Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.237784329_237784331delCA2573051535RYR2c.*3709_*3711del (n.*3709_*3711del)
c.12605_12607del (p.Ile4202_Ser4203delinsThr)
c.12638_12640del (p.Ile4213_Ser4214delinsThr)
c.4794_4796del
c.12617_12619del (p.Ile4206_Ser4207delinsThr)
c.2670_2672del
c.12569_12571del (p.Ile4190_Ser4191delinsThr)
n.3812_3814del
c.12671_12673del (p.Ile4224_Ser4225delinsThr)
c.12668_12670del (p.Ile4223_Ser4224delinsThr)
c.12647_12649del (p.Ile4216_Ser4217delinsThr)
c.12641_12643del (p.Ile4214_Ser4215delinsThr)
c.12635_12637del (p.Ile4212_Ser4213delinsThr)
c.12611_12613del (p.Ile4204_Ser4205delinsThr)
c.12434_12436del (p.Ile4145_Ser4146delinsThr)
c.12578_12580del (p.Ile4193_Ser4194delinsThr)
c.12650_12652del (p.Ile4217_Ser4218delinsThr)
 ClinVar dbSNP
1g.237784330C>ACA424032062RYR2c.*3710C>A (n.*3710C>A)
c.12606C>A (p.Ile4202=)
c.12639C>A (p.Ile4213=)
c.4795C>A
c.12618C>A (p.Ile4206=)
c.2671C>A
c.12570C>A (p.Ile4190=)
n.3813C>A
c.12672C>A (p.Ile4224=)
c.12669C>A (p.Ile4223=)
c.12648C>A (p.Ile4216=)
c.12642C>A (p.Ile4214=)
c.12636C>A (p.Ile4212=)
c.12612C>A (p.Ile4204=)
c.12435C>A (p.Ile4145=)
c.12579C>A (p.Ile4193=)
c.12651C>A (p.Ile4217=)
1g.237784330C>GCA345413759RYR2c.*3710C>G (n.*3710C>G)
c.12606C>G (p.Ile4202Met)
c.12639C>G (p.Ile4213Met)
c.4795C>G
c.12618C>G (p.Ile4206Met)
c.2671C>G
c.12570C>G (p.Ile4190Met)
n.3813C>G
c.12672C>G (p.Ile4224Met)
c.12669C>G (p.Ile4223Met)
c.12648C>G (p.Ile4216Met)
c.12642C>G (p.Ile4214Met)
c.12636C>G (p.Ile4212Met)
c.12612C>G (p.Ile4204Met)
c.12435C>G (p.Ile4145Met)
c.12579C>G (p.Ile4193Met)
c.12651C>G (p.Ile4217Met)
1g.237784330C>TCA424032064RYR2c.*3710C>T (n.*3710C>T)
c.12606C>T (p.Ile4202=)
c.12639C>T (p.Ile4213=)
c.4795C>T
c.12618C>T (p.Ile4206=)
c.2671C>T
c.12570C>T (p.Ile4190=)
n.3813C>T
c.12672C>T (p.Ile4224=)
c.12669C>T (p.Ile4223=)
c.12648C>T (p.Ile4216=)
c.12642C>T (p.Ile4214=)
c.12636C>T (p.Ile4212=)
c.12612C>T (p.Ile4204=)
c.12435C>T (p.Ile4145=)
c.12579C>T (p.Ile4193=)
c.12651C>T (p.Ile4217=)
1g.237784331T>ACA345413760RYR2c.*3711T>A (n.*3711T>A)
c.12607T>A (p.Ser4203Thr)
c.12640T>A (p.Ser4214Thr)
c.4796T>A
c.12619T>A (p.Ser4207Thr)
c.2672T>A
c.12571T>A (p.Ser4191Thr)
n.3814T>A
c.12673T>A (p.Ser4225Thr)
c.12670T>A (p.Ser4224Thr)
c.12649T>A (p.Ser4217Thr)
c.12643T>A (p.Ser4215Thr)
c.12637T>A (p.Ser4213Thr)
c.12613T>A (p.Ser4205Thr)
c.12436T>A (p.Ser4146Thr)
c.12580T>A (p.Ser4194Thr)
c.12652T>A (p.Ser4218Thr)
1g.237784331T>CCA345413761RYR2c.*3711T>C (n.*3711T>C)
c.12607T>C (p.Ser4203Pro)
c.12640T>C (p.Ser4214Pro)
c.4796T>C
c.12619T>C (p.Ser4207Pro)
c.2672T>C
c.12571T>C (p.Ser4191Pro)
n.3814T>C
c.12673T>C (p.Ser4225Pro)
c.12670T>C (p.Ser4224Pro)
c.12649T>C (p.Ser4217Pro)
c.12643T>C (p.Ser4215Pro)
c.12637T>C (p.Ser4213Pro)
c.12613T>C (p.Ser4205Pro)
c.12436T>C (p.Ser4146Pro)
c.12580T>C (p.Ser4194Pro)
c.12652T>C (p.Ser4218Pro)
1g.237784331T>GCA345413762RYR2c.*3711T>G (n.*3711T>G)
c.12607T>G (p.Ser4203Ala)
c.12640T>G (p.Ser4214Ala)
c.4796T>G
c.12619T>G (p.Ser4207Ala)
c.2672T>G
c.12571T>G (p.Ser4191Ala)
n.3814T>G
c.12673T>G (p.Ser4225Ala)
c.12670T>G (p.Ser4224Ala)
c.12649T>G (p.Ser4217Ala)
c.12643T>G (p.Ser4215Ala)
c.12637T>G (p.Ser4213Ala)
c.12613T>G (p.Ser4205Ala)
c.12436T>G (p.Ser4146Ala)
c.12580T>G (p.Ser4194Ala)
c.12652T>G (p.Ser4218Ala)
1g.237784332C>ACA345413763RYR2c.*3712C>A (n.*3712C>A)
c.12608C>A (p.Ser4203Ter)
c.12641C>A (p.Ser4214Ter)
c.4797C>A
c.12620C>A (p.Ser4207Ter)
c.2673C>A
c.12572C>A (p.Ser4191Ter)
n.3815C>A
c.12674C>A (p.Ser4225Ter)
c.12671C>A (p.Ser4224Ter)
c.12650C>A (p.Ser4217Ter)
c.12644C>A (p.Ser4215Ter)
c.12638C>A (p.Ser4213Ter)
c.12614C>A (p.Ser4205Ter)
c.12437C>A (p.Ser4146Ter)
c.12581C>A (p.Ser4194Ter)
c.12653C>A (p.Ser4218Ter)
 ClinVar dbSNP
1g.237784332C>GCA345413764RYR2c.*3712C>G (n.*3712C>G)
c.12608C>G (p.Ser4203Trp)
c.12641C>G (p.Ser4214Trp)
c.4797C>G
c.12620C>G (p.Ser4207Trp)
c.2673C>G
c.12572C>G (p.Ser4191Trp)
n.3815C>G
c.12674C>G (p.Ser4225Trp)
c.12671C>G (p.Ser4224Trp)
c.12650C>G (p.Ser4217Trp)
c.12644C>G (p.Ser4215Trp)
c.12638C>G (p.Ser4213Trp)
c.12614C>G (p.Ser4205Trp)
c.12437C>G (p.Ser4146Trp)
c.12581C>G (p.Ser4194Trp)
c.12653C>G (p.Ser4218Trp)
1g.237784332C>TCA345413765RYR2c.*3712C>T (n.*3712C>T)
c.12608C>T (p.Ser4203Leu)
c.12641C>T (p.Ser4214Leu)
c.4797C>T
c.12620C>T (p.Ser4207Leu)
c.2673C>T
c.12572C>T (p.Ser4191Leu)
n.3815C>T
c.12674C>T (p.Ser4225Leu)
c.12671C>T (p.Ser4224Leu)
c.12650C>T (p.Ser4217Leu)
c.12644C>T (p.Ser4215Leu)
c.12638C>T (p.Ser4213Leu)
c.12614C>T (p.Ser4205Leu)
c.12437C>T (p.Ser4146Leu)
c.12581C>T (p.Ser4194Leu)
c.12653C>T (p.Ser4218Leu)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
1g.237784333G>ACA066530RYR2c.*3713G>A (n.*3713G>A)
c.12609G>A (p.Ser4203=)
c.12642G>A (p.Ser4214=)
c.4798G>A
c.12621G>A (p.Ser4207=)
c.2674G>A
c.12573G>A (p.Ser4191=)
n.3816G>A
c.12675G>A (p.Ser4225=)
c.12672G>A (p.Ser4224=)
c.12651G>A (p.Ser4217=)
c.12645G>A (p.Ser4215=)
c.12639G>A (p.Ser4213=)
c.12615G>A (p.Ser4205=)
c.12438G>A (p.Ser4146=)
c.12582G>A (p.Ser4194=)
c.12654G>A (p.Ser4218=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.237784333G>CCA424032071RYR2c.*3713G>C (n.*3713G>C)
c.12609G>C (p.Ser4203=)
c.12642G>C (p.Ser4214=)
c.4798G>C
c.12621G>C (p.Ser4207=)
c.2674G>C
c.12573G>C (p.Ser4191=)
n.3816G>C
c.12675G>C (p.Ser4225=)
c.12672G>C (p.Ser4224=)
c.12651G>C (p.Ser4217=)
c.12645G>C (p.Ser4215=)
c.12639G>C (p.Ser4213=)
c.12615G>C (p.Ser4205=)
c.12438G>C (p.Ser4146=)
c.12582G>C (p.Ser4194=)
c.12654G>C (p.Ser4218=)
1g.237784333G=CA2487482476RYR2c.*3713G= (n.*3713G=)
c.12609G= (p.Ser4203=)
c.12642G= (p.Ser4214=)
c.4798G=
c.12621G= (p.Ser4207=)
c.2674G=
c.12573G= (p.Ser4191=)
n.3816G=
c.12675G= (p.Ser4225=)
c.12672G= (p.Ser4224=)
c.12651G= (p.Ser4217=)
c.12645G= (p.Ser4215=)
c.12639G= (p.Ser4213=)
c.12615G= (p.Ser4205=)
c.12438G= (p.Ser4146=)
c.12582G= (p.Ser4194=)
c.12654G= (p.Ser4218=)
1g.237784333G>TCA424032074RYR2c.*3713G>T (n.*3713G>T)
c.12609G>T (p.Ser4203=)
c.12642G>T (p.Ser4214=)
c.4798G>T
c.12621G>T (p.Ser4207=)
c.2674G>T
c.12573G>T (p.Ser4191=)
n.3816G>T
c.12675G>T (p.Ser4225=)
c.12672G>T (p.Ser4224=)
c.12651G>T (p.Ser4217=)
c.12645G>T (p.Ser4215=)
c.12639G>T (p.Ser4213=)
c.12615G>T (p.Ser4205=)
c.12438G>T (p.Ser4146=)
c.12582G>T (p.Ser4194=)
c.12654G>T (p.Ser4218=)
1g.237784334G>ACA345413766RYR2c.*3714G>A (n.*3714G>A)
c.12610G>A (p.Glu4204Lys)
c.12643G>A (p.Glu4215Lys)
c.4799G>A
c.12622G>A (p.Glu4208Lys)
c.2675G>A
c.12574G>A (p.Glu4192Lys)
n.3817G>A
c.12676G>A (p.Glu4226Lys)
c.12673G>A (p.Glu4225Lys)
c.12652G>A (p.Glu4218Lys)
c.12646G>A (p.Glu4216Lys)
c.12640G>A (p.Glu4214Lys)
c.12616G>A (p.Glu4206Lys)
c.12439G>A (p.Glu4147Lys)
c.12583G>A (p.Glu4195Lys)
c.12655G>A (p.Glu4219Lys)
 COSMIC COSMIC
1g.237784334G>CCA345413767RYR2c.*3714G>C (n.*3714G>C)
c.12610G>C (p.Glu4204Gln)
c.12643G>C (p.Glu4215Gln)
c.4799G>C
c.12622G>C (p.Glu4208Gln)
c.2675G>C
c.12574G>C (p.Glu4192Gln)
n.3817G>C
c.12676G>C (p.Glu4226Gln)
c.12673G>C (p.Glu4225Gln)
c.12652G>C (p.Glu4218Gln)
c.12646G>C (p.Glu4216Gln)
c.12640G>C (p.Glu4214Gln)
c.12616G>C (p.Glu4206Gln)
c.12439G>C (p.Glu4147Gln)
c.12583G>C (p.Glu4195Gln)
c.12655G>C (p.Glu4219Gln)
1g.237784334G>TCA345413768RYR2c.*3714G>T (n.*3714G>T)
c.12610G>T (p.Glu4204Ter)
c.12643G>T (p.Glu4215Ter)
c.4799G>T
c.12622G>T (p.Glu4208Ter)
c.2675G>T
c.12574G>T (p.Glu4192Ter)
n.3817G>T
c.12676G>T (p.Glu4226Ter)
c.12673G>T (p.Glu4225Ter)
c.12652G>T (p.Glu4218Ter)
c.12646G>T (p.Glu4216Ter)
c.12640G>T (p.Glu4214Ter)
c.12616G>T (p.Glu4206Ter)
c.12439G>T (p.Glu4147Ter)
c.12583G>T (p.Glu4195Ter)
c.12655G>T (p.Glu4219Ter)
 COSMIC COSMIC
1g.237784335A=CA2487482477RYR2c.*3715A= (n.*3715A=)
c.12611A= (p.Glu4204=)
c.12644A= (p.Glu4215=)
c.4800A=
c.12623A= (p.Glu4208=)
c.2676A=
c.12575A= (p.Glu4192=)
n.3818A=
c.12677A= (p.Glu4226=)
c.12674A= (p.Glu4225=)
c.12653A= (p.Glu4218=)
c.12647A= (p.Glu4216=)
c.12641A= (p.Glu4214=)
c.12617A= (p.Glu4206=)
c.12440A= (p.Glu4147=)
c.12584A= (p.Glu4195=)
c.12656A= (p.Glu4219=)
1g.237784335A>CCA345413770RYR2c.*3715A>C (n.*3715A>C)
c.12611A>C (p.Glu4204Ala)
c.12644A>C (p.Glu4215Ala)
c.4800A>C
c.12623A>C (p.Glu4208Ala)
c.2676A>C
c.12575A>C (p.Glu4192Ala)
n.3818A>C
c.12677A>C (p.Glu4226Ala)
c.12674A>C (p.Glu4225Ala)
c.12653A>C (p.Glu4218Ala)
c.12647A>C (p.Glu4216Ala)
c.12641A>C (p.Glu4214Ala)
c.12617A>C (p.Glu4206Ala)
c.12440A>C (p.Glu4147Ala)
c.12584A>C (p.Glu4195Ala)
c.12656A>C (p.Glu4219Ala)
1g.237784335A>GCA345413771RYR2c.*3715A>G (n.*3715A>G)
c.12611A>G (p.Glu4204Gly)
c.12644A>G (p.Glu4215Gly)
c.4800A>G
c.12623A>G (p.Glu4208Gly)
c.2676A>G
c.12575A>G (p.Glu4192Gly)
n.3818A>G
c.12677A>G (p.Glu4226Gly)
c.12674A>G (p.Glu4225Gly)
c.12653A>G (p.Glu4218Gly)
c.12647A>G (p.Glu4216Gly)
c.12641A>G (p.Glu4214Gly)
c.12617A>G (p.Glu4206Gly)
c.12440A>G (p.Glu4147Gly)
c.12584A>G (p.Glu4195Gly)
c.12656A>G (p.Glu4219Gly)
 ClinVar dbSNP
1g.237784335A>TCA345413769RYR2c.*3715A>T (n.*3715A>T)
c.12611A>T (p.Glu4204Val)
c.12644A>T (p.Glu4215Val)
c.4800A>T
c.12623A>T (p.Glu4208Val)
c.2676A>T
c.12575A>T (p.Glu4192Val)
n.3818A>T
c.12677A>T (p.Glu4226Val)
c.12674A>T (p.Glu4225Val)
c.12653A>T (p.Glu4218Val)
c.12647A>T (p.Glu4216Val)
c.12641A>T (p.Glu4214Val)
c.12617A>T (p.Glu4206Val)
c.12440A>T (p.Glu4147Val)
c.12584A>T (p.Glu4195Val)
c.12656A>T (p.Glu4219Val)
1g.237784336G>ACA424032081RYR2c.*3716G>A (n.*3716G>A)
c.12612G>A (p.Glu4204=)
c.12645G>A (p.Glu4215=)
c.4801G>A
c.12624G>A (p.Glu4208=)
c.2677G>A
c.12576G>A (p.Glu4192=)
n.3819G>A
c.12678G>A (p.Glu4226=)
c.12675G>A (p.Glu4225=)
c.12654G>A (p.Glu4218=)
c.12648G>A (p.Glu4216=)
c.12642G>A (p.Glu4214=)
c.12618G>A (p.Glu4206=)
c.12441G>A (p.Glu4147=)
c.12585G>A (p.Glu4195=)
c.12657G>A (p.Glu4219=)
 ClinVar dbSNP
1g.237784336G>CCA345413773RYR2c.*3716G>C (n.*3716G>C)
c.12612G>C (p.Glu4204Asp)
c.12645G>C (p.Glu4215Asp)
c.4801G>C
c.12624G>C (p.Glu4208Asp)
c.2677G>C
c.12576G>C (p.Glu4192Asp)
n.3819G>C
c.12678G>C (p.Glu4226Asp)
c.12675G>C (p.Glu4225Asp)
c.12654G>C (p.Glu4218Asp)
c.12648G>C (p.Glu4216Asp)
c.12642G>C (p.Glu4214Asp)
c.12618G>C (p.Glu4206Asp)
c.12441G>C (p.Glu4147Asp)
c.12585G>C (p.Glu4195Asp)
c.12657G>C (p.Glu4219Asp)
1g.237784336G=CA2487482478RYR2c.*3716G= (n.*3716G=)
c.12612G= (p.Glu4204=)
c.12645G= (p.Glu4215=)
c.4801G=
c.12624G= (p.Glu4208=)
c.2677G=
c.12576G= (p.Glu4192=)
n.3819G=
c.12678G= (p.Glu4226=)
c.12675G= (p.Glu4225=)
c.12654G= (p.Glu4218=)
c.12648G= (p.Glu4216=)
c.12642G= (p.Glu4214=)
c.12618G= (p.Glu4206=)
c.12441G= (p.Glu4147=)
c.12585G= (p.Glu4195=)
c.12657G= (p.Glu4219=)
1g.237784336G>TCA345413772RYR2c.*3716G>T (n.*3716G>T)
c.12612G>T (p.Glu4204Asp)
c.12645G>T (p.Glu4215Asp)
c.4801G>T
c.12624G>T (p.Glu4208Asp)
c.2677G>T
c.12576G>T (p.Glu4192Asp)
n.3819G>T
c.12678G>T (p.Glu4226Asp)
c.12675G>T (p.Glu4225Asp)
c.12654G>T (p.Glu4218Asp)
c.12648G>T (p.Glu4216Asp)
c.12642G>T (p.Glu4214Asp)
c.12618G>T (p.Glu4206Asp)
c.12441G>T (p.Glu4147Asp)
c.12585G>T (p.Glu4195Asp)
c.12657G>T (p.Glu4219Asp)
1g.237784337T>ACA345413776RYR2c.*3717T>A (n.*3717T>A)
c.12613T>A (p.Ser4205Thr)
c.12646T>A (p.Ser4216Thr)
c.4802T>A
c.12625T>A (p.Ser4209Thr)
c.2678T>A
c.12577T>A (p.Ser4193Thr)
n.3820T>A
c.12679T>A (p.Ser4227Thr)
c.12676T>A (p.Ser4226Thr)
c.12655T>A (p.Ser4219Thr)
c.12649T>A (p.Ser4217Thr)
c.12643T>A (p.Ser4215Thr)
c.12619T>A (p.Ser4207Thr)
c.12442T>A (p.Ser4148Thr)
c.12586T>A (p.Ser4196Thr)
c.12658T>A (p.Ser4220Thr)
1g.237784337T>CCA345413774RYR2c.*3717T>C (n.*3717T>C)
c.12613T>C (p.Ser4205Pro)
c.12646T>C (p.Ser4216Pro)
c.4802T>C
c.12625T>C (p.Ser4209Pro)
c.2678T>C
c.12577T>C (p.Ser4193Pro)
n.3820T>C
c.12679T>C (p.Ser4227Pro)
c.12676T>C (p.Ser4226Pro)
c.12655T>C (p.Ser4219Pro)
c.12649T>C (p.Ser4217Pro)
c.12643T>C (p.Ser4215Pro)
c.12619T>C (p.Ser4207Pro)
c.12442T>C (p.Ser4148Pro)
c.12586T>C (p.Ser4196Pro)
c.12658T>C (p.Ser4220Pro)
1g.237784337T>GCA345413775RYR2c.*3717T>G (n.*3717T>G)
c.12613T>G (p.Ser4205Ala)
c.12646T>G (p.Ser4216Ala)
c.4802T>G
c.12625T>G (p.Ser4209Ala)
c.2678T>G
c.12577T>G (p.Ser4193Ala)
n.3820T>G
c.12679T>G (p.Ser4227Ala)
c.12676T>G (p.Ser4226Ala)
c.12655T>G (p.Ser4219Ala)
c.12649T>G (p.Ser4217Ala)
c.12643T>G (p.Ser4215Ala)
c.12619T>G (p.Ser4207Ala)
c.12442T>G (p.Ser4148Ala)
c.12586T>G (p.Ser4196Ala)
c.12658T>G (p.Ser4220Ala)
 gnomAD v4
1g.237784338C>ACA345413777RYR2c.*3718C>A (n.*3718C>A)
c.12614C>A (p.Ser4205Ter)
c.12647C>A (p.Ser4216Ter)
c.4803C>A
c.12626C>A (p.Ser4209Ter)
c.2679C>A
c.12578C>A (p.Ser4193Ter)
n.3821C>A
c.12680C>A (p.Ser4227Ter)
c.12677C>A (p.Ser4226Ter)
c.12656C>A (p.Ser4219Ter)
c.12650C>A (p.Ser4217Ter)
c.12644C>A (p.Ser4215Ter)
c.12620C>A (p.Ser4207Ter)
c.12443C>A (p.Ser4148Ter)
c.12587C>A (p.Ser4196Ter)
c.12659C>A (p.Ser4220Ter)
1g.237784338C>GCA345413778RYR2c.*3718C>G (n.*3718C>G)
c.12614C>G (p.Ser4205Trp)
c.12647C>G (p.Ser4216Trp)
c.4803C>G
c.12626C>G (p.Ser4209Trp)
c.2679C>G
c.12578C>G (p.Ser4193Trp)
n.3821C>G
c.12680C>G (p.Ser4227Trp)
c.12677C>G (p.Ser4226Trp)
c.12656C>G (p.Ser4219Trp)
c.12650C>G (p.Ser4217Trp)
c.12644C>G (p.Ser4215Trp)
c.12620C>G (p.Ser4207Trp)
c.12443C>G (p.Ser4148Trp)
c.12587C>G (p.Ser4196Trp)
c.12659C>G (p.Ser4220Trp)
1g.237784338C>TCA345413779RYR2c.*3718C>T (n.*3718C>T)
c.12614C>T (p.Ser4205Leu)
c.12647C>T (p.Ser4216Leu)
c.4803C>T
c.12626C>T (p.Ser4209Leu)
c.2679C>T
c.12578C>T (p.Ser4193Leu)
n.3821C>T
c.12680C>T (p.Ser4227Leu)
c.12677C>T (p.Ser4226Leu)
c.12656C>T (p.Ser4219Leu)
c.12650C>T (p.Ser4217Leu)
c.12644C>T (p.Ser4215Leu)
c.12620C>T (p.Ser4207Leu)
c.12443C>T (p.Ser4148Leu)
c.12587C>T (p.Ser4196Leu)
c.12659C>T (p.Ser4220Leu)
 ClinVar gnomAD v4
1g.237784339G>ACA085204RYR2c.*3719G>A (n.*3719G>A)
c.12615G>A (p.Ser4205=)
c.12648G>A (p.Ser4216=)
c.4804G>A
c.12627G>A (p.Ser4209=)
c.2680G>A
c.12579G>A (p.Ser4193=)
n.3822G>A
c.12681G>A (p.Ser4227=)
c.12678G>A (p.Ser4226=)
c.12657G>A (p.Ser4219=)
c.12651G>A (p.Ser4217=)
c.12645G>A (p.Ser4215=)
c.12621G>A (p.Ser4207=)
c.12444G>A (p.Ser4148=)
c.12588G>A (p.Ser4196=)
c.12660G>A (p.Ser4220=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237784339G>CCA085206RYR2c.*3719G>C (n.*3719G>C)
c.12615G>C (p.Ser4205=)
c.12648G>C (p.Ser4216=)
c.4804G>C
c.12627G>C (p.Ser4209=)
c.2680G>C
c.12579G>C (p.Ser4193=)
n.3822G>C
c.12681G>C (p.Ser4227=)
c.12678G>C (p.Ser4226=)
c.12657G>C (p.Ser4219=)
c.12651G>C (p.Ser4217=)
c.12645G>C (p.Ser4215=)
c.12621G>C (p.Ser4207=)
c.12444G>C (p.Ser4148=)
c.12588G>C (p.Ser4196=)
c.12660G>C (p.Ser4220=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.237784339G=CA1139992146RYR2c.*3719G= (n.*3719G=)
c.12615G= (p.Ser4205=)
c.12648G= (p.Ser4216=)
c.4804G=
c.12627G= (p.Ser4209=)
c.2680G=
c.12579G= (p.Ser4193=)
n.3822G=
c.12681G= (p.Ser4227=)
c.12678G= (p.Ser4226=)
c.12657G= (p.Ser4219=)
c.12651G= (p.Ser4217=)
c.12645G= (p.Ser4215=)
c.12621G= (p.Ser4207=)
c.12444G= (p.Ser4148=)
c.12588G= (p.Ser4196=)
c.12660G= (p.Ser4220=)
1g.237784339G>TCA424032089RYR2c.*3719G>T (n.*3719G>T)
c.12615G>T (p.Ser4205=)
c.12648G>T (p.Ser4216=)
c.4804G>T
c.12627G>T (p.Ser4209=)
c.2680G>T
c.12579G>T (p.Ser4193=)
n.3822G>T
c.12681G>T (p.Ser4227=)
c.12678G>T (p.Ser4226=)
c.12657G>T (p.Ser4219=)
c.12651G>T (p.Ser4217=)
c.12645G>T (p.Ser4215=)
c.12621G>T (p.Ser4207=)
c.12444G>T (p.Ser4148=)
c.12588G>T (p.Ser4196=)
c.12660G>T (p.Ser4220=)
1g.237784340G>ACA345413780RYR2c.*3720G>A (n.*3720G>A)
c.12616G>A (p.Asp4206Asn)
c.12649G>A (p.Asp4217Asn)
c.4805G>A
c.12628G>A (p.Asp4210Asn)
c.2681G>A
c.12580G>A (p.Asp4194Asn)
n.3823G>A
c.12682G>A (p.Asp4228Asn)
c.12679G>A (p.Asp4227Asn)
c.12658G>A (p.Asp4220Asn)
c.12652G>A (p.Asp4218Asn)
c.12646G>A (p.Asp4216Asn)
c.12622G>A (p.Asp4208Asn)
c.12445G>A (p.Asp4149Asn)
c.12589G>A (p.Asp4197Asn)
c.12661G>A (p.Asp4221Asn)
1g.237784340G>CCA345413781RYR2c.*3720G>C (n.*3720G>C)
c.12616G>C (p.Asp4206His)
c.12649G>C (p.Asp4217His)
c.4805G>C
c.12628G>C (p.Asp4210His)
c.2681G>C
c.12580G>C (p.Asp4194His)
n.3823G>C
c.12682G>C (p.Asp4228His)
c.12679G>C (p.Asp4227His)
c.12658G>C (p.Asp4220His)
c.12652G>C (p.Asp4218His)
c.12646G>C (p.Asp4216His)
c.12622G>C (p.Asp4208His)
c.12445G>C (p.Asp4149His)
c.12589G>C (p.Asp4197His)
c.12661G>C (p.Asp4221His)
1g.237784340G>TCA345413782RYR2c.*3720G>T (n.*3720G>T)
c.12616G>T (p.Asp4206Tyr)
c.12649G>T (p.Asp4217Tyr)
c.4805G>T
c.12628G>T (p.Asp4210Tyr)
c.2681G>T
c.12580G>T (p.Asp4194Tyr)
n.3823G>T
c.12682G>T (p.Asp4228Tyr)
c.12679G>T (p.Asp4227Tyr)
c.12658G>T (p.Asp4220Tyr)
c.12652G>T (p.Asp4218Tyr)
c.12646G>T (p.Asp4216Tyr)
c.12622G>T (p.Asp4208Tyr)
c.12445G>T (p.Asp4149Tyr)
c.12589G>T (p.Asp4197Tyr)
c.12661G>T (p.Asp4221Tyr)
1g.237784341A>CCA345413783RYR2c.*3721A>C (n.*3721A>C)
c.12617A>C (p.Asp4206Ala)
c.12650A>C (p.Asp4217Ala)
c.4806A>C
c.12629A>C (p.Asp4210Ala)
c.2682A>C
c.12581A>C (p.Asp4194Ala)
n.3824A>C
c.12683A>C (p.Asp4228Ala)
c.12680A>C (p.Asp4227Ala)
c.12659A>C (p.Asp4220Ala)
c.12653A>C (p.Asp4218Ala)
c.12647A>C (p.Asp4216Ala)
c.12623A>C (p.Asp4208Ala)
c.12446A>C (p.Asp4149Ala)
c.12590A>C (p.Asp4197Ala)
c.12662A>C (p.Asp4221Ala)
1g.237784341A>GCA345413784RYR2c.*3721A>G (n.*3721A>G)
c.12617A>G (p.Asp4206Gly)
c.12650A>G (p.Asp4217Gly)
c.4806A>G
c.12629A>G (p.Asp4210Gly)
c.2682A>G
c.12581A>G (p.Asp4194Gly)
n.3824A>G
c.12683A>G (p.Asp4228Gly)
c.12680A>G (p.Asp4227Gly)
c.12659A>G (p.Asp4220Gly)
c.12653A>G (p.Asp4218Gly)
c.12647A>G (p.Asp4216Gly)
c.12623A>G (p.Asp4208Gly)
c.12446A>G (p.Asp4149Gly)
c.12590A>G (p.Asp4197Gly)
c.12662A>G (p.Asp4221Gly)
1g.237784341A>TCA345413785RYR2c.*3721A>T (n.*3721A>T)
c.12617A>T (p.Asp4206Val)
c.12650A>T (p.Asp4217Val)
c.4806A>T
c.12629A>T (p.Asp4210Val)
c.2682A>T
c.12581A>T (p.Asp4194Val)
n.3824A>T
c.12683A>T (p.Asp4228Val)
c.12680A>T (p.Asp4227Val)
c.12659A>T (p.Asp4220Val)
c.12653A>T (p.Asp4218Val)
c.12647A>T (p.Asp4216Val)
c.12623A>T (p.Asp4208Val)
c.12446A>T (p.Asp4149Val)
c.12590A>T (p.Asp4197Val)
c.12662A>T (p.Asp4221Val)
1g.237784342C>ACA345413787RYR2c.*3722C>A (n.*3722C>A)
c.12618C>A (p.Asp4206Glu)
c.12651C>A (p.Asp4217Glu)
c.4807C>A
c.12630C>A (p.Asp4210Glu)
c.2683C>A
c.12582C>A (p.Asp4194Glu)
n.3825C>A
c.12684C>A (p.Asp4228Glu)
c.12681C>A (p.Asp4227Glu)
c.12660C>A (p.Asp4220Glu)
c.12654C>A (p.Asp4218Glu)
c.12648C>A (p.Asp4216Glu)
c.12624C>A (p.Asp4208Glu)
c.12447C>A (p.Asp4149Glu)
c.12591C>A (p.Asp4197Glu)
c.12663C>A (p.Asp4221Glu)
 COSMIC COSMIC
1g.237784342C>GCA345413786RYR2c.*3722C>G (n.*3722C>G)
c.12618C>G (p.Asp4206Glu)
c.12651C>G (p.Asp4217Glu)
c.4807C>G
c.12630C>G (p.Asp4210Glu)
c.2683C>G
c.12582C>G (p.Asp4194Glu)
n.3825C>G
c.12684C>G (p.Asp4228Glu)
c.12681C>G (p.Asp4227Glu)
c.12660C>G (p.Asp4220Glu)
c.12654C>G (p.Asp4218Glu)
c.12648C>G (p.Asp4216Glu)
c.12624C>G (p.Asp4208Glu)
c.12447C>G (p.Asp4149Glu)
c.12591C>G (p.Asp4197Glu)
c.12663C>G (p.Asp4221Glu)
1g.237784342C>TCA424032093RYR2c.*3722C>T (n.*3722C>T)
c.12618C>T (p.Asp4206=)
c.12651C>T (p.Asp4217=)
c.4807C>T
c.12630C>T (p.Asp4210=)
c.2683C>T
c.12582C>T (p.Asp4194=)
n.3825C>T
c.12684C>T (p.Asp4228=)
c.12681C>T (p.Asp4227=)
c.12660C>T (p.Asp4220=)
c.12654C>T (p.Asp4218=)
c.12648C>T (p.Asp4216=)
c.12624C>T (p.Asp4208=)
c.12447C>T (p.Asp4149=)
c.12591C>T (p.Asp4197=)
c.12663C>T (p.Asp4221=)
1g.237784343T>ACA345413788RYR2c.*3723T>A (n.*3723T>A)
c.12619T>A (p.Leu4207Met)
c.12652T>A (p.Leu4218Met)
c.4808T>A
c.12631T>A (p.Leu4211Met)
c.2684T>A
c.12583T>A (p.Leu4195Met)
n.3826T>A
c.12685T>A (p.Leu4229Met)
c.12682T>A (p.Leu4228Met)
c.12661T>A (p.Leu4221Met)
c.12655T>A (p.Leu4219Met)
c.12649T>A (p.Leu4217Met)
c.12625T>A (p.Leu4209Met)
c.12448T>A (p.Leu4150Met)
c.12592T>A (p.Leu4198Met)
c.12664T>A (p.Leu4222Met)
1g.237784343T>CCA424032096RYR2c.*3723T>C (n.*3723T>C)
c.12619T>C (p.Leu4207=)
c.12652T>C (p.Leu4218=)
c.4808T>C
c.12631T>C (p.Leu4211=)
c.2684T>C
c.12583T>C (p.Leu4195=)
n.3826T>C
c.12685T>C (p.Leu4229=)
c.12682T>C (p.Leu4228=)
c.12661T>C (p.Leu4221=)
c.12655T>C (p.Leu4219=)
c.12649T>C (p.Leu4217=)
c.12625T>C (p.Leu4209=)
c.12448T>C (p.Leu4150=)
c.12592T>C (p.Leu4198=)
c.12664T>C (p.Leu4222=)
1g.237784343T>GCA345413789RYR2c.*3723T>G (n.*3723T>G)
c.12619T>G (p.Leu4207Val)
c.12652T>G (p.Leu4218Val)
c.4808T>G
c.12631T>G (p.Leu4211Val)
c.2684T>G
c.12583T>G (p.Leu4195Val)
n.3826T>G
c.12685T>G (p.Leu4229Val)
c.12682T>G (p.Leu4228Val)
c.12661T>G (p.Leu4221Val)
c.12655T>G (p.Leu4219Val)
c.12649T>G (p.Leu4217Val)
c.12625T>G (p.Leu4209Val)
c.12448T>G (p.Leu4150Val)
c.12592T>G (p.Leu4198Val)
c.12664T>G (p.Leu4222Val)
1g.237784344T>ACA345413790RYR2c.*3724T>A (n.*3724T>A)
c.12620T>A (p.Leu4207Ter)
c.12653T>A (p.Leu4218Ter)
c.4809T>A
c.12632T>A (p.Leu4211Ter)
c.2685T>A
c.12584T>A (p.Leu4195Ter)
n.3827T>A
c.12686T>A (p.Leu4229Ter)
c.12683T>A (p.Leu4228Ter)
c.12662T>A (p.Leu4221Ter)
c.12656T>A (p.Leu4219Ter)
c.12650T>A (p.Leu4217Ter)
c.12626T>A (p.Leu4209Ter)
c.12449T>A (p.Leu4150Ter)
c.12593T>A (p.Leu4198Ter)
c.12665T>A (p.Leu4222Ter)
1g.237784344T>CCA345413791RYR2c.*3724T>C (n.*3724T>C)
c.12620T>C (p.Leu4207Ser)
c.12653T>C (p.Leu4218Ser)
c.4809T>C
c.12632T>C (p.Leu4211Ser)
c.2685T>C
c.12584T>C (p.Leu4195Ser)
n.3827T>C
c.12686T>C (p.Leu4229Ser)
c.12683T>C (p.Leu4228Ser)
c.12662T>C (p.Leu4221Ser)
c.12656T>C (p.Leu4219Ser)
c.12650T>C (p.Leu4217Ser)
c.12626T>C (p.Leu4209Ser)
c.12449T>C (p.Leu4150Ser)
c.12593T>C (p.Leu4198Ser)
c.12665T>C (p.Leu4222Ser)
1g.237784344T>GCA345413792RYR2c.*3724T>G (n.*3724T>G)
c.12620T>G (p.Leu4207Trp)
c.12653T>G (p.Leu4218Trp)
c.4809T>G
c.12632T>G (p.Leu4211Trp)
c.2685T>G
c.12584T>G (p.Leu4195Trp)
n.3827T>G
c.12686T>G (p.Leu4229Trp)
c.12683T>G (p.Leu4228Trp)
c.12662T>G (p.Leu4221Trp)
c.12656T>G (p.Leu4219Trp)
c.12650T>G (p.Leu4217Trp)
c.12626T>G (p.Leu4209Trp)
c.12449T>G (p.Leu4150Trp)
c.12593T>G (p.Leu4198Trp)
c.12665T>G (p.Leu4222Trp)
1g.237784345G>ACA424032097RYR2c.*3725G>A (n.*3725G>A)
c.12621G>A (p.Leu4207=)
c.12654G>A (p.Leu4218=)
c.4810G>A
c.12633G>A (p.Leu4211=)
c.2686G>A
c.12585G>A (p.Leu4195=)
n.3828G>A
c.12687G>A (p.Leu4229=)
c.12684G>A (p.Leu4228=)
c.12663G>A (p.Leu4221=)
c.12657G>A (p.Leu4219=)
c.12651G>A (p.Leu4217=)
c.12627G>A (p.Leu4209=)
c.12450G>A (p.Leu4150=)
c.12594G>A (p.Leu4198=)
c.12666G>A (p.Leu4222=)
 dbSNP
1g.237784345G>CCA345413793RYR2c.*3725G>C (n.*3725G>C)
c.12621G>C (p.Leu4207Phe)
c.12654G>C (p.Leu4218Phe)
c.4810G>C
c.12633G>C (p.Leu4211Phe)
c.2686G>C
c.12585G>C (p.Leu4195Phe)
n.3828G>C
c.12687G>C (p.Leu4229Phe)
c.12684G>C (p.Leu4228Phe)
c.12663G>C (p.Leu4221Phe)
c.12657G>C (p.Leu4219Phe)
c.12651G>C (p.Leu4217Phe)
c.12627G>C (p.Leu4209Phe)
c.12450G>C (p.Leu4150Phe)
c.12594G>C (p.Leu4198Phe)
c.12666G>C (p.Leu4222Phe)
 gnomAD v4
1g.237784345G=CA2487482479RYR2c.*3725G= (n.*3725G=)
c.12621G= (p.Leu4207=)
c.12654G= (p.Leu4218=)
c.4810G=
c.12633G= (p.Leu4211=)
c.2686G=
c.12585G= (p.Leu4195=)
n.3828G=
c.12687G= (p.Leu4229=)
c.12684G= (p.Leu4228=)
c.12663G= (p.Leu4221=)
c.12657G= (p.Leu4219=)
c.12651G= (p.Leu4217=)
c.12627G= (p.Leu4209=)
c.12450G= (p.Leu4150=)
c.12594G= (p.Leu4198=)
c.12666G= (p.Leu4222=)
1g.237784345G>TCA345413794RYR2c.*3725G>T (n.*3725G>T)
c.12621G>T (p.Leu4207Phe)
c.12654G>T (p.Leu4218Phe)
c.4810G>T
c.12633G>T (p.Leu4211Phe)
c.2686G>T
c.12585G>T (p.Leu4195Phe)
n.3828G>T
c.12687G>T (p.Leu4229Phe)
c.12684G>T (p.Leu4228Phe)
c.12663G>T (p.Leu4221Phe)
c.12657G>T (p.Leu4219Phe)
c.12651G>T (p.Leu4217Phe)
c.12627G>T (p.Leu4209Phe)
c.12450G>T (p.Leu4150Phe)
c.12594G>T (p.Leu4198Phe)
c.12666G>T (p.Leu4222Phe)
1g.237784346A>CCA345413795RYR2c.*3726A>C (n.*3726A>C)
c.12622A>C (p.Asn4208His)
c.12655A>C (p.Asn4219His)
c.4811A>C
c.12634A>C (p.Asn4212His)
c.2687A>C
c.12586A>C (p.Asn4196His)
n.3829A>C
c.12688A>C (p.Asn4230His)
c.12685A>C (p.Asn4229His)
c.12664A>C (p.Asn4222His)
c.12658A>C (p.Asn4220His)
c.12652A>C (p.Asn4218His)
c.12628A>C (p.Asn4210His)
c.12451A>C (p.Asn4151His)
c.12595A>C (p.Asn4199His)
c.12667A>C (p.Asn4223His)
1g.237784346A>GCA345413796RYR2c.*3726A>G (n.*3726A>G)
c.12622A>G (p.Asn4208Asp)
c.12655A>G (p.Asn4219Asp)
c.4811A>G
c.12634A>G (p.Asn4212Asp)
c.2687A>G
c.12586A>G (p.Asn4196Asp)
n.3829A>G
c.12688A>G (p.Asn4230Asp)
c.12685A>G (p.Asn4229Asp)
c.12664A>G (p.Asn4222Asp)
c.12658A>G (p.Asn4220Asp)
c.12652A>G (p.Asn4218Asp)
c.12628A>G (p.Asn4210Asp)
c.12451A>G (p.Asn4151Asp)
c.12595A>G (p.Asn4199Asp)
c.12667A>G (p.Asn4223Asp)
1g.237784346A>TCA345413797RYR2c.*3726A>T (n.*3726A>T)
c.12622A>T (p.Asn4208Tyr)
c.12655A>T (p.Asn4219Tyr)
c.4811A>T
c.12634A>T (p.Asn4212Tyr)
c.2687A>T
c.12586A>T (p.Asn4196Tyr)
n.3829A>T
c.12688A>T (p.Asn4230Tyr)
c.12685A>T (p.Asn4229Tyr)
c.12664A>T (p.Asn4222Tyr)
c.12658A>T (p.Asn4220Tyr)
c.12652A>T (p.Asn4218Tyr)
c.12628A>T (p.Asn4210Tyr)
c.12451A>T (p.Asn4151Tyr)
c.12595A>T (p.Asn4199Tyr)
c.12667A>T (p.Asn4223Tyr)
1g.237784347A>CCA345413798RYR2c.*3727A>C (n.*3727A>C)
c.12623A>C (p.Asn4208Thr)
c.12656A>C (p.Asn4219Thr)
c.4812A>C
c.12635A>C (p.Asn4212Thr)
c.2688A>C
c.12587A>C (p.Asn4196Thr)
n.3830A>C
c.12689A>C (p.Asn4230Thr)
c.12686A>C (p.Asn4229Thr)
c.12665A>C (p.Asn4222Thr)
c.12659A>C (p.Asn4220Thr)
c.12653A>C (p.Asn4218Thr)
c.12629A>C (p.Asn4210Thr)
c.12452A>C (p.Asn4151Thr)
c.12596A>C (p.Asn4199Thr)
c.12668A>C (p.Asn4223Thr)
1g.237784347A>GCA345413799RYR2c.*3727A>G (n.*3727A>G)
c.12623A>G (p.Asn4208Ser)
c.12656A>G (p.Asn4219Ser)
c.4812A>G
c.12635A>G (p.Asn4212Ser)
c.2688A>G
c.12587A>G (p.Asn4196Ser)
n.3830A>G
c.12689A>G (p.Asn4230Ser)
c.12686A>G (p.Asn4229Ser)
c.12665A>G (p.Asn4222Ser)
c.12659A>G (p.Asn4220Ser)
c.12653A>G (p.Asn4218Ser)
c.12629A>G (p.Asn4210Ser)
c.12452A>G (p.Asn4151Ser)
c.12596A>G (p.Asn4199Ser)
c.12668A>G (p.Asn4223Ser)
1g.237784347A>TCA345413800RYR2c.*3727A>T (n.*3727A>T)
c.12623A>T (p.Asn4208Ile)
c.12656A>T (p.Asn4219Ile)
c.4812A>T
c.12635A>T (p.Asn4212Ile)
c.2688A>T
c.12587A>T (p.Asn4196Ile)
n.3830A>T
c.12689A>T (p.Asn4230Ile)
c.12686A>T (p.Asn4229Ile)
c.12665A>T (p.Asn4222Ile)
c.12659A>T (p.Asn4220Ile)
c.12653A>T (p.Asn4218Ile)
c.12629A>T (p.Asn4210Ile)
c.12452A>T (p.Asn4151Ile)
c.12596A>T (p.Asn4199Ile)
c.12668A>T (p.Asn4223Ile)
1g.237784348C>ACA345413801RYR2c.*3728C>A (n.*3728C>A)
c.12624C>A (p.Asn4208Lys)
c.12657C>A (p.Asn4219Lys)
c.4813C>A
c.12636C>A (p.Asn4212Lys)
c.2689C>A
c.12588C>A (p.Asn4196Lys)
n.3831C>A
c.12690C>A (p.Asn4230Lys)
c.12687C>A (p.Asn4229Lys)
c.12666C>A (p.Asn4222Lys)
c.12660C>A (p.Asn4220Lys)
c.12654C>A (p.Asn4218Lys)
c.12630C>A (p.Asn4210Lys)
c.12453C>A (p.Asn4151Lys)
c.12597C>A (p.Asn4199Lys)
c.12669C>A (p.Asn4223Lys)
 ClinVar dbSNP
1g.237784348C=CA2487482480RYR2c.*3728C= (n.*3728C=)
c.12624C= (p.Asn4208=)
c.12657C= (p.Asn4219=)
c.4813C=
c.12636C= (p.Asn4212=)
c.2689C=
c.12588C= (p.Asn4196=)
n.3831C=
c.12690C= (p.Asn4230=)
c.12687C= (p.Asn4229=)
c.12666C= (p.Asn4222=)
c.12660C= (p.Asn4220=)
c.12654C= (p.Asn4218=)
c.12630C= (p.Asn4210=)
c.12453C= (p.Asn4151=)
c.12597C= (p.Asn4199=)
c.12669C= (p.Asn4223=)
1g.237784348C>GCA39827800RYR2c.*3728C>G (n.*3728C>G)
c.12624C>G (p.Asn4208Lys)
c.12657C>G (p.Asn4219Lys)
c.4813C>G
c.12636C>G (p.Asn4212Lys)
c.2689C>G
c.12588C>G (p.Asn4196Lys)
n.3831C>G
c.12690C>G (p.Asn4230Lys)
c.12687C>G (p.Asn4229Lys)
c.12666C>G (p.Asn4222Lys)
c.12660C>G (p.Asn4220Lys)
c.12654C>G (p.Asn4218Lys)
c.12630C>G (p.Asn4210Lys)
c.12453C>G (p.Asn4151Lys)
c.12597C>G (p.Asn4199Lys)
c.12669C>G (p.Asn4223Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.237784348C>TCA424032101RYR2c.*3728C>T (n.*3728C>T)
c.12624C>T (p.Asn4208=)
c.12657C>T (p.Asn4219=)
c.4813C>T
c.12636C>T (p.Asn4212=)
c.2689C>T
c.12588C>T (p.Asn4196=)
n.3831C>T
c.12690C>T (p.Asn4230=)
c.12687C>T (p.Asn4229=)
c.12666C>T (p.Asn4222=)
c.12660C>T (p.Asn4220=)
c.12654C>T (p.Asn4218=)
c.12630C>T (p.Asn4210=)
c.12453C>T (p.Asn4151=)
c.12597C>T (p.Asn4199=)
c.12669C>T (p.Asn4223=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.237784349G>ACA345413802RYR2c.*3729G>A (n.*3729G>A)
c.12625G>A (p.Glu4209Lys)
c.12658G>A (p.Glu4220Lys)
c.4814G>A
c.12637G>A (p.Glu4213Lys)
c.2690G>A
c.12589G>A (p.Glu4197Lys)
n.3832G>A
c.12691G>A (p.Glu4231Lys)
c.12688G>A (p.Glu4230Lys)
c.12667G>A (p.Glu4223Lys)
c.12661G>A (p.Glu4221Lys)
c.12655G>A (p.Glu4219Lys)
c.12631G>A (p.Glu4211Lys)
c.12454G>A (p.Glu4152Lys)
c.12598G>A (p.Glu4200Lys)
c.12670G>A (p.Glu4224Lys)
 ClinVar dbSNP gnomAD v4
1g.237784349G>CCA345413803RYR2c.*3729G>C (n.*3729G>C)
c.12625G>C (p.Glu4209Gln)
c.12658G>C (p.Glu4220Gln)
c.4814G>C
c.12637G>C (p.Glu4213Gln)
c.2690G>C
c.12589G>C (p.Glu4197Gln)
n.3832G>C
c.12691G>C (p.Glu4231Gln)
c.12688G>C (p.Glu4230Gln)
c.12667G>C (p.Glu4223Gln)
c.12661G>C (p.Glu4221Gln)
c.12655G>C (p.Glu4219Gln)
c.12631G>C (p.Glu4211Gln)
c.12454G>C (p.Glu4152Gln)
c.12598G>C (p.Glu4200Gln)
c.12670G>C (p.Glu4224Gln)
1g.237784349G=CA2487482481RYR2c.*3729G= (n.*3729G=)
c.12625G= (p.Glu4209=)
c.12658G= (p.Glu4220=)
c.4814G=
c.12637G= (p.Glu4213=)
c.2690G=
c.12589G= (p.Glu4197=)
n.3832G=
c.12691G= (p.Glu4231=)
c.12688G= (p.Glu4230=)
c.12667G= (p.Glu4223=)
c.12661G= (p.Glu4221=)
c.12655G= (p.Glu4219=)
c.12631G= (p.Glu4211=)
c.12454G= (p.Glu4152=)
c.12598G= (p.Glu4200=)
c.12670G= (p.Glu4224=)
1g.237784349G>TCA345413804RYR2c.*3729G>T (n.*3729G>T)
c.12625G>T (p.Glu4209Ter)
c.12658G>T (p.Glu4220Ter)
c.4814G>T
c.12637G>T (p.Glu4213Ter)
c.2690G>T
c.12589G>T (p.Glu4197Ter)
n.3832G>T
c.12691G>T (p.Glu4231Ter)
c.12688G>T (p.Glu4230Ter)
c.12667G>T (p.Glu4223Ter)
c.12661G>T (p.Glu4221Ter)
c.12655G>T (p.Glu4219Ter)
c.12631G>T (p.Glu4211Ter)
c.12454G>T (p.Glu4152Ter)
c.12598G>T (p.Glu4200Ter)
c.12670G>T (p.Glu4224Ter)
 gnomAD v4 COSMIC
1g.237784350A=CA2487482482RYR2c.*3730A= (n.*3730A=)
c.12626A= (p.Glu4209=)
c.12659A= (p.Glu4220=)
c.4815A=
c.12638A= (p.Glu4213=)
c.2691A=
c.12590A= (p.Glu4197=)
n.3833A=
c.12692A= (p.Glu4231=)
c.12689A= (p.Glu4230=)
c.12668A= (p.Glu4223=)
c.12662A= (p.Glu4221=)
c.12656A= (p.Glu4219=)
c.12632A= (p.Glu4211=)
c.12455A= (p.Glu4152=)
c.12599A= (p.Glu4200=)
c.12671A= (p.Glu4224=)
1g.237784350A>CCA345413805RYR2c.*3730A>C (n.*3730A>C)
c.12626A>C (p.Glu4209Ala)
c.12659A>C (p.Glu4220Ala)
c.4815A>C
c.12638A>C (p.Glu4213Ala)
c.2691A>C
c.12590A>C (p.Glu4197Ala)
n.3833A>C
c.12692A>C (p.Glu4231Ala)
c.12689A>C (p.Glu4230Ala)
c.12668A>C (p.Glu4223Ala)
c.12662A>C (p.Glu4221Ala)
c.12656A>C (p.Glu4219Ala)
c.12632A>C (p.Glu4211Ala)
c.12455A>C (p.Glu4152Ala)
c.12599A>C (p.Glu4200Ala)
c.12671A>C (p.Glu4224Ala)
1g.237784350A>GCA345413806RYR2c.*3730A>G (n.*3730A>G)
c.12626A>G (p.Glu4209Gly)
c.12659A>G (p.Glu4220Gly)
c.4815A>G
c.12638A>G (p.Glu4213Gly)
c.2691A>G
c.12590A>G (p.Glu4197Gly)
n.3833A>G
c.12692A>G (p.Glu4231Gly)
c.12689A>G (p.Glu4230Gly)
c.12668A>G (p.Glu4223Gly)
c.12662A>G (p.Glu4221Gly)
c.12656A>G (p.Glu4219Gly)
c.12632A>G (p.Glu4211Gly)
c.12455A>G (p.Glu4152Gly)
c.12599A>G (p.Glu4200Gly)
c.12671A>G (p.Glu4224Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.237784350A>TCA345413807RYR2c.*3730A>T (n.*3730A>T)
c.12626A>T (p.Glu4209Val)
c.12659A>T (p.Glu4220Val)
c.4815A>T
c.12638A>T (p.Glu4213Val)
c.2691A>T
c.12590A>T (p.Glu4197Val)
n.3833A>T
c.12692A>T (p.Glu4231Val)
c.12689A>T (p.Glu4230Val)
c.12668A>T (p.Glu4223Val)
c.12662A>T (p.Glu4221Val)
c.12656A>T (p.Glu4219Val)
c.12632A>T (p.Glu4211Val)
c.12455A>T (p.Glu4152Val)
c.12599A>T (p.Glu4200Val)
c.12671A>T (p.Glu4224Val)
1g.237784351G>ACA424032105RYR2c.*3731G>A (n.*3731G>A)
c.12627G>A (p.Glu4209=)
c.12660G>A (p.Glu4220=)
c.4816G>A
c.12639G>A (p.Glu4213=)
c.2692G>A
c.12591G>A (p.Glu4197=)
n.3834G>A
c.12693G>A (p.Glu4231=)
c.12690G>A (p.Glu4230=)
c.12669G>A (p.Glu4223=)
c.12663G>A (p.Glu4221=)
c.12657G>A (p.Glu4219=)
c.12633G>A (p.Glu4211=)
c.12456G>A (p.Glu4152=)
c.12600G>A (p.Glu4200=)
c.12672G>A (p.Glu4224=)
1g.237784351G>CCA345413808RYR2c.*3731G>C (n.*3731G>C)
c.12627G>C (p.Glu4209Asp)
c.12660G>C (p.Glu4220Asp)
c.4816G>C
c.12639G>C (p.Glu4213Asp)
c.2692G>C
c.12591G>C (p.Glu4197Asp)
n.3834G>C
c.12693G>C (p.Glu4231Asp)
c.12690G>C (p.Glu4230Asp)
c.12669G>C (p.Glu4223Asp)
c.12663G>C (p.Glu4221Asp)
c.12657G>C (p.Glu4219Asp)
c.12633G>C (p.Glu4211Asp)
c.12456G>C (p.Glu4152Asp)
c.12600G>C (p.Glu4200Asp)
c.12672G>C (p.Glu4224Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.237784351G=CA2487482483RYR2c.*3731G= (n.*3731G=)
c.12627G= (p.Glu4209=)
c.12660G= (p.Glu4220=)
c.4816G=
c.12639G= (p.Glu4213=)
c.2692G=
c.12591G= (p.Glu4197=)
n.3834G=
c.12693G= (p.Glu4231=)
c.12690G= (p.Glu4230=)
c.12669G= (p.Glu4223=)
c.12663G= (p.Glu4221=)
c.12657G= (p.Glu4219=)
c.12633G= (p.Glu4211=)
c.12456G= (p.Glu4152=)
c.12600G= (p.Glu4200=)
c.12672G= (p.Glu4224=)
1g.237784351G>TCA345413809RYR2c.*3731G>T (n.*3731G>T)
c.12627G>T (p.Glu4209Asp)
c.12660G>T (p.Glu4220Asp)
c.4816G>T
c.12639G>T (p.Glu4213Asp)
c.2692G>T
c.12591G>T (p.Glu4197Asp)
n.3834G>T
c.12693G>T (p.Glu4231Asp)
c.12690G>T (p.Glu4230Asp)
c.12669G>T (p.Glu4223Asp)
c.12663G>T (p.Glu4221Asp)
c.12657G>T (p.Glu4219Asp)
c.12633G>T (p.Glu4211Asp)
c.12456G>T (p.Glu4152Asp)
c.12600G>T (p.Glu4200Asp)
c.12672G>T (p.Glu4224Asp)
1g.237784352A>CCA424032106RYR2c.*3732A>C (n.*3732A>C)
c.12628A>C (p.Arg4210=)
c.12661A>C (p.Arg4221=)
c.4817A>C
c.12640A>C (p.Arg4214=)
c.2693A>C
c.12592A>C (p.Arg4198=)
n.3835A>C
c.12694A>C (p.Arg4232=)
c.12691A>C (p.Arg4231=)
c.12670A>C (p.Arg4224=)
c.12664A>C (p.Arg4222=)
c.12658A>C (p.Arg4220=)
c.12634A>C (p.Arg4212=)
c.12457A>C (p.Arg4153=)
c.12601A>C (p.Arg4201=)
c.12673A>C (p.Arg4225=)
1g.237784352A>GCA345413810RYR2c.*3732A>G (n.*3732A>G)
c.12628A>G (p.Arg4210Gly)
c.12661A>G (p.Arg4221Gly)
c.4817A>G
c.12640A>G (p.Arg4214Gly)
c.2693A>G
c.12592A>G (p.Arg4198Gly)
n.3835A>G
c.12694A>G (p.Arg4232Gly)
c.12691A>G (p.Arg4231Gly)
c.12670A>G (p.Arg4224Gly)
c.12664A>G (p.Arg4222Gly)
c.12658A>G (p.Arg4220Gly)
c.12634A>G (p.Arg4212Gly)
c.12457A>G (p.Arg4153Gly)
c.12601A>G (p.Arg4201Gly)
c.12673A>G (p.Arg4225Gly)
1g.237784352A>TCA345413811RYR2c.*3732A>T (n.*3732A>T)
c.12628A>T (p.Arg4210Trp)
c.12661A>T (p.Arg4221Trp)
c.4817A>T
c.12640A>T (p.Arg4214Trp)
c.2693A>T
c.12592A>T (p.Arg4198Trp)
n.3835A>T
c.12694A>T (p.Arg4232Trp)
c.12691A>T (p.Arg4231Trp)
c.12670A>T (p.Arg4224Trp)
c.12664A>T (p.Arg4222Trp)
c.12658A>T (p.Arg4220Trp)
c.12634A>T (p.Arg4212Trp)
c.12457A>T (p.Arg4153Trp)
c.12601A>T (p.Arg4201Trp)
c.12673A>T (p.Arg4225Trp)
1g.237784353G>ACA345413812RYR2c.*3733G>A (n.*3733G>A)
c.12629G>A (p.Arg4210Lys)
c.12662G>A (p.Arg4221Lys)
c.4818G>A
c.12641G>A (p.Arg4214Lys)
c.2694G>A
c.12593G>A (p.Arg4198Lys)
n.3836G>A
c.12695G>A (p.Arg4232Lys)
c.12692G>A (p.Arg4231Lys)
c.12671G>A (p.Arg4224Lys)
c.12665G>A (p.Arg4222Lys)
c.12659G>A (p.Arg4220Lys)
c.12635G>A (p.Arg4212Lys)
c.12458G>A (p.Arg4153Lys)
c.12602G>A (p.Arg4201Lys)
c.12674G>A (p.Arg4225Lys)
1g.237784353G>CCA345413813RYR2c.*3733G>C (n.*3733G>C)
c.12629G>C (p.Arg4210Thr)
c.12662G>C (p.Arg4221Thr)
c.4818G>C
c.12641G>C (p.Arg4214Thr)
c.2694G>C
c.12593G>C (p.Arg4198Thr)
n.3836G>C
c.12695G>C (p.Arg4232Thr)
c.12692G>C (p.Arg4231Thr)
c.12671G>C (p.Arg4224Thr)
c.12665G>C (p.Arg4222Thr)
c.12659G>C (p.Arg4220Thr)
c.12635G>C (p.Arg4212Thr)
c.12458G>C (p.Arg4153Thr)
c.12602G>C (p.Arg4201Thr)
c.12674G>C (p.Arg4225Thr)
1g.237784353G>TCA345413814RYR2c.*3733G>T (n.*3733G>T)
c.12629G>T (p.Arg4210Met)
c.12662G>T (p.Arg4221Met)
c.4818G>T
c.12641G>T (p.Arg4214Met)
c.2694G>T
c.12593G>T (p.Arg4198Met)
n.3836G>T
c.12695G>T (p.Arg4232Met)
c.12692G>T (p.Arg4231Met)
c.12671G>T (p.Arg4224Met)
c.12665G>T (p.Arg4222Met)
c.12659G>T (p.Arg4220Met)
c.12635G>T (p.Arg4212Met)
c.12458G>T (p.Arg4153Met)
c.12602G>T (p.Arg4201Met)
c.12674G>T (p.Arg4225Met)
1g.237784354G>ACA424032108RYR2c.*3734G>A (n.*3734G>A)
c.12630G>A (p.Arg4210=)
c.12663G>A (p.Arg4221=)
c.4819G>A
c.12642G>A (p.Arg4214=)
c.2695G>A
c.12594G>A (p.Arg4198=)
n.3837G>A
c.12696G>A (p.Arg4232=)
c.12693G>A (p.Arg4231=)
c.12672G>A (p.Arg4224=)
c.12666G>A (p.Arg4222=)
c.12660G>A (p.Arg4220=)
c.12636G>A (p.Arg4212=)
c.12459G>A (p.Arg4153=)
c.12603G>A (p.Arg4201=)
c.12675G>A (p.Arg4225=)
1g.237784354G>CCA345413816RYR2c.*3734G>C (n.*3734G>C)
c.12630G>C (p.Arg4210Ser)
c.12663G>C (p.Arg4221Ser)
c.4819G>C
c.12642G>C (p.Arg4214Ser)
c.2695G>C
c.12594G>C (p.Arg4198Ser)
n.3837G>C
c.12696G>C (p.Arg4232Ser)
c.12693G>C (p.Arg4231Ser)
c.12672G>C (p.Arg4224Ser)
c.12666G>C (p.Arg4222Ser)
c.12660G>C (p.Arg4220Ser)
c.12636G>C (p.Arg4212Ser)
c.12459G>C (p.Arg4153Ser)
c.12603G>C (p.Arg4201Ser)
c.12675G>C (p.Arg4225Ser)
1g.237784354G>TCA345413815RYR2c.*3734G>T (n.*3734G>T)
c.12630G>T (p.Arg4210Ser)
c.12663G>T (p.Arg4221Ser)
c.4819G>T
c.12642G>T (p.Arg4214Ser)
c.2695G>T
c.12594G>T (p.Arg4198Ser)
n.3837G>T
c.12696G>T (p.Arg4232Ser)
c.12693G>T (p.Arg4231Ser)
c.12672G>T (p.Arg4224Ser)
c.12666G>T (p.Arg4222Ser)
c.12660G>T (p.Arg4220Ser)
c.12636G>T (p.Arg4212Ser)
c.12459G>T (p.Arg4153Ser)
c.12603G>T (p.Arg4201Ser)
c.12675G>T (p.Arg4225Ser)
1g.237784355T>ACA345413817RYR2c.*3735T>A (n.*3735T>A)
c.12631T>A (p.Ser4211Thr)
c.12664T>A (p.Ser4222Thr)
c.4820T>A
c.12643T>A (p.Ser4215Thr)
c.2696T>A
c.12595T>A (p.Ser4199Thr)
n.3838T>A
c.12697T>A (p.Ser4233Thr)
c.12694T>A (p.Ser4232Thr)
c.12673T>A (p.Ser4225Thr)
c.12667T>A (p.Ser4223Thr)
c.12661T>A (p.Ser4221Thr)
c.12637T>A (p.Ser4213Thr)
c.12460T>A (p.Ser4154Thr)
c.12604T>A (p.Ser4202Thr)
c.12676T>A (p.Ser4226Thr)
1g.237784355T>CCA345413818RYR2c.*3735T>C (n.*3735T>C)
c.12631T>C (p.Ser4211Pro)
c.12664T>C (p.Ser4222Pro)
c.4820T>C
c.12643T>C (p.Ser4215Pro)
c.2696T>C
c.12595T>C (p.Ser4199Pro)
n.3838T>C
c.12697T>C (p.Ser4233Pro)
c.12694T>C (p.Ser4232Pro)
c.12673T>C (p.Ser4225Pro)
c.12667T>C (p.Ser4223Pro)
c.12661T>C (p.Ser4221Pro)
c.12637T>C (p.Ser4213Pro)
c.12460T>C (p.Ser4154Pro)
c.12604T>C (p.Ser4202Pro)
c.12676T>C (p.Ser4226Pro)
1g.237784355T>GCA345413819RYR2c.*3735T>G (n.*3735T>G)
c.12631T>G (p.Ser4211Ala)
c.12664T>G (p.Ser4222Ala)
c.4820T>G
c.12643T>G (p.Ser4215Ala)
c.2696T>G
c.12595T>G (p.Ser4199Ala)
n.3838T>G
c.12697T>G (p.Ser4233Ala)
c.12694T>G (p.Ser4232Ala)
c.12673T>G (p.Ser4225Ala)
c.12667T>G (p.Ser4223Ala)
c.12661T>G (p.Ser4221Ala)
c.12637T>G (p.Ser4213Ala)
c.12460T>G (p.Ser4154Ala)
c.12604T>G (p.Ser4202Ala)
c.12676T>G (p.Ser4226Ala)
1g.237784356C>ACA345413820RYR2c.*3736C>A (n.*3736C>A)
c.12632C>A (p.Ser4211Ter)
c.12665C>A (p.Ser4222Ter)
c.4821C>A
c.12644C>A (p.Ser4215Ter)
c.2697C>A
c.12596C>A (p.Ser4199Ter)
n.3839C>A
c.12698C>A (p.Ser4233Ter)
c.12695C>A (p.Ser4232Ter)
c.12674C>A (p.Ser4225Ter)
c.12668C>A (p.Ser4223Ter)
c.12662C>A (p.Ser4221Ter)
c.12638C>A (p.Ser4213Ter)
c.12461C>A (p.Ser4154Ter)
c.12605C>A (p.Ser4202Ter)
c.12677C>A (p.Ser4226Ter)
1g.237784356C>GCA345413821RYR2c.*3736C>G (n.*3736C>G)
c.12632C>G (p.Ser4211Ter)
c.12665C>G (p.Ser4222Ter)
c.4821C>G
c.12644C>G (p.Ser4215Ter)
c.2697C>G
c.12596C>G (p.Ser4199Ter)
n.3839C>G
c.12698C>G (p.Ser4233Ter)
c.12695C>G (p.Ser4232Ter)
c.12674C>G (p.Ser4225Ter)
c.12668C>G (p.Ser4223Ter)
c.12662C>G (p.Ser4221Ter)
c.12638C>G (p.Ser4213Ter)
c.12461C>G (p.Ser4154Ter)
c.12605C>G (p.Ser4202Ter)
c.12677C>G (p.Ser4226Ter)
1g.237784356C>TCA345413822RYR2c.*3736C>T (n.*3736C>T)
c.12632C>T (p.Ser4211Leu)
c.12665C>T (p.Ser4222Leu)
c.4821C>T
c.12644C>T (p.Ser4215Leu)
c.2697C>T
c.12596C>T (p.Ser4199Leu)
n.3839C>T
c.12698C>T (p.Ser4233Leu)
c.12695C>T (p.Ser4232Leu)
c.12674C>T (p.Ser4225Leu)
c.12668C>T (p.Ser4223Leu)
c.12662C>T (p.Ser4221Leu)
c.12638C>T (p.Ser4213Leu)
c.12461C>T (p.Ser4154Leu)
c.12605C>T (p.Ser4202Leu)
c.12677C>T (p.Ser4226Leu)
1g.237784357A>CCA424032110RYR2c.*3737A>C (n.*3737A>C)
c.12633A>C (p.Ser4211=)
c.12666A>C (p.Ser4222=)
c.4822A>C
c.12645A>C (p.Ser4215=)
c.2698A>C
c.12597A>C (p.Ser4199=)
n.3840A>C
c.12699A>C (p.Ser4233=)
c.12696A>C (p.Ser4232=)
c.12675A>C (p.Ser4225=)
c.12669A>C (p.Ser4223=)
c.12663A>C (p.Ser4221=)
c.12639A>C (p.Ser4213=)
c.12462A>C (p.Ser4154=)
c.12606A>C (p.Ser4202=)
c.12678A>C (p.Ser4226=)
1g.237784357A>GCA424032112RYR2c.*3737A>G (n.*3737A>G)
c.12633A>G (p.Ser4211=)
c.12666A>G (p.Ser4222=)
c.4822A>G
c.12645A>G (p.Ser4215=)
c.2698A>G
c.12597A>G (p.Ser4199=)
n.3840A>G
c.12699A>G (p.Ser4233=)
c.12696A>G (p.Ser4232=)
c.12675A>G (p.Ser4225=)
c.12669A>G (p.Ser4223=)
c.12663A>G (p.Ser4221=)
c.12639A>G (p.Ser4213=)
c.12462A>G (p.Ser4154=)
c.12606A>G (p.Ser4202=)
c.12678A>G (p.Ser4226=)
 gnomAD v4
1g.237784357A>TCA424032111RYR2c.*3737A>T (n.*3737A>T)
c.12633A>T (p.Ser4211=)
c.12666A>T (p.Ser4222=)
c.4822A>T
c.12645A>T (p.Ser4215=)
c.2698A>T
c.12597A>T (p.Ser4199=)
n.3840A>T
c.12699A>T (p.Ser4233=)
c.12696A>T (p.Ser4232=)
c.12675A>T (p.Ser4225=)
c.12669A>T (p.Ser4223=)
c.12663A>T (p.Ser4221=)
c.12639A>T (p.Ser4213=)
c.12462A>T (p.Ser4154=)
c.12606A>T (p.Ser4202=)
c.12678A>T (p.Ser4226=)
1g.237784358G>ACA066535RYR2c.*3738G>A (n.*3738G>A)
c.12634G>A (p.Ala4212Thr)
c.12667G>A (p.Ala4223Thr)
c.4823G>A
c.12646G>A (p.Ala4216Thr)
c.2699G>A
c.12598G>A (p.Ala4200Thr)
n.3841G>A
c.12700G>A (p.Ala4234Thr)
c.12697G>A (p.Ala4233Thr)
c.12676G>A (p.Ala4226Thr)
c.12670G>A (p.Ala4224Thr)
c.12664G>A (p.Ala4222Thr)
c.12640G>A (p.Ala4214Thr)
c.12463G>A (p.Ala4155Thr)
c.12607G>A (p.Ala4203Thr)
c.12679G>A (p.Ala4227Thr)
 dbSNP
1g.237784358G>CCA345413823RYR2c.*3738G>C (n.*3738G>C)
c.12634G>C (p.Ala4212Pro)
c.12667G>C (p.Ala4223Pro)
c.4823G>C
c.12646G>C (p.Ala4216Pro)
c.2699G>C
c.12598G>C (p.Ala4200Pro)
n.3841G>C
c.12700G>C (p.Ala4234Pro)
c.12697G>C (p.Ala4233Pro)
c.12676G>C (p.Ala4226Pro)
c.12670G>C (p.Ala4224Pro)
c.12664G>C (p.Ala4222Pro)
c.12640G>C (p.Ala4214Pro)
c.12463G>C (p.Ala4155Pro)
c.12607G>C (p.Ala4203Pro)
c.12679G>C (p.Ala4227Pro)
1g.237784358G=CA2487482484RYR2c.*3738G= (n.*3738G=)
c.12634G= (p.Ala4212=)
c.12667G= (p.Ala4223=)
c.4823G=
c.12646G= (p.Ala4216=)
c.2699G=
c.12598G= (p.Ala4200=)
n.3841G=
c.12700G= (p.Ala4234=)
c.12697G= (p.Ala4233=)
c.12676G= (p.Ala4226=)
c.12670G= (p.Ala4224=)
c.12664G= (p.Ala4222=)
c.12640G= (p.Ala4214=)
c.12463G= (p.Ala4155=)
c.12607G= (p.Ala4203=)
c.12679G= (p.Ala4227=)
1g.237784358G>TCA345413824RYR2c.*3738G>T (n.*3738G>T)
c.12634G>T (p.Ala4212Ser)
c.12667G>T (p.Ala4223Ser)
c.4823G>T
c.12646G>T (p.Ala4216Ser)
c.2699G>T
c.12598G>T (p.Ala4200Ser)
n.3841G>T
c.12700G>T (p.Ala4234Ser)
c.12697G>T (p.Ala4233Ser)
c.12676G>T (p.Ala4226Ser)
c.12670G>T (p.Ala4224Ser)
c.12664G>T (p.Ala4222Ser)
c.12640G>T (p.Ala4214Ser)
c.12463G>T (p.Ala4155Ser)
c.12607G>T (p.Ala4203Ser)
c.12679G>T (p.Ala4227Ser)
1g.237784359C>ACA345413825RYR2c.*3739C>A (n.*3739C>A)
c.12635C>A (p.Ala4212Glu)
c.12668C>A (p.Ala4223Glu)
c.4824C>A
c.12647C>A (p.Ala4216Glu)
c.2700C>A
c.12599C>A (p.Ala4200Glu)
n.3842C>A
c.12701C>A (p.Ala4234Glu)
c.12698C>A (p.Ala4233Glu)
c.12677C>A (p.Ala4226Glu)
c.12671C>A (p.Ala4224Glu)
c.12665C>A (p.Ala4222Glu)
c.12641C>A (p.Ala4214Glu)
c.12464C>A (p.Ala4155Glu)
c.12608C>A (p.Ala4203Glu)
c.12680C>A (p.Ala4227Glu)
 ClinVar dbSNP gnomAD v4
1g.237784359C=CA1144094922RYR2c.*3739C= (n.*3739C=)
c.12635C= (p.Ala4212=)
c.12668C= (p.Ala4223=)
c.4824C=
c.12647C= (p.Ala4216=)
c.2700C=
c.12599C= (p.Ala4200=)
n.3842C=
c.12701C= (p.Ala4234=)
c.12698C= (p.Ala4233=)
c.12677C= (p.Ala4226=)
c.12671C= (p.Ala4224=)
c.12665C= (p.Ala4222=)
c.12641C= (p.Ala4214=)
c.12464C= (p.Ala4155=)
c.12608C= (p.Ala4203=)
c.12680C= (p.Ala4227=)
1g.237784359C>GCA345413826RYR2c.*3739C>G (n.*3739C>G)
c.12635C>G (p.Ala4212Gly)
c.12668C>G (p.Ala4223Gly)
c.4824C>G
c.12647C>G (p.Ala4216Gly)
c.2700C>G
c.12599C>G (p.Ala4200Gly)
n.3842C>G
c.12701C>G (p.Ala4234Gly)
c.12698C>G (p.Ala4233Gly)
c.12677C>G (p.Ala4226Gly)
c.12671C>G (p.Ala4224Gly)
c.12665C>G (p.Ala4222Gly)
c.12641C>G (p.Ala4214Gly)
c.12464C>G (p.Ala4155Gly)
c.12608C>G (p.Ala4203Gly)
c.12680C>G (p.Ala4227Gly)
1g.237784359C>TCA085207RYR2c.*3739C>T (n.*3739C>T)
c.12635C>T (p.Ala4212Val)
c.12668C>T (p.Ala4223Val)
c.4824C>T
c.12647C>T (p.Ala4216Val)
c.2700C>T
c.12599C>T (p.Ala4200Val)
n.3842C>T
c.12701C>T (p.Ala4234Val)
c.12698C>T (p.Ala4233Val)
c.12677C>T (p.Ala4226Val)
c.12671C>T (p.Ala4224Val)
c.12665C>T (p.Ala4222Val)
c.12641C>T (p.Ala4214Val)
c.12464C>T (p.Ala4155Val)
c.12608C>T (p.Ala4203Val)
c.12680C>T (p.Ala4227Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.237784360G>ACA085208RYR2c.*3740G>A (n.*3740G>A)
c.12636G>A (p.Ala4212=)
c.12669G>A (p.Ala4223=)
c.4825G>A
c.12648G>A (p.Ala4216=)
c.2701G>A
c.12600G>A (p.Ala4200=)
n.3843G>A
c.12702G>A (p.Ala4234=)
c.12699G>A (p.Ala4233=)
c.12678G>A (p.Ala4226=)
c.12672G>A (p.Ala4224=)
c.12666G>A (p.Ala4222=)
c.12642G>A (p.Ala4214=)
c.12465G>A (p.Ala4155=)
c.12609G>A (p.Ala4203=)
c.12681G>A (p.Ala4227=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.237784360G>CCA424032119RYR2c.*3740G>C (n.*3740G>C)
c.12636G>C (p.Ala4212=)
c.12669G>C (p.Ala4223=)
c.4825G>C
c.12648G>C (p.Ala4216=)
c.2701G>C
c.12600G>C (p.Ala4200=)
n.3843G>C
c.12702G>C (p.Ala4234=)
c.12699G>C (p.Ala4233=)
c.12678G>C (p.Ala4226=)
c.12672G>C (p.Ala4224=)
c.12666G>C (p.Ala4222=)
c.12642G>C (p.Ala4214=)
c.12465G>C (p.Ala4155=)
c.12609G>C (p.Ala4203=)
c.12681G>C (p.Ala4227=)
1g.237784360G=CA2487482485RYR2c.*3740G= (n.*3740G=)
c.12636G= (p.Ala4212=)
c.12669G= (p.Ala4223=)
c.4825G=
c.12648G= (p.Ala4216=)
c.2701G=
c.12600G= (p.Ala4200=)
n.3843G=
c.12702G= (p.Ala4234=)
c.12699G= (p.Ala4233=)
c.12678G= (p.Ala4226=)
c.12672G= (p.Ala4224=)
c.12666G= (p.Ala4222=)
c.12642G= (p.Ala4214=)
c.12465G= (p.Ala4155=)
c.12609G= (p.Ala4203=)
c.12681G= (p.Ala4227=)
1g.237784360G>TCA424032120RYR2c.*3740G>T (n.*3740G>T)
c.12636G>T (p.Ala4212=)
c.12669G>T (p.Ala4223=)
c.4825G>T
c.12648G>T (p.Ala4216=)
c.2701G>T
c.12600G>T (p.Ala4200=)
n.3843G>T
c.12702G>T (p.Ala4234=)
c.12699G>T (p.Ala4233=)
c.12678G>T (p.Ala4226=)
c.12672G>T (p.Ala4224=)
c.12666G>T (p.Ala4222=)
c.12642G>T (p.Ala4214=)
c.12465G>T (p.Ala4155=)
c.12609G>T (p.Ala4203=)
c.12681G>T (p.Ala4227=)
1g.237784361A>CCA345413829RYR2c.*3741A>C (n.*3741A>C)
c.12637A>C (p.Asn4213His)
c.12670A>C (p.Asn4224His)
c.4826A>C
c.12649A>C (p.Asn4217His)
c.2702A>C
c.12601A>C (p.Asn4201His)
n.3844A>C
c.12703A>C (p.Asn4235His)
c.12700A>C (p.Asn4234His)
c.12679A>C (p.Asn4227His)
c.12673A>C (p.Asn4225His)
c.12667A>C (p.Asn4223His)
c.12643A>C (p.Asn4215His)
c.12466A>C (p.Asn4156His)
c.12610A>C (p.Asn4204His)
c.12682A>C (p.Asn4228His)
1g.237784361A>GCA345413828RYR2c.*3741A>G (n.*3741A>G)
c.12637A>G (p.Asn4213Asp)
c.12670A>G (p.Asn4224Asp)
c.4826A>G
c.12649A>G (p.Asn4217Asp)
c.2702A>G
c.12601A>G (p.Asn4201Asp)
n.3844A>G
c.12703A>G (p.Asn4235Asp)
c.12700A>G (p.Asn4234Asp)
c.12679A>G (p.Asn4227Asp)
c.12673A>G (p.Asn4225Asp)
c.12667A>G (p.Asn4223Asp)
c.12643A>G (p.Asn4215Asp)
c.12466A>G (p.Asn4156Asp)
c.12610A>G (p.Asn4204Asp)
c.12682A>G (p.Asn4228Asp)
1g.237784361A>TCA345413827RYR2c.*3741A>T (n.*3741A>T)
c.12637A>T (p.Asn4213Tyr)
c.12670A>T (p.Asn4224Tyr)
c.4826A>T
c.12649A>T (p.Asn4217Tyr)
c.2702A>T
c.12601A>T (p.Asn4201Tyr)
n.3844A>T
c.12703A>T (p.Asn4235Tyr)
c.12700A>T (p.Asn4234Tyr)
c.12679A>T (p.Asn4227Tyr)
c.12673A>T (p.Asn4225Tyr)
c.12667A>T (p.Asn4223Tyr)
c.12643A>T (p.Asn4215Tyr)
c.12466A>T (p.Asn4156Tyr)
c.12610A>T (p.Asn4204Tyr)
c.12682A>T (p.Asn4228Tyr)
1g.237784362A>CCA345413830RYR2c.*3742A>C (n.*3742A>C)
c.12638A>C (p.Asn4213Thr)
c.12671A>C (p.Asn4224Thr)
c.4827A>C
c.12650A>C (p.Asn4217Thr)
c.2703A>C
c.12602A>C (p.Asn4201Thr)
n.3845A>C
c.12704A>C (p.Asn4235Thr)
c.12701A>C (p.Asn4234Thr)
c.12680A>C (p.Asn4227Thr)
c.12674A>C (p.Asn4225Thr)
c.12668A>C (p.Asn4223Thr)
c.12644A>C (p.Asn4215Thr)
c.12467A>C (p.Asn4156Thr)
c.12611A>C (p.Asn4204Thr)
c.12683A>C (p.Asn4228Thr)
1g.237784362A>GCA345413832RYR2c.*3742A>G (n.*3742A>G)
c.12638A>G (p.Asn4213Ser)
c.12671A>G (p.Asn4224Ser)
c.4827A>G
c.12650A>G (p.Asn4217Ser)
c.2703A>G
c.12602A>G (p.Asn4201Ser)
n.3845A>G
c.12704A>G (p.Asn4235Ser)
c.12701A>G (p.Asn4234Ser)
c.12680A>G (p.Asn4227Ser)
c.12674A>G (p.Asn4225Ser)
c.12668A>G (p.Asn4223Ser)
c.12644A>G (p.Asn4215Ser)
c.12467A>G (p.Asn4156Ser)
c.12611A>G (p.Asn4204Ser)
c.12683A>G (p.Asn4228Ser)
1g.237784362A>TCA345413831RYR2c.*3742A>T (n.*3742A>T)
c.12638A>T (p.Asn4213Ile)
c.12671A>T (p.Asn4224Ile)
c.4827A>T
c.12650A>T (p.Asn4217Ile)
c.2703A>T
c.12602A>T (p.Asn4201Ile)
n.3845A>T
c.12704A>T (p.Asn4235Ile)
c.12701A>T (p.Asn4234Ile)
c.12680A>T (p.Asn4227Ile)
c.12674A>T (p.Asn4225Ile)
c.12668A>T (p.Asn4223Ile)
c.12644A>T (p.Asn4215Ile)
c.12467A>T (p.Asn4156Ile)
c.12611A>T (p.Asn4204Ile)
c.12683A>T (p.Asn4228Ile)
1g.237784363T>ACA345413833RYR2c.*3743T>A (n.*3743T>A)
c.12639T>A (p.Asn4213Lys)
c.12672T>A (p.Asn4224Lys)
c.4828T>A
c.12651T>A (p.Asn4217Lys)
c.2704T>A
c.12603T>A (p.Asn4201Lys)
n.3846T>A
c.12705T>A (p.Asn4235Lys)
c.12702T>A (p.Asn4234Lys)
c.12681T>A (p.Asn4227Lys)
c.12675T>A (p.Asn4225Lys)
c.12669T>A (p.Asn4223Lys)
c.12645T>A (p.Asn4215Lys)
c.12468T>A (p.Asn4156Lys)
c.12612T>A (p.Asn4204Lys)
c.12684T>A (p.Asn4228Lys)
1g.237784363T>CCA424032124RYR2c.*3743T>C (n.*3743T>C)
c.12639T>C (p.Asn4213=)
c.12672T>C (p.Asn4224=)
c.4828T>C
c.12651T>C (p.Asn4217=)
c.2704T>C
c.12603T>C (p.Asn4201=)
n.3846T>C
c.12705T>C (p.Asn4235=)
c.12702T>C (p.Asn4234=)
c.12681T>C (p.Asn4227=)
c.12675T>C (p.Asn4225=)
c.12669T>C (p.Asn4223=)
c.12645T>C (p.Asn4215=)
c.12468T>C (p.Asn4156=)
c.12612T>C (p.Asn4204=)
c.12684T>C (p.Asn4228=)
 dbSNP
1g.237784363T>GCA345413834RYR2c.*3743T>G (n.*3743T>G)
c.12639T>G (p.Asn4213Lys)
c.12672T>G (p.Asn4224Lys)
c.4828T>G
c.12651T>G (p.Asn4217Lys)
c.2704T>G
c.12603T>G (p.Asn4201Lys)
n.3846T>G
c.12705T>G (p.Asn4235Lys)
c.12702T>G (p.Asn4234Lys)
c.12681T>G (p.Asn4227Lys)
c.12675T>G (p.Asn4225Lys)
c.12669T>G (p.Asn4223Lys)
c.12645T>G (p.Asn4215Lys)
c.12468T>G (p.Asn4156Lys)
c.12612T>G (p.Asn4204Lys)
c.12684T>G (p.Asn4228Lys)
1g.237784364A>CCA345413835RYR2c.*3744A>C (n.*3744A>C)
c.12640A>C (p.Lys4214Gln)
c.12673A>C (p.Lys4225Gln)
c.4829A>C
c.12652A>C (p.Lys4218Gln)
c.2705A>C
c.12604A>C (p.Lys4202Gln)
n.3847A>C
c.12706A>C (p.Lys4236Gln)
c.12703A>C (p.Lys4235Gln)
c.12682A>C (p.Lys4228Gln)
c.12676A>C (p.Lys4226Gln)
c.12670A>C (p.Lys4224Gln)
c.12646A>C (p.Lys4216Gln)
c.12469A>C (p.Lys4157Gln)
c.12613A>C (p.Lys4205Gln)
c.12685A>C (p.Lys4229Gln)
1g.237784364A>GCA345413836RYR2c.*3744A>G (n.*3744A>G)
c.12640A>G (p.Lys4214Glu)
c.12673A>G (p.Lys4225Glu)
c.4829A>G
c.12652A>G (p.Lys4218Glu)
c.2705A>G
c.12604A>G (p.Lys4202Glu)
n.3847A>G
c.12706A>G (p.Lys4236Glu)
c.12703A>G (p.Lys4235Glu)
c.12682A>G (p.Lys4228Glu)
c.12676A>G (p.Lys4226Glu)
c.12670A>G (p.Lys4224Glu)
c.12646A>G (p.Lys4216Glu)
c.12469A>G (p.Lys4157Glu)
c.12613A>G (p.Lys4205Glu)
c.12685A>G (p.Lys4229Glu)
1g.237784364A>TCA345413837RYR2c.*3744A>T (n.*3744A>T)
c.12640A>T (p.Lys4214Ter)
c.12673A>T (p.Lys4225Ter)
c.4829A>T
c.12652A>T (p.Lys4218Ter)
c.2705A>T
c.12604A>T (p.Lys4202Ter)
n.3847A>T
c.12706A>T (p.Lys4236Ter)
c.12703A>T (p.Lys4235Ter)
c.12682A>T (p.Lys4228Ter)
c.12676A>T (p.Lys4226Ter)
c.12670A>T (p.Lys4224Ter)
c.12646A>T (p.Lys4216Ter)
c.12469A>T (p.Lys4157Ter)
c.12613A>T (p.Lys4205Ter)
c.12685A>T (p.Lys4229Ter)
1g.237784365A=CA2487482486RYR2c.*3745A= (n.*3745A=)
c.12641A= (p.Lys4214=)
c.12674A= (p.Lys4225=)
c.4830A=
c.12653A= (p.Lys4218=)
c.2706A=
c.12605A= (p.Lys4202=)
n.3848A=
c.12707A= (p.Lys4236=)
c.12704A= (p.Lys4235=)
c.12683A= (p.Lys4228=)
c.12677A= (p.Lys4226=)
c.12671A= (p.Lys4224=)
c.12647A= (p.Lys4216=)
c.12470A= (p.Lys4157=)
c.12614A= (p.Lys4205=)
c.12686A= (p.Lys4229=)
1g.237784365A>CCA345413838RYR2c.*3745A>C (n.*3745A>C)
c.12641A>C (p.Lys4214Thr)
c.12674A>C (p.Lys4225Thr)
c.4830A>C
c.12653A>C (p.Lys4218Thr)
c.2706A>C
c.12605A>C (p.Lys4202Thr)
n.3848A>C
c.12707A>C (p.Lys4236Thr)
c.12704A>C (p.Lys4235Thr)
c.12683A>C (p.Lys4228Thr)
c.12677A>C (p.Lys4226Thr)
c.12671A>C (p.Lys4224Thr)
c.12647A>C (p.Lys4216Thr)
c.12470A>C (p.Lys4157Thr)
c.12614A>C (p.Lys4205Thr)
c.12686A>C (p.Lys4229Thr)
 dbSNP
1g.237784365A>GCA345413839RYR2c.*3745A>G (n.*3745A>G)
c.12641A>G (p.Lys4214Arg)
c.12674A>G (p.Lys4225Arg)
c.4830A>G
c.12653A>G (p.Lys4218Arg)
c.2706A>G
c.12605A>G (p.Lys4202Arg)
n.3848A>G
c.12707A>G (p.Lys4236Arg)
c.12704A>G (p.Lys4235Arg)
c.12683A>G (p.Lys4228Arg)
c.12677A>G (p.Lys4226Arg)
c.12671A>G (p.Lys4224Arg)
c.12647A>G (p.Lys4216Arg)
c.12470A>G (p.Lys4157Arg)
c.12614A>G (p.Lys4205Arg)
c.12686A>G (p.Lys4229Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.237784365A>TCA345413840RYR2c.*3745A>T (n.*3745A>T)
c.12641A>T (p.Lys4214Met)
c.12674A>T (p.Lys4225Met)
c.4830A>T
c.12653A>T (p.Lys4218Met)
c.2706A>T
c.12605A>T (p.Lys4202Met)
n.3848A>T
c.12707A>T (p.Lys4236Met)
c.12704A>T (p.Lys4235Met)
c.12683A>T (p.Lys4228Met)
c.12677A>T (p.Lys4226Met)
c.12671A>T (p.Lys4224Met)
c.12647A>T (p.Lys4216Met)
c.12470A>T (p.Lys4157Met)
c.12614A>T (p.Lys4205Met)
c.12686A>T (p.Lys4229Met)
1g.237784366G>ACA424032133RYR2c.*3746G>A (n.*3746G>A)
c.12642G>A (p.Lys4214=)
c.12675G>A (p.Lys4225=)
c.4831G>A
c.12654G>A (p.Lys4218=)
c.2707G>A
c.12606G>A (p.Lys4202=)
n.3849G>A
c.12708G>A (p.Lys4236=)
c.12705G>A (p.Lys4235=)
c.12684G>A (p.Lys4228=)
c.12678G>A (p.Lys4226=)
c.12672G>A (p.Lys4224=)
c.12648G>A (p.Lys4216=)
c.12471G>A (p.Lys4157=)
c.12615G>A (p.Lys4205=)
c.12687G>A (p.Lys4229=)
1g.237784366G>CCA345413841RYR2c.*3746G>C (n.*3746G>C)
c.12642G>C (p.Lys4214Asn)
c.12675G>C (p.Lys4225Asn)
c.4831G>C
c.12654G>C (p.Lys4218Asn)
c.2707G>C
c.12606G>C (p.Lys4202Asn)
n.3849G>C
c.12708G>C (p.Lys4236Asn)
c.12705G>C (p.Lys4235Asn)
c.12684G>C (p.Lys4228Asn)
c.12678G>C (p.Lys4226Asn)
c.12672G>C (p.Lys4224Asn)
c.12648G>C (p.Lys4216Asn)
c.12471G>C (p.Lys4157Asn)
c.12615G>C (p.Lys4205Asn)
c.12687G>C (p.Lys4229Asn)
1g.237784366G>TCA345413842RYR2c.*3746G>T (n.*3746G>T)
c.12642G>T (p.Lys4214Asn)
c.12675G>T (p.Lys4225Asn)
c.4831G>T
c.12654G>T (p.Lys4218Asn)
c.2707G>T
c.12606G>T (p.Lys4202Asn)
n.3849G>T
c.12708G>T (p.Lys4236Asn)
c.12705G>T (p.Lys4235Asn)
c.12684G>T (p.Lys4228Asn)
c.12678G>T (p.Lys4226Asn)
c.12672G>T (p.Lys4224Asn)
c.12648G>T (p.Lys4216Asn)
c.12471G>T (p.Lys4157Asn)
c.12615G>T (p.Lys4205Asn)
c.12687G>T (p.Lys4229Asn)
1g.237784367G>ACA345413843RYR2c.*3747G>A (n.*3747G>A)
c.12643G>A (p.Glu4215Lys)
c.12676G>A (p.Glu4226Lys)
c.4832G>A
c.12655G>A (p.Glu4219Lys)
c.2708G>A
c.12607G>A (p.Glu4203Lys)
n.3850G>A
c.12709G>A (p.Glu4237Lys)
c.12706G>A (p.Glu4236Lys)
c.12685G>A (p.Glu4229Lys)
c.12679G>A (p.Glu4227Lys)
c.12673G>A (p.Glu4225Lys)
c.12649G>A (p.Glu4217Lys)
c.12472G>A (p.Glu4158Lys)
c.12616G>A (p.Glu4206Lys)
c.12688G>A (p.Glu4230Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.237784367G>CCA345413844RYR2c.*3747G>C (n.*3747G>C)
c.12643G>C (p.Glu4215Gln)
c.12676G>C (p.Glu4226Gln)
c.4832G>C
c.12655G>C (p.Glu4219Gln)
c.2708G>C
c.12607G>C (p.Glu4203Gln)
n.3850G>C
c.12709G>C (p.Glu4237Gln)
c.12706G>C (p.Glu4236Gln)
c.12685G>C (p.Glu4229Gln)
c.12679G>C (p.Glu4227Gln)
c.12673G>C (p.Glu4225Gln)
c.12649G>C (p.Glu4217Gln)
c.12472G>C (p.Glu4158Gln)
c.12616G>C (p.Glu4206Gln)
c.12688G>C (p.Glu4230Gln)
1g.237784367G=CA2487482487RYR2c.*3747G= (n.*3747G=)
c.12643G= (p.Glu4215=)
c.12676G= (p.Glu4226=)
c.4832G=
c.12655G= (p.Glu4219=)
c.2708G=
c.12607G= (p.Glu4203=)
n.3850G=
c.12709G= (p.Glu4237=)
c.12706G= (p.Glu4236=)
c.12685G= (p.Glu4229=)
c.12679G= (p.Glu4227=)
c.12673G= (p.Glu4225=)
c.12649G= (p.Glu4217=)
c.12472G= (p.Glu4158=)
c.12616G= (p.Glu4206=)
c.12688G= (p.Glu4230=)
1g.237784367G>TCA345413845RYR2c.*3747G>T (n.*3747G>T)
c.12643G>T (p.Glu4215Ter)
c.12676G>T (p.Glu4226Ter)
c.4832G>T
c.12655G>T (p.Glu4219Ter)
c.2708G>T
c.12607G>T (p.Glu4203Ter)
n.3850G>T
c.12709G>T (p.Glu4237Ter)
c.12706G>T (p.Glu4236Ter)
c.12685G>T (p.Glu4229Ter)
c.12679G>T (p.Glu4227Ter)
c.12673G>T (p.Glu4225Ter)
c.12649G>T (p.Glu4217Ter)
c.12472G>T (p.Glu4158Ter)
c.12616G>T (p.Glu4206Ter)
c.12688G>T (p.Glu4230Ter)
1g.237784368A>CCA345413846RYR2c.*3748A>C (n.*3748A>C)
c.12644A>C (p.Glu4215Ala)
c.12677A>C (p.Glu4226Ala)
c.4833A>C
c.12656A>C (p.Glu4219Ala)
c.2709A>C
c.12608A>C (p.Glu4203Ala)
n.3851A>C
c.12710A>C (p.Glu4237Ala)
c.12707A>C (p.Glu4236Ala)
c.12686A>C (p.Glu4229Ala)
c.12680A>C (p.Glu4227Ala)
c.12674A>C (p.Glu4225Ala)
c.12650A>C (p.Glu4217Ala)
c.12473A>C (p.Glu4158Ala)
c.12617A>C (p.Glu4206Ala)
c.12689A>C (p.Glu4230Ala)
1g.237784368A>GCA345413848RYR2c.*3748A>G (n.*3748A>G)
c.12644A>G (p.Glu4215Gly)
c.12677A>G (p.Glu4226Gly)
c.4833A>G
c.12656A>G (p.Glu4219Gly)
c.2709A>G
c.12608A>G (p.Glu4203Gly)
n.3851A>G
c.12710A>G (p.Glu4237Gly)
c.12707A>G (p.Glu4236Gly)
c.12686A>G (p.Glu4229Gly)
c.12680A>G (p.Glu4227Gly)
c.12674A>G (p.Glu4225Gly)
c.12650A>G (p.Glu4217Gly)
c.12473A>G (p.Glu4158Gly)
c.12617A>G (p.Glu4206Gly)
c.12689A>G (p.Glu4230Gly)
1g.237784368A>TCA345413847RYR2c.*3748A>T (n.*3748A>T)
c.12644A>T (p.Glu4215Val)
c.12677A>T (p.Glu4226Val)
c.4833A>T
c.12656A>T (p.Glu4219Val)
c.2709A>T
c.12608A>T (p.Glu4203Val)
n.3851A>T
c.12710A>T (p.Glu4237Val)
c.12707A>T (p.Glu4236Val)
c.12686A>T (p.Glu4229Val)
c.12680A>T (p.Glu4227Val)
c.12674A>T (p.Glu4225Val)
c.12650A>T (p.Glu4217Val)
c.12473A>T (p.Glu4158Val)
c.12617A>T (p.Glu4206Val)
c.12689A>T (p.Glu4230Val)
1g.237784369A>CCA345413849RYR2c.*3749A>C (n.*3749A>C)
c.12645A>C (p.Glu4215Asp)
c.12678A>C (p.Glu4226Asp)
c.4834A>C
c.12657A>C (p.Glu4219Asp)
c.2710A>C
c.12609A>C (p.Glu4203Asp)
n.3852A>C
c.12711A>C (p.Glu4237Asp)
c.12708A>C (p.Glu4236Asp)
c.12687A>C (p.Glu4229Asp)
c.12681A>C (p.Glu4227Asp)
c.12675A>C (p.Glu4225Asp)
c.12651A>C (p.Glu4217Asp)
c.12474A>C (p.Glu4158Asp)
c.12618A>C (p.Glu4206Asp)
c.12690A>C (p.Glu4230Asp)
1g.237784369A>GCA424032141RYR2c.*3749A>G (n.*3749A>G)
c.12645A>G (p.Glu4215=)
c.12678A>G (p.Glu4226=)
c.4834A>G
c.12657A>G (p.Glu4219=)
c.2710A>G
c.12609A>G (p.Glu4203=)
n.3852A>G
c.12711A>G (p.Glu4237=)
c.12708A>G (p.Glu4236=)
c.12687A>G (p.Glu4229=)
c.12681A>G (p.Glu4227=)
c.12675A>G (p.Glu4225=)
c.12651A>G (p.Glu4217=)
c.12474A>G (p.Glu4158=)
c.12618A>G (p.Glu4206=)
c.12690A>G (p.Glu4230=)
1g.237784369A>TCA345413850RYR2c.*3749A>T (n.*3749A>T)
c.12645A>T (p.Glu4215Asp)
c.12678A>T (p.Glu4226Asp)
c.4834A>T
c.12657A>T (p.Glu4219Asp)
c.2710A>T
c.12609A>T (p.Glu4203Asp)
n.3852A>T
c.12711A>T (p.Glu4237Asp)
c.12708A>T (p.Glu4236Asp)
c.12687A>T (p.Glu4229Asp)
c.12681A>T (p.Glu4227Asp)
c.12675A>T (p.Glu4225Asp)
c.12651A>T (p.Glu4217Asp)
c.12474A>T (p.Glu4158Asp)
c.12618A>T (p.Glu4206Asp)
c.12690A>T (p.Glu4230Asp)
1g.237784370G>ACA085209RYR2c.*3750G>A (n.*3750G>A)
c.12646G>A (p.Glu4216Lys)
c.12679G>A (p.Glu4227Lys)
c.4835G>A
c.12658G>A (p.Glu4220Lys)
c.2711G>A
c.12610G>A (p.Glu4204Lys)
n.3853G>A
c.12712G>A (p.Glu4238Lys)
c.12709G>A (p.Glu4237Lys)
c.12688G>A (p.Glu4230Lys)
c.12682G>A (p.Glu4228Lys)
c.12676G>A (p.Glu4226Lys)
c.12652G>A (p.Glu4218Lys)
c.12475G>A (p.Glu4159Lys)
c.12619G>A (p.Glu4207Lys)
c.12691G>A (p.Glu4231Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237784370G>CCA345413851RYR2c.*3750G>C (n.*3750G>C)
c.12646G>C (p.Glu4216Gln)
c.12679G>C (p.Glu4227Gln)
c.4835G>C
c.12658G>C (p.Glu4220Gln)
c.2711G>C
c.12610G>C (p.Glu4204Gln)
n.3853G>C
c.12712G>C (p.Glu4238Gln)
c.12709G>C (p.Glu4237Gln)
c.12688G>C (p.Glu4230Gln)
c.12682G>C (p.Glu4228Gln)
c.12676G>C (p.Glu4226Gln)
c.12652G>C (p.Glu4218Gln)
c.12475G>C (p.Glu4159Gln)
c.12619G>C (p.Glu4207Gln)
c.12691G>C (p.Glu4231Gln)
 gnomAD v4
1g.237784370G=CA2487482488RYR2c.*3750G= (n.*3750G=)
c.12646G= (p.Glu4216=)
c.12679G= (p.Glu4227=)
c.4835G=
c.12658G= (p.Glu4220=)
c.2711G=
c.12610G= (p.Glu4204=)
n.3853G=
c.12712G= (p.Glu4238=)
c.12709G= (p.Glu4237=)
c.12688G= (p.Glu4230=)
c.12682G= (p.Glu4228=)
c.12676G= (p.Glu4226=)
c.12652G= (p.Glu4218=)
c.12475G= (p.Glu4159=)
c.12619G= (p.Glu4207=)
c.12691G= (p.Glu4231=)
1g.237784370G>TCA345413852RYR2c.*3750G>T (n.*3750G>T)
c.12646G>T (p.Glu4216Ter)
c.12679G>T (p.Glu4227Ter)
c.4835G>T
c.12658G>T (p.Glu4220Ter)
c.2711G>T
c.12610G>T (p.Glu4204Ter)
n.3853G>T
c.12712G>T (p.Glu4238Ter)
c.12709G>T (p.Glu4237Ter)
c.12688G>T (p.Glu4230Ter)
c.12682G>T (p.Glu4228Ter)
c.12676G>T (p.Glu4226Ter)
c.12652G>T (p.Glu4218Ter)
c.12475G>T (p.Glu4159Ter)
c.12619G>T (p.Glu4207Ter)
c.12691G>T (p.Glu4231Ter)
1g.237784371A>CCA345413853RYR2c.*3751A>C (n.*3751A>C)
c.12647A>C (p.Glu4216Ala)
c.12680A>C (p.Glu4227Ala)
c.4836A>C
c.12659A>C (p.Glu4220Ala)
c.2712A>C
c.12611A>C (p.Glu4204Ala)
n.3854A>C
c.12713A>C (p.Glu4238Ala)
c.12710A>C (p.Glu4237Ala)
c.12689A>C (p.Glu4230Ala)
c.12683A>C (p.Glu4228Ala)
c.12677A>C (p.Glu4226Ala)
c.12653A>C (p.Glu4218Ala)
c.12476A>C (p.Glu4159Ala)
c.12620A>C (p.Glu4207Ala)
c.12692A>C (p.Glu4231Ala)
1g.237784371A>GCA345413854RYR2c.*3751A>G (n.*3751A>G)
c.12647A>G (p.Glu4216Gly)
c.12680A>G (p.Glu4227Gly)
c.4836A>G
c.12659A>G (p.Glu4220Gly)
c.2712A>G
c.12611A>G (p.Glu4204Gly)
n.3854A>G
c.12713A>G (p.Glu4238Gly)
c.12710A>G (p.Glu4237Gly)
c.12689A>G (p.Glu4230Gly)
c.12683A>G (p.Glu4228Gly)
c.12677A>G (p.Glu4226Gly)
c.12653A>G (p.Glu4218Gly)
c.12476A>G (p.Glu4159Gly)
c.12620A>G (p.Glu4207Gly)
c.12692A>G (p.Glu4231Gly)
1g.237784371A>TCA345413855RYR2c.*3751A>T (n.*3751A>T)
c.12647A>T (p.Glu4216Val)
c.12680A>T (p.Glu4227Val)
c.4836A>T
c.12659A>T (p.Glu4220Val)
c.2712A>T
c.12611A>T (p.Glu4204Val)
n.3854A>T
c.12713A>T (p.Glu4238Val)
c.12710A>T (p.Glu4237Val)
c.12689A>T (p.Glu4230Val)
c.12683A>T (p.Glu4228Val)
c.12677A>T (p.Glu4226Val)
c.12653A>T (p.Glu4218Val)
c.12476A>T (p.Glu4159Val)
c.12620A>T (p.Glu4207Val)
c.12692A>T (p.Glu4231Val)
1g.237784372A=CA2487482489RYR2c.*3752A= (n.*3752A=)
c.12648A= (p.Glu4216=)
c.12681A= (p.Glu4227=)
c.4837A=
c.12660A= (p.Glu4220=)
c.2713A=
c.12612A= (p.Glu4204=)
n.3855A=
c.12714A= (p.Glu4238=)
c.12711A= (p.Glu4237=)
c.12690A= (p.Glu4230=)
c.12684A= (p.Glu4228=)
c.12678A= (p.Glu4226=)
c.12654A= (p.Glu4218=)
c.12477A= (p.Glu4159=)
c.12621A= (p.Glu4207=)
c.12693A= (p.Glu4231=)
1g.237784372A>CCA345413856RYR2c.*3752A>C (n.*3752A>C)
c.12648A>C (p.Glu4216Asp)
c.12681A>C (p.Glu4227Asp)
c.4837A>C
c.12660A>C (p.Glu4220Asp)
c.2713A>C
c.12612A>C (p.Glu4204Asp)
n.3855A>C
c.12714A>C (p.Glu4238Asp)
c.12711A>C (p.Glu4237Asp)
c.12690A>C (p.Glu4230Asp)
c.12684A>C (p.Glu4228Asp)
c.12678A>C (p.Glu4226Asp)
c.12654A>C (p.Glu4218Asp)
c.12477A>C (p.Glu4159Asp)
c.12621A>C (p.Glu4207Asp)
c.12693A>C (p.Glu4231Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.237784372A>GCA424032146RYR2c.*3752A>G (n.*3752A>G)
c.12648A>G (p.Glu4216=)
c.12681A>G (p.Glu4227=)
c.4837A>G
c.12660A>G (p.Glu4220=)
c.2713A>G
c.12612A>G (p.Glu4204=)
n.3855A>G
c.12714A>G (p.Glu4238=)
c.12711A>G (p.Glu4237=)
c.12690A>G (p.Glu4230=)
c.12684A>G (p.Glu4228=)
c.12678A>G (p.Glu4226=)
c.12654A>G (p.Glu4218=)
c.12477A>G (p.Glu4159=)
c.12621A>G (p.Glu4207=)
c.12693A>G (p.Glu4231=)
 ClinVar dbSNP gnomAD v4
1g.237784372A>TCA345413857RYR2c.*3752A>T (n.*3752A>T)
c.12648A>T (p.Glu4216Asp)
c.12681A>T (p.Glu4227Asp)
c.4837A>T
c.12660A>T (p.Glu4220Asp)
c.2713A>T
c.12612A>T (p.Glu4204Asp)
n.3855A>T
c.12714A>T (p.Glu4238Asp)
c.12711A>T (p.Glu4237Asp)
c.12690A>T (p.Glu4230Asp)
c.12684A>T (p.Glu4228Asp)
c.12678A>T (p.Glu4226Asp)
c.12654A>T (p.Glu4218Asp)
c.12477A>T (p.Glu4159Asp)
c.12621A>T (p.Glu4207Asp)
c.12693A>T (p.Glu4231Asp)
1g.237784373A=CA2487482490RYR2c.*3753A= (n.*3753A=)
c.12649A= (p.Ser4217=)
c.12682A= (p.Ser4228=)
c.4838A=
c.12661A= (p.Ser4221=)
c.2714A=
c.12613A= (p.Ser4205=)
n.3856A=
c.12715A= (p.Ser4239=)
c.12712A= (p.Ser4238=)
c.12691A= (p.Ser4231=)
c.12685A= (p.Ser4229=)
c.12679A= (p.Ser4227=)
c.12655A= (p.Ser4219=)
c.12478A= (p.Ser4160=)
c.12622A= (p.Ser4208=)
c.12694A= (p.Ser4232=)
1g.237784373A>CCA345413859RYR2c.*3753A>C (n.*3753A>C)
c.12649A>C (p.Ser4217Arg)
c.12682A>C (p.Ser4228Arg)
c.4838A>C
c.12661A>C (p.Ser4221Arg)
c.2714A>C
c.12613A>C (p.Ser4205Arg)
n.3856A>C
c.12715A>C (p.Ser4239Arg)
c.12712A>C (p.Ser4238Arg)
c.12691A>C (p.Ser4231Arg)
c.12685A>C (p.Ser4229Arg)
c.12679A>C (p.Ser4227Arg)
c.12655A>C (p.Ser4219Arg)
c.12478A>C (p.Ser4160Arg)
c.12622A>C (p.Ser4208Arg)
c.12694A>C (p.Ser4232Arg)
1g.237784373A>GCA085210RYR2c.*3753A>G (n.*3753A>G)
c.12649A>G (p.Ser4217Gly)
c.12682A>G (p.Ser4228Gly)
c.4838A>G
c.12661A>G (p.Ser4221Gly)
c.2714A>G
c.12613A>G (p.Ser4205Gly)
n.3856A>G
c.12715A>G (p.Ser4239Gly)
c.12712A>G (p.Ser4238Gly)
c.12691A>G (p.Ser4231Gly)
c.12685A>G (p.Ser4229Gly)
c.12679A>G (p.Ser4227Gly)
c.12655A>G (p.Ser4219Gly)
c.12478A>G (p.Ser4160Gly)
c.12622A>G (p.Ser4208Gly)
c.12694A>G (p.Ser4232Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.237784373A>TCA345413858RYR2c.*3753A>T (n.*3753A>T)
c.12649A>T (p.Ser4217Cys)
c.12682A>T (p.Ser4228Cys)
c.4838A>T
c.12661A>T (p.Ser4221Cys)
c.2714A>T
c.12613A>T (p.Ser4205Cys)
n.3856A>T
c.12715A>T (p.Ser4239Cys)
c.12712A>T (p.Ser4238Cys)
c.12691A>T (p.Ser4231Cys)
c.12685A>T (p.Ser4229Cys)
c.12679A>T (p.Ser4227Cys)
c.12655A>T (p.Ser4219Cys)
c.12478A>T (p.Ser4160Cys)
c.12622A>T (p.Ser4208Cys)
c.12694A>T (p.Ser4232Cys)
 gnomAD v4
1g.237784374G>ACA345413860RYR2c.*3754G>A (n.*3754G>A)
c.12650G>A (p.Ser4217Asn)
c.12683G>A (p.Ser4228Asn)
c.4839G>A
c.12662G>A (p.Ser4221Asn)
c.2715G>A
c.12614G>A (p.Ser4205Asn)
n.3857G>A
c.12716G>A (p.Ser4239Asn)
c.12713G>A (p.Ser4238Asn)
c.12692G>A (p.Ser4231Asn)
c.12686G>A (p.Ser4229Asn)
c.12680G>A (p.Ser4227Asn)
c.12656G>A (p.Ser4219Asn)
c.12479G>A (p.Ser4160Asn)
c.12623G>A (p.Ser4208Asn)
c.12695G>A (p.Ser4232Asn)
 gnomAD v4
1g.237784374G>CCA345413861RYR2c.*3754G>C (n.*3754G>C)
c.12650G>C (p.Ser4217Thr)
c.12683G>C (p.Ser4228Thr)
c.4839G>C
c.12662G>C (p.Ser4221Thr)
c.2715G>C
c.12614G>C (p.Ser4205Thr)
n.3857G>C
c.12716G>C (p.Ser4239Thr)
c.12713G>C (p.Ser4238Thr)
c.12692G>C (p.Ser4231Thr)
c.12686G>C (p.Ser4229Thr)
c.12680G>C (p.Ser4227Thr)
c.12656G>C (p.Ser4219Thr)
c.12479G>C (p.Ser4160Thr)
c.12623G>C (p.Ser4208Thr)
c.12695G>C (p.Ser4232Thr)
1g.237784374G>TCA345413862RYR2c.*3754G>T (n.*3754G>T)
c.12650G>T (p.Ser4217Ile)
c.12683G>T (p.Ser4228Ile)
c.4839G>T
c.12662G>T (p.Ser4221Ile)
c.2715G>T
c.12614G>T (p.Ser4205Ile)
n.3857G>T
c.12716G>T (p.Ser4239Ile)
c.12713G>T (p.Ser4238Ile)
c.12692G>T (p.Ser4231Ile)
c.12686G>T (p.Ser4229Ile)
c.12680G>T (p.Ser4227Ile)
c.12656G>T (p.Ser4219Ile)
c.12479G>T (p.Ser4160Ile)
c.12623G>T (p.Ser4208Ile)
c.12695G>T (p.Ser4232Ile)
 COSMIC COSMIC
1g.237784375C>ACA345413863RYR2c.*3755C>A (n.*3755C>A)
c.12651C>A (p.Ser4217Arg)
c.12684C>A (p.Ser4228Arg)
c.4840C>A
c.12663C>A (p.Ser4221Arg)
c.2716C>A
c.12615C>A (p.Ser4205Arg)
n.3858C>A
c.12717C>A (p.Ser4239Arg)
c.12714C>A (p.Ser4238Arg)
c.12693C>A (p.Ser4231Arg)
c.12687C>A (p.Ser4229Arg)
c.12681C>A (p.Ser4227Arg)
c.12657C>A (p.Ser4219Arg)
c.12480C>A (p.Ser4160Arg)
c.12624C>A (p.Ser4208Arg)
c.12696C>A (p.Ser4232Arg)
 dbSNP gnomAD v4 COSMIC COSMIC
1g.237784375C=CA1143720152RYR2c.*3755C= (n.*3755C=)
c.12651C= (p.Ser4217=)
c.12684C= (p.Ser4228=)
c.4840C=
c.12663C= (p.Ser4221=)
c.2716C=
c.12615C= (p.Ser4205=)
n.3858C=
c.12717C= (p.Ser4239=)
c.12714C= (p.Ser4238=)
c.12693C= (p.Ser4231=)
c.12687C= (p.Ser4229=)
c.12681C= (p.Ser4227=)
c.12657C= (p.Ser4219=)
c.12480C= (p.Ser4160=)
c.12624C= (p.Ser4208=)
c.12696C= (p.Ser4232=)
1g.237784375C>GCA085211RYR2c.*3755C>G (n.*3755C>G)
c.12651C>G (p.Ser4217Arg)
c.12684C>G (p.Ser4228Arg)
c.4840C>G
c.12663C>G (p.Ser4221Arg)
c.2716C>G
c.12615C>G (p.Ser4205Arg)
n.3858C>G
c.12717C>G (p.Ser4239Arg)
c.12714C>G (p.Ser4238Arg)
c.12693C>G (p.Ser4231Arg)
c.12687C>G (p.Ser4229Arg)
c.12681C>G (p.Ser4227Arg)
c.12657C>G (p.Ser4219Arg)
c.12480C>G (p.Ser4160Arg)
c.12624C>G (p.Ser4208Arg)
c.12696C>G (p.Ser4232Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.237784375C>TCA085212RYR2c.*3755C>T (n.*3755C>T)
c.12651C>T (p.Ser4217=)
c.12684C>T (p.Ser4228=)
c.4840C>T
c.12663C>T (p.Ser4221=)
c.2716C>T
c.12615C>T (p.Ser4205=)
n.3858C>T
c.12717C>T (p.Ser4239=)
c.12714C>T (p.Ser4238=)
c.12693C>T (p.Ser4231=)
c.12687C>T (p.Ser4229=)
c.12681C>T (p.Ser4227=)
c.12657C>T (p.Ser4219=)
c.12480C>T (p.Ser4160=)
c.12624C>T (p.Ser4208=)
c.12696C>T (p.Ser4232=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.237784376G>ACA085213RYR2c.*3756G>A (n.*3756G>A)
c.12652G>A (p.Glu4218Lys)
c.12685G>A (p.Glu4229Lys)
c.4841G>A
c.12664G>A (p.Glu4222Lys)
c.2717G>A
c.12616G>A (p.Glu4206Lys)
n.3859G>A
c.12718G>A (p.Glu4240Lys)
c.12715G>A (p.Glu4239Lys)
c.12694G>A (p.Glu4232Lys)
c.12688G>A (p.Glu4230Lys)
c.12682G>A (p.Glu4228Lys)
c.12658G>A (p.Glu4220Lys)
c.12481G>A (p.Glu4161Lys)
c.12625G>A (p.Glu4209Lys)
c.12697G>A (p.Glu4233Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237784376G>CCA345413864RYR2c.*3756G>C (n.*3756G>C)
c.12652G>C (p.Glu4218Gln)
c.12685G>C (p.Glu4229Gln)
c.4841G>C
c.12664G>C (p.Glu4222Gln)
c.2717G>C
c.12616G>C (p.Glu4206Gln)
n.3859G>C
c.12718G>C (p.Glu4240Gln)
c.12715G>C (p.Glu4239Gln)
c.12694G>C (p.Glu4232Gln)
c.12688G>C (p.Glu4230Gln)
c.12682G>C (p.Glu4228Gln)
c.12658G>C (p.Glu4220Gln)
c.12481G>C (p.Glu4161Gln)
c.12625G>C (p.Glu4209Gln)
c.12697G>C (p.Glu4233Gln)
1g.237784376G=CA2487482492RYR2c.*3756G= (n.*3756G=)
c.12652G= (p.Glu4218=)
c.12685G= (p.Glu4229=)
c.4841G=
c.12664G= (p.Glu4222=)
c.2717G=
c.12616G= (p.Glu4206=)
n.3859G=
c.12718G= (p.Glu4240=)
c.12715G= (p.Glu4239=)
c.12694G= (p.Glu4232=)
c.12688G= (p.Glu4230=)
c.12682G= (p.Glu4228=)
c.12658G= (p.Glu4220=)
c.12481G= (p.Glu4161=)
c.12625G= (p.Glu4209=)
c.12697G= (p.Glu4233=)
1g.237784376G>TCA345413865RYR2c.*3756G>T (n.*3756G>T)
c.12652G>T (p.Glu4218Ter)
c.12685G>T (p.Glu4229Ter)
c.4841G>T
c.12664G>T (p.Glu4222Ter)
c.2717G>T
c.12616G>T (p.Glu4206Ter)
n.3859G>T
c.12718G>T (p.Glu4240Ter)
c.12715G>T (p.Glu4239Ter)
c.12694G>T (p.Glu4232Ter)
c.12688G>T (p.Glu4230Ter)
c.12682G>T (p.Glu4228Ter)
c.12658G>T (p.Glu4220Ter)
c.12481G>T (p.Glu4161Ter)
c.12625G>T (p.Glu4209Ter)
c.12697G>T (p.Glu4233Ter)
 COSMIC COSMIC
1g.237784376_237784379delinsGAGACA2487482491RYR2c.*3756_*3759delinsGAGA (n.*3756_*3759delinsGAGA)
c.12652_12655delinsGAGA (p.Glu4218=)
c.12685_12688delinsGAGA (p.Glu4229=)
c.4841_4844delinsGAGA
c.12664_12667delinsGAGA (p.Glu4222=)
c.2717_2720delinsGAGA
c.12616_12619delinsGAGA (p.Glu4206=)
n.3859_3862delinsGAGA
c.12718_12721delinsGAGA (p.Glu4240=)
c.12715_12718delinsGAGA (p.Glu4239=)
c.12694_12697delinsGAGA (p.Glu4232=)
c.12688_12691delinsGAGA (p.Glu4230=)
c.12682_12685delinsGAGA (p.Glu4228=)
c.12658_12661delinsGAGA (p.Glu4220=)
c.12481_12484delinsGAGA (p.Glu4161=)
c.12625_12628delinsGAGA (p.Glu4209=)
c.12697_12700delinsGAGA (p.Glu4233=)
1g.237784377A>CCA345413866RYR2c.*3757A>C (n.*3757A>C)
c.12653A>C (p.Glu4218Ala)
c.12686A>C (p.Glu4229Ala)
c.4842A>C
c.12665A>C (p.Glu4222Ala)
c.2718A>C
c.12617A>C (p.Glu4206Ala)
n.3860A>C
c.12719A>C (p.Glu4240Ala)
c.12716A>C (p.Glu4239Ala)
c.12695A>C (p.Glu4232Ala)
c.12689A>C (p.Glu4230Ala)
c.12683A>C (p.Glu4228Ala)
c.12659A>C (p.Glu4220Ala)
c.12482A>C (p.Glu4161Ala)
c.12626A>C (p.Glu4209Ala)
c.12698A>C (p.Glu4233Ala)
1g.237784377A>GCA345413867RYR2c.*3757A>G (n.*3757A>G)
c.12653A>G (p.Glu4218Gly)
c.12686A>G (p.Glu4229Gly)
c.4842A>G
c.12665A>G (p.Glu4222Gly)
c.2718A>G
c.12617A>G (p.Glu4206Gly)
n.3860A>G
c.12719A>G (p.Glu4240Gly)
c.12716A>G (p.Glu4239Gly)
c.12695A>G (p.Glu4232Gly)
c.12689A>G (p.Glu4230Gly)
c.12683A>G (p.Glu4228Gly)
c.12659A>G (p.Glu4220Gly)
c.12482A>G (p.Glu4161Gly)
c.12626A>G (p.Glu4209Gly)
c.12698A>G (p.Glu4233Gly)
 gnomAD v4
1g.237784377A>TCA345413868RYR2c.*3757A>T (n.*3757A>T)
c.12653A>T (p.Glu4218Val)
c.12686A>T (p.Glu4229Val)
c.4842A>T
c.12665A>T (p.Glu4222Val)
c.2718A>T
c.12617A>T (p.Glu4206Val)
n.3860A>T
c.12719A>T (p.Glu4240Val)
c.12716A>T (p.Glu4239Val)
c.12695A>T (p.Glu4232Val)
c.12689A>T (p.Glu4230Val)
c.12683A>T (p.Glu4228Val)
c.12659A>T (p.Glu4220Val)
c.12482A>T (p.Glu4161Val)
c.12626A>T (p.Glu4209Val)
c.12698A>T (p.Glu4233Val)
 COSMIC COSMIC
1g.237784379_237784381delCA007668RYR2c.*3759_*3761del (n.*3759_*3761del)
c.12655_12657del (p.Lys4219del)
c.12688_12690del (p.Lys4230del)
c.4844_4846del
c.12667_12669del (p.Lys4223del)
c.2720_2722del
c.12619_12621del (p.Lys4207del)
n.3862_3864del
c.12721_12723del (p.Lys4241del)
c.12718_12720del (p.Lys4240del)
c.12697_12699del (p.Lys4233del)
c.12691_12693del (p.Lys4231del)
c.12685_12687del (p.Lys4229del)
c.12661_12663del (p.Lys4221del)
c.12484_12486del (p.Lys4162del)
c.12628_12630del (p.Lys4210del)
c.12700_12702del (p.Lys4234del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237784378G>ACA424032157RYR2c.*3758G>A (n.*3758G>A)
c.12654G>A (p.Glu4218=)
c.12687G>A (p.Glu4229=)
c.4843G>A
c.12666G>A (p.Glu4222=)
c.2719G>A
c.12618G>A (p.Glu4206=)
n.3861G>A
c.12720G>A (p.Glu4240=)
c.12717G>A (p.Glu4239=)
c.12696G>A (p.Glu4232=)
c.12690G>A (p.Glu4230=)
c.12684G>A (p.Glu4228=)
c.12660G>A (p.Glu4220=)
c.12483G>A (p.Glu4161=)
c.12627G>A (p.Glu4209=)
c.12699G>A (p.Glu4233=)
 ClinVar dbSNP gnomAD v4
1g.237784378G>CCA345413870RYR2c.*3758G>C (n.*3758G>C)
c.12654G>C (p.Glu4218Asp)
c.12687G>C (p.Glu4229Asp)
c.4843G>C
c.12666G>C (p.Glu4222Asp)
c.2719G>C
c.12618G>C (p.Glu4206Asp)
n.3861G>C
c.12720G>C (p.Glu4240Asp)
c.12717G>C (p.Glu4239Asp)
c.12696G>C (p.Glu4232Asp)
c.12690G>C (p.Glu4230Asp)
c.12684G>C (p.Glu4228Asp)
c.12660G>C (p.Glu4220Asp)
c.12483G>C (p.Glu4161Asp)
c.12627G>C (p.Glu4209Asp)
c.12699G>C (p.Glu4233Asp)
1g.237784378G=CA2487482493RYR2c.*3758G= (n.*3758G=)
c.12654G= (p.Glu4218=)
c.12687G= (p.Glu4229=)
c.4843G=
c.12666G= (p.Glu4222=)
c.2719G=
c.12618G= (p.Glu4206=)
n.3861G=
c.12720G= (p.Glu4240=)
c.12717G= (p.Glu4239=)
c.12696G= (p.Glu4232=)
c.12690G= (p.Glu4230=)
c.12684G= (p.Glu4228=)
c.12660G= (p.Glu4220=)
c.12483G= (p.Glu4161=)
c.12627G= (p.Glu4209=)
c.12699G= (p.Glu4233=)
1g.237784378G>TCA345413869RYR2c.*3758G>T (n.*3758G>T)
c.12654G>T (p.Glu4218Asp)
c.12687G>T (p.Glu4229Asp)
c.4843G>T
c.12666G>T (p.Glu4222Asp)
c.2719G>T
c.12618G>T (p.Glu4206Asp)
n.3861G>T
c.12720G>T (p.Glu4240Asp)
c.12717G>T (p.Glu4239Asp)
c.12696G>T (p.Glu4232Asp)
c.12690G>T (p.Glu4230Asp)
c.12684G>T (p.Glu4228Asp)
c.12660G>T (p.Glu4220Asp)
c.12483G>T (p.Glu4161Asp)
c.12627G>T (p.Glu4209Asp)
c.12699G>T (p.Glu4233Asp)
1g.237784379A=CA2487482494RYR2c.*3759A= (n.*3759A=)
c.12655A= (p.Lys4219=)
c.12688A= (p.Lys4230=)
c.4844A=
c.12667A= (p.Lys4223=)
c.2720A=
c.12619A= (p.Lys4207=)
n.3862A=
c.12721A= (p.Lys4241=)
c.12718A= (p.Lys4240=)
c.12697A= (p.Lys4233=)
c.12691A= (p.Lys4231=)
c.12685A= (p.Lys4229=)
c.12661A= (p.Lys4221=)
c.12484A= (p.Lys4162=)
c.12628A= (p.Lys4210=)
c.12700A= (p.Lys4234=)
1g.237784379A>CCA345413871RYR2c.*3759A>C (n.*3759A>C)
c.12655A>C (p.Lys4219Gln)
c.12688A>C (p.Lys4230Gln)
c.4844A>C
c.12667A>C (p.Lys4223Gln)
c.2720A>C
c.12619A>C (p.Lys4207Gln)
n.3862A>C
c.12721A>C (p.Lys4241Gln)
c.12718A>C (p.Lys4240Gln)
c.12697A>C (p.Lys4233Gln)
c.12691A>C (p.Lys4231Gln)
c.12685A>C (p.Lys4229Gln)
c.12661A>C (p.Lys4221Gln)
c.12484A>C (p.Lys4162Gln)
c.12628A>C (p.Lys4210Gln)
c.12700A>C (p.Lys4234Gln)
 gnomAD v4
1g.237784379A>GCA345413872RYR2c.*3759A>G (n.*3759A>G)
c.12655A>G (p.Lys4219Glu)
c.12688A>G (p.Lys4230Glu)
c.4844A>G
c.12667A>G (p.Lys4223Glu)
c.2720A>G
c.12619A>G (p.Lys4207Glu)
n.3862A>G
c.12721A>G (p.Lys4241Glu)
c.12718A>G (p.Lys4240Glu)
c.12697A>G (p.Lys4233Glu)
c.12691A>G (p.Lys4231Glu)
c.12685A>G (p.Lys4229Glu)
c.12661A>G (p.Lys4221Glu)
c.12484A>G (p.Lys4162Glu)
c.12628A>G (p.Lys4210Glu)
c.12700A>G (p.Lys4234Glu)
 ClinVar dbSNP gnomAD v4
1g.237784379A>TCA345413873RYR2c.*3759A>T (n.*3759A>T)
c.12655A>T (p.Lys4219Ter)
c.12688A>T (p.Lys4230Ter)
c.4844A>T
c.12667A>T (p.Lys4223Ter)
c.2720A>T
c.12619A>T (p.Lys4207Ter)
n.3862A>T
c.12721A>T (p.Lys4241Ter)
c.12718A>T (p.Lys4240Ter)
c.12697A>T (p.Lys4233Ter)
c.12691A>T (p.Lys4231Ter)
c.12685A>T (p.Lys4229Ter)
c.12661A>T (p.Lys4221Ter)
c.12484A>T (p.Lys4162Ter)
c.12628A>T (p.Lys4210Ter)
c.12700A>T (p.Lys4234Ter)
1g.237784380A>CCA345413874RYR2c.*3760A>C (n.*3760A>C)
c.12656A>C (p.Lys4219Thr)
c.12689A>C (p.Lys4230Thr)
c.4845A>C
c.12668A>C (p.Lys4223Thr)
c.2721A>C
c.12620A>C (p.Lys4207Thr)
n.3863A>C
c.12722A>C (p.Lys4241Thr)
c.12719A>C (p.Lys4240Thr)
c.12698A>C (p.Lys4233Thr)
c.12692A>C (p.Lys4231Thr)
c.12686A>C (p.Lys4229Thr)
c.12662A>C (p.Lys4221Thr)
c.12485A>C (p.Lys4162Thr)
c.12629A>C (p.Lys4210Thr)
c.12701A>C (p.Lys4234Thr)
1g.237784380A>GCA345413875RYR2c.*3760A>G (n.*3760A>G)
c.12656A>G (p.Lys4219Arg)
c.12689A>G (p.Lys4230Arg)
c.4845A>G
c.12668A>G (p.Lys4223Arg)
c.2721A>G
c.12620A>G (p.Lys4207Arg)
n.3863A>G
c.12722A>G (p.Lys4241Arg)
c.12719A>G (p.Lys4240Arg)
c.12698A>G (p.Lys4233Arg)
c.12692A>G (p.Lys4231Arg)
c.12686A>G (p.Lys4229Arg)
c.12662A>G (p.Lys4221Arg)
c.12485A>G (p.Lys4162Arg)
c.12629A>G (p.Lys4210Arg)
c.12701A>G (p.Lys4234Arg)
1g.237784380A>TCA345413876RYR2c.*3760A>T (n.*3760A>T)
c.12656A>T (p.Lys4219Met)
c.12689A>T (p.Lys4230Met)
c.4845A>T
c.12668A>T (p.Lys4223Met)
c.2721A>T
c.12620A>T (p.Lys4207Met)
n.3863A>T
c.12722A>T (p.Lys4241Met)
c.12719A>T (p.Lys4240Met)
c.12698A>T (p.Lys4233Met)
c.12692A>T (p.Lys4231Met)
c.12686A>T (p.Lys4229Met)
c.12662A>T (p.Lys4221Met)
c.12485A>T (p.Lys4162Met)
c.12629A>T (p.Lys4210Met)
c.12701A>T (p.Lys4234Met)
1g.237784381G>ACA085215RYR2c.*3761G>A (n.*3761G>A)
c.12657G>A (p.Lys4219=)
c.12690G>A (p.Lys4230=)
c.4846G>A
c.12669G>A (p.Lys4223=)
c.2722G>A
c.12621G>A (p.Lys4207=)
n.3864G>A
c.12723G>A (p.Lys4241=)
c.12720G>A (p.Lys4240=)
c.12699G>A (p.Lys4233=)
c.12693G>A (p.Lys4231=)
c.12687G>A (p.Lys4229=)
c.12663G>A (p.Lys4221=)
c.12486G>A (p.Lys4162=)
c.12630G>A (p.Lys4210=)
c.12702G>A (p.Lys4234=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237784381G>CCA345413877RYR2c.*3761G>C (n.*3761G>C)
c.12657G>C (p.Lys4219Asn)
c.12690G>C (p.Lys4230Asn)
c.4846G>C
c.12669G>C (p.Lys4223Asn)
c.2722G>C
c.12621G>C (p.Lys4207Asn)
n.3864G>C
c.12723G>C (p.Lys4241Asn)
c.12720G>C (p.Lys4240Asn)
c.12699G>C (p.Lys4233Asn)
c.12693G>C (p.Lys4231Asn)
c.12687G>C (p.Lys4229Asn)
c.12663G>C (p.Lys4221Asn)
c.12486G>C (p.Lys4162Asn)
c.12630G>C (p.Lys4210Asn)
c.12702G>C (p.Lys4234Asn)
 gnomAD v4
1g.237784381G=CA1142206630RYR2c.*3761G= (n.*3761G=)
c.12657G= (p.Lys4219=)
c.12690G= (p.Lys4230=)
c.4846G=
c.12669G= (p.Lys4223=)
c.2722G=
c.12621G= (p.Lys4207=)
n.3864G=
c.12723G= (p.Lys4241=)
c.12720G= (p.Lys4240=)
c.12699G= (p.Lys4233=)
c.12693G= (p.Lys4231=)
c.12687G= (p.Lys4229=)
c.12663G= (p.Lys4221=)
c.12486G= (p.Lys4162=)
c.12630G= (p.Lys4210=)
c.12702G= (p.Lys4234=)
1g.237784381G>TCA345413878RYR2c.*3761G>T (n.*3761G>T)
c.12657G>T (p.Lys4219Asn)
c.12690G>T (p.Lys4230Asn)
c.4846G>T
c.12669G>T (p.Lys4223Asn)
c.2722G>T
c.12621G>T (p.Lys4207Asn)
n.3864G>T
c.12723G>T (p.Lys4241Asn)
c.12720G>T (p.Lys4240Asn)
c.12699G>T (p.Lys4233Asn)
c.12693G>T (p.Lys4231Asn)
c.12687G>T (p.Lys4229Asn)
c.12663G>T (p.Lys4221Asn)
c.12486G>T (p.Lys4162Asn)
c.12630G>T (p.Lys4210Asn)
c.12702G>T (p.Lys4234Asn)
 dbSNP
1g.237784382G>ACA345413879RYR2c.*3762G>A (n.*3762G>A)
c.12658G>A (p.Glu4220Lys)
c.12691G>A (p.Glu4231Lys)
c.4847G>A
c.12670G>A (p.Glu4224Lys)
c.2723G>A
c.12622G>A (p.Glu4208Lys)
n.3865G>A
c.12724G>A (p.Glu4242Lys)
c.12721G>A (p.Glu4241Lys)
c.12700G>A (p.Glu4234Lys)
c.12694G>A (p.Glu4232Lys)
c.12688G>A (p.Glu4230Lys)
c.12664G>A (p.Glu4222Lys)
c.12487G>A (p.Glu4163Lys)
c.12631G>A (p.Glu4211Lys)
c.12703G>A (p.Glu4235Lys)
 COSMIC COSMIC
1g.237784382G>CCA345413880RYR2c.*3762G>C (n.*3762G>C)
c.12658G>C (p.Glu4220Gln)
c.12691G>C (p.Glu4231Gln)
c.4847G>C
c.12670G>C (p.Glu4224Gln)
c.2723G>C
c.12622G>C (p.Glu4208Gln)
n.3865G>C
c.12724G>C (p.Glu4242Gln)
c.12721G>C (p.Glu4241Gln)
c.12700G>C (p.Glu4234Gln)
c.12694G>C (p.Glu4232Gln)
c.12688G>C (p.Glu4230Gln)
c.12664G>C (p.Glu4222Gln)
c.12487G>C (p.Glu4163Gln)
c.12631G>C (p.Glu4211Gln)
c.12703G>C (p.Glu4235Gln)
1g.237784382G>TCA345413881RYR2c.*3762G>T (n.*3762G>T)
c.12658G>T (p.Glu4220Ter)
c.12691G>T (p.Glu4231Ter)
c.4847G>T
c.12670G>T (p.Glu4224Ter)
c.2723G>T
c.12622G>T (p.Glu4208Ter)
n.3865G>T
c.12724G>T (p.Glu4242Ter)
c.12721G>T (p.Glu4241Ter)
c.12700G>T (p.Glu4234Ter)
c.12694G>T (p.Glu4232Ter)
c.12688G>T (p.Glu4230Ter)
c.12664G>T (p.Glu4222Ter)
c.12487G>T (p.Glu4163Ter)
c.12631G>T (p.Glu4211Ter)
c.12703G>T (p.Glu4235Ter)
1g.237784383A>CCA345413884RYR2c.*3763A>C (n.*3763A>C)
c.12659A>C (p.Glu4220Ala)
c.12692A>C (p.Glu4231Ala)
c.4848A>C
c.12671A>C (p.Glu4224Ala)
c.2724A>C
c.12623A>C (p.Glu4208Ala)
n.3866A>C
c.12725A>C (p.Glu4242Ala)
c.12722A>C (p.Glu4241Ala)
c.12701A>C (p.Glu4234Ala)
c.12695A>C (p.Glu4232Ala)
c.12689A>C (p.Glu4230Ala)
c.12665A>C (p.Glu4222Ala)
c.12488A>C (p.Glu4163Ala)
c.12632A>C (p.Glu4211Ala)
c.12704A>C (p.Glu4235Ala)
 gnomAD v4
1g.237784383A>GCA345413883RYR2c.*3763A>G (n.*3763A>G)
c.12659A>G (p.Glu4220Gly)
c.12692A>G (p.Glu4231Gly)
c.4848A>G
c.12671A>G (p.Glu4224Gly)
c.2724A>G
c.12623A>G (p.Glu4208Gly)
n.3866A>G
c.12725A>G (p.Glu4242Gly)
c.12722A>G (p.Glu4241Gly)
c.12701A>G (p.Glu4234Gly)
c.12695A>G (p.Glu4232Gly)
c.12689A>G (p.Glu4230Gly)
c.12665A>G (p.Glu4222Gly)
c.12488A>G (p.Glu4163Gly)
c.12632A>G (p.Glu4211Gly)
c.12704A>G (p.Glu4235Gly)
1g.237784383A>TCA345413882RYR2c.*3763A>T (n.*3763A>T)
c.12659A>T (p.Glu4220Val)
c.12692A>T (p.Glu4231Val)
c.4848A>T
c.12671A>T (p.Glu4224Val)
c.2724A>T
c.12623A>T (p.Glu4208Val)
n.3866A>T
c.12725A>T (p.Glu4242Val)
c.12722A>T (p.Glu4241Val)
c.12701A>T (p.Glu4234Val)
c.12695A>T (p.Glu4232Val)
c.12689A>T (p.Glu4230Val)
c.12665A>T (p.Glu4222Val)
c.12488A>T (p.Glu4163Val)
c.12632A>T (p.Glu4211Val)
c.12704A>T (p.Glu4235Val)
1g.237784384G>ACA424032164RYR2c.*3764G>A (n.*3764G>A)
c.12660G>A (p.Glu4220=)
c.12693G>A (p.Glu4231=)
c.4849G>A
c.12672G>A (p.Glu4224=)
c.2725G>A
c.12624G>A (p.Glu4208=)
n.3867G>A
c.12726G>A (p.Glu4242=)
c.12723G>A (p.Glu4241=)
c.12702G>A (p.Glu4234=)
c.12696G>A (p.Glu4232=)
c.12690G>A (p.Glu4230=)
c.12666G>A (p.Glu4222=)
c.12489G>A (p.Glu4163=)
c.12633G>A (p.Glu4211=)
c.12705G>A (p.Glu4235=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
1g.237784384G>CCA085216RYR2c.*3764G>C (n.*3764G>C)
c.12660G>C (p.Glu4220Asp)
c.12693G>C (p.Glu4231Asp)
c.4849G>C
c.12672G>C (p.Glu4224Asp)
c.2725G>C
c.12624G>C (p.Glu4208Asp)
n.3867G>C
c.12726G>C (p.Glu4242Asp)
c.12723G>C (p.Glu4241Asp)
c.12702G>C (p.Glu4234Asp)
c.12696G>C (p.Glu4232Asp)
c.12690G>C (p.Glu4230Asp)
c.12666G>C (p.Glu4222Asp)
c.12489G>C (p.Glu4163Asp)
c.12633G>C (p.Glu4211Asp)
c.12705G>C (p.Glu4235Asp)
 ClinVar dbSNP ExAC gnomAD v2
1g.237784384G=CA1148421670RYR2c.*3764G= (n.*3764G=)
c.12660G= (p.Glu4220=)
c.12693G= (p.Glu4231=)
c.4849G=
c.12672G= (p.Glu4224=)
c.2725G=
c.12624G= (p.Glu4208=)
n.3867G=
c.12726G= (p.Glu4242=)
c.12723G= (p.Glu4241=)
c.12702G= (p.Glu4234=)
c.12696G= (p.Glu4232=)
c.12690G= (p.Glu4230=)
c.12666G= (p.Glu4222=)
c.12489G= (p.Glu4163=)
c.12633G= (p.Glu4211=)
c.12705G= (p.Glu4235=)
1g.237784384G>TCA345413885RYR2c.*3764G>T (n.*3764G>T)
c.12660G>T (p.Glu4220Asp)
c.12693G>T (p.Glu4231Asp)
c.4849G>T
c.12672G>T (p.Glu4224Asp)
c.2725G>T
c.12624G>T (p.Glu4208Asp)
n.3867G>T
c.12726G>T (p.Glu4242Asp)
c.12723G>T (p.Glu4241Asp)
c.12702G>T (p.Glu4234Asp)
c.12696G>T (p.Glu4232Asp)
c.12690G>T (p.Glu4230Asp)
c.12666G>T (p.Glu4222Asp)
c.12489G>T (p.Glu4163Asp)
c.12633G>T (p.Glu4211Asp)
c.12705G>T (p.Glu4235Asp)
 dbSNP
1g.237784385A=CA2487482495RYR2c.*3765A= (n.*3765A=)
c.12661A= (p.Arg4221=)
c.12694A= (p.Arg4232=)
c.4850A=
c.12673A= (p.Arg4225=)
c.2726A=
c.12625A= (p.Arg4209=)
n.3868A=
c.12727A= (p.Arg4243=)
c.12724A= (p.Arg4242=)
c.12703A= (p.Arg4235=)
c.12697A= (p.Arg4233=)
c.12691A= (p.Arg4231=)
c.12667A= (p.Arg4223=)
c.12490A= (p.Arg4164=)
c.12634A= (p.Arg4212=)
c.12706A= (p.Arg4236=)
1g.237784385A>CCA424032165RYR2c.*3765A>C (n.*3765A>C)
c.12661A>C (p.Arg4221=)
c.12694A>C (p.Arg4232=)
c.4850A>C
c.12673A>C (p.Arg4225=)
c.2726A>C
c.12625A>C (p.Arg4209=)
n.3868A>C
c.12727A>C (p.Arg4243=)
c.12724A>C (p.Arg4242=)
c.12703A>C (p.Arg4235=)
c.12697A>C (p.Arg4233=)
c.12691A>C (p.Arg4231=)
c.12667A>C (p.Arg4223=)
c.12490A>C (p.Arg4164=)
c.12634A>C (p.Arg4212=)
c.12706A>C (p.Arg4236=)
1g.237784385A>GCA345413886RYR2c.*3765A>G (n.*3765A>G)
c.12661A>G (p.Arg4221Gly)
c.12694A>G (p.Arg4232Gly)
c.4850A>G
c.12673A>G (p.Arg4225Gly)
c.2726A>G
c.12625A>G (p.Arg4209Gly)
n.3868A>G
c.12727A>G (p.Arg4243Gly)
c.12724A>G (p.Arg4242Gly)
c.12703A>G (p.Arg4235Gly)
c.12697A>G (p.Arg4233Gly)
c.12691A>G (p.Arg4231Gly)
c.12667A>G (p.Arg4223Gly)
c.12490A>G (p.Arg4164Gly)
c.12634A>G (p.Arg4212Gly)
c.12706A>G (p.Arg4236Gly)
1g.237784385A>TCA345413887RYR2c.*3765A>T (n.*3765A>T)
c.12661A>T (p.Arg4221Trp)
c.12694A>T (p.Arg4232Trp)
c.4850A>T
c.12673A>T (p.Arg4225Trp)
c.2726A>T
c.12625A>T (p.Arg4209Trp)
n.3868A>T
c.12727A>T (p.Arg4243Trp)
c.12724A>T (p.Arg4242Trp)
c.12703A>T (p.Arg4235Trp)
c.12697A>T (p.Arg4233Trp)
c.12691A>T (p.Arg4231Trp)
c.12667A>T (p.Arg4223Trp)
c.12490A>T (p.Arg4164Trp)
c.12634A>T (p.Arg4212Trp)
c.12706A>T (p.Arg4236Trp)
 dbSNP
1g.237784386G>ACA345413888RYR2c.*3766G>A (n.*3766G>A)
c.12662G>A (p.Arg4221Lys)
c.12695G>A (p.Arg4232Lys)
c.4851G>A
c.12674G>A (p.Arg4225Lys)
c.2727G>A
c.12626G>A (p.Arg4209Lys)
n.3869G>A
c.12728G>A (p.Arg4243Lys)
c.12725G>A (p.Arg4242Lys)
c.12704G>A (p.Arg4235Lys)
c.12698G>A (p.Arg4233Lys)
c.12692G>A (p.Arg4231Lys)
c.12668G>A (p.Arg4223Lys)
c.12491G>A (p.Arg4164Lys)
c.12635G>A (p.Arg4212Lys)
c.12707G>A (p.Arg4236Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.237784386G>CCA345413890RYR2c.*3766G>C (n.*3766G>C)
c.12662G>C (p.Arg4221Thr)
c.12695G>C (p.Arg4232Thr)
c.4851G>C
c.12674G>C (p.Arg4225Thr)
c.2727G>C
c.12626G>C (p.Arg4209Thr)
n.3869G>C
c.12728G>C (p.Arg4243Thr)
c.12725G>C (p.Arg4242Thr)
c.12704G>C (p.Arg4235Thr)
c.12698G>C (p.Arg4233Thr)
c.12692G>C (p.Arg4231Thr)
c.12668G>C (p.Arg4223Thr)
c.12491G>C (p.Arg4164Thr)
c.12635G>C (p.Arg4212Thr)
c.12707G>C (p.Arg4236Thr)
1g.237784386G=CA2487482496RYR2c.*3766G= (n.*3766G=)
c.12662G= (p.Arg4221=)
c.12695G= (p.Arg4232=)
c.4851G=
c.12674G= (p.Arg4225=)
c.2727G=
c.12626G= (p.Arg4209=)
n.3869G=
c.12728G= (p.Arg4243=)
c.12725G= (p.Arg4242=)
c.12704G= (p.Arg4235=)
c.12698G= (p.Arg4233=)
c.12692G= (p.Arg4231=)
c.12668G= (p.Arg4223=)
c.12491G= (p.Arg4164=)
c.12635G= (p.Arg4212=)
c.12707G= (p.Arg4236=)
1g.237784386G>TCA345413889RYR2c.*3766G>T (n.*3766G>T)
c.12662G>T (p.Arg4221Met)
c.12695G>T (p.Arg4232Met)
c.4851G>T
c.12674G>T (p.Arg4225Met)
c.2727G>T
c.12626G>T (p.Arg4209Met)
n.3869G>T
c.12728G>T (p.Arg4243Met)
c.12725G>T (p.Arg4242Met)
c.12704G>T (p.Arg4235Met)
c.12698G>T (p.Arg4233Met)
c.12692G>T (p.Arg4231Met)
c.12668G>T (p.Arg4223Met)
c.12491G>T (p.Arg4164Met)
c.12635G>T (p.Arg4212Met)
c.12707G>T (p.Arg4236Met)
1g.237784387G>ACA066542RYR2c.*3767G>A (n.*3767G>A)
c.12663G>A (p.Arg4221=)
c.12696G>A (p.Arg4232=)
c.4852G>A
c.12675G>A (p.Arg4225=)
c.2728G>A
c.12627G>A (p.Arg4209=)
n.3870G>A
c.12729G>A (p.Arg4243=)
c.12726G>A (p.Arg4242=)
c.12705G>A (p.Arg4235=)
c.12699G>A (p.Arg4233=)
c.12693G>A (p.Arg4231=)
c.12669G>A (p.Arg4223=)
c.12492G>A (p.Arg4164=)
c.12636G>A (p.Arg4212=)
c.12708G>A (p.Arg4236=)
1g.237784387G>CCA345413891RYR2c.*3767G>C (n.*3767G>C)
c.12663G>C (p.Arg4221Ser)
c.12696G>C (p.Arg4232Ser)
c.4852G>C
c.12675G>C (p.Arg4225Ser)
c.2728G>C
c.12627G>C (p.Arg4209Ser)
n.3870G>C
c.12729G>C (p.Arg4243Ser)
c.12726G>C (p.Arg4242Ser)
c.12705G>C (p.Arg4235Ser)
c.12699G>C (p.Arg4233Ser)
c.12693G>C (p.Arg4231Ser)
c.12669G>C (p.Arg4223Ser)
c.12492G>C (p.Arg4164Ser)
c.12636G>C (p.Arg4212Ser)
c.12708G>C (p.Arg4236Ser)
1g.237784387G=CA2487482497RYR2c.*3767G= (n.*3767G=)
c.12663G= (p.Arg4221=)
c.12696G= (p.Arg4232=)
c.4852G=
c.12675G= (p.Arg4225=)
c.2728G=
c.12627G= (p.Arg4209=)
n.3870G=
c.12729G= (p.Arg4243=)
c.12726G= (p.Arg4242=)
c.12705G= (p.Arg4235=)
c.12699G= (p.Arg4233=)
c.12693G= (p.Arg4231=)
c.12669G= (p.Arg4223=)
c.12492G= (p.Arg4164=)
c.12636G= (p.Arg4212=)
c.12708G= (p.Arg4236=)
1g.237784387G>TCA066546RYR2c.*3767G>T (n.*3767G>T)
c.12663G>T (p.Arg4221Ser)
c.12696G>T (p.Arg4232Ser)
c.4852G>T
c.12675G>T (p.Arg4225Ser)
c.2728G>T
c.12627G>T (p.Arg4209Ser)
n.3870G>T
c.12729G>T (p.Arg4243Ser)
c.12726G>T (p.Arg4242Ser)
c.12705G>T (p.Arg4235Ser)
c.12699G>T (p.Arg4233Ser)
c.12693G>T (p.Arg4231Ser)
c.12669G>T (p.Arg4223Ser)
c.12492G>T (p.Arg4164Ser)
c.12636G>T (p.Arg4212Ser)
c.12708G>T (p.Arg4236Ser)
 dbSNP gnomAD v4
1g.237784388C>ACA345413892RYR2c.*3768C>A (n.*3768C>A)
c.12664C>A (p.Pro4222Thr)
c.12697C>A (p.Pro4233Thr)
c.4853C>A
c.12676C>A (p.Pro4226Thr)
c.2729C>A
c.12628C>A (p.Pro4210Thr)
n.3871C>A
c.12730C>A (p.Pro4244Thr)
c.12727C>A (p.Pro4243Thr)
c.12706C>A (p.Pro4236Thr)
c.12700C>A (p.Pro4234Thr)
c.12694C>A (p.Pro4232Thr)
c.12670C>A (p.Pro4224Thr)
c.12493C>A (p.Pro4165Thr)
c.12637C>A (p.Pro4213Thr)
c.12709C>A (p.Pro4237Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.237784388C=CA2487482498RYR2c.*3768C= (n.*3768C=)
c.12664C= (p.Pro4222=)
c.12697C= (p.Pro4233=)
c.4853C=
c.12676C= (p.Pro4226=)
c.2729C=
c.12628C= (p.Pro4210=)
n.3871C=
c.12730C= (p.Pro4244=)
c.12727C= (p.Pro4243=)
c.12706C= (p.Pro4236=)
c.12700C= (p.Pro4234=)
c.12694C= (p.Pro4232=)
c.12670C= (p.Pro4224=)
c.12493C= (p.Pro4165=)
c.12637C= (p.Pro4213=)
c.12709C= (p.Pro4237=)
1g.237784388C>GCA345413893RYR2c.*3768C>G (n.*3768C>G)
c.12664C>G (p.Pro4222Ala)
c.12697C>G (p.Pro4233Ala)
c.4853C>G
c.12676C>G (p.Pro4226Ala)
c.2729C>G
c.12628C>G (p.Pro4210Ala)
n.3871C>G
c.12730C>G (p.Pro4244Ala)
c.12727C>G (p.Pro4243Ala)
c.12706C>G (p.Pro4236Ala)
c.12700C>G (p.Pro4234Ala)
c.12694C>G (p.Pro4232Ala)
c.12670C>G (p.Pro4224Ala)
c.12493C>G (p.Pro4165Ala)
c.12637C>G (p.Pro4213Ala)
c.12709C>G (p.Pro4237Ala)
1g.237784388C>TCA345413894RYR2c.*3768C>T (n.*3768C>T)
c.12664C>T (p.Pro4222Ser)
c.12697C>T (p.Pro4233Ser)
c.4853C>T
c.12676C>T (p.Pro4226Ser)
c.2729C>T
c.12628C>T (p.Pro4210Ser)
n.3871C>T
c.12730C>T (p.Pro4244Ser)
c.12727C>T (p.Pro4243Ser)
c.12706C>T (p.Pro4236Ser)
c.12700C>T (p.Pro4234Ser)
c.12694C>T (p.Pro4232Ser)
c.12670C>T (p.Pro4224Ser)
c.12493C>T (p.Pro4165Ser)
c.12637C>T (p.Pro4213Ser)
c.12709C>T (p.Pro4237Ser)
 ClinVar dbSNP
1g.237784389C>ACA345413895RYR2c.*3769C>A (n.*3769C>A)
c.12665C>A (p.Pro4222Gln)
c.12698C>A (p.Pro4233Gln)
c.4854C>A
c.12677C>A (p.Pro4226Gln)
c.2730C>A
c.12629C>A (p.Pro4210Gln)
n.3872C>A
c.12731C>A (p.Pro4244Gln)
c.12728C>A (p.Pro4243Gln)
c.12707C>A (p.Pro4236Gln)
c.12701C>A (p.Pro4234Gln)
c.12695C>A (p.Pro4232Gln)
c.12671C>A (p.Pro4224Gln)
c.12494C>A (p.Pro4165Gln)
c.12638C>A (p.Pro4213Gln)
c.12710C>A (p.Pro4237Gln)
1g.237784389C=CA2487482499RYR2c.*3769C= (n.*3769C=)
c.12665C= (p.Pro4222=)
c.12698C= (p.Pro4233=)
c.4854C=
c.12677C= (p.Pro4226=)
c.2730C=
c.12629C= (p.Pro4210=)
n.3872C=
c.12731C= (p.Pro4244=)
c.12728C= (p.Pro4243=)
c.12707C= (p.Pro4236=)
c.12701C= (p.Pro4234=)
c.12695C= (p.Pro4232=)
c.12671C= (p.Pro4224=)
c.12494C= (p.Pro4165=)
c.12638C= (p.Pro4213=)
c.12710C= (p.Pro4237=)
1g.237784389C>GCA345413896RYR2c.*3769C>G (n.*3769C>G)
c.12665C>G (p.Pro4222Arg)
c.12698C>G (p.Pro4233Arg)
c.4854C>G
c.12677C>G (p.Pro4226Arg)
c.2730C>G
c.12629C>G (p.Pro4210Arg)
n.3872C>G
c.12731C>G (p.Pro4244Arg)
c.12728C>G (p.Pro4243Arg)
c.12707C>G (p.Pro4236Arg)
c.12701C>G (p.Pro4234Arg)
c.12695C>G (p.Pro4232Arg)
c.12671C>G (p.Pro4224Arg)
c.12494C>G (p.Pro4165Arg)
c.12638C>G (p.Pro4213Arg)
c.12710C>G (p.Pro4237Arg)
1g.237784389C>TCA345413897RYR2c.*3769C>T (n.*3769C>T)
c.12665C>T (p.Pro4222Leu)
c.12698C>T (p.Pro4233Leu)
c.4854C>T
c.12677C>T (p.Pro4226Leu)
c.2730C>T
c.12629C>T (p.Pro4210Leu)
n.3872C>T
c.12731C>T (p.Pro4244Leu)
c.12728C>T (p.Pro4243Leu)
c.12707C>T (p.Pro4236Leu)
c.12701C>T (p.Pro4234Leu)
c.12695C>T (p.Pro4232Leu)
c.12671C>T (p.Pro4224Leu)
c.12494C>T (p.Pro4165Leu)
c.12638C>T (p.Pro4213Leu)
c.12710C>T (p.Pro4237Leu)
 dbSNP gnomAD v4 COSMIC COSMIC
1g.237784390G>ACA085217RYR2c.*3770G>A (n.*3770G>A)
c.12666G>A (p.Pro4222=)
c.12699G>A (p.Pro4233=)
c.4855G>A
c.12678G>A (p.Pro4226=)
c.2731G>A
c.12630G>A (p.Pro4210=)
n.3873G>A
c.12732G>A (p.Pro4244=)
c.12729G>A (p.Pro4243=)
c.12708G>A (p.Pro4236=)
c.12702G>A (p.Pro4234=)
c.12696G>A (p.Pro4232=)
c.12672G>A (p.Pro4224=)
c.12495G>A (p.Pro4165=)
c.12639G>A (p.Pro4213=)
c.12711G>A (p.Pro4237=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.237784390G>CCA424032176RYR2c.*3770G>C (n.*3770G>C)
c.12666G>C (p.Pro4222=)
c.12699G>C (p.Pro4233=)
c.4855G>C
c.12678G>C (p.Pro4226=)
c.2731G>C
c.12630G>C (p.Pro4210=)
n.3873G>C
c.12732G>C (p.Pro4244=)
c.12729G>C (p.Pro4243=)
c.12708G>C (p.Pro4236=)
c.12702G>C (p.Pro4234=)
c.12696G>C (p.Pro4232=)
c.12672G>C (p.Pro4224=)
c.12495G>C (p.Pro4165=)
c.12639G>C (p.Pro4213=)
c.12711G>C (p.Pro4237=)
1g.237784390G=CA2487482500RYR2c.*3770G= (n.*3770G=)
c.12666G= (p.Pro4222=)
c.12699G= (p.Pro4233=)
c.4855G=
c.12678G= (p.Pro4226=)
c.2731G=
c.12630G= (p.Pro4210=)
n.3873G=
c.12732G= (p.Pro4244=)
c.12729G= (p.Pro4243=)
c.12708G= (p.Pro4236=)
c.12702G= (p.Pro4234=)
c.12696G= (p.Pro4232=)
c.12672G= (p.Pro4224=)
c.12495G= (p.Pro4165=)
c.12639G= (p.Pro4213=)
c.12711G= (p.Pro4237=)
1g.237784390G>TCA424032177RYR2c.*3770G>T (n.*3770G>T)
c.12666G>T (p.Pro4222=)
c.12699G>T (p.Pro4233=)
c.4855G>T
c.12678G>T (p.Pro4226=)
c.2731G>T
c.12630G>T (p.Pro4210=)
n.3873G>T
c.12732G>T (p.Pro4244=)
c.12729G>T (p.Pro4243=)
c.12708G>T (p.Pro4236=)
c.12702G>T (p.Pro4234=)
c.12696G>T (p.Pro4232=)
c.12672G>T (p.Pro4224=)
c.12495G>T (p.Pro4165=)
c.12639G>T (p.Pro4213=)
c.12711G>T (p.Pro4237=)
 ClinVar dbSNP
1g.237784391G>ACA345413898RYR2c.*3771G>A (n.*3771G>A)
c.12667G>A (p.Glu4223Lys)
c.12700G>A (p.Glu4234Lys)
c.4856G>A
c.12679G>A (p.Glu4227Lys)
c.2732G>A
c.12631G>A (p.Glu4211Lys)
n.3874G>A
c.12733G>A (p.Glu4245Lys)
c.12730G>A (p.Glu4244Lys)
c.12709G>A (p.Glu4237Lys)
c.12703G>A (p.Glu4235Lys)
c.12697G>A (p.Glu4233Lys)
c.12673G>A (p.Glu4225Lys)
c.12496G>A (p.Glu4166Lys)
c.12640G>A (p.Glu4214Lys)
c.12712G>A (p.Glu4238Lys)
 ClinVar dbSNP
1g.237784391G>CCA345413899RYR2c.*3771G>C (n.*3771G>C)
c.12667G>C (p.Glu4223Gln)
c.12700G>C (p.Glu4234Gln)
c.4856G>C
c.12679G>C (p.Glu4227Gln)
c.2732G>C
c.12631G>C (p.Glu4211Gln)
n.3874G>C
c.12733G>C (p.Glu4245Gln)
c.12730G>C (p.Glu4244Gln)
c.12709G>C (p.Glu4237Gln)
c.12703G>C (p.Glu4235Gln)
c.12697G>C (p.Glu4233Gln)
c.12673G>C (p.Glu4225Gln)
c.12496G>C (p.Glu4166Gln)
c.12640G>C (p.Glu4214Gln)
c.12712G>C (p.Glu4238Gln)
1g.237784391G>TCA345413900RYR2c.*3771G>T (n.*3771G>T)
c.12667G>T (p.Glu4223Ter)
c.12700G>T (p.Glu4234Ter)
c.4856G>T
c.12679G>T (p.Glu4227Ter)
c.2732G>T
c.12631G>T (p.Glu4211Ter)
n.3874G>T
c.12733G>T (p.Glu4245Ter)
c.12730G>T (p.Glu4244Ter)
c.12709G>T (p.Glu4237Ter)
c.12703G>T (p.Glu4235Ter)
c.12697G>T (p.Glu4233Ter)
c.12673G>T (p.Glu4225Ter)
c.12496G>T (p.Glu4166Ter)
c.12640G>T (p.Glu4214Ter)
c.12712G>T (p.Glu4238Ter)
1g.237784392A>CCA345413903RYR2c.*3772A>C (n.*3772A>C)
c.12668A>C (p.Glu4223Ala)
c.12701A>C (p.Glu4234Ala)
c.4857A>C
c.12680A>C (p.Glu4227Ala)
c.2733A>C
c.12632A>C (p.Glu4211Ala)
n.3875A>C
c.12734A>C (p.Glu4245Ala)
c.12731A>C (p.Glu4244Ala)
c.12710A>C (p.Glu4237Ala)
c.12704A>C (p.Glu4235Ala)
c.12698A>C (p.Glu4233Ala)
c.12674A>C (p.Glu4225Ala)
c.12497A>C (p.Glu4166Ala)
c.12641A>C (p.Glu4214Ala)
c.12713A>C (p.Glu4238Ala)
1g.237784392A>GCA345413902RYR2c.*3772A>G (n.*3772A>G)
c.12668A>G (p.Glu4223Gly)
c.12701A>G (p.Glu4234Gly)
c.4857A>G
c.12680A>G (p.Glu4227Gly)
c.2733A>G
c.12632A>G (p.Glu4211Gly)
n.3875A>G
c.12734A>G (p.Glu4245Gly)
c.12731A>G (p.Glu4244Gly)
c.12710A>G (p.Glu4237Gly)
c.12704A>G (p.Glu4235Gly)
c.12698A>G (p.Glu4233Gly)
c.12674A>G (p.Glu4225Gly)
c.12497A>G (p.Glu4166Gly)
c.12641A>G (p.Glu4214Gly)
c.12713A>G (p.Glu4238Gly)
1g.237784392A>TCA345413901RYR2c.*3772A>T (n.*3772A>T)
c.12668A>T (p.Glu4223Val)
c.12701A>T (p.Glu4234Val)
c.4857A>T
c.12680A>T (p.Glu4227Val)
c.2733A>T
c.12632A>T (p.Glu4211Val)
n.3875A>T
c.12734A>T (p.Glu4245Val)
c.12731A>T (p.Glu4244Val)
c.12710A>T (p.Glu4237Val)
c.12704A>T (p.Glu4235Val)
c.12698A>T (p.Glu4233Val)
c.12674A>T (p.Glu4225Val)
c.12497A>T (p.Glu4166Val)
c.12641A>T (p.Glu4214Val)
c.12713A>T (p.Glu4238Val)
1g.237784393A>CCA345413904RYR2c.*3773A>C (n.*3773A>C)
c.12669A>C (p.Glu4223Asp)
c.12702A>C (p.Glu4234Asp)
c.4858A>C
c.12681A>C (p.Glu4227Asp)
c.2734A>C
c.12633A>C (p.Glu4211Asp)
n.3876A>C
c.12735A>C (p.Glu4245Asp)
c.12732A>C (p.Glu4244Asp)
c.12711A>C (p.Glu4237Asp)
c.12705A>C (p.Glu4235Asp)
c.12699A>C (p.Glu4233Asp)
c.12675A>C (p.Glu4225Asp)
c.12498A>C (p.Glu4166Asp)
c.12642A>C (p.Glu4214Asp)
c.12714A>C (p.Glu4238Asp)
1g.237784393A>GCA424032183RYR2c.*3773A>G (n.*3773A>G)
c.12669A>G (p.Glu4223=)
c.12702A>G (p.Glu4234=)
c.4858A>G
c.12681A>G (p.Glu4227=)
c.2734A>G
c.12633A>G (p.Glu4211=)
n.3876A>G
c.12735A>G (p.Glu4245=)
c.12732A>G (p.Glu4244=)
c.12711A>G (p.Glu4237=)
c.12705A>G (p.Glu4235=)
c.12699A>G (p.Glu4233=)
c.12675A>G (p.Glu4225=)
c.12498A>G (p.Glu4166=)
c.12642A>G (p.Glu4214=)
c.12714A>G (p.Glu4238=)
1g.237784393A>TCA345413905RYR2c.*3773A>T (n.*3773A>T)
c.12669A>T (p.Glu4223Asp)
c.12702A>T (p.Glu4234Asp)
c.4858A>T
c.12681A>T (p.Glu4227Asp)
c.2734A>T
c.12633A>T (p.Glu4211Asp)
n.3876A>T
c.12735A>T (p.Glu4245Asp)
c.12732A>T (p.Glu4244Asp)
c.12711A>T (p.Glu4237Asp)
c.12705A>T (p.Glu4235Asp)
c.12699A>T (p.Glu4233Asp)
c.12675A>T (p.Glu4225Asp)
c.12498A>T (p.Glu4166Asp)
c.12642A>T (p.Glu4214Asp)
c.12714A>T (p.Glu4238Asp)
1g.237784394G>ACA345413906RYR2c.*3774G>A (n.*3774G>A)
c.12670G>A (p.Glu4224Lys)
c.12703G>A (p.Glu4235Lys)
c.4859G>A
c.12682G>A (p.Glu4228Lys)
c.2735G>A
c.12634G>A (p.Glu4212Lys)
n.3877G>A
c.12736G>A (p.Glu4246Lys)
c.12733G>A (p.Glu4245Lys)
c.12712G>A (p.Glu4238Lys)
c.12706G>A (p.Glu4236Lys)
c.12700G>A (p.Glu4234Lys)
c.12676G>A (p.Glu4226Lys)
c.12499G>A (p.Glu4167Lys)
c.12643G>A (p.Glu4215Lys)
c.12715G>A (p.Glu4239Lys)
 ClinVar COSMIC COSMIC
1g.237784394G>CCA345413907RYR2c.*3774G>C (n.*3774G>C)
c.12670G>C (p.Glu4224Gln)
c.12703G>C (p.Glu4235Gln)
c.4859G>C
c.12682G>C (p.Glu4228Gln)
c.2735G>C
c.12634G>C (p.Glu4212Gln)
n.3877G>C
c.12736G>C (p.Glu4246Gln)
c.12733G>C (p.Glu4245Gln)
c.12712G>C (p.Glu4238Gln)
c.12706G>C (p.Glu4236Gln)
c.12700G>C (p.Glu4234Gln)
c.12676G>C (p.Glu4226Gln)
c.12499G>C (p.Glu4167Gln)
c.12643G>C (p.Glu4215Gln)
c.12715G>C (p.Glu4239Gln)
1g.237784394G>TCA345413908RYR2c.*3774G>T (n.*3774G>T)
c.12670G>T (p.Glu4224Ter)
c.12703G>T (p.Glu4235Ter)
c.4859G>T
c.12682G>T (p.Glu4228Ter)
c.2735G>T
c.12634G>T (p.Glu4212Ter)
n.3877G>T
c.12736G>T (p.Glu4246Ter)
c.12733G>T (p.Glu4245Ter)
c.12712G>T (p.Glu4238Ter)
c.12706G>T (p.Glu4236Ter)
c.12700G>T (p.Glu4234Ter)
c.12676G>T (p.Glu4226Ter)
c.12499G>T (p.Glu4167Ter)
c.12643G>T (p.Glu4215Ter)
c.12715G>T (p.Glu4239Ter)
1g.237784395A>CCA345413909RYR2c.*3775A>C (n.*3775A>C)
c.12671A>C (p.Glu4224Ala)
c.12704A>C (p.Glu4235Ala)
c.4860A>C
c.12683A>C (p.Glu4228Ala)
c.2736A>C
c.12635A>C (p.Glu4212Ala)
n.3878A>C
c.12737A>C (p.Glu4246Ala)
c.12734A>C (p.Glu4245Ala)
c.12713A>C (p.Glu4238Ala)
c.12707A>C (p.Glu4236Ala)
c.12701A>C (p.Glu4234Ala)
c.12677A>C (p.Glu4226Ala)
c.12500A>C (p.Glu4167Ala)
c.12644A>C (p.Glu4215Ala)
c.12716A>C (p.Glu4239Ala)
1g.237784395A>GCA345413910RYR2c.*3775A>G (n.*3775A>G)
c.12671A>G (p.Glu4224Gly)
c.12704A>G (p.Glu4235Gly)
c.4860A>G
c.12683A>G (p.Glu4228Gly)
c.2736A>G
c.12635A>G (p.Glu4212Gly)
n.3878A>G
c.12737A>G (p.Glu4246Gly)
c.12734A>G (p.Glu4245Gly)
c.12713A>G (p.Glu4238Gly)
c.12707A>G (p.Glu4236Gly)
c.12701A>G (p.Glu4234Gly)
c.12677A>G (p.Glu4226Gly)
c.12500A>G (p.Glu4167Gly)
c.12644A>G (p.Glu4215Gly)
c.12716A>G (p.Glu4239Gly)
1g.237784395A>TCA345413911RYR2c.*3775A>T (n.*3775A>T)
c.12671A>T (p.Glu4224Val)
c.12704A>T (p.Glu4235Val)
c.4860A>T
c.12683A>T (p.Glu4228Val)
c.2736A>T
c.12635A>T (p.Glu4212Val)
n.3878A>T
c.12737A>T (p.Glu4246Val)
c.12734A>T (p.Glu4245Val)
c.12713A>T (p.Glu4238Val)
c.12707A>T (p.Glu4236Val)
c.12701A>T (p.Glu4234Val)
c.12677A>T (p.Glu4226Val)
c.12500A>T (p.Glu4167Val)
c.12644A>T (p.Glu4215Val)
c.12716A>T (p.Glu4239Val)
1g.237784396G>ACA424032190RYR2c.*3776G>A (n.*3776G>A)
c.12672G>A (p.Glu4224=)
c.12705G>A (p.Glu4235=)
c.4861G>A
c.12684G>A (p.Glu4228=)
c.2737G>A
c.12636G>A (p.Glu4212=)
n.3879G>A
c.12738G>A (p.Glu4246=)
c.12735G>A (p.Glu4245=)
c.12714G>A (p.Glu4238=)
c.12708G>A (p.Glu4236=)
c.12702G>A (p.Glu4234=)
c.12678G>A (p.Glu4226=)
c.12501G>A (p.Glu4167=)
c.12645G>A (p.Glu4215=)
c.12717G>A (p.Glu4239=)
1g.237784396G>CCA345413912RYR2c.*3776G>C (n.*3776G>C)
c.12672G>C (p.Glu4224Asp)
c.12705G>C (p.Glu4235Asp)
c.4861G>C
c.12684G>C (p.Glu4228Asp)
c.2737G>C
c.12636G>C (p.Glu4212Asp)
n.3879G>C
c.12738G>C (p.Glu4246Asp)
c.12735G>C (p.Glu4245Asp)
c.12714G>C (p.Glu4238Asp)
c.12708G>C (p.Glu4236Asp)
c.12702G>C (p.Glu4234Asp)
c.12678G>C (p.Glu4226Asp)
c.12501G>C (p.Glu4167Asp)
c.12645G>C (p.Glu4215Asp)
c.12717G>C (p.Glu4239Asp)
1g.237784396G=CA2487482501RYR2c.*3776G= (n.*3776G=)
c.12672G= (p.Glu4224=)
c.12705G= (p.Glu4235=)
c.4861G=
c.12684G= (p.Glu4228=)
c.2737G=
c.12636G= (p.Glu4212=)
n.3879G=
c.12738G= (p.Glu4246=)
c.12735G= (p.Glu4245=)
c.12714G= (p.Glu4238=)
c.12708G= (p.Glu4236=)
c.12702G= (p.Glu4234=)
c.12678G= (p.Glu4226=)
c.12501G= (p.Glu4167=)
c.12645G= (p.Glu4215=)
c.12717G= (p.Glu4239=)
1g.237784396G>TCA085218RYR2c.*3776G>T (n.*3776G>T)
c.12672G>T (p.Glu4224Asp)
c.12705G>T (p.Glu4235Asp)
c.4861G>T
c.12684G>T (p.Glu4228Asp)
c.2737G>T
c.12636G>T (p.Glu4212Asp)
n.3879G>T
c.12738G>T (p.Glu4246Asp)
c.12735G>T (p.Glu4245Asp)
c.12714G>T (p.Glu4238Asp)
c.12708G>T (p.Glu4236Asp)
c.12702G>T (p.Glu4234Asp)
c.12678G>T (p.Glu4226Asp)
c.12501G>T (p.Glu4167Asp)
c.12645G>T (p.Glu4215Asp)
c.12717G>T (p.Glu4239Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.237784397C>ACA345413913RYR2c.*3777C>A (n.*3777C>A)
c.12673C>A (p.Gln4225Lys)
c.12706C>A (p.Gln4236Lys)
c.4862C>A
c.12685C>A (p.Gln4229Lys)
c.2738C>A
c.12637C>A (p.Gln4213Lys)
n.3880C>A
c.12739C>A (p.Gln4247Lys)
c.12736C>A (p.Gln4246Lys)
c.12715C>A (p.Gln4239Lys)
c.12709C>A (p.Gln4237Lys)
c.12703C>A (p.Gln4235Lys)
c.12679C>A (p.Gln4227Lys)
c.12502C>A (p.Gln4168Lys)
c.12646C>A (p.Gln4216Lys)
c.12718C>A (p.Gln4240Lys)
1g.237784397C=CA2487482502RYR2c.*3777C= (n.*3777C=)
c.12673C= (p.Gln4225=)
c.12706C= (p.Gln4236=)
c.4862C=
c.12685C= (p.Gln4229=)
c.2738C=
c.12637C= (p.Gln4213=)
n.3880C=
c.12739C= (p.Gln4247=)
c.12736C= (p.Gln4246=)
c.12715C= (p.Gln4239=)
c.12709C= (p.Gln4237=)
c.12703C= (p.Gln4235=)
c.12679C= (p.Gln4227=)
c.12502C= (p.Gln4168=)
c.12646C= (p.Gln4216=)
c.12718C= (p.Gln4240=)
1g.237784397C>GCA345413914RYR2c.*3777C>G (n.*3777C>G)
c.12673C>G (p.Gln4225Glu)
c.12706C>G (p.Gln4236Glu)
c.4862C>G
c.12685C>G (p.Gln4229Glu)
c.2738C>G
c.12637C>G (p.Gln4213Glu)
n.3880C>G
c.12739C>G (p.Gln4247Glu)
c.12736C>G (p.Gln4246Glu)
c.12715C>G (p.Gln4239Glu)
c.12709C>G (p.Gln4237Glu)
c.12703C>G (p.Gln4235Glu)
c.12679C>G (p.Gln4227Glu)
c.12502C>G (p.Gln4168Glu)
c.12646C>G (p.Gln4216Glu)
c.12718C>G (p.Gln4240Glu)
1g.237784397C>TCA345413915RYR2c.*3777C>T (n.*3777C>T)
c.12673C>T (p.Gln4225Ter)
c.12706C>T (p.Gln4236Ter)
c.4862C>T
c.12685C>T (p.Gln4229Ter)
c.2738C>T
c.12637C>T (p.Gln4213Ter)
n.3880C>T
c.12739C>T (p.Gln4247Ter)
c.12736C>T (p.Gln4246Ter)
c.12715C>T (p.Gln4239Ter)
c.12709C>T (p.Gln4237Ter)
c.12703C>T (p.Gln4235Ter)
c.12679C>T (p.Gln4227Ter)
c.12502C>T (p.Gln4168Ter)
c.12646C>T (p.Gln4216Ter)
c.12718C>T (p.Gln4240Ter)
 ClinVar dbSNP
1g.237784398A>CCA345413917RYR2c.*3778A>C (n.*3778A>C)
c.12674A>C (p.Gln4225Pro)
c.12707A>C (p.Gln4236Pro)
c.4863A>C
c.12686A>C (p.Gln4229Pro)
c.2739A>C
c.12638A>C (p.Gln4213Pro)
n.3881A>C
c.12740A>C (p.Gln4247Pro)
c.12737A>C (p.Gln4246Pro)
c.12716A>C (p.Gln4239Pro)
c.12710A>C (p.Gln4237Pro)
c.12704A>C (p.Gln4235Pro)
c.12680A>C (p.Gln4227Pro)
c.12503A>C (p.Gln4168Pro)
c.12647A>C (p.Gln4216Pro)
c.12719A>C (p.Gln4240Pro)
1g.237784398A>GCA345413918RYR2c.*3778A>G (n.*3778A>G)
c.12674A>G (p.Gln4225Arg)
c.12707A>G (p.Gln4236Arg)
c.4863A>G
c.12686A>G (p.Gln4229Arg)
c.2739A>G
c.12638A>G (p.Gln4213Arg)
n.3881A>G
c.12740A>G (p.Gln4247Arg)
c.12737A>G (p.Gln4246Arg)
c.12716A>G (p.Gln4239Arg)
c.12710A>G (p.Gln4237Arg)
c.12704A>G (p.Gln4235Arg)
c.12680A>G (p.Gln4227Arg)
c.12503A>G (p.Gln4168Arg)
c.12647A>G (p.Gln4216Arg)
c.12719A>G (p.Gln4240Arg)
1g.237784398A>TCA345413916RYR2c.*3778A>T (n.*3778A>T)
c.12674A>T (p.Gln4225Leu)
c.12707A>T (p.Gln4236Leu)
c.4863A>T
c.12686A>T (p.Gln4229Leu)
c.2739A>T
c.12638A>T (p.Gln4213Leu)
n.3881A>T
c.12740A>T (p.Gln4247Leu)
c.12737A>T (p.Gln4246Leu)
c.12716A>T (p.Gln4239Leu)
c.12710A>T (p.Gln4237Leu)
c.12704A>T (p.Gln4235Leu)
c.12680A>T (p.Gln4227Leu)
c.12503A>T (p.Gln4168Leu)
c.12647A>T (p.Gln4216Leu)
c.12719A>T (p.Gln4240Leu)
1g.237784399G>ACA424032192RYR2c.*3779G>A (n.*3779G>A)
c.12675G>A (p.Gln4225=)
c.12708G>A (p.Gln4236=)
c.4864G>A
c.12687G>A (p.Gln4229=)
c.2740G>A
c.12639G>A (p.Gln4213=)
n.3882G>A
c.12741G>A (p.Gln4247=)
c.12738G>A (p.Gln4246=)
c.12717G>A (p.Gln4239=)
c.12711G>A (p.Gln4237=)
c.12705G>A (p.Gln4235=)
c.12681G>A (p.Gln4227=)
c.12504G>A (p.Gln4168=)
c.12648G>A (p.Gln4216=)
c.12720G>A (p.Gln4240=)
 dbSNP gnomAD v4
1g.237784399G>CCA345413919RYR2c.*3779G>C (n.*3779G>C)
c.12675G>C (p.Gln4225His)
c.12708G>C (p.Gln4236His)
c.4864G>C
c.12687G>C (p.Gln4229His)
c.2740G>C
c.12639G>C (p.Gln4213His)
n.3882G>C
c.12741G>C (p.Gln4247His)
c.12738G>C (p.Gln4246His)
c.12717G>C (p.Gln4239His)
c.12711G>C (p.Gln4237His)
c.12705G>C (p.Gln4235His)
c.12681G>C (p.Gln4227His)
c.12504G>C (p.Gln4168His)
c.12648G>C (p.Gln4216His)
c.12720G>C (p.Gln4240His)
1g.237784399G=CA2487482503RYR2c.*3779G= (n.*3779G=)
c.12675G= (p.Gln4225=)
c.12708G= (p.Gln4236=)
c.4864G=
c.12687G= (p.Gln4229=)
c.2740G=
c.12639G= (p.Gln4213=)
n.3882G=
c.12741G= (p.Gln4247=)
c.12738G= (p.Gln4246=)
c.12717G= (p.Gln4239=)
c.12711G= (p.Gln4237=)
c.12705G= (p.Gln4235=)
c.12681G= (p.Gln4227=)
c.12504G= (p.Gln4168=)
c.12648G= (p.Gln4216=)
c.12720G= (p.Gln4240=)
1g.237784399G>TCA345413920RYR2c.*3779G>T (n.*3779G>T)
c.12675G>T (p.Gln4225His)
c.12708G>T (p.Gln4236His)
c.4864G>T
c.12687G>T (p.Gln4229His)
c.2740G>T
c.12639G>T (p.Gln4213His)
n.3882G>T
c.12741G>T (p.Gln4247His)
c.12738G>T (p.Gln4246His)
c.12717G>T (p.Gln4239His)
c.12711G>T (p.Gln4237His)
c.12705G>T (p.Gln4235His)
c.12681G>T (p.Gln4227His)
c.12504G>T (p.Gln4168His)
c.12648G>T (p.Gln4216His)
c.12720G>T (p.Gln4240His)
1g.237784400G>ACA345413921RYR2c.*3780G>A (n.*3780G>A)
c.12676G>A (p.Gly4226Arg)
c.12709G>A (p.Gly4237Arg)
c.4865G>A
c.12688G>A (p.Gly4230Arg)
c.2741G>A
c.12640G>A (p.Gly4214Arg)
n.3883G>A
c.12742G>A (p.Gly4248Arg)
c.12739G>A (p.Gly4247Arg)
c.12718G>A (p.Gly4240Arg)
c.12712G>A (p.Gly4238Arg)
c.12706G>A (p.Gly4236Arg)
c.12682G>A (p.Gly4228Arg)
c.12505G>A (p.Gly4169Arg)
c.12649G>A (p.Gly4217Arg)
c.12721G>A (p.Gly4241Arg)
 COSMIC COSMIC
1g.237784400G>CCA345413922RYR2c.*3780G>C (n.*3780G>C)
c.12676G>C (p.Gly4226Arg)
c.12709G>C (p.Gly4237Arg)
c.4865G>C
c.12688G>C (p.Gly4230Arg)
c.2741G>C
c.12640G>C (p.Gly4214Arg)
n.3883G>C
c.12742G>C (p.Gly4248Arg)
c.12739G>C (p.Gly4247Arg)
c.12718G>C (p.Gly4240Arg)
c.12712G>C (p.Gly4238Arg)
c.12706G>C (p.Gly4236Arg)
c.12682G>C (p.Gly4228Arg)
c.12505G>C (p.Gly4169Arg)
c.12649G>C (p.Gly4217Arg)
c.12721G>C (p.Gly4241Arg)
 COSMIC
1g.237784400G>TCA345413923RYR2c.*3780G>T (n.*3780G>T)
c.12676G>T (p.Gly4226Trp)
c.12709G>T (p.Gly4237Trp)
c.4865G>T
c.12688G>T (p.Gly4230Trp)
c.2741G>T
c.12640G>T (p.Gly4214Trp)
n.3883G>T
c.12742G>T (p.Gly4248Trp)
c.12739G>T (p.Gly4247Trp)
c.12718G>T (p.Gly4240Trp)
c.12712G>T (p.Gly4238Trp)
c.12706G>T (p.Gly4236Trp)
c.12682G>T (p.Gly4228Trp)
c.12505G>T (p.Gly4169Trp)
c.12649G>T (p.Gly4217Trp)
c.12721G>T (p.Gly4241Trp)
1g.237784401G>ACA345413924RYR2c.*3781G>A (n.*3781G>A)
c.12677G>A (p.Gly4226Glu)
c.12710G>A (p.Gly4237Glu)
c.4866G>A
c.12689G>A (p.Gly4230Glu)
c.2742G>A
c.12641G>A (p.Gly4214Glu)
n.3884G>A
c.12743G>A (p.Gly4248Glu)
c.12740G>A (p.Gly4247Glu)
c.12719G>A (p.Gly4240Glu)
c.12713G>A (p.Gly4238Glu)
c.12707G>A (p.Gly4236Glu)
c.12683G>A (p.Gly4228Glu)
c.12506G>A (p.Gly4169Glu)
c.12650G>A (p.Gly4217Glu)
c.12722G>A (p.Gly4241Glu)
1g.237784401G>CCA345413925RYR2c.*3781G>C (n.*3781G>C)
c.12677G>C (p.Gly4226Ala)
c.12710G>C (p.Gly4237Ala)
c.4866G>C
c.12689G>C (p.Gly4230Ala)
c.2742G>C
c.12641G>C (p.Gly4214Ala)
n.3884G>C
c.12743G>C (p.Gly4248Ala)
c.12740G>C (p.Gly4247Ala)
c.12719G>C (p.Gly4240Ala)
c.12713G>C (p.Gly4238Ala)
c.12707G>C (p.Gly4236Ala)
c.12683G>C (p.Gly4228Ala)
c.12506G>C (p.Gly4169Ala)
c.12650G>C (p.Gly4217Ala)
c.12722G>C (p.Gly4241Ala)
1g.237784401G>TCA345413926RYR2c.*3781G>T (n.*3781G>T)
c.12677G>T (p.Gly4226Val)
c.12710G>T (p.Gly4237Val)
c.4866G>T
c.12689G>T (p.Gly4230Val)
c.2742G>T
c.12641G>T (p.Gly4214Val)
n.3884G>T
c.12743G>T (p.Gly4248Val)
c.12740G>T (p.Gly4247Val)
c.12719G>T (p.Gly4240Val)
c.12713G>T (p.Gly4238Val)
c.12707G>T (p.Gly4236Val)
c.12683G>T (p.Gly4228Val)
c.12506G>T (p.Gly4169Val)
c.12650G>T (p.Gly4217Val)
c.12722G>T (p.Gly4241Val)
1g.237784402G>ACA424032195RYR2c.*3782G>A (n.*3782G>A)
c.12678G>A (p.Gly4226=)
c.12711G>A (p.Gly4237=)
c.4867G>A
c.12690G>A (p.Gly4230=)
c.2743G>A
c.12642G>A (p.Gly4214=)
n.3885G>A
c.12744G>A (p.Gly4248=)
c.12741G>A (p.Gly4247=)
c.12720G>A (p.Gly4240=)
c.12714G>A (p.Gly4238=)
c.12708G>A (p.Gly4236=)
c.12684G>A (p.Gly4228=)
c.12507G>A (p.Gly4169=)
c.12651G>A (p.Gly4217=)
c.12723G>A (p.Gly4241=)
 dbSNP
1g.237784402G>CCA424032196RYR2c.*3782G>C (n.*3782G>C)
c.12678G>C (p.Gly4226=)
c.12711G>C (p.Gly4237=)
c.4867G>C
c.12690G>C (p.Gly4230=)
c.2743G>C
c.12642G>C (p.Gly4214=)
n.3885G>C
c.12744G>C (p.Gly4248=)
c.12741G>C (p.Gly4247=)
c.12720G>C (p.Gly4240=)
c.12714G>C (p.Gly4238=)
c.12708G>C (p.Gly4236=)
c.12684G>C (p.Gly4228=)
c.12507G>C (p.Gly4169=)
c.12651G>C (p.Gly4217=)
c.12723G>C (p.Gly4241=)
 dbSNP
1g.237784402G=CA2487482504RYR2c.*3782G= (n.*3782G=)
c.12678G= (p.Gly4226=)
c.12711G= (p.Gly4237=)
c.4867G=
c.12690G= (p.Gly4230=)
c.2743G=
c.12642G= (p.Gly4214=)
n.3885G=
c.12744G= (p.Gly4248=)
c.12741G= (p.Gly4247=)
c.12720G= (p.Gly4240=)
c.12714G= (p.Gly4238=)
c.12708G= (p.Gly4236=)
c.12684G= (p.Gly4228=)
c.12507G= (p.Gly4169=)
c.12651G= (p.Gly4217=)
c.12723G= (p.Gly4241=)
1g.237784402G>TCA424032198RYR2c.*3782G>T (n.*3782G>T)
c.12678G>T (p.Gly4226=)
c.12711G>T (p.Gly4237=)
c.4867G>T
c.12690G>T (p.Gly4230=)
c.2743G>T
c.12642G>T (p.Gly4214=)
n.3885G>T
c.12744G>T (p.Gly4248=)
c.12741G>T (p.Gly4247=)
c.12720G>T (p.Gly4240=)
c.12714G>T (p.Gly4238=)
c.12708G>T (p.Gly4236=)
c.12684G>T (p.Gly4228=)
c.12507G>T (p.Gly4169=)
c.12651G>T (p.Gly4217=)
c.12723G>T (p.Gly4241=)
1g.237784403C>ACA345413927RYR2c.*3783C>A (n.*3783C>A)
c.12679C>A (p.Pro4227Thr)
c.12712C>A (p.Pro4238Thr)
c.4868C>A
c.12691C>A (p.Pro4231Thr)
c.2744C>A
c.12643C>A (p.Pro4215Thr)
n.3886C>A
c.12745C>A (p.Pro4249Thr)
c.12742C>A (p.Pro4248Thr)
c.12721C>A (p.Pro4241Thr)
c.12715C>A (p.Pro4239Thr)
c.12709C>A (p.Pro4237Thr)
c.12685C>A (p.Pro4229Thr)
c.12508C>A (p.Pro4170Thr)
c.12652C>A (p.Pro4218Thr)
c.12724C>A (p.Pro4242Thr)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.237784403C=CA2487482505RYR2c.*3783C= (n.*3783C=)
c.12679C= (p.Pro4227=)
c.12712C= (p.Pro4238=)
c.4868C=
c.12691C= (p.Pro4231=)
c.2744C=
c.12643C= (p.Pro4215=)
n.3886C=
c.12745C= (p.Pro4249=)
c.12742C= (p.Pro4248=)
c.12721C= (p.Pro4241=)
c.12715C= (p.Pro4239=)
c.12709C= (p.Pro4237=)
c.12685C= (p.Pro4229=)
c.12508C= (p.Pro4170=)
c.12652C= (p.Pro4218=)
c.12724C= (p.Pro4242=)
1g.237784403C>GCA345413928RYR2c.*3783C>G (n.*3783C>G)
c.12679C>G (p.Pro4227Ala)
c.12712C>G (p.Pro4238Ala)
c.4868C>G
c.12691C>G (p.Pro4231Ala)
c.2744C>G
c.12643C>G (p.Pro4215Ala)
n.3886C>G
c.12745C>G (p.Pro4249Ala)
c.12742C>G (p.Pro4248Ala)
c.12721C>G (p.Pro4241Ala)
c.12715C>G (p.Pro4239Ala)
c.12709C>G (p.Pro4237Ala)
c.12685C>G (p.Pro4229Ala)
c.12508C>G (p.Pro4170Ala)
c.12652C>G (p.Pro4218Ala)
c.12724C>G (p.Pro4242Ala)
1g.237784403C>TCA345413929RYR2c.*3783C>T (n.*3783C>T)
c.12679C>T (p.Pro4227Ser)
c.12712C>T (p.Pro4238Ser)
c.4868C>T
c.12691C>T (p.Pro4231Ser)
c.2744C>T
c.12643C>T (p.Pro4215Ser)
n.3886C>T
c.12745C>T (p.Pro4249Ser)
c.12742C>T (p.Pro4248Ser)
c.12721C>T (p.Pro4241Ser)
c.12715C>T (p.Pro4239Ser)
c.12709C>T (p.Pro4237Ser)
c.12685C>T (p.Pro4229Ser)
c.12508C>T (p.Pro4170Ser)
c.12652C>T (p.Pro4218Ser)
c.12724C>T (p.Pro4242Ser)
1g.237784404dupCA2697547749RYR2c.*3784dup (n.*3784dup)
c.12680dup (p.Arg4228GlufsTer?)
c.12713dup (p.Arg4239GlufsTer?)
c.4869dup
c.12692dup (p.Arg4232GlufsTer?)
c.2745dup
c.12644dup (p.Arg4216GlufsTer?)
n.3887dup
c.12746dup (p.Arg4250GlufsTer?)
c.12743dup (p.Arg4249GlufsTer?)
c.12722dup (p.Arg4242GlufsTer?)
c.12716dup (p.Arg4240GlufsTer?)
c.12710dup (p.Arg4238GlufsTer?)
c.12686dup (p.Arg4230GlufsTer?)
c.12509dup (p.Arg4171GlufsTer?)
c.12653dup (p.Arg4219GlufsTer?)
c.12725dup (p.Arg4243GlufsTer?)
 ClinVar
1g.237784404C>ACA345413932RYR2c.*3784C>A (n.*3784C>A)
c.12680C>A (p.Pro4227Gln)
c.12713C>A (p.Pro4238Gln)
c.4869C>A
c.12692C>A (p.Pro4231Gln)
c.2745C>A
c.12644C>A (p.Pro4215Gln)
n.3887C>A
c.12746C>A (p.Pro4249Gln)
c.12743C>A (p.Pro4248Gln)
c.12722C>A (p.Pro4241Gln)
c.12716C>A (p.Pro4239Gln)
c.12710C>A (p.Pro4237Gln)
c.12686C>A (p.Pro4229Gln)
c.12509C>A (p.Pro4170Gln)
c.12653C>A (p.Pro4218Gln)
c.12725C>A (p.Pro4242Gln)
 ClinVar dbSNP gnomAD v4
1g.237784404C=CA2487482506RYR2c.*3784C= (n.*3784C=)
c.12680C= (p.Pro4227=)
c.12713C= (p.Pro4238=)
c.4869C=
c.12692C= (p.Pro4231=)
c.2745C=
c.12644C= (p.Pro4215=)
n.3887C=
c.12746C= (p.Pro4249=)
c.12743C= (p.Pro4248=)
c.12722C= (p.Pro4241=)
c.12716C= (p.Pro4239=)
c.12710C= (p.Pro4237=)
c.12686C= (p.Pro4229=)
c.12509C= (p.Pro4170=)
c.12653C= (p.Pro4218=)
c.12725C= (p.Pro4242=)
1g.237784404C>GCA345413930RYR2c.*3784C>G (n.*3784C>G)
c.12680C>G (p.Pro4227Arg)
c.12713C>G (p.Pro4238Arg)
c.4869C>G
c.12692C>G (p.Pro4231Arg)
c.2745C>G
c.12644C>G (p.Pro4215Arg)
n.3887C>G
c.12746C>G (p.Pro4249Arg)
c.12743C>G (p.Pro4248Arg)
c.12722C>G (p.Pro4241Arg)
c.12716C>G (p.Pro4239Arg)
c.12710C>G (p.Pro4237Arg)
c.12686C>G (p.Pro4229Arg)
c.12509C>G (p.Pro4170Arg)
c.12653C>G (p.Pro4218Arg)
c.12725C>G (p.Pro4242Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.237784404C>TCA345413931RYR2c.*3784C>T (n.*3784C>T)
c.12680C>T (p.Pro4227Leu)
c.12713C>T (p.Pro4238Leu)
c.4869C>T
c.12692C>T (p.Pro4231Leu)
c.2745C>T
c.12644C>T (p.Pro4215Leu)
n.3887C>T
c.12746C>T (p.Pro4249Leu)
c.12743C>T (p.Pro4248Leu)
c.12722C>T (p.Pro4241Leu)
c.12716C>T (p.Pro4239Leu)
c.12710C>T (p.Pro4237Leu)
c.12686C>T (p.Pro4229Leu)
c.12509C>T (p.Pro4170Leu)
c.12653C>T (p.Pro4218Leu)
c.12725C>T (p.Pro4242Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.237784405G>ACA066550RYR2c.*3785G>A (n.*3785G>A)
c.12681G>A (p.Pro4227=)
c.12714G>A (p.Pro4238=)
c.4870G>A
c.12693G>A (p.Pro4231=)
c.2746G>A
c.12645G>A (p.Pro4215=)
n.3888G>A
c.12747G>A (p.Pro4249=)
c.12744G>A (p.Pro4248=)
c.12723G>A (p.Pro4241=)
c.12717G>A (p.Pro4239=)
c.12711G>A (p.Pro4237=)
c.12687G>A (p.Pro4229=)
c.12510G>A (p.Pro4170=)
c.12654G>A (p.Pro4218=)
c.12726G>A (p.Pro4242=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237784405G>CCA066553RYR2c.*3785G>C (n.*3785G>C)
c.12681G>C (p.Pro4227=)
c.12714G>C (p.Pro4238=)
c.4870G>C
c.12693G>C (p.Pro4231=)
c.2746G>C
c.12645G>C (p.Pro4215=)
n.3888G>C
c.12747G>C (p.Pro4249=)
c.12744G>C (p.Pro4248=)
c.12723G>C (p.Pro4241=)
c.12717G>C (p.Pro4239=)
c.12711G>C (p.Pro4237=)
c.12687G>C (p.Pro4229=)
c.12510G>C (p.Pro4170=)
c.12654G>C (p.Pro4218=)
c.12726G>C (p.Pro4242=)
1g.237784405G=CA1148879121RYR2c.*3785G= (n.*3785G=)
c.12681G= (p.Pro4227=)
c.12714G= (p.Pro4238=)
c.4870G=
c.12693G= (p.Pro4231=)
c.2746G=
c.12645G= (p.Pro4215=)
n.3888G=
c.12747G= (p.Pro4249=)
c.12744G= (p.Pro4248=)
c.12723G= (p.Pro4241=)
c.12717G= (p.Pro4239=)
c.12711G= (p.Pro4237=)
c.12687G= (p.Pro4229=)
c.12510G= (p.Pro4170=)
c.12654G= (p.Pro4218=)
c.12726G= (p.Pro4242=)
1g.237784405G>TCA424032202RYR2c.*3785G>T (n.*3785G>T)
c.12681G>T (p.Pro4227=)
c.12714G>T (p.Pro4238=)
c.4870G>T
c.12693G>T (p.Pro4231=)
c.2746G>T
c.12645G>T (p.Pro4215=)
n.3888G>T
c.12747G>T (p.Pro4249=)
c.12744G>T (p.Pro4248=)
c.12723G>T (p.Pro4241=)
c.12717G>T (p.Pro4239=)
c.12711G>T (p.Pro4237=)
c.12687G>T (p.Pro4229=)
c.12510G>T (p.Pro4170=)
c.12654G>T (p.Pro4218=)
c.12726G>T (p.Pro4242=)
 COSMIC COSMIC
1g.237784406A>CCA424032203RYR2c.*3786A>C (n.*3786A>C)
c.12682A>C (p.Arg4228=)
c.12715A>C (p.Arg4239=)
c.4871A>C
c.12694A>C (p.Arg4232=)
c.2747A>C
c.12646A>C (p.Arg4216=)
n.3889A>C
c.12748A>C (p.Arg4250=)
c.12745A>C (p.Arg4249=)
c.12724A>C (p.Arg4242=)
c.12718A>C (p.Arg4240=)
c.12712A>C (p.Arg4238=)
c.12688A>C (p.Arg4230=)
c.12511A>C (p.Arg4171=)
c.12655A>C (p.Arg4219=)
c.12727A>C (p.Arg4243=)
1g.237784406A>GCA345413933RYR2c.*3786A>G (n.*3786A>G)
c.12682A>G (p.Arg4228Gly)
c.12715A>G (p.Arg4239Gly)
c.4871A>G
c.12694A>G (p.Arg4232Gly)
c.2747A>G
c.12646A>G (p.Arg4216Gly)
n.3889A>G
c.12748A>G (p.Arg4250Gly)
c.12745A>G (p.Arg4249Gly)
c.12724A>G (p.Arg4242Gly)
c.12718A>G (p.Arg4240Gly)
c.12712A>G (p.Arg4238Gly)
c.12688A>G (p.Arg4230Gly)
c.12511A>G (p.Arg4171Gly)
c.12655A>G (p.Arg4219Gly)
c.12727A>G (p.Arg4243Gly)
1g.237784406A>TCA345413934RYR2c.*3786A>T (n.*3786A>T)
c.12682A>T (p.Arg4228Trp)
c.12715A>T (p.Arg4239Trp)
c.4871A>T
c.12694A>T (p.Arg4232Trp)
c.2747A>T
c.12646A>T (p.Arg4216Trp)
n.3889A>T
c.12748A>T (p.Arg4250Trp)
c.12745A>T (p.Arg4249Trp)
c.12724A>T (p.Arg4242Trp)
c.12718A>T (p.Arg4240Trp)
c.12712A>T (p.Arg4238Trp)
c.12688A>T (p.Arg4230Trp)
c.12511A>T (p.Arg4171Trp)
c.12655A>T (p.Arg4219Trp)
c.12727A>T (p.Arg4243Trp)
1g.237784407G>ACA085219RYR2c.*3787G>A (n.*3787G>A)
c.12683G>A (p.Arg4228Lys)
c.12716G>A (p.Arg4239Lys)
c.4872G>A
c.12695G>A (p.Arg4232Lys)
c.2748G>A
c.12647G>A (p.Arg4216Lys)
n.3890G>A
c.12749G>A (p.Arg4250Lys)
c.12746G>A (p.Arg4249Lys)
c.12725G>A (p.Arg4242Lys)
c.12719G>A (p.Arg4240Lys)
c.12713G>A (p.Arg4238Lys)
c.12689G>A (p.Arg4230Lys)
c.12512G>A (p.Arg4171Lys)
c.12656G>A (p.Arg4219Lys)
c.12728G>A (p.Arg4243Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.237784407G>CCA345413935RYR2c.*3787G>C (n.*3787G>C)
c.12683G>C (p.Arg4228Thr)
c.12716G>C (p.Arg4239Thr)
c.4872G>C
c.12695G>C (p.Arg4232Thr)
c.2748G>C
c.12647G>C (p.Arg4216Thr)
n.3890G>C
c.12749G>C (p.Arg4250Thr)
c.12746G>C (p.Arg4249Thr)
c.12725G>C (p.Arg4242Thr)
c.12719G>C (p.Arg4240Thr)
c.12713G>C (p.Arg4238Thr)
c.12689G>C (p.Arg4230Thr)
c.12512G>C (p.Arg4171Thr)
c.12656G>C (p.Arg4219Thr)
c.12728G>C (p.Arg4243Thr)
1g.237784407G=CA2487482507RYR2c.*3787G= (n.*3787G=)
c.12683G= (p.Arg4228=)
c.12716G= (p.Arg4239=)
c.4872G=
c.12695G= (p.Arg4232=)
c.2748G=
c.12647G= (p.Arg4216=)
n.3890G=
c.12749G= (p.Arg4250=)
c.12746G= (p.Arg4249=)
c.12725G= (p.Arg4242=)
c.12719G= (p.Arg4240=)
c.12713G= (p.Arg4238=)
c.12689G= (p.Arg4230=)
c.12512G= (p.Arg4171=)
c.12656G= (p.Arg4219=)
c.12728G= (p.Arg4243=)
1g.237784407G>TCA345413936RYR2c.*3787G>T (n.*3787G>T)
c.12683G>T (p.Arg4228Met)
c.12716G>T (p.Arg4239Met)
c.4872G>T
c.12695G>T (p.Arg4232Met)
c.2748G>T
c.12647G>T (p.Arg4216Met)
n.3890G>T
c.12749G>T (p.Arg4250Met)
c.12746G>T (p.Arg4249Met)
c.12725G>T (p.Arg4242Met)
c.12719G>T (p.Arg4240Met)
c.12713G>T (p.Arg4238Met)
c.12689G>T (p.Arg4230Met)
c.12512G>T (p.Arg4171Met)
c.12656G>T (p.Arg4219Met)
c.12728G>T (p.Arg4243Met)
1g.237784408G>ACA424032205RYR2c.*3788G>A (n.*3788G>A)
c.12684G>A (p.Arg4228=)
c.12717G>A (p.Arg4239=)
c.4873G>A
c.12696G>A (p.Arg4232=)
c.2749G>A
c.12648G>A (p.Arg4216=)
n.3891G>A
c.12750G>A (p.Arg4250=)
c.12747G>A (p.Arg4249=)
c.12726G>A (p.Arg4242=)
c.12720G>A (p.Arg4240=)
c.12714G>A (p.Arg4238=)
c.12690G>A (p.Arg4230=)
c.12513G>A (p.Arg4171=)
c.12657G>A (p.Arg4219=)
c.12729G>A (p.Arg4243=)
 dbSNP gnomAD v2 gnomAD v4
1g.237784408G>CCA345413937RYR2c.*3788G>C (n.*3788G>C)
c.12684G>C (p.Arg4228Ser)
c.12717G>C (p.Arg4239Ser)
c.4873G>C
c.12696G>C (p.Arg4232Ser)
c.2749G>C
c.12648G>C (p.Arg4216Ser)
n.3891G>C
c.12750G>C (p.Arg4250Ser)
c.12747G>C (p.Arg4249Ser)
c.12726G>C (p.Arg4242Ser)
c.12720G>C (p.Arg4240Ser)
c.12714G>C (p.Arg4238Ser)
c.12690G>C (p.Arg4230Ser)
c.12513G>C (p.Arg4171Ser)
c.12657G>C (p.Arg4219Ser)
c.12729G>C (p.Arg4243Ser)
1g.237784408G=CA2487482508RYR2c.*3788G= (n.*3788G=)
c.12684G= (p.Arg4228=)
c.12717G= (p.Arg4239=)
c.4873G=
c.12696G= (p.Arg4232=)
c.2749G=
c.12648G= (p.Arg4216=)
n.3891G=
c.12750G= (p.Arg4250=)
c.12747G= (p.Arg4249=)
c.12726G= (p.Arg4242=)
c.12720G= (p.Arg4240=)
c.12714G= (p.Arg4238=)
c.12690G= (p.Arg4230=)
c.12513G= (p.Arg4171=)
c.12657G= (p.Arg4219=)
c.12729G= (p.Arg4243=)
1g.237784408G>TCA345413938RYR2c.*3788G>T (n.*3788G>T)
c.12684G>T (p.Arg4228Ser)
c.12717G>T (p.Arg4239Ser)
c.4873G>T
c.12696G>T (p.Arg4232Ser)
c.2749G>T
c.12648G>T (p.Arg4216Ser)
n.3891G>T
c.12750G>T (p.Arg4250Ser)
c.12747G>T (p.Arg4249Ser)
c.12726G>T (p.Arg4242Ser)
c.12720G>T (p.Arg4240Ser)
c.12714G>T (p.Arg4238Ser)
c.12690G>T (p.Arg4230Ser)
c.12513G>T (p.Arg4171Ser)
c.12657G>T (p.Arg4219Ser)
c.12729G>T (p.Arg4243Ser)
1g.237784409A>CCA345413939RYR2c.*3789A>C (n.*3789A>C)
c.12685A>C (p.Met4229Leu)
c.12718A>C (p.Met4240Leu)
c.4874A>C
c.12697A>C (p.Met4233Leu)
c.2750A>C
c.12649A>C (p.Met4217Leu)
n.3892A>C
c.12751A>C (p.Met4251Leu)
c.12748A>C (p.Met4250Leu)
c.12727A>C (p.Met4243Leu)
c.12721A>C (p.Met4241Leu)
c.12715A>C (p.Met4239Leu)
c.12691A>C (p.Met4231Leu)
c.12514A>C (p.Met4172Leu)
c.12658A>C (p.Met4220Leu)
c.12730A>C (p.Met4244Leu)
1g.237784409A>GCA345413940RYR2c.*3789A>G (n.*3789A>G)
c.12685A>G (p.Met4229Val)
c.12718A>G (p.Met4240Val)
c.4874A>G
c.12697A>G (p.Met4233Val)
c.2750A>G
c.12649A>G (p.Met4217Val)
n.3892A>G
c.12751A>G (p.Met4251Val)
c.12748A>G (p.Met4250Val)
c.12727A>G (p.Met4243Val)
c.12721A>G (p.Met4241Val)
c.12715A>G (p.Met4239Val)
c.12691A>G (p.Met4231Val)
c.12514A>G (p.Met4172Val)
c.12658A>G (p.Met4220Val)
c.12730A>G (p.Met4244Val)
 ClinVar dbSNP gnomAD v4
1g.237784409A>TCA345413941RYR2c.*3789A>T (n.*3789A>T)
c.12685A>T (p.Met4229Leu)
c.12718A>T (p.Met4240Leu)
c.4874A>T
c.12697A>T (p.Met4233Leu)
c.2750A>T
c.12649A>T (p.Met4217Leu)
n.3892A>T
c.12751A>T (p.Met4251Leu)
c.12748A>T (p.Met4250Leu)
c.12727A>T (p.Met4243Leu)
c.12721A>T (p.Met4241Leu)
c.12715A>T (p.Met4239Leu)
c.12691A>T (p.Met4231Leu)
c.12514A>T (p.Met4172Leu)
c.12658A>T (p.Met4220Leu)
c.12730A>T (p.Met4244Leu)
1g.237784410T>ACA345413943RYR2c.*3790T>A (n.*3790T>A)
c.12686T>A (p.Met4229Lys)
c.12719T>A (p.Met4240Lys)
c.4875T>A
c.12698T>A (p.Met4233Lys)
c.2751T>A
c.12650T>A (p.Met4217Lys)
n.3893T>A
c.12752T>A (p.Met4251Lys)
c.12749T>A (p.Met4250Lys)
c.12728T>A (p.Met4243Lys)
c.12722T>A (p.Met4241Lys)
c.12716T>A (p.Met4239Lys)
c.12692T>A (p.Met4231Lys)
c.12515T>A (p.Met4172Lys)
c.12659T>A (p.Met4220Lys)
c.12731T>A (p.Met4244Lys)
1g.237784410T>CCA345413944RYR2c.*3790T>C (n.*3790T>C)
c.12686T>C (p.Met4229Thr)
c.12719T>C (p.Met4240Thr)
c.4875T>C
c.12698T>C (p.Met4233Thr)
c.2751T>C
c.12650T>C (p.Met4217Thr)
n.3893T>C
c.12752T>C (p.Met4251Thr)
c.12749T>C (p.Met4250Thr)
c.12728T>C (p.Met4243Thr)
c.12722T>C (p.Met4241Thr)
c.12716T>C (p.Met4239Thr)
c.12692T>C (p.Met4231Thr)
c.12515T>C (p.Met4172Thr)
c.12659T>C (p.Met4220Thr)
c.12731T>C (p.Met4244Thr)
1g.237784410T>GCA345413942RYR2c.*3790T>G (n.*3790T>G)
c.12686T>G (p.Met4229Arg)
c.12719T>G (p.Met4240Arg)
c.4875T>G
c.12698T>G (p.Met4233Arg)
c.2751T>G
c.12650T>G (p.Met4217Arg)
n.3893T>G
c.12752T>G (p.Met4251Arg)
c.12749T>G (p.Met4250Arg)
c.12728T>G (p.Met4243Arg)
c.12722T>G (p.Met4241Arg)
c.12716T>G (p.Met4239Arg)
c.12692T>G (p.Met4231Arg)
c.12515T>G (p.Met4172Arg)
c.12659T>G (p.Met4220Arg)
c.12731T>G (p.Met4244Arg)
1g.237784411G>ACA345413945RYR2c.*3791G>A (n.*3791G>A)
c.12687G>A (p.Met4229Ile)
c.12720G>A (p.Met4240Ile)
c.4876G>A
c.12699G>A (p.Met4233Ile)
c.2752G>A
c.12651G>A (p.Met4217Ile)
n.3894G>A
c.12753G>A (p.Met4251Ile)
c.12750G>A (p.Met4250Ile)
c.12729G>A (p.Met4243Ile)
c.12723G>A (p.Met4241Ile)
c.12717G>A (p.Met4239Ile)
c.12693G>A (p.Met4231Ile)
c.12516G>A (p.Met4172Ile)
c.12660G>A (p.Met4220Ile)
c.12732G>A (p.Met4244Ile)
 COSMIC COSMIC
1g.237784411G>CCA345413946RYR2c.*3791G>C (n.*3791G>C)
c.12687G>C (p.Met4229Ile)
c.12720G>C (p.Met4240Ile)
c.4876G>C
c.12699G>C (p.Met4233Ile)
c.2752G>C
c.12651G>C (p.Met4217Ile)
n.3894G>C
c.12753G>C (p.Met4251Ile)
c.12750G>C (p.Met4250Ile)
c.12729G>C (p.Met4243Ile)
c.12723G>C (p.Met4241Ile)
c.12717G>C (p.Met4239Ile)
c.12693G>C (p.Met4231Ile)
c.12516G>C (p.Met4172Ile)
c.12660G>C (p.Met4220Ile)
c.12732G>C (p.Met4244Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.237784411G=CA2487482509RYR2c.*3791G= (n.*3791G=)
c.12687G= (p.Met4229=)
c.12720G= (p.Met4240=)
c.4876G=
c.12699G= (p.Met4233=)
c.2752G=
c.12651G= (p.Met4217=)
n.3894G=
c.12753G= (p.Met4251=)
c.12750G= (p.Met4250=)
c.12729G= (p.Met4243=)
c.12723G= (p.Met4241=)
c.12717G= (p.Met4239=)
c.12693G= (p.Met4231=)
c.12516G= (p.Met4172=)
c.12660G= (p.Met4220=)
c.12732G= (p.Met4244=)
1g.237784411G>TCA345413947RYR2c.*3791G>T (n.*3791G>T)
c.12687G>T (p.Met4229Ile)
c.12720G>T (p.Met4240Ile)
c.4876G>T
c.12699G>T (p.Met4233Ile)
c.2752G>T
c.12651G>T (p.Met4217Ile)
n.3894G>T
c.12753G>T (p.Met4251Ile)
c.12750G>T (p.Met4250Ile)
c.12729G>T (p.Met4243Ile)
c.12723G>T (p.Met4241Ile)
c.12717G>T (p.Met4239Ile)
c.12693G>T (p.Met4231Ile)
c.12516G>T (p.Met4172Ile)
c.12660G>T (p.Met4220Ile)
c.12732G>T (p.Met4244Ile)
1g.237784412G>ACA007676RYR2c.*3792G>A (n.*3792G>A)
c.12688G>A (p.Ala4230Thr)
c.12721G>A (p.Ala4241Thr)
c.4877G>A
c.12700G>A (p.Ala4234Thr)
c.2753G>A
c.12652G>A (p.Ala4218Thr)
n.3895G>A
c.12754G>A (p.Ala4252Thr)
c.12751G>A (p.Ala4251Thr)
c.12730G>A (p.Ala4244Thr)
c.12724G>A (p.Ala4242Thr)
c.12718G>A (p.Ala4240Thr)
c.12694G>A (p.Ala4232Thr)
c.12517G>A (p.Ala4173Thr)
c.12661G>A (p.Ala4221Thr)
c.12733G>A (p.Ala4245Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237784412G>CCA345413948RYR2c.*3792G>C (n.*3792G>C)
c.12688G>C (p.Ala4230Pro)
c.12721G>C (p.Ala4241Pro)
c.4877G>C
c.12700G>C (p.Ala4234Pro)
c.2753G>C
c.12652G>C (p.Ala4218Pro)
n.3895G>C
c.12754G>C (p.Ala4252Pro)
c.12751G>C (p.Ala4251Pro)
c.12730G>C (p.Ala4244Pro)
c.12724G>C (p.Ala4242Pro)
c.12718G>C (p.Ala4240Pro)
c.12694G>C (p.Ala4232Pro)
c.12517G>C (p.Ala4173Pro)
c.12661G>C (p.Ala4221Pro)
c.12733G>C (p.Ala4245Pro)
1g.237784412G=CA2487482510RYR2c.*3792G= (n.*3792G=)
c.12688G= (p.Ala4230=)
c.12721G= (p.Ala4241=)
c.4877G=
c.12700G= (p.Ala4234=)
c.2753G=
c.12652G= (p.Ala4218=)
n.3895G=
c.12754G= (p.Ala4252=)
c.12751G= (p.Ala4251=)
c.12730G= (p.Ala4244=)
c.12724G= (p.Ala4242=)
c.12718G= (p.Ala4240=)
c.12694G= (p.Ala4232=)
c.12517G= (p.Ala4173=)
c.12661G= (p.Ala4221=)
c.12733G= (p.Ala4245=)
1g.237784412G>TCA345413949RYR2c.*3792G>T (n.*3792G>T)
c.12688G>T (p.Ala4230Ser)
c.12721G>T (p.Ala4241Ser)
c.4877G>T
c.12700G>T (p.Ala4234Ser)
c.2753G>T
c.12652G>T (p.Ala4218Ser)
n.3895G>T
c.12754G>T (p.Ala4252Ser)
c.12751G>T (p.Ala4251Ser)
c.12730G>T (p.Ala4244Ser)
c.12724G>T (p.Ala4242Ser)
c.12718G>T (p.Ala4240Ser)
c.12694G>T (p.Ala4232Ser)
c.12517G>T (p.Ala4173Ser)
c.12661G>T (p.Ala4221Ser)
c.12733G>T (p.Ala4245Ser)
1g.237784413C>ACA345413950RYR2c.*3793C>A (n.*3793C>A)
c.12689C>A (p.Ala4230Asp)
c.12722C>A (p.Ala4241Asp)
c.4878C>A
c.12701C>A (p.Ala4234Asp)
c.2754C>A
c.12653C>A (p.Ala4218Asp)
n.3896C>A
c.12755C>A (p.Ala4252Asp)
c.12752C>A (p.Ala4251Asp)
c.12731C>A (p.Ala4244Asp)
c.12725C>A (p.Ala4242Asp)
c.12719C>A (p.Ala4240Asp)
c.12695C>A (p.Ala4232Asp)
c.12518C>A (p.Ala4173Asp)
c.12662C>A (p.Ala4221Asp)
c.12734C>A (p.Ala4245Asp)
 COSMIC COSMIC
1g.237784413C>GCA345413951RYR2c.*3793C>G (n.*3793C>G)
c.12689C>G (p.Ala4230Gly)
c.12722C>G (p.Ala4241Gly)
c.4878C>G
c.12701C>G (p.Ala4234Gly)
c.2754C>G
c.12653C>G (p.Ala4218Gly)
n.3896C>G
c.12755C>G (p.Ala4252Gly)
c.12752C>G (p.Ala4251Gly)
c.12731C>G (p.Ala4244Gly)
c.12725C>G (p.Ala4242Gly)
c.12719C>G (p.Ala4240Gly)
c.12695C>G (p.Ala4232Gly)
c.12518C>G (p.Ala4173Gly)
c.12662C>G (p.Ala4221Gly)
c.12734C>G (p.Ala4245Gly)
 COSMIC
1g.237784413C>TCA345413952RYR2c.*3793C>T (n.*3793C>T)
c.12689C>T (p.Ala4230Val)
c.12722C>T (p.Ala4241Val)
c.4878C>T
c.12701C>T (p.Ala4234Val)
c.2754C>T
c.12653C>T (p.Ala4218Val)
n.3896C>T
c.12755C>T (p.Ala4252Val)
c.12752C>T (p.Ala4251Val)
c.12731C>T (p.Ala4244Val)
c.12725C>T (p.Ala4242Val)
c.12719C>T (p.Ala4240Val)
c.12695C>T (p.Ala4232Val)
c.12518C>T (p.Ala4173Val)
c.12662C>T (p.Ala4221Val)
c.12734C>T (p.Ala4245Val)
1g.237784414T>ACA424032208RYR2c.*3794T>A (n.*3794T>A)
c.12690T>A (p.Ala4230=)
c.12723T>A (p.Ala4241=)
c.4879T>A
c.12702T>A (p.Ala4234=)
c.2755T>A
c.12654T>A (p.Ala4218=)
n.3897T>A
c.12756T>A (p.Ala4252=)
c.12753T>A (p.Ala4251=)
c.12732T>A (p.Ala4244=)
c.12726T>A (p.Ala4242=)
c.12720T>A (p.Ala4240=)
c.12696T>A (p.Ala4232=)
c.12519T>A (p.Ala4173=)
c.12663T>A (p.Ala4221=)
c.12735T>A (p.Ala4245=)
1g.237784414T>CCA424032209RYR2c.*3794T>C (n.*3794T>C)
c.12690T>C (p.Ala4230=)
c.12723T>C (p.Ala4241=)
c.4879T>C
c.12702T>C (p.Ala4234=)
c.2755T>C
c.12654T>C (p.Ala4218=)
n.3897T>C
c.12756T>C (p.Ala4252=)
c.12753T>C (p.Ala4251=)
c.12732T>C (p.Ala4244=)
c.12726T>C (p.Ala4242=)
c.12720T>C (p.Ala4240=)
c.12696T>C (p.Ala4232=)
c.12519T>C (p.Ala4173=)
c.12663T>C (p.Ala4221=)
c.12735T>C (p.Ala4245=)
1g.237784414T>GCA424032210RYR2c.*3794T>G (n.*3794T>G)
c.12690T>G (p.Ala4230=)
c.12723T>G (p.Ala4241=)
c.4879T>G
c.12702T>G (p.Ala4234=)
c.2755T>G
c.12654T>G (p.Ala4218=)
n.3897T>G
c.12756T>G (p.Ala4252=)
c.12753T>G (p.Ala4251=)
c.12732T>G (p.Ala4244=)
c.12726T>G (p.Ala4242=)
c.12720T>G (p.Ala4240=)
c.12696T>G (p.Ala4232=)
c.12519T>G (p.Ala4173=)
c.12663T>G (p.Ala4221=)
c.12735T>G (p.Ala4245=)
 dbSNP
1g.237784415T>ACA345413953RYR2c.*3795T>A (n.*3795T>A)
c.12691T>A (p.Phe4231Ile)
c.12724T>A (p.Phe4242Ile)
c.4880T>A
c.12703T>A (p.Phe4235Ile)
c.2756T>A
c.12655T>A (p.Phe4219Ile)
n.3898T>A
c.12757T>A (p.Phe4253Ile)
c.12754T>A (p.Phe4252Ile)
c.12733T>A (p.Phe4245Ile)
c.12727T>A (p.Phe4243Ile)
c.12721T>A (p.Phe4241Ile)
c.12697T>A (p.Phe4233Ile)
c.12520T>A (p.Phe4174Ile)
c.12664T>A (p.Phe4222Ile)
c.12736T>A (p.Phe4246Ile)
1g.237784415T>CCA345413954RYR2c.*3795T>C (n.*3795T>C)
c.12691T>C (p.Phe4231Leu)
c.12724T>C (p.Phe4242Leu)
c.4880T>C
c.12703T>C (p.Phe4235Leu)
c.2756T>C
c.12655T>C (p.Phe4219Leu)
n.3898T>C
c.12757T>C (p.Phe4253Leu)
c.12754T>C (p.Phe4252Leu)
c.12733T>C (p.Phe4245Leu)
c.12727T>C (p.Phe4243Leu)
c.12721T>C (p.Phe4241Leu)
c.12697T>C (p.Phe4233Leu)
c.12520T>C (p.Phe4174Leu)
c.12664T>C (p.Phe4222Leu)
c.12736T>C (p.Phe4246Leu)
 gnomAD v4
1g.237784415T>GCA345413955RYR2c.*3795T>G (n.*3795T>G)
c.12691T>G (p.Phe4231Val)
c.12724T>G (p.Phe4242Val)
c.4880T>G
c.12703T>G (p.Phe4235Val)
c.2756T>G
c.12655T>G (p.Phe4219Val)
n.3898T>G
c.12757T>G (p.Phe4253Val)
c.12754T>G (p.Phe4252Val)
c.12733T>G (p.Phe4245Val)
c.12727T>G (p.Phe4243Val)
c.12721T>G (p.Phe4241Val)
c.12697T>G (p.Phe4233Val)
c.12520T>G (p.Phe4174Val)
c.12664T>G (p.Phe4222Val)
c.12736T>G (p.Phe4246Val)
1g.237784416T>ACA345413958RYR2c.*3796T>A (n.*3796T>A)
c.12692T>A (p.Phe4231Tyr)
c.12725T>A (p.Phe4242Tyr)
c.4881T>A
c.12704T>A (p.Phe4235Tyr)
c.2757T>A
c.12656T>A (p.Phe4219Tyr)
n.3899T>A
c.12758T>A (p.Phe4253Tyr)
c.12755T>A (p.Phe4252Tyr)
c.12734T>A (p.Phe4245Tyr)
c.12728T>A (p.Phe4243Tyr)
c.12722T>A (p.Phe4241Tyr)
c.12698T>A (p.Phe4233Tyr)
c.12521T>A (p.Phe4174Tyr)
c.12665T>A (p.Phe4222Tyr)
c.12737T>A (p.Phe4246Tyr)
1g.237784416T>CCA345413957RYR2c.*3796T>C (n.*3796T>C)
c.12692T>C (p.Phe4231Ser)
c.12725T>C (p.Phe4242Ser)
c.4881T>C
c.12704T>C (p.Phe4235Ser)
c.2757T>C
c.12656T>C (p.Phe4219Ser)
n.3899T>C
c.12758T>C (p.Phe4253Ser)
c.12755T>C (p.Phe4252Ser)
c.12734T>C (p.Phe4245Ser)
c.12728T>C (p.Phe4243Ser)
c.12722T>C (p.Phe4241Ser)
c.12698T>C (p.Phe4233Ser)
c.12521T>C (p.Phe4174Ser)
c.12665T>C (p.Phe4222Ser)
c.12737T>C (p.Phe4246Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.237784416T>GCA345413956RYR2c.*3796T>G (n.*3796T>G)
c.12692T>G (p.Phe4231Cys)
c.12725T>G (p.Phe4242Cys)
c.4881T>G
c.12704T>G (p.Phe4235Cys)
c.2757T>G
c.12656T>G (p.Phe4219Cys)
n.3899T>G
c.12758T>G (p.Phe4253Cys)
c.12755T>G (p.Phe4252Cys)
c.12734T>G (p.Phe4245Cys)
c.12728T>G (p.Phe4243Cys)
c.12722T>G (p.Phe4241Cys)
c.12698T>G (p.Phe4233Cys)
c.12521T>G (p.Phe4174Cys)
c.12665T>G (p.Phe4222Cys)
c.12737T>G (p.Phe4246Cys)
1g.237784416T=CA2487482511RYR2c.*3796T= (n.*3796T=)
c.12692T= (p.Phe4231=)
c.12725T= (p.Phe4242=)
c.4881T=
c.12704T= (p.Phe4235=)
c.2757T=
c.12656T= (p.Phe4219=)
n.3899T=
c.12758T= (p.Phe4253=)
c.12755T= (p.Phe4252=)
c.12734T= (p.Phe4245=)
c.12728T= (p.Phe4243=)
c.12722T= (p.Phe4241=)
c.12698T= (p.Phe4233=)
c.12521T= (p.Phe4174=)
c.12665T= (p.Phe4222=)
c.12737T= (p.Phe4246=)
1g.237784417C>ACA345413959RYR2c.*3797C>A (n.*3797C>A)
c.12693C>A (p.Phe4231Leu)
c.12726C>A (p.Phe4242Leu)
c.4882C>A
c.12705C>A (p.Phe4235Leu)
c.2758C>A
c.12657C>A (p.Phe4219Leu)
n.3900C>A
c.12759C>A (p.Phe4253Leu)
c.12756C>A (p.Phe4252Leu)
c.12735C>A (p.Phe4245Leu)
c.12729C>A (p.Phe4243Leu)
c.12723C>A (p.Phe4241Leu)
c.12699C>A (p.Phe4233Leu)
c.12522C>A (p.Phe4174Leu)
c.12666C>A (p.Phe4222Leu)
c.12738C>A (p.Phe4246Leu)
 COSMIC COSMIC
1g.237784417C=CA1143939648RYR2c.*3797C= (n.*3797C=)
c.12693C= (p.Phe4231=)
c.12726C= (p.Phe4242=)
c.4882C=
c.12705C= (p.Phe4235=)
c.2758C=
c.12657C= (p.Phe4219=)
n.3900C=
c.12759C= (p.Phe4253=)
c.12756C= (p.Phe4252=)
c.12735C= (p.Phe4245=)
c.12729C= (p.Phe4243=)
c.12723C= (p.Phe4241=)
c.12699C= (p.Phe4233=)
c.12522C= (p.Phe4174=)
c.12666C= (p.Phe4222=)
c.12738C= (p.Phe4246=)
1g.237784417C>GCA345413960RYR2c.*3797C>G (n.*3797C>G)
c.12693C>G (p.Phe4231Leu)
c.12726C>G (p.Phe4242Leu)
c.4882C>G
c.12705C>G (p.Phe4235Leu)
c.2758C>G
c.12657C>G (p.Phe4219Leu)
n.3900C>G
c.12759C>G (p.Phe4253Leu)
c.12756C>G (p.Phe4252Leu)
c.12735C>G (p.Phe4245Leu)
c.12729C>G (p.Phe4243Leu)
c.12723C>G (p.Phe4241Leu)
c.12699C>G (p.Phe4233Leu)
c.12522C>G (p.Phe4174Leu)
c.12666C>G (p.Phe4222Leu)
c.12738C>G (p.Phe4246Leu)
1g.237784417C>TCA007686RYR2c.*3797C>T (n.*3797C>T)
c.12693C>T (p.Phe4231=)
c.12726C>T (p.Phe4242=)
c.4882C>T
c.12705C>T (p.Phe4235=)
c.2758C>T
c.12657C>T (p.Phe4219=)
n.3900C>T
c.12759C>T (p.Phe4253=)
c.12756C>T (p.Phe4252=)
c.12735C>T (p.Phe4245=)
c.12729C>T (p.Phe4243=)
c.12723C>T (p.Phe4241=)
c.12699C>T (p.Phe4233=)
c.12522C>T (p.Phe4174=)
c.12666C>T (p.Phe4222=)
c.12738C>T (p.Phe4246=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237784418T>ACA39827908RYR2c.*3798T>A (n.*3798T>A)
c.12694T>A (p.Phe4232Ile)
c.12727T>A (p.Phe4243Ile)
c.4883T>A
c.12706T>A (p.Phe4236Ile)
c.2759T>A
c.12658T>A (p.Phe4220Ile)
n.3901T>A
c.12760T>A (p.Phe4254Ile)
c.12757T>A (p.Phe4253Ile)
c.12736T>A (p.Phe4246Ile)
c.12730T>A (p.Phe4244Ile)
c.12724T>A (p.Phe4242Ile)
c.12700T>A (p.Phe4234Ile)
c.12523T>A (p.Phe4175Ile)
c.12667T>A (p.Phe4223Ile)
c.12739T>A (p.Phe4247Ile)
 dbSNP
1g.237784418T>CCA345413961RYR2c.*3798T>C (n.*3798T>C)
c.12694T>C (p.Phe4232Leu)
c.12727T>C (p.Phe4243Leu)
c.4883T>C
c.12706T>C (p.Phe4236Leu)
c.2759T>C
c.12658T>C (p.Phe4220Leu)
n.3901T>C
c.12760T>C (p.Phe4254Leu)
c.12757T>C (p.Phe4253Leu)
c.12736T>C (p.Phe4246Leu)
c.12730T>C (p.Phe4244Leu)
c.12724T>C (p.Phe4242Leu)
c.12700T>C (p.Phe4234Leu)
c.12523T>C (p.Phe4175Leu)
c.12667T>C (p.Phe4223Leu)
c.12739T>C (p.Phe4247Leu)
1g.237784418T>GCA345413962RYR2c.*3798T>G (n.*3798T>G)
c.12694T>G (p.Phe4232Val)
c.12727T>G (p.Phe4243Val)
c.4883T>G
c.12706T>G (p.Phe4236Val)
c.2759T>G
c.12658T>G (p.Phe4220Val)
n.3901T>G
c.12760T>G (p.Phe4254Val)
c.12757T>G (p.Phe4253Val)
c.12736T>G (p.Phe4246Val)
c.12730T>G (p.Phe4244Val)
c.12724T>G (p.Phe4242Val)
c.12700T>G (p.Phe4234Val)
c.12523T>G (p.Phe4175Val)
c.12667T>G (p.Phe4223Val)
c.12739T>G (p.Phe4247Val)
 dbSNP
1g.237784418T=CA2487482512RYR2c.*3798T= (n.*3798T=)
c.12694T= (p.Phe4232=)
c.12727T= (p.Phe4243=)
c.4883T=
c.12706T= (p.Phe4236=)
c.2759T=
c.12658T= (p.Phe4220=)
n.3901T=
c.12760T= (p.Phe4254=)
c.12757T= (p.Phe4253=)
c.12736T= (p.Phe4246=)
c.12730T= (p.Phe4244=)
c.12724T= (p.Phe4242=)
c.12700T= (p.Phe4234=)
c.12523T= (p.Phe4175=)
c.12667T= (p.Phe4223=)
c.12739T= (p.Phe4247=)
1g.237784419T>ACA345413963RYR2c.*3799T>A (n.*3799T>A)
c.12695T>A (p.Phe4232Tyr)
c.12728T>A (p.Phe4243Tyr)
c.4884T>A
c.12707T>A (p.Phe4236Tyr)
c.2760T>A
c.12659T>A (p.Phe4220Tyr)
n.3902T>A
c.12761T>A (p.Phe4254Tyr)
c.12758T>A (p.Phe4253Tyr)
c.12737T>A (p.Phe4246Tyr)
c.12731T>A (p.Phe4244Tyr)
c.12725T>A (p.Phe4242Tyr)
c.12701T>A (p.Phe4234Tyr)
c.12524T>A (p.Phe4175Tyr)
c.12668T>A (p.Phe4223Tyr)
c.12740T>A (p.Phe4247Tyr)
1g.237784419T>CCA345413964RYR2c.*3799T>C (n.*3799T>C)
c.12695T>C (p.Phe4232Ser)
c.12728T>C (p.Phe4243Ser)
c.4884T>C
c.12707T>C (p.Phe4236Ser)
c.2760T>C
c.12659T>C (p.Phe4220Ser)
n.3902T>C
c.12761T>C (p.Phe4254Ser)
c.12758T>C (p.Phe4253Ser)
c.12737T>C (p.Phe4246Ser)
c.12731T>C (p.Phe4244Ser)
c.12725T>C (p.Phe4242Ser)
c.12701T>C (p.Phe4234Ser)
c.12524T>C (p.Phe4175Ser)
c.12668T>C (p.Phe4223Ser)
c.12740T>C (p.Phe4247Ser)
1g.237784419T>GCA345413965RYR2c.*3799T>G (n.*3799T>G)
c.12695T>G (p.Phe4232Cys)
c.12728T>G (p.Phe4243Cys)
c.4884T>G
c.12707T>G (p.Phe4236Cys)
c.2760T>G
c.12659T>G (p.Phe4220Cys)
n.3902T>G
c.12761T>G (p.Phe4254Cys)
c.12758T>G (p.Phe4253Cys)
c.12737T>G (p.Phe4246Cys)
c.12731T>G (p.Phe4244Cys)
c.12725T>G (p.Phe4242Cys)
c.12701T>G (p.Phe4234Cys)
c.12524T>G (p.Phe4175Cys)
c.12668T>G (p.Phe4223Cys)
c.12740T>G (p.Phe4247Cys)
1g.237784420C>ACA345413966RYR2c.*3800C>A (n.*3800C>A)
c.12696C>A (p.Phe4232Leu)
c.12729C>A (p.Phe4243Leu)
c.4885C>A
c.12708C>A (p.Phe4236Leu)
c.2761C>A
c.12660C>A (p.Phe4220Leu)
n.3903C>A
c.12762C>A (p.Phe4254Leu)
c.12759C>A (p.Phe4253Leu)
c.12738C>A (p.Phe4246Leu)
c.12732C>A (p.Phe4244Leu)
c.12726C>A (p.Phe4242Leu)
c.12702C>A (p.Phe4234Leu)
c.12525C>A (p.Phe4175Leu)
c.12669C>A (p.Phe4223Leu)
c.12741C>A (p.Phe4247Leu)
1g.237784420C>GCA345413967RYR2c.*3800C>G (n.*3800C>G)
c.12696C>G (p.Phe4232Leu)
c.12729C>G (p.Phe4243Leu)
c.4885C>G
c.12708C>G (p.Phe4236Leu)
c.2761C>G
c.12660C>G (p.Phe4220Leu)
n.3903C>G
c.12762C>G (p.Phe4254Leu)
c.12759C>G (p.Phe4253Leu)
c.12738C>G (p.Phe4246Leu)
c.12732C>G (p.Phe4244Leu)
c.12726C>G (p.Phe4242Leu)
c.12702C>G (p.Phe4234Leu)
c.12525C>G (p.Phe4175Leu)
c.12669C>G (p.Phe4223Leu)
c.12741C>G (p.Phe4247Leu)
1g.237784420C>TCA424032214RYR2c.*3800C>T (n.*3800C>T)
c.12696C>T (p.Phe4232=)
c.12729C>T (p.Phe4243=)
c.4885C>T
c.12708C>T (p.Phe4236=)
c.2761C>T
c.12660C>T (p.Phe4220=)
n.3903C>T
c.12762C>T (p.Phe4254=)
c.12759C>T (p.Phe4253=)
c.12738C>T (p.Phe4246=)
c.12732C>T (p.Phe4244=)
c.12726C>T (p.Phe4242=)
c.12702C>T (p.Phe4234=)
c.12525C>T (p.Phe4175=)
c.12669C>T (p.Phe4223=)
c.12741C>T (p.Phe4247=)
 ClinVar dbSNP
1g.237784421T>ACA345413968RYR2c.*3801T>A (n.*3801T>A)
c.12697T>A (p.Ser4233Thr)
c.12730T>A (p.Ser4244Thr)
c.4886T>A
c.12709T>A (p.Ser4237Thr)
c.2762T>A
c.12661T>A (p.Ser4221Thr)
n.3904T>A
c.12763T>A (p.Ser4255Thr)
c.12760T>A (p.Ser4254Thr)
c.12739T>A (p.Ser4247Thr)
c.12733T>A (p.Ser4245Thr)
c.12727T>A (p.Ser4243Thr)
c.12703T>A (p.Ser4235Thr)
c.12526T>A (p.Ser4176Thr)
c.12670T>A (p.Ser4224Thr)
c.12742T>A (p.Ser4248Thr)
1g.237784421T>CCA345413969RYR2c.*3801T>C (n.*3801T>C)
c.12697T>C (p.Ser4233Pro)
c.12730T>C (p.Ser4244Pro)
c.4886T>C
c.12709T>C (p.Ser4237Pro)
c.2762T>C
c.12661T>C (p.Ser4221Pro)
n.3904T>C
c.12763T>C (p.Ser4255Pro)
c.12760T>C (p.Ser4254Pro)
c.12739T>C (p.Ser4247Pro)
c.12733T>C (p.Ser4245Pro)
c.12727T>C (p.Ser4243Pro)
c.12703T>C (p.Ser4235Pro)
c.12526T>C (p.Ser4176Pro)
c.12670T>C (p.Ser4224Pro)
c.12742T>C (p.Ser4248Pro)
1g.237784421T>GCA345413970RYR2c.*3801T>G (n.*3801T>G)
c.12697T>G (p.Ser4233Ala)
c.12730T>G (p.Ser4244Ala)
c.4886T>G
c.12709T>G (p.Ser4237Ala)
c.2762T>G
c.12661T>G (p.Ser4221Ala)
n.3904T>G
c.12763T>G (p.Ser4255Ala)
c.12760T>G (p.Ser4254Ala)
c.12739T>G (p.Ser4247Ala)
c.12733T>G (p.Ser4245Ala)
c.12727T>G (p.Ser4243Ala)
c.12703T>G (p.Ser4235Ala)
c.12526T>G (p.Ser4176Ala)
c.12670T>G (p.Ser4224Ala)
c.12742T>G (p.Ser4248Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.237784421T=CA2487482513RYR2c.*3801T= (n.*3801T=)
c.12697T= (p.Ser4233=)
c.12730T= (p.Ser4244=)
c.4886T=
c.12709T= (p.Ser4237=)
c.2762T=
c.12661T= (p.Ser4221=)
n.3904T=
c.12763T= (p.Ser4255=)
c.12760T= (p.Ser4254=)
c.12739T= (p.Ser4247=)
c.12733T= (p.Ser4245=)
c.12727T= (p.Ser4243=)
c.12703T= (p.Ser4235=)
c.12526T= (p.Ser4176=)
c.12670T= (p.Ser4224=)
c.12742T= (p.Ser4248=)
1g.237784422C>ACA345413972RYR2c.*3802C>A (n.*3802C>A)
c.12698C>A (p.Ser4233Tyr)
c.12731C>A (p.Ser4244Tyr)
c.4887C>A
c.12710C>A (p.Ser4237Tyr)
c.2763C>A
c.12662C>A (p.Ser4221Tyr)
n.3905C>A
c.12764C>A (p.Ser4255Tyr)
c.12761C>A (p.Ser4254Tyr)
c.12740C>A (p.Ser4247Tyr)
c.12734C>A (p.Ser4245Tyr)
c.12728C>A (p.Ser4243Tyr)
c.12704C>A (p.Ser4235Tyr)
c.12527C>A (p.Ser4176Tyr)
c.12671C>A (p.Ser4224Tyr)
c.12743C>A (p.Ser4248Tyr)
1g.237784422C>GCA345413973RYR2c.*3802C>G (n.*3802C>G)
c.12698C>G (p.Ser4233Cys)
c.12731C>G (p.Ser4244Cys)
c.4887C>G
c.12710C>G (p.Ser4237Cys)
c.2763C>G
c.12662C>G (p.Ser4221Cys)
n.3905C>G
c.12764C>G (p.Ser4255Cys)
c.12761C>G (p.Ser4254Cys)
c.12740C>G (p.Ser4247Cys)
c.12734C>G (p.Ser4245Cys)
c.12728C>G (p.Ser4243Cys)
c.12704C>G (p.Ser4235Cys)
c.12527C>G (p.Ser4176Cys)
c.12671C>G (p.Ser4224Cys)
c.12743C>G (p.Ser4248Cys)
1g.237784422C>TCA345413971RYR2c.*3802C>T (n.*3802C>T)
c.12698C>T (p.Ser4233Phe)
c.12731C>T (p.Ser4244Phe)
c.4887C>T
c.12710C>T (p.Ser4237Phe)
c.2763C>T
c.12662C>T (p.Ser4221Phe)
n.3905C>T
c.12764C>T (p.Ser4255Phe)
c.12761C>T (p.Ser4254Phe)
c.12740C>T (p.Ser4247Phe)
c.12734C>T (p.Ser4245Phe)
c.12728C>T (p.Ser4243Phe)
c.12704C>T (p.Ser4235Phe)
c.12527C>T (p.Ser4176Phe)
c.12671C>T (p.Ser4224Phe)
c.12743C>T (p.Ser4248Phe)
1g.237784423C>ACA424032215RYR2c.*3803C>A (n.*3803C>A)
c.12699C>A (p.Ser4233=)
c.12732C>A (p.Ser4244=)
c.4888C>A
c.12711C>A (p.Ser4237=)
c.2764C>A
c.12663C>A (p.Ser4221=)
n.3906C>A
c.12765C>A (p.Ser4255=)
c.12762C>A (p.Ser4254=)
c.12741C>A (p.Ser4247=)
c.12735C>A (p.Ser4245=)
c.12729C>A (p.Ser4243=)
c.12705C>A (p.Ser4235=)
c.12528C>A (p.Ser4176=)
c.12672C>A (p.Ser4224=)
c.12744C>A (p.Ser4248=)
1g.237784423C=CA2487482514RYR2c.*3803C= (n.*3803C=)
c.12699C= (p.Ser4233=)
c.12732C= (p.Ser4244=)
c.4888C=
c.12711C= (p.Ser4237=)
c.2764C=
c.12663C= (p.Ser4221=)
n.3906C=
c.12765C= (p.Ser4255=)
c.12762C= (p.Ser4254=)
c.12741C= (p.Ser4247=)
c.12735C= (p.Ser4245=)
c.12729C= (p.Ser4243=)
c.12705C= (p.Ser4235=)
c.12528C= (p.Ser4176=)
c.12672C= (p.Ser4224=)
c.12744C= (p.Ser4248=)
1g.237784423C>GCA424032216RYR2c.*3803C>G (n.*3803C>G)
c.12699C>G (p.Ser4233=)
c.12732C>G (p.Ser4244=)
c.4888C>G
c.12711C>G (p.Ser4237=)
c.2764C>G
c.12663C>G (p.Ser4221=)
n.3906C>G
c.12765C>G (p.Ser4255=)
c.12762C>G (p.Ser4254=)
c.12741C>G (p.Ser4247=)
c.12735C>G (p.Ser4245=)
c.12729C>G (p.Ser4243=)
c.12705C>G (p.Ser4235=)
c.12528C>G (p.Ser4176=)
c.12672C>G (p.Ser4224=)
c.12744C>G (p.Ser4248=)
1g.237784423C>TCA424032217RYR2c.*3803C>T (n.*3803C>T)
c.12699C>T (p.Ser4233=)
c.12732C>T (p.Ser4244=)
c.4888C>T
c.12711C>T (p.Ser4237=)
c.2764C>T
c.12663C>T (p.Ser4221=)
n.3906C>T
c.12765C>T (p.Ser4255=)
c.12762C>T (p.Ser4254=)
c.12741C>T (p.Ser4247=)
c.12735C>T (p.Ser4245=)
c.12729C>T (p.Ser4243=)
c.12705C>T (p.Ser4235=)
c.12528C>T (p.Ser4176=)
c.12672C>T (p.Ser4224=)
c.12744C>T (p.Ser4248=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.237784424A=CA2487482515RYR2c.*3804A= (n.*3804A=)
c.12700A= (p.Ile4234=)
c.12733A= (p.Ile4245=)
c.4889A=
c.12712A= (p.Ile4238=)
c.2765A=
c.12664A= (p.Ile4222=)
n.3907A=
c.12766A= (p.Ile4256=)
c.12763A= (p.Ile4255=)
c.12742A= (p.Ile4248=)
c.12736A= (p.Ile4246=)
c.12730A= (p.Ile4244=)
c.12706A= (p.Ile4236=)
c.12529A= (p.Ile4177=)
c.12673A= (p.Ile4225=)
c.12745A= (p.Ile4249=)
1g.237784424A>CCA345413974RYR2c.*3804A>C (n.*3804A>C)
c.12700A>C (p.Ile4234Leu)
c.12733A>C (p.Ile4245Leu)
c.4889A>C
c.12712A>C (p.Ile4238Leu)
c.2765A>C
c.12664A>C (p.Ile4222Leu)
n.3907A>C
c.12766A>C (p.Ile4256Leu)
c.12763A>C (p.Ile4255Leu)
c.12742A>C (p.Ile4248Leu)
c.12736A>C (p.Ile4246Leu)
c.12730A>C (p.Ile4244Leu)
c.12706A>C (p.Ile4236Leu)
c.12529A>C (p.Ile4177Leu)
c.12673A>C (p.Ile4225Leu)
c.12745A>C (p.Ile4249Leu)
1g.237784424A>GCA345413975RYR2c.*3804A>G (n.*3804A>G)
c.12700A>G (p.Ile4234Val)
c.12733A>G (p.Ile4245Val)
c.4889A>G
c.12712A>G (p.Ile4238Val)
c.2765A>G
c.12664A>G (p.Ile4222Val)
n.3907A>G
c.12766A>G (p.Ile4256Val)
c.12763A>G (p.Ile4255Val)
c.12742A>G (p.Ile4248Val)
c.12736A>G (p.Ile4246Val)
c.12730A>G (p.Ile4244Val)
c.12706A>G (p.Ile4236Val)
c.12529A>G (p.Ile4177Val)
c.12673A>G (p.Ile4225Val)
c.12745A>G (p.Ile4249Val)
 ClinVar dbSNP
1g.237784424A>TCA345413976RYR2c.*3804A>T (n.*3804A>T)
c.12700A>T (p.Ile4234Phe)
c.12733A>T (p.Ile4245Phe)
c.4889A>T
c.12712A>T (p.Ile4238Phe)
c.2765A>T
c.12664A>T (p.Ile4222Phe)
n.3907A>T
c.12766A>T (p.Ile4256Phe)
c.12763A>T (p.Ile4255Phe)
c.12742A>T (p.Ile4248Phe)
c.12736A>T (p.Ile4246Phe)
c.12730A>T (p.Ile4244Phe)
c.12706A>T (p.Ile4236Phe)
c.12529A>T (p.Ile4177Phe)
c.12673A>T (p.Ile4225Phe)
c.12745A>T (p.Ile4249Phe)
1g.237784425T>ACA345413977RYR2c.*3805T>A (n.*3805T>A)
c.12701T>A (p.Ile4234Asn)
c.12734T>A (p.Ile4245Asn)
c.4890T>A
c.12713T>A (p.Ile4238Asn)
c.2766T>A
c.12665T>A (p.Ile4222Asn)
n.3908T>A
c.12767T>A (p.Ile4256Asn)
c.12764T>A (p.Ile4255Asn)
c.12743T>A (p.Ile4248Asn)
c.12737T>A (p.Ile4246Asn)
c.12731T>A (p.Ile4244Asn)
c.12707T>A (p.Ile4236Asn)
c.12530T>A (p.Ile4177Asn)
c.12674T>A (p.Ile4225Asn)
c.12746T>A (p.Ile4249Asn)
1g.237784425T>CCA345413978RYR2c.*3805T>C (n.*3805T>C)
c.12701T>C (p.Ile4234Thr)
c.12734T>C (p.Ile4245Thr)
c.4890T>C
c.12713T>C (p.Ile4238Thr)
c.2766T>C
c.12665T>C (p.Ile4222Thr)
n.3908T>C
c.12767T>C (p.Ile4256Thr)
c.12764T>C (p.Ile4255Thr)
c.12743T>C (p.Ile4248Thr)
c.12737T>C (p.Ile4246Thr)
c.12731T>C (p.Ile4244Thr)
c.12707T>C (p.Ile4236Thr)
c.12530T>C (p.Ile4177Thr)
c.12674T>C (p.Ile4225Thr)
c.12746T>C (p.Ile4249Thr)
 dbSNP
1g.237784425T>GCA345413979RYR2c.*3805T>G (n.*3805T>G)
c.12701T>G (p.Ile4234Ser)
c.12734T>G (p.Ile4245Ser)
c.4890T>G
c.12713T>G (p.Ile4238Ser)
c.2766T>G
c.12665T>G (p.Ile4222Ser)
n.3908T>G
c.12767T>G (p.Ile4256Ser)
c.12764T>G (p.Ile4255Ser)
c.12743T>G (p.Ile4248Ser)
c.12737T>G (p.Ile4246Ser)
c.12731T>G (p.Ile4244Ser)
c.12707T>G (p.Ile4236Ser)
c.12530T>G (p.Ile4177Ser)
c.12674T>G (p.Ile4225Ser)
c.12746T>G (p.Ile4249Ser)
 gnomAD v4
1g.237784425T=CA2487482516RYR2c.*3805T= (n.*3805T=)
c.12701T= (p.Ile4234=)
c.12734T= (p.Ile4245=)
c.4890T=
c.12713T= (p.Ile4238=)
c.2766T=
c.12665T= (p.Ile4222=)
n.3908T=
c.12767T= (p.Ile4256=)
c.12764T= (p.Ile4255=)
c.12743T= (p.Ile4248=)
c.12737T= (p.Ile4246=)
c.12731T= (p.Ile4244=)
c.12707T= (p.Ile4236=)
c.12530T= (p.Ile4177=)
c.12674T= (p.Ile4225=)
c.12746T= (p.Ile4249=)
1g.237784426T>ACA424032221RYR2c.*3806T>A (n.*3806T>A)
c.12702T>A (p.Ile4234=)
c.12735T>A (p.Ile4245=)
c.4891T>A
c.12714T>A (p.Ile4238=)
c.2767T>A
c.12666T>A (p.Ile4222=)
n.3909T>A
c.12768T>A (p.Ile4256=)
c.12765T>A (p.Ile4255=)
c.12744T>A (p.Ile4248=)
c.12738T>A (p.Ile4246=)
c.12732T>A (p.Ile4244=)
c.12708T>A (p.Ile4236=)
c.12531T>A (p.Ile4177=)
c.12675T>A (p.Ile4225=)
c.12747T>A (p.Ile4249=)
1g.237784426T>CCA424032222RYR2c.*3806T>C (n.*3806T>C)
c.12702T>C (p.Ile4234=)
c.12735T>C (p.Ile4245=)
c.4891T>C
c.12714T>C (p.Ile4238=)
c.2767T>C
c.12666T>C (p.Ile4222=)
n.3909T>C
c.12768T>C (p.Ile4256=)
c.12765T>C (p.Ile4255=)
c.12744T>C (p.Ile4248=)
c.12738T>C (p.Ile4246=)
c.12732T>C (p.Ile4244=)
c.12708T>C (p.Ile4236=)
c.12531T>C (p.Ile4177=)
c.12675T>C (p.Ile4225=)
c.12747T>C (p.Ile4249=)
 dbSNP
1g.237784426T>GCA345413980RYR2c.*3806T>G (n.*3806T>G)
c.12702T>G (p.Ile4234Met)
c.12735T>G (p.Ile4245Met)
c.4891T>G
c.12714T>G (p.Ile4238Met)
c.2767T>G
c.12666T>G (p.Ile4222Met)
n.3909T>G
c.12768T>G (p.Ile4256Met)
c.12765T>G (p.Ile4255Met)
c.12744T>G (p.Ile4248Met)
c.12738T>G (p.Ile4246Met)
c.12732T>G (p.Ile4244Met)
c.12708T>G (p.Ile4236Met)
c.12531T>G (p.Ile4177Met)
c.12675T>G (p.Ile4225Met)
c.12747T>G (p.Ile4249Met)
1g.237784427C>ACA345413981RYR2c.*3807C>A (n.*3807C>A)
c.12703C>A (p.Leu4235Met)
c.12736C>A (p.Leu4246Met)
c.4892C>A
c.12715C>A (p.Leu4239Met)
c.2768C>A
c.12667C>A (p.Leu4223Met)
n.3910C>A
c.12769C>A (p.Leu4257Met)
c.12766C>A (p.Leu4256Met)
c.12745C>A (p.Leu4249Met)
c.12739C>A (p.Leu4247Met)
c.12733C>A (p.Leu4245Met)
c.12709C>A (p.Leu4237Met)
c.12532C>A (p.Leu4178Met)
c.12676C>A (p.Leu4226Met)
c.12748C>A (p.Leu4250Met)
1g.237784427C=CA2487482517RYR2c.*3807C= (n.*3807C=)
c.12703C= (p.Leu4235=)
c.12736C= (p.Leu4246=)
c.4892C=
c.12715C= (p.Leu4239=)
c.2768C=
c.12667C= (p.Leu4223=)
n.3910C=
c.12769C= (p.Leu4257=)
c.12766C= (p.Leu4256=)
c.12745C= (p.Leu4249=)
c.12739C= (p.Leu4247=)
c.12733C= (p.Leu4245=)
c.12709C= (p.Leu4237=)
c.12532C= (p.Leu4178=)
c.12676C= (p.Leu4226=)
c.12748C= (p.Leu4250=)
1g.237784427C>GCA345413982RYR2c.*3807C>G (n.*3807C>G)
c.12703C>G (p.Leu4235Val)
c.12736C>G (p.Leu4246Val)
c.4892C>G
c.12715C>G (p.Leu4239Val)
c.2768C>G
c.12667C>G (p.Leu4223Val)
n.3910C>G
c.12769C>G (p.Leu4257Val)
c.12766C>G (p.Leu4256Val)
c.12745C>G (p.Leu4249Val)
c.12739C>G (p.Leu4247Val)
c.12733C>G (p.Leu4245Val)
c.12709C>G (p.Leu4237Val)
c.12532C>G (p.Leu4178Val)
c.12676C>G (p.Leu4226Val)
c.12748C>G (p.Leu4250Val)
1g.237784427C>TCA085220RYR2c.*3807C>T (n.*3807C>T)
c.12703C>T (p.Leu4235=)
c.12736C>T (p.Leu4246=)
c.4892C>T
c.12715C>T (p.Leu4239=)
c.2768C>T
c.12667C>T (p.Leu4223=)
n.3910C>T
c.12769C>T (p.Leu4257=)
c.12766C>T (p.Leu4256=)
c.12745C>T (p.Leu4249=)
c.12739C>T (p.Leu4247=)
c.12733C>T (p.Leu4245=)
c.12709C>T (p.Leu4237=)
c.12532C>T (p.Leu4178=)
c.12676C>T (p.Leu4226=)
c.12748C>T (p.Leu4250=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237784428T>ACA345413983RYR2c.*3808T>A (n.*3808T>A)
c.12704T>A (p.Leu4235Gln)
c.12737T>A (p.Leu4246Gln)
c.4893T>A
c.12716T>A (p.Leu4239Gln)
c.2769T>A
c.12668T>A (p.Leu4223Gln)
n.3911T>A
c.12770T>A (p.Leu4257Gln)
c.12767T>A (p.Leu4256Gln)
c.12746T>A (p.Leu4249Gln)
c.12740T>A (p.Leu4247Gln)
c.12734T>A (p.Leu4245Gln)
c.12710T>A (p.Leu4237Gln)
c.12533T>A (p.Leu4178Gln)
c.12677T>A (p.Leu4226Gln)
c.12749T>A (p.Leu4250Gln)
1g.237784428T>CCA345413984RYR2c.*3808T>C (n.*3808T>C)
c.12704T>C (p.Leu4235Pro)
c.12737T>C (p.Leu4246Pro)
c.4893T>C
c.12716T>C (p.Leu4239Pro)
c.2769T>C
c.12668T>C (p.Leu4223Pro)
n.3911T>C
c.12770T>C (p.Leu4257Pro)
c.12767T>C (p.Leu4256Pro)
c.12746T>C (p.Leu4249Pro)
c.12740T>C (p.Leu4247Pro)
c.12734T>C (p.Leu4245Pro)
c.12710T>C (p.Leu4237Pro)
c.12533T>C (p.Leu4178Pro)
c.12677T>C (p.Leu4226Pro)
c.12749T>C (p.Leu4250Pro)
1g.237784428T>GCA345413985RYR2c.*3808T>G (n.*3808T>G)
c.12704T>G (p.Leu4235Arg)
c.12737T>G (p.Leu4246Arg)
c.4893T>G
c.12716T>G (p.Leu4239Arg)
c.2769T>G
c.12668T>G (p.Leu4223Arg)
n.3911T>G
c.12770T>G (p.Leu4257Arg)
c.12767T>G (p.Leu4256Arg)
c.12746T>G (p.Leu4249Arg)
c.12740T>G (p.Leu4247Arg)
c.12734T>G (p.Leu4245Arg)
c.12710T>G (p.Leu4237Arg)
c.12533T>G (p.Leu4178Arg)
c.12677T>G (p.Leu4226Arg)
c.12749T>G (p.Leu4250Arg)
1g.237784429G>ACA424032226RYR2c.*3809G>A (n.*3809G>A)
c.12705G>A (p.Leu4235=)
c.12738G>A (p.Leu4246=)
c.4894G>A
c.12717G>A (p.Leu4239=)
c.2770G>A
c.12669G>A (p.Leu4223=)
n.3912G>A
c.12771G>A (p.Leu4257=)
c.12768G>A (p.Leu4256=)
c.12747G>A (p.Leu4249=)
c.12741G>A (p.Leu4247=)
c.12735G>A (p.Leu4245=)
c.12711G>A (p.Leu4237=)
c.12534G>A (p.Leu4178=)
c.12678G>A (p.Leu4226=)
c.12750G>A (p.Leu4250=)
1g.237784429G>CCA424032227RYR2c.*3809G>C (n.*3809G>C)
c.12705G>C (p.Leu4235=)
c.12738G>C (p.Leu4246=)
c.4894G>C
c.12717G>C (p.Leu4239=)
c.2770G>C
c.12669G>C (p.Leu4223=)
n.3912G>C
c.12771G>C (p.Leu4257=)
c.12768G>C (p.Leu4256=)
c.12747G>C (p.Leu4249=)
c.12741G>C (p.Leu4247=)
c.12735G>C (p.Leu4245=)
c.12711G>C (p.Leu4237=)
c.12534G>C (p.Leu4178=)
c.12678G>C (p.Leu4226=)
c.12750G>C (p.Leu4250=)
 ClinVar gnomAD v4
1g.237784429G>TCA424032228RYR2c.*3809G>T (n.*3809G>T)
c.12705G>T (p.Leu4235=)
c.12738G>T (p.Leu4246=)
c.4894G>T
c.12717G>T (p.Leu4239=)
c.2770G>T
c.12669G>T (p.Leu4223=)
n.3912G>T
c.12771G>T (p.Leu4257=)
c.12768G>T (p.Leu4256=)
c.12747G>T (p.Leu4249=)
c.12741G>T (p.Leu4247=)
c.12735G>T (p.Leu4245=)
c.12711G>T (p.Leu4237=)
c.12534G>T (p.Leu4178=)
c.12678G>T (p.Leu4226=)
c.12750G>T (p.Leu4250=)
1g.237784430A>CCA345413988RYR2c.*3810A>C (n.*3810A>C)
c.12706A>C (p.Thr4236Pro)
c.12739A>C (p.Thr4247Pro)
c.4895A>C
c.12718A>C (p.Thr4240Pro)
c.2771A>C
c.12670A>C (p.Thr4224Pro)
n.3913A>C
c.12772A>C (p.Thr4258Pro)
c.12769A>C (p.Thr4257Pro)
c.12748A>C (p.Thr4250Pro)
c.12742A>C (p.Thr4248Pro)
c.12736A>C (p.Thr4246Pro)
c.12712A>C (p.Thr4238Pro)
c.12535A>C (p.Thr4179Pro)
c.12679A>C (p.Thr4227Pro)
c.12751A>C (p.Thr4251Pro)
1g.237784430A>GCA345413986RYR2c.*3810A>G (n.*3810A>G)
c.12706A>G (p.Thr4236Ala)
c.12739A>G (p.Thr4247Ala)
c.4895A>G
c.12718A>G (p.Thr4240Ala)
c.2771A>G
c.12670A>G (p.Thr4224Ala)
n.3913A>G
c.12772A>G (p.Thr4258Ala)
c.12769A>G (p.Thr4257Ala)
c.12748A>G (p.Thr4250Ala)
c.12742A>G (p.Thr4248Ala)
c.12736A>G (p.Thr4246Ala)
c.12712A>G (p.Thr4238Ala)
c.12535A>G (p.Thr4179Ala)
c.12679A>G (p.Thr4227Ala)
c.12751A>G (p.Thr4251Ala)
 ClinVar
1g.237784430A>TCA345413987RYR2c.*3810A>T (n.*3810A>T)
c.12706A>T (p.Thr4236Ser)
c.12739A>T (p.Thr4247Ser)
c.4895A>T
c.12718A>T (p.Thr4240Ser)
c.2771A>T
c.12670A>T (p.Thr4224Ser)
n.3913A>T
c.12772A>T (p.Thr4258Ser)
c.12769A>T (p.Thr4257Ser)
c.12748A>T (p.Thr4250Ser)
c.12742A>T (p.Thr4248Ser)
c.12736A>T (p.Thr4246Ser)
c.12712A>T (p.Thr4238Ser)
c.12535A>T (p.Thr4179Ser)
c.12679A>T (p.Thr4227Ser)
c.12751A>T (p.Thr4251Ser)

Number of alleles fetched