Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240868866_240871449del | CA2741808836 | AGXT | c.1_524del n.21_544del | ClinVar |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2754891881 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1189_405+1190insGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGGAACATGGGTGAGACCCAGGCCCCCCGAGTGA | |
2 | g.240869049_240869122dup | CA275557 | AGXT | c.165+19_166-48dup (n.165+19_166-48dup) n.185+19_186-48dup n.405+1116_405+1189dup | ClinVar dbSNP |
2 | g.240869045_240869152dup | CA915948958 | AGXT | c.165+15_166-18dup (n.165+15_166-18dup) n.185+15_186-18dup n.405+1082_405+1189dup | |
2 | g.240869085_240869086insGTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG | CA2664005079 | AGXT | c.165+55_165+56insGTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG (n.165+55_165+56insGTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG) n.185+55_185+56insGTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGACCTGTGGGTGGG | gnomAD v4 |
2 | g.240869085_240869086insCTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG | CA2664005084 | AGXT | c.165+55_165+56insCTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG (n.165+55_165+56insCTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG) n.185+55_185+56insCTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGAGCTGTGGGTGGG | gnomAD v4 |
2 | g.240869085_240869086insTTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG | CA2664005078 | AGXT | c.165+55_165+56insTTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG (n.165+55_165+56insTTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG) n.185+55_185+56insTTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGAACTGTGGGTGGG | gnomAD v4 |
2 | g.240869086_240869087insGCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGA | CA916813751 | AGXT | c.165+56_165+57insGCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGA (n.165+56_165+57insGCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGA) n.185+56_185+57insGCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGA n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGCTCTGTGGGTGGG | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869086_240869087insCCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGA | CA2664005137 | AGXT | c.165+56_165+57insCCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGA (n.165+56_165+57insCCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGA) n.185+56_185+57insCCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGA n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGGTCTGTGGGTGGG | gnomAD v4 |
2 | g.240869088_240869089insACGGAAGGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC | CA2664005131 | AGXT | c.165+58_165+59insACGGAAGGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC) n.185+58_185+59insACGGAAGGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCTCCCCCTTCCGTGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869088_240869089insACGGAAGAGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC | CA1044064830 | AGXT | c.165+58_165+59insACGGAAGAGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC) n.185+58_185+59insACGGAAGAGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCTCCCTCTTCCGTGATCTGTGGGTGGG | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869088_240869089insACGGAAGAGGGGAGGGGTCACCGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC | CA2607663585 | AGXT | c.165+58_165+59insACGGAAGAGGGGAGGGGTCACCGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGGAGGGGTCACCGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC) n.185+58_185+59insACGGAAGAGGGGAGGGGTCACCGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCGGTGACCCCTCCCCTCTTCCGTGATCTGTGGGTGGG | gnomAD v3 gnomAD v4 |
2 | g.240869088_240869089insAGGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC | CA1044064825 | AGXT | c.165+58_165+59insAGGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insAGGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC) n.185+58_185+59insAGGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCTCCCCTCTTCCCTGATCTGTGGGTGGG | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869088_240869089insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGAGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC | CA1044064827 | AGXT | c.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGAGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGAGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC) n.185+58_185+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGAGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCTCCGAGTGAGGAAGCAGTGACCCCTCCCCTCTTCCGTGATCTGTGGGTGGG | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869088_240869089insACGGAAGAGGGGAGGGGGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC | CA1044064828 | AGXT | c.165+58_165+59insACGGAAGAGGGGAGGGGGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGGAGGGGGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC) n.185+58_185+59insACGGAAGAGGGGAGGGGGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGCCCCCTCCCCTCTTCCGTGATCTGTGGGTGGG | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869088_240869089insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC | CA2209005 | AGXT | c.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC) n.185+58_185+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCTCCCCTCTTCCGTGATCTGTGGGTGGG | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869088_240869089insACGGAAGAGGGGAGGGGTCACTGCTTCCTCAGTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC | CA1044064826 | AGXT | c.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCAGTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCAGTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC) n.185+58_185+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCAGTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGACTGAGGAAGCAGTGACCCCTCCCCTCTTCCGTGATCTGTGGGTGGG | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869088_240869089insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCTGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC | CA2664005132 | AGXT | c.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCTGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCTGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC) n.185+58_185+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCTGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCAGAGTGAGGAAGCAGTGACCCCTCCCCTCTTCCGTGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869088_240869089insACGGAAGAGGGGAGGGGACACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC | CA1044064829 | AGXT | c.165+58_165+59insACGGAAGAGGGGAGGGGACACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGGAGGGGACACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC) n.185+58_185+59insACGGAAGAGGGGAGGGGACACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGTCCCCTCCCCTCTTCCGTGATCTGTGGGTGGG | gnomAD v3 gnomAD v4 |
2 | g.240869088_240869089insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATC | CA2209007 | AGXT | c.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATC) n.185+58_185+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGACCCCCGAGTGAGGAAGCAGTGACCCCTCCCCTCTTCCGTGATCTGTGGGTGGG | ExAC gnomAD v4 |
2 | g.240869088_240869089insACGGAAGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC | CA2664005134 | AGXT | c.165+58_165+59insACGGAAGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC) n.185+58_185+59insACGGAAGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCTTCCGTGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869088_240869089insATGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC | CA2754891892 | AGXT | c.165+58_165+59insATGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insATGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC) n.185+58_185+59insATGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCATGATCTGTGGGTGGG | |
2 | g.240869088_240869089insACGGAAGAGGGGAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC | CA2664005133 | AGXT | c.165+58_165+59insACGGAAGAGGGGAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGGAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC) n.185+58_185+59insACGGAAGAGGGGAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTCCCCTCTTCCGTGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869089_240869090insGGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCG | CA2664005125 | AGXT | c.165+59_165+60insGGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCG (n.165+59_165+60insGGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCG) n.185+59_185+60insGGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCCCGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869089_240869090insAGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCG | CA2664005130 | AGXT | c.165+59_165+60insAGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCG (n.165+59_165+60insAGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCG) n.185+59_185+60insAGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCTCGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869091_240869092insAACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTG | CA2664005120 | AGXT | c.165+61_165+62insAACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTG (n.165+61_165+62insAACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTG) n.185+61_185+62insAACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTTCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869091_240869092insTACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTG | CA2664005085 | AGXT | c.165+61_165+62insTACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTG (n.165+61_165+62insTACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTG) n.185+61_185+62insTACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTACACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869092_240869093insCCGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGG | CA1044064798 | AGXT | c.165+62_165+63insCCGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGG (n.165+62_165+63insCCGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGG) n.185+62_185+63insCCGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGGCCACGATCTGTGGGTGGG | gnomAD v3 gnomAD v4 |
2 | g.240869092_240869093insGCGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGG | CA2664005075 | AGXT | c.165+62_165+63insGCGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGG (n.165+62_165+63insGCGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGG) n.185+62_185+63insGCGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGCCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869093_240869094insTGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGA | CA1044064800 | AGXT | c.165+63_165+64insTGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGA (n.165+63_165+64insTGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGA) n.185+63_185+64insTGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGA n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCATCCACGATCTGTGGGTGGG | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869095_240869096insGGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACG | CA2664005094 | AGXT | c.165+65_165+66insGGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACG (n.165+65_165+66insGGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACG) n.185+65_185+66insGGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCCCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869096_240869097insTGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGA | CA2664005096 | AGXT | c.165+66_165+67insTGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGA (n.165+66_165+67insTGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGA) n.185+66_185+67insTGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGA n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCATCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869098_240869099insAAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGG | CA2664005116 | AGXT | c.165+68_165+69insAAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGG (n.165+68_165+69insAAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGG) n.185+68_185+69insAAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTTCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869098_240869099insCAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGG | CA2664005198 | AGXT | c.165+68_165+69insCAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGG (n.165+68_165+69insCAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGG) n.185+68_185+69insCAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTGCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869099_240869100insGAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGG | CA2664005098 | AGXT | c.165+69_166-70insGAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGG (n.165+69_166-70insGAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGG) n.185+69_186-70insGAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTCCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869100_240869101insCGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA | CA2664005109 | AGXT | c.166-70_166-69insCGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA (n.166-70_166-69insCGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA) n.186-70_186-69insCGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCGTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869100_240869101insTGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA | CA2664005105 | AGXT | c.166-70_166-69insTGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA (n.166-70_166-69insTGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA) n.186-70_186-69insTGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCATCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869100_240869101insGGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA | CA1044064803 | AGXT | c.166-70_166-69insGGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA (n.166-70_166-69insGGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA) n.186-70_186-69insGGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCCTCCCTCGTCCACGATCTGTGGGTGGG | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869101_240869102insAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAA | CA2664005149 | AGXT | c.166-69_166-68insAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAA (n.166-69_166-68insAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAA) n.186-69_186-68insAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAA n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCTTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869103_240869104insCGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG | CA2754891891 | AGXT | c.166-67_166-66insCGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG (n.166-67_166-66insCGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG) n.186-67_186-66insCGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCGCCTTCCCTCGTCCACGATCTGTGGGTGGG | |
2 | g.240869103_240869104insAGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG | CA2664005195 | AGXT | c.166-67_166-66insAGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG (n.166-67_166-66insAGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG) n.186-67_186-66insAGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCTCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869103_240869104insTGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG | CA2664005111 | AGXT | c.166-67_166-66insTGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG (n.166-67_166-66insTGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG) n.186-67_186-66insTGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCACCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869103_240869104insTGGGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG | CA1044064807 | AGXT | c.166-67_166-66insTGGGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG (n.166-67_166-66insTGGGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG) n.186-67_186-66insTGGGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGCCCACCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v3 gnomAD v4 |
2 | g.240869105_240869106insCTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG | CA1044064823 | AGXT | c.166-65_166-64insCTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG (n.166-65_166-64insCTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG) n.186-65_186-64insCTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGAGCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v3 gnomAD v4 |
2 | g.240869105_240869106insATCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG | CA1044064824 | AGXT | c.166-65_166-64insATCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG (n.166-65_166-64insATCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG) n.186-65_186-64insATCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGATCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869105_240869106insTTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG | CA1044064811 | AGXT | c.166-65_166-64insTTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG (n.166-65_166-64insTTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG) n.186-65_186-64insTTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGAACCCCTTCCCTCGTCCACGATCTGTGGGTGGG | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869106_240869107insACACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG | CA2664005191 | AGXT | c.166-64_166-63insACACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG (n.166-64_166-63insACACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG) n.186-64_186-63insACACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGTCCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869106_240869107insGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG | CA1044064822 | AGXT | c.166-64_166-63insGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG (n.166-64_166-63insGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG) n.186-64_186-63insGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGCCCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v3 gnomAD v4 |
2 | g.240869106_240869107insCCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG | CA2664005188 | AGXT | c.166-64_166-63insCCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG (n.166-64_166-63insCCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG) n.186-64_186-63insCCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGGCCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869106_240869107insCCTCTGCGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG | CA2664005180 | AGXT | c.166-64_166-63insCCTCTGCGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG (n.166-64_166-63insCCTCTGCGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG) n.186-64_186-63insCCTCTGCGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGACGCAGAGGCCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869106_240869107insGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG | CA2664005173 | AGXT | c.166-64_166-63insGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG (n.166-64_166-63insGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG) n.186-64_186-63insGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869110_240869111insCGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCAC | CA1044064789 | AGXT | c.166-60_166-59insCGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCAC (n.166-60_166-59insCGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCAC) n.186-60_186-59insCGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCAC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCGGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v3 gnomAD v4 |
2 | g.240869110_240869111insGGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCAC | CA2664005201 | AGXT | c.166-60_166-59insGGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCAC (n.166-60_166-59insGGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCAC) n.186-60_186-59insGGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCAC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCCGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005146 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005154 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACGCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005164 | AGXT | c.166-57_166-56insTTCCTCACGCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACGCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACGCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGCGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGGCTGGGTCTGACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005060 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGGCTGGGTCTGACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGGCTGGGTCTGACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGGCTGGGTCTGACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTCAGACCCAGCCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGATCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005151 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGATCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGATCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGATCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGATCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGCCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2505547104 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGCCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGCCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGCCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGGCCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | |
2 | g.240869113_240869114insGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005170 | AGXT | c.166-57_166-56insGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGACGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTCCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA1044064821 | AGXT | c.166-57_166-56insTCCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTCCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTCCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGGAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v3 gnomAD v4 |
2 | g.240869113_240869114insTTCCACACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2754891890 | AGXT | c.166-57_166-56insTTCCACACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCACACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCACACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGTGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | |
2 | g.240869113_240869114insTTCCTCTCTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA1044064814 | AGXT | c.166-57_166-56insTTCCTCTCTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCTCTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCTCTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGAGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v3 gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGACCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005158 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGACCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGACCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGACCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGTCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCCCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005073 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCCCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCCCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCCCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGGGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACACCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005069 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACACCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACACCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACACCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGTGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCAGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005161 | AGXT | c.166-57_166-56insTTCCTCACTCAGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCAGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCAGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCTGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTTTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005062 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTTTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTTTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTTTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAAACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCATCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005064 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCATCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCATCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCATCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGATGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTTGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA1044064815 | AGXT | c.166-57_166-56insTTCCTCACTTGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTTGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTTGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCAAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCACTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005068 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCACTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCACTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCACTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGTGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005059 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGACCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTGCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA540752881 | AGXT | c.166-57_166-56insTGCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTGCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTGCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGCAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | dbSNP gnomAD v2 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCAACCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005071 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCAACCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCAACCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCAACCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGTTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA1044064816 | AGXT | c.166-57_166-56insTTCCTCACTGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCCAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v3 gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGTGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2754891888 | AGXT | c.166-57_166-56insTTCCTCACTCGTGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGTGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGTGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCACGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | |
2 | g.240869113_240869114insTTCCTCACTCGGGGTGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005056 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGTGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGTGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGTGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCACCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTGACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005063 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTGACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTGACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTGACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTCAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGGCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA1044064820 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGGCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGGCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGGCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGCCCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v3 gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTATACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005066 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTATACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTATACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTATACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTATAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2209004 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCTCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005052 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCTCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCTCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCTCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGAGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTTTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005065 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTTTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTTTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTTTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTAAAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005061 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTATCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005250 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTATCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTATCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTATCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1157_405+1158insATACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACACACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005253 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACACACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACACACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACACACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1156_405+1157insTGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCTACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005256 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCTACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCTACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCTACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1155_405+1156insAGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGT | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCATCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2510054526 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCATCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCATCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCATCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1153_405+1154insATGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGG | |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACTCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005270 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACTCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACTCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACTCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1152_405+1153insAGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTG | gnomAD v4 |
2 | g.240869084A= | CA1339330856 | AGXT | c.165+54A= (n.165+54A=) n.185+54A= n.405+1149T= | |
2 | g.240869084A>G | CA766960526 | AGXT | c.165+54A>G (n.165+54A>G) n.185+54A>G n.405+1149T>C | dbSNP |
2 | g.240869085G>A | CA68173611 | AGXT | c.165+55G>A (n.165+55G>A) n.185+55G>A n.405+1148C>T | dbSNP gnomAD v4 |
2 | g.240869085G= | CA1339330857 | AGXT | c.165+55G= (n.165+55G=) n.185+55G= n.405+1148C= | |
2 | g.240869085G>T | CA1339330858 | AGXT | c.165+55G>T (n.165+55G>T) n.185+55G>T n.405+1148C>A | dbSNP |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACGGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005279 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACGGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACGGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACGGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1148_405+1149insCGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATC | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACCGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005276 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACCGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACCGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACCGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1148_405+1149insGGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATC | gnomAD v4 |
2 | g.240869086A>G | CA2664005281 | AGXT | c.165+56A>G (n.165+56A>G) n.185+56A>G n.405+1147T>C | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACATATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005280 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACATATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACATATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACATATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1147_405+1148insATGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGAT | gnomAD v4 |
2 | g.240869087T>A | CA540752882 | AGXT | c.165+57T>A (n.165+57T>A) n.185+57T>A n.405+1146A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869087T= | CA1339330859 | AGXT | c.165+57T= (n.165+57T=) n.185+57T= n.405+1146A= | |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGCTCGTGGACGAGGGAAGGGGGTCACTGC | CA1044064832 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGCTCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGCTCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGCTCGTGGACGAGGGAAGGGGGTCACTGC n.405+1146_405+1147insGCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGA | gnomAD v3 gnomAD v4 |
2 | g.240869088C= | CA1339330860 | AGXT | c.165+58C= (n.165+58C=) n.185+58C= n.405+1145G= | |
2 | g.240869088C>T | CA540752883 | AGXT | c.165+58C>T (n.165+58C>T) n.185+58C>T n.405+1145G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGAGCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005283 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGAGCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGAGCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGAGCGTGGACGAGGGAAGGGGGTCACTGC n.405+1145_405+1146insCTCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACG | gnomAD v4 |
2 | g.240869088_240869089insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATT | CA1044064833 | AGXT | c.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATT (n.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATT) n.185+58_185+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATT n.405+1144_405+1145insAATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCTCCCCTCTTCCGT | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869089G>A | CA68173613 | AGXT | c.165+59G>A (n.165+59G>A) n.185+59G>A n.405+1144C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869089G>C | CA2664005289 | AGXT | c.165+59G>C (n.165+59G>C) n.185+59G>C n.405+1144C>G | gnomAD v4 |
2 | g.240869089G= | CA1339330861 | AGXT | c.165+59G= (n.165+59G=) n.185+59G= n.405+1144C= | |
2 | g.240869089_240869090delinsAC | CA68173635 | AGXT | c.165+59_165+60delinsAC (n.165+59_165+60delinsAC) n.185+59_185+60delinsAC n.405+1143_405+1144delinsGT | dbSNP |
2 | g.240869089_240869090delinsGT | CA1339330862 | AGXT | c.165+59_165+60delinsGT (n.165+59_165+60delinsGT) n.185+59_185+60delinsGT n.405+1143_405+1144delinsAC | |
2 | g.240869089_240869092del | CA1044064834 | AGXT | c.165+59_165+62del (n.165+59_165+62del) n.185+59_185+62del n.405+1141_405+1144del | gnomAD v3 gnomAD v4 |
2 | g.240869090T>C | CA540752884 | AGXT | c.165+60T>C (n.165+60T>C) n.185+60T>C n.405+1143A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869090T>G | CA766960541 | AGXT | c.165+60T>G (n.165+60T>G) n.185+60T>G n.405+1143A>C | dbSNP |
2 | g.240869090T= | CA1339330863 | AGXT | c.165+60T= (n.165+60T=) n.185+60T= n.405+1143A= | |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCATGGACGAGGGAAGGGGGTCACTGC | CA2664005295 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCATGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCATGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCATGGACGAGGGAAGGGGGTCACTGC n.405+1143_405+1144insTGATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCA | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCTTGGACGAGGGAAGGGGGTCACTGC | CA2664005294 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCTTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCTTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCTTGGACGAGGGAAGGGGGTCACTGC n.405+1143_405+1144insAGATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCA | gnomAD v4 |
2 | g.240869091G>A | CA2664005297 | AGXT | c.165+61G>A (n.165+61G>A) n.185+61G>A n.405+1142C>T | gnomAD v4 |
2 | g.240869092G>A | CA2577302117 | AGXT | c.165+62G>A (n.165+62G>A) n.185+62G>A n.405+1141C>T | |
2 | g.240869094C>A | CA68173639 | AGXT | c.165+64C>A (n.165+64C>A) n.185+64C>A n.405+1139G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869094C= | CA1339330864 | AGXT | c.165+64C= (n.165+64C=) n.185+64C= n.405+1139G= | |
2 | g.240869094C>T | CA766960545 | AGXT | c.165+64C>T (n.165+64C>T) n.185+64C>T n.405+1139G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGCCGAGGGAAGGGGGTCACTGC | CA2754891895 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGCCGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGCCGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGCCGAGGGAAGGGGGTCACTGC n.405+1139_405+1140insGCCACGATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCG | |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGTCGAGGGAAGGGGGTCACTGC | CA2664005302 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGTCGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGTCGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGTCGAGGGAAGGGGGTCACTGC n.405+1139_405+1140insACCACGATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCG | gnomAD v4 |
2 | g.240869095G>A | CA68173641 | AGXT | c.165+65G>A (n.165+65G>A) n.185+65G>A n.405+1138C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869095G= | CA1339330865 | AGXT | c.165+65G= (n.165+65G=) n.185+65G= n.405+1138C= | |
2 | g.240869096_240869098del | CA2664005305 | AGXT | c.165+66_165+68del (n.165+66_165+68del) n.185+66_185+68del n.405+1136_405+1138del | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGATGAGGGAAGGGGGTCACTGC | CA2754891897 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGATGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGATGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGATGAGGGAAGGGGGTCACTGC n.405+1138_405+1139insATCCACGATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTC | |
2 | g.240869096A= | CA1339330867 | AGXT | c.165+66A= (n.165+66A=) n.185+66A= n.405+1137T= | |
2 | g.240869096A>G | CA2664005313 | AGXT | c.165+66A>G (n.165+66A>G) n.185+66A>G n.405+1137T>C | gnomAD v4 |
2 | g.240869096A>T | CA1044064837 | AGXT | c.165+66A>T (n.165+66A>T) n.185+66A>T n.405+1137T>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869096_240869097delinsAG | CA1339330866 | AGXT | c.165+66_165+67delinsAG (n.165+66_165+67delinsAG) n.185+66_185+67delinsAG n.405+1136_405+1137delinsCT | |
2 | g.240869097G>A | CA540752885 | AGXT | c.165+67G>A (n.165+67G>A) n.185+67G>A n.405+1136C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869097G= | CA1339330868 | AGXT | c.165+67G= (n.165+67G=) n.185+67G= n.405+1136C= | |
2 | g.240869097G>T | CA2577302121 | AGXT | c.165+67G>T (n.165+67G>T) n.185+67G>T n.405+1136C>A | |
2 | g.240869099del | CA766960547 | AGXT | c.165+69del (n.165+69del) n.185+69del n.405+1136del | dbSNP |
2 | g.240869099_240869102delinsGAAG | CA1339330869 | AGXT | c.165+69_166-68delinsGAAG (n.165+69_166-68delinsGAAG) n.185+69_186-68delinsGAAG n.405+1131_405+1134delinsCTTC | |
2 | g.240869100A= | CA1339330870 | AGXT | c.166-70A= (n.166-70A=) n.186-70A= n.405+1133T= | |
2 | g.240869100A>G | CA540752886 | AGXT | c.166-70A>G (n.166-70A>G) n.186-70A>G n.405+1133T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869100_240869102delinsGA | CA68173644 | AGXT | c.166-70_166-68delinsGA (n.166-70_166-68delinsGA) n.186-70_186-68delinsGA n.405+1131_405+1133delinsTC | dbSNP |
2 | g.240869101A>C | CA2664005318 | AGXT | c.166-69A>C (n.166-69A>C) n.186-69A>C n.405+1132T>G | gnomAD v4 |
2 | g.240869101A>G | CA2754891898 | AGXT | c.166-69A>G (n.166-69A>G) n.186-69A>G n.405+1132T>C | |
2 | g.240869101_240869102delinsAG | CA1339330871 | AGXT | c.166-69_166-68delinsAG (n.166-69_166-68delinsAG) n.186-69_186-68delinsAG n.405+1131_405+1132delinsCT | |
2 | g.240869102G>A | CA766960553 | AGXT | c.166-68G>A (n.166-68G>A) n.186-68G>A n.405+1131C>T | dbSNP |
2 | g.240869102G= | CA1339330872 | AGXT | c.166-68G= (n.166-68G=) n.186-68G= n.405+1131C= | |
2 | g.240869106del | CA68173646 | AGXT | c.166-64del (n.166-64del) n.186-64del n.405+1131del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGACGGGGGTCACTGC | CA2664005323 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGACGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGACGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGACGGGGGTCACTGC n.405+1131_405+1132insGTCCCTCGTCCACGATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCC | gnomAD v4 |
2 | g.240869103G>A | CA68173648 | AGXT | c.166-67G>A (n.166-67G>A) n.186-67G>A n.405+1130C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869103G= | CA1339330873 | AGXT | c.166-67G= (n.166-67G=) n.186-67G= n.405+1130C= | |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGAAAGGGGTCACTGC | CA1044064843 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGAAAGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGAAAGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGAAAGGGGTCACTGC n.405+1130_405+1131insTTTCCTCGTCCACGATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCC | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869105_240869108dup | CA2664005335 | AGXT | c.166-65_166-62dup (n.166-65_166-62dup) n.186-65_186-62dup n.405+1125_405+1128dup | gnomAD v4 |
2 | g.240869106G>A | CA766960554 | AGXT | c.166-64G>A (n.166-64G>A) n.186-64G>A n.405+1127C>T | dbSNP gnomAD v4 |
2 | g.240869106G= | CA1339330874 | AGXT | c.166-64G= (n.166-64G=) n.186-64G= n.405+1127C= | |
2 | g.240869106G>T | CA1339330875 | AGXT | c.166-64G>T (n.166-64G>T) n.186-64G>T n.405+1127C>A | dbSNP gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGAGTCACTGC | CA2557481665 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGAGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGAGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGAGTCACTGC n.405+1127_405+1128insTCCCTTCCCTCGTCCACGATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGAC | |
2 | g.240869108C>A | CA2664005347 | AGXT | c.166-62C>A (n.166-62C>A) n.186-62C>A n.405+1125G>T | gnomAD v4 |
2 | g.240869108C= | CA1339330876 | AGXT | c.166-62C= (n.166-62C=) n.186-62C= n.405+1125G= | |
2 | g.240869108C>T | CA540752887 | AGXT | c.166-62C>T (n.166-62C>T) n.186-62C>T n.405+1125G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGGCACTGC | CA1044064847 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGGCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGGCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGGCACTGC n.405+1125_405+1126insCCCCCCTTCCCTCGTCCACGATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTG | gnomAD v3 gnomAD v4 |
2 | g.240869110C>T | CA2664005355 | AGXT | c.166-60C>T (n.166-60C>T) n.186-60C>T n.405+1123G>A | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGAGCGGGGACGAGGGAAGGGGGGCCCTGC | CA2754891900 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGAGCGGGGACGAGGGAAGGGGGGCCCTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGAGCGGGGACGAGGGAAGGGGGGCCCTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGAGCGGGGACGAGGGAAGGGGGGCCCTGC n.405+1123_405+1124insGGCCCCCCTTCCCTCGTCCCCGCTCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAG | |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGCCGAGGGAAGGGGGTCAGTGC | CA2754891901 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGCCGAGGGAAGGGGGTCAGTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGCCGAGGGAAGGGGGTCAGTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGCCGAGGGAAGGGGGTCAGTGC n.405+1122_405+1123insCTGACCCCCTTCCCTCGGCCACGATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCA | |
2 | g.240869112G>C | CA766960561 | AGXT | c.166-58G>C (n.166-58G>C) n.186-58G>C n.405+1121C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869112G= | CA1339330877 | AGXT | c.166-58G= (n.166-58G=) n.186-58G= n.405+1121C= | |
2 | g.240869112G>T | CA2664005359 | AGXT | c.166-58G>T (n.166-58G>T) n.186-58G>T n.405+1121C>A | gnomAD v4 |
2 | g.240869113C>A | CA2664005369 | AGXT | c.166-57C>A (n.166-57C>A) n.186-57C>A n.405+1120G>T | gnomAD v4 |
2 | g.240869113C= | CA1339330878 | AGXT | c.166-57C= (n.166-57C=) n.186-57C= n.405+1120G= | |
2 | g.240869113C>T | CA275555 | AGXT | c.166-57C>T (n.166-57C>T) n.186-57C>T n.405+1120G>A | ClinVar dbSNP gnomAD v4 |
2 | g.240869113_240869114insTT | CA2664005376 | AGXT | c.166-57_166-56insTT (n.166-57_166-56insTT) n.186-57_186-56insTT n.405+1119_405+1120insAA | gnomAD v4 |
2 | g.240869114C= | CA1339330879 | AGXT | c.166-56C= (n.166-56C=) n.186-56C= n.405+1119G= | |
2 | g.240869114C>G | CA2664005379 | AGXT | c.166-56C>G (n.166-56C>G) n.186-56C>G n.405+1119G>C | gnomAD v4 |
2 | g.240869114C>T | CA275556 | AGXT | c.166-56C>T (n.166-56C>T) n.186-56C>T n.405+1119G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869114_240869115insCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCT | CA2664005384 | AGXT | c.166-56_166-55insCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCT (n.166-56_166-55insCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCT) n.186-56_186-55insCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCT n.405+1118_405+1119insAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAG | gnomAD v4 |
2 | g.240869115T>C | CA1339330881 | AGXT | c.166-55T>C (n.166-55T>C) n.186-55T>C n.405+1118A>G | dbSNP |
2 | g.240869115T= | CA1339330880 | AGXT | c.166-55T= (n.166-55T=) n.186-55T= n.405+1118A= | |
2 | g.240869116C= | CA1339330882 | AGXT | c.166-54C= (n.166-54C=) n.186-54C= n.405+1117G= | |
2 | g.240869116C>G | CA1339330883 | AGXT | c.166-54C>G (n.166-54C>G) n.186-54C>G n.405+1117G>C | dbSNP gnomAD v4 |
2 | g.240869116C>T | CA275560 | AGXT | c.166-54C>T (n.166-54C>T) n.186-54C>T n.405+1117G>A | ClinVar dbSNP gnomAD v4 |
2 | g.240869116_240869144delinsCCTCACTTGGGGAGGCGGGGAGCCTGGGT | CA1339330884 | AGXT | c.166-54_166-26delinsCCTCACTTGGGGAGGCGGGGAGCCTGGGT (n.166-54_166-26delinsCCTCACTTGGGGAGGCGGGGAGCCTGGGT) n.186-54_186-26delinsCCTCACTTGGGGAGGCGGGGAGCCTGGGT n.405+1089_405+1117delinsACCCAGGCTCCCCGCCTCCCCAAGTGAGG | |
2 | g.240869122_240869149del | CA1339330885 | AGXT | c.166-48_166-21del (n.166-48_166-21del) n.186-48_186-21del n.405+1089_405+1116del | dbSNP gnomAD v4 |
2 | g.240869119C>T | CA2664005396 | AGXT | c.166-51C>T (n.166-51C>T) n.186-51C>T n.405+1114G>A | gnomAD v4 |
2 | g.240869120A>T | CA2664005397 | AGXT | c.166-50A>T (n.166-50A>T) n.186-50A>T n.405+1113T>A | gnomAD v4 |
2 | g.240869121C>A | CA2209010 | AGXT | c.166-49C>A (n.166-49C>A) n.186-49C>A n.405+1112G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869121C= | CA1339330886 | AGXT | c.166-49C= (n.166-49C=) n.186-49C= n.405+1112G= | |
2 | g.240869121C>T | CA2664005400 | AGXT | c.166-49C>T (n.166-49C>T) n.186-49C>T n.405+1112G>A | gnomAD v4 |
2 | g.240869121_240869129delinsCTTGGGGAG | CA1339330887 | AGXT | c.166-49_166-41delinsCTTGGGGAG (n.166-49_166-41delinsCTTGGGGAG) n.186-49_186-41delinsCTTGGGGAG n.405+1104_405+1112delinsCTCCCCAAG | |
2 | g.240869122T>A | CA2209013 | AGXT | c.166-48T>A (n.166-48T>A) n.186-48T>A n.405+1111A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240869122T>C | CA2209012 | AGXT | c.166-48T>C (n.166-48T>C) n.186-48T>C n.405+1111A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240869122T= | CA1339330889 | AGXT | c.166-48T= (n.166-48T=) n.186-48T= n.405+1111A= | |
2 | g.240869122_240869129del | CA1339330888 | AGXT | c.166-48_166-41del (n.166-48_166-41del) n.186-48_186-41del n.405+1104_405+1111del | dbSNP |
2 | g.240869122_240869130delinsTTGGGGAGG | CA1339330890 | AGXT | c.166-48_166-40delinsTTGGGGAGG (n.166-48_166-40delinsTTGGGGAGG) n.186-48_186-40delinsTTGGGGAGG n.405+1103_405+1111delinsCCTCCCCAA | |
2 | g.240869123T>C | CA275561 | AGXT | c.166-47T>C (n.166-47T>C) n.186-47T>C n.405+1110A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869123T= | CA1339330891 | AGXT | c.166-47T= (n.166-47T=) n.186-47T= n.405+1110A= | |
2 | g.240869123_240869130del | CA2209011 | AGXT | c.166-47_166-40del (n.166-47_166-40del) n.186-47_186-40del n.405+1103_405+1110del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869130_240869137dup | CA1339330892 | AGXT | c.166-40_166-33dup (n.166-40_166-33dup) n.186-40_186-33dup n.405+1102_405+1109dup | dbSNP |
2 | g.240869125G>A | CA1044064863 | AGXT | c.166-45G>A (n.166-45G>A) n.186-45G>A n.405+1108C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869125G>C | CA2664005420 | AGXT | c.166-45G>C (n.166-45G>C) n.186-45G>C n.405+1108C>G | gnomAD v4 |
2 | g.240869125G= | CA1339330893 | AGXT | c.166-45G= (n.166-45G=) n.186-45G= n.405+1108C= | |
2 | g.240869127G>A | CA2209015 | AGXT | c.166-43G>A (n.166-43G>A) n.186-43G>A n.405+1106C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869127G= | CA1339330894 | AGXT | c.166-43G= (n.166-43G=) n.186-43G= n.405+1106C= | |
2 | g.240869127_240869128delinsGA | CA1339330895 | AGXT | c.166-43_166-42delinsGA (n.166-43_166-42delinsGA) n.186-43_186-42delinsGA n.405+1105_405+1106delinsTC | |
2 | g.240869128del | CA2209014 | AGXT | c.166-42del (n.166-42del) n.186-42del n.405+1105del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869128A= | CA1339330896 | AGXT | c.166-42A= (n.166-42A=) n.186-42A= n.405+1105T= | |
2 | g.240869128A>G | CA2209016 | AGXT | c.166-42A>G (n.166-42A>G) n.186-42A>G n.405+1105T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869130G>A | CA2577302153 | AGXT | c.166-40G>A (n.166-40G>A) n.186-40G>A n.405+1103C>T | |
2 | g.240869130G>C | CA2209017 | AGXT | c.166-40G>C (n.166-40G>C) n.186-40G>C n.405+1103C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869130G= | CA1339330897 | AGXT | c.166-40G= (n.166-40G=) n.186-40G= n.405+1103C= | |
2 | g.240869131C= | CA1339330898 | AGXT | c.166-39C= (n.166-39C=) n.186-39C= n.405+1102G= | |
2 | g.240869131C>G | CA1339330899 | AGXT | c.166-39C>G (n.166-39C>G) n.186-39C>G n.405+1102G>C | dbSNP gnomAD v4 |
2 | g.240869131C>T | CA2209018 | AGXT | c.166-39C>T (n.166-39C>T) n.186-39C>T n.405+1102G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869132G>A | CA2209020 | AGXT | c.166-38G>A (n.166-38G>A) n.186-38G>A n.405+1101C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240869132G= | CA1339330900 | AGXT | c.166-38G= (n.166-38G=) n.186-38G= n.405+1101C= | |
2 | g.240869132G>T | CA2209019 | AGXT | c.166-38G>T (n.166-38G>T) n.186-38G>T n.405+1101C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240869133G>T | CA2577302157 | AGXT | c.166-37G>T (n.166-37G>T) n.186-37G>T n.405+1100C>A | |
2 | g.240869134G>T | CA2664005457 | AGXT | c.166-36G>T (n.166-36G>T) n.186-36G>T n.405+1099C>A | gnomAD v4 |
2 | g.240869135G>A | CA2577302158 | AGXT | c.166-35G>A (n.166-35G>A) n.186-35G>A n.405+1098C>T | |
2 | g.240869135G= | CA1339330901 | AGXT | c.166-35G= (n.166-35G=) n.186-35G= n.405+1098C= | |
2 | g.240869135G>T | CA540752888 | AGXT | c.166-35G>T (n.166-35G>T) n.186-35G>T n.405+1098C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869136A= | CA1339330902 | AGXT | c.166-34A= (n.166-34A=) n.186-34A= n.405+1097T= | |
2 | g.240869136A>C | CA2754891906 | AGXT | c.166-34A>C (n.166-34A>C) n.186-34A>C n.405+1097T>G | |
2 | g.240869136A>G | CA2209021 | AGXT | c.166-34A>G (n.166-34A>G) n.186-34A>G n.405+1097T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.240869137G>A | CA1339330904 | AGXT | c.166-33G>A (n.166-33G>A) n.186-33G>A n.405+1096C>T | dbSNP |
2 | g.240869137G= | CA1339330903 | AGXT | c.166-33G= (n.166-33G=) n.186-33G= n.405+1096C= | |
2 | g.240869137G>T | CA2209022 | AGXT | c.166-33G>T (n.166-33G>T) n.186-33G>T n.405+1096C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869138C= | CA1339330905 | AGXT | c.166-32C= (n.166-32C=) n.186-32C= n.405+1095G= | |
2 | g.240869138C>G | CA1044064881 | AGXT | c.166-32C>G (n.166-32C>G) n.186-32C>G n.405+1095G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869138C>T | CA2664005475 | AGXT | c.166-32C>T (n.166-32C>T) n.186-32C>T n.405+1095G>A | gnomAD v4 |
2 | g.240869142G>A | CA540752889 | AGXT | c.166-28G>A (n.166-28G>A) n.186-28G>A n.405+1091C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240869142G= | CA1339330906 | AGXT | c.166-28G= (n.166-28G=) n.186-28G= n.405+1091C= | |
2 | g.240869143G>T | CA2577302160 | AGXT | c.166-27G>T (n.166-27G>T) n.186-27G>T n.405+1090C>A | |
2 | g.240869144T>C | CA2577302162 | AGXT | c.166-26T>C (n.166-26T>C) n.186-26T>C n.405+1089A>G | |
2 | g.240869145C= | CA1339330907 | AGXT | c.166-25C= (n.166-25C=) n.186-25C= n.405+1088G= | |
2 | g.240869145C>T | CA2209023 | AGXT | c.166-25C>T (n.166-25C>T) n.186-25C>T n.405+1088G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869147C= | CA1339330908 | AGXT | c.166-23C= (n.166-23C=) n.186-23C= n.405+1086G= | |
2 | g.240869147C>T | CA2209024 | AGXT | c.166-23C>T (n.166-23C>T) n.186-23C>T n.405+1086G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869148A>T | CA2664005491 | AGXT | c.166-22A>T (n.166-22A>T) n.186-22A>T n.405+1085T>A | gnomAD v4 |
2 | g.240869149C= | CA1339330909 | AGXT | c.166-21C= (n.166-21C=) n.186-21C= n.405+1084G= | |
2 | g.240869149C>T | CA2209025 | AGXT | c.166-21C>T (n.166-21C>T) n.186-21C>T n.405+1084G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869151dup | CA2607663590 | AGXT | c.166-19dup (n.166-19dup) n.186-19dup n.405+1084dup | gnomAD v3 gnomAD v4 |
2 | g.240869150C>A | CA2577302167 | AGXT | c.166-20C>A (n.166-20C>A) n.186-20C>A n.405+1083G>T | gnomAD v4 |
2 | g.240869151C>A | CA2754891909 | AGXT | c.166-19C>A (n.166-19C>A) n.186-19C>A n.405+1082G>T | |
2 | g.240869151C>T | CA2664005497 | AGXT | c.166-19C>T (n.166-19C>T) n.186-19C>T n.405+1082G>A | gnomAD v4 |
2 | g.240869152T>C | CA2577302169 | AGXT | c.166-18T>C (n.166-18T>C) n.186-18T>C n.405+1081A>G | |
2 | g.240869153A>G | CA2607663591 | AGXT | c.166-17A>G (n.166-17A>G) n.186-17A>G n.405+1080T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869153A>T | CA2740096544 | AGXT | c.166-17A>T (n.166-17A>T) n.186-17A>T n.405+1080T>A | ClinVar |
2 | g.240869154T>C | CA2209026 | AGXT | c.166-16T>C (n.166-16T>C) n.186-16T>C n.405+1079A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240869154T= | CA1339330910 | AGXT | c.166-16T= (n.166-16T=) n.186-16T= n.405+1079A= | |
2 | g.240869155A>G | CA2580068013 | AGXT | c.166-15A>G (n.166-15A>G) n.186-15A>G n.405+1078T>C | ClinVar |
2 | g.240869156C= | CA1339330911 | AGXT | c.166-14C= (n.166-14C=) n.186-14C= n.405+1077G= | |
2 | g.240869156C>T | CA275562 | AGXT | c.166-14C>T (n.166-14C>T) n.186-14C>T n.405+1077G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869157C>A | CA1339330912 | AGXT | c.166-13C>A (n.166-13C>A) n.186-13C>A n.405+1076G>T | dbSNP |
2 | g.240869157C= | CA1339330913 | AGXT | c.166-13C= (n.166-13C=) n.186-13C= n.405+1076G= | |
2 | g.240869157C>G | CA2664005510 | AGXT | c.166-13C>G (n.166-13C>G) n.186-13C>G n.405+1076G>C | gnomAD v4 |
2 | g.240869157C>T | CA2664005508 | AGXT | c.166-13C>T (n.166-13C>T) n.186-13C>T n.405+1076G>A | gnomAD v4 |
2 | g.240869159_240869162delinsTGCATGCAAGAT | CA2695197710 | AGXT | c.166-11_166-8delinsTGCATGCAAGAT (n.166-11_166-8delinsTGCATGCAAGAT) n.186-11_186-8delinsTGCATGCAAGAT n.405+1071_405+1074delinsATCTTGCATGCA | ClinVar |
2 | g.240869160C>A | CA2580068014 | AGXT | c.166-10C>A (n.166-10C>A) n.186-10C>A n.405+1073G>T | ClinVar |
2 | g.240869161C= | CA1339330914 | AGXT | c.166-9C= (n.166-9C=) n.186-9C= n.405+1072G= | |
2 | g.240869161C>T | CA2209027 | AGXT | c.166-9C>T (n.166-9C>T) n.186-9C>T n.405+1072G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869162G>A | CA2209028 | AGXT | c.166-8G>A (n.166-8G>A) n.186-8G>A n.405+1071C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869162G>C | CA1339330916 | AGXT | c.166-8G>C (n.166-8G>C) n.186-8G>C n.405+1071C>G | dbSNP |
2 | g.240869162G= | CA1339330915 | AGXT | c.166-8G= (n.166-8G=) n.186-8G= n.405+1071C= | |
2 | g.240869162G>T | CA540752890 | AGXT | c.166-8G>T (n.166-8G>T) n.186-8G>T n.405+1071C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869163C>T | CA2664005534 | AGXT | c.166-7C>T (n.166-7C>T) n.186-7C>T n.405+1070G>A | gnomAD v4 |
2 | g.240869165T>A | CA2664005535 | AGXT | c.166-5T>A (n.166-5T>A) n.186-5T>A n.405+1068A>T | gnomAD v4 |
2 | g.240869167C>A | CA2664005537 | AGXT | c.166-3C>A (n.166-3C>A) n.186-3C>A n.405+1066G>T | gnomAD v4 |
2 | g.240869167C= | CA1339330917 | AGXT | c.166-3C= (n.166-3C=) n.186-3C= n.405+1066G= | |
2 | g.240869167C>G | CA540752891 | AGXT | c.166-3C>G (n.166-3C>G) n.186-3C>G n.405+1066G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869167C>T | CA2664005539 | AGXT | c.166-3C>T (n.166-3C>T) n.186-3C>T n.405+1066G>A | gnomAD v4 |
2 | g.240869168A= | CA1339330918 | AGXT | c.166-2A= (n.166-2A=) n.186-2A= n.405+1065T= | |
2 | g.240869168A>C | CA351313338 | AGXT | c.166-2A>C (n.166-2A>C) n.186-2A>C n.405+1065T>G | |
2 | g.240869168A>G | CA351313339 | AGXT | c.166-2A>G (n.166-2A>G) n.186-2A>G n.405+1065T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869168A>T | CA351313340 | AGXT | c.166-2A>T (n.166-2A>T) n.186-2A>T n.405+1065T>A | |
2 | g.240869169G>A | CA275803 | AGXT | c.166-1G>A (n.166-1G>A) n.186-1G>A n.405+1064C>T | ClinVar dbSNP |
2 | g.240869169G>C | CA351313341 | AGXT | c.166-1G>C (n.166-1G>C) n.186-1G>C n.405+1064C>G | |
2 | g.240869169G= | CA1339330919 | AGXT | c.166-1G= (n.166-1G=) n.186-1G= n.405+1064C= | |
2 | g.240869169G>T | CA351313342 | AGXT | c.166-1G>T (n.166-1G>T) n.186-1G>T n.405+1064C>A | |
2 | g.240869169_240869176dup | CA2586971630 | AGXT | c.166-1_172dup n.186-1_192dup n.405+1057_405+1064dup | ClinVar gnomAD v4 |
2 | g.240869170A= | CA1339330920 | AGXT | c.166A= (p.Ile56=) n.186A= n.405+1063T= | |
2 | g.240869170A>C | CA351313343 | AGXT | c.166A>C (p.Ile56Leu) n.186A>C n.405+1063T>G | |
2 | g.240869170A>G | CA351313345 | AGXT | c.166A>G (p.Ile56Val) n.186A>G n.405+1063T>C | dbSNP |
2 | g.240869170A>T | CA351313344 | AGXT | c.166A>T (p.Ile56Phe) n.186A>T n.405+1063T>A | |
2 | g.240869171T>A | CA275638 | AGXT | c.167T>A (p.Ile56Asn) n.187T>A n.405+1062A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240869171T>C | CA351313346 | AGXT | c.167T>C (p.Ile56Thr) n.187T>C n.405+1062A>G | |
2 | g.240869171T>G | CA351313347 | AGXT | c.167T>G (p.Ile56Ser) n.187T>G n.405+1062A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869171T= | CA1339330921 | AGXT | c.167T= (p.Ile56=) n.187T= n.405+1062A= | |
2 | g.240869172C>A | CA432234699 | AGXT | c.168C>A (p.Ile56=) n.188C>A n.405+1061G>T | |
2 | g.240869172C>G | CA351313348 | AGXT | c.168C>G (p.Ile56Met) n.188C>G n.405+1061G>C | |
2 | g.240869172C>T | CA432234701 | AGXT | c.168C>T (p.Ile56=) n.188C>T n.405+1061G>A | |
2 | g.240869173A= | CA1339330922 | AGXT | c.169A= (p.Met57=) n.189A= n.405+1060T= | |
2 | g.240869173A>C | CA351313350 | AGXT | c.169A>C (p.Met57Leu) n.189A>C n.405+1060T>G | |
2 | g.240869173A>G | CA68173721 | AGXT | c.169A>G (p.Met57Val) n.189A>G n.405+1060T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240869173A>T | CA351313349 | AGXT | c.169A>T (p.Met57Leu) n.189A>T n.405+1060T>A | |
2 | g.240869174T>A | CA351313351 | AGXT | c.170T>A (p.Met57Lys) n.190T>A n.405+1059A>T | |
2 | g.240869174T>C | CA351313352 | AGXT | c.170T>C (p.Met57Thr) n.190T>C n.405+1059A>G | gnomAD v4 |
2 | g.240869174T>G | CA351313353 | AGXT | c.170T>G (p.Met57Arg) n.190T>G n.405+1059A>C | |
2 | g.240869175G>A | CA351313354 | AGXT | c.171G>A (p.Met57Ile) n.191G>A n.405+1058C>T | |
2 | g.240869175G>C | CA351313355 | AGXT | c.171G>C (p.Met57Ile) n.191G>C n.405+1058C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240869175G= | CA1339330923 | AGXT | c.171G= (p.Met57=) n.191G= n.405+1058C= | |
2 | g.240869175G>T | CA351313356 | AGXT | c.171G>T (p.Met57Ile) n.191G>T n.405+1058C>A | gnomAD v4 |
2 | g.240869176G>A | CA2209029 | AGXT | c.172G>A (p.Asp58Asn) n.192G>A n.405+1057C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869176G>C | CA351313357 | AGXT | c.172G>C (p.Asp58His) n.192G>C n.405+1057C>G | |
2 | g.240869176G= | CA1339330924 | AGXT | c.172G= (p.Asp58=) n.192G= n.405+1057C= | |
2 | g.240869176G>T | CA351313358 | AGXT | c.172G>T (p.Asp58Tyr) n.192G>T n.405+1057C>A | |
2 | g.240869177A= | CA1339330925 | AGXT | c.173A= (p.Asp58=) n.193A= n.405+1056T= | |
2 | g.240869177A>C | CA351313359 | AGXT | c.173A>C (p.Asp58Ala) n.193A>C n.405+1056T>G | |
2 | g.240869177A>G | CA351313360 | AGXT | c.173A>G (p.Asp58Gly) n.193A>G n.405+1056T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869177A>T | CA351313361 | AGXT | c.173A>T (p.Asp58Val) n.193A>T n.405+1056T>A | |
2 | g.240869178C>A | CA68173735 | AGXT | c.174C>A (p.Asp58Glu) n.194C>A n.405+1055G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869178C= | CA1339330926 | AGXT | c.174C= (p.Asp58=) n.194C= n.405+1055G= | |
2 | g.240869178C>G | CA351313362 | AGXT | c.174C>G (p.Asp58Glu) n.194C>G n.405+1055G>C | |
2 | g.240869178C>T | CA2209030 | AGXT | c.174C>T (p.Asp58=) n.194C>T n.405+1055G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869179G>A | CA275640 | AGXT | c.175G>A (p.Glu59Lys) n.195G>A n.405+1054C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.240869179G>C | CA351313363 | AGXT | c.175G>C (p.Glu59Gln) n.195G>C n.405+1054C>G | |
2 | g.240869179G= | CA1339330927 | AGXT | c.175G= (p.Glu59=) n.195G= n.405+1054C= | |
2 | g.240869179G>T | CA351313364 | AGXT | c.175G>T (p.Glu59Ter) n.195G>T n.405+1054C>A | ClinVar dbSNP |
2 | g.240869180A>C | CA351313365 | AGXT | c.176A>C (p.Glu59Ala) n.196A>C n.405+1053T>G | |
2 | g.240869180A>G | CA351313366 | AGXT | c.176A>G (p.Glu59Gly) n.196A>G n.405+1053T>C | |
2 | g.240869180A>T | CA351313367 | AGXT | c.176A>T (p.Glu59Val) n.196A>T n.405+1053T>A | |
2 | g.240869181G>A | CA432234715 | AGXT | c.177G>A (p.Glu59=) n.197G>A n.405+1052C>T | |
2 | g.240869181G>C | CA351313368 | AGXT | c.177G>C (p.Glu59Asp) n.197G>C n.405+1052C>G | |
2 | g.240869181G>T | CA351313369 | AGXT | c.177G>T (p.Glu59Asp) n.197G>T n.405+1052C>A | |
2 | g.240869182A>C | CA351313370 | AGXT | c.178A>C (p.Ile60Leu) n.198A>C n.405+1051T>G | |
2 | g.240869182A>G | CA351313371 | AGXT | c.178A>G (p.Ile60Val) n.198A>G n.405+1051T>C | |
2 | g.240869182A>T | CA351313372 | AGXT | c.178A>T (p.Ile60Phe) n.198A>T n.405+1051T>A | |
2 | g.240869183T>A | CA351313375 | AGXT | c.179T>A (p.Ile60Asn) n.199T>A n.405+1050A>T | |
2 | g.240869183T>C | CA351313374 | AGXT | c.179T>C (p.Ile60Thr) n.199T>C n.405+1050A>G | |
2 | g.240869183T>G | CA351313373 | AGXT | c.179T>G (p.Ile60Ser) n.199T>G n.405+1050A>C | gnomAD v4 |
2 | g.240869184C>A | CA432234722 | AGXT | c.180C>A (p.Ile60=) n.200C>A n.405+1049G>T | |
2 | g.240869184C= | CA1339330928 | AGXT | c.180C= (p.Ile60=) n.200C= n.405+1049G= | |
2 | g.240869184C>G | CA351313376 | AGXT | c.180C>G (p.Ile60Met) n.200C>G n.405+1049G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869184C>T | CA68173742 | AGXT | c.180C>T (p.Ile60=) n.200C>T n.405+1049G>A | dbSNP gnomAD v2 gnomAD v4 |