Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38504326T>ACA405676052RYR1c.8033T>A (p.Leu2678His)
c.8030T>A (p.Leu2677His)
c.1485T>A
n.8116T>A
 dbSNP gnomAD v4
19g.38504326T>CCA405676055RYR1c.8033T>C (p.Leu2678Pro)
c.8030T>C (p.Leu2677Pro)
c.1485T>C
n.8116T>C
19g.38504326T>GCA405676057RYR1c.8033T>G (p.Leu2678Arg)
c.8030T>G (p.Leu2677Arg)
c.1485T>G
n.8116T>G
19g.38504326T=CA2335055614RYR1c.8033T= (p.Leu2678=)
c.8030T= (p.Leu2677=)
c.1485T=
n.8116T=
19g.38504327C>ACA507244272RYR1c.8034C>A (p.Leu2678=)
c.8031C>A (p.Leu2677=)
c.1486C>A
n.8117C>A
 dbSNP gnomAD v2 gnomAD v4
19g.38504327C=CA2335055615RYR1c.8034C= (p.Leu2678=)
c.8031C= (p.Leu2677=)
c.1486C=
n.8117C=
19g.38504327C>GCA507244273RYR1c.8034C>G (p.Leu2678=)
c.8031C>G (p.Leu2677=)
c.1486C>G
n.8117C>G
19g.38504327C>TCA507244274RYR1c.8034C>T (p.Leu2678=)
c.8031C>T (p.Leu2677=)
c.1486C>T
n.8117C>T
19g.38504328T>ACA071329RYR1c.8035T>A (p.Phe2679Ile)
c.8032T>A (p.Phe2678Ile)
c.1487T>A
n.8118T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38504328T>CCA405676061RYR1c.8035T>C (p.Phe2679Leu)
c.8032T>C (p.Phe2678Leu)
c.1487T>C
n.8118T>C
19g.38504328T>GCA405676058RYR1c.8035T>G (p.Phe2679Val)
c.8032T>G (p.Phe2678Val)
c.1487T>G
n.8118T>G
19g.38504328T=CA2335055616RYR1c.8035T= (p.Phe2679=)
c.8032T= (p.Phe2678=)
c.1487T=
n.8118T=
19g.38504329T>ACA405676064RYR1c.8036T>A (p.Phe2679Tyr)
c.8033T>A (p.Phe2678Tyr)
c.1488T>A
n.8119T>A
 dbSNP
19g.38504329T>CCA405676066RYR1c.8036T>C (p.Phe2679Ser)
c.8033T>C (p.Phe2678Ser)
c.1488T>C
n.8119T>C
19g.38504329T>GCA405676068RYR1c.8036T>G (p.Phe2679Cys)
c.8033T>G (p.Phe2678Cys)
c.1488T>G
n.8119T>G
19g.38504329T=CA2335055617RYR1c.8036T= (p.Phe2679=)
c.8033T= (p.Phe2678=)
c.1488T=
n.8119T=
19g.38504330C>ACA405676070RYR1c.8037C>A (p.Phe2679Leu)
c.8034C>A (p.Phe2678Leu)
c.1489C>A
n.8120C>A
19g.38504330C>GCA405676072RYR1c.8037C>G (p.Phe2679Leu)
c.8034C>G (p.Phe2678Leu)
c.1489C>G
n.8120C>G
19g.38504330C>TCA507244275RYR1c.8037C>T (p.Phe2679=)
c.8034C>T (p.Phe2678=)
c.1489C>T
n.8120C>T
19g.38504331T>ACA083041RYR1c.8038T>A (p.Trp2680Arg)
c.8035T>A (p.Trp2679Arg)
c.1490T>A
n.8121T>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38504331T>CCA405676073RYR1c.8038T>C (p.Trp2680Arg)
c.8035T>C (p.Trp2679Arg)
c.1490T>C
n.8121T>C
19g.38504331T>GCA405676076RYR1c.8038T>G (p.Trp2680Gly)
c.8035T>G (p.Trp2679Gly)
c.1490T>G
n.8121T>G
19g.38504331T=CA2335055618RYR1c.8038T= (p.Trp2680=)
c.8035T= (p.Trp2679=)
c.1490T=
n.8121T=
19g.38504332G>ACA405676078RYR1c.8039G>A (p.Trp2680Ter)
c.8036G>A (p.Trp2679Ter)
c.1491G>A
n.8122G>A
 COSMIC
19g.38504332G>CCA405676086RYR1c.8039G>C (p.Trp2680Ser)
c.8036G>C (p.Trp2679Ser)
c.1491G>C
n.8122G>C
19g.38504332G>TCA405676087RYR1c.8039G>T (p.Trp2680Leu)
c.8036G>T (p.Trp2679Leu)
c.1491G>T
n.8122G>T
19g.38504333G>ACA405676090RYR1c.8040G>A (p.Trp2680Ter)
c.8037G>A (p.Trp2679Ter)
c.1492G>A
n.8123G>A
19g.38504333G>CCA405676089RYR1c.8040G>C (p.Trp2680Cys)
c.8037G>C (p.Trp2679Cys)
c.1492G>C
n.8123G>C
19g.38504333G>TCA405676088RYR1c.8040G>T (p.Trp2680Cys)
c.8037G>T (p.Trp2679Cys)
c.1492G>T
n.8123G>T
19g.38504334G>ACA308115932RYR1c.8041G>A (p.Gly2681Ser)
c.8038G>A (p.Gly2680Ser)
c.1493G>A
n.8124G>A
 dbSNP gnomAD v2 gnomAD v4
19g.38504334G>CCA405676092RYR1c.8041G>C (p.Gly2681Arg)
c.8038G>C (p.Gly2680Arg)
c.1493G>C
n.8124G>C
19g.38504334G=CA2335055619RYR1c.8041G= (p.Gly2681=)
c.8038G= (p.Gly2680=)
c.1493G=
n.8124G=
19g.38504334G>TCA405676094RYR1c.8041G>T (p.Gly2681Cys)
c.8038G>T (p.Gly2680Cys)
c.1493G>T
n.8124G>T
19g.38504335G>ACA405676095RYR1c.8042G>A (p.Gly2681Asp)
c.8039G>A (p.Gly2680Asp)
c.1494G>A
n.8125G>A
 ClinVar gnomAD v4
19g.38504335G>CCA405676096RYR1c.8042G>C (p.Gly2681Ala)
c.8039G>C (p.Gly2680Ala)
c.1494G>C
n.8125G>C
 ClinVar dbSNP gnomAD v4
19g.38504335G=CA2335055620RYR1c.8042G= (p.Gly2681=)
c.8039G= (p.Gly2680=)
c.1494G=
n.8125G=
19g.38504335G>TCA405676097RYR1c.8042G>T (p.Gly2681Val)
c.8039G>T (p.Gly2680Val)
c.1494G>T
n.8125G>T
19g.38504336C>ACA507244276RYR1c.8043C>A (p.Gly2681=)
c.8040C>A (p.Gly2680=)
c.1495C>A
n.8126C>A
19g.38504336C>GCA507244277RYR1c.8043C>G (p.Gly2681=)
c.8040C>G (p.Gly2680=)
c.1495C>G
n.8126C>G
19g.38504336C>TCA507244278RYR1c.8043C>T (p.Gly2681=)
c.8040C>T (p.Gly2680=)
c.1495C>T
n.8126C>T
19g.38504339_38504357dupCA1139666425RYR1c.8046_8064dup (p.Lys2689LeufsTer2)
c.8043_8061dup (p.Lys2688LeufsTer2)
c.1498_1516dup
n.8129_8147dup
 ClinVar dbSNP
19g.38504337A=CA2335055621RYR1c.8044A= (p.Ile2682=)
c.8041A= (p.Ile2681=)
c.1496A=
n.8127A=
19g.38504337A>CCA405676099RYR1c.8044A>C (p.Ile2682Leu)
c.8041A>C (p.Ile2681Leu)
c.1496A>C
n.8127A>C
19g.38504337A>GCA308115933RYR1c.8044A>G (p.Ile2682Val)
c.8041A>G (p.Ile2681Val)
c.1496A>G
n.8127A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38504337A>TCA405676102RYR1c.8044A>T (p.Ile2682Phe)
c.8041A>T (p.Ile2681Phe)
c.1496A>T
n.8127A>T
19g.38504338T>ACA405676104RYR1c.8045T>A (p.Ile2682Asn)
c.8042T>A (p.Ile2681Asn)
c.1497T>A
n.8128T>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38504338T>CCA405676106RYR1c.8045T>C (p.Ile2682Thr)
c.8042T>C (p.Ile2681Thr)
c.1497T>C
n.8128T>C
19g.38504338T>GCA405676108RYR1c.8045T>G (p.Ile2682Ser)
c.8042T>G (p.Ile2681Ser)
c.1497T>G
n.8128T>G
19g.38504338T=CA2335055622RYR1c.8045T= (p.Ile2682=)
c.8042T= (p.Ile2681=)
c.1497T=
n.8128T=
19g.38504339C>ACA507244279RYR1c.8046C>A (p.Ile2682=)
c.8043C>A (p.Ile2681=)
c.1498C>A
n.8129C>A
 ClinVar gnomAD v4

Number of alleles fetched