Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38502918_38502955delCA082731RYR1c.7874_7911del (p.Arg2625GlnfsTer12)
c.7871_7908del (p.Arg2624GlnfsTer12)
c.1326_1363del
n.7957_7994del
19g.38502924_38502939delinsACA082754RYR1c.7880_7895delinsA (p.Val2627_Ile2632delinsAsp)
c.7877_7892delinsA (p.Val2626_Ile2631delinsAsp)
c.1332_1347delinsA
n.7963_7978delinsA
19g.38502935C>ACA405674000RYR1c.7891C>A (p.Pro2631Thr)
c.7888C>A (p.Pro2630Thr)
c.1343C>A
n.7974C>A
19g.38502935C>GCA405673998RYR1c.7891C>G (p.Pro2631Ala)
c.7888C>G (p.Pro2630Ala)
c.1343C>G
n.7974C>G
19g.38502935C>TCA405673989RYR1c.7891C>T (p.Pro2631Ser)
c.7888C>T (p.Pro2630Ser)
c.1343C>T
n.7974C>T
 gnomAD v4 COSMIC
19g.38502937delCA2584901127RYR1c.7893del (p.Ile2632SerfsTer?)
c.7890del (p.Ile2631SerfsTer?)
c.1345del
n.7976del
 gnomAD v4
19g.38502936C>ACA071003RYR1c.7892C>A (p.Pro2631His)
c.7889C>A (p.Pro2630His)
c.1344C>A
n.7975C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502936C=CA2335054843RYR1c.7892C= (p.Pro2631=)
c.7889C= (p.Pro2630=)
c.1344C=
n.7975C=
19g.38502936C>GCA405674009RYR1c.7892C>G (p.Pro2631Arg)
c.7889C>G (p.Pro2630Arg)
c.1344C>G
n.7975C>G
19g.38502936C>TCA405674012RYR1c.7892C>T (p.Pro2631Leu)
c.7889C>T (p.Pro2630Leu)
c.1344C>T
n.7975C>T
 gnomAD v4 COSMIC
19g.38502937C>ACA507354075RYR1c.7893C>A (p.Pro2631=)
c.7890C>A (p.Pro2630=)
c.1345C>A
n.7976C>A
 gnomAD v4
19g.38502937C=CA2335054844RYR1c.7893C= (p.Pro2631=)
c.7890C= (p.Pro2630=)
c.1345C=
n.7976C=
19g.38502937C>GCA507354076RYR1c.7893C>G (p.Pro2631=)
c.7890C>G (p.Pro2630=)
c.1345C>G
n.7976C>G
19g.38502937C>TCA071008RYR1c.7893C>T (p.Pro2631=)
c.7890C>T (p.Pro2630=)
c.1345C>T
n.7976C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502938A=CA2335054845RYR1c.7894A= (p.Ile2632=)
c.7891A= (p.Ile2631=)
c.1346A=
n.7977A=
19g.38502938A>CCA405674020RYR1c.7894A>C (p.Ile2632Leu)
c.7891A>C (p.Ile2631Leu)
c.1346A>C
n.7977A>C
19g.38502938A>GCA405674022RYR1c.7894A>G (p.Ile2632Val)
c.7891A>G (p.Ile2631Val)
c.1346A>G
n.7977A>G
 dbSNP gnomAD v3 gnomAD v4
19g.38502938A>TCA405674027RYR1c.7894A>T (p.Ile2632Phe)
c.7891A>T (p.Ile2631Phe)
c.1346A>T
n.7977A>T
19g.38502939T>ACA405674041RYR1c.7895T>A (p.Ile2632Asn)
c.7892T>A (p.Ile2631Asn)
c.1347T>A
n.7978T>A
19g.38502939T>CCA405674049RYR1c.7895T>C (p.Ile2632Thr)
c.7892T>C (p.Ile2631Thr)
c.1347T>C
n.7978T>C
19g.38502939T>GCA405674047RYR1c.7895T>G (p.Ile2632Ser)
c.7892T>G (p.Ile2631Ser)
c.1347T>G
n.7978T>G
19g.38502941_38502943delCA2584901128RYR1c.7897_7899del (p.Leu2633del)
c.7894_7896del (p.Leu2632del)
c.1349_1351del
n.7980_7982del
 gnomAD v4
19g.38502940C>ACA507354078RYR1c.7896C>A (p.Ile2632=)
c.7893C>A (p.Ile2631=)
c.1348C>A
n.7979C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502940C=CA2335054846RYR1c.7896C= (p.Ile2632=)
c.7893C= (p.Ile2631=)
c.1348C=
n.7979C=
19g.38502940C>GCA308113557RYR1c.7896C>G (p.Ile2632Met)
c.7893C>G (p.Ile2631Met)
c.1348C>G
n.7979C>G
 dbSNP gnomAD v4
19g.38502940C>TCA082929RYR1c.7896C>T (p.Ile2632=)
c.7893C>T (p.Ile2631=)
c.1348C>T
n.7979C>T
19g.38502941C>ACA405674059RYR1c.7897C>A (p.Leu2633Ile)
c.7894C>A (p.Leu2632Ile)
c.1349C>A
n.7980C>A
 gnomAD v4
19g.38502941C=CA2335054847RYR1c.7897C= (p.Leu2633=)
c.7894C= (p.Leu2632=)
c.1349C=
n.7980C=
19g.38502941C>GCA071011RYR1c.7897C>G (p.Leu2633Val)
c.7894C>G (p.Leu2632Val)
c.1349C>G
n.7980C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502941C>TCA405674061RYR1c.7897C>T (p.Leu2633Phe)
c.7894C>T (p.Leu2632Phe)
c.1349C>T
n.7980C>T
19g.38502942T>ACA405674065RYR1c.7898T>A (p.Leu2633His)
c.7895T>A (p.Leu2632His)
c.1350T>A
n.7981T>A
19g.38502942T>CCA405674069RYR1c.7898T>C (p.Leu2633Pro)
c.7895T>C (p.Leu2632Pro)
c.1350T>C
n.7981T>C
19g.38502942T>GCA405674067RYR1c.7898T>G (p.Leu2633Arg)
c.7895T>G (p.Leu2632Arg)
c.1350T>G
n.7981T>G
19g.38502943C>ACA507354083RYR1c.7899C>A (p.Leu2633=)
c.7896C>A (p.Leu2632=)
c.1351C>A
n.7982C>A
 gnomAD v4
19g.38502943C=CA2335054848RYR1c.7899C= (p.Leu2633=)
c.7896C= (p.Leu2632=)
c.1351C=
n.7982C=
19g.38502943C>GCA507354085RYR1c.7899C>G (p.Leu2633=)
c.7896C>G (p.Leu2632=)
c.1351C>G
n.7982C>G
 dbSNP
19g.38502943C>TCA507354084RYR1c.7899C>T (p.Leu2633=)
c.7896C>T (p.Leu2632=)
c.1351C>T
n.7982C>T
19g.38502944A>CCA405674070RYR1c.7900A>C (p.Asn2634His)
c.7897A>C (p.Asn2633His)
c.1352A>C
n.7983A>C
19g.38502944A>GCA405674072RYR1c.7900A>G (p.Asn2634Asp)
c.7897A>G (p.Asn2633Asp)
c.1352A>G
n.7983A>G
 gnomAD v4
19g.38502944A>TCA405674075RYR1c.7900A>T (p.Asn2634Tyr)
c.7897A>T (p.Asn2633Tyr)
c.1352A>T
n.7983A>T
19g.38502945A=CA2335054849RYR1c.7901A= (p.Asn2634=)
c.7898A= (p.Asn2633=)
c.1353A=
n.7984A=
19g.38502945A>CCA405674091RYR1c.7901A>C (p.Asn2634Thr)
c.7898A>C (p.Asn2633Thr)
c.1353A>C
n.7984A>C
19g.38502945A>GCA405674110RYR1c.7901A>G (p.Asn2634Ser)
c.7898A>G (p.Asn2633Ser)
c.1353A>G
n.7984A>G
 dbSNP gnomAD v4
19g.38502945A>TCA405674113RYR1c.7901A>T (p.Asn2634Ile)
c.7898A>T (p.Asn2633Ile)
c.1353A>T
n.7984A>T
19g.38502946_38502948delCA2584901129RYR1c.7902_7904del (p.Asn2634_Glu2635delinsLys)
c.7899_7901del (p.Asn2633_Glu2634delinsLys)
c.1354_1356del
n.7985_7987del
 gnomAD v4
19g.38502946C>ACA071016RYR1c.7902C>A (p.Asn2634Lys)
c.7899C>A (p.Asn2633Lys)
c.1354C>A
n.7985C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502946C=CA2335054850RYR1c.7902C= (p.Asn2634=)
c.7899C= (p.Asn2633=)
c.1354C=
n.7985C=
19g.38502946C>GCA405674119RYR1c.7902C>G (p.Asn2634Lys)
c.7899C>G (p.Asn2633Lys)
c.1354C>G
n.7985C>G
19g.38502946C>TCA507354086RYR1c.7902C>T (p.Asn2634=)
c.7899C>T (p.Asn2633=)
c.1354C>T
n.7985C>T
 ClinVar dbSNP gnomAD v4
19g.38502947G>ACA308113562RYR1c.7903G>A (p.Glu2635Lys)
c.7900G>A (p.Glu2634Lys)
c.1355G>A
n.7986G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502947G>CCA071020RYR1c.7903G>C (p.Glu2635Gln)
c.7900G>C (p.Glu2634Gln)
c.1355G>C
n.7986G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502947G=CA2335054851RYR1c.7903G= (p.Glu2635=)
c.7900G= (p.Glu2634=)
c.1355G=
n.7986G=
19g.38502947G>TCA405674132RYR1c.7903G>T (p.Glu2635Ter)
c.7900G>T (p.Glu2634Ter)
c.1355G>T
n.7986G>T
 gnomAD v4
19g.38502948A=CA2335054852RYR1c.7904A= (p.Glu2635=)
c.7901A= (p.Glu2634=)
c.1356A=
n.7987A=
19g.38502948A>CCA405674137RYR1c.7904A>C (p.Glu2635Ala)
c.7901A>C (p.Glu2634Ala)
c.1356A>C
n.7987A>C
 gnomAD v4
19g.38502948A>GCA405674140RYR1c.7904A>G (p.Glu2635Gly)
c.7901A>G (p.Glu2634Gly)
c.1356A>G
n.7987A>G
19g.38502948A>TCA071025RYR1c.7904A>T (p.Glu2635Val)
c.7901A>T (p.Glu2634Val)
c.1356A>T
n.7987A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502949G>ACA507354091RYR1c.7905G>A (p.Glu2635=)
c.7902G>A (p.Glu2634=)
c.1357G>A
n.7988G>A
19g.38502949G>CCA405674143RYR1c.7905G>C (p.Glu2635Asp)
c.7902G>C (p.Glu2634Asp)
c.1357G>C
n.7988G>C
19g.38502949G>TCA405674147RYR1c.7905G>T (p.Glu2635Asp)
c.7902G>T (p.Glu2634Asp)
c.1357G>T
n.7988G>T
 gnomAD v4
19g.38502950T>ACA405674151RYR1c.7906T>A (p.Phe2636Ile)
c.7903T>A (p.Phe2635Ile)
c.1358T>A
n.7989T>A
19g.38502950T>CCA405674170RYR1c.7906T>C (p.Phe2636Leu)
c.7903T>C (p.Phe2635Leu)
c.1358T>C
n.7989T>C
 gnomAD v4
19g.38502950T>GCA405674157RYR1c.7906T>G (p.Phe2636Val)
c.7903T>G (p.Phe2635Val)
c.1358T>G
n.7989T>G
19g.38502951T>ACA405674173RYR1c.7907T>A (p.Phe2636Tyr)
c.7904T>A (p.Phe2635Tyr)
c.1359T>A
n.7990T>A
19g.38502951T>CCA405674179RYR1c.7907T>C (p.Phe2636Ser)
c.7904T>C (p.Phe2635Ser)
c.1359T>C
n.7990T>C
19g.38502951T>GCA405674182RYR1c.7907T>G (p.Phe2636Cys)
c.7904T>G (p.Phe2635Cys)
c.1359T>G
n.7990T>G
19g.38502952C>ACA405674186RYR1c.7908C>A (p.Phe2636Leu)
c.7905C>A (p.Phe2635Leu)
c.1360C>A
n.7991C>A
19g.38502952C=CA2335054853RYR1c.7908C= (p.Phe2636=)
c.7905C= (p.Phe2635=)
c.1360C=
n.7991C=
19g.38502952C>GCA405674191RYR1c.7908C>G (p.Phe2636Leu)
c.7905C>G (p.Phe2635Leu)
c.1360C>G
n.7991C>G
 dbSNP gnomAD v2 gnomAD v4
19g.38502952C>TCA507354095RYR1c.7908C>T (p.Phe2636=)
c.7905C>T (p.Phe2635=)
c.1360C>T
n.7991C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38502953G>ACA405674196RYR1c.7909G>A (p.Ala2637Thr)
c.7906G>A (p.Ala2636Thr)
c.1361G>A
n.7992G>A
 dbSNP gnomAD v2 gnomAD v4
19g.38502953G>CCA405674199RYR1c.7909G>C (p.Ala2637Pro)
c.7906G>C (p.Ala2636Pro)
c.1361G>C
n.7992G>C
 ClinVar dbSNP
19g.38502953G=CA2335054854RYR1c.7909G= (p.Ala2637=)
c.7906G= (p.Ala2636=)
c.1361G=
n.7992G=
19g.38502953G>TCA405674200RYR1c.7909G>T (p.Ala2637Ser)
c.7906G>T (p.Ala2636Ser)
c.1361G>T
n.7992G>T
 ClinVar gnomAD v4
19g.38502954C>ACA405674203RYR1c.7910C>A (p.Ala2637Asp)
c.7907C>A (p.Ala2636Asp)
c.1362C>A
n.7993C>A
19g.38502954C>GCA405674207RYR1c.7910C>G (p.Ala2637Gly)
c.7907C>G (p.Ala2636Gly)
c.1362C>G
n.7993C>G
19g.38502954C>TCA405674208RYR1c.7910C>T (p.Ala2637Val)
c.7907C>T (p.Ala2636Val)
c.1362C>T
n.7993C>T
 gnomAD v4
19g.38502955C>ACA507354096RYR1c.7911C>A (p.Ala2637=)
c.7908C>A (p.Ala2636=)
c.1363C>A
n.7994C>A
19g.38502955C=CA2335054855RYR1c.7911C= (p.Ala2637=)
c.7908C= (p.Ala2636=)
c.1363C=
n.7994C=
19g.38502955C>GCA507354097RYR1c.7911C>G (p.Ala2637=)
c.7908C>G (p.Ala2636=)
c.1363C>G
n.7994C>G
19g.38502955C>TCA308113571RYR1c.7911C>T (p.Ala2637=)
c.7908C>T (p.Ala2636=)
c.1363C>T
n.7994C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502956A>CCA405674219RYR1c.7912A>C (p.Lys2638Gln)
c.7909A>C (p.Lys2637Gln)
c.1364A>C
n.7995A>C
19g.38502956A>GCA405674215RYR1c.7912A>G (p.Lys2638Glu)
c.7909A>G (p.Lys2637Glu)
c.1364A>G
n.7995A>G
19g.38502956A>TCA405674214RYR1c.7912A>T (p.Lys2638Ter)
c.7909A>T (p.Lys2637Ter)
c.1364A>T
n.7995A>T
19g.38502957A>CCA405674223RYR1c.7913A>C (p.Lys2638Thr)
c.7910A>C (p.Lys2637Thr)
c.1365A>C
n.7996A>C
19g.38502957A>GCA405674233RYR1c.7913A>G (p.Lys2638Arg)
c.7910A>G (p.Lys2637Arg)
c.1365A>G
n.7996A>G
19g.38502957A>TCA405674237RYR1c.7913A>T (p.Lys2638Met)
c.7910A>T (p.Lys2637Met)
c.1365A>T
n.7996A>T
19g.38502958G>ACA507354101RYR1c.7914G>A (p.Lys2638=)
c.7911G>A (p.Lys2637=)
c.1366G>A
n.7997G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502958G>CCA405674240RYR1c.7914G>C (p.Lys2638Asn)
c.7911G>C (p.Lys2637Asn)
c.1366G>C
n.7997G>C
19g.38502958G=CA2335054856RYR1c.7914G= (p.Lys2638=)
c.7911G= (p.Lys2637=)
c.1366G=
n.7997G=
19g.38502958G>TCA405674244RYR1c.7914G>T (p.Lys2638Asn)
c.7911G>T (p.Lys2637Asn)
c.1366G>T
n.7997G>T
 dbSNP gnomAD v2 gnomAD v4
19g.38502959A=CA2335054857RYR1c.7915A= (p.Met2639=)
c.7912A= (p.Met2638=)
c.1367A=
n.7998A=
19g.38502959A>CCA308113591RYR1c.7915A>C (p.Met2639Leu)
c.7912A>C (p.Met2638Leu)
c.1367A>C
n.7998A>C
 ClinVar dbSNP gnomAD v4
19g.38502959A>GCA405674250RYR1c.7915A>G (p.Met2639Val)
c.7912A>G (p.Met2638Val)
c.1367A>G
n.7998A>G
 dbSNP gnomAD v3 gnomAD v4
19g.38502959A>TCA405674252RYR1c.7915A>T (p.Met2639Leu)
c.7912A>T (p.Met2638Leu)
c.1367A>T
n.7998A>T
19g.38502959dupCA507354102RYR1c.7915dup (p.Met2639AsnfsTer11)
c.7912dup (p.Met2638AsnfsTer11)
c.1367dup
n.7998dup
19g.38502960T>ACA405674254RYR1c.7916T>A (p.Met2639Lys)
c.7913T>A (p.Met2638Lys)
c.1368T>A
n.7999T>A
19g.38502960T>CCA405674257RYR1c.7916T>C (p.Met2639Thr)
c.7913T>C (p.Met2638Thr)
c.1368T>C
n.7999T>C
19g.38502960T>GCA405674261RYR1c.7916T>G (p.Met2639Arg)
c.7913T>G (p.Met2638Arg)
c.1368T>G
n.7999T>G
19g.38502961G>ACA405674264RYR1c.7917G>A (p.Met2639Ile)
c.7914G>A (p.Met2638Ile)
c.1369G>A
n.8000G>A
19g.38502961G>CCA405674263RYR1c.7917G>C (p.Met2639Ile)
c.7914G>C (p.Met2638Ile)
c.1369G>C
n.8000G>C
19g.38502961G>TCA405674262RYR1c.7917G>T (p.Met2639Ile)
c.7914G>T (p.Met2638Ile)
c.1369G>T
n.8000G>T
 gnomAD v4
19g.38502962C>ACA405674265RYR1c.7918C>A (p.Pro2640Thr)
c.7915C>A (p.Pro2639Thr)
c.1370C>A
n.8001C>A
 gnomAD v4
19g.38502962C=CA2335054858RYR1c.7918C= (p.Pro2640=)
c.7915C= (p.Pro2639=)
c.1370C=
n.8001C=
19g.38502962C>GCA405674266RYR1c.7918C>G (p.Pro2640Ala)
c.7915C>G (p.Pro2639Ala)
c.1370C>G
n.8001C>G
19g.38502962C>TCA405674267RYR1c.7918C>T (p.Pro2640Ser)
c.7915C>T (p.Pro2639Ser)
c.1370C>T
n.8001C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38502963C>ACA405674269RYR1c.7919C>A (p.Pro2640Gln)
c.7916C>A (p.Pro2639Gln)
c.1371C>A
n.8002C>A
 gnomAD v4
19g.38502963C=CA2335054859RYR1c.7919C= (p.Pro2640=)
c.7916C= (p.Pro2639=)
c.1371C=
n.8002C=
19g.38502963C>GCA405674271RYR1c.7919C>G (p.Pro2640Arg)
c.7916C>G (p.Pro2639Arg)
c.1371C>G
n.8002C>G
19g.38502963C>TCA308113598RYR1c.7919C>T (p.Pro2640Leu)
c.7916C>T (p.Pro2639Leu)
c.1371C>T
n.8002C>T
 dbSNP gnomAD v4
19g.38502964A>CCA507354021RYR1c.7920A>C (p.Pro2640=)
c.7917A>C (p.Pro2639=)
c.1372A>C
n.8003A>C
19g.38502964A>GCA507354022RYR1c.7920A>G (p.Pro2640=)
c.7917A>G (p.Pro2639=)
c.1372A>G
n.8003A>G
 gnomAD v4
19g.38502964A>TCA507354023RYR1c.7920A>T (p.Pro2640=)
c.7917A>T (p.Pro2639=)
c.1372A>T
n.8003A>T
19g.38502965C>ACA405674275RYR1c.7921C>A (p.Leu2641Ile)
c.7918C>A (p.Leu2640Ile)
c.1373C>A
n.8004C>A
19g.38502965C=CA2335054860RYR1c.7921C= (p.Leu2641=)
c.7918C= (p.Leu2640=)
c.1373C=
n.8004C=
19g.38502965C>GCA405674281RYR1c.7921C>G (p.Leu2641Val)
c.7918C>G (p.Leu2640Val)
c.1373C>G
n.8004C>G
 dbSNP gnomAD v2 gnomAD v4
19g.38502965C>TCA308113606RYR1c.7921C>T (p.Leu2641Phe)
c.7918C>T (p.Leu2640Phe)
c.1373C>T
n.8004C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502966T>ACA405674287RYR1c.7922T>A (p.Leu2641His)
c.7919T>A (p.Leu2640His)
c.1374T>A
n.8005T>A
19g.38502966T>CCA405674288RYR1c.7922T>C (p.Leu2641Pro)
c.7919T>C (p.Leu2640Pro)
c.1374T>C
n.8005T>C
19g.38502966T>GCA405674290RYR1c.7922T>G (p.Leu2641Arg)
c.7919T>G (p.Leu2640Arg)
c.1374T>G
n.8005T>G
19g.38502967C>ACA507354025RYR1c.7923C>A (p.Leu2641=)
c.7920C>A (p.Leu2640=)
c.1375C>A
n.8006C>A
 gnomAD v4
19g.38502967C=CA2335054861RYR1c.7923C= (p.Leu2641=)
c.7920C= (p.Leu2640=)
c.1375C=
n.8006C=
19g.38502967C>GCA024874RYR1c.7923C>G (p.Leu2641=)
c.7920C>G (p.Leu2640=)
c.1375C>G
n.8006C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502967C>TCA507354026RYR1c.7923C>T (p.Leu2641=)
c.7920C>T (p.Leu2640=)
c.1375C>T
n.8006C>T
 gnomAD v4
19g.38502968A>CCA405674300RYR1c.7924A>C (p.Lys2642Gln)
c.7921A>C (p.Lys2641Gln)
c.1376A>C
n.8007A>C
 gnomAD v4
19g.38502968A>GCA405674294RYR1c.7924A>G (p.Lys2642Glu)
c.7921A>G (p.Lys2641Glu)
c.1376A>G
n.8007A>G
 gnomAD v4
19g.38502968A>TCA405674296RYR1c.7924A>T (p.Lys2642Ter)
c.7921A>T (p.Lys2641Ter)
c.1376A>T
n.8007A>T
19g.38502969A=CA2335054862RYR1c.7925A= (p.Lys2642=)
c.7922A= (p.Lys2641=)
c.1377A=
n.8008A=
19g.38502969A>CCA405674302RYR1c.7925A>C (p.Lys2642Thr)
c.7922A>C (p.Lys2641Thr)
c.1377A>C
n.8008A>C
19g.38502969A>GCA071033RYR1c.7925A>G (p.Lys2642Arg)
c.7922A>G (p.Lys2641Arg)
c.1377A>G
n.8008A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502969A>TCA405674309RYR1c.7925A>T (p.Lys2642Met)
c.7922A>T (p.Lys2641Met)
c.1377A>T
n.8008A>T
 ClinVar
19g.38502970G>ACA507354031RYR1c.7926G>A (p.Lys2642=)
c.7923G>A (p.Lys2641=)
c.1378G>A
n.8009G>A
 ClinVar gnomAD v4
19g.38502970G>CCA405674318RYR1c.7926G>C (p.Lys2642Asn)
c.7923G>C (p.Lys2641Asn)
c.1378G>C
n.8009G>C
19g.38502970G>TCA405674320RYR1c.7926G>T (p.Lys2642Asn)
c.7923G>T (p.Lys2641Asn)
c.1378G>T
n.8009G>T
 gnomAD v4
19g.38502971G>ACA405674323RYR1c.7926+1G>A (n.7926+1G>A)
c.7923+1G>A (n.7923+1G>A)
c.1378+1G>A
n.8009+1G>A
 gnomAD v4
19g.38502971G>CCA308113615RYR1c.7926+1G>C (n.7926+1G>C)
c.7923+1G>C (n.7923+1G>C)
c.1378+1G>C
n.8009+1G>C
 dbSNP
19g.38502971G=CA2335054863RYR1c.7926+1G= (n.7926+1G=)
c.7923+1G= (n.7923+1G=)
c.1378+1G=
n.8009+1G=
19g.38502971G>TCA405674332RYR1c.7926+1G>T (n.7926+1G>T)
c.7923+1G>T (n.7923+1G>T)
c.1378+1G>T
n.8009+1G>T
 gnomAD v4
19g.38502972T>ACA405674334RYR1c.7926+2T>A (n.7926+2T>A)
c.7923+2T>A (n.7923+2T>A)
c.1378+2T>A
n.8009+2T>A
19g.38502972T>CCA405674336RYR1c.7926+2T>C (n.7926+2T>C)
c.7923+2T>C (n.7923+2T>C)
c.1378+2T>C
n.8009+2T>C
 ClinVar dbSNP
19g.38502972T>GCA405674338RYR1c.7926+2T>G (n.7926+2T>G)
c.7923+2T>G (n.7923+2T>G)
c.1378+2T>G
n.8009+2T>G
19g.38502972T=CA2335054864RYR1c.7926+2T= (n.7926+2T=)
c.7923+2T= (n.7923+2T=)
c.1378+2T=
n.8009+2T=
19g.38502973G>ACA2584901130RYR1c.7926+3G>A (n.7926+3G>A)
c.7923+3G>A (n.7923+3G>A)
c.1378+3G>A
n.8009+3G>A
 gnomAD v4
19g.38502973G>CCA633066178RYR1c.7926+3G>C (n.7926+3G>C)
c.7923+3G>C (n.7923+3G>C)
c.1378+3G>C
n.8009+3G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502973G=CA2335054865RYR1c.7926+3G= (n.7926+3G=)
c.7923+3G= (n.7923+3G=)
c.1378+3G=
n.8009+3G=
19g.38502973G>TCA2584901131RYR1c.7926+3G>T (n.7926+3G>T)
c.7923+3G>T (n.7923+3G>T)
c.1378+3G>T
n.8009+3G>T
 gnomAD v4
19g.38502974A>GCA2584901132RYR1c.7926+4A>G (n.7926+4A>G)
c.7923+4A>G (n.7923+4A>G)
c.1378+4A>G
n.8009+4A>G
 gnomAD v4
19g.38502975G>ACA658799202RYR1c.7926+5G>A (n.7926+5G>A)
c.7923+5G>A (n.7923+5G>A)
c.1378+5G>A
n.8009+5G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502975G=CA2335054866RYR1c.7926+5G= (n.7926+5G=)
c.7923+5G= (n.7923+5G=)
c.1378+5G=
n.8009+5G=
19g.38502975G>TCA2584901134RYR1c.7926+5G>T (n.7926+5G>T)
c.7923+5G>T (n.7923+5G>T)
c.1378+5G>T
n.8009+5G>T
 gnomAD v4
19g.38502977delCA2584901133RYR1c.7926+7del (n.7926+7del)
c.7923+7del (n.7923+7del)
c.1378+7del
n.8009+7del
 gnomAD v4
19g.38502976G>ACA071068RYR1c.7926+6G>A (n.7926+6G>A)
c.7923+6G>A (n.7923+6G>A)
c.1378+6G>A
n.8009+6G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502976G=CA2335054867RYR1c.7926+6G= (n.7926+6G=)
c.7923+6G= (n.7923+6G=)
c.1378+6G=
n.8009+6G=
19g.38502976G>TCA2584901135RYR1c.7926+6G>T (n.7926+6G>T)
c.7923+6G>T (n.7923+6G>T)
c.1378+6G>T
n.8009+6G>T
 gnomAD v4
19g.38502977G>ACA2584901136RYR1c.7926+7G>A (n.7926+7G>A)
c.7923+7G>A (n.7923+7G>A)
c.1378+7G>A
n.8009+7G>A
 gnomAD v4
19g.38502977G>TCA2584901137RYR1c.7926+7G>T (n.7926+7G>T)
c.7923+7G>T (n.7923+7G>T)
c.1378+7G>T
n.8009+7G>T
 gnomAD v4
19g.38502979A>GCA2584901138RYR1c.7926+9A>G (n.7926+9A>G)
c.7923+9A>G (n.7923+9A>G)
c.1378+9A>G
n.8009+9A>G
 gnomAD v4
19g.38502980A=CA2335054868RYR1c.7926+10A= (n.7926+10A=)
c.7923+10A= (n.7923+10A=)
c.1378+10A=
n.8009+10A=
19g.38502980A>GCA071038RYR1c.7926+10A>G (n.7926+10A>G)
c.7923+10A>G (n.7923+10A>G)
c.1378+10A>G
n.8009+10A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502981G>ACA308113628RYR1c.7926+11G>A (n.7926+11G>A)
c.7923+11G>A (n.7923+11G>A)
c.1378+11G>A
n.8009+11G>A
 ClinVar dbSNP gnomAD v4
19g.38502981G>CCA308113636RYR1c.7926+11G>C (n.7926+11G>C)
c.7923+11G>C (n.7923+11G>C)
c.1378+11G>C
n.8009+11G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502981G=CA2335054869RYR1c.7926+11G= (n.7926+11G=)
c.7923+11G= (n.7923+11G=)
c.1378+11G=
n.8009+11G=
19g.38502981G>TCA2584901139RYR1c.7926+11G>T (n.7926+11G>T)
c.7923+11G>T (n.7923+11G>T)
c.1378+11G>T
n.8009+11G>T
 gnomAD v4
19g.38502982C>ACA2576771140RYR1c.7926+12C>A (n.7926+12C>A)
c.7923+12C>A (n.7923+12C>A)
c.1378+12C>A
n.8009+12C>A
 gnomAD v4
19g.38502982C=CA2335054870RYR1c.7926+12C= (n.7926+12C=)
c.7923+12C= (n.7923+12C=)
c.1378+12C=
n.8009+12C=
19g.38502982C>GCA2335054871RYR1c.7926+12C>G (n.7926+12C>G)
c.7923+12C>G (n.7923+12C>G)
c.1378+12C>G
n.8009+12C>G
 ClinVar dbSNP
19g.38502982C>TCA071041RYR1c.7926+12C>T (n.7926+12C>T)
c.7923+12C>T (n.7923+12C>T)
c.1378+12C>T
n.8009+12C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502983G>ACA995719365RYR1c.7926+13G>A (n.7926+13G>A)
c.7923+13G>A (n.7923+13G>A)
c.1378+13G>A
n.8009+13G>A
 dbSNP gnomAD v3 gnomAD v4
19g.38502983G>CCA882054728RYR1c.7926+13G>C (n.7926+13G>C)
c.7923+13G>C (n.7923+13G>C)
c.1378+13G>C
n.8009+13G>C
 dbSNP
19g.38502983G=CA2335054872RYR1c.7926+13G= (n.7926+13G=)
c.7923+13G= (n.7923+13G=)
c.1378+13G=
n.8009+13G=
19g.38502983G>TCA2565677246RYR1c.7926+13G>T (n.7926+13G>T)
c.7923+13G>T (n.7923+13G>T)
c.1378+13G>T
n.8009+13G>T
 gnomAD v4
19g.38502984C>ACA2576771141RYR1c.7926+14C>A (n.7926+14C>A)
c.7923+14C>A (n.7923+14C>A)
c.1378+14C>A
n.8009+14C>A
 gnomAD v4
19g.38502984C=CA2335054874RYR1c.7926+14C= (n.7926+14C=)
c.7923+14C= (n.7923+14C=)
c.1378+14C=
n.8009+14C=
19g.38502984C>GCA2697556563RYR1c.7926+14C>G (n.7926+14C>G)
c.7923+14C>G (n.7923+14C>G)
c.1378+14C>G
n.8009+14C>G
 ClinVar
19g.38502984C>TCA2335054873RYR1c.7926+14C>T (n.7926+14C>T)
c.7923+14C>T (n.7923+14C>T)
c.1378+14C>T
n.8009+14C>T
 dbSNP gnomAD v4
19g.38502985T>CCA995719371RYR1c.7926+15T>C (n.7926+15T>C)
c.7923+15T>C (n.7923+15T>C)
c.1378+15T>C
n.8009+15T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502985T=CA2335054875RYR1c.7926+15T= (n.7926+15T=)
c.7923+15T= (n.7923+15T=)
c.1378+15T=
n.8009+15T=
19g.38502986C=CA2335054876RYR1c.7926+16C= (n.7926+16C=)
c.7923+16C= (n.7923+16C=)
c.1378+16C=
n.8009+16C=
19g.38502986C>GCA995719372RYR1c.7926+16C>G (n.7926+16C>G)
c.7923+16C>G (n.7923+16C>G)
c.1378+16C>G
n.8009+16C>G
 dbSNP gnomAD v3 gnomAD v4
19g.38502986C>TCA2584901140RYR1c.7926+16C>T (n.7926+16C>T)
c.7923+16C>T (n.7923+16C>T)
c.1378+16C>T
n.8009+16C>T
 dbSNP gnomAD v4
19g.38502987T>CCA882054729RYR1c.7926+17T>C (n.7926+17T>C)
c.7923+17T>C (n.7923+17T>C)
c.1378+17T>C
n.8009+17T>C
 dbSNP gnomAD v3 gnomAD v4
19g.38502987T=CA2335054877RYR1c.7926+17T= (n.7926+17T=)
c.7923+17T= (n.7923+17T=)
c.1378+17T=
n.8009+17T=
19g.38502990A=CA2335054878RYR1c.7926+20A= (n.7926+20A=)
c.7923+20A= (n.7923+20A=)
c.1378+20A=
n.8009+20A=
19g.38502990A>GCA882054730RYR1c.7926+20A>G (n.7926+20A>G)
c.7923+20A>G (n.7923+20A>G)
c.1378+20A>G
n.8009+20A>G
 dbSNP gnomAD v3 gnomAD v4
19g.38502991G>ACA2584901141RYR1c.7926+21G>A (n.7926+21G>A)
c.7923+21G>A (n.7923+21G>A)
c.1378+21G>A
n.8009+21G>A
 gnomAD v4
19g.38502991G>TCA2584901142RYR1c.7926+21G>T (n.7926+21G>T)
c.7923+21G>T (n.7923+21G>T)
c.1378+21G>T
n.8009+21G>T
 gnomAD v4
19g.38502992C>ACA2584901143RYR1c.7926+22C>A (n.7926+22C>A)
c.7923+22C>A (n.7923+22C>A)
c.1378+22C>A
n.8009+22C>A
 gnomAD v4
19g.38502992C>TCA2584901144RYR1c.7926+22C>T (n.7926+22C>T)
c.7923+22C>T (n.7923+22C>T)
c.1378+22C>T
n.8009+22C>T
 gnomAD v4
19g.38502993A=CA2335054879RYR1c.7926+23A= (n.7926+23A=)
c.7923+23A= (n.7923+23A=)
c.1378+23A=
n.8009+23A=
19g.38502993A>GCA2584901145RYR1c.7926+23A>G (n.7926+23A>G)
c.7923+23A>G (n.7923+23A>G)
c.1378+23A>G
n.8009+23A>G
 gnomAD v4
19g.38502993A>TCA308113659RYR1c.7926+23A>T (n.7926+23A>T)
c.7923+23A>T (n.7923+23A>T)
c.1378+23A>T
n.8009+23A>T
 dbSNP
19g.38502994T>ACA071046RYR1c.7926+24T>A (n.7926+24T>A)
c.7923+24T>A (n.7923+24T>A)
c.1378+24T>A
n.8009+24T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502994T=CA2335054880RYR1c.7926+24T= (n.7926+24T=)
c.7923+24T= (n.7923+24T=)
c.1378+24T=
n.8009+24T=
19g.38502995C>ACA633066179RYR1c.7926+25C>A (n.7926+25C>A)
c.7923+25C>A (n.7923+25C>A)
c.1378+25C>A
n.8009+25C>A
 dbSNP gnomAD v2 gnomAD v4
19g.38502995C=CA2335054881RYR1c.7926+25C= (n.7926+25C=)
c.7923+25C= (n.7923+25C=)
c.1378+25C=
n.8009+25C=
19g.38502995C>TCA308113691RYR1c.7926+25C>T (n.7926+25C>T)
c.7923+25C>T (n.7923+25C>T)
c.1378+25C>T
n.8009+25C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38502996T>ACA2584901146RYR1c.7926+26T>A (n.7926+26T>A)
c.7923+26T>A (n.7923+26T>A)
c.1378+26T>A
n.8009+26T>A
 gnomAD v4
19g.38502996T>CCA2576771142RYR1c.7926+26T>C (n.7926+26T>C)
c.7923+26T>C (n.7923+26T>C)
c.1378+26T>C
n.8009+26T>C
 gnomAD v4
19g.38502997C>ACA633066180RYR1c.7926+27C>A (n.7926+27C>A)
c.7923+27C>A (n.7923+27C>A)
c.1378+27C>A
n.8009+27C>A
 dbSNP gnomAD v2 gnomAD v4
19g.38502997C=CA2335054882RYR1c.7926+27C= (n.7926+27C=)
c.7923+27C= (n.7923+27C=)
c.1378+27C=
n.8009+27C=
19g.38502997C>TCA2565879468RYR1c.7926+27C>T (n.7926+27C>T)
c.7923+27C>T (n.7923+27C>T)
c.1378+27C>T
n.8009+27C>T
 gnomAD v4
19g.38502998A=CA2335054883RYR1c.7926+28A= (n.7926+28A=)
c.7923+28A= (n.7923+28A=)
c.1378+28A=
n.8009+28A=
19g.38502998A>CCA2581382511RYR1c.7926+28A>C (n.7926+28A>C)
c.7923+28A>C (n.7923+28A>C)
c.1378+28A>C
n.8009+28A>C
 gnomAD v4
19g.38502998A>GCA024876RYR1c.7926+28A>G (n.7926+28A>G)
c.7923+28A>G (n.7923+28A>G)
c.1378+28A>G
n.8009+28A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502998A>TCA2581382510RYR1c.7926+28A>T (n.7926+28A>T)
c.7923+28A>T (n.7923+28A>T)
c.1378+28A>T
n.8009+28A>T
 gnomAD v4
19g.38502999T>CCA995719385RYR1c.7926+29T>C (n.7926+29T>C)
c.7923+29T>C (n.7923+29T>C)
c.1378+29T>C
n.8009+29T>C
 dbSNP gnomAD v3 gnomAD v4
19g.38502999T=CA2335054884RYR1c.7926+29T= (n.7926+29T=)
c.7923+29T= (n.7923+29T=)
c.1378+29T=
n.8009+29T=
19g.38503002C>ACA2584901147RYR1c.7926+32C>A (n.7926+32C>A)
c.7923+32C>A (n.7923+32C>A)
c.1378+32C>A
n.8009+32C>A
 gnomAD v4
19g.38503002C>TCA2584901148RYR1c.7926+32C>T (n.7926+32C>T)
c.7923+32C>T (n.7923+32C>T)
c.1378+32C>T
n.8009+32C>T
 gnomAD v4
19g.38503003C=CA2335054885RYR1c.7926+33C= (n.7926+33C=)
c.7923+33C= (n.7923+33C=)
c.1378+33C=
n.8009+33C=
19g.38503003C>TCA071052RYR1c.7926+33C>T (n.7926+33C>T)
c.7923+33C>T (n.7923+33C>T)
c.1378+33C>T
n.8009+33C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38503004A=CA2335054886RYR1c.7926+34A= (n.7926+34A=)
c.7923+34A= (n.7923+34A=)
c.1378+34A=
n.8009+34A=
19g.38503004A>GCA633066181RYR1c.7926+34A>G (n.7926+34A>G)
c.7923+34A>G (n.7923+34A>G)
c.1378+34A>G
n.8009+34A>G
 dbSNP gnomAD v2 gnomAD v4
19g.38503005G>ACA071057RYR1c.7926+35G>A (n.7926+35G>A)
c.7923+35G>A (n.7923+35G>A)
c.1378+35G>A
n.8009+35G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38503005G=CA2335054887RYR1c.7926+35G= (n.7926+35G=)
c.7923+35G= (n.7923+35G=)
c.1378+35G=
n.8009+35G=
19g.38503005G>TCA2584901149RYR1c.7926+35G>T (n.7926+35G>T)
c.7923+35G>T (n.7923+35G>T)
c.1378+35G>T
n.8009+35G>T
 gnomAD v4
19g.38503006G>ACA882054745RYR1c.7926+36G>A (n.7926+36G>A)
c.7923+36G>A (n.7923+36G>A)
c.1378+36G>A
n.8009+36G>A
 dbSNP gnomAD v3 gnomAD v4
19g.38503006G>CCA308113736RYR1c.7926+36G>C (n.7926+36G>C)
c.7923+36G>C (n.7923+36G>C)
c.1378+36G>C
n.8009+36G>C
 dbSNP
19g.38503006G=CA2335054888RYR1c.7926+36G= (n.7926+36G=)
c.7923+36G= (n.7923+36G=)
c.1378+36G=
n.8009+36G=
19g.38503006G>TCA2584901150RYR1c.7926+36G>T (n.7926+36G>T)
c.7923+36G>T (n.7923+36G>T)
c.1378+36G>T
n.8009+36G>T
 gnomAD v4
19g.38503007C>ACA2576771143RYR1c.7926+37C>A (n.7926+37C>A)
c.7923+37C>A (n.7923+37C>A)
c.1378+37C>A
n.8009+37C>A
 gnomAD v4
19g.38503007C>TCA2584901151RYR1c.7926+37C>T (n.7926+37C>T)
c.7923+37C>T (n.7923+37C>T)
c.1378+37C>T
n.8009+37C>T
 gnomAD v4
19g.38503008C>ACA2584901152RYR1c.7926+38C>A (n.7926+38C>A)
c.7923+38C>A (n.7923+38C>A)
c.1378+38C>A
n.8009+38C>A
 gnomAD v4
19g.38503008C=CA2335054889RYR1c.7926+38C= (n.7926+38C=)
c.7923+38C= (n.7923+38C=)
c.1378+38C=
n.8009+38C=
19g.38503008C>TCA2335054890RYR1c.7926+38C>T (n.7926+38C>T)
c.7923+38C>T (n.7923+38C>T)
c.1378+38C>T
n.8009+38C>T
 dbSNP gnomAD v4
19g.38503009G>ACA2576771144RYR1c.7926+39G>A (n.7926+39G>A)
c.7923+39G>A (n.7923+39G>A)
c.1378+39G>A
n.8009+39G>A
 dbSNP gnomAD v3 gnomAD v4
19g.38503009G=CA2335054891RYR1c.7926+39G= (n.7926+39G=)
c.7923+39G= (n.7923+39G=)
c.1378+39G=
n.8009+39G=
19g.38503009G>TCA2335054892RYR1c.7926+39G>T (n.7926+39G>T)
c.7923+39G>T (n.7923+39G>T)
c.1378+39G>T
n.8009+39G>T
 dbSNP gnomAD v4
19g.38503010C>ACA2584901153RYR1c.7926+40C>A (n.7926+40C>A)
c.7923+40C>A (n.7923+40C>A)
c.1378+40C>A
n.8009+40C>A
 gnomAD v4
19g.38503010C=CA2335054893RYR1c.7926+40C= (n.7926+40C=)
c.7923+40C= (n.7923+40C=)
c.1378+40C=
n.8009+40C=
19g.38503010C>TCA071062RYR1c.7926+40C>T (n.7926+40C>T)
c.7923+40C>T (n.7923+40C>T)
c.1378+40C>T
n.8009+40C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38503011A=CA2335054894RYR1c.7926+41A= (n.7926+41A=)
c.7923+41A= (n.7923+41A=)
c.1378+41A=
n.8009+41A=
19g.38503011A>GCA2335054895RYR1c.7926+41A>G (n.7926+41A>G)
c.7923+41A>G (n.7923+41A>G)
c.1378+41A>G
n.8009+41A>G
 dbSNP gnomAD v4
19g.38503012C>ACA2584901154RYR1c.7926+42C>A (n.7926+42C>A)
c.7923+42C>A (n.7923+42C>A)
c.1378+42C>A
n.8009+42C>A
 gnomAD v4
19g.38503012C=CA2335054896RYR1c.7926+42C= (n.7926+42C=)
c.7923+42C= (n.7923+42C=)
c.1378+42C=
n.8009+42C=
19g.38503012C>TCA2335054897RYR1c.7926+42C>T (n.7926+42C>T)
c.7923+42C>T (n.7923+42C>T)
c.1378+42C>T
n.8009+42C>T
 dbSNP gnomAD v4
19g.38503014delCA2576771145RYR1c.7926+44del (n.7926+44del)
c.7923+44del (n.7923+44del)
c.1378+44del
n.8009+44del
 gnomAD v4
19g.38503013C>ACA2584901155RYR1c.7926+43C>A (n.7926+43C>A)
c.7923+43C>A (n.7923+43C>A)
c.1378+43C>A
n.8009+43C>A
 gnomAD v4
19g.38503013C=CA2335054898RYR1c.7926+43C= (n.7926+43C=)
c.7923+43C= (n.7923+43C=)
c.1378+43C=
n.8009+43C=
19g.38503013C>GCA2584901156RYR1c.7926+43C>G (n.7926+43C>G)
c.7923+43C>G (n.7923+43C>G)
c.1378+43C>G
n.8009+43C>G
 gnomAD v4
19g.38503013C>TCA633066182RYR1c.7926+43C>T (n.7926+43C>T)
c.7923+43C>T (n.7923+43C>T)
c.1378+43C>T
n.8009+43C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38503014C>ACA2584901157RYR1c.7926+44C>A (n.7926+44C>A)
c.7923+44C>A (n.7923+44C>A)
c.1378+44C>A
n.8009+44C>A
 gnomAD v4
19g.38503014C=CA2335054899RYR1c.7926+44C= (n.7926+44C=)
c.7923+44C= (n.7923+44C=)
c.1378+44C=
n.8009+44C=
19g.38503014C>GCA882054754RYR1c.7926+44C>G (n.7926+44C>G)
c.7923+44C>G (n.7923+44C>G)
c.1378+44C>G
n.8009+44C>G
 dbSNP
19g.38503014C>TCA882054752RYR1c.7926+44C>T (n.7926+44C>T)
c.7923+44C>T (n.7923+44C>T)
c.1378+44C>T
n.8009+44C>T
 dbSNP gnomAD v4
19g.38503016C=CA2335054900RYR1c.7926+46C= (n.7926+46C=)
c.7923+46C= (n.7923+46C=)
c.1378+46C=
n.8009+46C=
19g.38503016C>GCA633066183RYR1c.7926+46C>G (n.7926+46C>G)
c.7923+46C>G (n.7923+46C>G)
c.1378+46C>G
n.8009+46C>G
 dbSNP gnomAD v2 gnomAD v4
19g.38503016C>TCA633066184RYR1c.7926+46C>T (n.7926+46C>T)
c.7923+46C>T (n.7923+46C>T)
c.1378+46C>T
n.8009+46C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38503017T>GCA2584901158RYR1c.7926+47T>G (n.7926+47T>G)
c.7923+47T>G (n.7923+47T>G)
c.1378+47T>G
n.8009+47T>G
 gnomAD v4
19g.38503019G>TCA2584901159RYR1c.7926+49G>T (n.7926+49G>T)
c.7923+49G>T (n.7923+49G>T)
c.1378+49G>T
n.8009+49G>T
 gnomAD v4
19g.38503020T>CCA2576771146RYR1c.7926+50T>C (n.7926+50T>C)
c.7923+50T>C (n.7923+50T>C)
c.1378+50T>C
n.8009+50T>C
19g.38503021T>ACA2584901161RYR1c.7926+51T>A (n.7926+51T>A)
c.7923+51T>A (n.7923+51T>A)
c.1378+51T>A
n.8009+51T>A
 gnomAD v4
19g.38503023_38503028delCA2584901160RYR1c.7926+53_7926+58del (n.7926+53_7926+58del)
c.7923+53_7923+58del (n.7923+53_7923+58del)
c.1378+53_1378+58del
n.8009+53_8009+58del
 gnomAD v4
19g.38503022T>GCA2814347405RYR1c.7926+52T>G (n.7926+52T>G)
c.7923+52T>G (n.7923+52T>G)
c.1378+52T>G
n.8009+52T>G
19g.38503023G>ACA2584901162RYR1c.7926+53G>A (n.7926+53G>A)
c.7923+53G>A (n.7923+53G>A)
c.1378+53G>A
n.8009+53G>A
 gnomAD v4
19g.38503023G=CA2335054901RYR1c.7926+53G= (n.7926+53G=)
c.7923+53G= (n.7923+53G=)
c.1378+53G=
n.8009+53G=
19g.38503023G>TCA995719394RYR1c.7926+53G>T (n.7926+53G>T)
c.7923+53G>T (n.7923+53G>T)
c.1378+53G>T
n.8009+53G>T
 dbSNP gnomAD v3 gnomAD v4
19g.38503024C>ACA2584901163RYR1c.7926+54C>A (n.7926+54C>A)
c.7923+54C>A (n.7923+54C>A)
c.1378+54C>A
n.8009+54C>A
 gnomAD v4
19g.38503026C>ACA2584901164RYR1c.7926+56C>A (n.7926+56C>A)
c.7923+56C>A (n.7923+56C>A)
c.1378+56C>A
n.8009+56C>A
 gnomAD v4
19g.38503026C>TCA2584901165RYR1c.7926+56C>T (n.7926+56C>T)
c.7923+56C>T (n.7923+56C>T)
c.1378+56C>T
n.8009+56C>T
 gnomAD v4
19g.38503027T>ACA308113747RYR1c.7926+57T>A (n.7926+57T>A)
c.7923+57T>A (n.7923+57T>A)
c.1378+57T>A
n.8009+57T>A
 dbSNP gnomAD v3 gnomAD v4
19g.38503027T>CCA2584901166RYR1c.7926+57T>C (n.7926+57T>C)
c.7923+57T>C (n.7923+57T>C)
c.1378+57T>C
n.8009+57T>C
 gnomAD v4
19g.38503027T>GCA2584901167RYR1c.7926+57T>G (n.7926+57T>G)
c.7923+57T>G (n.7923+57T>G)
c.1378+57T>G
n.8009+57T>G
 gnomAD v4
19g.38503027T=CA2335054902RYR1c.7926+57T= (n.7926+57T=)
c.7923+57T= (n.7923+57T=)
c.1378+57T=
n.8009+57T=
19g.38503029C>ACA2584901169RYR1c.7926+59C>A (n.7926+59C>A)
c.7923+59C>A (n.7923+59C>A)
c.1378+59C>A
n.8009+59C>A
 gnomAD v4
19g.38503029C=CA2335054903RYR1c.7926+59C= (n.7926+59C=)
c.7923+59C= (n.7923+59C=)
c.1378+59C=
n.8009+59C=
19g.38503029C>GCA2576771147RYR1c.7926+59C>G (n.7926+59C>G)
c.7923+59C>G (n.7923+59C>G)
c.1378+59C>G
n.8009+59C>G
19g.38503029C>TCA308113748RYR1c.7926+59C>T (n.7926+59C>T)
c.7923+59C>T (n.7923+59C>T)
c.1378+59C>T
n.8009+59C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38503031delCA2584901168RYR1c.7926+61del (n.7926+61del)
c.7923+61del (n.7923+61del)
c.1378+61del
n.8009+61del
 gnomAD v4
19g.38503030C>ACA2584901170RYR1c.7926+60C>A (n.7926+60C>A)
c.7923+60C>A (n.7923+60C>A)
c.1378+60C>A
n.8009+60C>A
 gnomAD v4
19g.38503030C=CA2335054904RYR1c.7926+60C= (n.7926+60C=)
c.7923+60C= (n.7923+60C=)
c.1378+60C=
n.8009+60C=
19g.38503030C>TCA308113749RYR1c.7926+60C>T (n.7926+60C>T)
c.7923+60C>T (n.7923+60C>T)
c.1378+60C>T
n.8009+60C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38503031C>ACA2584901171RYR1c.7926+61C>A (n.7926+61C>A)
c.7923+61C>A (n.7923+61C>A)
c.1378+61C>A
n.8009+61C>A
 gnomAD v4
19g.38503031C=CA2335054905RYR1c.7926+61C= (n.7926+61C=)
c.7923+61C= (n.7923+61C=)
c.1378+61C=
n.8009+61C=
19g.38503031C>TCA882054763RYR1c.7926+61C>T (n.7926+61C>T)
c.7923+61C>T (n.7923+61C>T)
c.1378+61C>T
n.8009+61C>T
 dbSNP gnomAD v4
19g.38503032T>CCA308113754RYR1c.7926+62T>C (n.7926+62T>C)
c.7923+62T>C (n.7923+62T>C)
c.1378+62T>C
n.8009+62T>C
 dbSNP gnomAD v3 gnomAD v4
19g.38503032T=CA2335054906RYR1c.7926+62T= (n.7926+62T=)
c.7923+62T= (n.7923+62T=)
c.1378+62T=
n.8009+62T=
19g.38503033C>ACA2584901172RYR1c.7926+63C>A (n.7926+63C>A)
c.7923+63C>A (n.7923+63C>A)
c.1378+63C>A
n.8009+63C>A
 gnomAD v4
19g.38503033C>TCA2584901173RYR1c.7926+63C>T (n.7926+63C>T)
c.7923+63C>T (n.7923+63C>T)
c.1378+63C>T
n.8009+63C>T
 gnomAD v4
19g.38503034C>ACA2576771148RYR1c.7926+64C>A (n.7926+64C>A)
c.7923+64C>A (n.7923+64C>A)
c.1378+64C>A
n.8009+64C>A
 gnomAD v4
19g.38503035T>ACA2584901174RYR1c.7926+65T>A (n.7926+65T>A)
c.7923+65T>A (n.7923+65T>A)
c.1378+65T>A
n.8009+65T>A
 gnomAD v4
19g.38503035T>CCA2335054907RYR1c.7926+65T>C (n.7926+65T>C)
c.7923+65T>C (n.7923+65T>C)
c.1378+65T>C
n.8009+65T>C
 dbSNP gnomAD v4
19g.38503035T=CA2335054908RYR1c.7926+65T= (n.7926+65T=)
c.7923+65T= (n.7923+65T=)
c.1378+65T=
n.8009+65T=

Number of alleles fetched