | |
| 19 | g.38561323C>A | CA059011 | RYR1 | c.903C>A c.885C>A c.12493C>A (p.Leu4165Met) c.12478C>A (p.Leu4160Met) c.12475C>A (p.Leu4159Met) c.5862C>A c.12460C>A (p.Leu4154Met) c.12490C>A (p.Leu4164Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38561323C= | CA2335082612 | RYR1 | c.903C= c.885C= c.12493C= (p.Leu4165=) c.12478C= (p.Leu4160=) c.12475C= (p.Leu4159=) c.5862C= c.12460C= (p.Leu4154=) c.12490C= (p.Leu4164=) | |
| 19 | g.38561323C>G | CA405669290 | RYR1 | c.903C>G c.885C>G c.12493C>G (p.Leu4165Val) c.12478C>G (p.Leu4160Val) c.12475C>G (p.Leu4159Val) c.5862C>G c.12460C>G (p.Leu4154Val) c.12490C>G (p.Leu4164Val) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38561323C>T | CA507355313 | RYR1 | c.903C>T c.885C>T c.12493C>T (p.Leu4165=) c.12478C>T (p.Leu4160=) c.12475C>T (p.Leu4159=) c.5862C>T c.12460C>T (p.Leu4154=) c.12490C>T (p.Leu4164=) | |
| 19 | g.38561324T>A | CA405669295 | RYR1 | c.904T>A c.886T>A c.12494T>A (p.Leu4165Gln) c.12479T>A (p.Leu4160Gln) c.12476T>A (p.Leu4159Gln) c.5863T>A c.12461T>A (p.Leu4154Gln) c.12491T>A (p.Leu4164Gln) | dbSNP |
| 19 | g.38561324T>C | CA405669298 | RYR1 | c.904T>C c.886T>C c.12494T>C (p.Leu4165Pro) c.12479T>C (p.Leu4160Pro) c.12476T>C (p.Leu4159Pro) c.5863T>C c.12461T>C (p.Leu4154Pro) c.12491T>C (p.Leu4164Pro) | |
| 19 | g.38561324T>G | CA405669300 | RYR1 | c.904T>G c.886T>G c.12494T>G (p.Leu4165Arg) c.12479T>G (p.Leu4160Arg) c.12476T>G (p.Leu4159Arg) c.5863T>G c.12461T>G (p.Leu4154Arg) c.12491T>G (p.Leu4164Arg) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38561324T= | CA2335082613 | RYR1 | c.904T= c.886T= c.12494T= (p.Leu4165=) c.12479T= (p.Leu4160=) c.12476T= (p.Leu4159=) c.5863T= c.12461T= (p.Leu4154=) c.12491T= (p.Leu4164=) | |
| 19 | g.38561325G>A | CA507355319 | RYR1 | c.905G>A c.887G>A c.12495G>A (p.Leu4165=) c.12480G>A (p.Leu4160=) c.12477G>A (p.Leu4159=) c.5864G>A c.12462G>A (p.Leu4154=) c.12492G>A (p.Leu4164=) | |
| 19 | g.38561325G>C | CA507355318 | RYR1 | c.905G>C c.887G>C c.12495G>C (p.Leu4165=) c.12480G>C (p.Leu4160=) c.12477G>C (p.Leu4159=) c.5864G>C c.12462G>C (p.Leu4154=) c.12492G>C (p.Leu4164=) | |
| 19 | g.38561325G= | CA2335082614 | RYR1 | c.905G= c.887G= c.12495G= (p.Leu4165=) c.12480G= (p.Leu4160=) c.12477G= (p.Leu4159=) c.5864G= c.12462G= (p.Leu4154=) c.12492G= (p.Leu4164=) | |
| 19 | g.38561325G>T | CA507355316 | RYR1 | c.905G>T c.887G>T c.12495G>T (p.Leu4165=) c.12480G>T (p.Leu4160=) c.12477G>T (p.Leu4159=) c.5864G>T c.12462G>T (p.Leu4154=) c.12492G>T (p.Leu4164=) | |
| 19 | g.38561325_38561326insT | CA915953151 | RYR1 | c.905_906insT c.887_888insT c.12495_12496insT (p.Ala4166CysfsTer6) c.12480_12481insT (p.Ala4161CysfsTer6) c.12477_12478insT (p.Ala4160CysfsTer6) c.5864_5865insT c.12462_12463insT (p.Ala4155CysfsTer6) c.12492_12493insT (p.Ala4165CysfsTer6) | ClinVar dbSNP |
| 19 | g.38561326G>A | CA080693 | RYR1 | c.906G>A c.888G>A c.12496G>A (p.Ala4166Thr) c.12481G>A (p.Ala4161Thr) c.12478G>A (p.Ala4160Thr) c.5865G>A c.12463G>A (p.Ala4155Thr) c.12493G>A (p.Ala4165Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38561326G>C | CA405669309 | RYR1 | c.906G>C c.888G>C c.12496G>C (p.Ala4166Pro) c.12481G>C (p.Ala4161Pro) c.12478G>C (p.Ala4160Pro) c.5865G>C c.12463G>C (p.Ala4155Pro) c.12493G>C (p.Ala4165Pro) | |
| 19 | g.38561326G= | CA2335082615 | RYR1 | c.906G= c.888G= c.12496G= (p.Ala4166=) c.12481G= (p.Ala4161=) c.12478G= (p.Ala4160=) c.5865G= c.12463G= (p.Ala4155=) c.12493G= (p.Ala4165=) | |
| 19 | g.38561326G>T | CA405669304 | RYR1 | c.906G>T c.888G>T c.12496G>T (p.Ala4166Ser) c.12481G>T (p.Ala4161Ser) c.12478G>T (p.Ala4160Ser) c.5865G>T c.12463G>T (p.Ala4155Ser) c.12493G>T (p.Ala4165Ser) | |
| 19 | g.38561327C>A | CA405669315 | RYR1 | c.907C>A c.889C>A c.12497C>A (p.Ala4166Asp) c.12482C>A (p.Ala4161Asp) c.12479C>A (p.Ala4160Asp) c.5866C>A c.12464C>A (p.Ala4155Asp) c.12494C>A (p.Ala4165Asp) | gnomAD v4 |
| 19 | g.38561327C>G | CA405669312 | RYR1 | c.907C>G c.889C>G c.12497C>G (p.Ala4166Gly) c.12482C>G (p.Ala4161Gly) c.12479C>G (p.Ala4160Gly) c.5866C>G c.12464C>G (p.Ala4155Gly) c.12494C>G (p.Ala4165Gly) | gnomAD v4 |
| 19 | g.38561327C>T | CA405669316 | RYR1 | c.907C>T c.889C>T c.12497C>T (p.Ala4166Val) c.12482C>T (p.Ala4161Val) c.12479C>T (p.Ala4160Val) c.5866C>T c.12464C>T (p.Ala4155Val) c.12494C>T (p.Ala4165Val) | gnomAD v4 |
| 19 | g.38561328C>A | CA507355321 | RYR1 | c.908C>A c.890C>A c.12498C>A (p.Ala4166=) c.12483C>A (p.Ala4161=) c.12480C>A (p.Ala4160=) c.5867C>A c.12465C>A (p.Ala4155=) c.12495C>A (p.Ala4165=) | |
| 19 | g.38561328C= | CA2335082616 | RYR1 | c.908C= c.890C= c.12498C= (p.Ala4166=) c.12483C= (p.Ala4161=) c.12480C= (p.Ala4160=) c.5867C= c.12465C= (p.Ala4155=) c.12495C= (p.Ala4165=) | |
| 19 | g.38561328C>G | CA507355322 | RYR1 | c.908C>G c.890C>G c.12498C>G (p.Ala4166=) c.12483C>G (p.Ala4161=) c.12480C>G (p.Ala4160=) c.5867C>G c.12465C>G (p.Ala4155=) c.12495C>G (p.Ala4165=) | |
| 19 | g.38561328C>T | CA059019 | RYR1 | c.908C>T c.890C>T c.12498C>T (p.Ala4166=) c.12483C>T (p.Ala4161=) c.12480C>T (p.Ala4160=) c.5867C>T c.12465C>T (p.Ala4155=) c.12495C>T (p.Ala4165=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38561329G>A | CA080694 | RYR1 | c.909G>A c.891G>A c.12499G>A (p.Glu4167Lys) c.12484G>A (p.Glu4162Lys) c.12481G>A (p.Glu4161Lys) c.5868G>A c.12466G>A (p.Glu4156Lys) c.12496G>A (p.Glu4166Lys) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38561329G>C | CA405669323 | RYR1 | c.909G>C c.891G>C c.12499G>C (p.Glu4167Gln) c.12484G>C (p.Glu4162Gln) c.12481G>C (p.Glu4161Gln) c.5868G>C c.12466G>C (p.Glu4156Gln) c.12496G>C (p.Glu4166Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38561329G= | CA2335082617 | RYR1 | c.909G= c.891G= c.12499G= (p.Glu4167=) c.12484G= (p.Glu4162=) c.12481G= (p.Glu4161=) c.5868G= c.12466G= (p.Glu4156=) c.12496G= (p.Glu4166=) | |
| 19 | g.38561329G>T | CA023986 | RYR1 | c.909G>T c.891G>T c.12499G>T (p.Glu4167Ter) c.12484G>T (p.Glu4162Ter) c.12481G>T (p.Glu4161Ter) c.5868G>T c.12466G>T (p.Glu4156Ter) c.12496G>T (p.Glu4166Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38561330A= | CA2335082618 | RYR1 | c.910A= c.892A= c.12500A= (p.Glu4167=) c.12485A= (p.Glu4162=) c.12482A= (p.Glu4161=) c.5869A= c.12467A= (p.Glu4156=) c.12497A= (p.Glu4166=) | |
| 19 | g.38561330A>C | CA059027 | RYR1 | c.910A>C c.892A>C c.12500A>C (p.Glu4167Ala) c.12485A>C (p.Glu4162Ala) c.12482A>C (p.Glu4161Ala) c.5869A>C c.12467A>C (p.Glu4156Ala) c.12497A>C (p.Glu4166Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38561330A>G | CA405669332 | RYR1 | c.910A>G c.892A>G c.12500A>G (p.Glu4167Gly) c.12485A>G (p.Glu4162Gly) c.12482A>G (p.Glu4161Gly) c.5869A>G c.12467A>G (p.Glu4156Gly) c.12497A>G (p.Glu4166Gly) | dbSNP |
| 19 | g.38561330A>T | CA405669335 | RYR1 | c.910A>T c.892A>T c.12500A>T (p.Glu4167Val) c.12485A>T (p.Glu4162Val) c.12482A>T (p.Glu4161Val) c.5869A>T c.12467A>T (p.Glu4156Val) c.12497A>T (p.Glu4166Val) | gnomAD v4 |
| 19 | g.38561331G>A | CA507355328 | RYR1 | c.911G>A c.893G>A c.12501G>A (p.Glu4167=) c.12486G>A (p.Glu4162=) c.12483G>A (p.Glu4161=) c.5870G>A c.12468G>A (p.Glu4156=) c.12498G>A (p.Glu4166=) | ClinVar dbSNP |
| 19 | g.38561331G>C | CA405669339 | RYR1 | c.911G>C c.893G>C c.12501G>C (p.Glu4167Asp) c.12486G>C (p.Glu4162Asp) c.12483G>C (p.Glu4161Asp) c.5870G>C c.12468G>C (p.Glu4156Asp) c.12498G>C (p.Glu4166Asp) | dbSNP gnomAD v4 |
| 19 | g.38561331G= | CA2335082619 | RYR1 | c.911G= c.893G= c.12501G= (p.Glu4167=) c.12486G= (p.Glu4162=) c.12483G= (p.Glu4161=) c.5870G= c.12468G= (p.Glu4156=) c.12498G= (p.Glu4166=) | |
| 19 | g.38561331G>T | CA405669348 | RYR1 | c.911G>T c.893G>T c.12501G>T (p.Glu4167Asp) c.12486G>T (p.Glu4162Asp) c.12483G>T (p.Glu4161Asp) c.5870G>T c.12468G>T (p.Glu4156Asp) c.12498G>T (p.Glu4166Asp) | gnomAD v4 |
| 19 | g.38561332A>C | CA405669351 | RYR1 | c.912A>C c.894A>C c.12502A>C (p.Ser4168Arg) c.12487A>C (p.Ser4163Arg) c.12484A>C (p.Ser4162Arg) c.5871A>C c.12469A>C (p.Ser4157Arg) c.12499A>C (p.Ser4167Arg) | |
| 19 | g.38561332A>G | CA405669354 | RYR1 | c.912A>G c.894A>G c.12502A>G (p.Ser4168Gly) c.12487A>G (p.Ser4163Gly) c.12484A>G (p.Ser4162Gly) c.5871A>G c.12469A>G (p.Ser4157Gly) c.12499A>G (p.Ser4167Gly) | |
| 19 | g.38561332A>T | CA405669355 | RYR1 | c.912A>T c.894A>T c.12502A>T (p.Ser4168Cys) c.12487A>T (p.Ser4163Cys) c.12484A>T (p.Ser4162Cys) c.5871A>T c.12469A>T (p.Ser4157Cys) c.12499A>T (p.Ser4167Cys) | |
| 19 | g.38561333G>A | CA405669362 | RYR1 | c.913G>A c.895G>A c.12503G>A (p.Ser4168Asn) c.12488G>A (p.Ser4163Asn) c.12485G>A (p.Ser4162Asn) c.5872G>A c.12470G>A (p.Ser4157Asn) c.12500G>A (p.Ser4167Asn) | gnomAD v4 |
| 19 | g.38561333G>C | CA405669359 | RYR1 | c.913G>C c.895G>C c.12503G>C (p.Ser4168Thr) c.12488G>C (p.Ser4163Thr) c.12485G>C (p.Ser4162Thr) c.5872G>C c.12470G>C (p.Ser4157Thr) c.12500G>C (p.Ser4167Thr) | |
| 19 | g.38561333G= | CA2335082620 | RYR1 | c.913G= c.895G= c.12503G= (p.Ser4168=) c.12488G= (p.Ser4163=) c.12485G= (p.Ser4162=) c.5872G= c.12470G= (p.Ser4157=) c.12500G= (p.Ser4167=) | |
| 19 | g.38561333G>T | CA308105886 | RYR1 | c.913G>T c.895G>T c.12503G>T (p.Ser4168Ile) c.12488G>T (p.Ser4163Ile) c.12485G>T (p.Ser4162Ile) c.5872G>T c.12470G>T (p.Ser4157Ile) c.12500G>T (p.Ser4167Ile) | dbSNP gnomAD v4 |
| 19 | g.38561333_38561334delinsGC | CA2335082621 | RYR1 | c.913_914delinsGC c.895_896delinsGC c.12503_12504delinsGC (p.Ser4168=) c.12488_12489delinsGC (p.Ser4163=) c.12485_12486delinsGC (p.Ser4162=) c.5872_5873delinsGC c.12470_12471delinsGC (p.Ser4157=) c.12500_12501delinsGC (p.Ser4167=) | |
| 19 | g.38561333_38561334delinsTT | CA1139666436 | RYR1 | c.913_914delinsTT c.895_896delinsTT c.12503_12504delinsTT (p.Ser4168Ile) c.12488_12489delinsTT (p.Ser4163Ile) c.12485_12486delinsTT (p.Ser4162Ile) c.5872_5873delinsTT c.12470_12471delinsTT (p.Ser4157Ile) c.12500_12501delinsTT (p.Ser4167Ile) | ClinVar dbSNP |
| 19 | g.38561334C>A | CA405669365 | RYR1 | c.914C>A c.896C>A c.12504C>A (p.Ser4168Arg) c.12489C>A (p.Ser4163Arg) c.12486C>A (p.Ser4162Arg) c.5873C>A c.12471C>A (p.Ser4157Arg) c.12501C>A (p.Ser4167Arg) | |
| 19 | g.38561334C= | CA2335082622 | RYR1 | c.914C= c.896C= c.12504C= (p.Ser4168=) c.12489C= (p.Ser4163=) c.12486C= (p.Ser4162=) c.5873C= c.12471C= (p.Ser4157=) c.12501C= (p.Ser4167=) | |
| 19 | g.38561334C>G | CA405669368 | RYR1 | c.914C>G c.896C>G c.12504C>G (p.Ser4168Arg) c.12489C>G (p.Ser4163Arg) c.12486C>G (p.Ser4162Arg) c.5873C>G c.12471C>G (p.Ser4157Arg) c.12501C>G (p.Ser4167Arg) | |
| 19 | g.38561334C>T | CA308105888 | RYR1 | c.914C>T c.896C>T c.12504C>T (p.Ser4168=) c.12489C>T (p.Ser4163=) c.12486C>T (p.Ser4162=) c.5873C>T c.12471C>T (p.Ser4157=) c.12501C>T (p.Ser4167=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38561335A>C | CA405669370 | RYR1 | c.915A>C c.897A>C c.12505A>C (p.Ile4169Leu) c.12490A>C (p.Ile4164Leu) c.12487A>C (p.Ile4163Leu) c.5874A>C c.12472A>C (p.Ile4158Leu) c.12502A>C (p.Ile4168Leu) | |
| 19 | g.38561335A>G | CA405669372 | RYR1 | c.915A>G c.897A>G c.12505A>G (p.Ile4169Val) c.12490A>G (p.Ile4164Val) c.12487A>G (p.Ile4163Val) c.5874A>G c.12472A>G (p.Ile4158Val) c.12502A>G (p.Ile4168Val) | |
| 19 | g.38561335A>T | CA405669378 | RYR1 | c.915A>T c.897A>T c.12505A>T (p.Ile4169Phe) c.12490A>T (p.Ile4164Phe) c.12487A>T (p.Ile4163Phe) c.5874A>T c.12472A>T (p.Ile4158Phe) c.12502A>T (p.Ile4168Phe) | |
| 19 | g.38561336T>A | CA405669380 | RYR1 | c.916T>A c.898T>A c.12506T>A (p.Ile4169Asn) c.12491T>A (p.Ile4164Asn) c.12488T>A (p.Ile4163Asn) c.5875T>A c.12473T>A (p.Ile4158Asn) c.12503T>A (p.Ile4168Asn) | gnomAD v4 |
| 19 | g.38561336T>C | CA405669383 | RYR1 | c.916T>C c.898T>C c.12506T>C (p.Ile4169Thr) c.12491T>C (p.Ile4164Thr) c.12488T>C (p.Ile4163Thr) c.5875T>C c.12473T>C (p.Ile4158Thr) c.12503T>C (p.Ile4168Thr) | |
| 19 | g.38561336T>G | CA405669387 | RYR1 | c.916T>G c.898T>G c.12506T>G (p.Ile4169Ser) c.12491T>G (p.Ile4164Ser) c.12488T>G (p.Ile4163Ser) c.5875T>G c.12473T>G (p.Ile4158Ser) c.12503T>G (p.Ile4168Ser) | |
| 19 | g.38561337C>A | CA507355329 | RYR1 | c.917C>A c.899C>A c.12507C>A (p.Ile4169=) c.12492C>A (p.Ile4164=) c.12489C>A (p.Ile4163=) c.5876C>A c.12474C>A (p.Ile4158=) c.12504C>A (p.Ile4168=) | |
| 19 | g.38561337C= | CA2335082623 | RYR1 | c.917C= c.899C= c.12507C= (p.Ile4169=) c.12492C= (p.Ile4164=) c.12489C= (p.Ile4163=) c.5876C= c.12474C= (p.Ile4158=) c.12504C= (p.Ile4168=) | |
| 19 | g.38561337C>G | CA405669391 | RYR1 | c.917C>G c.899C>G c.12507C>G (p.Ile4169Met) c.12492C>G (p.Ile4164Met) c.12489C>G (p.Ile4163Met) c.5876C>G c.12474C>G (p.Ile4158Met) c.12504C>G (p.Ile4168Met) | |
| 19 | g.38561337C>T | CA059034 | RYR1 | c.917C>T c.899C>T c.12507C>T (p.Ile4169=) c.12492C>T (p.Ile4164=) c.12489C>T (p.Ile4163=) c.5876C>T c.12474C>T (p.Ile4158=) c.12504C>T (p.Ile4168=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38561338C>A | CA405669409 | RYR1 | c.918C>A c.900C>A c.12508C>A (p.Leu4170Ile) c.12493C>A (p.Leu4165Ile) c.12490C>A (p.Leu4164Ile) c.5877C>A c.12475C>A (p.Leu4159Ile) c.12505C>A (p.Leu4169Ile) | |
| 19 | g.38561338C>G | CA405669406 | RYR1 | c.918C>G c.900C>G c.12508C>G (p.Leu4170Val) c.12493C>G (p.Leu4165Val) c.12490C>G (p.Leu4164Val) c.5877C>G c.12475C>G (p.Leu4159Val) c.12505C>G (p.Leu4169Val) | |
| 19 | g.38561338C>T | CA405669402 | RYR1 | c.918C>T c.900C>T c.12508C>T (p.Leu4170Phe) c.12493C>T (p.Leu4165Phe) c.12490C>T (p.Leu4164Phe) c.5877C>T c.12475C>T (p.Leu4159Phe) c.12505C>T (p.Leu4169Phe) | |
| 19 | g.38561339T>A | CA405669414 | RYR1 | c.919T>A c.901T>A c.12509T>A (p.Leu4170His) c.12494T>A (p.Leu4165His) c.12491T>A (p.Leu4164His) c.5878T>A c.12476T>A (p.Leu4159His) c.12506T>A (p.Leu4169His) | |
| 19 | g.38561339T>C | CA405669416 | RYR1 | c.919T>C c.901T>C c.12509T>C (p.Leu4170Pro) c.12494T>C (p.Leu4165Pro) c.12491T>C (p.Leu4164Pro) c.5878T>C c.12476T>C (p.Leu4159Pro) c.12506T>C (p.Leu4169Pro) | dbSNP gnomAD v4 |
| 19 | g.38561339T>G | CA405669420 | RYR1 | c.919T>G c.901T>G c.12509T>G (p.Leu4170Arg) c.12494T>G (p.Leu4165Arg) c.12491T>G (p.Leu4164Arg) c.5878T>G c.12476T>G (p.Leu4159Arg) c.12506T>G (p.Leu4169Arg) | |
| 19 | g.38561339T= | CA2335082624 | RYR1 | c.919T= c.901T= c.12509T= (p.Leu4170=) c.12494T= (p.Leu4165=) c.12491T= (p.Leu4164=) c.5878T= c.12476T= (p.Leu4159=) c.12506T= (p.Leu4169=) | |
| 19 | g.38561340T>A | CA507355330 | RYR1 | c.920T>A c.902T>A c.12510T>A (p.Leu4170=) c.12495T>A (p.Leu4165=) c.12492T>A (p.Leu4164=) c.5879T>A c.12477T>A (p.Leu4159=) c.12507T>A (p.Leu4169=) | |
| 19 | g.38561340T>C | CA507355331 | RYR1 | c.920T>C c.902T>C c.12510T>C (p.Leu4170=) c.12495T>C (p.Leu4165=) c.12492T>C (p.Leu4164=) c.5879T>C c.12477T>C (p.Leu4159=) c.12507T>C (p.Leu4169=) | dbSNP |
| 19 | g.38561340T>G | CA507355332 | RYR1 | c.920T>G c.902T>G c.12510T>G (p.Leu4170=) c.12495T>G (p.Leu4165=) c.12492T>G (p.Leu4164=) c.5879T>G c.12477T>G (p.Leu4159=) c.12507T>G (p.Leu4169=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38561340T= | CA2335082625 | RYR1 | c.920T= c.902T= c.12510T= (p.Leu4170=) c.12495T= (p.Leu4165=) c.12492T= (p.Leu4164=) c.5879T= c.12477T= (p.Leu4159=) c.12507T= (p.Leu4169=) | |
| 19 | g.38561341G>A | CA405669423 | RYR1 | c.921G>A c.903G>A c.12511G>A (p.Glu4171Lys) c.12496G>A (p.Glu4166Lys) c.12493G>A (p.Glu4165Lys) c.5880G>A c.12478G>A (p.Glu4160Lys) c.12508G>A (p.Glu4170Lys) | |
| 19 | g.38561341G>C | CA405669426 | RYR1 | c.921G>C c.903G>C c.12511G>C (p.Glu4171Gln) c.12496G>C (p.Glu4166Gln) c.12493G>C (p.Glu4165Gln) c.5880G>C c.12478G>C (p.Glu4160Gln) c.12508G>C (p.Glu4170Gln) | |
| 19 | g.38561341G>T | CA405669429 | RYR1 | c.921G>T c.903G>T c.12511G>T (p.Glu4171Ter) c.12496G>T (p.Glu4166Ter) c.12493G>T (p.Glu4165Ter) c.5880G>T c.12478G>T (p.Glu4160Ter) c.12508G>T (p.Glu4170Ter) | gnomAD v4 |
| 19 | g.38561342A>C | CA405669440 | RYR1 | c.922A>C c.904A>C c.12512A>C (p.Glu4171Ala) c.12497A>C (p.Glu4166Ala) c.12494A>C (p.Glu4165Ala) c.5881A>C c.12479A>C (p.Glu4160Ala) c.12509A>C (p.Glu4170Ala) | |
| 19 | g.38561342A>G | CA405669433 | RYR1 | c.922A>G c.904A>G c.12512A>G (p.Glu4171Gly) c.12497A>G (p.Glu4166Gly) c.12494A>G (p.Glu4165Gly) c.5881A>G c.12479A>G (p.Glu4160Gly) c.12509A>G (p.Glu4170Gly) | gnomAD v4 |
| 19 | g.38561342A>T | CA405669436 | RYR1 | c.922A>T c.904A>T c.12512A>T (p.Glu4171Val) c.12497A>T (p.Glu4166Val) c.12494A>T (p.Glu4165Val) c.5881A>T c.12479A>T (p.Glu4160Val) c.12509A>T (p.Glu4170Val) | |
| 19 | g.38561343G>A | CA507355333 | RYR1 | c.923G>A c.905G>A c.12513G>A (p.Glu4171=) c.12498G>A (p.Glu4166=) c.12495G>A (p.Glu4165=) c.5882G>A c.12480G>A (p.Glu4160=) c.12510G>A (p.Glu4170=) | |
| 19 | g.38561343G>C | CA405669444 | RYR1 | c.923G>C c.905G>C c.12513G>C (p.Glu4171Asp) c.12498G>C (p.Glu4166Asp) c.12495G>C (p.Glu4165Asp) c.5882G>C c.12480G>C (p.Glu4160Asp) c.12510G>C (p.Glu4170Asp) | |
| 19 | g.38561343G>T | CA405669445 | RYR1 | c.923G>T c.905G>T c.12513G>T (p.Glu4171Asp) c.12498G>T (p.Glu4166Asp) c.12495G>T (p.Glu4165Asp) c.5882G>T c.12480G>T (p.Glu4160Asp) c.12510G>T (p.Glu4170Asp) | dbSNP gnomAD v4 |
| 19 | g.38561344T>A | CA405669446 | RYR1 | c.924T>A c.906T>A c.12514T>A (p.Tyr4172Asn) c.12499T>A (p.Tyr4167Asn) c.12496T>A (p.Tyr4166Asn) c.5883T>A c.12481T>A (p.Tyr4161Asn) c.12511T>A (p.Tyr4171Asn) | |
| 19 | g.38561344T>C | CA405669447 | RYR1 | c.924T>C c.906T>C c.12514T>C (p.Tyr4172His) c.12499T>C (p.Tyr4167His) c.12496T>C (p.Tyr4166His) c.5883T>C c.12481T>C (p.Tyr4161His) c.12511T>C (p.Tyr4171His) | |
| 19 | g.38561344T>G | CA405669448 | RYR1 | c.924T>G c.906T>G c.12514T>G (p.Tyr4172Asp) c.12499T>G (p.Tyr4167Asp) c.12496T>G (p.Tyr4166Asp) c.5883T>G c.12481T>G (p.Tyr4161Asp) c.12511T>G (p.Tyr4171Asp) | |
| 19 | g.38561345A>C | CA405669449 | RYR1 | c.925A>C c.907A>C c.12515A>C (p.Tyr4172Ser) c.12500A>C (p.Tyr4167Ser) c.12497A>C (p.Tyr4166Ser) c.5884A>C c.12482A>C (p.Tyr4161Ser) c.12512A>C (p.Tyr4171Ser) | |
| 19 | g.38561345A>G | CA405669451 | RYR1 | c.925A>G c.907A>G c.12515A>G (p.Tyr4172Cys) c.12500A>G (p.Tyr4167Cys) c.12497A>G (p.Tyr4166Cys) c.5884A>G c.12482A>G (p.Tyr4161Cys) c.12512A>G (p.Tyr4171Cys) | |
| 19 | g.38561345A>T | CA405669450 | RYR1 | c.925A>T c.907A>T c.12515A>T (p.Tyr4172Phe) c.12500A>T (p.Tyr4167Phe) c.12497A>T (p.Tyr4166Phe) c.5884A>T c.12482A>T (p.Tyr4161Phe) c.12512A>T (p.Tyr4171Phe) | |
| 19 | g.38561346C>A | CA405669453 | RYR1 | c.926C>A c.908C>A c.12516C>A (p.Tyr4172Ter) c.12501C>A (p.Tyr4167Ter) c.12498C>A (p.Tyr4166Ter) c.5885C>A c.12483C>A (p.Tyr4161Ter) c.12513C>A (p.Tyr4171Ter) | |
| 19 | g.38561346C>G | CA405669454 | RYR1 | c.926C>G c.908C>G c.12516C>G (p.Tyr4172Ter) c.12501C>G (p.Tyr4167Ter) c.12498C>G (p.Tyr4166Ter) c.5885C>G c.12483C>G (p.Tyr4161Ter) c.12513C>G (p.Tyr4171Ter) | |
| 19 | g.38561346C>T | CA507355334 | RYR1 | c.926C>T c.908C>T c.12516C>T (p.Tyr4172=) c.12501C>T (p.Tyr4167=) c.12498C>T (p.Tyr4166=) c.5885C>T c.12483C>T (p.Tyr4161=) c.12513C>T (p.Tyr4171=) | |
| 19 | g.38561347T>A | CA405669455 | RYR1 | c.927T>A c.909T>A c.12517T>A (p.Phe4173Ile) c.12502T>A (p.Phe4168Ile) c.12499T>A (p.Phe4167Ile) c.5886T>A c.12484T>A (p.Phe4162Ile) c.12514T>A (p.Phe4172Ile) | |
| 19 | g.38561347T>C | CA405669456 | RYR1 | c.927T>C c.909T>C c.12517T>C (p.Phe4173Leu) c.12502T>C (p.Phe4168Leu) c.12499T>C (p.Phe4167Leu) c.5886T>C c.12484T>C (p.Phe4162Leu) c.12514T>C (p.Phe4172Leu) | |
| 19 | g.38561347T>G | CA405669457 | RYR1 | c.927T>G c.909T>G c.12517T>G (p.Phe4173Val) c.12502T>G (p.Phe4168Val) c.12499T>G (p.Phe4167Val) c.5886T>G c.12484T>G (p.Phe4162Val) c.12514T>G (p.Phe4172Val) | |
| 19 | g.38561348T>A | CA405669459 | RYR1 | c.928T>A c.910T>A c.12518T>A (p.Phe4173Tyr) c.12503T>A (p.Phe4168Tyr) c.12500T>A (p.Phe4167Tyr) c.5887T>A c.12485T>A (p.Phe4162Tyr) c.12515T>A (p.Phe4172Tyr) | |
| 19 | g.38561348T>C | CA405669461 | RYR1 | c.928T>C c.910T>C c.12518T>C (p.Phe4173Ser) c.12503T>C (p.Phe4168Ser) c.12500T>C (p.Phe4167Ser) c.5887T>C c.12485T>C (p.Phe4162Ser) c.12515T>C (p.Phe4172Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38561348T>G | CA405669462 | RYR1 | c.928T>G c.910T>G c.12518T>G (p.Phe4173Cys) c.12503T>G (p.Phe4168Cys) c.12500T>G (p.Phe4167Cys) c.5887T>G c.12485T>G (p.Phe4162Cys) c.12515T>G (p.Phe4172Cys) | |
| 19 | g.38561348T= | CA2335082626 | RYR1 | c.928T= c.910T= c.12518T= (p.Phe4173=) c.12503T= (p.Phe4168=) c.12500T= (p.Phe4167=) c.5887T= c.12485T= (p.Phe4162=) c.12515T= (p.Phe4172=) | |
| 19 | g.38561349C>A | CA405669463 | RYR1 | c.929C>A c.911C>A c.12519C>A (p.Phe4173Leu) c.12504C>A (p.Phe4168Leu) c.12501C>A (p.Phe4167Leu) c.5888C>A c.12486C>A (p.Phe4162Leu) c.12516C>A (p.Phe4172Leu) | |
| 19 | g.38561349C= | CA2335082627 | RYR1 | c.929C= c.911C= c.12519C= (p.Phe4173=) c.12504C= (p.Phe4168=) c.12501C= (p.Phe4167=) c.5888C= c.12486C= (p.Phe4162=) c.12516C= (p.Phe4172=) | |
| 19 | g.38561349C>G | CA405669466 | RYR1 | c.929C>G c.911C>G c.12519C>G (p.Phe4173Leu) c.12504C>G (p.Phe4168Leu) c.12501C>G (p.Phe4167Leu) c.5888C>G c.12486C>G (p.Phe4162Leu) c.12516C>G (p.Phe4172Leu) | |
| 19 | g.38561349C>T | CA308105895 | RYR1 | c.929C>T c.911C>T c.12519C>T (p.Phe4173=) c.12504C>T (p.Phe4168=) c.12501C>T (p.Phe4167=) c.5888C>T c.12486C>T (p.Phe4162=) c.12516C>T (p.Phe4172=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38561350dup | CA2576772060 | RYR1 | c.930dup c.912dup c.12520dup (p.Arg4174ProfsTer?) c.12505dup (p.Arg4169ProfsTer?) c.12502dup (p.Arg4168ProfsTer?) c.5889dup c.12487dup (p.Arg4163ProfsTer?) c.12517dup (p.Arg4173ProfsTer?) | |
| 19 | g.38561350C>A | CA405669474 | RYR1 | c.930C>A c.912C>A c.12520C>A (p.Arg4174Ser) c.12505C>A (p.Arg4169Ser) c.12502C>A (p.Arg4168Ser) c.5889C>A c.12487C>A (p.Arg4163Ser) c.12517C>A (p.Arg4173Ser) | dbSNP |
| 19 | g.38561350C= | CA2335082628 | RYR1 | c.930C= c.912C= c.12520C= (p.Arg4174=) c.12505C= (p.Arg4169=) c.12502C= (p.Arg4168=) c.5889C= c.12487C= (p.Arg4163=) c.12517C= (p.Arg4173=) | |
| 19 | g.38561350C>G | CA405669475 | RYR1 | c.930C>G c.912C>G c.12520C>G (p.Arg4174Gly) c.12505C>G (p.Arg4169Gly) c.12502C>G (p.Arg4168Gly) c.5889C>G c.12487C>G (p.Arg4163Gly) c.12517C>G (p.Arg4173Gly) | |
| 19 | g.38561350C>T | CA405669473 | RYR1 | c.930C>T c.912C>T c.12520C>T (p.Arg4174Cys) c.12505C>T (p.Arg4169Cys) c.12502C>T (p.Arg4168Cys) c.5889C>T c.12487C>T (p.Arg4163Cys) c.12517C>T (p.Arg4173Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38561351G>A | CA405669476 | RYR1 | c.931G>A c.913G>A c.12521G>A (p.Arg4174His) c.12506G>A (p.Arg4169His) c.12503G>A (p.Arg4168His) c.5890G>A c.12488G>A (p.Arg4163His) c.12518G>A (p.Arg4173His) | COSMIC |
| 19 | g.38561351G>C | CA405669480 | RYR1 | c.931G>C c.913G>C c.12521G>C (p.Arg4174Pro) c.12506G>C (p.Arg4169Pro) c.12503G>C (p.Arg4168Pro) c.5890G>C c.12488G>C (p.Arg4163Pro) c.12518G>C (p.Arg4173Pro) | ClinVar dbSNP |
| 19 | g.38561351G= | CA2335082629 | RYR1 | c.931G= c.913G= c.12521G= (p.Arg4174=) c.12506G= (p.Arg4169=) c.12503G= (p.Arg4168=) c.5890G= c.12488G= (p.Arg4163=) c.12518G= (p.Arg4173=) | |
| 19 | g.38561351G>T | CA405669478 | RYR1 | c.931G>T c.913G>T c.12521G>T (p.Arg4174Leu) c.12506G>T (p.Arg4169Leu) c.12503G>T (p.Arg4168Leu) c.5890G>T c.12488G>T (p.Arg4163Leu) c.12518G>T (p.Arg4173Leu) | |
| 19 | g.38561352C>A | CA507355335 | RYR1 | c.932C>A c.914C>A c.12522C>A (p.Arg4174=) c.12507C>A (p.Arg4169=) c.12504C>A (p.Arg4168=) c.5891C>A c.12489C>A (p.Arg4163=) c.12519C>A (p.Arg4173=) | gnomAD v4 |
| 19 | g.38561352C= | CA2335082630 | RYR1 | c.932C= c.914C= c.12522C= (p.Arg4174=) c.12507C= (p.Arg4169=) c.12504C= (p.Arg4168=) c.5891C= c.12489C= (p.Arg4163=) c.12519C= (p.Arg4173=) | |
| 19 | g.38561352C>G | CA507355336 | RYR1 | c.932C>G c.914C>G c.12522C>G (p.Arg4174=) c.12507C>G (p.Arg4169=) c.12504C>G (p.Arg4168=) c.5891C>G c.12489C>G (p.Arg4163=) c.12519C>G (p.Arg4173=) | |
| 19 | g.38561352C>T | CA059042 | RYR1 | c.932C>T c.914C>T c.12522C>T (p.Arg4174=) c.12507C>T (p.Arg4169=) c.12504C>T (p.Arg4168=) c.5891C>T c.12489C>T (p.Arg4163=) c.12519C>T (p.Arg4173=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38561353C>A | CA405669486 | RYR1 | c.933C>A c.915C>A c.12523C>A (p.Pro4175Thr) c.12508C>A (p.Pro4170Thr) c.12505C>A (p.Pro4169Thr) c.5892C>A c.12490C>A (p.Pro4164Thr) c.12520C>A (p.Pro4174Thr) | |
| 19 | g.38561353C= | CA2335082631 | RYR1 | c.933C= c.915C= c.12523C= (p.Pro4175=) c.12508C= (p.Pro4170=) c.12505C= (p.Pro4169=) c.5892C= c.12490C= (p.Pro4164=) c.12520C= (p.Pro4174=) | |
| 19 | g.38561353C>G | CA059048 | RYR1 | c.933C>G c.915C>G c.12523C>G (p.Pro4175Ala) c.12508C>G (p.Pro4170Ala) c.12505C>G (p.Pro4169Ala) c.5892C>G c.12490C>G (p.Pro4164Ala) c.12520C>G (p.Pro4174Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38561353C>T | CA405669490 | RYR1 | c.933C>T c.915C>T c.12523C>T (p.Pro4175Ser) c.12508C>T (p.Pro4170Ser) c.12505C>T (p.Pro4169Ser) c.5892C>T c.12490C>T (p.Pro4164Ser) c.12520C>T (p.Pro4174Ser) | ClinVar dbSNP |