Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.47221721C>A | CA291225725 | MYL4 | c.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 |
17 | g.47221721C= | CA2262577596 | MYL4 | c.353C= (p.Pro118=) c.64C= c.*139C= (n.*139C=) c.446C= (p.Pro149=) c.314-11C= (n.314-11C=) c.143C= (p.Pro48=) | |
17 | g.47221721C>G | CA8622726 | MYL4 | c.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 |
17 | g.47221721C>T | CA400022244 | MYL4 | c.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 |
17 | g.47221722C>A | CA500433863 | MYL4 | c.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=) | |
17 | g.47221722C>G | CA500433862 | MYL4 | c.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=) | |
17 | g.47221722C>T | CA500433861 | MYL4 | c.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=) | |
17 | g.47221723A>C | CA400022245 | MYL4 | c.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) | |
17 | g.47221723A>G | CA400022246 | MYL4 | c.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) | |
17 | g.47221723A>T | CA400022247 | MYL4 | c.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) | |
17 | g.47221724T>A | CA400022249 | MYL4 | c.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) | |
17 | g.47221724T>C | CA400022250 | MYL4 | c.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) | |
17 | g.47221724T>G | CA400022248 | MYL4 | c.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) | |
17 | g.47221725C>A | CA500433864 | MYL4 | c.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=) | |
17 | g.47221725C= | CA2262577597 | MYL4 | c.357C= (p.Ile119=) c.68C= c.*143C= (n.*143C=) c.450C= (p.Ile150=) c.314-7C= (n.314-7C=) c.147C= (p.Ile49=) | |
17 | g.47221725C>G | CA400022251 | MYL4 | c.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 |
17 | g.47221725C>T | CA500433865 | MYL4 | c.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 |
17 | g.47221726C>A | CA400022252 | MYL4 | c.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) | |
17 | g.47221726C= | CA2262577598 | MYL4 | c.358C= (p.Leu120=) c.69C= c.*144C= (n.*144C=) c.451C= (p.Leu151=) c.314-6C= (n.314-6C=) c.148C= (p.Leu50=) | |
17 | g.47221726C>G | CA400022253 | MYL4 | c.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) | |
17 | g.47221726C>T | CA500433866 | MYL4 | c.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 |
17 | g.47221727T>A | CA400022254 | MYL4 | c.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) | |
17 | g.47221727T>C | CA400022255 | MYL4 | c.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 |
17 | g.47221727T>G | CA400022256 | MYL4 | c.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) | |
17 | g.47221727T= | CA2262577599 | MYL4 | c.359T= (p.Leu120=) c.70T= c.*145T= (n.*145T=) c.452T= (p.Leu151=) c.314-5T= (n.314-5T=) c.149T= (p.Leu50=) | |
17 | g.47221728G>A | CA500433867 | MYL4 | c.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=) | |
17 | g.47221728G>C | CA500433868 | MYL4 | c.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=) | |
17 | g.47221728G>T | CA500433869 | MYL4 | c.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=) | |
17 | g.47221728_47221729del | CA645573573 | MYL4 | c.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 |
17 | g.47221729C>A | CA400022257 | MYL4 | c.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) | |
17 | g.47221729C= | CA2262577600 | MYL4 | c.361C= (p.Gln121=) c.72C= c.*147C= (n.*147C=) c.454C= (p.Gln152=) c.314-3C= (n.314-3C=) c.151C= (p.Gln51=) | |
17 | g.47221729C>G | CA400022258 | MYL4 | c.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) | |
17 | g.47221729C>T | CA8622727 | MYL4 | c.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 |
17 | g.47221730A>C | CA400022259 | MYL4 | c.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) | |
17 | g.47221730A>G | CA400022260 | MYL4 | c.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) | |
17 | g.47221730A>T | CA400022261 | MYL4 | c.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) | |
17 | g.47221731G>A | CA500433870 | MYL4 | c.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=) | |
17 | g.47221731G>C | CA400022263 | MYL4 | c.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) | |
17 | g.47221731G>T | CA400022262 | MYL4 | c.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) | |
17 | g.47221732C>A | CA400022264 | MYL4 | c.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) | |
17 | g.47221732C= | CA2262577601 | MYL4 | c.364C= (p.His122=) c.75C= c.*150C= (n.*150C=) c.457C= (p.His153=) c.314C= (p.Ala105=) c.154C= (p.His52=) | |
17 | g.47221732C>G | CA400022265 | MYL4 | c.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) | |
17 | g.47221732C>T | CA400022266 | MYL4 | c.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 |
17 | g.47221733A= | CA2262577602 | MYL4 | c.365A= (p.His122=) c.76A= c.*151A= (n.*151A=) c.458A= (p.His153=) c.315A= (p.Ala105=) c.155A= (p.His52=) | |
17 | g.47221733A>C | CA400022267 | MYL4 | c.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) | |
17 | g.47221733A>G | CA8622728 | MYL4 | c.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 |
17 | g.47221733A>T | CA400022268 | MYL4 | c.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) | |
17 | g.47221734C>A | CA400022269 | MYL4 | c.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) | |
17 | g.47221734C>G | CA400022270 | MYL4 | c.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) | |
17 | g.47221734C>T | CA500433871 | MYL4 | c.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=) | |
17 | g.47221735A>C | CA400022271 | MYL4 | c.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 |
17 | g.47221735A>G | CA400022272 | MYL4 | c.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) | |
17 | g.47221735A>T | CA400022273 | MYL4 | c.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 |
17 | g.47221736T>A | CA400022274 | MYL4 | c.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) | |
17 | g.47221736T>C | CA8622729 | MYL4 | c.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 |
17 | g.47221736T>G | CA400022275 | MYL4 | c.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) | |
17 | g.47221736T= | CA2262577603 | MYL4 | c.368T= (p.Ile123=) c.79T= c.*154T= (n.*154T=) c.461T= (p.Ile154=) c.318T= (p.His106=) c.158T= (p.Ile53=) | |
17 | g.47221737T>A | CA500433873 | MYL4 | c.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=) | |
17 | g.47221737T>C | CA500433872 | MYL4 | c.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 |
17 | g.47221737T>G | CA400022276 | MYL4 | c.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) | |
17 | g.47221738T>A | CA400022277 | MYL4 | c.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) | |
17 | g.47221738T>C | CA8622730 | MYL4 | c.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 |
17 | g.47221738T>G | CA400022278 | MYL4 | c.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 |
17 | g.47221738T= | CA2262577604 | MYL4 | c.370T= (p.Ser124=) c.81T= c.*156T= (n.*156T=) c.463T= (p.Ser155=) c.320T= (p.Phe107=) c.160T= (p.Ser54=) | |
17 | g.47221739C>A | CA400022279 | MYL4 | c.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) | |
17 | g.47221739C= | CA2262577605 | MYL4 | c.371C= (p.Ser124=) c.82C= c.*157C= (n.*157C=) c.464C= (p.Ser155=) c.321C= (p.Phe107=) c.161C= (p.Ser54=) | |
17 | g.47221739C>G | CA400022280 | MYL4 | c.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) | |
17 | g.47221739C>T | CA400022281 | MYL4 | c.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 |
17 | g.47221740C>A | CA500433874 | MYL4 | c.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=) | |
17 | g.47221740C>G | CA500433875 | MYL4 | c.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 |
17 | g.47221740C>T | CA500433876 | MYL4 | c.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 |
17 | g.47221741C>A | CA400022282 | MYL4 | c.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 |
17 | g.47221741C= | CA2262577606 | MYL4 | c.373C= (p.Arg125=) c.84C= c.*159C= (n.*159C=) c.466C= (p.Arg156=) c.323C= (p.Pro108=) c.163C= (p.Arg55=) | |
17 | g.47221741C>G | CA400022283 | MYL4 | c.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 |
17 | g.47221741C>T | CA8622731 | MYL4 | c.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 |
17 | g.47221742G>A | CA8622732 | MYL4 | c.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 |
17 | g.47221742G>C | CA400022284 | MYL4 | c.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) | |
17 | g.47221742G= | CA2262577607 | MYL4 | c.374G= (p.Arg125=) c.85G= c.*160G= (n.*160G=) c.467G= (p.Arg156=) c.324G= (p.Pro108=) c.164G= (p.Arg55=) | |
17 | g.47221742G>T | CA400022285 | MYL4 | c.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 |
17 | g.47221743C>A | CA500433877 | MYL4 | c.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=) | |
17 | g.47221743C>G | CA500433878 | MYL4 | c.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=) | |
17 | g.47221743C>T | CA500433879 | MYL4 | c.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=) | |
17 | g.47221744A= | CA2262577608 | MYL4 | c.376A= (p.Asn126=) c.87A= c.*162A= (n.*162A=) c.469A= (p.Asn157=) c.326A= (p.Gln109=) c.166A= (p.Asn56=) | |
17 | g.47221744A>C | CA400022286 | MYL4 | c.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) | |
17 | g.47221744A>G | CA291225738 | MYL4 | c.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 |
17 | g.47221744A>T | CA400022287 | MYL4 | c.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) | |
17 | g.47221745A>C | CA400022290 | MYL4 | c.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) | |
17 | g.47221745A>G | CA400022288 | MYL4 | c.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) | |
17 | g.47221745A>T | CA400022289 | MYL4 | c.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) | |
17 | g.47221746C>A | CA400022291 | MYL4 | c.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) | |
17 | g.47221746C>G | CA400022292 | MYL4 | c.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) | |
17 | g.47221746C>T | CA500433881 | MYL4 | c.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 |
17 | g.47221747A>C | CA400022293 | MYL4 | c.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) | |
17 | g.47221747A>G | CA400022294 | MYL4 | c.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) | |
17 | g.47221747A>T | CA400022295 | MYL4 | c.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) | |
17 | g.47221748A>C | CA400022296 | MYL4 | c.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) | |
17 | g.47221748A>G | CA400022297 | MYL4 | c.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) | |
17 | g.47221748A>T | CA400022298 | MYL4 | c.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) | |
17 | g.47221749G>A | CA8622733 | MYL4 | c.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 |
17 | g.47221749G>C | CA400022299 | MYL4 | c.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) | |
17 | g.47221749G= | CA2262577609 | MYL4 | c.381G= (p.Lys127=) c.92G= c.*167G= (n.*167G=) c.474G= (p.Lys158=) c.331G= (p.Gly111=) c.171G= (p.Lys57=) | |
17 | g.47221749G>T | CA400022300 | MYL4 | c.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) | |
17 | g.47221750G>A | CA400022302 | MYL4 | c.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 |
17 | g.47221750G>C | CA400022303 | MYL4 | c.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 |
17 | g.47221750G= | CA2262577610 | MYL4 | c.382G= (p.Glu128=) c.93G= c.*168G= (n.*168G=) c.475G= (p.Glu159=) c.332G= (p.Gly111=) c.172G= (p.Glu58=) | |
17 | g.47221750G>T | CA400022301 | MYL4 | c.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) | |
17 | g.47221751A>C | CA400022304 | MYL4 | c.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) | |
17 | g.47221751A>G | CA400022305 | MYL4 | c.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) | |
17 | g.47221751A>T | CA400022306 | MYL4 | c.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) | |
17 | g.47221752G>A | CA500433883 | MYL4 | c.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=) | |
17 | g.47221752G>C | CA400022307 | MYL4 | c.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) | |
17 | g.47221752G>T | CA400022308 | MYL4 | c.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 |
17 | g.47221753C>A | CA400022309 | MYL4 | c.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) | |
17 | g.47221753C>G | CA400022310 | MYL4 | c.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) | |
17 | g.47221753C>T | CA400022311 | MYL4 | c.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) | |
17 | g.47221754A= | CA2262577611 | MYL4 | c.386A= (p.Gln129=) c.97A= c.*172A= (n.*172A=) c.479A= (p.Gln160=) c.336A= (p.Ala112=) c.176A= (p.Gln59=) | |
17 | g.47221754A>C | CA400022312 | MYL4 | c.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) | |
17 | g.47221754A>G | CA400022313 | MYL4 | c.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 |
17 | g.47221754A>T | CA400022314 | MYL4 | c.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) | |
17 | g.47221755G>A | CA500433888 | MYL4 | c.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 |
17 | g.47221755G>C | CA400022315 | MYL4 | c.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) | |
17 | g.47221755G>T | CA400022316 | MYL4 | c.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) | |
17 | g.47221756G>A | CA400022319 | MYL4 | c.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 |
17 | g.47221756G>C | CA400022318 | MYL4 | c.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) | |
17 | g.47221756G>T | CA400022317 | MYL4 | c.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) | |
17 | g.47221757G>A | CA400022320 | MYL4 | c.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) | |
17 | g.47221757G>C | CA400022321 | MYL4 | c.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) | |
17 | g.47221757G>T | CA400022322 | MYL4 | c.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) | |
17 | g.47221758C>A | CA500433893 | MYL4 | c.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=) | |
17 | g.47221758C>G | CA500433894 | MYL4 | c.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=) | |
17 | g.47221758C>T | CA500433892 | MYL4 | c.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=) | |
17 | g.47221759A>C | CA400022323 | MYL4 | c.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) | |
17 | g.47221759A>G | CA400022324 | MYL4 | c.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 |
17 | g.47221759A>T | CA400022325 | MYL4 | c.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) | |
17 | g.47221760C>A | CA400022326 | MYL4 | c.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 |
17 | g.47221760C>G | CA400022327 | MYL4 | c.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 |
17 | g.47221760C>T | CA400022328 | MYL4 | c.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 |
17 | g.47221761C>A | CA500433899 | MYL4 | c.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 |
17 | g.47221761C= | CA2262577612 | MYL4 | c.393C= (p.Thr131=) c.104C= c.*179C= (n.*179C=) c.486C= (p.Thr162=) c.343C= (p.Leu115=) c.183C= (p.Thr61=) | |
17 | g.47221761C>G | CA500433896 | MYL4 | c.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=) | |
17 | g.47221761C>T | CA500433897 | MYL4 | c.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 |
17 | g.47221762T>A | CA400022329 | MYL4 | c.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 |
17 | g.47221762T>C | CA400022332 | MYL4 | c.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) | |
17 | g.47221762T>G | CA400022334 | MYL4 | c.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) | |
17 | g.47221763A= | CA2262577613 | MYL4 | c.395A= (p.Tyr132=) c.106A= c.*181A= (n.*181A=) c.488A= (p.Tyr163=) c.345A= (p.Leu115=) c.185A= (p.Tyr62=) | |
17 | g.47221763A>C | CA400022339 | MYL4 | c.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) | |
17 | g.47221763A>G | CA400022337 | MYL4 | c.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) | |
17 | g.47221763A>T | CA8622734 | MYL4 | c.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 |
17 | g.47221764T>A | CA400022341 | MYL4 | c.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) | |
17 | g.47221764T>C | CA8622735 | MYL4 | c.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 |
17 | g.47221764T>G | CA400022343 | MYL4 | c.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) | |
17 | g.47221764T= | CA2262577614 | MYL4 | c.396T= (p.Tyr132=) c.107T= c.*182T= (n.*182T=) c.489T= (p.Tyr163=) c.346T= (p.Ter116=) c.186T= (p.Tyr62=) | |
17 | g.47221765G>A | CA400022347 | MYL4 | c.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) | |
17 | g.47221765G>C | CA400022349 | MYL4 | c.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) | |
17 | g.47221765G>T | CA400022350 | MYL4 | c.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) | |
17 | g.47221766A>C | CA400022354 | MYL4 | c.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) | |
17 | g.47221766A>G | CA400022356 | MYL4 | c.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) | |
17 | g.47221766A>T | CA400022357 | MYL4 | c.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) | |
17 | g.47221767G>A | CA500433905 | MYL4 | c.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 |
17 | g.47221767G>C | CA400022359 | MYL4 | c.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) | |
17 | g.47221767G>T | CA400022361 | MYL4 | c.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) | |
17 | g.47221768G>A | CA400022363 | MYL4 | c.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) | |
17 | g.47221768G>C | CA400022365 | MYL4 | c.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) | |
17 | g.47221768G>T | CA400022367 | MYL4 | c.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) | |
17 | g.47221769A>C | CA400022369 | MYL4 | c.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) | |
17 | g.47221769A>G | CA400022371 | MYL4 | c.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) | |
17 | g.47221769A>T | CA400022373 | MYL4 | c.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) | |
17 | g.47221770C>A | CA400022376 | MYL4 | c.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) | |
17 | g.47221770C= | CA2262577615 | MYL4 | c.402C= (p.Asp134=) c.113C= c.*188C= (n.*188C=) c.495C= (p.Asp165=) c.*4C= (n.*4C=) c.192C= (p.Asp64=) | |
17 | g.47221770C>G | CA400022377 | MYL4 | c.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) | |
17 | g.47221770C>T | CA500433909 | MYL4 | c.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 |
17 | g.47221771T>A | CA400022380 | MYL4 | c.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 |
17 | g.47221771T>C | CA400022382 | MYL4 | c.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) | |
17 | g.47221771T>G | CA400022384 | MYL4 | c.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) | |
17 | g.47221771T= | CA2262577616 | MYL4 | c.403T= (p.Phe135=) c.114T= c.*189T= (n.*189T=) c.496T= (p.Phe166=) c.*5T= (n.*5T=) c.193T= (p.Phe65=) | |
17 | g.47221772T>A | CA400022386 | MYL4 | c.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) | |
17 | g.47221772T>C | CA400022388 | MYL4 | c.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) | |
17 | g.47221772T>G | CA400022391 | MYL4 | c.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) | |
17 | g.47221773C>A | CA291225741 | MYL4 | c.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 |
17 | g.47221773C= | CA2262577617 | MYL4 | c.405C= (p.Phe135=) c.116C= c.*191C= (n.*191C=) c.498C= (p.Phe166=) c.*7C= (n.*7C=) c.195C= (p.Phe65=) | |
17 | g.47221773C>G | CA400022394 | MYL4 | c.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) | |
17 | g.47221773C>T | CA8622736 | MYL4 | c.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 |
17 | g.47221774G>A | CA8622737 | MYL4 | c.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 |
17 | g.47221774G>C | CA400022398 | MYL4 | c.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 |
17 | g.47221774G= | CA2262577618 | MYL4 | c.406G= (p.Val136=) c.117G= c.*192G= (n.*192G=) c.499G= (p.Val167=) c.*8G= (n.*8G=) c.196G= (p.Val66=) | |
17 | g.47221774G>T | CA400022400 | MYL4 | c.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 |
17 | g.47221775T>A | CA400022403 | MYL4 | c.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) | |
17 | g.47221775T>C | CA400022406 | MYL4 | c.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 |
17 | g.47221775T>G | CA400022405 | MYL4 | c.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) | |
17 | g.47221776G>A | CA500433922 | MYL4 | c.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=) | |
17 | g.47221776G>C | CA500433923 | MYL4 | c.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=) | |
17 | g.47221776G>T | CA500433924 | MYL4 | c.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=) | |
17 | g.47221777G>A | CA400022409 | MYL4 | c.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) | |
17 | g.47221777G>C | CA400022411 | MYL4 | c.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) | |
17 | g.47221777G>T | CA400022413 | MYL4 | c.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) | |
17 | g.47221778A>C | CA400022415 | MYL4 | c.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) | |
17 | g.47221778A>G | CA400022418 | MYL4 | c.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) | |
17 | g.47221778A>T | CA400022420 | MYL4 | c.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) | |
17 | g.47221779G>A | CA500433930 | MYL4 | c.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=) | |
17 | g.47221779G>C | CA400022422 | MYL4 | c.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) | |
17 | g.47221779G>T | CA400022424 | MYL4 | c.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) | |
17 | g.47221780G>A | CA400022426 | MYL4 | c.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) | |
17 | g.47221780G>C | CA400022428 | MYL4 | c.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) | |
17 | g.47221780G>T | CA400022430 | MYL4 | c.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) | |
17 | g.47221781G>A | CA400022436 | MYL4 | c.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 |
17 | g.47221781G>C | CA400022435 | MYL4 | c.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) | |
17 | g.47221781G>T | CA400022433 | MYL4 | c.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) | |
17 | g.47221782C>A | CA500433943 | MYL4 | c.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=) | |
17 | g.47221782C= | CA2262577619 | MYL4 | c.414C= (p.Gly138=) c.125C= c.*200C= (n.*200C=) c.507C= (p.Gly169=) c.*16C= (n.*16C=) c.204C= (p.Gly68=) | |
17 | g.47221782C>G | CA500433941 | MYL4 | c.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=) | |
17 | g.47221782C>T | CA291225744 | MYL4 | c.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 |
17 | g.47221783C>A | CA400022438 | MYL4 | c.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) | |
17 | g.47221783C= | CA2262577620 | MYL4 | c.415C= (p.Leu139=) c.126C= c.*201C= (n.*201C=) c.508C= (p.Leu170=) c.*17C= (n.*17C=) c.205C= (p.Leu69=) | |
17 | g.47221783C>G | CA400022440 | MYL4 | c.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) | |
17 | g.47221783C>T | CA500433944 | MYL4 | c.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 |
17 | g.47221784T>A | CA400022442 | MYL4 | c.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) | |
17 | g.47221784T>C | CA400022444 | MYL4 | c.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 |
17 | g.47221784T>G | CA400022446 | MYL4 | c.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) | |
17 | g.47221784T= | CA2262577621 | MYL4 | c.416T= (p.Leu139=) c.127T= c.*202T= (n.*202T=) c.509T= (p.Leu170=) c.*18T= (n.*18T=) c.206T= (p.Leu69=) | |
17 | g.47221785G>A | CA500433952 | MYL4 | c.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=) | |
17 | g.47221785G>C | CA500433951 | MYL4 | c.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=) | |
17 | g.47221785G>T | CA500433953 | MYL4 | c.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=) | |
17 | g.47221785_47221787dup | CA2638433047 | MYL4 | c.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 |
17 | g.47221786C>A | CA400022449 | MYL4 | c.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) | |
17 | g.47221786C= | CA2262577622 | MYL4 | c.418C= (p.Arg140=) c.129C= c.*204C= (n.*204C=) c.511C= (p.Arg171=) c.*20C= (n.*20C=) c.208C= (p.Arg70=) | |
17 | g.47221786C>G | CA400022451 | MYL4 | c.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 |
17 | g.47221786C>T | CA8622738 | MYL4 | c.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 |
17 | g.47221787G>A | CA8622739 | MYL4 | c.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 |
17 | g.47221787G>C | CA400022455 | MYL4 | c.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) | |
17 | g.47221787G= | CA2262577623 | MYL4 | c.419G= (p.Arg140=) c.130G= c.*205G= (n.*205G=) c.512G= (p.Arg171=) c.*21G= (n.*21G=) c.209G= (p.Arg70=) | |
17 | g.47221787G>T | CA400022457 | MYL4 | c.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) | |
17 | g.47221788T>A | CA500433962 | MYL4 | c.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=) | |
17 | g.47221788T>C | CA500433965 | MYL4 | c.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=) | |
17 | g.47221788T>G | CA500433963 | MYL4 | c.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 |
17 | g.47221789G>A | CA400022462 | MYL4 | c.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) | |
17 | g.47221789G>C | CA400022464 | MYL4 | c.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) | |
17 | g.47221789G>T | CA400022460 | MYL4 | c.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) | |
17 | g.47221790T>A | CA400022470 | MYL4 | c.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) | |
17 | g.47221790T>C | CA400022466 | MYL4 | c.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) | |
17 | g.47221790T>G | CA400022468 | MYL4 | c.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) | |
17 | g.47221791C>A | CA500433970 | MYL4 | c.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=) | |
17 | g.47221791C= | CA2262577624 | MYL4 | c.423C= (p.Val141=) c.134C= c.*209C= (n.*209C=) c.516C= (p.Val172=) c.*25C= (n.*25C=) c.213C= (p.Val71=) | |
17 | g.47221791C>G | CA500433973 | MYL4 | c.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 |
17 | g.47221791C>T | CA500433971 | MYL4 | c.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=) | |
17 | g.47221792T>A | CA400022472 | MYL4 | c.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) | |
17 | g.47221792T>C | CA400022473 | MYL4 | c.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) | |
17 | g.47221792T>G | CA400022475 | MYL4 | c.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) | |
17 | g.47221793T>A | CA400022477 | MYL4 | c.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) | |
17 | g.47221793T>C | CA400022479 | MYL4 | c.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) | |
17 | g.47221793T>G | CA400022481 | MYL4 | c.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) | |
17 | g.47221794T>A | CA400022483 | MYL4 | c.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) | |
17 | g.47221794T>C | CA500433976 | MYL4 | c.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=) | |
17 | g.47221794T>G | CA400022485 | MYL4 | c.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) | |
17 | g.47221795G>A | CA400022488 | MYL4 | c.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 |
17 | g.47221795G>C | CA400022490 | MYL4 | c.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) | |
17 | g.47221795G>T | CA400022491 | MYL4 | c.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) | |
17 | g.47221796A= | CA2262577625 | MYL4 | c.428A= (p.Asp143=) c.139A= c.*214A= (n.*214A=) c.521A= c.*30A= (n.*30A=) c.218A= (p.Asp73=) c.521A= (p.Asp174=) | |
17 | g.47221796A>C | CA400022493 | MYL4 | c.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) | |
17 | g.47221796A>G | CA291225746 | MYL4 | c.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 |
17 | g.47221796A>T | CA400022495 | MYL4 | c.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) | |
17 | g.47221797C>A | CA400022497 | MYL4 | c.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) | |
17 | g.47221797C= | CA2262577626 | MYL4 | c.429C= (p.Asp143=) c.140C= c.*215C= (n.*215C=) c.*31C= (n.*31C=) c.219C= (p.Asp73=) c.522C= (p.Asp174=) | |
17 | g.47221797C>G | CA400022499 | MYL4 | c.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) | |
17 | g.47221797C>T | CA8622740 | MYL4 | c.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 |
17 | g.47221798A= | CA2262577627 | MYL4 | c.430A= (p.Lys144=) c.141A= c.*216A= (n.*216A=) c.*32A= (n.*32A=) c.220A= (p.Lys74=) c.523A= (p.Lys175=) | |
17 | g.47221798A>C | CA400022501 | MYL4 | c.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) | |
17 | g.47221798A>G | CA400022503 | MYL4 | c.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 |
17 | g.47221798A>T | CA400022505 | MYL4 | c.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) | |
17 | g.47221799A>C | CA400022507 | MYL4 | c.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) | |
17 | g.47221799A>G | CA400022509 | MYL4 | c.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) | |
17 | g.47221799A>T | CA400022511 | MYL4 | c.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) | |
17 | g.47221800G>A | CA500433993 | MYL4 | c.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=) | |
17 | g.47221800G>C | CA400022512 | MYL4 | c.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) | |
17 | g.47221800G>T | CA400022514 | MYL4 | c.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) | |
17 | g.47221801G>A | CA400022517 | MYL4 | c.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) | |
17 | g.47221801G>C | CA400022519 | MYL4 | c.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) | |
17 | g.47221801G>T | CA400022516 | MYL4 | c.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) | |
17 | g.47221802A>C | CA400022522 | MYL4 | c.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) | |
17 | g.47221802A>G | CA400022524 | MYL4 | c.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) | |
17 | g.47221802A>T | CA400022525 | MYL4 | c.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) | |
17 | g.47221803G>A | CA8622741 | MYL4 | c.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 |
17 | g.47221803G>C | CA400022529 | MYL4 | c.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 |
17 | g.47221803G= | CA2262577628 | MYL4 | c.435G= (p.Glu145=) c.146G= c.*221G= (n.*221G=) c.*37G= (n.*37G=) c.225G= (p.Glu75=) c.528G= (p.Glu176=) | |
17 | g.47221803G>T | CA400022530 | MYL4 | c.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) | |
17 | g.47221804A>C | CA400022533 | MYL4 | c.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) | |
17 | g.47221804A>G | CA400022535 | MYL4 | c.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) | |
17 | g.47221804A>T | CA400022536 | MYL4 | c.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) | |
17 | g.47221805G>A | CA8622742 | MYL4 | c.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 |
17 | g.47221805G>C | CA400022539 | MYL4 | c.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) | |
17 | g.47221805G= | CA2262577629 | MYL4 | c.437G= (p.Ser146=) c.148G= c.*223G= (n.*223G=) c.*39G= (n.*39G=) c.227G= (p.Ser76=) c.530G= (p.Ser177=) | |
17 | g.47221805G>T | CA400022541 | MYL4 | c.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) | |
17 | g.47221806C>A | CA400022544 | MYL4 | c.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) | |
17 | g.47221806C>G | CA400022545 | MYL4 | c.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) | |
17 | g.47221806C>T | CA500434001 | MYL4 | c.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=) | |
17 | g.47221807A>C | CA400022552 | MYL4 | c.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) | |
17 | g.47221807A>G | CA400022550 | MYL4 | c.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 |
17 | g.47221807A>T | CA400022548 | MYL4 | c.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) | |
17 | g.47221808A>C | CA400022554 | MYL4 | c.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) | |
17 | g.47221808A>G | CA400022556 | MYL4 | c.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) | |
17 | g.47221808A>T | CA400022558 | MYL4 | c.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) | |
17 | g.47221809T>A | CA400022560 | MYL4 | c.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) | |
17 | g.47221809T>C | CA500434006 | MYL4 | c.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 |
17 | g.47221809T>G | CA400022562 | MYL4 | c.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) | |
17 | g.47221809T= | CA2262577630 | MYL4 | c.441T= (p.Asn147=) c.152T= c.*227T= (n.*227T=) c.*43T= (n.*43T=) c.231T= (p.Asn77=) c.534T= (p.Asn178=) | |
17 | g.47221810G>A | CA400022564 | MYL4 | c.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) | |
17 | g.47221810G>C | CA400022566 | MYL4 | c.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) | |
17 | g.47221810G>T | CA400022568 | MYL4 | c.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) | |
17 | g.47221811G>A | CA400022570 | MYL4 | c.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 |
17 | g.47221811G>C | CA400022572 | MYL4 | c.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) | |
17 | g.47221811G= | CA2262577631 | MYL4 | c.443G= (p.Gly148=) c.154G= c.*229G= (n.*229G=) c.*45G= (n.*45G=) c.233G= (p.Gly78=) c.536G= (p.Gly179=) | |
17 | g.47221811G>T | CA400022574 | MYL4 | c.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 |
17 | g.47221812C>A | CA500434012 | MYL4 | c.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=) | |
17 | g.47221812C>G | CA500434014 | MYL4 | c.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=) | |
17 | g.47221812C>T | CA500434015 | MYL4 | c.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=) | |
17 | g.47221813A= | CA2262577632 | MYL4 | c.445A= (p.Thr149=) c.156A= c.*231A= (n.*231A=) c.*47A= (n.*47A=) c.235A= (p.Thr79=) c.538A= (p.Thr180=) | |
17 | g.47221813A>C | CA400022577 | MYL4 | c.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) | |
17 | g.47221813A>G | CA400022579 | MYL4 | c.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) | |
17 | g.47221813A>T | CA400022581 | MYL4 | c.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 |
17 | g.47221814C>A | CA400022586 | MYL4 | c.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) | |
17 | g.47221814C= | CA2262577633 | MYL4 | c.446C= (p.Thr149=) c.157C= c.*232C= (n.*232C=) c.*48C= (n.*48C=) c.236C= (p.Thr79=) c.539C= (p.Thr180=) | |
17 | g.47221814C>G | CA400022588 | MYL4 | c.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) | |
17 | g.47221814C>T | CA8622743 | MYL4 | c.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 |
17 | g.47221815G>A | CA8622744 | MYL4 | c.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 |
17 | g.47221815G>C | CA500434021 | MYL4 | c.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=) | |
17 | g.47221815G= | CA2262577634 | MYL4 | c.447G= (p.Thr149=) c.158G= c.*233G= (n.*233G=) c.*49G= (n.*49G=) c.237G= (p.Thr79=) c.540G= (p.Thr180=) | |
17 | g.47221815G>T | CA500434018 | MYL4 | c.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 |
17 | g.47221816G>A | CA400022592 | MYL4 | c.448G>A (p.Val150Ile) c.159G>A c.*234G>A (n.*234G>A) c.*50G>A (n.*50G>A) c.238G>A (p.Val80Ile) c.541G>A (p.Val181Ile) | ClinVar |
17 | g.47221816G>C | CA400022596 | MYL4 | c.448G>C (p.Val150Leu) c.159G>C c.*234G>C (n.*234G>C) c.*50G>C (n.*50G>C) c.238G>C (p.Val80Leu) c.541G>C (p.Val181Leu) | |
17 | g.47221816G= | CA2262577635 | MYL4 | c.448G= (p.Val150=) c.159G= c.*234G= (n.*234G=) c.*50G= (n.*50G=) c.238G= (p.Val80=) c.541G= (p.Val181=) | |
17 | g.47221816G>T | CA400022594 | MYL4 | c.448G>T (p.Val150Phe) c.159G>T c.*234G>T (n.*234G>T) c.*50G>T (n.*50G>T) c.238G>T (p.Val80Phe) c.541G>T (p.Val181Phe) | dbSNP |
17 | g.47221817T>A | CA400022599 | MYL4 | c.449T>A (p.Val150Asp) c.160T>A c.*235T>A (n.*235T>A) c.*51T>A (n.*51T>A) c.239T>A (p.Val80Asp) c.542T>A (p.Val181Asp) | |
17 | g.47221817T>C | CA400022602 | MYL4 | c.449T>C (p.Val150Ala) c.160T>C c.*235T>C (n.*235T>C) c.*51T>C (n.*51T>C) c.239T>C (p.Val80Ala) c.542T>C (p.Val181Ala) | |
17 | g.47221817T>G | CA400022601 | MYL4 | c.449T>G (p.Val150Gly) c.160T>G c.*235T>G (n.*235T>G) c.*51T>G (n.*51T>G) c.239T>G (p.Val80Gly) c.542T>G (p.Val181Gly) | |
17 | g.47221818C>A | CA500434027 | MYL4 | c.450C>A (p.Val150=) c.161C>A c.*236C>A (n.*236C>A) c.*52C>A (n.*52C>A) c.240C>A (p.Val80=) c.543C>A (p.Val181=) | |
17 | g.47221818C>G | CA500434026 | MYL4 | c.450C>G (p.Val150=) c.161C>G c.*236C>G (n.*236C>G) c.*52C>G (n.*52C>G) c.240C>G (p.Val80=) c.543C>G (p.Val181=) | |
17 | g.47221818C>T | CA500434025 | MYL4 | c.450C>T (p.Val150=) c.161C>T c.*236C>T (n.*236C>T) c.*52C>T (n.*52C>T) c.240C>T (p.Val80=) c.543C>T (p.Val181=) | |
17 | g.47221819A>C | CA400022606 | MYL4 | c.451A>C (p.Met151Leu) c.162A>C c.*237A>C (n.*237A>C) c.*53A>C (n.*53A>C) c.241A>C (p.Met81Leu) c.544A>C (p.Met182Leu) | |
17 | g.47221819A>G | CA400022608 | MYL4 | c.451A>G (p.Met151Val) c.162A>G c.*237A>G (n.*237A>G) c.*53A>G (n.*53A>G) c.241A>G (p.Met81Val) c.544A>G (p.Met182Val) | |
17 | g.47221819A>T | CA400022607 | MYL4 | c.451A>T (p.Met151Leu) c.162A>T c.*237A>T (n.*237A>T) c.*53A>T (n.*53A>T) c.241A>T (p.Met81Leu) c.544A>T (p.Met182Leu) | |
17 | g.47221820T>A | CA400022610 | MYL4 | c.452T>A (p.Met151Lys) c.163T>A c.*238T>A (n.*238T>A) c.*54T>A (n.*54T>A) c.242T>A (p.Met81Lys) c.545T>A (p.Met182Lys) | |
17 | g.47221820T>C | CA400022613 | MYL4 | c.452T>C (p.Met151Thr) c.163T>C c.*238T>C (n.*238T>C) c.*54T>C (n.*54T>C) c.242T>C (p.Met81Thr) c.545T>C (p.Met182Thr) | |
17 | g.47221820T>G | CA400022611 | MYL4 | c.452T>G (p.Met151Arg) c.163T>G c.*238T>G (n.*238T>G) c.*54T>G (n.*54T>G) c.242T>G (p.Met81Arg) c.545T>G (p.Met182Arg) | |
17 | g.47221820_47221821delinsTG | CA2262577636 | MYL4 | c.452_453delinsTG (p.Met151=) c.163_164delinsTG c.*238_*239delinsTG (n.*238_*239delinsTG) c.*54_*55delinsTG (n.*54_*55delinsTG) c.242_243delinsTG (p.Met81=) c.545_546delinsTG (p.Met182=) | |
17 | g.47221821G>A | CA400022616 | MYL4 | c.453G>A (p.Met151Ile) c.164G>A c.*239G>A (n.*239G>A) c.*55G>A (n.*55G>A) c.243G>A (p.Met81Ile) c.546G>A (p.Met182Ile) | |
17 | g.47221821G>C | CA400022618 | MYL4 | c.453G>C (p.Met151Ile) c.164G>C c.*239G>C (n.*239G>C) c.*55G>C (n.*55G>C) c.243G>C (p.Met81Ile) c.546G>C (p.Met182Ile) | |
17 | g.47221821G>T | CA400022620 | MYL4 | c.453G>T (p.Met151Ile) c.164G>T c.*239G>T (n.*239G>T) c.*55G>T (n.*55G>T) c.243G>T (p.Met81Ile) c.546G>T (p.Met182Ile) | |
17 | g.47221823del | CA8622745 | MYL4 | c.455del (p.Gly152ValfsTer15) c.166del c.*241del (n.*241del) c.*57del (n.*57del) c.245del (p.Gly82ValfsTer15) c.548del (p.Gly183ValfsTer15) | dbSNP ExAC gnomAD v2 gnomAD v4 |