| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.46859498_46859502delinsCGTGGTGACATGCAGTAATGGTTTGCTGGAGCATCTGGATCCATGCTGATTTGCCAGGCCCCCTGGTGGTAGGCGCTGACACCTATGGAGAAGTGAGAAGGTCGAGTGAG | CA2580069872 | MYL3 | c.454_458delinsCTCACTCGACCTTCTCACTTCTCCATAGGTGTCAGCGCCTACCACCAGGGGGCCTGGCAAATCAGCATGGATCCAGATGCTCCAGCAAACCATTACTGCATGTCACCACG (p.Glu152_Leu153delinsLeuThrArgProSerHisPheSerIleGlyValSerAlaTyrHisGlnGlyAlaTrpGlnIleSerMetAspProAspAlaProAlaAsnHisTyrCysMetSerProArg) n.676_680delinsCTCACTCGACCTTCTCACTTCTCCATAGGTGTCAGCGCCTACCACCAGGGGGCCTGGCAAATCAGCATGGATCCAGATGCTCCAGCAAACCATTACTGCATGTCACCACG n.412_416delinsCTCACTCGACCTTCTCACTTCTCCATAGGTGTCAGCGCCTACCACCAGGGGGCCTGGCAAATCAGCATGGATCCAGATGCTCCAGCAAACCATTACTGCATGTCACCACG | ClinVar |
| 3 | g.46859502C>A | CA352495914 | MYL3 | c.454G>T (p.Glu152Ter) n.676G>T n.412G>T | |
| 3 | g.46859502C= | CA1362297087 | MYL3 | c.454G= (p.Glu152=) n.676G= n.412G= | |
| 3 | g.46859502C>G | CA352495915 | MYL3 | c.454G>C (p.Glu152Gln) n.676G>C n.412G>C | |
| 3 | g.46859502C>T | CA013840 | MYL3 | c.454G>A (p.Glu152Lys) n.676G>A n.412G>A | ClinVar dbSNP |
| 3 | g.46859503A= | CA1362297088 | MYL3 | c.453T= (p.Ala151=) n.675T= n.411T= | |
| 3 | g.46859503A>C | CA433474369 | MYL3 | c.453T>G (p.Ala151=) n.675T>G n.411T>G | |
| 3 | g.46859503A>G | CA433474370 | MYL3 | c.453T>C (p.Ala151=) n.675T>C n.411T>C | dbSNP |
| 3 | g.46859503A>T | CA433474371 | MYL3 | c.453T>A (p.Ala151=) n.675T>A n.411T>A | dbSNP |
| 3 | g.46859504G>A | CA10576624 | MYL3 | c.452C>T (p.Ala151Val) n.674C>T n.410C>T | ClinVar dbSNP |
| 3 | g.46859504G>C | CA352495919 | MYL3 | c.452C>G (p.Ala151Gly) n.674C>G n.410C>G | |
| 3 | g.46859504G= | CA1362297089 | MYL3 | c.452C= (p.Ala151=) n.674C= n.410C= | |
| 3 | g.46859504G>T | CA352495917 | MYL3 | c.452C>A (p.Ala151Asp) n.674C>A n.410C>A | |
| 3 | g.46859505C>A | CA352495921 | MYL3 | c.451G>T (p.Ala151Ser) n.673G>T n.409G>T | |
| 3 | g.46859505C= | CA1362297090 | MYL3 | c.451G= (p.Ala151=) n.673G= n.409G= | |
| 3 | g.46859505C>G | CA352495922 | MYL3 | c.451G>C (p.Ala151Pro) n.673G>C n.409G>C | |
| 3 | g.46859505C>T | CA352093 | MYL3 | c.451G>A (p.Ala151Thr) n.673G>A n.409G>A | ClinVar dbSNP |
| 3 | g.46859506A= | CA1362297091 | MYL3 | c.450T= (p.Gly150=) n.672T= n.408T= | |
| 3 | g.46859506A>C | CA433474374 | MYL3 | c.450T>G (p.Gly150=) n.672T>G n.408T>G | |
| 3 | g.46859506A>G | CA433474373 | MYL3 | c.450T>C (p.Gly150=) n.672T>C n.408T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.46859506A>T | CA433474372 | MYL3 | c.450T>A (p.Gly150=) n.672T>A n.408T>A | |
| 3 | g.46859507C>A | CA352495924 | MYL3 | c.449G>T (p.Gly150Val) n.671G>T n.407G>T | |
| 3 | g.46859507C= | CA1362297092 | MYL3 | c.449G= (p.Gly150=) n.671G= n.407G= | |
| 3 | g.46859507C>G | CA352495926 | MYL3 | c.449G>C (p.Gly150Ala) n.671G>C n.407G>C | |
| 3 | g.46859507C>T | CA352495928 | MYL3 | c.449G>A (p.Gly150Asp) n.671G>A n.407G>A | ClinVar dbSNP |
| 3 | g.46859508C>A | CA352495929 | MYL3 | c.448G>T (p.Gly150Cys) n.670G>T n.406G>T | |
| 3 | g.46859508C>G | CA352495931 | MYL3 | c.448G>C (p.Gly150Arg) n.670G>C n.406G>C | |
| 3 | g.46859508C>T | CA352495933 | MYL3 | c.448G>A (p.Gly150Ser) n.670G>A n.406G>A | |
| 3 | g.46859509C>A | CA013830 | MYL3 | c.447G>T (p.Met149Ile) n.669G>T n.405G>T | ClinVar dbSNP COSMIC |
| 3 | g.46859509C= | CA1362297093 | MYL3 | c.447G= (p.Met149=) n.669G= n.405G= | |
| 3 | g.46859509C>G | CA352495936 | MYL3 | c.447G>C (p.Met149Ile) n.669G>C n.405G>C | |
| 3 | g.46859509C>T | CA013812 | MYL3 | c.447G>A (p.Met149Ile) n.669G>A n.405G>A | ClinVar dbSNP |
| 3 | g.46859510A= | CA1362297094 | MYL3 | c.446T= (p.Met149=) n.668T= n.404T= | |
| 3 | g.46859510A>C | CA352495939 | MYL3 | c.446T>G (p.Met149Arg) n.668T>G n.404T>G | |
| 3 | g.46859510A>G | CA013800 | MYL3 | c.446T>C (p.Met149Thr) n.668T>C n.404T>C | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 3 | g.46859510A>T | CA352495937 | MYL3 | c.446T>A (p.Met149Lys) n.668T>A n.404T>A | |
| 3 | g.46859511T>A | CA352495941 | MYL3 | c.445A>T (p.Met149Leu) n.667A>T n.403A>T | |
| 3 | g.46859511T>C | CA013784 | MYL3 | c.445A>G (p.Met149Val) n.667A>G n.403A>G | ClinVar dbSNP |
| 3 | g.46859511T>G | CA352495942 | MYL3 | c.445A>C (p.Met149Leu) n.667A>C n.403A>C | |
| 3 | g.46859511T= | CA1362297095 | MYL3 | c.445A= (p.Met149=) n.667A= n.403A= | |
| 3 | g.46859512G>A | CA433474375 | MYL3 | c.444C>T (p.Val148=) n.666C>T n.402C>T | dbSNP |
| 3 | g.46859512G>C | CA433474376 | MYL3 | c.444C>G (p.Val148=) n.666C>G n.402C>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.46859512G= | CA1362297096 | MYL3 | c.444C= (p.Val148=) n.666C= n.402C= | |
| 3 | g.46859512G>T | CA433474377 | MYL3 | c.444C>A (p.Val148=) n.666C>A n.402C>A | |
| 3 | g.46859513A>C | CA352495943 | MYL3 | c.443T>G (p.Val148Gly) n.665T>G n.401T>G | |
| 3 | g.46859513A>G | CA352495944 | MYL3 | c.443T>C (p.Val148Ala) n.665T>C n.401T>C | |
| 3 | g.46859513A>T | CA352495947 | MYL3 | c.443T>A (p.Val148Asp) n.665T>A n.401T>A | |
| 3 | g.46859514C>A | CA352495950 | MYL3 | c.442G>T (p.Val148Phe) n.664G>T n.400G>T | |
| 3 | g.46859514C>G | CA352495953 | MYL3 | c.442G>C (p.Val148Leu) n.664G>C n.400G>C | |
| 3 | g.46859514C>T | CA352495956 | MYL3 | c.442G>A (p.Val148Ile) n.664G>A n.400G>A |