Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38502734_38502816delCA9415823RYR1c.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
19g.38502737_38502816delCA9415824RYR1c.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
19g.38502751_38502810delCA995717362RYR1c.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
19g.38502751_38502816delCA9415827RYR1c.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
19g.38502751_38502817delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCACA2335054501RYR1c.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
19g.38502754_38502813delCA995717505RYR1c.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
19g.38502765_38502830delCA995717507RYR1c.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
19g.38502754_38502814delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGACA2335054507RYR1c.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
19g.38502771_38502830delCA9415836RYR1c.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
19g.38502756_38502814delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGACA2335054512RYR1c.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
19g.38502756_38502816delCA995717592RYR1c.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
19g.38502757_38502814delCA9415841RYR1c.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
19g.38502759_38502816delCA9415847RYR1c.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
19g.38502760_38502814delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGACA2335054522RYR1c.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
19g.38502777_38502830delCA9415852RYR1c.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
19g.38502762_38502810delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGCA2335054528RYR1c.7835+35_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG (n.7835+35_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG)
c.7832+35_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG (n.7832+35_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG)
c.1287+35_1288-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG
n.7918+35_7919-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG
19g.38502766_38502813delCA9415856RYR1c.7835+39_7836-67del (n.7835+39_7836-67del)
c.7832+39_7833-67del (n.7832+39_7833-67del)
c.1287+39_1288-67del
n.7918+39_7919-67del
dbSNP ExAC
19g.38502765_38502816delCA995717699RYR1c.7835+38_7836-64del (n.7835+38_7836-64del)
c.7832+38_7833-64del (n.7832+38_7833-64del)
c.1287+38_1288-64del
n.7918+38_7919-64del
gnomAD v3 gnomAD v4
19g.38502766_38502814delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGACA2335054543RYR1c.7835+39_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+39_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.7832+39_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+39_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.1287+39_1288-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA
n.7918+39_7919-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA
19g.38502783_38502830delCA9415868RYR1c.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
19g.38502768_38502810delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGCA2335054549RYR1c.7835+41_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG (n.7835+41_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG)
c.7832+41_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG (n.7832+41_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG)
c.1287+41_1288-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG
n.7918+41_7919-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG
19g.38502772_38502813delCA9415870RYR1c.7835+45_7836-67del (n.7835+45_7836-67del)
c.7832+45_7833-67del (n.7832+45_7833-67del)
c.1287+45_1288-67del
n.7918+45_7919-67del
dbSNP ExAC
19g.38502770_38502814delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGACA2335054558RYR1c.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.7832+43_7833-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+43_7833-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.1287+43_1288-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA
n.7918+43_7919-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA
19g.38502770_38502816delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCCA2335054555RYR1c.7835+43_7836-64delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGC (n.7835+43_7836-64delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGC)
c.7832+43_7833-64delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGC (n.7832+43_7833-64delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGC)
c.1287+43_1288-64delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGC
n.7918+43_7919-64delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGC
19g.38502772_38502815delCA9415878RYR1c.7835+45_7836-65del (n.7835+45_7836-65del)
c.7832+45_7833-65del (n.7832+45_7833-65del)
c.1287+45_1288-65del
n.7918+45_7919-65del
dbSNP ExAC gnomAD v4
19g.38502771_38502816delCA9415879RYR1c.7835+44_7836-64del (n.7835+44_7836-64del)
c.7832+44_7833-64del (n.7832+44_7833-64del)
c.1287+44_1288-64del
n.7918+44_7919-64del
dbSNP ExAC
19g.38502772_38502814delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGACA2335054563RYR1c.7835+45_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+45_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.7832+45_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+45_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.1287+45_1288-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA
n.7918+45_7919-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA
19g.38502789_38502830delCA9415883RYR1c.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
19g.38502774_38502810delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGCA2335054569RYR1c.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG (n.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG)
c.7832+47_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG (n.7832+47_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG)
c.1287+47_1288-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG
n.7918+47_7919-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG
19g.38502778_38502813delCA9415886RYR1c.7835+51_7836-67del (n.7835+51_7836-67del)
c.7832+51_7833-67del (n.7832+51_7833-67del)
c.1287+51_1288-67del
n.7918+51_7919-67del
dbSNP ExAC gnomAD v4
19g.38502777_38502810delCA9415889RYR1c.7835+50_7836-70del (n.7835+50_7836-70del)
c.7832+50_7833-70del (n.7832+50_7833-70del)
c.1287+50_1288-70del
n.7918+50_7919-70del
dbSNP ExAC
19g.38502777_38502816delCA2584900727RYR1c.7835+50_7836-64del (n.7835+50_7836-64del)
c.7832+50_7833-64del (n.7832+50_7833-64del)
c.1287+50_1288-64del
n.7918+50_7919-64del
gnomAD v4
19g.38502778_38502814delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGACA2335054579RYR1c.7835+51_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+51_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.7832+51_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+51_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.1287+51_1288-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA
n.7918+51_7919-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA
19g.38502778_38502831delCA2584900733RYR1c.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
19g.38502795_38502830dupCA995717850RYR1c.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
19g.38502795_38502830delCA9415891RYR1c.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
19g.38502780_38502833delCA2538484218RYR1c.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
19g.38502780_38502810delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGCA2335054585RYR1c.7835+53_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG (n.7835+53_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG)
c.7832+53_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG (n.7832+53_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG)
c.1287+53_1288-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG
n.7918+53_7919-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG
19g.38502784_38502813delCA882054072RYR1c.7835+57_7836-67del (n.7835+57_7836-67del)
c.7832+57_7833-67del (n.7832+57_7833-67del)
c.1287+57_1288-67del
n.7918+57_7919-67del
dbSNP gnomAD v3 gnomAD v4
19g.38502781_38502815delCA2584900738RYR1c.7835+54_7836-65del (n.7835+54_7836-65del)
c.7832+54_7833-65del (n.7832+54_7833-65del)
c.1287+54_1288-65del
n.7918+54_7919-65del
gnomAD v4
19g.38502782_38502815delCA2541113321RYR1c.7835+55_7836-65del (n.7835+55_7836-65del)
c.7832+55_7833-65del (n.7832+55_7833-65del)
c.1287+55_1288-65del
n.7918+55_7919-65del
gnomAD v3 gnomAD v4
19g.38502782_38502830delCA2814347093RYR1c.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
19g.38502784_38502815delCA2584900753RYR1c.7835+57_7836-65del (n.7835+57_7836-65del)
c.7832+57_7833-65del (n.7832+57_7833-65del)
c.1287+57_1288-65del
n.7918+57_7919-65del
gnomAD v4
19g.38502784_38502814delinsGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGACA2335054591RYR1c.7835+57_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+57_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.7832+57_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+57_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.1287+57_1288-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA
n.7918+57_7919-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA
19g.38502801_38502830delCA507353992RYR1c.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
19g.38502786_38502810delinsCAGGGGCAGGGGCAGGGGCAGGGGGCA2335054599RYR1c.7835+59_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGG (n.7835+59_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGG)
c.7832+59_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGG (n.7832+59_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGG)
c.1287+59_1288-70delinsCAGGGGCAGGGGCAGGGGCAGGGGG
n.7918+59_7919-70delinsCAGGGGCAGGGGCAGGGGCAGGGGG
19g.38502813_38502814insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGCA633066273RYR1c.7836-67_7836-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG (n.7836-67_7836-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG)
c.7833-67_7833-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG (n.7833-67_7833-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG)
c.1288-67_1288-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG
n.7919-67_7919-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502813_38502814insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGCA2584900776RYR1c.7836-67_7836-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG (n.7836-67_7836-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG)
c.7833-67_7833-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG (n.7833-67_7833-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG)
c.1288-67_1288-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG
n.7919-67_7919-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG
gnomAD v4
19g.38502813_38502814insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGCA2584900777RYR1c.7836-67_7836-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG (n.7836-67_7836-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG)
c.7833-67_7833-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG (n.7833-67_7833-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG)
c.1288-67_1288-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG
n.7919-67_7919-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG
gnomAD v4
19g.38502790_38502813dupCA995717969RYR1c.7835+63_7836-67dup (n.7835+63_7836-67dup)
c.7832+63_7833-67dup (n.7832+63_7833-67dup)
c.1287+63_1288-67dup
n.7918+63_7919-67dup
gnomAD v3 gnomAD v4
19g.38502790_38502813delCA995717941RYR1c.7835+63_7836-67del (n.7835+63_7836-67del)
c.7832+63_7833-67del (n.7832+63_7833-67del)
c.1287+63_1288-67del
n.7918+63_7919-67del
dbSNP gnomAD v3 gnomAD v4
19g.38502787_38502817delCA2814347126RYR1c.7835+60_7836-63del (n.7835+60_7836-63del)
c.7832+60_7833-63del (n.7832+60_7833-63del)
c.1287+60_1288-63del
n.7918+60_7919-63del
19g.38502787_38502820delCA2814347125RYR1c.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
19g.38502788_38502814delinsGGGGCAGGGGCAGGGGCAGGGGGAGGACA2335054604RYR1c.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.7832+61_7833-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+61_7833-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.1287+61_1288-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA
n.7918+61_7919-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA
19g.38502790_38502821delCA2584900782RYR1c.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
19g.38502788_38502822delinsGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCCA2335054603RYR1c.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
19g.38502790_38502815delCA995718011RYR1c.7835+63_7836-65del (n.7835+63_7836-65del)
c.7832+63_7833-65del (n.7832+63_7833-65del)
c.1287+63_1288-65del
n.7918+63_7919-65del
dbSNP gnomAD v3 gnomAD v4
19g.38502789_38502816delCA2584900786RYR1c.7835+62_7836-64del (n.7835+62_7836-64del)
c.7832+62_7833-64del (n.7832+62_7833-64del)
c.1287+62_1288-64del
n.7918+62_7919-64del
gnomAD v4
19g.38502789_38502822delCA995717994RYR1c.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
19g.38502793_38502840delCA2584900785RYR1c.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
19g.38502790_38502814delinsGGCAGGGGCAGGGGCAGGGGGAGGACA2335054610RYR1c.7835+63_7836-66delinsGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+63_7836-66delinsGGCAGGGGCAGGGGCAGGGGGAGGA)
c.7832+63_7833-66delinsGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+63_7833-66delinsGGCAGGGGCAGGGGCAGGGGGAGGA)
c.1287+63_1288-66delinsGGCAGGGGCAGGGGCAGGGGGAGGA
n.7918+63_7919-66delinsGGCAGGGGCAGGGGCAGGGGGAGGA
19g.38502807_38502830dupCA633066279RYR1c.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
19g.38502807_38502830delCA507353993RYR1c.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
19g.38502792_38502833delCA2584900792RYR1c.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
19g.38502792_38502810delinsCAGGGGCAGGGGCAGGGGGCA2335054615RYR1c.7835+65_7836-70delinsCAGGGGCAGGGGCAGGGGG (n.7835+65_7836-70delinsCAGGGGCAGGGGCAGGGGG)
c.7832+65_7833-70delinsCAGGGGCAGGGGCAGGGGG (n.7832+65_7833-70delinsCAGGGGCAGGGGCAGGGGG)
c.1287+65_1288-70delinsCAGGGGCAGGGGCAGGGGG
n.7918+65_7919-70delinsCAGGGGCAGGGGCAGGGGG
19g.38502796_38502813dupCA995718070RYR1c.7835+69_7836-67dup (n.7835+69_7836-67dup)
c.7832+69_7833-67dup (n.7832+69_7833-67dup)
c.1287+69_1288-67dup
n.7918+69_7919-67dup
dbSNP gnomAD v3 gnomAD v4
19g.38502796_38502813delCA633066281RYR1c.7835+69_7836-67del (n.7835+69_7836-67del)
c.7832+69_7833-67del (n.7832+69_7833-67del)
c.1287+69_1288-67del
n.7918+69_7919-67del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502793_38502817delCA2814347163RYR1c.7835+66_7836-63del (n.7835+66_7836-63del)
c.7832+66_7833-63del (n.7832+66_7833-63del)
c.1287+66_1288-63del
n.7918+66_7919-63del
19g.38502793_38502820delinsAGGGGCAGGGGCAGGGGGAGGAGCAGGGCA2335054617RYR1c.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
19g.38502793_38502823delCA2814347162RYR1c.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
19g.38502793_38502825delCA2584900801RYR1c.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
19g.38502796_38502810delCA2539088332RYR1c.7835+69_7836-70del (n.7835+69_7836-70del)
c.7832+69_7833-70del (n.7832+69_7833-70del)
c.1287+69_1288-70del
n.7918+69_7919-70del
gnomAD v4
19g.38502795_38502810delCA2584900812RYR1c.7835+68_7836-70del (n.7835+68_7836-70del)
c.7832+68_7833-70del (n.7832+68_7833-70del)
c.1287+68_1288-70del
n.7918+68_7919-70del
gnomAD v4
19g.38502794_38502814delinsGGGGCAGGGGCAGGGGGAGGACA2335054623RYR1c.7835+67_7836-66delinsGGGGCAGGGGCAGGGGGAGGA (n.7835+67_7836-66delinsGGGGCAGGGGCAGGGGGAGGA)
c.7832+67_7833-66delinsGGGGCAGGGGCAGGGGGAGGA (n.7832+67_7833-66delinsGGGGCAGGGGCAGGGGGAGGA)
c.1287+67_1288-66delinsGGGGCAGGGGCAGGGGGAGGA
n.7918+67_7919-66delinsGGGGCAGGGGCAGGGGGAGGA
19g.38502795_38502821delCA995718092RYR1c.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
19g.38502794_38502827delCA2584900811RYR1c.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
19g.38502796_38502815delCA633066289RYR1c.7835+69_7836-65del (n.7835+69_7836-65del)
c.7832+69_7833-65del (n.7832+69_7833-65del)
c.1287+69_1288-65del
n.7918+69_7919-65del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502795_38502816delCA995718119RYR1c.7835+68_7836-64del (n.7835+68_7836-64del)
c.7832+68_7833-64del (n.7832+68_7833-64del)
c.1287+68_1288-64del
n.7918+68_7919-64del
gnomAD v3 gnomAD v4
19g.38502795_38502822delCA2584900818RYR1c.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
19g.38502796_38502814delinsGGCAGGGGCAGGGGGAGGACA2335054634RYR1c.7835+69_7836-66delinsGGCAGGGGCAGGGGGAGGA (n.7835+69_7836-66delinsGGCAGGGGCAGGGGGAGGA)
c.7832+69_7833-66delinsGGCAGGGGCAGGGGGAGGA (n.7832+69_7833-66delinsGGCAGGGGCAGGGGGAGGA)
c.1287+69_1288-66delinsGGCAGGGGCAGGGGGAGGA
n.7918+69_7919-66delinsGGCAGGGGCAGGGGGAGGA
19g.38502796_38502831delCA2584900819RYR1c.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
19g.38502810_38502827dupCA633066293RYR1c.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
19g.38502810_38502827delCA507353994RYR1c.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
19g.38502798_38502810delinsCAGGGGCAGGGGGCA2335054642RYR1c.7835+71_7836-70delinsCAGGGGCAGGGGG (n.7835+71_7836-70delinsCAGGGGCAGGGGG)
c.7832+71_7833-70delinsCAGGGGCAGGGGG (n.7832+71_7833-70delinsCAGGGGCAGGGGG)
c.1287+71_1288-70delinsCAGGGGCAGGGGG
n.7918+71_7919-70delinsCAGGGGCAGGGGG
19g.38502798_38502825delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGGCA2335054641RYR1c.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
19g.38502813_38502814insGGGAGGGGCAGGGGGAGGCA2335054649RYR1c.7836-67_7836-66insGGGAGGGGCAGGGGGAGG (n.7836-67_7836-66insGGGAGGGGCAGGGGGAGG)
c.7833-67_7833-66insGGGAGGGGCAGGGGGAGG (n.7833-67_7833-66insGGGAGGGGCAGGGGGAGG)
c.1288-67_1288-66insGGGAGGGGCAGGGGGAGG
n.7919-67_7919-66insGGGAGGGGCAGGGGGAGG
dbSNP gnomAD v4
19g.38502802_38502813dupCA633066296RYR1c.7835+75_7836-67dup (n.7835+75_7836-67dup)
c.7832+75_7833-67dup (n.7832+75_7833-67dup)
c.1287+75_1288-67dup
n.7918+75_7919-67dup
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502802_38502813delCA882054160RYR1c.7835+75_7836-67del (n.7835+75_7836-67del)
c.7832+75_7833-67del (n.7832+75_7833-67del)
c.1287+75_1288-67del
n.7918+75_7919-67del
dbSNP gnomAD v3 gnomAD v4
19g.38502799_38502817delCA2814347221RYR1c.7835+72_7836-63del (n.7835+72_7836-63del)
c.7832+72_7833-63del (n.7832+72_7833-63del)
c.1287+72_1288-63del
n.7918+72_7919-63del
19g.38502799_38502820delinsAGGGGCAGGGGGAGGAGCAGGGCA2335054644RYR1c.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
19g.38502799_38502823delCA2584900843RYR1c.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
19g.38502799_38502825delCA995718158RYR1c.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
19g.38502799_38502828delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCCA2335054643RYR1c.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
19g.38502804_38502810delCA2584900849RYR1c.7836-76_7836-70del (n.7836-76_7836-70del)
c.7833-76_7833-70del (n.7833-76_7833-70del)
c.1288-76_1288-70del
n.7919-76_7919-70del
dbSNP gnomAD v4
19g.38502802_38502810delCA633066300RYR1c.7835+75_7836-70del (n.7835+75_7836-70del)
c.7832+75_7833-70del (n.7832+75_7833-70del)
c.1287+75_1288-70del
n.7918+75_7919-70del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502801_38502810delCA995718209RYR1c.7835+74_7836-70del (n.7835+74_7836-70del)
c.7832+74_7833-70del (n.7832+74_7833-70del)
c.1287+74_1288-70del
n.7918+74_7919-70del
dbSNP gnomAD v3 gnomAD v4
19g.38502801_38502813delCA2584900848RYR1c.7835+74_7836-67del (n.7835+74_7836-67del)
c.7832+74_7833-67del (n.7832+74_7833-67del)
c.1287+74_1288-67del
n.7918+74_7919-67del
gnomAD v4
19g.38502800_38502814delinsGGGGCAGGGGGAGGACA2335054653RYR1c.7835+73_7836-66delinsGGGGCAGGGGGAGGA (n.7835+73_7836-66delinsGGGGCAGGGGGAGGA)
c.7832+73_7833-66delinsGGGGCAGGGGGAGGA (n.7832+73_7833-66delinsGGGGCAGGGGGAGGA)
c.1287+73_1288-66delinsGGGGCAGGGGGAGGA
n.7918+73_7919-66delinsGGGGCAGGGGGAGGA
19g.38502800_38502816delinsGGGGCAGGGGGAGGAGCCA2335054654RYR1c.7835+73_7836-64delinsGGGGCAGGGGGAGGAGC (n.7835+73_7836-64delinsGGGGCAGGGGGAGGAGC)
c.7832+73_7833-64delinsGGGGCAGGGGGAGGAGC (n.7832+73_7833-64delinsGGGGCAGGGGGAGGAGC)
c.1287+73_1288-64delinsGGGGCAGGGGGAGGAGC
n.7918+73_7919-64delinsGGGGCAGGGGGAGGAGC
19g.38502800_38502821delCA2534497867RYR1c.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
19g.38502801_38502821delCA2335054655RYR1c.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
19g.38502800_38502827delCA2584900846RYR1c.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
19g.38502801_38502827delCA2584900847RYR1c.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
19g.38502800_38502828delCA995718225RYR1c.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
19g.38502802_38502815delCA308112897RYR1c.7835+75_7836-65del (n.7835+75_7836-65del)
c.7832+75_7833-65del (n.7832+75_7833-65del)
c.1287+75_1288-65del
n.7918+75_7919-65del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502801_38502816delCA995718234RYR1c.7835+74_7836-64del (n.7835+74_7836-64del)
c.7832+74_7833-64del (n.7832+74_7833-64del)
c.1287+74_1288-64del
n.7918+74_7919-64del
dbSNP gnomAD v3 gnomAD v4
19g.38502801_38502831delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGCCA2335054656RYR1c.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
19g.38502802_38502814delinsGGCAGGGGGAGGACA2335054659RYR1c.7835+75_7836-66delinsGGCAGGGGGAGGA (n.7835+75_7836-66delinsGGCAGGGGGAGGA)
c.7832+75_7833-66delinsGGCAGGGGGAGGA (n.7832+75_7833-66delinsGGCAGGGGGAGGA)
c.1287+75_1288-66delinsGGCAGGGGGAGGA
n.7918+75_7919-66delinsGGCAGGGGGAGGA
19g.38502802_38502831delCA995718238RYR1c.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
19g.38502813_38502814insGGGAGGAGCAGGGGGAGGCA995718259RYR1c.7836-67_7836-66insGGGAGGAGCAGGGGGAGG (n.7836-67_7836-66insGGGAGGAGCAGGGGGAGG)
c.7833-67_7833-66insGGGAGGAGCAGGGGGAGG (n.7833-67_7833-66insGGGAGGAGCAGGGGGAGG)
c.1288-67_1288-66insGGGAGGAGCAGGGGGAGG
n.7919-67_7919-66insGGGAGGAGCAGGGGGAGG
gnomAD v3 gnomAD v4
19g.38502813_38502814insGGCAGGGGGAGGAGCAGGGGGAGGCA2584900864RYR1c.7836-67_7836-66insGGCAGGGGGAGGAGCAGGGGGAGG (n.7836-67_7836-66insGGCAGGGGGAGGAGCAGGGGGAGG)
c.7833-67_7833-66insGGCAGGGGGAGGAGCAGGGGGAGG (n.7833-67_7833-66insGGCAGGGGGAGGAGCAGGGGGAGG)
c.1288-67_1288-66insGGCAGGGGGAGGAGCAGGGGGAGG
n.7919-67_7919-66insGGCAGGGGGAGGAGCAGGGGGAGG
gnomAD v4
19g.38502813_38502814insGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGCA2584900863RYR1c.7836-67_7836-66insGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGG (n.7836-67_7836-66insGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGG)
c.7833-67_7833-66insGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGG (n.7833-67_7833-66insGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGG)
c.1288-67_1288-66insGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGG
n.7919-67_7919-66insGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGG
gnomAD v4
19g.38502821_38502822insGAGGAGCAGGGGGAGGAGCAGGGGCA2584900862RYR1c.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
19g.38502821_38502822insGAGGAGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGGCA2535608033RYR1c.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
19g.38502810_38502821dupCA633066304RYR1c.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
19g.38502810_38502821delCA633066307RYR1c.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
19g.38502827_38502828insGAGGAGCAGGGGGAGGAGCAGGGGCAGGGGCA2584900861RYR1c.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
19g.38502804_38502810delinsCAGGGGGCA2335054663RYR1c.7836-76_7836-70delinsCAGGGGG (n.7836-76_7836-70delinsCAGGGGG)
c.7833-76_7833-70delinsCAGGGGG (n.7833-76_7833-70delinsCAGGGGG)
c.1288-76_1288-70delinsCAGGGGG
n.7919-76_7919-70delinsCAGGGGG
19g.38502804_38502816delCA2584900888RYR1c.7836-76_7836-64del (n.7836-76_7836-64del)
c.7833-76_7833-64del (n.7833-76_7833-64del)
c.1288-76_1288-64del
n.7919-76_7919-64del
gnomAD v4
19g.38502804_38502825delinsCAGGGGGAGGAGCAGGGGCAGGCA2335054661RYR1c.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
19g.38502810_38502811insGGGGGCAGGGGGAGGGGGAGGGGGCA2584900893RYR1c.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG (n.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG)
c.7833-70_7833-69insGGGGGCAGGGGGAGGGGGAGGGGG (n.7833-70_7833-69insGGGGGCAGGGGGAGGGGGAGGGGG)
c.1288-70_1288-69insGGGGGCAGGGGGAGGGGGAGGGGG
n.7919-70_7919-69insGGGGGCAGGGGGAGGGGGAGGGGG
gnomAD v4
19g.38502813_38502814insGGGAGGGGGAGGCA882054212RYR1c.7836-67_7836-66insGGGAGGGGGAGG (n.7836-67_7836-66insGGGAGGGGGAGG)
c.7833-67_7833-66insGGGAGGGGGAGG (n.7833-67_7833-66insGGGAGGGGGAGG)
c.1288-67_1288-66insGGGAGGGGGAGG
n.7919-67_7919-66insGGGAGGGGGAGG
dbSNP gnomAD v4
19g.38502813_38502814insGGGAGGAGGAGGGGGAGGCA2584900891RYR1c.7836-67_7836-66insGGGAGGAGGAGGGGGAGG (n.7836-67_7836-66insGGGAGGAGGAGGGGGAGG)
c.7833-67_7833-66insGGGAGGAGGAGGGGGAGG (n.7833-67_7833-66insGGGAGGAGGAGGGGGAGG)
c.1288-67_1288-66insGGGAGGAGGAGGGGGAGG
n.7919-67_7919-66insGGGAGGAGGAGGGGGAGG
gnomAD v4
19g.38502813_38502814insGGGAGGGGGAGGGGGAGGCA2584900892RYR1c.7836-67_7836-66insGGGAGGGGGAGGGGGAGG (n.7836-67_7836-66insGGGAGGGGGAGGGGGAGG)
c.7833-67_7833-66insGGGAGGGGGAGGGGGAGG (n.7833-67_7833-66insGGGAGGGGGAGGGGGAGG)
c.1288-67_1288-66insGGGAGGGGGAGGGGGAGG
n.7919-67_7919-66insGGGAGGGGGAGGGGGAGG
gnomAD v4
19g.38502813_38502814insGGCAGGGGGAGGGGGAGGGGGAGGCA2814347267RYR1c.7836-67_7836-66insGGCAGGGGGAGGGGGAGGGGGAGG (n.7836-67_7836-66insGGCAGGGGGAGGGGGAGGGGGAGG)
c.7833-67_7833-66insGGCAGGGGGAGGGGGAGGGGGAGG (n.7833-67_7833-66insGGCAGGGGGAGGGGGAGGGGGAGG)
c.1288-67_1288-66insGGCAGGGGGAGGGGGAGGGGGAGG
n.7919-67_7919-66insGGCAGGGGGAGGGGGAGGGGGAGG
19g.38502808_38502813dupCA633066312RYR1c.7836-72_7836-67dup (n.7836-72_7836-67dup)
c.7833-72_7833-67dup (n.7833-72_7833-67dup)
c.1288-72_1288-67dup
n.7919-72_7919-67dup
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502808_38502813delCA633066309RYR1c.7836-72_7836-67del (n.7836-72_7836-67del)
c.7833-72_7833-67del (n.7833-72_7833-67del)
c.1288-72_1288-67del
n.7919-72_7919-67del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502807_38502815delCA2584900895RYR1c.7836-73_7836-65del (n.7836-73_7836-65del)
c.7833-73_7833-65del (n.7833-73_7833-65del)
c.1288-73_1288-65del
n.7919-73_7919-65del
gnomAD v4
19g.38502805_38502819delCA2584900896RYR1c.7836-75_7836-61del (n.7836-75_7836-61del)
c.7833-75_7833-61del (n.7833-75_7833-61del)
c.1288-75_1288-61del
n.7919-75_7919-61del
gnomAD v4
19g.38502805_38502825delCA995718305RYR1c.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
19g.38502806_38502810delCA995718362RYR1c.7836-74_7836-70del (n.7836-74_7836-70del)
c.7833-74_7833-70del (n.7833-74_7833-70del)
c.1288-74_1288-70del
n.7919-74_7919-70del
gnomAD v3 gnomAD v4
19g.38502810_38502811insGGGGGGCA2584900918RYR1c.7836-70_7836-69insGGGGGG (n.7836-70_7836-69insGGGGGG)
c.7833-70_7833-69insGGGGGG (n.7833-70_7833-69insGGGGGG)
c.1288-70_1288-69insGGGGGG
n.7919-70_7919-69insGGGGGG
gnomAD v4
19g.38502810delCA995718360RYR1c.7836-70del (n.7836-70del)
c.7833-70del (n.7833-70del)
c.1288-70del
n.7919-70del
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810delCA995718361RYR1c.7836-71_7836-70del (n.7836-71_7836-70del)
c.7833-71_7833-70del (n.7833-71_7833-70del)
c.1288-71_1288-70del
n.7919-71_7919-70del
dbSNP gnomAD v3 gnomAD v4
19g.38502808_38502810delCA2584900917RYR1c.7836-72_7836-70del (n.7836-72_7836-70del)
c.7833-72_7833-70del (n.7833-72_7833-70del)
c.1288-72_1288-70del
n.7919-72_7919-70del
gnomAD v4
19g.38502807_38502810delCA2584900916RYR1c.7836-73_7836-70del (n.7836-73_7836-70del)
c.7833-73_7833-70del (n.7833-73_7833-70del)
c.1288-73_1288-70del
n.7919-73_7919-70del
gnomAD v4
19g.38502806_38502814delinsGGGGGAGGACA2335054666RYR1c.7836-74_7836-66delinsGGGGGAGGA (n.7836-74_7836-66delinsGGGGGAGGA)
c.7833-74_7833-66delinsGGGGGAGGA (n.7833-74_7833-66delinsGGGGGAGGA)
c.1288-74_1288-66delinsGGGGGAGGA
n.7919-74_7919-66delinsGGGGGAGGA
19g.38502809_38502827delCA2584900912RYR1c.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
19g.38502807_38502827delCA995718364RYR1c.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
19g.38502806_38502831delCA2584900913RYR1c.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
19g.38502808_38502815delCA633066314RYR1c.7836-72_7836-65del (n.7836-72_7836-65del)
c.7833-72_7833-65del (n.7833-72_7833-65del)
c.1288-72_1288-65del
n.7919-72_7919-65del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502807_38502816delCA633066313RYR1c.7836-73_7836-64del (n.7836-73_7836-64del)
c.7833-73_7833-64del (n.7833-73_7833-64del)
c.1288-73_1288-64del
n.7919-73_7919-64del
gnomAD v2 gnomAD v3 gnomAD v4
19g.38502811_38502827delCA2584900920RYR1c.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
19g.38502807_38502828delCA2814347278RYR1c.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
19g.38502807_38502831delinsGGGGAGGAGCAGGGGCAGGGGCAGCCA2335054669RYR1c.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
19g.38502808_38502814delinsGGGAGGACA2335054674RYR1c.7836-72_7836-66delinsGGGAGGA (n.7836-72_7836-66delinsGGGAGGA)
c.7833-72_7833-66delinsGGGAGGA (n.7833-72_7833-66delinsGGGAGGA)
c.1288-72_1288-66delinsGGGAGGA
n.7919-72_7919-66delinsGGGAGGA
19g.38502809_38502815delCA2584900922RYR1c.7836-71_7836-65del (n.7836-71_7836-65del)
c.7833-71_7833-65del (n.7833-71_7833-65del)
c.1288-71_1288-65del
n.7919-71_7919-65del
gnomAD v4
19g.38502808_38502816delinsGGGAGGAGCCA2335054673RYR1c.7836-72_7836-64delinsGGGAGGAGC (n.7836-72_7836-64delinsGGGAGGAGC)
c.7833-72_7833-64delinsGGGAGGAGC (n.7833-72_7833-64delinsGGGAGGAGC)
c.1288-72_1288-64delinsGGGAGGAGC
n.7919-72_7919-64delinsGGGAGGAGC
19g.38502818_38502819insTGGGAGGAGCAGCA2584900923RYR1c.7836-62_7836-61insTGGGAGGAGCAG (n.7836-62_7836-61insTGGGAGGAGCAG)
c.7833-62_7833-61insTGGGAGGAGCAG (n.7833-62_7833-61insTGGGAGGAGCAG)
c.1288-62_1288-61insTGGGAGGAGCAG
n.7919-62_7919-61insTGGGAGGAGCAG
gnomAD v4
19g.38502808_38502829delinsGGGAGGAGCAGGGGCAGGGGCACA2335054670RYR1c.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
19g.38502808_38502831delCA920105621RYR1c.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
19g.38502809_38502814delinsGGAGGACA2335054677RYR1c.7836-71_7836-66delinsGGAGGA (n.7836-71_7836-66delinsGGAGGA)
c.7833-71_7833-66delinsGGAGGA (n.7833-71_7833-66delinsGGAGGA)
c.1288-71_1288-66delinsGGAGGA
n.7919-71_7919-66delinsGGAGGA
19g.38502813_38502815dupCA2335054682RYR1c.7836-67_7836-65dup (n.7836-67_7836-65dup)
c.7833-67_7833-65dup (n.7833-67_7833-65dup)
c.1288-67_1288-65dup
n.7919-67_7919-65dup
dbSNP gnomAD v4
19g.38502810_38502815dupCA2584900929RYR1c.7836-70_7836-65dup (n.7836-70_7836-65dup)
c.7833-70_7833-65dup (n.7833-70_7833-65dup)
c.1288-70_1288-65dup
n.7919-70_7919-65dup
gnomAD v4
19g.38502813_38502815delCA2335054681RYR1c.7836-67_7836-65del (n.7836-67_7836-65del)
c.7833-67_7833-65del (n.7833-67_7833-65del)
c.1288-67_1288-65del
n.7919-67_7919-65del
dbSNP gnomAD v4
19g.38502810_38502815delCA308112961RYR1c.7836-70_7836-65del (n.7836-70_7836-65del)
c.7833-70_7833-65del (n.7833-70_7833-65del)
c.1288-70_1288-65del
n.7919-70_7919-65del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502809_38502816delCA308112957RYR1c.7836-71_7836-64del (n.7836-71_7836-64del)
c.7833-71_7833-64del (n.7833-71_7833-64del)
c.1288-71_1288-64del
n.7919-71_7919-64del
dbSNP
19g.38502809_38502816delinsGGAGGAGCCA2335054675RYR1c.7836-71_7836-64delinsGGAGGAGC (n.7836-71_7836-64delinsGGAGGAGC)
c.7833-71_7833-64delinsGGAGGAGC (n.7833-71_7833-64delinsGGAGGAGC)
c.1288-71_1288-64delinsGGAGGAGC
n.7919-71_7919-64delinsGGAGGAGC
19g.38502819_38502820insAGGAGGAGCAGGCA2584900928RYR1c.7836-61_7836-60insAGGAGGAGCAGG (n.7836-61_7836-60insAGGAGGAGCAGG)
c.7833-61_7833-60insAGGAGGAGCAGG (n.7833-61_7833-60insAGGAGGAGCAGG)
c.1288-61_1288-60insAGGAGGAGCAGG
n.7919-61_7919-60insAGGAGGAGCAGG
gnomAD v4
19g.38502810_38502830delCA995718415RYR1c.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
19g.38502810G>ACA882054240RYR1c.7836-70G>A (n.7836-70G>A)
c.7833-70G>A (n.7833-70G>A)
c.1288-70G>A
n.7919-70G>A
dbSNP gnomAD v4
19g.38502810G>CCA024863RYR1c.7836-70G>C (n.7836-70G>C)
c.7833-70G>C (n.7833-70G>C)
c.1288-70G>C
n.7919-70G>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502810G=CA2335054684RYR1c.7836-70G= (n.7836-70G=)
c.7833-70G= (n.7833-70G=)
c.1288-70G=
n.7919-70G=
19g.38502810G>TCA882054241RYR1c.7836-70G>T (n.7836-70G>T)
c.7833-70G>T (n.7833-70G>T)
c.1288-70G>T
n.7919-70G>T
dbSNP gnomAD v3 gnomAD v4
19g.38502811_38502815delCA920105622RYR1c.7836-69_7836-65del (n.7836-69_7836-65del)
c.7833-69_7833-65del (n.7833-69_7833-65del)
c.1288-69_1288-65del
n.7919-69_7919-65del
dbSNP gnomAD v4
19g.38502810_38502816delCA2335054688RYR1c.7836-70_7836-64del (n.7836-70_7836-64del)
c.7833-70_7833-64del (n.7833-70_7833-64del)
c.1288-70_1288-64del
n.7919-70_7919-64del
dbSNP gnomAD v4
19g.38502810_38502816delinsGAGGAGCCA2335054686RYR1c.7836-70_7836-64delinsGAGGAGC (n.7836-70_7836-64delinsGAGGAGC)
c.7833-70_7833-64delinsGAGGAGC (n.7833-70_7833-64delinsGAGGAGC)
c.1288-70_1288-64delinsGAGGAGC
n.7919-70_7919-64delinsGAGGAGC
19g.38502810_38502822delinsGAGGAGCAGGGGCCA2335054685RYR1c.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
19g.38502810_38502828delinsGAGGAGCAGGGGCAGGGGCCA2335054683RYR1c.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
19g.38502810_38502811insCCA2576771133RYR1c.7836-70_7836-69insC (n.7836-70_7836-69insC)
c.7833-70_7833-69insC (n.7833-70_7833-69insC)
c.1288-70_1288-69insC
n.7919-70_7919-69insC
19g.38502810_38502811insGCCA2584900948RYR1c.7836-70_7836-69insGC (n.7836-70_7836-69insGC)
c.7833-70_7833-69insGC (n.7833-70_7833-69insGC)
c.1288-70_1288-69insGC
n.7919-70_7919-69insGC
gnomAD v4
19g.38502810_38502811insGAGCCA995718518RYR1c.7836-70_7836-69insGAGC (n.7836-70_7836-69insGAGC)
c.7833-70_7833-69insGAGC (n.7833-70_7833-69insGAGC)
c.1288-70_1288-69insGAGC
n.7919-70_7919-69insGAGC
dbSNP gnomAD v3 gnomAD v4
19g.38502810_38502811insGGGACA2584900950RYR1c.7836-70_7836-69insGGGA (n.7836-70_7836-69insGGGA)
c.7833-70_7833-69insGGGA (n.7833-70_7833-69insGGGA)
c.1288-70_1288-69insGGGA
n.7919-70_7919-69insGGGA
gnomAD v4
19g.38502810_38502811insGGGCCA633066319RYR1c.7836-70_7836-69insGGGC (n.7836-70_7836-69insGGGC)
c.7833-70_7833-69insGGGC (n.7833-70_7833-69insGGGC)
c.1288-70_1288-69insGGGC
n.7919-70_7919-69insGGGC
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502810_38502811insGAGCAGGAGCCA995718507RYR1c.7836-70_7836-69insGAGCAGGAGC (n.7836-70_7836-69insGAGCAGGAGC)
c.7833-70_7833-69insGAGCAGGAGC (n.7833-70_7833-69insGAGCAGGAGC)
c.1288-70_1288-69insGAGCAGGAGC
n.7919-70_7919-69insGAGCAGGAGC
dbSNP gnomAD v3 gnomAD v4
19g.38502810_38502811insGAGCAGGGGCCA2584900947RYR1c.7836-70_7836-69insGAGCAGGGGC (n.7836-70_7836-69insGAGCAGGGGC)
c.7833-70_7833-69insGAGCAGGGGC (n.7833-70_7833-69insGAGCAGGGGC)
c.1288-70_1288-69insGAGCAGGGGC
n.7919-70_7919-69insGAGCAGGGGC
gnomAD v4
19g.38502810_38502811insGGACAGGGGCCA2584900949RYR1c.7836-70_7836-69insGGACAGGGGC (n.7836-70_7836-69insGGACAGGGGC)
c.7833-70_7833-69insGGACAGGGGC (n.7833-70_7833-69insGGACAGGGGC)
c.1288-70_1288-69insGGACAGGGGC
n.7919-70_7919-69insGGACAGGGGC
gnomAD v4
19g.38502810_38502811insGGGCAGGAGCCA995718502RYR1c.7836-70_7836-69insGGGCAGGAGC (n.7836-70_7836-69insGGGCAGGAGC)
c.7833-70_7833-69insGGGCAGGAGC (n.7833-70_7833-69insGGGCAGGAGC)
c.1288-70_1288-69insGGGCAGGAGC
n.7919-70_7919-69insGGGCAGGAGC
dbSNP gnomAD v3 gnomAD v4
19g.38502810_38502811insGGGCAGGGGCCA633066320RYR1c.7836-70_7836-69insGGGCAGGGGC (n.7836-70_7836-69insGGGCAGGGGC)
c.7833-70_7833-69insGGGCAGGGGC (n.7833-70_7833-69insGGGCAGGGGC)
c.1288-70_1288-69insGGGCAGGGGC
n.7919-70_7919-69insGGGCAGGGGC
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502810_38502811insGGGCAGGGGGACA2584900943RYR1c.7836-70_7836-69insGGGCAGGGGGA (n.7836-70_7836-69insGGGCAGGGGGA)
c.7833-70_7833-69insGGGCAGGGGGA (n.7833-70_7833-69insGGGCAGGGGGA)
c.1288-70_1288-69insGGGCAGGGGGA
n.7919-70_7919-69insGGGCAGGGGGA
gnomAD v4
19g.38502810_38502811insGAGCAGGAGCAGGAGCCA2584900946RYR1c.7836-70_7836-69insGAGCAGGAGCAGGAGC (n.7836-70_7836-69insGAGCAGGAGCAGGAGC)
c.7833-70_7833-69insGAGCAGGAGCAGGAGC (n.7833-70_7833-69insGAGCAGGAGCAGGAGC)
c.1288-70_1288-69insGAGCAGGAGCAGGAGC
n.7919-70_7919-69insGAGCAGGAGCAGGAGC
gnomAD v4
19g.38502810_38502811insGGGCAGGAGCAGGGGCCA2584900955RYR1c.7836-70_7836-69insGGGCAGGAGCAGGGGC (n.7836-70_7836-69insGGGCAGGAGCAGGGGC)
c.7833-70_7833-69insGGGCAGGAGCAGGGGC (n.7833-70_7833-69insGGGCAGGAGCAGGGGC)
c.1288-70_1288-69insGGGCAGGAGCAGGGGC
n.7919-70_7919-69insGGGCAGGAGCAGGGGC
gnomAD v4
19g.38502810_38502811insGGGCAGGGGCAGGAGCCA2584900954RYR1c.7836-70_7836-69insGGGCAGGGGCAGGAGC (n.7836-70_7836-69insGGGCAGGGGCAGGAGC)
c.7833-70_7833-69insGGGCAGGGGCAGGAGC (n.7833-70_7833-69insGGGCAGGGGCAGGAGC)
c.1288-70_1288-69insGGGCAGGGGCAGGAGC
n.7919-70_7919-69insGGGCAGGGGCAGGAGC
gnomAD v4
19g.38502810_38502811insGGGCAGGGGCAGGGGCCA633066321RYR1c.7836-70_7836-69insGGGCAGGGGCAGGGGC (n.7836-70_7836-69insGGGCAGGGGCAGGGGC)
c.7833-70_7833-69insGGGCAGGGGCAGGGGC (n.7833-70_7833-69insGGGCAGGGGCAGGGGC)
c.1288-70_1288-69insGGGCAGGGGCAGGGGC
n.7919-70_7919-69insGGGCAGGGGCAGGGGC
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502810_38502811insGGGCAGGGGCAGGGGCAGGGGACA2584900951RYR1c.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGA (n.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGA)
c.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGA (n.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGA)
c.1288-70_1288-69insGGGCAGGGGCAGGGGCAGGGGA
n.7919-70_7919-69insGGGCAGGGGCAGGGGCAGGGGA
gnomAD v4
19g.38502810_38502811insGGGGAGGAGCAGGGGCAGGGGCCA2584900945RYR1c.7836-70_7836-69insGGGGAGGAGCAGGGGCAGGGGC (n.7836-70_7836-69insGGGGAGGAGCAGGGGCAGGGGC)
c.7833-70_7833-69insGGGGAGGAGCAGGGGCAGGGGC (n.7833-70_7833-69insGGGGAGGAGCAGGGGCAGGGGC)
c.1288-70_1288-69insGGGGAGGAGCAGGGGCAGGGGC
n.7919-70_7919-69insGGGGAGGAGCAGGGGCAGGGGC
gnomAD v4
19g.38502810_38502811insGGGCAGGAGCAGGGGCAGGGGCCA995718501RYR1c.7836-70_7836-69insGGGCAGGAGCAGGGGCAGGGGC (n.7836-70_7836-69insGGGCAGGAGCAGGGGCAGGGGC)
c.7833-70_7833-69insGGGCAGGAGCAGGGGCAGGGGC (n.7833-70_7833-69insGGGCAGGAGCAGGGGCAGGGGC)
c.1288-70_1288-69insGGGCAGGAGCAGGGGCAGGGGC
n.7919-70_7919-69insGGGCAGGAGCAGGGGCAGGGGC
dbSNP gnomAD v3 gnomAD v4
19g.38502810_38502811insGGGCAGGGGCAGGGGCAGGAGCCA2584900953RYR1c.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGAGC (n.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGAGC)
c.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGAGC (n.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGAGC)
c.1288-70_1288-69insGGGCAGGGGCAGGGGCAGGAGC
n.7919-70_7919-69insGGGCAGGGGCAGGGGCAGGAGC
gnomAD v4
19g.38502810_38502811insGGGCAGGGGCAGGGGCAGGGGCCA920105624RYR1c.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGC (n.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGC)
c.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGC (n.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGC)
c.1288-70_1288-69insGGGCAGGGGCAGGGGCAGGGGC
n.7919-70_7919-69insGGGCAGGGGCAGGGGCAGGGGC
dbSNP gnomAD v3 gnomAD v4
19g.38502810_38502811insGGGCAGGGGCAGGGGCAGGGGGAGGAGCCA2584900942RYR1c.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGGAGGAGC (n.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGGAGGAGC)
c.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGGAGGAGC (n.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGGAGGAGC)
c.1288-70_1288-69insGGGCAGGGGCAGGGGCAGGGGGAGGAGC
n.7919-70_7919-69insGGGCAGGGGCAGGGGCAGGGGGAGGAGC
gnomAD v4
19g.38502810_38502811insGGGCAGGGGCAGGGGCAGGGGCAGGGGCCA995718497RYR1c.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGC)
c.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGC)
c.1288-70_1288-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGC
n.7919-70_7919-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGC
dbSNP gnomAD v3 gnomAD v4
19g.38502810_38502811insGGGCAGGGGCAGGGGCAGGGGCAGGAGCCA2584900937RYR1c.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGAGC (n.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGAGC)
c.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGAGC (n.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGAGC)
c.1288-70_1288-69insGGGCAGGGGCAGGGGCAGGGGCAGGAGC
n.7919-70_7919-69insGGGCAGGGGCAGGGGCAGGGGCAGGAGC
gnomAD v4
19g.38502810_38502811insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCCA995718495RYR1c.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC)
c.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC)
c.1288-70_1288-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC
n.7919-70_7919-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC
gnomAD v3 gnomAD v4
19g.38502810_38502811insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGAGCCA2584900938RYR1c.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGAGC (n.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGAGC)
c.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGAGC (n.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGAGC)
c.1288-70_1288-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGAGC
n.7919-70_7919-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGAGC
gnomAD v4
19g.38502810_38502811insGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGGCCA2584900944RYR1c.7836-70_7836-69insGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGGC (n.7836-70_7836-69insGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGGC)
c.7833-70_7833-69insGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGGC (n.7833-70_7833-69insGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGGC)
c.1288-70_1288-69insGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGGC
n.7919-70_7919-69insGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGGC
gnomAD v4
19g.38502810_38502811insGGGCAGGGGCAGGGGCAGGCGCAGGGGCAGGGGCAGGGGCCA2584900952RYR1c.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGCGCAGGGGCAGGGGCAGGGGC (n.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGCGCAGGGGCAGGGGCAGGGGC)
c.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGCGCAGGGGCAGGGGCAGGGGC (n.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGCGCAGGGGCAGGGGCAGGGGC)
c.1288-70_1288-69insGGGCAGGGGCAGGGGCAGGCGCAGGGGCAGGGGCAGGGGC
n.7919-70_7919-69insGGGCAGGGGCAGGGGCAGGCGCAGGGGCAGGGGCAGGGGC
gnomAD v4
19g.38502810_38502811insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCCA995718494RYR1c.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC)
c.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC)
c.1288-70_1288-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC
n.7919-70_7919-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC
gnomAD v3 gnomAD v4
19g.38502810_38502811insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCCA2584900939RYR1c.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC)
c.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC)
c.1288-70_1288-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC
n.7919-70_7919-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC
gnomAD v4
19g.38502810_38502811insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCCA2584900940RYR1c.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC)
c.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC)
c.1288-70_1288-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC
n.7919-70_7919-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC
gnomAD v4
19g.38502810_38502811insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCCA2584900941RYR1c.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC)
c.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC)
c.1288-70_1288-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC
n.7919-70_7919-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC
gnomAD v4
19g.38502811delCA2582145387RYR1c.7836-69del (n.7836-69del)
c.7833-69del (n.7833-69del)
c.1288-69del
n.7919-69del
gnomAD v4
19g.38502811A=CA2335054690RYR1c.7836-69A= (n.7836-69A=)
c.7833-69A= (n.7833-69A=)
c.1288-69A=
n.7919-69A=
19g.38502811A>CCA2517146258RYR1c.7836-69A>C (n.7836-69A>C)
c.7833-69A>C (n.7833-69A>C)
c.1288-69A>C
n.7919-69A>C
gnomAD v4
19g.38502811A>GCA995718489RYR1c.7836-69A>G (n.7836-69A>G)
c.7833-69A>G (n.7833-69A>G)
c.1288-69A>G
n.7919-69A>G
dbSNP gnomAD v3 gnomAD v4
19g.38502811dupCA2576771131RYR1c.7836-69dup (n.7836-69dup)
c.7833-69dup (n.7833-69dup)
c.1288-69dup
n.7919-69dup
gnomAD v4
19g.38502812_38502813insCAGCA2576771132RYR1c.7836-68_7836-67insCAG (n.7836-68_7836-67insCAG)
c.7833-68_7833-67insCAG (n.7833-68_7833-67insCAG)
c.1288-68_1288-67insCAG
n.7919-68_7919-67insCAG
gnomAD v4
19g.38502813_38502814insGGCAGGGGGAGGAGCAGGCA2335054691RYR1c.7836-67_7836-66insGGCAGGGGGAGGAGCAGG (n.7836-67_7836-66insGGCAGGGGGAGGAGCAGG)
c.7833-67_7833-66insGGCAGGGGGAGGAGCAGG (n.7833-67_7833-66insGGCAGGGGGAGGAGCAGG)
c.1288-67_1288-66insGGCAGGGGGAGGAGCAGG
n.7919-67_7919-66insGGCAGGGGGAGGAGCAGG
dbSNP
19g.38502811_38502815delinsAGGAGCA2335054689RYR1c.7836-69_7836-65delinsAGGAG (n.7836-69_7836-65delinsAGGAG)
c.7833-69_7833-65delinsAGGAG (n.7833-69_7833-65delinsAGGAG)
c.1288-69_1288-65delinsAGGAG
n.7919-69_7919-65delinsAGGAG
19g.38502814_38502819delCA633066318RYR1c.7836-66_7836-61del (n.7836-66_7836-61del)
c.7833-66_7833-61del (n.7833-66_7833-61del)
c.1288-66_1288-61del
n.7919-66_7919-61del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502814_38502825delCA882054252RYR1c.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
19g.38502813_38502830delCA995718486RYR1c.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
19g.38502811_38502812insAGGGCA2554611773RYR1c.7836-69_7836-68insAGGG (n.7836-69_7836-68insAGGG)
c.7833-69_7833-68insAGGG (n.7833-69_7833-68insAGGG)
c.1288-69_1288-68insAGGG
n.7919-69_7919-68insAGGG
gnomAD v4
19g.38502812G>ACA2576771134RYR1c.7836-68G>A (n.7836-68G>A)
c.7833-68G>A (n.7833-68G>A)
c.1288-68G>A
n.7919-68G>A
gnomAD v4
19g.38502813_38502814insGGGCA633066322RYR1c.7836-67_7836-66insGGG (n.7836-67_7836-66insGGG)
c.7833-67_7833-66insGGG (n.7833-67_7833-66insGGG)
c.1288-67_1288-66insGGG
n.7919-67_7919-66insGGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502813_38502814insGGGCGGGGGCA2584900957RYR1c.7836-67_7836-66insGGGCGGGGG (n.7836-67_7836-66insGGGCGGGGG)
c.7833-67_7833-66insGGGCGGGGG (n.7833-67_7833-66insGGGCGGGGG)
c.1288-67_1288-66insGGGCGGGGG
n.7919-67_7919-66insGGGCGGGGG
gnomAD v4
19g.38502813_38502814insGGGGGGGGGCA995718530RYR1c.7836-67_7836-66insGGGGGGGGG (n.7836-67_7836-66insGGGGGGGGG)
c.7833-67_7833-66insGGGGGGGGG (n.7833-67_7833-66insGGGGGGGGG)
c.1288-67_1288-66insGGGGGGGGG
n.7919-67_7919-66insGGGGGGGGG
gnomAD v3 gnomAD v4
19g.38502813_38502814insGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGCA2814347311RYR1c.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGG (n.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGG)
c.7833-67_7833-66insGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGG (n.7833-67_7833-66insGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGG)
c.1288-67_1288-66insGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGG
n.7919-67_7919-66insGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGG
19g.38502813dupCA2584900956RYR1c.7836-67dup (n.7836-67dup)
c.7833-67dup (n.7833-67dup)
c.1288-67dup
n.7919-67dup
gnomAD v4
19g.38502812_38502814delinsGGACA2335054692RYR1c.7836-68_7836-66delinsGGA (n.7836-68_7836-66delinsGGA)
c.7833-68_7833-66delinsGGA (n.7833-68_7833-66delinsGGA)
c.1288-68_1288-66delinsGGA
n.7919-68_7919-66delinsGGA
19g.38502812_38502815delCA995718533RYR1c.7836-68_7836-65del (n.7836-68_7836-65del)
c.7833-68_7833-65del (n.7833-68_7833-65del)
c.1288-68_1288-65del
n.7919-68_7919-65del
dbSNP gnomAD v3 gnomAD v4
19g.38502814_38502820delCA2584900958RYR1c.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
19g.38502813_38502827delCA2584900959RYR1c.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
19g.38502813G>ACA633066323RYR1c.7836-67G>A (n.7836-67G>A)
c.7833-67G>A (n.7833-67G>A)
c.1288-67G>A
n.7919-67G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502813G>CCA633066324RYR1c.7836-67G>C (n.7836-67G>C)
c.7833-67G>C (n.7833-67G>C)
c.1288-67G>C
n.7919-67G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502813G=CA2335054694RYR1c.7836-67G= (n.7836-67G=)
c.7833-67G= (n.7833-67G=)
c.1288-67G=
n.7919-67G=
19g.38502813G>TCA2584900960RYR1c.7836-67G>T (n.7836-67G>T)
c.7833-67G>T (n.7833-67G>T)
c.1288-67G>T
n.7919-67G>T
gnomAD v4
19g.38502813_38502814insGCCTGCAACTTCCTTCTGCA2814347313RYR1c.7836-67_7836-66insGCCTGCAACTTCCTTCTG (n.7836-67_7836-66insGCCTGCAACTTCCTTCTG)
c.7833-67_7833-66insGCCTGCAACTTCCTTCTG (n.7833-67_7833-66insGCCTGCAACTTCCTTCTG)
c.1288-67_1288-66insGCCTGCAACTTCCTTCTG
n.7919-67_7919-66insGCCTGCAACTTCCTTCTG
19g.38502814_38502815delCA2335054696RYR1c.7836-66_7836-65del (n.7836-66_7836-65del)
c.7833-66_7833-65del (n.7833-66_7833-65del)
c.1288-66_1288-65del
n.7919-66_7919-65del
dbSNP
19g.38502813_38502817delinsGAGCACA2335054695RYR1c.7836-67_7836-63delinsGAGCA (n.7836-67_7836-63delinsGAGCA)
c.7833-67_7833-63delinsGAGCA (n.7833-67_7833-63delinsGAGCA)
c.1288-67_1288-63delinsGAGCA
n.7919-67_7919-63delinsGAGCA
19g.38502813_38502831delinsGAGCAGGGGCAGGGGCAGCCA2335054693RYR1c.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
19g.38502813_38502814insGGCCA633066326RYR1c.7836-67_7836-66insGGC (n.7836-67_7836-66insGGC)
c.7833-67_7833-66insGGC (n.7833-67_7833-66insGGC)
c.1288-67_1288-66insGGC
n.7919-67_7919-66insGGC
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502813_38502814insGGTTCA2543880972RYR1c.7836-67_7836-66insGGTT (n.7836-67_7836-66insGGTT)
c.7833-67_7833-66insGGTT (n.7833-67_7833-66insGGTT)
c.1288-67_1288-66insGGTT
n.7919-67_7919-66insGGTT
19g.38502813_38502814insGGCAGCCA2533757468RYR1c.7836-67_7836-66insGGCAGC (n.7836-67_7836-66insGGCAGC)
c.7833-67_7833-66insGGCAGC (n.7833-67_7833-66insGGCAGC)
c.1288-67_1288-66insGGCAGC
n.7919-67_7919-66insGGCAGC
19g.38502813_38502814insGGGAGGGGCAGGGGCCA2584900961RYR1c.7836-67_7836-66insGGGAGGGGCAGGGGC (n.7836-67_7836-66insGGGAGGGGCAGGGGC)
c.7833-67_7833-66insGGGAGGGGCAGGGGC (n.7833-67_7833-66insGGGAGGGGCAGGGGC)
c.1288-67_1288-66insGGGAGGGGCAGGGGC
n.7919-67_7919-66insGGGAGGGGCAGGGGC
gnomAD v4
19g.38502813_38502814insGGGAGGGGGAGGGGGAGGGGCAGGGGCCA2584900964RYR1c.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC (n.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC)
c.7833-67_7833-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC (n.7833-67_7833-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC)
c.1288-67_1288-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC
n.7919-67_7919-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC
gnomAD v4
19g.38502814delCA2584900962RYR1c.7836-66del (n.7836-66del)
c.7833-66del (n.7833-66del)
c.1288-66del
n.7919-66del
gnomAD v4
19g.38502814A=CA2335054697RYR1c.7836-66A= (n.7836-66A=)
c.7833-66A= (n.7833-66A=)
c.1288-66A=
n.7919-66A=
19g.38502814A>CCA2581382508RYR1c.7836-66A>C (n.7836-66A>C)
c.7833-66A>C (n.7833-66A>C)
c.1288-66A>C
n.7919-66A>C
19g.38502814A>GCA024860RYR1c.7836-66A>G (n.7836-66A>G)
c.7833-66A>G (n.7833-66A>G)
c.1288-66A>G
n.7919-66A>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502814A>TCA2581382509RYR1c.7836-66A>T (n.7836-66A>T)
c.7833-66A>T (n.7833-66A>T)
c.1288-66A>T
n.7919-66A>T
gnomAD v4
19g.38502814_38502817delCA633066325RYR1c.7836-66_7836-63del (n.7836-66_7836-63del)
c.7833-66_7833-63del (n.7833-66_7833-63del)
c.1288-66_1288-63del
n.7919-66_7919-63del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502816_38502818delCA2584900963RYR1c.7836-64_7836-62del (n.7836-64_7836-62del)
c.7833-64_7833-62del (n.7833-64_7833-62del)
c.1288-64_1288-62del
n.7919-64_7919-62del
gnomAD v4
19g.38502814_38502826delinsAGCAGGGGCAGGGCA2335054698RYR1c.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
19g.38502816_38502833delCA2335054699RYR1c.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
19g.38502815G>ACA882054270RYR1c.7836-65G>A (n.7836-65G>A)
c.7833-65G>A (n.7833-65G>A)
c.1288-65G>A
n.7919-65G>A
dbSNP gnomAD v4
19g.38502815G>CCA2584900975RYR1c.7836-65G>C (n.7836-65G>C)
c.7833-65G>C (n.7833-65G>C)
c.1288-65G>C
n.7919-65G>C
gnomAD v4
19g.38502815G=CA2335054700RYR1c.7836-65G= (n.7836-65G=)
c.7833-65G= (n.7833-65G=)
c.1288-65G=
n.7919-65G=
19g.38502815G>TCA2335054701RYR1c.7836-65G>T (n.7836-65G>T)
c.7833-65G>T (n.7833-65G>T)
c.1288-65G>T
n.7919-65G>T
dbSNP gnomAD v4
19g.38502815_38502816insGGCA2584900979RYR1c.7836-65_7836-64insGG (n.7836-65_7836-64insGG)
c.7833-65_7833-64insGG (n.7833-65_7833-64insGG)
c.1288-65_1288-64insGG
n.7919-65_7919-64insGG
gnomAD v4
19g.38502815_38502816insGGGCA633066327RYR1c.7836-65_7836-64insGGG (n.7836-65_7836-64insGGG)
c.7833-65_7833-64insGGG (n.7833-65_7833-64insGGG)
c.1288-65_1288-64insGGG
n.7919-65_7919-64insGGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502815_38502816insGGGGCA2584900981RYR1c.7836-65_7836-64insGGGG (n.7836-65_7836-64insGGGG)
c.7833-65_7833-64insGGGG (n.7833-65_7833-64insGGGG)
c.1288-65_1288-64insGGGG
n.7919-65_7919-64insGGGG
gnomAD v4
19g.38502815_38502816insGAGGGGCA995718575RYR1c.7836-65_7836-64insGAGGGG (n.7836-65_7836-64insGAGGGG)
c.7833-65_7833-64insGAGGGG (n.7833-65_7833-64insGAGGGG)
c.1288-65_1288-64insGAGGGG
n.7919-65_7919-64insGAGGGG
gnomAD v3 gnomAD v4
19g.38502815_38502816insTAGGGGCA2584900974RYR1c.7836-65_7836-64insTAGGGG (n.7836-65_7836-64insTAGGGG)
c.7833-65_7833-64insTAGGGG (n.7833-65_7833-64insTAGGGG)
c.1288-65_1288-64insTAGGGG
n.7919-65_7919-64insTAGGGG
gnomAD v4
19g.38502815_38502816insGAGCAGGGGCA2584900980RYR1c.7836-65_7836-64insGAGCAGGGG (n.7836-65_7836-64insGAGCAGGGG)
c.7833-65_7833-64insGAGCAGGGG (n.7833-65_7833-64insGAGCAGGGG)
c.1288-65_1288-64insGAGCAGGGG
n.7919-65_7919-64insGAGCAGGGG
gnomAD v4
19g.38502815_38502816insGAGGAGGGGCA995718579RYR1c.7836-65_7836-64insGAGGAGGGG (n.7836-65_7836-64insGAGGAGGGG)
c.7833-65_7833-64insGAGGAGGGG (n.7833-65_7833-64insGAGGAGGGG)
c.1288-65_1288-64insGAGGAGGGG
n.7919-65_7919-64insGAGGAGGGG
gnomAD v3 gnomAD v4
19g.38502815_38502816insGGGCAGGGGCA2584900982RYR1c.7836-65_7836-64insGGGCAGGGG (n.7836-65_7836-64insGGGCAGGGG)
c.7833-65_7833-64insGGGCAGGGG (n.7833-65_7833-64insGGGCAGGGG)
c.1288-65_1288-64insGGGCAGGGG
n.7919-65_7919-64insGGGCAGGGG
gnomAD v4
19g.38502815_38502816insGGGGAGGGGCA633066329RYR1c.7836-65_7836-64insGGGGAGGGG (n.7836-65_7836-64insGGGGAGGGG)
c.7833-65_7833-64insGGGGAGGGG (n.7833-65_7833-64insGGGGAGGGG)
c.1288-65_1288-64insGGGGAGGGG
n.7919-65_7919-64insGGGGAGGGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502815_38502816insGGGGGGGGGCA2584900973RYR1c.7836-65_7836-64insGGGGGGGGG (n.7836-65_7836-64insGGGGGGGGG)
c.7833-65_7833-64insGGGGGGGGG (n.7833-65_7833-64insGGGGGGGGG)
c.1288-65_1288-64insGGGGGGGGG
n.7919-65_7919-64insGGGGGGGGG
gnomAD v4
19g.38502815_38502816insGGGCAGGGGCAGGGGCA2584900983RYR1c.7836-65_7836-64insGGGCAGGGGCAGGGG (n.7836-65_7836-64insGGGCAGGGGCAGGGG)
c.7833-65_7833-64insGGGCAGGGGCAGGGG (n.7833-65_7833-64insGGGCAGGGGCAGGGG)
c.1288-65_1288-64insGGGCAGGGGCAGGGG
n.7919-65_7919-64insGGGCAGGGGCAGGGG
gnomAD v4
19g.38502815_38502816insGGGCAGGGGGAGGGGCA2584900985RYR1c.7836-65_7836-64insGGGCAGGGGGAGGGG (n.7836-65_7836-64insGGGCAGGGGGAGGGG)
c.7833-65_7833-64insGGGCAGGGGGAGGGG (n.7833-65_7833-64insGGGCAGGGGGAGGGG)
c.1288-65_1288-64insGGGCAGGGGGAGGGG
n.7919-65_7919-64insGGGCAGGGGGAGGGG
gnomAD v4
19g.38502815_38502816insGGGGAGGAGCAGGGGCA995718568RYR1c.7836-65_7836-64insGGGGAGGAGCAGGGG (n.7836-65_7836-64insGGGGAGGAGCAGGGG)
c.7833-65_7833-64insGGGGAGGAGCAGGGG (n.7833-65_7833-64insGGGGAGGAGCAGGGG)
c.1288-65_1288-64insGGGGAGGAGCAGGGG
n.7919-65_7919-64insGGGGAGGAGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502815_38502816insGGGGAGGGGCAGGGGCA2584900965RYR1c.7836-65_7836-64insGGGGAGGGGCAGGGG (n.7836-65_7836-64insGGGGAGGGGCAGGGG)
c.7833-65_7833-64insGGGGAGGGGCAGGGG (n.7833-65_7833-64insGGGGAGGGGCAGGGG)
c.1288-65_1288-64insGGGGAGGGGCAGGGG
n.7919-65_7919-64insGGGGAGGGGCAGGGG
gnomAD v4
19g.38502815_38502816insGGGGAGGGGGAGGGGCA633066328RYR1c.7836-65_7836-64insGGGGAGGGGGAGGGG (n.7836-65_7836-64insGGGGAGGGGGAGGGG)
c.7833-65_7833-64insGGGGAGGGGGAGGGG (n.7833-65_7833-64insGGGGAGGGGGAGGGG)
c.1288-65_1288-64insGGGGAGGGGGAGGGG
n.7919-65_7919-64insGGGGAGGGGGAGGGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502815_38502816insGGGGAGGGGGAGGGGCAGGGGCA2584900967RYR1c.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG (n.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG)
c.7833-65_7833-64insGGGGAGGGGGAGGGGCAGGGG (n.7833-65_7833-64insGGGGAGGGGGAGGGGCAGGGG)
c.1288-65_1288-64insGGGGAGGGGGAGGGGCAGGGG
n.7919-65_7919-64insGGGGAGGGGGAGGGGCAGGGG
gnomAD v4
19g.38502815_38502816insGGGGAGGGGCAGGGGGAGGGGCA2584900966RYR1c.7836-65_7836-64insGGGGAGGGGCAGGGGGAGGGG (n.7836-65_7836-64insGGGGAGGGGCAGGGGGAGGGG)
c.7833-65_7833-64insGGGGAGGGGCAGGGGGAGGGG (n.7833-65_7833-64insGGGGAGGGGCAGGGGGAGGGG)
c.1288-65_1288-64insGGGGAGGGGCAGGGGGAGGGG
n.7919-65_7919-64insGGGGAGGGGCAGGGGGAGGGG
gnomAD v4
19g.38502815_38502816insGGGCAGGGGGAGGGGCAGGGGCA2584900986RYR1c.7836-65_7836-64insGGGCAGGGGGAGGGGCAGGGG (n.7836-65_7836-64insGGGCAGGGGGAGGGGCAGGGG)
c.7833-65_7833-64insGGGCAGGGGGAGGGGCAGGGG (n.7833-65_7833-64insGGGCAGGGGGAGGGGCAGGGG)
c.1288-65_1288-64insGGGCAGGGGGAGGGGCAGGGG
n.7919-65_7919-64insGGGCAGGGGGAGGGGCAGGGG
gnomAD v4
19g.38502815_38502816insGGGCAGGGGGAGGGGGAGGGGCA995718569RYR1c.7836-65_7836-64insGGGCAGGGGGAGGGGGAGGGG (n.7836-65_7836-64insGGGCAGGGGGAGGGGGAGGGG)
c.7833-65_7833-64insGGGCAGGGGGAGGGGGAGGGG (n.7833-65_7833-64insGGGCAGGGGGAGGGGGAGGGG)
c.1288-65_1288-64insGGGCAGGGGGAGGGGGAGGGG
n.7919-65_7919-64insGGGCAGGGGGAGGGGGAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502815_38502816insGGGGAGGGGGAGGGGGGGGGGCA2584900971RYR1c.7836-65_7836-64insGGGGAGGGGGAGGGGGGGGGG (n.7836-65_7836-64insGGGGAGGGGGAGGGGGGGGGG)
c.7833-65_7833-64insGGGGAGGGGGAGGGGGGGGGG (n.7833-65_7833-64insGGGGAGGGGGAGGGGGGGGGG)
c.1288-65_1288-64insGGGGAGGGGGAGGGGGGGGGG
n.7919-65_7919-64insGGGGAGGGGGAGGGGGGGGGG
gnomAD v4
19g.38502815_38502816insGGGGAGGGGGAGGGGGAGGGGCA2582145388RYR1c.7836-65_7836-64insGGGGAGGGGGAGGGGGAGGGG (n.7836-65_7836-64insGGGGAGGGGGAGGGGGAGGGG)
c.7833-65_7833-64insGGGGAGGGGGAGGGGGAGGGG (n.7833-65_7833-64insGGGGAGGGGGAGGGGGAGGGG)
c.1288-65_1288-64insGGGGAGGGGGAGGGGGAGGGG
n.7919-65_7919-64insGGGGAGGGGGAGGGGGAGGGG
gnomAD v3 gnomAD v4
19g.38502815_38502816insGGGGAGGGGTTAGGGGGAGGGGCA2584900972RYR1c.7836-65_7836-64insGGGGAGGGGTTAGGGGGAGGGG (n.7836-65_7836-64insGGGGAGGGGTTAGGGGGAGGGG)
c.7833-65_7833-64insGGGGAGGGGTTAGGGGGAGGGG (n.7833-65_7833-64insGGGGAGGGGTTAGGGGGAGGGG)
c.1288-65_1288-64insGGGGAGGGGTTAGGGGGAGGGG
n.7919-65_7919-64insGGGGAGGGGTTAGGGGGAGGGG
gnomAD v4
19g.38502815_38502816insGGGGAGGGGGAGGGGGAGGGGGAGGGGCA2584900970RYR1c.7836-65_7836-64insGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-65_7836-64insGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.7833-65_7833-64insGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-65_7833-64insGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.1288-65_1288-64insGGGGAGGGGGAGGGGGAGGGGGAGGGG
n.7919-65_7919-64insGGGGAGGGGGAGGGGGAGGGGGAGGGG
gnomAD v4
19g.38502815_38502816insGGGGAGGGGCAGGGGGAGGGGGAGGGGCA2582145389RYR1c.7836-65_7836-64insGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7836-65_7836-64insGGGGAGGGGCAGGGGGAGGGGGAGGGG)
c.7833-65_7833-64insGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7833-65_7833-64insGGGGAGGGGCAGGGGGAGGGGGAGGGG)
c.1288-65_1288-64insGGGGAGGGGCAGGGGGAGGGGGAGGGG
n.7919-65_7919-64insGGGGAGGGGCAGGGGGAGGGGGAGGGG
gnomAD v4
19g.38502815_38502816insGGGGAGGGGGAGGGGCAGGGGGAGGGGCA2584900968RYR1c.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGGGAGGGG (n.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGGGAGGGG)
c.7833-65_7833-64insGGGGAGGGGGAGGGGCAGGGGGAGGGG (n.7833-65_7833-64insGGGGAGGGGGAGGGGCAGGGGGAGGGG)
c.1288-65_1288-64insGGGGAGGGGGAGGGGCAGGGGGAGGGG
n.7919-65_7919-64insGGGGAGGGGGAGGGGCAGGGGGAGGGG
gnomAD v4
19g.38502815_38502816insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGCA2584900969RYR1c.7836-65_7836-64insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGG (n.7836-65_7836-64insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGG)
c.7833-65_7833-64insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGG (n.7833-65_7833-64insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGG)
c.1288-65_1288-64insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGG
n.7919-65_7919-64insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGG
gnomAD v4
19g.38502815_38502816insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCA2584900984RYR1c.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG)
c.7833-65_7833-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7833-65_7833-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG)
c.1288-65_1288-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG
n.7919-65_7919-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG
gnomAD v4
19g.38502815_38502816insGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCA995718561RYR1c.7836-65_7836-64insGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGG (n.7836-65_7836-64insGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGG)
c.7833-65_7833-64insGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGG (n.7833-65_7833-64insGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGG)
c.1288-65_1288-64insGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGG
n.7919-65_7919-64insGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGG
19g.38502819_38502820insAGCAGGGGCAGGCA995718601RYR1c.7836-61_7836-60insAGCAGGGGCAGG (n.7836-61_7836-60insAGCAGGGGCAGG)
c.7833-61_7833-60insAGCAGGGGCAGG (n.7833-61_7833-60insAGCAGGGGCAGG)
c.1288-61_1288-60insAGCAGGGGCAGG
n.7919-61_7919-60insAGCAGGGGCAGG
dbSNP gnomAD v3 gnomAD v4
19g.38502821_38502822insGAGGGCAGGGGCA920105625RYR1c.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
19g.38502821_38502822insGAGGGGCAGGGGCA995718581RYR1c.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
19g.38502821_38502822insGAGGAGCAGGGGCAGGGGCA995718585RYR1c.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
19g.38502821_38502822insGAGGAGCAGGGGCAGGGGCAGGGGCA2584900978RYR1c.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
19g.38502830_38502831insGGGCAGGGGCAGGGGCAGCA2584900976RYR1c.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
19g.38502830_38502831insGGGGAGGAGCAGGGGCAGGGGCAGGGGCAGCA2584900977RYR1c.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
19g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAGCA995718589RYR1c.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
19g.38502825_38502830dupCA308112974RYR1c.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
19g.38502819_38502830dupCA995718557RYR1c.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
19g.38502825_38502830delCA2576771135RYR1c.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
19g.38502819_38502830delCA882054274RYR1c.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
19g.38502816delCA2814347317RYR1c.7836-64del (n.7836-64del)
c.7833-64del (n.7833-64del)
c.1288-64del
n.7919-64del
19g.38502816C>ACA2584900989RYR1c.7836-64C>A (n.7836-64C>A)
c.7833-64C>A (n.7833-64C>A)
c.1288-64C>A
n.7919-64C>A
gnomAD v4
19g.38502816C=CA2335054702RYR1c.7836-64C= (n.7836-64C=)
c.7833-64C= (n.7833-64C=)
c.1288-64C=
n.7919-64C=
19g.38502816C>GCA308112981RYR1c.7836-64C>G (n.7836-64C>G)
c.7833-64C>G (n.7833-64C>G)
c.1288-64C>G
n.7919-64C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502816C>TCA2335054703RYR1c.7836-64C>T (n.7836-64C>T)
c.7833-64C>T (n.7833-64C>T)
c.1288-64C>T
n.7919-64C>T
dbSNP gnomAD v4
19g.38502816_38502817delCA2584900987RYR1c.7836-64_7836-63del (n.7836-64_7836-63del)
c.7833-64_7833-63del (n.7833-64_7833-63del)
c.1288-64_1288-63del
n.7919-64_7919-63del
gnomAD v4
19g.38502820_38502821insTCAGGGCA2335054704RYR1c.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
19g.38502816_38502829delCA2584900988RYR1c.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
19g.38502816_38502817insGGGCA2584901008RYR1c.7836-64_7836-63insGGG (n.7836-64_7836-63insGGG)
c.7833-64_7833-63insGGG (n.7833-64_7833-63insGGG)
c.1288-64_1288-63insGGG
n.7919-64_7919-63insGGG
gnomAD v4
19g.38502816_38502817insCGGGGGAGGGGGCA2563128778RYR1c.7836-64_7836-63insCGGGGGAGGGGG (n.7836-64_7836-63insCGGGGGAGGGGG)
c.7833-64_7833-63insCGGGGGAGGGGG (n.7833-64_7833-63insCGGGGGAGGGGG)
c.1288-64_1288-63insCGGGGGAGGGGG
n.7919-64_7919-63insCGGGGGAGGGGG
19g.38502816_38502817insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGCA2584901009RYR1c.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG (n.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG)
c.7833-64_7833-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG (n.7833-64_7833-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG)
c.1288-64_1288-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG
n.7919-64_7919-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG
gnomAD v4
19g.38502817A=CA2335054705RYR1c.7836-63A= (n.7836-63A=)
c.7833-63A= (n.7833-63A=)
c.1288-63A=
n.7919-63A=
19g.38502817A>CCA995718639RYR1c.7836-63A>C (n.7836-63A>C)
c.7833-63A>C (n.7833-63A>C)
c.1288-63A>C
n.7919-63A>C
dbSNP gnomAD v3 gnomAD v4
19g.38502817A>GCA995718643RYR1c.7836-63A>G (n.7836-63A>G)
c.7833-63A>G (n.7833-63A>G)
c.1288-63A>G
n.7919-63A>G
dbSNP gnomAD v3 gnomAD v4
19g.38502817A>TCA995718644RYR1c.7836-63A>T (n.7836-63A>T)
c.7833-63A>T (n.7833-63A>T)
c.1288-63A>T
n.7919-63A>T
gnomAD v3 gnomAD v4
19g.38502818_38502819insAGCGGGCCTGGACGGGGGGGGGAGCA2584901027RYR1c.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG (n.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG)
c.7833-62_7833-61insAGCGGGCCTGGACGGGGGGGGGAG (n.7833-62_7833-61insAGCGGGCCTGGACGGGGGGGGGAG)
c.1288-62_1288-61insAGCGGGCCTGGACGGGGGGGGGAG
n.7919-62_7919-61insAGCGGGCCTGGACGGGGGGGGGAG
gnomAD v4
19g.38502817_38502819delCA2584901010RYR1c.7836-63_7836-61del (n.7836-63_7836-61del)
c.7833-63_7833-61del (n.7833-63_7833-61del)
c.1288-63_1288-61del
n.7919-63_7919-61del
gnomAD v4
19g.38502820_38502821insAGAGGGGGAGGGCA995718693RYR1c.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
19g.38502820_38502821insAGAGGGGGAGGGGGAGGGCA2584901024RYR1c.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
19g.38502817_38502821delCA2584901011RYR1c.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
19g.38502821_38502822insGAGGGGCA633066330RYR1c.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
19g.38502821_38502822insAGGGGGAGGGGCA2814347329RYR1c.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
19g.38502821_38502822insGGGGGGAGGGGCA2814347325RYR1c.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
19g.38502821_38502822insGAGAGGGAGGGGCA995718650RYR1c.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
19g.38502821_38502822insGAGGGGGAGGGGCA633066333RYR1c.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
19g.38502821_38502822insGCGGGGGAGGGGCA2584901006RYR1c.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
19g.38502821_38502822insGGGGGGGAGGGGCA2584901007RYR1c.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
19g.38502821_38502822insGAGGGGGAGGGGGAGGGGCA995718628RYR1c.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
19g.38502821_38502822insGAGGGGGGGGGGGAGGGGCA2584901005RYR1c.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
19g.38502821_38502822insGAGGGGCAGGGGGAGGGGGAGGGGCA633066332RYR1c.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
19g.38502821_38502822insGAGGGGCAGGGGCAGGGGGAGGGGCA2584901029RYR1c.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
19g.38502821_38502822insGAGGGGGAGGGGGAGGGGGAGGGGCA2584900990RYR1c.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
19g.38502821_38502822insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCA2582145390RYR1c.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
19g.38502821_38502822insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCA2584901021RYR1c.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
19g.38502821_38502822insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCA2584901002RYR1c.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
19g.38502821_38502822insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCA2584900999RYR1c.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
19g.38502821_38502822insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCA995718637RYR1c.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
19g.38502821_38502822insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCA995718633RYR1c.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
19g.38502821_38502822insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCA633066331RYR1c.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
19g.38502821_38502822insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCA2584900996RYR1c.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
19g.38502821_38502822insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCA995718624RYR1c.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
19g.38502821_38502822insGAGGGGGAGGGGCAGGGGCCGGGGGAGGGGGAGGGGGAGGGGCA2584900993RYR1c.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
19g.38502821_38502822insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGAGGGAGGGGCA2584900995RYR1c.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
19g.38502821_38502822insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCA2584901001RYR1c.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
19g.38502821_38502822insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCA2584900997RYR1c.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
19g.38502821_38502822insGAGGGGGGGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCA2584901004RYR1c.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
19g.38502821_38502822insGAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCA2584900998RYR1c.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
19g.38502821_38502822insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCA2584900992RYR1c.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
19g.38502821_38502822insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCA2524001460RYR1c.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
19g.38502821_38502822insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCA2584900994RYR1c.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
19g.38502821_38502822insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCA2584901003RYR1c.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
19g.38502821_38502822insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCA2584901000RYR1c.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
19g.38502821_38502822insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCA2584901028RYR1c.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
19g.38502821_38502822insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCA2584900991RYR1c.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
19g.38502821_38502822insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCA2584901026RYR1c.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
19g.38502817_38502825delCA2584901012RYR1c.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
19g.38502827_38502828insGAGGGGCAGGGGCA995718667RYR1c.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
19g.38502827_38502828insGGGAGGGGCAGGGGCA2584901030RYR1c.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
19g.38502827_38502828insGAGGGGGAGGGGCAGGGGCA995718652RYR1c.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
19g.38502827_38502828insGAGGGGGAGGGGGAGGGGCAGGGGCA2584901033RYR1c.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
19g.38502827_38502828insGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCA995718645RYR1c.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
19g.38502827_38502828insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCA2584901034RYR1c.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
19g.38502827_38502828insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCA2584901014RYR1c.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
19g.38502827_38502828insGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCA2584901015RYR1c.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
19g.38502827_38502828insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCA995718654RYR1c.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
19g.38502827_38502828insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCA2335054706RYR1c.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
19g.38502827_38502828insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCA2584901031RYR1c.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
19g.38502827_38502828insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCA2814347331RYR1c.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
19g.38502827_38502828insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCA2584901032RYR1c.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
19g.38502827_38502828insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCA2584901013RYR1c.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
19g.38502827_38502828insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCA2582145391RYR1c.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
19g.38502827_38502828insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCA2584901025RYR1c.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
19g.38502830_38502831insGGGGAGGGGCAGGGGCAGCA995718685RYR1c.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
19g.38502830_38502831insGGGCAGGGGGAGGGGCAGGGGCAGCA995718690RYR1c.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
19g.38502830_38502831insGGGGAGGGGGAGGGGCAGGGGCAGCA2584901018RYR1c.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
19g.38502830_38502831insGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGCA2584901020RYR1c.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
19g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGCA2584901017RYR1c.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
19g.38502830_38502831insGGGGAGGGGGGAGGGGGAGGGGCAGGGGCAGCA2584901016RYR1c.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
19g.38502830_38502831insGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGCA2584901019RYR1c.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
19g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGCA2584901022RYR1c.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
19g.38502830_38502831insGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGCA2525411784RYR1c.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
19g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGCA2584901023RYR1c.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
19g.38502818G>ACA2335054707RYR1c.7836-62G>A (n.7836-62G>A)
c.7833-62G>A (n.7833-62G>A)
c.1288-62G>A
n.7919-62G>A
dbSNP gnomAD v3 gnomAD v4
19g.38502818G>CCA2335054709RYR1c.7836-62G>C (n.7836-62G>C)
c.7833-62G>C (n.7833-62G>C)
c.1288-62G>C
n.7919-62G>C
dbSNP gnomAD v4
19g.38502818G=CA2335054710RYR1c.7836-62G= (n.7836-62G=)
c.7833-62G= (n.7833-62G=)
c.1288-62G=
n.7919-62G=
19g.38502818G>TCA2335054708RYR1c.7836-62G>T (n.7836-62G>T)
c.7833-62G>T (n.7833-62G>T)
c.1288-62G>T
n.7919-62G>T
dbSNP gnomAD v4
19g.38502821_38502822insGAGGGGGGGGGCA2584901037RYR1c.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
19g.38502821_38502822insGAGGGGGCGGGGCA2584901035RYR1c.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
19g.38502821_38502822insGAGGGGGGGGGGCA995718702RYR1c.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
19g.38502821delCA2531796320RYR1c.7836-59del (n.7836-59del)
c.7833-59del (n.7833-59del)
c.1288-59del
n.7919-59del
19g.38502822_38502823insCGGGGCCA2736032409RYR1c.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
19g.38502819_38502827delCA2584901036RYR1c.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
19g.38502830_38502831insGGGCAGGGGCAGGGGGGGGGGCGGGGGCAGGGGCAGCA2504081048RYR1c.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
19g.38502820_38502839delCA2584901038RYR1c.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
19g.38502819G>ACA308112983RYR1c.7836-61G>A (n.7836-61G>A)
c.7833-61G>A (n.7833-61G>A)
c.1288-61G>A
n.7919-61G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502819G>CCA2584901040RYR1c.7836-61G>C (n.7836-61G>C)
c.7833-61G>C (n.7833-61G>C)
c.1288-61G>C
n.7919-61G>C
gnomAD v4
19g.38502819G=CA2335054711RYR1c.7836-61G= (n.7836-61G=)
c.7833-61G= (n.7833-61G=)
c.1288-61G=
n.7919-61G=
19g.38502819G>TCA2814347338RYR1c.7836-61G>T (n.7836-61G>T)
c.7833-61G>T (n.7833-61G>T)
c.1288-61G>T
n.7919-61G>T
19g.38502823_38502840delCA2584901039RYR1c.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
19g.38502820G>ACA308112985RYR1c.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
19g.38502820G>CCA308112990RYR1c.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
19g.38502820G=CA2335054712RYR1c.7836-60G= (n.7836-60G=)
c.7833-60G= (n.7833-60G=)
c.1288-60G=
n.7919-60G=
19g.38502820G>TCA2584901041RYR1c.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
19g.38502821_38502822insGAGGGGGAGAGGCA995718709RYR1c.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
19g.38502821_38502822insGAGGGGGAGTGGCA2582145392RYR1c.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
19g.38502824_38502825insAGGCAGCA2736032431RYR1c.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
19g.38502820_38502828delinsGGCAGGGGCCA2335054714RYR1c.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
19g.38502821G>ACA633066335RYR1c.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
19g.38502821G>CCA2584901043RYR1c.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
19g.38502821G=CA2335054715RYR1c.7836-59G= (n.7836-59G=)
c.7833-59G= (n.7833-59G=)
c.1288-59G=
n.7919-59G=
19g.38502821G>TCA2584901042RYR1c.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
19g.38502821_38502822insGAGGAGCA995718716RYR1c.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
19g.38502821_38502822insGAGGAGCAGGAGCA2584901046RYR1c.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
19g.38502821_38502822insGAGGGGGAGGAGCA2584901045RYR1c.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
19g.38502821_38502822insGAGGGGGAGGCGCA2584901044RYR1c.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
19g.38502821_38502822insGAGGGGCAGGGGGAGGGGGAGGCGCA2335054713RYR1c.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
19g.38502821_38502822delCA633066334RYR1c.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
19g.38502827_38502828insGAGGAGCAGGGGCA2584901047RYR1c.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
19g.38502821_38502828delCA995718718RYR1c.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
19g.38502830_38502831insGGGGAGGAGCAGGGGCAGCA2584901048RYR1c.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
19g.38502830_38502831insGGGCAGGGGGAGGAGCAGGGGCAGCA2584901049RYR1c.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
19g.38502821_38502822insGAGGGACA2584901050RYR1c.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
19g.38502821_38502822insGAGGGGGAGGGGGAGGGTCA2584901051RYR1c.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
19g.38502822C>ACA995718732RYR1c.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
19g.38502822C=CA2335054716RYR1c.7836-58C= (n.7836-58C=)
c.7833-58C= (n.7833-58C=)
c.1288-58C=
n.7919-58C=
19g.38502822C>GCA308112995RYR1c.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
19g.38502822C>TCA308113015RYR1c.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
19g.38502822_38502823delCA995718727RYR1c.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
19g.38502823A=CA2335054719RYR1c.7836-57A= (n.7836-57A=)
c.7833-57A= (n.7833-57A=)
c.1288-57A=
n.7919-57A=
19g.38502823A>CCA882054299RYR1c.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
19g.38502823A>GCA995718761RYR1c.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
19g.38502823A>TCA2335054718RYR1c.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
19g.38502823_38502826delinsAGGGCA2335054717RYR1c.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
19g.38502827_38502828insGAGGGGCA995718775RYR1c.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
19g.38502827_38502828insGAGGGGGAGGGGCA633066336RYR1c.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
19g.38502827_38502828insGAGGAGCAGGGGGAGGGGCA995718768RYR1c.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
19g.38502827_38502828insGAGGGGGAGGGGGAGGGGCA995718751RYR1c.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
19g.38502827_38502828insGAGGGGGAGGGGGAGGGGGAGGGGCA2584901058RYR1c.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
19g.38502827_38502828insGAGAGGGAGGGGGAGGGGGAGGGGCA2584901054RYR1c.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
19g.38502827_38502828insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCA2584901055RYR1c.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
19g.38502827_38502828insGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCA2814347342RYR1c.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
19g.38502827_38502828insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCA995718765RYR1c.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
19g.38502827_38502828insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCA2584901056RYR1c.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
19g.38502830_38502831insGGGGAGGGGCAGCA995718779RYR1c.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
19g.38502830_38502831insGGGCAGGGGGAGGGGCAGCA995718776RYR1c.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
19g.38502830_38502831insGGGGAGGGGGAGGGGCAGCA2584901067RYR1c.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
19g.38502830_38502831insGGGCAGGGGCAGGGGGAGGGGCAGCA995718782RYR1c.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
19g.38502830_38502831insGGGCAGGGGGAGGGGGAGGGGCAGCA2584901064RYR1c.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
19g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGCAGCA2582145393RYR1c.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
19g.38502830_38502831insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGCA2814347345RYR1c.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
19g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGCA995718780RYR1c.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
19g.38502830_38502831insGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGCA995718777RYR1c.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
19g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGCA2584901059RYR1c.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
19g.38502830_38502831insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGCA995718778RYR1c.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
19g.38502830_38502831insGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGCA2584901066RYR1c.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
19g.38502830_38502831insGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGCA2584901068RYR1c.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
19g.38502830_38502831insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGCA2584901061RYR1c.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
19g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGCA995718769RYR1c.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
19g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGCA2584901052RYR1c.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
19g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGCA2584901057RYR1c.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
19g.38502830_38502831insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGCA2584901065RYR1c.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
19g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAGCA2584901053RYR1c.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
19g.38502830_38502831insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGCA2584901062RYR1c.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
19g.38502830_38502831insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGCA2584901063RYR1c.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
19g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGCA2584901060RYR1c.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
19g.38502824G>ACA995718816RYR1c.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
19g.38502824G>CCA2584901069RYR1c.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
19g.38502824G=CA2335054721RYR1c.7836-56G= (n.7836-56G=)
c.7833-56G= (n.7833-56G=)
c.1288-56G=
n.7919-56G=
19g.38502824G>TCA2576771136RYR1c.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
19g.38502827_38502828insGGGGGGCA995718793RYR1c.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
19g.38502827_38502828insGAGGGGGAGGGGCGGGGGCA995718792RYR1c.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
19g.38502825_38502827delCA2335054720RYR1c.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
19g.38502830_38502831insGGGCAGGGGCCGGGGCAGCA2584901071RYR1c.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
19g.38502830_38502831insGGGGAGGGGCAGGGGGGGGGGCAGCA2584901070RYR1c.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
19g.38502826_38502839delCA2584901072RYR1c.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
19g.38502825G>ACA882054308RYR1c.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
19g.38502825G>CCA308113024RYR1c.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
19g.38502825G=CA2335054723RYR1c.7836-55G= (n.7836-55G=)
c.7833-55G= (n.7833-55G=)
c.1288-55G=
n.7919-55G=
19g.38502825G>TCA2582145394RYR1c.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
19g.38502825_38502828delinsGGGCCA2335054724RYR1c.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
19g.38502826_38502830delCA2814347346RYR1c.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
19g.38502825_38502834delinsGGGCAGCAGACA2335054722RYR1c.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
19g.38502829_38502840delCA995718822RYR1c.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
19g.38502826G>ACA308113029RYR1c.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
19g.38502826G>CCA2584901075RYR1c.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
19g.38502826G=CA2335054725RYR1c.7836-54G= (n.7836-54G=)
c.7833-54G= (n.7833-54G=)
c.1288-54G=
n.7919-54G=
19g.38502826G>TCA2584901074RYR1c.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
19g.38502826_38502828delCA882054313RYR1c.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
19g.38502826_38502828dupCA995718845RYR1c.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
19g.38502830_38502831insGGGCAGCGGCAGCA995718841RYR1c.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
19g.38502826_38502831delCA2584901073RYR1c.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
19g.38502826_38502831dupCA633066337RYR1c.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
19g.38502827_38502835delCA995718842RYR1c.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
19g.38502828_38502838delCA995718840RYR1c.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
19g.38502827G>ACA308113035RYR1c.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
19g.38502827G>CCA2584901077RYR1c.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
19g.38502827G=CA2335054727RYR1c.7836-53G= (n.7836-53G=)
c.7833-53G= (n.7833-53G=)
c.1288-53G=
n.7919-53G=
19g.38502827G>TCA2584901076RYR1c.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
19g.38502827_38502828insGAGCA2584901081RYR1c.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
19g.38502827_38502828insGAGGAGCA2584901078RYR1c.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
19g.38502830_38502831insGGGCAGCAGCAGCA995718847RYR1c.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
19g.38502830_38502831insGGGCAGGAGCAGCA2584901084RYR1c.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
19g.38502830_38502831insGGGGAGGAGCAGCA2584901079RYR1c.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
19g.38502830_38502831insGGGCAGGGGCAGCAGCAGCA2584901082RYR1c.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
19g.38502830_38502831insGGGCAGGGGGAGGAGCAGCA2584901080RYR1c.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
19g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGCA2584901083RYR1c.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
19g.38502828_38502833dupCA2335054726RYR1c.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
19g.38502831_38502833delCA995718850RYR1c.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
19g.38502828C>ACA2335054730RYR1c.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
19g.38502828C=CA2335054729RYR1c.7836-52C= (n.7836-52C=)
c.7833-52C= (n.7833-52C=)
c.1288-52C=
n.7919-52C=
19g.38502828C>GCA308113042RYR1c.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
19g.38502828C>TCA2335054728RYR1c.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
19g.38502828_38502829delCA2582145395RYR1c.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
19g.38502828_38502832delCA633066338RYR1c.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
19g.38502829A=CA2335054731RYR1c.7836-51A= (n.7836-51A=)
c.7833-51A= (n.7833-51A=)
c.1288-51A=
n.7919-51A=
19g.38502829A>CCA2584901089RYR1c.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
19g.38502829A>TCA2519413435RYR1c.7836-51A>T (n.7836-51A>T)
c.7833-51A>T (n.7833-51A>T)
c.1288-51A>T
n.7919-51A>T
19g.38502830_38502831insGGGGAGCA995718869RYR1c.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
19g.38502830_38502831insGGGTAGCA2584901088RYR1c.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
19g.38502830_38502831insGGGGAGGAGCA995718873RYR1c.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
19g.38502830_38502831insGGGCAGGGGGAGCA2584901087RYR1c.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
19g.38502830_38502831insGGGCAGGGGCAGGGGGAGCA2584901086RYR1c.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
19g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGCA2584901085RYR1c.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
19g.38502829_38502847delinsAGCAGAGCGGGCCTGGACGCA2335054732RYR1c.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
19g.38502830G>ACA995718879RYR1c.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
19g.38502830G>CCA2584901095RYR1c.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
19g.38502830G=CA2335054734RYR1c.7836-50G= (n.7836-50G=)
c.7833-50G= (n.7833-50G=)
c.1288-50G=
n.7919-50G=
19g.38502830G>TCA2584901096RYR1c.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
19g.38502830_38502831insGGGCA633066339RYR1c.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
19g.38502830_38502831insGGGCCGCA2735916232RYR1c.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
19g.38502830_38502831insGGGGAGGCA995718904RYR1c.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
19g.38502830_38502831insGGGCAGGGGCA995718912RYR1c.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
19g.38502830_38502831insGGGGAGGGGCA633066341RYR1c.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
19g.38502830_38502831insGGGGGGGGGCA2584901093RYR1c.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
19g.38502830_38502831insGGGGAGGGGGAGGCA2584901090RYR1c.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
19g.38502830_38502831insGGAGAGGAGCAGGGGCA995718921RYR1c.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
19g.38502830_38502831insGGGCAGGGGCAGGGGCA633066343RYR1c.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
19g.38502830_38502831insGGGGAGGAGCAGGGGCA2584901097RYR1c.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
19g.38502830_38502831insGGGGAGGGGCAGGGGCA2584901099RYR1c.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
19g.38502830_38502831insGGGGAGGGGGAGGGGCA2584901091RYR1c.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
19g.38502830_38502831insGGGGAGGGGGAGGGGCAGGGGCA995718888RYR1c.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
19g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCA633066344RYR1c.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
19g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGCA2584901092RYR1c.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
19g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGGAGGGGCA633066345RYR1c.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
19g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCAGGGGCA995718910RYR1c.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
19g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA633066340RYR1c.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
19g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA2535606458RYR1c.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
19g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGGCA2505809630RYR1c.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
19g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCA995718882RYR1c.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
19g.38502830dupCA2584901098RYR1c.7836-50dup (n.7836-50dup)
c.7833-50dup (n.7833-50dup)
c.1288-50dup
n.7919-50dup
gnomAD v4
19g.38502830_38502832delinsGCACA2335054733RYR1c.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
19g.38502830_38502836delinsGCAGAGCCA2335054735RYR1c.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
19g.38502831_38502847delCA2584901094RYR1c.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
19g.38502831_38502848delCA633066342RYR1c.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
19g.38502831delCA633066346RYR1c.7836-49del (n.7836-49del)
c.7833-49del (n.7833-49del)
c.1288-49del
n.7919-49del
gnomAD v2 gnomAD v3 gnomAD v4
19g.38502831C>ACA2584901100RYR1c.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
19g.38502831C=CA2335054736RYR1c.7836-49C= (n.7836-49C=)
c.7833-49C= (n.7833-49C=)
c.1288-49C=
n.7919-49C=
19g.38502831C>GCA070714RYR1c.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
19g.38502831C>TCA070720RYR1c.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
19g.38502831_38502832delCA633066347RYR1c.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
19g.38502831_38502834delinsCAGACA2335054737RYR1c.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
19g.38502831_38502836delCA633066348RYR1c.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
19g.38502831_38502846delCA995718931RYR1c.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
19g.38502832A=CA2335054738RYR1c.7836-48A= (n.7836-48A=)
c.7833-48A= (n.7833-48A=)
c.1288-48A=
n.7919-48A=
19g.38502832A>CCA633066349RYR1c.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
19g.38502832A>GCA633066350RYR1c.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
19g.38502832A>TCA2584901103RYR1c.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
19g.38502833_38502834insGGGCAGGGGGAGGAGCA2540190470RYR1c.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
19g.38502833_38502834insGGGCAGGGGCAGGGGGAGGAGCA2584901102RYR1c.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
19g.38502833_38502834insGGGCAGGGGCAGGGGCAGGGGGAGGAGCA2584901101RYR1c.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
19g.38502832_38502834delCA995718932RYR1c.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
19g.38502833G>ACA2335054739RYR1c.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
19g.38502833G>CCA2584901104RYR1c.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
19g.38502833G=CA2335054741RYR1c.7836-47G= (n.7836-47G=)
c.7833-47G= (n.7833-47G=)
c.1288-47G=
n.7919-47G=
19g.38502833G>TCA070709RYR1c.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
19g.38502833_38502834insGGGCA995718936RYR1c.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
19g.38502833_38502834insGGGGCA995718938RYR1c.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
19g.38502833_38502834insGGGGAGGCA995718941RYR1c.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
19g.38502833_38502834insGGGGAGGGGGCA2584901105RYR1c.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
19g.38502833dupCA2584901106RYR1c.7836-47dup (n.7836-47dup)
c.7833-47dup (n.7833-47dup)
c.1288-47dup
n.7919-47dup
gnomAD v4
19g.38502833_38502836delinsGAGCCA2335054740RYR1c.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
19g.38502833_38502834insGGGCCA633066351RYR1c.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
19g.38502834A=CA2335054742RYR1c.7836-46A= (n.7836-46A=)
c.7833-46A= (n.7833-46A=)
c.1288-46A=
n.7919-46A=
19g.38502834A>CCA995718950RYR1c.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
19g.38502834A>GCA633066353RYR1c.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
19g.38502834_38502836delCA633066352RYR1c.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
19g.38502835G>ACA070702RYR1c.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
19g.38502835G=CA2335054743RYR1c.7836-45G= (n.7836-45G=)
c.7833-45G= (n.7833-45G=)
c.1288-45G=
n.7919-45G=
19g.38502835G>TCA070705RYR1c.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
19g.38502836_38502837delCA2584901107RYR1c.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
19g.38502836_38502847delCA2584901108RYR1c.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
19g.38502836delCA633066354RYR1c.7836-44del (n.7836-44del)
c.7833-44del (n.7833-44del)
c.1288-44del
n.7919-44del
gnomAD v2 gnomAD v3 gnomAD v4
19g.38502836C>ACA2582145396RYR1c.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
19g.38502836C=CA2335054744RYR1c.7836-44C= (n.7836-44C=)
c.7833-44C= (n.7833-44C=)
c.1288-44C=
n.7919-44C=
19g.38502836C>GCA308113116RYR1c.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
19g.38502836C>TCA082837RYR1c.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
19g.38502836_38502837insAGCA995718965RYR1c.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
19g.38502837G>ACA070696RYR1c.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
19g.38502837G>CCA882054357RYR1c.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
19g.38502837G=CA2335054745RYR1c.7836-43G= (n.7836-43G=)
c.7833-43G= (n.7833-43G=)
c.1288-43G=
n.7919-43G=
19g.38502837G>TCA2584901109RYR1c.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
19g.38502838G>ACA070691RYR1c.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
19g.38502838G=CA2335054746RYR1c.7836-42G= (n.7836-42G=)
c.7833-42G= (n.7833-42G=)
c.1288-42G=
n.7919-42G=
19g.38502838G>TCA082835RYR1c.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
19g.38502839G>ACA070685RYR1c.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
19g.38502839G=CA2335054747RYR1c.7836-41G= (n.7836-41G=)
c.7833-41G= (n.7833-41G=)
c.1288-41G=
n.7919-41G=
19g.38502839G>TCA995718980RYR1c.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
19g.38502840_38502843delCA2584901110RYR1c.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
19g.38502840C>ACA2584901111RYR1c.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
19g.38502840C=CA2335054748RYR1c.7836-40C= (n.7836-40C=)
c.7833-40C= (n.7833-40C=)
c.1288-40C=
n.7919-40C=
19g.38502840C>GCA070679RYR1c.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
19g.38502840C>TCA070682RYR1c.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
19g.38502840_38502842delCA2582145397RYR1c.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
19g.38502841C>ACA633066355RYR1c.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
19g.38502841C=CA2335054749RYR1c.7836-39C= (n.7836-39C=)
c.7833-39C= (n.7833-39C=)
c.1288-39C=
n.7919-39C=
19g.38502841C>GCA070670RYR1c.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
19g.38502841C>TCA070675RYR1c.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
19g.38502841_38502844delCA995718993RYR1c.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
19g.38502842T>ACA2584901112RYR1c.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
19g.38502842T>CCA9415895RYR1c.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
19g.38502842T>GCA633066356RYR1c.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
19g.38502842T=CA2335054751RYR1c.7836-38T= (n.7836-38T=)
c.7833-38T= (n.7833-38T=)
c.1288-38T=
n.7919-38T=
19g.38502842_38502843delinsTGCA2335054750RYR1c.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
19g.38502843G>ACA070650RYR1c.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
19g.38502843G>CCA070656RYR1c.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
19g.38502843G=CA2335054752RYR1c.7836-37G= (n.7836-37G=)
c.7833-37G= (n.7833-37G=)
c.1288-37G=
n.7919-37G=
19g.38502843G>TCA2584901113RYR1c.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
19g.38502844delCA9415894RYR1c.7836-36del (n.7836-36del)
c.7833-36del (n.7833-36del)
c.1288-36del
n.7919-36del
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502844G>ACA633066357RYR1c.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
19g.38502844G=CA2335054753RYR1c.7836-36G= (n.7836-36G=)
c.7833-36G= (n.7833-36G=)
c.1288-36G=
n.7919-36G=
19g.38502844G>TCA082820RYR1c.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
19g.38502845A=CA2335054754RYR1c.7836-35A= (n.7836-35A=)
c.7833-35A= (n.7833-35A=)
c.1288-35A=
n.7919-35A=
19g.38502845A>CCA2335054755RYR1c.7836-35A>C (n.7836-35A>C)
c.7833-35A>C (n.7833-35A>C)
c.1288-35A>C
n.7919-35A>C
dbSNP
19g.38502845A>GCA633066358RYR1c.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
19g.38502845_38502846delinsCGCA082814RYR1c.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
19g.38502846delCA995719010RYR1c.7836-34del (n.7836-34del)
c.7833-34del (n.7833-34del)
c.1288-34del
n.7919-34del
gnomAD v3 gnomAD v4
19g.38502846C>ACA2584901114RYR1c.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
19g.38502846C=CA2335054756RYR1c.7836-34C= (n.7836-34C=)
c.7833-34C= (n.7833-34C=)
c.1288-34C=
n.7919-34C=
19g.38502846C>GCA070641RYR1c.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
19g.38502846C>TCA070642RYR1c.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
19g.38502846_38502847delinsCGCA2335054757RYR1c.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
19g.38502847G>ACA633066359RYR1c.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
19g.38502847G>CCA633066360RYR1c.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
19g.38502847G=CA2335054758RYR1c.7836-33G= (n.7836-33G=)
c.7833-33G= (n.7833-33G=)
c.1288-33G=
n.7919-33G=
19g.38502847G>TCA082810RYR1c.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
19g.38502851delCA2335054759RYR1c.7836-29del (n.7836-29del)
c.7833-29del (n.7833-29del)
c.1288-29del
n.7919-29del
dbSNP
19g.38502848G>ACA2584901115RYR1c.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
19g.38502848G>TCA2584901116RYR1c.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
19g.38502849G>ACA070640RYR1c.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
19g.38502849G>CCA308113188RYR1c.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
19g.38502849G=CA2335054760RYR1c.7836-31G= (n.7836-31G=)
c.7833-31G= (n.7833-31G=)
c.1288-31G=
n.7919-31G=
19g.38502849G>TCA2584901117RYR1c.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
19g.38502850G>ACA070634RYR1c.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
19g.38502850G>CCA2584901118RYR1c.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
19g.38502850G=CA2335054761RYR1c.7836-30G= (n.7836-30G=)
c.7833-30G= (n.7833-30G=)
c.1288-30G=
n.7919-30G=
19g.38502850G>TCA633066361RYR1c.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
19g.38502851G>ACA9415899RYR1c.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
19g.38502851G>CCA9415898RYR1c.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
19g.38502851G=CA2335054762RYR1c.7836-29G= (n.7836-29G=)
c.7833-29G= (n.7833-29G=)
c.1288-29G=
n.7919-29G=
19g.38502851G>TCA9415900RYR1c.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
19g.38502851_38502852delinsGACA2335054763RYR1c.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
19g.38502852delCA9415897RYR1c.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
19g.38502852A=CA2335054764RYR1c.7836-28A= (n.7836-28A=)
c.7833-28A= (n.7833-28A=)
c.1288-28A=
n.7919-28A=
19g.38502852A>CCA882054398RYR1c.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
19g.38502852A>GCA995719078RYR1c.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
19g.38502852A>TCA070614RYR1c.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
19g.38502852dupCA9415896RYR1c.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
19g.38502853T>CCA995719088RYR1c.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
19g.38502853T>GCA633066362RYR1c.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
19g.38502853T=CA2335054765RYR1c.7836-27T= (n.7836-27T=)
c.7833-27T= (n.7833-27T=)
c.1288-27T=
n.7919-27T=
19g.38502854T>ACA070607RYR1c.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
19g.38502854T>CCA070610RYR1c.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
19g.38502854T>GCA995719093RYR1c.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
19g.38502854T=CA2335054766RYR1c.7836-26T= (n.7836-26T=)
c.7833-26T= (n.7833-26T=)
c.1288-26T=
n.7919-26T=
19g.38502854_38502855delinsAACA082795RYR1c.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
19g.38502854_38502855insGCA2335054767RYR1c.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
19g.38502855C=CA2335054768RYR1c.7836-25C= (n.7836-25C=)
c.7833-25C= (n.7833-25C=)
c.1288-25C=
n.7919-25C=
19g.38502855C>GCA070598RYR1c.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
19g.38502855C>TCA082793RYR1c.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
19g.38502856T>ACA2584901119RYR1c.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
19g.38502856T>CCA633066363RYR1c.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
19g.38502856T=CA2335054769RYR1c.7836-24T= (n.7836-24T=)
c.7833-24T= (n.7833-24T=)
c.1288-24T=
n.7919-24T=
19g.38502857A=CA2335054770RYR1c.7836-23A= (n.7836-23A=)
c.7833-23A= (n.7833-23A=)
c.1288-23A=
n.7919-23A=
19g.38502857A>CCA995719104RYR1c.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
19g.38502857A>GCA070597RYR1c.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
19g.38502857A>TCA2518344338RYR1c.7836-23A>T (n.7836-23A>T)
c.7833-23A>T (n.7833-23A>T)
c.1288-23A>T
n.7919-23A>T
19g.38502858C>ACA633066364RYR1c.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
19g.38502858C=CA2335054771RYR1c.7836-22C= (n.7836-22C=)
c.7833-22C= (n.7833-22C=)
c.1288-22C=
n.7919-22C=
19g.38502858C>GCA082788RYR1c.7836-22C>G (n.7836-22C>G)
c.7833-22C>G (n.7833-22C>G)
c.1288-22C>G
n.7919-22C>G
19g.38502858C>TCA070591RYR1c.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
19g.38502859A=CA2335054772RYR1c.7836-21A= (n.7836-21A=)
c.7833-21A= (n.7833-21A=)
c.1288-21A=
n.7919-21A=
19g.38502859A>CCA070586RYR1c.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
19g.38502859A>GCA2335054773RYR1c.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
19g.38502859dupCA9415901RYR1c.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
19g.38502860T>ACA633066365RYR1c.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
19g.38502860T>GCA995719110RYR1c.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
19g.38502860T=CA2335054774RYR1c.7836-20T= (n.7836-20T=)
c.7833-20T= (n.7833-20T=)
c.1288-20T=
n.7919-20T=
19g.38502861C>ACA633066366RYR1c.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
19g.38502861C=CA2335054775RYR1c.7836-19C= (n.7836-19C=)
c.7833-19C= (n.7833-19C=)
c.1288-19C=
n.7919-19C=
19g.38502861C>GCA658799200RYR1c.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
19g.38502861C>TCA070582RYR1c.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
19g.38502862T>GCA070579RYR1c.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
19g.38502862T=CA2335054776RYR1c.7836-18T= (n.7836-18T=)
c.7833-18T= (n.7833-18T=)
c.1288-18T=
n.7919-18T=
19g.38502863T>ACA633066367RYR1c.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
19g.38502863T>CCA070575RYR1c.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
19g.38502863T>GCA633066368RYR1c.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
19g.38502863T=CA2335054777RYR1c.7836-17T= (n.7836-17T=)
c.7833-17T= (n.7833-17T=)
c.1288-17T=
n.7919-17T=
19g.38502864G>ACA070572RYR1c.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
19g.38502864G>CCA2584901120RYR1c.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
19g.38502864G=CA2335054778RYR1c.7836-16G= (n.7836-16G=)
c.7833-16G= (n.7833-16G=)
c.1288-16G=
n.7919-16G=
19g.38502864G>TCA2576771137RYR1c.7836-16G>T (n.7836-16G>T)
c.7833-16G>T (n.7833-16G>T)
c.1288-16G>T
n.7919-16G>T
19g.38502865T>ACA2584901121RYR1c.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
19g.38502865T>CCA2576771138RYR1c.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
19g.38502865T>GCA082780RYR1c.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
19g.38502865T=CA2335054779RYR1c.7836-15T= (n.7836-15T=)
c.7833-15T= (n.7833-15T=)
c.1288-15T=
n.7919-15T=
19g.38502866G>ACA882054462RYR1c.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
19g.38502866G=CA2335054780RYR1c.7836-14G= (n.7836-14G=)
c.7833-14G= (n.7833-14G=)
c.1288-14G=
n.7919-14G=
19g.38502866G>TCA308113278RYR1c.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
19g.38502867C>ACA308113279RYR1c.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
19g.38502867C=CA2335054781RYR1c.7836-13C= (n.7836-13C=)
c.7833-13C= (n.7833-13C=)
c.1288-13C=
n.7919-13C=
19g.38502867C>GCA10587320RYR1c.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
19g.38502867C>TCA070567RYR1c.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
19g.38502868A=CA2335054782RYR1c.7836-12A= (n.7836-12A=)
c.7833-12A= (n.7833-12A=)
c.1288-12A=
n.7919-12A=
19g.38502868A>CCA2584901122RYR1c.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
19g.38502868A>GCA308113289RYR1c.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
19g.38502869T>CCA070563RYR1c.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
19g.38502869T>GCA2580097217RYR1c.7836-11T>G (n.7836-11T>G)
c.7833-11T>G (n.7833-11T>G)
c.1288-11T>G
n.7919-11T>G
ClinVar
19g.38502869T=CA2335054783RYR1c.7836-11T= (n.7836-11T=)
c.7833-11T= (n.7833-11T=)
c.1288-11T=
n.7919-11T=
19g.38502870T>CCA2584901123RYR1c.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
19g.38502870T>GCA633066369RYR1c.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
19g.38502870T=CA2335054784RYR1c.7836-10T= (n.7836-10T=)
c.7833-10T= (n.7833-10T=)
c.1288-10T=
n.7919-10T=
19g.38502871G>ACA633066370RYR1c.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
19g.38502871G=CA2335054785RYR1c.7836-9G= (n.7836-9G=)
c.7833-9G= (n.7833-9G=)
c.1288-9G=
n.7919-9G=
19g.38502871G>TCA2335054786RYR1c.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
19g.38502872T>ACA2584901124RYR1c.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
19g.38502872T>CCA070784RYR1c.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
19g.38502872T=CA2335054787RYR1c.7836-8T= (n.7836-8T=)
c.7833-8T= (n.7833-8T=)
c.1288-8T=
n.7919-8T=
19g.38502873C=CA2335054788RYR1c.7836-7C= (n.7836-7C=)
c.7833-7C= (n.7833-7C=)
c.1288-7C=
n.7919-7C=
19g.38502873C>GCA2814347365RYR1c.7836-7C>G (n.7836-7C>G)
c.7833-7C>G (n.7833-7C>G)
c.1288-7C>G
n.7919-7C>G
19g.38502873C>TCA070780RYR1c.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
19g.38502874C=CA2335054789RYR1c.7836-6C= (n.7836-6C=)
c.7833-6C= (n.7833-6C=)
c.1288-6C=
n.7919-6C=
19g.38502874C>GCA308113304RYR1c.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
19g.38502874C>TCA070758RYR1c.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
19g.38502875C>ACA2499225471RYR1c.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
19g.38502875C=CA2335054790RYR1c.7836-5C= (n.7836-5C=)
c.7833-5C= (n.7833-5C=)
c.1288-5C=
n.7919-5C=
19g.38502875C>GCA633066371RYR1c.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
19g.38502875C>TCA633066372RYR1c.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
19g.38502876G>ACA070721RYR1c.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
19g.38502876G>CCA2584901125RYR1c.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
19g.38502876G=CA2335054791RYR1c.7836-4G= (n.7836-4G=)
c.7833-4G= (n.7833-4G=)
c.1288-4G=
n.7919-4G=
19g.38502876G>TCA645612040RYR1c.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
19g.38502877C>ACA2576771139RYR1c.7836-3C>A (n.7836-3C>A)
c.7833-3C>A (n.7833-3C>A)
c.1288-3C>A
n.7919-3C>A
19g.38502877C=CA2335054792RYR1c.7836-3C= (n.7836-3C=)
c.7833-3C= (n.7833-3C=)
c.1288-3C=
n.7919-3C=
19g.38502877C>GCA2580097218RYR1c.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
19g.38502877C>TCA082854RYR1c.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
19g.38502878A=CA2335054793RYR1c.7836-2A= (n.7836-2A=)
c.7833-2A= (n.7833-2A=)
c.1288-2A=
n.7919-2A=
19g.38502878A>CCA405673458RYR1c.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
19g.38502878A>GCA405673469RYR1c.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
19g.38502878A>TCA405673472RYR1c.7836-2A>T (n.7836-2A>T)
c.7833-2A>T (n.7833-2A>T)
c.1288-2A>T
n.7919-2A>T
19g.38502879G>ACA082842RYR1c.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
19g.38502879G>CCA405673477RYR1c.7836-1G>C (n.7836-1G>C)
c.7833-1G>C (n.7833-1G>C)
c.1288-1G>C
n.7919-1G>C
19g.38502879G=CA2335054794RYR1c.7836-1G= (n.7836-1G=)
c.7833-1G= (n.7833-1G=)
c.1288-1G=
n.7919-1G=
19g.38502879G>TCA405673480RYR1c.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
19g.38502880G>ACA024866RYR1c.7836G>A (p.Arg2612=)
c.7833G>A (p.Arg2611=)
c.1288G>A
n.7919G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502880G>CCA405673484RYR1c.7836G>C (p.Arg2612Ser)
c.7833G>C (p.Arg2611Ser)
c.1288G>C
n.7919G>C
19g.38502880G=CA2335054795RYR1c.7836G= (p.Arg2612=)
c.7833G= (p.Arg2611=)
c.1288G=
n.7919G=
19g.38502880G>TCA070796RYR1c.7836G>T (p.Arg2612Ser)
c.7833G>T (p.Arg2611Ser)
c.1288G>T
n.7919G>T
dbSNP ExAC gnomAD v3 gnomAD v4
19g.38502881T>ACA405673497RYR1c.7837T>A (p.Tyr2613Asn)
c.7834T>A (p.Tyr2612Asn)
c.1289T>A
n.7920T>A
gnomAD v4
19g.38502881T>CCA405673493RYR1c.7837T>C (p.Tyr2613His)
c.7834T>C (p.Tyr2612His)
c.1289T>C
n.7920T>C
gnomAD v4
19g.38502881T>GCA405673491RYR1c.7837T>G (p.Tyr2613Asp)
c.7834T>G (p.Tyr2612Asp)
c.1289T>G
n.7920T>G
dbSNP
19g.38502882A=CA2335054796RYR1c.7838A= (p.Tyr2613=)
c.7835A= (p.Tyr2612=)
c.1290A=
n.7921A=
19g.38502882A>CCA070800RYR1c.7838A>C (p.Tyr2613Ser)
c.7835A>C (p.Tyr2612Ser)
c.1290A>C
n.7921A>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502882A>GCA405673509RYR1c.7838A>G (p.Tyr2613Cys)
c.7835A>G (p.Tyr2612Cys)
c.1290A>G
n.7921A>G
dbSNP COSMIC
19g.38502882A>TCA405673511RYR1c.7838A>T (p.Tyr2613Phe)
c.7835A>T (p.Tyr2612Phe)
c.1290A>T
n.7921A>T
19g.38502883C>ACA405673513RYR1c.7839C>A (p.Tyr2613Ter)
c.7836C>A (p.Tyr2612Ter)
c.1291C>A
n.7922C>A
dbSNP
19g.38502883C=CA2335054797RYR1c.7839C= (p.Tyr2613=)
c.7836C= (p.Tyr2612=)
c.1291C=
n.7922C=
19g.38502883C>GCA405673515RYR1c.7839C>G (p.Tyr2613Ter)
c.7836C>G (p.Tyr2612Ter)
c.1291C>G
n.7922C>G
19g.38502883C>TCA070806RYR1c.7839C>T (p.Tyr2613=)
c.7836C>T (p.Tyr2612=)
c.1291C>T
n.7922C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502884A=CA2335054798RYR1c.7840A= (p.Ile2614=)
c.7837A= (p.Ile2613=)
c.1292A=
n.7923A=
19g.38502884A>CCA405673518RYR1c.7840A>C (p.Ile2614Leu)
c.7837A>C (p.Ile2613Leu)
c.1292A>C
n.7923A>C
19g.38502884A>GCA405673521RYR1c.7840A>G (p.Ile2614Val)
c.7837A>G (p.Ile2613Val)
c.1292A>G
n.7923A>G
dbSNP
19g.38502884A>TCA405673523RYR1c.7840A>T (p.Ile2614Phe)
c.7837A>T (p.Ile2613Phe)
c.1292A>T
n.7923A>T
19g.38502884_38502885insGGGGCCA082719RYR1c.7840_7841insGGGGC (p.Ile2614ArgfsTer?)
c.7837_7838insGGGGC (p.Ile2613ArgfsTer?)
c.1292_1293insGGGGC
n.7923_7924insGGGGC
19g.38502885T>ACA405673525RYR1c.7841T>A (p.Ile2614Asn)
c.7838T>A (p.Ile2613Asn)
c.1293T>A
n.7924T>A
ClinVar dbSNP gnomAD v4
19g.38502885T>CCA405673527RYR1c.7841T>C (p.Ile2614Thr)
c.7838T>C (p.Ile2613Thr)
c.1293T>C
n.7924T>C
dbSNP gnomAD v2 gnomAD v4
19g.38502885T>GCA405673529RYR1c.7841T>G (p.Ile2614Ser)
c.7838T>G (p.Ile2613Ser)
c.1293T>G
n.7924T>G
gnomAD v4
19g.38502885T=CA2335054799RYR1c.7841T= (p.Ile2614=)
c.7838T= (p.Ile2613=)
c.1293T=
n.7924T=
19g.38502886C>ACA507354024RYR1c.7842C>A (p.Ile2614=)
c.7839C>A (p.Ile2613=)
c.1294C>A
n.7925C>A
19g.38502886C=CA2335054800RYR1c.7842C= (p.Ile2614=)
c.7839C= (p.Ile2613=)
c.1294C=
n.7925C=
19g.38502886C>GCA405673531RYR1c.7842C>G (p.Ile2614Met)
c.7839C>G (p.Ile2613Met)
c.1294C>G
n.7925C>G
ClinVar gnomAD v4
19g.38502886C>TCA070814RYR1c.7842C>T (p.Ile2614=)
c.7839C>T (p.Ile2613=)
c.1294C>T
n.7925C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502886_38502887delinsAACA082762RYR1c.7842_7843delinsAA (p.Arg2615Ser)
c.7839_7840delinsAA (p.Arg2614Ser)
c.1294_1295delinsAA
n.7925_7926delinsAA
19g.38502887C>ACA405673540RYR1c.7843C>A (p.Arg2615Ser)
c.7840C>A (p.Arg2614Ser)
c.1295C>A
n.7926C>A
gnomAD v4
19g.38502887C=CA2335054801RYR1c.7843C= (p.Arg2615=)
c.7840C= (p.Arg2614=)
c.1295C=
n.7926C=
19g.38502887C>GCA405673541RYR1c.7843C>G (p.Arg2615Gly)
c.7840C>G (p.Arg2614Gly)
c.1295C>G
n.7926C>G
gnomAD v4
19g.38502887C>TCA405673535RYR1c.7843C>T (p.Arg2615Cys)
c.7840C>T (p.Arg2614Cys)
c.1295C>T
n.7926C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502888G>ACA070820RYR1c.7844G>A (p.Arg2615His)
c.7841G>A (p.Arg2614His)
c.1296G>A
n.7927G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502888G>CCA405673546RYR1c.7844G>C (p.Arg2615Pro)
c.7841G>C (p.Arg2614Pro)
c.1296G>C
n.7927G>C
gnomAD v4
19g.38502888G=CA2335054802RYR1c.7844G= (p.Arg2615=)
c.7841G= (p.Arg2614=)
c.1296G=
n.7927G=
19g.38502888G>TCA405673547RYR1c.7844G>T (p.Arg2615Leu)
c.7841G>T (p.Arg2614Leu)
c.1296G>T
n.7927G>T
gnomAD v4
19g.38502888_38502889delinsGCCA2335054803RYR1c.7844_7845delinsGC (p.Arg2615=)
c.7841_7842delinsGC (p.Arg2614=)
c.1296_1297delinsGC
n.7927_7928delinsGC
19g.38502889C>ACA507354030RYR1c.7845C>A (p.Arg2615=)
c.7842C>A (p.Arg2614=)
c.1297C>A
n.7928C>A
19g.38502889C=CA2335054804RYR1c.7845C= (p.Arg2615=)
c.7842C= (p.Arg2614=)
c.1297C=
n.7928C=
19g.38502889C>GCA082767RYR1c.7845C>G (p.Arg2615=)
c.7842C>G (p.Arg2614=)
c.1297C>G
n.7928C>G
ClinVar gnomAD v4
19g.38502889C>TCA082769RYR1c.7845C>T (p.Arg2615=)
c.7842C>T (p.Arg2614=)
c.1297C>T
n.7928C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502891delCA1139666424RYR1c.7847del (p.Pro2616ArgfsTer?)
c.7844del (p.Pro2615ArgfsTer?)
c.1299del
n.7930del
ClinVar dbSNP
19g.38502890C>ACA405673550RYR1c.7846C>A (p.Pro2616Thr)
c.7843C>A (p.Pro2615Thr)
c.1298C>A
n.7929C>A
gnomAD v4
19g.38502890C>GCA405673553RYR1c.7846C>G (p.Pro2616Ala)
c.7843C>G (p.Pro2615Ala)
c.1298C>G
n.7929C>G
19g.38502890C>TCA405673565RYR1c.7846C>T (p.Pro2616Ser)
c.7843C>T (p.Pro2615Ser)
c.1298C>T
n.7929C>T
ClinVar dbSNP gnomAD v4
19g.38502891C>ACA405673574RYR1c.7847C>A (p.Pro2616Gln)
c.7844C>A (p.Pro2615Gln)
c.1299C>A
n.7930C>A
19g.38502891C=CA2335054805RYR1c.7847C= (p.Pro2616=)
c.7844C= (p.Pro2615=)
c.1299C=
n.7930C=
19g.38502891C>GCA405673568RYR1c.7847C>G (p.Pro2616Arg)
c.7844C>G (p.Pro2615Arg)
c.1299C>G
n.7930C>G
ClinVar dbSNP
19g.38502891C>TCA405673570RYR1c.7847C>T (p.Pro2616Leu)
c.7844C>T (p.Pro2615Leu)
c.1299C>T
n.7930C>T
COSMIC
19g.38502892G>ACA070828RYR1c.7848G>A (p.Pro2616=)
c.7845G>A (p.Pro2615=)
c.1300G>A
n.7931G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502892G>CCA308113326RYR1c.7848G>C (p.Pro2616=)
c.7845G>C (p.Pro2615=)
c.1300G>C
n.7931G>C
ClinVar dbSNP gnomAD v4
19g.38502892G=CA2335054806RYR1c.7848G= (p.Pro2616=)
c.7845G= (p.Pro2615=)
c.1300G=
n.7931G=
19g.38502892G>TCA507354034RYR1c.7848G>T (p.Pro2616=)
c.7845G>T (p.Pro2615=)
c.1300G>T
n.7931G>T
ClinVar dbSNP gnomAD v4
19g.38502893T>ACA405673580RYR1c.7849T>A (p.Ser2617Thr)
c.7846T>A (p.Ser2616Thr)
c.1301T>A
n.7932T>A
19g.38502893T>CCA405673583RYR1c.7849T>C (p.Ser2617Pro)
c.7846T>C (p.Ser2616Pro)
c.1301T>C
n.7932T>C
gnomAD v4
19g.38502893T>GCA405673586RYR1c.7849T>G (p.Ser2617Ala)
c.7846T>G (p.Ser2616Ala)
c.1301T>G
n.7932T>G
19g.38502894C>ACA405673588RYR1c.7850C>A (p.Ser2617Ter)
c.7847C>A (p.Ser2616Ter)
c.1302C>A
n.7933C>A
ClinVar dbSNP
19g.38502894C=CA2335054807RYR1c.7850C= (p.Ser2617=)
c.7847C= (p.Ser2616=)
c.1302C=
n.7933C=
19g.38502894C>GCA082684RYR1c.7850C>G (p.Ser2617Trp)
c.7847C>G (p.Ser2616Trp)
c.1302C>G
n.7933C>G
ClinVar
19g.38502894C>TCA070831RYR1c.7850C>T (p.Ser2617Leu)
c.7847C>T (p.Ser2616Leu)
c.1302C>T
n.7933C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502895G>ACA070838RYR1c.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
19g.38502895G>CCA507354036RYR1c.7851G>C (p.Ser2617=)
c.7848G>C (p.Ser2616=)
c.1303G>C
n.7934G>C
gnomAD v4
19g.38502895G=CA2335054808RYR1c.7851G= (p.Ser2617=)
c.7848G= (p.Ser2616=)
c.1303G=
n.7934G=
19g.38502895G>TCA507354037RYR1c.7851G>T (p.Ser2617=)
c.7848G>T (p.Ser2616=)
c.1303G>T
n.7934G>T
ClinVar dbSNP gnomAD v4
19g.38502896A=CA2335054809RYR1c.7852A= (p.Met2618=)
c.7849A= (p.Met2617=)
c.1304A=
n.7935A=
19g.38502896A>CCA405673605RYR1c.7852A>C (p.Met2618Leu)
c.7849A>C (p.Met2617Leu)
c.1304A>C
n.7935A>C
gnomAD v4
19g.38502896A>GCA405673611RYR1c.7852A>G (p.Met2618Val)
c.7849A>G (p.Met2617Val)
c.1304A>G
n.7935A>G
dbSNP gnomAD v3 gnomAD v4
19g.38502896A>TCA405673614RYR1c.7852A>T (p.Met2618Leu)
c.7849A>T (p.Met2617Leu)
c.1304A>T
n.7935A>T
19g.38502897T>ACA405673629RYR1c.7853T>A (p.Met2618Lys)
c.7850T>A (p.Met2617Lys)
c.1305T>A
n.7936T>A
gnomAD v4
19g.38502897T>CCA070844RYR1c.7853T>C (p.Met2618Thr)
c.7850T>C (p.Met2617Thr)
c.1305T>C
n.7936T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502897T>GCA405673638RYR1c.7853T>G (p.Met2618Arg)
c.7850T>G (p.Met2617Arg)
c.1305T>G
n.7936T>G
ClinVar gnomAD v4
19g.38502897T=CA2335054810RYR1c.7853T= (p.Met2618=)
c.7850T= (p.Met2617=)
c.1305T=
n.7936T=
19g.38502898G>ACA070853RYR1c.7854G>A (p.Met2618Ile)
c.7851G>A (p.Met2617Ile)
c.1306G>A
n.7937G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502898G>CCA405673645RYR1c.7854G>C (p.Met2618Ile)
c.7851G>C (p.Met2617Ile)
c.1306G>C
n.7937G>C
19g.38502898G=CA2335054811RYR1c.7854G= (p.Met2618=)
c.7851G= (p.Met2617=)
c.1306G=
n.7937G=
19g.38502898G>TCA405673648RYR1c.7854G>T (p.Met2618Ile)
c.7851G>T (p.Met2617Ile)
c.1306G>T
n.7937G>T
gnomAD v4
19g.38502899delCA2584901126RYR1c.7855del (p.Leu2619CysfsTer?)
c.7852del (p.Leu2618CysfsTer?)
c.1307del
n.7938del
gnomAD v4
19g.38502899C>ACA405673651RYR1c.7855C>A (p.Leu2619Met)
c.7852C>A (p.Leu2618Met)
c.1307C>A
n.7938C>A
19g.38502899C=CA2335054812RYR1c.7855C= (p.Leu2619=)
c.7852C= (p.Leu2618=)
c.1307C=
n.7938C=
19g.38502899C>GCA405673653RYR1c.7855C>G (p.Leu2619Val)
c.7852C>G (p.Leu2618Val)
c.1307C>G
n.7938C>G
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502899C>TCA070859RYR1c.7855C>T (p.Leu2619=)
c.7852C>T (p.Leu2618=)
c.1307C>T
n.7938C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502900T>ACA405673656RYR1c.7856T>A (p.Leu2619Gln)
c.7853T>A (p.Leu2618Gln)
c.1308T>A
n.7939T>A
dbSNP gnomAD v2
19g.38502900T>CCA082875RYR1c.7856T>C (p.Leu2619Pro)
c.7853T>C (p.Leu2618Pro)
c.1308T>C
n.7939T>C
ClinVar dbSNP
19g.38502900T>GCA405673657RYR1c.7856T>G (p.Leu2619Arg)
c.7853T>G (p.Leu2618Arg)
c.1308T>G
n.7939T>G
19g.38502900T=CA2335054813RYR1c.7856T= (p.Leu2619=)
c.7853T= (p.Leu2618=)
c.1308T=
n.7939T=
19g.38502901_38502902insAGGGTGCA082695RYR1c.7857_7858insAGGGTG (p.Leu2619_Gln2620insArgVal)
c.7854_7855insAGGGTG (p.Leu2618_Gln2619insArgVal)
c.1309_1310insAGGGTG
n.7940_7941insAGGGTG
19g.38502901G>ACA070866RYR1c.7857G>A (p.Leu2619=)
c.7854G>A (p.Leu2618=)
c.1309G>A
n.7940G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502901G>CCA507354040RYR1c.7857G>C (p.Leu2619=)
c.7854G>C (p.Leu2618=)
c.1309G>C
n.7940G>C
ClinVar dbSNP gnomAD v4
19g.38502901G=CA2335054814RYR1c.7857G= (p.Leu2619=)
c.7854G= (p.Leu2618=)
c.1309G=
n.7940G=
19g.38502901G>TCA507354039RYR1c.7857G>T (p.Leu2619=)
c.7854G>T (p.Leu2618=)
c.1309G>T
n.7940G>T
gnomAD v4
19g.38502902C>ACA405673663RYR1c.7858C>A (p.Gln2620Lys)
c.7855C>A (p.Gln2619Lys)
c.1310C>A
n.7941C>A
dbSNP
19g.38502902C=CA2335054815RYR1c.7858C= (p.Gln2620=)
c.7855C= (p.Gln2619=)
c.1310C=
n.7941C=
19g.38502902C>GCA405673659RYR1c.7858C>G (p.Gln2620Glu)
c.7855C>G (p.Gln2619Glu)
c.1310C>G
n.7941C>G
gnomAD v4
19g.38502902C>TCA082877RYR1c.7858C>T (p.Gln2620Ter)
c.7855C>T (p.Gln2619Ter)
c.1310C>T
n.7941C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502903A=CA2335054816RYR1c.7859A= (p.Gln2620=)
c.7856A= (p.Gln2619=)
c.1311A=
n.7942A=
19g.38502903A>CCA405673674RYR1c.7859A>C (p.Gln2620Pro)
c.7856A>C (p.Gln2619Pro)
c.1311A>C
n.7942A>C
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502903A>GCA405673676RYR1c.7859A>G (p.Gln2620Arg)
c.7856A>G (p.Gln2619Arg)
c.1311A>G
n.7942A>G
19g.38502903A>TCA405673680RYR1c.7859A>T (p.Gln2620Leu)
c.7856A>T (p.Gln2619Leu)
c.1311A>T
n.7942A>T
19g.38502904G>ACA070869RYR1c.7860G>A (p.Gln2620=)
c.7857G>A (p.Gln2619=)
c.1312G>A
n.7943G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502904G>CCA405673688RYR1c.7860G>C (p.Gln2620His)
c.7857G>C (p.Gln2619His)
c.1312G>C
n.7943G>C
19g.38502904G=CA2335054817RYR1c.7860G= (p.Gln2620=)
c.7857G= (p.Gln2619=)
c.1312G=
n.7943G=
19g.38502904G>TCA405673689RYR1c.7860G>T (p.Gln2620His)
c.7857G>T (p.Gln2619His)
c.1312G>T
n.7943G>T
19g.38502905C>ACA405673691RYR1c.7861C>A (p.His2621Asn)
c.7858C>A (p.His2620Asn)
c.1313C>A
n.7944C>A
19g.38502905C=CA2335054818RYR1c.7861C= (p.His2621=)
c.7858C= (p.His2620=)
c.1313C=
n.7944C=
19g.38502905C>GCA405673693RYR1c.7861C>G (p.His2621Asp)
c.7858C>G (p.His2620Asp)
c.1313C>G
n.7944C>G
19g.38502905C>TCA070877RYR1c.7861C>T (p.His2621Tyr)
c.7858C>T (p.His2620Tyr)
c.1313C>T
n.7944C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502906A=CA2335054819RYR1c.7862A= (p.His2621=)
c.7859A= (p.His2620=)
c.1314A=
n.7945A=
19g.38502906A>CCA405673706RYR1c.7862A>C (p.His2621Pro)
c.7859A>C (p.His2620Pro)
c.1314A>C
n.7945A>C
dbSNP gnomAD v3 gnomAD v4
19g.38502906A>GCA405673700RYR1c.7862A>G (p.His2621Arg)
c.7859A>G (p.His2620Arg)
c.1314A>G
n.7945A>G
dbSNP gnomAD v2 gnomAD v4
19g.38502906A>TCA405673703RYR1c.7862A>T (p.His2621Leu)
c.7859A>T (p.His2620Leu)
c.1314A>T
n.7945A>T
19g.38502907C>ACA405673709RYR1c.7863C>A (p.His2621Gln)
c.7860C>A (p.His2620Gln)
c.1315C>A
n.7946C>A
19g.38502907C=CA2335054820RYR1c.7863C= (p.His2621=)
c.7860C= (p.His2620=)
c.1315C=
n.7946C=
19g.38502907C>GCA405673729RYR1c.7863C>G (p.His2621Gln)
c.7860C>G (p.His2620Gln)
c.1315C>G
n.7946C>G
ClinVar dbSNP gnomAD v4
19g.38502907C>TCA024868RYR1c.7863C>T (p.His2621=)
c.7860C>T (p.His2620=)
c.1315C>T
n.7946C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502907_38502908delinsCCCA2335054821RYR1c.7863_7864delinsCC (p.His2621=)
c.7860_7861delinsCC (p.His2620=)
c.1315_1316delinsCC
n.7946_7947delinsCC
19g.38502907_38502908delinsTTCA915952999RYR1c.7863_7864delinsTT (p.His2621=)
c.7860_7861delinsTT (p.His2620=)
c.1315_1316delinsTT
n.7946_7947delinsTT
ClinVar dbSNP
19g.38502908C>ACA405673732RYR1c.7864C>A (p.Leu2622Met)
c.7861C>A (p.Leu2621Met)
c.1316C>A
n.7947C>A
19g.38502908C=CA2335054822RYR1c.7864C= (p.Leu2622=)
c.7861C= (p.Leu2621=)
c.1316C=
n.7947C=
19g.38502908C>GCA405673733RYR1c.7864C>G (p.Leu2622Val)
c.7861C>G (p.Leu2621Val)
c.1316C>G
n.7947C>G
gnomAD v4
19g.38502908C>TCA082716RYR1c.7864C>T (p.Leu2622=)
c.7861C>T (p.Leu2621=)
c.1316C>T
n.7947C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502909T>ACA405673738RYR1c.7865T>A (p.Leu2622Gln)
c.7862T>A (p.Leu2621Gln)
c.1317T>A
n.7948T>A
19g.38502909T>CCA405673741RYR1c.7865T>C (p.Leu2622Pro)
c.7862T>C (p.Leu2621Pro)
c.1317T>C
n.7948T>C
gnomAD v4
19g.38502909T>GCA405673744RYR1c.7865T>G (p.Leu2622Arg)
c.7862T>G (p.Leu2621Arg)
c.1317T>G
n.7948T>G
19g.38502911_38502913delCA082721RYR1c.7867_7869del (p.Leu2623del)
c.7864_7866del (p.Leu2622del)
c.1319_1321del
n.7950_7952del
19g.38502910G>ACA507354045RYR1c.7866G>A (p.Leu2622=)
c.7863G>A (p.Leu2621=)
c.1318G>A
n.7949G>A
ClinVar dbSNP gnomAD v4
19g.38502910G>CCA507354046RYR1c.7866G>C (p.Leu2622=)
c.7863G>C (p.Leu2621=)
c.1318G>C
n.7949G>C
ClinVar dbSNP
19g.38502910G=CA2335054823RYR1c.7866G= (p.Leu2622=)
c.7863G= (p.Leu2621=)
c.1318G=
n.7949G=
19g.38502910G>TCA507354047RYR1c.7866G>T (p.Leu2622=)
c.7863G>T (p.Leu2621=)
c.1318G>T
n.7949G>T
ClinVar gnomAD v4

Number of alleles fetched