Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2496634T>A | CA10647225 | TBC1D24 | c.486T>A (p.Asn162Lys) n.668T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496634T>C | CA493366773 | TBC1D24 | c.486T>C (p.Asn162=) n.668T>C | |
16 | g.2496634T>G | CA394376212 | TBC1D24 | c.486T>G (p.Asn162Lys) n.668T>G | |
16 | g.2496634T= | CA2202259916 | TBC1D24 | c.486T= (p.Asn162=) n.668T= | |
16 | g.2496635G>A | CA394376214 | TBC1D24 | c.487G>A (p.Asp163Asn) n.669G>A | |
16 | g.2496635G>C | CA394376216 | TBC1D24 | c.487G>C (p.Asp163His) n.669G>C | |
16 | g.2496635G>T | CA394376217 | TBC1D24 | c.487G>T (p.Asp163Tyr) n.669G>T | ClinVar |
16 | g.2496636A>C | CA394376219 | TBC1D24 | c.488A>C (p.Asp163Ala) n.670A>C | |
16 | g.2496636A>G | CA394376221 | TBC1D24 | c.488A>G (p.Asp163Gly) n.670A>G | COSMIC |
16 | g.2496636A>T | CA394376223 | TBC1D24 | c.488A>T (p.Asp163Val) n.670A>T | |
16 | g.2496637C>A | CA394376224 | TBC1D24 | c.489C>A (p.Asp163Glu) n.671C>A | gnomAD v4 |
16 | g.2496637C>G | CA394376225 | TBC1D24 | c.489C>G (p.Asp163Glu) n.671C>G | |
16 | g.2496637C>T | CA493366852 | TBC1D24 | c.489C>T (p.Asp163=) n.671C>T | ClinVar |
16 | g.2496638C>A | CA394376229 | TBC1D24 | c.490C>A (p.Pro164Thr) n.672C>A | |
16 | g.2496638C= | CA2202259917 | TBC1D24 | c.490C= (p.Pro164=) n.672C= | |
16 | g.2496638C>G | CA394376230 | TBC1D24 | c.490C>G (p.Pro164Ala) n.672C>G | |
16 | g.2496638C>T | CA394376233 | TBC1D24 | c.490C>T (p.Pro164Ser) n.672C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496639C>A | CA394376235 | TBC1D24 | c.491C>A (p.Pro164His) n.673C>A | |
16 | g.2496639C>G | CA394376237 | TBC1D24 | c.491C>G (p.Pro164Arg) n.673C>G | |
16 | g.2496639C>T | CA394376238 | TBC1D24 | c.491C>T (p.Pro164Leu) n.673C>T | gnomAD v4 |
16 | g.2496640C>A | CA493366855 | TBC1D24 | c.492C>A (p.Pro164=) n.674C>A | gnomAD v4 |
16 | g.2496640C= | CA2202259918 | TBC1D24 | c.492C= (p.Pro164=) n.674C= | |
16 | g.2496640C>G | CA7844012 | TBC1D24 | c.492C>G (p.Pro164=) n.674C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496640C>T | CA7844011 | TBC1D24 | c.492C>T (p.Pro164=) n.674C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496640_2496641del | CA2544183399 | TBC1D24 | c.492_493del (p.Gly165GlnfsTer12) n.674_675del | |
16 | g.2496641G>A | CA318989 | TBC1D24 | c.493G>A (p.Gly165Ser) n.675G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496641G>C | CA394376243 | TBC1D24 | c.493G>C (p.Gly165Arg) n.675G>C | gnomAD v4 |
16 | g.2496641G= | CA2202259919 | TBC1D24 | c.493G= (p.Gly165=) n.675G= | |
16 | g.2496641G>T | CA394376245 | TBC1D24 | c.493G>T (p.Gly165Cys) n.675G>T | ClinVar dbSNP gnomAD v4 |
16 | g.2496642G>A | CA394376247 | TBC1D24 | c.494G>A (p.Gly165Asp) n.676G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496642G>C | CA394376248 | TBC1D24 | c.494G>C (p.Gly165Ala) n.676G>C | |
16 | g.2496642G= | CA2202259920 | TBC1D24 | c.494G= (p.Gly165=) n.676G= | |
16 | g.2496642G>T | CA394376250 | TBC1D24 | c.494G>T (p.Gly165Val) n.676G>T | gnomAD v4 |
16 | g.2496642_2496643insTC | CA2529358813 | TBC1D24 | c.494_495insTC (p.Arg166ProfsTer4) n.676_677insTC | |
16 | g.2496643C>A | CA493366859 | TBC1D24 | c.495C>A (p.Gly165=) n.677C>A | gnomAD v4 |
16 | g.2496643C= | CA2202259921 | TBC1D24 | c.495C= (p.Gly165=) n.677C= | |
16 | g.2496643C>G | CA7844013 | TBC1D24 | c.495C>G (p.Gly165=) n.677C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496643C>T | CA493366860 | TBC1D24 | c.495C>T (p.Gly165=) n.677C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496644A>C | CA493366861 | TBC1D24 | c.496A>C (p.Arg166=) n.678A>C | |
16 | g.2496644A>G | CA394376254 | TBC1D24 | c.496A>G (p.Arg166Gly) n.678A>G | |
16 | g.2496644A>T | CA394376256 | TBC1D24 | c.496A>T (p.Arg166Trp) n.678A>T | |
16 | g.2496644dup | CA2202259922 | TBC1D24 | c.496dup (p.Arg166LysfsTer12) n.678dup | dbSNP |
16 | g.2496645G>A | CA394376259 | TBC1D24 | c.497G>A (p.Arg166Lys) n.679G>A | |
16 | g.2496645G>C | CA394376261 | TBC1D24 | c.497G>C (p.Arg166Thr) n.679G>C | |
16 | g.2496645G>T | CA394376263 | TBC1D24 | c.497G>T (p.Arg166Met) n.679G>T | |
16 | g.2496646G>A | CA276809627 | TBC1D24 | c.498G>A (p.Arg166=) n.680G>A | dbSNP |
16 | g.2496646G>C | CA394376265 | TBC1D24 | c.498G>C (p.Arg166Ser) n.680G>C | |
16 | g.2496646G= | CA2202259923 | TBC1D24 | c.498G= (p.Arg166=) n.680G= | |
16 | g.2496646G>T | CA394376267 | TBC1D24 | c.498G>T (p.Arg166Ser) n.680G>T | |
16 | g.2496647A= | CA2202259924 | TBC1D24 | c.499A= (p.Arg167=) n.681A= | |
16 | g.2496647A>C | CA7844014 | TBC1D24 | c.499A>C (p.Arg167=) n.681A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496647A>G | CA394376270 | TBC1D24 | c.499A>G (p.Arg167Gly) n.681A>G | |
16 | g.2496647A>T | CA394376272 | TBC1D24 | c.499A>T (p.Arg167Trp) n.681A>T | dbSNP |
16 | g.2496648G>A | CA394376273 | TBC1D24 | c.500G>A (p.Arg167Lys) n.682G>A | |
16 | g.2496648G>C | CA394376274 | TBC1D24 | c.500G>C (p.Arg167Thr) n.682G>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496648G= | CA2202259925 | TBC1D24 | c.500G= (p.Arg167=) n.682G= | |
16 | g.2496648G>T | CA394376275 | TBC1D24 | c.500G>T (p.Arg167Met) n.682G>T | |
16 | g.2496649G>A | CA493366867 | TBC1D24 | c.501G>A (p.Arg167=) n.683G>A | dbSNP gnomAD v2 |
16 | g.2496649G>C | CA394376279 | TBC1D24 | c.501G>C (p.Arg167Ser) n.683G>C | |
16 | g.2496649G= | CA2202259926 | TBC1D24 | c.501G= (p.Arg167=) n.683G= | |
16 | g.2496649G>T | CA394376277 | TBC1D24 | c.501G>T (p.Arg167Ser) n.683G>T | gnomAD v4 |
16 | g.2496650C>A | CA394376281 | TBC1D24 | c.502C>A (p.Leu168Met) n.684C>A | |
16 | g.2496650C>G | CA394376283 | TBC1D24 | c.502C>G (p.Leu168Val) n.684C>G | |
16 | g.2496650C>T | CA493366869 | TBC1D24 | c.502C>T (p.Leu168=) n.684C>T | |
16 | g.2496651T>A | CA394376285 | TBC1D24 | c.503T>A (p.Leu168Gln) n.685T>A | |
16 | g.2496651T>C | CA7844015 | TBC1D24 | c.503T>C (p.Leu168Pro) n.685T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496651T>G | CA394376287 | TBC1D24 | c.503T>G (p.Leu168Arg) n.685T>G | |
16 | g.2496651T= | CA2202259927 | TBC1D24 | c.503T= (p.Leu168=) n.685T= | |
16 | g.2496652G>A | CA493366873 | TBC1D24 | c.504G>A (p.Leu168=) n.686G>A | |
16 | g.2496652G>C | CA493366876 | TBC1D24 | c.504G>C (p.Leu168=) n.686G>C | |
16 | g.2496652G>T | CA493366878 | TBC1D24 | c.504G>T (p.Leu168=) n.686G>T | gnomAD v4 |
16 | g.2496653A= | CA2202259928 | TBC1D24 | c.505A= (p.Ile169=) n.687A= | |
16 | g.2496653A>C | CA394376292 | TBC1D24 | c.505A>C (p.Ile169Leu) n.687A>C | |
16 | g.2496653A>G | CA394376294 | TBC1D24 | c.505A>G (p.Ile169Val) n.687A>G | COSMIC |
16 | g.2496653A>T | CA394376296 | TBC1D24 | c.505A>T (p.Ile169Phe) n.687A>T | |
16 | g.2496654T>A | CA394376297 | TBC1D24 | c.506T>A (p.Ile169Asn) n.688T>A | |
16 | g.2496654T>C | CA394376299 | TBC1D24 | c.506T>C (p.Ile169Thr) n.688T>C | |
16 | g.2496654T>G | CA394376302 | TBC1D24 | c.506T>G (p.Ile169Ser) n.688T>G | |
16 | g.2496655_2496656insCTC | CA2202259929 | TBC1D24 | c.507_508insCTC (p.Ile169_Asp170insLeu) n.689_690insCTC | dbSNP |
16 | g.2496655C>A | CA493366884 | TBC1D24 | c.507C>A (p.Ile169=) n.689C>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496655C= | CA2202259930 | TBC1D24 | c.507C= (p.Ile169=) n.689C= | |
16 | g.2496655C>G | CA7844016 | TBC1D24 | c.507C>G (p.Ile169Met) n.689C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496655C>T | CA493366886 | TBC1D24 | c.507C>T (p.Ile169=) n.689C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496656G>A | CA394376308 | TBC1D24 | c.508G>A (p.Asp170Asn) n.690G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496656G>C | CA394376311 | TBC1D24 | c.508G>C (p.Asp170His) n.690G>C | gnomAD v4 |
16 | g.2496656G= | CA2202259931 | TBC1D24 | c.508G= (p.Asp170=) n.690G= | |
16 | g.2496656G>T | CA394376312 | TBC1D24 | c.508G>T (p.Asp170Tyr) n.690G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496657A>C | CA394376317 | TBC1D24 | c.509A>C (p.Asp170Ala) n.691A>C | |
16 | g.2496657A>G | CA394376319 | TBC1D24 | c.509A>G (p.Asp170Gly) n.691A>G | |
16 | g.2496657A>T | CA394376320 | TBC1D24 | c.509A>T (p.Asp170Val) n.691A>T | |
16 | g.2496658C>A | CA394376322 | TBC1D24 | c.510C>A (p.Asp170Glu) n.692C>A | |
16 | g.2496658C>G | CA394376324 | TBC1D24 | c.510C>G (p.Asp170Glu) n.692C>G | |
16 | g.2496658C>T | CA493366893 | TBC1D24 | c.510C>T (p.Asp170=) n.692C>T | gnomAD v4 |
16 | g.2496659C>A | CA394376327 | TBC1D24 | c.511C>A (p.Gln171Lys) n.693C>A | |
16 | g.2496659C>G | CA394376328 | TBC1D24 | c.511C>G (p.Gln171Glu) n.693C>G | gnomAD v4 |
16 | g.2496659C>T | CA394376330 | TBC1D24 | c.511C>T (p.Gln171Ter) n.693C>T | |
16 | g.2496660A>C | CA394376333 | TBC1D24 | c.512A>C (p.Gln171Pro) n.694A>C | |
16 | g.2496660A>G | CA394376334 | TBC1D24 | c.512A>G (p.Gln171Arg) n.694A>G | |
16 | g.2496660A>T | CA394376337 | TBC1D24 | c.512A>T (p.Gln171Leu) n.694A>T | |
16 | g.2496661G>A | CA493366898 | TBC1D24 | c.513G>A (p.Gln171=) n.695G>A | |
16 | g.2496661G>C | CA394376339 | TBC1D24 | c.513G>C (p.Gln171His) n.695G>C | |
16 | g.2496661G>T | CA394376341 | TBC1D24 | c.513G>T (p.Gln171His) n.695G>T | gnomAD v4 |
16 | g.2496662A>C | CA394376343 | TBC1D24 | c.514A>C (p.Ser172Arg) n.696A>C | |
16 | g.2496662A>G | CA394376345 | TBC1D24 | c.514A>G (p.Ser172Gly) n.696A>G | |
16 | g.2496662A>T | CA394376348 | TBC1D24 | c.514A>T (p.Ser172Cys) n.696A>T | |
16 | g.2496663G>A | CA394376355 | TBC1D24 | c.515G>A (p.Ser172Asn) n.697G>A | |
16 | g.2496663G>C | CA394376353 | TBC1D24 | c.515G>C (p.Ser172Thr) n.697G>C | |
16 | g.2496663G>T | CA394376351 | TBC1D24 | c.515G>T (p.Ser172Ile) n.697G>T | |
16 | g.2496664C>A | CA394376357 | TBC1D24 | c.516C>A (p.Ser172Arg) n.698C>A | |
16 | g.2496664C>G | CA394376358 | TBC1D24 | c.516C>G (p.Ser172Arg) n.698C>G | |
16 | g.2496664C>T | CA493366907 | TBC1D24 | c.516C>T (p.Ser172=) n.698C>T | |
16 | g.2496665T>A | CA394376359 | TBC1D24 | c.517T>A (p.Phe173Ile) n.699T>A | dbSNP |
16 | g.2496665T>C | CA394376360 | TBC1D24 | c.517T>C (p.Phe173Leu) n.699T>C | |
16 | g.2496665T>G | CA394376362 | TBC1D24 | c.517T>G (p.Phe173Val) n.699T>G | |
16 | g.2496665T= | CA2202259932 | TBC1D24 | c.517T= (p.Phe173=) n.699T= | |
16 | g.2496666T>A | CA394376364 | TBC1D24 | c.518T>A (p.Phe173Tyr) n.700T>A | |
16 | g.2496666T>C | CA394376365 | TBC1D24 | c.518T>C (p.Phe173Ser) n.700T>C | |
16 | g.2496666T>G | CA394376366 | TBC1D24 | c.518T>G (p.Phe173Cys) n.700T>G | |
16 | g.2496667C>A | CA394376370 | TBC1D24 | c.519C>A (p.Phe173Leu) n.701C>A | |
16 | g.2496667C= | CA2202259933 | TBC1D24 | c.519C= (p.Phe173=) n.701C= | |
16 | g.2496667C>G | CA394376372 | TBC1D24 | c.519C>G (p.Phe173Leu) n.701C>G | |
16 | g.2496667C>T | CA7844017 | TBC1D24 | c.519C>T (p.Phe173=) n.701C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496668C>A | CA394376377 | TBC1D24 | c.520C>A (p.Leu174Met) n.702C>A | |
16 | g.2496668C>G | CA394376378 | TBC1D24 | c.520C>G (p.Leu174Val) n.702C>G | ClinVar |
16 | g.2496668C>T | CA493366914 | TBC1D24 | c.520C>T (p.Leu174=) n.702C>T | |
16 | g.2496669T>A | CA394376384 | TBC1D24 | c.521T>A (p.Leu174Gln) n.703T>A | |
16 | g.2496669T>C | CA394376380 | TBC1D24 | c.521T>C (p.Leu174Pro) n.703T>C | gnomAD v4 |
16 | g.2496669T>G | CA394376382 | TBC1D24 | c.521T>G (p.Leu174Arg) n.703T>G | |
16 | g.2496670G>A | CA493366916 | TBC1D24 | c.522G>A (p.Leu174=) n.704G>A | dbSNP |
16 | g.2496670G>C | CA493366918 | TBC1D24 | c.522G>C (p.Leu174=) n.704G>C | |
16 | g.2496670G= | CA2202259934 | TBC1D24 | c.522G= (p.Leu174=) n.704G= | |
16 | g.2496670G>T | CA493366920 | TBC1D24 | c.522G>T (p.Leu174=) n.704G>T | |
16 | g.2496671G>A | CA394376386 | TBC1D24 | c.523G>A (p.Ala175Thr) n.705G>A | gnomAD v4 |
16 | g.2496671G>C | CA394376388 | TBC1D24 | c.523G>C (p.Ala175Pro) n.705G>C | ClinVar dbSNP |
16 | g.2496671G>T | CA394376391 | TBC1D24 | c.523G>T (p.Ala175Ser) n.705G>T | |
16 | g.2496672C>A | CA394376393 | TBC1D24 | c.524C>A (p.Ala175Asp) n.706C>A | ClinVar dbSNP gnomAD v4 |
16 | g.2496672C= | CA2202259935 | TBC1D24 | c.524C= (p.Ala175=) n.706C= | |
16 | g.2496672C>G | CA394376395 | TBC1D24 | c.524C>G (p.Ala175Gly) n.706C>G | ClinVar dbSNP |
16 | g.2496672C>T | CA394376397 | TBC1D24 | c.524C>T (p.Ala175Val) n.706C>T | gnomAD v4 |
16 | g.2496673C>A | CA493366927 | TBC1D24 | c.525C>A (p.Ala175=) n.707C>A | |
16 | g.2496673C>G | CA493366928 | TBC1D24 | c.525C>G (p.Ala175=) n.707C>G | |
16 | g.2496673C>T | CA493366930 | TBC1D24 | c.525C>T (p.Ala175=) n.707C>T | |
16 | g.2496674T>A | CA394376399 | TBC1D24 | c.526T>A (p.Phe176Ile) n.708T>A | |
16 | g.2496674T>C | CA394376401 | TBC1D24 | c.526T>C (p.Phe176Leu) n.708T>C | |
16 | g.2496674T>G | CA394376403 | TBC1D24 | c.526T>G (p.Phe176Val) n.708T>G | |
16 | g.2496675T>A | CA394376405 | TBC1D24 | c.527T>A (p.Phe176Tyr) n.709T>A | |
16 | g.2496675T>C | CA394376407 | TBC1D24 | c.527T>C (p.Phe176Ser) n.709T>C | |
16 | g.2496675T>G | CA394376408 | TBC1D24 | c.527T>G (p.Phe176Cys) n.709T>G | |
16 | g.2496676T>A | CA394376412 | TBC1D24 | c.528T>A (p.Phe176Leu) n.710T>A | |
16 | g.2496676T>C | CA493366936 | TBC1D24 | c.528T>C (p.Phe176=) n.710T>C | gnomAD v4 |
16 | g.2496676T>G | CA394376410 | TBC1D24 | c.528T>G (p.Phe176Leu) n.710T>G | |
16 | g.2496677G>A | CA394376414 | TBC1D24 | c.529G>A (p.Glu177Lys) n.711G>A | |
16 | g.2496677G>C | CA394376418 | TBC1D24 | c.529G>C (p.Glu177Gln) n.711G>C | |
16 | g.2496677G>T | CA394376416 | TBC1D24 | c.529G>T (p.Glu177Ter) n.711G>T | gnomAD v4 |
16 | g.2496678A= | CA2202259936 | TBC1D24 | c.530A= (p.Glu177=) n.712A= | |
16 | g.2496678A>C | CA394376419 | TBC1D24 | c.530A>C (p.Glu177Ala) n.712A>C | gnomAD v4 |
16 | g.2496678A>G | CA7844018 | TBC1D24 | c.530A>G (p.Glu177Gly) n.712A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496678A>T | CA394376421 | TBC1D24 | c.530A>T (p.Glu177Val) n.712A>T | |
16 | g.2496679G>A | CA493366940 | TBC1D24 | c.531G>A (p.Glu177=) n.713G>A | |
16 | g.2496679G>C | CA394376423 | TBC1D24 | c.531G>C (p.Glu177Asp) n.713G>C | |
16 | g.2496679G>T | CA394376425 | TBC1D24 | c.531G>T (p.Glu177Asp) n.713G>T | |
16 | g.2496680T>A | CA394376427 | TBC1D24 | c.532T>A (p.Ser178Thr) n.714T>A | |
16 | g.2496680T>C | CA394376429 | TBC1D24 | c.532T>C (p.Ser178Pro) n.714T>C | |
16 | g.2496680T>G | CA394376431 | TBC1D24 | c.532T>G (p.Ser178Ala) n.714T>G | |
16 | g.2496681C>A | CA394376433 | TBC1D24 | c.533C>A (p.Ser178Ter) n.715C>A | gnomAD v4 |
16 | g.2496681C= | CA2202259937 | TBC1D24 | c.533C= (p.Ser178=) n.715C= | |
16 | g.2496681C>G | CA394376435 | TBC1D24 | c.533C>G (p.Ser178Trp) n.715C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496681C>T | CA156356 | TBC1D24 | c.533C>T (p.Ser178Leu) n.715C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496682G>A | CA7844019 | TBC1D24 | c.534G>A (p.Ser178=) n.716G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496682G>C | CA493366950 | TBC1D24 | c.534G>C (p.Ser178=) n.716G>C | |
16 | g.2496682G= | CA2202259938 | TBC1D24 | c.534G= (p.Ser178=) n.716G= | |
16 | g.2496682G>T | CA493366951 | TBC1D24 | c.534G>T (p.Ser178=) n.716G>T | |
16 | g.2496683T>A | CA394376443 | TBC1D24 | c.535T>A (p.Ser179Thr) n.717T>A | |
16 | g.2496683T>C | CA394376442 | TBC1D24 | c.535T>C (p.Ser179Pro) n.717T>C | |
16 | g.2496683T>G | CA394376440 | TBC1D24 | c.535T>G (p.Ser179Ala) n.717T>G | |
16 | g.2496683dup | CA2573152002 | TBC1D24 | c.535dup (p.Ser179PhefsTer?) n.717dup | ClinVar dbSNP |
16 | g.2496684C>A | CA394376445 | TBC1D24 | c.536C>A (p.Ser179Tyr) n.718C>A | |
16 | g.2496684C>G | CA394376447 | TBC1D24 | c.536C>G (p.Ser179Cys) n.718C>G | |
16 | g.2496684C>T | CA394376449 | TBC1D24 | c.536C>T (p.Ser179Phe) n.718C>T | gnomAD v4 |
16 | g.2496685C>A | CA493366957 | TBC1D24 | c.537C>A (p.Ser179=) n.719C>A | |
16 | g.2496685C>G | CA493366958 | TBC1D24 | c.537C>G (p.Ser179=) n.719C>G | |
16 | g.2496685C>T | CA493366959 | TBC1D24 | c.537C>T (p.Ser179=) n.719C>T | |
16 | g.2496686T>A | CA394376451 | TBC1D24 | c.538T>A (p.Cys180Ser) n.720T>A | |
16 | g.2496686T>C | CA394376453 | TBC1D24 | c.538T>C (p.Cys180Arg) n.720T>C | ClinVar |
16 | g.2496686T>G | CA394376455 | TBC1D24 | c.538T>G (p.Cys180Gly) n.720T>G | |
16 | g.2496686_2496687delinsTG | CA2202259939 | TBC1D24 | c.538_539delinsTG (p.Cys180=) n.720_721delinsTG | |
16 | g.2496687del | CA7844020 | TBC1D24 | c.539del (p.Cys180SerfsTer2) n.721del | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496687G>A | CA394376458 | TBC1D24 | c.539G>A (p.Cys180Tyr) n.721G>A | dbSNP gnomAD v2 |
16 | g.2496687G>C | CA394376460 | TBC1D24 | c.539G>C (p.Cys180Ser) n.721G>C | |
16 | g.2496687G= | CA2202259940 | TBC1D24 | c.539G= (p.Cys180=) n.721G= | |
16 | g.2496687G>T | CA394376462 | TBC1D24 | c.539G>T (p.Cys180Phe) n.721G>T | |
16 | g.2496688C>A | CA394376465 | TBC1D24 | c.540C>A (p.Cys180Ter) n.722C>A | ClinVar gnomAD v4 |
16 | g.2496688C>G | CA394376467 | TBC1D24 | c.540C>G (p.Cys180Trp) n.722C>G | |
16 | g.2496688C>T | CA493366965 | TBC1D24 | c.540C>T (p.Cys180=) n.722C>T | |
16 | g.2496689A= | CA2202259941 | TBC1D24 | c.541A= (p.Met181=) n.723A= | |
16 | g.2496689A>C | CA394376473 | TBC1D24 | c.541A>C (p.Met181Leu) n.723A>C | |
16 | g.2496689A>G | CA394376471 | TBC1D24 | c.541A>G (p.Met181Val) n.723A>G | ClinVar |
16 | g.2496689A>T | CA394376470 | TBC1D24 | c.541A>T (p.Met181Leu) n.723A>T | dbSNP gnomAD v4 |
16 | g.2496690T>A | CA394376474 | TBC1D24 | c.542T>A (p.Met181Lys) n.724T>A | |
16 | g.2496690T>C | CA394376475 | TBC1D24 | c.542T>C (p.Met181Thr) n.724T>C | |
16 | g.2496690T>G | CA394376476 | TBC1D24 | c.542T>G (p.Met181Arg) n.724T>G | |
16 | g.2496691G>A | CA394376479 | TBC1D24 | c.543G>A (p.Met181Ile) n.725G>A | |
16 | g.2496691G>C | CA394376481 | TBC1D24 | c.543G>C (p.Met181Ile) n.725G>C | |
16 | g.2496691G>T | CA394376483 | TBC1D24 | c.543G>T (p.Met181Ile) n.725G>T | |
16 | g.2496692A>C | CA394376487 | TBC1D24 | c.544A>C (p.Thr182Pro) n.726A>C | |
16 | g.2496692A>G | CA394376484 | TBC1D24 | c.544A>G (p.Thr182Ala) n.726A>G | |
16 | g.2496692A>T | CA394376486 | TBC1D24 | c.544A>T (p.Thr182Ser) n.726A>T | |
16 | g.2496692_2496693delinsAC | CA2202259942 | TBC1D24 | c.544_545delinsAC (p.Thr182=) n.726_727delinsAC | |
16 | g.2496693del | CA620709063 | TBC1D24 | c.545del (p.Thr182SerfsTer6) n.727del | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496693C>A | CA394376489 | TBC1D24 | c.545C>A (p.Thr182Lys) n.727C>A | |
16 | g.2496693C= | CA2202259943 | TBC1D24 | c.545C= (p.Thr182=) n.727C= | |
16 | g.2496693C>G | CA394376491 | TBC1D24 | c.545C>G (p.Thr182Arg) n.727C>G | |
16 | g.2496693C>T | CA7844021 | TBC1D24 | c.545C>T (p.Thr182Met) n.727C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496694G>A | CA7844022 | TBC1D24 | c.546G>A (p.Thr182=) n.728G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496694G>C | CA493366972 | TBC1D24 | c.546G>C (p.Thr182=) n.728G>C | |
16 | g.2496694G= | CA2202259944 | TBC1D24 | c.546G= (p.Thr182=) n.728G= | |
16 | g.2496694G>T | CA7844023 | TBC1D24 | c.546G>T (p.Thr182=) n.728G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496695T>A | CA394376496 | TBC1D24 | c.547T>A (p.Phe183Ile) n.729T>A | |
16 | g.2496695T>C | CA394376499 | TBC1D24 | c.547T>C (p.Phe183Leu) n.729T>C | |
16 | g.2496695T>G | CA394376497 | TBC1D24 | c.547T>G (p.Phe183Val) n.729T>G | |
16 | g.2496696T>A | CA394376502 | TBC1D24 | c.548T>A (p.Phe183Tyr) n.730T>A | |
16 | g.2496696T>C | CA394376503 | TBC1D24 | c.548T>C (p.Phe183Ser) n.730T>C | gnomAD v4 |
16 | g.2496696T>G | CA394376505 | TBC1D24 | c.548T>G (p.Phe183Cys) n.730T>G | |
16 | g.2496697T>A | CA394376507 | TBC1D24 | c.549T>A (p.Phe183Leu) n.731T>A | |
16 | g.2496697T>C | CA493366977 | TBC1D24 | c.549T>C (p.Phe183=) n.731T>C | |
16 | g.2496697T>G | CA394376509 | TBC1D24 | c.549T>G (p.Phe183Leu) n.731T>G | |
16 | g.2496698G>A | CA394376512 | TBC1D24 | c.550G>A (p.Gly184Arg) n.732G>A | dbSNP |
16 | g.2496698G>C | CA394376514 | TBC1D24 | c.550G>C (p.Gly184Arg) n.732G>C | |
16 | g.2496698G>T | CA394376516 | TBC1D24 | c.550G>T (p.Gly184Trp) n.732G>T | |
16 | g.2496699G>A | CA394376519 | TBC1D24 | c.551G>A (p.Gly184Glu) n.733G>A | |
16 | g.2496699G>C | CA394376520 | TBC1D24 | c.551G>C (p.Gly184Ala) n.733G>C | |
16 | g.2496699G>T | CA394376523 | TBC1D24 | c.551G>T (p.Gly184Val) n.733G>T | |
16 | g.2496699_2496705delinsGGGACCT | CA2202259945 | TBC1D24 | c.551_557delinsGGGACCT (p.Gly184=) n.733_739delinsGGGACCT | |
16 | g.2496700G>A | CA493366980 | TBC1D24 | c.552G>A (p.Gly184=) n.734G>A | dbSNP gnomAD v2 |
16 | g.2496700G>C | CA493366982 | TBC1D24 | c.552G>C (p.Gly184=) n.734G>C | |
16 | g.2496700G= | CA2202259946 | TBC1D24 | c.552G= (p.Gly184=) n.734G= | |
16 | g.2496700G>T | CA493366981 | TBC1D24 | c.552G>T (p.Gly184=) n.734G>T | |
16 | g.2496702_2496707del | CA620709064 | TBC1D24 | c.554_559del (p.Asp185_Leu186del) n.736_741del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496701G>A | CA394376525 | TBC1D24 | c.553G>A (p.Asp185Asn) n.735G>A | |
16 | g.2496701G>C | CA394376529 | TBC1D24 | c.553G>C (p.Asp185His) n.735G>C | |
16 | g.2496701G>T | CA394376527 | TBC1D24 | c.553G>T (p.Asp185Tyr) n.735G>T | |
16 | g.2496702A>C | CA394376532 | TBC1D24 | c.554A>C (p.Asp185Ala) n.736A>C | |
16 | g.2496702A>G | CA394376536 | TBC1D24 | c.554A>G (p.Asp185Gly) n.736A>G | |
16 | g.2496702A>T | CA394376534 | TBC1D24 | c.554A>T (p.Asp185Val) n.736A>T | |
16 | g.2496703C>A | CA394376538 | TBC1D24 | c.555C>A (p.Asp185Glu) n.737C>A | |
16 | g.2496703C= | CA2202259947 | TBC1D24 | c.555C= (p.Asp185=) n.737C= | |
16 | g.2496703C>G | CA394376539 | TBC1D24 | c.555C>G (p.Asp185Glu) n.737C>G | |
16 | g.2496703C>T | CA493366986 | TBC1D24 | c.555C>T (p.Asp185=) n.737C>T | ClinVar dbSNP |
16 | g.2496704C>A | CA394376543 | TBC1D24 | c.556C>A (p.Leu186Met) n.738C>A | dbSNP gnomAD v4 |
16 | g.2496704C= | CA2202259948 | TBC1D24 | c.556C= (p.Leu186=) n.738C= | |
16 | g.2496704C>G | CA394376544 | TBC1D24 | c.556C>G (p.Leu186Val) n.738C>G | ClinVar dbSNP |
16 | g.2496704C>T | CA493366987 | TBC1D24 | c.556C>T (p.Leu186=) n.738C>T | |
16 | g.2496704_2496705delinsCT | CA2202259949 | TBC1D24 | c.556_557delinsCT (p.Leu186=) n.738_739delinsCT | |
16 | g.2496705del | CA620709065 | TBC1D24 | c.557del (p.Leu186ArgfsTer2) n.739del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496705T>A | CA394376546 | TBC1D24 | c.557T>A (p.Leu186Gln) n.739T>A | |
16 | g.2496705T>C | CA394376549 | TBC1D24 | c.557T>C (p.Leu186Pro) n.739T>C | gnomAD v4 |
16 | g.2496705T>G | CA394376548 | TBC1D24 | c.557T>G (p.Leu186Arg) n.739T>G | |
16 | g.2496706G>A | CA493366988 | TBC1D24 | c.558G>A (p.Leu186=) n.740G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496706G>C | CA493366990 | TBC1D24 | c.558G>C (p.Leu186=) n.740G>C | |
16 | g.2496706G= | CA2202259950 | TBC1D24 | c.558G= (p.Leu186=) n.740G= | |
16 | g.2496706G>T | CA493366992 | TBC1D24 | c.558G>T (p.Leu186=) n.740G>T | |
16 | g.2496707G>A | CA394376553 | TBC1D24 | c.559G>A (p.Val187Met) n.741G>A | |
16 | g.2496707G>C | CA394376555 | TBC1D24 | c.559G>C (p.Val187Leu) n.741G>C | |
16 | g.2496707G>T | CA394376557 | TBC1D24 | c.559G>T (p.Val187Leu) n.741G>T | |
16 | g.2496708T>A | CA394376560 | TBC1D24 | c.560T>A (p.Val187Glu) n.742T>A | |
16 | g.2496708T>C | CA394376562 | TBC1D24 | c.560T>C (p.Val187Ala) n.742T>C | |
16 | g.2496708T>G | CA394376564 | TBC1D24 | c.560T>G (p.Val187Gly) n.742T>G | |
16 | g.2496709G>A | CA493366997 | TBC1D24 | c.561G>A (p.Val187=) n.743G>A | |
16 | g.2496709G>C | CA493366998 | TBC1D24 | c.561G>C (p.Val187=) n.743G>C | |
16 | g.2496709G= | CA2202259951 | TBC1D24 | c.561G= (p.Val187=) n.743G= | |
16 | g.2496709G>T | CA493366996 | TBC1D24 | c.561G>T (p.Val187=) n.743G>T | ClinVar dbSNP gnomAD v4 |
16 | g.2496710A>C | CA394376567 | TBC1D24 | c.562A>C (p.Asn188His) n.744A>C | |
16 | g.2496710A>G | CA394376568 | TBC1D24 | c.562A>G (p.Asn188Asp) n.744A>G | |
16 | g.2496710A>T | CA394376570 | TBC1D24 | c.562A>T (p.Asn188Tyr) n.744A>T | |
16 | g.2496711A>C | CA394376573 | TBC1D24 | c.563A>C (p.Asn188Thr) n.745A>C | |
16 | g.2496711A>G | CA394376574 | TBC1D24 | c.563A>G (p.Asn188Ser) n.745A>G | |
16 | g.2496711A>T | CA394376576 | TBC1D24 | c.563A>T (p.Asn188Ile) n.745A>T | gnomAD v4 |
16 | g.2496712C>A | CA394376580 | TBC1D24 | c.564C>A (p.Asn188Lys) n.746C>A | |
16 | g.2496712C>G | CA394376579 | TBC1D24 | c.564C>G (p.Asn188Lys) n.746C>G | |
16 | g.2496712C>T | CA493367002 | TBC1D24 | c.564C>T (p.Asn188=) n.746C>T | |
16 | g.2496713A>C | CA394376581 | TBC1D24 | c.565A>C (p.Lys189Gln) n.747A>C | |
16 | g.2496713A>G | CA394376582 | TBC1D24 | c.565A>G (p.Lys189Glu) n.747A>G | |
16 | g.2496713A>T | CA394376584 | TBC1D24 | c.565A>T (p.Lys189Ter) n.747A>T | |
16 | g.2496714A= | CA2202259952 | TBC1D24 | c.566A= (p.Lys189=) n.748A= | |
16 | g.2496714A>C | CA394376587 | TBC1D24 | c.566A>C (p.Lys189Thr) n.748A>C | |
16 | g.2496714A>G | CA394376589 | TBC1D24 | c.566A>G (p.Lys189Arg) n.748A>G | dbSNP gnomAD v4 |
16 | g.2496714A>T | CA394376592 | TBC1D24 | c.566A>T (p.Lys189Met) n.748A>T | dbSNP |
16 | g.2496715G>A | CA493367007 | TBC1D24 | c.567G>A (p.Lys189=) n.749G>A | gnomAD v4 |
16 | g.2496715G>C | CA394376594 | TBC1D24 | c.567G>C (p.Lys189Asn) n.749G>C | |
16 | g.2496715G>T | CA394376596 | TBC1D24 | c.567G>T (p.Lys189Asn) n.749G>T | gnomAD v4 |
16 | g.2496716del | CA2631210258 | TBC1D24 | c.568del (p.Tyr190ThrfsTer8) n.750del | gnomAD v4 |
16 | g.2496716T>A | CA394376598 | TBC1D24 | c.568T>A (p.Tyr190Asn) n.750T>A | |
16 | g.2496716T>C | CA394376600 | TBC1D24 | c.568T>C (p.Tyr190His) n.750T>C | gnomAD v4 |
16 | g.2496716T>G | CA394376602 | TBC1D24 | c.568T>G (p.Tyr190Asp) n.750T>G | |
16 | g.2496717A>C | CA394376608 | TBC1D24 | c.569A>C (p.Tyr190Ser) n.751A>C | |
16 | g.2496717A>G | CA394376606 | TBC1D24 | c.569A>G (p.Tyr190Cys) n.751A>G | |
16 | g.2496717A>T | CA394376605 | TBC1D24 | c.569A>T (p.Tyr190Phe) n.751A>T | |
16 | g.2496718C>A | CA394376611 | TBC1D24 | c.570C>A (p.Tyr190Ter) n.752C>A | |
16 | g.2496718C= | CA2202259953 | TBC1D24 | c.570C= (p.Tyr190=) n.752C= | |
16 | g.2496718C>G | CA394376613 | TBC1D24 | c.570C>G (p.Tyr190Ter) n.752C>G | |
16 | g.2496718C>T | CA276809628 | TBC1D24 | c.570C>T (p.Tyr190=) n.752C>T | ClinVar dbSNP gnomAD v4 |
16 | g.2496719T>A | CA394376615 | TBC1D24 | c.571T>A (p.Cys191Ser) n.753T>A | gnomAD v4 |
16 | g.2496719T>C | CA394376617 | TBC1D24 | c.571T>C (p.Cys191Arg) n.753T>C | ClinVar |
16 | g.2496719T>G | CA394376619 | TBC1D24 | c.571T>G (p.Cys191Gly) n.753T>G | |
16 | g.2496720G>A | CA394376622 | TBC1D24 | c.572G>A (p.Cys191Tyr) n.754G>A | |
16 | g.2496720G>C | CA394376623 | TBC1D24 | c.572G>C (p.Cys191Ser) n.754G>C | |
16 | g.2496720G>T | CA394376625 | TBC1D24 | c.572G>T (p.Cys191Phe) n.754G>T | |
16 | g.2496721C>A | CA394376627 | TBC1D24 | c.573C>A (p.Cys191Ter) n.755C>A | |
16 | g.2496721C>G | CA394376629 | TBC1D24 | c.573C>G (p.Cys191Trp) n.755C>G | |
16 | g.2496721C>T | CA493367015 | TBC1D24 | c.573C>T (p.Cys191=) n.755C>T | COSMIC |
16 | g.2496722C>A | CA394376631 | TBC1D24 | c.574C>A (p.Gln192Lys) n.756C>A | |
16 | g.2496722C>G | CA394376632 | TBC1D24 | c.574C>G (p.Gln192Glu) n.756C>G | gnomAD v4 |
16 | g.2496722C>T | CA394376633 | TBC1D24 | c.574C>T (p.Gln192Ter) n.756C>T | ClinVar dbSNP |
16 | g.2496723A= | CA2202259954 | TBC1D24 | c.575A= (p.Gln192=) n.757A= | |
16 | g.2496723A>C | CA394376636 | TBC1D24 | c.575A>C (p.Gln192Pro) n.757A>C | |
16 | g.2496723A>G | CA7844024 | TBC1D24 | c.575A>G (p.Gln192Arg) n.757A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496723A>T | CA394376634 | TBC1D24 | c.575A>T (p.Gln192Leu) n.757A>T | |
16 | g.2496724G>A | CA493367018 | TBC1D24 | c.576G>A (p.Gln192=) n.758G>A | gnomAD v4 |
16 | g.2496724G>C | CA394376638 | TBC1D24 | c.576G>C (p.Gln192His) n.758G>C | |
16 | g.2496724G>T | CA394376640 | TBC1D24 | c.576G>T (p.Gln192His) n.758G>T | |
16 | g.2496725G>A | CA394376641 | TBC1D24 | c.577G>A (p.Ala193Thr) n.759G>A | |
16 | g.2496725G>C | CA394376643 | TBC1D24 | c.577G>C (p.Ala193Pro) n.759G>C | |
16 | g.2496725G>T | CA394376645 | TBC1D24 | c.577G>T (p.Ala193Ser) n.759G>T | |
16 | g.2496726C>A | CA394376647 | TBC1D24 | c.578C>A (p.Ala193Glu) n.760C>A | gnomAD v4 |
16 | g.2496726C= | CA2202259955 | TBC1D24 | c.578C= (p.Ala193=) n.760C= | |
16 | g.2496726C>G | CA394376648 | TBC1D24 | c.578C>G (p.Ala193Gly) n.760C>G | |
16 | g.2496726C>T | CA319027 | TBC1D24 | c.578C>T (p.Ala193Val) n.760C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496727G>A | CA493367022 | TBC1D24 | c.579G>A (p.Ala193=) n.761G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.2496727G>C | CA493367023 | TBC1D24 | c.579G>C (p.Ala193=) n.761G>C | |
16 | g.2496727G= | CA2202259956 | TBC1D24 | c.579G= (p.Ala193=) n.761G= | |
16 | g.2496727G>T | CA493367025 | TBC1D24 | c.579G>T (p.Ala193=) n.761G>T | ClinVar dbSNP gnomAD v4 |
16 | g.2496728G>A | CA394376652 | TBC1D24 | c.580G>A (p.Ala194Thr) n.762G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496728G>C | CA394376653 | TBC1D24 | c.580G>C (p.Ala194Pro) n.762G>C | |
16 | g.2496728G= | CA2202259957 | TBC1D24 | c.580G= (p.Ala194=) n.762G= | |
16 | g.2496728G>T | CA394376654 | TBC1D24 | c.580G>T (p.Ala194Ser) n.762G>T | |
16 | g.2496729C>A | CA394376661 | TBC1D24 | c.581C>A (p.Ala194Asp) n.763C>A | |
16 | g.2496729C= | CA2202259958 | TBC1D24 | c.581C= (p.Ala194=) n.763C= | |
16 | g.2496729C>G | CA394376659 | TBC1D24 | c.581C>G (p.Ala194Gly) n.763C>G | |
16 | g.2496729C>T | CA394376657 | TBC1D24 | c.581C>T (p.Ala194Val) n.763C>T | ClinVar dbSNP gnomAD v2 |
16 | g.2496730C>A | CA493367032 | TBC1D24 | c.582C>A (p.Ala194=) n.764C>A | |
16 | g.2496730C= | CA2202259959 | TBC1D24 | c.582C= (p.Ala194=) n.764C= | |
16 | g.2496730C>G | CA493367031 | TBC1D24 | c.582C>G (p.Ala194=) n.764C>G | |
16 | g.2496730C>T | CA493367030 | TBC1D24 | c.582C>T (p.Ala194=) n.764C>T | dbSNP gnomAD v2 |
16 | g.2496731C>A | CA394376663 | TBC1D24 | c.583C>A (p.His195Asn) n.765C>A | |
16 | g.2496731C>G | CA394376665 | TBC1D24 | c.583C>G (p.His195Asp) n.765C>G | |
16 | g.2496731C>T | CA394376667 | TBC1D24 | c.583C>T (p.His195Tyr) n.765C>T | |
16 | g.2496732A>C | CA394376670 | TBC1D24 | c.584A>C (p.His195Pro) n.766A>C | |
16 | g.2496732A>G | CA394376671 | TBC1D24 | c.584A>G (p.His195Arg) n.766A>G | |
16 | g.2496732A>T | CA394376672 | TBC1D24 | c.584A>T (p.His195Leu) n.766A>T | |
16 | g.2496733C>A | CA394376675 | TBC1D24 | c.585C>A (p.His195Gln) n.767C>A | |
16 | g.2496733C>G | CA394376677 | TBC1D24 | c.585C>G (p.His195Gln) n.767C>G | ClinVar |
16 | g.2496733C>T | CA493367036 | TBC1D24 | c.585C>T (p.His195=) n.767C>T | |
16 | g.2496734A>C | CA394376679 | TBC1D24 | c.586A>C (p.Lys196Gln) n.768A>C | |
16 | g.2496734A>G | CA394376681 | TBC1D24 | c.586A>G (p.Lys196Glu) n.768A>G | |
16 | g.2496734A>T | CA394376683 | TBC1D24 | c.586A>T (p.Lys196Ter) n.768A>T |