8 | g.118111661_118111751del | CA2688347506 | EXT1 | c.-703_-613del (n.-703_-613del)
| gnomAD v4 |
8 | g.118111676_118111692del | CA2688347525 | EXT1 | c.-641_-625del (n.-641_-625del)
| gnomAD v4 |
8 | g.118111689_118111715del | CA2688347537 | EXT1 | c.-661_-635del (n.-661_-635del)
| gnomAD v4 |
8 | g.118111688C>T | CA10624659 | EXT1 | c.-642G>A (n.-642G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118111690C>A | CA184682727 | EXT1 | c.-644G>T (n.-644G>T)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.118111690C>G | CA584473485 | EXT1 | c.-644G>C (n.-644G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118111691G>A | CA184682729 | EXT1 | c.-645C>T (n.-645C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118111695G>A | CA584473486 | EXT1 | c.-649C>T (n.-649C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118111697_118111702dup | CA846256146 | EXT1 | c.-654_-649dup (n.-654_-649dup)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.118111696G>A | CA846256147 | EXT1 | c.-650C>T (n.-650C>T)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.118111698_118111699insAAG | CA2536894934 | EXT1 | c.-651_-650insTCT (n.-651_-650insTCT)
| |
8 | g.118111697_118111709delinsAGGCGGCGGCGGC | CA1814090730 | EXT1 | c.-663_-651delinsGCCGCCGCCGCCT (n.-663_-651delinsGCCGCCGCCGCCT)
| |
8 | g.118111697_118111725delinsAGGCGGCGGCGGCGGCGGCGCTGGGTGGC | CA1814090731 | EXT1 | c.-679_-651delinsGCCACCCAGCGCCGCCGCCGCCGCCGCCT (n.-679_-651delinsGCCACCCAGCGCCGCCGCCGCCGCCGCCT)
| |
8 | g.118111714_118111716dup | CA184682732 | EXT1 | c.-654_-652dup (n.-654_-652dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118111711_118111716dup | CA584473488 | EXT1 | c.-657_-652dup (n.-657_-652dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118111708_118111716dup | CA584473487 | EXT1 | c.-660_-652dup (n.-660_-652dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118111714_118111716del | CA584473489 | EXT1 | c.-654_-652del (n.-654_-652del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118111711_118111716del | CA10630117 | EXT1 | c.-657_-652del (n.-657_-652del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118111708_118111716del | CA1118366933 | EXT1 | c.-660_-652del (n.-660_-652del)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.118111705_118111716del | CA1814090737 | EXT1 | c.-663_-652del (n.-663_-652del)
| dbSNP |
8 | g.118111711_118111735del | CA184682735 | EXT1 | c.-676_-652del (n.-676_-652del)
| dbSNP gnomAD v4 |