Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.47221715T>ACA400022230MYL4c.347T>A (p.Phe116Tyr)
c.58T>A
c.*133T>A (n.*133T>A)
c.440T>A (p.Phe147Tyr)
c.314-17T>A (n.314-17T>A)
c.137T>A (p.Phe46Tyr)
17g.47221715T>CCA400022231MYL4c.347T>C (p.Phe116Ser)
c.58T>C
c.*133T>C (n.*133T>C)
c.440T>C (p.Phe147Ser)
c.314-17T>C (n.314-17T>C)
c.137T>C (p.Phe46Ser)
17g.47221715T>GCA400022232MYL4c.347T>G (p.Phe116Cys)
c.58T>G
c.*133T>G (n.*133T>G)
c.440T>G (p.Phe147Cys)
c.314-17T>G (n.314-17T>G)
c.137T>G (p.Phe46Cys)
17g.47221716C>ACA400022233MYL4c.348C>A (p.Phe116Leu)
c.59C>A
c.*134C>A (n.*134C>A)
c.441C>A (p.Phe147Leu)
c.314-16C>A (n.314-16C>A)
c.138C>A (p.Phe46Leu)
 gnomAD v4
17g.47221716C=CA2262577593MYL4c.348C= (p.Phe116=)
c.59C=
c.*134C= (n.*134C=)
c.441C= (p.Phe147=)
c.314-16C= (n.314-16C=)
c.138C= (p.Phe46=)
17g.47221716C>GCA400022234MYL4c.348C>G (p.Phe116Leu)
c.59C>G
c.*134C>G (n.*134C>G)
c.441C>G (p.Phe147Leu)
c.314-16C>G (n.314-16C>G)
c.138C>G (p.Phe46Leu)
17g.47221716C>TCA8622724MYL4c.348C>T (p.Phe116=)
c.59C>T
c.*134C>T (n.*134C>T)
c.441C>T (p.Phe147=)
c.314-16C>T (n.314-16C>T)
c.138C>T (p.Phe46=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47221717T>ACA400022235MYL4c.349T>A (p.Leu117Met)
c.60T>A
c.*135T>A (n.*135T>A)
c.442T>A (p.Leu148Met)
c.314-15T>A (n.314-15T>A)
c.139T>A (p.Leu47Met)
17g.47221717T>CCA500433860MYL4c.349T>C (p.Leu117=)
c.60T>C
c.*135T>C (n.*135T>C)
c.442T>C (p.Leu148=)
c.314-15T>C (n.314-15T>C)
c.139T>C (p.Leu47=)
17g.47221717T>GCA400022236MYL4c.349T>G (p.Leu117Val)
c.60T>G
c.*135T>G (n.*135T>G)
c.442T>G (p.Leu148Val)
c.314-15T>G (n.314-15T>G)
c.139T>G (p.Leu47Val)
17g.47221718T>ACA400022239MYL4c.350T>A (p.Leu117Ter)
c.61T>A
c.*136T>A (n.*136T>A)
c.443T>A (p.Leu148Ter)
c.314-14T>A (n.314-14T>A)
c.140T>A (p.Leu47Ter)
17g.47221718T>CCA400022238MYL4c.350T>C (p.Leu117Ser)
c.61T>C
c.*136T>C (n.*136T>C)
c.443T>C (p.Leu148Ser)
c.314-14T>C (n.314-14T>C)
c.140T>C (p.Leu47Ser)
17g.47221718T>GCA400022237MYL4c.350T>G (p.Leu117Trp)
c.61T>G
c.*136T>G (n.*136T>G)
c.443T>G (p.Leu148Trp)
c.314-14T>G (n.314-14T>G)
c.140T>G (p.Leu47Trp)
 gnomAD v4
17g.47221719G>ACA291225720MYL4c.351G>A (p.Leu117=)
c.62G>A
c.*137G>A (n.*137G>A)
c.444G>A (p.Leu148=)
c.314-13G>A (n.314-13G>A)
c.141G>A (p.Leu47=)
 ClinVar dbSNP gnomAD v4
17g.47221719G>CCA400022240MYL4c.351G>C (p.Leu117Phe)
c.62G>C
c.*137G>C (n.*137G>C)
c.444G>C (p.Leu148Phe)
c.314-13G>C (n.314-13G>C)
c.141G>C (p.Leu47Phe)
17g.47221719G=CA2262577594MYL4c.351G= (p.Leu117=)
c.62G=
c.*137G= (n.*137G=)
c.444G= (p.Leu148=)
c.314-13G= (n.314-13G=)
c.141G= (p.Leu47=)
17g.47221719G>TCA400022241MYL4c.351G>T (p.Leu117Phe)
c.62G>T
c.*137G>T (n.*137G>T)
c.444G>T (p.Leu148Phe)
c.314-13G>T (n.314-13G>T)
c.141G>T (p.Leu47Phe)
17g.47221720C>ACA400022242MYL4c.352C>A (p.Pro118Thr)
c.63C>A
c.*138C>A (n.*138C>A)
c.445C>A (p.Pro149Thr)
c.314-12C>A (n.314-12C>A)
c.142C>A (p.Pro48Thr)
 gnomAD v4
17g.47221720C=CA2262577595MYL4c.352C= (p.Pro118=)
c.63C=
c.*138C= (n.*138C=)
c.445C= (p.Pro149=)
c.314-12C= (n.314-12C=)
c.142C= (p.Pro48=)
17g.47221720C>GCA400022243MYL4c.352C>G (p.Pro118Ala)
c.63C>G
c.*138C>G (n.*138C>G)
c.445C>G (p.Pro149Ala)
c.314-12C>G (n.314-12C>G)
c.142C>G (p.Pro48Ala)
17g.47221720C>TCA8622725MYL4c.352C>T (p.Pro118Ser)
c.63C>T
c.*138C>T (n.*138C>T)
c.445C>T (p.Pro149Ser)
c.314-12C>T (n.314-12C>T)
c.142C>T (p.Pro48Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47221721C>ACA291225725MYL4c.353C>A (p.Pro118His)
c.64C>A
c.*139C>A (n.*139C>A)
c.446C>A (p.Pro149His)
c.314-11C>A (n.314-11C>A)
c.143C>A (p.Pro48His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.47221721C=CA2262577596MYL4c.353C= (p.Pro118=)
c.64C=
c.*139C= (n.*139C=)
c.446C= (p.Pro149=)
c.314-11C= (n.314-11C=)
c.143C= (p.Pro48=)
17g.47221721C>GCA8622726MYL4c.353C>G (p.Pro118Arg)
c.64C>G
c.*139C>G (n.*139C>G)
c.446C>G (p.Pro149Arg)
c.314-11C>G (n.314-11C>G)
c.143C>G (p.Pro48Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47221721C>TCA400022244MYL4c.353C>T (p.Pro118Leu)
c.64C>T
c.*139C>T (n.*139C>T)
c.446C>T (p.Pro149Leu)
c.314-11C>T (n.314-11C>T)
c.143C>T (p.Pro48Leu)
 dbSNP gnomAD v2 gnomAD v4
17g.47221722C>ACA500433863MYL4c.354C>A (p.Pro118=)
c.65C>A
c.*140C>A (n.*140C>A)
c.447C>A (p.Pro149=)
c.314-10C>A (n.314-10C>A)
c.144C>A (p.Pro48=)
17g.47221722C>GCA500433862MYL4c.354C>G (p.Pro118=)
c.65C>G
c.*140C>G (n.*140C>G)
c.447C>G (p.Pro149=)
c.314-10C>G (n.314-10C>G)
c.144C>G (p.Pro48=)
17g.47221722C>TCA500433861MYL4c.354C>T (p.Pro118=)
c.65C>T
c.*140C>T (n.*140C>T)
c.447C>T (p.Pro149=)
c.314-10C>T (n.314-10C>T)
c.144C>T (p.Pro48=)
17g.47221723A>CCA400022245MYL4c.355A>C (p.Ile119Leu)
c.66A>C
c.*141A>C (n.*141A>C)
c.448A>C (p.Ile150Leu)
c.314-9A>C (n.314-9A>C)
c.145A>C (p.Ile49Leu)
17g.47221723A>GCA400022246MYL4c.355A>G (p.Ile119Val)
c.66A>G
c.*141A>G (n.*141A>G)
c.448A>G (p.Ile150Val)
c.314-9A>G (n.314-9A>G)
c.145A>G (p.Ile49Val)
17g.47221723A>TCA400022247MYL4c.355A>T (p.Ile119Phe)
c.66A>T
c.*141A>T (n.*141A>T)
c.448A>T (p.Ile150Phe)
c.314-9A>T (n.314-9A>T)
c.145A>T (p.Ile49Phe)
17g.47221724T>ACA400022249MYL4c.356T>A (p.Ile119Asn)
c.67T>A
c.*142T>A (n.*142T>A)
c.449T>A (p.Ile150Asn)
c.314-8T>A (n.314-8T>A)
c.146T>A (p.Ile49Asn)
17g.47221724T>CCA400022250MYL4c.356T>C (p.Ile119Thr)
c.67T>C
c.*142T>C (n.*142T>C)
c.449T>C (p.Ile150Thr)
c.314-8T>C (n.314-8T>C)
c.146T>C (p.Ile49Thr)
17g.47221724T>GCA400022248MYL4c.356T>G (p.Ile119Ser)
c.67T>G
c.*142T>G (n.*142T>G)
c.449T>G (p.Ile150Ser)
c.314-8T>G (n.314-8T>G)
c.146T>G (p.Ile49Ser)
17g.47221725C>ACA500433864MYL4c.357C>A (p.Ile119=)
c.68C>A
c.*143C>A (n.*143C>A)
c.450C>A (p.Ile150=)
c.314-7C>A (n.314-7C>A)
c.147C>A (p.Ile49=)
17g.47221725C=CA2262577597MYL4c.357C= (p.Ile119=)
c.68C=
c.*143C= (n.*143C=)
c.450C= (p.Ile150=)
c.314-7C= (n.314-7C=)
c.147C= (p.Ile49=)
17g.47221725C>GCA400022251MYL4c.357C>G (p.Ile119Met)
c.68C>G
c.*143C>G (n.*143C>G)
c.450C>G (p.Ile150Met)
c.314-7C>G (n.314-7C>G)
c.147C>G (p.Ile49Met)
 dbSNP
17g.47221725C>TCA500433865MYL4c.357C>T (p.Ile119=)
c.68C>T
c.*143C>T (n.*143C>T)
c.450C>T (p.Ile150=)
c.314-7C>T (n.314-7C>T)
c.147C>T (p.Ile49=)
 gnomAD v4 COSMIC
17g.47221726C>ACA400022252MYL4c.358C>A (p.Leu120Met)
c.69C>A
c.*144C>A (n.*144C>A)
c.451C>A (p.Leu151Met)
c.314-6C>A (n.314-6C>A)
c.148C>A (p.Leu50Met)
17g.47221726C=CA2262577598MYL4c.358C= (p.Leu120=)
c.69C=
c.*144C= (n.*144C=)
c.451C= (p.Leu151=)
c.314-6C= (n.314-6C=)
c.148C= (p.Leu50=)
17g.47221726C>GCA400022253MYL4c.358C>G (p.Leu120Val)
c.69C>G
c.*144C>G (n.*144C>G)
c.451C>G (p.Leu151Val)
c.314-6C>G (n.314-6C>G)
c.148C>G (p.Leu50Val)
17g.47221726C>TCA500433866MYL4c.358C>T (p.Leu120=)
c.69C>T
c.*144C>T (n.*144C>T)
c.451C>T (p.Leu151=)
c.314-6C>T (n.314-6C>T)
c.148C>T (p.Leu50=)
 dbSNP gnomAD v4
17g.47221727T>ACA400022254MYL4c.359T>A (p.Leu120Gln)
c.70T>A
c.*145T>A (n.*145T>A)
c.452T>A (p.Leu151Gln)
c.314-5T>A (n.314-5T>A)
c.149T>A (p.Leu50Gln)
17g.47221727T>CCA400022255MYL4c.359T>C (p.Leu120Pro)
c.70T>C
c.*145T>C (n.*145T>C)
c.452T>C (p.Leu151Pro)
c.314-5T>C (n.314-5T>C)
c.149T>C (p.Leu50Pro)
 dbSNP
17g.47221727T>GCA400022256MYL4c.359T>G (p.Leu120Arg)
c.70T>G
c.*145T>G (n.*145T>G)
c.452T>G (p.Leu151Arg)
c.314-5T>G (n.314-5T>G)
c.149T>G (p.Leu50Arg)
17g.47221727T=CA2262577599MYL4c.359T= (p.Leu120=)
c.70T=
c.*145T= (n.*145T=)
c.452T= (p.Leu151=)
c.314-5T= (n.314-5T=)
c.149T= (p.Leu50=)
17g.47221728G>ACA500433867MYL4c.360G>A (p.Leu120=)
c.71G>A
c.*146G>A (n.*146G>A)
c.453G>A (p.Leu151=)
c.314-4G>A (n.314-4G>A)
c.150G>A (p.Leu50=)
17g.47221728G>CCA500433868MYL4c.360G>C (p.Leu120=)
c.71G>C
c.*146G>C (n.*146G>C)
c.453G>C (p.Leu151=)
c.314-4G>C (n.314-4G>C)
c.150G>C (p.Leu50=)
17g.47221728G>TCA500433869MYL4c.360G>T (p.Leu120=)
c.71G>T
c.*146G>T (n.*146G>T)
c.453G>T (p.Leu151=)
c.314-4G>T (n.314-4G>T)
c.150G>T (p.Leu50=)
17g.47221728_47221729delCA645573573MYL4c.360_361del (p.Gln121AlafsTer12)
c.71_72del
c.*146_*147del (n.*146_*147del)
c.453_454del (p.Gln152AlafsTer12)
c.314-4_314-3del (n.314-4_314-3del)
c.150_151del (p.Gln51AlafsTer12)
 COSMIC
17g.47221729C>ACA400022257MYL4c.361C>A (p.Gln121Lys)
c.72C>A
c.*147C>A (n.*147C>A)
c.454C>A (p.Gln152Lys)
c.314-3C>A (n.314-3C>A)
c.151C>A (p.Gln51Lys)
17g.47221729C=CA2262577600MYL4c.361C= (p.Gln121=)
c.72C=
c.*147C= (n.*147C=)
c.454C= (p.Gln152=)
c.314-3C= (n.314-3C=)
c.151C= (p.Gln51=)
17g.47221729C>GCA400022258MYL4c.361C>G (p.Gln121Glu)
c.72C>G
c.*147C>G (n.*147C>G)
c.454C>G (p.Gln152Glu)
c.314-3C>G (n.314-3C>G)
c.151C>G (p.Gln51Glu)
17g.47221729C>TCA8622727MYL4c.361C>T (p.Gln121Ter)
c.72C>T
c.*147C>T (n.*147C>T)
c.454C>T (p.Gln152Ter)
c.314-3C>T (n.314-3C>T)
c.151C>T (p.Gln51Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.47221730A>CCA400022259MYL4c.362A>C (p.Gln121Pro)
c.73A>C
c.*148A>C (n.*148A>C)
c.455A>C (p.Gln152Pro)
c.314-2A>C (n.314-2A>C)
c.152A>C (p.Gln51Pro)
17g.47221730A>GCA400022260MYL4c.362A>G (p.Gln121Arg)
c.73A>G
c.*148A>G (n.*148A>G)
c.455A>G (p.Gln152Arg)
c.314-2A>G (n.314-2A>G)
c.152A>G (p.Gln51Arg)
17g.47221730A>TCA400022261MYL4c.362A>T (p.Gln121Leu)
c.73A>T
c.*148A>T (n.*148A>T)
c.455A>T (p.Gln152Leu)
c.314-2A>T (n.314-2A>T)
c.152A>T (p.Gln51Leu)
17g.47221731G>ACA500433870MYL4c.363G>A (p.Gln121=)
c.74G>A
c.*149G>A (n.*149G>A)
c.456G>A (p.Gln152=)
c.314-1G>A (n.314-1G>A)
c.153G>A (p.Gln51=)
17g.47221731G>CCA400022263MYL4c.363G>C (p.Gln121His)
c.74G>C
c.*149G>C (n.*149G>C)
c.456G>C (p.Gln152His)
c.314-1G>C (n.314-1G>C)
c.153G>C (p.Gln51His)
17g.47221731G>TCA400022262MYL4c.363G>T (p.Gln121His)
c.74G>T
c.*149G>T (n.*149G>T)
c.456G>T (p.Gln152His)
c.314-1G>T (n.314-1G>T)
c.153G>T (p.Gln51His)
17g.47221732C>ACA400022264MYL4c.364C>A (p.His122Asn)
c.75C>A
c.*150C>A (n.*150C>A)
c.457C>A (p.His153Asn)
c.314C>A (p.Ala105Glu)
c.154C>A (p.His52Asn)
17g.47221732C=CA2262577601MYL4c.364C= (p.His122=)
c.75C=
c.*150C= (n.*150C=)
c.457C= (p.His153=)
c.314C= (p.Ala105=)
c.154C= (p.His52=)
17g.47221732C>GCA400022265MYL4c.364C>G (p.His122Asp)
c.75C>G
c.*150C>G (n.*150C>G)
c.457C>G (p.His153Asp)
c.314C>G (p.Ala105Gly)
c.154C>G (p.His52Asp)
17g.47221732C>TCA400022266MYL4c.364C>T (p.His122Tyr)
c.75C>T
c.*150C>T (n.*150C>T)
c.457C>T (p.His153Tyr)
c.314C>T (p.Ala105Val)
c.154C>T (p.His52Tyr)
 dbSNP gnomAD v2
17g.47221733A=CA2262577602MYL4c.365A= (p.His122=)
c.76A=
c.*151A= (n.*151A=)
c.458A= (p.His153=)
c.315A= (p.Ala105=)
c.155A= (p.His52=)
17g.47221733A>CCA400022267MYL4c.365A>C (p.His122Pro)
c.76A>C
c.*151A>C (n.*151A>C)
c.458A>C (p.His153Pro)
c.315A>C (p.Ala105=)
c.155A>C (p.His52Pro)
17g.47221733A>GCA8622728MYL4c.365A>G (p.His122Arg)
c.76A>G
c.*151A>G (n.*151A>G)
c.458A>G (p.His153Arg)
c.315A>G (p.Ala105=)
c.155A>G (p.His52Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47221733A>TCA400022268MYL4c.365A>T (p.His122Leu)
c.76A>T
c.*151A>T (n.*151A>T)
c.458A>T (p.His153Leu)
c.315A>T (p.Ala105=)
c.155A>T (p.His52Leu)
17g.47221734C>ACA400022269MYL4c.366C>A (p.His122Gln)
c.77C>A
c.*152C>A (n.*152C>A)
c.459C>A (p.His153Gln)
c.316C>A (p.His106Asn)
c.156C>A (p.His52Gln)
17g.47221734C>GCA400022270MYL4c.366C>G (p.His122Gln)
c.77C>G
c.*152C>G (n.*152C>G)
c.459C>G (p.His153Gln)
c.316C>G (p.His106Asp)
c.156C>G (p.His52Gln)
17g.47221734C>TCA500433871MYL4c.366C>T (p.His122=)
c.77C>T
c.*152C>T (n.*152C>T)
c.459C>T (p.His153=)
c.316C>T (p.His106Tyr)
c.156C>T (p.His52=)
17g.47221735A>CCA400022271MYL4c.367A>C (p.Ile123Leu)
c.78A>C
c.*153A>C (n.*153A>C)
c.460A>C (p.Ile154Leu)
c.317A>C (p.His106Pro)
c.157A>C (p.Ile53Leu)
 gnomAD v4
17g.47221735A>GCA400022272MYL4c.367A>G (p.Ile123Val)
c.78A>G
c.*153A>G (n.*153A>G)
c.460A>G (p.Ile154Val)
c.317A>G (p.His106Arg)
c.157A>G (p.Ile53Val)
17g.47221735A>TCA400022273MYL4c.367A>T (p.Ile123Phe)
c.78A>T
c.*153A>T (n.*153A>T)
c.460A>T (p.Ile154Phe)
c.317A>T (p.His106Leu)
c.157A>T (p.Ile53Phe)
 gnomAD v4
17g.47221736T>ACA400022274MYL4c.368T>A (p.Ile123Asn)
c.79T>A
c.*154T>A (n.*154T>A)
c.461T>A (p.Ile154Asn)
c.318T>A (p.His106Gln)
c.158T>A (p.Ile53Asn)
17g.47221736T>CCA8622729MYL4c.368T>C (p.Ile123Thr)
c.79T>C
c.*154T>C (n.*154T>C)
c.461T>C (p.Ile154Thr)
c.318T>C (p.His106=)
c.158T>C (p.Ile53Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47221736T>GCA400022275MYL4c.368T>G (p.Ile123Ser)
c.79T>G
c.*154T>G (n.*154T>G)
c.461T>G (p.Ile154Ser)
c.318T>G (p.His106Gln)
c.158T>G (p.Ile53Ser)
17g.47221736T=CA2262577603MYL4c.368T= (p.Ile123=)
c.79T=
c.*154T= (n.*154T=)
c.461T= (p.Ile154=)
c.318T= (p.His106=)
c.158T= (p.Ile53=)
17g.47221737T>ACA500433873MYL4c.369T>A (p.Ile123=)
c.80T>A
c.*155T>A (n.*155T>A)
c.462T>A (p.Ile154=)
c.319T>A (p.Phe107Ile)
c.159T>A (p.Ile53=)
17g.47221737T>CCA500433872MYL4c.369T>C (p.Ile123=)
c.80T>C
c.*155T>C (n.*155T>C)
c.462T>C (p.Ile154=)
c.319T>C (p.Phe107Leu)
c.159T>C (p.Ile53=)
 gnomAD v4
17g.47221737T>GCA400022276MYL4c.369T>G (p.Ile123Met)
c.80T>G
c.*155T>G (n.*155T>G)
c.462T>G (p.Ile154Met)
c.319T>G (p.Phe107Val)
c.159T>G (p.Ile53Met)
17g.47221738T>ACA400022277MYL4c.370T>A (p.Ser124Thr)
c.81T>A
c.*156T>A (n.*156T>A)
c.463T>A (p.Ser155Thr)
c.320T>A (p.Phe107Tyr)
c.160T>A (p.Ser54Thr)
17g.47221738T>CCA8622730MYL4c.370T>C (p.Ser124Pro)
c.81T>C
c.*156T>C (n.*156T>C)
c.463T>C (p.Ser155Pro)
c.320T>C (p.Phe107Ser)
c.160T>C (p.Ser54Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.47221738T>GCA400022278MYL4c.370T>G (p.Ser124Ala)
c.81T>G
c.*156T>G (n.*156T>G)
c.463T>G (p.Ser155Ala)
c.320T>G (p.Phe107Cys)
c.160T>G (p.Ser54Ala)
 ClinVar dbSNP gnomAD v4
17g.47221738T=CA2262577604MYL4c.370T= (p.Ser124=)
c.81T=
c.*156T= (n.*156T=)
c.463T= (p.Ser155=)
c.320T= (p.Phe107=)
c.160T= (p.Ser54=)
17g.47221739C>ACA400022279MYL4c.371C>A (p.Ser124Tyr)
c.82C>A
c.*157C>A (n.*157C>A)
c.464C>A (p.Ser155Tyr)
c.321C>A (p.Phe107Leu)
c.161C>A (p.Ser54Tyr)
17g.47221739C=CA2262577605MYL4c.371C= (p.Ser124=)
c.82C=
c.*157C= (n.*157C=)
c.464C= (p.Ser155=)
c.321C= (p.Phe107=)
c.161C= (p.Ser54=)
17g.47221739C>GCA400022280MYL4c.371C>G (p.Ser124Cys)
c.82C>G
c.*157C>G (n.*157C>G)
c.464C>G (p.Ser155Cys)
c.321C>G (p.Phe107Leu)
c.161C>G (p.Ser54Cys)
17g.47221739C>TCA400022281MYL4c.371C>T (p.Ser124Phe)
c.82C>T
c.*157C>T (n.*157C>T)
c.464C>T (p.Ser155Phe)
c.321C>T (p.Phe107=)
c.161C>T (p.Ser54Phe)
 ClinVar dbSNP gnomAD v4
17g.47221740C>ACA500433874MYL4c.372C>A (p.Ser124=)
c.83C>A
c.*158C>A (n.*158C>A)
c.465C>A (p.Ser155=)
c.322C>A (p.Pro108Thr)
c.162C>A (p.Ser54=)
17g.47221740C>GCA500433875MYL4c.372C>G (p.Ser124=)
c.83C>G
c.*158C>G (n.*158C>G)
c.465C>G (p.Ser155=)
c.322C>G (p.Pro108Ala)
c.162C>G (p.Ser54=)
 gnomAD v4
17g.47221740C>TCA500433876MYL4c.372C>T (p.Ser124=)
c.83C>T
c.*158C>T (n.*158C>T)
c.465C>T (p.Ser155=)
c.322C>T (p.Pro108Ser)
c.162C>T (p.Ser54=)
 gnomAD v4
17g.47221741C>ACA400022282MYL4c.373C>A (p.Arg125Ser)
c.84C>A
c.*159C>A (n.*159C>A)
c.466C>A (p.Arg156Ser)
c.323C>A (p.Pro108Gln)
c.163C>A (p.Arg55Ser)
 gnomAD v4
17g.47221741C=CA2262577606MYL4c.373C= (p.Arg125=)
c.84C=
c.*159C= (n.*159C=)
c.466C= (p.Arg156=)
c.323C= (p.Pro108=)
c.163C= (p.Arg55=)
17g.47221741C>GCA400022283MYL4c.373C>G (p.Arg125Gly)
c.84C>G
c.*159C>G (n.*159C>G)
c.466C>G (p.Arg156Gly)
c.323C>G (p.Pro108Arg)
c.163C>G (p.Arg55Gly)
 gnomAD v4
17g.47221741C>TCA8622731MYL4c.373C>T (p.Arg125Cys)
c.84C>T
c.*159C>T (n.*159C>T)
c.466C>T (p.Arg156Cys)
c.323C>T (p.Pro108Leu)
c.163C>T (p.Arg55Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47221742G>ACA8622732MYL4c.374G>A (p.Arg125His)
c.85G>A
c.*160G>A (n.*160G>A)
c.467G>A (p.Arg156His)
c.324G>A (p.Pro108=)
c.164G>A (p.Arg55His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.47221742G>CCA400022284MYL4c.374G>C (p.Arg125Pro)
c.85G>C
c.*160G>C (n.*160G>C)
c.467G>C (p.Arg156Pro)
c.324G>C (p.Pro108=)
c.164G>C (p.Arg55Pro)
17g.47221742G=CA2262577607MYL4c.374G= (p.Arg125=)
c.85G=
c.*160G= (n.*160G=)
c.467G= (p.Arg156=)
c.324G= (p.Pro108=)
c.164G= (p.Arg55=)
17g.47221742G>TCA400022285MYL4c.374G>T (p.Arg125Leu)
c.85G>T
c.*160G>T (n.*160G>T)
c.467G>T (p.Arg156Leu)
c.324G>T (p.Pro108=)
c.164G>T (p.Arg55Leu)
 gnomAD v4
17g.47221743C>ACA500433877MYL4c.375C>A (p.Arg125=)
c.86C>A
c.*161C>A (n.*161C>A)
c.468C>A (p.Arg156=)
c.325C>A (p.Gln109Lys)
c.165C>A (p.Arg55=)
17g.47221743C>GCA500433878MYL4c.375C>G (p.Arg125=)
c.86C>G
c.*161C>G (n.*161C>G)
c.468C>G (p.Arg156=)
c.325C>G (p.Gln109Glu)
c.165C>G (p.Arg55=)
17g.47221743C>TCA500433879MYL4c.375C>T (p.Arg125=)
c.86C>T
c.*161C>T (n.*161C>T)
c.468C>T (p.Arg156=)
c.325C>T (p.Gln109Ter)
c.165C>T (p.Arg55=)
17g.47221744A=CA2262577608MYL4c.376A= (p.Asn126=)
c.87A=
c.*162A= (n.*162A=)
c.469A= (p.Asn157=)
c.326A= (p.Gln109=)
c.166A= (p.Asn56=)
17g.47221744A>CCA400022286MYL4c.376A>C (p.Asn126His)
c.87A>C
c.*162A>C (n.*162A>C)
c.469A>C (p.Asn157His)
c.326A>C (p.Gln109Pro)
c.166A>C (p.Asn56His)
17g.47221744A>GCA291225738MYL4c.376A>G (p.Asn126Asp)
c.87A>G
c.*162A>G (n.*162A>G)
c.469A>G (p.Asn157Asp)
c.326A>G (p.Gln109Arg)
c.166A>G (p.Asn56Asp)
 ClinVar dbSNP gnomAD v4
17g.47221744A>TCA400022287MYL4c.376A>T (p.Asn126Tyr)
c.87A>T
c.*162A>T (n.*162A>T)
c.469A>T (p.Asn157Tyr)
c.326A>T (p.Gln109Leu)
c.166A>T (p.Asn56Tyr)
17g.47221745A>CCA400022290MYL4c.377A>C (p.Asn126Thr)
c.88A>C
c.*163A>C (n.*163A>C)
c.470A>C (p.Asn157Thr)
c.327A>C (p.Gln109His)
c.167A>C (p.Asn56Thr)
17g.47221745A>GCA400022288MYL4c.377A>G (p.Asn126Ser)
c.88A>G
c.*163A>G (n.*163A>G)
c.470A>G (p.Asn157Ser)
c.327A>G (p.Gln109=)
c.167A>G (p.Asn56Ser)
17g.47221745A>TCA400022289MYL4c.377A>T (p.Asn126Ile)
c.88A>T
c.*163A>T (n.*163A>T)
c.470A>T (p.Asn157Ile)
c.327A>T (p.Gln109His)
c.167A>T (p.Asn56Ile)
17g.47221746C>ACA400022291MYL4c.378C>A (p.Asn126Lys)
c.89C>A
c.*164C>A (n.*164C>A)
c.471C>A (p.Asn157Lys)
c.328C>A (p.Gln110Lys)
c.168C>A (p.Asn56Lys)
17g.47221746C>GCA400022292MYL4c.378C>G (p.Asn126Lys)
c.89C>G
c.*164C>G (n.*164C>G)
c.471C>G (p.Asn157Lys)
c.328C>G (p.Gln110Glu)
c.168C>G (p.Asn56Lys)
17g.47221746C>TCA500433881MYL4c.378C>T (p.Asn126=)
c.89C>T
c.*164C>T (n.*164C>T)
c.471C>T (p.Asn157=)
c.328C>T (p.Gln110Ter)
c.168C>T (p.Asn56=)
 gnomAD v4
17g.47221747A>CCA400022293MYL4c.379A>C (p.Lys127Gln)
c.90A>C
c.*165A>C (n.*165A>C)
c.472A>C (p.Lys158Gln)
c.329A>C (p.Gln110Pro)
c.169A>C (p.Lys57Gln)
17g.47221747A>GCA400022294MYL4c.379A>G (p.Lys127Glu)
c.90A>G
c.*165A>G (n.*165A>G)
c.472A>G (p.Lys158Glu)
c.329A>G (p.Gln110Arg)
c.169A>G (p.Lys57Glu)
17g.47221747A>TCA400022295MYL4c.379A>T (p.Lys127Ter)
c.90A>T
c.*165A>T (n.*165A>T)
c.472A>T (p.Lys158Ter)
c.329A>T (p.Gln110Leu)
c.169A>T (p.Lys57Ter)
17g.47221748A>CCA400022296MYL4c.380A>C (p.Lys127Thr)
c.91A>C
c.*166A>C (n.*166A>C)
c.473A>C (p.Lys158Thr)
c.330A>C (p.Gln110His)
c.170A>C (p.Lys57Thr)
17g.47221748A>GCA400022297MYL4c.380A>G (p.Lys127Arg)
c.91A>G
c.*166A>G (n.*166A>G)
c.473A>G (p.Lys158Arg)
c.330A>G (p.Gln110=)
c.170A>G (p.Lys57Arg)
17g.47221748A>TCA400022298MYL4c.380A>T (p.Lys127Met)
c.91A>T
c.*166A>T (n.*166A>T)
c.473A>T (p.Lys158Met)
c.330A>T (p.Gln110His)
c.170A>T (p.Lys57Met)
17g.47221749G>ACA8622733MYL4c.381G>A (p.Lys127=)
c.92G>A
c.*167G>A (n.*167G>A)
c.474G>A (p.Lys158=)
c.331G>A (p.Gly111Arg)
c.171G>A (p.Lys57=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47221749G>CCA400022299MYL4c.381G>C (p.Lys127Asn)
c.92G>C
c.*167G>C (n.*167G>C)
c.474G>C (p.Lys158Asn)
c.331G>C (p.Gly111Arg)
c.171G>C (p.Lys57Asn)
17g.47221749G=CA2262577609MYL4c.381G= (p.Lys127=)
c.92G=
c.*167G= (n.*167G=)
c.474G= (p.Lys158=)
c.331G= (p.Gly111=)
c.171G= (p.Lys57=)
17g.47221749G>TCA400022300MYL4c.381G>T (p.Lys127Asn)
c.92G>T
c.*167G>T (n.*167G>T)
c.474G>T (p.Lys158Asn)
c.331G>T (p.Gly111Ter)
c.171G>T (p.Lys57Asn)
17g.47221750G>ACA400022302MYL4c.382G>A (p.Glu128Lys)
c.93G>A
c.*168G>A (n.*168G>A)
c.475G>A (p.Glu159Lys)
c.332G>A (p.Gly111Glu)
c.172G>A (p.Glu58Lys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.47221750G>CCA400022303MYL4c.382G>C (p.Glu128Gln)
c.93G>C
c.*168G>C (n.*168G>C)
c.475G>C (p.Glu159Gln)
c.332G>C (p.Gly111Ala)
c.172G>C (p.Glu58Gln)
 gnomAD v4
17g.47221750G=CA2262577610MYL4c.382G= (p.Glu128=)
c.93G=
c.*168G= (n.*168G=)
c.475G= (p.Glu159=)
c.332G= (p.Gly111=)
c.172G= (p.Glu58=)
17g.47221750G>TCA400022301MYL4c.382G>T (p.Glu128Ter)
c.93G>T
c.*168G>T (n.*168G>T)
c.475G>T (p.Glu159Ter)
c.332G>T (p.Gly111Val)
c.172G>T (p.Glu58Ter)
17g.47221751A>CCA400022304MYL4c.383A>C (p.Glu128Ala)
c.94A>C
c.*169A>C (n.*169A>C)
c.476A>C (p.Glu159Ala)
c.333A>C (p.Gly111=)
c.173A>C (p.Glu58Ala)
17g.47221751A>GCA400022305MYL4c.383A>G (p.Glu128Gly)
c.94A>G
c.*169A>G (n.*169A>G)
c.476A>G (p.Glu159Gly)
c.333A>G (p.Gly111=)
c.173A>G (p.Glu58Gly)
17g.47221751A>TCA400022306MYL4c.383A>T (p.Glu128Val)
c.94A>T
c.*169A>T (n.*169A>T)
c.476A>T (p.Glu159Val)
c.333A>T (p.Gly111=)
c.173A>T (p.Glu58Val)
17g.47221752G>ACA500433883MYL4c.384G>A (p.Glu128=)
c.95G>A
c.*170G>A (n.*170G>A)
c.477G>A (p.Glu159=)
c.334G>A (p.Ala112Thr)
c.174G>A (p.Glu58=)
17g.47221752G>CCA400022307MYL4c.384G>C (p.Glu128Asp)
c.95G>C
c.*170G>C (n.*170G>C)
c.477G>C (p.Glu159Asp)
c.334G>C (p.Ala112Pro)
c.174G>C (p.Glu58Asp)
17g.47221752G>TCA400022308MYL4c.384G>T (p.Glu128Asp)
c.95G>T
c.*170G>T (n.*170G>T)
c.477G>T (p.Glu159Asp)
c.334G>T (p.Ala112Ser)
c.174G>T (p.Glu58Asp)
 dbSNP
17g.47221753C>ACA400022309MYL4c.385C>A (p.Gln129Lys)
c.96C>A
c.*171C>A (n.*171C>A)
c.478C>A (p.Gln160Lys)
c.335C>A (p.Ala112Glu)
c.175C>A (p.Gln59Lys)
17g.47221753C>GCA400022310MYL4c.385C>G (p.Gln129Glu)
c.96C>G
c.*171C>G (n.*171C>G)
c.478C>G (p.Gln160Glu)
c.335C>G (p.Ala112Gly)
c.175C>G (p.Gln59Glu)
17g.47221753C>TCA400022311MYL4c.385C>T (p.Gln129Ter)
c.96C>T
c.*171C>T (n.*171C>T)
c.478C>T (p.Gln160Ter)
c.335C>T (p.Ala112Val)
c.175C>T (p.Gln59Ter)
17g.47221754A=CA2262577611MYL4c.386A= (p.Gln129=)
c.97A=
c.*172A= (n.*172A=)
c.479A= (p.Gln160=)
c.336A= (p.Ala112=)
c.176A= (p.Gln59=)
17g.47221754A>CCA400022312MYL4c.386A>C (p.Gln129Pro)
c.97A>C
c.*172A>C (n.*172A>C)
c.479A>C (p.Gln160Pro)
c.336A>C (p.Ala112=)
c.176A>C (p.Gln59Pro)
17g.47221754A>GCA400022313MYL4c.386A>G (p.Gln129Arg)
c.97A>G
c.*172A>G (n.*172A>G)
c.479A>G (p.Gln160Arg)
c.336A>G (p.Ala112=)
c.176A>G (p.Gln59Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.47221754A>TCA400022314MYL4c.386A>T (p.Gln129Leu)
c.97A>T
c.*172A>T (n.*172A>T)
c.479A>T (p.Gln160Leu)
c.336A>T (p.Ala112=)
c.176A>T (p.Gln59Leu)
17g.47221755G>ACA500433888MYL4c.387G>A (p.Gln129=)
c.98G>A
c.*173G>A (n.*173G>A)
c.480G>A (p.Gln160=)
c.337G>A (p.Gly113Arg)
c.177G>A (p.Gln59=)
 COSMIC
17g.47221755G>CCA400022315MYL4c.387G>C (p.Gln129His)
c.98G>C
c.*173G>C (n.*173G>C)
c.480G>C (p.Gln160His)
c.337G>C (p.Gly113Arg)
c.177G>C (p.Gln59His)
17g.47221755G>TCA400022316MYL4c.387G>T (p.Gln129His)
c.98G>T
c.*173G>T (n.*173G>T)
c.480G>T (p.Gln160His)
c.337G>T (p.Gly113Trp)
c.177G>T (p.Gln59His)
17g.47221756G>ACA400022319MYL4c.388G>A (p.Gly130Ser)
c.99G>A
c.*174G>A (n.*174G>A)
c.481G>A (p.Gly161Ser)
c.338G>A (p.Gly113Glu)
c.178G>A (p.Gly60Ser)
 gnomAD v4
17g.47221756G>CCA400022318MYL4c.388G>C (p.Gly130Arg)
c.99G>C
c.*174G>C (n.*174G>C)
c.481G>C (p.Gly161Arg)
c.338G>C (p.Gly113Ala)
c.178G>C (p.Gly60Arg)
17g.47221756G>TCA400022317MYL4c.388G>T (p.Gly130Cys)
c.99G>T
c.*174G>T (n.*174G>T)
c.481G>T (p.Gly161Cys)
c.338G>T (p.Gly113Val)
c.178G>T (p.Gly60Cys)
17g.47221757G>ACA400022320MYL4c.389G>A (p.Gly130Asp)
c.100G>A
c.*175G>A (n.*175G>A)
c.482G>A (p.Gly161Asp)
c.339G>A (p.Gly113=)
c.179G>A (p.Gly60Asp)
17g.47221757G>CCA400022321MYL4c.389G>C (p.Gly130Ala)
c.100G>C
c.*175G>C (n.*175G>C)
c.482G>C (p.Gly161Ala)
c.339G>C (p.Gly113=)
c.179G>C (p.Gly60Ala)
17g.47221757G>TCA400022322MYL4c.389G>T (p.Gly130Val)
c.100G>T
c.*175G>T (n.*175G>T)
c.482G>T (p.Gly161Val)
c.339G>T (p.Gly113=)
c.179G>T (p.Gly60Val)
17g.47221758C>ACA500433893MYL4c.390C>A (p.Gly130=)
c.101C>A
c.*176C>A (n.*176C>A)
c.483C>A (p.Gly161=)
c.340C>A (p.His114Asn)
c.180C>A (p.Gly60=)
17g.47221758C>GCA500433894MYL4c.390C>G (p.Gly130=)
c.101C>G
c.*176C>G (n.*176C>G)
c.483C>G (p.Gly161=)
c.340C>G (p.His114Asp)
c.180C>G (p.Gly60=)
17g.47221758C>TCA500433892MYL4c.390C>T (p.Gly130=)
c.101C>T
c.*176C>T (n.*176C>T)
c.483C>T (p.Gly161=)
c.340C>T (p.His114Tyr)
c.180C>T (p.Gly60=)
17g.47221759A>CCA400022323MYL4c.391A>C (p.Thr131Pro)
c.102A>C
c.*177A>C (n.*177A>C)
c.484A>C (p.Thr162Pro)
c.341A>C (p.His114Pro)
c.181A>C (p.Thr61Pro)
17g.47221759A>GCA400022324MYL4c.391A>G (p.Thr131Ala)
c.102A>G
c.*177A>G (n.*177A>G)
c.484A>G (p.Thr162Ala)
c.341A>G (p.His114Arg)
c.181A>G (p.Thr61Ala)
 gnomAD v4
17g.47221759A>TCA400022325MYL4c.391A>T (p.Thr131Ser)
c.102A>T
c.*177A>T (n.*177A>T)
c.484A>T (p.Thr162Ser)
c.341A>T (p.His114Leu)
c.181A>T (p.Thr61Ser)
17g.47221760C>ACA400022326MYL4c.392C>A (p.Thr131Asn)
c.103C>A
c.*178C>A (n.*178C>A)
c.485C>A (p.Thr162Asn)
c.342C>A (p.His114Gln)
c.182C>A (p.Thr61Asn)
 gnomAD v4
17g.47221760C>GCA400022327MYL4c.392C>G (p.Thr131Ser)
c.103C>G
c.*178C>G (n.*178C>G)
c.485C>G (p.Thr162Ser)
c.342C>G (p.His114Gln)
c.182C>G (p.Thr61Ser)
 gnomAD v4
17g.47221760C>TCA400022328MYL4c.392C>T (p.Thr131Ile)
c.103C>T
c.*178C>T (n.*178C>T)
c.485C>T (p.Thr162Ile)
c.342C>T (p.His114=)
c.182C>T (p.Thr61Ile)
 ClinVar dbSNP gnomAD v4
17g.47221761C>ACA500433899MYL4c.393C>A (p.Thr131=)
c.104C>A
c.*179C>A (n.*179C>A)
c.486C>A (p.Thr162=)
c.343C>A (p.Leu115Ile)
c.183C>A (p.Thr61=)
 dbSNP gnomAD v4
17g.47221761C=CA2262577612MYL4c.393C= (p.Thr131=)
c.104C=
c.*179C= (n.*179C=)
c.486C= (p.Thr162=)
c.343C= (p.Leu115=)
c.183C= (p.Thr61=)
17g.47221761C>GCA500433896MYL4c.393C>G (p.Thr131=)
c.104C>G
c.*179C>G (n.*179C>G)
c.486C>G (p.Thr162=)
c.343C>G (p.Leu115Val)
c.183C>G (p.Thr61=)
17g.47221761C>TCA500433897MYL4c.393C>T (p.Thr131=)
c.104C>T
c.*179C>T (n.*179C>T)
c.486C>T (p.Thr162=)
c.343C>T (p.Leu115=)
c.183C>T (p.Thr61=)
 gnomAD v4
17g.47221762T>ACA400022329MYL4c.394T>A (p.Tyr132Asn)
c.105T>A
c.*180T>A (n.*180T>A)
c.487T>A (p.Tyr163Asn)
c.344T>A (p.Leu115Gln)
c.184T>A (p.Tyr62Asn)
 gnomAD v4
17g.47221762T>CCA400022332MYL4c.394T>C (p.Tyr132His)
c.105T>C
c.*180T>C (n.*180T>C)
c.487T>C (p.Tyr163His)
c.344T>C (p.Leu115Pro)
c.184T>C (p.Tyr62His)
17g.47221762T>GCA400022334MYL4c.394T>G (p.Tyr132Asp)
c.105T>G
c.*180T>G (n.*180T>G)
c.487T>G (p.Tyr163Asp)
c.344T>G (p.Leu115Arg)
c.184T>G (p.Tyr62Asp)
17g.47221763A=CA2262577613MYL4c.395A= (p.Tyr132=)
c.106A=
c.*181A= (n.*181A=)
c.488A= (p.Tyr163=)
c.345A= (p.Leu115=)
c.185A= (p.Tyr62=)
17g.47221763A>CCA400022339MYL4c.395A>C (p.Tyr132Ser)
c.106A>C
c.*181A>C (n.*181A>C)
c.488A>C (p.Tyr163Ser)
c.345A>C (p.Leu115=)
c.185A>C (p.Tyr62Ser)
17g.47221763A>GCA400022337MYL4c.395A>G (p.Tyr132Cys)
c.106A>G
c.*181A>G (n.*181A>G)
c.488A>G (p.Tyr163Cys)
c.345A>G (p.Leu115=)
c.185A>G (p.Tyr62Cys)
17g.47221763A>TCA8622734MYL4c.395A>T (p.Tyr132Phe)
c.106A>T
c.*181A>T (n.*181A>T)
c.488A>T (p.Tyr163Phe)
c.345A>T (p.Leu115=)
c.185A>T (p.Tyr62Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.47221764T>ACA400022341MYL4c.396T>A (p.Tyr132Ter)
c.107T>A
c.*182T>A (n.*182T>A)
c.489T>A (p.Tyr163Ter)
c.346T>A (p.Ter116Arg)
c.186T>A (p.Tyr62Ter)
17g.47221764T>CCA8622735MYL4c.396T>C (p.Tyr132=)
c.107T>C
c.*182T>C (n.*182T>C)
c.489T>C (p.Tyr163=)
c.346T>C (p.Ter116Arg)
c.186T>C (p.Tyr62=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.47221764T>GCA400022343MYL4c.396T>G (p.Tyr132Ter)
c.107T>G
c.*182T>G (n.*182T>G)
c.489T>G (p.Tyr163Ter)
c.346T>G (p.Ter116Gly)
c.186T>G (p.Tyr62Ter)
17g.47221764T=CA2262577614MYL4c.396T= (p.Tyr132=)
c.107T=
c.*182T= (n.*182T=)
c.489T= (p.Tyr163=)
c.346T= (p.Ter116=)
c.186T= (p.Tyr62=)
17g.47221765G>ACA400022347MYL4c.397G>A (p.Glu133Lys)
c.108G>A
c.*183G>A (n.*183G>A)
c.490G>A (p.Glu164Lys)
c.347G>A (p.Ter116=)
c.187G>A (p.Glu63Lys)
17g.47221765G>CCA400022349MYL4c.397G>C (p.Glu133Gln)
c.108G>C
c.*183G>C (n.*183G>C)
c.490G>C (p.Glu164Gln)
c.347G>C (p.Ter116Ser)
c.187G>C (p.Glu63Gln)
17g.47221765G>TCA400022350MYL4c.397G>T (p.Glu133Ter)
c.108G>T
c.*183G>T (n.*183G>T)
c.490G>T (p.Glu164Ter)
c.347G>T (p.Ter116Leu)
c.187G>T (p.Glu63Ter)
17g.47221766A>CCA400022354MYL4c.398A>C (p.Glu133Ala)
c.109A>C
c.*184A>C (n.*184A>C)
c.491A>C (p.Glu164Ala)
c.348A>C (p.Ter116Cys)
c.188A>C (p.Glu63Ala)
17g.47221766A>GCA400022356MYL4c.398A>G (p.Glu133Gly)
c.109A>G
c.*184A>G (n.*184A>G)
c.491A>G (p.Glu164Gly)
c.348A>G (p.Ter116Trp)
c.188A>G (p.Glu63Gly)
17g.47221766A>TCA400022357MYL4c.398A>T (p.Glu133Val)
c.109A>T
c.*184A>T (n.*184A>T)
c.491A>T (p.Glu164Val)
c.348A>T (p.Ter116Cys)
c.188A>T (p.Glu63Val)
17g.47221767G>ACA500433905MYL4c.399G>A (p.Glu133=)
c.110G>A
c.*185G>A (n.*185G>A)
c.492G>A (p.Glu164=)
c.*1G>A (n.*1G>A)
c.189G>A (p.Glu63=)
 gnomAD v4
17g.47221767G>CCA400022359MYL4c.399G>C (p.Glu133Asp)
c.110G>C
c.*185G>C (n.*185G>C)
c.492G>C (p.Glu164Asp)
c.*1G>C (n.*1G>C)
c.189G>C (p.Glu63Asp)
17g.47221767G>TCA400022361MYL4c.399G>T (p.Glu133Asp)
c.110G>T
c.*185G>T (n.*185G>T)
c.492G>T (p.Glu164Asp)
c.*1G>T (n.*1G>T)
c.189G>T (p.Glu63Asp)
17g.47221768G>ACA400022363MYL4c.400G>A (p.Asp134Asn)
c.111G>A
c.*186G>A (n.*186G>A)
c.493G>A (p.Asp165Asn)
c.*2G>A (n.*2G>A)
c.190G>A (p.Asp64Asn)
17g.47221768G>CCA400022365MYL4c.400G>C (p.Asp134His)
c.111G>C
c.*186G>C (n.*186G>C)
c.493G>C (p.Asp165His)
c.*2G>C (n.*2G>C)
c.190G>C (p.Asp64His)
17g.47221768G>TCA400022367MYL4c.400G>T (p.Asp134Tyr)
c.111G>T
c.*186G>T (n.*186G>T)
c.493G>T (p.Asp165Tyr)
c.*2G>T (n.*2G>T)
c.190G>T (p.Asp64Tyr)
17g.47221769A>CCA400022369MYL4c.401A>C (p.Asp134Ala)
c.112A>C
c.*187A>C (n.*187A>C)
c.494A>C (p.Asp165Ala)
c.*3A>C (n.*3A>C)
c.191A>C (p.Asp64Ala)
17g.47221769A>GCA400022371MYL4c.401A>G (p.Asp134Gly)
c.112A>G
c.*187A>G (n.*187A>G)
c.494A>G (p.Asp165Gly)
c.*3A>G (n.*3A>G)
c.191A>G (p.Asp64Gly)
17g.47221769A>TCA400022373MYL4c.401A>T (p.Asp134Val)
c.112A>T
c.*187A>T (n.*187A>T)
c.494A>T (p.Asp165Val)
c.*3A>T (n.*3A>T)
c.191A>T (p.Asp64Val)
17g.47221770C>ACA400022376MYL4c.402C>A (p.Asp134Glu)
c.113C>A
c.*188C>A (n.*188C>A)
c.495C>A (p.Asp165Glu)
c.*4C>A (n.*4C>A)
c.192C>A (p.Asp64Glu)
17g.47221770C=CA2262577615MYL4c.402C= (p.Asp134=)
c.113C=
c.*188C= (n.*188C=)
c.495C= (p.Asp165=)
c.*4C= (n.*4C=)
c.192C= (p.Asp64=)
17g.47221770C>GCA400022377MYL4c.402C>G (p.Asp134Glu)
c.113C>G
c.*188C>G (n.*188C>G)
c.495C>G (p.Asp165Glu)
c.*4C>G (n.*4C>G)
c.192C>G (p.Asp64Glu)
17g.47221770C>TCA500433909MYL4c.402C>T (p.Asp134=)
c.113C>T
c.*188C>T (n.*188C>T)
c.495C>T (p.Asp165=)
c.*4C>T (n.*4C>T)
c.192C>T (p.Asp64=)
 dbSNP gnomAD v2 gnomAD v4
17g.47221771T>ACA400022380MYL4c.403T>A (p.Phe135Ile)
c.114T>A
c.*189T>A (n.*189T>A)
c.496T>A (p.Phe166Ile)
c.*5T>A (n.*5T>A)
c.193T>A (p.Phe65Ile)
 dbSNP gnomAD v2 gnomAD v4
17g.47221771T>CCA400022382MYL4c.403T>C (p.Phe135Leu)
c.114T>C
c.*189T>C (n.*189T>C)
c.496T>C (p.Phe166Leu)
c.*5T>C (n.*5T>C)
c.193T>C (p.Phe65Leu)
17g.47221771T>GCA400022384MYL4c.403T>G (p.Phe135Val)
c.114T>G
c.*189T>G (n.*189T>G)
c.496T>G (p.Phe166Val)
c.*5T>G (n.*5T>G)
c.193T>G (p.Phe65Val)
17g.47221771T=CA2262577616MYL4c.403T= (p.Phe135=)
c.114T=
c.*189T= (n.*189T=)
c.496T= (p.Phe166=)
c.*5T= (n.*5T=)
c.193T= (p.Phe65=)
17g.47221772T>ACA400022386MYL4c.404T>A (p.Phe135Tyr)
c.115T>A
c.*190T>A (n.*190T>A)
c.497T>A (p.Phe166Tyr)
c.*6T>A (n.*6T>A)
c.194T>A (p.Phe65Tyr)
17g.47221772T>CCA400022388MYL4c.404T>C (p.Phe135Ser)
c.115T>C
c.*190T>C (n.*190T>C)
c.497T>C (p.Phe166Ser)
c.*6T>C (n.*6T>C)
c.194T>C (p.Phe65Ser)
17g.47221772T>GCA400022391MYL4c.404T>G (p.Phe135Cys)
c.115T>G
c.*190T>G (n.*190T>G)
c.497T>G (p.Phe166Cys)
c.*6T>G (n.*6T>G)
c.194T>G (p.Phe65Cys)
17g.47221773C>ACA291225741MYL4c.405C>A (p.Phe135Leu)
c.116C>A
c.*191C>A (n.*191C>A)
c.498C>A (p.Phe166Leu)
c.*7C>A (n.*7C>A)
c.195C>A (p.Phe65Leu)
 dbSNP
17g.47221773C=CA2262577617MYL4c.405C= (p.Phe135=)
c.116C=
c.*191C= (n.*191C=)
c.498C= (p.Phe166=)
c.*7C= (n.*7C=)
c.195C= (p.Phe65=)
17g.47221773C>GCA400022394MYL4c.405C>G (p.Phe135Leu)
c.116C>G
c.*191C>G (n.*191C>G)
c.498C>G (p.Phe166Leu)
c.*7C>G (n.*7C>G)
c.195C>G (p.Phe65Leu)
17g.47221773C>TCA8622736MYL4c.405C>T (p.Phe135=)
c.116C>T
c.*191C>T (n.*191C>T)
c.498C>T (p.Phe166=)
c.*7C>T (n.*7C>T)
c.195C>T (p.Phe65=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47221774G>ACA8622737MYL4c.406G>A (p.Val136Met)
c.117G>A
c.*192G>A (n.*192G>A)
c.499G>A (p.Val167Met)
c.*8G>A (n.*8G>A)
c.196G>A (p.Val66Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.47221774G>CCA400022398MYL4c.406G>C (p.Val136Leu)
c.117G>C
c.*192G>C (n.*192G>C)
c.499G>C (p.Val167Leu)
c.*8G>C (n.*8G>C)
c.196G>C (p.Val66Leu)
 dbSNP
17g.47221774G=CA2262577618MYL4c.406G= (p.Val136=)
c.117G=
c.*192G= (n.*192G=)
c.499G= (p.Val167=)
c.*8G= (n.*8G=)
c.196G= (p.Val66=)
17g.47221774G>TCA400022400MYL4c.406G>T (p.Val136Leu)
c.117G>T
c.*192G>T (n.*192G>T)
c.499G>T (p.Val167Leu)
c.*8G>T (n.*8G>T)
c.196G>T (p.Val66Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.47221775T>ACA400022403MYL4c.407T>A (p.Val136Glu)
c.118T>A
c.*193T>A (n.*193T>A)
c.500T>A (p.Val167Glu)
c.*9T>A (n.*9T>A)
c.197T>A (p.Val66Glu)
17g.47221775T>CCA400022406MYL4c.407T>C (p.Val136Ala)
c.118T>C
c.*193T>C (n.*193T>C)
c.500T>C (p.Val167Ala)
c.*9T>C (n.*9T>C)
c.197T>C (p.Val66Ala)
 gnomAD v4
17g.47221775T>GCA400022405MYL4c.407T>G (p.Val136Gly)
c.118T>G
c.*193T>G (n.*193T>G)
c.500T>G (p.Val167Gly)
c.*9T>G (n.*9T>G)
c.197T>G (p.Val66Gly)
17g.47221776G>ACA500433922MYL4c.408G>A (p.Val136=)
c.119G>A
c.*194G>A (n.*194G>A)
c.501G>A (p.Val167=)
c.*10G>A (n.*10G>A)
c.198G>A (p.Val66=)
17g.47221776G>CCA500433923MYL4c.408G>C (p.Val136=)
c.119G>C
c.*194G>C (n.*194G>C)
c.501G>C (p.Val167=)
c.*10G>C (n.*10G>C)
c.198G>C (p.Val66=)
17g.47221776G>TCA500433924MYL4c.408G>T (p.Val136=)
c.119G>T
c.*194G>T (n.*194G>T)
c.501G>T (p.Val167=)
c.*10G>T (n.*10G>T)
c.198G>T (p.Val66=)
17g.47221777G>ACA400022409MYL4c.409G>A (p.Glu137Lys)
c.120G>A
c.*195G>A (n.*195G>A)
c.502G>A (p.Glu168Lys)
c.*11G>A (n.*11G>A)
c.199G>A (p.Glu67Lys)
17g.47221777G>CCA400022411MYL4c.409G>C (p.Glu137Gln)
c.120G>C
c.*195G>C (n.*195G>C)
c.502G>C (p.Glu168Gln)
c.*11G>C (n.*11G>C)
c.199G>C (p.Glu67Gln)
17g.47221777G>TCA400022413MYL4c.409G>T (p.Glu137Ter)
c.120G>T
c.*195G>T (n.*195G>T)
c.502G>T (p.Glu168Ter)
c.*11G>T (n.*11G>T)
c.199G>T (p.Glu67Ter)
17g.47221778A>CCA400022415MYL4c.410A>C (p.Glu137Ala)
c.121A>C
c.*196A>C (n.*196A>C)
c.503A>C (p.Glu168Ala)
c.*12A>C (n.*12A>C)
c.200A>C (p.Glu67Ala)
17g.47221778A>GCA400022418MYL4c.410A>G (p.Glu137Gly)
c.121A>G
c.*196A>G (n.*196A>G)
c.503A>G (p.Glu168Gly)
c.*12A>G (n.*12A>G)
c.200A>G (p.Glu67Gly)
17g.47221778A>TCA400022420MYL4c.410A>T (p.Glu137Val)
c.121A>T
c.*196A>T (n.*196A>T)
c.503A>T (p.Glu168Val)
c.*12A>T (n.*12A>T)
c.200A>T (p.Glu67Val)
17g.47221779G>ACA500433930MYL4c.411G>A (p.Glu137=)
c.122G>A
c.*197G>A (n.*197G>A)
c.504G>A (p.Glu168=)
c.*13G>A (n.*13G>A)
c.201G>A (p.Glu67=)
17g.47221779G>CCA400022422MYL4c.411G>C (p.Glu137Asp)
c.122G>C
c.*197G>C (n.*197G>C)
c.504G>C (p.Glu168Asp)
c.*13G>C (n.*13G>C)
c.201G>C (p.Glu67Asp)
17g.47221779G>TCA400022424MYL4c.411G>T (p.Glu137Asp)
c.122G>T
c.*197G>T (n.*197G>T)
c.504G>T (p.Glu168Asp)
c.*13G>T (n.*13G>T)
c.201G>T (p.Glu67Asp)
17g.47221780G>ACA400022426MYL4c.412G>A (p.Gly138Ser)
c.123G>A
c.*198G>A (n.*198G>A)
c.505G>A (p.Gly169Ser)
c.*14G>A (n.*14G>A)
c.202G>A (p.Gly68Ser)
17g.47221780G>CCA400022428MYL4c.412G>C (p.Gly138Arg)
c.123G>C
c.*198G>C (n.*198G>C)
c.505G>C (p.Gly169Arg)
c.*14G>C (n.*14G>C)
c.202G>C (p.Gly68Arg)
17g.47221780G>TCA400022430MYL4c.412G>T (p.Gly138Cys)
c.123G>T
c.*198G>T (n.*198G>T)
c.505G>T (p.Gly169Cys)
c.*14G>T (n.*14G>T)
c.202G>T (p.Gly68Cys)
17g.47221781G>ACA400022436MYL4c.413G>A (p.Gly138Asp)
c.124G>A
c.*199G>A (n.*199G>A)
c.506G>A (p.Gly169Asp)
c.*15G>A (n.*15G>A)
c.203G>A (p.Gly68Asp)
 gnomAD v4
17g.47221781G>CCA400022435MYL4c.413G>C (p.Gly138Ala)
c.124G>C
c.*199G>C (n.*199G>C)
c.506G>C (p.Gly169Ala)
c.*15G>C (n.*15G>C)
c.203G>C (p.Gly68Ala)
17g.47221781G>TCA400022433MYL4c.413G>T (p.Gly138Val)
c.124G>T
c.*199G>T (n.*199G>T)
c.506G>T (p.Gly169Val)
c.*15G>T (n.*15G>T)
c.203G>T (p.Gly68Val)
17g.47221782C>ACA500433943MYL4c.414C>A (p.Gly138=)
c.125C>A
c.*200C>A (n.*200C>A)
c.507C>A (p.Gly169=)
c.*16C>A (n.*16C>A)
c.204C>A (p.Gly68=)
17g.47221782C=CA2262577619MYL4c.414C= (p.Gly138=)
c.125C=
c.*200C= (n.*200C=)
c.507C= (p.Gly169=)
c.*16C= (n.*16C=)
c.204C= (p.Gly68=)
17g.47221782C>GCA500433941MYL4c.414C>G (p.Gly138=)
c.125C>G
c.*200C>G (n.*200C>G)
c.507C>G (p.Gly169=)
c.*16C>G (n.*16C>G)
c.204C>G (p.Gly68=)
17g.47221782C>TCA291225744MYL4c.414C>T (p.Gly138=)
c.125C>T
c.*200C>T (n.*200C>T)
c.507C>T (p.Gly169=)
c.*16C>T (n.*16C>T)
c.204C>T (p.Gly68=)
 dbSNP gnomAD v4 COSMIC
17g.47221783C>ACA400022438MYL4c.415C>A (p.Leu139Met)
c.126C>A
c.*201C>A (n.*201C>A)
c.508C>A (p.Leu170Met)
c.*17C>A (n.*17C>A)
c.205C>A (p.Leu69Met)
17g.47221783C=CA2262577620MYL4c.415C= (p.Leu139=)
c.126C=
c.*201C= (n.*201C=)
c.508C= (p.Leu170=)
c.*17C= (n.*17C=)
c.205C= (p.Leu69=)
17g.47221783C>GCA400022440MYL4c.415C>G (p.Leu139Val)
c.126C>G
c.*201C>G (n.*201C>G)
c.508C>G (p.Leu170Val)
c.*17C>G (n.*17C>G)
c.205C>G (p.Leu69Val)
17g.47221783C>TCA500433944MYL4c.415C>T (p.Leu139=)
c.126C>T
c.*201C>T (n.*201C>T)
c.508C>T (p.Leu170=)
c.*17C>T (n.*17C>T)
c.205C>T (p.Leu69=)
 dbSNP
17g.47221784T>ACA400022442MYL4c.416T>A (p.Leu139Gln)
c.127T>A
c.*202T>A (n.*202T>A)
c.509T>A (p.Leu170Gln)
c.*18T>A (n.*18T>A)
c.206T>A (p.Leu69Gln)
17g.47221784T>CCA400022444MYL4c.416T>C (p.Leu139Pro)
c.127T>C
c.*202T>C (n.*202T>C)
c.509T>C (p.Leu170Pro)
c.*18T>C (n.*18T>C)
c.206T>C (p.Leu69Pro)
 dbSNP
17g.47221784T>GCA400022446MYL4c.416T>G (p.Leu139Arg)
c.127T>G
c.*202T>G (n.*202T>G)
c.509T>G (p.Leu170Arg)
c.*18T>G (n.*18T>G)
c.206T>G (p.Leu69Arg)
17g.47221784T=CA2262577621MYL4c.416T= (p.Leu139=)
c.127T=
c.*202T= (n.*202T=)
c.509T= (p.Leu170=)
c.*18T= (n.*18T=)
c.206T= (p.Leu69=)
17g.47221785G>ACA500433952MYL4c.417G>A (p.Leu139=)
c.128G>A
c.*203G>A (n.*203G>A)
c.510G>A (p.Leu170=)
c.*19G>A (n.*19G>A)
c.207G>A (p.Leu69=)
17g.47221785G>CCA500433951MYL4c.417G>C (p.Leu139=)
c.128G>C
c.*203G>C (n.*203G>C)
c.510G>C (p.Leu170=)
c.*19G>C (n.*19G>C)
c.207G>C (p.Leu69=)
17g.47221785G>TCA500433953MYL4c.417G>T (p.Leu139=)
c.128G>T
c.*203G>T (n.*203G>T)
c.510G>T (p.Leu170=)
c.*19G>T (n.*19G>T)
c.207G>T (p.Leu69=)
17g.47221785_47221787dupCA2638433047MYL4c.417_419dup (p.Arg140_Val141insArg)
c.128_130dup
c.*203_*205dup (n.*203_*205dup)
c.510_512dup (p.Arg171_Val172insArg)
c.*19_*21dup (n.*19_*21dup)
c.207_209dup (p.Arg70_Val71insArg)
 gnomAD v4
17g.47221786C>ACA400022449MYL4c.418C>A (p.Arg140Ser)
c.129C>A
c.*204C>A (n.*204C>A)
c.511C>A (p.Arg171Ser)
c.*20C>A (n.*20C>A)
c.208C>A (p.Arg70Ser)
17g.47221786C=CA2262577622MYL4c.418C= (p.Arg140=)
c.129C=
c.*204C= (n.*204C=)
c.511C= (p.Arg171=)
c.*20C= (n.*20C=)
c.208C= (p.Arg70=)
17g.47221786C>GCA400022451MYL4c.418C>G (p.Arg140Gly)
c.129C>G
c.*204C>G (n.*204C>G)
c.511C>G (p.Arg171Gly)
c.*20C>G (n.*20C>G)
c.208C>G (p.Arg70Gly)
 dbSNP
17g.47221786C>TCA8622738MYL4c.418C>T (p.Arg140Cys)
c.129C>T
c.*204C>T (n.*204C>T)
c.511C>T (p.Arg171Cys)
c.*20C>T (n.*20C>T)
c.208C>T (p.Arg70Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47221787G>ACA8622739MYL4c.419G>A (p.Arg140His)
c.130G>A
c.*205G>A (n.*205G>A)
c.512G>A (p.Arg171His)
c.*21G>A (n.*21G>A)
c.209G>A (p.Arg70His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.47221787G>CCA400022455MYL4c.419G>C (p.Arg140Pro)
c.130G>C
c.*205G>C (n.*205G>C)
c.512G>C (p.Arg171Pro)
c.*21G>C (n.*21G>C)
c.209G>C (p.Arg70Pro)
17g.47221787G=CA2262577623MYL4c.419G= (p.Arg140=)
c.130G=
c.*205G= (n.*205G=)
c.512G= (p.Arg171=)
c.*21G= (n.*21G=)
c.209G= (p.Arg70=)
17g.47221787G>TCA400022457MYL4c.419G>T (p.Arg140Leu)
c.130G>T
c.*205G>T (n.*205G>T)
c.512G>T (p.Arg171Leu)
c.*21G>T (n.*21G>T)
c.209G>T (p.Arg70Leu)
17g.47221788T>ACA500433962MYL4c.420T>A (p.Arg140=)
c.131T>A
c.*206T>A (n.*206T>A)
c.513T>A (p.Arg171=)
c.*22T>A (n.*22T>A)
c.210T>A (p.Arg70=)
17g.47221788T>CCA500433965MYL4c.420T>C (p.Arg140=)
c.131T>C
c.*206T>C (n.*206T>C)
c.513T>C (p.Arg171=)
c.*22T>C (n.*22T>C)
c.210T>C (p.Arg70=)
17g.47221788T>GCA500433963MYL4c.420T>G (p.Arg140=)
c.131T>G
c.*206T>G (n.*206T>G)
c.513T>G (p.Arg171=)
c.*22T>G (n.*22T>G)
c.210T>G (p.Arg70=)
 gnomAD v4
17g.47221789G>ACA400022462MYL4c.421G>A (p.Val141Ile)
c.132G>A
c.*207G>A (n.*207G>A)
c.514G>A (p.Val172Ile)
c.*23G>A (n.*23G>A)
c.211G>A (p.Val71Ile)
17g.47221789G>CCA400022464MYL4c.421G>C (p.Val141Leu)
c.132G>C
c.*207G>C (n.*207G>C)
c.514G>C (p.Val172Leu)
c.*23G>C (n.*23G>C)
c.211G>C (p.Val71Leu)
17g.47221789G>TCA400022460MYL4c.421G>T (p.Val141Phe)
c.132G>T
c.*207G>T (n.*207G>T)
c.514G>T (p.Val172Phe)
c.*23G>T (n.*23G>T)
c.211G>T (p.Val71Phe)
17g.47221790T>ACA400022470MYL4c.422T>A (p.Val141Asp)
c.133T>A
c.*208T>A (n.*208T>A)
c.515T>A (p.Val172Asp)
c.*24T>A (n.*24T>A)
c.212T>A (p.Val71Asp)
17g.47221790T>CCA400022466MYL4c.422T>C (p.Val141Ala)
c.133T>C
c.*208T>C (n.*208T>C)
c.515T>C (p.Val172Ala)
c.*24T>C (n.*24T>C)
c.212T>C (p.Val71Ala)
17g.47221790T>GCA400022468MYL4c.422T>G (p.Val141Gly)
c.133T>G
c.*208T>G (n.*208T>G)
c.515T>G (p.Val172Gly)
c.*24T>G (n.*24T>G)
c.212T>G (p.Val71Gly)
17g.47221791C>ACA500433970MYL4c.423C>A (p.Val141=)
c.134C>A
c.*209C>A (n.*209C>A)
c.516C>A (p.Val172=)
c.*25C>A (n.*25C>A)
c.213C>A (p.Val71=)
17g.47221791C=CA2262577624MYL4c.423C= (p.Val141=)
c.134C=
c.*209C= (n.*209C=)
c.516C= (p.Val172=)
c.*25C= (n.*25C=)
c.213C= (p.Val71=)
17g.47221791C>GCA500433973MYL4c.423C>G (p.Val141=)
c.134C>G
c.*209C>G (n.*209C>G)
c.516C>G (p.Val172=)
c.*25C>G (n.*25C>G)
c.213C>G (p.Val71=)
 dbSNP
17g.47221791C>TCA500433971MYL4c.423C>T (p.Val141=)
c.134C>T
c.*209C>T (n.*209C>T)
c.516C>T (p.Val172=)
c.*25C>T (n.*25C>T)
c.213C>T (p.Val71=)
17g.47221792T>ACA400022472MYL4c.424T>A (p.Phe142Ile)
c.135T>A
c.*210T>A (n.*210T>A)
c.517T>A (p.Phe173Ile)
c.*26T>A (n.*26T>A)
c.214T>A (p.Phe72Ile)
17g.47221792T>CCA400022473MYL4c.424T>C (p.Phe142Leu)
c.135T>C
c.*210T>C (n.*210T>C)
c.517T>C (p.Phe173Leu)
c.*26T>C (n.*26T>C)
c.214T>C (p.Phe72Leu)
17g.47221792T>GCA400022475MYL4c.424T>G (p.Phe142Val)
c.135T>G
c.*210T>G (n.*210T>G)
c.517T>G (p.Phe173Val)
c.*26T>G (n.*26T>G)
c.214T>G (p.Phe72Val)
17g.47221793T>ACA400022477MYL4c.425T>A (p.Phe142Tyr)
c.136T>A
c.*211T>A (n.*211T>A)
c.518T>A (p.Phe173Tyr)
c.*27T>A (n.*27T>A)
c.215T>A (p.Phe72Tyr)
17g.47221793T>CCA400022479MYL4c.425T>C (p.Phe142Ser)
c.136T>C
c.*211T>C (n.*211T>C)
c.518T>C (p.Phe173Ser)
c.*27T>C (n.*27T>C)
c.215T>C (p.Phe72Ser)
17g.47221793T>GCA400022481MYL4c.425T>G (p.Phe142Cys)
c.136T>G
c.*211T>G (n.*211T>G)
c.518T>G (p.Phe173Cys)
c.*27T>G (n.*27T>G)
c.215T>G (p.Phe72Cys)
17g.47221794T>ACA400022483MYL4c.426T>A (p.Phe142Leu)
c.137T>A
c.*212T>A (n.*212T>A)
c.519T>A (p.Phe173Leu)
c.*28T>A (n.*28T>A)
c.216T>A (p.Phe72Leu)
17g.47221794T>CCA500433976MYL4c.426T>C (p.Phe142=)
c.137T>C
c.*212T>C (n.*212T>C)
c.519T>C (p.Phe173=)
c.*28T>C (n.*28T>C)
c.216T>C (p.Phe72=)
17g.47221794T>GCA400022485MYL4c.426T>G (p.Phe142Leu)
c.137T>G
c.*212T>G (n.*212T>G)
c.519T>G (p.Phe173Leu)
c.*28T>G (n.*28T>G)
c.216T>G (p.Phe72Leu)
17g.47221795G>ACA400022488MYL4c.427G>A (p.Asp143Asn)
c.138G>A
c.*213G>A (n.*213G>A)
c.520G>A
c.*29G>A (n.*29G>A)
c.217G>A (p.Asp73Asn)
c.520G>A (p.Asp174Asn)
 gnomAD v4
17g.47221795G>CCA400022490MYL4c.427G>C (p.Asp143His)
c.138G>C
c.*213G>C (n.*213G>C)
c.520G>C
c.*29G>C (n.*29G>C)
c.217G>C (p.Asp73His)
c.520G>C (p.Asp174His)
17g.47221795G>TCA400022491MYL4c.427G>T (p.Asp143Tyr)
c.138G>T
c.*213G>T (n.*213G>T)
c.520G>T
c.*29G>T (n.*29G>T)
c.217G>T (p.Asp73Tyr)
c.520G>T (p.Asp174Tyr)
17g.47221796A=CA2262577625MYL4c.428A= (p.Asp143=)
c.139A=
c.*214A= (n.*214A=)
c.521A=
c.*30A= (n.*30A=)
c.218A= (p.Asp73=)
c.521A= (p.Asp174=)
17g.47221796A>CCA400022493MYL4c.428A>C (p.Asp143Ala)
c.139A>C
c.*214A>C (n.*214A>C)
c.521A>C
c.*30A>C (n.*30A>C)
c.218A>C (p.Asp73Ala)
c.521A>C (p.Asp174Ala)
17g.47221796A>GCA291225746MYL4c.428A>G (p.Asp143Gly)
c.139A>G
c.*214A>G (n.*214A>G)
c.521A>G
c.*30A>G (n.*30A>G)
c.218A>G (p.Asp73Gly)
c.521A>G (p.Asp174Gly)
 dbSNP
17g.47221796A>TCA400022495MYL4c.428A>T (p.Asp143Val)
c.139A>T
c.*214A>T (n.*214A>T)
c.521A>T
c.*30A>T (n.*30A>T)
c.218A>T (p.Asp73Val)
c.521A>T (p.Asp174Val)
17g.47221797C>ACA400022497MYL4c.429C>A (p.Asp143Glu)
c.140C>A
c.*215C>A (n.*215C>A)
c.*31C>A (n.*31C>A)
c.219C>A (p.Asp73Glu)
c.522C>A (p.Asp174Glu)
17g.47221797C=CA2262577626MYL4c.429C= (p.Asp143=)
c.140C=
c.*215C= (n.*215C=)
c.*31C= (n.*31C=)
c.219C= (p.Asp73=)
c.522C= (p.Asp174=)
17g.47221797C>GCA400022499MYL4c.429C>G (p.Asp143Glu)
c.140C>G
c.*215C>G (n.*215C>G)
c.*31C>G (n.*31C>G)
c.219C>G (p.Asp73Glu)
c.522C>G (p.Asp174Glu)
17g.47221797C>TCA8622740MYL4c.429C>T (p.Asp143=)
c.140C>T
c.*215C>T (n.*215C>T)
c.*31C>T (n.*31C>T)
c.219C>T (p.Asp73=)
c.522C>T (p.Asp174=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47221798A=CA2262577627MYL4c.430A= (p.Lys144=)
c.141A=
c.*216A= (n.*216A=)
c.*32A= (n.*32A=)
c.220A= (p.Lys74=)
c.523A= (p.Lys175=)
17g.47221798A>CCA400022501MYL4c.430A>C (p.Lys144Gln)
c.141A>C
c.*216A>C (n.*216A>C)
c.*32A>C (n.*32A>C)
c.220A>C (p.Lys74Gln)
c.523A>C (p.Lys175Gln)
17g.47221798A>GCA400022503MYL4c.430A>G (p.Lys144Glu)
c.141A>G
c.*216A>G (n.*216A>G)
c.*32A>G (n.*32A>G)
c.220A>G (p.Lys74Glu)
c.523A>G (p.Lys175Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.47221798A>TCA400022505MYL4c.430A>T (p.Lys144Ter)
c.141A>T
c.*216A>T (n.*216A>T)
c.*32A>T (n.*32A>T)
c.220A>T (p.Lys74Ter)
c.523A>T (p.Lys175Ter)
17g.47221799A>CCA400022507MYL4c.431A>C (p.Lys144Thr)
c.142A>C
c.*217A>C (n.*217A>C)
c.*33A>C (n.*33A>C)
c.221A>C (p.Lys74Thr)
c.524A>C (p.Lys175Thr)
17g.47221799A>GCA400022509MYL4c.431A>G (p.Lys144Arg)
c.142A>G
c.*217A>G (n.*217A>G)
c.*33A>G (n.*33A>G)
c.221A>G (p.Lys74Arg)
c.524A>G (p.Lys175Arg)
17g.47221799A>TCA400022511MYL4c.431A>T (p.Lys144Met)
c.142A>T
c.*217A>T (n.*217A>T)
c.*33A>T (n.*33A>T)
c.221A>T (p.Lys74Met)
c.524A>T (p.Lys175Met)
17g.47221800G>ACA500433993MYL4c.432G>A (p.Lys144=)
c.143G>A
c.*218G>A (n.*218G>A)
c.*34G>A (n.*34G>A)
c.222G>A (p.Lys74=)
c.525G>A (p.Lys175=)
17g.47221800G>CCA400022512MYL4c.432G>C (p.Lys144Asn)
c.143G>C
c.*218G>C (n.*218G>C)
c.*34G>C (n.*34G>C)
c.222G>C (p.Lys74Asn)
c.525G>C (p.Lys175Asn)
17g.47221800G>TCA400022514MYL4c.432G>T (p.Lys144Asn)
c.143G>T
c.*218G>T (n.*218G>T)
c.*34G>T (n.*34G>T)
c.222G>T (p.Lys74Asn)
c.525G>T (p.Lys175Asn)
17g.47221801G>ACA400022517MYL4c.433G>A (p.Glu145Lys)
c.144G>A
c.*219G>A (n.*219G>A)
c.*35G>A (n.*35G>A)
c.223G>A (p.Glu75Lys)
c.526G>A (p.Glu176Lys)
17g.47221801G>CCA400022519MYL4c.433G>C (p.Glu145Gln)
c.144G>C
c.*219G>C (n.*219G>C)
c.*35G>C (n.*35G>C)
c.223G>C (p.Glu75Gln)
c.526G>C (p.Glu176Gln)
17g.47221801G>TCA400022516MYL4c.433G>T (p.Glu145Ter)
c.144G>T
c.*219G>T (n.*219G>T)
c.*35G>T (n.*35G>T)
c.223G>T (p.Glu75Ter)
c.526G>T (p.Glu176Ter)
17g.47221802A>CCA400022522MYL4c.434A>C (p.Glu145Ala)
c.145A>C
c.*220A>C (n.*220A>C)
c.*36A>C (n.*36A>C)
c.224A>C (p.Glu75Ala)
c.527A>C (p.Glu176Ala)
17g.47221802A>GCA400022524MYL4c.434A>G (p.Glu145Gly)
c.145A>G
c.*220A>G (n.*220A>G)
c.*36A>G (n.*36A>G)
c.224A>G (p.Glu75Gly)
c.527A>G (p.Glu176Gly)
17g.47221802A>TCA400022525MYL4c.434A>T (p.Glu145Val)
c.145A>T
c.*220A>T (n.*220A>T)
c.*36A>T (n.*36A>T)
c.224A>T (p.Glu75Val)
c.527A>T (p.Glu176Val)
17g.47221803G>ACA8622741MYL4c.435G>A (p.Glu145=)
c.146G>A
c.*221G>A (n.*221G>A)
c.*37G>A (n.*37G>A)
c.225G>A (p.Glu75=)
c.528G>A (p.Glu176=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47221803G>CCA400022529MYL4c.435G>C (p.Glu145Asp)
c.146G>C
c.*221G>C (n.*221G>C)
c.*37G>C (n.*37G>C)
c.225G>C (p.Glu75Asp)
c.528G>C (p.Glu176Asp)
 ClinVar dbSNP
17g.47221803G=CA2262577628MYL4c.435G= (p.Glu145=)
c.146G=
c.*221G= (n.*221G=)
c.*37G= (n.*37G=)
c.225G= (p.Glu75=)
c.528G= (p.Glu176=)
17g.47221803G>TCA400022530MYL4c.435G>T (p.Glu145Asp)
c.146G>T
c.*221G>T (n.*221G>T)
c.*37G>T (n.*37G>T)
c.225G>T (p.Glu75Asp)
c.528G>T (p.Glu176Asp)
17g.47221804A>CCA400022533MYL4c.436A>C (p.Ser146Arg)
c.147A>C
c.*222A>C (n.*222A>C)
c.*38A>C (n.*38A>C)
c.226A>C (p.Ser76Arg)
c.529A>C (p.Ser177Arg)
17g.47221804A>GCA400022535MYL4c.436A>G (p.Ser146Gly)
c.147A>G
c.*222A>G (n.*222A>G)
c.*38A>G (n.*38A>G)
c.226A>G (p.Ser76Gly)
c.529A>G (p.Ser177Gly)
17g.47221804A>TCA400022536MYL4c.436A>T (p.Ser146Cys)
c.147A>T
c.*222A>T (n.*222A>T)
c.*38A>T (n.*38A>T)
c.226A>T (p.Ser76Cys)
c.529A>T (p.Ser177Cys)
17g.47221805G>ACA8622742MYL4c.437G>A (p.Ser146Asn)
c.148G>A
c.*223G>A (n.*223G>A)
c.*39G>A (n.*39G>A)
c.227G>A (p.Ser76Asn)
c.530G>A (p.Ser177Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47221805G>CCA400022539MYL4c.437G>C (p.Ser146Thr)
c.148G>C
c.*223G>C (n.*223G>C)
c.*39G>C (n.*39G>C)
c.227G>C (p.Ser76Thr)
c.530G>C (p.Ser177Thr)
17g.47221805G=CA2262577629MYL4c.437G= (p.Ser146=)
c.148G=
c.*223G= (n.*223G=)
c.*39G= (n.*39G=)
c.227G= (p.Ser76=)
c.530G= (p.Ser177=)
17g.47221805G>TCA400022541MYL4c.437G>T (p.Ser146Ile)
c.148G>T
c.*223G>T (n.*223G>T)
c.*39G>T (n.*39G>T)
c.227G>T (p.Ser76Ile)
c.530G>T (p.Ser177Ile)
17g.47221806C>ACA400022544MYL4c.438C>A (p.Ser146Arg)
c.149C>A
c.*224C>A (n.*224C>A)
c.*40C>A (n.*40C>A)
c.228C>A (p.Ser76Arg)
c.531C>A (p.Ser177Arg)
17g.47221806C>GCA400022545MYL4c.438C>G (p.Ser146Arg)
c.149C>G
c.*224C>G (n.*224C>G)
c.*40C>G (n.*40C>G)
c.228C>G (p.Ser76Arg)
c.531C>G (p.Ser177Arg)
17g.47221806C>TCA500434001MYL4c.438C>T (p.Ser146=)
c.149C>T
c.*224C>T (n.*224C>T)
c.*40C>T (n.*40C>T)
c.228C>T (p.Ser76=)
c.531C>T (p.Ser177=)
17g.47221807A>CCA400022552MYL4c.439A>C (p.Asn147His)
c.150A>C
c.*225A>C (n.*225A>C)
c.*41A>C (n.*41A>C)
c.229A>C (p.Asn77His)
c.532A>C (p.Asn178His)
17g.47221807A>GCA400022550MYL4c.439A>G (p.Asn147Asp)
c.150A>G
c.*225A>G (n.*225A>G)
c.*41A>G (n.*41A>G)
c.229A>G (p.Asn77Asp)
c.532A>G (p.Asn178Asp)
 gnomAD v4
17g.47221807A>TCA400022548MYL4c.439A>T (p.Asn147Tyr)
c.150A>T
c.*225A>T (n.*225A>T)
c.*41A>T (n.*41A>T)
c.229A>T (p.Asn77Tyr)
c.532A>T (p.Asn178Tyr)
17g.47221808A>CCA400022554MYL4c.440A>C (p.Asn147Thr)
c.151A>C
c.*226A>C (n.*226A>C)
c.*42A>C (n.*42A>C)
c.230A>C (p.Asn77Thr)
c.533A>C (p.Asn178Thr)
17g.47221808A>GCA400022556MYL4c.440A>G (p.Asn147Ser)
c.151A>G
c.*226A>G (n.*226A>G)
c.*42A>G (n.*42A>G)
c.230A>G (p.Asn77Ser)
c.533A>G (p.Asn178Ser)
17g.47221808A>TCA400022558MYL4c.440A>T (p.Asn147Ile)
c.151A>T
c.*226A>T (n.*226A>T)
c.*42A>T (n.*42A>T)
c.230A>T (p.Asn77Ile)
c.533A>T (p.Asn178Ile)
17g.47221809T>ACA400022560MYL4c.441T>A (p.Asn147Lys)
c.152T>A
c.*227T>A (n.*227T>A)
c.*43T>A (n.*43T>A)
c.231T>A (p.Asn77Lys)
c.534T>A (p.Asn178Lys)
17g.47221809T>CCA500434006MYL4c.441T>C (p.Asn147=)
c.152T>C
c.*227T>C (n.*227T>C)
c.*43T>C (n.*43T>C)
c.231T>C (p.Asn77=)
c.534T>C (p.Asn178=)
 ClinVar dbSNP gnomAD v4
17g.47221809T>GCA400022562MYL4c.441T>G (p.Asn147Lys)
c.152T>G
c.*227T>G (n.*227T>G)
c.*43T>G (n.*43T>G)
c.231T>G (p.Asn77Lys)
c.534T>G (p.Asn178Lys)
17g.47221809T=CA2262577630MYL4c.441T= (p.Asn147=)
c.152T=
c.*227T= (n.*227T=)
c.*43T= (n.*43T=)
c.231T= (p.Asn77=)
c.534T= (p.Asn178=)
17g.47221810G>ACA400022564MYL4c.442G>A (p.Gly148Ser)
c.153G>A
c.*228G>A (n.*228G>A)
c.*44G>A (n.*44G>A)
c.232G>A (p.Gly78Ser)
c.535G>A (p.Gly179Ser)
17g.47221810G>CCA400022566MYL4c.442G>C (p.Gly148Arg)
c.153G>C
c.*228G>C (n.*228G>C)
c.*44G>C (n.*44G>C)
c.232G>C (p.Gly78Arg)
c.535G>C (p.Gly179Arg)
17g.47221810G>TCA400022568MYL4c.442G>T (p.Gly148Cys)
c.153G>T
c.*228G>T (n.*228G>T)
c.*44G>T (n.*44G>T)
c.232G>T (p.Gly78Cys)
c.535G>T (p.Gly179Cys)
17g.47221811G>ACA400022570MYL4c.443G>A (p.Gly148Asp)
c.154G>A
c.*229G>A (n.*229G>A)
c.*45G>A (n.*45G>A)
c.233G>A (p.Gly78Asp)
c.536G>A (p.Gly179Asp)
 dbSNP gnomAD v2 gnomAD v4
17g.47221811G>CCA400022572MYL4c.443G>C (p.Gly148Ala)
c.154G>C
c.*229G>C (n.*229G>C)
c.*45G>C (n.*45G>C)
c.233G>C (p.Gly78Ala)
c.536G>C (p.Gly179Ala)
17g.47221811G=CA2262577631MYL4c.443G= (p.Gly148=)
c.154G=
c.*229G= (n.*229G=)
c.*45G= (n.*45G=)
c.233G= (p.Gly78=)
c.536G= (p.Gly179=)
17g.47221811G>TCA400022574MYL4c.443G>T (p.Gly148Val)
c.154G>T
c.*229G>T (n.*229G>T)
c.*45G>T (n.*45G>T)
c.233G>T (p.Gly78Val)
c.536G>T (p.Gly179Val)
 gnomAD v4
17g.47221812C>ACA500434012MYL4c.444C>A (p.Gly148=)
c.155C>A
c.*230C>A (n.*230C>A)
c.*46C>A (n.*46C>A)
c.234C>A (p.Gly78=)
c.537C>A (p.Gly179=)
17g.47221812C>GCA500434014MYL4c.444C>G (p.Gly148=)
c.155C>G
c.*230C>G (n.*230C>G)
c.*46C>G (n.*46C>G)
c.234C>G (p.Gly78=)
c.537C>G (p.Gly179=)
17g.47221812C>TCA500434015MYL4c.444C>T (p.Gly148=)
c.155C>T
c.*230C>T (n.*230C>T)
c.*46C>T (n.*46C>T)
c.234C>T (p.Gly78=)
c.537C>T (p.Gly179=)
17g.47221813A=CA2262577632MYL4c.445A= (p.Thr149=)
c.156A=
c.*231A= (n.*231A=)
c.*47A= (n.*47A=)
c.235A= (p.Thr79=)
c.538A= (p.Thr180=)
17g.47221813A>CCA400022577MYL4c.445A>C (p.Thr149Pro)
c.156A>C
c.*231A>C (n.*231A>C)
c.*47A>C (n.*47A>C)
c.235A>C (p.Thr79Pro)
c.538A>C (p.Thr180Pro)
17g.47221813A>GCA400022579MYL4c.445A>G (p.Thr149Ala)
c.156A>G
c.*231A>G (n.*231A>G)
c.*47A>G (n.*47A>G)
c.235A>G (p.Thr79Ala)
c.538A>G (p.Thr180Ala)
17g.47221813A>TCA400022581MYL4c.445A>T (p.Thr149Ser)
c.156A>T
c.*231A>T (n.*231A>T)
c.*47A>T (n.*47A>T)
c.235A>T (p.Thr79Ser)
c.538A>T (p.Thr180Ser)
 dbSNP gnomAD v2 gnomAD v4
17g.47221814C>ACA400022586MYL4c.446C>A (p.Thr149Lys)
c.157C>A
c.*232C>A (n.*232C>A)
c.*48C>A (n.*48C>A)
c.236C>A (p.Thr79Lys)
c.539C>A (p.Thr180Lys)
17g.47221814C=CA2262577633MYL4c.446C= (p.Thr149=)
c.157C=
c.*232C= (n.*232C=)
c.*48C= (n.*48C=)
c.236C= (p.Thr79=)
c.539C= (p.Thr180=)
17g.47221814C>GCA400022588MYL4c.446C>G (p.Thr149Arg)
c.157C>G
c.*232C>G (n.*232C>G)
c.*48C>G (n.*48C>G)
c.236C>G (p.Thr79Arg)
c.539C>G (p.Thr180Arg)
17g.47221814C>TCA8622743MYL4c.446C>T (p.Thr149Met)
c.157C>T
c.*232C>T (n.*232C>T)
c.*48C>T (n.*48C>T)
c.236C>T (p.Thr79Met)
c.539C>T (p.Thr180Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47221815G>ACA8622744MYL4c.447G>A (p.Thr149=)
c.158G>A
c.*233G>A (n.*233G>A)
c.*49G>A (n.*49G>A)
c.237G>A (p.Thr79=)
c.540G>A (p.Thr180=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47221815G>CCA500434021MYL4c.447G>C (p.Thr149=)
c.158G>C
c.*233G>C (n.*233G>C)
c.*49G>C (n.*49G>C)
c.237G>C (p.Thr79=)
c.540G>C (p.Thr180=)
17g.47221815G=CA2262577634MYL4c.447G= (p.Thr149=)
c.158G=
c.*233G= (n.*233G=)
c.*49G= (n.*49G=)
c.237G= (p.Thr79=)
c.540G= (p.Thr180=)
17g.47221815G>TCA500434018MYL4c.447G>T (p.Thr149=)
c.158G>T
c.*233G>T (n.*233G>T)
c.*49G>T (n.*49G>T)
c.237G>T (p.Thr79=)
c.540G>T (p.Thr180=)
 gnomAD v4

Number of alleles fetched