Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240594824_240594856delinsAGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT | CA1339193097 | CAPN10 | c.997+115_997+147delinsAGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT (n.997+115_997+147delinsAGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT) c.*161+115_*161+147delinsAGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT (n.*161+115_*161+147delinsAGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT) c.273+5350_273+5382delinsAGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT (n.273+5350_273+5382delinsAGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT) c.142-3064_142-3032delinsAGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT (n.142-3064_142-3032delinsAGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT) n.469+115_469+147delinsAGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT n.2576+115_2576+147delinsAGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT | |
2 | g.240594825G>T | CA2663979656 | CAPN10 | c.997+116G>T (n.997+116G>T) c.*161+116G>T (n.*161+116G>T) c.273+5351G>T (n.273+5351G>T) c.142-3063G>T (n.142-3063G>T) n.469+116G>T n.2576+116G>T | gnomAD v4 |
2 | g.240594825_240594826insGGTG | CA2663979668 | CAPN10 | c.997+116_997+117insGGTG (n.997+116_997+117insGGTG) c.*161+116_*161+117insGGTG (n.*161+116_*161+117insGGTG) c.273+5351_273+5352insGGTG (n.273+5351_273+5352insGGTG) c.142-3063_142-3062insGGTG (n.142-3063_142-3062insGGTG) n.469+116_469+117insGGTG n.2576+116_2576+117insGGTG | gnomAD v4 |
2 | g.240594825_240594826insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG | CA2607661241 | CAPN10 | c.997+116_997+117insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG (n.997+116_997+117insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG) c.*161+116_*161+117insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG (n.*161+116_*161+117insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG) c.273+5351_273+5352insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG (n.273+5351_273+5352insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG) c.142-3063_142-3062insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG (n.142-3063_142-3062insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG) n.469+116_469+117insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG n.2576+116_2576+117insCTGATTCTGTCCCAGGAGCCGGGAGGAGGGGG | gnomAD v3 gnomAD v4 |
2 | g.240594825_240594826insGTGATTCTGTCCCAGGAGCCGGGAGGAGGGTG | CA1044051857 | CAPN10 | c.997+116_997+117insGTGATTCTGTCCCAGGAGCCGGGAGGAGGGTG (n.997+116_997+117insGTGATTCTGTCCCAGGAGCCGGGAGGAGGGTG) c.*161+116_*161+117insGTGATTCTGTCCCAGGAGCCGGGAGGAGGGTG (n.*161+116_*161+117insGTGATTCTGTCCCAGGAGCCGGGAGGAGGGTG) c.273+5351_273+5352insGTGATTCTGTCCCAGGAGCCGGGAGGAGGGTG (n.273+5351_273+5352insGTGATTCTGTCCCAGGAGCCGGGAGGAGGGTG) c.142-3063_142-3062insGTGATTCTGTCCCAGGAGCCGGGAGGAGGGTG (n.142-3063_142-3062insGTGATTCTGTCCCAGGAGCCGGGAGGAGGGTG) n.469+116_469+117insGTGATTCTGTCCCAGGAGCCGGGAGGAGGGTG n.2576+116_2576+117insGTGATTCTGTCCCAGGAGCCGGGAGGAGGGTG | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240594825_240594826insCTGCTTCTGTCCCAGGAGCCGGGAGGAGGGTG | CA2663979671 | CAPN10 | c.997+116_997+117insCTGCTTCTGTCCCAGGAGCCGGGAGGAGGGTG (n.997+116_997+117insCTGCTTCTGTCCCAGGAGCCGGGAGGAGGGTG) c.*161+116_*161+117insCTGCTTCTGTCCCAGGAGCCGGGAGGAGGGTG (n.*161+116_*161+117insCTGCTTCTGTCCCAGGAGCCGGGAGGAGGGTG) c.273+5351_273+5352insCTGCTTCTGTCCCAGGAGCCGGGAGGAGGGTG (n.273+5351_273+5352insCTGCTTCTGTCCCAGGAGCCGGGAGGAGGGTG) c.142-3063_142-3062insCTGCTTCTGTCCCAGGAGCCGGGAGGAGGGTG (n.142-3063_142-3062insCTGCTTCTGTCCCAGGAGCCGGGAGGAGGGTG) n.469+116_469+117insCTGCTTCTGTCCCAGGAGCCGGGAGGAGGGTG n.2576+116_2576+117insCTGCTTCTGTCCCAGGAGCCGGGAGGAGGGTG | gnomAD v4 |
2 | g.240594825_240594826insCTGATTCTGTCCCAGGAGCCGGGAGGCGGGTG | CA2663979675 | CAPN10 | c.997+116_997+117insCTGATTCTGTCCCAGGAGCCGGGAGGCGGGTG (n.997+116_997+117insCTGATTCTGTCCCAGGAGCCGGGAGGCGGGTG) c.*161+116_*161+117insCTGATTCTGTCCCAGGAGCCGGGAGGCGGGTG (n.*161+116_*161+117insCTGATTCTGTCCCAGGAGCCGGGAGGCGGGTG) c.273+5351_273+5352insCTGATTCTGTCCCAGGAGCCGGGAGGCGGGTG (n.273+5351_273+5352insCTGATTCTGTCCCAGGAGCCGGGAGGCGGGTG) c.142-3063_142-3062insCTGATTCTGTCCCAGGAGCCGGGAGGCGGGTG (n.142-3063_142-3062insCTGATTCTGTCCCAGGAGCCGGGAGGCGGGTG) n.469+116_469+117insCTGATTCTGTCCCAGGAGCCGGGAGGCGGGTG n.2576+116_2576+117insCTGATTCTGTCCCAGGAGCCGGGAGGCGGGTG | gnomAD v4 |
2 | g.240594825_240594826insGATGATTCTGTCCCAGGAGCCGCGGAGGAGAGGGTG | CA916813200 | CAPN10 | c.997+116_997+117insGATGATTCTGTCCCAGGAGCCGCGGAGGAGAGGGTG (n.997+116_997+117insGATGATTCTGTCCCAGGAGCCGCGGAGGAGAGGGTG) c.*161+116_*161+117insGATGATTCTGTCCCAGGAGCCGCGGAGGAGAGGGTG (n.*161+116_*161+117insGATGATTCTGTCCCAGGAGCCGCGGAGGAGAGGGTG) c.273+5351_273+5352insGATGATTCTGTCCCAGGAGCCGCGGAGGAGAGGGTG (n.273+5351_273+5352insGATGATTCTGTCCCAGGAGCCGCGGAGGAGAGGGTG) c.142-3063_142-3062insGATGATTCTGTCCCAGGAGCCGCGGAGGAGAGGGTG (n.142-3063_142-3062insGATGATTCTGTCCCAGGAGCCGCGGAGGAGAGGGTG) n.469+116_469+117insGATGATTCTGTCCCAGGAGCCGCGGAGGAGAGGGTG n.2576+116_2576+117insGATGATTCTGTCCCAGGAGCCGCGGAGGAGAGGGTG | dbSNP |
2 | g.240594826_240594827insCGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA | CA2663979842 | CAPN10 | c.997+117_997+118insCGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA (n.997+117_997+118insCGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA) c.*161+117_*161+118insCGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA (n.*161+117_*161+118insCGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA) c.273+5352_273+5353insCGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA (n.273+5352_273+5353insCGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA) c.142-3062_142-3061insCGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA (n.142-3062_142-3061insCGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA) n.469+117_469+118insCGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA n.2576+117_2576+118insCGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA | gnomAD v4 |
2 | g.240594826_240594827insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA | CA1044051884 | CAPN10 | c.997+117_997+118insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA (n.997+117_997+118insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA) c.*161+117_*161+118insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA (n.*161+117_*161+118insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA) c.273+5352_273+5353insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA (n.273+5352_273+5353insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA) c.142-3062_142-3061insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA (n.142-3062_142-3061insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA) n.469+117_469+118insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA n.2576+117_2576+118insGGATTCTGTCCCAGGAGCCGGGAGGAGGGTGA | gnomAD v3 gnomAD v4 |
2 | g.240594827_240594828insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT | CA2663979679 | CAPN10 | c.997+118_997+119insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT (n.997+118_997+119insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT) c.*161+118_*161+119insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT (n.*161+118_*161+119insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT) c.273+5353_273+5354insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT (n.273+5353_273+5354insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT) c.142-3061_142-3060insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT (n.142-3061_142-3060insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT) n.469+118_469+119insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT n.2576+118_2576+119insTCTGTCCCAGGAGCCGGGAGGAGGGTGAT | gnomAD v4 |
2 | g.240594827_240594828insTATTCTGTCCCAGGAGCCGGGAGGAGGGTGAT | CA2607661240 | CAPN10 | c.997+118_997+119insTATTCTGTCCCAGGAGCCGGGAGGAGGGTGAT (n.997+118_997+119insTATTCTGTCCCAGGAGCCGGGAGGAGGGTGAT) c.*161+118_*161+119insTATTCTGTCCCAGGAGCCGGGAGGAGGGTGAT (n.*161+118_*161+119insTATTCTGTCCCAGGAGCCGGGAGGAGGGTGAT) c.273+5353_273+5354insTATTCTGTCCCAGGAGCCGGGAGGAGGGTGAT (n.273+5353_273+5354insTATTCTGTCCCAGGAGCCGGGAGGAGGGTGAT) c.142-3061_142-3060insTATTCTGTCCCAGGAGCCGGGAGGAGGGTGAT (n.142-3061_142-3060insTATTCTGTCCCAGGAGCCGGGAGGAGGGTGAT) n.469+118_469+119insTATTCTGTCCCAGGAGCCGGGAGGAGGGTGAT n.2576+118_2576+119insTATTCTGTCCCAGGAGCCGGGAGGAGGGTGAT | gnomAD v3 gnomAD v4 |
2 | g.240594827_240594828insTATTCTGTCCCAGGAGCCGGGAGAAGGGTGAT | CA2519856818 | CAPN10 | c.997+118_997+119insTATTCTGTCCCAGGAGCCGGGAGAAGGGTGAT (n.997+118_997+119insTATTCTGTCCCAGGAGCCGGGAGAAGGGTGAT) c.*161+118_*161+119insTATTCTGTCCCAGGAGCCGGGAGAAGGGTGAT (n.*161+118_*161+119insTATTCTGTCCCAGGAGCCGGGAGAAGGGTGAT) c.273+5353_273+5354insTATTCTGTCCCAGGAGCCGGGAGAAGGGTGAT (n.273+5353_273+5354insTATTCTGTCCCAGGAGCCGGGAGAAGGGTGAT) c.142-3061_142-3060insTATTCTGTCCCAGGAGCCGGGAGAAGGGTGAT (n.142-3061_142-3060insTATTCTGTCCCAGGAGCCGGGAGAAGGGTGAT) n.469+118_469+119insTATTCTGTCCCAGGAGCCGGGAGAAGGGTGAT n.2576+118_2576+119insTATTCTGTCCCAGGAGCCGGGAGAAGGGTGAT | |
2 | g.240594828_240594829insTTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG | CA2663979686 | CAPN10 | c.997+119_997+120insTTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG (n.997+119_997+120insTTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG) c.*161+119_*161+120insTTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG (n.*161+119_*161+120insTTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG) c.273+5354_273+5355insTTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG (n.273+5354_273+5355insTTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG) c.142-3060_142-3059insTTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG (n.142-3060_142-3059insTTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG) n.469+119_469+120insTTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG n.2576+119_2576+120insTTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG | gnomAD v4 |
2 | g.240594828_240594829insGTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG | CA2663979692 | CAPN10 | c.997+119_997+120insGTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG (n.997+119_997+120insGTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG) c.*161+119_*161+120insGTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG (n.*161+119_*161+120insGTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG) c.273+5354_273+5355insGTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG (n.273+5354_273+5355insGTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG) c.142-3060_142-3059insGTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG (n.142-3060_142-3059insGTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG) n.469+119_469+120insGTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG n.2576+119_2576+120insGTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG | gnomAD v4 |
2 | g.240594828_240594829insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG | CA1044051852 | CAPN10 | c.997+119_997+120insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG (n.997+119_997+120insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG) c.*161+119_*161+120insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG (n.*161+119_*161+120insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG) c.273+5354_273+5355insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG (n.273+5354_273+5355insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG) c.142-3060_142-3059insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG (n.142-3060_142-3059insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG) n.469+119_469+120insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG n.2576+119_2576+120insCTTCTGTCCCAGGAGCCGGGAGGAGGGTGATG | |
2 | g.240594829_240594830insCTCTGTCCCAGGAGCCGGGAGGAGGGTGATGA | CA2663979828 | CAPN10 | c.997+120_997+121insCTCTGTCCCAGGAGCCGGGAGGAGGGTGATGA (n.997+120_997+121insCTCTGTCCCAGGAGCCGGGAGGAGGGTGATGA) c.*161+120_*161+121insCTCTGTCCCAGGAGCCGGGAGGAGGGTGATGA (n.*161+120_*161+121insCTCTGTCCCAGGAGCCGGGAGGAGGGTGATGA) c.273+5355_273+5356insCTCTGTCCCAGGAGCCGGGAGGAGGGTGATGA (n.273+5355_273+5356insCTCTGTCCCAGGAGCCGGGAGGAGGGTGATGA) c.142-3059_142-3058insCTCTGTCCCAGGAGCCGGGAGGAGGGTGATGA (n.142-3059_142-3058insCTCTGTCCCAGGAGCCGGGAGGAGGGTGATGA) n.469+120_469+121insCTCTGTCCCAGGAGCCGGGAGGAGGGTGATGA n.2576+120_2576+121insCTCTGTCCCAGGAGCCGGGAGGAGGGTGATGA | gnomAD v4 |
2 | g.240594829_240594830insGTCTGTCCCAGGAGCCGGGAGGAGGGTGATGA | CA1044051887 | CAPN10 | c.997+120_997+121insGTCTGTCCCAGGAGCCGGGAGGAGGGTGATGA (n.997+120_997+121insGTCTGTCCCAGGAGCCGGGAGGAGGGTGATGA) c.*161+120_*161+121insGTCTGTCCCAGGAGCCGGGAGGAGGGTGATGA (n.*161+120_*161+121insGTCTGTCCCAGGAGCCGGGAGGAGGGTGATGA) c.273+5355_273+5356insGTCTGTCCCAGGAGCCGGGAGGAGGGTGATGA (n.273+5355_273+5356insGTCTGTCCCAGGAGCCGGGAGGAGGGTGATGA) c.142-3059_142-3058insGTCTGTCCCAGGAGCCGGGAGGAGGGTGATGA (n.142-3059_142-3058insGTCTGTCCCAGGAGCCGGGAGGAGGGTGATGA) n.469+120_469+121insGTCTGTCCCAGGAGCCGGGAGGAGGGTGATGA n.2576+120_2576+121insGTCTGTCCCAGGAGCCGGGAGGAGGGTGATGA | gnomAD v3 gnomAD v4 |
2 | g.240594829_240594830insGTCTGGCCCAGGAGCCGGGAGGAGGGTGATGA | CA2663979822 | CAPN10 | c.997+120_997+121insGTCTGGCCCAGGAGCCGGGAGGAGGGTGATGA (n.997+120_997+121insGTCTGGCCCAGGAGCCGGGAGGAGGGTGATGA) c.*161+120_*161+121insGTCTGGCCCAGGAGCCGGGAGGAGGGTGATGA (n.*161+120_*161+121insGTCTGGCCCAGGAGCCGGGAGGAGGGTGATGA) c.273+5355_273+5356insGTCTGGCCCAGGAGCCGGGAGGAGGGTGATGA (n.273+5355_273+5356insGTCTGGCCCAGGAGCCGGGAGGAGGGTGATGA) c.142-3059_142-3058insGTCTGGCCCAGGAGCCGGGAGGAGGGTGATGA (n.142-3059_142-3058insGTCTGGCCCAGGAGCCGGGAGGAGGGTGATGA) n.469+120_469+121insGTCTGGCCCAGGAGCCGGGAGGAGGGTGATGA n.2576+120_2576+121insGTCTGGCCCAGGAGCCGGGAGGAGGGTGATGA | gnomAD v4 |
2 | g.240594829_240594830insATCTGTCCCAGGAGCCGGGAGGAGGGTGATGA | CA2663979835 | CAPN10 | c.997+120_997+121insATCTGTCCCAGGAGCCGGGAGGAGGGTGATGA (n.997+120_997+121insATCTGTCCCAGGAGCCGGGAGGAGGGTGATGA) c.*161+120_*161+121insATCTGTCCCAGGAGCCGGGAGGAGGGTGATGA (n.*161+120_*161+121insATCTGTCCCAGGAGCCGGGAGGAGGGTGATGA) c.273+5355_273+5356insATCTGTCCCAGGAGCCGGGAGGAGGGTGATGA (n.273+5355_273+5356insATCTGTCCCAGGAGCCGGGAGGAGGGTGATGA) c.142-3059_142-3058insATCTGTCCCAGGAGCCGGGAGGAGGGTGATGA (n.142-3059_142-3058insATCTGTCCCAGGAGCCGGGAGGAGGGTGATGA) n.469+120_469+121insATCTGTCCCAGGAGCCGGGAGGAGGGTGATGA n.2576+120_2576+121insATCTGTCCCAGGAGCCGGGAGGAGGGTGATGA | gnomAD v4 |
2 | g.240594830_240594831insGCTGTCCCAGGAGCCGGGAGGCGGGTGATGAT | CA2663979797 | CAPN10 | c.997+121_997+122insGCTGTCCCAGGAGCCGGGAGGCGGGTGATGAT (n.997+121_997+122insGCTGTCCCAGGAGCCGGGAGGCGGGTGATGAT) c.*161+121_*161+122insGCTGTCCCAGGAGCCGGGAGGCGGGTGATGAT (n.*161+121_*161+122insGCTGTCCCAGGAGCCGGGAGGCGGGTGATGAT) c.273+5356_273+5357insGCTGTCCCAGGAGCCGGGAGGCGGGTGATGAT (n.273+5356_273+5357insGCTGTCCCAGGAGCCGGGAGGCGGGTGATGAT) c.142-3058_142-3057insGCTGTCCCAGGAGCCGGGAGGCGGGTGATGAT (n.142-3058_142-3057insGCTGTCCCAGGAGCCGGGAGGCGGGTGATGAT) n.469+121_469+122insGCTGTCCCAGGAGCCGGGAGGCGGGTGATGAT n.2576+121_2576+122insGCTGTCCCAGGAGCCGGGAGGCGGGTGATGAT | gnomAD v4 |
2 | g.240594830_240594831insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT | CA1044051890 | CAPN10 | c.997+121_997+122insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT (n.997+121_997+122insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT) c.*161+121_*161+122insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT (n.*161+121_*161+122insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT) c.273+5356_273+5357insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT (n.273+5356_273+5357insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT) c.142-3058_142-3057insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT (n.142-3058_142-3057insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT) n.469+121_469+122insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT n.2576+121_2576+122insGCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT | gnomAD v3 gnomAD v4 |
2 | g.240594830_240594831insACTGTCCCAGGAGCCGGGAGGAGGGTGATGAT | CA2663979815 | CAPN10 | c.997+121_997+122insACTGTCCCAGGAGCCGGGAGGAGGGTGATGAT (n.997+121_997+122insACTGTCCCAGGAGCCGGGAGGAGGGTGATGAT) c.*161+121_*161+122insACTGTCCCAGGAGCCGGGAGGAGGGTGATGAT (n.*161+121_*161+122insACTGTCCCAGGAGCCGGGAGGAGGGTGATGAT) c.273+5356_273+5357insACTGTCCCAGGAGCCGGGAGGAGGGTGATGAT (n.273+5356_273+5357insACTGTCCCAGGAGCCGGGAGGAGGGTGATGAT) c.142-3058_142-3057insACTGTCCCAGGAGCCGGGAGGAGGGTGATGAT (n.142-3058_142-3057insACTGTCCCAGGAGCCGGGAGGAGGGTGATGAT) n.469+121_469+122insACTGTCCCAGGAGCCGGGAGGAGGGTGATGAT n.2576+121_2576+122insACTGTCCCAGGAGCCGGGAGGAGGGTGATGAT | gnomAD v4 |
2 | g.240594830_240594831insCCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT | CA2663979810 | CAPN10 | c.997+121_997+122insCCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT (n.997+121_997+122insCCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT) c.*161+121_*161+122insCCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT (n.*161+121_*161+122insCCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT) c.273+5356_273+5357insCCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT (n.273+5356_273+5357insCCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT) c.142-3058_142-3057insCCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT (n.142-3058_142-3057insCCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT) n.469+121_469+122insCCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT n.2576+121_2576+122insCCTGTCCCAGGAGCCGGGAGGAGGGTGATGAT | gnomAD v4 |
2 | g.240594831_240594832insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT | CA1044051891 | CAPN10 | c.997+122_997+123insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT (n.997+122_997+123insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT) c.*161+122_*161+123insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT (n.*161+122_*161+123insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT) c.273+5357_273+5358insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT (n.273+5357_273+5358insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT) c.142-3057_142-3056insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT (n.142-3057_142-3056insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT) n.469+122_469+123insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT n.2576+122_2576+123insATGTCCCAGGAGCCGGGAGGAGGGTGATGATT | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240594831_240594832insTTGTCCCAGGAGCCGGGAGGAGGGTGATGATT | CA2663979652 | CAPN10 | c.997+122_997+123insTTGTCCCAGGAGCCGGGAGGAGGGTGATGATT (n.997+122_997+123insTTGTCCCAGGAGCCGGGAGGAGGGTGATGATT) c.*161+122_*161+123insTTGTCCCAGGAGCCGGGAGGAGGGTGATGATT (n.*161+122_*161+123insTTGTCCCAGGAGCCGGGAGGAGGGTGATGATT) c.273+5357_273+5358insTTGTCCCAGGAGCCGGGAGGAGGGTGATGATT (n.273+5357_273+5358insTTGTCCCAGGAGCCGGGAGGAGGGTGATGATT) c.142-3057_142-3056insTTGTCCCAGGAGCCGGGAGGAGGGTGATGATT (n.142-3057_142-3056insTTGTCCCAGGAGCCGGGAGGAGGGTGATGATT) n.469+122_469+123insTTGTCCCAGGAGCCGGGAGGAGGGTGATGATT n.2576+122_2576+123insTTGTCCCAGGAGCCGGGAGGAGGGTGATGATT | gnomAD v4 |
2 | g.240594831_240594832insATGTCCCAGGAGACGGGAGGAGGGTGATGATT | CA2663979795 | CAPN10 | c.997+122_997+123insATGTCCCAGGAGACGGGAGGAGGGTGATGATT (n.997+122_997+123insATGTCCCAGGAGACGGGAGGAGGGTGATGATT) c.*161+122_*161+123insATGTCCCAGGAGACGGGAGGAGGGTGATGATT (n.*161+122_*161+123insATGTCCCAGGAGACGGGAGGAGGGTGATGATT) c.273+5357_273+5358insATGTCCCAGGAGACGGGAGGAGGGTGATGATT (n.273+5357_273+5358insATGTCCCAGGAGACGGGAGGAGGGTGATGATT) c.142-3057_142-3056insATGTCCCAGGAGACGGGAGGAGGGTGATGATT (n.142-3057_142-3056insATGTCCCAGGAGACGGGAGGAGGGTGATGATT) n.469+122_469+123insATGTCCCAGGAGACGGGAGGAGGGTGATGATT n.2576+122_2576+123insATGTCCCAGGAGACGGGAGGAGGGTGATGATT | gnomAD v4 |
2 | g.240594832_240594833insGGTCCCAGGAGCCGGGAGGAGGGTGATGATTC | CA1044051892 | CAPN10 | c.997+123_997+124insGGTCCCAGGAGCCGGGAGGAGGGTGATGATTC (n.997+123_997+124insGGTCCCAGGAGCCGGGAGGAGGGTGATGATTC) c.*161+123_*161+124insGGTCCCAGGAGCCGGGAGGAGGGTGATGATTC (n.*161+123_*161+124insGGTCCCAGGAGCCGGGAGGAGGGTGATGATTC) c.273+5358_273+5359insGGTCCCAGGAGCCGGGAGGAGGGTGATGATTC (n.273+5358_273+5359insGGTCCCAGGAGCCGGGAGGAGGGTGATGATTC) c.142-3056_142-3055insGGTCCCAGGAGCCGGGAGGAGGGTGATGATTC (n.142-3056_142-3055insGGTCCCAGGAGCCGGGAGGAGGGTGATGATTC) n.469+123_469+124insGGTCCCAGGAGCCGGGAGGAGGGTGATGATTC n.2576+123_2576+124insGGTCCCAGGAGCCGGGAGGAGGGTGATGATTC | gnomAD v3 gnomAD v4 |
2 | g.240594832_240594833insAGTCCCAGGAGCCGGGAGGAGGGTGATGATTC | CA2663979724 | CAPN10 | c.997+123_997+124insAGTCCCAGGAGCCGGGAGGAGGGTGATGATTC (n.997+123_997+124insAGTCCCAGGAGCCGGGAGGAGGGTGATGATTC) c.*161+123_*161+124insAGTCCCAGGAGCCGGGAGGAGGGTGATGATTC (n.*161+123_*161+124insAGTCCCAGGAGCCGGGAGGAGGGTGATGATTC) c.273+5358_273+5359insAGTCCCAGGAGCCGGGAGGAGGGTGATGATTC (n.273+5358_273+5359insAGTCCCAGGAGCCGGGAGGAGGGTGATGATTC) c.142-3056_142-3055insAGTCCCAGGAGCCGGGAGGAGGGTGATGATTC (n.142-3056_142-3055insAGTCCCAGGAGCCGGGAGGAGGGTGATGATTC) n.469+123_469+124insAGTCCCAGGAGCCGGGAGGAGGGTGATGATTC n.2576+123_2576+124insAGTCCCAGGAGCCGGGAGGAGGGTGATGATTC | gnomAD v4 |
2 | g.240594833_240594834insATCCCAGGAGCCGGGAGGAGGGTGATGATTCT | CA2663979786 | CAPN10 | c.997+124_997+125insATCCCAGGAGCCGGGAGGAGGGTGATGATTCT (n.997+124_997+125insATCCCAGGAGCCGGGAGGAGGGTGATGATTCT) c.*161+124_*161+125insATCCCAGGAGCCGGGAGGAGGGTGATGATTCT (n.*161+124_*161+125insATCCCAGGAGCCGGGAGGAGGGTGATGATTCT) c.273+5359_273+5360insATCCCAGGAGCCGGGAGGAGGGTGATGATTCT (n.273+5359_273+5360insATCCCAGGAGCCGGGAGGAGGGTGATGATTCT) c.142-3055_142-3054insATCCCAGGAGCCGGGAGGAGGGTGATGATTCT (n.142-3055_142-3054insATCCCAGGAGCCGGGAGGAGGGTGATGATTCT) n.469+124_469+125insATCCCAGGAGCCGGGAGGAGGGTGATGATTCT n.2576+124_2576+125insATCCCAGGAGCCGGGAGGAGGGTGATGATTCT | gnomAD v4 |
2 | g.240594833_240594834insCTCCCAGGAGCCGGGAGGAGGGTGATGATTCT | CA2663979782 | CAPN10 | c.997+124_997+125insCTCCCAGGAGCCGGGAGGAGGGTGATGATTCT (n.997+124_997+125insCTCCCAGGAGCCGGGAGGAGGGTGATGATTCT) c.*161+124_*161+125insCTCCCAGGAGCCGGGAGGAGGGTGATGATTCT (n.*161+124_*161+125insCTCCCAGGAGCCGGGAGGAGGGTGATGATTCT) c.273+5359_273+5360insCTCCCAGGAGCCGGGAGGAGGGTGATGATTCT (n.273+5359_273+5360insCTCCCAGGAGCCGGGAGGAGGGTGATGATTCT) c.142-3055_142-3054insCTCCCAGGAGCCGGGAGGAGGGTGATGATTCT (n.142-3055_142-3054insCTCCCAGGAGCCGGGAGGAGGGTGATGATTCT) n.469+124_469+125insCTCCCAGGAGCCGGGAGGAGGGTGATGATTCT n.2576+124_2576+125insCTCCCAGGAGCCGGGAGGAGGGTGATGATTCT | gnomAD v4 |
2 | g.240594833_240594834insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT | CA1044051836 | CAPN10 | c.997+124_997+125insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT (n.997+124_997+125insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT) c.*161+124_*161+125insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT (n.*161+124_*161+125insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT) c.273+5359_273+5360insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT (n.273+5359_273+5360insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT) c.142-3055_142-3054insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT (n.142-3055_142-3054insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT) n.469+124_469+125insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT n.2576+124_2576+125insTTCCCAGGAGCCGGGAGGAGGGTGATGATTCT | gnomAD v3 gnomAD v4 |
2 | g.240594834_240594835insACCAAGGAGCAGGGAGGAGGGTGATGATTCTG | CA2663979778 | CAPN10 | c.997+125_997+126insACCAAGGAGCAGGGAGGAGGGTGATGATTCTG (n.997+125_997+126insACCAAGGAGCAGGGAGGAGGGTGATGATTCTG) c.*161+125_*161+126insACCAAGGAGCAGGGAGGAGGGTGATGATTCTG (n.*161+125_*161+126insACCAAGGAGCAGGGAGGAGGGTGATGATTCTG) c.273+5360_273+5361insACCAAGGAGCAGGGAGGAGGGTGATGATTCTG (n.273+5360_273+5361insACCAAGGAGCAGGGAGGAGGGTGATGATTCTG) c.142-3054_142-3053insACCAAGGAGCAGGGAGGAGGGTGATGATTCTG (n.142-3054_142-3053insACCAAGGAGCAGGGAGGAGGGTGATGATTCTG) n.469+125_469+126insACCAAGGAGCAGGGAGGAGGGTGATGATTCTG n.2576+125_2576+126insACCAAGGAGCAGGGAGGAGGGTGATGATTCTG | gnomAD v4 |
2 | g.240594834_240594835insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG | CA2663979771 | CAPN10 | c.997+125_997+126insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG (n.997+125_997+126insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG) c.*161+125_*161+126insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG (n.*161+125_*161+126insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG) c.273+5360_273+5361insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG (n.273+5360_273+5361insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG) c.142-3054_142-3053insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG (n.142-3054_142-3053insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG) n.469+125_469+126insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG n.2576+125_2576+126insGCCCAGGAGCCGGGAGGAGGGTGATGATTCTG | gnomAD v4 |
2 | g.240594834_240594835insCCCCAGGAGCCGGGAGGAGGGTGATGATTCTG | CA2663979774 | CAPN10 | c.997+125_997+126insCCCCAGGAGCCGGGAGGAGGGTGATGATTCTG (n.997+125_997+126insCCCCAGGAGCCGGGAGGAGGGTGATGATTCTG) c.*161+125_*161+126insCCCCAGGAGCCGGGAGGAGGGTGATGATTCTG (n.*161+125_*161+126insCCCCAGGAGCCGGGAGGAGGGTGATGATTCTG) c.273+5360_273+5361insCCCCAGGAGCCGGGAGGAGGGTGATGATTCTG (n.273+5360_273+5361insCCCCAGGAGCCGGGAGGAGGGTGATGATTCTG) c.142-3054_142-3053insCCCCAGGAGCCGGGAGGAGGGTGATGATTCTG (n.142-3054_142-3053insCCCCAGGAGCCGGGAGGAGGGTGATGATTCTG) n.469+125_469+126insCCCCAGGAGCCGGGAGGAGGGTGATGATTCTG n.2576+125_2576+126insCCCCAGGAGCCGGGAGGAGGGTGATGATTCTG | gnomAD v4 |
2 | g.240594834_240594835insACCCAGGAGCCGGGAGGAGGGTGATGATTCTG | CA1044051894 | CAPN10 | c.997+125_997+126insACCCAGGAGCCGGGAGGAGGGTGATGATTCTG (n.997+125_997+126insACCCAGGAGCCGGGAGGAGGGTGATGATTCTG) c.*161+125_*161+126insACCCAGGAGCCGGGAGGAGGGTGATGATTCTG (n.*161+125_*161+126insACCCAGGAGCCGGGAGGAGGGTGATGATTCTG) c.273+5360_273+5361insACCCAGGAGCCGGGAGGAGGGTGATGATTCTG (n.273+5360_273+5361insACCCAGGAGCCGGGAGGAGGGTGATGATTCTG) c.142-3054_142-3053insACCCAGGAGCCGGGAGGAGGGTGATGATTCTG (n.142-3054_142-3053insACCCAGGAGCCGGGAGGAGGGTGATGATTCTG) n.469+125_469+126insACCCAGGAGCCGGGAGGAGGGTGATGATTCTG n.2576+125_2576+126insACCCAGGAGCCGGGAGGAGGGTGATGATTCTG | gnomAD v3 gnomAD v4 |
2 | g.240594835_240594836insACCAGGAGCCGGGAGGAGGGTGATGATTCTGT | CA2663979767 | CAPN10 | c.997+126_997+127insACCAGGAGCCGGGAGGAGGGTGATGATTCTGT (n.997+126_997+127insACCAGGAGCCGGGAGGAGGGTGATGATTCTGT) c.*161+126_*161+127insACCAGGAGCCGGGAGGAGGGTGATGATTCTGT (n.*161+126_*161+127insACCAGGAGCCGGGAGGAGGGTGATGATTCTGT) c.273+5361_273+5362insACCAGGAGCCGGGAGGAGGGTGATGATTCTGT (n.273+5361_273+5362insACCAGGAGCCGGGAGGAGGGTGATGATTCTGT) c.142-3053_142-3052insACCAGGAGCCGGGAGGAGGGTGATGATTCTGT (n.142-3053_142-3052insACCAGGAGCCGGGAGGAGGGTGATGATTCTGT) n.469+126_469+127insACCAGGAGCCGGGAGGAGGGTGATGATTCTGT n.2576+126_2576+127insACCAGGAGCCGGGAGGAGGGTGATGATTCTGT | gnomAD v4 |
2 | g.240594835_240594836insGCCAGGAGCCGGGAGGAGGGTGATGATTCTGT | CA2663979706 | CAPN10 | c.997+126_997+127insGCCAGGAGCCGGGAGGAGGGTGATGATTCTGT (n.997+126_997+127insGCCAGGAGCCGGGAGGAGGGTGATGATTCTGT) c.*161+126_*161+127insGCCAGGAGCCGGGAGGAGGGTGATGATTCTGT (n.*161+126_*161+127insGCCAGGAGCCGGGAGGAGGGTGATGATTCTGT) c.273+5361_273+5362insGCCAGGAGCCGGGAGGAGGGTGATGATTCTGT (n.273+5361_273+5362insGCCAGGAGCCGGGAGGAGGGTGATGATTCTGT) c.142-3053_142-3052insGCCAGGAGCCGGGAGGAGGGTGATGATTCTGT (n.142-3053_142-3052insGCCAGGAGCCGGGAGGAGGGTGATGATTCTGT) n.469+126_469+127insGCCAGGAGCCGGGAGGAGGGTGATGATTCTGT n.2576+126_2576+127insGCCAGGAGCCGGGAGGAGGGTGATGATTCTGT | gnomAD v4 |
2 | g.240594835_240594836insTCCAGGAGCCGGGAGGAGGGTGATGATTCTGT | CA2663979704 | CAPN10 | c.997+126_997+127insTCCAGGAGCCGGGAGGAGGGTGATGATTCTGT (n.997+126_997+127insTCCAGGAGCCGGGAGGAGGGTGATGATTCTGT) c.*161+126_*161+127insTCCAGGAGCCGGGAGGAGGGTGATGATTCTGT (n.*161+126_*161+127insTCCAGGAGCCGGGAGGAGGGTGATGATTCTGT) c.273+5361_273+5362insTCCAGGAGCCGGGAGGAGGGTGATGATTCTGT (n.273+5361_273+5362insTCCAGGAGCCGGGAGGAGGGTGATGATTCTGT) c.142-3053_142-3052insTCCAGGAGCCGGGAGGAGGGTGATGATTCTGT (n.142-3053_142-3052insTCCAGGAGCCGGGAGGAGGGTGATGATTCTGT) n.469+126_469+127insTCCAGGAGCCGGGAGGAGGGTGATGATTCTGT n.2576+126_2576+127insTCCAGGAGCCGGGAGGAGGGTGATGATTCTGT | gnomAD v4 |
2 | g.240594836_240594837insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC | CA2663979763 | CAPN10 | c.997+127_997+128insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC (n.997+127_997+128insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC) c.*161+127_*161+128insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC (n.*161+127_*161+128insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC) c.273+5362_273+5363insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC (n.273+5362_273+5363insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC) c.142-3052_142-3051insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC (n.142-3052_142-3051insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC) n.469+127_469+128insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC n.2576+127_2576+128insACAGCAGCCGCGAGGAGGGTGATGATTCTGTC | gnomAD v4 |
2 | g.240594836_240594837insTCAGGAGCCGGGAGGAGGGTGATGATTCTGTC | CA916813199 | CAPN10 | c.997+127_997+128insTCAGGAGCCGGGAGGAGGGTGATGATTCTGTC (n.997+127_997+128insTCAGGAGCCGGGAGGAGGGTGATGATTCTGTC) c.*161+127_*161+128insTCAGGAGCCGGGAGGAGGGTGATGATTCTGTC (n.*161+127_*161+128insTCAGGAGCCGGGAGGAGGGTGATGATTCTGTC) c.273+5362_273+5363insTCAGGAGCCGGGAGGAGGGTGATGATTCTGTC (n.273+5362_273+5363insTCAGGAGCCGGGAGGAGGGTGATGATTCTGTC) c.142-3052_142-3051insTCAGGAGCCGGGAGGAGGGTGATGATTCTGTC (n.142-3052_142-3051insTCAGGAGCCGGGAGGAGGGTGATGATTCTGTC) n.469+127_469+128insTCAGGAGCCGGGAGGAGGGTGATGATTCTGTC n.2576+127_2576+128insTCAGGAGCCGGGAGGAGGGTGATGATTCTGTC | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240594836_240594837insACAGGAGCAGGGAGGAGGGTGATGATTCTGTC | CA2663979757 | CAPN10 | c.997+127_997+128insACAGGAGCAGGGAGGAGGGTGATGATTCTGTC (n.997+127_997+128insACAGGAGCAGGGAGGAGGGTGATGATTCTGTC) c.*161+127_*161+128insACAGGAGCAGGGAGGAGGGTGATGATTCTGTC (n.*161+127_*161+128insACAGGAGCAGGGAGGAGGGTGATGATTCTGTC) c.273+5362_273+5363insACAGGAGCAGGGAGGAGGGTGATGATTCTGTC (n.273+5362_273+5363insACAGGAGCAGGGAGGAGGGTGATGATTCTGTC) c.142-3052_142-3051insACAGGAGCAGGGAGGAGGGTGATGATTCTGTC (n.142-3052_142-3051insACAGGAGCAGGGAGGAGGGTGATGATTCTGTC) n.469+127_469+128insACAGGAGCAGGGAGGAGGGTGATGATTCTGTC n.2576+127_2576+128insACAGGAGCAGGGAGGAGGGTGATGATTCTGTC | gnomAD v4 |
2 | g.240594836_240594837insGCAGGAGCCGGGAGGAGGGTGATGATTCTGTC | CA2663979713 | CAPN10 | c.997+127_997+128insGCAGGAGCCGGGAGGAGGGTGATGATTCTGTC (n.997+127_997+128insGCAGGAGCCGGGAGGAGGGTGATGATTCTGTC) c.*161+127_*161+128insGCAGGAGCCGGGAGGAGGGTGATGATTCTGTC (n.*161+127_*161+128insGCAGGAGCCGGGAGGAGGGTGATGATTCTGTC) c.273+5362_273+5363insGCAGGAGCCGGGAGGAGGGTGATGATTCTGTC (n.273+5362_273+5363insGCAGGAGCCGGGAGGAGGGTGATGATTCTGTC) c.142-3052_142-3051insGCAGGAGCCGGGAGGAGGGTGATGATTCTGTC (n.142-3052_142-3051insGCAGGAGCCGGGAGGAGGGTGATGATTCTGTC) n.469+127_469+128insGCAGGAGCCGGGAGGAGGGTGATGATTCTGTC n.2576+127_2576+128insGCAGGAGCCGGGAGGAGGGTGATGATTCTGTC | gnomAD v4 |
2 | g.240594836_240594837insACAGGAGCCGGGAGGAGGGTGATGATTCTGTC | CA2663979753 | CAPN10 | c.997+127_997+128insACAGGAGCCGGGAGGAGGGTGATGATTCTGTC (n.997+127_997+128insACAGGAGCCGGGAGGAGGGTGATGATTCTGTC) c.*161+127_*161+128insACAGGAGCCGGGAGGAGGGTGATGATTCTGTC (n.*161+127_*161+128insACAGGAGCCGGGAGGAGGGTGATGATTCTGTC) c.273+5362_273+5363insACAGGAGCCGGGAGGAGGGTGATGATTCTGTC (n.273+5362_273+5363insACAGGAGCCGGGAGGAGGGTGATGATTCTGTC) c.142-3052_142-3051insACAGGAGCCGGGAGGAGGGTGATGATTCTGTC (n.142-3052_142-3051insACAGGAGCCGGGAGGAGGGTGATGATTCTGTC) n.469+127_469+128insACAGGAGCCGGGAGGAGGGTGATGATTCTGTC n.2576+127_2576+128insACAGGAGCCGGGAGGAGGGTGATGATTCTGTC | gnomAD v4 |
2 | g.240594837_240594838insAGGAGCCGGGAGGAGGGTGATGATTCTGTCC | CA2607661244 | CAPN10 | c.997+128_997+129insAGGAGCCGGGAGGAGGGTGATGATTCTGTCC (n.997+128_997+129insAGGAGCCGGGAGGAGGGTGATGATTCTGTCC) c.*161+128_*161+129insAGGAGCCGGGAGGAGGGTGATGATTCTGTCC (n.*161+128_*161+129insAGGAGCCGGGAGGAGGGTGATGATTCTGTCC) c.273+5363_273+5364insAGGAGCCGGGAGGAGGGTGATGATTCTGTCC (n.273+5363_273+5364insAGGAGCCGGGAGGAGGGTGATGATTCTGTCC) c.142-3051_142-3050insAGGAGCCGGGAGGAGGGTGATGATTCTGTCC (n.142-3051_142-3050insAGGAGCCGGGAGGAGGGTGATGATTCTGTCC) n.469+128_469+129insAGGAGCCGGGAGGAGGGTGATGATTCTGTCC n.2576+128_2576+129insAGGAGCCGGGAGGAGGGTGATGATTCTGTCC | gnomAD v3 gnomAD v4 |
2 | g.240594837_240594838insTAGGAGCCGGGAGGAGGGTGATGATTCTGTCC | CA1044051831 | CAPN10 | c.997+128_997+129insTAGGAGCCGGGAGGAGGGTGATGATTCTGTCC (n.997+128_997+129insTAGGAGCCGGGAGGAGGGTGATGATTCTGTCC) c.*161+128_*161+129insTAGGAGCCGGGAGGAGGGTGATGATTCTGTCC (n.*161+128_*161+129insTAGGAGCCGGGAGGAGGGTGATGATTCTGTCC) c.273+5363_273+5364insTAGGAGCCGGGAGGAGGGTGATGATTCTGTCC (n.273+5363_273+5364insTAGGAGCCGGGAGGAGGGTGATGATTCTGTCC) c.142-3051_142-3050insTAGGAGCCGGGAGGAGGGTGATGATTCTGTCC (n.142-3051_142-3050insTAGGAGCCGGGAGGAGGGTGATGATTCTGTCC) n.469+128_469+129insTAGGAGCCGGGAGGAGGGTGATGATTCTGTCC n.2576+128_2576+129insTAGGAGCCGGGAGGAGGGTGATGATTCTGTCC | gnomAD v3 gnomAD v4 |
2 | g.240594837_240594838insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC | CA2663979731 | CAPN10 | c.997+128_997+129insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC (n.997+128_997+129insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC) c.*161+128_*161+129insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC (n.*161+128_*161+129insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC) c.273+5363_273+5364insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC (n.273+5363_273+5364insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC) c.142-3051_142-3050insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC (n.142-3051_142-3050insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC) n.469+128_469+129insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC n.2576+128_2576+129insAAGGAGCCGGGAGGAGGGTGATGATTCTGTCC | gnomAD v4 |
2 | g.240594837_240594838insGAGGAGCCGGGAGGAGGGTGATGATTCTGTCC | CA1044051829 | CAPN10 | c.997+128_997+129insGAGGAGCCGGGAGGAGGGTGATGATTCTGTCC (n.997+128_997+129insGAGGAGCCGGGAGGAGGGTGATGATTCTGTCC) c.*161+128_*161+129insGAGGAGCCGGGAGGAGGGTGATGATTCTGTCC (n.*161+128_*161+129insGAGGAGCCGGGAGGAGGGTGATGATTCTGTCC) c.273+5363_273+5364insGAGGAGCCGGGAGGAGGGTGATGATTCTGTCC (n.273+5363_273+5364insGAGGAGCCGGGAGGAGGGTGATGATTCTGTCC) c.142-3051_142-3050insGAGGAGCCGGGAGGAGGGTGATGATTCTGTCC (n.142-3051_142-3050insGAGGAGCCGGGAGGAGGGTGATGATTCTGTCC) n.469+128_469+129insGAGGAGCCGGGAGGAGGGTGATGATTCTGTCC n.2576+128_2576+129insGAGGAGCCGGGAGGAGGGTGATGATTCTGTCC | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240594838_240594839insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC | CA2663979722 | CAPN10 | c.997+129_997+130insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC (n.997+129_997+130insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC) c.*161+129_*161+130insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC (n.*161+129_*161+130insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC) c.273+5364_273+5365insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC (n.273+5364_273+5365insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC) c.142-3050_142-3049insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC (n.142-3050_142-3049insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC) n.469+129_469+130insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC n.2576+129_2576+130insCGGAGCCGGGAGGAGGGTGATGATTCTGTCCC | gnomAD v4 |
2 | g.240594838_240594839insGGGAGCCGGGAGGAGGGTGATGATTCTGTCCC | CA1044051811 | CAPN10 | c.997+129_997+130insGGGAGCCGGGAGGAGGGTGATGATTCTGTCCC (n.997+129_997+130insGGGAGCCGGGAGGAGGGTGATGATTCTGTCCC) c.*161+129_*161+130insGGGAGCCGGGAGGAGGGTGATGATTCTGTCCC (n.*161+129_*161+130insGGGAGCCGGGAGGAGGGTGATGATTCTGTCCC) c.273+5364_273+5365insGGGAGCCGGGAGGAGGGTGATGATTCTGTCCC (n.273+5364_273+5365insGGGAGCCGGGAGGAGGGTGATGATTCTGTCCC) c.142-3050_142-3049insGGGAGCCGGGAGGAGGGTGATGATTCTGTCCC (n.142-3050_142-3049insGGGAGCCGGGAGGAGGGTGATGATTCTGTCCC) n.469+129_469+130insGGGAGCCGGGAGGAGGGTGATGATTCTGTCCC n.2576+129_2576+130insGGGAGCCGGGAGGAGGGTGATGATTCTGTCCC | dbSNP gnomAD v3 gnomAD v4 |