Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38496354dupCA068530RYR1c.6663+25dup (n.6663+25dup)
c.6660+25dup (n.6660+25dup)
c.115+25dup
n.6746+25dup
 dbSNP ExAC gnomAD v2
19g.38496352G>ACA2584899580RYR1c.6663+23G>A (n.6663+23G>A)
c.6660+23G>A (n.6660+23G>A)
c.115+23G>A
n.6746+23G>A
 gnomAD v4
19g.38496353G>ACA2814345950RYR1c.6663+24G>A (n.6663+24G>A)
c.6660+24G>A (n.6660+24G>A)
c.115+24G>A
n.6746+24G>A
19g.38496353G=CA2335051198RYR1c.6663+24G= (n.6663+24G=)
c.6660+24G= (n.6660+24G=)
c.115+24G=
n.6746+24G=
19g.38496353G>TCA068531RYR1c.6663+24G>T (n.6663+24G>T)
c.6660+24G>T (n.6660+24G>T)
c.115+24G>T
n.6746+24G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496354G>ACA2584899582RYR1c.6663+25G>A (n.6663+25G>A)
c.6660+25G>A (n.6660+25G>A)
c.115+25G>A
n.6746+25G>A
 gnomAD v4
19g.38496355A=CA2335051199RYR1c.6663+26A= (n.6663+26A=)
c.6660+26A= (n.6660+26A=)
c.115+26A=
n.6746+26A=
19g.38496355A>GCA068533RYR1c.6663+26A>G (n.6663+26A>G)
c.6660+26A>G (n.6660+26A>G)
c.115+26A>G
n.6746+26A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496355A>TCA068537RYR1c.6663+26A>T (n.6663+26A>T)
c.6660+26A>T (n.6660+26A>T)
c.115+26A>T
n.6746+26A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496356G>ACA2584899583RYR1c.6663+27G>A (n.6663+27G>A)
c.6660+27G>A (n.6660+27G>A)
c.115+27G>A
n.6746+27G>A
 gnomAD v4
19g.38496358T>ACA2335051201RYR1c.6663+29T>A (n.6663+29T>A)
c.6660+29T>A (n.6660+29T>A)
c.115+29T>A
n.6746+29T>A
 dbSNP
19g.38496358T=CA2335051200RYR1c.6663+29T= (n.6663+29T=)
c.6660+29T= (n.6660+29T=)
c.115+29T=
n.6746+29T=
19g.38496359C>ACA882058982RYR1c.6663+30C>A (n.6663+30C>A)
c.6660+30C>A (n.6660+30C>A)
c.115+30C>A
n.6746+30C>A
 dbSNP gnomAD v3 gnomAD v4
19g.38496359C=CA2335051202RYR1c.6663+30C= (n.6663+30C=)
c.6660+30C= (n.6660+30C=)
c.115+30C=
n.6746+30C=
19g.38496359C>TCA2584899584RYR1c.6663+30C>T (n.6663+30C>T)
c.6660+30C>T (n.6660+30C>T)
c.115+30C>T
n.6746+30C>T
 gnomAD v4
19g.38496359_38496369delinsCAGGGGAGGCACA2335051203RYR1c.6663+30_6664-40delinsCAGGGGAGGCA (n.6663+30_6664-40delinsCAGGGGAGGCA)
c.6660+30_6661-40delinsCAGGGGAGGCA (n.6660+30_6661-40delinsCAGGGGAGGCA)
c.115+30_116-40delinsCAGGGGAGGCA
n.6746+30_6747-40delinsCAGGGGAGGCA
19g.38496360A>CCA2584899585RYR1c.6663+31A>C (n.6663+31A>C)
c.6660+31A>C (n.6660+31A>C)
c.115+31A>C
n.6746+31A>C
 gnomAD v4
19g.38496360A>GCA2576770964RYR1c.6663+31A>G (n.6663+31A>G)
c.6660+31A>G (n.6660+31A>G)
c.115+31A>G
n.6746+31A>G
19g.38496360_38496361delCA2576770963RYR1c.6663+31_6663+32del (n.6663+31_6663+32del)
c.6660+31_6660+32del (n.6660+31_6660+32del)
c.115+31_115+32del
n.6746+31_6746+32del
 gnomAD v4
19g.38496360_38496369delCA068541RYR1c.6663+31_6664-40del (n.6663+31_6664-40del)
c.6660+31_6661-40del (n.6660+31_6661-40del)
c.115+31_116-40del
n.6746+31_6747-40del
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496362G>ACA2814345951RYR1c.6663+33G>A (n.6663+33G>A)
c.6660+33G>A (n.6660+33G>A)
c.115+33G>A
n.6746+33G>A
19g.38496363G>ACA633066109RYR1c.6663+34G>A (n.6663+34G>A)
c.6660+34G>A (n.6660+34G>A)
c.115+34G>A
n.6746+34G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38496363G>CCA633066110RYR1c.6663+34G>C (n.6663+34G>C)
c.6660+34G>C (n.6660+34G>C)
c.115+34G>C
n.6746+34G>C
 dbSNP gnomAD v2 gnomAD v4
19g.38496363G=CA2335051204RYR1c.6663+34G= (n.6663+34G=)
c.6660+34G= (n.6660+34G=)
c.115+34G=
n.6746+34G=
19g.38496364G>ACA633066111RYR1c.6663+35G>A (n.6663+35G>A)
c.6660+35G>A (n.6660+35G>A)
c.115+35G>A
n.6746+35G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38496364G>CCA2576770965RYR1c.6663+35G>C (n.6663+35G>C)
c.6660+35G>C (n.6660+35G>C)
c.115+35G>C
n.6746+35G>C
19g.38496364G=CA2335051205RYR1c.6663+35G= (n.6663+35G=)
c.6660+35G= (n.6660+35G=)
c.115+35G=
n.6746+35G=
19g.38496365A=CA2335051206RYR1c.6663+36A= (n.6663+36A=)
c.6660+36A= (n.6660+36A=)
c.115+36A=
n.6746+36A=
19g.38496366G>ACA2576770966RYR1c.6663+37G>A (n.6663+37G>A)
c.6660+37G>A (n.6660+37G>A)
c.115+37G>A
n.6746+37G>A
19g.38496367dupCA995713939RYR1c.6663+38dup (n.6663+38dup)
c.6660+38dup (n.6660+38dup)
c.115+38dup
n.6746+38dup
 dbSNP gnomAD v3 gnomAD v4
19g.38496367G>ACA068543RYR1c.6663+38G>A (n.6663+38G>A)
c.6660+38G>A (n.6660+38G>A)
c.115+38G>A
n.6746+38G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496367G>CCA2584899586RYR1c.6663+38G>C (n.6663+38G>C)
c.6660+38G>C (n.6660+38G>C)
c.115+38G>C
n.6746+38G>C
 gnomAD v4
19g.38496367G=CA2335051207RYR1c.6663+38G= (n.6663+38G=)
c.6660+38G= (n.6660+38G=)
c.115+38G=
n.6746+38G=
19g.38496368C>TCA2584899587RYR1c.6663+39C>T (n.6663+39C>T)
c.6660+39C>T (n.6660+39C>T)
c.115+39C>T
n.6746+39C>T
 gnomAD v4
19g.38496373_38496387delCA2584899588RYR1c.6664-36_6664-22del (n.6664-36_6664-22del)
c.6661-36_6661-22del (n.6661-36_6661-22del)
c.116-36_116-22del
n.6747-36_6747-22del
 gnomAD v4
19g.38496372C=CA2335051208RYR1c.6664-37C= (n.6664-37C=)
c.6661-37C= (n.6661-37C=)
c.116-37C=
n.6747-37C=
19g.38496372C>TCA633066112RYR1c.6664-37C>T (n.6664-37C>T)
c.6661-37C>T (n.6661-37C>T)
c.116-37C>T
n.6747-37C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38496377A=CA2335051209RYR1c.6664-32A= (n.6664-32A=)
c.6661-32A= (n.6661-32A=)
c.116-32A=
n.6747-32A=
19g.38496377A>CCA2581382498RYR1c.6664-32A>C (n.6664-32A>C)
c.6661-32A>C (n.6661-32A>C)
c.116-32A>C
n.6747-32A>C
19g.38496377A>GCA068554RYR1c.6664-32A>G (n.6664-32A>G)
c.6661-32A>G (n.6661-32A>G)
c.116-32A>G
n.6747-32A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496377A>TCA2581382497RYR1c.6664-32A>T (n.6664-32A>T)
c.6661-32A>T (n.6661-32A>T)
c.116-32A>T
n.6747-32A>T
19g.38496378G>ACA633066113RYR1c.6664-31G>A (n.6664-31G>A)
c.6661-31G>A (n.6661-31G>A)
c.116-31G>A
n.6747-31G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38496378G=CA2335051210RYR1c.6664-31G= (n.6664-31G=)
c.6661-31G= (n.6661-31G=)
c.116-31G=
n.6747-31G=
19g.38496379G>CCA882059010RYR1c.6664-30G>C (n.6664-30G>C)
c.6661-30G>C (n.6661-30G>C)
c.116-30G>C
n.6747-30G>C
 dbSNP gnomAD v3 gnomAD v4
19g.38496379G=CA2335051211RYR1c.6664-30G= (n.6664-30G=)
c.6661-30G= (n.6661-30G=)
c.116-30G=
n.6747-30G=
19g.38496385_38496409delCA2584899589RYR1c.6664-24_6664del
c.6661-24_6661del
c.116-24_116del
n.6747-24_6747del
 gnomAD v4
19g.38496382A>CCA2814345952RYR1c.6664-27A>C (n.6664-27A>C)
c.6661-27A>C (n.6661-27A>C)
c.116-27A>C
n.6747-27A>C
19g.38496383G>ACA2584899590RYR1c.6664-26G>A (n.6664-26G>A)
c.6661-26G>A (n.6661-26G>A)
c.116-26G>A
n.6747-26G>A
 gnomAD v4
19g.38496385C>ACA2584899591RYR1c.6664-24C>A (n.6664-24C>A)
c.6661-24C>A (n.6661-24C>A)
c.116-24C>A
n.6747-24C>A
 gnomAD v4
19g.38496385C=CA2335051212RYR1c.6664-24C= (n.6664-24C=)
c.6661-24C= (n.6661-24C=)
c.116-24C=
n.6747-24C=
19g.38496385C>TCA2335051213RYR1c.6664-24C>T (n.6664-24C>T)
c.6661-24C>T (n.6661-24C>T)
c.116-24C>T
n.6747-24C>T
 dbSNP
19g.38496386C>ACA068552RYR1c.6664-23C>A (n.6664-23C>A)
c.6661-23C>A (n.6661-23C>A)
c.116-23C>A
n.6747-23C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496386C=CA2335051214RYR1c.6664-23C= (n.6664-23C=)
c.6661-23C= (n.6661-23C=)
c.116-23C=
n.6747-23C=
19g.38496386C>GCA2584899592RYR1c.6664-23C>G (n.6664-23C>G)
c.6661-23C>G (n.6661-23C>G)
c.116-23C>G
n.6747-23C>G
 gnomAD v4
19g.38496387C=CA2335051216RYR1c.6664-22C= (n.6664-22C=)
c.6661-22C= (n.6661-22C=)
c.116-22C=
n.6747-22C=
19g.38496387C>TCA2335051215RYR1c.6664-22C>T (n.6664-22C>T)
c.6661-22C>T (n.6661-22C>T)
c.116-22C>T
n.6747-22C>T
 dbSNP
19g.38496388T>GCA068549RYR1c.6664-21T>G (n.6664-21T>G)
c.6661-21T>G (n.6661-21T>G)
c.116-21T>G
n.6747-21T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496388T=CA2335051217RYR1c.6664-21T= (n.6664-21T=)
c.6661-21T= (n.6661-21T=)
c.116-21T=
n.6747-21T=
19g.38496389G>ACA2584899593RYR1c.6664-20G>A (n.6664-20G>A)
c.6661-20G>A (n.6661-20G>A)
c.116-20G>A
n.6747-20G>A
 ClinVar gnomAD v4
19g.38496389G>TCA2584899594RYR1c.6664-20G>T (n.6664-20G>T)
c.6661-20G>T (n.6661-20G>T)
c.116-20G>T
n.6747-20G>T
 gnomAD v4
19g.38496390A>GCA2517919071RYR1c.6664-19A>G (n.6664-19A>G)
c.6661-19A>G (n.6661-19A>G)
c.116-19A>G
n.6747-19A>G
 ClinVar dbSNP gnomAD v4
19g.38496390A>TCA2584899595RYR1c.6664-19A>T (n.6664-19A>T)
c.6661-19A>T (n.6661-19A>T)
c.116-19A>T
n.6747-19A>T
 gnomAD v4
19g.38496391C>ACA2576770967RYR1c.6664-18C>A (n.6664-18C>A)
c.6661-18C>A (n.6661-18C>A)
c.116-18C>A
n.6747-18C>A
 gnomAD v4
19g.38496391C>TCA2584899596RYR1c.6664-18C>T (n.6664-18C>T)
c.6661-18C>T (n.6661-18C>T)
c.116-18C>T
n.6747-18C>T
 gnomAD v4
19g.38496393A=CA2335051218RYR1c.6664-16A= (n.6664-16A=)
c.6661-16A= (n.6661-16A=)
c.116-16A=
n.6747-16A=
19g.38496393A>CCA068547RYR1c.6664-16A>C (n.6664-16A>C)
c.6661-16A>C (n.6661-16A>C)
c.116-16A>C
n.6747-16A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496393A>GCA2584899597RYR1c.6664-16A>G (n.6664-16A>G)
c.6661-16A>G (n.6661-16A>G)
c.116-16A>G
n.6747-16A>G
 gnomAD v4
19g.38496393A>TCA995713946RYR1c.6664-16A>T (n.6664-16A>T)
c.6661-16A>T (n.6661-16A>T)
c.116-16A>T
n.6747-16A>T
 dbSNP gnomAD v3 gnomAD v4
19g.38496394C>TCA2584899598RYR1c.6664-15C>T (n.6664-15C>T)
c.6661-15C>T (n.6661-15C>T)
c.116-15C>T
n.6747-15C>T
 gnomAD v4
19g.38496395C>TCA2584899599RYR1c.6664-14C>T (n.6664-14C>T)
c.6661-14C>T (n.6661-14C>T)
c.116-14C>T
n.6747-14C>T
 ClinVar gnomAD v4
19g.38496396C>GCA2573156297RYR1c.6664-13C>G (n.6664-13C>G)
c.6661-13C>G (n.6661-13C>G)
c.116-13C>G
n.6747-13C>G
 ClinVar dbSNP gnomAD v4
19g.38496396C>TCA2584899600RYR1c.6664-13C>T (n.6664-13C>T)
c.6661-13C>T (n.6661-13C>T)
c.116-13C>T
n.6747-13C>T
 gnomAD v4
19g.38496397T>CCA2335051220RYR1c.6664-12T>C (n.6664-12T>C)
c.6661-12T>C (n.6661-12T>C)
c.116-12T>C
n.6747-12T>C
 dbSNP
19g.38496397T>GCA2576770968RYR1c.6664-12T>G (n.6664-12T>G)
c.6661-12T>G (n.6661-12T>G)
c.116-12T>G
n.6747-12T>G
19g.38496397T=CA2335051219RYR1c.6664-12T= (n.6664-12T=)
c.6661-12T= (n.6661-12T=)
c.116-12T=
n.6747-12T=
19g.38496398G>TCA507353613RYR1c.6664-11G>T (n.6664-11G>T)
c.6661-11G>T (n.6661-11G>T)
c.116-11G>T
n.6747-11G>T
19g.38496399C=CA2335051221RYR1c.6664-10C= (n.6664-10C=)
c.6661-10C= (n.6661-10C=)
c.116-10C=
n.6747-10C=
19g.38496399C>GCA633066114RYR1c.6664-10C>G (n.6664-10C>G)
c.6661-10C>G (n.6661-10C>G)
c.116-10C>G
n.6747-10C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38496400C>ACA2697556557RYR1c.6664-9C>A (n.6664-9C>A)
c.6661-9C>A (n.6661-9C>A)
c.116-9C>A
n.6747-9C>A
 ClinVar
19g.38496401T>ACA2695198197RYR1c.6664-8T>A (n.6664-8T>A)
c.6661-8T>A (n.6661-8T>A)
c.116-8T>A
n.6747-8T>A
 ClinVar
19g.38496401T>CCA633066115RYR1c.6664-8T>C (n.6664-8T>C)
c.6661-8T>C (n.6661-8T>C)
c.116-8T>C
n.6747-8T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38496401T=CA2335051222RYR1c.6664-8T= (n.6664-8T=)
c.6661-8T= (n.6661-8T=)
c.116-8T=
n.6747-8T=
19g.38496402G>ACA2584899601RYR1c.6664-7G>A (n.6664-7G>A)
c.6661-7G>A (n.6661-7G>A)
c.116-7G>A
n.6747-7G>A
 gnomAD v4
19g.38496402G=CA2335051223RYR1c.6664-7G= (n.6664-7G=)
c.6661-7G= (n.6661-7G=)
c.116-7G=
n.6747-7G=
19g.38496402G>TCA882059020RYR1c.6664-7G>T (n.6664-7G>T)
c.6661-7G>T (n.6661-7G>T)
c.116-7G>T
n.6747-7G>T
 dbSNP
19g.38496403T>CCA2814345953RYR1c.6664-6T>C (n.6664-6T>C)
c.6661-6T>C (n.6661-6T>C)
c.116-6T>C
n.6747-6T>C
19g.38496404C=CA2335051224RYR1c.6664-5C= (n.6664-5C=)
c.6661-5C= (n.6661-5C=)
c.116-5C=
n.6747-5C=
19g.38496404C>GCA308104279RYR1c.6664-5C>G (n.6664-5C>G)
c.6661-5C>G (n.6661-5C>G)
c.116-5C>G
n.6747-5C>G
 ClinVar dbSNP gnomAD v4
19g.38496405C>ACA882059024RYR1c.6664-4C>A (n.6664-4C>A)
c.6661-4C>A (n.6661-4C>A)
c.116-4C>A
n.6747-4C>A
 dbSNP gnomAD v3 gnomAD v4
19g.38496405C=CA2335051225RYR1c.6664-4C= (n.6664-4C=)
c.6661-4C= (n.6661-4C=)
c.116-4C=
n.6747-4C=
19g.38496405C>GCA2576770969RYR1c.6664-4C>G (n.6664-4C>G)
c.6661-4C>G (n.6661-4C>G)
c.116-4C>G
n.6747-4C>G
 gnomAD v4
19g.38496405C>TCA068557RYR1c.6664-4C>T (n.6664-4C>T)
c.6661-4C>T (n.6661-4C>T)
c.116-4C>T
n.6747-4C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496406C>ACA308104285RYR1c.6664-3C>A (n.6664-3C>A)
c.6661-3C>A (n.6661-3C>A)
c.116-3C>A
n.6747-3C>A
 dbSNP
19g.38496406C=CA2335051226RYR1c.6664-3C= (n.6664-3C=)
c.6661-3C= (n.6661-3C=)
c.116-3C=
n.6747-3C=
19g.38496406C>GCA308104290RYR1c.6664-3C>G (n.6664-3C>G)
c.6661-3C>G (n.6661-3C>G)
c.116-3C>G
n.6747-3C>G
 dbSNP
19g.38496407A=CA2335051227RYR1c.6664-2A= (n.6664-2A=)
c.6661-2A= (n.6661-2A=)
c.116-2A=
n.6747-2A=
19g.38496407A>CCA405666149RYR1c.6664-2A>C (n.6664-2A>C)
c.6661-2A>C (n.6661-2A>C)
c.116-2A>C
n.6747-2A>C
19g.38496407A>GCA405666150RYR1c.6664-2A>G (n.6664-2A>G)
c.6661-2A>G (n.6661-2A>G)
c.116-2A>G
n.6747-2A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38496407A>TCA405666151RYR1c.6664-2A>T (n.6664-2A>T)
c.6661-2A>T (n.6661-2A>T)
c.116-2A>T
n.6747-2A>T
19g.38496408G>ACA405666152RYR1c.6664-1G>A (n.6664-1G>A)
c.6661-1G>A (n.6661-1G>A)
c.116-1G>A
n.6747-1G>A
 gnomAD v4
19g.38496408G>CCA405666153RYR1c.6664-1G>C (n.6664-1G>C)
c.6661-1G>C (n.6661-1G>C)
c.116-1G>C
n.6747-1G>C
 COSMIC
19g.38496408G>TCA405666154RYR1c.6664-1G>T (n.6664-1G>T)
c.6661-1G>T (n.6661-1G>T)
c.116-1G>T
n.6747-1G>T
19g.38496409G>ACA068561RYR1c.6664G>A (p.Glu2222Lys)
c.6661G>A (p.Glu2221Lys)
c.116G>A
n.6747G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38496409G>CCA405666155RYR1c.6664G>C (p.Glu2222Gln)
c.6661G>C (p.Glu2221Gln)
c.116G>C
n.6747G>C
19g.38496409G=CA2335051228RYR1c.6664G= (p.Glu2222=)
c.6661G= (p.Glu2221=)
c.116G=
n.6747G=
19g.38496409G>TCA405666156RYR1c.6664G>T (p.Glu2222Ter)
c.6661G>T (p.Glu2221Ter)
c.116G>T
n.6747G>T
19g.38496410A>CCA405666159RYR1c.6665A>C (p.Glu2222Ala)
c.6662A>C (p.Glu2221Ala)
c.117A>C
n.6748A>C
19g.38496410A>GCA405666158RYR1c.6665A>G (p.Glu2222Gly)
c.6662A>G (p.Glu2221Gly)
c.117A>G
n.6748A>G
19g.38496410A>TCA405666157RYR1c.6665A>T (p.Glu2222Val)
c.6662A>T (p.Glu2221Val)
c.117A>T
n.6748A>T
19g.38496411G>ACA507353619RYR1c.6666G>A (p.Glu2222=)
c.6663G>A (p.Glu2221=)
c.118G>A
n.6749G>A
 ClinVar
19g.38496411G>CCA405666160RYR1c.6666G>C (p.Glu2222Asp)
c.6663G>C (p.Glu2221Asp)
c.118G>C
n.6749G>C
19g.38496411G>TCA405666161RYR1c.6666G>T (p.Glu2222Asp)
c.6663G>T (p.Glu2221Asp)
c.118G>T
n.6749G>T
 gnomAD v4
19g.38496412A>CCA405666162RYR1c.6667A>C (p.Ile2223Leu)
c.6664A>C (p.Ile2222Leu)
c.119A>C
n.6750A>C
19g.38496412A>GCA405666163RYR1c.6667A>G (p.Ile2223Val)
c.6664A>G (p.Ile2222Val)
c.119A>G
n.6750A>G
19g.38496412A>TCA405666164RYR1c.6667A>T (p.Ile2223Phe)
c.6664A>T (p.Ile2222Phe)
c.119A>T
n.6750A>T
19g.38496413T>ACA405666165RYR1c.6668T>A (p.Ile2223Asn)
c.6665T>A (p.Ile2222Asn)
c.120T>A
n.6751T>A
19g.38496413T>CCA405666166RYR1c.6668T>C (p.Ile2223Thr)
c.6665T>C (p.Ile2222Thr)
c.120T>C
n.6751T>C
19g.38496413T>GCA405666167RYR1c.6668T>G (p.Ile2223Ser)
c.6665T>G (p.Ile2222Ser)
c.120T>G
n.6751T>G
19g.38496414C>ACA507353620RYR1c.6669C>A (p.Ile2223=)
c.6666C>A (p.Ile2222=)
c.121C>A
n.6752C>A
19g.38496414C=CA2335051229RYR1c.6669C= (p.Ile2223=)
c.6666C= (p.Ile2222=)
c.121C=
n.6752C=
19g.38496414C>GCA405666168RYR1c.6669C>G (p.Ile2223Met)
c.6666C>G (p.Ile2222Met)
c.121C>G
n.6752C>G
19g.38496414C>TCA024640RYR1c.6669C>T (p.Ile2223=)
c.6666C>T (p.Ile2222=)
c.121C>T
n.6752C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38496415delCA2814345954RYR1c.6670del (p.Arg2224AlafsTer6)
c.6667del (p.Arg2223AlafsTer6)
c.122del
n.6753del
19g.38496415C>ACA405666169RYR1c.6670C>A (p.Arg2224Ser)
c.6667C>A (p.Arg2223Ser)
c.122C>A
n.6753C>A
19g.38496415C=CA2335051230RYR1c.6670C= (p.Arg2224=)
c.6667C= (p.Arg2223=)
c.122C=
n.6753C=
19g.38496415C>GCA405666170RYR1c.6670C>G (p.Arg2224Gly)
c.6667C>G (p.Arg2223Gly)
c.122C>G
n.6753C>G
19g.38496415C>TCA068565RYR1c.6670C>T (p.Arg2224Cys)
c.6667C>T (p.Arg2223Cys)
c.122C>T
n.6753C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496416G>ACA308104313RYR1c.6671G>A (p.Arg2224His)
c.6668G>A (p.Arg2223His)
c.123G>A
n.6754G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38496416G>CCA405666172RYR1c.6671G>C (p.Arg2224Pro)
c.6668G>C (p.Arg2223Pro)
c.123G>C
n.6754G>C
19g.38496416G=CA2335051231RYR1c.6671G= (p.Arg2224=)
c.6668G= (p.Arg2223=)
c.123G=
n.6754G=
19g.38496416G>TCA405666171RYR1c.6671G>T (p.Arg2224Leu)
c.6668G>T (p.Arg2223Leu)
c.123G>T
n.6754G>T
 gnomAD v4
19g.38496417C>ACA507353626RYR1c.6672C>A (p.Arg2224=)
c.6669C>A (p.Arg2223=)
c.124C>A
n.6755C>A
19g.38496417C>GCA507353625RYR1c.6672C>G (p.Arg2224=)
c.6669C>G (p.Arg2223=)
c.124C>G
n.6755C>G
19g.38496417C>TCA082167RYR1c.6672C>T (p.Arg2224=)
c.6669C>T (p.Arg2223=)
c.124C>T
n.6755C>T
19g.38496418T>ACA405666173RYR1c.6673T>A (p.Phe2225Ile)
c.6670T>A (p.Phe2224Ile)
c.125T>A
n.6756T>A
19g.38496418T>CCA405666174RYR1c.6673T>C (p.Phe2225Leu)
c.6670T>C (p.Phe2224Leu)
c.125T>C
n.6756T>C
19g.38496418T>GCA405666175RYR1c.6673T>G (p.Phe2225Val)
c.6670T>G (p.Phe2224Val)
c.125T>G
n.6756T>G
19g.38496419T>ACA405666176RYR1c.6674T>A (p.Phe2225Tyr)
c.6671T>A (p.Phe2224Tyr)
c.126T>A
n.6757T>A
19g.38496419T>CCA405666177RYR1c.6674T>C (p.Phe2225Ser)
c.6671T>C (p.Phe2224Ser)
c.126T>C
n.6757T>C
19g.38496419T>GCA405666178RYR1c.6674T>G (p.Phe2225Cys)
c.6671T>G (p.Phe2224Cys)
c.126T>G
n.6757T>G
19g.38496420C>ACA405666179RYR1c.6675C>A (p.Phe2225Leu)
c.6672C>A (p.Phe2224Leu)
c.127C>A
n.6758C>A
19g.38496420C>GCA405666180RYR1c.6675C>G (p.Phe2225Leu)
c.6672C>G (p.Phe2224Leu)
c.127C>G
n.6758C>G
 ClinVar
19g.38496420C>TCA082161RYR1c.6675C>T (p.Phe2225=)
c.6672C>T (p.Phe2224=)
c.127C>T
n.6758C>T
19g.38496421C>ACA405666181RYR1c.6676C>A (p.Pro2226Thr)
c.6673C>A (p.Pro2225Thr)
c.128C>A
n.6759C>A
19g.38496421C>GCA405666182RYR1c.6676C>G (p.Pro2226Ala)
c.6673C>G (p.Pro2225Ala)
c.128C>G
n.6759C>G
19g.38496421C>TCA405666183RYR1c.6676C>T (p.Pro2226Ser)
c.6673C>T (p.Pro2225Ser)
c.128C>T
n.6759C>T
 ClinVar
19g.38496422C>ACA405666184RYR1c.6677C>A (p.Pro2226His)
c.6674C>A (p.Pro2225His)
c.129C>A
n.6760C>A
19g.38496422C>GCA405666185RYR1c.6677C>G (p.Pro2226Arg)
c.6674C>G (p.Pro2225Arg)
c.129C>G
n.6760C>G
 gnomAD v4
19g.38496422C>TCA405666186RYR1c.6677C>T (p.Pro2226Leu)
c.6674C>T (p.Pro2225Leu)
c.129C>T
n.6760C>T
19g.38496423C>ACA507353632RYR1c.6678C>A (p.Pro2226=)
c.6675C>A (p.Pro2225=)
c.130C>A
n.6761C>A
19g.38496423C>GCA507353633RYR1c.6678C>G (p.Pro2226=)
c.6675C>G (p.Pro2225=)
c.130C>G
n.6761C>G
19g.38496423C>TCA507353634RYR1c.6678C>T (p.Pro2226=)
c.6675C>T (p.Pro2225=)
c.130C>T
n.6761C>T
19g.38496424A=CA2335051232RYR1c.6679A= (p.Lys2227=)
c.6676A= (p.Lys2226=)
c.131A=
n.6762A=
19g.38496424A>CCA405666188RYR1c.6679A>C (p.Lys2227Gln)
c.6676A>C (p.Lys2226Gln)
c.131A>C
n.6762A>C
19g.38496424A>GCA068569RYR1c.6679A>G (p.Lys2227Glu)
c.6676A>G (p.Lys2226Glu)
c.131A>G
n.6762A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38496424A>TCA405666187RYR1c.6679A>T (p.Lys2227Ter)
c.6676A>T (p.Lys2226Ter)
c.131A>T
n.6762A>T
19g.38496425A>CCA405666189RYR1c.6680A>C (p.Lys2227Thr)
c.6677A>C (p.Lys2226Thr)
c.132A>C
n.6763A>C
19g.38496425A>GCA405666190RYR1c.6680A>G (p.Lys2227Arg)
c.6677A>G (p.Lys2226Arg)
c.132A>G
n.6763A>G
19g.38496425A>TCA405666191RYR1c.6680A>T (p.Lys2227Met)
c.6677A>T (p.Lys2226Met)
c.132A>T
n.6763A>T
19g.38496425_38496429delCA2584899602RYR1c.6680_6684del (p.Lys2227SerfsTer24)
c.6677_6681del (p.Lys2226SerfsTer24)
c.132_136del
n.6763_6767del
 gnomAD v4
19g.38496426G>ACA507353636RYR1c.6681G>A (p.Lys2227=)
c.6678G>A (p.Lys2226=)
c.133G>A
n.6764G>A
 dbSNP
19g.38496426G>CCA405666192RYR1c.6681G>C (p.Lys2227Asn)
c.6678G>C (p.Lys2226Asn)
c.133G>C
n.6764G>C
19g.38496426G=CA2335051233RYR1c.6681G= (p.Lys2227=)
c.6678G= (p.Lys2226=)
c.133G=
n.6764G=
19g.38496426G>TCA405666193RYR1c.6681G>T (p.Lys2227Asn)
c.6678G>T (p.Lys2226Asn)
c.133G>T
n.6764G>T
 gnomAD v4
19g.38496427A>CCA405666194RYR1c.6682A>C (p.Met2228Leu)
c.6679A>C (p.Met2227Leu)
c.134A>C
n.6765A>C
19g.38496427A>GCA082169RYR1c.6682A>G (p.Met2228Val)
c.6679A>G (p.Met2227Val)
c.134A>G
n.6765A>G
19g.38496427A>TCA405666195RYR1c.6682A>T (p.Met2228Leu)
c.6679A>T (p.Met2227Leu)
c.134A>T
n.6765A>T
19g.38496428T>ACA405666196RYR1c.6683T>A (p.Met2228Lys)
c.6680T>A (p.Met2227Lys)
c.135T>A
n.6766T>A
 gnomAD v4
19g.38496428T>CCA405666197RYR1c.6683T>C (p.Met2228Thr)
c.6680T>C (p.Met2227Thr)
c.135T>C
n.6766T>C
 dbSNP gnomAD v2 gnomAD v4
19g.38496428T>GCA405666198RYR1c.6683T>G (p.Met2228Arg)
c.6680T>G (p.Met2227Arg)
c.135T>G
n.6766T>G
19g.38496428T=CA2335051234RYR1c.6683T= (p.Met2228=)
c.6680T= (p.Met2227=)
c.135T=
n.6766T=
19g.38496429G>ACA405666201RYR1c.6684G>A (p.Met2228Ile)
c.6681G>A (p.Met2227Ile)
c.136G>A
n.6767G>A
 gnomAD v4
19g.38496429G>CCA405666200RYR1c.6684G>C (p.Met2228Ile)
c.6681G>C (p.Met2227Ile)
c.136G>C
n.6767G>C
19g.38496429G>TCA405666199RYR1c.6684G>T (p.Met2228Ile)
c.6681G>T (p.Met2227Ile)
c.136G>T
n.6767G>T
19g.38496429_38496434dupCA2584899604RYR1c.6684_6689dup (p.Thr2230_Ser2231insValThr)
c.6681_6686dup (p.Thr2229_Ser2230insValThr)
c.136_141dup
n.6767_6772dup
 gnomAD v4
19g.38496430G>ACA405666202RYR1c.6685G>A (p.Val2229Met)
c.6682G>A (p.Val2228Met)
c.137G>A
n.6768G>A
 gnomAD v4
19g.38496430G>CCA405666203RYR1c.6685G>C (p.Val2229Leu)
c.6682G>C (p.Val2228Leu)
c.137G>C
n.6768G>C
19g.38496430G>TCA405666204RYR1c.6685G>T (p.Val2229Leu)
c.6682G>T (p.Val2228Leu)
c.137G>T
n.6768G>T
19g.38496431T>ACA405666205RYR1c.6686T>A (p.Val2229Glu)
c.6683T>A (p.Val2228Glu)
c.138T>A
n.6769T>A
19g.38496431T>CCA405666206RYR1c.6686T>C (p.Val2229Ala)
c.6683T>C (p.Val2228Ala)
c.138T>C
n.6769T>C
 dbSNP
19g.38496431T>GCA405666207RYR1c.6686T>G (p.Val2229Gly)
c.6683T>G (p.Val2228Gly)
c.138T>G
n.6769T>G
 gnomAD v4
19g.38496432G>ACA507353642RYR1c.6687G>A (p.Val2229=)
c.6684G>A (p.Val2228=)
c.139G>A
n.6770G>A
19g.38496432G>CCA507353641RYR1c.6687G>C (p.Val2229=)
c.6684G>C (p.Val2228=)
c.139G>C
n.6770G>C
 dbSNP
19g.38496432G=CA2335051235RYR1c.6687G= (p.Val2229=)
c.6684G= (p.Val2228=)
c.139G=
n.6770G=
19g.38496432G>TCA507353640RYR1c.6687G>T (p.Val2229=)
c.6684G>T (p.Val2228=)
c.139G>T
n.6770G>T
 gnomAD v4
19g.38496432dupCA082155RYR1c.6687dup (p.Thr2230AspfsTer23)
c.6684dup (p.Thr2229AspfsTer23)
c.139dup
n.6770dup
19g.38496433A=CA2335051236RYR1c.6688A= (p.Thr2230=)
c.6685A= (p.Thr2229=)
c.140A=
n.6771A=
19g.38496433A>CCA405666208RYR1c.6688A>C (p.Thr2230Pro)
c.6685A>C (p.Thr2229Pro)
c.140A>C
n.6771A>C
19g.38496433A>GCA405666209RYR1c.6688A>G (p.Thr2230Ala)
c.6685A>G (p.Thr2229Ala)
c.140A>G
n.6771A>G
19g.38496433A>TCA211969RYR1c.6688A>T (p.Thr2230Ser)
c.6685A>T (p.Thr2229Ser)
c.140A>T
n.6771A>T
 ClinVar dbSNP gnomAD v4
19g.38496434C>ACA405666210RYR1c.6689C>A (p.Thr2230Lys)
c.6686C>A (p.Thr2229Lys)
c.141C>A
n.6772C>A
19g.38496434C=CA2335051237RYR1c.6689C= (p.Thr2230=)
c.6686C= (p.Thr2229=)
c.141C=
n.6772C=
19g.38496434C>GCA405666211RYR1c.6689C>G (p.Thr2230Arg)
c.6686C>G (p.Thr2229Arg)
c.141C>G
n.6772C>G
19g.38496434C>TCA405666212RYR1c.6689C>T (p.Thr2230Ile)
c.6686C>T (p.Thr2229Ile)
c.141C>T
n.6772C>T
 dbSNP
19g.38496435A=CA2335051238RYR1c.6690A= (p.Thr2230=)
c.6687A= (p.Thr2229=)
c.142A=
n.6773A=
19g.38496435A>CCA507353644RYR1c.6690A>C (p.Thr2230=)
c.6687A>C (p.Thr2229=)
c.142A>C
n.6773A>C
 dbSNP
19g.38496435A>GCA507353645RYR1c.6690A>G (p.Thr2230=)
c.6687A>G (p.Thr2229=)
c.142A>G
n.6773A>G
 dbSNP
19g.38496435A>TCA507353646RYR1c.6690A>T (p.Thr2230=)
c.6687A>T (p.Thr2229=)
c.142A>T
n.6773A>T
19g.38496436A>CCA405666215RYR1c.6691A>C (p.Ser2231Arg)
c.6688A>C (p.Ser2230Arg)
c.143A>C
n.6774A>C
19g.38496436A>GCA405666214RYR1c.6691A>G (p.Ser2231Gly)
c.6688A>G (p.Ser2230Gly)
c.143A>G
n.6774A>G
19g.38496436A>TCA405666213RYR1c.6691A>T (p.Ser2231Cys)
c.6688A>T (p.Ser2230Cys)
c.143A>T
n.6774A>T
19g.38496437G>ACA405666216RYR1c.6692G>A (p.Ser2231Asn)
c.6689G>A (p.Ser2230Asn)
c.144G>A
n.6775G>A
 dbSNP gnomAD v4
19g.38496437G>CCA405666218RYR1c.6692G>C (p.Ser2231Thr)
c.6689G>C (p.Ser2230Thr)
c.144G>C
n.6775G>C
19g.38496437G=CA2335051239RYR1c.6692G= (p.Ser2231=)
c.6689G= (p.Ser2230=)
c.144G=
n.6775G=
19g.38496437G>TCA405666217RYR1c.6692G>T (p.Ser2231Ile)
c.6689G>T (p.Ser2230Ile)
c.144G>T
n.6775G>T
19g.38496438C>ACA405666219RYR1c.6693C>A (p.Ser2231Arg)
c.6690C>A (p.Ser2230Arg)
c.145C>A
n.6776C>A
19g.38496438C=CA2335051240RYR1c.6693C= (p.Ser2231=)
c.6690C= (p.Ser2230=)
c.145C=
n.6776C=
19g.38496438C>GCA405666220RYR1c.6693C>G (p.Ser2231Arg)
c.6690C>G (p.Ser2230Arg)
c.145C>G
n.6776C>G
19g.38496438C>TCA507353649RYR1c.6693C>T (p.Ser2231=)
c.6690C>T (p.Ser2230=)
c.145C>T
n.6776C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38496439T>ACA405666221RYR1c.6694T>A (p.Cys2232Ser)
c.6691T>A (p.Cys2231Ser)
c.146T>A
n.6777T>A
19g.38496439T>CCA405666222RYR1c.6694T>C (p.Cys2232Arg)
c.6691T>C (p.Cys2231Arg)
c.146T>C
n.6777T>C
19g.38496439T>GCA405666223RYR1c.6694T>G (p.Cys2232Gly)
c.6691T>G (p.Cys2231Gly)
c.146T>G
n.6777T>G
19g.38496440G>ACA405666224RYR1c.6695G>A (p.Cys2232Tyr)
c.6692G>A (p.Cys2231Tyr)
c.147G>A
n.6778G>A
 ClinVar
19g.38496440G>CCA405666225RYR1c.6695G>C (p.Cys2232Ser)
c.6692G>C (p.Cys2231Ser)
c.147G>C
n.6778G>C
19g.38496440G>TCA405666226RYR1c.6695G>T (p.Cys2232Phe)
c.6692G>T (p.Cys2231Phe)
c.147G>T
n.6778G>T
19g.38496441C>ACA405666227RYR1c.6696C>A (p.Cys2232Ter)
c.6693C>A (p.Cys2231Ter)
c.148C>A
n.6779C>A
19g.38496441C>GCA405666228RYR1c.6696C>G (p.Cys2232Trp)
c.6693C>G (p.Cys2231Trp)
c.148C>G
n.6779C>G
19g.38496441C>TCA507353651RYR1c.6696C>T (p.Cys2232=)
c.6693C>T (p.Cys2231=)
c.148C>T
n.6779C>T
19g.38496443_38496452delCA082159RYR1c.6698_6707del (p.Cys2233SerfsTer19)
c.6695_6704del (p.Cys2232SerfsTer19)
c.150_159del
n.6781_6790del
19g.38496442T>ACA405666229RYR1c.6697T>A (p.Cys2233Ser)
c.6694T>A (p.Cys2232Ser)
c.149T>A
n.6780T>A
19g.38496442T>CCA405666230RYR1c.6697T>C (p.Cys2233Arg)
c.6694T>C (p.Cys2232Arg)
c.149T>C
n.6780T>C
19g.38496442T>GCA405666231RYR1c.6697T>G (p.Cys2233Gly)
c.6694T>G (p.Cys2232Gly)
c.149T>G
n.6780T>G
19g.38496443G>ACA405666234RYR1c.6698G>A (p.Cys2233Tyr)
c.6695G>A (p.Cys2232Tyr)
c.150G>A
n.6781G>A
 gnomAD v4
19g.38496443G>CCA405666233RYR1c.6698G>C (p.Cys2233Ser)
c.6695G>C (p.Cys2232Ser)
c.150G>C
n.6781G>C
19g.38496443G>TCA405666232RYR1c.6698G>T (p.Cys2233Phe)
c.6695G>T (p.Cys2232Phe)
c.150G>T
n.6781G>T
19g.38496444C>ACA405666235RYR1c.6699C>A (p.Cys2233Ter)
c.6696C>A (p.Cys2232Ter)
c.151C>A
n.6782C>A
19g.38496444C=CA2335051241RYR1c.6699C= (p.Cys2233=)
c.6696C= (p.Cys2232=)
c.151C=
n.6782C=
19g.38496444C>GCA405666236RYR1c.6699C>G (p.Cys2233Trp)
c.6696C>G (p.Cys2232Trp)
c.151C>G
n.6782C>G
19g.38496444C>TCA308104330RYR1c.6699C>T (p.Cys2233=)
c.6696C>T (p.Cys2232=)
c.151C>T
n.6782C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38496445C>ACA405666237RYR1c.6700C>A (p.Arg2234Ser)
c.6697C>A (p.Arg2233Ser)
c.152C>A
n.6783C>A
 dbSNP
19g.38496445C=CA2335051242RYR1c.6700C= (p.Arg2234=)
c.6697C= (p.Arg2233=)
c.152C=
n.6783C=
19g.38496445C>GCA405666238RYR1c.6700C>G (p.Arg2234Gly)
c.6697C>G (p.Arg2233Gly)
c.152C>G
n.6783C>G
19g.38496445C>TCA068577RYR1c.6700C>T (p.Arg2234Cys)
c.6697C>T (p.Arg2233Cys)
c.152C>T
n.6783C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38496446G>ACA405666239RYR1c.6701G>A (p.Arg2234His)
c.6698G>A (p.Arg2233His)
c.153G>A
n.6784G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38496446G>CCA405666240RYR1c.6701G>C (p.Arg2234Pro)
c.6698G>C (p.Arg2233Pro)
c.153G>C
n.6784G>C
19g.38496446G=CA2335051243RYR1c.6701G= (p.Arg2234=)
c.6698G= (p.Arg2233=)
c.153G=
n.6784G=
19g.38496446G>TCA405666241RYR1c.6701G>T (p.Arg2234Leu)
c.6698G>T (p.Arg2233Leu)
c.153G>T
n.6784G>T
19g.38496447C>ACA507353652RYR1c.6702C>A (p.Arg2234=)
c.6699C>A (p.Arg2233=)
c.154C>A
n.6785C>A
19g.38496447C>GCA507353653RYR1c.6702C>G (p.Arg2234=)
c.6699C>G (p.Arg2233=)
c.154C>G
n.6785C>G
19g.38496447C>TCA507353654RYR1c.6702C>T (p.Arg2234=)
c.6699C>T (p.Arg2233=)
c.154C>T
n.6785C>T
19g.38496448T>ACA405666242RYR1c.6703T>A (p.Phe2235Ile)
c.6700T>A (p.Phe2234Ile)
c.155T>A
n.6786T>A
19g.38496448T>CCA405666243RYR1c.6703T>C (p.Phe2235Leu)
c.6700T>C (p.Phe2234Leu)
c.155T>C
n.6786T>C
 gnomAD v4
19g.38496448T>GCA405666244RYR1c.6703T>G (p.Phe2235Val)
c.6700T>G (p.Phe2234Val)
c.155T>G
n.6786T>G
19g.38496449T>ACA405666247RYR1c.6704T>A (p.Phe2235Tyr)
c.6701T>A (p.Phe2234Tyr)
c.156T>A
n.6787T>A
19g.38496449T>CCA405666246RYR1c.6704T>C (p.Phe2235Ser)
c.6701T>C (p.Phe2234Ser)
c.156T>C
n.6787T>C
19g.38496449T>GCA405666245RYR1c.6704T>G (p.Phe2235Cys)
c.6701T>G (p.Phe2234Cys)
c.156T>G
n.6787T>G
19g.38496450C>ACA405666248RYR1c.6705C>A (p.Phe2235Leu)
c.6702C>A (p.Phe2234Leu)
c.157C>A
n.6788C>A
19g.38496450C=CA2335051244RYR1c.6705C= (p.Phe2235=)
c.6702C= (p.Phe2234=)
c.157C=
n.6788C=
19g.38496450C>GCA405666249RYR1c.6705C>G (p.Phe2235Leu)
c.6702C>G (p.Phe2234Leu)
c.157C>G
n.6788C>G
19g.38496450C>TCA507353655RYR1c.6705C>T (p.Phe2235=)
c.6702C>T (p.Phe2234=)
c.157C>T
n.6788C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38496451C>ACA405666250RYR1c.6706C>A (p.Leu2236Ile)
c.6703C>A (p.Leu2235Ile)
c.158C>A
n.6789C>A
19g.38496451C>GCA405666251RYR1c.6706C>G (p.Leu2236Val)
c.6703C>G (p.Leu2235Val)
c.158C>G
n.6789C>G
19g.38496451C>TCA405666252RYR1c.6706C>T (p.Leu2236Phe)
c.6703C>T (p.Leu2235Phe)
c.158C>T
n.6789C>T
19g.38496452T>ACA405666253RYR1c.6707T>A (p.Leu2236His)
c.6704T>A (p.Leu2235His)
c.159T>A
n.6790T>A
19g.38496452T>CCA405666254RYR1c.6707T>C (p.Leu2236Pro)
c.6704T>C (p.Leu2235Pro)
c.159T>C
n.6790T>C
19g.38496452T>GCA405666255RYR1c.6707T>G (p.Leu2236Arg)
c.6704T>G (p.Leu2235Arg)
c.159T>G
n.6790T>G
 ClinVar dbSNP
19g.38496452T=CA2335051246RYR1c.6707T= (p.Leu2236=)
c.6704T= (p.Leu2235=)
c.159T=
n.6790T=
19g.38496452_38496455delinsTCTGCA2335051245RYR1c.6707_6710delinsTCTG (p.Leu2236=)
c.6704_6707delinsTCTG (p.Leu2235=)
c.159_162delinsTCTG
n.6790_6793delinsTCTG

Number of alleles fetched