Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240868866_240871449del | CA2741808836 | AGXT | c.1_524del n.21_544del | ClinVar |
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.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_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_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 |