Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.136673795_136673855del | CA2692653751 | AGPAT2 | c.734_794del (p.Val245GlyfsTer22) c.638_698del (p.Val213GlyfsTer22) n.662_722del | gnomAD v4 |
9 | g.136673829_136673837del | CA16042192 | AGPAT2 | c.755_763del (p.Met252_Thr254del) c.659_667del (p.Met220_Thr222del) n.683_691del | ClinVar dbSNP gnomAD v4 |
9 | g.136673834_136673840dup | CA2692653754 | AGPAT2 | c.750_756dup (p.Arg253GlyfsTer?) c.654_660dup (p.Arg221GlyfsTer?) n.678_684dup | gnomAD v4 |
9 | g.136673835T>A | CA375577285 | AGPAT2 | c.754A>T (p.Met252Leu) c.658A>T (p.Met220Leu) n.682A>T | |
9 | g.136673835T>C | CA5342828 | AGPAT2 | c.754A>G (p.Met252Val) c.658A>G (p.Met220Val) n.682A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.136673835T>G | CA375577288 | AGPAT2 | c.754A>C (p.Met252Leu) c.658A>C (p.Met220Leu) n.682A>C | |
9 | g.136673836G>A | CA467737010 | AGPAT2 | c.753C>T (p.Ala251=) c.657C>T (p.Ala219=) n.681C>T | gnomAD v4 |
9 | g.136673836G>C | CA467737011 | AGPAT2 | c.753C>G (p.Ala251=) c.657C>G (p.Ala219=) n.681C>G | |
9 | g.136673836G>T | CA467737012 | AGPAT2 | c.753C>A (p.Ala251=) c.657C>A (p.Ala219=) n.681C>A | |
9 | g.136673837G>A | CA375577290 | AGPAT2 | c.752C>T (p.Ala251Val) c.656C>T (p.Ala219Val) n.680C>T | gnomAD v4 |
9 | g.136673837G>C | CA375577291 | AGPAT2 | c.752C>G (p.Ala251Gly) c.656C>G (p.Ala219Gly) n.680C>G | |
9 | g.136673837G>T | CA375577292 | AGPAT2 | c.752C>A (p.Ala251Asp) c.656C>A (p.Ala219Asp) n.680C>A | |
9 | g.136673838C>A | CA375577293 | AGPAT2 | c.751G>T (p.Ala251Ser) c.655G>T (p.Ala219Ser) n.679G>T | |
9 | g.136673838C>G | CA375577296 | AGPAT2 | c.751G>C (p.Ala251Pro) c.655G>C (p.Ala219Pro) n.679G>C | |
9 | g.136673838C>T | CA375577294 | AGPAT2 | c.751G>A (p.Ala251Thr) c.655G>A (p.Ala219Thr) n.679G>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673839C>A | CA467737013 | AGPAT2 | c.750G>T (p.Arg250=) c.654G>T (p.Arg218=) n.678G>T | |
9 | g.136673839C>G | CA467737014 | AGPAT2 | c.750G>C (p.Arg250=) c.654G>C (p.Arg218=) n.678G>C | |
9 | g.136673839C>T | CA467737015 | AGPAT2 | c.750G>A (p.Arg250=) c.654G>A (p.Arg218=) n.678G>A | |
9 | g.136673840C>A | CA375577298 | AGPAT2 | c.749G>T (p.Arg250Leu) c.653G>T (p.Arg218Leu) n.677G>T | gnomAD v4 |
9 | g.136673840C>G | CA375577301 | AGPAT2 | c.749G>C (p.Arg250Pro) c.653G>C (p.Arg218Pro) n.677G>C | gnomAD v4 |
9 | g.136673840C>T | CA5342829 | AGPAT2 | c.749G>A (p.Arg250Gln) c.653G>A (p.Arg218Gln) n.677G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673842_136673861dup | CA2692653755 | AGPAT2 | c.730_749dup (p.Ala251SerfsTer9) c.634_653dup (p.Ala219SerfsTer9) n.658_677dup | gnomAD v4 |
9 | g.136673841G>A | CA5342830 | AGPAT2 | c.748C>T (p.Arg250Trp) c.652C>T (p.Arg218Trp) n.676C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673841G>C | CA375577306 | AGPAT2 | c.748C>G (p.Arg250Gly) c.652C>G (p.Arg218Gly) n.676C>G | dbSNP |
9 | g.136673841G>T | CA467737016 | AGPAT2 | c.748C>A (p.Arg250=) c.652C>A (p.Arg218=) n.676C>A | gnomAD v4 COSMIC |
9 | g.136673845_136673851dup | CA2579519878 | AGPAT2 | c.742_748dup (p.Arg250LeufsTer?) c.646_652dup (p.Arg218LeufsTer?) n.670_676dup | gnomAD v4 |
9 | g.136673843_136673865dup | CA2692653756 | AGPAT2 | c.726_748dup (p.Arg250LeufsTer11) c.630_652dup (p.Arg218LeufsTer11) n.654_676dup | gnomAD v4 |
9 | g.136673842G>A | CA5342831 | AGPAT2 | c.747C>T (p.His249=) c.651C>T (p.His217=) n.675C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673842G>C | CA375577309 | AGPAT2 | c.747C>G (p.His249Gln) c.651C>G (p.His217Gln) n.675C>G | |
9 | g.136673842G>T | CA375577310 | AGPAT2 | c.747C>A (p.His249Gln) c.651C>A (p.His217Gln) n.675C>A | |
9 | g.136673844_136673852dup | CA591367748 | AGPAT2 | c.739_747dup (p.His249_Arg250insThrCysHis) c.643_651dup (p.His217_Arg218insThrCysHis) n.667_675dup | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673843T>A | CA375577312 | AGPAT2 | c.746A>T (p.His249Leu) c.650A>T (p.His217Leu) n.674A>T | |
9 | g.136673843T>C | CA375577313 | AGPAT2 | c.746A>G (p.His249Arg) c.650A>G (p.His217Arg) n.674A>G | |
9 | g.136673843T>G | CA375577314 | AGPAT2 | c.746A>C (p.His249Pro) c.650A>C (p.His217Pro) n.674A>C | dbSNP |
9 | g.136673844G>A | CA201626841 | AGPAT2 | c.745C>T (p.His249Tyr) c.649C>T (p.His217Tyr) n.673C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136673844G>C | CA375577317 | AGPAT2 | c.745C>G (p.His249Asp) c.649C>G (p.His217Asp) n.673C>G | gnomAD v4 |
9 | g.136673844G>T | CA375577319 | AGPAT2 | c.745C>A (p.His249Asn) c.649C>A (p.His217Asn) n.673C>A | |
9 | g.136673844_136673853dup | CA2579519879 | AGPAT2 | c.736_745dup (p.His249ArgfsTer?) c.640_649dup (p.His217ArgfsTer?) n.664_673dup | |
9 | g.136673845G>A | CA201626851 | AGPAT2 | c.744C>T (p.Cys248=) c.648C>T (p.Cys216=) n.672C>T | dbSNP gnomAD v4 |
9 | g.136673845G>C | CA375577321 | AGPAT2 | c.744C>G (p.Cys248Trp) c.648C>G (p.Cys216Trp) n.672C>G | |
9 | g.136673845G>T | CA375577323 | AGPAT2 | c.744C>A (p.Cys248Ter) c.648C>A (p.Cys216Ter) n.672C>A | |
9 | g.136673847_136673860dup | CA2692653757 | AGPAT2 | c.731_744dup (p.His249SerfsTer9) c.635_648dup (p.His217SerfsTer9) n.659_672dup | gnomAD v4 |
9 | g.136673846C>A | CA375577326 | AGPAT2 | c.743G>T (p.Cys248Phe) c.647G>T (p.Cys216Phe) n.671G>T | gnomAD v4 |
9 | g.136673846C>G | CA375577329 | AGPAT2 | c.743G>C (p.Cys248Ser) c.647G>C (p.Cys216Ser) n.671G>C | |
9 | g.136673846C>T | CA375577327 | AGPAT2 | c.743G>A (p.Cys248Tyr) c.647G>A (p.Cys216Tyr) n.671G>A | |
9 | g.136673847_136673853del | CA2579519880 | AGPAT2 | c.737_743del (p.Asp246AlafsTer5) c.641_647del (p.Asp214AlafsTer5) n.665_671del | |
9 | g.136673847_136673868dup | CA2786279702 | AGPAT2 | c.722_743dup (p.His249ProfsTer?) c.626_647dup (p.His217ProfsTer?) n.650_671dup | |
9 | g.136673847A>C | CA375577332 | AGPAT2 | c.742T>G (p.Cys248Gly) c.646T>G (p.Cys216Gly) n.670T>G | dbSNP |
9 | g.136673847A>G | CA375577333 | AGPAT2 | c.742T>C (p.Cys248Arg) c.646T>C (p.Cys216Arg) n.670T>C | gnomAD v4 |
9 | g.136673847A>T | CA375577335 | AGPAT2 | c.742T>A (p.Cys248Ser) c.646T>A (p.Cys216Ser) n.670T>A |