8 | g.118111661_118111751del | CA2688347506 | EXT1 | c.-703_-613del (n.-703_-613del)
| gnomAD v4 |
8 | g.118111689_118111715del | CA2688347537 | EXT1 | c.-661_-635del (n.-661_-635del)
| gnomAD v4 |
8 | g.118111695G>A | CA584473486 | EXT1 | c.-649C>T (n.-649C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118111695G= | CA1814090727 | EXT1 | c.-649C= (n.-649C=)
| |
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.118111696G= | CA1814090729 | EXT1 | c.-650C= (n.-650C=)
| |
8 | g.118111696G>T | CA2688347553 | EXT1 | c.-650C>A (n.-650C>A)
| gnomAD v4 |
8 | g.118111697A>G | CA2688347554 | EXT1 | c.-651T>C (n.-651T>C)
| 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 |
8 | g.118111708_118111735del | CA846256177 | EXT1 | c.-679_-652del (n.-679_-652del)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.118111699G>A | CA846256184 | EXT1 | c.-653C>T (n.-653C>T)
| dbSNP |
8 | g.118111699G= | CA1814090740 | EXT1 | c.-653C= (n.-653C=)
| |
8 | g.118111700C>A | CA184682738 | EXT1 | c.-654G>T (n.-654G>T)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.118111700C= | CA1814090741 | EXT1 | c.-654G= (n.-654G=)
| |
8 | g.118111700C>T | CA2688347555 | EXT1 | c.-654G>A (n.-654G>A)
| gnomAD v4 |
8 | g.118111704_118111705insCCGGCG | CA846256187 | EXT1 | c.-654_-653insGCGCCG (n.-654_-653insGCGCCG)
| dbSNP |
8 | g.118111700_118111722delinsCGGCGGCGGCGGCGGCGCTGGGT | CA1814090742 | EXT1 | c.-676_-654delinsACCCAGCGCCGCCGCCGCCGCCG (n.-676_-654delinsACCCAGCGCCGCCGCCGCCGCCG)
| |
8 | g.118111700_118111701insTGGA | CA2531253354 | EXT1 | c.-655_-654insTCCA (n.-655_-654insTCCA)
| |
8 | g.118111701G>A | CA2688347556 | EXT1 | c.-655C>T (n.-655C>T)
| gnomAD v4 |
8 | g.118111701G>C | CA184682743 | EXT1 | c.-655C>G (n.-655C>G)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.118111701G= | CA1814090747 | EXT1 | c.-655C= (n.-655C=)
| |
8 | g.118111701G>T | CA10630125 | EXT1 | c.-655C>A (n.-655C>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118111714_118111735del | CA184682741 | EXT1 | c.-676_-655del (n.-676_-655del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118111702G>A | CA2688347557 | EXT1 | c.-656C>T (n.-656C>T)
| gnomAD v4 |
8 | g.118111702G>T | CA2688347558 | EXT1 | c.-656C>A (n.-656C>A)
| gnomAD v4 |
8 | g.118111703C>A | CA2688347559 | EXT1 | c.-657G>T (n.-657G>T)
| gnomAD v4 |
8 | g.118111703C>T | CA2688347560 | EXT1 | c.-657G>A (n.-657G>A)
| gnomAD v4 |
8 | g.118111703_118111722delinsCGGCGGCGGCGGCGCTGGGT | CA1814090750 | EXT1 | c.-676_-657delinsACCCAGCGCCGCCGCCGCCG (n.-676_-657delinsACCCAGCGCCGCCGCCGCCG)
| |
8 | g.118111704G>A | CA184682749 | EXT1 | c.-658C>T (n.-658C>T)
| dbSNP |
8 | g.118111704G= | CA1814090755 | EXT1 | c.-658C= (n.-658C=)
| |
8 | g.118111718_118111736dup | CA846256198 | EXT1 | c.-676_-658dup (n.-676_-658dup)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.118111718_118111736del | CA184682747 | EXT1 | c.-676_-658del (n.-676_-658del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118111705G>A | CA2688347561 | EXT1 | c.-659C>T (n.-659C>T)
| gnomAD v4 |
8 | g.118111705G>T | CA2688347562 | EXT1 | c.-659C>A (n.-659C>A)
| gnomAD v4 |
8 | g.118111706C>T | CA2688347563 | EXT1 | c.-660G>A (n.-660G>A)
| gnomAD v4 |
8 | g.118111707G>A | CA2688347565 | EXT1 | c.-661C>T (n.-661C>T)
| gnomAD v4 |
8 | g.118111707G>T | CA2688347566 | EXT1 | c.-661C>A (n.-661C>A)
| gnomAD v4 |
8 | g.118111717_118111732del | CA2688347564 | EXT1 | c.-676_-661del (n.-676_-661del)
| dbSNP gnomAD v4 |
8 | g.118111708G>A | CA1118366949 | EXT1 | c.-662C>T (n.-662C>T)
| dbSNP gnomAD v3 gnomAD v4 |