Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.136673908_136673922del | CA2692653772 | AGPAT2 | c.667_681del (p.Val223_Val227del) c.571_585del (p.Val191_Val195del) n.595_609del | gnomAD v4 |
9 | g.136673913G>A | CA16042193 | AGPAT2 | c.676C>T (p.Gln226Ter) c.580C>T (p.Gln194Ter) n.604C>T | ClinVar dbSNP gnomAD v4 |
9 | g.136673913G>C | CA375577739 | AGPAT2 | c.676C>G (p.Gln226Glu) c.580C>G (p.Gln194Glu) n.604C>G | |
9 | g.136673913G>T | CA375577742 | AGPAT2 | c.676C>A (p.Gln226Lys) c.580C>A (p.Gln194Lys) n.604C>A | gnomAD v4 |
9 | g.136673914C>A | CA467737213 | AGPAT2 | c.675G>T (p.Val225=) c.579G>T (p.Val193=) n.603G>T | gnomAD v4 |
9 | g.136673914C>G | CA5342855 | AGPAT2 | c.675G>C (p.Val225=) c.579G>C (p.Val193=) n.603G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.136673914C>T | CA5342856 | AGPAT2 | c.675G>A (p.Val225=) c.579G>A (p.Val193=) n.603G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.136673915A>C | CA375577747 | AGPAT2 | c.674T>G (p.Val225Gly) c.578T>G (p.Val193Gly) n.602T>G | |
9 | g.136673915A>G | CA5342857 | AGPAT2 | c.674T>C (p.Val225Ala) c.578T>C (p.Val193Ala) n.602T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673915A>T | CA375577750 | AGPAT2 | c.674T>A (p.Val225Glu) c.578T>A (p.Val193Glu) n.602T>A | |
9 | g.136673916C>A | CA375577751 | AGPAT2 | c.673G>T (p.Val225Leu) c.577G>T (p.Val193Leu) n.601G>T | gnomAD v4 |
9 | g.136673916C>G | CA375577753 | AGPAT2 | c.673G>C (p.Val225Leu) c.577G>C (p.Val193Leu) n.601G>C | gnomAD v4 |
9 | g.136673916C>T | CA375577759 | AGPAT2 | c.673G>A (p.Val225Met) c.577G>A (p.Val193Met) n.601G>A | gnomAD v4 |
9 | g.136673917T>A | CA467737228 | AGPAT2 | c.672A>T (p.Thr224=) c.576A>T (p.Thr192=) n.600A>T | |
9 | g.136673917T>C | CA467737235 | AGPAT2 | c.672A>G (p.Thr224=) c.576A>G (p.Thr192=) n.600A>G | |
9 | g.136673917T>G | CA467737231 | AGPAT2 | c.672A>C (p.Thr224=) c.576A>C (p.Thr192=) n.600A>C | |
9 | g.136673918G>A | CA375577763 | AGPAT2 | c.671C>T (p.Thr224Ile) c.575C>T (p.Thr192Ile) n.599C>T | gnomAD v4 |
9 | g.136673918G>C | CA201626932 | AGPAT2 | c.671C>G (p.Thr224Arg) c.575C>G (p.Thr192Arg) n.599C>G | dbSNP |
9 | g.136673918G>T | CA375577767 | AGPAT2 | c.671C>A (p.Thr224Lys) c.575C>A (p.Thr192Lys) n.599C>A | gnomAD v4 |
9 | g.136673919T>A | CA375577768 | AGPAT2 | c.670A>T (p.Thr224Ser) c.574A>T (p.Thr192Ser) n.598A>T | |
9 | g.136673919T>C | CA375577769 | AGPAT2 | c.670A>G (p.Thr224Ala) c.574A>G (p.Thr192Ala) n.598A>G | gnomAD v4 |
9 | g.136673919T>G | CA375577770 | AGPAT2 | c.670A>C (p.Thr224Pro) c.574A>C (p.Thr192Pro) n.598A>C | |
9 | g.136673920G>A | CA201626936 | AGPAT2 | c.669C>T (p.Val223=) c.573C>T (p.Val191=) n.597C>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673920G>C | CA467737257 | AGPAT2 | c.669C>G (p.Val223=) c.573C>G (p.Val191=) n.597C>G | |
9 | g.136673920G>T | CA467737260 | AGPAT2 | c.669C>A (p.Val223=) c.573C>A (p.Val191=) n.597C>A | gnomAD v4 |
9 | g.136673921A>C | CA375577778 | AGPAT2 | c.668T>G (p.Val223Gly) c.572T>G (p.Val191Gly) n.596T>G | |
9 | g.136673921A>G | CA375577775 | AGPAT2 | c.668T>C (p.Val223Ala) c.572T>C (p.Val191Ala) n.596T>C | dbSNP gnomAD v4 |
9 | g.136673921A>T | CA375577773 | AGPAT2 | c.668T>A (p.Val223Asp) c.572T>A (p.Val191Asp) n.596T>A | gnomAD v4 |
9 | g.136673922C>A | CA375577781 | AGPAT2 | c.667G>T (p.Val223Phe) c.571G>T (p.Val191Phe) n.595G>T | gnomAD v4 |
9 | g.136673922C>G | CA201626941 | AGPAT2 | c.667G>C (p.Val223Leu) c.571G>C (p.Val191Leu) n.595G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673922C>T | CA375577791 | AGPAT2 | c.667G>A (p.Val223Ile) c.571G>A (p.Val191Ile) n.595G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673923T>A | CA467737289 | AGPAT2 | c.666A>T (p.Thr222=) c.570A>T (p.Thr190=) n.594A>T | gnomAD v4 |
9 | g.136673923T>C | CA467737292 | AGPAT2 | c.666A>G (p.Thr222=) c.570A>G (p.Thr190=) n.594A>G | gnomAD v4 |
9 | g.136673923T>G | CA467737294 | AGPAT2 | c.666A>C (p.Thr222=) c.570A>C (p.Thr190=) n.594A>C | |
9 | g.136673924_136673925del | CA2692653773 | AGPAT2 | c.665_666del (p.Thr222SerfsTer?) c.569_570del (p.Thr190SerfsTer?) n.593_594del | gnomAD v4 |
9 | g.136673924G>A | CA375577795 | AGPAT2 | c.665C>T (p.Thr222Ile) c.569C>T (p.Thr190Ile) n.593C>T | dbSNP gnomAD v4 |
9 | g.136673924G>C | CA375577796 | AGPAT2 | c.665C>G (p.Thr222Arg) c.569C>G (p.Thr190Arg) n.593C>G | gnomAD v4 |
9 | g.136673924G>T | CA375577797 | AGPAT2 | c.665C>A (p.Thr222Lys) c.569C>A (p.Thr190Lys) n.593C>A | gnomAD v4 |
9 | g.136673925T>A | CA375577802 | AGPAT2 | c.664A>T (p.Thr222Ser) c.568A>T (p.Thr190Ser) n.592A>T | gnomAD v4 |
9 | g.136673925T>C | CA375577809 | AGPAT2 | c.664A>G (p.Thr222Ala) c.568A>G (p.Thr190Ala) n.592A>G | |
9 | g.136673925T>G | CA375577811 | AGPAT2 | c.664A>C (p.Thr222Pro) c.568A>C (p.Thr190Pro) n.592A>C | |
9 | g.136673926T>A | CA467737313 | AGPAT2 | c.663A>T (p.Gly221=) c.567A>T (p.Gly189=) n.591A>T | |
9 | g.136673926T>C | CA467737314 | AGPAT2 | c.663A>G (p.Gly221=) c.567A>G (p.Gly189=) n.591A>G | |
9 | g.136673926T>G | CA467737317 | AGPAT2 | c.663A>C (p.Gly221=) c.567A>C (p.Gly189=) n.591A>C | |
9 | g.136673927C>A | CA375577813 | AGPAT2 | c.662G>T (p.Gly221Val) c.566G>T (p.Gly189Val) n.590G>T | gnomAD v4 |
9 | g.136673927C>G | CA375577816 | AGPAT2 | c.662G>C (p.Gly221Ala) c.566G>C (p.Gly189Ala) n.590G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673927C>T | CA375577822 | AGPAT2 | c.662G>A (p.Gly221Glu) c.566G>A (p.Gly189Glu) n.590G>A | gnomAD v4 |
9 | g.136673928del | CA5342858 | AGPAT2 | c.662del c.566del n.590del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673928C>A | CA375577829 | AGPAT2 | c.662-1G>T (n.662-1G>T) c.566-1G>T (n.566-1G>T) n.590-1G>T | gnomAD v4 |
9 | g.136673928C>G | CA375577832 | AGPAT2 | c.662-1G>C (n.662-1G>C) c.566-1G>C (n.566-1G>C) n.590-1G>C |