Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.110911105_110911107dup | CA891844540 | MYL2 | c.476_478dup (p.Ile159_Thr160insIle) c.419_421dup (p.Ile140_Thr141insIle) c.434_436dup (p.Ile145_Thr146insIle) | ClinVar dbSNP |
12 | g.110911103T>A | CA386696734 | MYL2 | c.475A>T (p.Ile159Phe) c.418A>T (p.Ile140Phe) c.433A>T (p.Ile145Phe) | |
12 | g.110911103T>C | CA043353 | MYL2 | c.475A>G (p.Ile159Val) c.418A>G (p.Ile140Val) c.433A>G (p.Ile145Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.110911103T>G | CA386696733 | MYL2 | c.475A>C (p.Ile159Leu) c.418A>C (p.Ile140Leu) c.433A>C (p.Ile145Leu) | |
12 | g.110911103T= | CA2063066695 | MYL2 | c.475A= (p.Ile159=) c.418A= (p.Ile140=) c.433A= (p.Ile145=) | |
12 | g.110911104G>A | CA481750686 | MYL2 | c.474C>T (p.Ile158=) c.417C>T (p.Ile139=) c.432C>T (p.Ile144=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110911104G>C | CA386696735 | MYL2 | c.474C>G (p.Ile158Met) c.417C>G (p.Ile139Met) c.432C>G (p.Ile144Met) | |
12 | g.110911104G= | CA2063066701 | MYL2 | c.474C= (p.Ile158=) c.417C= (p.Ile139=) c.432C= (p.Ile144=) | |
12 | g.110911104G>T | CA481750688 | MYL2 | c.474C>A (p.Ile158=) c.417C>A (p.Ile139=) c.432C>A (p.Ile144=) | |
12 | g.110911105A>C | CA386696736 | MYL2 | c.473T>G (p.Ile158Ser) c.416T>G (p.Ile139Ser) c.431T>G (p.Ile144Ser) | |
12 | g.110911105A>G | CA386696737 | MYL2 | c.473T>C (p.Ile158Thr) c.416T>C (p.Ile139Thr) c.431T>C (p.Ile144Thr) | ClinVar dbSNP |
12 | g.110911105A>T | CA386696738 | MYL2 | c.473T>A (p.Ile158Asn) c.416T>A (p.Ile139Asn) c.431T>A (p.Ile144Asn) | |
12 | g.110911106T>A | CA386696739 | MYL2 | c.472A>T (p.Ile158Phe) c.415A>T (p.Ile139Phe) c.430A>T (p.Ile144Phe) | |
12 | g.110911106T>C | CA386696740 | MYL2 | c.472A>G (p.Ile158Val) c.415A>G (p.Ile139Val) c.430A>G (p.Ile144Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.110911106T>G | CA386696741 | MYL2 | c.472A>C (p.Ile158Leu) c.415A>C (p.Ile139Leu) c.430A>C (p.Ile144Leu) | |
12 | g.110911106T= | CA2063066708 | MYL2 | c.472A= (p.Ile158=) c.415A= (p.Ile139=) c.430A= (p.Ile144=) | |
12 | g.110911107G>A | CA043304 | MYL2 | c.471C>T (p.His157=) c.414C>T (p.His138=) c.429C>T (p.His143=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.110911107G>C | CA386696742 | MYL2 | c.471C>G (p.His157Gln) c.414C>G (p.His138Gln) c.429C>G (p.His143Gln) | |
12 | g.110911107G= | CA2063066717 | MYL2 | c.471C= (p.His157=) c.414C= (p.His138=) c.429C= (p.His143=) | |
12 | g.110911107G>T | CA386696743 | MYL2 | c.471C>A (p.His157Gln) c.414C>A (p.His138Gln) c.429C>A (p.His143Gln) | |
12 | g.110911108T>A | CA386696745 | MYL2 | c.470A>T (p.His157Leu) c.413A>T (p.His138Leu) c.428A>T (p.His143Leu) | |
12 | g.110911108T>C | CA010412 | MYL2 | c.470A>G (p.His157Arg) c.413A>G (p.His138Arg) c.428A>G (p.His143Arg) | ClinVar dbSNP |
12 | g.110911108T>G | CA386696744 | MYL2 | c.470A>C (p.His157Pro) c.413A>C (p.His138Pro) c.428A>C (p.His143Pro) | dbSNP |
12 | g.110911108T= | CA2063066724 | MYL2 | c.470A= (p.His157=) c.413A= (p.His138=) c.428A= (p.His143=) | |
12 | g.110911109G>A | CA043261 | MYL2 | c.469C>T (p.His157Tyr) c.412C>T (p.His138Tyr) c.427C>T (p.His143Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110911109G>C | CA386696746 | MYL2 | c.469C>G (p.His157Asp) c.412C>G (p.His138Asp) c.427C>G (p.His143Asp) | gnomAD v4 |
12 | g.110911109G= | CA2063066735 | MYL2 | c.469C= (p.His157=) c.412C= (p.His138=) c.427C= (p.His143=) | |
12 | g.110911109G>T | CA386696747 | MYL2 | c.469C>A (p.His157Asn) c.412C>A (p.His138Asn) c.427C>A (p.His143Asn) | |
12 | g.110911110C>A | CA481750703 | MYL2 | c.468G>T (p.Val156=) c.411G>T (p.Val137=) c.426G>T (p.Val142=) | dbSNP |
12 | g.110911110C= | CA2063066751 | MYL2 | c.468G= (p.Val156=) c.411G= (p.Val137=) c.426G= (p.Val142=) | |
12 | g.110911110C>G | CA481750702 | MYL2 | c.468G>C (p.Val156=) c.411G>C (p.Val137=) c.426G>C (p.Val142=) | |
12 | g.110911110C>T | CA043244 | MYL2 | c.468G>A (p.Val156=) c.411G>A (p.Val137=) c.426G>A (p.Val142=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110911111A= | CA2063066762 | MYL2 | c.467T= (p.Val156=) c.410T= (p.Val137=) c.425T= (p.Val142=) | |
12 | g.110911111A>C | CA386696748 | MYL2 | c.467T>G (p.Val156Gly) c.410T>G (p.Val137Gly) c.425T>G (p.Val142Gly) | |
12 | g.110911111A>G | CA386696749 | MYL2 | c.467T>C (p.Val156Ala) c.410T>C (p.Val137Ala) c.425T>C (p.Val142Ala) | dbSNP gnomAD v4 |
12 | g.110911111A>T | CA386696750 | MYL2 | c.467T>A (p.Val156Glu) c.410T>A (p.Val137Glu) c.425T>A (p.Val142Glu) | |
12 | g.110911112C>A | CA043231 | MYL2 | c.466G>T (p.Val156Leu) c.409G>T (p.Val137Leu) c.424G>T (p.Val142Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.110911112C= | CA2063066769 | MYL2 | c.466G= (p.Val156=) c.409G= (p.Val137=) c.424G= (p.Val142=) | |
12 | g.110911112C>G | CA386696751 | MYL2 | c.466G>C (p.Val156Leu) c.409G>C (p.Val137Leu) c.424G>C (p.Val142Leu) | |
12 | g.110911112C>T | CA386696752 | MYL2 | c.466G>A (p.Val156Met) c.409G>A (p.Val137Met) c.424G>A (p.Val142Met) | dbSNP |
12 | g.110911113C>A | CA481750710 | MYL2 | c.465G>T (p.Leu155=) c.408G>T (p.Leu136=) c.423G>T (p.Leu141=) | |
12 | g.110911113C= | CA2063066775 | MYL2 | c.465G= (p.Leu155=) c.408G= (p.Leu136=) c.423G= (p.Leu141=) | |
12 | g.110911113C>G | CA481750713 | MYL2 | c.465G>C (p.Leu155=) c.408G>C (p.Leu136=) c.423G>C (p.Leu141=) | ClinVar dbSNP |
12 | g.110911113C>T | CA481750711 | MYL2 | c.465G>A (p.Leu155=) c.408G>A (p.Leu136=) c.423G>A (p.Leu141=) | |
12 | g.110911114A>C | CA386696753 | MYL2 | c.464T>G (p.Leu155Arg) c.407T>G (p.Leu136Arg) c.422T>G (p.Leu141Arg) | |
12 | g.110911114A>G | CA386696754 | MYL2 | c.464T>C (p.Leu155Pro) c.407T>C (p.Leu136Pro) c.422T>C (p.Leu141Pro) | |
12 | g.110911114A>T | CA386696755 | MYL2 | c.464T>A (p.Leu155Gln) c.407T>A (p.Leu136Gln) c.422T>A (p.Leu141Gln) | |
12 | g.110911115G>A | CA481750717 | MYL2 | c.463C>T (p.Leu155=) c.406C>T (p.Leu136=) c.421C>T (p.Leu141=) | ClinVar dbSNP |
12 | g.110911115G>C | CA386696757 | MYL2 | c.463C>G (p.Leu155Val) c.406C>G (p.Leu136Val) c.421C>G (p.Leu141Val) | |
12 | g.110911115G= | CA2063066782 | MYL2 | c.463C= (p.Leu155=) c.406C= (p.Leu136=) c.421C= (p.Leu141=) |