Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38502729_38502769delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA | CA2335054457 | RYR1 | c.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA (n.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA) c.7832+2_7832+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA (n.7832+2_7832+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA) c.1287+2_1287+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA n.7918+2_7918+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA | |
19 | g.38502732_38502771del | CA633066204 | RYR1 | c.7835+5_7835+44del (n.7835+5_7835+44del) c.7832+5_7832+44del (n.7832+5_7832+44del) c.1287+5_1287+44del n.7918+5_7918+44del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502734_38502769delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA | CA2335054469 | RYR1 | c.7835+7_7835+42delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA (n.7835+7_7835+42delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA) c.7832+7_7832+42delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA (n.7832+7_7832+42delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA) c.1287+7_1287+42delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA n.7918+7_7918+42delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA | |
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_38502771del | CA882053910 | RYR1 | c.7835+16_7835+44del (n.7835+16_7835+44del) c.7832+16_7832+44del (n.7832+16_7832+44del) c.1287+16_1287+44del n.7918+16_7918+44del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
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.38502745_38502769del | CA2584900621 | RYR1 | c.7835+18_7835+42del (n.7835+18_7835+42del) c.7832+18_7832+42del (n.7832+18_7832+42del) c.1287+18_1287+42del n.7918+18_7918+42del | gnomAD v4 |
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.38502771_38502772insAGCAGGGGCAGGGGCAGGGGCAGG | CA2584900663 | RYR1 | c.7835+44_7835+45insAGCAGGGGCAGGGGCAGGGGCAGG (n.7835+44_7835+45insAGCAGGGGCAGGGGCAGGGGCAGG) c.7832+44_7832+45insAGCAGGGGCAGGGGCAGGGGCAGG (n.7832+44_7832+45insAGCAGGGGCAGGGGCAGGGGCAGG) c.1287+44_1287+45insAGCAGGGGCAGGGGCAGGGGCAGG n.7918+44_7918+45insAGCAGGGGCAGGGGCAGGGGCAGG | gnomAD v4 |
19 | g.38502771_38502772insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG | CA2584900643 | RYR1 | c.7835+44_7835+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7835+44_7835+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG) c.7832+44_7832+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7832+44_7832+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG) c.1287+44_1287+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG n.7918+44_7918+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG | gnomAD v4 |
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.38502770_38502771insAGGCAGGGGCAGGGGCAG | CA2584900664 | RYR1 | c.7835+43_7835+44insAGGCAGGGGCAGGGGCAG (n.7835+43_7835+44insAGGCAGGGGCAGGGGCAG) c.7832+43_7832+44insAGGCAGGGGCAGGGGCAG (n.7832+43_7832+44insAGGCAGGGGCAGGGGCAG) c.1287+43_1287+44insAGGCAGGGGCAGGGGCAG n.7918+43_7918+44insAGGCAGGGGCAGGGGCAG | 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.38502772_38502773insACAGGGGCAGGGGCAGGG | CA633066222 | RYR1 | c.7835+45_7835+46insACAGGGGCAGGGGCAGGG (n.7835+45_7835+46insACAGGGGCAGGGGCAGGG) c.7832+45_7832+46insACAGGGGCAGGGGCAGGG (n.7832+45_7832+46insACAGGGGCAGGGGCAGGG) c.1287+45_1287+46insACAGGGGCAGGGGCAGGG n.7918+45_7918+46insACAGGGGCAGGGGCAGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502772_38502773insTCAGGGGCAGGGGCAGGG | CA2584900667 | RYR1 | c.7835+45_7835+46insTCAGGGGCAGGGGCAGGG (n.7835+45_7835+46insTCAGGGGCAGGGGCAGGG) c.7832+45_7832+46insTCAGGGGCAGGGGCAGGG (n.7832+45_7832+46insTCAGGGGCAGGGGCAGGG) c.1287+45_1287+46insTCAGGGGCAGGGGCAGGG n.7918+45_7918+46insTCAGGGGCAGGGGCAGGG | 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_38502773del | CA2584900669 | RYR1 | c.7835+30_7835+46del (n.7835+30_7835+46del) c.7832+30_7832+46del (n.7832+30_7832+46del) c.1287+30_1287+46del n.7918+30_7918+46del | 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 |