Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38482995T>GCA2584897659RYR1c.4621-32T>G (n.4621-32T>G)
c.4618-32T>G (n.4618-32T>G)
n.4704-32T>G
 gnomAD v4
19g.38482996T>GCA2576770667RYR1c.4621-31T>G (n.4621-31T>G)
c.4618-31T>G (n.4618-31T>G)
n.4704-31T>G
 gnomAD v4
19g.38482999C>ACA2584897661RYR1c.4621-28C>A (n.4621-28C>A)
c.4618-28C>A (n.4618-28C>A)
n.4704-28C>A
 gnomAD v4
19g.38482999C>TCA2584897660RYR1c.4621-28C>T (n.4621-28C>T)
c.4618-28C>T (n.4618-28C>T)
n.4704-28C>T
 gnomAD v4
19g.38483001C>ACA2584897662RYR1c.4621-26C>A (n.4621-26C>A)
c.4618-26C>A (n.4618-26C>A)
n.4704-26C>A
 gnomAD v4
19g.38483001C=CA2335044913RYR1c.4621-26C= (n.4621-26C=)
c.4618-26C= (n.4618-26C=)
n.4704-26C=
19g.38483001C>TCA308088201RYR1c.4621-26C>T (n.4621-26C>T)
c.4618-26C>T (n.4618-26C>T)
n.4704-26C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38483003C=CA2335044914RYR1c.4621-24C= (n.4621-24C=)
c.4618-24C= (n.4618-24C=)
n.4704-24C=
19g.38483003C>TCA2335044915RYR1c.4621-24C>T (n.4621-24C>T)
c.4618-24C>T (n.4618-24C>T)
n.4704-24C>T
 dbSNP
19g.38483004C=CA2335044916RYR1c.4621-23C= (n.4621-23C=)
c.4618-23C= (n.4618-23C=)
n.4704-23C=
19g.38483004C>TCA882051911RYR1c.4621-23C>T (n.4621-23C>T)
c.4618-23C>T (n.4618-23C>T)
n.4704-23C>T
 dbSNP
19g.38483005T>ACA2736032118RYR1c.4621-22T>A (n.4621-22T>A)
c.4618-22T>A (n.4618-22T>A)
n.4704-22T>A
 dbSNP
19g.38483006C=CA2335044917RYR1c.4621-21C= (n.4621-21C=)
c.4618-21C= (n.4618-21C=)
n.4704-21C=
19g.38483006C>TCA066280RYR1c.4621-21C>T (n.4621-21C>T)
c.4618-21C>T (n.4618-21C>T)
n.4704-21C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38483007G>ACA066277RYR1c.4621-20G>A (n.4621-20G>A)
c.4618-20G>A (n.4618-20G>A)
n.4704-20G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38483007G=CA2335044918RYR1c.4621-20G= (n.4621-20G=)
c.4618-20G= (n.4618-20G=)
n.4704-20G=
19g.38483007G>TCA2335044919RYR1c.4621-20G>T (n.4621-20G>T)
c.4618-20G>T (n.4618-20G>T)
n.4704-20G>T
 dbSNP
19g.38483009C>TCA081587RYR1c.4621-18C>T (n.4621-18C>T)
c.4618-18C>T (n.4618-18C>T)
n.4704-18C>T
19g.38483010C=CA2335044920RYR1c.4621-17C= (n.4621-17C=)
c.4618-17C= (n.4618-17C=)
n.4704-17C=
19g.38483010C>TCA632871224RYR1c.4621-17C>T (n.4621-17C>T)
c.4618-17C>T (n.4618-17C>T)
n.4704-17C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38483011T>CCA2335044922RYR1c.4621-16T>C (n.4621-16T>C)
c.4618-16T>C (n.4618-16T>C)
n.4704-16T>C
 ClinVar dbSNP gnomAD v4
19g.38483011T>GCA2584897663RYR1c.4621-16T>G (n.4621-16T>G)
c.4618-16T>G (n.4618-16T>G)
n.4704-16T>G
 gnomAD v4
19g.38483011T=CA2335044921RYR1c.4621-16T= (n.4621-16T=)
c.4618-16T= (n.4618-16T=)
n.4704-16T=
19g.38483012C>ACA2584897664RYR1c.4621-15C>A (n.4621-15C>A)
c.4618-15C>A (n.4618-15C>A)
n.4704-15C>A
 gnomAD v4
19g.38483012C>GCA2576770668RYR1c.4621-15C>G (n.4621-15C>G)
c.4618-15C>G (n.4618-15C>G)
n.4704-15C>G
19g.38483013T>CCA2584897665RYR1c.4621-14T>C (n.4621-14T>C)
c.4618-14T>C (n.4618-14T>C)
n.4704-14T>C
 gnomAD v4
19g.38483014_38483017delinsTCTCCA2335044923RYR1c.4621-13_4621-10delinsTCTC (n.4621-13_4621-10delinsTCTC)
c.4618-13_4618-10delinsTCTC (n.4618-13_4618-10delinsTCTC)
n.4704-13_4704-10delinsTCTC
19g.38483015C=CA2335044924RYR1c.4621-12C= (n.4621-12C=)
c.4618-12C= (n.4618-12C=)
n.4704-12C=
19g.38483015C>GCA2580096917RYR1c.4621-12C>G (n.4621-12C>G)
c.4618-12C>G (n.4618-12C>G)
n.4704-12C>G
 ClinVar
19g.38483015C>TCA10587313RYR1c.4621-12C>T (n.4621-12C>T)
c.4618-12C>T (n.4618-12C>T)
n.4704-12C>T
 ClinVar dbSNP
19g.38483018_38483020delCA882051924RYR1c.4621-9_4621-7del (n.4621-9_4621-7del)
c.4618-9_4618-7del (n.4618-9_4618-7del)
n.4704-9_4704-7del
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38483017C=CA2335044925RYR1c.4621-10C= (n.4621-10C=)
c.4618-10C= (n.4618-10C=)
n.4704-10C=
19g.38483017C>GCA066274RYR1c.4621-10C>G (n.4621-10C>G)
c.4618-10C>G (n.4618-10C>G)
n.4704-10C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38483018C=CA2335044926RYR1c.4621-9C= (n.4621-9C=)
c.4618-9C= (n.4618-9C=)
n.4704-9C=
19g.38483018C>GCA2825002805RYR1c.4621-9C>G (n.4621-9C>G)
c.4618-9C>G (n.4618-9C>G)
n.4704-9C>G
 ClinVar
19g.38483018C>TCA2335044927RYR1c.4621-9C>T (n.4621-9C>T)
c.4618-9C>T (n.4618-9C>T)
n.4704-9C>T
 dbSNP gnomAD v4
19g.38483020C>GCA081585RYR1c.4621-7C>G (n.4621-7C>G)
c.4618-7C>G (n.4618-7C>G)
n.4704-7C>G
19g.38483022G>ACA2584897666RYR1c.4621-5G>A (n.4621-5G>A)
c.4618-5G>A (n.4618-5G>A)
n.4704-5G>A
 gnomAD v4
19g.38483023C>ACA2584897667RYR1c.4621-4C>A (n.4621-4C>A)
c.4618-4C>A (n.4618-4C>A)
n.4704-4C>A
 gnomAD v4
19g.38483024C>GCA2584897669RYR1c.4621-3C>G (n.4621-3C>G)
c.4618-3C>G (n.4618-3C>G)
n.4704-3C>G
 gnomAD v4
19g.38483024C>TCA2584897668RYR1c.4621-3C>T (n.4621-3C>T)
c.4618-3C>T (n.4618-3C>T)
n.4704-3C>T
 gnomAD v4
19g.38483025A>CCA405649254RYR1c.4621-2A>C (n.4621-2A>C)
c.4618-2A>C (n.4618-2A>C)
n.4704-2A>C
19g.38483025A>GCA405649256RYR1c.4621-2A>G (n.4621-2A>G)
c.4618-2A>G (n.4618-2A>G)
n.4704-2A>G
19g.38483025A>TCA405649258RYR1c.4621-2A>T (n.4621-2A>T)
c.4618-2A>T (n.4618-2A>T)
n.4704-2A>T
 dbSNP
19g.38483026G>ACA405649261RYR1c.4621-1G>A (n.4621-1G>A)
c.4618-1G>A (n.4618-1G>A)
n.4704-1G>A
19g.38483026G>CCA405649262RYR1c.4621-1G>C (n.4621-1G>C)
c.4618-1G>C (n.4618-1G>C)
n.4704-1G>C
19g.38483026G>TCA405649263RYR1c.4621-1G>T (n.4621-1G>T)
c.4618-1G>T (n.4618-1G>T)
n.4704-1G>T
19g.38483027G>ACA066301RYR1c.4621G>A (p.Val1541Met)
c.4618G>A (p.Val1540Met)
n.4704G>A
 dbSNP ExAC gnomAD v2
19g.38483027G>CCA066304RYR1c.4621G>C (p.Val1541Leu)
c.4618G>C (p.Val1540Leu)
n.4704G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38483027G=CA2335044928RYR1c.4621G= (p.Val1541=)
c.4618G= (p.Val1540=)
n.4704G=
19g.38483027G>TCA405649267RYR1c.4621G>T (p.Val1541Leu)
c.4618G>T (p.Val1540Leu)
n.4704G>T
19g.38483028T>ACA405649269RYR1c.4622T>A (p.Val1541Glu)
c.4619T>A (p.Val1540Glu)
n.4705T>A
19g.38483028T>CCA405649273RYR1c.4622T>C (p.Val1541Ala)
c.4619T>C (p.Val1540Ala)
n.4705T>C
19g.38483028T>GCA405649271RYR1c.4622T>G (p.Val1541Gly)
c.4619T>G (p.Val1540Gly)
n.4705T>G
19g.38483029G>ACA507237725RYR1c.4623G>A (p.Val1541=)
c.4620G>A (p.Val1540=)
n.4706G>A
 ClinVar gnomAD v4
19g.38483029G>CCA507237730RYR1c.4623G>C (p.Val1541=)
c.4620G>C (p.Val1540=)
n.4706G>C
19g.38483029G>TCA507237728RYR1c.4623G>T (p.Val1541=)
c.4620G>T (p.Val1540=)
n.4706G>T
19g.38483030G>ACA081593RYR1c.4624G>A (p.Glu1542Lys)
c.4621G>A (p.Glu1541Lys)
n.4707G>A
19g.38483030G>CCA081594RYR1c.4624G>C (p.Glu1542Gln)
c.4621G>C (p.Glu1541Gln)
n.4707G>C
19g.38483030G>TCA405649276RYR1c.4624G>T (p.Glu1542Ter)
c.4621G>T (p.Glu1541Ter)
n.4707G>T
19g.38483031A>CCA405649278RYR1c.4625A>C (p.Glu1542Ala)
c.4622A>C (p.Glu1541Ala)
n.4708A>C
19g.38483031A>GCA405649280RYR1c.4625A>G (p.Glu1542Gly)
c.4622A>G (p.Glu1541Gly)
n.4708A>G
19g.38483031A>TCA405649281RYR1c.4625A>T (p.Glu1542Val)
c.4622A>T (p.Glu1541Val)
n.4708A>T
19g.38483031_38483048delCA2584897670RYR1c.4625_4642del (p.Glu1542_Phe1548delinsVal)
c.4622_4639del (p.Glu1541_Phe1547delinsVal)
n.4708_4725del
 gnomAD v4
19g.38483032A>CCA405649283RYR1c.4626A>C (p.Glu1542Asp)
c.4623A>C (p.Glu1541Asp)
n.4709A>C
19g.38483032A>GCA507237732RYR1c.4626A>G (p.Glu1542=)
c.4623A>G (p.Glu1541=)
n.4709A>G
 ClinVar
19g.38483032A>TCA405649285RYR1c.4626A>T (p.Glu1542Asp)
c.4623A>T (p.Glu1541Asp)
n.4709A>T
19g.38483033C>ACA405649287RYR1c.4627C>A (p.Pro1543Thr)
c.4624C>A (p.Pro1542Thr)
n.4710C>A
 gnomAD v4
19g.38483033C>GCA405649289RYR1c.4627C>G (p.Pro1543Ala)
c.4624C>G (p.Pro1542Ala)
n.4710C>G
 ClinVar dbSNP
19g.38483033C>TCA405649291RYR1c.4627C>T (p.Pro1543Ser)
c.4624C>T (p.Pro1542Ser)
n.4710C>T
 gnomAD v4
19g.38483034C>ACA405649295RYR1c.4628C>A (p.Pro1543His)
c.4625C>A (p.Pro1542His)
n.4711C>A
19g.38483034C>GCA405649296RYR1c.4628C>G (p.Pro1543Arg)
c.4625C>G (p.Pro1542Arg)
n.4711C>G
 gnomAD v4
19g.38483034C>TCA405649293RYR1c.4628C>T (p.Pro1543Leu)
c.4625C>T (p.Pro1542Leu)
n.4711C>T
19g.38483035C>ACA507237734RYR1c.4629C>A (p.Pro1543=)
c.4626C>A (p.Pro1542=)
n.4712C>A
19g.38483035C>GCA507237736RYR1c.4629C>G (p.Pro1543=)
c.4626C>G (p.Pro1542=)
n.4712C>G
19g.38483035C>TCA507237735RYR1c.4629C>T (p.Pro1543=)
c.4626C>T (p.Pro1542=)
n.4712C>T
 ClinVar
19g.38483036A>CCA405649302RYR1c.4630A>C (p.Asn1544His)
c.4627A>C (p.Asn1543His)
n.4713A>C
19g.38483036A>GCA405649298RYR1c.4630A>G (p.Asn1544Asp)
c.4627A>G (p.Asn1543Asp)
n.4713A>G
19g.38483036A>TCA405649300RYR1c.4630A>T (p.Asn1544Tyr)
c.4627A>T (p.Asn1543Tyr)
n.4713A>T
19g.38483036_38483038delinsAACCA2335044929RYR1c.4630_4632delinsAAC (p.Asn1544=)
c.4627_4629delinsAAC (p.Asn1543=)
n.4713_4715delinsAAC
19g.38483037A>CCA405649306RYR1c.4631A>C (p.Asn1544Thr)
c.4628A>C (p.Asn1543Thr)
n.4714A>C
19g.38483037A>GCA405649308RYR1c.4631A>G (p.Asn1544Ser)
c.4628A>G (p.Asn1543Ser)
n.4714A>G
19g.38483037A>TCA405649310RYR1c.4631A>T (p.Asn1544Ile)
c.4628A>T (p.Asn1543Ile)
n.4714A>T
19g.38483039_38483040delCA2335044930RYR1c.4633_4634del (p.Thr1545Ter)
c.4630_4631del (p.Thr1544Ter)
n.4716_4717del
 dbSNP gnomAD v3 gnomAD v4
19g.38483038C>ACA405649312RYR1c.4632C>A (p.Asn1544Lys)
c.4629C>A (p.Asn1543Lys)
n.4715C>A
19g.38483038C=CA2335044931RYR1c.4632C= (p.Asn1544=)
c.4629C= (p.Asn1543=)
n.4715C=
19g.38483038C>GCA405649315RYR1c.4632C>G (p.Asn1544Lys)
c.4629C>G (p.Asn1543Lys)
n.4715C>G
19g.38483038C>TCA066313RYR1c.4632C>T (p.Asn1544=)
c.4629C>T (p.Asn1543=)
n.4715C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38483039A=CA2335044932RYR1c.4633A= (p.Thr1545=)
c.4630A= (p.Thr1544=)
n.4716A=
19g.38483039A>CCA405649319RYR1c.4633A>C (p.Thr1545Pro)
c.4630A>C (p.Thr1544Pro)
n.4716A>C
19g.38483039A>GCA405649320RYR1c.4633A>G (p.Thr1545Ala)
c.4630A>G (p.Thr1544Ala)
n.4716A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38483039A>TCA405649322RYR1c.4633A>T (p.Thr1545Ser)
c.4630A>T (p.Thr1544Ser)
n.4716A>T
 dbSNP gnomAD v2 gnomAD v4
19g.38483040C>ACA405649328RYR1c.4634C>A (p.Thr1545Asn)
c.4631C>A (p.Thr1544Asn)
n.4717C>A
19g.38483040C=CA2335044933RYR1c.4634C= (p.Thr1545=)
c.4631C= (p.Thr1544=)
n.4717C=
19g.38483040C>GCA405649326RYR1c.4634C>G (p.Thr1545Ser)
c.4631C>G (p.Thr1544Ser)
n.4717C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38483040C>TCA405649325RYR1c.4634C>T (p.Thr1545Ile)
c.4631C>T (p.Thr1544Ile)
n.4717C>T
 ClinVar
19g.38483041T>ACA507237746RYR1c.4635T>A (p.Thr1545=)
c.4632T>A (p.Thr1544=)
n.4718T>A
 dbSNP
19g.38483041T>CCA507237748RYR1c.4635T>C (p.Thr1545=)
c.4632T>C (p.Thr1544=)
n.4718T>C
19g.38483041T>GCA507237749RYR1c.4635T>G (p.Thr1545=)
c.4632T>G (p.Thr1544=)
n.4718T>G
19g.38483042A>CCA405649331RYR1c.4636A>C (p.Lys1546Gln)
c.4633A>C (p.Lys1545Gln)
n.4719A>C
19g.38483042A>GCA405649332RYR1c.4636A>G (p.Lys1546Glu)
c.4633A>G (p.Lys1545Glu)
n.4719A>G
19g.38483042A>TCA405649334RYR1c.4636A>T (p.Lys1546Ter)
c.4633A>T (p.Lys1545Ter)
n.4719A>T
19g.38483043A=CA2335044934RYR1c.4637A= (p.Lys1546=)
c.4634A= (p.Lys1545=)
n.4720A=
19g.38483043A>CCA405649336RYR1c.4637A>C (p.Lys1546Thr)
c.4634A>C (p.Lys1545Thr)
n.4720A>C
19g.38483043A>GCA10652416RYR1c.4637A>G (p.Lys1546Arg)
c.4634A>G (p.Lys1545Arg)
n.4720A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38483043A>TCA405649339RYR1c.4637A>T (p.Lys1546Met)
c.4634A>T (p.Lys1545Met)
n.4720A>T
19g.38483044G>ACA507237752RYR1c.4638G>A (p.Lys1546=)
c.4635G>A (p.Lys1545=)
n.4721G>A
 ClinVar dbSNP
19g.38483044G>CCA405649341RYR1c.4638G>C (p.Lys1546Asn)
c.4635G>C (p.Lys1545Asn)
n.4721G>C
19g.38483044G>TCA405649342RYR1c.4638G>T (p.Lys1546Asn)
c.4635G>T (p.Lys1545Asn)
n.4721G>T
19g.38483045C>ACA405649344RYR1c.4639C>A (p.Leu1547Ile)
c.4636C>A (p.Leu1546Ile)
n.4722C>A
19g.38483045C>GCA405649346RYR1c.4639C>G (p.Leu1547Val)
c.4636C>G (p.Leu1546Val)
n.4722C>G
 gnomAD v4
19g.38483045C>TCA507237755RYR1c.4639C>T (p.Leu1547=)
c.4636C>T (p.Leu1546=)
n.4722C>T
19g.38483046T>ACA405649348RYR1c.4640T>A (p.Leu1547Gln)
c.4637T>A (p.Leu1546Gln)
n.4723T>A
19g.38483046T>CCA405649349RYR1c.4640T>C (p.Leu1547Pro)
c.4637T>C (p.Leu1546Pro)
n.4723T>C
19g.38483046T>GCA405649350RYR1c.4640T>G (p.Leu1547Arg)
c.4637T>G (p.Leu1546Arg)
n.4723T>G
19g.38483047A=CA2335044935RYR1c.4641A= (p.Leu1547=)
c.4638A= (p.Leu1546=)
n.4724A=
19g.38483047A>CCA507237759RYR1c.4641A>C (p.Leu1547=)
c.4638A>C (p.Leu1546=)
n.4724A>C
 gnomAD v4
19g.38483047A>GCA308088248RYR1c.4641A>G (p.Leu1547=)
c.4638A>G (p.Leu1546=)
n.4724A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38483047A>TCA507237762RYR1c.4641A>T (p.Leu1547=)
c.4638A>T (p.Leu1546=)
n.4724A>T
19g.38483048T>ACA405649353RYR1c.4642T>A (p.Phe1548Ile)
c.4639T>A (p.Phe1547Ile)
n.4725T>A
19g.38483048T>CCA405649355RYR1c.4642T>C (p.Phe1548Leu)
c.4639T>C (p.Phe1547Leu)
n.4725T>C
 ClinVar gnomAD v4
19g.38483048T>GCA405649352RYR1c.4642T>G (p.Phe1548Val)
c.4639T>G (p.Phe1547Val)
n.4725T>G
19g.38483049_38483050delCA081573RYR1c.4643_4644del (p.Phe1548SerfsTer16)
c.4640_4641del (p.Phe1547SerfsTer16)
n.4726_4727del
19g.38483049T>ACA405649357RYR1c.4643T>A (p.Phe1548Tyr)
c.4640T>A (p.Phe1547Tyr)
n.4726T>A
19g.38483049T>CCA405649359RYR1c.4643T>C (p.Phe1548Ser)
c.4640T>C (p.Phe1547Ser)
n.4726T>C
19g.38483049T>GCA405649361RYR1c.4643T>G (p.Phe1548Cys)
c.4640T>G (p.Phe1547Cys)
n.4726T>G
19g.38483050T>ACA405649363RYR1c.4644T>A (p.Phe1548Leu)
c.4641T>A (p.Phe1547Leu)
n.4727T>A
19g.38483050T>CCA507237769RYR1c.4644T>C (p.Phe1548=)
c.4641T>C (p.Phe1547=)
n.4727T>C
19g.38483050T>GCA405649364RYR1c.4644T>G (p.Phe1548Leu)
c.4641T>G (p.Phe1547Leu)
n.4727T>G
19g.38483051C>ACA405649369RYR1c.4645C>A (p.Pro1549Thr)
c.4642C>A (p.Pro1548Thr)
n.4728C>A
19g.38483051C>GCA405649367RYR1c.4645C>G (p.Pro1549Ala)
c.4642C>G (p.Pro1548Ala)
n.4728C>G
19g.38483051C>TCA405649366RYR1c.4645C>T (p.Pro1549Ser)
c.4642C>T (p.Pro1548Ser)
n.4728C>T
 COSMIC
19g.38483052C>ACA405649371RYR1c.4646C>A (p.Pro1549His)
c.4643C>A (p.Pro1548His)
n.4729C>A
 dbSNP
19g.38483052C>GCA405649373RYR1c.4646C>G (p.Pro1549Arg)
c.4643C>G (p.Pro1548Arg)
n.4729C>G
19g.38483052C>TCA405649374RYR1c.4646C>T (p.Pro1549Leu)
c.4643C>T (p.Pro1548Leu)
n.4729C>T
 gnomAD v4
19g.38483053T>ACA507237777RYR1c.4647T>A (p.Pro1549=)
c.4644T>A (p.Pro1548=)
n.4730T>A
19g.38483053T>CCA507237778RYR1c.4647T>C (p.Pro1549=)
c.4644T>C (p.Pro1548=)
n.4730T>C
 gnomAD v4
19g.38483053T>GCA507237779RYR1c.4647T>G (p.Pro1549=)
c.4644T>G (p.Pro1548=)
n.4730T>G
19g.38483054G>ACA405649377RYR1c.4648G>A (p.Ala1550Thr)
c.4645G>A (p.Ala1549Thr)
n.4731G>A
 ClinVar dbSNP gnomAD v4
19g.38483054G>CCA405649378RYR1c.4648G>C (p.Ala1550Pro)
c.4645G>C (p.Ala1549Pro)
n.4731G>C
19g.38483054G=CA2335044936RYR1c.4648G= (p.Ala1550=)
c.4645G= (p.Ala1549=)
n.4731G=
19g.38483054G>TCA405649380RYR1c.4648G>T (p.Ala1550Ser)
c.4645G>T (p.Ala1549Ser)
n.4731G>T
19g.38483055C>ACA405649382RYR1c.4649C>A (p.Ala1550Asp)
c.4646C>A (p.Ala1549Asp)
n.4732C>A
19g.38483055C>GCA405649384RYR1c.4649C>G (p.Ala1550Gly)
c.4646C>G (p.Ala1549Gly)
n.4732C>G
19g.38483055C>TCA081575RYR1c.4649C>T (p.Ala1550Val)
c.4646C>T (p.Ala1549Val)
n.4732C>T
19g.38483056C>ACA507237785RYR1c.4650C>A (p.Ala1550=)
c.4647C>A (p.Ala1549=)
n.4733C>A
19g.38483056C=CA2335044937RYR1c.4650C= (p.Ala1550=)
c.4647C= (p.Ala1549=)
n.4733C=
19g.38483056C>GCA507237787RYR1c.4650C>G (p.Ala1550=)
c.4647C>G (p.Ala1549=)
n.4733C>G
19g.38483056C>TCA066336RYR1c.4650C>T (p.Ala1550=)
c.4647C>T (p.Ala1549=)
n.4733C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38483057G>ACA066339RYR1c.4651G>A (p.Val1551Ile)
c.4648G>A (p.Val1550Ile)
n.4734G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38483057G>CCA405649388RYR1c.4651G>C (p.Val1551Leu)
c.4648G>C (p.Val1550Leu)
n.4734G>C
19g.38483057G=CA2335044938RYR1c.4651G= (p.Val1551=)
c.4648G= (p.Val1550=)
n.4734G=
19g.38483057G>TCA405649389RYR1c.4651G>T (p.Val1551Phe)
c.4648G>T (p.Val1550Phe)
n.4734G>T
19g.38483058T>ACA405649391RYR1c.4652T>A (p.Val1551Asp)
c.4649T>A (p.Val1550Asp)
n.4735T>A
19g.38483058T>CCA405649393RYR1c.4652T>C (p.Val1551Ala)
c.4649T>C (p.Val1550Ala)
n.4735T>C
19g.38483058T>GCA405649394RYR1c.4652T>G (p.Val1551Gly)
c.4649T>G (p.Val1550Gly)
n.4735T>G
19g.38483059C>ACA507237793RYR1c.4653C>A (p.Val1551=)
c.4650C>A (p.Val1550=)
n.4736C>A
19g.38483059C>GCA507237794RYR1c.4653C>G (p.Val1551=)
c.4650C>G (p.Val1550=)
n.4736C>G
 gnomAD v4
19g.38483059C>TCA081596RYR1c.4653C>T (p.Val1551=)
c.4650C>T (p.Val1550=)
n.4736C>T
 COSMIC
19g.38483060T>ACA405649397RYR1c.4654T>A (p.Phe1552Ile)
c.4651T>A (p.Phe1551Ile)
n.4737T>A
19g.38483060T>CCA405649399RYR1c.4654T>C (p.Phe1552Leu)
c.4651T>C (p.Phe1551Leu)
n.4737T>C
19g.38483060T>GCA405649401RYR1c.4654T>G (p.Phe1552Val)
c.4651T>G (p.Phe1551Val)
n.4737T>G
19g.38483061T>ACA405649403RYR1c.4655T>A (p.Phe1552Tyr)
c.4652T>A (p.Phe1551Tyr)
n.4738T>A
19g.38483061T>CCA405649404RYR1c.4655T>C (p.Phe1552Ser)
c.4652T>C (p.Phe1551Ser)
n.4738T>C
19g.38483061T>GCA405649406RYR1c.4655T>G (p.Phe1552Cys)
c.4652T>G (p.Phe1551Cys)
n.4738T>G
19g.38483062C>ACA405649408RYR1c.4656C>A (p.Phe1552Leu)
c.4653C>A (p.Phe1551Leu)
n.4739C>A
 dbSNP gnomAD v2 gnomAD v4
19g.38483062C=CA2335044939RYR1c.4656C= (p.Phe1552=)
c.4653C= (p.Phe1551=)
n.4739C=
19g.38483062C>GCA405649410RYR1c.4656C>G (p.Phe1552Leu)
c.4653C>G (p.Phe1551Leu)
n.4739C>G
19g.38483062C>TCA507237800RYR1c.4656C>T (p.Phe1552=)
c.4653C>T (p.Phe1551=)
n.4739C>T
 ClinVar dbSNP gnomAD v4
19g.38483063G>ACA066342RYR1c.4657G>A (p.Val1553Ile)
c.4654G>A (p.Val1552Ile)
n.4740G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38483063G>CCA405649414RYR1c.4657G>C (p.Val1553Leu)
c.4654G>C (p.Val1552Leu)
n.4740G>C
19g.38483063G=CA2335044940RYR1c.4657G= (p.Val1553=)
c.4654G= (p.Val1552=)
n.4740G=
19g.38483063G>TCA405649412RYR1c.4657G>T (p.Val1553Phe)
c.4654G>T (p.Val1552Phe)
n.4740G>T
 dbSNP gnomAD v3 gnomAD v4
19g.38483064T>ACA405649417RYR1c.4658T>A (p.Val1553Asp)
c.4655T>A (p.Val1552Asp)
n.4741T>A
19g.38483064T>CCA405649420RYR1c.4658T>C (p.Val1553Ala)
c.4655T>C (p.Val1552Ala)
n.4741T>C
19g.38483064T>GCA405649418RYR1c.4658T>G (p.Val1553Gly)
c.4655T>G (p.Val1552Gly)
n.4741T>G
19g.38483065C>ACA507237811RYR1c.4659C>A (p.Val1553=)
c.4656C>A (p.Val1552=)
n.4742C>A
19g.38483065C=CA2335044941RYR1c.4659C= (p.Val1553=)
c.4656C= (p.Val1552=)
n.4742C=
19g.38483065C>GCA507237806RYR1c.4659C>G (p.Val1553=)
c.4656C>G (p.Val1552=)
n.4742C>G
19g.38483065C>TCA066344RYR1c.4659C>T (p.Val1553=)
c.4656C>T (p.Val1552=)
n.4742C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38483066C>ACA405649423RYR1c.4660C>A (p.Leu1554Met)
c.4657C>A (p.Leu1553Met)
n.4743C>A
19g.38483066C>GCA405649422RYR1c.4660C>G (p.Leu1554Val)
c.4657C>G (p.Leu1553Val)
n.4743C>G
19g.38483066C>TCA507237814RYR1c.4660C>T (p.Leu1554=)
c.4657C>T (p.Leu1553=)
n.4743C>T
19g.38483067T>ACA405649426RYR1c.4661T>A (p.Leu1554Gln)
c.4658T>A (p.Leu1553Gln)
n.4744T>A
19g.38483067T>CCA405649428RYR1c.4661T>C (p.Leu1554Pro)
c.4658T>C (p.Leu1553Pro)
n.4744T>C
19g.38483067T>GCA405649429RYR1c.4661T>G (p.Leu1554Arg)
c.4658T>G (p.Leu1553Arg)
n.4744T>G
 dbSNP gnomAD v2 gnomAD v4
19g.38483067T=CA2335044942RYR1c.4661T= (p.Leu1554=)
c.4658T= (p.Leu1553=)
n.4744T=
19g.38483068G>ACA507237816RYR1c.4662G>A (p.Leu1554=)
c.4659G>A (p.Leu1553=)
n.4745G>A
19g.38483068G>CCA507237818RYR1c.4662G>C (p.Leu1554=)
c.4659G>C (p.Leu1553=)
n.4745G>C
19g.38483068G>TCA507237819RYR1c.4662G>T (p.Leu1554=)
c.4659G>T (p.Leu1553=)
n.4745G>T
19g.38483069C>ACA405649432RYR1c.4663C>A (p.Pro1555Thr)
c.4660C>A (p.Pro1554Thr)
n.4746C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38483069C=CA2335044943RYR1c.4663C= (p.Pro1555=)
c.4660C= (p.Pro1554=)
n.4746C=
19g.38483069C>GCA405649433RYR1c.4663C>G (p.Pro1555Ala)
c.4660C>G (p.Pro1554Ala)
n.4746C>G
19g.38483069C>TCA405649434RYR1c.4663C>T (p.Pro1555Ser)
c.4660C>T (p.Pro1554Ser)
n.4746C>T
 gnomAD v4
19g.38483071delCA2697556497RYR1c.4665del (p.Thr1556ProfsTer?)
c.4662del (p.Thr1555ProfsTer?)
n.4748del
 ClinVar
19g.38483070C>ACA405649436RYR1c.4664C>A (p.Pro1555His)
c.4661C>A (p.Pro1554His)
n.4747C>A
19g.38483070C=CA2335044944RYR1c.4664C= (p.Pro1555=)
c.4661C= (p.Pro1554=)
n.4747C=
19g.38483070C>GCA405649438RYR1c.4664C>G (p.Pro1555Arg)
c.4661C>G (p.Pro1554Arg)
n.4747C>G
19g.38483070C>TCA405649440RYR1c.4664C>T (p.Pro1555Leu)
c.4661C>T (p.Pro1554Leu)
n.4747C>T
 ClinVar dbSNP
19g.38483071C>ACA066351RYR1c.4665C>A (p.Pro1555=)
c.4662C>A (p.Pro1554=)
n.4748C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38483071C=CA2335044945RYR1c.4665C= (p.Pro1555=)
c.4662C= (p.Pro1554=)
n.4748C=
19g.38483071C>GCA507237824RYR1c.4665C>G (p.Pro1555=)
c.4662C>G (p.Pro1554=)
n.4748C>G
19g.38483071C>TCA066352RYR1c.4665C>T (p.Pro1555=)
c.4662C>T (p.Pro1554=)
n.4748C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38483072A=CA2335044946RYR1c.4666A= (p.Thr1556=)
c.4663A= (p.Thr1555=)
n.4749A=
19g.38483072A>CCA405649443RYR1c.4666A>C (p.Thr1556Pro)
c.4663A>C (p.Thr1555Pro)
n.4749A>C
19g.38483072A>GCA081583RYR1c.4666A>G (p.Thr1556Ala)
c.4663A>G (p.Thr1555Ala)
n.4749A>G
 dbSNP gnomAD v2 gnomAD v4
19g.38483072A>TCA405649445RYR1c.4666A>T (p.Thr1556Ser)
c.4663A>T (p.Thr1555Ser)
n.4749A>T
19g.38483073C>ACA405649448RYR1c.4667C>A (p.Thr1556Asn)
c.4664C>A (p.Thr1555Asn)
n.4750C>A
19g.38483073C>GCA405649450RYR1c.4667C>G (p.Thr1556Ser)
c.4664C>G (p.Thr1555Ser)
n.4750C>G
19g.38483073C>TCA405649452RYR1c.4667C>T (p.Thr1556Ile)
c.4664C>T (p.Thr1555Ile)
n.4750C>T
 gnomAD v4
19g.38483074C>ACA081599RYR1c.4668C>A (p.Thr1556=)
c.4665C>A (p.Thr1555=)
n.4751C>A
 gnomAD v4
19g.38483074C>GCA507237828RYR1c.4668C>G (p.Thr1556=)
c.4665C>G (p.Thr1555=)
n.4751C>G
19g.38483074C>TCA081600RYR1c.4668C>T (p.Thr1556=)
c.4665C>T (p.Thr1555=)
n.4751C>T
19g.38483075C>ACA405649454RYR1c.4669C>A (p.His1557Asn)
c.4666C>A (p.His1556Asn)
n.4752C>A
 gnomAD v4
19g.38483075C>GCA405649456RYR1c.4669C>G (p.His1557Asp)
c.4666C>G (p.His1556Asp)
n.4752C>G
19g.38483075C>TCA405649458RYR1c.4669C>T (p.His1557Tyr)
c.4666C>T (p.His1556Tyr)
n.4752C>T
19g.38483076A>CCA405649460RYR1c.4670A>C (p.His1557Pro)
c.4667A>C (p.His1556Pro)
n.4753A>C
19g.38483076A>GCA405649462RYR1c.4670A>G (p.His1557Arg)
c.4667A>G (p.His1556Arg)
n.4753A>G
19g.38483076A>TCA405649464RYR1c.4670A>T (p.His1557Leu)
c.4667A>T (p.His1556Leu)
n.4753A>T
19g.38483077C>ACA405649468RYR1c.4671C>A (p.His1557Gln)
c.4668C>A (p.His1556Gln)
n.4754C>A
19g.38483077C=CA2335044947RYR1c.4671C= (p.His1557=)
c.4668C= (p.His1556=)
n.4754C=
19g.38483077C>GCA405649466RYR1c.4671C>G (p.His1557Gln)
c.4668C>G (p.His1556Gln)
n.4754C>G
19g.38483077C>TCA308088293RYR1c.4671C>T (p.His1557=)
c.4668C>T (p.His1556=)
n.4754C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38483078C>ACA405649470RYR1c.4672C>A (p.Gln1558Lys)
c.4669C>A (p.Gln1557Lys)
n.4755C>A
19g.38483078C=CA2335044948RYR1c.4672C= (p.Gln1558=)
c.4669C= (p.Gln1557=)
n.4755C=
19g.38483078C>GCA405649472RYR1c.4672C>G (p.Gln1558Glu)
c.4669C>G (p.Gln1557Glu)
n.4755C>G
 gnomAD v4
19g.38483078C>TCA16620832RYR1c.4672C>T (p.Gln1558Ter)
c.4669C>T (p.Gln1557Ter)
n.4755C>T
 ClinVar dbSNP
19g.38483079A=CA2335044949RYR1c.4673A= (p.Gln1558=)
c.4670A= (p.Gln1557=)
n.4756A=
19g.38483079A>CCA405649473RYR1c.4673A>C (p.Gln1558Pro)
c.4670A>C (p.Gln1557Pro)
n.4756A>C
 gnomAD v4
19g.38483079A>GCA405649474RYR1c.4673A>G (p.Gln1558Arg)
c.4670A>G (p.Gln1557Arg)
n.4756A>G
 gnomAD v4
19g.38483079A>TCA405649475RYR1c.4673A>T (p.Gln1558Leu)
c.4670A>T (p.Gln1557Leu)
n.4756A>T
19g.38483080G>ACA507237844RYR1c.4674G>A (p.Gln1558=)
c.4671G>A (p.Gln1557=)
n.4757G>A
19g.38483080G>CCA405649478RYR1c.4674G>C (p.Gln1558His)
c.4671G>C (p.Gln1557His)
n.4757G>C
19g.38483080G>TCA405649480RYR1c.4674G>T (p.Gln1558His)
c.4671G>T (p.Gln1557His)
n.4757G>T
19g.38483080dupCA066354RYR1c.4674dup (p.Asn1559GlufsTer6)
c.4671dup (p.Asn1558GlufsTer6)
n.4757dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38483081A>CCA405649482RYR1c.4675A>C (p.Asn1559His)
c.4672A>C (p.Asn1558His)
n.4758A>C
19g.38483081A>GCA405649484RYR1c.4675A>G (p.Asn1559Asp)
c.4672A>G (p.Asn1558Asp)
n.4758A>G
19g.38483081A>TCA405649485RYR1c.4675A>T (p.Asn1559Tyr)
c.4672A>T (p.Asn1558Tyr)
n.4758A>T
19g.38483081_38483082insCACACCCAACACCA2814345254RYR1c.4675_4676insCACACCCAACAC (p.Asn1559delinsThrHisProThrHis)
c.4672_4673insCACACCCAACAC (p.Asn1558delinsThrHisProThrHis)
n.4758_4759insCACACCCAACAC
19g.38483082A=CA2335044950RYR1c.4676A= (p.Asn1559=)
c.4673A= (p.Asn1558=)
n.4759A=
19g.38483082A>CCA405649491RYR1c.4676A>C (p.Asn1559Thr)
c.4673A>C (p.Asn1558Thr)
n.4759A>C
19g.38483082A>GCA405649488RYR1c.4676A>G (p.Asn1559Ser)
c.4673A>G (p.Asn1558Ser)
n.4759A>G
19g.38483082A>TCA405649489RYR1c.4676A>T (p.Asn1559Ile)
c.4673A>T (p.Asn1558Ile)
n.4759A>T
 ClinVar dbSNP
19g.38483082_38483083insGCA081601RYR1c.4676_4677insG (p.Asn1559LysfsTer6)
c.4673_4674insG (p.Asn1558LysfsTer6)
n.4759_4760insG
19g.38483083C>ACA405649493RYR1c.4677C>A (p.Asn1559Lys)
c.4674C>A (p.Asn1558Lys)
n.4760C>A
19g.38483083C=CA2335044951RYR1c.4677C= (p.Asn1559=)
c.4674C= (p.Asn1558=)
n.4760C=
19g.38483083C>GCA405649495RYR1c.4677C>G (p.Asn1559Lys)
c.4674C>G (p.Asn1558Lys)
n.4760C>G
19g.38483083C>TCA066357RYR1c.4677C>T (p.Asn1559=)
c.4674C>T (p.Asn1558=)
n.4760C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38483084G>ACA066359RYR1c.4678G>A (p.Val1560Ile)
c.4675G>A (p.Val1559Ile)
n.4761G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38483084G>CCA405649498RYR1c.4678G>C (p.Val1560Leu)
c.4675G>C (p.Val1559Leu)
n.4761G>C
19g.38483084G=CA2335044952RYR1c.4678G= (p.Val1560=)
c.4675G= (p.Val1559=)
n.4761G=
19g.38483084G>TCA405649499RYR1c.4678G>T (p.Val1560Phe)
c.4675G>T (p.Val1559Phe)
n.4761G>T
19g.38483085T>ACA405649501RYR1c.4679T>A (p.Val1560Asp)
c.4676T>A (p.Val1559Asp)
n.4762T>A
19g.38483085T>CCA405649503RYR1c.4679T>C (p.Val1560Ala)
c.4676T>C (p.Val1559Ala)
n.4762T>C
19g.38483085T>GCA405649504RYR1c.4679T>G (p.Val1560Gly)
c.4676T>G (p.Val1559Gly)
n.4762T>G
19g.38483086C>ACA507237860RYR1c.4680C>A (p.Val1560=)
c.4677C>A (p.Val1559=)
n.4763C>A
19g.38483086C=CA2335044953RYR1c.4680C= (p.Val1560=)
c.4677C= (p.Val1559=)
n.4763C=
19g.38483086C>GCA507237861RYR1c.4680C>G (p.Val1560=)
c.4677C>G (p.Val1559=)
n.4763C>G
19g.38483086C>TCA081602RYR1c.4680C>T (p.Val1560=)
c.4677C>T (p.Val1559=)
n.4763C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38483087A>CCA405649507RYR1c.4681A>C (p.Ile1561Leu)
c.4678A>C (p.Ile1560Leu)
n.4764A>C
19g.38483087A>GCA405649508RYR1c.4681A>G (p.Ile1561Val)
c.4678A>G (p.Ile1560Val)
n.4764A>G
19g.38483087A>TCA405649510RYR1c.4681A>T (p.Ile1561Phe)
c.4678A>T (p.Ile1560Phe)
n.4764A>T
19g.38483088T>ACA16043095RYR1c.4682T>A (p.Ile1561Asn)
c.4679T>A (p.Ile1560Asn)
n.4765T>A
 ClinVar dbSNP
19g.38483088T>CCA405649514RYR1c.4682T>C (p.Ile1561Thr)
c.4679T>C (p.Ile1560Thr)
n.4765T>C
19g.38483088T>GCA405649512RYR1c.4682T>G (p.Ile1561Ser)
c.4679T>G (p.Ile1560Ser)
n.4765T>G
19g.38483088T=CA2335044954RYR1c.4682T= (p.Ile1561=)
c.4679T= (p.Ile1560=)
n.4765T=
19g.38483089C>ACA507237864RYR1c.4683C>A (p.Ile1561=)
c.4680C>A (p.Ile1560=)
n.4766C>A
19g.38483089C>GCA405649516RYR1c.4683C>G (p.Ile1561Met)
c.4680C>G (p.Ile1560Met)
n.4766C>G
19g.38483089C>TCA507237865RYR1c.4683C>T (p.Ile1561=)
c.4680C>T (p.Ile1560=)
n.4766C>T
19g.38483090C>ACA405649518RYR1c.4684C>A (p.Gln1562Lys)
c.4681C>A (p.Gln1561Lys)
n.4767C>A
19g.38483090C>GCA405649520RYR1c.4684C>G (p.Gln1562Glu)
c.4681C>G (p.Gln1561Glu)
n.4767C>G
19g.38483090C>TCA405649522RYR1c.4684C>T (p.Gln1562Ter)
c.4681C>T (p.Gln1561Ter)
n.4767C>T
19g.38483091A=CA2335044955RYR1c.4685A= (p.Gln1562=)
c.4682A= (p.Gln1561=)
n.4768A=
19g.38483091A>CCA405649524RYR1c.4685A>C (p.Gln1562Pro)
c.4682A>C (p.Gln1561Pro)
n.4768A>C
19g.38483091A>GCA308088312RYR1c.4685A>G (p.Gln1562Arg)
c.4682A>G (p.Gln1561Arg)
n.4768A>G
 dbSNP gnomAD v3 gnomAD v4
19g.38483091A>TCA405649526RYR1c.4685A>T (p.Gln1562Leu)
c.4682A>T (p.Gln1561Leu)
n.4768A>T
19g.38483092G>ACA507237867RYR1c.4686G>A (p.Gln1562=)
c.4683G>A (p.Gln1561=)
n.4769G>A
19g.38483092G>CCA405649529RYR1c.4686G>C (p.Gln1562His)
c.4683G>C (p.Gln1561His)
n.4769G>C
19g.38483092G>TCA405649530RYR1c.4686G>T (p.Gln1562His)
c.4683G>T (p.Gln1561His)
n.4769G>T
 ClinVar
19g.38483093T>ACA405649532RYR1c.4687T>A (p.Phe1563Ile)
c.4684T>A (p.Phe1562Ile)
n.4770T>A
19g.38483093T>CCA405649534RYR1c.4687T>C (p.Phe1563Leu)
c.4684T>C (p.Phe1562Leu)
n.4770T>C
19g.38483093T>GCA405649536RYR1c.4687T>G (p.Phe1563Val)
c.4684T>G (p.Phe1562Val)
n.4770T>G
19g.38483094T>ACA405649541RYR1c.4688T>A (p.Phe1563Tyr)
c.4685T>A (p.Phe1562Tyr)
n.4771T>A
19g.38483094T>CCA405649539RYR1c.4688T>C (p.Phe1563Ser)
c.4685T>C (p.Phe1562Ser)
n.4771T>C
19g.38483094T>GCA405649537RYR1c.4688T>G (p.Phe1563Cys)
c.4685T>G (p.Phe1562Cys)
n.4771T>G
19g.38483095T>ACA405649543RYR1c.4689T>A (p.Phe1563Leu)
c.4686T>A (p.Phe1562Leu)
n.4772T>A
19g.38483095T>CCA507237871RYR1c.4689T>C (p.Phe1563=)
c.4686T>C (p.Phe1562=)
n.4772T>C
19g.38483095T>GCA405649545RYR1c.4689T>G (p.Phe1563Leu)
c.4686T>G (p.Phe1562Leu)
n.4772T>G

Number of alleles fetched