Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38499038_38499042dupCA308107147RYR1c.6892-70_6892-66dup (n.6892-70_6892-66dup)
c.6889-70_6889-66dup (n.6889-70_6889-66dup)
c.344-70_344-66dup
n.6975-70_6975-66dup
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499033_38499042dupCA308107155RYR1c.6892-75_6892-66dup (n.6892-75_6892-66dup)
c.6889-75_6889-66dup (n.6889-75_6889-66dup)
c.344-75_344-66dup
n.6975-75_6975-66dup
 dbSNP gnomAD v3 gnomAD v4
19g.38499038_38499042delCA308107151RYR1c.6892-70_6892-66del (n.6892-70_6892-66del)
c.6889-70_6889-66del (n.6889-70_6889-66del)
c.344-70_344-66del
n.6975-70_6975-66del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499033_38499042delCA920105694RYR1c.6892-75_6892-66del (n.6892-75_6892-66del)
c.6889-75_6889-66del (n.6889-75_6889-66del)
c.344-75_344-66del
n.6975-75_6975-66del
 dbSNP gnomAD v4
19g.38499028_38499042delCA2584899787RYR1c.6892-80_6892-66del (n.6892-80_6892-66del)
c.6889-80_6889-66del (n.6889-80_6889-66del)
c.344-80_344-66del
n.6975-80_6975-66del
 gnomAD v4
19g.38499041_38499047delCA2576771041RYR1c.6892-67_6892-61del (n.6892-67_6892-61del)
c.6889-67_6889-61del (n.6889-67_6889-61del)
c.344-67_344-61del
n.6975-67_6975-61del
 gnomAD v4
19g.38499040_38499044dupCA2584899808RYR1c.6892-68_6892-64dup (n.6892-68_6892-64dup)
c.6889-68_6889-64dup (n.6889-68_6889-64dup)
c.344-68_344-64dup
n.6975-68_6975-64dup
 gnomAD v4
19g.38499040_38499042delinsCAGCA2335052556RYR1c.6892-68_6892-66delinsCAG (n.6892-68_6892-66delinsCAG)
c.6889-68_6889-66delinsCAG (n.6889-68_6889-66delinsCAG)
c.344-68_344-66delinsCAG
n.6975-68_6975-66delinsCAG
19g.38499041A>GCA2576771043RYR1c.6892-67A>G (n.6892-67A>G)
c.6889-67A>G (n.6889-67A>G)
c.344-67A>G
n.6975-67A>G
19g.38499041A>TCA2584899811RYR1c.6892-67A>T (n.6892-67A>T)
c.6889-67A>T (n.6889-67A>T)
c.344-67A>T
n.6975-67A>T
 gnomAD v4
19g.38499043_38499044delCA882060459RYR1c.6892-65_6892-64del (n.6892-65_6892-64del)
c.6889-65_6889-64del (n.6889-65_6889-64del)
c.344-65_344-64del
n.6975-65_6975-64del
 dbSNP gnomAD v4
19g.38499042G>ACA995715294RYR1c.6892-66G>A (n.6892-66G>A)
c.6889-66G>A (n.6889-66G>A)
c.344-66G>A
n.6975-66G>A
 dbSNP gnomAD v3 gnomAD v4
19g.38499042G=CA2335052557RYR1c.6892-66G= (n.6892-66G=)
c.6889-66G= (n.6889-66G=)
c.344-66G=
n.6975-66G=
19g.38499044G>ACA2584899812RYR1c.6892-64G>A (n.6892-64G>A)
c.6889-64G>A (n.6889-64G>A)
c.344-64G>A
n.6975-64G>A
 gnomAD v4
19g.38499044G>TCA2584899813RYR1c.6892-64G>T (n.6892-64G>T)
c.6889-64G>T (n.6889-64G>T)
c.344-64G>T
n.6975-64G>T
 gnomAD v4
19g.38499045G>TCA2584899814RYR1c.6892-63G>T (n.6892-63G>T)
c.6889-63G>T (n.6889-63G>T)
c.344-63G>T
n.6975-63G>T
 gnomAD v4
19g.38499046G>ACA2584899815RYR1c.6892-62G>A (n.6892-62G>A)
c.6889-62G>A (n.6889-62G>A)
c.344-62G>A
n.6975-62G>A
 gnomAD v4
19g.38499047C>ACA2335052559RYR1c.6892-61C>A (n.6892-61C>A)
c.6889-61C>A (n.6889-61C>A)
c.344-61C>A
n.6975-61C>A
 dbSNP gnomAD v4
19g.38499047C=CA2335052558RYR1c.6892-61C= (n.6892-61C=)
c.6889-61C= (n.6889-61C=)
c.344-61C=
n.6975-61C=
19g.38499048T>CCA2584899816RYR1c.6892-60T>C (n.6892-60T>C)
c.6889-60T>C (n.6889-60T>C)
c.344-60T>C
n.6975-60T>C
 gnomAD v4
19g.38499050A>GCA2584899817RYR1c.6892-58A>G (n.6892-58A>G)
c.6889-58A>G (n.6889-58A>G)
c.344-58A>G
n.6975-58A>G
 gnomAD v4
19g.38499051G>TCA2584899818RYR1c.6892-57G>T (n.6892-57G>T)
c.6889-57G>T (n.6889-57G>T)
c.344-57G>T
n.6975-57G>T
 gnomAD v4
19g.38499052C>ACA2584899819RYR1c.6892-56C>A (n.6892-56C>A)
c.6889-56C>A (n.6889-56C>A)
c.344-56C>A
n.6975-56C>A
 gnomAD v4
19g.38499055delCA2576771044RYR1c.6892-53del (n.6892-53del)
c.6889-53del (n.6889-53del)
c.344-53del
n.6975-53del
 gnomAD v4
19g.38499053C>ACA2584899820RYR1c.6892-55C>A (n.6892-55C>A)
c.6889-55C>A (n.6889-55C>A)
c.344-55C>A
n.6975-55C>A
 dbSNP gnomAD v4
19g.38499055C>TCA2576771045RYR1c.6892-53C>T (n.6892-53C>T)
c.6889-53C>T (n.6889-53C>T)
c.344-53C>T
n.6975-53C>T
 gnomAD v4
19g.38499056A>GCA2584899821RYR1c.6892-52A>G (n.6892-52A>G)
c.6889-52A>G (n.6889-52A>G)
c.344-52A>G
n.6975-52A>G
 gnomAD v4
19g.38499057G>ACA632874459RYR1c.6892-51G>A (n.6892-51G>A)
c.6889-51G>A (n.6889-51G>A)
c.344-51G>A
n.6975-51G>A
 dbSNP gnomAD v2
19g.38499057G>CCA2584899822RYR1c.6892-51G>C (n.6892-51G>C)
c.6889-51G>C (n.6889-51G>C)
c.344-51G>C
n.6975-51G>C
 gnomAD v4
19g.38499057G=CA2335052560RYR1c.6892-51G= (n.6892-51G=)
c.6889-51G= (n.6889-51G=)
c.344-51G=
n.6975-51G=
19g.38499058G>ACA2335052562RYR1c.6892-50G>A (n.6892-50G>A)
c.6889-50G>A (n.6889-50G>A)
c.344-50G>A
n.6975-50G>A
 dbSNP gnomAD v3 gnomAD v4
19g.38499058G>CCA2584899823RYR1c.6892-50G>C (n.6892-50G>C)
c.6889-50G>C (n.6889-50G>C)
c.344-50G>C
n.6975-50G>C
 gnomAD v4
19g.38499058G=CA2335052561RYR1c.6892-50G= (n.6892-50G=)
c.6889-50G= (n.6889-50G=)
c.344-50G=
n.6975-50G=
19g.38499061delCA2584899824RYR1c.6892-47del (n.6892-47del)
c.6889-47del (n.6889-47del)
c.344-47del
n.6975-47del
 gnomAD v4
19g.38499061G>ACA2584899825RYR1c.6892-47G>A (n.6892-47G>A)
c.6889-47G>A (n.6889-47G>A)
c.344-47G>A
n.6975-47G>A
 gnomAD v4
19g.38499067G>ACA068905RYR1c.6892-41G>A (n.6892-41G>A)
c.6889-41G>A (n.6889-41G>A)
c.344-41G>A
n.6975-41G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499067G=CA2335052563RYR1c.6892-41G= (n.6892-41G=)
c.6889-41G= (n.6889-41G=)
c.344-41G=
n.6975-41G=
19g.38499068G>ACA632874461RYR1c.6892-40G>A (n.6892-40G>A)
c.6889-40G>A (n.6889-40G>A)
c.344-40G>A
n.6975-40G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499068G>CCA2584899826RYR1c.6892-40G>C (n.6892-40G>C)
c.6889-40G>C (n.6889-40G>C)
c.344-40G>C
n.6975-40G>C
 gnomAD v4
19g.38499068G=CA2335052564RYR1c.6892-40G= (n.6892-40G=)
c.6889-40G= (n.6889-40G=)
c.344-40G=
n.6975-40G=
19g.38499069C=CA2335052565RYR1c.6892-39C= (n.6892-39C=)
c.6889-39C= (n.6889-39C=)
c.344-39C=
n.6975-39C=
19g.38499069C>TCA995715301RYR1c.6892-39C>T (n.6892-39C>T)
c.6889-39C>T (n.6889-39C>T)
c.344-39C>T
n.6975-39C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38499071T>CCA632874462RYR1c.6892-37T>C (n.6892-37T>C)
c.6889-37T>C (n.6889-37T>C)
c.344-37T>C
n.6975-37T>C
 dbSNP gnomAD v2 gnomAD v4
19g.38499071T=CA2335052566RYR1c.6892-37T= (n.6892-37T=)
c.6889-37T= (n.6889-37T=)
c.344-37T=
n.6975-37T=
19g.38499073G>ACA882060463RYR1c.6892-35G>A (n.6892-35G>A)
c.6889-35G>A (n.6889-35G>A)
c.344-35G>A
n.6975-35G>A
 dbSNP gnomAD v3 gnomAD v4
19g.38499073G=CA2335052567RYR1c.6892-35G= (n.6892-35G=)
c.6889-35G= (n.6889-35G=)
c.344-35G=
n.6975-35G=
19g.38499074G>ACA995715302RYR1c.6892-34G>A (n.6892-34G>A)
c.6889-34G>A (n.6889-34G>A)
c.344-34G>A
n.6975-34G>A
 dbSNP gnomAD v4
19g.38499074G=CA2335052568RYR1c.6892-34G= (n.6892-34G=)
c.6889-34G= (n.6889-34G=)
c.344-34G=
n.6975-34G=
19g.38499075T>CCA2584899827RYR1c.6892-33T>C (n.6892-33T>C)
c.6889-33T>C (n.6889-33T>C)
c.344-33T>C
n.6975-33T>C
 gnomAD v4
19g.38499076C=CA2335052569RYR1c.6892-32C= (n.6892-32C=)
c.6889-32C= (n.6889-32C=)
c.344-32C=
n.6975-32C=
19g.38499076C>TCA068901RYR1c.6892-32C>T (n.6892-32C>T)
c.6889-32C>T (n.6889-32C>T)
c.344-32C>T
n.6975-32C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499080T>GCA068898RYR1c.6892-28T>G (n.6892-28T>G)
c.6889-28T>G (n.6889-28T>G)
c.344-28T>G
n.6975-28T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499080T=CA2335052570RYR1c.6892-28T= (n.6892-28T=)
c.6889-28T= (n.6889-28T=)
c.344-28T=
n.6975-28T=
19g.38499081C=CA2335052571RYR1c.6892-27C= (n.6892-27C=)
c.6889-27C= (n.6889-27C=)
c.344-27C=
n.6975-27C=
19g.38499081C>GCA2335052572RYR1c.6892-27C>G (n.6892-27C>G)
c.6889-27C>G (n.6889-27C>G)
c.344-27C>G
n.6975-27C>G
 dbSNP
19g.38499082_38499086delinsTCTGACA2335052573RYR1c.6892-26_6892-22delinsTCTGA (n.6892-26_6892-22delinsTCTGA)
c.6889-26_6889-22delinsTCTGA (n.6889-26_6889-22delinsTCTGA)
c.344-26_344-22delinsTCTGA
n.6975-26_6975-22delinsTCTGA
19g.38499087_38499090delCA082261RYR1c.6892-21_6892-18del (n.6892-21_6892-18del)
c.6889-21_6889-18del (n.6889-21_6889-18del)
c.344-21_344-18del
n.6975-21_6975-18del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499085G>ACA068893RYR1c.6892-23G>A (n.6892-23G>A)
c.6889-23G>A (n.6889-23G>A)
c.344-23G>A
n.6975-23G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499085G=CA2335052574RYR1c.6892-23G= (n.6892-23G=)
c.6889-23G= (n.6889-23G=)
c.344-23G=
n.6975-23G=
19g.38499085G>TCA2584899828RYR1c.6892-23G>T (n.6892-23G>T)
c.6889-23G>T (n.6889-23G>T)
c.344-23G>T
n.6975-23G>T
 gnomAD v4
19g.38499087C=CA2335052575RYR1c.6892-21C= (n.6892-21C=)
c.6889-21C= (n.6889-21C=)
c.344-21C=
n.6975-21C=
19g.38499087C>GCA632874466RYR1c.6892-21C>G (n.6892-21C>G)
c.6889-21C>G (n.6889-21C>G)
c.344-21C>G
n.6975-21C>G
 dbSNP gnomAD v2 gnomAD v4
19g.38499087C>TCA308107181RYR1c.6892-21C>T (n.6892-21C>T)
c.6889-21C>T (n.6889-21C>T)
c.344-21C>T
n.6975-21C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499088_38499089delCA2573156304RYR1c.6892-20_6892-19del (n.6892-20_6892-19del)
c.6889-20_6889-19del (n.6889-20_6889-19del)
c.344-20_344-19del
n.6975-20_6975-19del
 ClinVar dbSNP
19g.38499089G>ACA068891RYR1c.6892-19G>A (n.6892-19G>A)
c.6889-19G>A (n.6889-19G>A)
c.344-19G>A
n.6975-19G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499089G=CA2335052576RYR1c.6892-19G= (n.6892-19G=)
c.6889-19G= (n.6889-19G=)
c.344-19G=
n.6975-19G=
19g.38499090A>GCA2736029506RYR1c.6892-18A>G (n.6892-18A>G)
c.6889-18A>G (n.6889-18A>G)
c.344-18A>G
n.6975-18A>G
 dbSNP
19g.38499091G>ACA2584899829RYR1c.6892-17G>A (n.6892-17G>A)
c.6889-17G>A (n.6889-17G>A)
c.344-17G>A
n.6975-17G>A
 gnomAD v4
19g.38499092C=CA2335052577RYR1c.6892-16C= (n.6892-16C=)
c.6889-16C= (n.6889-16C=)
c.344-16C=
n.6975-16C=
19g.38499092C>TCA632874469RYR1c.6892-16C>T (n.6892-16C>T)
c.6889-16C>T (n.6889-16C>T)
c.344-16C>T
n.6975-16C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38499093C>TCA2576771046RYR1c.6892-15C>T (n.6892-15C>T)
c.6889-15C>T (n.6889-15C>T)
c.344-15C>T
n.6975-15C>T
 gnomAD v4
19g.38499094C=CA2335052578RYR1c.6892-14C= (n.6892-14C=)
c.6889-14C= (n.6889-14C=)
c.344-14C=
n.6975-14C=
19g.38499094C>TCA10587317RYR1c.6892-14C>T (n.6892-14C>T)
c.6889-14C>T (n.6889-14C>T)
c.344-14C>T
n.6975-14C>T
 ClinVar dbSNP gnomAD v4
19g.38499095C=CA2335052579RYR1c.6892-13C= (n.6892-13C=)
c.6889-13C= (n.6889-13C=)
c.344-13C=
n.6975-13C=
19g.38499095C>TCA632874470RYR1c.6892-13C>T (n.6892-13C>T)
c.6889-13C>T (n.6889-13C>T)
c.344-13C>T
n.6975-13C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38499095_38499096delinsCTCA2335052580RYR1c.6892-13_6892-12delinsCT (n.6892-13_6892-12delinsCT)
c.6889-13_6889-12delinsCT (n.6889-13_6889-12delinsCT)
c.344-13_344-12delinsCT
n.6975-13_6975-12delinsCT
19g.38499097delCA632874471RYR1c.6892-11del (n.6892-11del)
c.6889-11del (n.6889-11del)
c.344-11del
n.6975-11del
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38499097T>CCA068887RYR1c.6892-11T>C (n.6892-11T>C)
c.6889-11T>C (n.6889-11T>C)
c.344-11T>C
n.6975-11T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499097T=CA2335052581RYR1c.6892-11T= (n.6892-11T=)
c.6889-11T= (n.6889-11T=)
c.344-11T=
n.6975-11T=
19g.38499098_38499099delCA2582145360RYR1c.6892-10_6892-9del (n.6892-10_6892-9del)
c.6889-10_6889-9del (n.6889-10_6889-9del)
c.344-10_344-9del
n.6975-10_6975-9del
 dbSNP gnomAD v3 gnomAD v4
19g.38499098C>ACA308107205RYR1c.6892-10C>A (n.6892-10C>A)
c.6889-10C>A (n.6889-10C>A)
c.344-10C>A
n.6975-10C>A
 ClinVar dbSNP
19g.38499098C=CA2335052582RYR1c.6892-10C= (n.6892-10C=)
c.6889-10C= (n.6889-10C=)
c.344-10C=
n.6975-10C=
19g.38499098C>GCA2335052583RYR1c.6892-10C>G (n.6892-10C>G)
c.6889-10C>G (n.6889-10C>G)
c.344-10C>G
n.6975-10C>G
 dbSNP
19g.38499099T>CCA2335052585RYR1c.6892-9T>C (n.6892-9T>C)
c.6889-9T>C (n.6889-9T>C)
c.344-9T>C
n.6975-9T>C
 dbSNP
19g.38499099T=CA2335052584RYR1c.6892-9T= (n.6892-9T=)
c.6889-9T= (n.6889-9T=)
c.344-9T=
n.6975-9T=
19g.38499100G>ACA2335052587RYR1c.6892-8G>A (n.6892-8G>A)
c.6889-8G>A (n.6889-8G>A)
c.344-8G>A
n.6975-8G>A
 dbSNP gnomAD v4
19g.38499100G=CA2335052586RYR1c.6892-8G= (n.6892-8G=)
c.6889-8G= (n.6889-8G=)
c.344-8G=
n.6975-8G=
19g.38499101C>TCA2739276772RYR1c.6892-7C>T (n.6892-7C>T)
c.6889-7C>T (n.6889-7C>T)
c.344-7C>T
n.6975-7C>T
 ClinVar
19g.38499105delCA2576771047RYR1c.6892-3del (n.6892-3del)
c.6889-3del (n.6889-3del)
c.344-3del
n.6975-3del
19g.38499102C>ACA2584899830RYR1c.6892-6C>A (n.6892-6C>A)
c.6889-6C>A (n.6889-6C>A)
c.344-6C>A
n.6975-6C>A
 gnomAD v4
19g.38499102C=CA2335052588RYR1c.6892-6C= (n.6892-6C=)
c.6889-6C= (n.6889-6C=)
c.344-6C=
n.6975-6C=
19g.38499102C>GCA068907RYR1c.6892-6C>G (n.6892-6C>G)
c.6889-6C>G (n.6889-6C>G)
c.344-6C>G
n.6975-6C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499103C>TCA2697556567RYR1c.6892-5C>T (n.6892-5C>T)
c.6889-5C>T (n.6889-5C>T)
c.344-5C>T
n.6975-5C>T
 ClinVar
19g.38499104C>ACA2697556568RYR1c.6892-4C>A (n.6892-4C>A)
c.6889-4C>A (n.6889-4C>A)
c.344-4C>A
n.6975-4C>A
 ClinVar
19g.38499104C>TCA2584899831RYR1c.6892-4C>T (n.6892-4C>T)
c.6889-4C>T (n.6889-4C>T)
c.344-4C>T
n.6975-4C>T
 gnomAD v4
19g.38499105C>GCA082265RYR1c.6892-3C>G (n.6892-3C>G)
c.6889-3C>G (n.6889-3C>G)
c.344-3C>G
n.6975-3C>G
19g.38499105C>TCA2576771048RYR1c.6892-3C>T (n.6892-3C>T)
c.6889-3C>T (n.6889-3C>T)
c.344-3C>T
n.6975-3C>T
 gnomAD v4
19g.38499106delCA2584899832RYR1c.6892-2del (n.6892-2del)
c.6889-2del (n.6889-2del)
c.344-2del
n.6975-2del
 gnomAD v4
19g.38499106A=CA2335052589RYR1c.6892-2A= (n.6892-2A=)
c.6889-2A= (n.6889-2A=)
c.344-2A=
n.6975-2A=
19g.38499106A>CCA405667046RYR1c.6892-2A>C (n.6892-2A>C)
c.6889-2A>C (n.6889-2A>C)
c.344-2A>C
n.6975-2A>C
19g.38499106A>GCA405667048RYR1c.6892-2A>G (n.6892-2A>G)
c.6889-2A>G (n.6889-2A>G)
c.344-2A>G
n.6975-2A>G
 dbSNP
19g.38499106A>TCA405667050RYR1c.6892-2A>T (n.6892-2A>T)
c.6889-2A>T (n.6889-2A>T)
c.344-2A>T
n.6975-2A>T
19g.38499107G>ACA405667059RYR1c.6892-1G>A (n.6892-1G>A)
c.6889-1G>A (n.6889-1G>A)
c.344-1G>A
n.6975-1G>A
19g.38499107G>CCA405667052RYR1c.6892-1G>C (n.6892-1G>C)
c.6889-1G>C (n.6889-1G>C)
c.344-1G>C
n.6975-1G>C
19g.38499107G>TCA405667057RYR1c.6892-1G>T (n.6892-1G>T)
c.6889-1G>T (n.6889-1G>T)
c.344-1G>T
n.6975-1G>T
19g.38499108G>ACA068911RYR1c.6892G>A (p.Val2298Ile)
c.6889G>A (p.Val2297Ile)
c.344G>A
n.6975G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499108G>CCA405667062RYR1c.6892G>C (p.Val2298Leu)
c.6889G>C (p.Val2297Leu)
c.344G>C
n.6975G>C
19g.38499108G=CA2335052590RYR1c.6892G= (p.Val2298=)
c.6889G= (p.Val2297=)
c.344G=
n.6975G=
19g.38499108G>TCA405667064RYR1c.6892G>T (p.Val2298Phe)
c.6889G>T (p.Val2297Phe)
c.344G>T
n.6975G>T
19g.38499109T>ACA405667065RYR1c.6893T>A (p.Val2298Asp)
c.6890T>A (p.Val2297Asp)
c.345T>A
n.6976T>A
19g.38499109T>CCA405667067RYR1c.6893T>C (p.Val2298Ala)
c.6890T>C (p.Val2297Ala)
c.345T>C
n.6976T>C
19g.38499109T>GCA405667069RYR1c.6893T>G (p.Val2298Gly)
c.6890T>G (p.Val2297Gly)
c.345T>G
n.6976T>G
 gnomAD v4
19g.38499110T>ACA507243061RYR1c.6894T>A (p.Val2298=)
c.6891T>A (p.Val2297=)
c.346T>A
n.6977T>A
19g.38499110T>CCA507243062RYR1c.6894T>C (p.Val2298=)
c.6891T>C (p.Val2297=)
c.346T>C
n.6977T>C
19g.38499110T>GCA507243064RYR1c.6894T>G (p.Val2298=)
c.6891T>G (p.Val2297=)
c.346T>G
n.6977T>G
19g.38499111G>ACA082266RYR1c.6895G>A (p.Val2299Met)
c.6892G>A (p.Val2298Met)
c.347G>A
n.6978G>A
 dbSNP
19g.38499111G>CCA405667070RYR1c.6895G>C (p.Val2299Leu)
c.6892G>C (p.Val2298Leu)
c.347G>C
n.6978G>C
19g.38499111G=CA2335052591RYR1c.6895G= (p.Val2299=)
c.6892G= (p.Val2298=)
c.347G=
n.6978G=
19g.38499111G>TCA405667072RYR1c.6895G>T (p.Val2299Leu)
c.6892G>T (p.Val2298Leu)
c.347G>T
n.6978G>T
19g.38499112T>ACA405667074RYR1c.6896T>A (p.Val2299Glu)
c.6893T>A (p.Val2298Glu)
c.348T>A
n.6979T>A
19g.38499112T>CCA405667076RYR1c.6896T>C (p.Val2299Ala)
c.6893T>C (p.Val2298Ala)
c.348T>C
n.6979T>C
19g.38499112T>GCA405667078RYR1c.6896T>G (p.Val2299Gly)
c.6893T>G (p.Val2298Gly)
c.348T>G
n.6979T>G
19g.38499113G>ACA068915RYR1c.6897G>A (p.Val2299=)
c.6894G>A (p.Val2298=)
c.349G>A
n.6980G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499113G>CCA068918RYR1c.6897G>C (p.Val2299=)
c.6894G>C (p.Val2298=)
c.349G>C
n.6980G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499113G=CA2335052592RYR1c.6897G= (p.Val2299=)
c.6894G= (p.Val2298=)
c.349G=
n.6980G=
19g.38499113G>TCA082248RYR1c.6897G>T (p.Val2299=)
c.6894G>T (p.Val2298=)
c.349G>T
n.6980G>T
19g.38499114T>ACA405667081RYR1c.6898T>A (p.Ser2300Thr)
c.6895T>A (p.Ser2299Thr)
c.350T>A
n.6981T>A
19g.38499114T>CCA405667082RYR1c.6898T>C (p.Ser2300Pro)
c.6895T>C (p.Ser2299Pro)
c.350T>C
n.6981T>C
19g.38499114T>GCA405667083RYR1c.6898T>G (p.Ser2300Ala)
c.6895T>G (p.Ser2299Ala)
c.350T>G
n.6981T>G
19g.38499115C>ACA405667085RYR1c.6899C>A (p.Ser2300Tyr)
c.6896C>A (p.Ser2299Tyr)
c.351C>A
n.6982C>A
19g.38499115C>GCA405667087RYR1c.6899C>G (p.Ser2300Cys)
c.6896C>G (p.Ser2299Cys)
c.351C>G
n.6982C>G
19g.38499115C>TCA405667089RYR1c.6899C>T (p.Ser2300Phe)
c.6896C>T (p.Ser2299Phe)
c.351C>T
n.6982C>T
19g.38499116C>ACA507243074RYR1c.6900C>A (p.Ser2300=)
c.6897C>A (p.Ser2299=)
c.352C>A
n.6983C>A
19g.38499116C>GCA507243075RYR1c.6900C>G (p.Ser2300=)
c.6897C>G (p.Ser2299=)
c.352C>G
n.6983C>G
19g.38499116C>TCA507243077RYR1c.6900C>T (p.Ser2300=)
c.6897C>T (p.Ser2299=)
c.352C>T
n.6983C>T
19g.38499117T>ACA405667093RYR1c.6901T>A (p.Tyr2301Asn)
c.6898T>A (p.Tyr2300Asn)
c.353T>A
n.6984T>A
19g.38499117T>CCA405667096RYR1c.6901T>C (p.Tyr2301His)
c.6898T>C (p.Tyr2300His)
c.353T>C
n.6984T>C
19g.38499117T>GCA405667098RYR1c.6901T>G (p.Tyr2301Asp)
c.6898T>G (p.Tyr2300Asp)
c.353T>G
n.6984T>G
19g.38499118A=CA2335052593RYR1c.6902A= (p.Tyr2301=)
c.6899A= (p.Tyr2300=)
c.354A=
n.6985A=
19g.38499118A>CCA405667099RYR1c.6902A>C (p.Tyr2301Ser)
c.6899A>C (p.Tyr2300Ser)
c.354A>C
n.6985A>C
19g.38499118A>GCA405667101RYR1c.6902A>G (p.Tyr2301Cys)
c.6899A>G (p.Tyr2300Cys)
c.354A>G
n.6985A>G
 gnomAD v4
19g.38499118A>TCA405667103RYR1c.6902A>T (p.Tyr2301Phe)
c.6899A>T (p.Tyr2300Phe)
c.354A>T
n.6985A>T
 dbSNP gnomAD v3 gnomAD v4
19g.38499119C>ACA405667106RYR1c.6903C>A (p.Tyr2301Ter)
c.6900C>A (p.Tyr2300Ter)
c.355C>A
n.6986C>A
19g.38499119C=CA2335052594RYR1c.6903C= (p.Tyr2301=)
c.6900C= (p.Tyr2300=)
c.355C=
n.6986C=
19g.38499119C>GCA405667104RYR1c.6903C>G (p.Tyr2301Ter)
c.6900C>G (p.Tyr2300Ter)
c.355C>G
n.6986C>G
19g.38499119C>TCA068920RYR1c.6903C>T (p.Tyr2301=)
c.6900C>T (p.Tyr2300=)
c.355C>T
n.6986C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499120C>ACA405667108RYR1c.6904C>A (p.Leu2302Met)
c.6901C>A (p.Leu2301Met)
c.356C>A
n.6987C>A
19g.38499120C=CA2335052595RYR1c.6904C= (p.Leu2302=)
c.6901C= (p.Leu2301=)
c.356C=
n.6987C=
19g.38499120C>GCA405667109RYR1c.6904C>G (p.Leu2302Val)
c.6901C>G (p.Leu2301Val)
c.356C>G
n.6987C>G
19g.38499120C>TCA10603865RYR1c.6904C>T (p.Leu2302=)
c.6901C>T (p.Leu2301=)
c.356C>T
n.6987C>T
 ClinVar dbSNP
19g.38499121T>ACA405667112RYR1c.6905T>A (p.Leu2302Gln)
c.6902T>A (p.Leu2301Gln)
c.357T>A
n.6988T>A
19g.38499121T>CCA405667113RYR1c.6905T>C (p.Leu2302Pro)
c.6902T>C (p.Leu2301Pro)
c.357T>C
n.6988T>C
19g.38499121T>GCA405667114RYR1c.6905T>G (p.Leu2302Arg)
c.6902T>G (p.Leu2301Arg)
c.357T>G
n.6988T>G
 gnomAD v4
19g.38499121dupCA082241RYR1c.6905dup (p.Ala2303GlyfsTer?)
c.6902dup (p.Ala2302GlyfsTer?)
c.357dup
n.6988dup
19g.38499122G>ACA507243089RYR1c.6906G>A (p.Leu2302=)
c.6903G>A (p.Leu2301=)
c.358G>A
n.6989G>A
19g.38499122G>CCA507243090RYR1c.6906G>C (p.Leu2302=)
c.6903G>C (p.Leu2301=)
c.358G>C
n.6989G>C
 ClinVar
19g.38499122G>TCA507243091RYR1c.6906G>T (p.Leu2302=)
c.6903G>T (p.Leu2301=)
c.358G>T
n.6989G>T
 gnomAD v4
19g.38499123G>ACA405667117RYR1c.6907G>A (p.Ala2303Thr)
c.6904G>A (p.Ala2302Thr)
c.359G>A
n.6990G>A
19g.38499123G>CCA405667118RYR1c.6907G>C (p.Ala2303Pro)
c.6904G>C (p.Ala2302Pro)
c.359G>C
n.6990G>C
19g.38499123G>TCA405667120RYR1c.6907G>T (p.Ala2303Ser)
c.6904G>T (p.Ala2302Ser)
c.359G>T
n.6990G>T
 gnomAD v4
19g.38499124C>ACA405667121RYR1c.6908C>A (p.Ala2303Glu)
c.6905C>A (p.Ala2302Glu)
c.360C>A
n.6991C>A
19g.38499124C=CA2335052596RYR1c.6908C= (p.Ala2303=)
c.6905C= (p.Ala2302=)
c.360C=
n.6991C=
19g.38499124C>GCA405667123RYR1c.6908C>G (p.Ala2303Gly)
c.6905C>G (p.Ala2302Gly)
c.360C>G
n.6991C>G
19g.38499124C>TCA308107247RYR1c.6908C>T (p.Ala2303Val)
c.6905C>T (p.Ala2302Val)
c.360C>T
n.6991C>T
 dbSNP gnomAD v4
19g.38499125A>CCA507243096RYR1c.6909A>C (p.Ala2303=)
c.6906A>C (p.Ala2302=)
c.361A>C
n.6992A>C
19g.38499125A>GCA507243098RYR1c.6909A>G (p.Ala2303=)
c.6906A>G (p.Ala2302=)
c.361A>G
n.6992A>G
19g.38499125A>TCA507243095RYR1c.6909A>T (p.Ala2303=)
c.6906A>T (p.Ala2302=)
c.361A>T
n.6992A>T
19g.38499126G>ACA068924RYR1c.6910G>A (p.Gly2304Ser)
c.6907G>A (p.Gly2303Ser)
c.362G>A
n.6993G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499126G>CCA405667127RYR1c.6910G>C (p.Gly2304Arg)
c.6907G>C (p.Gly2303Arg)
c.362G>C
n.6993G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499126G=CA2335052597RYR1c.6910G= (p.Gly2304=)
c.6907G= (p.Gly2303=)
c.362G=
n.6993G=
19g.38499126G>TCA405667126RYR1c.6910G>T (p.Gly2304Cys)
c.6907G>T (p.Gly2303Cys)
c.362G>T
n.6993G>T
19g.38499126_38499127insTCA082243RYR1c.6910_6911insT (p.Gly2304ValfsTer?)
c.6907_6908insT (p.Gly2303ValfsTer?)
c.362_363insT
n.6993_6994insT
19g.38499127G>ACA405667130RYR1c.6911G>A (p.Gly2304Asp)
c.6908G>A (p.Gly2303Asp)
c.363G>A
n.6994G>A
19g.38499127G>CCA068925RYR1c.6911G>C (p.Gly2304Ala)
c.6908G>C (p.Gly2303Ala)
c.363G>C
n.6994G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499127G=CA2335052598RYR1c.6911G= (p.Gly2304=)
c.6908G= (p.Gly2303=)
c.363G=
n.6994G=
19g.38499127G>TCA405667131RYR1c.6911G>T (p.Gly2304Val)
c.6908G>T (p.Gly2303Val)
c.363G>T
n.6994G>T
19g.38499128C>ACA507243106RYR1c.6912C>A (p.Gly2304=)
c.6909C>A (p.Gly2303=)
c.364C>A
n.6995C>A
19g.38499128C>GCA507243107RYR1c.6912C>G (p.Gly2304=)
c.6909C>G (p.Gly2303=)
c.364C>G
n.6995C>G
 ClinVar
19g.38499128C>TCA507243108RYR1c.6912C>T (p.Gly2304=)
c.6909C>T (p.Gly2303=)
c.364C>T
n.6995C>T
19g.38499129T>ACA405667132RYR1c.6913T>A (p.Cys2305Ser)
c.6910T>A (p.Cys2304Ser)
c.365T>A
n.6996T>A
19g.38499129T>CCA405667133RYR1c.6913T>C (p.Cys2305Arg)
c.6910T>C (p.Cys2304Arg)
c.365T>C
n.6996T>C
19g.38499129T>GCA405667135RYR1c.6913T>G (p.Cys2305Gly)
c.6910T>G (p.Cys2304Gly)
c.365T>G
n.6996T>G
19g.38499130G>ACA405667136RYR1c.6914G>A (p.Cys2305Tyr)
c.6911G>A (p.Cys2304Tyr)
c.366G>A
n.6997G>A
19g.38499130G>CCA082270RYR1c.6914G>C (p.Cys2305Ser)
c.6911G>C (p.Cys2304Ser)
c.366G>C
n.6997G>C
 ClinVar gnomAD v4
19g.38499130G>TCA405667138RYR1c.6914G>T (p.Cys2305Phe)
c.6911G>T (p.Cys2304Phe)
c.366G>T
n.6997G>T
19g.38499131T>ACA405667140RYR1c.6915T>A (p.Cys2305Ter)
c.6912T>A (p.Cys2304Ter)
c.367T>A
n.6998T>A
19g.38499131T>CCA507243115RYR1c.6915T>C (p.Cys2305=)
c.6912T>C (p.Cys2304=)
c.367T>C
n.6998T>C
19g.38499131T>GCA405667141RYR1c.6915T>G (p.Cys2305Trp)
c.6912T>G (p.Cys2304Trp)
c.367T>G
n.6998T>G
 dbSNP
19g.38499132G>ACA405667142RYR1c.6916G>A (p.Gly2306Ser)
c.6913G>A (p.Gly2305Ser)
c.368G>A
n.6999G>A
19g.38499132G>CCA405667144RYR1c.6916G>C (p.Gly2306Arg)
c.6913G>C (p.Gly2305Arg)
c.368G>C
n.6999G>C
19g.38499132G>TCA405667146RYR1c.6916G>T (p.Gly2306Cys)
c.6913G>T (p.Gly2305Cys)
c.368G>T
n.6999G>T
19g.38499133G>ACA405667151RYR1c.6917G>A (p.Gly2306Asp)
c.6914G>A (p.Gly2305Asp)
c.369G>A
n.7000G>A
19g.38499133G>CCA405667149RYR1c.6917G>C (p.Gly2306Ala)
c.6914G>C (p.Gly2305Ala)
c.369G>C
n.7000G>C
19g.38499133G>TCA405667148RYR1c.6917G>T (p.Gly2306Val)
c.6914G>T (p.Gly2305Val)
c.369G>T
n.7000G>T
19g.38499134C>ACA507243122RYR1c.6918C>A (p.Gly2306=)
c.6915C>A (p.Gly2305=)
c.370C>A
n.7001C>A
19g.38499134C>GCA507243124RYR1c.6918C>G (p.Gly2306=)
c.6915C>G (p.Gly2305=)
c.370C>G
n.7001C>G
19g.38499134C>TCA507243126RYR1c.6918C>T (p.Gly2306=)
c.6915C>T (p.Gly2305=)
c.370C>T
n.7001C>T
19g.38499135C>ACA405667153RYR1c.6919C>A (p.Leu2307Ile)
c.6916C>A (p.Leu2306Ile)
c.371C>A
n.7002C>A
19g.38499135C>GCA405667154RYR1c.6919C>G (p.Leu2307Val)
c.6916C>G (p.Leu2306Val)
c.371C>G
n.7002C>G
19g.38499135C>TCA405667156RYR1c.6919C>T (p.Leu2307Phe)
c.6916C>T (p.Leu2306Phe)
c.371C>T
n.7002C>T
 gnomAD v4
19g.38499136T>ACA405667157RYR1c.6920T>A (p.Leu2307His)
c.6917T>A (p.Leu2306His)
c.372T>A
n.7003T>A
19g.38499136T>CCA405667159RYR1c.6920T>C (p.Leu2307Pro)
c.6917T>C (p.Leu2306Pro)
c.372T>C
n.7003T>C
19g.38499136T>GCA405667161RYR1c.6920T>G (p.Leu2307Arg)
c.6917T>G (p.Leu2306Arg)
c.372T>G
n.7003T>G
19g.38499137C>ACA507243133RYR1c.6921C>A (p.Leu2307=)
c.6918C>A (p.Leu2306=)
c.373C>A
n.7004C>A
19g.38499137C=CA2335052599RYR1c.6921C= (p.Leu2307=)
c.6918C= (p.Leu2306=)
c.373C=
n.7004C=
19g.38499137C>GCA068928RYR1c.6921C>G (p.Leu2307=)
c.6918C>G (p.Leu2306=)
c.373C>G
n.7004C>G
 ClinVar dbSNP ExAC gnomAD v2
19g.38499137C>TCA507243134RYR1c.6921C>T (p.Leu2307=)
c.6918C>T (p.Leu2306=)
c.373C>T
n.7004C>T
19g.38499138C>ACA405667163RYR1c.6922C>A (p.Gln2308Lys)
c.6919C>A (p.Gln2307Lys)
c.374C>A
n.7005C>A
19g.38499138C>GCA405667164RYR1c.6922C>G (p.Gln2308Glu)
c.6919C>G (p.Gln2307Glu)
c.374C>G
n.7005C>G
19g.38499138C>TCA405667166RYR1c.6922C>T (p.Gln2308Ter)
c.6919C>T (p.Gln2307Ter)
c.374C>T
n.7005C>T
19g.38499139A>CCA405667168RYR1c.6923A>C (p.Gln2308Pro)
c.6920A>C (p.Gln2307Pro)
c.375A>C
n.7006A>C
19g.38499139A>GCA405667169RYR1c.6923A>G (p.Gln2308Arg)
c.6920A>G (p.Gln2307Arg)
c.375A>G
n.7006A>G
19g.38499139A>TCA405667171RYR1c.6923A>T (p.Gln2308Leu)
c.6920A>T (p.Gln2307Leu)
c.375A>T
n.7006A>T
 ClinVar
19g.38499140G>ACA507243141RYR1c.6924G>A (p.Gln2308=)
c.6921G>A (p.Gln2307=)
c.376G>A
n.7007G>A
19g.38499140G>CCA405667174RYR1c.6924G>C (p.Gln2308His)
c.6921G>C (p.Gln2307His)
c.376G>C
n.7007G>C
19g.38499140G>TCA405667173RYR1c.6924G>T (p.Gln2308His)
c.6921G>T (p.Gln2307His)
c.376G>T
n.7007G>T
19g.38499141A>CCA405667177RYR1c.6925A>C (p.Ser2309Arg)
c.6922A>C (p.Ser2308Arg)
c.377A>C
n.7008A>C
19g.38499141A>GCA405667179RYR1c.6925A>G (p.Ser2309Gly)
c.6922A>G (p.Ser2308Gly)
c.377A>G
n.7008A>G
19g.38499141A>TCA405667180RYR1c.6925A>T (p.Ser2309Cys)
c.6922A>T (p.Ser2308Cys)
c.377A>T
n.7008A>T

Number of alleles fetched