| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38502734_38502816del | CA9415823 | RYR1 | c.7835+7_7836-64del (n.7835+7_7836-64del) c.7832+7_7833-64del (n.7832+7_7833-64del) c.1287+7_1288-64del n.7918+7_7919-64del | ExAC |
| 19 | g.38502743_38502777del | CA633066205 | RYR1 | c.7835+16_7835+50del (n.7835+16_7835+50del) c.7832+16_7832+50del (n.7832+16_7832+50del) c.1287+16_1287+50del n.7918+16_7918+50del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38502743_38502783del | CA2584900613 | RYR1 | c.7835+16_7835+56del (n.7835+16_7835+56del) c.7832+16_7832+56del (n.7832+16_7832+56del) c.1287+16_1287+56del n.7918+16_7918+56del | gnomAD v4 |
| 19 | g.38502737_38502816del | CA9415824 | RYR1 | c.7835+10_7836-64del (n.7835+10_7836-64del) c.7832+10_7833-64del (n.7832+10_7833-64del) c.1287+10_1288-64del n.7918+10_7919-64del | ExAC |
| 19 | g.38502751_38502809del | CA995717359 | RYR1 | c.7835+24_7836-71del (n.7835+24_7836-71del) c.7832+24_7833-71del (n.7832+24_7833-71del) c.1287+24_1288-71del n.7918+24_7919-71del | gnomAD v3 gnomAD v4 |
| 19 | g.38502751_38502810del | CA995717362 | RYR1 | c.7835+24_7836-70del (n.7835+24_7836-70del) c.7832+24_7833-70del (n.7832+24_7833-70del) c.1287+24_1288-70del n.7918+24_7919-70del | gnomAD v3 gnomAD v4 |
| 19 | g.38502751_38502792del | CA2584900627 | RYR1 | c.7835+24_7835+65del (n.7835+24_7835+65del) c.7832+24_7832+65del (n.7832+24_7832+65del) c.1287+24_1287+65del n.7918+24_7918+65del | gnomAD v4 |
| 19 | g.38502751_38502793delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA | CA2335054502 | RYR1 | c.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA (n.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA) c.7832+24_7832+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA (n.7832+24_7832+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA) c.1287+24_1287+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA n.7918+24_7918+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA | |
| 19 | g.38502751_38502816del | CA9415827 | RYR1 | c.7835+24_7836-64del (n.7835+24_7836-64del) c.7832+24_7833-64del (n.7832+24_7833-64del) c.1287+24_1288-64del n.7918+24_7919-64del | ExAC gnomAD v3 gnomAD v4 |
| 19 | g.38502751_38502817delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA | CA2335054501 | RYR1 | c.7835+24_7836-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA (n.7835+24_7836-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA) c.7832+24_7833-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA (n.7832+24_7833-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA) c.1287+24_1288-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA n.7918+24_7919-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA | |
| 19 | g.38502791_38502792insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA2584900635 | RYR1 | c.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7832+64_7832+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7832+64_7832+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1287+64_1287+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7918+64_7918+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v4 |
| 19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA2584900633 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v4 |
| 19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA2584900634 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v4 |
| 19 | g.38502804_38502809dup | CA633066215 | RYR1 | c.7836-76_7836-71dup (n.7836-76_7836-71dup) c.7833-76_7833-71dup (n.7833-76_7833-71dup) c.1288-76_1288-71dup n.7919-76_7919-71dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38502798_38502809dup | CA633066216 | RYR1 | c.7835+71_7836-71dup (n.7835+71_7836-71dup) c.7832+71_7833-71dup (n.7832+71_7833-71dup) c.1287+71_1288-71dup n.7918+71_7919-71dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38502792_38502809dup | CA633066217 | RYR1 | c.7835+65_7836-71dup (n.7835+65_7836-71dup) c.7832+65_7833-71dup (n.7832+65_7833-71dup) c.1287+65_1288-71dup n.7918+65_7919-71dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38502786_38502809dup | CA920105557 | RYR1 | c.7835+59_7836-71dup (n.7835+59_7836-71dup) c.7832+59_7833-71dup (n.7832+59_7833-71dup) c.1287+59_1288-71dup n.7918+59_7919-71dup | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38502780_38502809dup | CA995717544 | RYR1 | c.7835+53_7836-71dup (n.7835+53_7836-71dup) c.7832+53_7833-71dup (n.7832+53_7833-71dup) c.1287+53_1288-71dup n.7918+53_7919-71dup | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38502774_38502809dup | CA995717550 | RYR1 | c.7835+47_7836-71dup (n.7835+47_7836-71dup) c.7832+47_7833-71dup (n.7832+47_7833-71dup) c.1287+47_1288-71dup n.7918+47_7919-71dup | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38502768_38502809dup | CA995717552 | RYR1 | c.7835+41_7836-71dup (n.7835+41_7836-71dup) c.7832+41_7833-71dup (n.7832+41_7833-71dup) c.1287+41_1288-71dup n.7918+41_7919-71dup | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38502762_38502809dup | CA995717512 | RYR1 | c.7835+35_7836-71dup (n.7835+35_7836-71dup) c.7832+35_7833-71dup (n.7832+35_7833-71dup) c.1287+35_1288-71dup n.7918+35_7919-71dup | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38502756_38502809dup | CA995717513 | RYR1 | c.7835+29_7836-71dup (n.7835+29_7836-71dup) c.7832+29_7833-71dup (n.7832+29_7833-71dup) c.1287+29_1288-71dup n.7918+29_7919-71dup | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38502804_38502809del | CA9415831 | RYR1 | c.7836-76_7836-71del (n.7836-76_7836-71del) c.7833-76_7833-71del (n.7833-76_7833-71del) c.1288-76_1288-71del n.7919-76_7919-71del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38502798_38502809del | CA9415832 | RYR1 | c.7835+71_7836-71del (n.7835+71_7836-71del) c.7832+71_7833-71del (n.7832+71_7833-71del) c.1287+71_1288-71del n.7918+71_7919-71del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38502792_38502809del | CA9415830 | RYR1 | c.7835+65_7836-71del (n.7835+65_7836-71del) c.7832+65_7833-71del (n.7832+65_7833-71del) c.1287+65_1288-71del n.7918+65_7919-71del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38502786_38502809del | CA9415834 | RYR1 | c.7835+59_7836-71del (n.7835+59_7836-71del) c.7832+59_7833-71del (n.7832+59_7833-71del) c.1287+59_1288-71del n.7918+59_7919-71del | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.38502780_38502809del | CA9415833 | RYR1 | c.7835+53_7836-71del (n.7835+53_7836-71del) c.7832+53_7833-71del (n.7832+53_7833-71del) c.1287+53_1288-71del n.7918+53_7919-71del | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.38502774_38502809del | CA070415 | RYR1 | c.7835+47_7836-71del (n.7835+47_7836-71del) c.7832+47_7833-71del (n.7832+47_7833-71del) c.1287+47_1288-71del n.7918+47_7919-71del | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.38502768_38502809del | CA995717500 | RYR1 | c.7835+41_7836-71del (n.7835+41_7836-71del) c.7832+41_7833-71del (n.7832+41_7833-71del) c.1287+41_1288-71del n.7918+41_7919-71del | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38502762_38502809del | CA995717501 | RYR1 | c.7835+35_7836-71del (n.7835+35_7836-71del) c.7832+35_7833-71del (n.7832+35_7833-71del) c.1287+35_1288-71del n.7918+35_7919-71del | gnomAD v3 gnomAD v4 |
| 19 | g.38502754_38502813del | CA995717505 | RYR1 | c.7835+27_7836-67del (n.7835+27_7836-67del) c.7832+27_7833-67del (n.7832+27_7833-67del) c.1287+27_1288-67del n.7918+27_7919-67del | gnomAD v3 gnomAD v4 |
| 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.38502754_38502814delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA | CA2335054507 | RYR1 | c.7835+27_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+27_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA) c.7832+27_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+27_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA) c.1287+27_1288-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA n.7918+27_7919-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA | |
| 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.38502756_38502814delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA | CA2335054512 | RYR1 | c.7835+29_7836-66delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+29_7836-66delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA) c.7832+29_7833-66delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+29_7833-66delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA) c.1287+29_1288-66delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA n.7918+29_7919-66delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA | |
| 19 | g.38502756_38502816del | CA995717592 | RYR1 | c.7835+29_7836-64del (n.7835+29_7836-64del) c.7832+29_7833-64del (n.7832+29_7833-64del) c.1287+29_1288-64del n.7918+29_7919-64del | gnomAD v3 gnomAD v4 |
| 19 | g.38502757_38502784del | CA9415843 | RYR1 | c.7835+30_7835+57del (n.7835+30_7835+57del) c.7832+30_7832+57del (n.7832+30_7832+57del) c.1287+30_1287+57del n.7918+30_7918+57del | ExAC |
| 19 | g.38502791_38502792insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA633066225 | RYR1 | c.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7832+64_7832+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7832+64_7832+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1287+64_1287+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7918+64_7918+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38502797_38502798insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA995717605 | RYR1 | c.7835+70_7835+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7835+70_7835+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7832+70_7832+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7832+70_7832+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1287+70_1287+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7918+70_7918+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v3 gnomAD v4 |
| 19 | g.38502803_38502804insGAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA633066224 | RYR1 | c.7836-77_7836-76insGAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-77_7836-76insGAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7833-77_7833-76insGAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-77_7833-76insGAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1288-77_1288-76insGAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7919-77_7919-76insGAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38502757_38502814del | CA9415841 | RYR1 | c.7835+30_7836-66del (n.7835+30_7836-66del) c.7832+30_7833-66del (n.7832+30_7833-66del) c.1287+30_1288-66del n.7918+30_7919-66del | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.38502774_38502775insGGGGGCAGGGGCAGGGGC | CA9415844 | RYR1 | c.7835+47_7835+48insGGGGGCAGGGGCAGGGGC (n.7835+47_7835+48insGGGGGCAGGGGCAGGGGC) c.7832+47_7832+48insGGGGGCAGGGGCAGGGGC (n.7832+47_7832+48insGGGGGCAGGGGCAGGGGC) c.1287+47_1287+48insGGGGGCAGGGGCAGGGGC n.7918+47_7918+48insGGGGGCAGGGGCAGGGGC | dbSNP ExAC |
| 19 | g.38502783_38502784insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG | CA2584900672 | RYR1 | c.7835+56_7835+57insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7835+56_7835+57insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG) c.7832+56_7832+57insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7832+56_7832+57insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG) c.1287+56_1287+57insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG n.7918+56_7918+57insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG | gnomAD v4 |
| 19 | g.38502775_38502776insAGGGCAGGGGCAGGGGCA | CA995717624 | RYR1 | c.7835+48_7835+49insAGGGCAGGGGCAGGGGCA (n.7835+48_7835+49insAGGGCAGGGGCAGGGGCA) c.7832+48_7832+49insAGGGCAGGGGCAGGGGCA (n.7832+48_7832+49insAGGGCAGGGGCAGGGGCA) c.1287+48_1287+49insAGGGCAGGGGCAGGGGCA n.7918+48_7918+49insAGGGCAGGGGCAGGGGCA | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38502759_38502816del | CA9415847 | RYR1 | c.7835+32_7836-64del (n.7835+32_7836-64del) c.7832+32_7833-64del (n.7832+32_7833-64del) c.1287+32_1288-64del n.7918+32_7919-64del | ExAC |
| 19 | g.38502776_38502777insAGGCAGGGGCAGGGGCAG | CA2584900676 | RYR1 | c.7835+49_7835+50insAGGCAGGGGCAGGGGCAG (n.7835+49_7835+50insAGGCAGGGGCAGGGGCAG) c.7832+49_7832+50insAGGCAGGGGCAGGGGCAG (n.7832+49_7832+50insAGGCAGGGGCAGGGGCAG) c.1287+49_1287+50insAGGCAGGGGCAGGGGCAG n.7918+49_7918+50insAGGCAGGGGCAGGGGCAG | gnomAD v4 |
| 19 | g.38502776_38502777insCGGCAGGGGCAGGGGCAG | CA920105567 | RYR1 | c.7835+49_7835+50insCGGCAGGGGCAGGGGCAG (n.7835+49_7835+50insCGGCAGGGGCAGGGGCAG) c.7832+49_7832+50insCGGCAGGGGCAGGGGCAG (n.7832+49_7832+50insCGGCAGGGGCAGGGGCAG) c.1287+49_1287+50insCGGCAGGGGCAGGGGCAG n.7918+49_7918+50insCGGCAGGGGCAGGGGCAG | dbSNP |
| 19 | g.38502760_38502814delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA | CA2335054522 | RYR1 | c.7835+33_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+33_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA) c.7832+33_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+33_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA) c.1287+33_1288-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA n.7918+33_7919-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA | |
| 19 | g.38502761_38502798delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC | CA2335054525 | RYR1 | c.7835+34_7835+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7835+34_7835+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC) c.7832+34_7832+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7832+34_7832+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC) c.1287+34_1287+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC n.7918+34_7918+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC | |
| 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 |