Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38502611_38502660dupCA2697556551RYR1c.7719_7768dup (p.Ser2590TyrfsTer?)
c.7716_7765dup (p.Ser2589TyrfsTer?)
c.1171_1220dup
n.7802_7851dup
 ClinVar
19g.38502651T>ACA405671980RYR1c.7759T>A (p.Tyr2587Asn)
c.7756T>A (p.Tyr2586Asn)
c.1211T>A
n.7842T>A
 gnomAD v4
19g.38502651T>CCA405671990RYR1c.7759T>C (p.Tyr2587His)
c.7756T>C (p.Tyr2586His)
c.1211T>C
n.7842T>C
19g.38502651T>GCA405671987RYR1c.7759T>G (p.Tyr2587Asp)
c.7756T>G (p.Tyr2586Asp)
c.1211T>G
n.7842T>G
19g.38502652A=CA2335054395RYR1c.7760A= (p.Tyr2587=)
c.7757A= (p.Tyr2586=)
c.1212A=
n.7843A=
19g.38502652A>CCA405671991RYR1c.7760A>C (p.Tyr2587Ser)
c.7757A>C (p.Tyr2586Ser)
c.1212A>C
n.7843A>C
 dbSNP
19g.38502652A>GCA070164RYR1c.7760A>G (p.Tyr2587Cys)
c.7757A>G (p.Tyr2586Cys)
c.1212A>G
n.7843A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502652A>TCA405671992RYR1c.7760A>T (p.Tyr2587Phe)
c.7757A>T (p.Tyr2586Phe)
c.1212A>T
n.7843A>T
 dbSNP
19g.38502653C>ACA405671993RYR1c.7761C>A (p.Tyr2587Ter)
c.7758C>A (p.Tyr2586Ter)
c.1213C>A
n.7844C>A
19g.38502653C=CA2335054396RYR1c.7761C= (p.Tyr2587=)
c.7758C= (p.Tyr2586=)
c.1213C=
n.7844C=
19g.38502653C>GCA405671994RYR1c.7761C>G (p.Tyr2587Ter)
c.7758C>G (p.Tyr2586Ter)
c.1213C>G
n.7844C>G
19g.38502653C>TCA070169RYR1c.7761C>T (p.Tyr2587=)
c.7758C>T (p.Tyr2586=)
c.1213C>T
n.7844C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502654C>ACA405671998RYR1c.7762C>A (p.Arg2588Ser)
c.7759C>A (p.Arg2587Ser)
c.1214C>A
n.7845C>A
19g.38502654C=CA2335054397RYR1c.7762C= (p.Arg2588=)
c.7759C= (p.Arg2587=)
c.1214C=
n.7845C=
19g.38502654C>GCA070174RYR1c.7762C>G (p.Arg2588Gly)
c.7759C>G (p.Arg2587Gly)
c.1214C>G
n.7845C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502654C>TCA070179RYR1c.7762C>T (p.Arg2588Cys)
c.7759C>T (p.Arg2587Cys)
c.1214C>T
n.7845C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38502655G>ACA070185RYR1c.7763G>A (p.Arg2588His)
c.7760G>A (p.Arg2587His)
c.1215G>A
n.7846G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502655G>CCA405672005RYR1c.7763G>C (p.Arg2588Pro)
c.7760G>C (p.Arg2587Pro)
c.1215G>C
n.7846G>C
 ClinVar gnomAD v4
19g.38502655G=CA2335054398RYR1c.7763G= (p.Arg2588=)
c.7760G= (p.Arg2587=)
c.1215G=
n.7846G=
19g.38502655G>TCA405672008RYR1c.7763G>T (p.Arg2588Leu)
c.7760G>T (p.Arg2587Leu)
c.1215G>T
n.7846G>T
 gnomAD v4
19g.38502656C>ACA507243850RYR1c.7764C>A (p.Arg2588=)
c.7761C>A (p.Arg2587=)
c.1216C>A
n.7847C>A
19g.38502656C=CA2335054399RYR1c.7764C= (p.Arg2588=)
c.7761C= (p.Arg2587=)
c.1216C=
n.7847C=
19g.38502656C>GCA507243852RYR1c.7764C>G (p.Arg2588=)
c.7761C>G (p.Arg2587=)
c.1216C>G
n.7847C>G
19g.38502656C>TCA082604RYR1c.7764C>T (p.Arg2588=)
c.7761C>T (p.Arg2587=)
c.1216C>T
n.7847C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502657C>ACA405672012RYR1c.7765C>A (p.Leu2589Met)
c.7762C>A (p.Leu2588Met)
c.1217C>A
n.7848C>A
 gnomAD v4
19g.38502657C=CA2335054400RYR1c.7765C= (p.Leu2589=)
c.7762C= (p.Leu2588=)
c.1217C=
n.7848C=
19g.38502657C>GCA082606RYR1c.7765C>G (p.Leu2589Val)
c.7762C>G (p.Leu2588Val)
c.1217C>G
n.7848C>G
19g.38502657C>TCA070189RYR1c.7765C>T (p.Leu2589=)
c.7762C>T (p.Leu2588=)
c.1217C>T
n.7848C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502658T>ACA405672015RYR1c.7766T>A (p.Leu2589Gln)
c.7763T>A (p.Leu2588Gln)
c.1218T>A
n.7849T>A
19g.38502658T>CCA405672021RYR1c.7766T>C (p.Leu2589Pro)
c.7763T>C (p.Leu2588Pro)
c.1218T>C
n.7849T>C
 gnomAD v4
19g.38502658T>GCA405672025RYR1c.7766T>G (p.Leu2589Arg)
c.7763T>G (p.Leu2588Arg)
c.1218T>G
n.7849T>G
19g.38502659G>ACA070193RYR1c.7767G>A (p.Leu2589=)
c.7764G>A (p.Leu2588=)
c.1219G>A
n.7850G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502659G>CCA507243859RYR1c.7767G>C (p.Leu2589=)
c.7764G>C (p.Leu2588=)
c.1219G>C
n.7850G>C
 ClinVar dbSNP
19g.38502659G=CA2335054401RYR1c.7767G= (p.Leu2589=)
c.7764G= (p.Leu2588=)
c.1219G=
n.7850G=
19g.38502659G>TCA507243860RYR1c.7767G>T (p.Leu2589=)
c.7764G>T (p.Leu2588=)
c.1219G>T
n.7850G>T
19g.38502660T>ACA405672038RYR1c.7768T>A (p.Ser2590Thr)
c.7765T>A (p.Ser2589Thr)
c.1220T>A
n.7851T>A
19g.38502660T>CCA405672031RYR1c.7768T>C (p.Ser2590Pro)
c.7765T>C (p.Ser2589Pro)
c.1220T>C
n.7851T>C
 dbSNP gnomAD v2 gnomAD v4
19g.38502660T>GCA405672035RYR1c.7768T>G (p.Ser2590Ala)
c.7765T>G (p.Ser2589Ala)
c.1220T>G
n.7851T>G
19g.38502660T=CA2335054402RYR1c.7768T= (p.Ser2590=)
c.7765T= (p.Ser2589=)
c.1220T=
n.7851T=
19g.38502661C>ACA405672041RYR1c.7769C>A (p.Ser2590Tyr)
c.7766C>A (p.Ser2589Tyr)
c.1221C>A
n.7852C>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.38502661C=CA2335054403RYR1c.7769C= (p.Ser2590=)
c.7766C= (p.Ser2589=)
c.1221C=
n.7852C=
19g.38502661C>GCA405672043RYR1c.7769C>G (p.Ser2590Cys)
c.7766C>G (p.Ser2589Cys)
c.1221C>G
n.7852C>G
 dbSNP gnomAD v4
19g.38502661C>TCA070200RYR1c.7769C>T (p.Ser2590Phe)
c.7766C>T (p.Ser2589Phe)
c.1221C>T
n.7852C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502662T>ACA507243864RYR1c.7770T>A (p.Ser2590=)
c.7767T>A (p.Ser2589=)
c.1222T>A
n.7853T>A
19g.38502662T>CCA507243866RYR1c.7770T>C (p.Ser2590=)
c.7767T>C (p.Ser2589=)
c.1222T>C
n.7853T>C
 gnomAD v4
19g.38502662T>GCA507243865RYR1c.7770T>G (p.Ser2590=)
c.7767T>G (p.Ser2589=)
c.1222T>G
n.7853T>G
 gnomAD v4
19g.38502662dupCA2697556553RYR1c.7770dup (p.Arg2591SerfsTer11)
c.7767dup (p.Arg2590SerfsTer11)
c.1222dup
n.7853dup
 ClinVar
19g.38502662_38502678dupCA2573054756RYR1c.7770_7786dup (p.Thr2596IlefsTer?)
c.7767_7783dup (p.Thr2595IlefsTer?)
c.1222_1238dup
n.7853_7869dup
 ClinVar dbSNP
19g.38502663C>ACA507243869RYR1c.7771C>A (p.Arg2591=)
c.7768C>A (p.Arg2590=)
c.1223C>A
n.7854C>A
 gnomAD v4
19g.38502663C=CA2335054404RYR1c.7771C= (p.Arg2591=)
c.7768C= (p.Arg2590=)
c.1223C=
n.7854C=
19g.38502663C>GCA024847RYR1c.7771C>G (p.Arg2591Gly)
c.7768C>G (p.Arg2590Gly)
c.1223C>G
n.7854C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502663C>TCA024850RYR1c.7771C>T (p.Arg2591Trp)
c.7768C>T (p.Arg2590Trp)
c.1223C>T
n.7854C>T
 ClinVar dbSNP gnomAD v4
19g.38502664G>ACA405672050RYR1c.7772G>A (p.Arg2591Gln)
c.7769G>A (p.Arg2590Gln)
c.1224G>A
n.7855G>A
 ClinVar dbSNP gnomAD v4
19g.38502664G>CCA070207RYR1c.7772G>C (p.Arg2591Pro)
c.7769G>C (p.Arg2590Pro)
c.1224G>C
n.7855G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502664G=CA2335054405RYR1c.7772G= (p.Arg2591=)
c.7769G= (p.Arg2590=)
c.1224G=
n.7855G=
19g.38502664G>TCA070209RYR1c.7772G>T (p.Arg2591Leu)
c.7769G>T (p.Arg2590Leu)
c.1224G>T
n.7855G>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38502667dupCA633066648RYR1c.7775dup (p.Arg2593SerfsTer9)
c.7772dup (p.Arg2592SerfsTer9)
c.1227dup
n.7858dup
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502667delCA2584900600RYR1c.7775del (p.Gly2592ValfsTer?)
c.7772del (p.Gly2591ValfsTer?)
c.1227del
n.7858del
 gnomAD v4
19g.38502665G>ACA507243874RYR1c.7773G>A (p.Arg2591=)
c.7770G>A (p.Arg2590=)
c.1225G>A
n.7856G>A
 gnomAD v4
19g.38502665G>CCA507243875RYR1c.7773G>C (p.Arg2591=)
c.7770G>C (p.Arg2590=)
c.1225G>C
n.7856G>C
19g.38502665G>TCA507243876RYR1c.7773G>T (p.Arg2591=)
c.7770G>T (p.Arg2590=)
c.1225G>T
n.7856G>T
 gnomAD v4
19g.38502666G>ACA405672051RYR1c.7774G>A (p.Gly2592Ser)
c.7771G>A (p.Gly2591Ser)
c.1226G>A
n.7857G>A
 dbSNP gnomAD v2 gnomAD v4
19g.38502666G>CCA405672053RYR1c.7774G>C (p.Gly2592Arg)
c.7771G>C (p.Gly2591Arg)
c.1226G>C
n.7857G>C
 ClinVar COSMIC
19g.38502666G=CA2335054406RYR1c.7774G= (p.Gly2592=)
c.7771G= (p.Gly2591=)
c.1226G=
n.7857G=
19g.38502666G>TCA405672055RYR1c.7774G>T (p.Gly2592Cys)
c.7771G>T (p.Gly2591Cys)
c.1226G>T
n.7857G>T
 gnomAD v4
19g.38502667G>ACA405672059RYR1c.7775G>A (p.Gly2592Asp)
c.7772G>A (p.Gly2591Asp)
c.1227G>A
n.7858G>A
 gnomAD v4
19g.38502667G>CCA082618RYR1c.7775G>C (p.Gly2592Ala)
c.7772G>C (p.Gly2591Ala)
c.1227G>C
n.7858G>C
19g.38502667G>TCA082620RYR1c.7775G>T (p.Gly2592Val)
c.7772G>T (p.Gly2591Val)
c.1227G>T
n.7858G>T
 gnomAD v4
19g.38502668T>ACA507243882RYR1c.7776T>A (p.Gly2592=)
c.7773T>A (p.Gly2591=)
c.1228T>A
n.7859T>A
19g.38502668T>CCA070214RYR1c.7776T>C (p.Gly2592=)
c.7773T>C (p.Gly2591=)
c.1228T>C
n.7859T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502668T>GCA507243883RYR1c.7776T>G (p.Gly2592=)
c.7773T>G (p.Gly2591=)
c.1228T>G
n.7859T>G
 gnomAD v3 gnomAD v4
19g.38502668T=CA2335054407RYR1c.7776T= (p.Gly2592=)
c.7773T= (p.Gly2591=)
c.1228T=
n.7859T=
19g.38502669C>ACA405672064RYR1c.7777C>A (p.Arg2593Ser)
c.7774C>A (p.Arg2592Ser)
c.1229C>A
n.7860C>A
19g.38502669C=CA2335054408RYR1c.7777C= (p.Arg2593=)
c.7774C= (p.Arg2592=)
c.1229C=
n.7860C=
19g.38502669C>GCA405672067RYR1c.7777C>G (p.Arg2593Gly)
c.7774C>G (p.Arg2592Gly)
c.1229C>G
n.7860C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502669C>TCA070217RYR1c.7777C>T (p.Arg2593Cys)
c.7774C>T (p.Arg2592Cys)
c.1229C>T
n.7860C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38502670G>ACA070222RYR1c.7778G>A (p.Arg2593His)
c.7775G>A (p.Arg2592His)
c.1230G>A
n.7861G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38502670G>CCA405672083RYR1c.7778G>C (p.Arg2593Pro)
c.7775G>C (p.Arg2592Pro)
c.1230G>C
n.7861G>C
19g.38502670G=CA2335054409RYR1c.7778G= (p.Arg2593=)
c.7775G= (p.Arg2592=)
c.1230G=
n.7861G=
19g.38502670G>TCA405672085RYR1c.7778G>T (p.Arg2593Leu)
c.7775G>T (p.Arg2592Leu)
c.1230G>T
n.7861G>T
 dbSNP gnomAD v3 gnomAD v4
19g.38502671T>ACA507243889RYR1c.7779T>A (p.Arg2593=)
c.7776T>A (p.Arg2592=)
c.1231T>A
n.7862T>A
19g.38502671T>CCA082622RYR1c.7779T>C (p.Arg2593=)
c.7776T>C (p.Arg2592=)
c.1231T>C
n.7862T>C
19g.38502671T>GCA507243888RYR1c.7779T>G (p.Arg2593=)
c.7776T>G (p.Arg2592=)
c.1231T>G
n.7862T>G
19g.38502672T>ACA405672110RYR1c.7780T>A (p.Ser2594Thr)
c.7777T>A (p.Ser2593Thr)
c.1232T>A
n.7863T>A
19g.38502672T>CCA405672096RYR1c.7780T>C (p.Ser2594Pro)
c.7777T>C (p.Ser2593Pro)
c.1232T>C
n.7863T>C
 dbSNP gnomAD v3 gnomAD v4
19g.38502672T>GCA405672099RYR1c.7780T>G (p.Ser2594Ala)
c.7777T>G (p.Ser2593Ala)
c.1232T>G
n.7863T>G
19g.38502672T=CA2335054410RYR1c.7780T= (p.Ser2594=)
c.7777T= (p.Ser2593=)
c.1232T=
n.7863T=
19g.38502673C>ACA405672113RYR1c.7781C>A (p.Ser2594Ter)
c.7778C>A (p.Ser2593Ter)
c.1233C>A
n.7864C>A
19g.38502673C=CA2335054411RYR1c.7781C= (p.Ser2594=)
c.7778C= (p.Ser2593=)
c.1233C=
n.7864C=
19g.38502673C>GCA405672116RYR1c.7781C>G (p.Ser2594Trp)
c.7778C>G (p.Ser2593Trp)
c.1233C>G
n.7864C>G
19g.38502673C>TCA070231RYR1c.7781C>T (p.Ser2594Leu)
c.7778C>T (p.Ser2593Leu)
c.1233C>T
n.7864C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38502674G>ACA507243893RYR1c.7782G>A (p.Ser2594=)
c.7779G>A (p.Ser2593=)
c.1234G>A
n.7865G>A
 ClinVar dbSNP gnomAD v4
19g.38502674G>CCA070232RYR1c.7782G>C (p.Ser2594=)
c.7779G>C (p.Ser2593=)
c.1234G>C
n.7865G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502674G=CA2335054412RYR1c.7782G= (p.Ser2594=)
c.7779G= (p.Ser2593=)
c.1234G=
n.7865G=
19g.38502674G>TCA507243894RYR1c.7782G>T (p.Ser2594=)
c.7779G>T (p.Ser2593=)
c.1234G>T
n.7865G>T
 gnomAD v4
19g.38502675C>ACA405672122RYR1c.7783C>A (p.Leu2595Ile)
c.7780C>A (p.Leu2594Ile)
c.1235C>A
n.7866C>A
19g.38502675C=CA2335054413RYR1c.7783C= (p.Leu2595=)
c.7780C= (p.Leu2594=)
c.1235C=
n.7866C=
19g.38502675C>GCA405672125RYR1c.7783C>G (p.Leu2595Val)
c.7780C>G (p.Leu2594Val)
c.1235C>G
n.7866C>G
19g.38502675C>TCA405672126RYR1c.7783C>T (p.Leu2595Phe)
c.7780C>T (p.Leu2594Phe)
c.1235C>T
n.7866C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502675_38502683delinsCTCACCAAGCA2335054414RYR1c.7783_7791delinsCTCACCAAG (p.Leu2595=)
c.7780_7788delinsCTCACCAAG (p.Leu2594=)
c.1235_1243delinsCTCACCAAG
n.7866_7874delinsCTCACCAAG
19g.38502676T>ACA405672129RYR1c.7784T>A (p.Leu2595His)
c.7781T>A (p.Leu2594His)
c.1236T>A
n.7867T>A
 gnomAD v4
19g.38502676T>CCA405672132RYR1c.7784T>C (p.Leu2595Pro)
c.7781T>C (p.Leu2594Pro)
c.1236T>C
n.7867T>C
 gnomAD v4
19g.38502676T>GCA405672131RYR1c.7784T>G (p.Leu2595Arg)
c.7781T>G (p.Leu2594Arg)
c.1236T>G
n.7867T>G
19g.38502676_38502683delCA915952998RYR1c.7784_7791del (p.Leu2595ArgfsTer4)
c.7781_7788del (p.Leu2594ArgfsTer4)
c.1236_1243del
n.7867_7874del
 ClinVar dbSNP gnomAD v4
19g.38502677C>ACA507243897RYR1c.7785C>A (p.Leu2595=)
c.7782C>A (p.Leu2594=)
c.1237C>A
n.7868C>A
19g.38502677C=CA2335054415RYR1c.7785C= (p.Leu2595=)
c.7782C= (p.Leu2594=)
c.1237C=
n.7868C=
19g.38502677C>GCA507243900RYR1c.7785C>G (p.Leu2595=)
c.7782C>G (p.Leu2594=)
c.1237C>G
n.7868C>G
19g.38502677C>TCA070237RYR1c.7785C>T (p.Leu2595=)
c.7782C>T (p.Leu2594=)
c.1237C>T
n.7868C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502678A>CCA405672147RYR1c.7786A>C (p.Thr2596Pro)
c.7783A>C (p.Thr2595Pro)
c.1238A>C
n.7869A>C
19g.38502678A>GCA405672149RYR1c.7786A>G (p.Thr2596Ala)
c.7783A>G (p.Thr2595Ala)
c.1238A>G
n.7869A>G
 gnomAD v4
19g.38502678A>TCA405672150RYR1c.7786A>T (p.Thr2596Ser)
c.7783A>T (p.Thr2595Ser)
c.1238A>T
n.7869A>T
19g.38502679C>ACA405672156RYR1c.7787C>A (p.Thr2596Asn)
c.7784C>A (p.Thr2595Asn)
c.1239C>A
n.7870C>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38502679C=CA2335054416RYR1c.7787C= (p.Thr2596=)
c.7784C= (p.Thr2595=)
c.1239C=
n.7870C=
19g.38502679C>GCA070243RYR1c.7787C>G (p.Thr2596Ser)
c.7784C>G (p.Thr2595Ser)
c.1239C>G
n.7870C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502679C>TCA024853RYR1c.7787C>T (p.Thr2596Ile)
c.7784C>T (p.Thr2595Ile)
c.1239C>T
n.7870C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502680C>ACA507243904RYR1c.7788C>A (p.Thr2596=)
c.7785C>A (p.Thr2595=)
c.1240C>A
n.7871C>A
19g.38502680C=CA2335054417RYR1c.7788C= (p.Thr2596=)
c.7785C= (p.Thr2595=)
c.1240C=
n.7871C=
19g.38502680C>GCA507243905RYR1c.7788C>G (p.Thr2596=)
c.7785C>G (p.Thr2595=)
c.1240C>G
n.7871C>G
 ClinVar dbSNP
19g.38502680C>TCA070258RYR1c.7788C>T (p.Thr2596=)
c.7785C>T (p.Thr2595=)
c.1240C>T
n.7871C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38502681A=CA2335054418RYR1c.7789A= (p.Lys2597=)
c.7786A= (p.Lys2596=)
c.1241A=
n.7872A=
19g.38502681A>CCA405672159RYR1c.7789A>C (p.Lys2597Gln)
c.7786A>C (p.Lys2596Gln)
c.1241A>C
n.7872A>C
 gnomAD v4
19g.38502681A>GCA308112251RYR1c.7789A>G (p.Lys2597Glu)
c.7786A>G (p.Lys2596Glu)
c.1241A>G
n.7872A>G
 dbSNP gnomAD v4
19g.38502681A>TCA405672166RYR1c.7789A>T (p.Lys2597Ter)
c.7786A>T (p.Lys2596Ter)
c.1241A>T
n.7872A>T
19g.38502682A>CCA405672169RYR1c.7790A>C (p.Lys2597Thr)
c.7787A>C (p.Lys2596Thr)
c.1242A>C
n.7873A>C
19g.38502682A>GCA405672175RYR1c.7790A>G (p.Lys2597Arg)
c.7787A>G (p.Lys2596Arg)
c.1242A>G
n.7873A>G
19g.38502682A>TCA405672176RYR1c.7790A>T (p.Lys2597Met)
c.7787A>T (p.Lys2596Met)
c.1242A>T
n.7873A>T
19g.38502683G>ACA507243909RYR1c.7791G>A (p.Lys2597=)
c.7788G>A (p.Lys2596=)
c.1243G>A
n.7874G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502683G>CCA405672177RYR1c.7791G>C (p.Lys2597Asn)
c.7788G>C (p.Lys2596Asn)
c.1243G>C
n.7874G>C
 gnomAD v4
19g.38502683G=CA2335054419RYR1c.7791G= (p.Lys2597=)
c.7788G= (p.Lys2596=)
c.1243G=
n.7874G=
19g.38502683G>TCA405672178RYR1c.7791G>T (p.Lys2597Asn)
c.7788G>T (p.Lys2596Asn)
c.1243G>T
n.7874G>T
 gnomAD v4
19g.38502684_38502686delCA2584900601RYR1c.7792_7794del (p.Ala2598del)
c.7789_7791del (p.Ala2597del)
c.1244_1246del
n.7875_7877del
 gnomAD v4
19g.38502684G>ACA070269RYR1c.7792G>A (p.Ala2598Thr)
c.7789G>A (p.Ala2597Thr)
c.1244G>A
n.7875G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502684G>CCA405672179RYR1c.7792G>C (p.Ala2598Pro)
c.7789G>C (p.Ala2597Pro)
c.1244G>C
n.7875G>C
19g.38502684G=CA2335054420RYR1c.7792G= (p.Ala2598=)
c.7789G= (p.Ala2597=)
c.1244G=
n.7875G=
19g.38502684G>TCA405672180RYR1c.7792G>T (p.Ala2598Ser)
c.7789G>T (p.Ala2597Ser)
c.1244G>T
n.7875G>T
 gnomAD v4
19g.38502685C>ACA405672181RYR1c.7793C>A (p.Ala2598Glu)
c.7790C>A (p.Ala2597Glu)
c.1245C>A
n.7876C>A
19g.38502685C=CA2335054421RYR1c.7793C= (p.Ala2598=)
c.7790C= (p.Ala2597=)
c.1245C=
n.7876C=
19g.38502685C>GCA308112261RYR1c.7793C>G (p.Ala2598Gly)
c.7790C>G (p.Ala2597Gly)
c.1245C>G
n.7876C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502685C>TCA070276RYR1c.7793C>T (p.Ala2598Val)
c.7790C>T (p.Ala2597Val)
c.1245C>T
n.7876C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38502686G>ACA070280RYR1c.7794G>A (p.Ala2598=)
c.7791G>A (p.Ala2597=)
c.1246G>A
n.7877G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38502686G>CCA507243920RYR1c.7794G>C (p.Ala2598=)
c.7791G>C (p.Ala2597=)
c.1246G>C
n.7877G>C
 ClinVar
19g.38502686G=CA2335054422RYR1c.7794G= (p.Ala2598=)
c.7791G= (p.Ala2597=)
c.1246G=
n.7877G=
19g.38502686G>TCA070285RYR1c.7794G>T (p.Ala2598=)
c.7791G>T (p.Ala2597=)
c.1246G>T
n.7877G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502687C>ACA405672184RYR1c.7795C>A (p.Gln2599Lys)
c.7792C>A (p.Gln2598Lys)
c.1247C>A
n.7878C>A
19g.38502687C>GCA405672187RYR1c.7795C>G (p.Gln2599Glu)
c.7792C>G (p.Gln2598Glu)
c.1247C>G
n.7878C>G
19g.38502687C>TCA405672188RYR1c.7795C>T (p.Gln2599Ter)
c.7792C>T (p.Gln2598Ter)
c.1247C>T
n.7878C>T
 gnomAD v4
19g.38502688A>CCA405672189RYR1c.7796A>C (p.Gln2599Pro)
c.7793A>C (p.Gln2598Pro)
c.1248A>C
n.7879A>C
19g.38502688A>GCA405672190RYR1c.7796A>G (p.Gln2599Arg)
c.7793A>G (p.Gln2598Arg)
c.1248A>G
n.7879A>G
19g.38502688A>TCA405672191RYR1c.7796A>T (p.Gln2599Leu)
c.7793A>T (p.Gln2598Leu)
c.1248A>T
n.7879A>T
19g.38502689G>ACA070290RYR1c.7797G>A (p.Gln2599=)
c.7794G>A (p.Gln2598=)
c.1249G>A
n.7880G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502689G>CCA405672198RYR1c.7797G>C (p.Gln2599His)
c.7794G>C (p.Gln2598His)
c.1249G>C
n.7880G>C
 dbSNP
19g.38502689G=CA2335054423RYR1c.7797G= (p.Gln2599=)
c.7794G= (p.Gln2598=)
c.1249G=
n.7880G=
19g.38502689G>TCA082644RYR1c.7797G>T (p.Gln2599His)
c.7794G>T (p.Gln2598His)
c.1249G>T
n.7880G>T
 gnomAD v4
19g.38502690C>ACA405672202RYR1c.7798C>A (p.Arg2600Ser)
c.7795C>A (p.Arg2599Ser)
c.1250C>A
n.7881C>A
19g.38502690C=CA2335054424RYR1c.7798C= (p.Arg2600=)
c.7795C= (p.Arg2599=)
c.1250C=
n.7881C=
19g.38502690C>GCA405672204RYR1c.7798C>G (p.Arg2600Gly)
c.7795C>G (p.Arg2599Gly)
c.1250C>G
n.7881C>G
 gnomAD v4
19g.38502690C>TCA405672205RYR1c.7798C>T (p.Arg2600Cys)
c.7795C>T (p.Arg2599Cys)
c.1250C>T
n.7881C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502691G>ACA070297RYR1c.7799G>A (p.Arg2600His)
c.7796G>A (p.Arg2599His)
c.1251G>A
n.7882G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502691G>CCA405672207RYR1c.7799G>C (p.Arg2600Pro)
c.7796G>C (p.Arg2599Pro)
c.1251G>C
n.7882G>C
 dbSNP gnomAD v3 gnomAD v4
19g.38502691G=CA2335054425RYR1c.7799G= (p.Arg2600=)
c.7796G= (p.Arg2599=)
c.1251G=
n.7882G=
19g.38502691G>TCA405672206RYR1c.7799G>T (p.Arg2600Leu)
c.7796G>T (p.Arg2599Leu)
c.1251G>T
n.7882G>T
 gnomAD v4
19g.38502692T>ACA507243933RYR1c.7800T>A (p.Arg2600=)
c.7797T>A (p.Arg2599=)
c.1252T>A
n.7883T>A
19g.38502692T>CCA070302RYR1c.7800T>C (p.Arg2600=)
c.7797T>C (p.Arg2599=)
c.1252T>C
n.7883T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502692T>GCA507243931RYR1c.7800T>G (p.Arg2600=)
c.7797T>G (p.Arg2599=)
c.1252T>G
n.7883T>G
19g.38502692T=CA2335054426RYR1c.7800T= (p.Arg2600=)
c.7797T= (p.Arg2599=)
c.1252T=
n.7883T=
19g.38502693G>ACA405672208RYR1c.7801G>A (p.Asp2601Asn)
c.7798G>A (p.Asp2600Asn)
c.1253G>A
n.7884G>A
19g.38502693G>CCA405672210RYR1c.7801G>C (p.Asp2601His)
c.7798G>C (p.Asp2600His)
c.1253G>C
n.7884G>C
19g.38502693G>TCA405672213RYR1c.7801G>T (p.Asp2601Tyr)
c.7798G>T (p.Asp2600Tyr)
c.1253G>T
n.7884G>T
 gnomAD v4
19g.38502694A>CCA405672215RYR1c.7802A>C (p.Asp2601Ala)
c.7799A>C (p.Asp2600Ala)
c.1254A>C
n.7885A>C
 gnomAD v4
19g.38502694A>GCA405672217RYR1c.7802A>G (p.Asp2601Gly)
c.7799A>G (p.Asp2600Gly)
c.1254A>G
n.7885A>G
 gnomAD v4
19g.38502694A>TCA405672225RYR1c.7802A>T (p.Asp2601Val)
c.7799A>T (p.Asp2600Val)
c.1254A>T
n.7885A>T
19g.38502695C>ACA405672227RYR1c.7803C>A (p.Asp2601Glu)
c.7800C>A (p.Asp2600Glu)
c.1255C>A
n.7886C>A
19g.38502695C=CA2335054427RYR1c.7803C= (p.Asp2601=)
c.7800C= (p.Asp2600=)
c.1255C=
n.7886C=
19g.38502695C>GCA405672237RYR1c.7803C>G (p.Asp2601Glu)
c.7800C>G (p.Asp2600Glu)
c.1255C>G
n.7886C>G
19g.38502695C>TCA070303RYR1c.7803C>T (p.Asp2601=)
c.7800C>T (p.Asp2600=)
c.1255C>T
n.7886C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38502696G>ACA070309RYR1c.7804G>A (p.Val2602Ile)
c.7801G>A (p.Val2601Ile)
c.1256G>A
n.7887G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502696G>CCA405672248RYR1c.7804G>C (p.Val2602Leu)
c.7801G>C (p.Val2601Leu)
c.1256G>C
n.7887G>C
 dbSNP gnomAD v4
19g.38502696G=CA2335054428RYR1c.7804G= (p.Val2602=)
c.7801G= (p.Val2601=)
c.1256G=
n.7887G=
19g.38502696G>TCA405672242RYR1c.7804G>T (p.Val2602Phe)
c.7801G>T (p.Val2601Phe)
c.1256G>T
n.7887G>T
 gnomAD v4
19g.38502697T>ACA405672251RYR1c.7805T>A (p.Val2602Asp)
c.7802T>A (p.Val2601Asp)
c.1257T>A
n.7888T>A
 gnomAD v4
19g.38502697T>CCA405672254RYR1c.7805T>C (p.Val2602Ala)
c.7802T>C (p.Val2601Ala)
c.1257T>C
n.7888T>C
19g.38502697T>GCA405672256RYR1c.7805T>G (p.Val2602Gly)
c.7802T>G (p.Val2601Gly)
c.1257T>G
n.7888T>G
19g.38502698C>ACA507243940RYR1c.7806C>A (p.Val2602=)
c.7803C>A (p.Val2601=)
c.1258C>A
n.7889C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502698C=CA2335054429RYR1c.7806C= (p.Val2602=)
c.7803C= (p.Val2601=)
c.1258C=
n.7889C=
19g.38502698C>GCA507243941RYR1c.7806C>G (p.Val2602=)
c.7803C>G (p.Val2601=)
c.1258C>G
n.7889C>G
19g.38502698C>TCA082656RYR1c.7806C>T (p.Val2602=)
c.7803C>T (p.Val2601=)
c.1258C>T
n.7889C>T
 ClinVar dbSNP gnomAD v4
19g.38502699A>CCA405672260RYR1c.7807A>C (p.Ile2603Leu)
c.7804A>C (p.Ile2602Leu)
c.1259A>C
n.7890A>C
19g.38502699A>GCA405672266RYR1c.7807A>G (p.Ile2603Val)
c.7804A>G (p.Ile2602Val)
c.1259A>G
n.7890A>G
19g.38502699A>TCA405672269RYR1c.7807A>T (p.Ile2603Phe)
c.7804A>T (p.Ile2602Phe)
c.1259A>T
n.7890A>T
19g.38502700T>ACA405672285RYR1c.7808T>A (p.Ile2603Asn)
c.7805T>A (p.Ile2602Asn)
c.1260T>A
n.7891T>A
19g.38502700T>CCA405672275RYR1c.7808T>C (p.Ile2603Thr)
c.7805T>C (p.Ile2602Thr)
c.1260T>C
n.7891T>C
19g.38502700T>GCA405672278RYR1c.7808T>G (p.Ile2603Ser)
c.7805T>G (p.Ile2602Ser)
c.1260T>G
n.7891T>G
19g.38502701C>ACA507243944RYR1c.7809C>A (p.Ile2603=)
c.7806C>A (p.Ile2602=)
c.1261C>A
n.7892C>A
 dbSNP
19g.38502701C=CA2335054430RYR1c.7809C= (p.Ile2603=)
c.7806C= (p.Ile2602=)
c.1261C=
n.7892C=
19g.38502701C>GCA405672289RYR1c.7809C>G (p.Ile2603Met)
c.7806C>G (p.Ile2602Met)
c.1261C>G
n.7892C>G
 gnomAD v4
19g.38502701C>TCA070316RYR1c.7809C>T (p.Ile2603=)
c.7806C>T (p.Ile2602=)
c.1261C>T
n.7892C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502702G>ACA070323RYR1c.7810G>A (p.Glu2604Lys)
c.7807G>A (p.Glu2603Lys)
c.1262G>A
n.7893G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38502702G>CCA405672304RYR1c.7810G>C (p.Glu2604Gln)
c.7807G>C (p.Glu2603Gln)
c.1262G>C
n.7893G>C
 gnomAD v4
19g.38502702G=CA2335054431RYR1c.7810G= (p.Glu2604=)
c.7807G= (p.Glu2603=)
c.1262G=
n.7893G=
19g.38502702G>TCA405672306RYR1c.7810G>T (p.Glu2604Ter)
c.7807G>T (p.Glu2603Ter)
c.1262G>T
n.7893G>T
 gnomAD v4
19g.38502703A>CCA405672309RYR1c.7811A>C (p.Glu2604Ala)
c.7808A>C (p.Glu2603Ala)
c.1263A>C
n.7894A>C
19g.38502703A>GCA405672315RYR1c.7811A>G (p.Glu2604Gly)
c.7808A>G (p.Glu2603Gly)
c.1263A>G
n.7894A>G
19g.38502703A>TCA405672311RYR1c.7811A>T (p.Glu2604Val)
c.7808A>T (p.Glu2603Val)
c.1263A>T
n.7894A>T
19g.38502704G>ACA507243951RYR1c.7812G>A (p.Glu2604=)
c.7809G>A (p.Glu2603=)
c.1264G>A
n.7895G>A
 ClinVar gnomAD v4
19g.38502704G>CCA405672316RYR1c.7812G>C (p.Glu2604Asp)
c.7809G>C (p.Glu2603Asp)
c.1264G>C
n.7895G>C
 dbSNP gnomAD v2 gnomAD v4
19g.38502704G=CA2335054432RYR1c.7812G= (p.Glu2604=)
c.7809G= (p.Glu2603=)
c.1264G=
n.7895G=
19g.38502704G>TCA405672318RYR1c.7812G>T (p.Glu2604Asp)
c.7809G>T (p.Glu2603Asp)
c.1264G>T
n.7895G>T
 gnomAD v4
19g.38502705G>ACA070324RYR1c.7813G>A (p.Asp2605Asn)
c.7810G>A (p.Asp2604Asn)
c.1265G>A
n.7896G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502705G>CCA405672943RYR1c.7813G>C (p.Asp2605His)
c.7810G>C (p.Asp2604His)
c.1265G>C
n.7896G>C
19g.38502705G=CA2335054433RYR1c.7813G= (p.Asp2605=)
c.7810G= (p.Asp2604=)
c.1265G=
n.7896G=
19g.38502705G>TCA405672944RYR1c.7813G>T (p.Asp2605Tyr)
c.7810G>T (p.Asp2604Tyr)
c.1265G>T
n.7896G>T
 dbSNP gnomAD v4
19g.38502706A=CA2335054434RYR1c.7814A= (p.Asp2605=)
c.7811A= (p.Asp2604=)
c.1266A=
n.7897A=
19g.38502706A>CCA405672945RYR1c.7814A>C (p.Asp2605Ala)
c.7811A>C (p.Asp2604Ala)
c.1266A>C
n.7897A>C
19g.38502706A>GCA405672946RYR1c.7814A>G (p.Asp2605Gly)
c.7811A>G (p.Asp2604Gly)
c.1266A>G
n.7897A>G
 dbSNP gnomAD v2 gnomAD v4
19g.38502706A>TCA405672949RYR1c.7814A>T (p.Asp2605Val)
c.7811A>T (p.Asp2604Val)
c.1266A>T
n.7897A>T
19g.38502707C>ACA405672951RYR1c.7815C>A (p.Asp2605Glu)
c.7812C>A (p.Asp2604Glu)
c.1267C>A
n.7898C>A
19g.38502707C=CA2335054435RYR1c.7815C= (p.Asp2605=)
c.7812C= (p.Asp2604=)
c.1267C=
n.7898C=
19g.38502707C>GCA070329RYR1c.7815C>G (p.Asp2605Glu)
c.7812C>G (p.Asp2604Glu)
c.1267C>G
n.7898C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502707C>TCA070335RYR1c.7815C>T (p.Asp2605=)
c.7812C>T (p.Asp2604=)
c.1267C>T
n.7898C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502708T>ACA070340RYR1c.7816T>A (p.Cys2606Ser)
c.7813T>A (p.Cys2605Ser)
c.1268T>A
n.7899T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502708T>CCA405672957RYR1c.7816T>C (p.Cys2606Arg)
c.7813T>C (p.Cys2605Arg)
c.1268T>C
n.7899T>C
19g.38502708T>GCA405672956RYR1c.7816T>G (p.Cys2606Gly)
c.7813T>G (p.Cys2605Gly)
c.1268T>G
n.7899T>G
19g.38502708T=CA2335054436RYR1c.7816T= (p.Cys2606=)
c.7813T= (p.Cys2605=)
c.1268T=
n.7899T=
19g.38502709G>ACA405672958RYR1c.7817G>A (p.Cys2606Tyr)
c.7814G>A (p.Cys2605Tyr)
c.1269G>A
n.7900G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502709G>CCA405672961RYR1c.7817G>C (p.Cys2606Ser)
c.7814G>C (p.Cys2605Ser)
c.1269G>C
n.7900G>C
19g.38502709G=CA2335054437RYR1c.7817G= (p.Cys2606=)
c.7814G= (p.Cys2605=)
c.1269G=
n.7900G=
19g.38502709G>TCA405672959RYR1c.7817G>T (p.Cys2606Phe)
c.7814G>T (p.Cys2605Phe)
c.1269G>T
n.7900G>T
 gnomAD v4
19g.38502710C>ACA405672963RYR1c.7818C>A (p.Cys2606Ter)
c.7815C>A (p.Cys2605Ter)
c.1270C>A
n.7901C>A
19g.38502710C=CA2335054438RYR1c.7818C= (p.Cys2606=)
c.7815C= (p.Cys2605=)
c.1270C=
n.7901C=
19g.38502710C>GCA082666RYR1c.7818C>G (p.Cys2606Trp)
c.7815C>G (p.Cys2605Trp)
c.1270C>G
n.7901C>G
 dbSNP gnomAD v2 gnomAD v4
19g.38502710C>TCA082669RYR1c.7818C>T (p.Cys2606=)
c.7815C>T (p.Cys2605=)
c.1270C>T
n.7901C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502711C>ACA405672967RYR1c.7819C>A (p.Leu2607Ile)
c.7816C>A (p.Leu2606Ile)
c.1271C>A
n.7902C>A
19g.38502711C=CA2335054439RYR1c.7819C= (p.Leu2607=)
c.7816C= (p.Leu2606=)
c.1271C=
n.7902C=
19g.38502711C>GCA405672970RYR1c.7819C>G (p.Leu2607Val)
c.7816C>G (p.Leu2606Val)
c.1271C>G
n.7902C>G
 gnomAD v4
19g.38502711C>TCA070343RYR1c.7819C>T (p.Leu2607Phe)
c.7816C>T (p.Leu2606Phe)
c.1271C>T
n.7902C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502712T>ACA405672973RYR1c.7820T>A (p.Leu2607His)
c.7817T>A (p.Leu2606His)
c.1272T>A
n.7903T>A
19g.38502712T>CCA070351RYR1c.7820T>C (p.Leu2607Pro)
c.7817T>C (p.Leu2606Pro)
c.1272T>C
n.7903T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502712T>GCA405672979RYR1c.7820T>G (p.Leu2607Arg)
c.7817T>G (p.Leu2606Arg)
c.1272T>G
n.7903T>G
19g.38502712T=CA2335054440RYR1c.7820T= (p.Leu2607=)
c.7817T= (p.Leu2606=)
c.1272T=
n.7903T=
19g.38502713C>ACA507353936RYR1c.7821C>A (p.Leu2607=)
c.7818C>A (p.Leu2606=)
c.1273C>A
n.7904C>A
19g.38502713C=CA2335054441RYR1c.7821C= (p.Leu2607=)
c.7818C= (p.Leu2606=)
c.1273C=
n.7904C=
19g.38502713C>GCA507353937RYR1c.7821C>G (p.Leu2607=)
c.7818C>G (p.Leu2606=)
c.1273C>G
n.7904C>G
 gnomAD v4
19g.38502713C>TCA507353938RYR1c.7821C>T (p.Leu2607=)
c.7818C>T (p.Leu2606=)
c.1273C>T
n.7904C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502714A=CA2335054442RYR1c.7822A= (p.Met2608=)
c.7819A= (p.Met2607=)
c.1274A=
n.7905A=
19g.38502714A>CCA405672981RYR1c.7822A>C (p.Met2608Leu)
c.7819A>C (p.Met2607Leu)
c.1274A>C
n.7905A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502714A>GCA405672983RYR1c.7822A>G (p.Met2608Val)
c.7819A>G (p.Met2607Val)
c.1274A>G
n.7905A>G
 dbSNP gnomAD v4
19g.38502714A>TCA405672985RYR1c.7822A>T (p.Met2608Leu)
c.7819A>T (p.Met2607Leu)
c.1274A>T
n.7905A>T
19g.38502714_38502727delCA2584900602RYR1c.7822_7835del (p.Met2608ValfsTer?)
c.7819_7832del (p.Met2607ValfsTer?)
c.1274_1287del
n.7905_7918del
 gnomAD v4
19g.38502715delCA2584900603RYR1c.7823del (p.Met2608SerfsTer?)
c.7820del (p.Met2607SerfsTer?)
c.1275del
n.7906del
 gnomAD v4
19g.38502715T>ACA405672998RYR1c.7823T>A (p.Met2608Lys)
c.7820T>A (p.Met2607Lys)
c.1275T>A
n.7906T>A
19g.38502715T>CCA082674RYR1c.7823T>C (p.Met2608Thr)
c.7820T>C (p.Met2607Thr)
c.1275T>C
n.7906T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502715T>GCA405673006RYR1c.7823T>G (p.Met2608Arg)
c.7820T>G (p.Met2607Arg)
c.1275T>G
n.7906T>G
 ClinVar gnomAD v4
19g.38502715T=CA2335054443RYR1c.7823T= (p.Met2608=)
c.7820T= (p.Met2607=)
c.1275T=
n.7906T=
19g.38502716G>ACA405673028RYR1c.7824G>A (p.Met2608Ile)
c.7821G>A (p.Met2607Ile)
c.1276G>A
n.7907G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502716G>CCA405673011RYR1c.7824G>C (p.Met2608Ile)
c.7821G>C (p.Met2607Ile)
c.1276G>C
n.7907G>C
 dbSNP gnomAD v4
19g.38502716G=CA2335054444RYR1c.7824G= (p.Met2608=)
c.7821G= (p.Met2607=)
c.1276G=
n.7907G=
19g.38502716G>TCA405673009RYR1c.7824G>T (p.Met2608Ile)
c.7821G>T (p.Met2607Ile)
c.1276G>T
n.7907G>T
 gnomAD v4
19g.38502717T>ACA405673029RYR1c.7825T>A (p.Ser2609Thr)
c.7822T>A (p.Ser2608Thr)
c.1277T>A
n.7908T>A
19g.38502717T>CCA405673030RYR1c.7825T>C (p.Ser2609Pro)
c.7822T>C (p.Ser2608Pro)
c.1277T>C
n.7908T>C
19g.38502717T>GCA405673031RYR1c.7825T>G (p.Ser2609Ala)
c.7822T>G (p.Ser2608Ala)
c.1277T>G
n.7908T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502717T=CA2335054445RYR1c.7825T= (p.Ser2609=)
c.7822T= (p.Ser2608=)
c.1277T=
n.7908T=
19g.38502718C>ACA405673033RYR1c.7826C>A (p.Ser2609Ter)
c.7823C>A (p.Ser2608Ter)
c.1278C>A
n.7909C>A
 gnomAD v3 gnomAD v4
19g.38502718C=CA2335054446RYR1c.7826C= (p.Ser2609=)
c.7823C= (p.Ser2608=)
c.1278C=
n.7909C=
19g.38502718C>GCA405673034RYR1c.7826C>G (p.Ser2609Trp)
c.7823C>G (p.Ser2608Trp)
c.1278C>G
n.7909C>G
 ClinVar dbSNP
19g.38502718C>TCA070356RYR1c.7826C>T (p.Ser2609Leu)
c.7823C>T (p.Ser2608Leu)
c.1278C>T
n.7909C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502719G>ACA308112322RYR1c.7827G>A (p.Ser2609=)
c.7824G>A (p.Ser2608=)
c.1279G>A
n.7910G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502719G>CCA507353939RYR1c.7827G>C (p.Ser2609=)
c.7824G>C (p.Ser2608=)
c.1279G>C
n.7910G>C
19g.38502719G=CA2335054447RYR1c.7827G= (p.Ser2609=)
c.7824G= (p.Ser2608=)
c.1279G=
n.7910G=
19g.38502719G>TCA507353940RYR1c.7827G>T (p.Ser2609=)
c.7824G>T (p.Ser2608=)
c.1279G>T
n.7910G>T
 gnomAD v4
19g.38502720C>ACA405673041RYR1c.7828C>A (p.Leu2610Ile)
c.7825C>A (p.Leu2609Ile)
c.1280C>A
n.7911C>A
19g.38502720C=CA2335054448RYR1c.7828C= (p.Leu2610=)
c.7825C= (p.Leu2609=)
c.1280C=
n.7911C=
19g.38502720C>GCA405673046RYR1c.7828C>G (p.Leu2610Val)
c.7825C>G (p.Leu2609Val)
c.1280C>G
n.7911C>G
 gnomAD v4
19g.38502720C>TCA070357RYR1c.7828C>T (p.Leu2610Phe)
c.7825C>T (p.Leu2609Phe)
c.1280C>T
n.7911C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502721T>ACA405673066RYR1c.7829T>A (p.Leu2610His)
c.7826T>A (p.Leu2609His)
c.1281T>A
n.7912T>A
19g.38502721T>CCA405673069RYR1c.7829T>C (p.Leu2610Pro)
c.7826T>C (p.Leu2609Pro)
c.1281T>C
n.7912T>C
19g.38502721T>GCA405673073RYR1c.7829T>G (p.Leu2610Arg)
c.7826T>G (p.Leu2609Arg)
c.1281T>G
n.7912T>G
 gnomAD v4
19g.38502722C>ACA507353941RYR1c.7830C>A (p.Leu2610=)
c.7827C>A (p.Leu2609=)
c.1282C>A
n.7913C>A
19g.38502722C=CA2335054449RYR1c.7830C= (p.Leu2610=)
c.7827C= (p.Leu2609=)
c.1282C=
n.7913C=
19g.38502722C>GCA507353942RYR1c.7830C>G (p.Leu2610=)
c.7827C>G (p.Leu2609=)
c.1282C>G
n.7913C>G
 ClinVar dbSNP
19g.38502722C>TCA070361RYR1c.7830C>T (p.Leu2610=)
c.7827C>T (p.Leu2609=)
c.1282C>T
n.7913C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502723T>ACA405673085RYR1c.7831T>A (p.Cys2611Ser)
c.7828T>A (p.Cys2610Ser)
c.1283T>A
n.7914T>A
19g.38502723T>CCA405673079RYR1c.7831T>C (p.Cys2611Arg)
c.7828T>C (p.Cys2610Arg)
c.1283T>C
n.7914T>C
19g.38502723T>GCA405673081RYR1c.7831T>G (p.Cys2611Gly)
c.7828T>G (p.Cys2610Gly)
c.1283T>G
n.7914T>G
19g.38502724G>ACA070367RYR1c.7832G>A (p.Cys2611Tyr)
c.7829G>A (p.Cys2610Tyr)
c.1284G>A
n.7915G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502724G>CCA405673106RYR1c.7832G>C (p.Cys2611Ser)
c.7829G>C (p.Cys2610Ser)
c.1284G>C
n.7915G>C
 gnomAD v4
19g.38502724G=CA2335054450RYR1c.7832G= (p.Cys2611=)
c.7829G= (p.Cys2610=)
c.1284G=
n.7915G=
19g.38502724G>TCA405673108RYR1c.7832G>T (p.Cys2611Phe)
c.7829G>T (p.Cys2610Phe)
c.1284G>T
n.7915G>T
 gnomAD v4
19g.38502725C>ACA405673111RYR1c.7833C>A (p.Cys2611Ter)
c.7830C>A (p.Cys2610Ter)
c.1285C>A
n.7916C>A
19g.38502725C=CA2335054451RYR1c.7833C= (p.Cys2611=)
c.7830C= (p.Cys2610=)
c.1285C=
n.7916C=
19g.38502725C>GCA405673114RYR1c.7833C>G (p.Cys2611Trp)
c.7830C>G (p.Cys2610Trp)
c.1285C>G
n.7916C>G
19g.38502725C>TCA082680RYR1c.7833C>T (p.Cys2611=)
c.7830C>T (p.Cys2610=)
c.1285C>T
n.7916C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38502726A=CA2335054453RYR1c.7834A= (p.Arg2612=)
c.7831A= (p.Arg2611=)
c.1286A=
n.7917A=
19g.38502726A>CCA507353950RYR1c.7834A>C (p.Arg2612=)
c.7831A>C (p.Arg2611=)
c.1286A>C
n.7917A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502726A>GCA405673117RYR1c.7834A>G (p.Arg2612Gly)
c.7831A>G (p.Arg2611Gly)
c.1286A>G
n.7917A>G
19g.38502726A>TCA405673120RYR1c.7834A>T (p.Arg2612Trp)
c.7831A>T (p.Arg2611Trp)
c.1286A>T
n.7917A>T
19g.38502726_38502747delCA2576771078RYR1c.7834_7835+20del
c.7831_7832+20del
c.1286_1287+20del
n.7917_7918+20del
 gnomAD v4
19g.38502726_38502748delinsAGGTGGAGCGGGGCAGGCTTCAGCA2335054452RYR1c.7834_7835+21delinsAGGTGGAGCGGGGCAGGCTTCAG
c.7831_7832+21delinsAGGTGGAGCGGGGCAGGCTTCAG
c.1286_1287+21delinsAGGTGGAGCGGGGCAGGCTTCAG
n.7917_7918+21delinsAGGTGGAGCGGGGCAGGCTTCAG
19g.38502727G>ACA070560RYR1c.7835G>A (p.Arg2612Lys)
c.7832G>A (p.Arg2611Lys)
c.1287G>A
n.7918G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502727G>CCA405673125RYR1c.7835G>C (p.Arg2612Thr)
c.7832G>C (p.Arg2611Thr)
c.1287G>C
n.7918G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502727G=CA2335054454RYR1c.7835G= (p.Arg2612=)
c.7832G= (p.Arg2611=)
c.1287G=
n.7918G=
19g.38502727G>TCA405673133RYR1c.7835G>T (p.Arg2612Met)
c.7832G>T (p.Arg2611Met)
c.1287G>T
n.7918G>T
19g.38502731_38502732insGGCGGGGCAGGCTTCAGGGTGGCA1139666423RYR1c.7835+4_7835+5insGGCGGGGCAGGCTTCAGGGTGG
c.7832+4_7832+5insGGCGGGGCAGGCTTCAGGGTGG
c.1287+4_1287+5insGGCGGGGCAGGCTTCAGGGTGG
n.7918+4_7918+5insGGCGGGGCAGGCTTCAGGGTGG
 ClinVar dbSNP
19g.38502732_38502753dupCA2523901509RYR1c.7835+5_7835+26dup
c.7832+5_7832+26dup
c.1287+5_1287+26dup
n.7918+5_7918+26dup
 ClinVar dbSNP gnomAD v4
19g.38502732_38502753delCA9415818RYR1c.7835+5_7835+26del
c.7832+5_7832+26del
c.1287+5_1287+26del
n.7918+5_7918+26del
 dbSNP ExAC
19g.38502728G>ACA16607795RYR1c.7835+1G>A (n.7835+1G>A)
c.7832+1G>A (n.7832+1G>A)
c.1287+1G>A
n.7918+1G>A
 ClinVar dbSNP gnomAD v4
19g.38502728G>CCA405673138RYR1c.7835+1G>C (n.7835+1G>C)
c.7832+1G>C (n.7832+1G>C)
c.1287+1G>C
n.7918+1G>C
 gnomAD v4
19g.38502728G=CA2335054455RYR1c.7835+1G= (n.7835+1G=)
c.7832+1G= (n.7832+1G=)
c.1287+1G=
n.7918+1G=
19g.38502728G>TCA405673142RYR1c.7835+1G>T (n.7835+1G>T)
c.7832+1G>T (n.7832+1G>T)
c.1287+1G>T
n.7918+1G>T
 dbSNP gnomAD v4
19g.38502729T>ACA405673147RYR1c.7835+2T>A (n.7835+2T>A)
c.7832+2T>A (n.7832+2T>A)
c.1287+2T>A
n.7918+2T>A
 gnomAD v4
19g.38502729T>CCA405673150RYR1c.7835+2T>C (n.7835+2T>C)
c.7832+2T>C (n.7832+2T>C)
c.1287+2T>C
n.7918+2T>C
 dbSNP
19g.38502729T>GCA405673152RYR1c.7835+2T>G (n.7835+2T>G)
c.7832+2T>G (n.7832+2T>G)
c.1287+2T>G
n.7918+2T>G
 ClinVar dbSNP gnomAD v4
19g.38502729T=CA2335054456RYR1c.7835+2T= (n.7835+2T=)
c.7832+2T= (n.7832+2T=)
c.1287+2T=
n.7918+2T=
19g.38502729_38502734delinsTGGAGCCA2335054458RYR1c.7835+2_7835+7delinsTGGAGC (n.7835+2_7835+7delinsTGGAGC)
c.7832+2_7832+7delinsTGGAGC (n.7832+2_7832+7delinsTGGAGC)
c.1287+2_1287+7delinsTGGAGC
n.7918+2_7918+7delinsTGGAGC
19g.38502729_38502769delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCACA2335054457RYR1c.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA (n.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA)
c.7832+2_7832+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA (n.7832+2_7832+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA)
c.1287+2_1287+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA
n.7918+2_7918+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA
19g.38502730G>ACA995717297RYR1c.7835+3G>A (n.7835+3G>A)
c.7832+3G>A (n.7832+3G>A)
c.1287+3G>A
n.7918+3G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502730G=CA2335054460RYR1c.7835+3G= (n.7835+3G=)
c.7832+3G= (n.7832+3G=)
c.1287+3G=
n.7918+3G=
19g.38502730G>TCA308112361RYR1c.7835+3G>T (n.7835+3G>T)
c.7832+3G>T (n.7832+3G>T)
c.1287+3G>T
n.7918+3G>T
 dbSNP gnomAD v4
19g.38502731_38502732insGGCGGCA070443RYR1c.7835+4_7835+5insGGCGG (n.7835+4_7835+5insGGCGG)
c.7832+4_7832+5insGGCGG (n.7832+4_7832+5insGGCGG)
c.1287+4_1287+5insGGCGG
n.7918+4_7918+5insGGCGG
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502731dupCA2335054461RYR1c.7835+4dup (n.7835+4dup)
c.7832+4dup (n.7832+4dup)
c.1287+4dup
n.7918+4dup
 dbSNP gnomAD v4
19g.38502732_38502736delCA633066203RYR1c.7835+5_7835+9del (n.7835+5_7835+9del)
c.7832+5_7832+9del (n.7832+5_7832+9del)
c.1287+5_1287+9del
n.7918+5_7918+9del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502730_38502746dupCA920105547RYR1c.7835+3_7835+19dup (n.7835+3_7835+19dup)
c.7832+3_7832+19dup (n.7832+3_7832+19dup)
c.1287+3_1287+19dup
n.7918+3_7918+19dup
 ClinVar dbSNP gnomAD v4
19g.38502730_38502747delinsGGAGCGGGGCAGGCTTCACA2335054459RYR1c.7835+3_7835+20delinsGGAGCGGGGCAGGCTTCA (n.7835+3_7835+20delinsGGAGCGGGGCAGGCTTCA)
c.7832+3_7832+20delinsGGAGCGGGGCAGGCTTCA (n.7832+3_7832+20delinsGGAGCGGGGCAGGCTTCA)
c.1287+3_1287+20delinsGGAGCGGGGCAGGCTTCA
n.7918+3_7918+20delinsGGAGCGGGGCAGGCTTCA
19g.38502732_38502771delCA633066204RYR1c.7835+5_7835+44del (n.7835+5_7835+44del)
c.7832+5_7832+44del (n.7832+5_7832+44del)
c.1287+5_1287+44del
n.7918+5_7918+44del
 dbSNP gnomAD v2 gnomAD v4
19g.38502731G>ACA9415821RYR1c.7835+4G>A (n.7835+4G>A)
c.7832+4G>A (n.7832+4G>A)
c.1287+4G>A
n.7918+4G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502731G=CA2335054464RYR1c.7835+4G= (n.7835+4G=)
c.7832+4G= (n.7832+4G=)
c.1287+4G=
n.7918+4G=
19g.38502731G>TCA2584900605RYR1c.7835+4G>T (n.7835+4G>T)
c.7832+4G>T (n.7832+4G>T)
c.1287+4G>T
n.7918+4G>T
 gnomAD v4
19g.38502731_38502732delinsAGCA2499225470RYR1c.7835+4_7835+5delinsAG (n.7835+4_7835+5delinsAG)
c.7832+4_7832+5delinsAG (n.7832+4_7832+5delinsAG)
c.1287+4_1287+5delinsAG
n.7918+4_7918+5delinsAG
 ClinVar dbSNP
19g.38502731_38502734delinsGAGCCA2335054463RYR1c.7835+4_7835+7delinsGAGC (n.7835+4_7835+7delinsGAGC)
c.7832+4_7832+7delinsGAGC (n.7832+4_7832+7delinsGAGC)
c.1287+4_1287+7delinsGAGC
n.7918+4_7918+7delinsGAGC
19g.38502732_38502748dupCA2584900604RYR1c.7835+5_7835+21dup (n.7835+5_7835+21dup)
c.7832+5_7832+21dup (n.7832+5_7832+21dup)
c.1287+5_1287+21dup
n.7918+5_7918+21dup
 ClinVar gnomAD v4
19g.38502732_38502748delCA2335054462RYR1c.7835+5_7835+21del (n.7835+5_7835+21del)
c.7832+5_7832+21del (n.7832+5_7832+21del)
c.1287+5_1287+21del
n.7918+5_7918+21del
 dbSNP
19g.38502731_38502732insGGCGGGGCCA9415820RYR1c.7835+4_7835+5insGGCGGGGC (n.7835+4_7835+5insGGCGGGGC)
c.7832+4_7832+5insGGCGGGGC (n.7832+4_7832+5insGGCGGGGC)
c.1287+4_1287+5insGGCGGGGC
n.7918+4_7918+5insGGCGGGGC
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502732A=CA2335054467RYR1c.7835+5A= (n.7835+5A=)
c.7832+5A= (n.7832+5A=)
c.1287+5A=
n.7918+5A=
19g.38502732A>CCA2581382505RYR1c.7835+5A>C (n.7835+5A>C)
c.7832+5A>C (n.7832+5A>C)
c.1287+5A>C
n.7918+5A>C
19g.38502732A>GCA024854RYR1c.7835+5A>G (n.7835+5A>G)
c.7832+5A>G (n.7832+5A>G)
c.1287+5A>G
n.7918+5A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502732A>TCA2581382506RYR1c.7835+5A>T (n.7835+5A>T)
c.7832+5A>T (n.7832+5A>T)
c.1287+5A>T
n.7918+5A>T
 gnomAD v4
19g.38502732_38502734delCA9415819RYR1c.7835+5_7835+7del (n.7835+5_7835+7del)
c.7832+5_7832+7del (n.7832+5_7832+7del)
c.1287+5_1287+7del
n.7918+5_7918+7del
 dbSNP ExAC
19g.38502732_38502763delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCACA2335054466RYR1c.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA (n.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA)
c.7832+5_7832+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA (n.7832+5_7832+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA)
c.1287+5_1287+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA
n.7918+5_7918+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA
19g.38502732_38502766delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGCA2335054465RYR1c.7835+5_7835+39delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGG (n.7835+5_7835+39delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGG)
c.7832+5_7832+39delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGG (n.7832+5_7832+39delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGG)
c.1287+5_1287+39delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGG
n.7918+5_7918+39delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGG
19g.38502733G>ACA2584900608RYR1c.7835+6G>A (n.7835+6G>A)
c.7832+6G>A (n.7832+6G>A)
c.1287+6G>A
n.7918+6G>A
 gnomAD v4
19g.38502733G>CCA2584900609RYR1c.7835+6G>C (n.7835+6G>C)
c.7832+6G>C (n.7832+6G>C)
c.1287+6G>C
n.7918+6G>C
 gnomAD v4
19g.38502733G>TCA2584900610RYR1c.7835+6G>T (n.7835+6G>T)
c.7832+6G>T (n.7832+6G>T)
c.1287+6G>T
n.7918+6G>T
 gnomAD v4
19g.38502733_38502734insGCTTCGGGGCA2584900607RYR1c.7835+6_7835+7insGCTTCGGGG (n.7835+6_7835+7insGCTTCGGGG)
c.7832+6_7832+7insGCTTCGGGG (n.7832+6_7832+7insGCTTCGGGG)
c.1287+6_1287+7insGCTTCGGGG
n.7918+6_7918+7insGCTTCGGGG
 gnomAD v4
19g.38502733_38502734insGCTTTGGGGCA2584900606RYR1c.7835+6_7835+7insGCTTTGGGG (n.7835+6_7835+7insGCTTTGGGG)
c.7832+6_7832+7insGCTTTGGGG (n.7832+6_7832+7insGCTTTGGGG)
c.1287+6_1287+7insGCTTTGGGG
n.7918+6_7918+7insGCTTTGGGG
 gnomAD v4
19g.38502733_38502734insGCTTCAGGGTGGGGCA9415822RYR1c.7835+6_7835+7insGCTTCAGGGTGGGG (n.7835+6_7835+7insGCTTCAGGGTGGGG)
c.7832+6_7832+7insGCTTCAGGGTGGGG (n.7832+6_7832+7insGCTTCAGGGTGGGG)
c.1287+6_1287+7insGCTTCAGGGTGGGG
n.7918+6_7918+7insGCTTCAGGGTGGGG
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502733_38502763delinsAGCCA658658809RYR1c.7835+6_7835+36delinsAGC (n.7835+6_7835+36delinsAGC)
c.7832+6_7832+36delinsAGC (n.7832+6_7832+36delinsAGC)
c.1287+6_1287+36delinsAGC
n.7918+6_7918+36delinsAGC
 ClinVar dbSNP
19g.38502735_38502768delCA882053907RYR1c.7835+8_7835+41del (n.7835+8_7835+41del)
c.7832+8_7832+41del (n.7832+8_7832+41del)
c.1287+8_1287+41del
n.7918+8_7918+41del
 dbSNP
19g.38502734delCA2584900611RYR1c.7835+7del (n.7835+7del)
c.7832+7del (n.7832+7del)
c.1287+7del
n.7918+7del
 gnomAD v4
19g.38502734C>ACA2581382507RYR1c.7835+7C>A (n.7835+7C>A)
c.7832+7C>A (n.7832+7C>A)
c.1287+7C>A
n.7918+7C>A
 ClinVar gnomAD v4
19g.38502734C=CA2335054468RYR1c.7835+7C= (n.7835+7C=)
c.7832+7C= (n.7832+7C=)
c.1287+7C=
n.7918+7C=
19g.38502734C>GCA070549RYR1c.7835+7C>G (n.7835+7C>G)
c.7832+7C>G (n.7832+7C>G)
c.1287+7C>G
n.7918+7C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502734C>TCA024857RYR1c.7835+7C>T (n.7835+7C>T)
c.7832+7C>T (n.7832+7C>T)
c.1287+7C>T
n.7918+7C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502734_38502743delCA2584900612RYR1c.7835+7_7835+16del (n.7835+7_7835+16del)
c.7832+7_7832+16del (n.7832+7_7832+16del)
c.1287+7_1287+16del
n.7918+7_7918+16del
 gnomAD v4
19g.38502734_38502751delinsCGGGGCAGGCTTCAGGGTCA2335054470RYR1c.7835+7_7835+24delinsCGGGGCAGGCTTCAGGGT (n.7835+7_7835+24delinsCGGGGCAGGCTTCAGGGT)
c.7832+7_7832+24delinsCGGGGCAGGCTTCAGGGT (n.7832+7_7832+24delinsCGGGGCAGGCTTCAGGGT)
c.1287+7_1287+24delinsCGGGGCAGGCTTCAGGGT
n.7918+7_7918+24delinsCGGGGCAGGCTTCAGGGT
19g.38502734_38502763delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCACA2335054471RYR1c.7835+7_7835+36delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA (n.7835+7_7835+36delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA)
c.7832+7_7832+36delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA (n.7832+7_7832+36delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA)
c.1287+7_1287+36delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA
n.7918+7_7918+36delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA
19g.38502734_38502769delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCACA2335054469RYR1c.7835+7_7835+42delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA (n.7835+7_7835+42delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA)
c.7832+7_7832+42delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA (n.7832+7_7832+42delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA)
c.1287+7_1287+42delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA
n.7918+7_7918+42delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA
19g.38502734_38502816delCA9415823RYR1c.7835+7_7836-64del (n.7835+7_7836-64del)
c.7832+7_7833-64del (n.7832+7_7833-64del)
c.1287+7_1288-64del
n.7918+7_7919-64del
 ExAC
19g.38502734_38502735insACA882053909RYR1c.7835+7_7835+8insA (n.7835+7_7835+8insA)
c.7832+7_7832+8insA (n.7832+7_7832+8insA)
c.1287+7_1287+8insA
n.7918+7_7918+8insA
 dbSNP gnomAD v4
19g.38502735G>ACA070555RYR1c.7835+8G>A (n.7835+8G>A)
c.7832+8G>A (n.7832+8G>A)
c.1287+8G>A
n.7918+8G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502735G>CCA2584900614RYR1c.7835+8G>C (n.7835+8G>C)
c.7832+8G>C (n.7832+8G>C)
c.1287+8G>C
n.7918+8G>C
 ClinVar gnomAD v4
19g.38502735G=CA2335054472RYR1c.7835+8G= (n.7835+8G=)
c.7832+8G= (n.7832+8G=)
c.1287+8G=
n.7918+8G=
19g.38502735G>TCA2584900615RYR1c.7835+8G>T (n.7835+8G>T)
c.7832+8G>T (n.7832+8G>T)
c.1287+8G>T
n.7918+8G>T
 gnomAD v4
19g.38502738dupCA2335054473RYR1c.7835+11dup (n.7835+11dup)
c.7832+11dup (n.7832+11dup)
c.1287+11dup
n.7918+11dup
 ClinVar dbSNP
19g.38502738delCA2576771086RYR1c.7835+11del (n.7835+11del)
c.7832+11del (n.7832+11del)
c.1287+11del
n.7918+11del
 gnomAD v4
19g.38502743_38502759dupCA633066206RYR1c.7835+16_7835+32dup (n.7835+16_7835+32dup)
c.7832+16_7832+32dup (n.7832+16_7832+32dup)
c.1287+16_1287+32dup
n.7918+16_7918+32dup
 gnomAD v2 gnomAD v3 gnomAD v4
19g.38502743_38502759delCA633066207RYR1c.7835+16_7835+32del (n.7835+16_7835+32del)
c.7832+16_7832+32del (n.7832+16_7832+32del)
c.1287+16_1287+32del
n.7918+16_7918+32del
 dbSNP gnomAD v2 gnomAD v4
19g.38502743_38502771delCA882053910RYR1c.7835+16_7835+44del (n.7835+16_7835+44del)
c.7832+16_7832+44del (n.7832+16_7832+44del)
c.1287+16_1287+44del
n.7918+16_7918+44del
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502743_38502777delCA633066205RYR1c.7835+16_7835+50del (n.7835+16_7835+50del)
c.7832+16_7832+50del (n.7832+16_7832+50del)
c.1287+16_1287+50del
n.7918+16_7918+50del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502743_38502783delCA2584900613RYR1c.7835+16_7835+56del (n.7835+16_7835+56del)
c.7832+16_7832+56del (n.7832+16_7832+56del)
c.1287+16_1287+56del
n.7918+16_7918+56del
 gnomAD v4
19g.38502736G>ACA9415825RYR1c.7835+9G>A (n.7835+9G>A)
c.7832+9G>A (n.7832+9G>A)
c.1287+9G>A
n.7918+9G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502736G>CCA2335054475RYR1c.7835+9G>C (n.7835+9G>C)
c.7832+9G>C (n.7832+9G>C)
c.1287+9G>C
n.7918+9G>C
 ClinVar dbSNP
19g.38502736G=CA2335054474RYR1c.7835+9G= (n.7835+9G=)
c.7832+9G= (n.7832+9G=)
c.1287+9G=
n.7918+9G=
19g.38502736G>TCA882053915RYR1c.7835+9G>T (n.7835+9G>T)
c.7832+9G>T (n.7832+9G>T)
c.1287+9G>T
n.7918+9G>T
 dbSNP
19g.38502738_38502742dupCA920105553RYR1c.7835+11_7835+15dup (n.7835+11_7835+15dup)
c.7832+11_7832+15dup (n.7832+11_7832+15dup)
c.1287+11_1287+15dup
n.7918+11_7918+15dup
 dbSNP
19g.38502739_38502754delCA2584900616RYR1c.7835+12_7835+27del (n.7835+12_7835+27del)
c.7832+12_7832+27del (n.7832+12_7832+27del)
c.1287+12_1287+27del
n.7918+12_7918+27del
 gnomAD v4
19g.38502737G>ACA070369RYR1c.7835+10G>A (n.7835+10G>A)
c.7832+10G>A (n.7832+10G>A)
c.1287+10G>A
n.7918+10G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502737G>CCA2584900617RYR1c.7835+10G>C (n.7835+10G>C)
c.7832+10G>C (n.7832+10G>C)
c.1287+10G>C
n.7918+10G>C
 gnomAD v4
19g.38502737G=CA2335054476RYR1c.7835+10G= (n.7835+10G=)
c.7832+10G= (n.7832+10G=)
c.1287+10G=
n.7918+10G=
19g.38502737G>TCA2576771087RYR1c.7835+10G>T (n.7835+10G>T)
c.7832+10G>T (n.7832+10G>T)
c.1287+10G>T
n.7918+10G>T
19g.38502737_38502816delCA9415824RYR1c.7835+10_7836-64del (n.7835+10_7836-64del)
c.7832+10_7833-64del (n.7832+10_7833-64del)
c.1287+10_1288-64del
n.7918+10_7919-64del
 ExAC
19g.38502738G>ACA2576771088RYR1c.7835+11G>A (n.7835+11G>A)
c.7832+11G>A (n.7832+11G>A)
c.1287+11G>A
n.7918+11G>A
 ClinVar gnomAD v4
19g.38502738G>CCA633066208RYR1c.7835+11G>C (n.7835+11G>C)
c.7832+11G>C (n.7832+11G>C)
c.1287+11G>C
n.7918+11G>C
 dbSNP gnomAD v2 gnomAD v4
19g.38502738G=CA2335054477RYR1c.7835+11G= (n.7835+11G=)
c.7832+11G= (n.7832+11G=)
c.1287+11G=
n.7918+11G=
19g.38502738G>TCA2584900618RYR1c.7835+11G>T (n.7835+11G>T)
c.7832+11G>T (n.7832+11G>T)
c.1287+11G>T
n.7918+11G>T
 gnomAD v4
19g.38502738_38502744dupCA2697556556RYR1c.7835+11_7835+17dup (n.7835+11_7835+17dup)
c.7832+11_7832+17dup (n.7832+11_7832+17dup)
c.1287+11_1287+17dup
n.7918+11_7918+17dup
 ClinVar
19g.38502739C>ACA658799198RYR1c.7835+12C>A (n.7835+12C>A)
c.7832+12C>A (n.7832+12C>A)
c.1287+12C>A
n.7918+12C>A
 ClinVar dbSNP gnomAD v4
19g.38502739C=CA2335054478RYR1c.7835+12C= (n.7835+12C=)
c.7832+12C= (n.7832+12C=)
c.1287+12C=
n.7918+12C=
19g.38502739C>GCA070373RYR1c.7835+12C>G (n.7835+12C>G)
c.7832+12C>G (n.7832+12C>G)
c.1287+12C>G
n.7918+12C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502739C>TCA070375RYR1c.7835+12C>T (n.7835+12C>T)
c.7832+12C>T (n.7832+12C>T)
c.1287+12C>T
n.7918+12C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502739_38502751delinsCAGGCTTCAGGGTCA2335054479RYR1c.7835+12_7835+24delinsCAGGCTTCAGGGT (n.7835+12_7835+24delinsCAGGCTTCAGGGT)
c.7832+12_7832+24delinsCAGGCTTCAGGGT (n.7832+12_7832+24delinsCAGGCTTCAGGGT)
c.1287+12_1287+24delinsCAGGCTTCAGGGT
n.7918+12_7918+24delinsCAGGCTTCAGGGT
19g.38502740A=CA2335054481RYR1c.7835+13A= (n.7835+13A=)
c.7832+13A= (n.7832+13A=)
c.1287+13A=
n.7918+13A=
19g.38502740A>CCA633066210RYR1c.7835+13A>C (n.7835+13A>C)
c.7832+13A>C (n.7832+13A>C)
c.1287+13A>C
n.7918+13A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502740A>GCA2543878801RYR1c.7835+13A>G (n.7835+13A>G)
c.7832+13A>G (n.7832+13A>G)
c.1287+13A>G
n.7918+13A>G
 ClinVar dbSNP gnomAD v4
19g.38502740_38502751delCA633066209RYR1c.7835+13_7835+24del (n.7835+13_7835+24del)
c.7832+13_7832+24del (n.7832+13_7832+24del)
c.1287+13_1287+24del
n.7918+13_7918+24del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502740_38502751delinsAGGCTTCAGGGTCA2335054480RYR1c.7835+13_7835+24delinsAGGCTTCAGGGT (n.7835+13_7835+24delinsAGGCTTCAGGGT)
c.7832+13_7832+24delinsAGGCTTCAGGGT (n.7832+13_7832+24delinsAGGCTTCAGGGT)
c.1287+13_1287+24delinsAGGCTTCAGGGT
n.7918+13_7918+24delinsAGGCTTCAGGGT
19g.38502740_38502793delCA2814346922RYR1c.7835+13_7835+66del (n.7835+13_7835+66del)
c.7832+13_7832+66del (n.7832+13_7832+66del)
c.1287+13_1287+66del
n.7918+13_7918+66del
19g.38502741G>ACA2554350659RYR1c.7835+14G>A (n.7835+14G>A)
c.7832+14G>A (n.7832+14G>A)
c.1287+14G>A
n.7918+14G>A
 gnomAD v4
19g.38502741G>CCA070384RYR1c.7835+14G>C (n.7835+14G>C)
c.7832+14G>C (n.7832+14G>C)
c.1287+14G>C
n.7918+14G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502741G=CA2335054482RYR1c.7835+14G= (n.7835+14G=)
c.7832+14G= (n.7832+14G=)
c.1287+14G=
n.7918+14G=
19g.38502741G>TCA882053922RYR1c.7835+14G>T (n.7835+14G>T)
c.7832+14G>T (n.7832+14G>T)
c.1287+14G>T
n.7918+14G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502741_38502742dupCA2584900619RYR1c.7835+14_7835+15dup (n.7835+14_7835+15dup)
c.7832+14_7832+15dup (n.7832+14_7832+15dup)
c.1287+14_1287+15dup
n.7918+14_7918+15dup
 gnomAD v4
19g.38502743_38502753delCA070380RYR1c.7835+16_7835+26del (n.7835+16_7835+26del)
c.7832+16_7832+26del (n.7832+16_7832+26del)
c.1287+16_1287+26del
n.7918+16_7918+26del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502742G>ACA507353958RYR1c.7835+15G>A (n.7835+15G>A)
c.7832+15G>A (n.7832+15G>A)
c.1287+15G>A
n.7918+15G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502742G>CCA882053923RYR1c.7835+15G>C (n.7835+15G>C)
c.7832+15G>C (n.7832+15G>C)
c.1287+15G>C
n.7918+15G>C
 dbSNP
19g.38502742G=CA2335054484RYR1c.7835+15G= (n.7835+15G=)
c.7832+15G= (n.7832+15G=)
c.1287+15G=
n.7918+15G=
19g.38502742_38502745delinsGCTTCA2335054485RYR1c.7835+15_7835+18delinsGCTT (n.7835+15_7835+18delinsGCTT)
c.7832+15_7832+18delinsGCTT (n.7832+15_7832+18delinsGCTT)
c.1287+15_1287+18delinsGCTT
n.7918+15_7918+18delinsGCTT
19g.38502742_38502747delinsGCTTCACA2335054483RYR1c.7835+15_7835+20delinsGCTTCA (n.7835+15_7835+20delinsGCTTCA)
c.7832+15_7832+20delinsGCTTCA (n.7832+15_7832+20delinsGCTTCA)
c.1287+15_1287+20delinsGCTTCA
n.7918+15_7918+20delinsGCTTCA
19g.38502743delCA2580097216RYR1c.7835+16del (n.7835+16del)
c.7832+16del (n.7832+16del)
c.1287+16del
n.7918+16del
 ClinVar
19g.38502743C>ACA882053928RYR1c.7835+16C>A (n.7835+16C>A)
c.7832+16C>A (n.7832+16C>A)
c.1287+16C>A
n.7918+16C>A
 dbSNP gnomAD v4
19g.38502743C=CA2335054486RYR1c.7835+16C= (n.7835+16C=)
c.7832+16C= (n.7832+16C=)
c.1287+16C=
n.7918+16C=
19g.38502743C>TCA070389RYR1c.7835+16C>T (n.7835+16C>T)
c.7832+16C>T (n.7832+16C>T)
c.1287+16C>T
n.7918+16C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502744_38502746delCA2335054487RYR1c.7835+17_7835+19del (n.7835+17_7835+19del)
c.7832+17_7832+19del (n.7832+17_7832+19del)
c.1287+17_1287+19del
n.7918+17_7918+19del
 dbSNP gnomAD v4
19g.38502743_38502747delCA070387RYR1c.7835+16_7835+20del (n.7835+16_7835+20del)
c.7832+16_7832+20del (n.7832+16_7832+20del)
c.1287+16_1287+20del
n.7918+16_7918+20del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502744T>CCA070393RYR1c.7835+17T>C (n.7835+17T>C)
c.7832+17T>C (n.7832+17T>C)
c.1287+17T>C
n.7918+17T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502744T>GCA995717336RYR1c.7835+17T>G (n.7835+17T>G)
c.7832+17T>G (n.7832+17T>G)
c.1287+17T>G
n.7918+17T>G
 ClinVar gnomAD v3 gnomAD v4
19g.38502744T=CA2335054488RYR1c.7835+17T= (n.7835+17T=)
c.7832+17T= (n.7832+17T=)
c.1287+17T=
n.7918+17T=
19g.38502745T>ACA2576771089RYR1c.7835+18T>A (n.7835+18T>A)
c.7832+18T>A (n.7832+18T>A)
c.1287+18T>A
n.7918+18T>A
19g.38502745T>CCA2584900620RYR1c.7835+18T>C (n.7835+18T>C)
c.7832+18T>C (n.7832+18T>C)
c.1287+18T>C
n.7918+18T>C
 dbSNP gnomAD v4
19g.38502745T>GCA882053930RYR1c.7835+18T>G (n.7835+18T>G)
c.7832+18T>G (n.7832+18T>G)
c.1287+18T>G
n.7918+18T>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502745T=CA2335054489RYR1c.7835+18T= (n.7835+18T=)
c.7832+18T= (n.7832+18T=)
c.1287+18T=
n.7918+18T=
19g.38502745_38502769delCA2584900621RYR1c.7835+18_7835+42del (n.7835+18_7835+42del)
c.7832+18_7832+42del (n.7832+18_7832+42del)
c.1287+18_1287+42del
n.7918+18_7918+42del
 gnomAD v4
19g.38502745_38502746insGGCA2335054490RYR1c.7835+18_7835+19insGG (n.7835+18_7835+19insGG)
c.7832+18_7832+19insGG (n.7832+18_7832+19insGG)
c.1287+18_1287+19insGG
n.7918+18_7918+19insGG
 dbSNP
19g.38502746C>ACA2584900622RYR1c.7835+19C>A (n.7835+19C>A)
c.7832+19C>A (n.7832+19C>A)
c.1287+19C>A
n.7918+19C>A
 gnomAD v4
19g.38502746C=CA2335054491RYR1c.7835+19C= (n.7835+19C=)
c.7832+19C= (n.7832+19C=)
c.1287+19C=
n.7918+19C=
19g.38502746C>GCA2584900623RYR1c.7835+19C>G (n.7835+19C>G)
c.7832+19C>G (n.7832+19C>G)
c.1287+19C>G
n.7918+19C>G
 gnomAD v4
19g.38502746C>TCA2576771090RYR1c.7835+19C>T (n.7835+19C>T)
c.7832+19C>T (n.7832+19C>T)
c.1287+19C>T
n.7918+19C>T
 gnomAD v4
19g.38502746_38502747insGGCA995717341RYR1c.7835+19_7835+20insGG (n.7835+19_7835+20insGG)
c.7832+19_7832+20insGG (n.7832+19_7832+20insGG)
c.1287+19_1287+20insGG
n.7918+19_7918+20insGG
 dbSNP gnomAD v3 gnomAD v4
19g.38502747A=CA2335054492RYR1c.7835+20A= (n.7835+20A=)
c.7832+20A= (n.7832+20A=)
c.1287+20A=
n.7918+20A=
19g.38502747A>GCA070400RYR1c.7835+20A>G (n.7835+20A>G)
c.7832+20A>G (n.7832+20A>G)
c.1287+20A>G
n.7918+20A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502747A>TCA2576771091RYR1c.7835+20A>T (n.7835+20A>T)
c.7832+20A>T (n.7832+20A>T)
c.1287+20A>T
n.7918+20A>T
 gnomAD v4
19g.38502747_38502751delCA2584900624RYR1c.7835+20_7835+24del (n.7835+20_7835+24del)
c.7832+20_7832+24del (n.7832+20_7832+24del)
c.1287+20_1287+24del
n.7918+20_7918+24del
 gnomAD v4
19g.38502747_38502751delinsAGGGTCA2335054493RYR1c.7835+20_7835+24delinsAGGGT (n.7835+20_7835+24delinsAGGGT)
c.7832+20_7832+24delinsAGGGT (n.7832+20_7832+24delinsAGGGT)
c.1287+20_1287+24delinsAGGGT
n.7918+20_7918+24delinsAGGGT
19g.38502747_38502752dupCA070395RYR1c.7835+20_7835+25dup (n.7835+20_7835+25dup)
c.7832+20_7832+25dup (n.7832+20_7832+25dup)
c.1287+20_1287+25dup
n.7918+20_7918+25dup
 dbSNP ExAC gnomAD v4
19g.38502748G>ACA070404RYR1c.7835+21G>A (n.7835+21G>A)
c.7832+21G>A (n.7832+21G>A)
c.1287+21G>A
n.7918+21G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502748G>CCA633066212RYR1c.7835+21G>C (n.7835+21G>C)
c.7832+21G>C (n.7832+21G>C)
c.1287+21G>C
n.7918+21G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502748G=CA2335054494RYR1c.7835+21G= (n.7835+21G=)
c.7832+21G= (n.7832+21G=)
c.1287+21G=
n.7918+21G=
19g.38502751_38502754delCA633066211RYR1c.7835+24_7835+27del (n.7835+24_7835+27del)
c.7832+24_7832+27del (n.7832+24_7832+27del)
c.1287+24_1287+27del
n.7918+24_7918+27del
 dbSNP gnomAD v2 gnomAD v4
19g.38502750_38502755dupCA9415826RYR1c.7835+23_7835+28dup (n.7835+23_7835+28dup)
c.7832+23_7832+28dup (n.7832+23_7832+28dup)
c.1287+23_1287+28dup
n.7918+23_7918+28dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502751_38502809delCA995717359RYR1c.7835+24_7836-71del (n.7835+24_7836-71del)
c.7832+24_7833-71del (n.7832+24_7833-71del)
c.1287+24_1288-71del
n.7918+24_7919-71del
 gnomAD v3 gnomAD v4
19g.38502751_38502810delCA995717362RYR1c.7835+24_7836-70del (n.7835+24_7836-70del)
c.7832+24_7833-70del (n.7832+24_7833-70del)
c.1287+24_1288-70del
n.7918+24_7919-70del
 gnomAD v3 gnomAD v4
19g.38502748_38502749insAGTCA995717369RYR1c.7835+21_7835+22insAGT (n.7835+21_7835+22insAGT)
c.7832+21_7832+22insAGT (n.7832+21_7832+22insAGT)
c.1287+21_1287+22insAGT
n.7918+21_7918+22insAGT
 dbSNP gnomAD v3 gnomAD v4
19g.38502748_38502749insCGGGGCAGGCTTCACA995717372RYR1c.7835+21_7835+22insCGGGGCAGGCTTCA (n.7835+21_7835+22insCGGGGCAGGCTTCA)
c.7832+21_7832+22insCGGGGCAGGCTTCA (n.7832+21_7832+22insCGGGGCAGGCTTCA)
c.1287+21_1287+22insCGGGGCAGGCTTCA
n.7918+21_7918+22insCGGGGCAGGCTTCA
 gnomAD v3 gnomAD v4
19g.38502749G>ACA070407RYR1c.7835+22G>A (n.7835+22G>A)
c.7832+22G>A (n.7832+22G>A)
c.1287+22G>A
n.7918+22G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502749G=CA2335054495RYR1c.7835+22G= (n.7835+22G=)
c.7832+22G= (n.7832+22G=)
c.1287+22G=
n.7918+22G=
19g.38502749_38502750insCACA2584900625RYR1c.7835+22_7835+23insCA (n.7835+22_7835+23insCA)
c.7832+22_7832+23insCA (n.7832+22_7832+23insCA)
c.1287+22_1287+23insCA
n.7918+22_7918+23insCA
 gnomAD v4
19g.38502750G>ACA308112503RYR1c.7835+23G>A (n.7835+23G>A)
c.7832+23G>A (n.7832+23G>A)
c.1287+23G>A
n.7918+23G>A
 dbSNP gnomAD v4
19g.38502750G>CCA9415828RYR1c.7835+23G>C (n.7835+23G>C)
c.7832+23G>C (n.7832+23G>C)
c.1287+23G>C
n.7918+23G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502750G=CA2335054496RYR1c.7835+23G= (n.7835+23G=)
c.7832+23G= (n.7832+23G=)
c.1287+23G=
n.7918+23G=
19g.38502750G>TCA633066213RYR1c.7835+23G>T (n.7835+23G>T)
c.7832+23G>T (n.7832+23G>T)
c.1287+23G>T
n.7918+23G>T
 dbSNP gnomAD v2 gnomAD v4
19g.38502750_38502768delinsGTGGGGCAGGGGCAGGGGCCA2335054497RYR1c.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC (n.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC)
c.7832+23_7832+41delinsGTGGGGCAGGGGCAGGGGC (n.7832+23_7832+41delinsGTGGGGCAGGGGCAGGGGC)
c.1287+23_1287+41delinsGTGGGGCAGGGGCAGGGGC
n.7918+23_7918+41delinsGTGGGGCAGGGGCAGGGGC
19g.38502750_38502751insGCCA995717426RYR1c.7835+23_7835+24insGC (n.7835+23_7835+24insGC)
c.7832+23_7832+24insGC (n.7832+23_7832+24insGC)
c.1287+23_1287+24insGC
n.7918+23_7918+24insGC
 dbSNP gnomAD v3 gnomAD v4
19g.38502750_38502751insGGCCA2584900631RYR1c.7835+23_7835+24insGGC (n.7835+23_7835+24insGGC)
c.7832+23_7832+24insGGC (n.7832+23_7832+24insGGC)
c.1287+23_1287+24insGGC
n.7918+23_7918+24insGGC
 gnomAD v4
19g.38502750_38502751insGGGCCA2584900632RYR1c.7835+23_7835+24insGGGC (n.7835+23_7835+24insGGGC)
c.7832+23_7832+24insGGGC (n.7832+23_7832+24insGGGC)
c.1287+23_1287+24insGGGC
n.7918+23_7918+24insGGGC
 gnomAD v4
19g.38502750_38502751insGGGGGCCA2584900629RYR1c.7835+23_7835+24insGGGGGC (n.7835+23_7835+24insGGGGGC)
c.7832+23_7832+24insGGGGGC (n.7832+23_7832+24insGGGGGC)
c.1287+23_1287+24insGGGGGC
n.7918+23_7918+24insGGGGGC
 gnomAD v4
19g.38502750_38502751insGCAGGGGCCA2584900630RYR1c.7835+23_7835+24insGCAGGGGC (n.7835+23_7835+24insGCAGGGGC)
c.7832+23_7832+24insGCAGGGGC (n.7832+23_7832+24insGCAGGGGC)
c.1287+23_1287+24insGCAGGGGC
n.7918+23_7918+24insGCAGGGGC
 gnomAD v4
19g.38502750_38502751insGGCTGGGGCCA995717422RYR1c.7835+23_7835+24insGGCTGGGGC (n.7835+23_7835+24insGGCTGGGGC)
c.7832+23_7832+24insGGCTGGGGC (n.7832+23_7832+24insGGCTGGGGC)
c.1287+23_1287+24insGGCTGGGGC
n.7918+23_7918+24insGGCTGGGGC
 dbSNP gnomAD v3 gnomAD v4
19g.38502750_38502751insGGGCAGGGGCCA2584900628RYR1c.7835+23_7835+24insGGGCAGGGGC (n.7835+23_7835+24insGGGCAGGGGC)
c.7832+23_7832+24insGGGCAGGGGC (n.7832+23_7832+24insGGGCAGGGGC)
c.1287+23_1287+24insGGGCAGGGGC
n.7918+23_7918+24insGGGCAGGGGC
 gnomAD v4
19g.38502750_38502751insGCAGGGGCAGGGGCCA2584900626RYR1c.7835+23_7835+24insGCAGGGGCAGGGGC (n.7835+23_7835+24insGCAGGGGCAGGGGC)
c.7832+23_7832+24insGCAGGGGCAGGGGC (n.7832+23_7832+24insGCAGGGGCAGGGGC)
c.1287+23_1287+24insGCAGGGGCAGGGGC
n.7918+23_7918+24insGCAGGGGCAGGGGC
 gnomAD v4
19g.38502750_38502751insGGGGGCAGGGGCAGGGGCAGGGGCCA633066214RYR1c.7835+23_7835+24insGGGGGCAGGGGCAGGGGCAGGGGC (n.7835+23_7835+24insGGGGGCAGGGGCAGGGGCAGGGGC)
c.7832+23_7832+24insGGGGGCAGGGGCAGGGGCAGGGGC (n.7832+23_7832+24insGGGGGCAGGGGCAGGGGCAGGGGC)
c.1287+23_1287+24insGGGGGCAGGGGCAGGGGCAGGGGC
n.7918+23_7918+24insGGGGGCAGGGGCAGGGGCAGGGGC
 gnomAD v2
19g.38502751delCA995717424RYR1c.7835+24del (n.7835+24del)
c.7832+24del (n.7832+24del)
c.1287+24del
n.7918+24del
 gnomAD v3 gnomAD v4
19g.38502751T>ACA882053941RYR1c.7835+24T>A (n.7835+24T>A)
c.7832+24T>A (n.7832+24T>A)
c.1287+24T>A
n.7918+24T>A
 dbSNP gnomAD v3 gnomAD v4
19g.38502751T>CCA882053940RYR1c.7835+24T>C (n.7835+24T>C)
c.7832+24T>C (n.7832+24T>C)
c.1287+24T>C
n.7918+24T>C
 dbSNP gnomAD v4
19g.38502751T>GCA995717400RYR1c.7835+24T>G (n.7835+24T>G)
c.7832+24T>G (n.7832+24T>G)
c.1287+24T>G
n.7918+24T>G
 dbSNP gnomAD v3 gnomAD v4
19g.38502751T=CA2335054498RYR1c.7835+24T= (n.7835+24T=)
c.7832+24T= (n.7832+24T=)
c.1287+24T=
n.7918+24T=
19g.38502751_38502753delinsTGGCA2335054499RYR1c.7835+24_7835+26delinsTGG (n.7835+24_7835+26delinsTGG)
c.7832+24_7832+26delinsTGG (n.7832+24_7832+26delinsTGG)
c.1287+24_1287+26delinsTGG
n.7918+24_7918+26delinsTGG
19g.38502751_38502755delinsTGGGGCA2335054500RYR1c.7835+24_7835+28delinsTGGGG (n.7835+24_7835+28delinsTGGGG)
c.7832+24_7832+28delinsTGGGG (n.7832+24_7832+28delinsTGGGG)
c.1287+24_1287+28delinsTGGGG
n.7918+24_7918+28delinsTGGGG
19g.38502751_38502756delCA9415829RYR1c.7835+24_7835+29del (n.7835+24_7835+29del)
c.7832+24_7832+29del (n.7832+24_7832+29del)
c.1287+24_1287+29del
n.7918+24_7918+29del
 ExAC
19g.38502751_38502756dupCA995717412RYR1c.7835+24_7835+29dup (n.7835+24_7835+29dup)
c.7832+24_7832+29dup (n.7832+24_7832+29dup)
c.1287+24_1287+29dup
n.7918+24_7918+29dup
 dbSNP gnomAD v3 gnomAD v4
19g.38502751_38502757delinsTGGGGCACA2588340239RYR1c.7835+24_7835+30delinsTGGGGCA (n.7835+24_7835+30delinsTGGGGCA)
c.7832+24_7832+30delinsTGGGGCA (n.7832+24_7832+30delinsTGGGGCA)
c.1287+24_1287+30delinsTGGGGCA
n.7918+24_7918+30delinsTGGGGCA
19g.38502751_38502762dupCA2576771100RYR1c.7835+24_7835+35dup (n.7835+24_7835+35dup)
c.7832+24_7832+35dup (n.7832+24_7832+35dup)
c.1287+24_1287+35dup
n.7918+24_7918+35dup
19g.38502751_38502768delCA920105555RYR1c.7835+24_7835+41del (n.7835+24_7835+41del)
c.7832+24_7832+41del (n.7832+24_7832+41del)
c.1287+24_1287+41del
n.7918+24_7918+41del
 dbSNP
19g.38502751_38502792delCA2584900627RYR1c.7835+24_7835+65del (n.7835+24_7835+65del)
c.7832+24_7832+65del (n.7832+24_7832+65del)
c.1287+24_1287+65del
n.7918+24_7918+65del
 gnomAD v4
19g.38502751_38502793delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCACA2335054502RYR1c.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA (n.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA)
c.7832+24_7832+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA (n.7832+24_7832+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA)
c.1287+24_1287+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA
n.7918+24_7918+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA
19g.38502751_38502816delCA9415827RYR1c.7835+24_7836-64del (n.7835+24_7836-64del)
c.7832+24_7833-64del (n.7832+24_7833-64del)
c.1287+24_1288-64del
n.7918+24_7919-64del
 ExAC gnomAD v3 gnomAD v4
19g.38502751_38502817delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCACA2335054501RYR1c.7835+24_7836-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA (n.7835+24_7836-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA)
c.7832+24_7833-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA (n.7832+24_7833-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA)
c.1287+24_1288-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA
n.7918+24_7919-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA

Number of alleles fetched