Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38573150delCA2584910301RYR1c.935-27del
c.2332-27del
c.2304-27del
c.13999-27del (n.13999-27del)
c.13984-27del (n.13984-27del)
c.13981-27del (n.13981-27del)
c.13966-27del (n.13966-27del)
c.13996-27del (n.13996-27del)
c.13912-27del (n.13912-27del)
 gnomAD v4
19g.38573150C>ACA2584910303RYR1c.935-27C>A
c.2332-27C>A
c.2304-27C>A
c.13999-27C>A (n.13999-27C>A)
c.13984-27C>A (n.13984-27C>A)
c.13981-27C>A (n.13981-27C>A)
c.13966-27C>A (n.13966-27C>A)
c.13996-27C>A (n.13996-27C>A)
c.13912-27C>A (n.13912-27C>A)
 gnomAD v4
19g.38573150C=CA2335088948RYR1c.935-27C=
c.2332-27C=
c.2304-27C=
c.13999-27C= (n.13999-27C=)
c.13984-27C= (n.13984-27C=)
c.13981-27C= (n.13981-27C=)
c.13966-27C= (n.13966-27C=)
c.13996-27C= (n.13996-27C=)
c.13912-27C= (n.13912-27C=)
19g.38573150C>GCA2584910302RYR1c.935-27C>G
c.2332-27C>G
c.2304-27C>G
c.13999-27C>G (n.13999-27C>G)
c.13984-27C>G (n.13984-27C>G)
c.13981-27C>G (n.13981-27C>G)
c.13966-27C>G (n.13966-27C>G)
c.13996-27C>G (n.13996-27C>G)
c.13912-27C>G (n.13912-27C>G)
 gnomAD v4
19g.38573150C>TCA060737RYR1c.935-27C>T
c.2332-27C>T
c.2304-27C>T
c.13999-27C>T (n.13999-27C>T)
c.13984-27C>T (n.13984-27C>T)
c.13981-27C>T (n.13981-27C>T)
c.13966-27C>T (n.13966-27C>T)
c.13996-27C>T (n.13996-27C>T)
c.13912-27C>T (n.13912-27C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38573151A=CA2335088949RYR1c.935-26A=
c.2332-26A=
c.2304-26A=
c.13999-26A= (n.13999-26A=)
c.13984-26A= (n.13984-26A=)
c.13981-26A= (n.13981-26A=)
c.13966-26A= (n.13966-26A=)
c.13996-26A= (n.13996-26A=)
c.13912-26A= (n.13912-26A=)
19g.38573151A>CCA2335088950RYR1c.935-26A>C
c.2332-26A>C
c.2304-26A>C
c.13999-26A>C (n.13999-26A>C)
c.13984-26A>C (n.13984-26A>C)
c.13981-26A>C (n.13981-26A>C)
c.13966-26A>C (n.13966-26A>C)
c.13996-26A>C (n.13996-26A>C)
c.13912-26A>C (n.13912-26A>C)
 dbSNP
19g.38573152C=CA2335088951RYR1c.935-25C=
c.2332-25C=
c.2304-25C=
c.13999-25C= (n.13999-25C=)
c.13984-25C= (n.13984-25C=)
c.13981-25C= (n.13981-25C=)
c.13966-25C= (n.13966-25C=)
c.13996-25C= (n.13996-25C=)
c.13912-25C= (n.13912-25C=)
19g.38573152C>TCA060733RYR1c.935-25C>T
c.2332-25C>T
c.2304-25C>T
c.13999-25C>T (n.13999-25C>T)
c.13984-25C>T (n.13984-25C>T)
c.13981-25C>T (n.13981-25C>T)
c.13966-25C>T (n.13966-25C>T)
c.13996-25C>T (n.13996-25C>T)
c.13912-25C>T (n.13912-25C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38573153C>TCA081061RYR1c.935-24C>T
c.2332-24C>T
c.2304-24C>T
c.13999-24C>T (n.13999-24C>T)
c.13984-24C>T (n.13984-24C>T)
c.13981-24C>T (n.13981-24C>T)
c.13966-24C>T (n.13966-24C>T)
c.13996-24C>T (n.13996-24C>T)
c.13912-24C>T (n.13912-24C>T)
19g.38573154T>ACA308114682RYR1c.935-23T>A
c.2332-23T>A
c.2304-23T>A
c.13999-23T>A (n.13999-23T>A)
c.13984-23T>A (n.13984-23T>A)
c.13981-23T>A (n.13981-23T>A)
c.13966-23T>A (n.13966-23T>A)
c.13996-23T>A (n.13996-23T>A)
c.13912-23T>A (n.13912-23T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38573154T=CA2335088952RYR1c.935-23T=
c.2332-23T=
c.2304-23T=
c.13999-23T= (n.13999-23T=)
c.13984-23T= (n.13984-23T=)
c.13981-23T= (n.13981-23T=)
c.13966-23T= (n.13966-23T=)
c.13996-23T= (n.13996-23T=)
c.13912-23T= (n.13912-23T=)
19g.38573156T>GCA2736065185RYR1c.935-21T>G
c.2332-21T>G
c.2304-21T>G
c.13999-21T>G (n.13999-21T>G)
c.13984-21T>G (n.13984-21T>G)
c.13981-21T>G (n.13981-21T>G)
c.13966-21T>G (n.13966-21T>G)
c.13996-21T>G (n.13996-21T>G)
c.13912-21T>G (n.13912-21T>G)
 dbSNP
19g.38573158G>ACA060730RYR1c.935-19G>A
c.2332-19G>A
c.2304-19G>A
c.13999-19G>A (n.13999-19G>A)
c.13984-19G>A (n.13984-19G>A)
c.13981-19G>A (n.13981-19G>A)
c.13966-19G>A (n.13966-19G>A)
c.13996-19G>A (n.13996-19G>A)
c.13912-19G>A (n.13912-19G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38573158G=CA2335088953RYR1c.935-19G=
c.2332-19G=
c.2304-19G=
c.13999-19G= (n.13999-19G=)
c.13984-19G= (n.13984-19G=)
c.13981-19G= (n.13981-19G=)
c.13966-19G= (n.13966-19G=)
c.13996-19G= (n.13996-19G=)
c.13912-19G= (n.13912-19G=)
19g.38573158G>TCA2584910304RYR1c.935-19G>T
c.2332-19G>T
c.2304-19G>T
c.13999-19G>T (n.13999-19G>T)
c.13984-19G>T (n.13984-19G>T)
c.13981-19G>T (n.13981-19G>T)
c.13966-19G>T (n.13966-19G>T)
c.13996-19G>T (n.13996-19G>T)
c.13912-19G>T (n.13912-19G>T)
 gnomAD v4
19g.38573158_38573161delinsGCCTCA2335088954RYR1c.935-19_935-16delinsGCCT
c.2332-19_2332-16delinsGCCT
c.2304-19_2304-16delinsGCCT
c.13999-19_13999-16delinsGCCT (n.13999-19_13999-16delinsGCCT)
c.13984-19_13984-16delinsGCCT (n.13984-19_13984-16delinsGCCT)
c.13981-19_13981-16delinsGCCT (n.13981-19_13981-16delinsGCCT)
c.13966-19_13966-16delinsGCCT (n.13966-19_13966-16delinsGCCT)
c.13996-19_13996-16delinsGCCT (n.13996-19_13996-16delinsGCCT)
c.13912-19_13912-16delinsGCCT (n.13912-19_13912-16delinsGCCT)
19g.38573159C>TCA2576772271RYR1c.935-18C>T
c.2332-18C>T
c.2304-18C>T
c.13999-18C>T (n.13999-18C>T)
c.13984-18C>T (n.13984-18C>T)
c.13981-18C>T (n.13981-18C>T)
c.13966-18C>T (n.13966-18C>T)
c.13996-18C>T (n.13996-18C>T)
c.13912-18C>T (n.13912-18C>T)
 gnomAD v4
19g.38573164_38573166delCA882063013RYR1c.935-13_935-11del
c.2332-13_2332-11del
c.2304-13_2304-11del
c.13999-13_13999-11del (n.13999-13_13999-11del)
c.13984-13_13984-11del (n.13984-13_13984-11del)
c.13981-13_13981-11del (n.13981-13_13981-11del)
c.13966-13_13966-11del (n.13966-13_13966-11del)
c.13996-13_13996-11del (n.13996-13_13996-11del)
c.13912-13_13912-11del (n.13912-13_13912-11del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38573160C=CA2335088955RYR1c.935-17C=
c.2332-17C=
c.2304-17C=
c.13999-17C= (n.13999-17C=)
c.13984-17C= (n.13984-17C=)
c.13981-17C= (n.13981-17C=)
c.13966-17C= (n.13966-17C=)
c.13996-17C= (n.13996-17C=)
c.13912-17C= (n.13912-17C=)
19g.38573160C>TCA2335088956RYR1c.935-17C>T
c.2332-17C>T
c.2304-17C>T
c.13999-17C>T (n.13999-17C>T)
c.13984-17C>T (n.13984-17C>T)
c.13981-17C>T (n.13981-17C>T)
c.13966-17C>T (n.13966-17C>T)
c.13996-17C>T (n.13996-17C>T)
c.13912-17C>T (n.13912-17C>T)
 dbSNP gnomAD v4
19g.38573162C>TCA2584910305RYR1c.935-15C>T
c.2332-15C>T
c.2304-15C>T
c.13999-15C>T (n.13999-15C>T)
c.13984-15C>T (n.13984-15C>T)
c.13981-15C>T (n.13981-15C>T)
c.13966-15C>T (n.13966-15C>T)
c.13996-15C>T (n.13996-15C>T)
c.13912-15C>T (n.13912-15C>T)
 ClinVar gnomAD v4
19g.38573163C>TCA2584910306RYR1c.935-14C>T
c.2332-14C>T
c.2304-14C>T
c.13999-14C>T (n.13999-14C>T)
c.13984-14C>T (n.13984-14C>T)
c.13981-14C>T (n.13981-14C>T)
c.13966-14C>T (n.13966-14C>T)
c.13996-14C>T (n.13996-14C>T)
c.13912-14C>T (n.13912-14C>T)
 ClinVar gnomAD v4
19g.38573165C>TCA2584910307RYR1c.935-12C>T
c.2332-12C>T
c.2304-12C>T
c.13999-12C>T (n.13999-12C>T)
c.13984-12C>T (n.13984-12C>T)
c.13981-12C>T (n.13981-12C>T)
c.13966-12C>T (n.13966-12C>T)
c.13996-12C>T (n.13996-12C>T)
c.13912-12C>T (n.13912-12C>T)
 ClinVar gnomAD v4
19g.38573166C=CA2335088957RYR1c.935-11C=
c.2332-11C=
c.2304-11C=
c.13999-11C= (n.13999-11C=)
c.13984-11C= (n.13984-11C=)
c.13981-11C= (n.13981-11C=)
c.13966-11C= (n.13966-11C=)
c.13996-11C= (n.13996-11C=)
c.13912-11C= (n.13912-11C=)
19g.38573166C>TCA060728RYR1c.935-11C>T
c.2332-11C>T
c.2304-11C>T
c.13999-11C>T (n.13999-11C>T)
c.13984-11C>T (n.13984-11C>T)
c.13981-11C>T (n.13981-11C>T)
c.13966-11C>T (n.13966-11C>T)
c.13996-11C>T (n.13996-11C>T)
c.13912-11C>T (n.13912-11C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38573167C>TCA2584910308RYR1c.935-10C>T
c.2332-10C>T
c.2304-10C>T
c.13999-10C>T (n.13999-10C>T)
c.13984-10C>T (n.13984-10C>T)
c.13981-10C>T (n.13981-10C>T)
c.13966-10C>T (n.13966-10C>T)
c.13996-10C>T (n.13996-10C>T)
c.13912-10C>T (n.13912-10C>T)
 gnomAD v4
19g.38573168A=CA2335088958RYR1c.935-9A=
c.2332-9A=
c.2304-9A=
c.13999-9A= (n.13999-9A=)
c.13984-9A= (n.13984-9A=)
c.13981-9A= (n.13981-9A=)
c.13966-9A= (n.13966-9A=)
c.13996-9A= (n.13996-9A=)
c.13912-9A= (n.13912-9A=)
19g.38573168A>GCA2335088959RYR1c.935-9A>G
c.2332-9A>G
c.2304-9A>G
c.13999-9A>G (n.13999-9A>G)
c.13984-9A>G (n.13984-9A>G)
c.13981-9A>G (n.13981-9A>G)
c.13966-9A>G (n.13966-9A>G)
c.13996-9A>G (n.13996-9A>G)
c.13912-9A>G (n.13912-9A>G)
 dbSNP gnomAD v4
19g.38573169C=CA2335088960RYR1c.935-8C=
c.2332-8C=
c.2304-8C=
c.13999-8C= (n.13999-8C=)
c.13984-8C= (n.13984-8C=)
c.13981-8C= (n.13981-8C=)
c.13966-8C= (n.13966-8C=)
c.13996-8C= (n.13996-8C=)
c.13912-8C= (n.13912-8C=)
19g.38573169C>TCA081058RYR1c.935-8C>T
c.2332-8C>T
c.2304-8C>T
c.13999-8C>T (n.13999-8C>T)
c.13984-8C>T (n.13984-8C>T)
c.13981-8C>T (n.13981-8C>T)
c.13966-8C>T (n.13966-8C>T)
c.13996-8C>T (n.13996-8C>T)
c.13912-8C>T (n.13912-8C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.38573171A>CCA2584910309RYR1c.935-6A>C
c.2332-6A>C
c.2304-6A>C
c.13999-6A>C (n.13999-6A>C)
c.13984-6A>C (n.13984-6A>C)
c.13981-6A>C (n.13981-6A>C)
c.13966-6A>C (n.13966-6A>C)
c.13996-6A>C (n.13996-6A>C)
c.13912-6A>C (n.13912-6A>C)
 gnomAD v4
19g.38573171A>GCA2584910310RYR1c.935-6A>G
c.2332-6A>G
c.2304-6A>G
c.13999-6A>G (n.13999-6A>G)
c.13984-6A>G (n.13984-6A>G)
c.13981-6A>G (n.13981-6A>G)
c.13966-6A>G (n.13966-6A>G)
c.13996-6A>G (n.13996-6A>G)
c.13912-6A>G (n.13912-6A>G)
 gnomAD v4
19g.38573172T>CCA2576772272RYR1c.935-5T>C
c.2332-5T>C
c.2304-5T>C
c.13999-5T>C (n.13999-5T>C)
c.13984-5T>C (n.13984-5T>C)
c.13981-5T>C (n.13981-5T>C)
c.13966-5T>C (n.13966-5T>C)
c.13996-5T>C (n.13996-5T>C)
c.13912-5T>C (n.13912-5T>C)
19g.38573173C>TCA2739276786RYR1c.935-4C>T
c.2332-4C>T
c.2304-4C>T
c.13999-4C>T (n.13999-4C>T)
c.13984-4C>T (n.13984-4C>T)
c.13981-4C>T (n.13981-4C>T)
c.13966-4C>T (n.13966-4C>T)
c.13996-4C>T (n.13996-4C>T)
c.13912-4C>T (n.13912-4C>T)
 ClinVar
19g.38573174C=CA2335088961RYR1c.935-3C=
c.2332-3C=
c.2304-3C=
c.13999-3C= (n.13999-3C=)
c.13984-3C= (n.13984-3C=)
c.13981-3C= (n.13981-3C=)
c.13966-3C= (n.13966-3C=)
c.13996-3C= (n.13996-3C=)
c.13912-3C= (n.13912-3C=)
19g.38573174C>GCA632875334RYR1c.935-3C>G
c.2332-3C>G
c.2304-3C>G
c.13999-3C>G (n.13999-3C>G)
c.13984-3C>G (n.13984-3C>G)
c.13981-3C>G (n.13981-3C>G)
c.13966-3C>G (n.13966-3C>G)
c.13996-3C>G (n.13996-3C>G)
c.13912-3C>G (n.13912-3C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38573175A=CA2335088962RYR1c.935-2A=
c.2332-2A=
c.2304-2A=
c.13999-2A= (n.13999-2A=)
c.13984-2A= (n.13984-2A=)
c.13981-2A= (n.13981-2A=)
c.13966-2A= (n.13966-2A=)
c.13996-2A= (n.13996-2A=)
c.13912-2A= (n.13912-2A=)
19g.38573175A>CCA405681761RYR1c.935-2A>C
c.2332-2A>C
c.2304-2A>C
c.13999-2A>C (n.13999-2A>C)
c.13984-2A>C (n.13984-2A>C)
c.13981-2A>C (n.13981-2A>C)
c.13966-2A>C (n.13966-2A>C)
c.13996-2A>C (n.13996-2A>C)
c.13912-2A>C (n.13912-2A>C)
19g.38573175A>GCA405681757RYR1c.935-2A>G
c.2332-2A>G
c.2304-2A>G
c.13999-2A>G (n.13999-2A>G)
c.13984-2A>G (n.13984-2A>G)
c.13981-2A>G (n.13981-2A>G)
c.13966-2A>G (n.13966-2A>G)
c.13996-2A>G (n.13996-2A>G)
c.13912-2A>G (n.13912-2A>G)
 dbSNP gnomAD v4
19g.38573175A>TCA405681760RYR1c.935-2A>T
c.2332-2A>T
c.2304-2A>T
c.13999-2A>T (n.13999-2A>T)
c.13984-2A>T (n.13984-2A>T)
c.13981-2A>T (n.13981-2A>T)
c.13966-2A>T (n.13966-2A>T)
c.13996-2A>T (n.13996-2A>T)
c.13912-2A>T (n.13912-2A>T)
19g.38573176G>ACA405681765RYR1c.935-1G>A
c.2332-1G>A
c.2304-1G>A
c.13999-1G>A (n.13999-1G>A)
c.13984-1G>A (n.13984-1G>A)
c.13981-1G>A (n.13981-1G>A)
c.13966-1G>A (n.13966-1G>A)
c.13996-1G>A (n.13996-1G>A)
c.13912-1G>A (n.13912-1G>A)
 gnomAD v4
19g.38573176G>CCA405681767RYR1c.935-1G>C
c.2332-1G>C
c.2304-1G>C
c.13999-1G>C (n.13999-1G>C)
c.13984-1G>C (n.13984-1G>C)
c.13981-1G>C (n.13981-1G>C)
c.13966-1G>C (n.13966-1G>C)
c.13996-1G>C (n.13996-1G>C)
c.13912-1G>C (n.13912-1G>C)
19g.38573176G>TCA405681769RYR1c.935-1G>T
c.2332-1G>T
c.2304-1G>T
c.13999-1G>T (n.13999-1G>T)
c.13984-1G>T (n.13984-1G>T)
c.13981-1G>T (n.13981-1G>T)
c.13966-1G>T (n.13966-1G>T)
c.13996-1G>T (n.13996-1G>T)
c.13912-1G>T (n.13912-1G>T)
19g.38573177G>ACA405681770RYR1c.935G>A
c.2332G>A
c.2304G>A
c.13999G>A (p.Val4667Met)
c.13984G>A (p.Val4662Met)
c.13981G>A (p.Val4661Met)
c.13966G>A (p.Val4656Met)
c.13996G>A (p.Val4666Met)
c.13912G>A (p.Val4638Met)
 gnomAD v4
19g.38573177G>CCA060755RYR1c.935G>C
c.2332G>C
c.2304G>C
c.13999G>C (p.Val4667Leu)
c.13984G>C (p.Val4662Leu)
c.13981G>C (p.Val4661Leu)
c.13966G>C (p.Val4656Leu)
c.13996G>C (p.Val4666Leu)
c.13912G>C (p.Val4638Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38573177G=CA2335088963RYR1c.935G=
c.2332G=
c.2304G=
c.13999G= (p.Val4667=)
c.13984G= (p.Val4662=)
c.13981G= (p.Val4661=)
c.13966G= (p.Val4656=)
c.13996G= (p.Val4666=)
c.13912G= (p.Val4638=)
19g.38573177G>TCA405681774RYR1c.935G>T
c.2332G>T
c.2304G>T
c.13999G>T (p.Val4667Leu)
c.13984G>T (p.Val4662Leu)
c.13981G>T (p.Val4661Leu)
c.13966G>T (p.Val4656Leu)
c.13996G>T (p.Val4666Leu)
c.13912G>T (p.Val4638Leu)
19g.38573178T>ACA405681779RYR1c.936T>A
c.2333T>A
c.2305T>A
c.14000T>A (p.Val4667Glu)
c.13985T>A (p.Val4662Glu)
c.13982T>A (p.Val4661Glu)
c.13967T>A (p.Val4656Glu)
c.13997T>A (p.Val4666Glu)
c.13913T>A (p.Val4638Glu)
19g.38573178T>CCA405681781RYR1c.936T>C
c.2333T>C
c.2305T>C
c.14000T>C (p.Val4667Ala)
c.13985T>C (p.Val4662Ala)
c.13982T>C (p.Val4661Ala)
c.13967T>C (p.Val4656Ala)
c.13997T>C (p.Val4666Ala)
c.13913T>C (p.Val4638Ala)
19g.38573178T>GCA405681783RYR1c.936T>G
c.2333T>G
c.2305T>G
c.14000T>G (p.Val4667Gly)
c.13985T>G (p.Val4662Gly)
c.13982T>G (p.Val4661Gly)
c.13967T>G (p.Val4656Gly)
c.13997T>G (p.Val4666Gly)
c.13913T>G (p.Val4638Gly)
19g.38573179G>ACA507245118RYR1c.937G>A
c.2334G>A
c.2306G>A
c.14001G>A (p.Val4667=)
c.13986G>A (p.Val4662=)
c.13983G>A (p.Val4661=)
c.13968G>A (p.Val4656=)
c.13998G>A (p.Val4666=)
c.13914G>A (p.Val4638=)
19g.38573179G>CCA507245119RYR1c.937G>C
c.2334G>C
c.2306G>C
c.14001G>C (p.Val4667=)
c.13986G>C (p.Val4662=)
c.13983G>C (p.Val4661=)
c.13968G>C (p.Val4656=)
c.13998G>C (p.Val4666=)
c.13914G>C (p.Val4638=)
19g.38573179G=CA2335088964RYR1c.937G=
c.2334G=
c.2306G=
c.14001G= (p.Val4667=)
c.13986G= (p.Val4662=)
c.13983G= (p.Val4661=)
c.13968G= (p.Val4656=)
c.13998G= (p.Val4666=)
c.13914G= (p.Val4638=)
19g.38573179G>TCA060758RYR1c.937G>T
c.2334G>T
c.2306G>T
c.14001G>T (p.Val4667=)
c.13986G>T (p.Val4662=)
c.13983G>T (p.Val4661=)
c.13968G>T (p.Val4656=)
c.13998G>T (p.Val4666=)
c.13914G>T (p.Val4638=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38573179_38573180delinsGCCA2335088965RYR1c.937_938delinsGC
c.2334_2335delinsGC
c.2306_2307delinsGC
c.14001_14002delinsGC (p.Val4667=)
c.13986_13987delinsGC (p.Val4662=)
c.13983_13984delinsGC (p.Val4661=)
c.13968_13969delinsGC (p.Val4656=)
c.13998_13999delinsGC (p.Val4666=)
c.13914_13915delinsGC (p.Val4638=)
19g.38573179_38573180delinsTTCA1139666441RYR1c.937_938delinsTT
c.2334_2335delinsTT
c.2306_2307delinsTT
c.14001_14002delinsTT (p.Pro4668Ser)
c.13986_13987delinsTT (p.Pro4663Ser)
c.13983_13984delinsTT (p.Pro4662Ser)
c.13968_13969delinsTT (p.Pro4657Ser)
c.13998_13999delinsTT (p.Pro4667Ser)
c.13914_13915delinsTT (p.Pro4639Ser)
 ClinVar dbSNP
19g.38573180C>ACA405681793RYR1c.938C>A
c.2335C>A
c.2307C>A
c.14002C>A (p.Pro4668Thr)
c.13987C>A (p.Pro4663Thr)
c.13984C>A (p.Pro4662Thr)
c.13969C>A (p.Pro4657Thr)
c.13999C>A (p.Pro4667Thr)
c.13915C>A (p.Pro4639Thr)
19g.38573180C=CA2335088966RYR1c.938C=
c.2335C=
c.2307C=
c.14002C= (p.Pro4668=)
c.13987C= (p.Pro4663=)
c.13984C= (p.Pro4662=)
c.13969C= (p.Pro4657=)
c.13999C= (p.Pro4667=)
c.13915C= (p.Pro4639=)
19g.38573180C>GCA405681790RYR1c.938C>G
c.2335C>G
c.2307C>G
c.14002C>G (p.Pro4668Ala)
c.13987C>G (p.Pro4663Ala)
c.13984C>G (p.Pro4662Ala)
c.13969C>G (p.Pro4657Ala)
c.13999C>G (p.Pro4667Ala)
c.13915C>G (p.Pro4639Ala)
19g.38573180C>TCA024099RYR1c.938C>T
c.2335C>T
c.2307C>T
c.14002C>T (p.Pro4668Ser)
c.13987C>T (p.Pro4663Ser)
c.13984C>T (p.Pro4662Ser)
c.13969C>T (p.Pro4657Ser)
c.13999C>T (p.Pro4667Ser)
c.13915C>T (p.Pro4639Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38573181C>ACA405681794RYR1c.939C>A
c.2336C>A
c.2308C>A
c.14003C>A (p.Pro4668His)
c.13988C>A (p.Pro4663His)
c.13985C>A (p.Pro4662His)
c.13970C>A (p.Pro4657His)
c.14000C>A (p.Pro4667His)
c.13916C>A (p.Pro4639His)
19g.38573181C=CA2335088967RYR1c.939C=
c.2336C=
c.2308C=
c.14003C= (p.Pro4668=)
c.13988C= (p.Pro4663=)
c.13985C= (p.Pro4662=)
c.13970C= (p.Pro4657=)
c.14000C= (p.Pro4667=)
c.13916C= (p.Pro4639=)
19g.38573181C>GCA405681800RYR1c.939C>G
c.2336C>G
c.2308C>G
c.14003C>G (p.Pro4668Arg)
c.13988C>G (p.Pro4663Arg)
c.13985C>G (p.Pro4662Arg)
c.13970C>G (p.Pro4657Arg)
c.14000C>G (p.Pro4667Arg)
c.13916C>G (p.Pro4639Arg)
19g.38573181C>TCA405681802RYR1c.939C>T
c.2336C>T
c.2308C>T
c.14003C>T (p.Pro4668Leu)
c.13988C>T (p.Pro4663Leu)
c.13985C>T (p.Pro4662Leu)
c.13970C>T (p.Pro4657Leu)
c.14000C>T (p.Pro4667Leu)
c.13916C>T (p.Pro4639Leu)
 dbSNP gnomAD v2
19g.38573182C>ACA507245121RYR1c.940C>A
c.2337C>A
c.2309C>A
c.14004C>A (p.Pro4668=)
c.13989C>A (p.Pro4663=)
c.13986C>A (p.Pro4662=)
c.13971C>A (p.Pro4657=)
c.14001C>A (p.Pro4667=)
c.13917C>A (p.Pro4639=)
 gnomAD v4
19g.38573182C=CA2335088968RYR1c.940C=
c.2337C=
c.2309C=
c.14004C= (p.Pro4668=)
c.13989C= (p.Pro4663=)
c.13986C= (p.Pro4662=)
c.13971C= (p.Pro4657=)
c.14001C= (p.Pro4667=)
c.13917C= (p.Pro4639=)
19g.38573182C>GCA507245122RYR1c.940C>G
c.2337C>G
c.2309C>G
c.14004C>G (p.Pro4668=)
c.13989C>G (p.Pro4663=)
c.13986C>G (p.Pro4662=)
c.13971C>G (p.Pro4657=)
c.14001C>G (p.Pro4667=)
c.13917C>G (p.Pro4639=)
19g.38573182C>TCA081069RYR1c.940C>T
c.2337C>T
c.2309C>T
c.14004C>T (p.Pro4668=)
c.13989C>T (p.Pro4663=)
c.13986C>T (p.Pro4662=)
c.13971C>T (p.Pro4657=)
c.14001C>T (p.Pro4667=)
c.13917C>T (p.Pro4639=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38573183C>ACA405681805RYR1c.941C>A
c.2338C>A
c.2310C>A
c.14005C>A (p.Leu4669Met)
c.13990C>A (p.Leu4664Met)
c.13987C>A (p.Leu4663Met)
c.13972C>A (p.Leu4658Met)
c.14002C>A (p.Leu4668Met)
c.13918C>A (p.Leu4640Met)
 COSMIC
19g.38573183C>GCA405681806RYR1c.941C>G
c.2338C>G
c.2310C>G
c.14005C>G (p.Leu4669Val)
c.13990C>G (p.Leu4664Val)
c.13987C>G (p.Leu4663Val)
c.13972C>G (p.Leu4658Val)
c.14002C>G (p.Leu4668Val)
c.13918C>G (p.Leu4640Val)
19g.38573183C>TCA081070RYR1c.941C>T
c.2338C>T
c.2310C>T
c.14005C>T (p.Leu4669=)
c.13990C>T (p.Leu4664=)
c.13987C>T (p.Leu4663=)
c.13972C>T (p.Leu4658=)
c.14002C>T (p.Leu4668=)
c.13918C>T (p.Leu4640=)
 gnomAD v4
19g.38573183_38573184delinsCTCA2335088969RYR1c.941_942delinsCT
c.2338_2339delinsCT
c.2310_2311delinsCT
c.14005_14006delinsCT (p.Leu4669=)
c.13990_13991delinsCT (p.Leu4664=)
c.13987_13988delinsCT (p.Leu4663=)
c.13972_13973delinsCT (p.Leu4658=)
c.14002_14003delinsCT (p.Leu4668=)
c.13918_13919delinsCT (p.Leu4640=)
19g.38573184delCA060767RYR1c.942del
c.2339del
c.2311del
c.14006del (p.Leu4669ArgfsTer2)
c.13991del (p.Leu4664ArgfsTer2)
c.13988del (p.Leu4663ArgfsTer2)
c.13973del (p.Leu4658ArgfsTer2)
c.14003del (p.Leu4668ArgfsTer2)
c.13919del (p.Leu4640ArgfsTer2)
 dbSNP ExAC gnomAD v2
19g.38573184T>ACA405681807RYR1c.942T>A
c.2339T>A
c.2311T>A
c.14006T>A (p.Leu4669Gln)
c.13991T>A (p.Leu4664Gln)
c.13988T>A (p.Leu4663Gln)
c.13973T>A (p.Leu4658Gln)
c.14003T>A (p.Leu4668Gln)
c.13919T>A (p.Leu4640Gln)
19g.38573184T>CCA405681808RYR1c.942T>C
c.2339T>C
c.2311T>C
c.14006T>C (p.Leu4669Pro)
c.13991T>C (p.Leu4664Pro)
c.13988T>C (p.Leu4663Pro)
c.13973T>C (p.Leu4658Pro)
c.14003T>C (p.Leu4668Pro)
c.13919T>C (p.Leu4640Pro)
19g.38573184T>GCA405681811RYR1c.942T>G
c.2339T>G
c.2311T>G
c.14006T>G (p.Leu4669Arg)
c.13991T>G (p.Leu4664Arg)
c.13988T>G (p.Leu4663Arg)
c.13973T>G (p.Leu4658Arg)
c.14003T>G (p.Leu4668Arg)
c.13919T>G (p.Leu4640Arg)
19g.38573185G>ACA507245123RYR1c.943G>A
c.2340G>A
c.2312G>A
c.14007G>A (p.Leu4669=)
c.13992G>A (p.Leu4664=)
c.13989G>A (p.Leu4663=)
c.13974G>A (p.Leu4658=)
c.14004G>A (p.Leu4668=)
c.13920G>A (p.Leu4640=)
 ClinVar dbSNP gnomAD v4
19g.38573185G>CCA507245124RYR1c.943G>C
c.2340G>C
c.2312G>C
c.14007G>C (p.Leu4669=)
c.13992G>C (p.Leu4664=)
c.13989G>C (p.Leu4663=)
c.13974G>C (p.Leu4658=)
c.14004G>C (p.Leu4668=)
c.13920G>C (p.Leu4640=)
19g.38573185G=CA2335088970RYR1c.943G=
c.2340G=
c.2312G=
c.14007G= (p.Leu4669=)
c.13992G= (p.Leu4664=)
c.13989G= (p.Leu4663=)
c.13974G= (p.Leu4658=)
c.14004G= (p.Leu4668=)
c.13920G= (p.Leu4640=)
19g.38573185G>TCA507245125RYR1c.943G>T
c.2340G>T
c.2312G>T
c.14007G>T (p.Leu4669=)
c.13992G>T (p.Leu4664=)
c.13989G>T (p.Leu4663=)
c.13974G>T (p.Leu4658=)
c.14004G>T (p.Leu4668=)
c.13920G>T (p.Leu4640=)
19g.38573186G>ACA405681813RYR1c.944G>A
c.2341G>A
c.2313G>A
c.14008G>A (p.Val4670Ile)
c.13993G>A (p.Val4665Ile)
c.13990G>A (p.Val4664Ile)
c.13975G>A (p.Val4659Ile)
c.14005G>A (p.Val4669Ile)
c.13921G>A (p.Val4641Ile)
 COSMIC
19g.38573186G>CCA405681815RYR1c.944G>C
c.2341G>C
c.2313G>C
c.14008G>C (p.Val4670Leu)
c.13993G>C (p.Val4665Leu)
c.13990G>C (p.Val4664Leu)
c.13975G>C (p.Val4659Leu)
c.14005G>C (p.Val4669Leu)
c.13921G>C (p.Val4641Leu)
19g.38573186G>TCA405681816RYR1c.944G>T
c.2341G>T
c.2313G>T
c.14008G>T (p.Val4670Leu)
c.13993G>T (p.Val4665Leu)
c.13990G>T (p.Val4664Leu)
c.13975G>T (p.Val4659Leu)
c.14005G>T (p.Val4669Leu)
c.13921G>T (p.Val4641Leu)
19g.38573187delCA081071RYR1c.945del
c.2342del
c.2314del
c.14009del (p.Val4670GlufsTer29)
c.13994del (p.Val4665GlufsTer29)
c.13991del (p.Val4664GlufsTer29)
c.13976del (p.Val4659GlufsTer29)
c.14006del (p.Val4669GlufsTer29)
c.13922del (p.Val4641GlufsTer29)
19g.38573187T>ACA405681822RYR1c.945T>A
c.2342T>A
c.2314T>A
c.14009T>A (p.Val4670Glu)
c.13994T>A (p.Val4665Glu)
c.13991T>A (p.Val4664Glu)
c.13976T>A (p.Val4659Glu)
c.14006T>A (p.Val4669Glu)
c.13922T>A (p.Val4641Glu)
19g.38573187T>CCA405681836RYR1c.945T>C
c.2342T>C
c.2314T>C
c.14009T>C (p.Val4670Ala)
c.13994T>C (p.Val4665Ala)
c.13991T>C (p.Val4664Ala)
c.13976T>C (p.Val4659Ala)
c.14006T>C (p.Val4669Ala)
c.13922T>C (p.Val4641Ala)
19g.38573187T>GCA405681820RYR1c.945T>G
c.2342T>G
c.2314T>G
c.14009T>G (p.Val4670Gly)
c.13994T>G (p.Val4665Gly)
c.13991T>G (p.Val4664Gly)
c.13976T>G (p.Val4659Gly)
c.14006T>G (p.Val4669Gly)
c.13922T>G (p.Val4641Gly)
19g.38573188A>CCA507245126RYR1c.946A>C
c.2343A>C
c.2315A>C
c.14010A>C (p.Val4670=)
c.13995A>C (p.Val4665=)
c.13992A>C (p.Val4664=)
c.13977A>C (p.Val4659=)
c.14007A>C (p.Val4669=)
c.13923A>C (p.Val4641=)
19g.38573188A>GCA507245127RYR1c.946A>G
c.2343A>G
c.2315A>G
c.14010A>G (p.Val4670=)
c.13995A>G (p.Val4665=)
c.13992A>G (p.Val4664=)
c.13977A>G (p.Val4659=)
c.14007A>G (p.Val4669=)
c.13923A>G (p.Val4641=)
19g.38573188A>TCA507245128RYR1c.946A>T
c.2343A>T
c.2315A>T
c.14010A>T (p.Val4670=)
c.13995A>T (p.Val4665=)
c.13992A>T (p.Val4664=)
c.13977A>T (p.Val4659=)
c.14007A>T (p.Val4669=)
c.13923A>T (p.Val4641=)
19g.38573189A>CCA405681842RYR1c.947A>C
c.2344A>C
c.2316A>C
c.14011A>C (p.Ile4671Leu)
c.13996A>C (p.Ile4666Leu)
c.13993A>C (p.Ile4665Leu)
c.13978A>C (p.Ile4660Leu)
c.14008A>C (p.Ile4670Leu)
c.13924A>C (p.Ile4642Leu)
19g.38573189A>GCA405681839RYR1c.947A>G
c.2344A>G
c.2316A>G
c.14011A>G (p.Ile4671Val)
c.13996A>G (p.Ile4666Val)
c.13993A>G (p.Ile4665Val)
c.13978A>G (p.Ile4660Val)
c.14008A>G (p.Ile4670Val)
c.13924A>G (p.Ile4642Val)
19g.38573189A>TCA405681843RYR1c.947A>T
c.2344A>T
c.2316A>T
c.14011A>T (p.Ile4671Phe)
c.13996A>T (p.Ile4666Phe)
c.13993A>T (p.Ile4665Phe)
c.13978A>T (p.Ile4660Phe)
c.14008A>T (p.Ile4670Phe)
c.13924A>T (p.Ile4642Phe)
19g.38573190T>ACA405681844RYR1c.948T>A
c.2345T>A
c.2317T>A
c.14012T>A (p.Ile4671Asn)
c.13997T>A (p.Ile4666Asn)
c.13994T>A (p.Ile4665Asn)
c.13979T>A (p.Ile4660Asn)
c.14009T>A (p.Ile4670Asn)
c.13925T>A (p.Ile4642Asn)
19g.38573190T>CCA405681845RYR1c.948T>C
c.2345T>C
c.2317T>C
c.14012T>C (p.Ile4671Thr)
c.13997T>C (p.Ile4666Thr)
c.13994T>C (p.Ile4665Thr)
c.13979T>C (p.Ile4660Thr)
c.14009T>C (p.Ile4670Thr)
c.13925T>C (p.Ile4642Thr)
19g.38573190T>GCA405681846RYR1c.948T>G
c.2345T>G
c.2317T>G
c.14012T>G (p.Ile4671Ser)
c.13997T>G (p.Ile4666Ser)
c.13994T>G (p.Ile4665Ser)
c.13979T>G (p.Ile4660Ser)
c.14009T>G (p.Ile4670Ser)
c.13925T>G (p.Ile4642Ser)
19g.38573191C>ACA507245129RYR1c.949C>A
c.2346C>A
c.2318C>A
c.14013C>A (p.Ile4671=)
c.13998C>A (p.Ile4666=)
c.13995C>A (p.Ile4665=)
c.13980C>A (p.Ile4660=)
c.14010C>A (p.Ile4670=)
c.13926C>A (p.Ile4642=)
19g.38573191C=CA2335088971RYR1c.949C=
c.2346C=
c.2318C=
c.14013C= (p.Ile4671=)
c.13998C= (p.Ile4666=)
c.13995C= (p.Ile4665=)
c.13980C= (p.Ile4660=)
c.14010C= (p.Ile4670=)
c.13926C= (p.Ile4642=)
19g.38573191C>GCA405681847RYR1c.949C>G
c.2346C>G
c.2318C>G
c.14013C>G (p.Ile4671Met)
c.13998C>G (p.Ile4666Met)
c.13995C>G (p.Ile4665Met)
c.13980C>G (p.Ile4660Met)
c.14010C>G (p.Ile4670Met)
c.13926C>G (p.Ile4642Met)
19g.38573191C>TCA060768RYR1c.949C>T
c.2346C>T
c.2318C>T
c.14013C>T (p.Ile4671=)
c.13998C>T (p.Ile4666=)
c.13995C>T (p.Ile4665=)
c.13980C>T (p.Ile4660=)
c.14010C>T (p.Ile4670=)
c.13926C>T (p.Ile4642=)
 ClinVar dbSNP ExAC gnomAD v2
19g.38573192T>ACA405681865RYR1c.950T>A
c.2347T>A
c.2319T>A
c.14014T>A (p.Phe4672Ile)
c.13999T>A (p.Phe4667Ile)
c.13996T>A (p.Phe4666Ile)
c.13981T>A (p.Phe4661Ile)
c.14011T>A (p.Phe4671Ile)
c.13927T>A (p.Phe4643Ile)
19g.38573192T>CCA060776RYR1c.950T>C
c.2347T>C
c.2319T>C
c.14014T>C (p.Phe4672Leu)
c.13999T>C (p.Phe4667Leu)
c.13996T>C (p.Phe4666Leu)
c.13981T>C (p.Phe4661Leu)
c.14011T>C (p.Phe4671Leu)
c.13927T>C (p.Phe4643Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38573192T>GCA405681879RYR1c.950T>G
c.2347T>G
c.2319T>G
c.14014T>G (p.Phe4672Val)
c.13999T>G (p.Phe4667Val)
c.13996T>G (p.Phe4666Val)
c.13981T>G (p.Phe4661Val)
c.14011T>G (p.Phe4671Val)
c.13927T>G (p.Phe4643Val)
19g.38573192T=CA2335088972RYR1c.950T=
c.2347T=
c.2319T=
c.14014T= (p.Phe4672=)
c.13999T= (p.Phe4667=)
c.13996T= (p.Phe4666=)
c.13981T= (p.Phe4661=)
c.14011T= (p.Phe4671=)
c.13927T= (p.Phe4643=)
19g.38573193T>ACA405681881RYR1c.951T>A
c.2348T>A
c.2320T>A
c.14015T>A (p.Phe4672Tyr)
c.14000T>A (p.Phe4667Tyr)
c.13997T>A (p.Phe4666Tyr)
c.13982T>A (p.Phe4661Tyr)
c.14012T>A (p.Phe4671Tyr)
c.13928T>A (p.Phe4643Tyr)
19g.38573193T>CCA405681883RYR1c.951T>C
c.2348T>C
c.2320T>C
c.14015T>C (p.Phe4672Ser)
c.14000T>C (p.Phe4667Ser)
c.13997T>C (p.Phe4666Ser)
c.13982T>C (p.Phe4661Ser)
c.14012T>C (p.Phe4671Ser)
c.13928T>C (p.Phe4643Ser)
19g.38573193T>GCA405681885RYR1c.951T>G
c.2348T>G
c.2320T>G
c.14015T>G (p.Phe4672Cys)
c.14000T>G (p.Phe4667Cys)
c.13997T>G (p.Phe4666Cys)
c.13982T>G (p.Phe4661Cys)
c.14012T>G (p.Phe4671Cys)
c.13928T>G (p.Phe4643Cys)
19g.38573194T>ACA405681886RYR1c.952T>A
c.2349T>A
c.2321T>A
c.14016T>A (p.Phe4672Leu)
c.14001T>A (p.Phe4667Leu)
c.13998T>A (p.Phe4666Leu)
c.13983T>A (p.Phe4661Leu)
c.14013T>A (p.Phe4671Leu)
c.13929T>A (p.Phe4643Leu)
 ClinVar dbSNP gnomAD v4
19g.38573194T>CCA507245130RYR1c.952T>C
c.2349T>C
c.2321T>C
c.14016T>C (p.Phe4672=)
c.14001T>C (p.Phe4667=)
c.13998T>C (p.Phe4666=)
c.13983T>C (p.Phe4661=)
c.14013T>C (p.Phe4671=)
c.13929T>C (p.Phe4643=)
19g.38573194T>GCA405681887RYR1c.952T>G
c.2349T>G
c.2321T>G
c.14016T>G (p.Phe4672Leu)
c.14001T>G (p.Phe4667Leu)
c.13998T>G (p.Phe4666Leu)
c.13983T>G (p.Phe4661Leu)
c.14013T>G (p.Phe4671Leu)
c.13929T>G (p.Phe4643Leu)
19g.38573194T=CA2335088973RYR1c.952T=
c.2349T=
c.2321T=
c.14016T= (p.Phe4672=)
c.14001T= (p.Phe4667=)
c.13998T= (p.Phe4666=)
c.13983T= (p.Phe4661=)
c.14013T= (p.Phe4671=)
c.13929T= (p.Phe4643=)
19g.38573195A>CCA405681896RYR1c.953A>C
c.2350A>C
c.2322A>C
c.14017A>C (p.Lys4673Gln)
c.14002A>C (p.Lys4668Gln)
c.13999A>C (p.Lys4667Gln)
c.13984A>C (p.Lys4662Gln)
c.14014A>C (p.Lys4672Gln)
c.13930A>C (p.Lys4644Gln)
19g.38573195A>GCA405681893RYR1c.953A>G
c.2350A>G
c.2322A>G
c.14017A>G (p.Lys4673Glu)
c.14002A>G (p.Lys4668Glu)
c.13999A>G (p.Lys4667Glu)
c.13984A>G (p.Lys4662Glu)
c.14014A>G (p.Lys4672Glu)
c.13930A>G (p.Lys4644Glu)
19g.38573195A>TCA405681890RYR1c.953A>T
c.2350A>T
c.2322A>T
c.14017A>T (p.Lys4673Ter)
c.14002A>T (p.Lys4668Ter)
c.13999A>T (p.Lys4667Ter)
c.13984A>T (p.Lys4662Ter)
c.14014A>T (p.Lys4672Ter)
c.13930A>T (p.Lys4644Ter)
19g.38573196A>CCA405681910RYR1c.954A>C
c.2351A>C
c.2323A>C
c.14018A>C (p.Lys4673Thr)
c.14003A>C (p.Lys4668Thr)
c.14000A>C (p.Lys4667Thr)
c.13985A>C (p.Lys4662Thr)
c.14015A>C (p.Lys4672Thr)
c.13931A>C (p.Lys4644Thr)
19g.38573196A>GCA405681911RYR1c.954A>G
c.2351A>G
c.2323A>G
c.14018A>G (p.Lys4673Arg)
c.14003A>G (p.Lys4668Arg)
c.14000A>G (p.Lys4667Arg)
c.13985A>G (p.Lys4662Arg)
c.14015A>G (p.Lys4672Arg)
c.13931A>G (p.Lys4644Arg)
19g.38573196A>TCA405681912RYR1c.954A>T
c.2351A>T
c.2323A>T
c.14018A>T (p.Lys4673Met)
c.14003A>T (p.Lys4668Met)
c.14000A>T (p.Lys4667Met)
c.13985A>T (p.Lys4662Met)
c.14015A>T (p.Lys4672Met)
c.13931A>T (p.Lys4644Met)
19g.38573197G>ACA507245131RYR1c.955G>A
c.2352G>A
c.2324G>A
c.14019G>A (p.Lys4673=)
c.14004G>A (p.Lys4668=)
c.14001G>A (p.Lys4667=)
c.13986G>A (p.Lys4662=)
c.14016G>A (p.Lys4672=)
c.13932G>A (p.Lys4644=)
 ClinVar
19g.38573197G>CCA405681913RYR1c.955G>C
c.2352G>C
c.2324G>C
c.14019G>C (p.Lys4673Asn)
c.14004G>C (p.Lys4668Asn)
c.14001G>C (p.Lys4667Asn)
c.13986G>C (p.Lys4662Asn)
c.14016G>C (p.Lys4672Asn)
c.13932G>C (p.Lys4644Asn)
19g.38573197G>TCA405681914RYR1c.955G>T
c.2352G>T
c.2324G>T
c.14019G>T (p.Lys4673Asn)
c.14004G>T (p.Lys4668Asn)
c.14001G>T (p.Lys4667Asn)
c.13986G>T (p.Lys4662Asn)
c.14016G>T (p.Lys4672Asn)
c.13932G>T (p.Lys4644Asn)
19g.38573198C>ACA507245132RYR1c.956C>A
c.2353C>A
c.2325C>A
c.14020C>A (p.Arg4674=)
c.14005C>A (p.Arg4669=)
c.14002C>A (p.Arg4668=)
c.13987C>A (p.Arg4663=)
c.14017C>A (p.Arg4673=)
c.13933C>A (p.Arg4645=)
19g.38573198C=CA2335088974RYR1c.956C=
c.2353C=
c.2325C=
c.14020C= (p.Arg4674=)
c.14005C= (p.Arg4669=)
c.14002C= (p.Arg4668=)
c.13987C= (p.Arg4663=)
c.14017C= (p.Arg4673=)
c.13933C= (p.Arg4645=)
19g.38573198C>GCA405681918RYR1c.956C>G
c.2353C>G
c.2325C>G
c.14020C>G (p.Arg4674Gly)
c.14005C>G (p.Arg4669Gly)
c.14002C>G (p.Arg4668Gly)
c.13987C>G (p.Arg4663Gly)
c.14017C>G (p.Arg4673Gly)
c.13933C>G (p.Arg4645Gly)
19g.38573198C>TCA060778RYR1c.956C>T
c.2353C>T
c.2325C>T
c.14020C>T (p.Arg4674Trp)
c.14005C>T (p.Arg4669Trp)
c.14002C>T (p.Arg4668Trp)
c.13987C>T (p.Arg4663Trp)
c.14017C>T (p.Arg4673Trp)
c.13933C>T (p.Arg4645Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38573199G>ACA405681922RYR1c.957G>A
c.2354G>A
c.2326G>A
c.14021G>A (p.Arg4674Gln)
c.14006G>A (p.Arg4669Gln)
c.14003G>A (p.Arg4668Gln)
c.13988G>A (p.Arg4663Gln)
c.14018G>A (p.Arg4673Gln)
c.13934G>A (p.Arg4645Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38573199G>CCA405681924RYR1c.957G>C
c.2354G>C
c.2326G>C
c.14021G>C (p.Arg4674Pro)
c.14006G>C (p.Arg4669Pro)
c.14003G>C (p.Arg4668Pro)
c.13988G>C (p.Arg4663Pro)
c.14018G>C (p.Arg4673Pro)
c.13934G>C (p.Arg4645Pro)
 gnomAD v4
19g.38573199G=CA2335088975RYR1c.957G=
c.2354G=
c.2326G=
c.14021G= (p.Arg4674=)
c.14006G= (p.Arg4669=)
c.14003G= (p.Arg4668=)
c.13988G= (p.Arg4663=)
c.14018G= (p.Arg4673=)
c.13934G= (p.Arg4645=)
19g.38573199G>TCA405681926RYR1c.957G>T
c.2354G>T
c.2326G>T
c.14021G>T (p.Arg4674Leu)
c.14006G>T (p.Arg4669Leu)
c.14003G>T (p.Arg4668Leu)
c.13988G>T (p.Arg4663Leu)
c.14018G>T (p.Arg4673Leu)
c.13934G>T (p.Arg4645Leu)
19g.38573200G>ACA507245133RYR1c.958G>A
c.2355G>A
c.2327G>A
c.14022G>A (p.Arg4674=)
c.14007G>A (p.Arg4669=)
c.14004G>A (p.Arg4668=)
c.13989G>A (p.Arg4663=)
c.14019G>A (p.Arg4673=)
c.13935G>A (p.Arg4645=)
19g.38573200G>CCA507245134RYR1c.958G>C
c.2355G>C
c.2327G>C
c.14022G>C (p.Arg4674=)
c.14007G>C (p.Arg4669=)
c.14004G>C (p.Arg4668=)
c.13989G>C (p.Arg4663=)
c.14019G>C (p.Arg4673=)
c.13935G>C (p.Arg4645=)
19g.38573200G>TCA507245135RYR1c.958G>T
c.2355G>T
c.2327G>T
c.14022G>T (p.Arg4674=)
c.14007G>T (p.Arg4669=)
c.14004G>T (p.Arg4668=)
c.13989G>T (p.Arg4663=)
c.14019G>T (p.Arg4673=)
c.13935G>T (p.Arg4645=)
 COSMIC
19g.38573201G>ACA405681929RYR1c.959G>A
c.2356G>A
c.2328G>A
c.14023G>A (p.Glu4675Lys)
c.14008G>A (p.Glu4670Lys)
c.14005G>A (p.Glu4669Lys)
c.13990G>A (p.Glu4664Lys)
c.14020G>A (p.Glu4674Lys)
c.13936G>A (p.Glu4646Lys)
19g.38573201G>CCA405681931RYR1c.959G>C
c.2356G>C
c.2328G>C
c.14023G>C (p.Glu4675Gln)
c.14008G>C (p.Glu4670Gln)
c.14005G>C (p.Glu4669Gln)
c.13990G>C (p.Glu4664Gln)
c.14020G>C (p.Glu4674Gln)
c.13936G>C (p.Glu4646Gln)
19g.38573201G>TCA405681934RYR1c.959G>T
c.2356G>T
c.2328G>T
c.14023G>T (p.Glu4675Ter)
c.14008G>T (p.Glu4670Ter)
c.14005G>T (p.Glu4669Ter)
c.13990G>T (p.Glu4664Ter)
c.14020G>T (p.Glu4674Ter)
c.13936G>T (p.Glu4646Ter)
19g.38573202A>CCA405681939RYR1c.960A>C
c.2357A>C
c.2329A>C
c.14024A>C (p.Glu4675Ala)
c.14009A>C (p.Glu4670Ala)
c.14006A>C (p.Glu4669Ala)
c.13991A>C (p.Glu4664Ala)
c.14021A>C (p.Glu4674Ala)
c.13937A>C (p.Glu4646Ala)
19g.38573202A>GCA405681941RYR1c.960A>G
c.2357A>G
c.2329A>G
c.14024A>G (p.Glu4675Gly)
c.14009A>G (p.Glu4670Gly)
c.14006A>G (p.Glu4669Gly)
c.13991A>G (p.Glu4664Gly)
c.14021A>G (p.Glu4674Gly)
c.13937A>G (p.Glu4646Gly)
19g.38573202A>TCA405681936RYR1c.960A>T
c.2357A>T
c.2329A>T
c.14024A>T (p.Glu4675Val)
c.14009A>T (p.Glu4670Val)
c.14006A>T (p.Glu4669Val)
c.13991A>T (p.Glu4664Val)
c.14021A>T (p.Glu4674Val)
c.13937A>T (p.Glu4646Val)
19g.38573203G>ACA507245136RYR1c.961G>A
c.2358G>A
c.2330G>A
c.14025G>A (p.Glu4675=)
c.14010G>A (p.Glu4670=)
c.14007G>A (p.Glu4669=)
c.13992G>A (p.Glu4664=)
c.14022G>A (p.Glu4674=)
c.13938G>A (p.Glu4646=)
 ClinVar dbSNP
19g.38573203G>CCA405681952RYR1c.961G>C
c.2358G>C
c.2330G>C
c.14025G>C (p.Glu4675Asp)
c.14010G>C (p.Glu4670Asp)
c.14007G>C (p.Glu4669Asp)
c.13992G>C (p.Glu4664Asp)
c.14022G>C (p.Glu4674Asp)
c.13938G>C (p.Glu4646Asp)
19g.38573203G=CA2335088976RYR1c.961G=
c.2358G=
c.2330G=
c.14025G= (p.Glu4675=)
c.14010G= (p.Glu4670=)
c.14007G= (p.Glu4669=)
c.13992G= (p.Glu4664=)
c.14022G= (p.Glu4674=)
c.13938G= (p.Glu4646=)
19g.38573203G>TCA405681955RYR1c.961G>T
c.2358G>T
c.2330G>T
c.14025G>T (p.Glu4675Asp)
c.14010G>T (p.Glu4670Asp)
c.14007G>T (p.Glu4669Asp)
c.13992G>T (p.Glu4664Asp)
c.14022G>T (p.Glu4674Asp)
c.13938G>T (p.Glu4646Asp)
19g.38573204A>CCA405681957RYR1c.962A>C
c.2359A>C
c.2331A>C
c.14026A>C (p.Lys4676Gln)
c.14011A>C (p.Lys4671Gln)
c.14008A>C (p.Lys4670Gln)
c.13993A>C (p.Lys4665Gln)
c.14023A>C (p.Lys4675Gln)
c.13939A>C (p.Lys4647Gln)
19g.38573204A>GCA405681960RYR1c.962A>G
c.2359A>G
c.2331A>G
c.14026A>G (p.Lys4676Glu)
c.14011A>G (p.Lys4671Glu)
c.14008A>G (p.Lys4670Glu)
c.13993A>G (p.Lys4665Glu)
c.14023A>G (p.Lys4675Glu)
c.13939A>G (p.Lys4647Glu)
19g.38573204A>TCA405681962RYR1c.962A>T
c.2359A>T
c.2331A>T
c.14026A>T (p.Lys4676Ter)
c.14011A>T (p.Lys4671Ter)
c.14008A>T (p.Lys4670Ter)
c.13993A>T (p.Lys4665Ter)
c.14023A>T (p.Lys4675Ter)
c.13939A>T (p.Lys4647Ter)
19g.38573205A=CA2335088977RYR1c.963A=
c.2360A=
c.2332A=
c.14027A= (p.Lys4676=)
c.14012A= (p.Lys4671=)
c.14009A= (p.Lys4670=)
c.13994A= (p.Lys4665=)
c.14024A= (p.Lys4675=)
c.13940A= (p.Lys4647=)
19g.38573205A>CCA405681969RYR1c.963A>C
c.2360A>C
c.2332A>C
c.14027A>C (p.Lys4676Thr)
c.14012A>C (p.Lys4671Thr)
c.14009A>C (p.Lys4670Thr)
c.13994A>C (p.Lys4665Thr)
c.14024A>C (p.Lys4675Thr)
c.13940A>C (p.Lys4647Thr)
19g.38573205A>GCA405681972RYR1c.963A>G
c.2360A>G
c.2332A>G
c.14027A>G (p.Lys4676Arg)
c.14012A>G (p.Lys4671Arg)
c.14009A>G (p.Lys4670Arg)
c.13994A>G (p.Lys4665Arg)
c.14024A>G (p.Lys4675Arg)
c.13940A>G (p.Lys4647Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.38573205A>TCA405681975RYR1c.963A>T
c.2360A>T
c.2332A>T
c.14027A>T (p.Lys4676Met)
c.14012A>T (p.Lys4671Met)
c.14009A>T (p.Lys4670Met)
c.13994A>T (p.Lys4665Met)
c.14024A>T (p.Lys4675Met)
c.13940A>T (p.Lys4647Met)
19g.38573206G>ACA507245137RYR1c.964G>A
c.2361G>A
c.2333G>A
c.14028G>A (p.Lys4676=)
c.14013G>A (p.Lys4671=)
c.14010G>A (p.Lys4670=)
c.13995G>A (p.Lys4665=)
c.14025G>A (p.Lys4675=)
c.13941G>A (p.Lys4647=)
19g.38573206G>CCA405681979RYR1c.964G>C
c.2361G>C
c.2333G>C
c.14028G>C (p.Lys4676Asn)
c.14013G>C (p.Lys4671Asn)
c.14010G>C (p.Lys4670Asn)
c.13995G>C (p.Lys4665Asn)
c.14025G>C (p.Lys4675Asn)
c.13941G>C (p.Lys4647Asn)
19g.38573206G>TCA405681982RYR1c.964G>T
c.2361G>T
c.2333G>T
c.14028G>T (p.Lys4676Asn)
c.14013G>T (p.Lys4671Asn)
c.14010G>T (p.Lys4670Asn)
c.13995G>T (p.Lys4665Asn)
c.14025G>T (p.Lys4675Asn)
c.13941G>T (p.Lys4647Asn)
19g.38573207G>ACA405681985RYR1c.965G>A
c.2362G>A
c.2334G>A
c.14029G>A (p.Glu4677Lys)
c.14014G>A (p.Glu4672Lys)
c.14011G>A (p.Glu4671Lys)
c.13996G>A (p.Glu4666Lys)
c.14026G>A (p.Glu4676Lys)
c.13942G>A (p.Glu4648Lys)
19g.38573207G>CCA405681988RYR1c.965G>C
c.2362G>C
c.2334G>C
c.14029G>C (p.Glu4677Gln)
c.14014G>C (p.Glu4672Gln)
c.14011G>C (p.Glu4671Gln)
c.13996G>C (p.Glu4666Gln)
c.14026G>C (p.Glu4676Gln)
c.13942G>C (p.Glu4648Gln)
19g.38573207G>TCA405681992RYR1c.965G>T
c.2362G>T
c.2334G>T
c.14029G>T (p.Glu4677Ter)
c.14014G>T (p.Glu4672Ter)
c.14011G>T (p.Glu4671Ter)
c.13996G>T (p.Glu4666Ter)
c.14026G>T (p.Glu4676Ter)
c.13942G>T (p.Glu4648Ter)
19g.38573208A>CCA405682001RYR1c.966A>C
c.2363A>C
c.2335A>C
c.14030A>C (p.Glu4677Ala)
c.14015A>C (p.Glu4672Ala)
c.14012A>C (p.Glu4671Ala)
c.13997A>C (p.Glu4666Ala)
c.14027A>C (p.Glu4676Ala)
c.13943A>C (p.Glu4648Ala)
19g.38573208A>GCA405682022RYR1c.966A>G
c.2363A>G
c.2335A>G
c.14030A>G (p.Glu4677Gly)
c.14015A>G (p.Glu4672Gly)
c.14012A>G (p.Glu4671Gly)
c.13997A>G (p.Glu4666Gly)
c.14027A>G (p.Glu4676Gly)
c.13943A>G (p.Glu4648Gly)
19g.38573208A>TCA405682019RYR1c.966A>T
c.2363A>T
c.2335A>T
c.14030A>T (p.Glu4677Val)
c.14015A>T (p.Glu4672Val)
c.14012A>T (p.Glu4671Val)
c.13997A>T (p.Glu4666Val)
c.14027A>T (p.Glu4676Val)
c.13943A>T (p.Glu4648Val)
19g.38573209G>ACA507245138RYR1c.967G>A
c.2364G>A
c.2336G>A
c.14031G>A (p.Glu4677=)
c.14016G>A (p.Glu4672=)
c.14013G>A (p.Glu4671=)
c.13998G>A (p.Glu4666=)
c.14028G>A (p.Glu4676=)
c.13944G>A (p.Glu4648=)
 dbSNP gnomAD v2 gnomAD v4
19g.38573209G>CCA081048RYR1c.967G>C
c.2364G>C
c.2336G>C
c.14031G>C (p.Glu4677Asp)
c.14016G>C (p.Glu4672Asp)
c.14013G>C (p.Glu4671Asp)
c.13998G>C (p.Glu4666Asp)
c.14028G>C (p.Glu4676Asp)
c.13944G>C (p.Glu4648Asp)
 ClinVar dbSNP gnomAD v4
19g.38573209G=CA2335088978RYR1c.967G=
c.2364G=
c.2336G=
c.14031G= (p.Glu4677=)
c.14016G= (p.Glu4672=)
c.14013G= (p.Glu4671=)
c.13998G= (p.Glu4666=)
c.14028G= (p.Glu4676=)
c.13944G= (p.Glu4648=)
19g.38573209G>TCA405682026RYR1c.967G>T
c.2364G>T
c.2336G>T
c.14031G>T (p.Glu4677Asp)
c.14016G>T (p.Glu4672Asp)
c.14013G>T (p.Glu4671Asp)
c.13998G>T (p.Glu4666Asp)
c.14028G>T (p.Glu4676Asp)
c.13944G>T (p.Glu4648Asp)
 gnomAD v4
19g.38573210C>ACA405682029RYR1c.968C>A
c.2365C>A
c.2337C>A
c.14032C>A (p.Leu4678Met)
c.14017C>A (p.Leu4673Met)
c.14014C>A (p.Leu4672Met)
c.13999C>A (p.Leu4667Met)
c.14029C>A (p.Leu4677Met)
c.13945C>A (p.Leu4649Met)
19g.38573210C=CA2335088979RYR1c.968C=
c.2365C=
c.2337C=
c.14032C= (p.Leu4678=)
c.14017C= (p.Leu4673=)
c.14014C= (p.Leu4672=)
c.13999C= (p.Leu4667=)
c.14029C= (p.Leu4677=)
c.13945C= (p.Leu4649=)
19g.38573210C>GCA405682032RYR1c.968C>G
c.2365C>G
c.2337C>G
c.14032C>G (p.Leu4678Val)
c.14017C>G (p.Leu4673Val)
c.14014C>G (p.Leu4672Val)
c.13999C>G (p.Leu4667Val)
c.14029C>G (p.Leu4677Val)
c.13945C>G (p.Leu4649Val)
19g.38573210C>TCA507245139RYR1c.968C>T
c.2365C>T
c.2337C>T
c.14032C>T (p.Leu4678=)
c.14017C>T (p.Leu4673=)
c.14014C>T (p.Leu4672=)
c.13999C>T (p.Leu4667=)
c.14029C>T (p.Leu4677=)
c.13945C>T (p.Leu4649=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38573211T>ACA405682034RYR1c.969T>A
c.2366T>A
c.2338T>A
c.14033T>A (p.Leu4678Gln)
c.14018T>A (p.Leu4673Gln)
c.14015T>A (p.Leu4672Gln)
c.14000T>A (p.Leu4667Gln)
c.14030T>A (p.Leu4677Gln)
c.13946T>A (p.Leu4649Gln)
19g.38573211T>CCA405682038RYR1c.969T>C
c.2366T>C
c.2338T>C
c.14033T>C (p.Leu4678Pro)
c.14018T>C (p.Leu4673Pro)
c.14015T>C (p.Leu4672Pro)
c.14000T>C (p.Leu4667Pro)
c.14030T>C (p.Leu4677Pro)
c.13946T>C (p.Leu4649Pro)
19g.38573211T>GCA405682046RYR1c.969T>G
c.2366T>G
c.2338T>G
c.14033T>G (p.Leu4678Arg)
c.14018T>G (p.Leu4673Arg)
c.14015T>G (p.Leu4672Arg)
c.14000T>G (p.Leu4667Arg)
c.14030T>G (p.Leu4677Arg)
c.13946T>G (p.Leu4649Arg)
19g.38573212G>ACA507245142RYR1c.970G>A
c.2367G>A
c.2339G>A
c.14034G>A (p.Leu4678=)
c.14019G>A (p.Leu4673=)
c.14016G>A (p.Leu4672=)
c.14001G>A (p.Leu4667=)
c.14031G>A (p.Leu4677=)
c.13947G>A (p.Leu4649=)
19g.38573212G>CCA507245140RYR1c.970G>C
c.2367G>C
c.2339G>C
c.14034G>C (p.Leu4678=)
c.14019G>C (p.Leu4673=)
c.14016G>C (p.Leu4672=)
c.14001G>C (p.Leu4667=)
c.14031G>C (p.Leu4677=)
c.13947G>C (p.Leu4649=)
19g.38573212G>TCA507245141RYR1c.970G>T
c.2367G>T
c.2339G>T
c.14034G>T (p.Leu4678=)
c.14019G>T (p.Leu4673=)
c.14016G>T (p.Leu4672=)
c.14001G>T (p.Leu4667=)
c.14031G>T (p.Leu4677=)
c.13947G>T (p.Leu4649=)
19g.38573213G>ACA405682051RYR1c.971G>A
c.2368G>A
c.2340G>A
c.14035G>A (p.Ala4679Thr)
c.14020G>A (p.Ala4674Thr)
c.14017G>A (p.Ala4673Thr)
c.14002G>A (p.Ala4668Thr)
c.14032G>A (p.Ala4678Thr)
c.13948G>A (p.Ala4650Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38573213G>CCA405682054RYR1c.971G>C
c.2368G>C
c.2340G>C
c.14035G>C (p.Ala4679Pro)
c.14020G>C (p.Ala4674Pro)
c.14017G>C (p.Ala4673Pro)
c.14002G>C (p.Ala4668Pro)
c.14032G>C (p.Ala4678Pro)
c.13948G>C (p.Ala4650Pro)
19g.38573213G=CA2335088980RYR1c.971G=
c.2368G=
c.2340G=
c.14035G= (p.Ala4679=)
c.14020G= (p.Ala4674=)
c.14017G= (p.Ala4673=)
c.14002G= (p.Ala4668=)
c.14032G= (p.Ala4678=)
c.13948G= (p.Ala4650=)
19g.38573213G>TCA405682058RYR1c.971G>T
c.2368G>T
c.2340G>T
c.14035G>T (p.Ala4679Ser)
c.14020G>T (p.Ala4674Ser)
c.14017G>T (p.Ala4673Ser)
c.14002G>T (p.Ala4668Ser)
c.14032G>T (p.Ala4678Ser)
c.13948G>T (p.Ala4650Ser)
19g.38573214C>ACA405682071RYR1c.972C>A
c.2369C>A
c.2341C>A
c.14036C>A (p.Ala4679Asp)
c.14021C>A (p.Ala4674Asp)
c.14018C>A (p.Ala4673Asp)
c.14003C>A (p.Ala4668Asp)
c.14033C>A (p.Ala4678Asp)
c.13949C>A (p.Ala4650Asp)
19g.38573214C>GCA405682078RYR1c.972C>G
c.2369C>G
c.2341C>G
c.14036C>G (p.Ala4679Gly)
c.14021C>G (p.Ala4674Gly)
c.14018C>G (p.Ala4673Gly)
c.14003C>G (p.Ala4668Gly)
c.14033C>G (p.Ala4678Gly)
c.13949C>G (p.Ala4650Gly)
19g.38573214C>TCA405682065RYR1c.972C>T
c.2369C>T
c.2341C>T
c.14036C>T (p.Ala4679Val)
c.14021C>T (p.Ala4674Val)
c.14018C>T (p.Ala4673Val)
c.14003C>T (p.Ala4668Val)
c.14033C>T (p.Ala4678Val)
c.13949C>T (p.Ala4650Val)
19g.38573215C>ACA507245143RYR1c.973C>A
c.2370C>A
c.2342C>A
c.14037C>A (p.Ala4679=)
c.14022C>A (p.Ala4674=)
c.14019C>A (p.Ala4673=)
c.14004C>A (p.Ala4668=)
c.14034C>A (p.Ala4678=)
c.13950C>A (p.Ala4650=)
19g.38573215C=CA2335088981RYR1c.973C=
c.2370C=
c.2342C=
c.14037C= (p.Ala4679=)
c.14022C= (p.Ala4674=)
c.14019C= (p.Ala4673=)
c.14004C= (p.Ala4668=)
c.14034C= (p.Ala4678=)
c.13950C= (p.Ala4650=)
19g.38573215C>GCA507245144RYR1c.973C>G
c.2370C>G
c.2342C>G
c.14037C>G (p.Ala4679=)
c.14022C>G (p.Ala4674=)
c.14019C>G (p.Ala4673=)
c.14004C>G (p.Ala4668=)
c.14034C>G (p.Ala4678=)
c.13950C>G (p.Ala4650=)
19g.38573215C>TCA308114699RYR1c.973C>T
c.2370C>T
c.2342C>T
c.14037C>T (p.Ala4679=)
c.14022C>T (p.Ala4674=)
c.14019C>T (p.Ala4673=)
c.14004C>T (p.Ala4668=)
c.14034C>T (p.Ala4678=)
c.13950C>T (p.Ala4650=)
 dbSNP gnomAD v4 COSMIC
19g.38573216C>ACA507245145RYR1c.974C>A
c.2371C>A
c.2343C>A
c.14038C>A (p.Arg4680=)
c.14023C>A (p.Arg4675=)
c.14020C>A (p.Arg4674=)
c.14005C>A (p.Arg4669=)
c.14035C>A (p.Arg4679=)
c.13951C>A (p.Arg4651=)
 ClinVar
19g.38573216C=CA2335088982RYR1c.974C=
c.2371C=
c.2343C=
c.14038C= (p.Arg4680=)
c.14023C= (p.Arg4675=)
c.14020C= (p.Arg4674=)
c.14005C= (p.Arg4669=)
c.14035C= (p.Arg4679=)
c.13951C= (p.Arg4651=)
19g.38573216C>GCA405682081RYR1c.974C>G
c.2371C>G
c.2343C>G
c.14038C>G (p.Arg4680Gly)
c.14023C>G (p.Arg4675Gly)
c.14020C>G (p.Arg4674Gly)
c.14005C>G (p.Arg4669Gly)
c.14035C>G (p.Arg4679Gly)
c.13951C>G (p.Arg4651Gly)
19g.38573216C>TCA405682082RYR1c.974C>T
c.2371C>T
c.2343C>T
c.14038C>T (p.Arg4680Trp)
c.14023C>T (p.Arg4675Trp)
c.14020C>T (p.Arg4674Trp)
c.14005C>T (p.Arg4669Trp)
c.14035C>T (p.Arg4679Trp)
c.13951C>T (p.Arg4651Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38573217G>ACA405682083RYR1c.975G>A
c.2372G>A
c.2344G>A
c.14039G>A (p.Arg4680Gln)
c.14024G>A (p.Arg4675Gln)
c.14021G>A (p.Arg4674Gln)
c.14006G>A (p.Arg4669Gln)
c.14036G>A (p.Arg4679Gln)
c.13952G>A (p.Arg4651Gln)
 ClinVar dbSNP gnomAD v4
19g.38573217G>CCA405682084RYR1c.975G>C
c.2372G>C
c.2344G>C
c.14039G>C (p.Arg4680Pro)
c.14024G>C (p.Arg4675Pro)
c.14021G>C (p.Arg4674Pro)
c.14006G>C (p.Arg4669Pro)
c.14036G>C (p.Arg4679Pro)
c.13952G>C (p.Arg4651Pro)
19g.38573217G=CA2335088983RYR1c.975G=
c.2372G=
c.2344G=
c.14039G= (p.Arg4680=)
c.14024G= (p.Arg4675=)
c.14021G= (p.Arg4674=)
c.14006G= (p.Arg4669=)
c.14036G= (p.Arg4679=)
c.13952G= (p.Arg4651=)
19g.38573217G>TCA405682085RYR1c.975G>T
c.2372G>T
c.2344G>T
c.14039G>T (p.Arg4680Leu)
c.14024G>T (p.Arg4675Leu)
c.14021G>T (p.Arg4674Leu)
c.14006G>T (p.Arg4669Leu)
c.14036G>T (p.Arg4679Leu)
c.13952G>T (p.Arg4651Leu)
19g.38573218G>ACA060779RYR1c.976G>A
c.2373G>A
c.2345G>A
c.14040G>A (p.Arg4680=)
c.14025G>A (p.Arg4675=)
c.14022G>A (p.Arg4674=)
c.14007G>A (p.Arg4669=)
c.14037G>A (p.Arg4679=)
c.13953G>A (p.Arg4651=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38573218G>CCA507245148RYR1c.976G>C
c.2373G>C
c.2345G>C
c.14040G>C (p.Arg4680=)
c.14025G>C (p.Arg4675=)
c.14022G>C (p.Arg4674=)
c.14007G>C (p.Arg4669=)
c.14037G>C (p.Arg4679=)
c.13953G>C (p.Arg4651=)
19g.38573218G=CA2335088984RYR1c.976G=
c.2373G=
c.2345G=
c.14040G= (p.Arg4680=)
c.14025G= (p.Arg4675=)
c.14022G= (p.Arg4674=)
c.14007G= (p.Arg4669=)
c.14037G= (p.Arg4679=)
c.13953G= (p.Arg4651=)
19g.38573218G>TCA507245149RYR1c.976G>T
c.2373G>T
c.2345G>T
c.14040G>T (p.Arg4680=)
c.14025G>T (p.Arg4675=)
c.14022G>T (p.Arg4674=)
c.14007G>T (p.Arg4669=)
c.14037G>T (p.Arg4679=)
c.13953G>T (p.Arg4651=)
 gnomAD v4
19g.38573219A=CA2335088985RYR1c.977A=
c.2374A=
c.2346A=
c.14041A= (p.Lys4681=)
c.14026A= (p.Lys4676=)
c.14023A= (p.Lys4675=)
c.14008A= (p.Lys4670=)
c.14038A= (p.Lys4680=)
c.13954A= (p.Lys4652=)
19g.38573219A>CCA405682086RYR1c.977A>C
c.2374A>C
c.2346A>C
c.14041A>C (p.Lys4681Gln)
c.14026A>C (p.Lys4676Gln)
c.14023A>C (p.Lys4675Gln)
c.14008A>C (p.Lys4670Gln)
c.14038A>C (p.Lys4680Gln)
c.13954A>C (p.Lys4652Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38573219A>GCA405682087RYR1c.977A>G
c.2374A>G
c.2346A>G
c.14041A>G (p.Lys4681Glu)
c.14026A>G (p.Lys4676Glu)
c.14023A>G (p.Lys4675Glu)
c.14008A>G (p.Lys4670Glu)
c.14038A>G (p.Lys4680Glu)
c.13954A>G (p.Lys4652Glu)
19g.38573219A>TCA405682088RYR1c.977A>T
c.2374A>T
c.2346A>T
c.14041A>T (p.Lys4681Ter)
c.14026A>T (p.Lys4676Ter)
c.14023A>T (p.Lys4675Ter)
c.14008A>T (p.Lys4670Ter)
c.14038A>T (p.Lys4680Ter)
c.13954A>T (p.Lys4652Ter)
19g.38573220A>CCA405682089RYR1c.978A>C
c.2375A>C
c.2347A>C
c.14042A>C (p.Lys4681Thr)
c.14027A>C (p.Lys4676Thr)
c.14024A>C (p.Lys4675Thr)
c.14009A>C (p.Lys4670Thr)
c.14039A>C (p.Lys4680Thr)
c.13955A>C (p.Lys4652Thr)
19g.38573220A>GCA405682090RYR1c.978A>G
c.2375A>G
c.2347A>G
c.14042A>G (p.Lys4681Arg)
c.14027A>G (p.Lys4676Arg)
c.14024A>G (p.Lys4675Arg)
c.14009A>G (p.Lys4670Arg)
c.14039A>G (p.Lys4680Arg)
c.13955A>G (p.Lys4652Arg)
19g.38573220A>TCA405682091RYR1c.978A>T
c.2375A>T
c.2347A>T
c.14042A>T (p.Lys4681Met)
c.14027A>T (p.Lys4676Met)
c.14024A>T (p.Lys4675Met)
c.14009A>T (p.Lys4670Met)
c.14039A>T (p.Lys4680Met)
c.13955A>T (p.Lys4652Met)
19g.38573221G>ACA081075RYR1c.979G>A
c.2376G>A
c.2348G>A
c.14043G>A (p.Lys4681=)
c.14028G>A (p.Lys4676=)
c.14025G>A (p.Lys4675=)
c.14010G>A (p.Lys4670=)
c.14040G>A (p.Lys4680=)
c.13956G>A (p.Lys4652=)
19g.38573221G>CCA405682092RYR1c.979G>C
c.2376G>C
c.2348G>C
c.14043G>C (p.Lys4681Asn)
c.14028G>C (p.Lys4676Asn)
c.14025G>C (p.Lys4675Asn)
c.14010G>C (p.Lys4670Asn)
c.14040G>C (p.Lys4680Asn)
c.13956G>C (p.Lys4652Asn)
19g.38573221G=CA2335088986RYR1c.979G=
c.2376G=
c.2348G=
c.14043G= (p.Lys4681=)
c.14028G= (p.Lys4676=)
c.14025G= (p.Lys4675=)
c.14010G= (p.Lys4670=)
c.14040G= (p.Lys4680=)
c.13956G= (p.Lys4652=)
19g.38573221G>TCA405682093RYR1c.979G>T
c.2376G>T
c.2348G>T
c.14043G>T (p.Lys4681Asn)
c.14028G>T (p.Lys4676Asn)
c.14025G>T (p.Lys4675Asn)
c.14010G>T (p.Lys4670Asn)
c.14040G>T (p.Lys4680Asn)
c.13956G>T (p.Lys4652Asn)
 dbSNP gnomAD v2 gnomAD v4
19g.38573222C>ACA405682095RYR1c.980C>A
c.2377C>A
c.2349C>A
c.14044C>A (p.Leu4682Met)
c.14029C>A (p.Leu4677Met)
c.14026C>A (p.Leu4676Met)
c.14011C>A (p.Leu4671Met)
c.14041C>A (p.Leu4681Met)
c.13957C>A (p.Leu4653Met)
19g.38573222C>GCA405682096RYR1c.980C>G
c.2377C>G
c.2349C>G
c.14044C>G (p.Leu4682Val)
c.14029C>G (p.Leu4677Val)
c.14026C>G (p.Leu4676Val)
c.14011C>G (p.Leu4671Val)
c.14041C>G (p.Leu4681Val)
c.13957C>G (p.Leu4653Val)
19g.38573222C>TCA507245150RYR1c.980C>T
c.2377C>T
c.2349C>T
c.14044C>T (p.Leu4682=)
c.14029C>T (p.Leu4677=)
c.14026C>T (p.Leu4676=)
c.14011C>T (p.Leu4671=)
c.14041C>T (p.Leu4681=)
c.13957C>T (p.Leu4653=)
19g.38573223T>ACA405682097RYR1c.981T>A
c.2378T>A
c.2350T>A
c.14045T>A (p.Leu4682Gln)
c.14030T>A (p.Leu4677Gln)
c.14027T>A (p.Leu4676Gln)
c.14012T>A (p.Leu4671Gln)
c.14042T>A (p.Leu4681Gln)
c.13958T>A (p.Leu4653Gln)
19g.38573223T>CCA405682098RYR1c.981T>C
c.2378T>C
c.2350T>C
c.14045T>C (p.Leu4682Pro)
c.14030T>C (p.Leu4677Pro)
c.14027T>C (p.Leu4676Pro)
c.14012T>C (p.Leu4671Pro)
c.14042T>C (p.Leu4681Pro)
c.13958T>C (p.Leu4653Pro)
19g.38573223T>GCA405682100RYR1c.981T>G
c.2378T>G
c.2350T>G
c.14045T>G (p.Leu4682Arg)
c.14030T>G (p.Leu4677Arg)
c.14027T>G (p.Leu4676Arg)
c.14012T>G (p.Leu4671Arg)
c.14042T>G (p.Leu4681Arg)
c.13958T>G (p.Leu4653Arg)
19g.38573224G>ACA507245151RYR1c.982G>A
c.2379G>A
c.2351G>A
c.14046G>A (p.Leu4682=)
c.14031G>A (p.Leu4677=)
c.14028G>A (p.Leu4676=)
c.14013G>A (p.Leu4671=)
c.14043G>A (p.Leu4681=)
c.13959G>A (p.Leu4653=)
 dbSNP COSMIC
19g.38573224G>CCA507245152RYR1c.982G>C
c.2379G>C
c.2351G>C
c.14046G>C (p.Leu4682=)
c.14031G>C (p.Leu4677=)
c.14028G>C (p.Leu4676=)
c.14013G>C (p.Leu4671=)
c.14043G>C (p.Leu4681=)
c.13959G>C (p.Leu4653=)
19g.38573224G=CA2335088987RYR1c.982G=
c.2379G=
c.2351G=
c.14046G= (p.Leu4682=)
c.14031G= (p.Leu4677=)
c.14028G= (p.Leu4676=)
c.14013G= (p.Leu4671=)
c.14043G= (p.Leu4681=)
c.13959G= (p.Leu4653=)
19g.38573224G>TCA507245153RYR1c.982G>T
c.2379G>T
c.2351G>T
c.14046G>T (p.Leu4682=)
c.14031G>T (p.Leu4677=)
c.14028G>T (p.Leu4676=)
c.14013G>T (p.Leu4671=)
c.14043G>T (p.Leu4681=)
c.13959G>T (p.Leu4653=)
19g.38573225delCA081052RYR1c.983del
c.2380del
c.2352del
c.14047del (p.Glu4683SerfsTer16)
c.14032del (p.Glu4678SerfsTer16)
c.14029del (p.Glu4677SerfsTer16)
c.14014del (p.Glu4672SerfsTer16)
c.14044del (p.Glu4682SerfsTer16)
c.13960del (p.Glu4654SerfsTer16)
19g.38573225G>ACA405682102RYR1c.983G>A
c.2380G>A
c.2352G>A
c.14047G>A (p.Glu4683Lys)
c.14032G>A (p.Glu4678Lys)
c.14029G>A (p.Glu4677Lys)
c.14014G>A (p.Glu4672Lys)
c.14044G>A (p.Glu4682Lys)
c.13960G>A (p.Glu4654Lys)
19g.38573225G>CCA405682113RYR1c.983G>C
c.2380G>C
c.2352G>C
c.14047G>C (p.Glu4683Gln)
c.14032G>C (p.Glu4678Gln)
c.14029G>C (p.Glu4677Gln)
c.14014G>C (p.Glu4672Gln)
c.14044G>C (p.Glu4682Gln)
c.13960G>C (p.Glu4654Gln)
 COSMIC
19g.38573225G>TCA405682117RYR1c.983G>T
c.2380G>T
c.2352G>T
c.14047G>T (p.Glu4683Ter)
c.14032G>T (p.Glu4678Ter)
c.14029G>T (p.Glu4677Ter)
c.14014G>T (p.Glu4672Ter)
c.14044G>T (p.Glu4682Ter)
c.13960G>T (p.Glu4654Ter)
19g.38573226A=CA2335088988RYR1c.984A=
c.2381A=
c.2353A=
c.14048A= (p.Glu4683=)
c.14033A= (p.Glu4678=)
c.14030A= (p.Glu4677=)
c.14015A= (p.Glu4672=)
c.14045A= (p.Glu4682=)
c.13961A= (p.Glu4654=)
19g.38573226A>CCA405682120RYR1c.984A>C
c.2381A>C
c.2353A>C
c.14048A>C (p.Glu4683Ala)
c.14033A>C (p.Glu4678Ala)
c.14030A>C (p.Glu4677Ala)
c.14015A>C (p.Glu4672Ala)
c.14045A>C (p.Glu4682Ala)
c.13961A>C (p.Glu4654Ala)
 ClinVar dbSNP
19g.38573226A>GCA405682122RYR1c.984A>G
c.2381A>G
c.2353A>G
c.14048A>G (p.Glu4683Gly)
c.14033A>G (p.Glu4678Gly)
c.14030A>G (p.Glu4677Gly)
c.14015A>G (p.Glu4672Gly)
c.14045A>G (p.Glu4682Gly)
c.13961A>G (p.Glu4654Gly)
19g.38573226A>TCA405682125RYR1c.984A>T
c.2381A>T
c.2353A>T
c.14048A>T (p.Glu4683Val)
c.14033A>T (p.Glu4678Val)
c.14030A>T (p.Glu4677Val)
c.14015A>T (p.Glu4672Val)
c.14045A>T (p.Glu4682Val)
c.13961A>T (p.Glu4654Val)
19g.38573227G>ACA060784RYR1c.985G>A
c.2382G>A
c.2354G>A
c.14049G>A (p.Glu4683=)
c.14034G>A (p.Glu4678=)
c.14031G>A (p.Glu4677=)
c.14016G>A (p.Glu4672=)
c.14046G>A (p.Glu4682=)
c.13962G>A (p.Glu4654=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38573227G>CCA405682141RYR1c.985G>C
c.2382G>C
c.2354G>C
c.14049G>C (p.Glu4683Asp)
c.14034G>C (p.Glu4678Asp)
c.14031G>C (p.Glu4677Asp)
c.14016G>C (p.Glu4672Asp)
c.14046G>C (p.Glu4682Asp)
c.13962G>C (p.Glu4654Asp)
19g.38573227G=CA2335088989RYR1c.985G=
c.2382G=
c.2354G=
c.14049G= (p.Glu4683=)
c.14034G= (p.Glu4678=)
c.14031G= (p.Glu4677=)
c.14016G= (p.Glu4672=)
c.14046G= (p.Glu4682=)
c.13962G= (p.Glu4654=)
19g.38573227G>TCA405682142RYR1c.985G>T
c.2382G>T
c.2354G>T
c.14049G>T (p.Glu4683Asp)
c.14034G>T (p.Glu4678Asp)
c.14031G>T (p.Glu4677Asp)
c.14016G>T (p.Glu4672Asp)
c.14046G>T (p.Glu4682Asp)
c.13962G>T (p.Glu4654Asp)
19g.38573228T>ACA405682157RYR1c.986T>A
c.2383T>A
c.2355T>A
c.14050T>A (p.Phe4684Ile)
c.14035T>A (p.Phe4679Ile)
c.14032T>A (p.Phe4678Ile)
c.14017T>A (p.Phe4673Ile)
c.14047T>A (p.Phe4683Ile)
c.13963T>A (p.Phe4655Ile)
19g.38573228T>CCA405682154RYR1c.986T>C
c.2383T>C
c.2355T>C
c.14050T>C (p.Phe4684Leu)
c.14035T>C (p.Phe4679Leu)
c.14032T>C (p.Phe4678Leu)
c.14017T>C (p.Phe4673Leu)
c.14047T>C (p.Phe4683Leu)
c.13963T>C (p.Phe4655Leu)
19g.38573228T>GCA405682149RYR1c.986T>G
c.2383T>G
c.2355T>G
c.14050T>G (p.Phe4684Val)
c.14035T>G (p.Phe4679Val)
c.14032T>G (p.Phe4678Val)
c.14017T>G (p.Phe4673Val)
c.14047T>G (p.Phe4683Val)
c.13963T>G (p.Phe4655Val)
19g.38573229T>ACA405682162RYR1c.987T>A
c.2384T>A
c.2356T>A
c.14051T>A (p.Phe4684Tyr)
c.14036T>A (p.Phe4679Tyr)
c.14033T>A (p.Phe4678Tyr)
c.14018T>A (p.Phe4673Tyr)
c.14048T>A (p.Phe4683Tyr)
c.13964T>A (p.Phe4655Tyr)
19g.38573229T>CCA024101RYR1c.987T>C
c.2384T>C
c.2356T>C
c.14051T>C (p.Phe4684Ser)
c.14036T>C (p.Phe4679Ser)
c.14033T>C (p.Phe4678Ser)
c.14018T>C (p.Phe4673Ser)
c.14048T>C (p.Phe4683Ser)
c.13964T>C (p.Phe4655Ser)
 ClinVar dbSNP gnomAD v4
19g.38573229T>GCA405682164RYR1c.987T>G
c.2384T>G
c.2356T>G
c.14051T>G (p.Phe4684Cys)
c.14036T>G (p.Phe4679Cys)
c.14033T>G (p.Phe4678Cys)
c.14018T>G (p.Phe4673Cys)
c.14048T>G (p.Phe4683Cys)
c.13964T>G (p.Phe4655Cys)
19g.38573229T=CA2335088990RYR1c.987T=
c.2384T=
c.2356T=
c.14051T= (p.Phe4684=)
c.14036T= (p.Phe4679=)
c.14033T= (p.Phe4678=)
c.14018T= (p.Phe4673=)
c.14048T= (p.Phe4683=)
c.13964T= (p.Phe4655=)
19g.38573230T>ACA405682166RYR1c.988T>A
c.2385T>A
c.2357T>A
c.14052T>A (p.Phe4684Leu)
c.14037T>A (p.Phe4679Leu)
c.14034T>A (p.Phe4678Leu)
c.14019T>A (p.Phe4673Leu)
c.14049T>A (p.Phe4683Leu)
c.13965T>A (p.Phe4655Leu)
19g.38573230T>CCA507245154RYR1c.988T>C
c.2385T>C
c.2357T>C
c.14052T>C (p.Phe4684=)
c.14037T>C (p.Phe4679=)
c.14034T>C (p.Phe4678=)
c.14019T>C (p.Phe4673=)
c.14049T>C (p.Phe4683=)
c.13965T>C (p.Phe4655=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38573230T>GCA405682170RYR1c.988T>G
c.2385T>G
c.2357T>G
c.14052T>G (p.Phe4684Leu)
c.14037T>G (p.Phe4679Leu)
c.14034T>G (p.Phe4678Leu)
c.14019T>G (p.Phe4673Leu)
c.14049T>G (p.Phe4683Leu)
c.13965T>G (p.Phe4655Leu)
19g.38573231G>ACA405682174RYR1c.989G>A
c.2386G>A
c.2358G>A
c.14053G>A (p.Asp4685Asn)
c.14038G>A (p.Asp4680Asn)
c.14035G>A (p.Asp4679Asn)
c.14020G>A (p.Asp4674Asn)
c.14050G>A (p.Asp4684Asn)
c.13966G>A (p.Asp4656Asn)
19g.38573231G>CCA405682176RYR1c.989G>C
c.2386G>C
c.2358G>C
c.14053G>C (p.Asp4685His)
c.14038G>C (p.Asp4680His)
c.14035G>C (p.Asp4679His)
c.14020G>C (p.Asp4674His)
c.14050G>C (p.Asp4684His)
c.13966G>C (p.Asp4656His)
 COSMIC
19g.38573231G>TCA405682182RYR1c.989G>T
c.2386G>T
c.2358G>T
c.14053G>T (p.Asp4685Tyr)
c.14038G>T (p.Asp4680Tyr)
c.14035G>T (p.Asp4679Tyr)
c.14020G>T (p.Asp4674Tyr)
c.14050G>T (p.Asp4684Tyr)
c.13966G>T (p.Asp4656Tyr)
19g.38573232A>CCA405682185RYR1c.990A>C
c.2387A>C
c.2359A>C
c.14054A>C (p.Asp4685Ala)
c.14039A>C (p.Asp4680Ala)
c.14036A>C (p.Asp4679Ala)
c.14021A>C (p.Asp4674Ala)
c.14051A>C (p.Asp4684Ala)
c.13967A>C (p.Asp4656Ala)
19g.38573232A>GCA405682187RYR1c.990A>G
c.2387A>G
c.2359A>G
c.14054A>G (p.Asp4685Gly)
c.14039A>G (p.Asp4680Gly)
c.14036A>G (p.Asp4679Gly)
c.14021A>G (p.Asp4674Gly)
c.14051A>G (p.Asp4684Gly)
c.13967A>G (p.Asp4656Gly)
19g.38573232A>TCA405682191RYR1c.990A>T
c.2387A>T
c.2359A>T
c.14054A>T (p.Asp4685Val)
c.14039A>T (p.Asp4680Val)
c.14036A>T (p.Asp4679Val)
c.14021A>T (p.Asp4674Val)
c.14051A>T (p.Asp4684Val)
c.13967A>T (p.Asp4656Val)
19g.38573233T>ACA405682196RYR1c.991T>A
c.2388T>A
c.2360T>A
c.14055T>A (p.Asp4685Glu)
c.14040T>A (p.Asp4680Glu)
c.14037T>A (p.Asp4679Glu)
c.14022T>A (p.Asp4674Glu)
c.14052T>A (p.Asp4684Glu)
c.13968T>A (p.Asp4656Glu)
19g.38573233T>CCA507245155RYR1c.991T>C
c.2388T>C
c.2360T>C
c.14055T>C (p.Asp4685=)
c.14040T>C (p.Asp4680=)
c.14037T>C (p.Asp4679=)
c.14022T>C (p.Asp4674=)
c.14052T>C (p.Asp4684=)
c.13968T>C (p.Asp4656=)
 dbSNP
19g.38573233T>GCA405682197RYR1c.991T>G
c.2388T>G
c.2360T>G
c.14055T>G (p.Asp4685Glu)
c.14040T>G (p.Asp4680Glu)
c.14037T>G (p.Asp4679Glu)
c.14022T>G (p.Asp4674Glu)
c.14052T>G (p.Asp4684Glu)
c.13968T>G (p.Asp4656Glu)
19g.38573234G>ACA405682205RYR1c.992G>A
c.2389G>A
c.2361G>A
c.14056G>A (p.Gly4686Ser)
c.14041G>A (p.Gly4681Ser)
c.14038G>A (p.Gly4680Ser)
c.14023G>A (p.Gly4675Ser)
c.14053G>A (p.Gly4685Ser)
c.13969G>A (p.Gly4657Ser)
19g.38573234G>CCA405682211RYR1c.992G>C
c.2389G>C
c.2361G>C
c.14056G>C (p.Gly4686Arg)
c.14041G>C (p.Gly4681Arg)
c.14038G>C (p.Gly4680Arg)
c.14023G>C (p.Gly4675Arg)
c.14053G>C (p.Gly4685Arg)
c.13969G>C (p.Gly4657Arg)
19g.38573234G>TCA405682202RYR1c.992G>T
c.2389G>T
c.2361G>T
c.14056G>T (p.Gly4686Cys)
c.14041G>T (p.Gly4681Cys)
c.14038G>T (p.Gly4680Cys)
c.14023G>T (p.Gly4675Cys)
c.14053G>T (p.Gly4685Cys)
c.13969G>T (p.Gly4657Cys)
19g.38573235G>ACA405682214RYR1c.993G>A
c.2390G>A
c.2362G>A
c.14057G>A (p.Gly4686Asp)
c.14042G>A (p.Gly4681Asp)
c.14039G>A (p.Gly4680Asp)
c.14024G>A (p.Gly4675Asp)
c.14054G>A (p.Gly4685Asp)
c.13970G>A (p.Gly4657Asp)
 ClinVar
19g.38573235G>CCA405682216RYR1c.993G>C
c.2390G>C
c.2362G>C
c.14057G>C (p.Gly4686Ala)
c.14042G>C (p.Gly4681Ala)
c.14039G>C (p.Gly4680Ala)
c.14024G>C (p.Gly4675Ala)
c.14054G>C (p.Gly4685Ala)
c.13970G>C (p.Gly4657Ala)
19g.38573235G>TCA405682217RYR1c.993G>T
c.2390G>T
c.2362G>T
c.14057G>T (p.Gly4686Val)
c.14042G>T (p.Gly4681Val)
c.14039G>T (p.Gly4680Val)
c.14024G>T (p.Gly4675Val)
c.14054G>T (p.Gly4685Val)
c.13970G>T (p.Gly4657Val)
19g.38573236C>ACA507245156RYR1c.994C>A
c.2391C>A
c.2363C>A
c.14058C>A (p.Gly4686=)
c.14043C>A (p.Gly4681=)
c.14040C>A (p.Gly4680=)
c.14025C>A (p.Gly4675=)
c.14055C>A (p.Gly4685=)
c.13971C>A (p.Gly4657=)
19g.38573236C=CA2335088991RYR1c.994C=
c.2391C=
c.2363C=
c.14058C= (p.Gly4686=)
c.14043C= (p.Gly4681=)
c.14040C= (p.Gly4680=)
c.14025C= (p.Gly4675=)
c.14055C= (p.Gly4685=)
c.13971C= (p.Gly4657=)
19g.38573236C>GCA10587336RYR1c.994C>G
c.2391C>G
c.2363C>G
c.14058C>G (p.Gly4686=)
c.14043C>G (p.Gly4681=)
c.14040C>G (p.Gly4680=)
c.14025C>G (p.Gly4675=)
c.14055C>G (p.Gly4685=)
c.13971C>G (p.Gly4657=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38573236C>TCA507245157RYR1c.994C>T
c.2391C>T
c.2363C>T
c.14058C>T (p.Gly4686=)
c.14043C>T (p.Gly4681=)
c.14040C>T (p.Gly4680=)
c.14025C>T (p.Gly4675=)
c.14055C>T (p.Gly4685=)
c.13971C>T (p.Gly4657=)
 ClinVar dbSNP gnomAD v4
19g.38573237C>ACA060788RYR1c.995C>A
c.2392C>A
c.2364C>A
c.14059C>A (p.Leu4687Met)
c.14044C>A (p.Leu4682Met)
c.14041C>A (p.Leu4681Met)
c.14026C>A (p.Leu4676Met)
c.14056C>A (p.Leu4686Met)
c.13972C>A (p.Leu4658Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38573237C=CA2335088992RYR1c.995C=
c.2392C=
c.2364C=
c.14059C= (p.Leu4687=)
c.14044C= (p.Leu4682=)
c.14041C= (p.Leu4681=)
c.14026C= (p.Leu4676=)
c.14056C= (p.Leu4686=)
c.13972C= (p.Leu4658=)
19g.38573237C>GCA405682223RYR1c.995C>G
c.2392C>G
c.2364C>G
c.14059C>G (p.Leu4687Val)
c.14044C>G (p.Leu4682Val)
c.14041C>G (p.Leu4681Val)
c.14026C>G (p.Leu4676Val)
c.14056C>G (p.Leu4686Val)
c.13972C>G (p.Leu4658Val)
19g.38573237C>TCA507245158RYR1c.995C>T
c.2392C>T
c.2364C>T
c.14059C>T (p.Leu4687=)
c.14044C>T (p.Leu4682=)
c.14041C>T (p.Leu4681=)
c.14026C>T (p.Leu4676=)
c.14056C>T (p.Leu4686=)
c.13972C>T (p.Leu4658=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38573238T>ACA405682233RYR1c.996T>A
c.2393T>A
c.2365T>A
c.14060T>A (p.Leu4687Gln)
c.14045T>A (p.Leu4682Gln)
c.14042T>A (p.Leu4681Gln)
c.14027T>A (p.Leu4676Gln)
c.14057T>A (p.Leu4686Gln)
c.13973T>A (p.Leu4658Gln)
19g.38573238T>CCA405682243RYR1c.996T>C
c.2393T>C
c.2365T>C
c.14060T>C (p.Leu4687Pro)
c.14045T>C (p.Leu4682Pro)
c.14042T>C (p.Leu4681Pro)
c.14027T>C (p.Leu4676Pro)
c.14057T>C (p.Leu4686Pro)
c.13973T>C (p.Leu4658Pro)
 gnomAD v4
19g.38573238T>GCA405682237RYR1c.996T>G
c.2393T>G
c.2365T>G
c.14060T>G (p.Leu4687Arg)
c.14045T>G (p.Leu4682Arg)
c.14042T>G (p.Leu4681Arg)
c.14027T>G (p.Leu4676Arg)
c.14057T>G (p.Leu4686Arg)
c.13973T>G (p.Leu4658Arg)
19g.38573239G>ACA024102RYR1c.997G>A
c.2394G>A
c.2366G>A
c.14061G>A (p.Leu4687=)
c.14046G>A (p.Leu4682=)
c.14043G>A (p.Leu4681=)
c.14028G>A (p.Leu4676=)
c.14058G>A (p.Leu4686=)
c.13974G>A (p.Leu4658=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38573239G>CCA507245160RYR1c.997G>C
c.2394G>C
c.2366G>C
c.14061G>C (p.Leu4687=)
c.14046G>C (p.Leu4682=)
c.14043G>C (p.Leu4681=)
c.14028G>C (p.Leu4676=)
c.14058G>C (p.Leu4686=)
c.13974G>C (p.Leu4658=)
 ClinVar
19g.38573239G=CA2335088993RYR1c.997G=
c.2394G=
c.2366G=
c.14061G= (p.Leu4687=)
c.14046G= (p.Leu4682=)
c.14043G= (p.Leu4681=)
c.14028G= (p.Leu4676=)
c.14058G= (p.Leu4686=)
c.13974G= (p.Leu4658=)
19g.38573239G>TCA507245159RYR1c.997G>T
c.2394G>T
c.2366G>T
c.14061G>T (p.Leu4687=)
c.14046G>T (p.Leu4682=)
c.14043G>T (p.Leu4681=)
c.14028G>T (p.Leu4676=)
c.14058G>T (p.Leu4686=)
c.13974G>T (p.Leu4658=)
19g.38573240T>ACA405682254RYR1c.998T>A
c.2395T>A
c.2367T>A
c.14062T>A (p.Tyr4688Asn)
c.14047T>A (p.Tyr4683Asn)
c.14044T>A (p.Tyr4682Asn)
c.14029T>A (p.Tyr4677Asn)
c.14059T>A (p.Tyr4687Asn)
c.13975T>A (p.Tyr4659Asn)
19g.38573240T>CCA405682257RYR1c.998T>C
c.2395T>C
c.2367T>C
c.14062T>C (p.Tyr4688His)
c.14047T>C (p.Tyr4683His)
c.14044T>C (p.Tyr4682His)
c.14029T>C (p.Tyr4677His)
c.14059T>C (p.Tyr4687His)
c.13975T>C (p.Tyr4659His)
 COSMIC
19g.38573240T>GCA405682260RYR1c.998T>G
c.2395T>G
c.2367T>G
c.14062T>G (p.Tyr4688Asp)
c.14047T>G (p.Tyr4683Asp)
c.14044T>G (p.Tyr4682Asp)
c.14029T>G (p.Tyr4677Asp)
c.14059T>G (p.Tyr4687Asp)
c.13975T>G (p.Tyr4659Asp)
19g.38573241A>CCA405682288RYR1c.999A>C
c.2396A>C
c.2368A>C
c.14063A>C (p.Tyr4688Ser)
c.14048A>C (p.Tyr4683Ser)
c.14045A>C (p.Tyr4682Ser)
c.14030A>C (p.Tyr4677Ser)
c.14060A>C (p.Tyr4687Ser)
c.13976A>C (p.Tyr4659Ser)
19g.38573241A>GCA405682285RYR1c.999A>G
c.2396A>G
c.2368A>G
c.14063A>G (p.Tyr4688Cys)
c.14048A>G (p.Tyr4683Cys)
c.14045A>G (p.Tyr4682Cys)
c.14030A>G (p.Tyr4677Cys)
c.14060A>G (p.Tyr4687Cys)
c.13976A>G (p.Tyr4659Cys)
 ClinVar
19g.38573241A>TCA405682275RYR1c.999A>T
c.2396A>T
c.2368A>T
c.14063A>T (p.Tyr4688Phe)
c.14048A>T (p.Tyr4683Phe)
c.14045A>T (p.Tyr4682Phe)
c.14030A>T (p.Tyr4677Phe)
c.14060A>T (p.Tyr4687Phe)
c.13976A>T (p.Tyr4659Phe)
19g.38573242C>ACA405682292RYR1c.1000C>A
c.2397C>A
c.2369C>A
c.14064C>A (p.Tyr4688Ter)
c.14049C>A (p.Tyr4683Ter)
c.14046C>A (p.Tyr4682Ter)
c.14031C>A (p.Tyr4677Ter)
c.14061C>A (p.Tyr4687Ter)
c.13977C>A (p.Tyr4659Ter)
19g.38573242C=CA2335088994RYR1c.1000C=
c.2397C=
c.2369C=
c.14064C= (p.Tyr4688=)
c.14049C= (p.Tyr4683=)
c.14046C= (p.Tyr4682=)
c.14031C= (p.Tyr4677=)
c.14061C= (p.Tyr4687=)
c.13977C= (p.Tyr4659=)
19g.38573242C>GCA405682297RYR1c.1000C>G
c.2397C>G
c.2369C>G
c.14064C>G (p.Tyr4688Ter)
c.14049C>G (p.Tyr4683Ter)
c.14046C>G (p.Tyr4682Ter)
c.14031C>G (p.Tyr4677Ter)
c.14061C>G (p.Tyr4687Ter)
c.13977C>G (p.Tyr4659Ter)
19g.38573242C>TCA507245161RYR1c.1000C>T
c.2397C>T
c.2369C>T
c.14064C>T (p.Tyr4688=)
c.14049C>T (p.Tyr4683=)
c.14046C>T (p.Tyr4682=)
c.14031C>T (p.Tyr4677=)
c.14061C>T (p.Tyr4687=)
c.13977C>T (p.Tyr4659=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38573243A=CA2335088995RYR1c.1001A=
c.2398A=
c.2370A=
c.14065A= (p.Ile4689=)
c.14050A= (p.Ile4684=)
c.14047A= (p.Ile4683=)
c.14032A= (p.Ile4678=)
c.14062A= (p.Ile4688=)
c.13978A= (p.Ile4660=)
19g.38573243A>CCA405682300RYR1c.1001A>C
c.2398A>C
c.2370A>C
c.14065A>C (p.Ile4689Leu)
c.14050A>C (p.Ile4684Leu)
c.14047A>C (p.Ile4683Leu)
c.14032A>C (p.Ile4678Leu)
c.14062A>C (p.Ile4688Leu)
c.13978A>C (p.Ile4660Leu)
19g.38573243A>GCA405682309RYR1c.1001A>G
c.2398A>G
c.2370A>G
c.14065A>G (p.Ile4689Val)
c.14050A>G (p.Ile4684Val)
c.14047A>G (p.Ile4683Val)
c.14032A>G (p.Ile4678Val)
c.14062A>G (p.Ile4688Val)
c.13978A>G (p.Ile4660Val)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38573243A>TCA405682313RYR1c.1001A>T
c.2398A>T
c.2370A>T
c.14065A>T (p.Ile4689Phe)
c.14050A>T (p.Ile4684Phe)
c.14047A>T (p.Ile4683Phe)
c.14032A>T (p.Ile4678Phe)
c.14062A>T (p.Ile4688Phe)
c.13978A>T (p.Ile4660Phe)
19g.38573244T>ACA405682326RYR1c.1002T>A
c.2399T>A
c.2371T>A
c.14066T>A (p.Ile4689Asn)
c.14051T>A (p.Ile4684Asn)
c.14048T>A (p.Ile4683Asn)
c.14033T>A (p.Ile4678Asn)
c.14063T>A (p.Ile4688Asn)
c.13979T>A (p.Ile4660Asn)
19g.38573244T>CCA405682328RYR1c.1002T>C
c.2399T>C
c.2371T>C
c.14066T>C (p.Ile4689Thr)
c.14051T>C (p.Ile4684Thr)
c.14048T>C (p.Ile4683Thr)
c.14033T>C (p.Ile4678Thr)
c.14063T>C (p.Ile4688Thr)
c.13979T>C (p.Ile4660Thr)
19g.38573244T>GCA405682330RYR1c.1002T>G
c.2399T>G
c.2371T>G
c.14066T>G (p.Ile4689Ser)
c.14051T>G (p.Ile4684Ser)
c.14048T>G (p.Ile4683Ser)
c.14033T>G (p.Ile4678Ser)
c.14063T>G (p.Ile4688Ser)
c.13979T>G (p.Ile4660Ser)
19g.38573245C>ACA507245162RYR1c.1003C>A
c.2400C>A
c.2372C>A
c.14067C>A (p.Ile4689=)
c.14052C>A (p.Ile4684=)
c.14049C>A (p.Ile4683=)
c.14034C>A (p.Ile4678=)
c.14064C>A (p.Ile4688=)
c.13980C>A (p.Ile4660=)
19g.38573245C=CA2335088996RYR1c.1003C=
c.2400C=
c.2372C=
c.14067C= (p.Ile4689=)
c.14052C= (p.Ile4684=)
c.14049C= (p.Ile4683=)
c.14034C= (p.Ile4678=)
c.14064C= (p.Ile4688=)
c.13980C= (p.Ile4660=)
19g.38573245C>GCA405682334RYR1c.1003C>G
c.2400C>G
c.2372C>G
c.14067C>G (p.Ile4689Met)
c.14052C>G (p.Ile4684Met)
c.14049C>G (p.Ile4683Met)
c.14034C>G (p.Ile4678Met)
c.14064C>G (p.Ile4688Met)
c.13980C>G (p.Ile4660Met)
19g.38573245C>TCA507245163RYR1c.1003C>T
c.2400C>T
c.2372C>T
c.14067C>T (p.Ile4689=)
c.14052C>T (p.Ile4684=)
c.14049C>T (p.Ile4683=)
c.14034C>T (p.Ile4678=)
c.14064C>T (p.Ile4688=)
c.13980C>T (p.Ile4660=)
 dbSNP
19g.38573246A>CCA405682341RYR1c.1004A>C
c.2401A>C
c.2373A>C
c.14068A>C (p.Thr4690Pro)
c.14053A>C (p.Thr4685Pro)
c.14050A>C (p.Thr4684Pro)
c.14035A>C (p.Thr4679Pro)
c.14065A>C (p.Thr4689Pro)
c.13981A>C (p.Thr4661Pro)
19g.38573246A>GCA405682345RYR1c.1004A>G
c.2401A>G
c.2373A>G
c.14068A>G (p.Thr4690Ala)
c.14053A>G (p.Thr4685Ala)
c.14050A>G (p.Thr4684Ala)
c.14035A>G (p.Thr4679Ala)
c.14065A>G (p.Thr4689Ala)
c.13981A>G (p.Thr4661Ala)
19g.38573246A>TCA405682342RYR1c.1004A>T
c.2401A>T
c.2373A>T
c.14068A>T (p.Thr4690Ser)
c.14053A>T (p.Thr4685Ser)
c.14050A>T (p.Thr4684Ser)
c.14035A>T (p.Thr4679Ser)
c.14065A>T (p.Thr4689Ser)
c.13981A>T (p.Thr4661Ser)
19g.38573247C>ACA405682355RYR1c.1005C>A
c.2402C>A
c.2374C>A
c.14069C>A (p.Thr4690Lys)
c.14054C>A (p.Thr4685Lys)
c.14051C>A (p.Thr4684Lys)
c.14036C>A (p.Thr4679Lys)
c.14066C>A (p.Thr4689Lys)
c.13982C>A (p.Thr4661Lys)
19g.38573247C=CA2335088997RYR1c.1005C=
c.2402C=
c.2374C=
c.14069C= (p.Thr4690=)
c.14054C= (p.Thr4685=)
c.14051C= (p.Thr4684=)
c.14036C= (p.Thr4679=)
c.14066C= (p.Thr4689=)
c.13982C= (p.Thr4661=)
19g.38573247C>GCA405682358RYR1c.1005C>G
c.2402C>G
c.2374C>G
c.14069C>G (p.Thr4690Arg)
c.14054C>G (p.Thr4685Arg)
c.14051C>G (p.Thr4684Arg)
c.14036C>G (p.Thr4679Arg)
c.14066C>G (p.Thr4689Arg)
c.13982C>G (p.Thr4661Arg)
19g.38573247C>TCA405682359RYR1c.1005C>T
c.2402C>T
c.2374C>T
c.14069C>T (p.Thr4690Met)
c.14054C>T (p.Thr4685Met)
c.14051C>T (p.Thr4684Met)
c.14036C>T (p.Thr4679Met)
c.14066C>T (p.Thr4689Met)
c.13982C>T (p.Thr4661Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38573248G>ACA060795RYR1c.1006G>A
c.2403G>A
c.2375G>A
c.14070G>A (p.Thr4690=)
c.14055G>A (p.Thr4685=)
c.14052G>A (p.Thr4684=)
c.14037G>A (p.Thr4679=)
c.14067G>A (p.Thr4689=)
c.13983G>A (p.Thr4661=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38573248G>CCA507245164RYR1c.1006G>C
c.2403G>C
c.2375G>C
c.14070G>C (p.Thr4690=)
c.14055G>C (p.Thr4685=)
c.14052G>C (p.Thr4684=)
c.14037G>C (p.Thr4679=)
c.14067G>C (p.Thr4689=)
c.13983G>C (p.Thr4661=)
19g.38573248G=CA2335088998RYR1c.1006G=
c.2403G=
c.2375G=
c.14070G= (p.Thr4690=)
c.14055G= (p.Thr4685=)
c.14052G= (p.Thr4684=)
c.14037G= (p.Thr4679=)
c.14067G= (p.Thr4689=)
c.13983G= (p.Thr4661=)
19g.38573248G>TCA507245165RYR1c.1006G>T
c.2403G>T
c.2375G>T
c.14070G>T (p.Thr4690=)
c.14055G>T (p.Thr4685=)
c.14052G>T (p.Thr4684=)
c.14037G>T (p.Thr4679=)
c.14067G>T (p.Thr4689=)
c.13983G>T (p.Thr4661=)
19g.38573249G>ACA405682360RYR1c.1007G>A
c.2404G>A
c.2376G>A
c.14071G>A (p.Glu4691Lys)
c.14056G>A (p.Glu4686Lys)
c.14053G>A (p.Glu4685Lys)
c.14038G>A (p.Glu4680Lys)
c.14068G>A (p.Glu4690Lys)
c.13984G>A (p.Glu4662Lys)
 dbSNP
19g.38573249G>CCA405682364RYR1c.1007G>C
c.2404G>C
c.2376G>C
c.14071G>C (p.Glu4691Gln)
c.14056G>C (p.Glu4686Gln)
c.14053G>C (p.Glu4685Gln)
c.14038G>C (p.Glu4680Gln)
c.14068G>C (p.Glu4690Gln)
c.13984G>C (p.Glu4662Gln)
19g.38573249G>TCA405682361RYR1c.1007G>T
c.2404G>T
c.2376G>T
c.14071G>T (p.Glu4691Ter)
c.14056G>T (p.Glu4686Ter)
c.14053G>T (p.Glu4685Ter)
c.14038G>T (p.Glu4680Ter)
c.14068G>T (p.Glu4690Ter)
c.13984G>T (p.Glu4662Ter)
19g.38573250A>CCA405682367RYR1c.1008A>C
c.2405A>C
c.2377A>C
c.14072A>C (p.Glu4691Ala)
c.14057A>C (p.Glu4686Ala)
c.14054A>C (p.Glu4685Ala)
c.14039A>C (p.Glu4680Ala)
c.14069A>C (p.Glu4690Ala)
c.13985A>C (p.Glu4662Ala)
19g.38573250A>GCA405682372RYR1c.1008A>G
c.2405A>G
c.2377A>G
c.14072A>G (p.Glu4691Gly)
c.14057A>G (p.Glu4686Gly)
c.14054A>G (p.Glu4685Gly)
c.14039A>G (p.Glu4680Gly)
c.14069A>G (p.Glu4690Gly)
c.13985A>G (p.Glu4662Gly)
19g.38573250A>TCA405682377RYR1c.1008A>T
c.2405A>T
c.2377A>T
c.14072A>T (p.Glu4691Val)
c.14057A>T (p.Glu4686Val)
c.14054A>T (p.Glu4685Val)
c.14039A>T (p.Glu4680Val)
c.14069A>T (p.Glu4690Val)
c.13985A>T (p.Glu4662Val)
 COSMIC

Number of alleles fetched