Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.136673760_136673825del | CA5342801 | AGPAT2 | c.766_831del (p.Phe256_Ala277del) c.670_735del (p.Phe224_Ala245del) n.694_759del | ExAC gnomAD v2 gnomAD v4 |
9 | g.136673795_136673855del | CA2692653751 | AGPAT2 | c.734_794del (p.Val245GlyfsTer22) c.638_698del (p.Val213GlyfsTer22) n.662_722del | gnomAD v4 |
9 | g.136673819A>C | CA375577229 | AGPAT2 | c.770T>G (p.Leu257Arg) c.674T>G (p.Leu225Arg) n.698T>G | |
9 | g.136673819A>G | CA375577228 | AGPAT2 | c.770T>C (p.Leu257Pro) c.674T>C (p.Leu225Pro) n.698T>C | |
9 | g.136673819A>T | CA375577226 | AGPAT2 | c.770T>A (p.Leu257His) c.674T>A (p.Leu225His) n.698T>A | |
9 | g.136673820G>A | CA375577230 | AGPAT2 | c.769C>T (p.Leu257Phe) c.673C>T (p.Leu225Phe) n.697C>T | |
9 | g.136673820G>C | CA375577231 | AGPAT2 | c.769C>G (p.Leu257Val) c.673C>G (p.Leu225Val) n.697C>G | |
9 | g.136673820G>T | CA375577233 | AGPAT2 | c.769C>A (p.Leu257Ile) c.673C>A (p.Leu225Ile) n.697C>A | gnomAD v4 |
9 | g.136673821del | CA591367747 | AGPAT2 | c.769del (p.Leu257SerfsTer30) c.673del (p.Leu225SerfsTer30) n.697del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673821G>A | CA467737001 | AGPAT2 | c.768C>T (p.Phe256=) c.672C>T (p.Phe224=) n.696C>T | |
9 | g.136673821G>C | CA375577235 | AGPAT2 | c.768C>G (p.Phe256Leu) c.672C>G (p.Phe224Leu) n.696C>G | |
9 | g.136673821G>T | CA5342824 | AGPAT2 | c.768C>A (p.Phe256Leu) c.672C>A (p.Phe224Leu) n.696C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673822A>C | CA375577238 | AGPAT2 | c.767T>G (p.Phe256Cys) c.671T>G (p.Phe224Cys) n.695T>G | |
9 | g.136673822A>G | CA375577239 | AGPAT2 | c.767T>C (p.Phe256Ser) c.671T>C (p.Phe224Ser) n.695T>C | |
9 | g.136673822A>T | CA375577240 | AGPAT2 | c.767T>A (p.Phe256Tyr) c.671T>A (p.Phe224Tyr) n.695T>A | |
9 | g.136673823A>C | CA375577242 | AGPAT2 | c.766T>G (p.Phe256Val) c.670T>G (p.Phe224Val) n.694T>G | |
9 | g.136673823A>G | CA375577243 | AGPAT2 | c.766T>C (p.Phe256Leu) c.670T>C (p.Phe224Leu) n.694T>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673823A>T | CA375577244 | AGPAT2 | c.766T>A (p.Phe256Ile) c.670T>A (p.Phe224Ile) n.694T>A | |
9 | g.136673824G>A | CA467737002 | AGPAT2 | c.765C>T (p.Thr255=) c.669C>T (p.Thr223=) n.693C>T | dbSNP gnomAD v4 |
9 | g.136673824G>C | CA467737003 | AGPAT2 | c.765C>G (p.Thr255=) c.669C>G (p.Thr223=) n.693C>G | |
9 | g.136673824G>T | CA467737004 | AGPAT2 | c.765C>A (p.Thr255=) c.669C>A (p.Thr223=) n.693C>A | |
9 | g.136673825G>A | CA201626811 | AGPAT2 | c.764C>T (p.Thr255Ile) c.668C>T (p.Thr223Ile) n.692C>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673825G>C | CA375577247 | AGPAT2 | c.764C>G (p.Thr255Ser) c.668C>G (p.Thr223Ser) n.692C>G | |
9 | g.136673825G>T | CA375577249 | AGPAT2 | c.764C>A (p.Thr255Asn) c.668C>A (p.Thr223Asn) n.692C>A | |
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 |