Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38500562A>GCA2584900513RYR1c.7324-44A>G (n.7324-44A>G)
c.7321-44A>G (n.7321-44A>G)
c.776-44A>G
n.7407-44A>G
gnomAD v4
19g.38500567C>ACA995716067RYR1c.7324-39C>A (n.7324-39C>A)
c.7321-39C>A (n.7321-39C>A)
c.776-39C>A
n.7407-39C>A
dbSNP gnomAD v3 gnomAD v4
19g.38500567C=CA2335053309RYR1c.7324-39C= (n.7324-39C=)
c.7321-39C= (n.7321-39C=)
c.776-39C=
n.7407-39C=
19g.38500567C>GCA2584900514RYR1c.7324-39C>G (n.7324-39C>G)
c.7321-39C>G (n.7321-39C>G)
c.776-39C>G
n.7407-39C>G
gnomAD v4
19g.38500567C>TCA069536RYR1c.7324-39C>T (n.7324-39C>T)
c.7321-39C>T (n.7321-39C>T)
c.776-39C>T
n.7407-39C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500568G>ACA308110239RYR1c.7324-38G>A (n.7324-38G>A)
c.7321-38G>A (n.7321-38G>A)
c.776-38G>A
n.7407-38G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38500568G=CA2335053310RYR1c.7324-38G= (n.7324-38G=)
c.7321-38G= (n.7321-38G=)
c.776-38G=
n.7407-38G=
19g.38500570C=CA2335053311RYR1c.7324-36C= (n.7324-36C=)
c.7321-36C= (n.7321-36C=)
c.776-36C=
n.7407-36C=
19g.38500570C>TCA082419RYR1c.7324-36C>T (n.7324-36C>T)
c.7321-36C>T (n.7321-36C>T)
c.776-36C>T
n.7407-36C>T
dbSNP gnomAD v2 gnomAD v4
19g.38500572G>ACA2736030148RYR1c.7324-34G>A (n.7324-34G>A)
c.7321-34G>A (n.7321-34G>A)
c.776-34G>A
n.7407-34G>A
dbSNP
19g.38500572G>CCA2576771115RYR1c.7324-34G>C (n.7324-34G>C)
c.7321-34G>C (n.7321-34G>C)
c.776-34G>C
n.7407-34G>C
19g.38500575G>ACA2814346284RYR1c.7324-31G>A (n.7324-31G>A)
c.7321-31G>A (n.7321-31G>A)
c.776-31G>A
n.7407-31G>A
19g.38500575G>TCA2736030188RYR1c.7324-31G>T (n.7324-31G>T)
c.7321-31G>T (n.7321-31G>T)
c.776-31G>T
n.7407-31G>T
dbSNP
19g.38500576A=CA2335053312RYR1c.7324-30A= (n.7324-30A=)
c.7321-30A= (n.7321-30A=)
c.776-30A=
n.7407-30A=
19g.38500576A>CCA2335053313RYR1c.7324-30A>C (n.7324-30A>C)
c.7321-30A>C (n.7321-30A>C)
c.776-30A>C
n.7407-30A>C
dbSNP
19g.38500576A>GCA069533RYR1c.7324-30A>G (n.7324-30A>G)
c.7321-30A>G (n.7321-30A>G)
c.776-30A>G
n.7407-30A>G
dbSNP ExAC gnomAD v2
19g.38500577G>CCA882052115RYR1c.7324-29G>C (n.7324-29G>C)
c.7321-29G>C (n.7321-29G>C)
c.776-29G>C
n.7407-29G>C
dbSNP
19g.38500577G=CA2335053314RYR1c.7324-29G= (n.7324-29G=)
c.7321-29G= (n.7321-29G=)
c.776-29G=
n.7407-29G=
19g.38500577G>TCA2735895792RYR1c.7324-29G>T (n.7324-29G>T)
c.7321-29G>T (n.7321-29G>T)
c.776-29G>T
n.7407-29G>T
dbSNP
19g.38500578T>CCA2584900515RYR1c.7324-28T>C (n.7324-28T>C)
c.7321-28T>C (n.7321-28T>C)
c.776-28T>C
n.7407-28T>C
gnomAD v4
19g.38500578T>GCA2736030297RYR1c.7324-28T>G (n.7324-28T>G)
c.7321-28T>G (n.7321-28T>G)
c.776-28T>G
n.7407-28T>G
dbSNP
19g.38500579G>ACA069531RYR1c.7324-27G>A (n.7324-27G>A)
c.7321-27G>A (n.7321-27G>A)
c.776-27G>A
n.7407-27G>A
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500579G=CA2335053315RYR1c.7324-27G= (n.7324-27G=)
c.7321-27G= (n.7321-27G=)
c.776-27G=
n.7407-27G=
19g.38500580C=CA2335053316RYR1c.7324-26C= (n.7324-26C=)
c.7321-26C= (n.7321-26C=)
c.776-26C=
n.7407-26C=
19g.38500580C>TCA2335053317RYR1c.7324-26C>T (n.7324-26C>T)
c.7321-26C>T (n.7321-26C>T)
c.776-26C>T
n.7407-26C>T
dbSNP gnomAD v4
19g.38500582_38500583delCA2584900516RYR1c.7324-24_7324-23del (n.7324-24_7324-23del)
c.7321-24_7321-23del (n.7321-24_7321-23del)
c.776-24_776-23del
n.7407-24_7407-23del
gnomAD v4
19g.38500581C>ACA632874713RYR1c.7324-25C>A (n.7324-25C>A)
c.7321-25C>A (n.7321-25C>A)
c.776-25C>A
n.7407-25C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38500581C=CA2335053318RYR1c.7324-25C= (n.7324-25C=)
c.7321-25C= (n.7321-25C=)
c.776-25C=
n.7407-25C=
19g.38500581C>TCA308110248RYR1c.7324-25C>T (n.7324-25C>T)
c.7321-25C>T (n.7321-25C>T)
c.776-25C>T
n.7407-25C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38500583C>ACA2735915895RYR1c.7324-23C>A (n.7324-23C>A)
c.7321-23C>A (n.7321-23C>A)
c.776-23C>A
n.7407-23C>A
dbSNP
19g.38500583C=CA2335053321RYR1c.7324-23C= (n.7324-23C=)
c.7321-23C= (n.7321-23C=)
c.776-23C=
n.7407-23C=
19g.38500583C>GCA2335053320RYR1c.7324-23C>G (n.7324-23C>G)
c.7321-23C>G (n.7321-23C>G)
c.776-23C>G
n.7407-23C>G
dbSNP
19g.38500583C>TCA2584900517RYR1c.7324-23C>T (n.7324-23C>T)
c.7321-23C>T (n.7321-23C>T)
c.776-23C>T
n.7407-23C>T
gnomAD v4
19g.38500583_38500584delinsCTCA2335053319RYR1c.7324-23_7324-22delinsCT (n.7324-23_7324-22delinsCT)
c.7321-23_7321-22delinsCT (n.7321-23_7321-22delinsCT)
c.776-23_776-22delinsCT
n.7407-23_7407-22delinsCT
19g.38500584delCA069527RYR1c.7324-22del (n.7324-22del)
c.7321-22del (n.7321-22del)
c.776-22del
n.7407-22del
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500585C=CA2335053322RYR1c.7324-21C= (n.7324-21C=)
c.7321-21C= (n.7321-21C=)
c.776-21C=
n.7407-21C=
19g.38500585C>TCA069525RYR1c.7324-21C>T (n.7324-21C>T)
c.7321-21C>T (n.7321-21C>T)
c.776-21C>T
n.7407-21C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500587C=CA2335053323RYR1c.7324-19C= (n.7324-19C=)
c.7321-19C= (n.7321-19C=)
c.776-19C=
n.7407-19C=
19g.38500587C>GCA2739276777RYR1c.7324-19C>G (n.7324-19C>G)
c.7321-19C>G (n.7321-19C>G)
c.776-19C>G
n.7407-19C>G
ClinVar
19g.38500587C>TCA024764RYR1c.7324-19C>T (n.7324-19C>T)
c.7321-19C>T (n.7321-19C>T)
c.776-19C>T
n.7407-19C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38500588C=CA2335053324RYR1c.7324-18C= (n.7324-18C=)
c.7321-18C= (n.7321-18C=)
c.776-18C=
n.7407-18C=
19g.38500588C>GCA632874714RYR1c.7324-18C>G (n.7324-18C>G)
c.7321-18C>G (n.7321-18C>G)
c.776-18C>G
n.7407-18C>G
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38500588C>TCA082415RYR1c.7324-18C>T (n.7324-18C>T)
c.7321-18C>T (n.7321-18C>T)
c.776-18C>T
n.7407-18C>T
19g.38500592C=CA2335053325RYR1c.7324-14C= (n.7324-14C=)
c.7321-14C= (n.7321-14C=)
c.776-14C=
n.7407-14C=
19g.38500592C>GCA069521RYR1c.7324-14C>G (n.7324-14C>G)
c.7321-14C>G (n.7321-14C>G)
c.776-14C>G
n.7407-14C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500592C>TCA2584900518RYR1c.7324-14C>T (n.7324-14C>T)
c.7321-14C>T (n.7321-14C>T)
c.776-14C>T
n.7407-14C>T
gnomAD v4
19g.38500592_38500596delinsCCTCTCA2335053326RYR1c.7324-14_7324-10delinsCCTCT (n.7324-14_7324-10delinsCCTCT)
c.7321-14_7321-10delinsCCTCT (n.7321-14_7321-10delinsCCTCT)
c.776-14_776-10delinsCCTCT
n.7407-14_7407-10delinsCCTCT
19g.38500593_38500594delinsCTCA2335053328RYR1c.7324-13_7324-12delinsCT (n.7324-13_7324-12delinsCT)
c.7321-13_7321-12delinsCT (n.7321-13_7321-12delinsCT)
c.776-13_776-12delinsCT
n.7407-13_7407-12delinsCT
19g.38500593_38500596delCA2335053327RYR1c.7324-13_7324-10del (n.7324-13_7324-10del)
c.7321-13_7321-10del (n.7321-13_7321-10del)
c.776-13_776-10del
n.7407-13_7407-10del
dbSNP
19g.38500594delCA069517RYR1c.7324-12del (n.7324-12del)
c.7321-12del (n.7321-12del)
c.776-12del
n.7407-12del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500594T>CCA2736030306RYR1c.7324-12T>C (n.7324-12T>C)
c.7321-12T>C (n.7321-12T>C)
c.776-12T>C
n.7407-12T>C
dbSNP
19g.38500595delCA405669783RYR1c.7324-11del (n.7324-11del)
c.7321-11del (n.7321-11del)
c.776-11del
n.7407-11del
19g.38500595C=CA2335053329RYR1c.7324-11C= (n.7324-11C=)
c.7321-11C= (n.7321-11C=)
c.776-11C=
n.7407-11C=
19g.38500595C>GCA082414RYR1c.7324-11C>G (n.7324-11C>G)
c.7321-11C>G (n.7321-11C>G)
c.776-11C>G
n.7407-11C>G
19g.38500596T>GCA2584900519RYR1c.7324-10T>G (n.7324-10T>G)
c.7321-10T>G (n.7321-10T>G)
c.776-10T>G
n.7407-10T>G
gnomAD v4
19g.38500596dupCA069515RYR1c.7324-10dup (n.7324-10dup)
c.7321-10dup (n.7321-10dup)
c.776-10dup
n.7407-10dup
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500597A=CA2335053330RYR1c.7324-9A= (n.7324-9A=)
c.7321-9A= (n.7321-9A=)
c.776-9A=
n.7407-9A=
19g.38500597A>CCA2580097212RYR1c.7324-9A>C (n.7324-9A>C)
c.7321-9A>C (n.7321-9A>C)
c.776-9A>C
n.7407-9A>C
ClinVar gnomAD v4
19g.38500597A>TCA632874715RYR1c.7324-9A>T (n.7324-9A>T)
c.7321-9A>T (n.7321-9A>T)
c.776-9A>T
n.7407-9A>T
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38500599dupCA082412RYR1c.7324-7dup (n.7324-7dup)
c.7321-7dup (n.7321-7dup)
c.776-7dup
n.7407-7dup
19g.38500600C=CA2335053331RYR1c.7324-6C= (n.7324-6C=)
c.7321-6C= (n.7321-6C=)
c.776-6C=
n.7407-6C=
19g.38500600C>TCA632874716RYR1c.7324-6C>T (n.7324-6C>T)
c.7321-6C>T (n.7321-6C>T)
c.776-6C>T
n.7407-6C>T
dbSNP gnomAD v2 gnomAD v4
19g.38500601C=CA2335053332RYR1c.7324-5C= (n.7324-5C=)
c.7321-5C= (n.7321-5C=)
c.776-5C=
n.7407-5C=
19g.38500601C>TCA069538RYR1c.7324-5C>T (n.7324-5C>T)
c.7321-5C>T (n.7321-5C>T)
c.776-5C>T
n.7407-5C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500604A>CCA405669788RYR1c.7324-2A>C (n.7324-2A>C)
c.7321-2A>C (n.7321-2A>C)
c.776-2A>C
n.7407-2A>C
19g.38500604A>GCA405669791RYR1c.7324-2A>G (n.7324-2A>G)
c.7321-2A>G (n.7321-2A>G)
c.776-2A>G
n.7407-2A>G
19g.38500604A>TCA405669794RYR1c.7324-2A>T (n.7324-2A>T)
c.7321-2A>T (n.7321-2A>T)
c.776-2A>T
n.7407-2A>T
19g.38500605G>ACA405669801RYR1c.7324-1G>A (n.7324-1G>A)
c.7321-1G>A (n.7321-1G>A)
c.776-1G>A
n.7407-1G>A
ClinVar dbSNP
19g.38500605G>CCA405669803RYR1c.7324-1G>C (n.7324-1G>C)
c.7321-1G>C (n.7321-1G>C)
c.776-1G>C
n.7407-1G>C
19g.38500605G=CA2335053333RYR1c.7324-1G= (n.7324-1G=)
c.7321-1G= (n.7321-1G=)
c.776-1G=
n.7407-1G=
19g.38500605G>TCA024767RYR1c.7324-1G>T (n.7324-1G>T)
c.7321-1G>T (n.7321-1G>T)
c.776-1G>T
n.7407-1G>T
ClinVar dbSNP
19g.38500606C>ACA405669805RYR1c.7324C>A (p.Leu2442Ile)
c.7321C>A (p.Leu2441Ile)
c.776C>A
n.7407C>A
19g.38500606C>GCA082401RYR1c.7324C>G (p.Leu2442Val)
c.7321C>G (p.Leu2441Val)
c.776C>G
n.7407C>G
19g.38500606C>TCA507243395RYR1c.7324C>T (p.Leu2442=)
c.7321C>T (p.Leu2441=)
c.776C>T
n.7407C>T
19g.38500607T>ACA405669806RYR1c.7325T>A (p.Leu2442Gln)
c.7322T>A (p.Leu2441Gln)
c.777T>A
n.7408T>A
19g.38500607T>CCA405669807RYR1c.7325T>C (p.Leu2442Pro)
c.7322T>C (p.Leu2441Pro)
c.777T>C
n.7408T>C
19g.38500607T>GCA405669809RYR1c.7325T>G (p.Leu2442Arg)
c.7322T>G (p.Leu2441Arg)
c.777T>G
n.7408T>G
19g.38500608A>CCA507243398RYR1c.7326A>C (p.Leu2442=)
c.7323A>C (p.Leu2441=)
c.778A>C
n.7409A>C
19g.38500608A>GCA507243397RYR1c.7326A>G (p.Leu2442=)
c.7323A>G (p.Leu2441=)
c.778A>G
n.7409A>G
19g.38500608A>TCA507243396RYR1c.7326A>T (p.Leu2442=)
c.7323A>T (p.Leu2441=)
c.778A>T
n.7409A>T
19g.38500609A=CA2335053334RYR1c.7327A= (p.Ile2443=)
c.7324A= (p.Ile2442=)
c.779A=
n.7410A=
19g.38500609A>CCA405669811RYR1c.7327A>C (p.Ile2443Leu)
c.7324A>C (p.Ile2442Leu)
c.779A>C
n.7410A>C
gnomAD v4
19g.38500609A>GCA405669813RYR1c.7327A>G (p.Ile2443Val)
c.7324A>G (p.Ile2442Val)
c.779A>G
n.7410A>G
dbSNP gnomAD v3 gnomAD v4
19g.38500609A>TCA405669815RYR1c.7327A>T (p.Ile2443Phe)
c.7324A>T (p.Ile2442Phe)
c.779A>T
n.7410A>T
19g.38500610T>ACA405669817RYR1c.7328T>A (p.Ile2443Asn)
c.7325T>A (p.Ile2442Asn)
c.780T>A
n.7411T>A
19g.38500610T>CCA405669819RYR1c.7328T>C (p.Ile2443Thr)
c.7325T>C (p.Ile2442Thr)
c.780T>C
n.7411T>C
ClinVar
19g.38500610T>GCA405669822RYR1c.7328T>G (p.Ile2443Ser)
c.7325T>G (p.Ile2442Ser)
c.780T>G
n.7411T>G
19g.38500611C>ACA507243403RYR1c.7329C>A (p.Ile2443=)
c.7326C>A (p.Ile2442=)
c.781C>A
n.7412C>A
19g.38500611C>GCA405669823RYR1c.7329C>G (p.Ile2443Met)
c.7326C>G (p.Ile2442Met)
c.781C>G
n.7412C>G
19g.38500611C>TCA507243402RYR1c.7329C>T (p.Ile2443=)
c.7326C>T (p.Ile2442=)
c.781C>T
n.7412C>T
19g.38500612C>ACA405669824RYR1c.7330C>A (p.Gln2444Lys)
c.7327C>A (p.Gln2443Lys)
c.782C>A
n.7413C>A
19g.38500612C=CA2335053335RYR1c.7330C= (p.Gln2444=)
c.7327C= (p.Gln2443=)
c.782C=
n.7413C=
19g.38500612C>GCA405669825RYR1c.7330C>G (p.Gln2444Glu)
c.7327C>G (p.Gln2443Glu)
c.782C>G
n.7413C>G
19g.38500612C>TCA405669827RYR1c.7330C>T (p.Gln2444Ter)
c.7327C>T (p.Gln2443Ter)
c.782C>T
n.7413C>T
ClinVar dbSNP
19g.38500613A>CCA405669830RYR1c.7331A>C (p.Gln2444Pro)
c.7328A>C (p.Gln2443Pro)
c.783A>C
n.7414A>C
19g.38500613A>GCA405669832RYR1c.7331A>G (p.Gln2444Arg)
c.7328A>G (p.Gln2443Arg)
c.783A>G
n.7414A>G
19g.38500613A>TCA405669829RYR1c.7331A>T (p.Gln2444Leu)
c.7328A>T (p.Gln2443Leu)
c.783A>T
n.7414A>T
19g.38500614A=CA2335053336RYR1c.7332A= (p.Gln2444=)
c.7329A= (p.Gln2443=)
c.784A=
n.7415A=
19g.38500614A>CCA405669833RYR1c.7332A>C (p.Gln2444His)
c.7329A>C (p.Gln2443His)
c.784A>C
n.7415A>C
19g.38500614A>GCA069543RYR1c.7332A>G (p.Gln2444=)
c.7329A>G (p.Gln2443=)
c.784A>G
n.7415A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500614A>TCA405669836RYR1c.7332A>T (p.Gln2444His)
c.7329A>T (p.Gln2443His)
c.784A>T
n.7415A>T
dbSNP
19g.38500615G>ACA405669839RYR1c.7333G>A (p.Ala2445Thr)
c.7330G>A (p.Ala2444Thr)
c.785G>A
n.7416G>A
19g.38500615G>CCA405669842RYR1c.7333G>C (p.Ala2445Pro)
c.7330G>C (p.Ala2444Pro)
c.785G>C
n.7416G>C
19g.38500615G>TCA405669851RYR1c.7333G>T (p.Ala2445Ser)
c.7330G>T (p.Ala2444Ser)
c.785G>T
n.7416G>T
19g.38500616C>ACA082411RYR1c.7334C>A (p.Ala2445Asp)
c.7331C>A (p.Ala2444Asp)
c.786C>A
n.7417C>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38500616C=CA2335053337RYR1c.7334C= (p.Ala2445=)
c.7331C= (p.Ala2444=)
c.786C=
n.7417C=
19g.38500616C>GCA405669855RYR1c.7334C>G (p.Ala2445Gly)
c.7331C>G (p.Ala2444Gly)
c.786C>G
n.7417C>G
19g.38500616C>TCA405669854RYR1c.7334C>T (p.Ala2445Val)
c.7331C>T (p.Ala2444Val)
c.786C>T
n.7417C>T
19g.38500617C>ACA507243409RYR1c.7335C>A (p.Ala2445=)
c.7332C>A (p.Ala2444=)
c.787C>A
n.7418C>A
19g.38500617C=CA2335053338RYR1c.7335C= (p.Ala2445=)
c.7332C= (p.Ala2444=)
c.787C=
n.7418C=
19g.38500617C>GCA507243410RYR1c.7335C>G (p.Ala2445=)
c.7332C>G (p.Ala2444=)
c.787C>G
n.7418C>G
19g.38500617C>TCA069546RYR1c.7335C>T (p.Ala2445=)
c.7332C>T (p.Ala2444=)
c.787C>T
n.7418C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500618G>ACA069551RYR1c.7336G>A (p.Gly2446Ser)
c.7333G>A (p.Gly2445Ser)
c.788G>A
n.7419G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500618G>CCA405669860RYR1c.7336G>C (p.Gly2446Arg)
c.7333G>C (p.Gly2445Arg)
c.788G>C
n.7419G>C
dbSNP
19g.38500618G=CA2335053339RYR1c.7336G= (p.Gly2446=)
c.7333G= (p.Gly2445=)
c.788G=
n.7419G=
19g.38500618G>TCA405669861RYR1c.7336G>T (p.Gly2446Cys)
c.7333G>T (p.Gly2445Cys)
c.788G>T
n.7419G>T
ClinVar
19g.38500619G>ACA405669877RYR1c.7337G>A (p.Gly2446Asp)
c.7334G>A (p.Gly2445Asp)
c.789G>A
n.7420G>A
19g.38500619G>CCA405669876RYR1c.7337G>C (p.Gly2446Ala)
c.7334G>C (p.Gly2445Ala)
c.789G>C
n.7420G>C
19g.38500619G>TCA405669874RYR1c.7337G>T (p.Gly2446Val)
c.7334G>T (p.Gly2445Val)
c.789G>T
n.7420G>T
19g.38500620C>ACA507243413RYR1c.7338C>A (p.Gly2446=)
c.7335C>A (p.Gly2445=)
c.790C>A
n.7421C>A
19g.38500620C>GCA507243414RYR1c.7338C>G (p.Gly2446=)
c.7335C>G (p.Gly2445=)
c.790C>G
n.7421C>G
19g.38500620C>TCA082422RYR1c.7338C>T (p.Gly2446=)
c.7335C>T (p.Gly2445=)
c.790C>T
n.7421C>T
19g.38500621A=CA2335053340RYR1c.7339A= (p.Lys2447=)
c.7336A= (p.Lys2446=)
c.791A=
n.7422A=
19g.38500621A>CCA405669880RYR1c.7339A>C (p.Lys2447Gln)
c.7336A>C (p.Lys2446Gln)
c.791A>C
n.7422A>C
19g.38500621A>GCA405669890RYR1c.7339A>G (p.Lys2447Glu)
c.7336A>G (p.Lys2446Glu)
c.791A>G
n.7422A>G
dbSNP
19g.38500621A>TCA405669887RYR1c.7339A>T (p.Lys2447Ter)
c.7336A>T (p.Lys2446Ter)
c.791A>T
n.7422A>T
19g.38500622A>CCA405669891RYR1c.7340A>C (p.Lys2447Thr)
c.7337A>C (p.Lys2446Thr)
c.792A>C
n.7423A>C
19g.38500622A>GCA405669895RYR1c.7340A>G (p.Lys2447Arg)
c.7337A>G (p.Lys2446Arg)
c.792A>G
n.7423A>G
19g.38500622A>TCA405669893RYR1c.7340A>T (p.Lys2447Met)
c.7337A>T (p.Lys2446Met)
c.792A>T
n.7423A>T
19g.38500623G>ACA507243417RYR1c.7341G>A (p.Lys2447=)
c.7338G>A (p.Lys2446=)
c.793G>A
n.7424G>A
COSMIC
19g.38500623G>CCA405669896RYR1c.7341G>C (p.Lys2447Asn)
c.7338G>C (p.Lys2446Asn)
c.793G>C
n.7424G>C
dbSNP gnomAD v3 gnomAD v4
19g.38500623G=CA2335053341RYR1c.7341G= (p.Lys2447=)
c.7338G= (p.Lys2446=)
c.793G=
n.7424G=
19g.38500623G>TCA405669899RYR1c.7341G>T (p.Lys2447Asn)
c.7338G>T (p.Lys2446Asn)
c.793G>T
n.7424G>T
COSMIC
19g.38500624G>ACA405669901RYR1c.7342G>A (p.Gly2448Ser)
c.7339G>A (p.Gly2447Ser)
c.794G>A
n.7425G>A
19g.38500624G>CCA405669903RYR1c.7342G>C (p.Gly2448Arg)
c.7339G>C (p.Gly2447Arg)
c.794G>C
n.7425G>C
19g.38500624G>TCA405669905RYR1c.7342G>T (p.Gly2448Cys)
c.7339G>T (p.Gly2447Cys)
c.794G>T
n.7425G>T
19g.38500625G>ACA405669908RYR1c.7343G>A (p.Gly2448Asp)
c.7340G>A (p.Gly2447Asp)
c.795G>A
n.7426G>A
ClinVar dbSNP
19g.38500625G>CCA405669909RYR1c.7343G>C (p.Gly2448Ala)
c.7340G>C (p.Gly2447Ala)
c.795G>C
n.7426G>C
19g.38500625G=CA2335053342RYR1c.7343G= (p.Gly2448=)
c.7340G= (p.Gly2447=)
c.795G=
n.7426G=
19g.38500625G>TCA405669911RYR1c.7343G>T (p.Gly2448Val)
c.7340G>T (p.Gly2447Val)
c.795G>T
n.7426G>T
19g.38500626T>ACA507243421RYR1c.7344T>A (p.Gly2448=)
c.7341T>A (p.Gly2447=)
c.796T>A
n.7427T>A
19g.38500626T>CCA069555RYR1c.7344T>C (p.Gly2448=)
c.7341T>C (p.Gly2447=)
c.796T>C
n.7427T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38500626T>GCA507243422RYR1c.7344T>G (p.Gly2448=)
c.7341T>G (p.Gly2447=)
c.796T>G
n.7427T>G
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38500626T=CA2335053343RYR1c.7344T= (p.Gly2448=)
c.7341T= (p.Gly2447=)
c.796T=
n.7427T=
19g.38500627G>ACA405669915RYR1c.7345G>A (p.Glu2449Lys)
c.7342G>A (p.Glu2448Lys)
c.797G>A
n.7428G>A
dbSNP gnomAD v2 gnomAD v4
19g.38500627G>CCA405669919RYR1c.7345G>C (p.Glu2449Gln)
c.7342G>C (p.Glu2448Gln)
c.797G>C
n.7428G>C
ClinVar dbSNP
19g.38500627G=CA2335053344RYR1c.7345G= (p.Glu2449=)
c.7342G= (p.Glu2448=)
c.797G=
n.7428G=
19g.38500627G>TCA405669921RYR1c.7345G>T (p.Glu2449Ter)
c.7342G>T (p.Glu2448Ter)
c.797G>T
n.7428G>T
19g.38500628A>CCA405669924RYR1c.7346A>C (p.Glu2449Ala)
c.7343A>C (p.Glu2448Ala)
c.798A>C
n.7429A>C
19g.38500628A>GCA405669926RYR1c.7346A>G (p.Glu2449Gly)
c.7343A>G (p.Glu2448Gly)
c.798A>G
n.7429A>G
19g.38500628A>TCA405669929RYR1c.7346A>T (p.Glu2449Val)
c.7343A>T (p.Glu2448Val)
c.798A>T
n.7429A>T
19g.38500629G>ACA507243426RYR1c.7347G>A (p.Glu2449=)
c.7344G>A (p.Glu2448=)
c.799G>A
n.7430G>A
19g.38500629G>CCA405669931RYR1c.7347G>C (p.Glu2449Asp)
c.7344G>C (p.Glu2448Asp)
c.799G>C
n.7430G>C
19g.38500629G>TCA405669933RYR1c.7347G>T (p.Glu2449Asp)
c.7344G>T (p.Glu2448Asp)
c.799G>T
n.7430G>T
19g.38500630G>ACA405669938RYR1c.7348G>A (p.Ala2450Thr)
c.7345G>A (p.Ala2449Thr)
c.800G>A
n.7431G>A
gnomAD v4
19g.38500630G>CCA405669941RYR1c.7348G>C (p.Ala2450Pro)
c.7345G>C (p.Ala2449Pro)
c.800G>C
n.7431G>C
19g.38500630G>TCA405669943RYR1c.7348G>T (p.Ala2450Ser)
c.7345G>T (p.Ala2449Ser)
c.800G>T
n.7431G>T
19g.38500631C>ACA405669947RYR1c.7349C>A (p.Ala2450Asp)
c.7346C>A (p.Ala2449Asp)
c.801C>A
n.7432C>A
gnomAD v4
19g.38500631C=CA2335053345RYR1c.7349C= (p.Ala2450=)
c.7346C= (p.Ala2449=)
c.801C=
n.7432C=
19g.38500631C>GCA405669950RYR1c.7349C>G (p.Ala2450Gly)
c.7346C>G (p.Ala2449Gly)
c.801C>G
n.7432C>G
19g.38500631C>TCA069560RYR1c.7349C>T (p.Ala2450Val)
c.7346C>T (p.Ala2449Val)
c.801C>T
n.7432C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500633delCA2736030310RYR1c.7351del (p.Leu2451CysfsTer?)
c.7348del (p.Leu2450CysfsTer?)
c.803del
n.7434del
dbSNP
19g.38500632C>ACA507243429RYR1c.7350C>A (p.Ala2450=)
c.7347C>A (p.Ala2449=)
c.802C>A
n.7433C>A
19g.38500632C=CA2335053346RYR1c.7350C= (p.Ala2450=)
c.7347C= (p.Ala2449=)
c.802C=
n.7433C=
19g.38500632C>GCA507243431RYR1c.7350C>G (p.Ala2450=)
c.7347C>G (p.Ala2449=)
c.802C>G
n.7433C>G
19g.38500632C>TCA507243432RYR1c.7350C>T (p.Ala2450=)
c.7347C>T (p.Ala2449=)
c.802C>T
n.7433C>T
dbSNP gnomAD v2 gnomAD v4
19g.38500633C>ACA405669956RYR1c.7351C>A (p.Leu2451Met)
c.7348C>A (p.Leu2450Met)
c.803C>A
n.7434C>A
19g.38500633C=CA2335053347RYR1c.7351C= (p.Leu2451=)
c.7348C= (p.Leu2450=)
c.803C=
n.7434C=
19g.38500633C>GCA405669957RYR1c.7351C>G (p.Leu2451Val)
c.7348C>G (p.Leu2450Val)
c.803C>G
n.7434C>G
19g.38500633C>TCA507243433RYR1c.7351C>T (p.Leu2451=)
c.7348C>T (p.Leu2450=)
c.803C>T
n.7434C>T
dbSNP
19g.38500634T>ACA405669958RYR1c.7352T>A (p.Leu2451Gln)
c.7349T>A (p.Leu2450Gln)
c.804T>A
n.7435T>A
19g.38500634T>CCA405669960RYR1c.7352T>C (p.Leu2451Pro)
c.7349T>C (p.Leu2450Pro)
c.804T>C
n.7435T>C
19g.38500634T>GCA405669963RYR1c.7352T>G (p.Leu2451Arg)
c.7349T>G (p.Leu2450Arg)
c.804T>G
n.7435T>G
19g.38500635G>ACA507243437RYR1c.7353G>A (p.Leu2451=)
c.7350G>A (p.Leu2450=)
c.805G>A
n.7436G>A
dbSNP gnomAD v2 gnomAD v4
19g.38500635G>CCA507243439RYR1c.7353G>C (p.Leu2451=)
c.7350G>C (p.Leu2450=)
c.805G>C
n.7436G>C
19g.38500635G=CA2335053348RYR1c.7353G= (p.Leu2451=)
c.7350G= (p.Leu2450=)
c.805G=
n.7436G=
19g.38500635G>TCA507243440RYR1c.7353G>T (p.Leu2451=)
c.7350G>T (p.Leu2450=)
c.805G>T
n.7436G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38500636C>ACA507243441RYR1c.7354C>A (p.Arg2452=)
c.7351C>A (p.Arg2451=)
c.806C>A
n.7437C>A
19g.38500636C=CA2335053349RYR1c.7354C= (p.Arg2452=)
c.7351C= (p.Arg2451=)
c.806C=
n.7437C=
19g.38500636C>GCA405669966RYR1c.7354C>G (p.Arg2452Gly)
c.7351C>G (p.Arg2451Gly)
c.806C>G
n.7437C>G
19g.38500636C>TCA024770RYR1c.7354C>T (p.Arg2452Trp)
c.7351C>T (p.Arg2451Trp)
c.806C>T
n.7437C>T
ClinVar dbSNP gnomAD v4
19g.38500637G>ACA024772RYR1c.7355G>A (p.Arg2452Gln)
c.7352G>A (p.Arg2451Gln)
c.807G>A
n.7438G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38500637G>CCA405669968RYR1c.7355G>C (p.Arg2452Pro)
c.7352G>C (p.Arg2451Pro)
c.807G>C
n.7438G>C
ClinVar dbSNP
19g.38500637G=CA2335053350RYR1c.7355G= (p.Arg2452=)
c.7352G= (p.Arg2451=)
c.807G=
n.7438G=
19g.38500637G>TCA405669969RYR1c.7355G>T (p.Arg2452Leu)
c.7352G>T (p.Arg2451Leu)
c.807G>T
n.7438G>T
19g.38500638G>ACA507243448RYR1c.7356G>A (p.Arg2452=)
c.7353G>A (p.Arg2451=)
c.808G>A
n.7439G>A
gnomAD v4 COSMIC
19g.38500638G>CCA507243449RYR1c.7356G>C (p.Arg2452=)
c.7353G>C (p.Arg2451=)
c.808G>C
n.7439G>C
gnomAD v4
19g.38500638G>TCA507243450RYR1c.7356G>T (p.Arg2452=)
c.7353G>T (p.Arg2451=)
c.808G>T
n.7439G>T
gnomAD v4
19g.38500639A=CA2335053351RYR1c.7357A= (p.Ile2453=)
c.7354A= (p.Ile2452=)
c.809A=
n.7440A=
19g.38500639A>CCA405669970RYR1c.7357A>C (p.Ile2453Leu)
c.7354A>C (p.Ile2452Leu)
c.809A>C
n.7440A>C
19g.38500639A>GCA069563RYR1c.7357A>G (p.Ile2453Val)
c.7354A>G (p.Ile2452Val)
c.809A>G
n.7440A>G
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500639A>TCA405669971RYR1c.7357A>T (p.Ile2453Phe)
c.7354A>T (p.Ile2452Phe)
c.809A>T
n.7440A>T
19g.38500640T>ACA405669973RYR1c.7358T>A (p.Ile2453Asn)
c.7355T>A (p.Ile2452Asn)
c.810T>A
n.7441T>A
19g.38500640T>CCA024775RYR1c.7358T>C (p.Ile2453Thr)
c.7355T>C (p.Ile2452Thr)
c.810T>C
n.7441T>C
ClinVar dbSNP
19g.38500640T>GCA405669975RYR1c.7358T>G (p.Ile2453Ser)
c.7355T>G (p.Ile2452Ser)
c.810T>G
n.7441T>G
19g.38500640T=CA2335053352RYR1c.7358T= (p.Ile2453=)
c.7355T= (p.Ile2452=)
c.810T=
n.7441T=
19g.38500641C>ACA507243458RYR1c.7359C>A (p.Ile2453=)
c.7356C>A (p.Ile2452=)
c.811C>A
n.7442C>A
gnomAD v4
19g.38500641C>GCA405669976RYR1c.7359C>G (p.Ile2453Met)
c.7356C>G (p.Ile2452Met)
c.811C>G
n.7442C>G
19g.38500641C>TCA507243460RYR1c.7359C>T (p.Ile2453=)
c.7356C>T (p.Ile2452=)
c.811C>T
n.7442C>T
19g.38500641_38500643delinsCCGCA2335053353RYR1c.7359_7361delinsCCG (p.Ile2453=)
c.7356_7358delinsCCG (p.Ile2452=)
c.811_813delinsCCG
n.7442_7444delinsCCG
19g.38500642C>ACA405669978RYR1c.7360C>A (p.Arg2454Ser)
c.7357C>A (p.Arg2453Ser)
c.812C>A
n.7443C>A
ClinVar
19g.38500642C=CA2335053354RYR1c.7360C= (p.Arg2454=)
c.7357C= (p.Arg2453=)
c.812C=
n.7443C=
19g.38500642C>GCA405669980RYR1c.7360C>G (p.Arg2454Gly)
c.7357C>G (p.Arg2453Gly)
c.812C>G
n.7443C>G
19g.38500642C>TCA024778RYR1c.7360C>T (p.Arg2454Cys)
c.7357C>T (p.Arg2453Cys)
c.812C>T
n.7443C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500645_38500646delCA632874717RYR1c.7363_7364del (p.Ala2455HisfsTer?)
c.7360_7361del (p.Ala2454HisfsTer?)
c.815_816del
n.7446_7447del
dbSNP gnomAD v2 gnomAD v4
19g.38500643G>ACA024781RYR1c.7361G>A (p.Arg2454His)
c.7358G>A (p.Arg2453His)
c.813G>A
n.7444G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500643G>CCA405669986RYR1c.7361G>C (p.Arg2454Pro)
c.7358G>C (p.Arg2453Pro)
c.813G>C
n.7444G>C
19g.38500643G=CA2335053355RYR1c.7361G= (p.Arg2454=)
c.7358G= (p.Arg2453=)
c.813G=
n.7444G=
19g.38500643G>TCA405669985RYR1c.7361G>T (p.Arg2454Leu)
c.7358G>T (p.Arg2453Leu)
c.813G>T
n.7444G>T
19g.38500644C>ACA507243464RYR1c.7362C>A (p.Arg2454=)
c.7359C>A (p.Arg2453=)
c.814C>A
n.7445C>A
19g.38500644C=CA2335053356RYR1c.7362C= (p.Arg2454=)
c.7359C= (p.Arg2453=)
c.814C=
n.7445C=
19g.38500644C>GCA507243465RYR1c.7362C>G (p.Arg2454=)
c.7359C>G (p.Arg2453=)
c.814C>G
n.7445C>G
19g.38500644C>TCA069571RYR1c.7362C>T (p.Arg2454=)
c.7359C>T (p.Arg2453=)
c.814C>T
n.7445C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38500645G>ACA069575RYR1c.7363G>A (p.Ala2455Thr)
c.7360G>A (p.Ala2454Thr)
c.815G>A
n.7446G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500645G>CCA405669990RYR1c.7363G>C (p.Ala2455Pro)
c.7360G>C (p.Ala2454Pro)
c.815G>C
n.7446G>C
19g.38500645G=CA2335053357RYR1c.7363G= (p.Ala2455=)
c.7360G= (p.Ala2454=)
c.815G=
n.7446G=
19g.38500645G>TCA405669993RYR1c.7363G>T (p.Ala2455Ser)
c.7360G>T (p.Ala2454Ser)
c.815G>T
n.7446G>T
19g.38500646C>ACA405669995RYR1c.7364C>A (p.Ala2455Asp)
c.7361C>A (p.Ala2454Asp)
c.816C>A
n.7447C>A
ClinVar dbSNP
19g.38500646C=CA2335053358RYR1c.7364C= (p.Ala2455=)
c.7361C= (p.Ala2454=)
c.816C=
n.7447C=
19g.38500646C>GCA405669998RYR1c.7364C>G (p.Ala2455Gly)
c.7361C>G (p.Ala2454Gly)
c.816C>G
n.7447C>G
19g.38500646C>TCA405670000RYR1c.7364C>T (p.Ala2455Val)
c.7361C>T (p.Ala2454Val)
c.816C>T
n.7447C>T
dbSNP
19g.38500647C>ACA507243469RYR1c.7365C>A (p.Ala2455=)
c.7362C>A (p.Ala2454=)
c.817C>A
n.7448C>A
19g.38500647C>GCA507243468RYR1c.7365C>G (p.Ala2455=)
c.7362C>G (p.Ala2454=)
c.817C>G
n.7448C>G
19g.38500647C>TCA082429RYR1c.7365C>T (p.Ala2455=)
c.7362C>T (p.Ala2454=)
c.817C>T
n.7448C>T
19g.38500648A>CCA405670002RYR1c.7366A>C (p.Ile2456Leu)
c.7363A>C (p.Ile2455Leu)
c.818A>C
n.7449A>C
19g.38500648A>GCA405670004RYR1c.7366A>G (p.Ile2456Val)
c.7363A>G (p.Ile2455Val)
c.818A>G
n.7449A>G
gnomAD v4
19g.38500648A>TCA405670007RYR1c.7366A>T (p.Ile2456Phe)
c.7363A>T (p.Ile2455Phe)
c.818A>T
n.7449A>T
19g.38500649delCA2584900520RYR1c.7367del (p.Ile2456ThrfsTer?)
c.7364del (p.Ile2455ThrfsTer?)
c.819del
n.7450del
gnomAD v4
19g.38500649T>ACA405670013RYR1c.7367T>A (p.Ile2456Asn)
c.7364T>A (p.Ile2455Asn)
c.819T>A
n.7450T>A
19g.38500649T>CCA405670014RYR1c.7367T>C (p.Ile2456Thr)
c.7364T>C (p.Ile2455Thr)
c.819T>C
n.7450T>C
19g.38500649T>GCA405670011RYR1c.7367T>G (p.Ile2456Ser)
c.7364T>G (p.Ile2455Ser)
c.819T>G
n.7450T>G
19g.38500650C>ACA507243475RYR1c.7368C>A (p.Ile2456=)
c.7365C>A (p.Ile2455=)
c.820C>A
n.7451C>A
19g.38500650C=CA2335053359RYR1c.7368C= (p.Ile2456=)
c.7365C= (p.Ile2455=)
c.820C=
n.7451C=
19g.38500650C>GCA405670016RYR1c.7368C>G (p.Ile2456Met)
c.7365C>G (p.Ile2455Met)
c.820C>G
n.7451C>G
ClinVar
19g.38500650C>TCA069579RYR1c.7368C>T (p.Ile2456=)
c.7365C>T (p.Ile2455=)
c.820C>T
n.7451C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500651C>ACA405670018RYR1c.7369C>A (p.Leu2457Ile)
c.7366C>A (p.Leu2456Ile)
c.821C>A
n.7452C>A
19g.38500651C>GCA405670020RYR1c.7369C>G (p.Leu2457Val)
c.7366C>G (p.Leu2456Val)
c.821C>G
n.7452C>G
19g.38500651C>TCA405670022RYR1c.7369C>T (p.Leu2457Phe)
c.7366C>T (p.Leu2456Phe)
c.821C>T
n.7452C>T
19g.38500652T>ACA405670026RYR1c.7370T>A (p.Leu2457His)
c.7367T>A (p.Leu2456His)
c.822T>A
n.7453T>A
19g.38500652T>CCA405670024RYR1c.7370T>C (p.Leu2457Pro)
c.7367T>C (p.Leu2456Pro)
c.822T>C
n.7453T>C
dbSNP gnomAD v2 gnomAD v4
19g.38500652T>GCA405670023RYR1c.7370T>G (p.Leu2457Arg)
c.7367T>G (p.Leu2456Arg)
c.822T>G
n.7453T>G
19g.38500652T=CA2335053360RYR1c.7370T= (p.Leu2457=)
c.7367T= (p.Leu2456=)
c.822T=
n.7453T=
19g.38500653C>ACA507243478RYR1c.7371C>A (p.Leu2457=)
c.7368C>A (p.Leu2456=)
c.823C>A
n.7454C>A
19g.38500653C>GCA507243480RYR1c.7371C>G (p.Leu2457=)
c.7368C>G (p.Leu2456=)
c.823C>G
n.7454C>G
19g.38500653C>TCA082431RYR1c.7371C>T (p.Leu2457=)
c.7368C>T (p.Leu2456=)
c.823C>T
n.7454C>T
19g.38500654C>ACA405670027RYR1c.7372C>A (p.Arg2458Ser)
c.7369C>A (p.Arg2457Ser)
c.824C>A
n.7455C>A
19g.38500654C=CA2335053361RYR1c.7372C= (p.Arg2458=)
c.7369C= (p.Arg2457=)
c.824C=
n.7455C=
19g.38500654C>GCA405670029RYR1c.7372C>G (p.Arg2458Gly)
c.7369C>G (p.Arg2457Gly)
c.824C>G
n.7455C>G
19g.38500654C>TCA024784RYR1c.7372C>T (p.Arg2458Cys)
c.7369C>T (p.Arg2457Cys)
c.824C>T
n.7455C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38500655G>ACA024787RYR1c.7373G>A (p.Arg2458His)
c.7370G>A (p.Arg2457His)
c.825G>A
n.7456G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38500655G>CCA405670031RYR1c.7373G>C (p.Arg2458Pro)
c.7370G>C (p.Arg2457Pro)
c.825G>C
n.7456G>C
19g.38500655G=CA2335053362RYR1c.7373G= (p.Arg2458=)
c.7370G= (p.Arg2457=)
c.825G=
n.7456G=
19g.38500655G>TCA405670033RYR1c.7373G>T (p.Arg2458Leu)
c.7370G>T (p.Arg2457Leu)
c.825G>T
n.7456G>T
ClinVar dbSNP gnomAD v4
19g.38500656C>ACA507243486RYR1c.7374C>A (p.Arg2458=)
c.7371C>A (p.Arg2457=)
c.826C>A
n.7457C>A
19g.38500656C>GCA507243488RYR1c.7374C>G (p.Arg2458=)
c.7371C>G (p.Arg2457=)
c.826C>G
n.7457C>G
19g.38500656C>TCA082407RYR1c.7374C>T (p.Arg2458=)
c.7371C>T (p.Arg2457=)
c.826C>T
n.7457C>T
ClinVar gnomAD v4
19g.38500657T>ACA405670035RYR1c.7375T>A (p.Ser2459Thr)
c.7372T>A (p.Ser2458Thr)
c.827T>A
n.7458T>A
19g.38500657T>CCA405670038RYR1c.7375T>C (p.Ser2459Pro)
c.7372T>C (p.Ser2458Pro)
c.827T>C
n.7458T>C
ClinVar dbSNP
19g.38500657T>GCA405670037RYR1c.7375T>G (p.Ser2459Ala)
c.7372T>G (p.Ser2458Ala)
c.827T>G
n.7458T>G
19g.38500657T=CA2335053363RYR1c.7375T= (p.Ser2459=)
c.7372T= (p.Ser2458=)
c.827T=
n.7458T=
19g.38500658C>ACA405670040RYR1c.7376C>A (p.Ser2459Tyr)
c.7373C>A (p.Ser2458Tyr)
c.828C>A
n.7459C>A
19g.38500658C>GCA405670041RYR1c.7376C>G (p.Ser2459Cys)
c.7373C>G (p.Ser2458Cys)
c.828C>G
n.7459C>G
19g.38500658C>TCA405670043RYR1c.7376C>T (p.Ser2459Phe)
c.7373C>T (p.Ser2458Phe)
c.828C>T
n.7459C>T
ClinVar COSMIC
19g.38500659C>ACA507353943RYR1c.7377C>A (p.Ser2459=)
c.7374C>A (p.Ser2458=)
c.829C>A
n.7460C>A
19g.38500659C>GCA507353944RYR1c.7377C>G (p.Ser2459=)
c.7374C>G (p.Ser2458=)
c.829C>G
n.7460C>G
19g.38500659C>TCA507353945RYR1c.7377C>T (p.Ser2459=)
c.7374C>T (p.Ser2458=)
c.829C>T
n.7460C>T
COSMIC
19g.38500660C>ACA405670044RYR1c.7378C>A (p.Leu2460Ile)
c.7375C>A (p.Leu2459Ile)
c.830C>A
n.7461C>A
19g.38500660C>GCA405670045RYR1c.7378C>G (p.Leu2460Val)
c.7375C>G (p.Leu2459Val)
c.830C>G
n.7461C>G
19g.38500660C>TCA405670047RYR1c.7378C>T (p.Leu2460Phe)
c.7375C>T (p.Leu2459Phe)
c.830C>T
n.7461C>T
ClinVar dbSNP
19g.38500661T>ACA405670049RYR1c.7379T>A (p.Leu2460His)
c.7376T>A (p.Leu2459His)
c.831T>A
n.7462T>A
19g.38500661T>CCA405670050RYR1c.7379T>C (p.Leu2460Pro)
c.7376T>C (p.Leu2459Pro)
c.831T>C
n.7462T>C
19g.38500661T>GCA405670052RYR1c.7379T>G (p.Leu2460Arg)
c.7376T>G (p.Leu2459Arg)
c.831T>G
n.7462T>G
19g.38500662T>ACA507353947RYR1c.7380T>A (p.Leu2460=)
c.7377T>A (p.Leu2459=)
c.832T>A
n.7463T>A
19g.38500662T>CCA507353948RYR1c.7380T>C (p.Leu2460=)
c.7377T>C (p.Leu2459=)
c.832T>C
n.7463T>C
19g.38500662T>GCA507353946RYR1c.7380T>G (p.Leu2460=)
c.7377T>G (p.Leu2459=)
c.832T>G
n.7463T>G
ClinVar dbSNP
19g.38500662T=CA2335053364RYR1c.7380T= (p.Leu2460=)
c.7377T= (p.Leu2459=)
c.832T=
n.7463T=

Number of alleles fetched