Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.73196601C>A | CA400883220 | COG1 | c.410C>A (p.Ala137Asp) c.408C>A c.407C>A | |
17 | g.73196601C>G | CA400883219 | COG1 | c.410C>G (p.Ala137Gly) c.408C>G c.407C>G | |
17 | g.73196601C>T | CA400883217 | COG1 | c.410C>T (p.Ala137Val) c.408C>T c.407C>T | |
17 | g.73196602C>A | CA502026262 | COG1 | c.411C>A (p.Ala137=) c.409C>A c.408C>A | |
17 | g.73196602C>G | CA502026263 | COG1 | c.411C>G (p.Ala137=) c.409C>G c.408C>G | |
17 | g.73196602C>T | CA502026264 | COG1 | c.411C>T (p.Ala137=) c.409C>T c.408C>T | |
17 | g.73196603T>A | CA400883221 | COG1 | c.412T>A (p.Ser138Thr) c.410T>A c.409T>A | |
17 | g.73196603T>C | CA400883224 | COG1 | c.412T>C (p.Ser138Pro) c.410T>C c.409T>C | |
17 | g.73196603T>G | CA400883222 | COG1 | c.412T>G (p.Ser138Ala) c.410T>G c.409T>G | |
17 | g.73196604C>A | CA400883227 | COG1 | c.413C>A (p.Ser138Tyr) c.411C>A c.410C>A | |
17 | g.73196604C>G | CA400883231 | COG1 | c.413C>G (p.Ser138Cys) c.411C>G c.410C>G | |
17 | g.73196604C>T | CA400883232 | COG1 | c.413C>T (p.Ser138Phe) c.411C>T c.410C>T | gnomAD v4 |
17 | g.73196605T>A | CA502026265 | COG1 | c.414T>A (p.Ser138=) c.412T>A c.411T>A | |
17 | g.73196605T>C | CA502026266 | COG1 | c.414T>C (p.Ser138=) c.412T>C c.411T>C | |
17 | g.73196605T>G | CA8739959 | COG1 | c.414T>G (p.Ser138=) c.412T>G c.411T>G | dbSNP ExAC gnomAD v2 |
17 | g.73196605T= | CA2274431973 | COG1 | c.414T= (p.Ser138=) c.412T= c.411T= | |
17 | g.73196606C>A | CA400883235 | COG1 | c.415C>A (p.Gln139Lys) c.413C>A c.412C>A | gnomAD v4 |
17 | g.73196606C>G | CA400883236 | COG1 | c.415C>G (p.Gln139Glu) c.413C>G c.412C>G | COSMIC |
17 | g.73196606C>T | CA400883238 | COG1 | c.415C>T (p.Gln139Ter) c.413C>T c.412C>T | |
17 | g.73196606_73196607del | CA502026267 | COG1 | c.415_416del (p.Gln139ValfsTer24) c.413_414del c.412_413del | gnomAD v4 |
17 | g.73196607A= | CA2274431974 | COG1 | c.416A= (p.Gln139=) c.414A= c.413A= | |
17 | g.73196607A>C | CA400883241 | COG1 | c.416A>C (p.Gln139Pro) c.414A>C c.413A>C | |
17 | g.73196607A>G | CA8739960 | COG1 | c.416A>G (p.Gln139Arg) c.414A>G c.413A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73196607A>T | CA400883246 | COG1 | c.416A>T (p.Gln139Leu) c.414A>T c.413A>T | |
17 | g.73196608G>A | CA502026268 | COG1 | c.417G>A (p.Gln139=) c.415G>A c.414G>A | |
17 | g.73196608G>C | CA400883249 | COG1 | c.417G>C (p.Gln139His) c.415G>C c.414G>C | |
17 | g.73196608G>T | CA400883250 | COG1 | c.417G>T (p.Gln139His) c.415G>T c.414G>T | |
17 | g.73196609T>A | CA400883253 | COG1 | c.418T>A (p.Cys140Ser) c.416T>A c.415T>A | |
17 | g.73196609T>C | CA400883251 | COG1 | c.418T>C (p.Cys140Arg) c.416T>C c.415T>C | |
17 | g.73196609T>G | CA400883252 | COG1 | c.418T>G (p.Cys140Gly) c.416T>G c.415T>G | gnomAD v4 |
17 | g.73196610G>A | CA400883255 | COG1 | c.419G>A (p.Cys140Tyr) c.417G>A c.416G>A | |
17 | g.73196610G>C | CA400883256 | COG1 | c.419G>C (p.Cys140Ser) c.417G>C c.416G>C | dbSNP |
17 | g.73196610G= | CA2274431975 | COG1 | c.419G= (p.Cys140=) c.417G= c.416G= | |
17 | g.73196610G>T | CA400883257 | COG1 | c.419G>T (p.Cys140Phe) c.417G>T c.416G>T | |
17 | g.73196611T>A | CA400883260 | COG1 | c.420T>A (p.Cys140Ter) c.418T>A c.417T>A | |
17 | g.73196611T>C | CA502026269 | COG1 | c.420T>C (p.Cys140=) c.418T>C c.417T>C | |
17 | g.73196611T>G | CA400883266 | COG1 | c.420T>G (p.Cys140Trp) c.418T>G c.417T>G | |
17 | g.73196612C>A | CA400883268 | COG1 | c.421C>A (p.Leu141Ile) c.419C>A c.418C>A | |
17 | g.73196612C>G | CA400883271 | COG1 | c.421C>G (p.Leu141Val) c.419C>G c.418C>G | |
17 | g.73196612C>T | CA400883278 | COG1 | c.421C>T (p.Leu141Phe) c.419C>T c.418C>T | |
17 | g.73196613T>A | CA400883280 | COG1 | c.422T>A (p.Leu141His) c.420T>A c.419T>A | |
17 | g.73196613T>C | CA400883282 | COG1 | c.422T>C (p.Leu141Pro) c.420T>C c.419T>C | |
17 | g.73196613T>G | CA400883284 | COG1 | c.422T>G (p.Leu141Arg) c.420T>G c.419T>G | |
17 | g.73196614C>A | CA502026270 | COG1 | c.423C>A (p.Leu141=) c.421C>A c.420C>A | |
17 | g.73196614C= | CA2274431976 | COG1 | c.423C= (p.Leu141=) c.421C= c.420C= | |
17 | g.73196614C>G | CA502026271 | COG1 | c.423C>G (p.Leu141=) c.421C>G c.420C>G | ClinVar gnomAD v4 |
17 | g.73196614C>T | CA8739961 | COG1 | c.423C>T (p.Leu141=) c.421C>T c.420C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73196615C>A | CA400883289 | COG1 | c.424C>A (p.His142Asn) c.422C>A c.421C>A | |
17 | g.73196615C>G | CA400883286 | COG1 | c.424C>G (p.His142Asp) c.422C>G c.421C>G | |
17 | g.73196615C>T | CA400883288 | COG1 | c.424C>T (p.His142Tyr) c.422C>T c.421C>T | gnomAD v4 |
17 | g.73196616A= | CA2274431977 | COG1 | c.425A= (p.His142=) c.423A= c.422A= | |
17 | g.73196616A>C | CA400883293 | COG1 | c.425A>C (p.His142Pro) c.423A>C c.422A>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.73196616A>G | CA400883296 | COG1 | c.425A>G (p.His142Arg) c.423A>G c.422A>G | |
17 | g.73196616A>T | CA400883299 | COG1 | c.425A>T (p.His142Leu) c.423A>T c.422A>T | |
17 | g.73196616_73196617delinsAC | CA2274431978 | COG1 | c.425_426delinsAC (p.His142=) c.423_424delinsAC c.422_423delinsAC | |
17 | g.73196617del | CA627590154 | COG1 | c.426del (p.His142GlnfsTer?) c.424del c.423del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.73196617C>A | CA400883303 | COG1 | c.426C>A (p.His142Gln) c.424C>A c.423C>A | |
17 | g.73196617C= | CA2274431979 | COG1 | c.426C= (p.His142=) c.424C= c.423C= | |
17 | g.73196617C>G | CA400883301 | COG1 | c.426C>G (p.His142Gln) c.424C>G c.423C>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.73196617C>T | CA8739962 | COG1 | c.426C>T (p.His142=) c.424C>T c.423C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196618G>A | CA8739963 | COG1 | c.427G>A (p.Ala143Thr) c.425G>A c.424G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196618G>C | CA400883305 | COG1 | c.427G>C (p.Ala143Pro) c.425G>C c.424G>C | |
17 | g.73196618G= | CA2274431980 | COG1 | c.427G= (p.Ala143=) c.425G= c.424G= | |
17 | g.73196618G>T | CA400883307 | COG1 | c.427G>T (p.Ala143Ser) c.425G>T c.424G>T | gnomAD v4 |
17 | g.73196619C>A | CA400883308 | COG1 | c.428C>A (p.Ala143Asp) c.426C>A c.425C>A | |
17 | g.73196619C>G | CA400883310 | COG1 | c.428C>G (p.Ala143Gly) c.426C>G c.425C>G | |
17 | g.73196619C>T | CA400883312 | COG1 | c.428C>T (p.Ala143Val) c.426C>T c.425C>T | gnomAD v4 |
17 | g.73196620C>A | CA502026274 | COG1 | c.429C>A (p.Ala143=) c.427C>A c.426C>A | |
17 | g.73196620C>G | CA502026273 | COG1 | c.429C>G (p.Ala143=) c.427C>G c.426C>G | |
17 | g.73196620C>T | CA502026272 | COG1 | c.429C>T (p.Ala143=) c.427C>T c.426C>T | |
17 | g.73196624_73196625del | CA2639623133 | COG1 | c.433_434del (p.Gln145AlafsTer18) c.431_432del c.430_431del | gnomAD v4 |
17 | g.73196621A>C | CA400883314 | COG1 | c.430A>C (p.Thr144Pro) c.428A>C c.427A>C | |
17 | g.73196621A>G | CA400883318 | COG1 | c.430A>G (p.Thr144Ala) c.428A>G c.427A>G | |
17 | g.73196621A>T | CA400883316 | COG1 | c.430A>T (p.Thr144Ser) c.428A>T c.427A>T | |
17 | g.73196622C>A | CA400883319 | COG1 | c.431C>A (p.Thr144Lys) c.429C>A c.428C>A | gnomAD v4 |
17 | g.73196622C= | CA2274431981 | COG1 | c.431C= (p.Thr144=) c.429C= c.428C= | |
17 | g.73196622C>G | CA400883321 | COG1 | c.431C>G (p.Thr144Arg) c.429C>G c.428C>G | |
17 | g.73196622C>T | CA400883327 | COG1 | c.431C>T (p.Thr144Ile) c.429C>T c.428C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196623A= | CA2274431982 | COG1 | c.432A= (p.Thr144=) c.430A= c.429A= | |
17 | g.73196623A>C | CA502026275 | COG1 | c.432A>C (p.Thr144=) c.430A>C c.429A>C | |
17 | g.73196623A>G | CA502026276 | COG1 | c.432A>G (p.Thr144=) c.430A>G c.429A>G | |
17 | g.73196623A>T | CA502026277 | COG1 | c.432A>T (p.Thr144=) c.430A>T c.429A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196624C>A | CA400883330 | COG1 | c.433C>A (p.Gln145Lys) c.431C>A c.430C>A | |
17 | g.73196624C>G | CA400883331 | COG1 | c.433C>G (p.Gln145Glu) c.431C>G c.430C>G | |
17 | g.73196624C>T | CA400883333 | COG1 | c.433C>T (p.Gln145Ter) c.431C>T c.430C>T | COSMIC |
17 | g.73196625A>C | CA400883336 | COG1 | c.434A>C (p.Gln145Pro) c.432A>C c.431A>C | |
17 | g.73196625A>G | CA400883338 | COG1 | c.434A>G (p.Gln145Arg) c.432A>G c.431A>G | |
17 | g.73196625A>T | CA400883340 | COG1 | c.434A>T (p.Gln145Leu) c.432A>T c.431A>T | |
17 | g.73196626G>A | CA502026278 | COG1 | c.435G>A (p.Gln145=) c.433G>A c.432G>A | |
17 | g.73196626G>C | CA400883341 | COG1 | c.435G>C (p.Gln145His) c.433G>C c.432G>C | |
17 | g.73196626G>T | CA400883342 | COG1 | c.435G>T (p.Gln145His) c.433G>T c.432G>T | |
17 | g.73196627C>A | CA400883345 | COG1 | c.436C>A (p.Leu146Ile) c.434C>A c.433C>A | |
17 | g.73196627C= | CA2274431983 | COG1 | c.436C= (p.Leu146=) c.434C= c.433C= | |
17 | g.73196627C>G | CA400883348 | COG1 | c.436C>G (p.Leu146Val) c.434C>G c.433C>G | gnomAD v4 |
17 | g.73196627C>T | CA400883344 | COG1 | c.436C>T (p.Leu146Phe) c.434C>T c.433C>T | dbSNP gnomAD v4 |
17 | g.73196628T>A | CA400883353 | COG1 | c.437T>A (p.Leu146His) c.435T>A c.434T>A | |
17 | g.73196628T>C | CA400883350 | COG1 | c.437T>C (p.Leu146Pro) c.435T>C c.434T>C | |
17 | g.73196628T>G | CA400883351 | COG1 | c.437T>G (p.Leu146Arg) c.435T>G c.434T>G | |
17 | g.73196629C>A | CA502026279 | COG1 | c.438C>A (p.Leu146=) c.436C>A c.435C>A | |
17 | g.73196629C= | CA2274431984 | COG1 | c.438C= (p.Leu146=) c.436C= c.435C= | |
17 | g.73196629C>G | CA502026280 | COG1 | c.438C>G (p.Leu146=) c.436C>G c.435C>G | dbSNP |
17 | g.73196629C>T | CA502026281 | COG1 | c.438C>T (p.Leu146=) c.436C>T c.435C>T | |
17 | g.73196630T>A | CA400883354 | COG1 | c.439T>A (p.Tyr147Asn) c.437T>A c.436T>A | |
17 | g.73196630T>C | CA400883355 | COG1 | c.439T>C (p.Tyr147His) c.437T>C c.436T>C | |
17 | g.73196630T>G | CA400883357 | COG1 | c.439T>G (p.Tyr147Asp) c.437T>G c.436T>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.73196630T= | CA2274431985 | COG1 | c.439T= (p.Tyr147=) c.437T= c.436T= | |
17 | g.73196631A= | CA2274431986 | COG1 | c.440A= (p.Tyr147=) c.438A= c.437A= | |
17 | g.73196631A>C | CA400883358 | COG1 | c.440A>C (p.Tyr147Ser) c.438A>C c.437A>C | dbSNP |
17 | g.73196631A>G | CA400883360 | COG1 | c.440A>G (p.Tyr147Cys) c.438A>G c.437A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.73196631A>T | CA400883362 | COG1 | c.440A>T (p.Tyr147Phe) c.438A>T c.437A>T | |
17 | g.73196632C>A | CA400883364 | COG1 | c.441C>A (p.Tyr147Ter) c.439C>A c.438C>A | dbSNP |
17 | g.73196632C= | CA2274431987 | COG1 | c.441C= (p.Tyr147=) c.439C= c.438C= | |
17 | g.73196632C>G | CA400883366 | COG1 | c.441C>G (p.Tyr147Ter) c.439C>G c.438C>G | |
17 | g.73196632C>T | CA502026282 | COG1 | c.441C>T (p.Tyr147=) c.439C>T c.438C>T | |
17 | g.73196633C>A | CA400883369 | COG1 | c.442C>A (p.Leu148Met) c.440C>A c.439C>A | |
17 | g.73196633C>G | CA400883371 | COG1 | c.442C>G (p.Leu148Val) c.440C>G c.439C>G | |
17 | g.73196633C>T | CA502026283 | COG1 | c.442C>T (p.Leu148=) c.440C>T c.439C>T | gnomAD v4 |
17 | g.73196634T>A | CA400883373 | COG1 | c.443T>A (p.Leu148Gln) c.441T>A c.440T>A | |
17 | g.73196634T>C | CA400883374 | COG1 | c.443T>C (p.Leu148Pro) c.441T>C c.440T>C | |
17 | g.73196634T>G | CA400883376 | COG1 | c.443T>G (p.Leu148Arg) c.441T>G c.440T>G | |
17 | g.73196635G>A | CA502026286 | COG1 | c.444G>A (p.Leu148=) c.442G>A c.441G>A | |
17 | g.73196635G>C | CA502026285 | COG1 | c.444G>C (p.Leu148=) c.442G>C c.441G>C | |
17 | g.73196635G>T | CA502026284 | COG1 | c.444G>T (p.Leu148=) c.442G>T c.441G>T | |
17 | g.73196636C>A | CA400883378 | COG1 | c.445C>A (p.Leu149Ile) c.443C>A c.442C>A | |
17 | g.73196636C= | CA2274431988 | COG1 | c.445C= (p.Leu149=) c.443C= c.442C= | |
17 | g.73196636C>G | CA400883381 | COG1 | c.445C>G (p.Leu149Val) c.443C>G c.442C>G | |
17 | g.73196636C>T | CA8739964 | COG1 | c.445C>T (p.Leu149Phe) c.443C>T c.442C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196637T>A | CA400883383 | COG1 | c.446T>A (p.Leu149His) c.444T>A c.443T>A | |
17 | g.73196637T>C | CA400883384 | COG1 | c.446T>C (p.Leu149Pro) c.444T>C c.443T>C | gnomAD v4 |
17 | g.73196637T>G | CA400883386 | COG1 | c.446T>G (p.Leu149Arg) c.444T>G c.443T>G | |
17 | g.73196638C>A | CA502026141 | COG1 | c.447C>A (p.Leu149=) c.445C>A c.444C>A | |
17 | g.73196638C= | CA2274431989 | COG1 | c.447C= (p.Leu149=) c.445C= c.444C= | |
17 | g.73196638C>G | CA502026140 | COG1 | c.447C>G (p.Leu149=) c.445C>G c.444C>G | |
17 | g.73196638C>T | CA502026139 | COG1 | c.447C>T (p.Leu149=) c.445C>T c.444C>T | dbSNP gnomAD v2 |
17 | g.73196639T>A | CA8739965 | COG1 | c.448T>A (p.Cys150Ser) c.446T>A c.445T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73196639T>C | CA400883392 | COG1 | c.448T>C (p.Cys150Arg) c.446T>C c.445T>C | |
17 | g.73196639T>G | CA400883394 | COG1 | c.448T>G (p.Cys150Gly) c.446T>G c.445T>G | |
17 | g.73196639T= | CA2274431990 | COG1 | c.448T= (p.Cys150=) c.446T= c.445T= | |
17 | g.73196640G>A | CA400883396 | COG1 | c.449G>A (p.Cys150Tyr) c.447G>A c.446G>A | |
17 | g.73196640G>C | CA400883398 | COG1 | c.449G>C (p.Cys150Ser) c.447G>C c.446G>C | |
17 | g.73196640G>T | CA400883400 | COG1 | c.449G>T (p.Cys150Phe) c.447G>T c.446G>T | |
17 | g.73196641C>A | CA400883402 | COG1 | c.450C>A (p.Cys150Ter) c.448C>A c.447C>A | |
17 | g.73196641C>G | CA400883403 | COG1 | c.450C>G (p.Cys150Trp) c.448C>G c.447C>G | |
17 | g.73196641C>T | CA502026142 | COG1 | c.450C>T (p.Cys150=) c.448C>T c.447C>T | |
17 | g.73196642T>A | CA400883405 | COG1 | c.451T>A (p.Cys151Ser) c.449T>A c.448T>A | |
17 | g.73196642T>C | CA400883409 | COG1 | c.451T>C (p.Cys151Arg) c.449T>C c.448T>C | |
17 | g.73196642T>G | CA400883407 | COG1 | c.451T>G (p.Cys151Gly) c.449T>G c.448T>G | COSMIC |
17 | g.73196643G>A | CA400883411 | COG1 | c.452G>A (p.Cys151Tyr) c.450G>A c.449G>A | |
17 | g.73196643G>C | CA400883413 | COG1 | c.452G>C (p.Cys151Ser) c.450G>C c.449G>C | |
17 | g.73196643G>T | CA400883415 | COG1 | c.452G>T (p.Cys151Phe) c.450G>T c.449G>T | |
17 | g.73196644C>A | CA400883417 | COG1 | c.453C>A (p.Cys151Ter) c.451C>A c.450C>A | |
17 | g.73196644C>G | CA400883419 | COG1 | c.453C>G (p.Cys151Trp) c.451C>G c.450C>G | |
17 | g.73196644C>T | CA502026143 | COG1 | c.453C>T (p.Cys151=) c.451C>T c.450C>T | |
17 | g.73196645C>A | CA400883421 | COG1 | c.454C>A (p.His152Asn) c.452C>A c.451C>A | |
17 | g.73196645C= | CA2274431991 | COG1 | c.454C= (p.His152=) c.452C= c.451C= | |
17 | g.73196645C>G | CA400883422 | COG1 | c.454C>G (p.His152Asp) c.452C>G c.451C>G | |
17 | g.73196645C>T | CA8739966 | COG1 | c.454C>T (p.His152Tyr) c.452C>T c.451C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196646A= | CA2274431992 | COG1 | c.455A= (p.His152=) c.453A= c.452A= | |
17 | g.73196646A>C | CA400883424 | COG1 | c.455A>C (p.His152Pro) c.453A>C c.452A>C | dbSNP |
17 | g.73196646A>G | CA400883426 | COG1 | c.455A>G (p.His152Arg) c.453A>G c.452A>G | |
17 | g.73196646A>T | CA400883428 | COG1 | c.455A>T (p.His152Leu) c.453A>T c.452A>T | |
17 | g.73196646dup | CA774876263 | COG1 | c.455dup (p.His152GlnfsTer12) c.453dup c.452dup | dbSNP |
17 | g.73196647C>A | CA400883430 | COG1 | c.456C>A (p.His152Gln) c.454C>A c.453C>A | |
17 | g.73196647C>G | CA400883431 | COG1 | c.456C>G (p.His152Gln) c.454C>G c.453C>G | |
17 | g.73196647C>T | CA502026144 | COG1 | c.456C>T (p.His152=) c.454C>T c.453C>T | gnomAD v4 |
17 | g.73196648C>A | CA400883434 | COG1 | c.457C>A (p.Leu153Ile) c.455C>A c.454C>A | |
17 | g.73196648C= | CA2274431993 | COG1 | c.457C= (p.Leu153=) c.455C= c.454C= | |
17 | g.73196648C>G | CA400883436 | COG1 | c.457C>G (p.Leu153Val) c.455C>G c.454C>G | |
17 | g.73196648C>T | CA8739967 | COG1 | c.457C>T (p.Leu153Phe) c.455C>T c.454C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73196649T>A | CA400883439 | COG1 | c.458T>A (p.Leu153His) c.456T>A c.455T>A | |
17 | g.73196649T>C | CA400883440 | COG1 | c.458T>C (p.Leu153Pro) c.456T>C c.455T>C | |
17 | g.73196649T>G | CA400883441 | COG1 | c.458T>G (p.Leu153Arg) c.456T>G c.455T>G | |
17 | g.73196650C>A | CA502026145 | COG1 | c.459C>A (p.Leu153=) c.457C>A c.456C>A | |
17 | g.73196650C>G | CA502026146 | COG1 | c.459C>G (p.Leu153=) c.457C>G c.456C>G | |
17 | g.73196650C>T | CA502026147 | COG1 | c.459C>T (p.Leu153=) c.457C>T c.456C>T | |
17 | g.73196650_73196652delinsCCA | CA2274431994 | COG1 | c.459_461delinsCCA (p.Leu153=) c.457_459delinsCCA c.456_458delinsCCA | |
17 | g.73196651C>A | CA400883442 | COG1 | c.460C>A (p.His154Asn) c.458C>A c.457C>A | |
17 | g.73196651C>G | CA400883443 | COG1 | c.460C>G (p.His154Asp) c.458C>G c.457C>G | |
17 | g.73196651C>T | CA400883444 | COG1 | c.460C>T (p.His154Tyr) c.458C>T c.457C>T | |
17 | g.73196653_73196654del | CA627590155 | COG1 | c.462_463del (p.His154GlnfsTer9) c.460_461del c.459_460del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.73196652A>C | CA400883445 | COG1 | c.461A>C (p.His154Pro) c.459A>C c.458A>C | |
17 | g.73196652A>G | CA400883446 | COG1 | c.461A>G (p.His154Arg) c.459A>G c.458A>G | COSMIC |
17 | g.73196652A>T | CA400883448 | COG1 | c.461A>T (p.His154Leu) c.459A>T c.458A>T | gnomAD v4 |
17 | g.73196653C>A | CA8739968 | COG1 | c.462C>A (p.His154Gln) c.460C>A c.459C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196653C= | CA2274431995 | COG1 | c.462C= (p.His154=) c.460C= c.459C= | |
17 | g.73196653C>G | CA400883452 | COG1 | c.462C>G (p.His154Gln) c.460C>G c.459C>G | |
17 | g.73196653C>T | CA502026148 | COG1 | c.462C>T (p.His154=) c.460C>T c.459C>T | |
17 | g.73196654A>C | CA400883458 | COG1 | c.463A>C (p.Ser155Arg) c.461A>C c.460A>C | |
17 | g.73196654A>G | CA400883460 | COG1 | c.463A>G (p.Ser155Gly) c.461A>G c.460A>G | |
17 | g.73196654A>T | CA400883455 | COG1 | c.463A>T (p.Ser155Cys) c.461A>T c.460A>T | |
17 | g.73196655G>A | CA400883467 | COG1 | c.464G>A (p.Ser155Asn) c.462G>A c.461G>A | |
17 | g.73196655G>C | CA400883463 | COG1 | c.464G>C (p.Ser155Thr) c.462G>C c.461G>C | |
17 | g.73196655G>T | CA400883465 | COG1 | c.464G>T (p.Ser155Ile) c.462G>T c.461G>T | |
17 | g.73196656C>A | CA8739969 | COG1 | c.465C>A (p.Ser155Arg) c.463C>A c.462C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73196656C= | CA2274431996 | COG1 | c.465C= (p.Ser155=) c.463C= c.462C= | |
17 | g.73196656C>G | CA400883471 | COG1 | c.465C>G (p.Ser155Arg) c.463C>G c.462C>G | |
17 | g.73196656C>T | CA502026149 | COG1 | c.465C>T (p.Ser155=) c.463C>T c.462C>T | |
17 | g.73196657C>A | CA400883474 | COG1 | c.466C>A (p.Leu156Met) c.464C>A c.463C>A | dbSNP |
17 | g.73196657C= | CA2274431997 | COG1 | c.466C= (p.Leu156=) c.464C= c.463C= | |
17 | g.73196657C>G | CA400883475 | COG1 | c.466C>G (p.Leu156Val) c.464C>G c.463C>G | |
17 | g.73196657C>T | CA502026150 | COG1 | c.466C>T (p.Leu156=) c.464C>T c.463C>T | ClinVar dbSNP |
17 | g.73196658T>A | CA400883479 | COG1 | c.467T>A (p.Leu156Gln) c.465T>A c.464T>A | |
17 | g.73196658T>C | CA400883481 | COG1 | c.467T>C (p.Leu156Pro) c.465T>C c.464T>C | |
17 | g.73196658T>G | CA400883483 | COG1 | c.467T>G (p.Leu156Arg) c.465T>G c.464T>G | |
17 | g.73196659G>A | CA502026151 | COG1 | c.468G>A (p.Leu156=) c.466G>A c.465G>A | dbSNP gnomAD v4 |
17 | g.73196659G>C | CA502026152 | COG1 | c.468G>C (p.Leu156=) c.466G>C c.465G>C | |
17 | g.73196659G= | CA2274431998 | COG1 | c.468G= (p.Leu156=) c.466G= c.465G= | |
17 | g.73196659G>T | CA502026153 | COG1 | c.468G>T (p.Leu156=) c.466G>T c.465G>T | |
17 | g.73196660C>A | CA400883486 | COG1 | c.469C>A (p.Leu157Ile) c.467C>A c.466C>A | |
17 | g.73196660C>G | CA400883488 | COG1 | c.469C>G (p.Leu157Val) c.467C>G c.466C>G | |
17 | g.73196660C>T | CA400883489 | COG1 | c.469C>T (p.Leu157Phe) c.467C>T c.466C>T | |
17 | g.73196661T>A | CA400883498 | COG1 | c.470T>A (p.Leu157His) c.468T>A c.467T>A | |
17 | g.73196661T>C | CA400883495 | COG1 | c.470T>C (p.Leu157Pro) c.468T>C c.467T>C | gnomAD v4 |
17 | g.73196661T>G | CA400883492 | COG1 | c.470T>G (p.Leu157Arg) c.468T>G c.467T>G | |
17 | g.73196662C>A | CA502026154 | COG1 | c.471C>A (p.Leu157=) c.469C>A c.468C>A | |
17 | g.73196662C>G | CA502026155 | COG1 | c.471C>G (p.Leu157=) c.469C>G c.468C>G | gnomAD v4 |
17 | g.73196662C>T | CA502026156 | COG1 | c.471C>T (p.Leu157=) c.469C>T c.468C>T | |
17 | g.73196663C>A | CA400883503 | COG1 | c.472C>A (p.Gln158Lys) c.470C>A c.469C>A | |
17 | g.73196663C= | CA2274431999 | COG1 | c.472C= (p.Gln158=) c.470C= c.469C= | |
17 | g.73196663C>G | CA400883508 | COG1 | c.472C>G (p.Gln158Glu) c.470C>G c.469C>G | |
17 | g.73196663C>T | CA400883509 | COG1 | c.472C>T (p.Gln158Ter) c.470C>T c.469C>T | |
17 | g.73196664A>C | CA400883512 | COG1 | c.473A>C (p.Gln158Pro) c.471A>C c.470A>C | |
17 | g.73196664A>G | CA400883515 | COG1 | c.473A>G (p.Gln158Arg) c.471A>G c.470A>G | |
17 | g.73196664A>T | CA400883518 | COG1 | c.473A>T (p.Gln158Leu) c.471A>T c.470A>T | |
17 | g.73196664dup | CA986116778 | COG1 | c.473dup (p.Leu159AlafsTer5) c.471dup c.470dup | dbSNP gnomAD v3 gnomAD v4 |
17 | g.73196665G>A | CA502026157 | COG1 | c.474G>A (p.Gln158=) c.472G>A c.471G>A | |
17 | g.73196665G>C | CA400883522 | COG1 | c.474G>C (p.Gln158His) c.472G>C c.471G>C | gnomAD v4 |
17 | g.73196665G>T | CA400883525 | COG1 | c.474G>T (p.Gln158His) c.472G>T c.471G>T | |
17 | g.73196666C>A | CA400883526 | COG1 | c.475C>A (p.Leu159Met) c.473C>A c.472C>A | |
17 | g.73196666C= | CA2274432000 | COG1 | c.475C= (p.Leu159=) c.473C= c.472C= | |
17 | g.73196666C>G | CA400883528 | COG1 | c.475C>G (p.Leu159Val) c.473C>G c.472C>G | dbSNP |
17 | g.73196666C>T | CA502026161 | COG1 | c.475C>T (p.Leu159=) c.473C>T c.472C>T | |
17 | g.73196667T>A | CA400883542 | COG1 | c.476T>A (p.Leu159Gln) c.474T>A c.473T>A | |
17 | g.73196667T>C | CA400883545 | COG1 | c.476T>C (p.Leu159Pro) c.474T>C c.473T>C | gnomAD v4 |
17 | g.73196667T>G | CA400883549 | COG1 | c.476T>G (p.Leu159Arg) c.474T>G c.473T>G | |
17 | g.73196668G>A | CA502026162 | COG1 | c.477G>A (p.Leu159=) c.475G>A c.474G>A | gnomAD v4 |
17 | g.73196668G>C | CA502026164 | COG1 | c.477G>C (p.Leu159=) c.475G>C c.474G>C | |
17 | g.73196668G>T | CA502026163 | COG1 | c.477G>T (p.Leu159=) c.475G>T c.474G>T | |
17 | g.73196669G>A | CA400883556 | COG1 | c.478G>A (p.Asp160Asn) c.476G>A c.475G>A | |
17 | g.73196669G>C | CA400883562 | COG1 | c.478G>C (p.Asp160His) c.476G>C c.475G>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.73196669G= | CA2274432001 | COG1 | c.478G= (p.Asp160=) c.476G= c.475G= | |
17 | g.73196669G>T | CA400883554 | COG1 | c.478G>T (p.Asp160Tyr) c.476G>T c.475G>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.73196670A= | CA2274432002 | COG1 | c.479A= (p.Asp160=) c.477A= c.476A= | |
17 | g.73196670A>C | CA400883567 | COG1 | c.479A>C (p.Asp160Ala) c.477A>C c.476A>C | dbSNP gnomAD v4 |
17 | g.73196670A>G | CA400883570 | COG1 | c.479A>G (p.Asp160Gly) c.477A>G c.476A>G | |
17 | g.73196670A>T | CA400883573 | COG1 | c.479A>T (p.Asp160Val) c.477A>T c.476A>T | |
17 | g.73196671T>A | CA400883577 | COG1 | c.480T>A (p.Asp160Glu) c.478T>A c.477T>A | |
17 | g.73196671T>C | CA502026166 | COG1 | c.480T>C (p.Asp160=) c.478T>C c.477T>C | |
17 | g.73196671T>G | CA400883580 | COG1 | c.480T>G (p.Asp160Glu) c.478T>G c.477T>G | |
17 | g.73196672del | CA2734170128 | COG1 | c.481del (p.Ser161LeufsTer?) c.479del c.478del | dbSNP |
17 | g.73196672T>A | CA400883584 | COG1 | c.481T>A (p.Ser161Thr) c.479T>A c.478T>A | |
17 | g.73196672T>C | CA400883587 | COG1 | c.481T>C (p.Ser161Pro) c.479T>C c.478T>C | dbSNP |
17 | g.73196672T>G | CA400883596 | COG1 | c.481T>G (p.Ser161Ala) c.479T>G c.478T>G | |
17 | g.73196672T= | CA2274432003 | COG1 | c.481T= (p.Ser161=) c.479T= c.478T= | |
17 | g.73196673C>A | CA400883602 | COG1 | c.482C>A (p.Ser161Tyr) c.480C>A c.479C>A | |
17 | g.73196673C= | CA2274432004 | COG1 | c.482C= (p.Ser161=) c.480C= c.479C= | |
17 | g.73196673C>G | CA400883606 | COG1 | c.482C>G (p.Ser161Cys) c.480C>G c.479C>G | |
17 | g.73196673C>T | CA400883609 | COG1 | c.482C>T (p.Ser161Phe) c.480C>T c.479C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.73196674T>A | CA502026168 | COG1 | c.483T>A (p.Ser161=) c.481T>A c.480T>A | |
17 | g.73196674T>C | CA502026169 | COG1 | c.483T>C (p.Ser161=) c.481T>C c.480T>C | |
17 | g.73196674T>G | CA502026170 | COG1 | c.483T>G (p.Ser161=) c.481T>G c.480T>G | |
17 | g.73196675T>A | CA400883613 | COG1 | c.484T>A (p.Ser162Thr) c.482T>A c.481T>A | |
17 | g.73196675T>C | CA8739970 | COG1 | c.484T>C (p.Ser162Pro) c.482T>C c.481T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196675T>G | CA400883619 | COG1 | c.484T>G (p.Ser162Ala) c.482T>G c.481T>G | |
17 | g.73196675T= | CA2274432005 | COG1 | c.484T= (p.Ser162=) c.482T= c.481T= | |
17 | g.73196676C>A | CA400883632 | COG1 | c.485C>A (p.Ser162Tyr) c.483C>A c.482C>A | |
17 | g.73196676C>G | CA400883628 | COG1 | c.485C>G (p.Ser162Cys) c.483C>G c.482C>G | |
17 | g.73196676C>T | CA400883625 | COG1 | c.485C>T (p.Ser162Phe) c.483C>T c.482C>T | |
17 | g.73196677T>A | CA502026173 | COG1 | c.486T>A (p.Ser162=) c.484T>A c.483T>A | |
17 | g.73196677T>C | CA502026174 | COG1 | c.486T>C (p.Ser162=) c.484T>C c.483T>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.73196677T>G | CA502026175 | COG1 | c.486T>G (p.Ser162=) c.484T>G c.483T>G | gnomAD v4 |
17 | g.73196677T= | CA2274432006 | COG1 | c.486T= (p.Ser162=) c.484T= c.483T= | |
17 | g.73196678A>C | CA400883635 | COG1 | c.487A>C (p.Ser163Arg) c.485A>C c.484A>C | |
17 | g.73196678A>G | CA400883638 | COG1 | c.487A>G (p.Ser163Gly) c.485A>G c.484A>G | |
17 | g.73196678A>T | CA400883640 | COG1 | c.487A>T (p.Ser163Cys) c.485A>T c.484A>T | |
17 | g.73196679G>A | CA400883645 | COG1 | c.488G>A (p.Ser163Asn) c.486G>A c.485G>A | gnomAD v4 |
17 | g.73196679G>C | CA400883648 | COG1 | c.488G>C (p.Ser163Thr) c.486G>C c.485G>C | |
17 | g.73196679G>T | CA400883651 | COG1 | c.488G>T (p.Ser163Ile) c.486G>T c.485G>T | |
17 | g.73196680T>A | CA400883655 | COG1 | c.489T>A (p.Ser163Arg) c.487T>A c.486T>A | |
17 | g.73196680T>C | CA502026179 | COG1 | c.489T>C (p.Ser163=) c.487T>C c.486T>C | gnomAD v4 |
17 | g.73196680T>G | CA400883659 | COG1 | c.489T>G (p.Ser163Arg) c.487T>G c.486T>G | |
17 | g.73196681T>A | CA400883663 | COG1 | c.490T>A (p.Ser164Thr) c.488T>A c.487T>A | |
17 | g.73196681T>C | CA400883664 | COG1 | c.490T>C (p.Ser164Pro) c.488T>C c.487T>C | |
17 | g.73196681T>G | CA400883666 | COG1 | c.490T>G (p.Ser164Ala) c.488T>G c.487T>G | |
17 | g.73196682C>A | CA400883670 | COG1 | c.491C>A (p.Ser164Tyr) c.489C>A c.488C>A | |
17 | g.73196682C>G | CA400883672 | COG1 | c.491C>G (p.Ser164Cys) c.489C>G c.488C>G | |
17 | g.73196682C>T | CA400883676 | COG1 | c.491C>T (p.Ser164Phe) c.489C>T c.488C>T | gnomAD v4 |
17 | g.73196683C>A | CA502026180 | COG1 | c.492C>A (p.Ser164=) c.490C>A c.489C>A | |
17 | g.73196683C>G | CA502026181 | COG1 | c.492C>G (p.Ser164=) c.490C>G c.489C>G | |
17 | g.73196683C>T | CA502026182 | COG1 | c.492C>T (p.Ser164=) c.490C>T c.489C>T | |
17 | g.73196684C>A | CA502026183 | COG1 | c.493C>A (p.Arg165=) c.491C>A c.490C>A | |
17 | g.73196684C= | CA2274432007 | COG1 | c.493C= (p.Arg165=) c.491C= c.490C= | |
17 | g.73196684C>G | CA400883679 | COG1 | c.493C>G (p.Arg165Gly) c.491C>G c.490C>G | gnomAD v4 |
17 | g.73196684C>T | CA400883682 | COG1 | c.493C>T (p.Arg165Ter) c.491C>T c.490C>T | dbSNP gnomAD v4 COSMIC |
17 | g.73196685G>A | CA8739971 | COG1 | c.494G>A (p.Arg165Gln) c.492G>A c.491G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196685G>C | CA400883698 | COG1 | c.494G>C (p.Arg165Pro) c.492G>C c.491G>C | |
17 | g.73196685G= | CA2274432008 | COG1 | c.494G= (p.Arg165=) c.492G= c.491G= | |
17 | g.73196685G>T | CA8739972 | COG1 | c.494G>T (p.Arg165Leu) c.492G>T c.491G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73196686A>C | CA502026185 | COG1 | c.495A>C (p.Arg165=) c.493A>C c.492A>C | |
17 | g.73196686A>G | CA502026186 | COG1 | c.495A>G (p.Arg165=) c.493A>G c.492A>G | |
17 | g.73196686A>T | CA502026187 | COG1 | c.495A>T (p.Arg165=) c.493A>T c.492A>T | |
17 | g.73196687T>A | CA400883703 | COG1 | c.496T>A (p.Tyr166Asn) c.494T>A c.493T>A | |
17 | g.73196687T>C | CA400883710 | COG1 | c.496T>C (p.Tyr166His) c.494T>C c.493T>C | |
17 | g.73196687T>G | CA400883706 | COG1 | c.496T>G (p.Tyr166Asp) c.494T>G c.493T>G | |
17 | g.73196688A>C | CA400883714 | COG1 | c.497A>C (p.Tyr166Ser) c.495A>C c.494A>C | |
17 | g.73196688A>G | CA400883717 | COG1 | c.497A>G (p.Tyr166Cys) c.495A>G c.494A>G | |
17 | g.73196688A>T | CA400883719 | COG1 | c.497A>T (p.Tyr166Phe) c.495A>T c.494A>T | |
17 | g.73196689_73196690del | CA2576374990 | COG1 | c.498_499del (p.Tyr166Ter) c.496_497del c.495_496del | |
17 | g.73196689C>A | CA400883722 | COG1 | c.498C>A (p.Tyr166Ter) c.496C>A c.495C>A | |
17 | g.73196689C>G | CA400883724 | COG1 | c.498C>G (p.Tyr166Ter) c.496C>G c.495C>G | gnomAD v4 |
17 | g.73196689C>T | CA502026189 | COG1 | c.498C>T (p.Tyr166=) c.496C>T c.495C>T | |
17 | g.73196690del | CA2639623218 | COG1 | c.499del (p.Ser167ValfsTer?) c.497del c.496del | gnomAD v4 |
17 | g.73196690A= | CA2274432009 | COG1 | c.499A= (p.Ser167=) c.497A= c.496A= | |
17 | g.73196690A>C | CA400883735 | COG1 | c.499A>C (p.Ser167Arg) c.497A>C c.496A>C | |
17 | g.73196690A>G | CA400883736 | COG1 | c.499A>G (p.Ser167Gly) c.497A>G c.496A>G | gnomAD v4 |
17 | g.73196690A>T | CA8739973 | COG1 | c.499A>T (p.Ser167Cys) c.497A>T c.496A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73196691G>A | CA400883741 | COG1 | c.500G>A (p.Ser167Asn) c.498G>A c.497G>A | |
17 | g.73196691G>C | CA400883746 | COG1 | c.500G>C (p.Ser167Thr) c.498G>C c.497G>C | |
17 | g.73196691G>T | CA400883749 | COG1 | c.500G>T (p.Ser167Ile) c.498G>T c.497G>T | |
17 | g.73196692T>A | CA400883750 | COG1 | c.501T>A (p.Ser167Arg) c.499T>A c.498T>A | |
17 | g.73196692T>C | CA502026190 | COG1 | c.501T>C (p.Ser167=) c.499T>C c.498T>C | |
17 | g.73196692T>G | CA400883753 | COG1 | c.501T>G (p.Ser167Arg) c.499T>G c.498T>G | |
17 | g.73196693C>A | CA400883761 | COG1 | c.502C>A (p.Pro168Thr) c.500C>A c.499C>A | gnomAD v4 |
17 | g.73196693C>G | CA400883758 | COG1 | c.502C>G (p.Pro168Ala) c.500C>G c.499C>G | |
17 | g.73196693C>T | CA400883755 | COG1 | c.502C>T (p.Pro168Ser) c.500C>T c.499C>T | |
17 | g.73196694C>A | CA400883769 | COG1 | c.503C>A (p.Pro168His) c.501C>A c.500C>A | |
17 | g.73196694C>G | CA400883778 | COG1 | c.503C>G (p.Pro168Arg) c.501C>G c.500C>G | |
17 | g.73196694C>T | CA400883780 | COG1 | c.503C>T (p.Pro168Leu) c.501C>T c.500C>T | |
17 | g.73196695C>A | CA502026192 | COG1 | c.504C>A (p.Pro168=) c.502C>A c.501C>A | |
17 | g.73196695C= | CA2274432010 | COG1 | c.504C= (p.Pro168=) c.502C= c.501C= | |
17 | g.73196695C>G | CA502026193 | COG1 | c.504C>G (p.Pro168=) c.502C>G c.501C>G | |
17 | g.73196695C>T | CA8739974 | COG1 | c.504C>T (p.Pro168=) c.502C>T c.501C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196696G>A | CA8739975 | COG1 | c.505G>A (p.Val169Ile) c.503G>A c.502G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196696G>C | CA400883787 | COG1 | c.505G>C (p.Val169Leu) c.503G>C c.502G>C | gnomAD v4 |
17 | g.73196696G= | CA2274432011 | COG1 | c.505G= (p.Val169=) c.503G= c.502G= | |
17 | g.73196696G>T | CA400883789 | COG1 | c.505G>T (p.Val169Phe) c.503G>T c.502G>T | |
17 | g.73196697T>A | CA400883791 | COG1 | c.506T>A (p.Val169Asp) c.504T>A c.503T>A | |
17 | g.73196697T>C | CA400883793 | COG1 | c.506T>C (p.Val169Ala) c.504T>C c.503T>C | gnomAD v4 |
17 | g.73196697T>G | CA400883796 | COG1 | c.506T>G (p.Val169Gly) c.504T>G c.503T>G | |
17 | g.73196698C>A | CA502026196 | COG1 | c.507C>A (p.Val169=) c.505C>A c.504C>A | gnomAD v4 |
17 | g.73196698C>G | CA502026197 | COG1 | c.507C>G (p.Val169=) c.505C>G c.504C>G | |
17 | g.73196698C>T | CA502026195 | COG1 | c.507C>T (p.Val169=) c.505C>T c.504C>T | |
17 | g.73196699C>A | CA400883807 | COG1 | c.508C>A (p.Leu170Ile) c.506C>A c.505C>A | gnomAD v4 |
17 | g.73196699C>G | CA400883810 | COG1 | c.508C>G (p.Leu170Val) c.506C>G c.505C>G | gnomAD v4 |
17 | g.73196699C>T | CA400883813 | COG1 | c.508C>T (p.Leu170Phe) c.506C>T c.505C>T | |
17 | g.73196700T>A | CA400883825 | COG1 | c.509T>A (p.Leu170His) c.507T>A c.506T>A | |
17 | g.73196700T>C | CA400883829 | COG1 | c.509T>C (p.Leu170Pro) c.507T>C c.506T>C | ClinVar dbSNP gnomAD v4 |
17 | g.73196700T>G | CA400883823 | COG1 | c.509T>G (p.Leu170Arg) c.507T>G c.506T>G | |
17 | g.73196701C>A | CA502026200 | COG1 | c.510C>A (p.Leu170=) c.508C>A c.507C>A | |
17 | g.73196701C= | CA2274432012 | COG1 | c.510C= (p.Leu170=) c.508C= c.507C= | |
17 | g.73196701C>G | CA502026199 | COG1 | c.510C>G (p.Leu170=) c.508C>G c.507C>G | |
17 | g.73196701C>T | CA8739976 | COG1 | c.510C>T (p.Leu170=) c.508C>T c.507C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |