Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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_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_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.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.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.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.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.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.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.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.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.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.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 |