Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.46859493G>A | CA352495898 | MYL3 | c.463C>T (p.His155Tyr) n.685C>T n.421C>T | |
3 | g.46859493G>C | CA013871 | MYL3 | c.463C>G (p.His155Asp) n.685C>G n.421C>G | ClinVar dbSNP |
3 | g.46859493G= | CA1362297080 | MYL3 | c.463C= (p.His155=) n.685C= n.421C= | |
3 | g.46859493G>T | CA352495899 | MYL3 | c.463C>A (p.His155Asn) n.685C>A n.421C>A | |
3 | g.46859494G>A | CA433474361 | MYL3 | c.462C>T (p.Arg154=) n.684C>T n.420C>T | dbSNP |
3 | g.46859494G>C | CA433474362 | MYL3 | c.462C>G (p.Arg154=) n.684C>G n.420C>G | |
3 | g.46859494G= | CA1362297081 | MYL3 | c.462C= (p.Arg154=) n.684C= n.420C= | |
3 | g.46859494G>T | CA433474363 | MYL3 | c.462C>A (p.Arg154=) n.684C>A n.420C>A | |
3 | g.46859495C>A | CA044228 | MYL3 | c.461G>T (p.Arg154Leu) n.683G>T n.419G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.46859495C= | CA1362297082 | MYL3 | c.461G= (p.Arg154=) n.683G= n.419G= | |
3 | g.46859495C>G | CA352495900 | MYL3 | c.461G>C (p.Arg154Pro) n.683G>C n.419G>C | |
3 | g.46859495C>T | CA013861 | MYL3 | c.461G>A (p.Arg154His) n.683G>A n.419G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.46859496G>A | CA013849 | MYL3 | c.460C>T (p.Arg154Cys) n.682C>T n.418C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46859496G>C | CA352495902 | MYL3 | c.460C>G (p.Arg154Gly) n.682C>G n.418C>G | |
3 | g.46859496G= | CA1362297083 | MYL3 | c.460C= (p.Arg154=) n.682C= n.418C= | |
3 | g.46859496G>T | CA352495901 | MYL3 | c.460C>A (p.Arg154Ser) n.682C>A n.418C>A | |
3 | g.46859497A= | CA1362297084 | MYL3 | c.459T= (p.Leu153=) n.681T= n.417T= | |
3 | g.46859497A>C | CA433474365 | MYL3 | c.459T>G (p.Leu153=) n.681T>G n.417T>G | |
3 | g.46859497A>G | CA433474366 | MYL3 | c.459T>C (p.Leu153=) n.681T>C n.417T>C | dbSNP |
3 | g.46859497A>T | CA433474367 | MYL3 | c.459T>A (p.Leu153=) n.681T>A n.417T>A | |
3 | g.46859497_46859498insCGTGGTGACATGCAGTAATGGTTTGCTGG | CA2825001243 | MYL3 | c.458_459insCCAGCAAACCATTACTGCATGTCACCACG (p.Arg154GlnfsTer21) n.680_681insCCAGCAAACCATTACTGCATGTCACCACG n.416_417insCCAGCAAACCATTACTGCATGTCACCACG | ClinVar |
3 | g.46859498A>C | CA352495903 | MYL3 | c.458T>G (p.Leu153Arg) n.680T>G n.416T>G | |
3 | g.46859498A>G | CA352495905 | MYL3 | c.458T>C (p.Leu153Pro) n.680T>C n.416T>C | |
3 | g.46859498A>T | CA352495904 | MYL3 | c.458T>A (p.Leu153His) n.680T>A n.416T>A | |
3 | g.46859498_46859499delinsAG | CA1362297085 | MYL3 | c.457_458delinsCT (p.Leu153=) n.679_680delinsCT n.415_416delinsCT | |
3 | g.46859498_46859502delinsCGTGGTGACATGCAGTAATGGTTTGCTGGAGCATCTGGATCCATGCTGATTTGCCAGGCCCCCTGGTGGTAGGCGCTGACACCTATGGAGAAGTGAGAAGGTCGAGTGAG | CA2580069872 | MYL3 | c.454_458delinsCTCACTCGACCTTCTCACTTCTCCATAGGTGTCAGCGCCTACCACCAGGGGGCCTGGCAAATCAGCATGGATCCAGATGCTCCAGCAAACCATTACTGCATGTCACCACG (p.Glu152_Leu153delinsLeuThrArgProSerHisPheSerIleGlyValSerAlaTyrHisGlnGlyAlaTrpGlnIleSerMetAspProAspAlaProAlaAsnHisTyrCysMetSerProArg) n.676_680delinsCTCACTCGACCTTCTCACTTCTCCATAGGTGTCAGCGCCTACCACCAGGGGGCCTGGCAAATCAGCATGGATCCAGATGCTCCAGCAAACCATTACTGCATGTCACCACG n.412_416delinsCTCACTCGACCTTCTCACTTCTCCATAGGTGTCAGCGCCTACCACCAGGGGGCCTGGCAAATCAGCATGGATCCAGATGCTCCAGCAAACCATTACTGCATGTCACCACG | ClinVar |
3 | g.46859499del | CA16617973 | MYL3 | c.457del (p.Leu153PhefsTer12) n.679del n.415del | ClinVar dbSNP gnomAD v4 |
3 | g.46859499G>A | CA352495906 | MYL3 | c.457C>T (p.Leu153Phe) n.679C>T n.415C>T | |
3 | g.46859499G>C | CA352495907 | MYL3 | c.457C>G (p.Leu153Val) n.679C>G n.415C>G | gnomAD v4 |
3 | g.46859499G>T | CA352495908 | MYL3 | c.457C>A (p.Leu153Ile) n.679C>A n.415C>A | gnomAD v4 |
3 | g.46859500C>A | CA044187 | MYL3 | c.456G>T (p.Glu152Asp) n.678G>T n.414G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.46859500C= | CA1362297086 | MYL3 | c.456G= (p.Glu152=) n.678G= n.414G= | |
3 | g.46859500C>G | CA352495909 | MYL3 | c.456G>C (p.Glu152Asp) n.678G>C n.414G>C | |
3 | g.46859500C>T | CA433474368 | MYL3 | c.456G>A (p.Glu152=) n.678G>A n.414G>A | |
3 | g.46859500_46859501insA | CA2825001244 | MYL3 | c.455_456insT (p.Glu152AspfsTer11) n.677_678insT n.413_414insT | ClinVar |
3 | g.46859501T>A | CA352495910 | MYL3 | c.455A>T (p.Glu152Val) n.677A>T n.413A>T | |
3 | g.46859501T>C | CA352495911 | MYL3 | c.455A>G (p.Glu152Gly) n.677A>G n.413A>G | |
3 | g.46859501T>G | CA352495912 | MYL3 | c.455A>C (p.Glu152Ala) n.677A>C n.413A>C | |
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.46859502_46859503insTGGATCCATGCTGATTTGCCAGGCCCCCTGGTGGTAGGCGCTGACACCTATGGAGAAGTGAGAAGGTCGAGTGAG | CA2825001245 | MYL3 | c.453_454insCTCACTCGACCTTCTCACTTCTCCATAGGTGTCAGCGCCTACCACCAGGGGGCCTGGCAAATCAGCATGGATCCA (p.Ala151_Glu152insLeuThrArgProSerHisPheSerIleGlyValSerAlaTyrHisGlnGlyAlaTrpGlnIleSerMetAspPro) n.675_676insCTCACTCGACCTTCTCACTTCTCCATAGGTGTCAGCGCCTACCACCAGGGGGCCTGGCAAATCAGCATGGATCCA n.411_412insCTCACTCGACCTTCTCACTTCTCCATAGGTGTCAGCGCCTACCACCAGGGGGCCTGGCAAATCAGCATGGATCCA | ClinVar |
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 | |
3 | g.46859515A>C | CA433474378 | MYL3 | c.441T>G (p.Thr147=) n.663T>G n.399T>G | |
3 | g.46859515A>G | CA433474379 | MYL3 | c.441T>C (p.Thr147=) n.663T>C n.399T>C | ClinVar gnomAD v4 |
3 | g.46859515A>T | CA433474380 | MYL3 | c.441T>A (p.Thr147=) n.663T>A n.399T>A | dbSNP |
3 | g.46859516G>A | CA352495959 | MYL3 | c.440C>T (p.Thr147Ile) n.662C>T n.398C>T | |
3 | g.46859516G>C | CA352495962 | MYL3 | c.440C>G (p.Thr147Ser) n.662C>G n.398C>G | |
3 | g.46859516G>T | CA352495965 | MYL3 | c.440C>A (p.Thr147Asn) n.662C>A n.398C>A | |
3 | g.46859517T>A | CA352495971 | MYL3 | c.439A>T (p.Thr147Ser) n.661A>T n.397A>T | |
3 | g.46859517T>C | CA044165 | MYL3 | c.439A>G (p.Thr147Ala) n.661A>G n.397A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.46859517T>G | CA352495967 | MYL3 | c.439A>C (p.Thr147Pro) n.661A>C n.397A>C | |
3 | g.46859517T= | CA1362297097 | MYL3 | c.439A= (p.Thr147=) n.661A= n.397A= | |
3 | g.46859518G>A | CA433474381 | MYL3 | c.438C>T (p.Gly146=) n.660C>T n.396C>T | |
3 | g.46859518G>C | CA433474382 | MYL3 | c.438C>G (p.Gly146=) n.660C>G n.396C>G | |
3 | g.46859518G= | CA1362297098 | MYL3 | c.438C= (p.Gly146=) n.660C= n.396C= | |
3 | g.46859518G>T | CA433474383 | MYL3 | c.438C>A (p.Gly146=) n.660C>A n.396C>A | dbSNP |
3 | g.46859519C>A | CA352495974 | MYL3 | c.437G>T (p.Gly146Val) n.659G>T n.395G>T | |
3 | g.46859519C= | CA1362297099 | MYL3 | c.437G= (p.Gly146=) n.659G= n.395G= | |
3 | g.46859519C>G | CA352495977 | MYL3 | c.437G>C (p.Gly146Ala) n.659G>C n.395G>C | |
3 | g.46859519C>T | CA352495979 | MYL3 | c.437G>A (p.Gly146Asp) n.659G>A n.395G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.46859520C>A | CA352495981 | MYL3 | c.436G>T (p.Gly146Cys) n.658G>T n.394G>T | |
3 | g.46859520C>G | CA352495984 | MYL3 | c.436G>C (p.Gly146Arg) n.658G>C n.394G>C | |
3 | g.46859520C>T | CA352495986 | MYL3 | c.436G>A (p.Gly146Ser) n.658G>A n.394G>A | |
3 | g.46859521A= | CA1362297100 | MYL3 | c.435T= (p.Asn145=) n.657T= n.393T= | |
3 | g.46859521A>C | CA352495987 | MYL3 | c.435T>G (p.Asn145Lys) n.657T>G n.393T>G | |
3 | g.46859521A>G | CA044149 | MYL3 | c.435T>C (p.Asn145=) n.657T>C n.393T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46859521A>T | CA16042471 | MYL3 | c.435T>A (p.Asn145Lys) n.657T>A n.393T>A | ClinVar dbSNP |
3 | g.46859522T>A | CA352495993 | MYL3 | c.434A>T (p.Asn145Ile) n.656A>T n.392A>T | |
3 | g.46859522T>C | CA352495995 | MYL3 | c.434A>G (p.Asn145Ser) n.656A>G n.392A>G | |
3 | g.46859522T>G | CA352495998 | MYL3 | c.434A>C (p.Asn145Thr) n.656A>C n.392A>C | ClinVar |
3 | g.46859523T>A | CA352496001 | MYL3 | c.433A>T (p.Asn145Tyr) n.655A>T n.391A>T | |
3 | g.46859523T>C | CA352496006 | MYL3 | c.433A>G (p.Asn145Asp) n.655A>G n.391A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46859523T>G | CA352496003 | MYL3 | c.433A>C (p.Asn145His) n.655A>C n.391A>C | |
3 | g.46859523T= | CA1362297101 | MYL3 | c.433A= (p.Asn145=) n.655A= n.391A= | |
3 | g.46859524G>A | CA433474384 | MYL3 | c.432C>T (p.Gly144=) n.654C>T n.390C>T | ClinVar |
3 | g.46859524G>C | CA433474385 | MYL3 | c.432C>G (p.Gly144=) n.654C>G n.390C>G | |
3 | g.46859524G>T | CA433474386 | MYL3 | c.432C>A (p.Gly144=) n.654C>A n.390C>A | |
3 | g.46859525C>A | CA352496008 | MYL3 | c.431G>T (p.Gly144Val) n.653G>T n.389G>T | gnomAD v4 |
3 | g.46859525C>G | CA352496014 | MYL3 | c.431G>C (p.Gly144Ala) n.653G>C n.389G>C | |
3 | g.46859525C>T | CA352496012 | MYL3 | c.431G>A (p.Gly144Asp) n.653G>A n.389G>A | ClinVar |
3 | g.46859526C>A | CA352496018 | MYL3 | c.430G>T (p.Gly144Cys) n.652G>T n.388G>T | |
3 | g.46859526C= | CA1362297102 | MYL3 | c.430G= (p.Gly144=) n.652G= n.388G= | |
3 | g.46859526C>G | CA352496023 | MYL3 | c.430G>C (p.Gly144Arg) n.652G>C n.388G>C | |
3 | g.46859526C>T | CA352496021 | MYL3 | c.430G>A (p.Gly144Ser) n.652G>A n.388G>A | ClinVar dbSNP |
3 | g.46859527C>A | CA352496026 | MYL3 | c.429G>T (p.Glu143Asp) n.651G>T n.387G>T | |
3 | g.46859527C= | CA1362297103 | MYL3 | c.429G= (p.Glu143=) n.651G= n.387G= | |
3 | g.46859527C>G | CA352496030 | MYL3 | c.429G>C (p.Glu143Asp) n.651G>C n.387G>C | |
3 | g.46859527C>T | CA044134 | MYL3 | c.429G>A (p.Glu143=) n.651G>A n.387G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.46859528T>A | CA352496032 | MYL3 | c.428A>T (p.Glu143Val) n.650A>T n.386A>T | |
3 | g.46859528T>C | CA352496035 | MYL3 | c.428A>G (p.Glu143Gly) n.650A>G n.386A>G | |
3 | g.46859528T>G | CA352496037 | MYL3 | c.428A>C (p.Glu143Ala) n.650A>C n.386A>C | |
3 | g.46859529C>A | CA352496039 | MYL3 | c.427G>T (p.Glu143Ter) n.649G>T n.385G>T | |
3 | g.46859529C= | CA1362297104 | MYL3 | c.427G= (p.Glu143=) n.649G= n.385G= | |
3 | g.46859529C>G | CA352496041 | MYL3 | c.427G>C (p.Glu143Gln) n.649G>C n.385G>C | |
3 | g.46859529C>T | CA013774 | MYL3 | c.427G>A (p.Glu143Lys) n.649G>A n.385G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46859530C>A | CA352496046 | MYL3 | c.426G>T (p.Lys142Asn) n.648G>T n.384G>T | |
3 | g.46859530C= | CA1362297105 | MYL3 | c.426G= (p.Lys142=) n.648G= n.384G= | |
3 | g.46859530C>G | CA352496049 | MYL3 | c.426G>C (p.Lys142Asn) n.648G>C n.384G>C | |
3 | g.46859530C>T | CA433474387 | MYL3 | c.426G>A (p.Lys142=) n.648G>A n.384G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.46859531T>A | CA352496052 | MYL3 | c.425A>T (p.Lys142Met) n.647A>T n.383A>T | |
3 | g.46859531T>C | CA352496054 | MYL3 | c.425A>G (p.Lys142Arg) n.647A>G n.383A>G | |
3 | g.46859531T>G | CA352496057 | MYL3 | c.425A>C (p.Lys142Thr) n.647A>C n.383A>C | |
3 | g.46859532T>A | CA352496065 | MYL3 | c.424A>T (p.Lys142Ter) n.646A>T n.382A>T | |
3 | g.46859532T>C | CA352496062 | MYL3 | c.424A>G (p.Lys142Glu) n.646A>G n.382A>G | ClinVar dbSNP |
3 | g.46859532T>G | CA352496059 | MYL3 | c.424A>C (p.Lys142Gln) n.646A>C n.382A>C | |
3 | g.46859532T= | CA1362297106 | MYL3 | c.424A= (p.Lys142=) n.646A= n.382A= | |
3 | g.46859533G>A | CA433474388 | MYL3 | c.423C>T (p.Asp141=) n.645C>T n.381C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46859533G>C | CA352496067 | MYL3 | c.423C>G (p.Asp141Glu) n.645C>G n.381C>G | |
3 | g.46859533G= | CA1362297107 | MYL3 | c.423C= (p.Asp141=) n.645C= n.381C= | |
3 | g.46859533G>T | CA352496071 | MYL3 | c.423C>A (p.Asp141Glu) n.645C>A n.381C>A | |
3 | g.46859534T>A | CA352496073 | MYL3 | c.422A>T (p.Asp141Val) n.644A>T n.380A>T | |
3 | g.46859534T>C | CA352496075 | MYL3 | c.422A>G (p.Asp141Gly) n.644A>G n.380A>G | |
3 | g.46859534T>G | CA352496077 | MYL3 | c.422A>C (p.Asp141Ala) n.644A>C n.380A>C | |
3 | g.46859535C>A | CA352496080 | MYL3 | c.421G>T (p.Asp141Tyr) n.643G>T n.379G>T | ClinVar dbSNP |
3 | g.46859535C= | CA1362297108 | MYL3 | c.421G= (p.Asp141=) n.643G= n.379G= | |
3 | g.46859535C>G | CA352496082 | MYL3 | c.421G>C (p.Asp141His) n.643G>C n.379G>C | |
3 | g.46859535C>T | CA352496085 | MYL3 | c.421G>A (p.Asp141Asn) n.643G>A n.379G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.46859536G>A | CA044119 | MYL3 | c.420C>T (p.Phe140=) n.642C>T n.378C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46859536G>C | CA352496090 | MYL3 | c.420C>G (p.Phe140Leu) n.642C>G n.378C>G | gnomAD v4 |
3 | g.46859536G= | CA1362297109 | MYL3 | c.420C= (p.Phe140=) n.642C= n.378C= | |
3 | g.46859536G>T | CA352496092 | MYL3 | c.420C>A (p.Phe140Leu) n.642C>A n.378C>A | |
3 | g.46859537A= | CA1362297110 | MYL3 | c.419T= (p.Phe140=) n.641T= n.377T= | |
3 | g.46859537A>C | CA352496100 | MYL3 | c.419T>G (p.Phe140Cys) n.641T>G n.377T>G | ClinVar dbSNP gnomAD v4 |
3 | g.46859537A>G | CA352496097 | MYL3 | c.419T>C (p.Phe140Ser) n.641T>C n.377T>C | ClinVar |
3 | g.46859537A>T | CA352496094 | MYL3 | c.419T>A (p.Phe140Tyr) n.641T>A n.377T>A | |
3 | g.46859538A>C | CA352496102 | MYL3 | c.418T>G (p.Phe140Val) n.640T>G n.376T>G | |
3 | g.46859538A>G | CA352496105 | MYL3 | c.418T>C (p.Phe140Leu) n.640T>C n.376T>C | ClinVar |
3 | g.46859538A>T | CA352496107 | MYL3 | c.418T>A (p.Phe140Ile) n.640T>A n.376T>A | |
3 | g.46859539G>A | CA433474389 | MYL3 | c.417C>T (p.Val139=) n.639C>T n.375C>T | |
3 | g.46859539G>C | CA433474390 | MYL3 | c.417C>G (p.Val139=) n.639C>G n.375C>G | |
3 | g.46859539G>T | CA433474391 | MYL3 | c.417C>A (p.Val139=) n.639C>A n.375C>A | |
3 | g.46859540A= | CA1362297111 | MYL3 | c.416T= (p.Val139=) n.638T= n.374T= | |
3 | g.46859540A>C | CA352496110 | MYL3 | c.416T>G (p.Val139Gly) n.638T>G n.374T>G | dbSNP |
3 | g.46859540A>G | CA352496112 | MYL3 | c.416T>C (p.Val139Ala) n.638T>C n.374T>C | |
3 | g.46859540A>T | CA352496115 | MYL3 | c.416T>A (p.Val139Asp) n.638T>A n.374T>A | |
3 | g.46859541C>A | CA352496117 | MYL3 | c.415G>T (p.Val139Phe) n.637G>T n.373G>T | |
3 | g.46859541C>G | CA352496118 | MYL3 | c.415G>C (p.Val139Leu) n.637G>C n.373G>C | gnomAD v4 |
3 | g.46859541C>T | CA352496119 | MYL3 | c.415G>A (p.Val139Ile) n.637G>A n.373G>A | |
3 | g.46859542C>A | CA433474392 | MYL3 | c.414G>T (p.Arg138=) n.636G>T n.372G>T | |
3 | g.46859542C>G | CA433474393 | MYL3 | c.414G>C (p.Arg138=) n.636G>C n.372G>C | |
3 | g.46859542C>T | CA433474394 | MYL3 | c.414G>A (p.Arg138=) n.636G>A n.372G>A | |
3 | g.46859543C>A | CA352496120 | MYL3 | c.413G>T (p.Arg138Leu) n.635G>T n.371G>T | |
3 | g.46859543C= | CA1362297112 | MYL3 | c.413G= (p.Arg138=) n.635G= n.371G= | |
3 | g.46859543C>G | CA352496121 | MYL3 | c.413G>C (p.Arg138Pro) n.635G>C n.371G>C | |
3 | g.46859543C>T | CA16604615 | MYL3 | c.413G>A (p.Arg138Gln) n.635G>A n.371G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.46859544G>A | CA352496124 | MYL3 | c.412C>T (p.Arg138Trp) n.634C>T n.370C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.46859544G>C | CA352496122 | MYL3 | c.412C>G (p.Arg138Gly) n.634C>G n.370C>G | |
3 | g.46859544G= | CA1362297113 | MYL3 | c.412C= (p.Arg138=) n.634C= n.370C= | |
3 | g.46859544G>T | CA433474395 | MYL3 | c.412C>A (p.Arg138=) n.634C>A n.370C>A | ClinVar dbSNP |
3 | g.46859545C>A | CA044106 | MYL3 | c.411G>T (p.Leu137=) n.633G>T n.369G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46859545C= | CA1362297114 | MYL3 | c.411G= (p.Leu137=) n.633G= n.369G= | |
3 | g.46859545C>G | CA433474396 | MYL3 | c.411G>C (p.Leu137=) n.633G>C n.369G>C | |
3 | g.46859545C>T | CA044089 | MYL3 | c.411G>A (p.Leu137=) n.633G>A n.369G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46859546A= | CA1362297115 | MYL3 | c.410T= (p.Leu137=) n.632T= n.368T= | |
3 | g.46859546A>C | CA352496128 | MYL3 | c.410T>G (p.Leu137Arg) n.632T>G n.368T>G | |
3 | g.46859546A>G | CA352496129 | MYL3 | c.410T>C (p.Leu137Pro) n.632T>C n.368T>C | dbSNP |
3 | g.46859546A>T | CA352496130 | MYL3 | c.410T>A (p.Leu137Gln) n.632T>A n.368T>A | gnomAD v4 |
3 | g.46859546dup | CA2359048 | MYL3 | c.410dup (p.Arg138AlafsTer15) n.632dup n.368dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46859547G>A | CA433474397 | MYL3 | c.409C>T (p.Leu137=) n.631C>T n.367C>T | |
3 | g.46859547G>C | CA352496131 | MYL3 | c.409C>G (p.Leu137Val) n.631C>G n.367C>G | |
3 | g.46859547G>T | CA352496133 | MYL3 | c.409C>A (p.Leu137Met) n.631C>A n.367C>A | |
3 | g.46859548C>A | CA044066 | MYL3 | c.408G>T (p.Gly136=) n.630G>T n.366G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.46859548C= | CA1362297116 | MYL3 | c.408G= (p.Gly136=) n.630G= n.366G= | |
3 | g.46859548C>G | CA433474399 | MYL3 | c.408G>C (p.Gly136=) n.630G>C n.366G>C | |
3 | g.46859548C>T | CA433474398 | MYL3 | c.408G>A (p.Gly136=) n.630G>A n.366G>A | |
3 | g.46859551dup | CA2838383758 | MYL3 | c.408dup (p.Leu137AlafsTer16) n.630dup n.366dup | |
3 | g.46859549C>A | CA352496135 | MYL3 | c.407G>T (p.Gly136Val) n.629G>T n.365G>T | |
3 | g.46859549C>G | CA352496137 | MYL3 | c.407G>C (p.Gly136Ala) n.629G>C n.365G>C | |
3 | g.46859549C>T | CA352496139 | MYL3 | c.407G>A (p.Gly136Glu) n.629G>A n.365G>A | |
3 | g.46859550C>A | CA352496146 | MYL3 | c.406G>T (p.Gly136Trp) n.628G>T n.364G>T | |
3 | g.46859550C= | CA1362297117 | MYL3 | c.406G= (p.Gly136=) n.628G= n.364G= | |
3 | g.46859550C>G | CA352496143 | MYL3 | c.406G>C (p.Gly136Arg) n.628G>C n.364G>C | |
3 | g.46859550C>T | CA352496141 | MYL3 | c.406G>A (p.Gly136Arg) n.628G>A n.364G>A | |
3 | g.46859551C>A | CA352496149 | MYL3 | c.405G>T (p.Glu135Asp) n.627G>T n.363G>T | |
3 | g.46859551C= | CA1362297118 | MYL3 | c.405G= (p.Glu135=) n.627G= n.363G= | |
3 | g.46859551C>G | CA352496151 | MYL3 | c.405G>C (p.Glu135Asp) n.627G>C n.363G>C | |
3 | g.46859551C>T | CA433474401 | MYL3 | c.405G>A (p.Glu135=) n.627G>A n.363G>A | ClinVar dbSNP |
3 | g.46859552_46859556dup | CA1139658040 | MYL3 | c.401_405dup (p.Gly136TrpfsTer31) n.623_627dup n.359_363dup | ClinVar dbSNP |
3 | g.46859552T>A | CA352496154 | MYL3 | c.404A>T (p.Glu135Val) n.626A>T n.362A>T | |
3 | g.46859552T>C | CA352496156 | MYL3 | c.404A>G (p.Glu135Gly) n.626A>G n.362A>G | |
3 | g.46859552T>G | CA352496158 | MYL3 | c.404A>C (p.Glu135Ala) n.626A>C n.362A>C | |
3 | g.46859553C>A | CA352496160 | MYL3 | c.403G>T (p.Glu135Ter) n.625G>T n.361G>T | |
3 | g.46859553C>G | CA352496162 | MYL3 | c.403G>C (p.Glu135Gln) n.625G>C n.361G>C | |
3 | g.46859553C>T | CA352496163 | MYL3 | c.403G>A (p.Glu135Lys) n.625G>A n.361G>A | |
3 | g.46859554C>A | CA433474404 | MYL3 | c.402G>T (p.Val134=) n.624G>T n.360G>T | |
3 | g.46859554C>G | CA433474402 | MYL3 | c.402G>C (p.Val134=) n.624G>C n.360G>C | |
3 | g.46859554C>T | CA433474403 | MYL3 | c.402G>A (p.Val134=) n.624G>A n.360G>A | gnomAD v4 |
3 | g.46859555A>C | CA352496166 | MYL3 | c.401T>G (p.Val134Gly) n.623T>G n.359T>G | |
3 | g.46859555A>G | CA352496168 | MYL3 | c.401T>C (p.Val134Ala) n.623T>C n.359T>C | |
3 | g.46859555A>T | CA352496171 | MYL3 | c.401T>A (p.Val134Glu) n.623T>A n.359T>A | |
3 | g.46859556C>A | CA044054 | MYL3 | c.400G>T (p.Val134Leu) n.622G>T n.358G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.46859556C= | CA1362297119 | MYL3 | c.400G= (p.Val134=) n.622G= n.358G= | |
3 | g.46859556C>G | CA352496178 | MYL3 | c.400G>C (p.Val134Leu) n.622G>C n.358G>C | |
3 | g.46859556C>T | CA10587578 | MYL3 | c.400G>A (p.Val134Met) n.622G>A n.358G>A | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.46859557G>A | CA044007 | MYL3 | c.399C>T (p.Phe133=) n.621C>T n.357C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.46859557G>C | CA352496181 | MYL3 | c.399C>G (p.Phe133Leu) n.621C>G n.357C>G | |
3 | g.46859557G= | CA1362297120 | MYL3 | c.399C= (p.Phe133=) n.621C= n.357C= | |
3 | g.46859557G>T | CA352496185 | MYL3 | c.399C>A (p.Phe133Leu) n.621C>A n.357C>A | |
3 | g.46859558A= | CA1362297121 | MYL3 | c.398T= (p.Phe133=) n.620T= n.356T= | |
3 | g.46859558A>C | CA352496189 | MYL3 | c.398T>G (p.Phe133Cys) n.620T>G n.356T>G | |
3 | g.46859558A>G | CA352496193 | MYL3 | c.398T>C (p.Phe133Ser) n.620T>C n.356T>C | |
3 | g.46859558A>T | CA352496196 | MYL3 | c.398T>A (p.Phe133Tyr) n.620T>A n.356T>A | dbSNP |
3 | g.46859559A= | CA1362297122 | MYL3 | c.397T= (p.Phe133=) n.619T= n.355T= | |
3 | g.46859559A>C | CA352496199 | MYL3 | c.397T>G (p.Phe133Val) n.619T>G n.355T>G | |
3 | g.46859559A>G | CA352496202 | MYL3 | c.397T>C (p.Phe133Leu) n.619T>C n.355T>C | |
3 | g.46859559A>T | CA352496203 | MYL3 | c.397T>A (p.Phe133Ile) n.619T>A n.355T>A | ClinVar dbSNP |
3 | g.46859560G>A | CA433474405 | MYL3 | c.396C>T (p.Asp132=) n.618C>T n.354C>T | |
3 | g.46859560G>C | CA352496204 | MYL3 | c.396C>G (p.Asp132Glu) n.618C>G n.354C>G | |
3 | g.46859560G>T | CA352496205 | MYL3 | c.396C>A (p.Asp132Glu) n.618C>A n.354C>A | |
3 | g.46859561T>A | CA352496206 | MYL3 | c.395A>T (p.Asp132Val) n.617A>T n.353A>T | |
3 | g.46859561T>C | CA352496207 | MYL3 | c.395A>G (p.Asp132Gly) n.617A>G n.353A>G | |
3 | g.46859561T>G | CA352496210 | MYL3 | c.395A>C (p.Asp132Ala) n.617A>C n.353A>C | |
3 | g.46859562C>A | CA352496217 | MYL3 | c.394G>T (p.Asp132Tyr) n.616G>T n.352G>T | |
3 | g.46859562C>G | CA352496219 | MYL3 | c.394G>C (p.Asp132His) n.616G>C n.352G>C | |
3 | g.46859562C>T | CA352496215 | MYL3 | c.394G>A (p.Asp132Asn) n.616G>A n.352G>A | ClinVar |
3 | g.46859563C>A | CA352496223 | MYL3 | c.393G>T (p.Glu131Asp) n.615G>T n.351G>T | |
3 | g.46859563C= | CA1362297123 | MYL3 | c.393G= (p.Glu131=) n.615G= n.351G= | |
3 | g.46859563C>G | CA352496225 | MYL3 | c.393G>C (p.Glu131Asp) n.615G>C n.351G>C | |
3 | g.46859563C>T | CA043987 | MYL3 | c.393G>A (p.Glu131=) n.615G>A n.351G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46859564T>A | CA352496230 | MYL3 | c.392A>T (p.Glu131Val) n.614A>T n.350A>T | |
3 | g.46859564T>C | CA352496233 | MYL3 | c.392A>G (p.Glu131Gly) n.614A>G n.350A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46859564T>G | CA352496236 | MYL3 | c.392A>C (p.Glu131Ala) n.614A>C n.350A>C | |
3 | g.46859564T= | CA1362297124 | MYL3 | c.392A= (p.Glu131=) n.614A= n.350A= | |
3 | g.46859565C>A | CA352496248 | MYL3 | c.391G>T (p.Glu131Ter) n.613G>T n.349G>T | |
3 | g.46859565C>G | CA352496242 | MYL3 | c.391G>C (p.Glu131Gln) n.613G>C n.349G>C | |
3 | g.46859565C>T | CA352496246 | MYL3 | c.391G>A (p.Glu131Lys) n.613G>A n.349G>A | |
3 | g.46859566A= | CA1362297125 | MYL3 | c.390T= (p.Tyr130=) n.612T= n.348T= | |
3 | g.46859566A>C | CA352496255 | MYL3 | c.390T>G (p.Tyr130Ter) n.612T>G n.348T>G | |
3 | g.46859566A>G | CA73778259 | MYL3 | c.390T>C (p.Tyr130=) n.612T>C n.348T>C | dbSNP |
3 | g.46859566A>T | CA352496257 | MYL3 | c.390T>A (p.Tyr130Ter) n.612T>A n.348T>A | |
3 | g.46859567T>A | CA043976 | MYL3 | c.389A>T (p.Tyr130Phe) n.611A>T n.347A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46859567T>C | CA352496260 | MYL3 | c.389A>G (p.Tyr130Cys) n.611A>G n.347A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46859567T>G | CA352496262 | MYL3 | c.389A>C (p.Tyr130Ser) n.611A>C n.347A>C | |
3 | g.46859567T= | CA1362297126 | MYL3 | c.389A= (p.Tyr130=) n.611A= n.347A= | |
3 | g.46859568A>C | CA352496264 | MYL3 | c.388T>G (p.Tyr130Asp) n.610T>G n.346T>G | |
3 | g.46859568A>G | CA352496268 | MYL3 | c.388T>C (p.Tyr130His) n.610T>C n.346T>C | |
3 | g.46859568A>T | CA352496265 | MYL3 | c.388T>A (p.Tyr130Asn) n.610T>A n.346T>A | |
3 | g.46859569G>A | CA433474406 | MYL3 | c.387C>T (p.Thr129=) n.609C>T n.345C>T | |
3 | g.46859569G>C | CA433474407 | MYL3 | c.387C>G (p.Thr129=) n.609C>G n.345C>G | |
3 | g.46859569G= | CA1362297127 | MYL3 | c.387C= (p.Thr129=) n.609C= n.345C= | |
3 | g.46859569G>T | CA433474408 | MYL3 | c.387C>A (p.Thr129=) n.609C>A n.345C>A | dbSNP |
3 | g.46859570G>A | CA352496270 | MYL3 | c.386C>T (p.Thr129Ile) n.608C>T n.344C>T | gnomAD v4 |
3 | g.46859570G>C | CA352496271 | MYL3 | c.386C>G (p.Thr129Ser) n.608C>G n.344C>G | |
3 | g.46859570G>T | CA352496273 | MYL3 | c.386C>A (p.Thr129Asn) n.608C>A n.344C>A | |
3 | g.46859571T>A | CA352496275 | MYL3 | c.385A>T (p.Thr129Ser) n.607A>T n.343A>T | |
3 | g.46859571T>C | CA352496278 | MYL3 | c.385A>G (p.Thr129Ala) n.607A>G n.343A>G | |
3 | g.46859571T>G | CA352496280 | MYL3 | c.385A>C (p.Thr129Pro) n.607A>C n.343A>C | |
3 | g.46859572G>A | CA433474409 | MYL3 | c.384C>T (p.Gly128=) n.606C>T n.342C>T | |
3 | g.46859572G>C | CA433474410 | MYL3 | c.384C>G (p.Gly128=) n.606C>G n.342C>G | |
3 | g.46859572G>T | CA433474411 | MYL3 | c.384C>A (p.Gly128=) n.606C>A n.342C>A | |
3 | g.46859573C>A | CA352496283 | MYL3 | c.383G>T (p.Gly128Val) n.605G>T n.341G>T | ClinVar |
3 | g.46859573C= | CA1362297128 | MYL3 | c.383G= (p.Gly128=) n.605G= n.341G= | |
3 | g.46859573C>G | CA352496284 | MYL3 | c.383G>C (p.Gly128Ala) n.605G>C n.341G>C | ClinVar dbSNP |
3 | g.46859573C>T | CA351912 | MYL3 | c.383G>A (p.Gly128Asp) n.605G>A n.341G>A | ClinVar dbSNP gnomAD v4 |
3 | g.46859574C>A | CA013764 | MYL3 | c.382G>T (p.Gly128Cys) n.604G>T n.340G>T | ClinVar dbSNP |
3 | g.46859574C= | CA1362297129 | MYL3 | c.382G= (p.Gly128=) n.604G= n.340G= | |
3 | g.46859574C>G | CA352496285 | MYL3 | c.382G>C (p.Gly128Arg) n.604G>C n.340G>C | |
3 | g.46859574C>T | CA352496287 | MYL3 | c.382G>A (p.Gly128Ser) n.604G>A n.340G>A | |
3 | g.46859575T>A | CA433474412 | MYL3 | c.381A>T (p.Thr127=) n.603A>T n.339A>T | |
3 | g.46859575T>C | CA433474414 | MYL3 | c.381A>G (p.Thr127=) n.603A>G n.339A>G | dbSNP |
3 | g.46859575T>G | CA043964 | MYL3 | c.381A>C (p.Thr127=) n.603A>C n.339A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46859575T= | CA1362297130 | MYL3 | c.381A= (p.Thr127=) n.603A= n.339A= | |
3 | g.46859576G>A | CA352496294 | MYL3 | c.380C>T (p.Thr127Ile) n.602C>T n.338C>T | |
3 | g.46859576G>C | CA013755 | MYL3 | c.380C>G (p.Thr127Arg) n.602C>G n.338C>G | ClinVar dbSNP |
3 | g.46859576G= | CA1362297131 | MYL3 | c.380C= (p.Thr127=) n.602C= n.338C= | |
3 | g.46859576G>T | CA352496299 | MYL3 | c.380C>A (p.Thr127Lys) n.602C>A n.338C>A | gnomAD v4 |
3 | g.46859577T>A | CA352496301 | MYL3 | c.379A>T (p.Thr127Ser) n.601A>T n.337A>T | |
3 | g.46859577T>C | CA352496302 | MYL3 | c.379A>G (p.Thr127Ala) n.601A>G n.337A>G | |
3 | g.46859577T>G | CA352496306 | MYL3 | c.379A>C (p.Thr127Pro) n.601A>C n.337A>C | |
3 | g.46859578G>A | CA043951 | MYL3 | c.378C>T (p.Asp126=) n.600C>T n.336C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46859578G>C | CA352496311 | MYL3 | c.378C>G (p.Asp126Glu) n.600C>G n.336C>G | |
3 | g.46859578G= | CA1362297132 | MYL3 | c.378C= (p.Asp126=) n.600C= n.336C= | |
3 | g.46859578G>T | CA352496315 | MYL3 | c.378C>A (p.Asp126Glu) n.600C>A n.336C>A | |
3 | g.46859578_46859581delinsGTCC | CA1362297133 | MYL3 | c.375_378delinsGGAC (p.Lys125=) n.597_600delinsGGAC n.333_336delinsGGAC | |
3 | g.46859579T>A | CA352496326 | MYL3 | c.377A>T (p.Asp126Val) n.599A>T n.335A>T | |
3 | g.46859579T>C | CA352496319 | MYL3 | c.377A>G (p.Asp126Gly) n.599A>G n.335A>G | |
3 | g.46859579T>G | CA352496323 | MYL3 | c.377A>C (p.Asp126Ala) n.599A>C n.335A>C | |
3 | g.46859580_46859582del | CA907610218 | MYL3 | c.375_377del (p.Lys125_Asp126delinsAsn) n.597_599del n.333_335del | dbSNP |
3 | g.46859579_46859583del | CA913188105 | MYL3 | c.373_377del (p.Lys125HisfsTer5) n.595_599del n.331_335del | |
3 | g.46859580C>A | CA352496329 | MYL3 | c.376G>T (p.Asp126Tyr) n.598G>T n.334G>T | |
3 | g.46859580C= | CA1362297134 | MYL3 | c.376G= (p.Asp126=) n.598G= n.334G= | |
3 | g.46859580C>G | CA352496331 | MYL3 | c.376G>C (p.Asp126His) n.598G>C n.334G>C | |
3 | g.46859580C>T | CA352496335 | MYL3 | c.376G>A (p.Asp126Asn) n.598G>A n.334G>A | dbSNP gnomAD v4 |
3 | g.46859581C>A | CA352496336 | MYL3 | c.375G>T (p.Lys125Asn) n.597G>T n.333G>T | |
3 | g.46859581C= | CA1362297135 | MYL3 | c.375G= (p.Lys125=) n.597G= n.333G= | |
3 | g.46859581C>G | CA352496337 | MYL3 | c.375G>C (p.Lys125Asn) n.597G>C n.333G>C | |
3 | g.46859581C>T | CA433474417 | MYL3 | c.375G>A (p.Lys125=) n.597G>A n.333G>A | dbSNP COSMIC |
3 | g.46859582T>A | CA352496342 | MYL3 | c.374A>T (p.Lys125Met) n.596A>T n.332A>T | dbSNP |
3 | g.46859582T>C | CA043932 | MYL3 | c.374A>G (p.Lys125Arg) n.596A>G n.332A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46859582T>G | CA352496340 | MYL3 | c.374A>C (p.Lys125Thr) n.596A>C n.332A>C | |
3 | g.46859582T= | CA1362297136 | MYL3 | c.374A= (p.Lys125=) n.596A= n.332A= | |
3 | g.46859583T>A | CA352496345 | MYL3 | c.373A>T (p.Lys125Ter) n.595A>T n.331A>T | |
3 | g.46859583T>C | CA352496350 | MYL3 | c.373A>G (p.Lys125Glu) n.595A>G n.331A>G | |
3 | g.46859583T>G | CA352496363 | MYL3 | c.373A>C (p.Lys125Gln) n.595A>C n.331A>C | dbSNP |
3 | g.46859583T= | CA1362297137 | MYL3 | c.373A= (p.Lys125=) n.595A= n.331A= | |
3 | g.46859583_46859584insAG | CA913188107 | MYL3 | c.372_373insCT (p.Lys125LeufsTer?) n.594_595insCT n.330_331insCT | |
3 | g.46859584G>A | CA433474418 | MYL3 | c.372C>T (p.Asn124=) n.594C>T n.330C>T | gnomAD v4 |
3 | g.46859584G>C | CA352496369 | MYL3 | c.372C>G (p.Asn124Lys) n.594C>G n.330C>G | |
3 | g.46859584G>T | CA352496372 | MYL3 | c.372C>A (p.Asn124Lys) n.594C>A n.330C>A | |
3 | g.46859585T>A | CA352496375 | MYL3 | c.371A>T (p.Asn124Ile) n.593A>T n.329A>T | |
3 | g.46859585T>C | CA352496377 | MYL3 | c.371A>G (p.Asn124Ser) n.593A>G n.329A>G | |
3 | g.46859585T>G | CA352496381 | MYL3 | c.371A>C (p.Asn124Thr) n.593A>C n.329A>C | |
3 | g.46859586T>A | CA352496384 | MYL3 | c.370A>T (p.Asn124Tyr) n.592A>T n.328A>T | ClinVar dbSNP gnomAD v4 |
3 | g.46859586T>C | CA352496385 | MYL3 | c.370A>G (p.Asn124Asp) n.592A>G n.328A>G | |
3 | g.46859586T>G | CA352496386 | MYL3 | c.370A>C (p.Asn124His) n.592A>C n.328A>C | |
3 | g.46859586T= | CA1362297138 | MYL3 | c.370A= (p.Asn124=) n.592A= n.328A= | |
3 | g.46859587C>A | CA352496387 | MYL3 | c.369G>T (p.Lys123Asn) n.591G>T n.327G>T | |
3 | g.46859587C>G | CA352496388 | MYL3 | c.369G>C (p.Lys123Asn) n.591G>C n.327G>C | |
3 | g.46859587C>T | CA433474420 | MYL3 | c.369G>A (p.Lys123=) n.591G>A n.327G>A | |
3 | g.46859588T>A | CA352496392 | MYL3 | c.368A>T (p.Lys123Met) n.590A>T n.326A>T | |
3 | g.46859588T>C | CA352496404 | MYL3 | c.368A>G (p.Lys123Arg) n.590A>G n.326A>G | gnomAD v4 |
3 | g.46859588T>G | CA352496394 | MYL3 | c.368A>C (p.Lys123Thr) n.590A>C n.326A>C | |
3 | g.46859589T>A | CA352496406 | MYL3 | c.367A>T (p.Lys123Ter) n.589A>T n.325A>T | |
3 | g.46859589T>C | CA043869 | MYL3 | c.367A>G (p.Lys123Glu) n.589A>G n.325A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.46859589T>G | CA352496412 | MYL3 | c.367A>C (p.Lys123Gln) n.589A>C n.325A>C | |
3 | g.46859589T= | CA1362297139 | MYL3 | c.367A= (p.Lys123=) n.589A= n.325A= | |
3 | g.46859589_46859590insCAGGCCTGGGGGGCAACAGAGTGGTTTCTCCCA | CA2359049 | MYL3 | c.366_367insTGGGAGAAACCACTCTGTTGCCCCCCAGGCCTG (p.Ser122_Lys123insTrpGluLysProLeuCysCysProProGlyLeu) n.588_589insTGGGAGAAACCACTCTGTTGCCCCCCAGGCCTG n.324_325insTGGGAGAAACCACTCTGTTGCCCCCCAGGCCTG | dbSNP ExAC |
3 | g.46859590G>A | CA433474422 | MYL3 | c.366C>T (p.Ser122=) n.588C>T n.324C>T | ClinVar gnomAD v4 |
3 | g.46859590G>C | CA433474424 | MYL3 | c.366C>G (p.Ser122=) n.588C>G n.324C>G | |
3 | g.46859590G>T | CA433474425 | MYL3 | c.366C>A (p.Ser122=) n.588C>A n.324C>A | |
3 | g.46859590_46859591insACAGGCCTGGGGGGCAACA | CA2756108765 | MYL3 | c.365_366insTGTTGCCCCCCAGGCCTGT (p.Lys123ValfsTer15) n.587_588insTGTTGCCCCCCAGGCCTGT n.323_324insTGTTGCCCCCCAGGCCTGT | |
3 | g.46859591G>A | CA352496421 | MYL3 | c.365C>T (p.Ser122Phe) n.587C>T n.323C>T | ClinVar |
3 | g.46859591G>C | CA352496423 | MYL3 | c.365C>G (p.Ser122Cys) n.587C>G n.323C>G | |
3 | g.46859591G>T | CA352496427 | MYL3 | c.365C>A (p.Ser122Tyr) n.587C>A n.323C>A | |
3 | g.46859592A= | CA1362297140 | MYL3 | c.364T= (p.Ser122=) n.586T= n.322T= | |
3 | g.46859592A>C | CA352496432 | MYL3 | c.364T>G (p.Ser122Ala) n.586T>G n.322T>G | |
3 | g.46859592A>G | CA352496434 | MYL3 | c.364T>C (p.Ser122Pro) n.586T>C n.322T>C | |
3 | g.46859592A>T | CA352496445 | MYL3 | c.364T>A (p.Ser122Thr) n.586T>A n.322T>A | |
3 | g.46859592_46859593insTGTCCCTGG | CA043857 | MYL3 | c.363_364insCCAGGGACA (p.Ile121_Ser122insProGlyThr) n.585_586insCCAGGGACA n.321_322insCCAGGGACA | dbSNP ExAC |
3 | g.46859593A= | CA1362297141 | MYL3 | c.363T= (p.Ile121=) n.585T= n.321T= | |
3 | g.46859593A>C | CA352496450 | MYL3 | c.363T>G (p.Ile121Met) n.585T>G n.321T>G | |
3 | g.46859593A>G | CA433474426 | MYL3 | c.363T>C (p.Ile121=) n.585T>C n.321T>C | dbSNP |
3 | g.46859593A>T | CA433474427 | MYL3 | c.363T>A (p.Ile121=) n.585T>A n.321T>A |