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.240869073T= | CA1339330850 | AGXT | c.165+43T= (n.165+43T=) n.185+43T= n.405+1160A= | |
2 | g.240869073_240869074insCCCCACCCACAGA | CA1044064741 | AGXT | c.165+43_165+44insCCCCACCCACAGA (n.165+43_165+44insCCCCACCCACAGA) n.185+43_185+44insCCCCACCCACAGA n.405+1159_405+1160insTCTGTGGGTGGGG | dbSNP |
2 | g.240869074T>A | CA275558 | AGXT | c.165+44T>A (n.165+44T>A) n.185+44T>A n.405+1159A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869074T>C | CA2581836826 | AGXT | c.165+44T>C (n.165+44T>C) n.185+44T>C n.405+1159A>G | |
2 | g.240869074T>G | CA2581836827 | AGXT | c.165+44T>G (n.165+44T>G) n.185+44T>G n.405+1159A>C | |
2 | g.240869074T= | CA1339330851 | AGXT | c.165+44T= (n.165+44T=) n.185+44T= n.405+1159A= | |
2 | g.240869074_240869075insTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA | CA2209006 | AGXT | c.165+44_165+45insTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA (n.165+44_165+45insTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA) n.185+44_185+45insTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCTCCCCTCTTCCGTGATCTGTGGGTGGA | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869074_240869075insACCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA | CA2664005141 | AGXT | c.165+44_165+45insACCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA (n.165+44_165+45insACCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA) n.185+44_185+45insACCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGT | gnomAD v4 |
2 | g.240869075C= | CA1339330852 | AGXT | c.165+45C= (n.165+45C=) n.185+45C= n.405+1158G= | |
2 | g.240869075C>T | CA2209008 | AGXT | c.165+45C>T (n.165+45C>T) n.185+45C>T n.405+1158G>A | dbSNP ExAC |
2 | g.240869075_240869076insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTAC | CA1044064831 | AGXT | c.165+45_165+46insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTAC (n.165+45_165+46insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTAC) n.185+45_185+46insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTAC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCTCCCCTCTTCCGTG | dbSNP |
2 | g.240869076_240869077insTCACTCGGGGGGCCTGGGTCTCACCCCTGTACC | CA1339330853 | AGXT | c.165+46_165+47insTCACTCGGGGGGCCTGGGTCTCACCCCTGTACC (n.165+46_165+47insTCACTCGGGGGGCCTGGGTCTCACCCCTGTACC) n.185+46_185+47insTCACTCGGGGGGCCTGGGTCTCACCCCTGTACC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGG | dbSNP gnomAD v4 |
2 | g.240869078_240869079insACCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCA | CA2664005091 | AGXT | c.165+48_165+49insACCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCA (n.165+48_165+49insACCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCA) n.185+48_185+49insACCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCA n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGTTGGG | gnomAD v4 |
2 | g.240869079_240869080insTCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCAC | CA1044064792 | AGXT | c.165+49_165+50insTCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCAC (n.165+49_165+50insTCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCAC) n.185+49_185+50insTCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCAC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGAGTGGG | gnomAD v3 gnomAD v4 |
2 | g.240869080_240869081insAACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACC | CA2664005139 | AGXT | c.165+50_165+51insAACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACC (n.165+50_165+51insAACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACC) n.185+50_185+51insAACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTTGGTGGG | gnomAD v4 |
2 | g.240869081_240869082insGCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC | CA2740381935 | AGXT | c.165+51_165+52insGCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC (n.165+51_165+52insGCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC) n.185+51_185+52insGCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGCGGGTGGG | |
2 | g.240869081_240869082insCCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC | CA2514690812 | AGXT | c.165+51_165+52insCCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC (n.165+51_165+52insCCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC) n.185+51_185+52insCCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGGGGGTGGG | |
2 | g.240869082_240869083insTAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCA | CA2664005076 | AGXT | c.165+52_165+53insTAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCA (n.165+52_165+53insTAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCA) n.185+52_185+53insTAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCA n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTATGGGTGGG | gnomAD v4 |
2 | g.240869083_240869084insCGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCAATCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCAC | CA2664005077 | AGXT | c.165+53_165+54insCGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCAATCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCAC (n.165+53_165+54insCGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCAATCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCAC) n.185+53_185+54insCGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCAATCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCAC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGATTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCGGTGGGTGGG | gnomAD v4 |
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 |