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.136673813A>C | CA375577203 | AGPAT2 | c.776T>G (p.Ile259Ser) c.680T>G (p.Ile227Ser) n.704T>G | |
9 | g.136673813A>G | CA201626809 | AGPAT2 | c.776T>C (p.Ile259Thr) c.680T>C (p.Ile227Thr) n.704T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673813A>T | CA375577201 | AGPAT2 | c.776T>A (p.Ile259Asn) c.680T>A (p.Ile227Asn) n.704T>A | |
9 | g.136673814T>A | CA375577205 | AGPAT2 | c.775A>T (p.Ile259Phe) c.679A>T (p.Ile227Phe) n.703A>T | gnomAD v4 |
9 | g.136673814T>C | CA375577207 | AGPAT2 | c.775A>G (p.Ile259Val) c.679A>G (p.Ile227Val) n.703A>G | |
9 | g.136673814T>G | CA375577209 | AGPAT2 | c.775A>C (p.Ile259Leu) c.679A>C (p.Ile227Leu) n.703A>C | |
9 | g.136673815G>A | CA467736993 | AGPAT2 | c.774C>T (p.His258=) c.678C>T (p.His226=) n.702C>T | gnomAD v4 |
9 | g.136673815G>C | CA375577211 | AGPAT2 | c.774C>G (p.His258Gln) c.678C>G (p.His226Gln) n.702C>G | |
9 | g.136673815G>T | CA375577213 | AGPAT2 | c.774C>A (p.His258Gln) c.678C>A (p.His226Gln) n.702C>A | |
9 | g.136673816_136673818del | CA2579519877 | AGPAT2 | c.772_774del (p.His258del) c.676_678del (p.His226del) n.700_702del | |
9 | g.136673816T>A | CA375577216 | AGPAT2 | c.773A>T (p.His258Leu) c.677A>T (p.His226Leu) n.701A>T | |
9 | g.136673816T>C | CA375577217 | AGPAT2 | c.773A>G (p.His258Arg) c.677A>G (p.His226Arg) n.701A>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673816T>G | CA375577219 | AGPAT2 | c.773A>C (p.His258Pro) c.677A>C (p.His226Pro) n.701A>C | |
9 | g.136673817G>A | CA375577220 | AGPAT2 | c.772C>T (p.His258Tyr) c.676C>T (p.His226Tyr) n.700C>T | |
9 | g.136673817G>C | CA375577222 | AGPAT2 | c.772C>G (p.His258Asp) c.676C>G (p.His226Asp) n.700C>G | |
9 | g.136673817G>T | CA375577223 | AGPAT2 | c.772C>A (p.His258Asn) c.676C>A (p.His226Asn) n.700C>A | |
9 | g.136673818G>A | CA467736999 | AGPAT2 | c.771C>T (p.Leu257=) c.675C>T (p.Leu225=) n.699C>T | gnomAD v4 |
9 | g.136673818G>C | CA467736998 | AGPAT2 | c.771C>G (p.Leu257=) c.675C>G (p.Leu225=) n.699C>G | |
9 | g.136673818G>T | CA467736996 | AGPAT2 | c.771C>A (p.Leu257=) c.675C>A (p.Leu225=) n.699C>A | |
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 |