Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
19g.38504339C>GCA405676110RYR1c.8046C>G (p.Ile2682Met)
c.8043C>G (p.Ile2681Met)
c.1498C>G
n.8129C>G
19g.38504339C>TCA507244280RYR1c.8046C>T (p.Ile2682=)
c.8043C>T (p.Ile2681=)
c.1498C>T
n.8129C>T
19g.38504340T>ACA405676116RYR1c.8047T>A (p.Phe2683Ile)
c.8044T>A (p.Phe2682Ile)
c.1499T>A
n.8130T>A
19g.38504340T>CCA405676119RYR1c.8047T>C (p.Phe2683Leu)
c.8044T>C (p.Phe2682Leu)
c.1499T>C
n.8130T>C
19g.38504340T>GCA405676113RYR1c.8047T>G (p.Phe2683Val)
c.8044T>G (p.Phe2682Val)
c.1499T>G
n.8130T>G
19g.38504341T>ACA405676120RYR1c.8048T>A (p.Phe2683Tyr)
c.8045T>A (p.Phe2682Tyr)
c.1500T>A
n.8131T>A
19g.38504341T>CCA405676122RYR1c.8048T>C (p.Phe2683Ser)
c.8045T>C (p.Phe2682Ser)
c.1500T>C
n.8131T>C
19g.38504341T>GCA405676130RYR1c.8048T>G (p.Phe2683Cys)
c.8045T>G (p.Phe2682Cys)
c.1500T>G
n.8131T>G
19g.38504342T>ACA405676132RYR1c.8049T>A (p.Phe2683Leu)
c.8046T>A (p.Phe2682Leu)
c.1501T>A
n.8132T>A
19g.38504342T>CCA507244281RYR1c.8049T>C (p.Phe2683=)
c.8046T>C (p.Phe2682=)
c.1501T>C
n.8132T>C
 ClinVar dbSNP gnomAD v4
19g.38504342T>GCA405676134RYR1c.8049T>G (p.Phe2683Leu)
c.8046T>G (p.Phe2682Leu)
c.1501T>G
n.8132T>G
19g.38504342T=CA2335055623RYR1c.8049T= (p.Phe2683=)
c.8046T= (p.Phe2682=)
c.1501T=
n.8132T=
19g.38504343G>ACA405676140RYR1c.8050G>A (p.Asp2684Asn)
c.8047G>A (p.Asp2683Asn)
c.1502G>A
n.8133G>A
19g.38504343G>CCA405676137RYR1c.8050G>C (p.Asp2684His)
c.8047G>C (p.Asp2683His)
c.1502G>C
n.8133G>C
19g.38504343G>TCA405676138RYR1c.8050G>T (p.Asp2684Tyr)
c.8047G>T (p.Asp2683Tyr)
c.1502G>T
n.8133G>T
19g.38504344A>CCA405676143RYR1c.8051A>C (p.Asp2684Ala)
c.8048A>C (p.Asp2683Ala)
c.1503A>C
n.8134A>C
19g.38504344A>GCA405676144RYR1c.8051A>G (p.Asp2684Gly)
c.8048A>G (p.Asp2683Gly)
c.1503A>G
n.8134A>G
19g.38504344A>TCA405676146RYR1c.8051A>T (p.Asp2684Val)
c.8048A>T (p.Asp2683Val)
c.1503A>T
n.8134A>T
19g.38504345C>ACA405676148RYR1c.8052C>A (p.Asp2684Glu)
c.8049C>A (p.Asp2683Glu)
c.1504C>A
n.8135C>A

Number of alleles fetched