Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240878796A= | CA1339336171 | AGXT | c.1154A= (p.Gln385=) n.932A= | |
2 | g.240878796A>C | CA351319868 | AGXT | c.1154A>C (p.Gln385Pro) n.932A>C | |
2 | g.240878796A>G | CA351319869 | AGXT | c.1154A>G (p.Gln385Arg) n.932A>G | dbSNP gnomAD v4 |
2 | g.240878796A>T | CA68181111 | AGXT | c.1154A>T (p.Gln385Leu) n.932A>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240878797G>A | CA68181114 | AGXT | c.1155G>A (p.Gln385=) n.933G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878797G>C | CA351319871 | AGXT | c.1155G>C (p.Gln385His) n.933G>C | |
2 | g.240878797G= | CA1339336172 | AGXT | c.1155G= (p.Gln385=) n.933G= | |
2 | g.240878797G>T | CA351319870 | AGXT | c.1155G>T (p.Gln385His) n.933G>T | gnomAD v4 |
2 | g.240878798C>A | CA351319872 | AGXT | c.1156C>A (p.His386Asn) n.934C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240878798C= | CA1339336173 | AGXT | c.1156C= (p.His386=) n.934C= | |
2 | g.240878798C>G | CA351319873 | AGXT | c.1156C>G (p.His386Asp) n.934C>G | |
2 | g.240878798C>T | CA351319874 | AGXT | c.1156C>T (p.His386Tyr) n.934C>T | gnomAD v4 |
2 | g.240878799del | CA2586971638 | AGXT | c.1157del (p.His386ProfsTer?) n.935del | |
2 | g.240878799A>C | CA351319875 | AGXT | c.1157A>C (p.His386Pro) n.935A>C | |
2 | g.240878799A>G | CA351319876 | AGXT | c.1157A>G (p.His386Arg) n.935A>G | gnomAD v4 |
2 | g.240878799A>T | CA351319877 | AGXT | c.1157A>T (p.His386Leu) n.935A>T | |
2 | g.240878800C>A | CA351319878 | AGXT | c.1158C>A (p.His386Gln) n.936C>A | gnomAD v4 |
2 | g.240878800C>G | CA351319879 | AGXT | c.1158C>G (p.His386Gln) n.936C>G | |
2 | g.240878800C>T | CA432027224 | AGXT | c.1158C>T (p.His386=) n.936C>T | gnomAD v4 |
2 | g.240878801T>A | CA351319880 | AGXT | c.1159T>A (p.Cys387Ser) n.937T>A | |
2 | g.240878801T>C | CA351319881 | AGXT | c.1159T>C (p.Cys387Arg) n.937T>C | |
2 | g.240878801T>G | CA351319882 | AGXT | c.1159T>G (p.Cys387Gly) n.937T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878801T= | CA1339336174 | AGXT | c.1159T= (p.Cys387=) n.937T= | |
2 | g.240878802G>A | CA351319884 | AGXT | c.1160G>A (p.Cys387Tyr) n.938G>A | gnomAD v4 |
2 | g.240878802G>C | CA351319885 | AGXT | c.1160G>C (p.Cys387Ser) n.938G>C | |
2 | g.240878802G>T | CA351319883 | AGXT | c.1160G>T (p.Cys387Phe) n.938G>T | gnomAD v4 |
2 | g.240878803C>A | CA351319886 | AGXT | c.1161C>A (p.Cys387Ter) n.939C>A | ClinVar gnomAD v4 |
2 | g.240878803C>G | CA351319887 | AGXT | c.1161C>G (p.Cys387Trp) n.939C>G | |
2 | g.240878803C>T | CA432027236 | AGXT | c.1161C>T (p.Cys387=) n.939C>T | gnomAD v4 |
2 | g.240878806del | CA2664012541 | AGXT | c.1164del (p.Lys389ArgfsTer?) n.942del | gnomAD v4 |
2 | g.240878804C>A | CA351319888 | AGXT | c.1162C>A (p.Pro388Thr) n.940C>A | gnomAD v4 |
2 | g.240878804C>G | CA351319889 | AGXT | c.1162C>G (p.Pro388Ala) n.940C>G | |
2 | g.240878804C>T | CA351319890 | AGXT | c.1162C>T (p.Pro388Ser) n.940C>T | gnomAD v4 |
2 | g.240878805C>A | CA351319891 | AGXT | c.1163C>A (p.Pro388His) n.941C>A | gnomAD v4 |
2 | g.240878805C>G | CA351319892 | AGXT | c.1163C>G (p.Pro388Arg) n.941C>G | |
2 | g.240878805C>T | CA351319893 | AGXT | c.1163C>T (p.Pro388Leu) n.941C>T | |
2 | g.240878806C>A | CA432027243 | AGXT | c.1164C>A (p.Pro388=) n.942C>A | gnomAD v4 |
2 | g.240878806C= | CA1339336175 | AGXT | c.1164C= (p.Pro388=) n.942C= | |
2 | g.240878806C>G | CA432027245 | AGXT | c.1164C>G (p.Pro388=) n.942C>G | gnomAD v4 |
2 | g.240878806C>T | CA2209435 | AGXT | c.1164C>T (p.Pro388=) n.942C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240878807A>C | CA351319894 | AGXT | c.1165A>C (p.Lys389Gln) n.943A>C | |
2 | g.240878807A>G | CA351319895 | AGXT | c.1165A>G (p.Lys389Glu) n.943A>G | gnomAD v4 |
2 | g.240878807A>T | CA351319896 | AGXT | c.1165A>T (p.Lys389Ter) n.943A>T | |
2 | g.240878808A>C | CA351319898 | AGXT | c.1166A>C (p.Lys389Thr) n.944A>C | |
2 | g.240878808A>G | CA351319899 | AGXT | c.1166A>G (p.Lys389Arg) n.944A>G | |
2 | g.240878808A>T | CA351319897 | AGXT | c.1166A>T (p.Lys389Met) n.944A>T | |
2 | g.240878809G>A | CA432027253 | AGXT | c.1167G>A (p.Lys389=) n.945G>A | |
2 | g.240878809G>C | CA351319900 | AGXT | c.1167G>C (p.Lys389Asn) n.945G>C | |
2 | g.240878809G>T | CA351319901 | AGXT | c.1167G>T (p.Lys389Asn) n.945G>T | gnomAD v4 |
2 | g.240878810A= | CA1339336176 | AGXT | c.1168A= (p.Lys390=) n.946A= |