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.136673826T>A | CA375577252 | AGPAT2 | c.763A>T (p.Thr255Ser) c.667A>T (p.Thr223Ser) n.691A>T | |
9 | g.136673826T>C | CA375577254 | AGPAT2 | c.763A>G (p.Thr255Ala) c.667A>G (p.Thr223Ala) n.691A>G | |
9 | g.136673826T>G | CA375577256 | AGPAT2 | c.763A>C (p.Thr255Pro) c.667A>C (p.Thr223Pro) n.691A>C | |
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.136673827G>A | CA5342825 | AGPAT2 | c.762C>T (p.Thr254=) c.666C>T (p.Thr222=) n.690C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673827G>C | CA467737005 | AGPAT2 | c.762C>G (p.Thr254=) c.666C>G (p.Thr222=) n.690C>G | |
9 | g.136673827G>T | CA467737006 | AGPAT2 | c.762C>A (p.Thr254=) c.666C>A (p.Thr222=) n.690C>A | gnomAD v4 |
9 | g.136673828G>A | CA5342826 | AGPAT2 | c.761C>T (p.Thr254Ile) c.665C>T (p.Thr222Ile) n.689C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673828G>C | CA375577260 | AGPAT2 | c.761C>G (p.Thr254Ser) c.665C>G (p.Thr222Ser) n.689C>G | dbSNP |
9 | g.136673828G>T | CA201626821 | AGPAT2 | c.761C>A (p.Thr254Asn) c.665C>A (p.Thr222Asn) n.689C>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673829T>A | CA375577263 | AGPAT2 | c.760A>T (p.Thr254Ser) c.664A>T (p.Thr222Ser) n.688A>T | |
9 | g.136673829T>C | CA375577264 | AGPAT2 | c.760A>G (p.Thr254Ala) c.664A>G (p.Thr222Ala) n.688A>G | |
9 | g.136673829T>G | CA375577265 | AGPAT2 | c.760A>C (p.Thr254Pro) c.664A>C (p.Thr222Pro) n.688A>C | |
9 | g.136673830C>A | CA375577267 | AGPAT2 | c.759G>T (p.Arg253Ser) c.663G>T (p.Arg221Ser) n.687G>T | gnomAD v4 |
9 | g.136673830C>G | CA375577269 | AGPAT2 | c.759G>C (p.Arg253Ser) c.663G>C (p.Arg221Ser) n.687G>C | |
9 | g.136673830C>T | CA467737008 | AGPAT2 | c.759G>A (p.Arg253=) c.663G>A (p.Arg221=) n.687G>A | dbSNP |
9 | g.136673831C>A | CA375577271 | AGPAT2 | c.758G>T (p.Arg253Met) c.662G>T (p.Arg221Met) n.686G>T | COSMIC |
9 | g.136673831C>G | CA375577272 | AGPAT2 | c.758G>C (p.Arg253Thr) c.662G>C (p.Arg221Thr) n.686G>C | |
9 | g.136673831C>T | CA5342827 | AGPAT2 | c.758G>A (p.Arg253Lys) c.662G>A (p.Arg221Lys) n.686G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673832T>A | CA375577274 | AGPAT2 | c.757A>T (p.Arg253Trp) c.661A>T (p.Arg221Trp) n.685A>T | |
9 | g.136673832T>C | CA375577273 | AGPAT2 | c.757A>G (p.Arg253Gly) c.661A>G (p.Arg221Gly) n.685A>G | gnomAD v4 |
9 | g.136673832T>G | CA467737009 | AGPAT2 | c.757A>C (p.Arg253=) c.661A>C (p.Arg221=) n.685A>C | |
9 | g.136673833C>A | CA375577276 | AGPAT2 | c.756G>T (p.Met252Ile) c.660G>T (p.Met220Ile) n.684G>T | |
9 | g.136673833C>G | CA375577278 | AGPAT2 | c.756G>C (p.Met252Ile) c.660G>C (p.Met220Ile) n.684G>C | |
9 | g.136673833C>T | CA375577279 | AGPAT2 | c.756G>A (p.Met252Ile) c.660G>A (p.Met220Ile) n.684G>A | dbSNP gnomAD v3 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.136673834A>C | CA375577281 | AGPAT2 | c.755T>G (p.Met252Arg) c.659T>G (p.Met220Arg) n.683T>G | |
9 | g.136673834A>G | CA375577283 | AGPAT2 | c.755T>C (p.Met252Thr) c.659T>C (p.Met220Thr) n.683T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673834A>T | CA375577284 | AGPAT2 | c.755T>A (p.Met252Lys) c.659T>A (p.Met220Lys) n.683T>A | |
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 |