Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38510706A=CA2335058880RYR1c.9047A= (p.Tyr3016=)
c.9044A= (p.Tyr3015=)
c.2499A=
n.9130A=
19g.38510706A>CCA405683725RYR1c.9047A>C (p.Tyr3016Ser)
c.9044A>C (p.Tyr3015Ser)
c.2499A>C
n.9130A>C
19g.38510706A>GCA405683726RYR1c.9047A>G (p.Tyr3016Cys)
c.9044A>G (p.Tyr3015Cys)
c.2499A>G
n.9130A>G
 ClinVar dbSNP
19g.38510706A>TCA405683728RYR1c.9047A>T (p.Tyr3016Phe)
c.9044A>T (p.Tyr3015Phe)
c.2499A>T
n.9130A>T
19g.38510707T>ACA405683730RYR1c.9048T>A (p.Tyr3016Ter)
c.9045T>A (p.Tyr3015Ter)
c.2500T>A
n.9131T>A
19g.38510707T>CCA507246223RYR1c.9048T>C (p.Tyr3016=)
c.9045T>C (p.Tyr3015=)
c.2500T>C
n.9131T>C
19g.38510707T>GCA405683732RYR1c.9048T>G (p.Tyr3016Ter)
c.9045T>G (p.Tyr3015Ter)
c.2500T>G
n.9131T>G
19g.38510708T>ACA405683737RYR1c.9049T>A (p.Phe3017Ile)
c.9046T>A (p.Phe3016Ile)
c.2501T>A
n.9132T>A
19g.38510708T>CCA084318RYR1c.9049T>C (p.Phe3017Leu)
c.9046T>C (p.Phe3016Leu)
c.2501T>C
n.9132T>C
19g.38510708T>GCA405683734RYR1c.9049T>G (p.Phe3017Val)
c.9046T>G (p.Phe3016Val)
c.2501T>G
n.9132T>G
19g.38510709T>ACA405683738RYR1c.9050T>A (p.Phe3017Tyr)
c.9047T>A (p.Phe3016Tyr)
c.2502T>A
n.9133T>A
19g.38510709T>CCA405683739RYR1c.9050T>C (p.Phe3017Ser)
c.9047T>C (p.Phe3016Ser)
c.2502T>C
n.9133T>C
19g.38510709T>GCA405683741RYR1c.9050T>G (p.Phe3017Cys)
c.9047T>G (p.Phe3016Cys)
c.2502T>G
n.9133T>G
19g.38510710C>ACA405683744RYR1c.9051C>A (p.Phe3017Leu)
c.9048C>A (p.Phe3016Leu)
c.2503C>A
n.9134C>A
 gnomAD v4 COSMIC
19g.38510710C=CA2335058881RYR1c.9051C= (p.Phe3017=)
c.9048C= (p.Phe3016=)
c.2503C=
n.9134C=
19g.38510710C>GCA405683745RYR1c.9051C>G (p.Phe3017Leu)
c.9048C>G (p.Phe3016Leu)
c.2503C>G
n.9134C>G
19g.38510710C>TCA507246224RYR1c.9051C>T (p.Phe3017=)
c.9048C>T (p.Phe3016=)
c.2503C>T
n.9134C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38510711T>ACA405683748RYR1c.9052T>A (p.Leu3018Met)
c.9049T>A (p.Leu3017Met)
c.2504T>A
n.9135T>A
19g.38510711T>CCA507246226RYR1c.9052T>C (p.Leu3018=)
c.9049T>C (p.Leu3017=)
c.2504T>C
n.9135T>C
 ClinVar dbSNP
19g.38510711T>GCA405683750RYR1c.9052T>G (p.Leu3018Val)
c.9049T>G (p.Leu3017Val)
c.2504T>G
n.9135T>G
19g.38510711T=CA2335058882RYR1c.9052T= (p.Leu3018=)
c.9049T= (p.Leu3017=)
c.2504T=
n.9135T=
19g.38510712T>ACA405683752RYR1c.9053T>A (p.Leu3018Ter)
c.9050T>A (p.Leu3017Ter)
c.2505T>A
n.9136T>A
19g.38510712T>CCA405683754RYR1c.9053T>C (p.Leu3018Ser)
c.9050T>C (p.Leu3017Ser)
c.2505T>C
n.9136T>C
19g.38510712T>GCA405683757RYR1c.9053T>G (p.Leu3018Trp)
c.9050T>G (p.Leu3017Trp)
c.2505T>G
n.9136T>G
19g.38510713G>ACA507246227RYR1c.9054G>A (p.Leu3018=)
c.9051G>A (p.Leu3017=)
c.2506G>A
n.9137G>A
19g.38510713G>CCA405683759RYR1c.9054G>C (p.Leu3018Phe)
c.9051G>C (p.Leu3017Phe)
c.2506G>C
n.9137G>C
19g.38510713G>TCA405683761RYR1c.9054G>T (p.Leu3018Phe)
c.9051G>T (p.Leu3017Phe)
c.2506G>T
n.9137G>T
19g.38510714T>ACA405683772RYR1c.9055T>A (p.Ser3019Thr)
c.9052T>A (p.Ser3018Thr)
c.2507T>A
n.9138T>A
19g.38510714T>CCA405683766RYR1c.9055T>C (p.Ser3019Pro)
c.9052T>C (p.Ser3018Pro)
c.2507T>C
n.9138T>C
19g.38510714T>GCA405683763RYR1c.9055T>G (p.Ser3019Ala)
c.9052T>G (p.Ser3018Ala)
c.2507T>G
n.9138T>G
19g.38510715C>ACA405683774RYR1c.9056C>A (p.Ser3019Tyr)
c.9053C>A (p.Ser3018Tyr)
c.2508C>A
n.9139C>A
19g.38510715C=CA2335058883RYR1c.9056C= (p.Ser3019=)
c.9053C= (p.Ser3018=)
c.2508C=
n.9139C=
19g.38510715C>GCA308123300RYR1c.9056C>G (p.Ser3019Cys)
c.9053C>G (p.Ser3018Cys)
c.2508C>G
n.9139C>G
 dbSNP gnomAD v3 gnomAD v4
19g.38510715C>TCA405683776RYR1c.9056C>T (p.Ser3019Phe)
c.9053C>T (p.Ser3018Phe)
c.2508C>T
n.9139C>T
19g.38510716C>ACA507246228RYR1c.9057C>A (p.Ser3019=)
c.9054C>A (p.Ser3018=)
c.2509C>A
n.9140C>A
19g.38510716C=CA2335058884RYR1c.9057C= (p.Ser3019=)
c.9054C= (p.Ser3018=)
c.2509C=
n.9140C=
19g.38510716C>GCA507246229RYR1c.9057C>G (p.Ser3019=)
c.9054C>G (p.Ser3018=)
c.2509C>G
n.9140C>G
19g.38510716C>TCA507246231RYR1c.9057C>T (p.Ser3019=)
c.9054C>T (p.Ser3018=)
c.2509C>T
n.9140C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38510717A>CCA405683777RYR1c.9058A>C (p.Thr3020Pro)
c.9055A>C (p.Thr3019Pro)
c.2510A>C
n.9141A>C
19g.38510717A>GCA405683778RYR1c.9058A>G (p.Thr3020Ala)
c.9055A>G (p.Thr3019Ala)
c.2510A>G
n.9141A>G
 COSMIC
19g.38510717A>TCA405683779RYR1c.9058A>T (p.Thr3020Ser)
c.9055A>T (p.Thr3019Ser)
c.2510A>T
n.9141A>T
 ClinVar
19g.38510718C>ACA405683780RYR1c.9059C>A (p.Thr3020Asn)
c.9056C>A (p.Thr3019Asn)
c.2511C>A
n.9142C>A
19g.38510718C>GCA405683781RYR1c.9059C>G (p.Thr3020Ser)
c.9056C>G (p.Thr3019Ser)
c.2511C>G
n.9142C>G
19g.38510718C>TCA405683782RYR1c.9059C>T (p.Thr3020Ile)
c.9056C>T (p.Thr3019Ile)
c.2511C>T
n.9142C>T
 gnomAD v4
19g.38510719T>ACA507246235RYR1c.9060T>A (p.Thr3020=)
c.9057T>A (p.Thr3019=)
c.2512T>A
n.9143T>A
19g.38510719T>CCA507246236RYR1c.9060T>C (p.Thr3020=)
c.9057T>C (p.Thr3019=)
c.2512T>C
n.9143T>C
19g.38510719T>GCA507246234RYR1c.9060T>G (p.Thr3020=)
c.9057T>G (p.Thr3019=)
c.2512T>G
n.9143T>G
19g.38510720C>ACA405683783RYR1c.9061C>A (p.Pro3021Thr)
c.9058C>A (p.Pro3020Thr)
c.2513C>A
n.9144C>A
19g.38510720C=CA2335058885RYR1c.9061C= (p.Pro3021=)
c.9058C= (p.Pro3020=)
c.2513C=
n.9144C=
19g.38510720C>GCA405683784RYR1c.9061C>G (p.Pro3021Ala)
c.9058C>G (p.Pro3020Ala)
c.2513C>G
n.9144C>G
19g.38510720C>TCA405683786RYR1c.9061C>T (p.Pro3021Ser)
c.9058C>T (p.Pro3020Ser)
c.2513C>T
n.9144C>T
 ClinVar dbSNP gnomAD v4
19g.38510721C>ACA405683791RYR1c.9062C>A (p.Pro3021Gln)
c.9059C>A (p.Pro3020Gln)
c.2514C>A
n.9145C>A
 gnomAD v4
19g.38510721C=CA2335058886RYR1c.9062C= (p.Pro3021=)
c.9059C= (p.Pro3020=)
c.2514C=
n.9145C=
19g.38510721C>GCA405683789RYR1c.9062C>G (p.Pro3021Arg)
c.9059C>G (p.Pro3020Arg)
c.2514C>G
n.9145C>G
19g.38510721C>TCA073098RYR1c.9062C>T (p.Pro3021Leu)
c.9059C>T (p.Pro3020Leu)
c.2514C>T
n.9145C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38510722G>ACA073102RYR1c.9063G>A (p.Pro3021=)
c.9060G>A (p.Pro3020=)
c.2515G>A
n.9146G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38510722G>CCA507246238RYR1c.9063G>C (p.Pro3021=)
c.9060G>C (p.Pro3020=)
c.2515G>C
n.9146G>C
19g.38510722G=CA2335058887RYR1c.9063G= (p.Pro3021=)
c.9060G= (p.Pro3020=)
c.2515G=
n.9146G=
19g.38510722G>TCA507246239RYR1c.9063G>T (p.Pro3021=)
c.9060G>T (p.Pro3020=)
c.2515G>T
n.9146G>T
19g.38510723G>ACA405683798RYR1c.9064G>A (p.Ala3022Thr)
c.9061G>A (p.Ala3021Thr)
c.2516G>A
n.9147G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38510723G>CCA405683800RYR1c.9064G>C (p.Ala3022Pro)
c.9061G>C (p.Ala3021Pro)
c.2516G>C
n.9147G>C
19g.38510723G=CA2335058888RYR1c.9064G= (p.Ala3022=)
c.9061G= (p.Ala3021=)
c.2516G=
n.9147G=
19g.38510723G>TCA405683802RYR1c.9064G>T (p.Ala3022Ser)
c.9061G>T (p.Ala3021Ser)
c.2516G>T
n.9147G>T
19g.38510724C>ACA405683804RYR1c.9065C>A (p.Ala3022Asp)
c.9062C>A (p.Ala3021Asp)
c.2517C>A
n.9148C>A
19g.38510724C>GCA405683805RYR1c.9065C>G (p.Ala3022Gly)
c.9062C>G (p.Ala3021Gly)
c.2517C>G
n.9148C>G
19g.38510724C>TCA084320RYR1c.9065C>T (p.Ala3022Val)
c.9062C>T (p.Ala3021Val)
c.2517C>T
n.9148C>T
19g.38510725T>ACA507246244RYR1c.9066T>A (p.Ala3022=)
c.9063T>A (p.Ala3021=)
c.2518T>A
n.9149T>A
19g.38510725T>CCA507246245RYR1c.9066T>C (p.Ala3022=)
c.9063T>C (p.Ala3021=)
c.2518T>C
n.9149T>C
 gnomAD v4
19g.38510725T>GCA507246246RYR1c.9066T>G (p.Ala3022=)
c.9063T>G (p.Ala3021=)
c.2518T>G
n.9149T>G
19g.38510726A>CCA405683807RYR1c.9067A>C (p.Lys3023Gln)
c.9064A>C (p.Lys3022Gln)
c.2519A>C
n.9150A>C
19g.38510726A>GCA405683809RYR1c.9067A>G (p.Lys3023Glu)
c.9064A>G (p.Lys3022Glu)
c.2519A>G
n.9150A>G
19g.38510726A>TCA405683810RYR1c.9067A>T (p.Lys3023Ter)
c.9064A>T (p.Lys3022Ter)
c.2519A>T
n.9150A>T
19g.38510727A>CCA405683812RYR1c.9068A>C (p.Lys3023Thr)
c.9065A>C (p.Lys3022Thr)
c.2520A>C
n.9151A>C
19g.38510727A>GCA405683813RYR1c.9068A>G (p.Lys3023Arg)
c.9065A>G (p.Lys3022Arg)
c.2520A>G
n.9151A>G
 COSMIC
19g.38510727A>TCA405683814RYR1c.9068A>T (p.Lys3023Ile)
c.9065A>T (p.Lys3022Ile)
c.2520A>T
n.9151A>T
19g.38510728A>CCA405683818RYR1c.9069A>C (p.Lys3023Asn)
c.9066A>C (p.Lys3022Asn)
c.2521A>C
n.9152A>C
19g.38510728A>GCA507246248RYR1c.9069A>G (p.Lys3023=)
c.9066A>G (p.Lys3022=)
c.2521A>G
n.9152A>G
 gnomAD v4
19g.38510728A>TCA405683816RYR1c.9069A>T (p.Lys3023Asn)
c.9066A>T (p.Lys3022Asn)
c.2521A>T
n.9152A>T
19g.38510729G>ACA073109RYR1c.9070G>A (p.Val3024Met)
c.9067G>A (p.Val3023Met)
c.2522G>A
n.9153G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38510729G>CCA405683821RYR1c.9070G>C (p.Val3024Leu)
c.9067G>C (p.Val3023Leu)
c.2522G>C
n.9153G>C
19g.38510729G=CA2335058889RYR1c.9070G= (p.Val3024=)
c.9067G= (p.Val3023=)
c.2522G=
n.9153G=
19g.38510729G>TCA405683822RYR1c.9070G>T (p.Val3024Leu)
c.9067G>T (p.Val3023Leu)
c.2522G>T
n.9153G>T
19g.38510730T>ACA405683825RYR1c.9071T>A (p.Val3024Glu)
c.9068T>A (p.Val3023Glu)
c.2523T>A
n.9154T>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38510730T>CCA405683826RYR1c.9071T>C (p.Val3024Ala)
c.9068T>C (p.Val3023Ala)
c.2523T>C
n.9154T>C
 ClinVar dbSNP
19g.38510730T>GCA405683828RYR1c.9071T>G (p.Val3024Gly)
c.9068T>G (p.Val3023Gly)
c.2523T>G
n.9154T>G
19g.38510730T=CA2335058890RYR1c.9071T= (p.Val3024=)
c.9068T= (p.Val3023=)
c.2523T=
n.9154T=
19g.38510731G>ACA507246251RYR1c.9072G>A (p.Val3024=)
c.9069G>A (p.Val3023=)
c.2524G>A
n.9155G>A
19g.38510731G>CCA507246253RYR1c.9072G>C (p.Val3024=)
c.9069G>C (p.Val3023=)
c.2524G>C
n.9155G>C
 dbSNP gnomAD v2
19g.38510731G=CA2335058891RYR1c.9072G= (p.Val3024=)
c.9069G= (p.Val3023=)
c.2524G=
n.9155G=
19g.38510731G>TCA507246252RYR1c.9072G>T (p.Val3024=)
c.9069G>T (p.Val3023=)
c.2524G>T
n.9155G>T
19g.38510732C>ACA405683829RYR1c.9073C>A (p.Leu3025Met)
c.9070C>A (p.Leu3024Met)
c.2525C>A
n.9156C>A
19g.38510732C>GCA405683830RYR1c.9073C>G (p.Leu3025Val)
c.9070C>G (p.Leu3024Val)
c.2525C>G
n.9156C>G
19g.38510732C>TCA507246254RYR1c.9073C>T (p.Leu3025=)
c.9070C>T (p.Leu3024=)
c.2525C>T
n.9156C>T
19g.38510733T>ACA405683831RYR1c.9074T>A (p.Leu3025Gln)
c.9071T>A (p.Leu3024Gln)
c.2526T>A
n.9157T>A
19g.38510733T>CCA405683833RYR1c.9074T>C (p.Leu3025Pro)
c.9071T>C (p.Leu3024Pro)
c.2526T>C
n.9157T>C
 dbSNP gnomAD v4
19g.38510733T>GCA405683832RYR1c.9074T>G (p.Leu3025Arg)
c.9071T>G (p.Leu3024Arg)
c.2526T>G
n.9157T>G
19g.38510733T=CA2335058892RYR1c.9074T= (p.Leu3025=)
c.9071T= (p.Leu3024=)
c.2526T=
n.9157T=
19g.38510736_38510745delCA2697556554RYR1c.9077_9086del (p.Gly3026AlafsTer10)
c.9074_9083del (p.Gly3025AlafsTer10)
c.2529_2538del
n.9160_9169del
 ClinVar
19g.38510734G>ACA073112RYR1c.9075G>A (p.Leu3025=)
c.9072G>A (p.Leu3024=)
c.2527G>A
n.9158G>A
 ClinVar dbSNP ExAC
19g.38510734G>CCA507246256RYR1c.9075G>C (p.Leu3025=)
c.9072G>C (p.Leu3024=)
c.2527G>C
n.9158G>C
19g.38510734G=CA2335058893RYR1c.9075G= (p.Leu3025=)
c.9072G= (p.Leu3024=)
c.2527G=
n.9158G=
19g.38510734G>TCA507246257RYR1c.9075G>T (p.Leu3025=)
c.9072G>T (p.Leu3024=)
c.2527G>T
n.9158G>T
19g.38510735G>ACA405683835RYR1c.9076G>A (p.Gly3026Ser)
c.9073G>A (p.Gly3025Ser)
c.2528G>A
n.9159G>A
19g.38510735G>CCA405683837RYR1c.9076G>C (p.Gly3026Arg)
c.9073G>C (p.Gly3025Arg)
c.2528G>C
n.9159G>C
19g.38510735G>TCA405683839RYR1c.9076G>T (p.Gly3026Cys)
c.9073G>T (p.Gly3025Cys)
c.2528G>T
n.9159G>T
19g.38510736G>ACA405683842RYR1c.9077G>A (p.Gly3026Asp)
c.9074G>A (p.Gly3025Asp)
c.2529G>A
n.9160G>A
19g.38510736G>CCA405683845RYR1c.9077G>C (p.Gly3026Ala)
c.9074G>C (p.Gly3025Ala)
c.2529G>C
n.9160G>C
19g.38510736G>TCA405683843RYR1c.9077G>T (p.Gly3026Val)
c.9074G>T (p.Gly3025Val)
c.2529G>T
n.9160G>T
19g.38510737C>ACA507246258RYR1c.9078C>A (p.Gly3026=)
c.9075C>A (p.Gly3025=)
c.2530C>A
n.9161C>A
19g.38510737C>GCA507246259RYR1c.9078C>G (p.Gly3026=)
c.9075C>G (p.Gly3025=)
c.2530C>G
n.9161C>G
19g.38510737C>TCA507246260RYR1c.9078C>T (p.Gly3026=)
c.9075C>T (p.Gly3025=)
c.2530C>T
n.9161C>T
19g.38510738A>CCA405683846RYR1c.9079A>C (p.Ser3027Arg)
c.9076A>C (p.Ser3026Arg)
c.2531A>C
n.9162A>C
19g.38510738A>GCA405683847RYR1c.9079A>G (p.Ser3027Gly)
c.9076A>G (p.Ser3026Gly)
c.2531A>G
n.9162A>G
19g.38510738A>TCA405683848RYR1c.9079A>T (p.Ser3027Cys)
c.9076A>T (p.Ser3026Cys)
c.2531A>T
n.9162A>T
19g.38510738dupCA2584902839RYR1c.9079dup (p.Ser3027LysfsTer7)
c.9076dup (p.Ser3026LysfsTer7)
c.2531dup
n.9162dup
 gnomAD v4
19g.38510739G>ACA405683850RYR1c.9080G>A (p.Ser3027Asn)
c.9077G>A (p.Ser3026Asn)
c.2532G>A
n.9163G>A
19g.38510739G>CCA405683852RYR1c.9080G>C (p.Ser3027Thr)
c.9077G>C (p.Ser3026Thr)
c.2532G>C
n.9163G>C
19g.38510739G>TCA405683854RYR1c.9080G>T (p.Ser3027Ile)
c.9077G>T (p.Ser3026Ile)
c.2532G>T
n.9163G>T
 COSMIC
19g.38510740C>ACA405683855RYR1c.9081C>A (p.Ser3027Arg)
c.9078C>A (p.Ser3026Arg)
c.2533C>A
n.9164C>A
 COSMIC
19g.38510740C=CA2335058894RYR1c.9081C= (p.Ser3027=)
c.9078C= (p.Ser3026=)
c.2533C=
n.9164C=
19g.38510740C>GCA405683862RYR1c.9081C>G (p.Ser3027Arg)
c.9078C>G (p.Ser3026Arg)
c.2533C>G
n.9164C>G
19g.38510740C>TCA073119RYR1c.9081C>T (p.Ser3027=)
c.9078C>T (p.Ser3026=)
c.2533C>T
n.9164C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38510741G>ACA073123RYR1c.9082G>A (p.Gly3028Ser)
c.9079G>A (p.Gly3027Ser)
c.2534G>A
n.9165G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38510741G>CCA405683866RYR1c.9082G>C (p.Gly3028Arg)
c.9079G>C (p.Gly3027Arg)
c.2534G>C
n.9165G>C
19g.38510741G=CA2335058895RYR1c.9082G= (p.Gly3028=)
c.9079G= (p.Gly3027=)
c.2534G=
n.9165G=
19g.38510741G>TCA405683868RYR1c.9082G>T (p.Gly3028Cys)
c.9079G>T (p.Gly3027Cys)
c.2534G>T
n.9165G>T
 ClinVar
19g.38510742G>ACA405683873RYR1c.9083G>A (p.Gly3028Asp)
c.9080G>A (p.Gly3027Asp)
c.2535G>A
n.9166G>A
19g.38510742G>CCA405683869RYR1c.9083G>C (p.Gly3028Ala)
c.9080G>C (p.Gly3027Ala)
c.2535G>C
n.9166G>C
 ClinVar
19g.38510742G>TCA405683871RYR1c.9083G>T (p.Gly3028Val)
c.9080G>T (p.Gly3027Val)
c.2535G>T
n.9166G>T
19g.38510742_38510743insACA2584902840RYR1c.9083_9084insA (p.Gly3029TrpfsTer5)
c.9080_9081insA (p.Gly3028TrpfsTer5)
c.2535_2536insA
n.9166_9167insA
 gnomAD v4
19g.38510743T>ACA507246264RYR1c.9084T>A (p.Gly3028=)
c.9081T>A (p.Gly3027=)
c.2536T>A
n.9167T>A
19g.38510743T>CCA507246265RYR1c.9084T>C (p.Gly3028=)
c.9081T>C (p.Gly3027=)
c.2536T>C
n.9167T>C
19g.38510743T>GCA507246266RYR1c.9084T>G (p.Gly3028=)
c.9081T>G (p.Gly3027=)
c.2536T>G
n.9167T>G
 gnomAD v4
19g.38510744G>ACA084332RYR1c.9085G>A (p.Gly3029Ser)
c.9082G>A (p.Gly3028Ser)
c.2537G>A
n.9168G>A
19g.38510744G>CCA405683876RYR1c.9085G>C (p.Gly3029Arg)
c.9082G>C (p.Gly3028Arg)
c.2537G>C
n.9168G>C
19g.38510744G>TCA405683878RYR1c.9085G>T (p.Gly3029Cys)
c.9082G>T (p.Gly3028Cys)
c.2537G>T
n.9168G>T
19g.38510745G>ACA405683880RYR1c.9086G>A (p.Gly3029Asp)
c.9083G>A (p.Gly3028Asp)
c.2538G>A
n.9169G>A
19g.38510745G>CCA405683882RYR1c.9086G>C (p.Gly3029Ala)
c.9083G>C (p.Gly3028Ala)
c.2538G>C
n.9169G>C
 dbSNP
19g.38510745G=CA2335058896RYR1c.9086G= (p.Gly3029=)
c.9083G= (p.Gly3028=)
c.2538G=
n.9169G=
19g.38510745G>TCA405683884RYR1c.9086G>T (p.Gly3029Val)
c.9083G>T (p.Gly3028Val)
c.2538G>T
n.9169G>T
19g.38510746C>ACA507246270RYR1c.9087C>A (p.Gly3029=)
c.9084C>A (p.Gly3028=)
c.2539C>A
n.9170C>A
19g.38510746C>GCA507246271RYR1c.9087C>G (p.Gly3029=)
c.9084C>G (p.Gly3028=)
c.2539C>G
n.9170C>G
19g.38510746C>TCA507246272RYR1c.9087C>T (p.Gly3029=)
c.9084C>T (p.Gly3028=)
c.2539C>T
n.9170C>T
 ClinVar
19g.38510747C>ACA405683892RYR1c.9088C>A (p.His3030Asn)
c.9085C>A (p.His3029Asn)
c.2540C>A
n.9171C>A
19g.38510747C>GCA405683888RYR1c.9088C>G (p.His3030Asp)
c.9085C>G (p.His3029Asp)
c.2540C>G
n.9171C>G
19g.38510747C>TCA405683886RYR1c.9088C>T (p.His3030Tyr)
c.9085C>T (p.His3029Tyr)
c.2540C>T
n.9171C>T
 ClinVar
19g.38510748A>CCA405683894RYR1c.9089A>C (p.His3030Pro)
c.9086A>C (p.His3029Pro)
c.2541A>C
n.9172A>C
19g.38510748A>GCA405683897RYR1c.9089A>G (p.His3030Arg)
c.9086A>G (p.His3029Arg)
c.2541A>G
n.9172A>G
19g.38510748A>TCA405683899RYR1c.9089A>T (p.His3030Leu)
c.9086A>T (p.His3029Leu)
c.2541A>T
n.9172A>T
19g.38510749C>ACA073127RYR1c.9090C>A (p.His3030Gln)
c.9087C>A (p.His3029Gln)
c.2542C>A
n.9173C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38510749C=CA2335058897RYR1c.9090C= (p.His3030=)
c.9087C= (p.His3029=)
c.2542C=
n.9173C=
19g.38510749C>GCA405683902RYR1c.9090C>G (p.His3030Gln)
c.9087C>G (p.His3029Gln)
c.2542C>G
n.9173C>G
19g.38510749C>TCA073131RYR1c.9090C>T (p.His3030=)
c.9087C>T (p.His3029=)
c.2542C>T
n.9173C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38510750G>ACA073133RYR1c.9091G>A (p.Ala3031Thr)
c.9088G>A (p.Ala3030Thr)
c.2543G>A
n.9174G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38510750G>CCA405683909RYR1c.9091G>C (p.Ala3031Pro)
c.9088G>C (p.Ala3030Pro)
c.2543G>C
n.9174G>C
19g.38510750G=CA2335058898RYR1c.9091G= (p.Ala3031=)
c.9088G= (p.Ala3030=)
c.2543G=
n.9174G=
19g.38510750G>TCA405683906RYR1c.9091G>T (p.Ala3031Ser)
c.9088G>T (p.Ala3030Ser)
c.2543G>T
n.9174G>T
19g.38510751C>ACA405683911RYR1c.9092C>A (p.Ala3031Asp)
c.9089C>A (p.Ala3030Asp)
c.2544C>A
n.9175C>A
19g.38510751C>GCA405683913RYR1c.9092C>G (p.Ala3031Gly)
c.9089C>G (p.Ala3030Gly)
c.2544C>G
n.9175C>G
19g.38510751C>TCA405683914RYR1c.9092C>T (p.Ala3031Val)
c.9089C>T (p.Ala3030Val)
c.2544C>T
n.9175C>T
19g.38510752C>ACA084335RYR1c.9093C>A (p.Ala3031=)
c.9090C>A (p.Ala3030=)
c.2545C>A
n.9176C>A
19g.38510752C=CA2335058899RYR1c.9093C= (p.Ala3031=)
c.9090C= (p.Ala3030=)
c.2545C=
n.9176C=
19g.38510752C>GCA507246274RYR1c.9093C>G (p.Ala3031=)
c.9090C>G (p.Ala3030=)
c.2545C>G
n.9176C>G
19g.38510752C>TCA073137RYR1c.9093C>T (p.Ala3031=)
c.9090C>T (p.Ala3030=)
c.2545C>T
n.9176C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38510753T>ACA405683915RYR1c.9094T>A (p.Ser3032Thr)
c.9091T>A (p.Ser3031Thr)
c.2546T>A
n.9177T>A
19g.38510753T>CCA405683916RYR1c.9094T>C (p.Ser3032Pro)
c.9091T>C (p.Ser3031Pro)
c.2546T>C
n.9177T>C
19g.38510753T>GCA405683917RYR1c.9094T>G (p.Ser3032Ala)
c.9091T>G (p.Ser3031Ala)
c.2546T>G
n.9177T>G
19g.38510754C>ACA405683920RYR1c.9095C>A (p.Ser3032Tyr)
c.9092C>A (p.Ser3031Tyr)
c.2547C>A
n.9178C>A
 COSMIC
19g.38510754C>GCA405683922RYR1c.9095C>G (p.Ser3032Cys)
c.9092C>G (p.Ser3031Cys)
c.2547C>G
n.9178C>G
 gnomAD v4
19g.38510754C>TCA405683929RYR1c.9095C>T (p.Ser3032Phe)
c.9092C>T (p.Ser3031Phe)
c.2547C>T
n.9178C>T
19g.38510755T>ACA073142RYR1c.9096T>A (p.Ser3032=)
c.9093T>A (p.Ser3031=)
c.2548T>A
n.9179T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38510755T>CCA507246276RYR1c.9096T>C (p.Ser3032=)
c.9093T>C (p.Ser3031=)
c.2548T>C
n.9179T>C
19g.38510755T>GCA507246277RYR1c.9096T>G (p.Ser3032=)
c.9093T>G (p.Ser3031=)
c.2548T>G
n.9179T>G
19g.38510755T=CA2335058900RYR1c.9096T= (p.Ser3032=)
c.9093T= (p.Ser3031=)
c.2548T=
n.9179T=
19g.38510756A>CCA405683934RYR1c.9097A>C (p.Asn3033His)
c.9094A>C (p.Asn3032His)
c.2549A>C
n.9180A>C
19g.38510756A>GCA405683940RYR1c.9097A>G (p.Asn3033Asp)
c.9094A>G (p.Asn3032Asp)
c.2549A>G
n.9180A>G
19g.38510756A>TCA405683936RYR1c.9097A>T (p.Asn3033Tyr)
c.9094A>T (p.Asn3032Tyr)
c.2549A>T
n.9180A>T
19g.38510757A>CCA405683942RYR1c.9098A>C (p.Asn3033Thr)
c.9095A>C (p.Asn3032Thr)
c.2550A>C
n.9181A>C
19g.38510757A>GCA405683946RYR1c.9098A>G (p.Asn3033Ser)
c.9095A>G (p.Asn3032Ser)
c.2550A>G
n.9181A>G
 gnomAD v4
19g.38510757A>TCA405683945RYR1c.9098A>T (p.Asn3033Ile)
c.9095A>T (p.Asn3032Ile)
c.2550A>T
n.9181A>T
19g.38510758C>ACA405683949RYR1c.9099C>A (p.Asn3033Lys)
c.9096C>A (p.Asn3032Lys)
c.2551C>A
n.9182C>A
19g.38510758C>GCA405683962RYR1c.9099C>G (p.Asn3033Lys)
c.9096C>G (p.Asn3032Lys)
c.2551C>G
n.9182C>G
 gnomAD v4
19g.38510758C>TCA507246279RYR1c.9099C>T (p.Asn3033=)
c.9096C>T (p.Asn3032=)
c.2551C>T
n.9182C>T
 gnomAD v4
19g.38510759A>CCA405683965RYR1c.9100A>C (p.Lys3034Gln)
c.9097A>C (p.Lys3033Gln)
c.2552A>C
n.9183A>C
19g.38510759A>GCA405683967RYR1c.9100A>G (p.Lys3034Glu)
c.9097A>G (p.Lys3033Glu)
c.2552A>G
n.9183A>G
 gnomAD v4
19g.38510759A>TCA405683969RYR1c.9100A>T (p.Lys3034Ter)
c.9097A>T (p.Lys3033Ter)
c.2552A>T
n.9183A>T
19g.38510759_38510761delCA2584902841RYR1c.9100_9102del (p.Lys3034del)
c.9097_9099del (p.Lys3033del)
c.2552_2554del
n.9183_9185del
 gnomAD v4
19g.38510760A=CA2335058901RYR1c.9101A= (p.Lys3034=)
c.9098A= (p.Lys3033=)
c.2553A=
n.9184A=
19g.38510760A>CCA073148RYR1c.9101A>C (p.Lys3034Thr)
c.9098A>C (p.Lys3033Thr)
c.2553A>C
n.9184A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38510760A>GCA405683981RYR1c.9101A>G (p.Lys3034Arg)
c.9098A>G (p.Lys3033Arg)
c.2553A>G
n.9184A>G
19g.38510760A>TCA405683983RYR1c.9101A>T (p.Lys3034Met)
c.9098A>T (p.Lys3033Met)
c.2553A>T
n.9184A>T
19g.38510761G>ACA507246281RYR1c.9102G>A (p.Lys3034=)
c.9099G>A (p.Lys3033=)
c.2554G>A
n.9185G>A
 ClinVar
19g.38510761G>CCA405683985RYR1c.9102G>C (p.Lys3034Asn)
c.9099G>C (p.Lys3033Asn)
c.2554G>C
n.9185G>C
19g.38510761G>TCA405683986RYR1c.9102G>T (p.Lys3034Asn)
c.9099G>T (p.Lys3033Asn)
c.2554G>T
n.9185G>T
19g.38510762G>ACA405683987RYR1c.9103G>A (p.Glu3035Lys)
c.9100G>A (p.Glu3034Lys)
c.2555G>A
n.9186G>A
 ClinVar gnomAD v4
19g.38510762G>CCA308123387RYR1c.9103G>C (p.Glu3035Gln)
c.9100G>C (p.Glu3034Gln)
c.2555G>C
n.9186G>C
 ClinVar dbSNP gnomAD v4
19g.38510762G=CA2335058902RYR1c.9103G= (p.Glu3035=)
c.9100G= (p.Glu3034=)
c.2555G=
n.9186G=
19g.38510762G>TCA405683988RYR1c.9103G>T (p.Glu3035Ter)
c.9100G>T (p.Glu3034Ter)
c.2555G>T
n.9186G>T
19g.38510763A>CCA084346RYR1c.9104A>C (p.Glu3035Ala)
c.9101A>C (p.Glu3034Ala)
c.2556A>C
n.9187A>C
19g.38510763A>GCA405683989RYR1c.9104A>G (p.Glu3035Gly)
c.9101A>G (p.Glu3034Gly)
c.2556A>G
n.9187A>G
 COSMIC
19g.38510763A>TCA405683990RYR1c.9104A>T (p.Glu3035Val)
c.9101A>T (p.Glu3034Val)
c.2556A>T
n.9187A>T
19g.38510764G>ACA507246285RYR1c.9105G>A (p.Glu3035=)
c.9102G>A (p.Glu3034=)
c.2557G>A
n.9188G>A
19g.38510764G>CCA405683993RYR1c.9105G>C (p.Glu3035Asp)
c.9102G>C (p.Glu3034Asp)
c.2557G>C
n.9188G>C
19g.38510764G>TCA405683997RYR1c.9105G>T (p.Glu3035Asp)
c.9102G>T (p.Glu3034Asp)
c.2557G>T
n.9188G>T
19g.38510765A>CCA405684004RYR1c.9106A>C (p.Lys3036Gln)
c.9103A>C (p.Lys3035Gln)
c.2558A>C
n.9189A>C
19g.38510765A>GCA405684017RYR1c.9106A>G (p.Lys3036Glu)
c.9103A>G (p.Lys3035Glu)
c.2558A>G
n.9189A>G
19g.38510765A>TCA405684019RYR1c.9106A>T (p.Lys3036Ter)
c.9103A>T (p.Lys3035Ter)
c.2558A>T
n.9189A>T
19g.38510766delCA2584902842RYR1c.9107del (p.Lys3036ArgfsTer3)
c.9104del (p.Lys3035ArgfsTer3)
c.2559del
n.9190del
 gnomAD v4
19g.38510766A>CCA405684021RYR1c.9107A>C (p.Lys3036Thr)
c.9104A>C (p.Lys3035Thr)
c.2559A>C
n.9190A>C
19g.38510766A>GCA405684022RYR1c.9107A>G (p.Lys3036Arg)
c.9104A>G (p.Lys3035Arg)
c.2559A>G
n.9190A>G
19g.38510766A>TCA405684023RYR1c.9107A>T (p.Lys3036Met)
c.9104A>T (p.Lys3035Met)
c.2559A>T
n.9190A>T
19g.38510767G>ACA507246287RYR1c.9108G>A (p.Lys3036=)
c.9105G>A (p.Lys3035=)
c.2560G>A
n.9191G>A
 gnomAD v4
19g.38510767G>CCA405684024RYR1c.9108G>C (p.Lys3036Asn)
c.9105G>C (p.Lys3035Asn)
c.2560G>C
n.9191G>C
 gnomAD v4
19g.38510767G>TCA405684025RYR1c.9108G>T (p.Lys3036Asn)
c.9105G>T (p.Lys3035Asn)
c.2560G>T
n.9191G>T
19g.38510768G>ACA405684030RYR1c.9109G>A (p.Glu3037Lys)
c.9106G>A (p.Glu3036Lys)
c.2561G>A
n.9192G>A
 COSMIC
19g.38510768G>CCA405684038RYR1c.9109G>C (p.Glu3037Gln)
c.9106G>C (p.Glu3036Gln)
c.2561G>C
n.9192G>C
19g.38510768G>TCA405684028RYR1c.9109G>T (p.Glu3037Ter)
c.9106G>T (p.Glu3036Ter)
c.2561G>T
n.9192G>T
19g.38510769A>CCA405684043RYR1c.9110A>C (p.Glu3037Ala)
c.9107A>C (p.Glu3036Ala)
c.2562A>C
n.9193A>C
19g.38510769A>GCA405684045RYR1c.9110A>G (p.Glu3037Gly)
c.9107A>G (p.Glu3036Gly)
c.2562A>G
n.9193A>G
19g.38510769A>TCA405684054RYR1c.9110A>T (p.Glu3037Val)
c.9107A>T (p.Glu3036Val)
c.2562A>T
n.9193A>T
19g.38510770A>CCA405684058RYR1c.9111A>C (p.Glu3037Asp)
c.9108A>C (p.Glu3036Asp)
c.2563A>C
n.9194A>C
19g.38510770A>GCA507246290RYR1c.9111A>G (p.Glu3037=)
c.9108A>G (p.Glu3036=)
c.2563A>G
n.9194A>G
19g.38510770A>TCA405684061RYR1c.9111A>T (p.Glu3037Asp)
c.9108A>T (p.Glu3036Asp)
c.2563A>T
n.9194A>T
19g.38510771A=CA2335058903RYR1c.9112A= (p.Met3038=)
c.9109A= (p.Met3037=)
c.2564A=
n.9195A=
19g.38510771A>CCA405684062RYR1c.9112A>C (p.Met3038Leu)
c.9109A>C (p.Met3037Leu)
c.2564A>C
n.9195A>C
19g.38510771A>GCA405684065RYR1c.9112A>G (p.Met3038Val)
c.9109A>G (p.Met3037Val)
c.2564A>G
n.9195A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38510771A>TCA405684070RYR1c.9112A>T (p.Met3038Leu)
c.9109A>T (p.Met3037Leu)
c.2564A>T
n.9195A>T
19g.38510772T>ACA405684077RYR1c.9113T>A (p.Met3038Lys)
c.9110T>A (p.Met3037Lys)
c.2565T>A
n.9196T>A
 gnomAD v4
19g.38510772T>CCA405684078RYR1c.9113T>C (p.Met3038Thr)
c.9110T>C (p.Met3037Thr)
c.2565T>C
n.9196T>C
 dbSNP gnomAD v2 gnomAD v4
19g.38510772T>GCA405684094RYR1c.9113T>G (p.Met3038Arg)
c.9110T>G (p.Met3037Arg)
c.2565T>G
n.9196T>G
19g.38510772T=CA2335058904RYR1c.9113T= (p.Met3038=)
c.9110T= (p.Met3037=)
c.2565T=
n.9196T=
19g.38510773G>ACA073152RYR1c.9114G>A (p.Met3038Ile)
c.9111G>A (p.Met3037Ile)
c.2566G>A
n.9197G>A
 dbSNP ExAC gnomAD v2
19g.38510773G>CCA405684107RYR1c.9114G>C (p.Met3038Ile)
c.9111G>C (p.Met3037Ile)
c.2566G>C
n.9197G>C
19g.38510773G=CA2335058905RYR1c.9114G= (p.Met3038=)
c.9111G= (p.Met3037=)
c.2566G=
n.9197G=
19g.38510773G>TCA405684098RYR1c.9114G>T (p.Met3038Ile)
c.9111G>T (p.Met3037Ile)
c.2566G>T
n.9197G>T
19g.38510774A>CCA405684114RYR1c.9115A>C (p.Ile3039Leu)
c.9112A>C (p.Ile3038Leu)
c.2567A>C
n.9198A>C
19g.38510774A>GCA405684118RYR1c.9115A>G (p.Ile3039Val)
c.9112A>G (p.Ile3038Val)
c.2567A>G
n.9198A>G
19g.38510774A>TCA405684119RYR1c.9115A>T (p.Ile3039Phe)
c.9112A>T (p.Ile3038Phe)
c.2567A>T
n.9198A>T
19g.38510775T>ACA405684128RYR1c.9116T>A (p.Ile3039Asn)
c.9113T>A (p.Ile3038Asn)
c.2568T>A
n.9199T>A
19g.38510775T>CCA405684131RYR1c.9116T>C (p.Ile3039Thr)
c.9113T>C (p.Ile3038Thr)
c.2568T>C
n.9199T>C
19g.38510775T>GCA405684132RYR1c.9116T>G (p.Ile3039Ser)
c.9113T>G (p.Ile3038Ser)
c.2568T>G
n.9199T>G
19g.38510776C>ACA507246292RYR1c.9117C>A (p.Ile3039=)
c.9114C>A (p.Ile3038=)
c.2569C>A
n.9200C>A
19g.38510776C>GCA405684135RYR1c.9117C>G (p.Ile3039Met)
c.9114C>G (p.Ile3038Met)
c.2569C>G
n.9200C>G
19g.38510776C>TCA507246295RYR1c.9117C>T (p.Ile3039=)
c.9114C>T (p.Ile3038=)
c.2569C>T
n.9200C>T
19g.38510777A>CCA405684138RYR1c.9118A>C (p.Thr3040Pro)
c.9115A>C (p.Thr3039Pro)
c.2570A>C
n.9201A>C
19g.38510777A>GCA405684142RYR1c.9118A>G (p.Thr3040Ala)
c.9115A>G (p.Thr3039Ala)
c.2570A>G
n.9201A>G
19g.38510777A>TCA405684146RYR1c.9118A>T (p.Thr3040Ser)
c.9115A>T (p.Thr3039Ser)
c.2570A>T
n.9201A>T
19g.38510778C>ACA405684153RYR1c.9119C>A (p.Thr3040Asn)
c.9116C>A (p.Thr3039Asn)
c.2571C>A
n.9202C>A
 ClinVar
19g.38510778C>GCA405684155RYR1c.9119C>G (p.Thr3040Ser)
c.9116C>G (p.Thr3039Ser)
c.2571C>G
n.9202C>G
19g.38510778C>TCA405684159RYR1c.9119C>T (p.Thr3040Ile)
c.9116C>T (p.Thr3039Ile)
c.2571C>T
n.9202C>T
19g.38510779C>ACA507246296RYR1c.9120C>A (p.Thr3040=)
c.9117C>A (p.Thr3039=)
c.2572C>A
n.9203C>A
19g.38510779C>GCA507246297RYR1c.9120C>G (p.Thr3040=)
c.9117C>G (p.Thr3039=)
c.2572C>G
n.9203C>G
 gnomAD v4
19g.38510779C>TCA507246299RYR1c.9120C>T (p.Thr3040=)
c.9117C>T (p.Thr3039=)
c.2572C>T
n.9203C>T
19g.38510780A>CCA405684166RYR1c.9121A>C (p.Ser3041Arg)
c.9118A>C (p.Ser3040Arg)
c.2573A>C
n.9204A>C
19g.38510780A>GCA405684182RYR1c.9121A>G (p.Ser3041Gly)
c.9118A>G (p.Ser3040Gly)
c.2573A>G
n.9204A>G
19g.38510780A>TCA405684163RYR1c.9121A>T (p.Ser3041Cys)
c.9118A>T (p.Ser3040Cys)
c.2573A>T
n.9204A>T
19g.38510780_38510781delinsCACA2573156330RYR1c.9121_9122delinsCA (p.Ser3041His)
c.9118_9119delinsCA (p.Ser3040His)
c.2573_2574delinsCA
n.9204_9205delinsCA
 ClinVar dbSNP
19g.38510781G>ACA308123409RYR1c.9122G>A (p.Ser3041Asn)
c.9119G>A (p.Ser3040Asn)
c.2574G>A
n.9205G>A
 dbSNP
19g.38510781G>CCA405684189RYR1c.9122G>C (p.Ser3041Thr)
c.9119G>C (p.Ser3040Thr)
c.2574G>C
n.9205G>C
19g.38510781G=CA2335058906RYR1c.9122G= (p.Ser3041=)
c.9119G= (p.Ser3040=)
c.2574G=
n.9205G=
19g.38510781G>TCA405684191RYR1c.9122G>T (p.Ser3041Ile)
c.9119G>T (p.Ser3040Ile)
c.2574G>T
n.9205G>T
19g.38510782G>ACA405684193RYR1c.9122+1G>A (n.9122+1G>A)
c.9119+1G>A (n.9119+1G>A)
c.2574+1G>A
n.9205+1G>A
19g.38510782G>CCA308123415RYR1c.9122+1G>C (n.9122+1G>C)
c.9119+1G>C (n.9119+1G>C)
c.2574+1G>C
n.9205+1G>C
 dbSNP
19g.38510782G=CA2335058907RYR1c.9122+1G= (n.9122+1G=)
c.9119+1G= (n.9119+1G=)
c.2574+1G=
n.9205+1G=
19g.38510782G>TCA405684197RYR1c.9122+1G>T (n.9122+1G>T)
c.9119+1G>T (n.9119+1G>T)
c.2574+1G>T
n.9205+1G>T
19g.38510783T>ACA405684200RYR1c.9122+2T>A (n.9122+2T>A)
c.9119+2T>A (n.9119+2T>A)
c.2574+2T>A
n.9205+2T>A
19g.38510783T>CCA405684204RYR1c.9122+2T>C (n.9122+2T>C)
c.9119+2T>C (n.9119+2T>C)
c.2574+2T>C
n.9205+2T>C
19g.38510783T>GCA405684206RYR1c.9122+2T>G (n.9122+2T>G)
c.9119+2T>G (n.9119+2T>G)
c.2574+2T>G
n.9205+2T>G
19g.38510784G>ACA2584902843RYR1c.9122+3G>A (n.9122+3G>A)
c.9119+3G>A (n.9119+3G>A)
c.2574+3G>A
n.9205+3G>A
 gnomAD v4
19g.38510785G>ACA2584902844RYR1c.9122+4G>A (n.9122+4G>A)
c.9119+4G>A (n.9119+4G>A)
c.2574+4G>A
n.9205+4G>A
 gnomAD v4
19g.38510786G>CCA2736033311RYR1c.9122+5G>C (n.9122+5G>C)
c.9119+5G>C (n.9119+5G>C)
c.2574+5G>C
n.9205+5G>C
 dbSNP
19g.38510788C>ACA2576771379RYR1c.9122+7C>A (n.9122+7C>A)
c.9119+7C>A (n.9119+7C>A)
c.2574+7C>A
n.9205+7C>A
 ClinVar gnomAD v4
19g.38510788C=CA2335058908RYR1c.9122+7C= (n.9122+7C=)
c.9119+7C= (n.9119+7C=)
c.2574+7C=
n.9205+7C=
19g.38510788C>GCA2335058909RYR1c.9122+7C>G (n.9122+7C>G)
c.9119+7C>G (n.9119+7C>G)
c.2574+7C>G
n.9205+7C>G
 dbSNP
19g.38510788C>TCA073179RYR1c.9122+7C>T (n.9122+7C>T)
c.9119+7C>T (n.9119+7C>T)
c.2574+7C>T
n.9205+7C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38510789G>ACA073182RYR1c.9122+8G>A (n.9122+8G>A)
c.9119+8G>A (n.9119+8G>A)
c.2574+8G>A
n.9205+8G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38510789G=CA2335058910RYR1c.9122+8G= (n.9122+8G=)
c.9119+8G= (n.9119+8G=)
c.2574+8G=
n.9205+8G=
19g.38510790C>ACA2697556555RYR1c.9122+9C>A (n.9122+9C>A)
c.9119+9C>A (n.9119+9C>A)
c.2574+9C>A
n.9205+9C>A
 ClinVar
19g.38510791delCA2584902846RYR1c.9122+10del (n.9122+10del)
c.9119+10del (n.9119+10del)
c.2574+10del
n.9205+10del
 gnomAD v4
19g.38510794_38510859delCA2584902845RYR1c.9122+13_9122+78del (n.9122+13_9122+78del)
c.9119+13_9119+78del (n.9119+13_9119+78del)
c.2574+13_2574+78del
n.9205+13_9205+78del
 gnomAD v4
19g.38510791C>ACA633066696RYR1c.9122+10C>A (n.9122+10C>A)
c.9119+10C>A (n.9119+10C>A)
c.2574+10C>A
n.9205+10C>A
 dbSNP gnomAD v2 gnomAD v4
19g.38510791C=CA2335058911RYR1c.9122+10C= (n.9122+10C=)
c.9119+10C= (n.9119+10C=)
c.2574+10C=
n.9205+10C=
19g.38510792T>CCA308123418RYR1c.9122+11T>C (n.9122+11T>C)
c.9119+11T>C (n.9119+11T>C)
c.2574+11T>C
n.9205+11T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38510792T=CA2335058912RYR1c.9122+11T= (n.9122+11T=)
c.9119+11T= (n.9119+11T=)
c.2574+11T=
n.9205+11T=
19g.38510793G>ACA2335058914RYR1c.9122+12G>A (n.9122+12G>A)
c.9119+12G>A (n.9119+12G>A)
c.2574+12G>A
n.9205+12G>A
 dbSNP gnomAD v4
19g.38510793G=CA2335058913RYR1c.9122+12G= (n.9122+12G=)
c.9119+12G= (n.9119+12G=)
c.2574+12G=
n.9205+12G=
19g.38510794T>CCA073154RYR1c.9122+13T>C (n.9122+13T>C)
c.9119+13T>C (n.9119+13T>C)
c.2574+13T>C
n.9205+13T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38510794T>GCA995728582RYR1c.9122+13T>G (n.9122+13T>G)
c.9119+13T>G (n.9119+13T>G)
c.2574+13T>G
n.9205+13T>G
 dbSNP gnomAD v3 gnomAD v4
19g.38510794T=CA2335058915RYR1c.9122+13T= (n.9122+13T=)
c.9119+13T= (n.9119+13T=)
c.2574+13T=
n.9205+13T=
19g.38510795G>ACA073156RYR1c.9122+14G>A (n.9122+14G>A)
c.9119+14G>A (n.9119+14G>A)
c.2574+14G>A
n.9205+14G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38510795G=CA2335058916RYR1c.9122+14G= (n.9122+14G=)
c.9119+14G= (n.9119+14G=)
c.2574+14G=
n.9205+14G=
19g.38510796A=CA2335058917RYR1c.9122+15A= (n.9122+15A=)
c.9119+15A= (n.9119+15A=)
c.2574+15A=
n.9205+15A=
19g.38510796A>GCA308123435RYR1c.9122+15A>G (n.9122+15A>G)
c.9119+15A>G (n.9119+15A>G)
c.2574+15A>G
n.9205+15A>G
 ClinVar dbSNP gnomAD v4
19g.38510799delCA2580097169RYR1c.9122+18del (n.9122+18del)
c.9119+18del (n.9119+18del)
c.2574+18del
n.9205+18del
 ClinVar
19g.38510799C=CA2335058918RYR1c.9122+18C= (n.9122+18C=)
c.9119+18C= (n.9119+18C=)
c.2574+18C=
n.9205+18C=
19g.38510799C>GCA2335058919RYR1c.9122+18C>G (n.9122+18C>G)
c.9119+18C>G (n.9119+18C>G)
c.2574+18C>G
n.9205+18C>G
 dbSNP gnomAD v4
19g.38510801G>ACA2584902847RYR1c.9122+20G>A (n.9122+20G>A)
c.9119+20G>A (n.9119+20G>A)
c.2574+20G>A
n.9205+20G>A
 gnomAD v4
19g.38510801G>CCA2584902848RYR1c.9122+20G>C (n.9122+20G>C)
c.9119+20G>C (n.9119+20G>C)
c.2574+20G>C
n.9205+20G>C
 gnomAD v4
19g.38510802G>ACA2584902849RYR1c.9122+21G>A (n.9122+21G>A)
c.9119+21G>A (n.9119+21G>A)
c.2574+21G>A
n.9205+21G>A
 gnomAD v4
19g.38510804C>TCA2584902850RYR1c.9122+23C>T (n.9122+23C>T)
c.9119+23C>T (n.9119+23C>T)
c.2574+23C>T
n.9205+23C>T
 gnomAD v4
19g.38510806C>ACA657212571RYR1c.9122+25C>A (n.9122+25C>A)
c.9119+25C>A (n.9119+25C>A)
c.2574+25C>A
n.9205+25C>A
 COSMIC

Number of alleles fetched