Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38502765_38502830del | CA995717507 | RYR1 | c.7835+38_7836-50del (n.7835+38_7836-50del) c.7832+38_7833-50del (n.7832+38_7833-50del) c.1287+38_1288-50del n.7918+38_7919-50del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502771_38502830del | CA9415836 | RYR1 | c.7835+44_7836-50del (n.7835+44_7836-50del) c.7832+44_7833-50del (n.7832+44_7833-50del) c.1287+44_1288-50del n.7918+44_7919-50del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502777_38502830del | CA9415852 | RYR1 | c.7835+50_7836-50del (n.7835+50_7836-50del) c.7832+50_7833-50del (n.7832+50_7833-50del) c.1287+50_1288-50del n.7918+50_7919-50del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502783_38502830del | CA9415868 | RYR1 | c.7835+56_7836-50del (n.7835+56_7836-50del) c.7832+56_7833-50del (n.7832+56_7833-50del) c.1287+56_1288-50del n.7918+56_7919-50del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502789_38502830del | CA9415883 | RYR1 | c.7835+62_7836-50del (n.7835+62_7836-50del) c.7832+62_7833-50del (n.7832+62_7833-50del) c.1287+62_1288-50del n.7918+62_7919-50del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502778_38502831del | CA2584900733 | RYR1 | c.7835+51_7836-49del (n.7835+51_7836-49del) c.7832+51_7833-49del (n.7832+51_7833-49del) c.1287+51_1288-49del n.7918+51_7919-49del | gnomAD v4 |
19 | g.38502795_38502830dup | CA995717850 | RYR1 | c.7835+68_7836-50dup (n.7835+68_7836-50dup) c.7832+68_7833-50dup (n.7832+68_7833-50dup) c.1287+68_1288-50dup n.7918+68_7919-50dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502795_38502830del | CA9415891 | RYR1 | c.7835+68_7836-50del (n.7835+68_7836-50del) c.7832+68_7833-50del (n.7832+68_7833-50del) c.1287+68_1288-50del n.7918+68_7919-50del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502780_38502833del | CA2538484218 | RYR1 | c.7835+53_7836-47del (n.7835+53_7836-47del) c.7832+53_7833-47del (n.7832+53_7833-47del) c.1287+53_1288-47del n.7918+53_7919-47del | |
19 | g.38502782_38502830del | CA2814347093 | RYR1 | c.7835+55_7836-50del (n.7835+55_7836-50del) c.7832+55_7833-50del (n.7832+55_7833-50del) c.1287+55_1288-50del n.7918+55_7919-50del | |
19 | g.38502801_38502830del | CA507353992 | RYR1 | c.7835+74_7836-50del (n.7835+74_7836-50del) c.7832+74_7833-50del (n.7832+74_7833-50del) c.1287+74_1288-50del n.7918+74_7919-50del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502787_38502820del | CA2814347125 | RYR1 | c.7835+60_7836-60del (n.7835+60_7836-60del) c.7832+60_7833-60del (n.7832+60_7833-60del) c.1287+60_1288-60del n.7918+60_7919-60del | |
19 | g.38502790_38502821del | CA2584900782 | RYR1 | c.7835+63_7836-59del (n.7835+63_7836-59del) c.7832+63_7833-59del (n.7832+63_7833-59del) c.1287+63_1288-59del n.7918+63_7919-59del | gnomAD v4 |
19 | g.38502788_38502822delinsGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGC | CA2335054603 | RYR1 | c.7835+61_7836-58delinsGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGC (n.7835+61_7836-58delinsGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGC) c.7832+61_7833-58delinsGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGC (n.7832+61_7833-58delinsGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGC) c.1287+61_1288-58delinsGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGC n.7918+61_7919-58delinsGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGC | |
19 | g.38502789_38502822del | CA995717994 | RYR1 | c.7835+62_7836-58del (n.7835+62_7836-58del) c.7832+62_7833-58del (n.7832+62_7833-58del) c.1287+62_1288-58del n.7918+62_7919-58del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502793_38502840del | CA2584900785 | RYR1 | c.7835+66_7836-40del (n.7835+66_7836-40del) c.7832+66_7833-40del (n.7832+66_7833-40del) c.1287+66_1288-40del n.7918+66_7919-40del | gnomAD v4 |
19 | g.38502807_38502830dup | CA633066279 | RYR1 | c.7836-73_7836-50dup (n.7836-73_7836-50dup) c.7833-73_7833-50dup (n.7833-73_7833-50dup) c.1288-73_1288-50dup n.7919-73_7919-50dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502807_38502830del | CA507353993 | RYR1 | c.7836-73_7836-50del (n.7836-73_7836-50del) c.7833-73_7833-50del (n.7833-73_7833-50del) c.1288-73_1288-50del n.7919-73_7919-50del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502792_38502833del | CA2584900792 | RYR1 | c.7835+65_7836-47del (n.7835+65_7836-47del) c.7832+65_7833-47del (n.7832+65_7833-47del) c.1287+65_1288-47del n.7918+65_7919-47del | gnomAD v4 |
19 | g.38502793_38502820delinsAGGGGCAGGGGCAGGGGGAGGAGCAGGG | CA2335054617 | RYR1 | c.7835+66_7836-60delinsAGGGGCAGGGGCAGGGGGAGGAGCAGGG (n.7835+66_7836-60delinsAGGGGCAGGGGCAGGGGGAGGAGCAGGG) c.7832+66_7833-60delinsAGGGGCAGGGGCAGGGGGAGGAGCAGGG (n.7832+66_7833-60delinsAGGGGCAGGGGCAGGGGGAGGAGCAGGG) c.1287+66_1288-60delinsAGGGGCAGGGGCAGGGGGAGGAGCAGGG n.7918+66_7919-60delinsAGGGGCAGGGGCAGGGGGAGGAGCAGGG | |
19 | g.38502793_38502823del | CA2814347162 | RYR1 | c.7835+66_7836-57del (n.7835+66_7836-57del) c.7832+66_7833-57del (n.7832+66_7833-57del) c.1287+66_1288-57del n.7918+66_7919-57del | |
19 | g.38502793_38502825del | CA2584900801 | RYR1 | c.7835+66_7836-55del (n.7835+66_7836-55del) c.7832+66_7833-55del (n.7832+66_7833-55del) c.1287+66_1288-55del n.7918+66_7919-55del | gnomAD v4 |
19 | g.38502795_38502821del | CA995718092 | RYR1 | c.7835+68_7836-59del (n.7835+68_7836-59del) c.7832+68_7833-59del (n.7832+68_7833-59del) c.1287+68_1288-59del n.7918+68_7919-59del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502794_38502827del | CA2584900811 | RYR1 | c.7835+67_7836-53del (n.7835+67_7836-53del) c.7832+67_7833-53del (n.7832+67_7833-53del) c.1287+67_1288-53del n.7918+67_7919-53del | gnomAD v4 |
19 | g.38502795_38502822del | CA2584900818 | RYR1 | c.7835+68_7836-58del (n.7835+68_7836-58del) c.7832+68_7833-58del (n.7832+68_7833-58del) c.1287+68_1288-58del n.7918+68_7919-58del | gnomAD v4 |
19 | g.38502796_38502831del | CA2584900819 | RYR1 | c.7835+69_7836-49del (n.7835+69_7836-49del) c.7832+69_7833-49del (n.7832+69_7833-49del) c.1287+69_1288-49del n.7918+69_7919-49del | gnomAD v4 |
19 | g.38502810_38502827dup | CA633066293 | RYR1 | c.7836-70_7836-53dup (n.7836-70_7836-53dup) c.7833-70_7833-53dup (n.7833-70_7833-53dup) c.1288-70_1288-53dup n.7919-70_7919-53dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502810_38502827del | CA507353994 | RYR1 | c.7836-70_7836-53del (n.7836-70_7836-53del) c.7833-70_7833-53del (n.7833-70_7833-53del) c.1288-70_1288-53del n.7919-70_7919-53del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502798_38502825delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG | CA2335054641 | RYR1 | c.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG (n.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG) c.7832+71_7833-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG (n.7832+71_7833-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG) c.1287+71_1288-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG n.7918+71_7919-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG | |
19 | g.38502799_38502820delinsAGGGGCAGGGGGAGGAGCAGGG | CA2335054644 | RYR1 | c.7835+72_7836-60delinsAGGGGCAGGGGGAGGAGCAGGG (n.7835+72_7836-60delinsAGGGGCAGGGGGAGGAGCAGGG) c.7832+72_7833-60delinsAGGGGCAGGGGGAGGAGCAGGG (n.7832+72_7833-60delinsAGGGGCAGGGGGAGGAGCAGGG) c.1287+72_1288-60delinsAGGGGCAGGGGGAGGAGCAGGG n.7918+72_7919-60delinsAGGGGCAGGGGGAGGAGCAGGG | |
19 | g.38502799_38502823del | CA2584900843 | RYR1 | c.7835+72_7836-57del (n.7835+72_7836-57del) c.7832+72_7833-57del (n.7832+72_7833-57del) c.1287+72_1288-57del n.7918+72_7919-57del | gnomAD v4 |
19 | g.38502799_38502825del | CA995718158 | RYR1 | c.7835+72_7836-55del (n.7835+72_7836-55del) c.7832+72_7833-55del (n.7832+72_7833-55del) c.1287+72_1288-55del n.7918+72_7919-55del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502799_38502828delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC | CA2335054643 | RYR1 | c.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC (n.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC) c.7832+72_7833-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC (n.7832+72_7833-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC) c.1287+72_1288-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC n.7918+72_7919-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC | |
19 | g.38502800_38502821del | CA2534497867 | RYR1 | c.7835+73_7836-59del (n.7835+73_7836-59del) c.7832+73_7833-59del (n.7832+73_7833-59del) c.1287+73_1288-59del n.7918+73_7919-59del | |
19 | g.38502801_38502821del | CA2335054655 | RYR1 | c.7835+74_7836-59del (n.7835+74_7836-59del) c.7832+74_7833-59del (n.7832+74_7833-59del) c.1287+74_1288-59del n.7918+74_7919-59del | dbSNP |
19 | g.38502800_38502827del | CA2584900846 | RYR1 | c.7835+73_7836-53del (n.7835+73_7836-53del) c.7832+73_7833-53del (n.7832+73_7833-53del) c.1287+73_1288-53del n.7918+73_7919-53del | gnomAD v4 |
19 | g.38502801_38502827del | CA2584900847 | RYR1 | c.7835+74_7836-53del (n.7835+74_7836-53del) c.7832+74_7833-53del (n.7832+74_7833-53del) c.1287+74_1288-53del n.7918+74_7919-53del | gnomAD v4 |
19 | g.38502800_38502828del | CA995718225 | RYR1 | c.7835+73_7836-52del (n.7835+73_7836-52del) c.7832+73_7833-52del (n.7832+73_7833-52del) c.1287+73_1288-52del n.7918+73_7919-52del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502801_38502831delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC | CA2335054656 | RYR1 | c.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC (n.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC) c.7832+74_7833-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC (n.7832+74_7833-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC) c.1287+74_1288-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC n.7918+74_7919-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC | |
19 | g.38502802_38502831del | CA995718238 | RYR1 | c.7835+75_7836-49del (n.7835+75_7836-49del) c.7832+75_7833-49del (n.7832+75_7833-49del) c.1287+75_1288-49del n.7918+75_7919-49del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insGAGGAGCAGGGGGAGGAGCAGGGG | CA2584900862 | RYR1 | c.7836-59_7836-58insGAGGAGCAGGGGGAGGAGCAGGGG (n.7836-59_7836-58insGAGGAGCAGGGGGAGGAGCAGGGG) c.7833-59_7833-58insGAGGAGCAGGGGGAGGAGCAGGGG (n.7833-59_7833-58insGAGGAGCAGGGGGAGGAGCAGGGG) c.1288-59_1288-58insGAGGAGCAGGGGGAGGAGCAGGGG n.7919-59_7919-58insGAGGAGCAGGGGGAGGAGCAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGAGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG | CA2535608033 | RYR1 | c.7836-59_7836-58insGAGGAGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG (n.7836-59_7836-58insGAGGAGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG) c.7833-59_7833-58insGAGGAGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG (n.7833-59_7833-58insGAGGAGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG) c.1288-59_1288-58insGAGGAGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG n.7919-59_7919-58insGAGGAGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG | gnomAD v4 |
19 | g.38502810_38502821dup | CA633066304 | RYR1 | c.7836-70_7836-59dup (n.7836-70_7836-59dup) c.7833-70_7833-59dup (n.7833-70_7833-59dup) c.1288-70_1288-59dup n.7919-70_7919-59dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502810_38502821del | CA633066307 | RYR1 | c.7836-70_7836-59del (n.7836-70_7836-59del) c.7833-70_7833-59del (n.7833-70_7833-59del) c.1288-70_1288-59del n.7919-70_7919-59del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502827_38502828insGAGGAGCAGGGGGAGGAGCAGGGGCAGGGG | CA2584900861 | RYR1 | c.7836-53_7836-52insGAGGAGCAGGGGGAGGAGCAGGGGCAGGGG (n.7836-53_7836-52insGAGGAGCAGGGGGAGGAGCAGGGGCAGGGG) c.7833-53_7833-52insGAGGAGCAGGGGGAGGAGCAGGGGCAGGGG (n.7833-53_7833-52insGAGGAGCAGGGGGAGGAGCAGGGGCAGGGG) c.1288-53_1288-52insGAGGAGCAGGGGGAGGAGCAGGGGCAGGGG n.7919-53_7919-52insGAGGAGCAGGGGGAGGAGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502804_38502825delinsCAGGGGGAGGAGCAGGGGCAGG | CA2335054661 | RYR1 | c.7836-76_7836-55delinsCAGGGGGAGGAGCAGGGGCAGG (n.7836-76_7836-55delinsCAGGGGGAGGAGCAGGGGCAGG) c.7833-76_7833-55delinsCAGGGGGAGGAGCAGGGGCAGG (n.7833-76_7833-55delinsCAGGGGGAGGAGCAGGGGCAGG) c.1288-76_1288-55delinsCAGGGGGAGGAGCAGGGGCAGG n.7919-76_7919-55delinsCAGGGGGAGGAGCAGGGGCAGG | |
19 | g.38502805_38502825del | CA995718305 | RYR1 | c.7836-75_7836-55del (n.7836-75_7836-55del) c.7833-75_7833-55del (n.7833-75_7833-55del) c.1288-75_1288-55del n.7919-75_7919-55del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502827del | CA2584900912 | RYR1 | c.7836-71_7836-53del (n.7836-71_7836-53del) c.7833-71_7833-53del (n.7833-71_7833-53del) c.1288-71_1288-53del n.7919-71_7919-53del | gnomAD v4 |
19 | g.38502807_38502827del | CA995718364 | RYR1 | c.7836-73_7836-53del (n.7836-73_7836-53del) c.7833-73_7833-53del (n.7833-73_7833-53del) c.1288-73_1288-53del n.7919-73_7919-53del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502806_38502831del | CA2584900913 | RYR1 | c.7836-74_7836-49del (n.7836-74_7836-49del) c.7833-74_7833-49del (n.7833-74_7833-49del) c.1288-74_1288-49del n.7919-74_7919-49del | gnomAD v4 |
19 | g.38502811_38502827del | CA2584900920 | RYR1 | c.7836-69_7836-53del (n.7836-69_7836-53del) c.7833-69_7833-53del (n.7833-69_7833-53del) c.1288-69_1288-53del n.7919-69_7919-53del | gnomAD v4 |
19 | g.38502807_38502828del | CA2814347278 | RYR1 | c.7836-73_7836-52del (n.7836-73_7836-52del) c.7833-73_7833-52del (n.7833-73_7833-52del) c.1288-73_1288-52del n.7919-73_7919-52del | |
19 | g.38502807_38502831delinsGGGGAGGAGCAGGGGCAGGGGCAGC | CA2335054669 | RYR1 | c.7836-73_7836-49delinsGGGGAGGAGCAGGGGCAGGGGCAGC (n.7836-73_7836-49delinsGGGGAGGAGCAGGGGCAGGGGCAGC) c.7833-73_7833-49delinsGGGGAGGAGCAGGGGCAGGGGCAGC (n.7833-73_7833-49delinsGGGGAGGAGCAGGGGCAGGGGCAGC) c.1288-73_1288-49delinsGGGGAGGAGCAGGGGCAGGGGCAGC n.7919-73_7919-49delinsGGGGAGGAGCAGGGGCAGGGGCAGC | |
19 | g.38502808_38502829delinsGGGAGGAGCAGGGGCAGGGGCA | CA2335054670 | RYR1 | c.7836-72_7836-51delinsGGGAGGAGCAGGGGCAGGGGCA (n.7836-72_7836-51delinsGGGAGGAGCAGGGGCAGGGGCA) c.7833-72_7833-51delinsGGGAGGAGCAGGGGCAGGGGCA (n.7833-72_7833-51delinsGGGAGGAGCAGGGGCAGGGGCA) c.1288-72_1288-51delinsGGGAGGAGCAGGGGCAGGGGCA n.7919-72_7919-51delinsGGGAGGAGCAGGGGCAGGGGCA | |
19 | g.38502808_38502831del | CA920105621 | RYR1 | c.7836-72_7836-49del (n.7836-72_7836-49del) c.7833-72_7833-49del (n.7833-72_7833-49del) c.1288-72_1288-49del n.7919-72_7919-49del | dbSNP |
19 | g.38502810_38502830del | CA995718415 | RYR1 | c.7836-70_7836-50del (n.7836-70_7836-50del) c.7833-70_7833-50del (n.7833-70_7833-50del) c.1288-70_1288-50del n.7919-70_7919-50del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502810_38502822delinsGAGGAGCAGGGGC | CA2335054685 | RYR1 | c.7836-70_7836-58delinsGAGGAGCAGGGGC (n.7836-70_7836-58delinsGAGGAGCAGGGGC) c.7833-70_7833-58delinsGAGGAGCAGGGGC (n.7833-70_7833-58delinsGAGGAGCAGGGGC) c.1288-70_1288-58delinsGAGGAGCAGGGGC n.7919-70_7919-58delinsGAGGAGCAGGGGC | |
19 | g.38502810_38502828delinsGAGGAGCAGGGGCAGGGGC | CA2335054683 | RYR1 | c.7836-70_7836-52delinsGAGGAGCAGGGGCAGGGGC (n.7836-70_7836-52delinsGAGGAGCAGGGGCAGGGGC) c.7833-70_7833-52delinsGAGGAGCAGGGGCAGGGGC (n.7833-70_7833-52delinsGAGGAGCAGGGGCAGGGGC) c.1288-70_1288-52delinsGAGGAGCAGGGGCAGGGGC n.7919-70_7919-52delinsGAGGAGCAGGGGCAGGGGC | |
19 | g.38502814_38502825del | CA882054252 | RYR1 | c.7836-66_7836-55del (n.7836-66_7836-55del) c.7833-66_7833-55del (n.7833-66_7833-55del) c.1288-66_1288-55del n.7919-66_7919-55del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502813_38502830del | CA995718486 | RYR1 | c.7836-67_7836-50del (n.7836-67_7836-50del) c.7833-67_7833-50del (n.7833-67_7833-50del) c.1288-67_1288-50del n.7919-67_7919-50del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502814_38502820del | CA2584900958 | RYR1 | c.7836-66_7836-60del (n.7836-66_7836-60del) c.7833-66_7833-60del (n.7833-66_7833-60del) c.1288-66_1288-60del n.7919-66_7919-60del | gnomAD v4 |
19 | g.38502813_38502827del | CA2584900959 | RYR1 | c.7836-67_7836-53del (n.7836-67_7836-53del) c.7833-67_7833-53del (n.7833-67_7833-53del) c.1288-67_1288-53del n.7919-67_7919-53del | gnomAD v4 |
19 | g.38502813_38502831delinsGAGCAGGGGCAGGGGCAGC | CA2335054693 | RYR1 | c.7836-67_7836-49delinsGAGCAGGGGCAGGGGCAGC (n.7836-67_7836-49delinsGAGCAGGGGCAGGGGCAGC) c.7833-67_7833-49delinsGAGCAGGGGCAGGGGCAGC (n.7833-67_7833-49delinsGAGCAGGGGCAGGGGCAGC) c.1288-67_1288-49delinsGAGCAGGGGCAGGGGCAGC n.7919-67_7919-49delinsGAGCAGGGGCAGGGGCAGC | |
19 | g.38502814_38502826delinsAGCAGGGGCAGGG | CA2335054698 | RYR1 | c.7836-66_7836-54delinsAGCAGGGGCAGGG (n.7836-66_7836-54delinsAGCAGGGGCAGGG) c.7833-66_7833-54delinsAGCAGGGGCAGGG (n.7833-66_7833-54delinsAGCAGGGGCAGGG) c.1288-66_1288-54delinsAGCAGGGGCAGGG n.7919-66_7919-54delinsAGCAGGGGCAGGG | |
19 | g.38502816_38502833del | CA2335054699 | RYR1 | c.7836-64_7836-47del (n.7836-64_7836-47del) c.7833-64_7833-47del (n.7833-64_7833-47del) c.1288-64_1288-47del n.7919-64_7919-47del | dbSNP gnomAD v4 |
19 | g.38502821_38502822insGAGGGCAGGGG | CA920105625 | RYR1 | c.7836-59_7836-58insGAGGGCAGGGG (n.7836-59_7836-58insGAGGGCAGGGG) c.7833-59_7833-58insGAGGGCAGGGG (n.7833-59_7833-58insGAGGGCAGGGG) c.1288-59_1288-58insGAGGGCAGGGG n.7919-59_7919-58insGAGGGCAGGGG | dbSNP |
19 | g.38502821_38502822insGAGGGGCAGGGG | CA995718581 | RYR1 | c.7836-59_7836-58insGAGGGGCAGGGG (n.7836-59_7836-58insGAGGGGCAGGGG) c.7833-59_7833-58insGAGGGGCAGGGG (n.7833-59_7833-58insGAGGGGCAGGGG) c.1288-59_1288-58insGAGGGGCAGGGG n.7919-59_7919-58insGAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insGAGGAGCAGGGGCAGGGG | CA995718585 | RYR1 | c.7836-59_7836-58insGAGGAGCAGGGGCAGGGG (n.7836-59_7836-58insGAGGAGCAGGGGCAGGGG) c.7833-59_7833-58insGAGGAGCAGGGGCAGGGG (n.7833-59_7833-58insGAGGAGCAGGGGCAGGGG) c.1288-59_1288-58insGAGGAGCAGGGGCAGGGG n.7919-59_7919-58insGAGGAGCAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insGAGGAGCAGGGGCAGGGGCAGGGG | CA2584900978 | RYR1 | c.7836-59_7836-58insGAGGAGCAGGGGCAGGGGCAGGGG (n.7836-59_7836-58insGAGGAGCAGGGGCAGGGGCAGGGG) c.7833-59_7833-58insGAGGAGCAGGGGCAGGGGCAGGGG (n.7833-59_7833-58insGAGGAGCAGGGGCAGGGGCAGGGG) c.1288-59_1288-58insGAGGAGCAGGGGCAGGGGCAGGGG n.7919-59_7919-58insGAGGAGCAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGCAG | CA2584900976 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG | CA2584900977 | RYR1 | c.7836-50_7836-49insGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG) c.7833-50_7833-49insGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG) c.1288-50_1288-49insGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG n.7919-50_7919-49insGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG | CA995718589 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG | gnomAD v3 gnomAD v4 |
19 | g.38502825_38502830dup | CA308112974 | RYR1 | c.7836-55_7836-50dup (n.7836-55_7836-50dup) c.7833-55_7833-50dup (n.7833-55_7833-50dup) c.1288-55_1288-50dup n.7919-55_7919-50dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502819_38502830dup | CA995718557 | RYR1 | c.7836-61_7836-50dup (n.7836-61_7836-50dup) c.7833-61_7833-50dup (n.7833-61_7833-50dup) c.1288-61_1288-50dup n.7919-61_7919-50dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502825_38502830del | CA2576771135 | RYR1 | c.7836-55_7836-50del (n.7836-55_7836-50del) c.7833-55_7833-50del (n.7833-55_7833-50del) c.1288-55_1288-50del n.7919-55_7919-50del | gnomAD v4 |
19 | g.38502819_38502830del | CA882054274 | RYR1 | c.7836-61_7836-50del (n.7836-61_7836-50del) c.7833-61_7833-50del (n.7833-61_7833-50del) c.1288-61_1288-50del n.7919-61_7919-50del | dbSNP gnomAD v4 |
19 | g.38502820_38502821insTCAGGG | CA2335054704 | RYR1 | c.7836-60_7836-59insTCAGGG (n.7836-60_7836-59insTCAGGG) c.7833-60_7833-59insTCAGGG (n.7833-60_7833-59insTCAGGG) c.1288-60_1288-59insTCAGGG n.7919-60_7919-59insTCAGGG | dbSNP |
19 | g.38502821_38502822insGAGGACCAGGGG | CA2832581617 | RYR1 | c.7836-59_7836-58insGAGGACCAGGGG (n.7836-59_7836-58insGAGGACCAGGGG) c.7833-59_7833-58insGAGGACCAGGGG (n.7833-59_7833-58insGAGGACCAGGGG) c.1288-59_1288-58insGAGGACCAGGGG n.7919-59_7919-58insGAGGACCAGGGG | |
19 | g.38502816_38502829del | CA2584900988 | RYR1 | c.7836-64_7836-51del (n.7836-64_7836-51del) c.7833-64_7833-51del (n.7833-64_7833-51del) c.1288-64_1288-51del n.7919-64_7919-51del | gnomAD v4 |
19 | g.38502820_38502821insAGAGGGGGAGGG | CA995718693 | RYR1 | c.7836-60_7836-59insAGAGGGGGAGGG (n.7836-60_7836-59insAGAGGGGGAGGG) c.7833-60_7833-59insAGAGGGGGAGGG (n.7833-60_7833-59insAGAGGGGGAGGG) c.1288-60_1288-59insAGAGGGGGAGGG n.7919-60_7919-59insAGAGGGGGAGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502820_38502821insAGAGGGGGAGGGGGAGGG | CA2584901024 | RYR1 | c.7836-60_7836-59insAGAGGGGGAGGGGGAGGG (n.7836-60_7836-59insAGAGGGGGAGGGGGAGGG) c.7833-60_7833-59insAGAGGGGGAGGGGGAGGG (n.7833-60_7833-59insAGAGGGGGAGGGGGAGGG) c.1288-60_1288-59insAGAGGGGGAGGGGGAGGG n.7919-60_7919-59insAGAGGGGGAGGGGGAGGG | gnomAD v4 |
19 | g.38502817_38502821del | CA2584901011 | RYR1 | c.7836-63_7836-59del (n.7836-63_7836-59del) c.7833-63_7833-59del (n.7833-63_7833-59del) c.1288-63_1288-59del n.7919-63_7919-59del | gnomAD v4 |
19 | g.38502821_38502822insGAGGGG | CA633066330 | RYR1 | c.7836-59_7836-58insGAGGGG (n.7836-59_7836-58insGAGGGG) c.7833-59_7833-58insGAGGGG (n.7833-59_7833-58insGAGGGG) c.1288-59_1288-58insGAGGGG n.7919-59_7919-58insGAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insAGGGGGAGGGG | CA2814347329 | RYR1 | c.7836-59_7836-58insAGGGGGAGGGG (n.7836-59_7836-58insAGGGGGAGGGG) c.7833-59_7833-58insAGGGGGAGGGG (n.7833-59_7833-58insAGGGGGAGGGG) c.1288-59_1288-58insAGGGGGAGGGG n.7919-59_7919-58insAGGGGGAGGGG | |
19 | g.38502821_38502822insGGGGGGAGGGG | CA2814347325 | RYR1 | c.7836-59_7836-58insGGGGGGAGGGG (n.7836-59_7836-58insGGGGGGAGGGG) c.7833-59_7833-58insGGGGGGAGGGG (n.7833-59_7833-58insGGGGGGAGGGG) c.1288-59_1288-58insGGGGGGAGGGG n.7919-59_7919-58insGGGGGGAGGGG | |
19 | g.38502821_38502822insGAGAGGGAGGGG | CA995718650 | RYR1 | c.7836-59_7836-58insGAGAGGGAGGGG (n.7836-59_7836-58insGAGAGGGAGGGG) c.7833-59_7833-58insGAGAGGGAGGGG (n.7833-59_7833-58insGAGAGGGAGGGG) c.1288-59_1288-58insGAGAGGGAGGGG n.7919-59_7919-58insGAGAGGGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGG | CA633066333 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insGCGGGGGAGGGG | CA2584901006 | RYR1 | c.7836-59_7836-58insGCGGGGGAGGGG (n.7836-59_7836-58insGCGGGGGAGGGG) c.7833-59_7833-58insGCGGGGGAGGGG (n.7833-59_7833-58insGCGGGGGAGGGG) c.1288-59_1288-58insGCGGGGGAGGGG n.7919-59_7919-58insGCGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGGGGGGGAGGGG | CA2584901007 | RYR1 | c.7836-59_7836-58insGGGGGGGAGGGG (n.7836-59_7836-58insGGGGGGGAGGGG) c.7833-59_7833-58insGGGGGGGAGGGG (n.7833-59_7833-58insGGGGGGGAGGGG) c.1288-59_1288-58insGGGGGGGAGGGG n.7919-59_7919-58insGGGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGGAGGGG | CA995718628 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGGAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGGGGGGGAGGGG | CA2584901005 | RYR1 | c.7836-59_7836-58insGAGGGGGGGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGGGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGGGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGGGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGGGGGGGAGGGG n.7919-59_7919-58insGAGGGGGGGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGCAGGGGGAGGGGGAGGGG | CA633066332 | RYR1 | c.7836-59_7836-58insGAGGGGCAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGCAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGCAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGCAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGCAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGCAGGGGGAGGGGGAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insGAGGGGCAGGGGCAGGGGGAGGGG | CA2584901029 | RYR1 | c.7836-59_7836-58insGAGGGGCAGGGGCAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGCAGGGGCAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGCAGGGGCAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGCAGGGGCAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGCAGGGGCAGGGGGAGGGG n.7919-59_7919-58insGAGGGGCAGGGGCAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGGAGGGGGAGGGG | CA2584900990 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | CA2582145390 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | CA2584901021 | RYR1 | c.7836-59_7836-58insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | CA2584901002 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGG | CA2584900999 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | CA995718637 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | CA995718633 | RYR1 | c.7836-59_7836-58insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | CA633066331 | RYR1 | c.7836-59_7836-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG | CA2584900996 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | CA995718624 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGCAGGGGCCGGGGGAGGGGGAGGGGGAGGGG | CA2584900993 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCCGGGGGAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCCGGGGGAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCCGGGGGAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCCGGGGGAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGCAGGGGCCGGGGGAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGCAGGGGCCGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGAGGGAGGGG | CA2584900995 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGAGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGAGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGAGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGAGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGAGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGAGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | CA2584901001 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG | CA2584900997 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGGGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | CA2584901004 | RYR1 | c.7836-59_7836-58insGAGGGGGGGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGGGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGGGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGGGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGGGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGGGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | CA2584900998 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGG | CA2584900992 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | CA2524001460 | RYR1 | c.7836-59_7836-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | CA2584900994 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG | CA2584901003 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | CA2584901000 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | CA2584901028 | RYR1 | c.7836-59_7836-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | CA2584900991 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | CA2584901026 | RYR1 | c.7836-59_7836-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502817_38502825del | CA2584901012 | RYR1 | c.7836-63_7836-55del (n.7836-63_7836-55del) c.7833-63_7833-55del (n.7833-63_7833-55del) c.1288-63_1288-55del n.7919-63_7919-55del | gnomAD v4 |
19 | g.38502827_38502828insGAGGGGCAGGGG | CA995718667 | RYR1 | c.7836-53_7836-52insGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502827_38502828insGGGAGGGGCAGGGG | CA2584901030 | RYR1 | c.7836-53_7836-52insGGGAGGGGCAGGGG (n.7836-53_7836-52insGGGAGGGGCAGGGG) c.7833-53_7833-52insGGGAGGGGCAGGGG (n.7833-53_7833-52insGGGAGGGGCAGGGG) c.1288-53_1288-52insGGGAGGGGCAGGGG n.7919-53_7919-52insGGGAGGGGCAGGGG | gnomAD v4 |
19 | g.38502827_38502828insGAGGGGGAGGGGCAGGGG | CA995718652 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGGAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502827_38502828insGAGGGGGAGGGGGAGGGGCAGGGG | CA2584901033 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGGGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGGAGGGGGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGGAGGGGGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGGAGGGGGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGGAGGGGGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGGAGGGGGAGGGGCAGGGG | dbSNP gnomAD v4 |
19 | g.38502827_38502828insGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | CA995718645 | RYR1 | c.7836-53_7836-52insGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502827_38502828insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | CA2584901034 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | gnomAD v4 |
19 | g.38502827_38502828insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG | CA2584901014 | RYR1 | c.7836-53_7836-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG | gnomAD v4 |
19 | g.38502827_38502828insGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | CA2584901015 | RYR1 | c.7836-53_7836-52insGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | gnomAD v4 |
19 | g.38502827_38502828insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | CA995718654 | RYR1 | c.7836-53_7836-52insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502827_38502828insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG | CA2335054706 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG | dbSNP gnomAD v4 |
19 | g.38502827_38502828insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | CA2584901031 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | gnomAD v4 |
19 | g.38502827_38502828insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG | CA2814347331 | RYR1 | c.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG | |
19 | g.38502827_38502828insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | CA2584901032 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | gnomAD v4 |
19 | g.38502827_38502828insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | CA2584901013 | RYR1 | c.7836-53_7836-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | gnomAD v4 |
19 | g.38502827_38502828insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | CA2582145391 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502827_38502828insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG | CA2584901025 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGCAGGGGCAG | CA995718685 | RYR1 | c.7836-50_7836-49insGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGCAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGCAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGCAGGGGCAG n.7919-50_7919-49insGGGGAGGGGCAGGGGCAG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGGAGGGGCAGGGGCAG | CA995718690 | RYR1 | c.7836-50_7836-49insGGGCAGGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGGAGGGGCAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGGAGGGGCAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGGAGGGGCAGGGGCAG n.7919-50_7919-49insGGGCAGGGGGAGGGGCAGGGGCAG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGGAGGGGCAGGGGCAG | CA2584901018 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGAGGGGCAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGAGGGGCAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGGAGGGGCAGGGGCAG n.7919-50_7919-49insGGGGAGGGGGAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG | CA2584901020 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGCAGGGGCAG | CA2584901017 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGCAG n.7919-50_7919-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGGGAGGGGGAGGGGCAGGGGCAG | CA2584901016 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGGAGGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGGAGGGGGAGGGGCAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGGGAGGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGGAGGGGGAGGGGCAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGGGAGGGGGAGGGGCAGGGGCAG n.7919-50_7919-49insGGGGAGGGGGGAGGGGGAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG | CA2584901019 | RYR1 | c.7836-50_7836-49insGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG n.7919-50_7919-49insGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG | CA2584901022 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAG | CA2525411784 | RYR1 | c.7836-50_7836-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAG n.7919-50_7919-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG | CA2584901023 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGGGGG | CA2584901037 | RYR1 | c.7836-59_7836-58insGAGGGGGGGGG (n.7836-59_7836-58insGAGGGGGGGGG) c.7833-59_7833-58insGAGGGGGGGGG (n.7833-59_7833-58insGAGGGGGGGGG) c.1288-59_1288-58insGAGGGGGGGGG n.7919-59_7919-58insGAGGGGGGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGCGGGG | CA2584901035 | RYR1 | c.7836-59_7836-58insGAGGGGGCGGGG (n.7836-59_7836-58insGAGGGGGCGGGG) c.7833-59_7833-58insGAGGGGGCGGGG (n.7833-59_7833-58insGAGGGGGCGGGG) c.1288-59_1288-58insGAGGGGGCGGGG n.7919-59_7919-58insGAGGGGGCGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGGGGGG | CA995718702 | RYR1 | c.7836-59_7836-58insGAGGGGGGGGGG (n.7836-59_7836-58insGAGGGGGGGGGG) c.7833-59_7833-58insGAGGGGGGGGGG (n.7833-59_7833-58insGAGGGGGGGGGG) c.1288-59_1288-58insGAGGGGGGGGGG n.7919-59_7919-58insGAGGGGGGGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502821del | CA2531796320 | RYR1 | c.7836-59del (n.7836-59del) c.7833-59del (n.7833-59del) c.1288-59del n.7919-59del | |
19 | g.38502822_38502823insCGGGGC | CA2736032409 | RYR1 | c.7836-58_7836-57insCGGGGC (n.7836-58_7836-57insCGGGGC) c.7833-58_7833-57insCGGGGC (n.7833-58_7833-57insCGGGGC) c.1288-58_1288-57insCGGGGC n.7919-58_7919-57insCGGGGC | dbSNP |
19 | g.38502819_38502827del | CA2584901036 | RYR1 | c.7836-61_7836-53del (n.7836-61_7836-53del) c.7833-61_7833-53del (n.7833-61_7833-53del) c.1288-61_1288-53del n.7919-61_7919-53del | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGGGGGGGCGGGGGCAGGGGCAG | CA2504081048 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGGGGGGGCGGGGGCAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGGGGGGGCGGGGGCAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGGGGGGGCGGGGGCAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGGGGGGGCGGGGGCAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGGGGGGGCGGGGGCAGGGGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGGGGGGGCGGGGGCAGGGGCAG | |
19 | g.38502820_38502839del | CA2584901038 | RYR1 | c.7836-60_7836-41del (n.7836-60_7836-41del) c.7833-60_7833-41del (n.7833-60_7833-41del) c.1288-60_1288-41del n.7919-60_7919-41del | gnomAD v4 |
19 | g.38502823_38502840del | CA2584901039 | RYR1 | c.7836-57_7836-40del (n.7836-57_7836-40del) c.7833-57_7833-40del (n.7833-57_7833-40del) c.1288-57_1288-40del n.7919-57_7919-40del | gnomAD v4 |
19 | g.38502820G>A | CA308112985 | RYR1 | c.7836-60G>A (n.7836-60G>A) c.7833-60G>A (n.7833-60G>A) c.1288-60G>A n.7919-60G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502820G>C | CA308112990 | RYR1 | c.7836-60G>C (n.7836-60G>C) c.7833-60G>C (n.7833-60G>C) c.1288-60G>C n.7919-60G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502820G= | CA2335054712 | RYR1 | c.7836-60G= (n.7836-60G=) c.7833-60G= (n.7833-60G=) c.1288-60G= n.7919-60G= | |
19 | g.38502820G>T | CA2584901041 | RYR1 | c.7836-60G>T (n.7836-60G>T) c.7833-60G>T (n.7833-60G>T) c.1288-60G>T n.7919-60G>T | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGAGG | CA995718709 | RYR1 | c.7836-59_7836-58insGAGGGGGAGAGG (n.7836-59_7836-58insGAGGGGGAGAGG) c.7833-59_7833-58insGAGGGGGAGAGG (n.7833-59_7833-58insGAGGGGGAGAGG) c.1288-59_1288-58insGAGGGGGAGAGG n.7919-59_7919-58insGAGGGGGAGAGG | gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGTGG | CA2582145392 | RYR1 | c.7836-59_7836-58insGAGGGGGAGTGG (n.7836-59_7836-58insGAGGGGGAGTGG) c.7833-59_7833-58insGAGGGGGAGTGG (n.7833-59_7833-58insGAGGGGGAGTGG) c.1288-59_1288-58insGAGGGGGAGTGG n.7919-59_7919-58insGAGGGGGAGTGG | gnomAD v3 gnomAD v4 |
19 | g.38502824_38502825insAGGCAG | CA2736032431 | RYR1 | c.7836-56_7836-55insAGGCAG (n.7836-56_7836-55insAGGCAG) c.7833-56_7833-55insAGGCAG (n.7833-56_7833-55insAGGCAG) c.1288-56_1288-55insAGGCAG n.7919-56_7919-55insAGGCAG | dbSNP |
19 | g.38502820_38502828delinsGGCAGGGGC | CA2335054714 | RYR1 | c.7836-60_7836-52delinsGGCAGGGGC (n.7836-60_7836-52delinsGGCAGGGGC) c.7833-60_7833-52delinsGGCAGGGGC (n.7833-60_7833-52delinsGGCAGGGGC) c.1288-60_1288-52delinsGGCAGGGGC n.7919-60_7919-52delinsGGCAGGGGC | |
19 | g.38502821G>A | CA633066335 | RYR1 | c.7836-59G>A (n.7836-59G>A) c.7833-59G>A (n.7833-59G>A) c.1288-59G>A n.7919-59G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502821G>C | CA2584901043 | RYR1 | c.7836-59G>C (n.7836-59G>C) c.7833-59G>C (n.7833-59G>C) c.1288-59G>C n.7919-59G>C | gnomAD v4 |
19 | g.38502821G= | CA2335054715 | RYR1 | c.7836-59G= (n.7836-59G=) c.7833-59G= (n.7833-59G=) c.1288-59G= n.7919-59G= | |
19 | g.38502821G>T | CA2584901042 | RYR1 | c.7836-59G>T (n.7836-59G>T) c.7833-59G>T (n.7833-59G>T) c.1288-59G>T n.7919-59G>T | gnomAD v4 |
19 | g.38502821_38502822insGAGGAG | CA995718716 | RYR1 | c.7836-59_7836-58insGAGGAG (n.7836-59_7836-58insGAGGAG) c.7833-59_7833-58insGAGGAG (n.7833-59_7833-58insGAGGAG) c.1288-59_1288-58insGAGGAG n.7919-59_7919-58insGAGGAG | gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insGAGGAGCAGGAG | CA2584901046 | RYR1 | c.7836-59_7836-58insGAGGAGCAGGAG (n.7836-59_7836-58insGAGGAGCAGGAG) c.7833-59_7833-58insGAGGAGCAGGAG (n.7833-59_7833-58insGAGGAGCAGGAG) c.1288-59_1288-58insGAGGAGCAGGAG n.7919-59_7919-58insGAGGAGCAGGAG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGAG | CA2584901045 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGAG (n.7836-59_7836-58insGAGGGGGAGGAG) c.7833-59_7833-58insGAGGGGGAGGAG (n.7833-59_7833-58insGAGGGGGAGGAG) c.1288-59_1288-58insGAGGGGGAGGAG n.7919-59_7919-58insGAGGGGGAGGAG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGCG | CA2584901044 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGCG (n.7836-59_7836-58insGAGGGGGAGGCG) c.7833-59_7833-58insGAGGGGGAGGCG (n.7833-59_7833-58insGAGGGGGAGGCG) c.1288-59_1288-58insGAGGGGGAGGCG n.7919-59_7919-58insGAGGGGGAGGCG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGCAGGGGGAGGGGGAGGCG | CA2335054713 | RYR1 | c.7836-59_7836-58insGAGGGGCAGGGGGAGGGGGAGGCG (n.7836-59_7836-58insGAGGGGCAGGGGGAGGGGGAGGCG) c.7833-59_7833-58insGAGGGGCAGGGGGAGGGGGAGGCG (n.7833-59_7833-58insGAGGGGCAGGGGGAGGGGGAGGCG) c.1288-59_1288-58insGAGGGGCAGGGGGAGGGGGAGGCG n.7919-59_7919-58insGAGGGGCAGGGGGAGGGGGAGGCG | dbSNP |
19 | g.38502821_38502822del | CA633066334 | RYR1 | c.7836-59_7836-58del (n.7836-59_7836-58del) c.7833-59_7833-58del (n.7833-59_7833-58del) c.1288-59_1288-58del n.7919-59_7919-58del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502827_38502828insGAGGAGCAGGGG | CA2584901047 | RYR1 | c.7836-53_7836-52insGAGGAGCAGGGG (n.7836-53_7836-52insGAGGAGCAGGGG) c.7833-53_7833-52insGAGGAGCAGGGG (n.7833-53_7833-52insGAGGAGCAGGGG) c.1288-53_1288-52insGAGGAGCAGGGG n.7919-53_7919-52insGAGGAGCAGGGG | gnomAD v4 |
19 | g.38502821_38502828del | CA995718718 | RYR1 | c.7836-59_7836-52del (n.7836-59_7836-52del) c.7833-59_7833-52del (n.7833-59_7833-52del) c.1288-59_1288-52del n.7919-59_7919-52del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGAGCAGGGGCAG | CA2584901048 | RYR1 | c.7836-50_7836-49insGGGGAGGAGCAGGGGCAG (n.7836-50_7836-49insGGGGAGGAGCAGGGGCAG) c.7833-50_7833-49insGGGGAGGAGCAGGGGCAG (n.7833-50_7833-49insGGGGAGGAGCAGGGGCAG) c.1288-50_1288-49insGGGGAGGAGCAGGGGCAG n.7919-50_7919-49insGGGGAGGAGCAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGGAGGAGCAGGGGCAG | CA2584901049 | RYR1 | c.7836-50_7836-49insGGGCAGGGGGAGGAGCAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGGAGGAGCAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGGAGGAGCAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGGAGGAGCAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGGAGGAGCAGGGGCAG n.7919-50_7919-49insGGGCAGGGGGAGGAGCAGGGGCAG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGA | CA2584901050 | RYR1 | c.7836-59_7836-58insGAGGGA (n.7836-59_7836-58insGAGGGA) c.7833-59_7833-58insGAGGGA (n.7833-59_7833-58insGAGGGA) c.1288-59_1288-58insGAGGGA n.7919-59_7919-58insGAGGGA | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGGAGGGT | CA2584901051 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGGAGGGT (n.7836-59_7836-58insGAGGGGGAGGGGGAGGGT) c.7833-59_7833-58insGAGGGGGAGGGGGAGGGT (n.7833-59_7833-58insGAGGGGGAGGGGGAGGGT) c.1288-59_1288-58insGAGGGGGAGGGGGAGGGT n.7919-59_7919-58insGAGGGGGAGGGGGAGGGT | gnomAD v4 |
19 | g.38502822C>A | CA995718732 | RYR1 | c.7836-58C>A (n.7836-58C>A) c.7833-58C>A (n.7833-58C>A) c.1288-58C>A n.7919-58C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502822C= | CA2335054716 | RYR1 | c.7836-58C= (n.7836-58C=) c.7833-58C= (n.7833-58C=) c.1288-58C= n.7919-58C= | |
19 | g.38502822C>G | CA308112995 | RYR1 | c.7836-58C>G (n.7836-58C>G) c.7833-58C>G (n.7833-58C>G) c.1288-58C>G n.7919-58C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502822C>T | CA308113015 | RYR1 | c.7836-58C>T (n.7836-58C>T) c.7833-58C>T (n.7833-58C>T) c.1288-58C>T n.7919-58C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502822_38502823del | CA995718727 | RYR1 | c.7836-58_7836-57del (n.7836-58_7836-57del) c.7833-58_7833-57del (n.7833-58_7833-57del) c.1288-58_1288-57del n.7919-58_7919-57del | gnomAD v3 gnomAD v4 |
19 | g.38502823A= | CA2335054719 | RYR1 | c.7836-57A= (n.7836-57A=) c.7833-57A= (n.7833-57A=) c.1288-57A= n.7919-57A= | |
19 | g.38502823A>C | CA882054299 | RYR1 | c.7836-57A>C (n.7836-57A>C) c.7833-57A>C (n.7833-57A>C) c.1288-57A>C n.7919-57A>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502823A>G | CA995718761 | RYR1 | c.7836-57A>G (n.7836-57A>G) c.7833-57A>G (n.7833-57A>G) c.1288-57A>G n.7919-57A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502823A>T | CA2335054718 | RYR1 | c.7836-57A>T (n.7836-57A>T) c.7833-57A>T (n.7833-57A>T) c.1288-57A>T n.7919-57A>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502823_38502826delinsAGGG | CA2335054717 | RYR1 | c.7836-57_7836-54delinsAGGG (n.7836-57_7836-54delinsAGGG) c.7833-57_7833-54delinsAGGG (n.7833-57_7833-54delinsAGGG) c.1288-57_1288-54delinsAGGG n.7919-57_7919-54delinsAGGG | |
19 | g.38502827_38502828insGAGGGG | CA995718775 | RYR1 | c.7836-53_7836-52insGAGGGG (n.7836-53_7836-52insGAGGGG) c.7833-53_7833-52insGAGGGG (n.7833-53_7833-52insGAGGGG) c.1288-53_1288-52insGAGGGG n.7919-53_7919-52insGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502827_38502828insGAGGGGGAGGGG | CA633066336 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGG (n.7836-53_7836-52insGAGGGGGAGGGG) c.7833-53_7833-52insGAGGGGGAGGGG (n.7833-53_7833-52insGAGGGGGAGGGG) c.1288-53_1288-52insGAGGGGGAGGGG n.7919-53_7919-52insGAGGGGGAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502827_38502828insGAGGAGCAGGGGGAGGGG | CA995718768 | RYR1 | c.7836-53_7836-52insGAGGAGCAGGGGGAGGGG (n.7836-53_7836-52insGAGGAGCAGGGGGAGGGG) c.7833-53_7833-52insGAGGAGCAGGGGGAGGGG (n.7833-53_7833-52insGAGGAGCAGGGGGAGGGG) c.1288-53_1288-52insGAGGAGCAGGGGGAGGGG n.7919-53_7919-52insGAGGAGCAGGGGGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502827_38502828insGAGGGGGAGGGGGAGGGG | CA995718751 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGGGAGGGG (n.7836-53_7836-52insGAGGGGGAGGGGGAGGGG) c.7833-53_7833-52insGAGGGGGAGGGGGAGGGG (n.7833-53_7833-52insGAGGGGGAGGGGGAGGGG) c.1288-53_1288-52insGAGGGGGAGGGGGAGGGG n.7919-53_7919-52insGAGGGGGAGGGGGAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502827_38502828insGAGGGGGAGGGGGAGGGGGAGGGG | CA2584901058 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-53_7836-52insGAGGGGGAGGGGGAGGGGGAGGGG) c.7833-53_7833-52insGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-53_7833-52insGAGGGGGAGGGGGAGGGGGAGGGG) c.1288-53_1288-52insGAGGGGGAGGGGGAGGGGGAGGGG n.7919-53_7919-52insGAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502827_38502828insGAGAGGGAGGGGGAGGGGGAGGGG | CA2584901054 | RYR1 | c.7836-53_7836-52insGAGAGGGAGGGGGAGGGGGAGGGG (n.7836-53_7836-52insGAGAGGGAGGGGGAGGGGGAGGGG) c.7833-53_7833-52insGAGAGGGAGGGGGAGGGGGAGGGG (n.7833-53_7833-52insGAGAGGGAGGGGGAGGGGGAGGGG) c.1288-53_1288-52insGAGAGGGAGGGGGAGGGGGAGGGG n.7919-53_7919-52insGAGAGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502827_38502828insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | CA2584901055 | RYR1 | c.7836-53_7836-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-53_7836-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.7833-53_7833-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-53_7833-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.1288-53_1288-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG n.7919-53_7919-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502827_38502828insGAGGGGGAGGGGGAGGGGGAGGGTGAGGGG | CA2814347342 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGGGAGGGGGAGGGTGAGGGG (n.7836-53_7836-52insGAGGGGGAGGGGGAGGGGGAGGGTGAGGGG) c.7833-53_7833-52insGAGGGGGAGGGGGAGGGGGAGGGTGAGGGG (n.7833-53_7833-52insGAGGGGGAGGGGGAGGGGGAGGGTGAGGGG) c.1288-53_1288-52insGAGGGGGAGGGGGAGGGGGAGGGTGAGGGG n.7919-53_7919-52insGAGGGGGAGGGGGAGGGGGAGGGTGAGGGG | |
19 | g.38502827_38502828insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | CA995718765 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-53_7836-52insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.7833-53_7833-52insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-53_7833-52insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.1288-53_1288-52insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG n.7919-53_7919-52insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | dbSNP gnomAD v4 |
19 | g.38502827_38502828insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | CA2584901056 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-53_7836-52insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.7833-53_7833-52insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-53_7833-52insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.1288-53_1288-52insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG n.7919-53_7919-52insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGCAG | CA995718779 | RYR1 | c.7836-50_7836-49insGGGGAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGCAG n.7919-50_7919-49insGGGGAGGGGCAG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGGAGGGGCAG | CA995718776 | RYR1 | c.7836-50_7836-49insGGGCAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGGAGGGGCAG n.7919-50_7919-49insGGGCAGGGGGAGGGGCAG | gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGGAGGGGCAG | CA2584901067 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGGAGGGGGAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGGAGGGGCAG | CA995718782 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGGAGGGGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGGAGGGGCAG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGGAGGGGGAGGGGCAG | CA2584901064 | RYR1 | c.7836-50_7836-49insGGGCAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGCAGGGGGAGGGGGAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGCAG | CA2582145393 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGGAGGGGGAGGGGGAGGGGCAG | gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG | CA2814347345 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG | |
19 | g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | CA995718780 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG | CA995718777 | RYR1 | c.7836-50_7836-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG | CA2584901059 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | CA995718778 | RYR1 | c.7836-50_7836-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG | CA2584901066 | RYR1 | c.7836-50_7836-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAG | CA2584901068 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG | CA2584901061 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | CA995718769 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | CA2584901052 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG | CA2584901057 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | CA2584901065 | RYR1 | c.7836-50_7836-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG | CA2584901053 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG n.7919-50_7919-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | CA2584901062 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | CA2584901063 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | CA2584901060 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | gnomAD v4 |
19 | g.38502824G>A | CA995718816 | RYR1 | c.7836-56G>A (n.7836-56G>A) c.7833-56G>A (n.7833-56G>A) c.1288-56G>A n.7919-56G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502824G>C | CA2584901069 | RYR1 | c.7836-56G>C (n.7836-56G>C) c.7833-56G>C (n.7833-56G>C) c.1288-56G>C n.7919-56G>C | gnomAD v4 |
19 | g.38502824G= | CA2335054721 | RYR1 | c.7836-56G= (n.7836-56G=) c.7833-56G= (n.7833-56G=) c.1288-56G= n.7919-56G= | |
19 | g.38502824G>T | CA2576771136 | RYR1 | c.7836-56G>T (n.7836-56G>T) c.7833-56G>T (n.7833-56G>T) c.1288-56G>T n.7919-56G>T | gnomAD v4 |
19 | g.38502827_38502828insGGGGGG | CA995718793 | RYR1 | c.7836-53_7836-52insGGGGGG (n.7836-53_7836-52insGGGGGG) c.7833-53_7833-52insGGGGGG (n.7833-53_7833-52insGGGGGG) c.1288-53_1288-52insGGGGGG n.7919-53_7919-52insGGGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502827_38502828insGAGGGGGAGGGGCGGGGG | CA995718792 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGGCGGGGG (n.7836-53_7836-52insGAGGGGGAGGGGCGGGGG) c.7833-53_7833-52insGAGGGGGAGGGGCGGGGG (n.7833-53_7833-52insGAGGGGGAGGGGCGGGGG) c.1288-53_1288-52insGAGGGGGAGGGGCGGGGG n.7919-53_7919-52insGAGGGGGAGGGGCGGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502825_38502827del | CA2335054720 | RYR1 | c.7836-55_7836-53del (n.7836-55_7836-53del) c.7833-55_7833-53del (n.7833-55_7833-53del) c.1288-55_1288-53del n.7919-55_7919-53del | dbSNP |
19 | g.38502830_38502831insGGGCAGGGGCCGGGGCAG | CA2584901071 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCCGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCCGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCCGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCCGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCCGGGGCAG n.7919-50_7919-49insGGGCAGGGGCCGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGCAGGGGGGGGGGCAG | CA2584901070 | RYR1 | c.7836-50_7836-49insGGGGAGGGGCAGGGGGGGGGGCAG (n.7836-50_7836-49insGGGGAGGGGCAGGGGGGGGGGCAG) c.7833-50_7833-49insGGGGAGGGGCAGGGGGGGGGGCAG (n.7833-50_7833-49insGGGGAGGGGCAGGGGGGGGGGCAG) c.1288-50_1288-49insGGGGAGGGGCAGGGGGGGGGGCAG n.7919-50_7919-49insGGGGAGGGGCAGGGGGGGGGGCAG | gnomAD v4 |
19 | g.38502826_38502839del | CA2584901072 | RYR1 | c.7836-54_7836-41del (n.7836-54_7836-41del) c.7833-54_7833-41del (n.7833-54_7833-41del) c.1288-54_1288-41del n.7919-54_7919-41del | gnomAD v4 |
19 | g.38502825G>A | CA882054308 | RYR1 | c.7836-55G>A (n.7836-55G>A) c.7833-55G>A (n.7833-55G>A) c.1288-55G>A n.7919-55G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502825G>C | CA308113024 | RYR1 | c.7836-55G>C (n.7836-55G>C) c.7833-55G>C (n.7833-55G>C) c.1288-55G>C n.7919-55G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502825G= | CA2335054723 | RYR1 | c.7836-55G= (n.7836-55G=) c.7833-55G= (n.7833-55G=) c.1288-55G= n.7919-55G= | |
19 | g.38502825G>T | CA2582145394 | RYR1 | c.7836-55G>T (n.7836-55G>T) c.7833-55G>T (n.7833-55G>T) c.1288-55G>T n.7919-55G>T | gnomAD v3 gnomAD v4 |
19 | g.38502825_38502828delinsGGGC | CA2335054724 | RYR1 | c.7836-55_7836-52delinsGGGC (n.7836-55_7836-52delinsGGGC) c.7833-55_7833-52delinsGGGC (n.7833-55_7833-52delinsGGGC) c.1288-55_1288-52delinsGGGC n.7919-55_7919-52delinsGGGC | |
19 | g.38502826_38502830del | CA2814347346 | RYR1 | c.7836-54_7836-50del (n.7836-54_7836-50del) c.7833-54_7833-50del (n.7833-54_7833-50del) c.1288-54_1288-50del n.7919-54_7919-50del | |
19 | g.38502825_38502834delinsGGGCAGCAGA | CA2335054722 | RYR1 | c.7836-55_7836-46delinsGGGCAGCAGA (n.7836-55_7836-46delinsGGGCAGCAGA) c.7833-55_7833-46delinsGGGCAGCAGA (n.7833-55_7833-46delinsGGGCAGCAGA) c.1288-55_1288-46delinsGGGCAGCAGA n.7919-55_7919-46delinsGGGCAGCAGA | |
19 | g.38502829_38502840del | CA995718822 | RYR1 | c.7836-51_7836-40del (n.7836-51_7836-40del) c.7833-51_7833-40del (n.7833-51_7833-40del) c.1288-51_1288-40del n.7919-51_7919-40del | gnomAD v3 gnomAD v4 |
19 | g.38502826G>A | CA308113029 | RYR1 | c.7836-54G>A (n.7836-54G>A) c.7833-54G>A (n.7833-54G>A) c.1288-54G>A n.7919-54G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502826G>C | CA2584901075 | RYR1 | c.7836-54G>C (n.7836-54G>C) c.7833-54G>C (n.7833-54G>C) c.1288-54G>C n.7919-54G>C | gnomAD v4 |
19 | g.38502826G= | CA2335054725 | RYR1 | c.7836-54G= (n.7836-54G=) c.7833-54G= (n.7833-54G=) c.1288-54G= n.7919-54G= | |
19 | g.38502826G>T | CA2584901074 | RYR1 | c.7836-54G>T (n.7836-54G>T) c.7833-54G>T (n.7833-54G>T) c.1288-54G>T n.7919-54G>T | gnomAD v4 |
19 | g.38502826_38502828del | CA882054313 | RYR1 | c.7836-54_7836-52del (n.7836-54_7836-52del) c.7833-54_7833-52del (n.7833-54_7833-52del) c.1288-54_1288-52del n.7919-54_7919-52del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502826_38502828dup | CA995718845 | RYR1 | c.7836-54_7836-52dup (n.7836-54_7836-52dup) c.7833-54_7833-52dup (n.7833-54_7833-52dup) c.1288-54_1288-52dup n.7919-54_7919-52dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCAGCGGCAG | CA995718841 | RYR1 | c.7836-50_7836-49insGGGCAGCGGCAG (n.7836-50_7836-49insGGGCAGCGGCAG) c.7833-50_7833-49insGGGCAGCGGCAG (n.7833-50_7833-49insGGGCAGCGGCAG) c.1288-50_1288-49insGGGCAGCGGCAG n.7919-50_7919-49insGGGCAGCGGCAG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502826_38502831del | CA2584901073 | RYR1 | c.7836-54_7836-49del (n.7836-54_7836-49del) c.7833-54_7833-49del (n.7833-54_7833-49del) c.1288-54_1288-49del n.7919-54_7919-49del | gnomAD v4 |
19 | g.38502826_38502831dup | CA633066337 | RYR1 | c.7836-54_7836-49dup (n.7836-54_7836-49dup) c.7833-54_7833-49dup (n.7833-54_7833-49dup) c.1288-54_1288-49dup n.7919-54_7919-49dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502827_38502835del | CA995718842 | RYR1 | c.7836-53_7836-45del (n.7836-53_7836-45del) c.7833-53_7833-45del (n.7833-53_7833-45del) c.1288-53_1288-45del n.7919-53_7919-45del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502828_38502838del | CA995718840 | RYR1 | c.7836-52_7836-42del (n.7836-52_7836-42del) c.7833-52_7833-42del (n.7833-52_7833-42del) c.1288-52_1288-42del n.7919-52_7919-42del | gnomAD v3 gnomAD v4 |
19 | g.38502827G>A | CA308113035 | RYR1 | c.7836-53G>A (n.7836-53G>A) c.7833-53G>A (n.7833-53G>A) c.1288-53G>A n.7919-53G>A | dbSNP gnomAD v4 |
19 | g.38502827G>C | CA2584901077 | RYR1 | c.7836-53G>C (n.7836-53G>C) c.7833-53G>C (n.7833-53G>C) c.1288-53G>C n.7919-53G>C | gnomAD v4 |
19 | g.38502827G= | CA2335054727 | RYR1 | c.7836-53G= (n.7836-53G=) c.7833-53G= (n.7833-53G=) c.1288-53G= n.7919-53G= | |
19 | g.38502827G>T | CA2584901076 | RYR1 | c.7836-53G>T (n.7836-53G>T) c.7833-53G>T (n.7833-53G>T) c.1288-53G>T n.7919-53G>T | gnomAD v4 |
19 | g.38502827_38502828insGAG | CA2584901081 | RYR1 | c.7836-53_7836-52insGAG (n.7836-53_7836-52insGAG) c.7833-53_7833-52insGAG (n.7833-53_7833-52insGAG) c.1288-53_1288-52insGAG n.7919-53_7919-52insGAG | gnomAD v4 |
19 | g.38502827_38502828insGAGGAG | CA2584901078 | RYR1 | c.7836-53_7836-52insGAGGAG (n.7836-53_7836-52insGAGGAG) c.7833-53_7833-52insGAGGAG (n.7833-53_7833-52insGAGGAG) c.1288-53_1288-52insGAGGAG n.7919-53_7919-52insGAGGAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGCAGCAG | CA995718847 | RYR1 | c.7836-50_7836-49insGGGCAGCAGCAG (n.7836-50_7836-49insGGGCAGCAGCAG) c.7833-50_7833-49insGGGCAGCAGCAG (n.7833-50_7833-49insGGGCAGCAGCAG) c.1288-50_1288-49insGGGCAGCAGCAG n.7919-50_7919-49insGGGCAGCAGCAG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGAGCAG | CA2584901084 | RYR1 | c.7836-50_7836-49insGGGCAGGAGCAG (n.7836-50_7836-49insGGGCAGGAGCAG) c.7833-50_7833-49insGGGCAGGAGCAG (n.7833-50_7833-49insGGGCAGGAGCAG) c.1288-50_1288-49insGGGCAGGAGCAG n.7919-50_7919-49insGGGCAGGAGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGAGCAG | CA2584901079 | RYR1 | c.7836-50_7836-49insGGGGAGGAGCAG (n.7836-50_7836-49insGGGGAGGAGCAG) c.7833-50_7833-49insGGGGAGGAGCAG (n.7833-50_7833-49insGGGGAGGAGCAG) c.1288-50_1288-49insGGGGAGGAGCAG n.7919-50_7919-49insGGGGAGGAGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGCAGCAG | CA2584901082 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGCAGCAG (n.7836-50_7836-49insGGGCAGGGGCAGCAGCAG) c.7833-50_7833-49insGGGCAGGGGCAGCAGCAG (n.7833-50_7833-49insGGGCAGGGGCAGCAGCAG) c.1288-50_1288-49insGGGCAGGGGCAGCAGCAG n.7919-50_7919-49insGGGCAGGGGCAGCAGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGGAGGAGCAG | CA2584901080 | RYR1 | c.7836-50_7836-49insGGGCAGGGGGAGGAGCAG (n.7836-50_7836-49insGGGCAGGGGGAGGAGCAG) c.7833-50_7833-49insGGGCAGGGGGAGGAGCAG (n.7833-50_7833-49insGGGCAGGGGGAGGAGCAG) c.1288-50_1288-49insGGGCAGGGGGAGGAGCAG n.7919-50_7919-49insGGGCAGGGGGAGGAGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAG | CA2584901083 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAG | gnomAD v4 |
19 | g.38502828_38502833dup | CA2335054726 | RYR1 | c.7836-52_7836-47dup (n.7836-52_7836-47dup) c.7833-52_7833-47dup (n.7833-52_7833-47dup) c.1288-52_1288-47dup n.7919-52_7919-47dup | dbSNP gnomAD v4 |
19 | g.38502831_38502833del | CA995718850 | RYR1 | c.7836-49_7836-47del (n.7836-49_7836-47del) c.7833-49_7833-47del (n.7833-49_7833-47del) c.1288-49_1288-47del n.7919-49_7919-47del | gnomAD v3 gnomAD v4 |
19 | g.38502828C>A | CA2335054730 | RYR1 | c.7836-52C>A (n.7836-52C>A) c.7833-52C>A (n.7833-52C>A) c.1288-52C>A n.7919-52C>A | dbSNP gnomAD v4 |
19 | g.38502828C= | CA2335054729 | RYR1 | c.7836-52C= (n.7836-52C=) c.7833-52C= (n.7833-52C=) c.1288-52C= n.7919-52C= | |
19 | g.38502828C>G | CA308113042 | RYR1 | c.7836-52C>G (n.7836-52C>G) c.7833-52C>G (n.7833-52C>G) c.1288-52C>G n.7919-52C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502828C>T | CA2335054728 | RYR1 | c.7836-52C>T (n.7836-52C>T) c.7833-52C>T (n.7833-52C>T) c.1288-52C>T n.7919-52C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502828_38502829del | CA2582145395 | RYR1 | c.7836-52_7836-51del (n.7836-52_7836-51del) c.7833-52_7833-51del (n.7833-52_7833-51del) c.1288-52_1288-51del n.7919-52_7919-51del | gnomAD v3 gnomAD v4 |
19 | g.38502828_38502832del | CA633066338 | RYR1 | c.7836-52_7836-48del (n.7836-52_7836-48del) c.7833-52_7833-48del (n.7833-52_7833-48del) c.1288-52_1288-48del n.7919-52_7919-48del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502829A= | CA2335054731 | RYR1 | c.7836-51A= (n.7836-51A=) c.7833-51A= (n.7833-51A=) c.1288-51A= n.7919-51A= | |
19 | g.38502829A>C | CA2584901089 | RYR1 | c.7836-51A>C (n.7836-51A>C) c.7833-51A>C (n.7833-51A>C) c.1288-51A>C n.7919-51A>C | dbSNP gnomAD v4 |
19 | g.38502829A>T | CA2519413435 | RYR1 | c.7836-51A>T (n.7836-51A>T) c.7833-51A>T (n.7833-51A>T) c.1288-51A>T n.7919-51A>T | |
19 | g.38502830_38502831insGGGGAG | CA995718869 | RYR1 | c.7836-50_7836-49insGGGGAG (n.7836-50_7836-49insGGGGAG) c.7833-50_7833-49insGGGGAG (n.7833-50_7833-49insGGGGAG) c.1288-50_1288-49insGGGGAG n.7919-50_7919-49insGGGGAG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGTAG | CA2584901088 | RYR1 | c.7836-50_7836-49insGGGTAG (n.7836-50_7836-49insGGGTAG) c.7833-50_7833-49insGGGTAG (n.7833-50_7833-49insGGGTAG) c.1288-50_1288-49insGGGTAG n.7919-50_7919-49insGGGTAG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGAG | CA995718873 | RYR1 | c.7836-50_7836-49insGGGGAGGAG (n.7836-50_7836-49insGGGGAGGAG) c.7833-50_7833-49insGGGGAGGAG (n.7833-50_7833-49insGGGGAGGAG) c.1288-50_1288-49insGGGGAGGAG n.7919-50_7919-49insGGGGAGGAG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGGAG | CA2584901087 | RYR1 | c.7836-50_7836-49insGGGCAGGGGGAG (n.7836-50_7836-49insGGGCAGGGGGAG) c.7833-50_7833-49insGGGCAGGGGGAG (n.7833-50_7833-49insGGGCAGGGGGAG) c.1288-50_1288-49insGGGCAGGGGGAG n.7919-50_7919-49insGGGCAGGGGGAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGGAG | CA2584901086 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGGAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGGAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGGAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGGAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGGAG n.7919-50_7919-49insGGGCAGGGGCAGGGGGAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAG | CA2584901085 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAG n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAG | gnomAD v4 |
19 | g.38502829_38502847delinsAGCAGAGCGGGCCTGGACG | CA2335054732 | RYR1 | c.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG (n.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG) c.7833-51_7833-33delinsAGCAGAGCGGGCCTGGACG (n.7833-51_7833-33delinsAGCAGAGCGGGCCTGGACG) c.1288-51_1288-33delinsAGCAGAGCGGGCCTGGACG n.7919-51_7919-33delinsAGCAGAGCGGGCCTGGACG | |
19 | g.38502830G>A | CA995718879 | RYR1 | c.7836-50G>A (n.7836-50G>A) c.7833-50G>A (n.7833-50G>A) c.1288-50G>A n.7919-50G>A | dbSNP gnomAD v4 |
19 | g.38502830G>C | CA2584901095 | RYR1 | c.7836-50G>C (n.7836-50G>C) c.7833-50G>C (n.7833-50G>C) c.1288-50G>C n.7919-50G>C | gnomAD v4 |
19 | g.38502830G= | CA2335054734 | RYR1 | c.7836-50G= (n.7836-50G=) c.7833-50G= (n.7833-50G=) c.1288-50G= n.7919-50G= | |
19 | g.38502830G>T | CA2584901096 | RYR1 | c.7836-50G>T (n.7836-50G>T) c.7833-50G>T (n.7833-50G>T) c.1288-50G>T n.7919-50G>T | gnomAD v4 |
19 | g.38502830_38502831insGGG | CA633066339 | RYR1 | c.7836-50_7836-49insGGG (n.7836-50_7836-49insGGG) c.7833-50_7833-49insGGG (n.7833-50_7833-49insGGG) c.1288-50_1288-49insGGG n.7919-50_7919-49insGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCCG | CA2735916232 | RYR1 | c.7836-50_7836-49insGGGCCG (n.7836-50_7836-49insGGGCCG) c.7833-50_7833-49insGGGCCG (n.7833-50_7833-49insGGGCCG) c.1288-50_1288-49insGGGCCG n.7919-50_7919-49insGGGCCG | dbSNP |
19 | g.38502830_38502831insGGGGAGG | CA995718904 | RYR1 | c.7836-50_7836-49insGGGGAGG (n.7836-50_7836-49insGGGGAGG) c.7833-50_7833-49insGGGGAGG (n.7833-50_7833-49insGGGGAGG) c.1288-50_1288-49insGGGGAGG n.7919-50_7919-49insGGGGAGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGG | CA995718912 | RYR1 | c.7836-50_7836-49insGGGCAGGGG (n.7836-50_7836-49insGGGCAGGGG) c.7833-50_7833-49insGGGCAGGGG (n.7833-50_7833-49insGGGCAGGGG) c.1288-50_1288-49insGGGCAGGGG n.7919-50_7919-49insGGGCAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGG | CA633066341 | RYR1 | c.7836-50_7836-49insGGGGAGGGG (n.7836-50_7836-49insGGGGAGGGG) c.7833-50_7833-49insGGGGAGGGG (n.7833-50_7833-49insGGGGAGGGG) c.1288-50_1288-49insGGGGAGGGG n.7919-50_7919-49insGGGGAGGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGGGGGGG | CA2584901093 | RYR1 | c.7836-50_7836-49insGGGGGGGGG (n.7836-50_7836-49insGGGGGGGGG) c.7833-50_7833-49insGGGGGGGGG (n.7833-50_7833-49insGGGGGGGGG) c.1288-50_1288-49insGGGGGGGGG n.7919-50_7919-49insGGGGGGGGG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGGAGG | CA2584901090 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGG (n.7836-50_7836-49insGGGGAGGGGGAGG) c.7833-50_7833-49insGGGGAGGGGGAGG (n.7833-50_7833-49insGGGGAGGGGGAGG) c.1288-50_1288-49insGGGGAGGGGGAGG n.7919-50_7919-49insGGGGAGGGGGAGG | gnomAD v4 |
19 | g.38502830_38502831insGGAGAGGAGCAGGGG | CA995718921 | RYR1 | c.7836-50_7836-49insGGAGAGGAGCAGGGG (n.7836-50_7836-49insGGAGAGGAGCAGGGG) c.7833-50_7833-49insGGAGAGGAGCAGGGG (n.7833-50_7833-49insGGAGAGGAGCAGGGG) c.1288-50_1288-49insGGAGAGGAGCAGGGG n.7919-50_7919-49insGGAGAGGAGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGG | CA633066343 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGG (n.7836-50_7836-49insGGGCAGGGGCAGGGG) c.7833-50_7833-49insGGGCAGGGGCAGGGG (n.7833-50_7833-49insGGGCAGGGGCAGGGG) c.1288-50_1288-49insGGGCAGGGGCAGGGG n.7919-50_7919-49insGGGCAGGGGCAGGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGAGCAGGGG | CA2584901097 | RYR1 | c.7836-50_7836-49insGGGGAGGAGCAGGGG (n.7836-50_7836-49insGGGGAGGAGCAGGGG) c.7833-50_7833-49insGGGGAGGAGCAGGGG (n.7833-50_7833-49insGGGGAGGAGCAGGGG) c.1288-50_1288-49insGGGGAGGAGCAGGGG n.7919-50_7919-49insGGGGAGGAGCAGGGG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGCAGGGG | CA2584901099 | RYR1 | c.7836-50_7836-49insGGGGAGGGGCAGGGG (n.7836-50_7836-49insGGGGAGGGGCAGGGG) c.7833-50_7833-49insGGGGAGGGGCAGGGG (n.7833-50_7833-49insGGGGAGGGGCAGGGG) c.1288-50_1288-49insGGGGAGGGGCAGGGG n.7919-50_7919-49insGGGGAGGGGCAGGGG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGGAGGGG | CA2584901091 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGGGG (n.7836-50_7836-49insGGGGAGGGGGAGGGG) c.7833-50_7833-49insGGGGAGGGGGAGGGG (n.7833-50_7833-49insGGGGAGGGGGAGGGG) c.1288-50_1288-49insGGGGAGGGGGAGGGG n.7919-50_7919-49insGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGGAGGGGCAGGGG | CA995718888 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGGGGCAGGGG (n.7836-50_7836-49insGGGGAGGGGGAGGGGCAGGGG) c.7833-50_7833-49insGGGGAGGGGGAGGGGCAGGGG (n.7833-50_7833-49insGGGGAGGGGGAGGGGCAGGGG) c.1288-50_1288-49insGGGGAGGGGGAGGGGCAGGGG n.7919-50_7919-49insGGGGAGGGGGAGGGGCAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGG | CA633066344 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGG) c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGG) c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGG n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGG | CA2584901092 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGG (n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGG) c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGG (n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGG) c.1288-50_1288-49insGGGGAGGGGGAGGGGGAGGGG n.7919-50_7919-49insGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGGAGGGG | CA633066345 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.1288-50_1288-49insGGGGAGGGGGAGGGGGAGGGGGAGGGG n.7919-50_7919-49insGGGGAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA995718910 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA633066340 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v2 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA2535606458 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG | CA2505809630 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG) c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG) c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG | |
19 | g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | CA995718882 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.1288-50_1288-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG n.7919-50_7919-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502830dup | CA2584901098 | RYR1 | c.7836-50dup (n.7836-50dup) c.7833-50dup (n.7833-50dup) c.1288-50dup n.7919-50dup | gnomAD v4 |
19 | g.38502830_38502832delinsGCA | CA2335054733 | RYR1 | c.7836-50_7836-48delinsGCA (n.7836-50_7836-48delinsGCA) c.7833-50_7833-48delinsGCA (n.7833-50_7833-48delinsGCA) c.1288-50_1288-48delinsGCA n.7919-50_7919-48delinsGCA | |
19 | g.38502830_38502836delinsGCAGAGC | CA2335054735 | RYR1 | c.7836-50_7836-44delinsGCAGAGC (n.7836-50_7836-44delinsGCAGAGC) c.7833-50_7833-44delinsGCAGAGC (n.7833-50_7833-44delinsGCAGAGC) c.1288-50_1288-44delinsGCAGAGC n.7919-50_7919-44delinsGCAGAGC | |
19 | g.38502831_38502847del | CA2584901094 | RYR1 | c.7836-49_7836-33del (n.7836-49_7836-33del) c.7833-49_7833-33del (n.7833-49_7833-33del) c.1288-49_1288-33del n.7919-49_7919-33del | gnomAD v4 |
19 | g.38502831_38502848del | CA633066342 | RYR1 | c.7836-49_7836-32del (n.7836-49_7836-32del) c.7833-49_7833-32del (n.7833-49_7833-32del) c.1288-49_1288-32del n.7919-49_7919-32del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502831del | CA633066346 | RYR1 | c.7836-49del (n.7836-49del) c.7833-49del (n.7833-49del) c.1288-49del n.7919-49del | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502831C>A | CA2584901100 | RYR1 | c.7836-49C>A (n.7836-49C>A) c.7833-49C>A (n.7833-49C>A) c.1288-49C>A n.7919-49C>A | gnomAD v4 |
19 | g.38502831C= | CA2335054736 | RYR1 | c.7836-49C= (n.7836-49C=) c.7833-49C= (n.7833-49C=) c.1288-49C= n.7919-49C= | |
19 | g.38502831C>G | CA070714 | RYR1 | c.7836-49C>G (n.7836-49C>G) c.7833-49C>G (n.7833-49C>G) c.1288-49C>G n.7919-49C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502831C>T | CA070720 | RYR1 | c.7836-49C>T (n.7836-49C>T) c.7833-49C>T (n.7833-49C>T) c.1288-49C>T n.7919-49C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502831_38502832del | CA633066347 | RYR1 | c.7836-49_7836-48del (n.7836-49_7836-48del) c.7833-49_7833-48del (n.7833-49_7833-48del) c.1288-49_1288-48del n.7919-49_7919-48del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502831_38502834delinsCAGA | CA2335054737 | RYR1 | c.7836-49_7836-46delinsCAGA (n.7836-49_7836-46delinsCAGA) c.7833-49_7833-46delinsCAGA (n.7833-49_7833-46delinsCAGA) c.1288-49_1288-46delinsCAGA n.7919-49_7919-46delinsCAGA | |
19 | g.38502831_38502836del | CA633066348 | RYR1 | c.7836-49_7836-44del (n.7836-49_7836-44del) c.7833-49_7833-44del (n.7833-49_7833-44del) c.1288-49_1288-44del n.7919-49_7919-44del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502831_38502846del | CA995718931 | RYR1 | c.7836-49_7836-34del (n.7836-49_7836-34del) c.7833-49_7833-34del (n.7833-49_7833-34del) c.1288-49_1288-34del n.7919-49_7919-34del | gnomAD v3 gnomAD v4 |
19 | g.38502832A= | CA2335054738 | RYR1 | c.7836-48A= (n.7836-48A=) c.7833-48A= (n.7833-48A=) c.1288-48A= n.7919-48A= | |
19 | g.38502832A>C | CA633066349 | RYR1 | c.7836-48A>C (n.7836-48A>C) c.7833-48A>C (n.7833-48A>C) c.1288-48A>C n.7919-48A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502832A>G | CA633066350 | RYR1 | c.7836-48A>G (n.7836-48A>G) c.7833-48A>G (n.7833-48A>G) c.1288-48A>G n.7919-48A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502832A>T | CA2584901103 | RYR1 | c.7836-48A>T (n.7836-48A>T) c.7833-48A>T (n.7833-48A>T) c.1288-48A>T n.7919-48A>T | dbSNP gnomAD v4 |
19 | g.38502833_38502834insGGGCAGGGGGAGGAG | CA2540190470 | RYR1 | c.7836-47_7836-46insGGGCAGGGGGAGGAG (n.7836-47_7836-46insGGGCAGGGGGAGGAG) c.7833-47_7833-46insGGGCAGGGGGAGGAG (n.7833-47_7833-46insGGGCAGGGGGAGGAG) c.1288-47_1288-46insGGGCAGGGGGAGGAG n.7919-47_7919-46insGGGCAGGGGGAGGAG | gnomAD v4 |
19 | g.38502833_38502834insGGGCAGGGGCAGGGGGAGGAG | CA2584901102 | RYR1 | c.7836-47_7836-46insGGGCAGGGGCAGGGGGAGGAG (n.7836-47_7836-46insGGGCAGGGGCAGGGGGAGGAG) c.7833-47_7833-46insGGGCAGGGGCAGGGGGAGGAG (n.7833-47_7833-46insGGGCAGGGGCAGGGGGAGGAG) c.1288-47_1288-46insGGGCAGGGGCAGGGGGAGGAG n.7919-47_7919-46insGGGCAGGGGCAGGGGGAGGAG | gnomAD v4 |
19 | g.38502833_38502834insGGGCAGGGGCAGGGGCAGGGGGAGGAG | CA2584901101 | RYR1 | c.7836-47_7836-46insGGGCAGGGGCAGGGGCAGGGGGAGGAG (n.7836-47_7836-46insGGGCAGGGGCAGGGGCAGGGGGAGGAG) c.7833-47_7833-46insGGGCAGGGGCAGGGGCAGGGGGAGGAG (n.7833-47_7833-46insGGGCAGGGGCAGGGGCAGGGGGAGGAG) c.1288-47_1288-46insGGGCAGGGGCAGGGGCAGGGGGAGGAG n.7919-47_7919-46insGGGCAGGGGCAGGGGCAGGGGGAGGAG | gnomAD v4 |
19 | g.38502832_38502834del | CA995718932 | RYR1 | c.7836-48_7836-46del (n.7836-48_7836-46del) c.7833-48_7833-46del (n.7833-48_7833-46del) c.1288-48_1288-46del n.7919-48_7919-46del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502833G>A | CA2335054739 | RYR1 | c.7836-47G>A (n.7836-47G>A) c.7833-47G>A (n.7833-47G>A) c.1288-47G>A n.7919-47G>A | dbSNP gnomAD v4 |
19 | g.38502833G>C | CA2584901104 | RYR1 | c.7836-47G>C (n.7836-47G>C) c.7833-47G>C (n.7833-47G>C) c.1288-47G>C n.7919-47G>C | gnomAD v4 |
19 | g.38502833G= | CA2335054741 | RYR1 | c.7836-47G= (n.7836-47G=) c.7833-47G= (n.7833-47G=) c.1288-47G= n.7919-47G= | |
19 | g.38502833G>T | CA070709 | RYR1 | c.7836-47G>T (n.7836-47G>T) c.7833-47G>T (n.7833-47G>T) c.1288-47G>T n.7919-47G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502833_38502834insGGG | CA995718936 | RYR1 | c.7836-47_7836-46insGGG (n.7836-47_7836-46insGGG) c.7833-47_7833-46insGGG (n.7833-47_7833-46insGGG) c.1288-47_1288-46insGGG n.7919-47_7919-46insGGG | gnomAD v3 gnomAD v4 |
19 | g.38502833_38502834insGGGG | CA995718938 | RYR1 | c.7836-47_7836-46insGGGG (n.7836-47_7836-46insGGGG) c.7833-47_7833-46insGGGG (n.7833-47_7833-46insGGGG) c.1288-47_1288-46insGGGG n.7919-47_7919-46insGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502833_38502834insGGGGAGG | CA995718941 | RYR1 | c.7836-47_7836-46insGGGGAGG (n.7836-47_7836-46insGGGGAGG) c.7833-47_7833-46insGGGGAGG (n.7833-47_7833-46insGGGGAGG) c.1288-47_1288-46insGGGGAGG n.7919-47_7919-46insGGGGAGG | gnomAD v3 gnomAD v4 |
19 | g.38502833_38502834insGGGGAGGGGG | CA2584901105 | RYR1 | c.7836-47_7836-46insGGGGAGGGGG (n.7836-47_7836-46insGGGGAGGGGG) c.7833-47_7833-46insGGGGAGGGGG (n.7833-47_7833-46insGGGGAGGGGG) c.1288-47_1288-46insGGGGAGGGGG n.7919-47_7919-46insGGGGAGGGGG | gnomAD v4 |
19 | g.38502833dup | CA2584901106 | RYR1 | c.7836-47dup (n.7836-47dup) c.7833-47dup (n.7833-47dup) c.1288-47dup n.7919-47dup | gnomAD v4 |
19 | g.38502833_38502836delinsGAGC | CA2335054740 | RYR1 | c.7836-47_7836-44delinsGAGC (n.7836-47_7836-44delinsGAGC) c.7833-47_7833-44delinsGAGC (n.7833-47_7833-44delinsGAGC) c.1288-47_1288-44delinsGAGC n.7919-47_7919-44delinsGAGC | |
19 | g.38502833_38502834insGGGC | CA633066351 | RYR1 | c.7836-47_7836-46insGGGC (n.7836-47_7836-46insGGGC) c.7833-47_7833-46insGGGC (n.7833-47_7833-46insGGGC) c.1288-47_1288-46insGGGC n.7919-47_7919-46insGGGC | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502834A= | CA2335054742 | RYR1 | c.7836-46A= (n.7836-46A=) c.7833-46A= (n.7833-46A=) c.1288-46A= n.7919-46A= | |
19 | g.38502834A>C | CA995718950 | RYR1 | c.7836-46A>C (n.7836-46A>C) c.7833-46A>C (n.7833-46A>C) c.1288-46A>C n.7919-46A>C | gnomAD v3 gnomAD v4 |
19 | g.38502834A>G | CA633066353 | RYR1 | c.7836-46A>G (n.7836-46A>G) c.7833-46A>G (n.7833-46A>G) c.1288-46A>G n.7919-46A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502834_38502836del | CA633066352 | RYR1 | c.7836-46_7836-44del (n.7836-46_7836-44del) c.7833-46_7833-44del (n.7833-46_7833-44del) c.1288-46_1288-44del n.7919-46_7919-44del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502835G>A | CA070702 | RYR1 | c.7836-45G>A (n.7836-45G>A) c.7833-45G>A (n.7833-45G>A) c.1288-45G>A n.7919-45G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502835G= | CA2335054743 | RYR1 | c.7836-45G= (n.7836-45G=) c.7833-45G= (n.7833-45G=) c.1288-45G= n.7919-45G= | |
19 | g.38502835G>T | CA070705 | RYR1 | c.7836-45G>T (n.7836-45G>T) c.7833-45G>T (n.7833-45G>T) c.1288-45G>T n.7919-45G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502836_38502837del | CA2584901107 | RYR1 | c.7836-44_7836-43del (n.7836-44_7836-43del) c.7833-44_7833-43del (n.7833-44_7833-43del) c.1288-44_1288-43del n.7919-44_7919-43del | gnomAD v4 |
19 | g.38502836_38502847del | CA2584901108 | RYR1 | c.7836-44_7836-33del (n.7836-44_7836-33del) c.7833-44_7833-33del (n.7833-44_7833-33del) c.1288-44_1288-33del n.7919-44_7919-33del | gnomAD v4 |
19 | g.38502836del | CA633066354 | RYR1 | c.7836-44del (n.7836-44del) c.7833-44del (n.7833-44del) c.1288-44del n.7919-44del | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502836C>A | CA2582145396 | RYR1 | c.7836-44C>A (n.7836-44C>A) c.7833-44C>A (n.7833-44C>A) c.1288-44C>A n.7919-44C>A | gnomAD v3 gnomAD v4 |
19 | g.38502836C= | CA2335054744 | RYR1 | c.7836-44C= (n.7836-44C=) c.7833-44C= (n.7833-44C=) c.1288-44C= n.7919-44C= | |
19 | g.38502836C>G | CA308113116 | RYR1 | c.7836-44C>G (n.7836-44C>G) c.7833-44C>G (n.7833-44C>G) c.1288-44C>G n.7919-44C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502836C>T | CA082837 | RYR1 | c.7836-44C>T (n.7836-44C>T) c.7833-44C>T (n.7833-44C>T) c.1288-44C>T n.7919-44C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502836_38502837insAG | CA995718965 | RYR1 | c.7836-44_7836-43insAG (n.7836-44_7836-43insAG) c.7833-44_7833-43insAG (n.7833-44_7833-43insAG) c.1288-44_1288-43insAG n.7919-44_7919-43insAG | gnomAD v3 gnomAD v4 |
19 | g.38502837G>A | CA070696 | RYR1 | c.7836-43G>A (n.7836-43G>A) c.7833-43G>A (n.7833-43G>A) c.1288-43G>A n.7919-43G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502837G>C | CA882054357 | RYR1 | c.7836-43G>C (n.7836-43G>C) c.7833-43G>C (n.7833-43G>C) c.1288-43G>C n.7919-43G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502837G= | CA2335054745 | RYR1 | c.7836-43G= (n.7836-43G=) c.7833-43G= (n.7833-43G=) c.1288-43G= n.7919-43G= | |
19 | g.38502837G>T | CA2584901109 | RYR1 | c.7836-43G>T (n.7836-43G>T) c.7833-43G>T (n.7833-43G>T) c.1288-43G>T n.7919-43G>T | gnomAD v4 |
19 | g.38502838G>A | CA070691 | RYR1 | c.7836-42G>A (n.7836-42G>A) c.7833-42G>A (n.7833-42G>A) c.1288-42G>A n.7919-42G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502838G= | CA2335054746 | RYR1 | c.7836-42G= (n.7836-42G=) c.7833-42G= (n.7833-42G=) c.1288-42G= n.7919-42G= | |
19 | g.38502838G>T | CA082835 | RYR1 | c.7836-42G>T (n.7836-42G>T) c.7833-42G>T (n.7833-42G>T) c.1288-42G>T n.7919-42G>T | gnomAD v4 |
19 | g.38502839G>A | CA070685 | RYR1 | c.7836-41G>A (n.7836-41G>A) c.7833-41G>A (n.7833-41G>A) c.1288-41G>A n.7919-41G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502839G= | CA2335054747 | RYR1 | c.7836-41G= (n.7836-41G=) c.7833-41G= (n.7833-41G=) c.1288-41G= n.7919-41G= | |
19 | g.38502839G>T | CA995718980 | RYR1 | c.7836-41G>T (n.7836-41G>T) c.7833-41G>T (n.7833-41G>T) c.1288-41G>T n.7919-41G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502840_38502843del | CA2584901110 | RYR1 | c.7836-40_7836-37del (n.7836-40_7836-37del) c.7833-40_7833-37del (n.7833-40_7833-37del) c.1288-40_1288-37del n.7919-40_7919-37del | gnomAD v4 |
19 | g.38502840C>A | CA2584901111 | RYR1 | c.7836-40C>A (n.7836-40C>A) c.7833-40C>A (n.7833-40C>A) c.1288-40C>A n.7919-40C>A | gnomAD v4 |
19 | g.38502840C= | CA2335054748 | RYR1 | c.7836-40C= (n.7836-40C=) c.7833-40C= (n.7833-40C=) c.1288-40C= n.7919-40C= | |
19 | g.38502840C>G | CA070679 | RYR1 | c.7836-40C>G (n.7836-40C>G) c.7833-40C>G (n.7833-40C>G) c.1288-40C>G n.7919-40C>G | dbSNP ExAC gnomAD v4 |
19 | g.38502840C>T | CA070682 | RYR1 | c.7836-40C>T (n.7836-40C>T) c.7833-40C>T (n.7833-40C>T) c.1288-40C>T n.7919-40C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502840_38502842del | CA2582145397 | RYR1 | c.7836-40_7836-38del (n.7836-40_7836-38del) c.7833-40_7833-38del (n.7833-40_7833-38del) c.1288-40_1288-38del n.7919-40_7919-38del | gnomAD v3 gnomAD v4 |
19 | g.38502841C>A | CA633066355 | RYR1 | c.7836-39C>A (n.7836-39C>A) c.7833-39C>A (n.7833-39C>A) c.1288-39C>A n.7919-39C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502841C= | CA2335054749 | RYR1 | c.7836-39C= (n.7836-39C=) c.7833-39C= (n.7833-39C=) c.1288-39C= n.7919-39C= | |
19 | g.38502841C>G | CA070670 | RYR1 | c.7836-39C>G (n.7836-39C>G) c.7833-39C>G (n.7833-39C>G) c.1288-39C>G n.7919-39C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502841C>T | CA070675 | RYR1 | c.7836-39C>T (n.7836-39C>T) c.7833-39C>T (n.7833-39C>T) c.1288-39C>T n.7919-39C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502841_38502844del | CA995718993 | RYR1 | c.7836-39_7836-36del (n.7836-39_7836-36del) c.7833-39_7833-36del (n.7833-39_7833-36del) c.1288-39_1288-36del n.7919-39_7919-36del | gnomAD v3 gnomAD v4 |
19 | g.38502842T>A | CA2584901112 | RYR1 | c.7836-38T>A (n.7836-38T>A) c.7833-38T>A (n.7833-38T>A) c.1288-38T>A n.7919-38T>A | gnomAD v4 |
19 | g.38502842T>C | CA9415895 | RYR1 | c.7836-38T>C (n.7836-38T>C) c.7833-38T>C (n.7833-38T>C) c.1288-38T>C n.7919-38T>C | dbSNP ExAC gnomAD v4 |
19 | g.38502842T>G | CA633066356 | RYR1 | c.7836-38T>G (n.7836-38T>G) c.7833-38T>G (n.7833-38T>G) c.1288-38T>G n.7919-38T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502842T= | CA2335054751 | RYR1 | c.7836-38T= (n.7836-38T=) c.7833-38T= (n.7833-38T=) c.1288-38T= n.7919-38T= | |
19 | g.38502842_38502843delinsTG | CA2335054750 | RYR1 | c.7836-38_7836-37delinsTG (n.7836-38_7836-37delinsTG) c.7833-38_7833-37delinsTG (n.7833-38_7833-37delinsTG) c.1288-38_1288-37delinsTG n.7919-38_7919-37delinsTG | |
19 | g.38502843G>A | CA070650 | RYR1 | c.7836-37G>A (n.7836-37G>A) c.7833-37G>A (n.7833-37G>A) c.1288-37G>A n.7919-37G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502843G>C | CA070656 | RYR1 | c.7836-37G>C (n.7836-37G>C) c.7833-37G>C (n.7833-37G>C) c.1288-37G>C n.7919-37G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502843G= | CA2335054752 | RYR1 | c.7836-37G= (n.7836-37G=) c.7833-37G= (n.7833-37G=) c.1288-37G= n.7919-37G= | |
19 | g.38502843G>T | CA2584901113 | RYR1 | c.7836-37G>T (n.7836-37G>T) c.7833-37G>T (n.7833-37G>T) c.1288-37G>T n.7919-37G>T | gnomAD v4 |
19 | g.38502844del | CA9415894 | RYR1 | c.7836-36del (n.7836-36del) c.7833-36del (n.7833-36del) c.1288-36del n.7919-36del | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502844G>A | CA633066357 | RYR1 | c.7836-36G>A (n.7836-36G>A) c.7833-36G>A (n.7833-36G>A) c.1288-36G>A n.7919-36G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502844G= | CA2335054753 | RYR1 | c.7836-36G= (n.7836-36G=) c.7833-36G= (n.7833-36G=) c.1288-36G= n.7919-36G= | |
19 | g.38502844G>T | CA082820 | RYR1 | c.7836-36G>T (n.7836-36G>T) c.7833-36G>T (n.7833-36G>T) c.1288-36G>T n.7919-36G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502845A= | CA2335054754 | RYR1 | c.7836-35A= (n.7836-35A=) c.7833-35A= (n.7833-35A=) c.1288-35A= n.7919-35A= | |
19 | g.38502845A>C | CA2335054755 | RYR1 | c.7836-35A>C (n.7836-35A>C) c.7833-35A>C (n.7833-35A>C) c.1288-35A>C n.7919-35A>C | dbSNP |
19 | g.38502845A>G | CA633066358 | RYR1 | c.7836-35A>G (n.7836-35A>G) c.7833-35A>G (n.7833-35A>G) c.1288-35A>G n.7919-35A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502845_38502846delinsCG | CA082814 | RYR1 | c.7836-35_7836-34delinsCG (n.7836-35_7836-34delinsCG) c.7833-35_7833-34delinsCG (n.7833-35_7833-34delinsCG) c.1288-35_1288-34delinsCG n.7919-35_7919-34delinsCG | |
19 | g.38502846del | CA995719010 | RYR1 | c.7836-34del (n.7836-34del) c.7833-34del (n.7833-34del) c.1288-34del n.7919-34del | gnomAD v3 gnomAD v4 |
19 | g.38502846C>A | CA2584901114 | RYR1 | c.7836-34C>A (n.7836-34C>A) c.7833-34C>A (n.7833-34C>A) c.1288-34C>A n.7919-34C>A | gnomAD v4 |
19 | g.38502846C= | CA2335054756 | RYR1 | c.7836-34C= (n.7836-34C=) c.7833-34C= (n.7833-34C=) c.1288-34C= n.7919-34C= | |
19 | g.38502846C>G | CA070641 | RYR1 | c.7836-34C>G (n.7836-34C>G) c.7833-34C>G (n.7833-34C>G) c.1288-34C>G n.7919-34C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502846C>T | CA070642 | RYR1 | c.7836-34C>T (n.7836-34C>T) c.7833-34C>T (n.7833-34C>T) c.1288-34C>T n.7919-34C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502846_38502847delinsCG | CA2335054757 | RYR1 | c.7836-34_7836-33delinsCG (n.7836-34_7836-33delinsCG) c.7833-34_7833-33delinsCG (n.7833-34_7833-33delinsCG) c.1288-34_1288-33delinsCG n.7919-34_7919-33delinsCG | |
19 | g.38502847G>A | CA633066359 | RYR1 | c.7836-33G>A (n.7836-33G>A) c.7833-33G>A (n.7833-33G>A) c.1288-33G>A n.7919-33G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502847G>C | CA633066360 | RYR1 | c.7836-33G>C (n.7836-33G>C) c.7833-33G>C (n.7833-33G>C) c.1288-33G>C n.7919-33G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502847G= | CA2335054758 | RYR1 | c.7836-33G= (n.7836-33G=) c.7833-33G= (n.7833-33G=) c.1288-33G= n.7919-33G= | |
19 | g.38502847G>T | CA082810 | RYR1 | c.7836-33G>T (n.7836-33G>T) c.7833-33G>T (n.7833-33G>T) c.1288-33G>T n.7919-33G>T | gnomAD v3 gnomAD v4 |
19 | g.38502851del | CA2335054759 | RYR1 | c.7836-29del (n.7836-29del) c.7833-29del (n.7833-29del) c.1288-29del n.7919-29del | dbSNP |
19 | g.38502848G>A | CA2584901115 | RYR1 | c.7836-32G>A (n.7836-32G>A) c.7833-32G>A (n.7833-32G>A) c.1288-32G>A n.7919-32G>A | gnomAD v4 |
19 | g.38502848G>T | CA2584901116 | RYR1 | c.7836-32G>T (n.7836-32G>T) c.7833-32G>T (n.7833-32G>T) c.1288-32G>T n.7919-32G>T | gnomAD v4 |
19 | g.38502849G>A | CA070640 | RYR1 | c.7836-31G>A (n.7836-31G>A) c.7833-31G>A (n.7833-31G>A) c.1288-31G>A n.7919-31G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502849G>C | CA308113188 | RYR1 | c.7836-31G>C (n.7836-31G>C) c.7833-31G>C (n.7833-31G>C) c.1288-31G>C n.7919-31G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502849G= | CA2335054760 | RYR1 | c.7836-31G= (n.7836-31G=) c.7833-31G= (n.7833-31G=) c.1288-31G= n.7919-31G= | |
19 | g.38502849G>T | CA2584901117 | RYR1 | c.7836-31G>T (n.7836-31G>T) c.7833-31G>T (n.7833-31G>T) c.1288-31G>T n.7919-31G>T | gnomAD v4 |
19 | g.38502850G>A | CA070634 | RYR1 | c.7836-30G>A (n.7836-30G>A) c.7833-30G>A (n.7833-30G>A) c.1288-30G>A n.7919-30G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502850G>C | CA2584901118 | RYR1 | c.7836-30G>C (n.7836-30G>C) c.7833-30G>C (n.7833-30G>C) c.1288-30G>C n.7919-30G>C | gnomAD v4 |
19 | g.38502850G= | CA2335054761 | RYR1 | c.7836-30G= (n.7836-30G=) c.7833-30G= (n.7833-30G=) c.1288-30G= n.7919-30G= | |
19 | g.38502850G>T | CA633066361 | RYR1 | c.7836-30G>T (n.7836-30G>T) c.7833-30G>T (n.7833-30G>T) c.1288-30G>T n.7919-30G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502851G>A | CA9415899 | RYR1 | c.7836-29G>A (n.7836-29G>A) c.7833-29G>A (n.7833-29G>A) c.1288-29G>A n.7919-29G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502851G>C | CA9415898 | RYR1 | c.7836-29G>C (n.7836-29G>C) c.7833-29G>C (n.7833-29G>C) c.1288-29G>C n.7919-29G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502851G= | CA2335054762 | RYR1 | c.7836-29G= (n.7836-29G=) c.7833-29G= (n.7833-29G=) c.1288-29G= n.7919-29G= | |
19 | g.38502851G>T | CA9415900 | RYR1 | c.7836-29G>T (n.7836-29G>T) c.7833-29G>T (n.7833-29G>T) c.1288-29G>T n.7919-29G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502851_38502852delinsGA | CA2335054763 | RYR1 | c.7836-29_7836-28delinsGA (n.7836-29_7836-28delinsGA) c.7833-29_7833-28delinsGA (n.7833-29_7833-28delinsGA) c.1288-29_1288-28delinsGA n.7919-29_7919-28delinsGA | |
19 | g.38502852del | CA9415897 | RYR1 | c.7836-28del (n.7836-28del) c.7833-28del (n.7833-28del) c.1288-28del n.7919-28del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502852A= | CA2335054764 | RYR1 | c.7836-28A= (n.7836-28A=) c.7833-28A= (n.7833-28A=) c.1288-28A= n.7919-28A= | |
19 | g.38502852A>C | CA882054398 | RYR1 | c.7836-28A>C (n.7836-28A>C) c.7833-28A>C (n.7833-28A>C) c.1288-28A>C n.7919-28A>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502852A>G | CA995719078 | RYR1 | c.7836-28A>G (n.7836-28A>G) c.7833-28A>G (n.7833-28A>G) c.1288-28A>G n.7919-28A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502852A>T | CA070614 | RYR1 | c.7836-28A>T (n.7836-28A>T) c.7833-28A>T (n.7833-28A>T) c.1288-28A>T n.7919-28A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502852dup | CA9415896 | RYR1 | c.7836-28dup (n.7836-28dup) c.7833-28dup (n.7833-28dup) c.1288-28dup n.7919-28dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502853T>C | CA995719088 | RYR1 | c.7836-27T>C (n.7836-27T>C) c.7833-27T>C (n.7833-27T>C) c.1288-27T>C n.7919-27T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502853T>G | CA633066362 | RYR1 | c.7836-27T>G (n.7836-27T>G) c.7833-27T>G (n.7833-27T>G) c.1288-27T>G n.7919-27T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502853T= | CA2335054765 | RYR1 | c.7836-27T= (n.7836-27T=) c.7833-27T= (n.7833-27T=) c.1288-27T= n.7919-27T= | |
19 | g.38502854T>A | CA070607 | RYR1 | c.7836-26T>A (n.7836-26T>A) c.7833-26T>A (n.7833-26T>A) c.1288-26T>A n.7919-26T>A | dbSNP ExAC gnomAD v4 |
19 | g.38502854T>C | CA070610 | RYR1 | c.7836-26T>C (n.7836-26T>C) c.7833-26T>C (n.7833-26T>C) c.1288-26T>C n.7919-26T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502854T>G | CA995719093 | RYR1 | c.7836-26T>G (n.7836-26T>G) c.7833-26T>G (n.7833-26T>G) c.1288-26T>G n.7919-26T>G | gnomAD v3 gnomAD v4 |
19 | g.38502854T= | CA2335054766 | RYR1 | c.7836-26T= (n.7836-26T=) c.7833-26T= (n.7833-26T=) c.1288-26T= n.7919-26T= | |
19 | g.38502854_38502855delinsAA | CA082795 | RYR1 | c.7836-26_7836-25delinsAA (n.7836-26_7836-25delinsAA) c.7833-26_7833-25delinsAA (n.7833-26_7833-25delinsAA) c.1288-26_1288-25delinsAA n.7919-26_7919-25delinsAA | |
19 | g.38502854_38502855insG | CA2335054767 | RYR1 | c.7836-26_7836-25insG (n.7836-26_7836-25insG) c.7833-26_7833-25insG (n.7833-26_7833-25insG) c.1288-26_1288-25insG n.7919-26_7919-25insG | dbSNP |
19 | g.38502855C= | CA2335054768 | RYR1 | c.7836-25C= (n.7836-25C=) c.7833-25C= (n.7833-25C=) c.1288-25C= n.7919-25C= | |
19 | g.38502855C>G | CA070598 | RYR1 | c.7836-25C>G (n.7836-25C>G) c.7833-25C>G (n.7833-25C>G) c.1288-25C>G n.7919-25C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502855C>T | CA082793 | RYR1 | c.7836-25C>T (n.7836-25C>T) c.7833-25C>T (n.7833-25C>T) c.1288-25C>T n.7919-25C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502856T>A | CA2584901119 | RYR1 | c.7836-24T>A (n.7836-24T>A) c.7833-24T>A (n.7833-24T>A) c.1288-24T>A n.7919-24T>A | gnomAD v4 |
19 | g.38502856T>C | CA633066363 | RYR1 | c.7836-24T>C (n.7836-24T>C) c.7833-24T>C (n.7833-24T>C) c.1288-24T>C n.7919-24T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502856T= | CA2335054769 | RYR1 | c.7836-24T= (n.7836-24T=) c.7833-24T= (n.7833-24T=) c.1288-24T= n.7919-24T= | |
19 | g.38502857A= | CA2335054770 | RYR1 | c.7836-23A= (n.7836-23A=) c.7833-23A= (n.7833-23A=) c.1288-23A= n.7919-23A= | |
19 | g.38502857A>C | CA995719104 | RYR1 | c.7836-23A>C (n.7836-23A>C) c.7833-23A>C (n.7833-23A>C) c.1288-23A>C n.7919-23A>C | gnomAD v3 gnomAD v4 |
19 | g.38502857A>G | CA070597 | RYR1 | c.7836-23A>G (n.7836-23A>G) c.7833-23A>G (n.7833-23A>G) c.1288-23A>G n.7919-23A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502857A>T | CA2518344338 | RYR1 | c.7836-23A>T (n.7836-23A>T) c.7833-23A>T (n.7833-23A>T) c.1288-23A>T n.7919-23A>T | |
19 | g.38502858C>A | CA633066364 | RYR1 | c.7836-22C>A (n.7836-22C>A) c.7833-22C>A (n.7833-22C>A) c.1288-22C>A n.7919-22C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502858C= | CA2335054771 | RYR1 | c.7836-22C= (n.7836-22C=) c.7833-22C= (n.7833-22C=) c.1288-22C= n.7919-22C= | |
19 | g.38502858C>G | CA082788 | RYR1 | c.7836-22C>G (n.7836-22C>G) c.7833-22C>G (n.7833-22C>G) c.1288-22C>G n.7919-22C>G | |
19 | g.38502858C>T | CA070591 | RYR1 | c.7836-22C>T (n.7836-22C>T) c.7833-22C>T (n.7833-22C>T) c.1288-22C>T n.7919-22C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502859A= | CA2335054772 | RYR1 | c.7836-21A= (n.7836-21A=) c.7833-21A= (n.7833-21A=) c.1288-21A= n.7919-21A= | |
19 | g.38502859A>C | CA070586 | RYR1 | c.7836-21A>C (n.7836-21A>C) c.7833-21A>C (n.7833-21A>C) c.1288-21A>C n.7919-21A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502859A>G | CA2335054773 | RYR1 | c.7836-21A>G (n.7836-21A>G) c.7833-21A>G (n.7833-21A>G) c.1288-21A>G n.7919-21A>G | dbSNP gnomAD v4 |
19 | g.38502859dup | CA9415901 | RYR1 | c.7836-21dup (n.7836-21dup) c.7833-21dup (n.7833-21dup) c.1288-21dup n.7919-21dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502860T>A | CA633066365 | RYR1 | c.7836-20T>A (n.7836-20T>A) c.7833-20T>A (n.7833-20T>A) c.1288-20T>A n.7919-20T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502860T>G | CA995719110 | RYR1 | c.7836-20T>G (n.7836-20T>G) c.7833-20T>G (n.7833-20T>G) c.1288-20T>G n.7919-20T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502860T= | CA2335054774 | RYR1 | c.7836-20T= (n.7836-20T=) c.7833-20T= (n.7833-20T=) c.1288-20T= n.7919-20T= | |
19 | g.38502861C>A | CA633066366 | RYR1 | c.7836-19C>A (n.7836-19C>A) c.7833-19C>A (n.7833-19C>A) c.1288-19C>A n.7919-19C>A | ClinVar dbSNP gnomAD v2 |
19 | g.38502861C= | CA2335054775 | RYR1 | c.7836-19C= (n.7836-19C=) c.7833-19C= (n.7833-19C=) c.1288-19C= n.7919-19C= | |
19 | g.38502861C>G | CA658799200 | RYR1 | c.7836-19C>G (n.7836-19C>G) c.7833-19C>G (n.7833-19C>G) c.1288-19C>G n.7919-19C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502861C>T | CA070582 | RYR1 | c.7836-19C>T (n.7836-19C>T) c.7833-19C>T (n.7833-19C>T) c.1288-19C>T n.7919-19C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502862T>G | CA070579 | RYR1 | c.7836-18T>G (n.7836-18T>G) c.7833-18T>G (n.7833-18T>G) c.1288-18T>G n.7919-18T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502862T= | CA2335054776 | RYR1 | c.7836-18T= (n.7836-18T=) c.7833-18T= (n.7833-18T=) c.1288-18T= n.7919-18T= | |
19 | g.38502863T>A | CA633066367 | RYR1 | c.7836-17T>A (n.7836-17T>A) c.7833-17T>A (n.7833-17T>A) c.1288-17T>A n.7919-17T>A | dbSNP gnomAD v2 |
19 | g.38502863T>C | CA070575 | RYR1 | c.7836-17T>C (n.7836-17T>C) c.7833-17T>C (n.7833-17T>C) c.1288-17T>C n.7919-17T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502863T>G | CA633066368 | RYR1 | c.7836-17T>G (n.7836-17T>G) c.7833-17T>G (n.7833-17T>G) c.1288-17T>G n.7919-17T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502863T= | CA2335054777 | RYR1 | c.7836-17T= (n.7836-17T=) c.7833-17T= (n.7833-17T=) c.1288-17T= n.7919-17T= | |
19 | g.38502864G>A | CA070572 | RYR1 | c.7836-16G>A (n.7836-16G>A) c.7833-16G>A (n.7833-16G>A) c.1288-16G>A n.7919-16G>A | dbSNP ExAC gnomAD v2 |
19 | g.38502864G>C | CA2584901120 | RYR1 | c.7836-16G>C (n.7836-16G>C) c.7833-16G>C (n.7833-16G>C) c.1288-16G>C n.7919-16G>C | gnomAD v4 |
19 | g.38502864G= | CA2335054778 | RYR1 | c.7836-16G= (n.7836-16G=) c.7833-16G= (n.7833-16G=) c.1288-16G= n.7919-16G= | |
19 | g.38502864G>T | CA2576771137 | RYR1 | c.7836-16G>T (n.7836-16G>T) c.7833-16G>T (n.7833-16G>T) c.1288-16G>T n.7919-16G>T | |
19 | g.38502865T>A | CA2584901121 | RYR1 | c.7836-15T>A (n.7836-15T>A) c.7833-15T>A (n.7833-15T>A) c.1288-15T>A n.7919-15T>A | gnomAD v4 |
19 | g.38502865T>C | CA2576771138 | RYR1 | c.7836-15T>C (n.7836-15T>C) c.7833-15T>C (n.7833-15T>C) c.1288-15T>C n.7919-15T>C | ClinVar gnomAD v4 |
19 | g.38502865T>G | CA082780 | RYR1 | c.7836-15T>G (n.7836-15T>G) c.7833-15T>G (n.7833-15T>G) c.1288-15T>G n.7919-15T>G | dbSNP gnomAD v4 |
19 | g.38502865T= | CA2335054779 | RYR1 | c.7836-15T= (n.7836-15T=) c.7833-15T= (n.7833-15T=) c.1288-15T= n.7919-15T= | |
19 | g.38502866G>A | CA882054462 | RYR1 | c.7836-14G>A (n.7836-14G>A) c.7833-14G>A (n.7833-14G>A) c.1288-14G>A n.7919-14G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38502866G= | CA2335054780 | RYR1 | c.7836-14G= (n.7836-14G=) c.7833-14G= (n.7833-14G=) c.1288-14G= n.7919-14G= | |
19 | g.38502866G>T | CA308113278 | RYR1 | c.7836-14G>T (n.7836-14G>T) c.7833-14G>T (n.7833-14G>T) c.1288-14G>T n.7919-14G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502867C>A | CA308113279 | RYR1 | c.7836-13C>A (n.7836-13C>A) c.7833-13C>A (n.7833-13C>A) c.1288-13C>A n.7919-13C>A | ClinVar dbSNP |
19 | g.38502867C= | CA2335054781 | RYR1 | c.7836-13C= (n.7836-13C=) c.7833-13C= (n.7833-13C=) c.1288-13C= n.7919-13C= | |
19 | g.38502867C>G | CA10587320 | RYR1 | c.7836-13C>G (n.7836-13C>G) c.7833-13C>G (n.7833-13C>G) c.1288-13C>G n.7919-13C>G | ClinVar dbSNP gnomAD v4 |
19 | g.38502867C>T | CA070567 | RYR1 | c.7836-13C>T (n.7836-13C>T) c.7833-13C>T (n.7833-13C>T) c.1288-13C>T n.7919-13C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502868A= | CA2335054782 | RYR1 | c.7836-12A= (n.7836-12A=) c.7833-12A= (n.7833-12A=) c.1288-12A= n.7919-12A= | |
19 | g.38502868A>C | CA2584901122 | RYR1 | c.7836-12A>C (n.7836-12A>C) c.7833-12A>C (n.7833-12A>C) c.1288-12A>C n.7919-12A>C | gnomAD v4 |
19 | g.38502868A>G | CA308113289 | RYR1 | c.7836-12A>G (n.7836-12A>G) c.7833-12A>G (n.7833-12A>G) c.1288-12A>G n.7919-12A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502869T>C | CA070563 | RYR1 | c.7836-11T>C (n.7836-11T>C) c.7833-11T>C (n.7833-11T>C) c.1288-11T>C n.7919-11T>C | dbSNP ExAC gnomAD v4 |
19 | g.38502869T>G | CA2580097217 | RYR1 | c.7836-11T>G (n.7836-11T>G) c.7833-11T>G (n.7833-11T>G) c.1288-11T>G n.7919-11T>G | ClinVar |
19 | g.38502869T= | CA2335054783 | RYR1 | c.7836-11T= (n.7836-11T=) c.7833-11T= (n.7833-11T=) c.1288-11T= n.7919-11T= | |
19 | g.38502870T>C | CA2584901123 | RYR1 | c.7836-10T>C (n.7836-10T>C) c.7833-10T>C (n.7833-10T>C) c.1288-10T>C n.7919-10T>C | ClinVar gnomAD v4 |
19 | g.38502870T>G | CA633066369 | RYR1 | c.7836-10T>G (n.7836-10T>G) c.7833-10T>G (n.7833-10T>G) c.1288-10T>G n.7919-10T>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502870T= | CA2335054784 | RYR1 | c.7836-10T= (n.7836-10T=) c.7833-10T= (n.7833-10T=) c.1288-10T= n.7919-10T= | |
19 | g.38502871G>A | CA633066370 | RYR1 | c.7836-9G>A (n.7836-9G>A) c.7833-9G>A (n.7833-9G>A) c.1288-9G>A n.7919-9G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502871G= | CA2335054785 | RYR1 | c.7836-9G= (n.7836-9G=) c.7833-9G= (n.7833-9G=) c.1288-9G= n.7919-9G= | |
19 | g.38502871G>T | CA2335054786 | RYR1 | c.7836-9G>T (n.7836-9G>T) c.7833-9G>T (n.7833-9G>T) c.1288-9G>T n.7919-9G>T | dbSNP gnomAD v4 |
19 | g.38502872T>A | CA2584901124 | RYR1 | c.7836-8T>A (n.7836-8T>A) c.7833-8T>A (n.7833-8T>A) c.1288-8T>A n.7919-8T>A | gnomAD v4 |
19 | g.38502872T>C | CA070784 | RYR1 | c.7836-8T>C (n.7836-8T>C) c.7833-8T>C (n.7833-8T>C) c.1288-8T>C n.7919-8T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502872T= | CA2335054787 | RYR1 | c.7836-8T= (n.7836-8T=) c.7833-8T= (n.7833-8T=) c.1288-8T= n.7919-8T= | |
19 | g.38502873C= | CA2335054788 | RYR1 | c.7836-7C= (n.7836-7C=) c.7833-7C= (n.7833-7C=) c.1288-7C= n.7919-7C= | |
19 | g.38502873C>G | CA2814347365 | RYR1 | c.7836-7C>G (n.7836-7C>G) c.7833-7C>G (n.7833-7C>G) c.1288-7C>G n.7919-7C>G | |
19 | g.38502873C>T | CA070780 | RYR1 | c.7836-7C>T (n.7836-7C>T) c.7833-7C>T (n.7833-7C>T) c.1288-7C>T n.7919-7C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502874C= | CA2335054789 | RYR1 | c.7836-6C= (n.7836-6C=) c.7833-6C= (n.7833-6C=) c.1288-6C= n.7919-6C= | |
19 | g.38502874C>G | CA308113304 | RYR1 | c.7836-6C>G (n.7836-6C>G) c.7833-6C>G (n.7833-6C>G) c.1288-6C>G n.7919-6C>G | dbSNP gnomAD v4 |
19 | g.38502874C>T | CA070758 | RYR1 | c.7836-6C>T (n.7836-6C>T) c.7833-6C>T (n.7833-6C>T) c.1288-6C>T n.7919-6C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502875C>A | CA2499225471 | RYR1 | c.7836-5C>A (n.7836-5C>A) c.7833-5C>A (n.7833-5C>A) c.1288-5C>A n.7919-5C>A | ClinVar dbSNP gnomAD v4 |
19 | g.38502875C= | CA2335054790 | RYR1 | c.7836-5C= (n.7836-5C=) c.7833-5C= (n.7833-5C=) c.1288-5C= n.7919-5C= | |
19 | g.38502875C>G | CA633066371 | RYR1 | c.7836-5C>G (n.7836-5C>G) c.7833-5C>G (n.7833-5C>G) c.1288-5C>G n.7919-5C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502875C>T | CA633066372 | RYR1 | c.7836-5C>T (n.7836-5C>T) c.7833-5C>T (n.7833-5C>T) c.1288-5C>T n.7919-5C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502876G>A | CA070721 | RYR1 | c.7836-4G>A (n.7836-4G>A) c.7833-4G>A (n.7833-4G>A) c.1288-4G>A n.7919-4G>A | ClinVar dbSNP ExAC gnomAD v4 |
19 | g.38502876G>C | CA2584901125 | RYR1 | c.7836-4G>C (n.7836-4G>C) c.7833-4G>C (n.7833-4G>C) c.1288-4G>C n.7919-4G>C | gnomAD v4 |
19 | g.38502876G= | CA2335054791 | RYR1 | c.7836-4G= (n.7836-4G=) c.7833-4G= (n.7833-4G=) c.1288-4G= n.7919-4G= | |
19 | g.38502876G>T | CA645612040 | RYR1 | c.7836-4G>T (n.7836-4G>T) c.7833-4G>T (n.7833-4G>T) c.1288-4G>T n.7919-4G>T | gnomAD v4 COSMIC |
19 | g.38502877C>A | CA2576771139 | RYR1 | c.7836-3C>A (n.7836-3C>A) c.7833-3C>A (n.7833-3C>A) c.1288-3C>A n.7919-3C>A | |
19 | g.38502877C= | CA2335054792 | RYR1 | c.7836-3C= (n.7836-3C=) c.7833-3C= (n.7833-3C=) c.1288-3C= n.7919-3C= | |
19 | g.38502877C>G | CA2580097218 | RYR1 | c.7836-3C>G (n.7836-3C>G) c.7833-3C>G (n.7833-3C>G) c.1288-3C>G n.7919-3C>G | ClinVar gnomAD v4 |
19 | g.38502877C>T | CA082854 | RYR1 | c.7836-3C>T (n.7836-3C>T) c.7833-3C>T (n.7833-3C>T) c.1288-3C>T n.7919-3C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502878A= | CA2335054793 | RYR1 | c.7836-2A= (n.7836-2A=) c.7833-2A= (n.7833-2A=) c.1288-2A= n.7919-2A= | |
19 | g.38502878A>C | CA405673458 | RYR1 | c.7836-2A>C (n.7836-2A>C) c.7833-2A>C (n.7833-2A>C) c.1288-2A>C n.7919-2A>C | gnomAD v4 |
19 | g.38502878A>G | CA405673469 | RYR1 | c.7836-2A>G (n.7836-2A>G) c.7833-2A>G (n.7833-2A>G) c.1288-2A>G n.7919-2A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502878A>T | CA405673472 | RYR1 | c.7836-2A>T (n.7836-2A>T) c.7833-2A>T (n.7833-2A>T) c.1288-2A>T n.7919-2A>T | |
19 | g.38502879G>A | CA082842 | RYR1 | c.7836-1G>A (n.7836-1G>A) c.7833-1G>A (n.7833-1G>A) c.1288-1G>A n.7919-1G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38502879G>C | CA405673477 | RYR1 | c.7836-1G>C (n.7836-1G>C) c.7833-1G>C (n.7833-1G>C) c.1288-1G>C n.7919-1G>C | |
19 | g.38502879G= | CA2335054794 | RYR1 | c.7836-1G= (n.7836-1G=) c.7833-1G= (n.7833-1G=) c.1288-1G= n.7919-1G= | |
19 | g.38502879G>T | CA405673480 | RYR1 | c.7836-1G>T (n.7836-1G>T) c.7833-1G>T (n.7833-1G>T) c.1288-1G>T n.7919-1G>T | gnomAD v4 COSMIC |
19 | g.38502880G>A | CA024866 | RYR1 | c.7836G>A (p.Arg2612=) c.7833G>A (p.Arg2611=) c.1288G>A n.7919G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502880G>C | CA405673484 | RYR1 | c.7836G>C (p.Arg2612Ser) c.7833G>C (p.Arg2611Ser) c.1288G>C n.7919G>C | |
19 | g.38502880G= | CA2335054795 | RYR1 | c.7836G= (p.Arg2612=) c.7833G= (p.Arg2611=) c.1288G= n.7919G= | |
19 | g.38502880G>T | CA070796 | RYR1 | c.7836G>T (p.Arg2612Ser) c.7833G>T (p.Arg2611Ser) c.1288G>T n.7919G>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.38502881T>A | CA405673497 | RYR1 | c.7837T>A (p.Tyr2613Asn) c.7834T>A (p.Tyr2612Asn) c.1289T>A n.7920T>A | gnomAD v4 |
19 | g.38502881T>C | CA405673493 | RYR1 | c.7837T>C (p.Tyr2613His) c.7834T>C (p.Tyr2612His) c.1289T>C n.7920T>C | gnomAD v4 |
19 | g.38502881T>G | CA405673491 | RYR1 | c.7837T>G (p.Tyr2613Asp) c.7834T>G (p.Tyr2612Asp) c.1289T>G n.7920T>G | dbSNP |
19 | g.38502882A= | CA2335054796 | RYR1 | c.7838A= (p.Tyr2613=) c.7835A= (p.Tyr2612=) c.1290A= n.7921A= | |
19 | g.38502882A>C | CA070800 | RYR1 | c.7838A>C (p.Tyr2613Ser) c.7835A>C (p.Tyr2612Ser) c.1290A>C n.7921A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502882A>G | CA405673509 | RYR1 | c.7838A>G (p.Tyr2613Cys) c.7835A>G (p.Tyr2612Cys) c.1290A>G n.7921A>G | dbSNP COSMIC |
19 | g.38502882A>T | CA405673511 | RYR1 | c.7838A>T (p.Tyr2613Phe) c.7835A>T (p.Tyr2612Phe) c.1290A>T n.7921A>T | |
19 | g.38502883C>A | CA405673513 | RYR1 | c.7839C>A (p.Tyr2613Ter) c.7836C>A (p.Tyr2612Ter) c.1291C>A n.7922C>A | dbSNP |
19 | g.38502883C= | CA2335054797 | RYR1 | c.7839C= (p.Tyr2613=) c.7836C= (p.Tyr2612=) c.1291C= n.7922C= | |
19 | g.38502883C>G | CA405673515 | RYR1 | c.7839C>G (p.Tyr2613Ter) c.7836C>G (p.Tyr2612Ter) c.1291C>G n.7922C>G | |
19 | g.38502883C>T | CA070806 | RYR1 | c.7839C>T (p.Tyr2613=) c.7836C>T (p.Tyr2612=) c.1291C>T n.7922C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502884A= | CA2335054798 | RYR1 | c.7840A= (p.Ile2614=) c.7837A= (p.Ile2613=) c.1292A= n.7923A= | |
19 | g.38502884A>C | CA405673518 | RYR1 | c.7840A>C (p.Ile2614Leu) c.7837A>C (p.Ile2613Leu) c.1292A>C n.7923A>C | |
19 | g.38502884A>G | CA405673521 | RYR1 | c.7840A>G (p.Ile2614Val) c.7837A>G (p.Ile2613Val) c.1292A>G n.7923A>G | dbSNP |
19 | g.38502884A>T | CA405673523 | RYR1 | c.7840A>T (p.Ile2614Phe) c.7837A>T (p.Ile2613Phe) c.1292A>T n.7923A>T | |
19 | g.38502884_38502885insGGGGC | CA082719 | RYR1 | c.7840_7841insGGGGC (p.Ile2614ArgfsTer?) c.7837_7838insGGGGC (p.Ile2613ArgfsTer?) c.1292_1293insGGGGC n.7923_7924insGGGGC | |
19 | g.38502885T>A | CA405673525 | RYR1 | c.7841T>A (p.Ile2614Asn) c.7838T>A (p.Ile2613Asn) c.1293T>A n.7924T>A | ClinVar dbSNP gnomAD v4 |
19 | g.38502885T>C | CA405673527 | RYR1 | c.7841T>C (p.Ile2614Thr) c.7838T>C (p.Ile2613Thr) c.1293T>C n.7924T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502885T>G | CA405673529 | RYR1 | c.7841T>G (p.Ile2614Ser) c.7838T>G (p.Ile2613Ser) c.1293T>G n.7924T>G | gnomAD v4 |
19 | g.38502885T= | CA2335054799 | RYR1 | c.7841T= (p.Ile2614=) c.7838T= (p.Ile2613=) c.1293T= n.7924T= | |
19 | g.38502886C>A | CA507354024 | RYR1 | c.7842C>A (p.Ile2614=) c.7839C>A (p.Ile2613=) c.1294C>A n.7925C>A | |
19 | g.38502886C= | CA2335054800 | RYR1 | c.7842C= (p.Ile2614=) c.7839C= (p.Ile2613=) c.1294C= n.7925C= | |
19 | g.38502886C>G | CA405673531 | RYR1 | c.7842C>G (p.Ile2614Met) c.7839C>G (p.Ile2613Met) c.1294C>G n.7925C>G | ClinVar gnomAD v4 |
19 | g.38502886C>T | CA070814 | RYR1 | c.7842C>T (p.Ile2614=) c.7839C>T (p.Ile2613=) c.1294C>T n.7925C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502886_38502887delinsAA | CA082762 | RYR1 | c.7842_7843delinsAA (p.Arg2615Ser) c.7839_7840delinsAA (p.Arg2614Ser) c.1294_1295delinsAA n.7925_7926delinsAA | |
19 | g.38502887C>A | CA405673540 | RYR1 | c.7843C>A (p.Arg2615Ser) c.7840C>A (p.Arg2614Ser) c.1295C>A n.7926C>A | gnomAD v4 |
19 | g.38502887C= | CA2335054801 | RYR1 | c.7843C= (p.Arg2615=) c.7840C= (p.Arg2614=) c.1295C= n.7926C= | |
19 | g.38502887C>G | CA405673541 | RYR1 | c.7843C>G (p.Arg2615Gly) c.7840C>G (p.Arg2614Gly) c.1295C>G n.7926C>G | ClinVar gnomAD v4 |
19 | g.38502887C>T | CA405673535 | RYR1 | c.7843C>T (p.Arg2615Cys) c.7840C>T (p.Arg2614Cys) c.1295C>T n.7926C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502888G>A | CA070820 | RYR1 | c.7844G>A (p.Arg2615His) c.7841G>A (p.Arg2614His) c.1296G>A n.7927G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502888G>C | CA405673546 | RYR1 | c.7844G>C (p.Arg2615Pro) c.7841G>C (p.Arg2614Pro) c.1296G>C n.7927G>C | gnomAD v4 |
19 | g.38502888G= | CA2335054802 | RYR1 | c.7844G= (p.Arg2615=) c.7841G= (p.Arg2614=) c.1296G= n.7927G= | |
19 | g.38502888G>T | CA405673547 | RYR1 | c.7844G>T (p.Arg2615Leu) c.7841G>T (p.Arg2614Leu) c.1296G>T n.7927G>T | gnomAD v4 |
19 | g.38502888_38502889delinsGC | CA2335054803 | RYR1 | c.7844_7845delinsGC (p.Arg2615=) c.7841_7842delinsGC (p.Arg2614=) c.1296_1297delinsGC n.7927_7928delinsGC | |
19 | g.38502889C>A | CA507354030 | RYR1 | c.7845C>A (p.Arg2615=) c.7842C>A (p.Arg2614=) c.1297C>A n.7928C>A | |
19 | g.38502889C= | CA2335054804 | RYR1 | c.7845C= (p.Arg2615=) c.7842C= (p.Arg2614=) c.1297C= n.7928C= | |
19 | g.38502889C>G | CA082767 | RYR1 | c.7845C>G (p.Arg2615=) c.7842C>G (p.Arg2614=) c.1297C>G n.7928C>G | ClinVar gnomAD v4 |
19 | g.38502889C>T | CA082769 | RYR1 | c.7845C>T (p.Arg2615=) c.7842C>T (p.Arg2614=) c.1297C>T n.7928C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502891del | CA1139666424 | RYR1 | c.7847del (p.Pro2616ArgfsTer?) c.7844del (p.Pro2615ArgfsTer?) c.1299del n.7930del | ClinVar dbSNP |
19 | g.38502890C>A | CA405673550 | RYR1 | c.7846C>A (p.Pro2616Thr) c.7843C>A (p.Pro2615Thr) c.1298C>A n.7929C>A | gnomAD v4 |
19 | g.38502890C>G | CA405673553 | RYR1 | c.7846C>G (p.Pro2616Ala) c.7843C>G (p.Pro2615Ala) c.1298C>G n.7929C>G | |
19 | g.38502890C>T | CA405673565 | RYR1 | c.7846C>T (p.Pro2616Ser) c.7843C>T (p.Pro2615Ser) c.1298C>T n.7929C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38502891C>A | CA405673574 | RYR1 | c.7847C>A (p.Pro2616Gln) c.7844C>A (p.Pro2615Gln) c.1299C>A n.7930C>A | |
19 | g.38502891C= | CA2335054805 | RYR1 | c.7847C= (p.Pro2616=) c.7844C= (p.Pro2615=) c.1299C= n.7930C= | |
19 | g.38502891C>G | CA405673568 | RYR1 | c.7847C>G (p.Pro2616Arg) c.7844C>G (p.Pro2615Arg) c.1299C>G n.7930C>G | ClinVar dbSNP |
19 | g.38502891C>T | CA405673570 | RYR1 | c.7847C>T (p.Pro2616Leu) c.7844C>T (p.Pro2615Leu) c.1299C>T n.7930C>T | COSMIC |
19 | g.38502892G>A | CA070828 | RYR1 | c.7848G>A (p.Pro2616=) c.7845G>A (p.Pro2615=) c.1300G>A n.7931G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502892G>C | CA308113326 | RYR1 | c.7848G>C (p.Pro2616=) c.7845G>C (p.Pro2615=) c.1300G>C n.7931G>C | ClinVar dbSNP gnomAD v4 |
19 | g.38502892G= | CA2335054806 | RYR1 | c.7848G= (p.Pro2616=) c.7845G= (p.Pro2615=) c.1300G= n.7931G= | |
19 | g.38502892G>T | CA507354034 | RYR1 | c.7848G>T (p.Pro2616=) c.7845G>T (p.Pro2615=) c.1300G>T n.7931G>T | ClinVar dbSNP gnomAD v4 |
19 | g.38502893T>A | CA405673580 | RYR1 | c.7849T>A (p.Ser2617Thr) c.7846T>A (p.Ser2616Thr) c.1301T>A n.7932T>A | |
19 | g.38502893T>C | CA405673583 | RYR1 | c.7849T>C (p.Ser2617Pro) c.7846T>C (p.Ser2616Pro) c.1301T>C n.7932T>C | gnomAD v4 |
19 | g.38502893T>G | CA405673586 | RYR1 | c.7849T>G (p.Ser2617Ala) c.7846T>G (p.Ser2616Ala) c.1301T>G n.7932T>G | |
19 | g.38502894C>A | CA405673588 | RYR1 | c.7850C>A (p.Ser2617Ter) c.7847C>A (p.Ser2616Ter) c.1302C>A n.7933C>A | ClinVar dbSNP |
19 | g.38502894C= | CA2335054807 | RYR1 | c.7850C= (p.Ser2617=) c.7847C= (p.Ser2616=) c.1302C= n.7933C= | |
19 | g.38502894C>G | CA082684 | RYR1 | c.7850C>G (p.Ser2617Trp) c.7847C>G (p.Ser2616Trp) c.1302C>G n.7933C>G | ClinVar |
19 | g.38502894C>T | CA070831 | RYR1 | c.7850C>T (p.Ser2617Leu) c.7847C>T (p.Ser2616Leu) c.1302C>T n.7933C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502895G>A | CA070838 | RYR1 | c.7851G>A (p.Ser2617=) c.7848G>A (p.Ser2616=) c.1303G>A n.7934G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502895G>C | CA507354036 | RYR1 | c.7851G>C (p.Ser2617=) c.7848G>C (p.Ser2616=) c.1303G>C n.7934G>C | gnomAD v4 |
19 | g.38502895G= | CA2335054808 | RYR1 | c.7851G= (p.Ser2617=) c.7848G= (p.Ser2616=) c.1303G= n.7934G= | |
19 | g.38502895G>T | CA507354037 | RYR1 | c.7851G>T (p.Ser2617=) c.7848G>T (p.Ser2616=) c.1303G>T n.7934G>T | ClinVar dbSNP gnomAD v4 |
19 | g.38502896A= | CA2335054809 | RYR1 | c.7852A= (p.Met2618=) c.7849A= (p.Met2617=) c.1304A= n.7935A= | |
19 | g.38502896A>C | CA405673605 | RYR1 | c.7852A>C (p.Met2618Leu) c.7849A>C (p.Met2617Leu) c.1304A>C n.7935A>C | gnomAD v4 |
19 | g.38502896A>G | CA405673611 | RYR1 | c.7852A>G (p.Met2618Val) c.7849A>G (p.Met2617Val) c.1304A>G n.7935A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502896A>T | CA405673614 | RYR1 | c.7852A>T (p.Met2618Leu) c.7849A>T (p.Met2617Leu) c.1304A>T n.7935A>T | |
19 | g.38502897T>A | CA405673629 | RYR1 | c.7853T>A (p.Met2618Lys) c.7850T>A (p.Met2617Lys) c.1305T>A n.7936T>A | gnomAD v4 |
19 | g.38502897T>C | CA070844 | RYR1 | c.7853T>C (p.Met2618Thr) c.7850T>C (p.Met2617Thr) c.1305T>C n.7936T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502897T>G | CA405673638 | RYR1 | c.7853T>G (p.Met2618Arg) c.7850T>G (p.Met2617Arg) c.1305T>G n.7936T>G | ClinVar gnomAD v4 |
19 | g.38502897T= | CA2335054810 | RYR1 | c.7853T= (p.Met2618=) c.7850T= (p.Met2617=) c.1305T= n.7936T= | |
19 | g.38502898G>A | CA070853 | RYR1 | c.7854G>A (p.Met2618Ile) c.7851G>A (p.Met2617Ile) c.1306G>A n.7937G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502898G>C | CA405673645 | RYR1 | c.7854G>C (p.Met2618Ile) c.7851G>C (p.Met2617Ile) c.1306G>C n.7937G>C | |
19 | g.38502898G= | CA2335054811 | RYR1 | c.7854G= (p.Met2618=) c.7851G= (p.Met2617=) c.1306G= n.7937G= | |
19 | g.38502898G>T | CA405673648 | RYR1 | c.7854G>T (p.Met2618Ile) c.7851G>T (p.Met2617Ile) c.1306G>T n.7937G>T | gnomAD v4 |
19 | g.38502899del | CA2584901126 | RYR1 | c.7855del (p.Leu2619CysfsTer?) c.7852del (p.Leu2618CysfsTer?) c.1307del n.7938del | ClinVar gnomAD v4 |
19 | g.38502899C>A | CA405673651 | RYR1 | c.7855C>A (p.Leu2619Met) c.7852C>A (p.Leu2618Met) c.1307C>A n.7938C>A | |
19 | g.38502899C= | CA2335054812 | RYR1 | c.7855C= (p.Leu2619=) c.7852C= (p.Leu2618=) c.1307C= n.7938C= | |
19 | g.38502899C>G | CA405673653 | RYR1 | c.7855C>G (p.Leu2619Val) c.7852C>G (p.Leu2618Val) c.1307C>G n.7938C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502899C>T | CA070859 | RYR1 | c.7855C>T (p.Leu2619=) c.7852C>T (p.Leu2618=) c.1307C>T n.7938C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502900T>A | CA405673656 | RYR1 | c.7856T>A (p.Leu2619Gln) c.7853T>A (p.Leu2618Gln) c.1308T>A n.7939T>A | dbSNP gnomAD v2 |
19 | g.38502900T>C | CA082875 | RYR1 | c.7856T>C (p.Leu2619Pro) c.7853T>C (p.Leu2618Pro) c.1308T>C n.7939T>C | ClinVar dbSNP |
19 | g.38502900T>G | CA405673657 | RYR1 | c.7856T>G (p.Leu2619Arg) c.7853T>G (p.Leu2618Arg) c.1308T>G n.7939T>G | |
19 | g.38502900T= | CA2335054813 | RYR1 | c.7856T= (p.Leu2619=) c.7853T= (p.Leu2618=) c.1308T= n.7939T= | |
19 | g.38502901_38502902insAGGGTG | CA082695 | RYR1 | c.7857_7858insAGGGTG (p.Leu2619_Gln2620insArgVal) c.7854_7855insAGGGTG (p.Leu2618_Gln2619insArgVal) c.1309_1310insAGGGTG n.7940_7941insAGGGTG | |
19 | g.38502901G>A | CA070866 | RYR1 | c.7857G>A (p.Leu2619=) c.7854G>A (p.Leu2618=) c.1309G>A n.7940G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502901G>C | CA507354040 | RYR1 | c.7857G>C (p.Leu2619=) c.7854G>C (p.Leu2618=) c.1309G>C n.7940G>C | ClinVar dbSNP gnomAD v4 |
19 | g.38502901G= | CA2335054814 | RYR1 | c.7857G= (p.Leu2619=) c.7854G= (p.Leu2618=) c.1309G= n.7940G= | |
19 | g.38502901G>T | CA507354039 | RYR1 | c.7857G>T (p.Leu2619=) c.7854G>T (p.Leu2618=) c.1309G>T n.7940G>T | gnomAD v4 |
19 | g.38502902C>A | CA405673663 | RYR1 | c.7858C>A (p.Gln2620Lys) c.7855C>A (p.Gln2619Lys) c.1310C>A n.7941C>A | dbSNP |
19 | g.38502902C= | CA2335054815 | RYR1 | c.7858C= (p.Gln2620=) c.7855C= (p.Gln2619=) c.1310C= n.7941C= | |
19 | g.38502902C>G | CA405673659 | RYR1 | c.7858C>G (p.Gln2620Glu) c.7855C>G (p.Gln2619Glu) c.1310C>G n.7941C>G | gnomAD v4 |
19 | g.38502902C>T | CA082877 | RYR1 | c.7858C>T (p.Gln2620Ter) c.7855C>T (p.Gln2619Ter) c.1310C>T n.7941C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502903A= | CA2335054816 | RYR1 | c.7859A= (p.Gln2620=) c.7856A= (p.Gln2619=) c.1311A= n.7942A= | |
19 | g.38502903A>C | CA405673674 | RYR1 | c.7859A>C (p.Gln2620Pro) c.7856A>C (p.Gln2619Pro) c.1311A>C n.7942A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502903A>G | CA405673676 | RYR1 | c.7859A>G (p.Gln2620Arg) c.7856A>G (p.Gln2619Arg) c.1311A>G n.7942A>G | |
19 | g.38502903A>T | CA405673680 | RYR1 | c.7859A>T (p.Gln2620Leu) c.7856A>T (p.Gln2619Leu) c.1311A>T n.7942A>T | |
19 | g.38502904G>A | CA070869 | RYR1 | c.7860G>A (p.Gln2620=) c.7857G>A (p.Gln2619=) c.1312G>A n.7943G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502904G>C | CA405673688 | RYR1 | c.7860G>C (p.Gln2620His) c.7857G>C (p.Gln2619His) c.1312G>C n.7943G>C | |
19 | g.38502904G= | CA2335054817 | RYR1 | c.7860G= (p.Gln2620=) c.7857G= (p.Gln2619=) c.1312G= n.7943G= | |
19 | g.38502904G>T | CA405673689 | RYR1 | c.7860G>T (p.Gln2620His) c.7857G>T (p.Gln2619His) c.1312G>T n.7943G>T | |
19 | g.38502905C>A | CA405673691 | RYR1 | c.7861C>A (p.His2621Asn) c.7858C>A (p.His2620Asn) c.1313C>A n.7944C>A | |
19 | g.38502905C= | CA2335054818 | RYR1 | c.7861C= (p.His2621=) c.7858C= (p.His2620=) c.1313C= n.7944C= | |
19 | g.38502905C>G | CA405673693 | RYR1 | c.7861C>G (p.His2621Asp) c.7858C>G (p.His2620Asp) c.1313C>G n.7944C>G | |
19 | g.38502905C>T | CA070877 | RYR1 | c.7861C>T (p.His2621Tyr) c.7858C>T (p.His2620Tyr) c.1313C>T n.7944C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502906A= | CA2335054819 | RYR1 | c.7862A= (p.His2621=) c.7859A= (p.His2620=) c.1314A= n.7945A= | |
19 | g.38502906A>C | CA405673706 | RYR1 | c.7862A>C (p.His2621Pro) c.7859A>C (p.His2620Pro) c.1314A>C n.7945A>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502906A>G | CA405673700 | RYR1 | c.7862A>G (p.His2621Arg) c.7859A>G (p.His2620Arg) c.1314A>G n.7945A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502906A>T | CA405673703 | RYR1 | c.7862A>T (p.His2621Leu) c.7859A>T (p.His2620Leu) c.1314A>T n.7945A>T | |
19 | g.38502907C>A | CA405673709 | RYR1 | c.7863C>A (p.His2621Gln) c.7860C>A (p.His2620Gln) c.1315C>A n.7946C>A | |
19 | g.38502907C= | CA2335054820 | RYR1 | c.7863C= (p.His2621=) c.7860C= (p.His2620=) c.1315C= n.7946C= | |
19 | g.38502907C>G | CA405673729 | RYR1 | c.7863C>G (p.His2621Gln) c.7860C>G (p.His2620Gln) c.1315C>G n.7946C>G | ClinVar dbSNP gnomAD v4 |
19 | g.38502907C>T | CA024868 | RYR1 | c.7863C>T (p.His2621=) c.7860C>T (p.His2620=) c.1315C>T n.7946C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502907_38502908delinsCC | CA2335054821 | RYR1 | c.7863_7864delinsCC (p.His2621=) c.7860_7861delinsCC (p.His2620=) c.1315_1316delinsCC n.7946_7947delinsCC | |
19 | g.38502907_38502908delinsTT | CA915952999 | RYR1 | c.7863_7864delinsTT (p.His2621=) c.7860_7861delinsTT (p.His2620=) c.1315_1316delinsTT n.7946_7947delinsTT | ClinVar dbSNP |
19 | g.38502908C>A | CA405673732 | RYR1 | c.7864C>A (p.Leu2622Met) c.7861C>A (p.Leu2621Met) c.1316C>A n.7947C>A | |
19 | g.38502908C= | CA2335054822 | RYR1 | c.7864C= (p.Leu2622=) c.7861C= (p.Leu2621=) c.1316C= n.7947C= | |
19 | g.38502908C>G | CA405673733 | RYR1 | c.7864C>G (p.Leu2622Val) c.7861C>G (p.Leu2621Val) c.1316C>G n.7947C>G | ClinVar gnomAD v4 |
19 | g.38502908C>T | CA082716 | RYR1 | c.7864C>T (p.Leu2622=) c.7861C>T (p.Leu2621=) c.1316C>T n.7947C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502909T>A | CA405673738 | RYR1 | c.7865T>A (p.Leu2622Gln) c.7862T>A (p.Leu2621Gln) c.1317T>A n.7948T>A | |
19 | g.38502909T>C | CA405673741 | RYR1 | c.7865T>C (p.Leu2622Pro) c.7862T>C (p.Leu2621Pro) c.1317T>C n.7948T>C | gnomAD v4 |
19 | g.38502909T>G | CA405673744 | RYR1 | c.7865T>G (p.Leu2622Arg) c.7862T>G (p.Leu2621Arg) c.1317T>G n.7948T>G | |
19 | g.38502911_38502913del | CA082721 | RYR1 | c.7867_7869del (p.Leu2623del) c.7864_7866del (p.Leu2622del) c.1319_1321del n.7950_7952del | |
19 | g.38502910G>A | CA507354045 | RYR1 | c.7866G>A (p.Leu2622=) c.7863G>A (p.Leu2621=) c.1318G>A n.7949G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38502910G>C | CA507354046 | RYR1 | c.7866G>C (p.Leu2622=) c.7863G>C (p.Leu2621=) c.1318G>C n.7949G>C | ClinVar dbSNP |
19 | g.38502910G= | CA2335054823 | RYR1 | c.7866G= (p.Leu2622=) c.7863G= (p.Leu2621=) c.1318G= n.7949G= | |
19 | g.38502910G>T | CA507354047 | RYR1 | c.7866G>T (p.Leu2622=) c.7863G>T (p.Leu2621=) c.1318G>T n.7949G>T | ClinVar gnomAD v4 |
19 | g.38502911T>A | CA405673746 | RYR1 | c.7867T>A (p.Leu2623Met) c.7864T>A (p.Leu2622Met) c.1319T>A n.7950T>A | gnomAD v4 |
19 | g.38502911T>C | CA507354048 | RYR1 | c.7867T>C (p.Leu2623=) c.7864T>C (p.Leu2622=) c.1319T>C n.7950T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502911T>G | CA405673749 | RYR1 | c.7867T>G (p.Leu2623Val) c.7864T>G (p.Leu2622Val) c.1319T>G n.7950T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502911T= | CA2335054824 | RYR1 | c.7867T= (p.Leu2623=) c.7864T= (p.Leu2622=) c.1319T= n.7950T= | |
19 | g.38502912T>A | CA405673754 | RYR1 | c.7868T>A (p.Leu2623Ter) c.7865T>A (p.Leu2622Ter) c.1320T>A n.7951T>A | |
19 | g.38502912T>C | CA405673759 | RYR1 | c.7868T>C (p.Leu2623Ser) c.7865T>C (p.Leu2622Ser) c.1320T>C n.7951T>C | |
19 | g.38502912T>G | CA405673751 | RYR1 | c.7868T>G (p.Leu2623Trp) c.7865T>G (p.Leu2622Trp) c.1320T>G n.7951T>G | |
19 | g.38502913G>A | CA070899 | RYR1 | c.7869G>A (p.Leu2623=) c.7866G>A (p.Leu2622=) c.1321G>A n.7952G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502913G>C | CA405673763 | RYR1 | c.7869G>C (p.Leu2623Phe) c.7866G>C (p.Leu2622Phe) c.1321G>C n.7952G>C | ClinVar gnomAD v4 |
19 | g.38502913G= | CA2335054825 | RYR1 | c.7869G= (p.Leu2623=) c.7866G= (p.Leu2622=) c.1321G= n.7952G= | |
19 | g.38502913G>T | CA405673776 | RYR1 | c.7869G>T (p.Leu2623Phe) c.7866G>T (p.Leu2622Phe) c.1321G>T n.7952G>T | gnomAD v4 |
19 | g.38502914C>A | CA405673782 | RYR1 | c.7870C>A (p.Arg2624Ser) c.7867C>A (p.Arg2623Ser) c.1322C>A n.7953C>A | |
19 | g.38502914C= | CA2335054826 | RYR1 | c.7870C= (p.Arg2624=) c.7867C= (p.Arg2623=) c.1322C= n.7953C= | |
19 | g.38502914C>G | CA405673790 | RYR1 | c.7870C>G (p.Arg2624Gly) c.7867C>G (p.Arg2623Gly) c.1322C>G n.7953C>G | gnomAD v4 |
19 | g.38502914C>T | CA082728 | RYR1 | c.7870C>T (p.Arg2624Cys) c.7867C>T (p.Arg2623Cys) c.1322C>T n.7953C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502918_38502955del | CA082731 | RYR1 | c.7874_7911del (p.Arg2625GlnfsTer12) c.7871_7908del (p.Arg2624GlnfsTer12) c.1326_1363del n.7957_7994del | |
19 | g.38502915G>A | CA405673794 | RYR1 | c.7871G>A (p.Arg2624His) c.7868G>A (p.Arg2623His) c.1323G>A n.7954G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502915G>C | CA405673797 | RYR1 | c.7871G>C (p.Arg2624Pro) c.7868G>C (p.Arg2623Pro) c.1323G>C n.7954G>C | ClinVar gnomAD v4 |
19 | g.38502915G= | CA2335054827 | RYR1 | c.7871G= (p.Arg2624=) c.7868G= (p.Arg2623=) c.1323G= n.7954G= | |
19 | g.38502915G>T | CA405673799 | RYR1 | c.7871G>T (p.Arg2624Leu) c.7868G>T (p.Arg2623Leu) c.1323G>T n.7954G>T | gnomAD v4 |
19 | g.38502916C>A | CA070913 | RYR1 | c.7872C>A (p.Arg2624=) c.7869C>A (p.Arg2623=) c.1324C>A n.7955C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502916C= | CA2335054828 | RYR1 | c.7872C= (p.Arg2624=) c.7869C= (p.Arg2623=) c.1324C= n.7955C= | |
19 | g.38502916C>G | CA308113415 | RYR1 | c.7872C>G (p.Arg2624=) c.7869C>G (p.Arg2623=) c.1324C>G n.7955C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502916C>T | CA024870 | RYR1 | c.7872C>T (p.Arg2624=) c.7869C>T (p.Arg2623=) c.1324C>T n.7955C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502916_38502917delinsTT | CA2573156352 | RYR1 | c.7872_7873delinsTT (p.Arg2625Cys) c.7869_7870delinsTT (p.Arg2624Cys) c.1324_1325delinsTT n.7955_7956delinsTT | ClinVar dbSNP |
19 | g.38502917C>A | CA405673804 | RYR1 | c.7873C>A (p.Arg2625Ser) c.7870C>A (p.Arg2624Ser) c.1325C>A n.7956C>A | |
19 | g.38502917C= | CA2335054829 | RYR1 | c.7873C= (p.Arg2625=) c.7870C= (p.Arg2624=) c.1325C= n.7956C= | |
19 | g.38502917C>G | CA405673801 | RYR1 | c.7873C>G (p.Arg2625Gly) c.7870C>G (p.Arg2624Gly) c.1325C>G n.7956C>G | |
19 | g.38502917C>T | CA070926 | RYR1 | c.7873C>T (p.Arg2625Cys) c.7870C>T (p.Arg2624Cys) c.1325C>T n.7956C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502918G>A | CA070928 | RYR1 | c.7874G>A (p.Arg2625His) c.7871G>A (p.Arg2624His) c.1326G>A n.7957G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502918G>C | CA405673814 | RYR1 | c.7874G>C (p.Arg2625Pro) c.7871G>C (p.Arg2624Pro) c.1326G>C n.7957G>C | ClinVar dbSNP |
19 | g.38502918G= | CA2335054830 | RYR1 | c.7874G= (p.Arg2625=) c.7871G= (p.Arg2624=) c.1326G= n.7957G= | |
19 | g.38502918G>T | CA070934 | RYR1 | c.7874G>T (p.Arg2625Leu) c.7871G>T (p.Arg2624Leu) c.1326G>T n.7957G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502918_38502926delinsA | CA082738 | RYR1 | c.7874_7882delinsA (p.Arg2625HisfsTer22) c.7871_7879delinsA (p.Arg2624HisfsTer22) c.1326_1334delinsA n.7957_7965delinsA | |
19 | g.38502919C>A | CA082891 | RYR1 | c.7875C>A (p.Arg2625=) c.7872C>A (p.Arg2624=) c.1327C>A n.7958C>A | gnomAD v4 |
19 | g.38502919C= | CA2335054831 | RYR1 | c.7875C= (p.Arg2625=) c.7872C= (p.Arg2624=) c.1327C= n.7958C= | |
19 | g.38502919C>G | CA070940 | RYR1 | c.7875C>G (p.Arg2625=) c.7872C>G (p.Arg2624=) c.1327C>G n.7958C>G | dbSNP ExAC gnomAD v4 |
19 | g.38502919C>T | CA070942 | RYR1 | c.7875C>T (p.Arg2625=) c.7872C>T (p.Arg2624=) c.1327C>T n.7958C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502920C>A | CA405673819 | RYR1 | c.7876C>A (p.Leu2626Met) c.7873C>A (p.Leu2625Met) c.1328C>A n.7959C>A | gnomAD v4 |
19 | g.38502920C= | CA2335054832 | RYR1 | c.7876C= (p.Leu2626=) c.7873C= (p.Leu2625=) c.1328C= n.7959C= | |
19 | g.38502920C>G | CA070948 | RYR1 | c.7876C>G (p.Leu2626Val) c.7873C>G (p.Leu2625Val) c.1328C>G n.7959C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502920C>T | CA070955 | RYR1 | c.7876C>T (p.Leu2626=) c.7873C>T (p.Leu2625=) c.1328C>T n.7959C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502920_38502923delinsAGGC | CA082745 | RYR1 | c.7876_7879delinsAGGC (p.Leu2626_Val2627delinsArgLeu) c.7873_7876delinsAGGC (p.Leu2625_Val2626delinsArgLeu) c.1328_1331delinsAGGC n.7959_7962delinsAGGC |