Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38505868G>ACA16043556RYR1c.8463G>A (p.Trp2821Ter)
c.8460G>A (p.Trp2820Ter)
c.1915G>A
n.8546G>A
 ClinVar dbSNP gnomAD v4
19g.38505868G>CCA405678701RYR1c.8463G>C (p.Trp2821Cys)
c.8460G>C (p.Trp2820Cys)
c.1915G>C
n.8546G>C
19g.38505868G=CA2335056359RYR1c.8463G= (p.Trp2821=)
c.8460G= (p.Trp2820=)
c.1915G=
n.8546G=
19g.38505868G>TCA405678702RYR1c.8463G>T (p.Trp2821Cys)
c.8460G>T (p.Trp2820Cys)
c.1915G>T
n.8546G>T
19g.38505869A=CA2335056360RYR1c.8464A= (p.Thr2822=)
c.8461A= (p.Thr2821=)
c.1916A=
n.8547A=
19g.38505869A>CCA405678704RYR1c.8464A>C (p.Thr2822Pro)
c.8461A>C (p.Thr2821Pro)
c.1916A>C
n.8547A>C
19g.38505869A>GCA405678705RYR1c.8464A>G (p.Thr2822Ala)
c.8461A>G (p.Thr2821Ala)
c.1916A>G
n.8547A>G
19g.38505869A>TCA405678706RYR1c.8464A>T (p.Thr2822Ser)
c.8461A>T (p.Thr2821Ser)
c.1916A>T
n.8547A>T
 ClinVar
19g.38505870C>ACA405678710RYR1c.8465C>A (p.Thr2822Lys)
c.8462C>A (p.Thr2821Lys)
c.1917C>A
n.8548C>A
19g.38505870C=CA2335056361RYR1c.8465C= (p.Thr2822=)
c.8462C= (p.Thr2821=)
c.1917C=
n.8548C=
19g.38505870C>GCA405678709RYR1c.8465C>G (p.Thr2822Arg)
c.8462C>G (p.Thr2821Arg)
c.1917C>G
n.8548C>G
19g.38505870C>TCA072072RYR1c.8465C>T (p.Thr2822Met)
c.8462C>T (p.Thr2821Met)
c.1917C>T
n.8548C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38505870dupCA632875454RYR1c.8465dup (p.Ile2823AspfsTer8)
c.8462dup (p.Ile2822AspfsTer8)
c.1917dup
n.8548dup
 dbSNP gnomAD v2 gnomAD v4
19g.38505871G>ACA072075RYR1c.8466G>A (p.Thr2822=)
c.8463G>A (p.Thr2821=)
c.1918G>A
n.8549G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38505871G>CCA507245052RYR1c.8466G>C (p.Thr2822=)
c.8463G>C (p.Thr2821=)
c.1918G>C
n.8549G>C
19g.38505871G=CA2335056362RYR1c.8466G= (p.Thr2822=)
c.8463G= (p.Thr2821=)
c.1918G=
n.8549G=
19g.38505871G>TCA507245053RYR1c.8466G>T (p.Thr2822=)
c.8463G>T (p.Thr2821=)
c.1918G>T
n.8549G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38505872A>CCA405678714RYR1c.8467A>C (p.Ile2823Leu)
c.8464A>C (p.Ile2822Leu)
c.1919A>C
n.8550A>C
19g.38505872A>GCA405678715RYR1c.8467A>G (p.Ile2823Val)
c.8464A>G (p.Ile2822Val)
c.1919A>G
n.8550A>G
19g.38505872A>TCA405678717RYR1c.8467A>T (p.Ile2823Leu)
c.8464A>T (p.Ile2822Leu)
c.1919A>T
n.8550A>T
19g.38505873T>ACA405678720RYR1c.8468T>A (p.Ile2823Lys)
c.8465T>A (p.Ile2822Lys)
c.1920T>A
n.8551T>A
19g.38505873T>CCA405678721RYR1c.8468T>C (p.Ile2823Thr)
c.8465T>C (p.Ile2822Thr)
c.1920T>C
n.8551T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38505873T>GCA405678723RYR1c.8468T>G (p.Ile2823Arg)
c.8465T>G (p.Ile2822Arg)
c.1920T>G
n.8551T>G
19g.38505873T=CA2335056363RYR1c.8468T= (p.Ile2823=)
c.8465T= (p.Ile2822=)
c.1920T=
n.8551T=
19g.38505874A=CA2335056364RYR1c.8469A= (p.Ile2823=)
c.8466A= (p.Ile2822=)
c.1921A=
n.8552A=
19g.38505874A>CCA507245055RYR1c.8469A>C (p.Ile2823=)
c.8466A>C (p.Ile2822=)
c.1921A>C
n.8552A>C
19g.38505874A>GCA405678725RYR1c.8469A>G (p.Ile2823Met)
c.8466A>G (p.Ile2822Met)
c.1921A>G
n.8552A>G
19g.38505874A>TCA507245054RYR1c.8469A>T (p.Ile2823=)
c.8466A>T (p.Ile2822=)
c.1921A>T
n.8552A>T
19g.38505875G>ACA405678728RYR1c.8470G>A (p.Glu2824Lys)
c.8467G>A (p.Glu2823Lys)
c.1922G>A
n.8553G>A
 dbSNP gnomAD v4
19g.38505875G>CCA405678730RYR1c.8470G>C (p.Glu2824Gln)
c.8467G>C (p.Glu2823Gln)
c.1922G>C
n.8553G>C
19g.38505875G=CA2335056365RYR1c.8470G= (p.Glu2824=)
c.8467G= (p.Glu2823=)
c.1922G=
n.8553G=
19g.38505875G>TCA405678731RYR1c.8470G>T (p.Glu2824Ter)
c.8467G>T (p.Glu2823Ter)
c.1922G>T
n.8553G>T
19g.38505881_38505904dupCA2335056366RYR1c.8476_8499dup (p.Lys2833_Thr2834insAlaArgGluGlyGluGluGluLys)
c.8473_8496dup (p.Lys2832_Thr2833insAlaArgGluGlyGluGluGluLys)
c.1928_1951dup
n.8559_8582dup
 dbSNP gnomAD v4
19g.38505876A=CA2335056367RYR1c.8471A= (p.Glu2824=)
c.8468A= (p.Glu2823=)
c.1923A=
n.8554A=
19g.38505876A>CCA405678734RYR1c.8471A>C (p.Glu2824Ala)
c.8468A>C (p.Glu2823Ala)
c.1923A>C
n.8554A>C
19g.38505876A>GCA405678736RYR1c.8471A>G (p.Glu2824Gly)
c.8468A>G (p.Glu2823Gly)
c.1923A>G
n.8554A>G
 ClinVar dbSNP COSMIC
19g.38505876A>TCA405678738RYR1c.8471A>T (p.Glu2824Val)
c.8468A>T (p.Glu2823Val)
c.1923A>T
n.8554A>T
19g.38505877G>ACA308117530RYR1c.8472G>A (p.Glu2824=)
c.8469G>A (p.Glu2823=)
c.1924G>A
n.8555G>A
 dbSNP
19g.38505877G>CCA405678741RYR1c.8472G>C (p.Glu2824Asp)
c.8469G>C (p.Glu2823Asp)
c.1924G>C
n.8555G>C
19g.38505877G=CA2335056368RYR1c.8472G= (p.Glu2824=)
c.8469G= (p.Glu2823=)
c.1924G=
n.8555G=
19g.38505877G>TCA405678739RYR1c.8472G>T (p.Glu2824Asp)
c.8469G>T (p.Glu2823Asp)
c.1924G>T
n.8555G>T
19g.38505878A>CCA405678746RYR1c.8473A>C (p.Lys2825Gln)
c.8470A>C (p.Lys2824Gln)
c.1925A>C
n.8556A>C
 gnomAD v4
19g.38505878A>GCA405678744RYR1c.8473A>G (p.Lys2825Glu)
c.8470A>G (p.Lys2824Glu)
c.1925A>G
n.8556A>G
 ClinVar
19g.38505878A>TCA405678747RYR1c.8473A>T (p.Lys2825Ter)
c.8470A>T (p.Lys2824Ter)
c.1925A>T
n.8556A>T
19g.38505879A=CA2335056369RYR1c.8474A= (p.Lys2825=)
c.8471A= (p.Lys2824=)
c.1926A=
n.8557A=
19g.38505879A>CCA405678749RYR1c.8474A>C (p.Lys2825Thr)
c.8471A>C (p.Lys2824Thr)
c.1926A>C
n.8557A>C
19g.38505879A>GCA308117532RYR1c.8474A>G (p.Lys2825Arg)
c.8471A>G (p.Lys2824Arg)
c.1926A>G
n.8557A>G
 dbSNP gnomAD v2 gnomAD v4
19g.38505879A>TCA405678751RYR1c.8474A>T (p.Lys2825Met)
c.8471A>T (p.Lys2824Met)
c.1926A>T
n.8557A>T
 gnomAD v4
19g.38505880G>ACA507245056RYR1c.8475G>A (p.Lys2825=)
c.8472G>A (p.Lys2824=)
c.1927G>A
n.8558G>A
19g.38505880G>CCA405678753RYR1c.8475G>C (p.Lys2825Asn)
c.8472G>C (p.Lys2824Asn)
c.1927G>C
n.8558G>C
19g.38505880G>TCA405678755RYR1c.8475G>T (p.Lys2825Asn)
c.8472G>T (p.Lys2824Asn)
c.1927G>T
n.8558G>T
19g.38505881G>ACA405678757RYR1c.8476G>A (p.Ala2826Thr)
c.8473G>A (p.Ala2825Thr)
c.1928G>A
n.8559G>A
19g.38505881G>CCA405678759RYR1c.8476G>C (p.Ala2826Pro)
c.8473G>C (p.Ala2825Pro)
c.1928G>C
n.8559G>C
19g.38505881G>TCA405678760RYR1c.8476G>T (p.Ala2826Ser)
c.8473G>T (p.Ala2825Ser)
c.1928G>T
n.8559G>T
19g.38505882C>ACA405678761RYR1c.8477C>A (p.Ala2826Asp)
c.8474C>A (p.Ala2825Asp)
c.1929C>A
n.8560C>A
19g.38505882C>GCA405678762RYR1c.8477C>G (p.Ala2826Gly)
c.8474C>G (p.Ala2825Gly)
c.1929C>G
n.8560C>G
19g.38505882C>TCA405678764RYR1c.8477C>T (p.Ala2826Val)
c.8474C>T (p.Ala2825Val)
c.1929C>T
n.8560C>T
 gnomAD v4
19g.38505883C>ACA507245057RYR1c.8478C>A (p.Ala2826=)
c.8475C>A (p.Ala2825=)
c.1930C>A
n.8561C>A
19g.38505883C=CA2335056370RYR1c.8478C= (p.Ala2826=)
c.8475C= (p.Ala2825=)
c.1930C=
n.8561C=
19g.38505883C>GCA507245058RYR1c.8478C>G (p.Ala2826=)
c.8475C>G (p.Ala2825=)
c.1930C>G
n.8561C>G
19g.38505883C>TCA308117537RYR1c.8478C>T (p.Ala2826=)
c.8475C>T (p.Ala2825=)
c.1930C>T
n.8561C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38505884A>CCA507245059RYR1c.8479A>C (p.Arg2827=)
c.8476A>C (p.Arg2826=)
c.1931A>C
n.8562A>C
19g.38505884A>GCA405678767RYR1c.8479A>G (p.Arg2827Gly)
c.8476A>G (p.Arg2826Gly)
c.1931A>G
n.8562A>G
19g.38505884A>TCA405678766RYR1c.8479A>T (p.Arg2827Trp)
c.8476A>T (p.Arg2826Trp)
c.1931A>T
n.8562A>T
19g.38505885G>ACA405678769RYR1c.8480G>A (p.Arg2827Lys)
c.8477G>A (p.Arg2826Lys)
c.1932G>A
n.8563G>A
 gnomAD v4
19g.38505885G>CCA405678771RYR1c.8480G>C (p.Arg2827Thr)
c.8477G>C (p.Arg2826Thr)
c.1932G>C
n.8563G>C
19g.38505885G>TCA405678773RYR1c.8480G>T (p.Arg2827Met)
c.8477G>T (p.Arg2826Met)
c.1932G>T
n.8563G>T
19g.38505886G>ACA072087RYR1c.8481G>A (p.Arg2827=)
c.8478G>A (p.Arg2826=)
c.1933G>A
n.8564G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38505886G>CCA405678775RYR1c.8481G>C (p.Arg2827Ser)
c.8478G>C (p.Arg2826Ser)
c.1933G>C
n.8564G>C
19g.38505886G=CA2335056371RYR1c.8481G= (p.Arg2827=)
c.8478G= (p.Arg2826=)
c.1933G=
n.8564G=
19g.38505886G>TCA405678777RYR1c.8481G>T (p.Arg2827Ser)
c.8478G>T (p.Arg2826Ser)
c.1933G>T
n.8564G>T
19g.38505887G>ACA405678783RYR1c.8482G>A (p.Glu2828Lys)
c.8479G>A (p.Glu2827Lys)
c.1934G>A
n.8565G>A
 dbSNP
19g.38505887G>CCA405678780RYR1c.8482G>C (p.Glu2828Gln)
c.8479G>C (p.Glu2827Gln)
c.1934G>C
n.8565G>C
19g.38505887G=CA2335056372RYR1c.8482G= (p.Glu2828=)
c.8479G= (p.Glu2827=)
c.1934G=
n.8565G=
19g.38505887G>TCA405678781RYR1c.8482G>T (p.Glu2828Ter)
c.8479G>T (p.Glu2827Ter)
c.1934G>T
n.8565G>T
19g.38505888A=CA2335056373RYR1c.8483A= (p.Glu2828=)
c.8480A= (p.Glu2827=)
c.1935A=
n.8566A=
19g.38505888A>CCA405678784RYR1c.8483A>C (p.Glu2828Ala)
c.8480A>C (p.Glu2827Ala)
c.1935A>C
n.8566A>C
19g.38505888A>GCA405678785RYR1c.8483A>G (p.Glu2828Gly)
c.8480A>G (p.Glu2827Gly)
c.1935A>G
n.8566A>G
19g.38505888A>TCA308117547RYR1c.8483A>T (p.Glu2828Val)
c.8480A>T (p.Glu2827Val)
c.1935A>T
n.8566A>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38505889G>ACA083348RYR1c.8484G>A (p.Glu2828=)
c.8481G>A (p.Glu2827=)
c.1936G>A
n.8567G>A
19g.38505889G>CCA405678786RYR1c.8484G>C (p.Glu2828Asp)
c.8481G>C (p.Glu2827Asp)
c.1936G>C
n.8567G>C
19g.38505889G>TCA405678787RYR1c.8484G>T (p.Glu2828Asp)
c.8481G>T (p.Glu2827Asp)
c.1936G>T
n.8567G>T
19g.38505890G>ACA405678789RYR1c.8485G>A (p.Gly2829Ser)
c.8482G>A (p.Gly2828Ser)
c.1937G>A
n.8568G>A
19g.38505890G>CCA405678791RYR1c.8485G>C (p.Gly2829Arg)
c.8482G>C (p.Gly2828Arg)
c.1937G>C
n.8568G>C
19g.38505890G=CA2335056374RYR1c.8485G= (p.Gly2829=)
c.8482G= (p.Gly2828=)
c.1937G=
n.8568G=
19g.38505890G>TCA072090RYR1c.8485G>T (p.Gly2829Cys)
c.8482G>T (p.Gly2828Cys)
c.1937G>T
n.8568G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38505891G>ACA405678794RYR1c.8486G>A (p.Gly2829Asp)
c.8483G>A (p.Gly2828Asp)
c.1938G>A
n.8569G>A
19g.38505891G>CCA405678796RYR1c.8486G>C (p.Gly2829Ala)
c.8483G>C (p.Gly2828Ala)
c.1938G>C
n.8569G>C
19g.38505891G>TCA405678798RYR1c.8486G>T (p.Gly2829Val)
c.8483G>T (p.Gly2828Val)
c.1938G>T
n.8569G>T
 gnomAD v4
19g.38505892T>ACA507245061RYR1c.8487T>A (p.Gly2829=)
c.8484T>A (p.Gly2828=)
c.1939T>A
n.8570T>A
19g.38505892T>CCA507245062RYR1c.8487T>C (p.Gly2829=)
c.8484T>C (p.Gly2828=)
c.1939T>C
n.8570T>C
19g.38505892T>GCA507245063RYR1c.8487T>G (p.Gly2829=)
c.8484T>G (p.Gly2828=)
c.1939T>G
n.8570T>G
 dbSNP gnomAD v3 gnomAD v4
19g.38505892T=CA2335056376RYR1c.8487T= (p.Gly2829=)
c.8484T= (p.Gly2828=)
c.1939T=
n.8570T=
19g.38505892_38505895delinsTGAGCA2335056375RYR1c.8487_8490delinsTGAG (p.Gly2829=)
c.8484_8487delinsTGAG (p.Gly2828=)
c.1939_1942delinsTGAG
n.8570_8573delinsTGAG
19g.38505893G>ACA405678804RYR1c.8488G>A (p.Glu2830Lys)
c.8485G>A (p.Glu2829Lys)
c.1940G>A
n.8571G>A
 dbSNP gnomAD v2 gnomAD v4
19g.38505893G>CCA405678802RYR1c.8488G>C (p.Glu2830Gln)
c.8485G>C (p.Glu2829Gln)
c.1940G>C
n.8571G>C
19g.38505893G=CA2335056377RYR1c.8488G= (p.Glu2830=)
c.8485G= (p.Glu2829=)
c.1940G=
n.8571G=
19g.38505893G>TCA083352RYR1c.8488G>T (p.Glu2830Ter)
c.8485G>T (p.Glu2829Ter)
c.1940G>T
n.8571G>T
19g.38505899_38505901delCA308117556RYR1c.8494_8496del (p.Glu2832del)
c.8491_8493del (p.Glu2831del)
c.1946_1948del
n.8577_8579del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38505894A>CCA405678805RYR1c.8489A>C (p.Glu2830Ala)
c.8486A>C (p.Glu2829Ala)
c.1941A>C
n.8572A>C
19g.38505894A>GCA405678806RYR1c.8489A>G (p.Glu2830Gly)
c.8486A>G (p.Glu2829Gly)
c.1941A>G
n.8572A>G
19g.38505894A>TCA405678807RYR1c.8489A>T (p.Glu2830Val)
c.8486A>T (p.Glu2829Val)
c.1941A>T
n.8572A>T
19g.38505895G>ACA507245064RYR1c.8490G>A (p.Glu2830=)
c.8487G>A (p.Glu2829=)
c.1942G>A
n.8573G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38505895G>CCA405678809RYR1c.8490G>C (p.Glu2830Asp)
c.8487G>C (p.Glu2829Asp)
c.1942G>C
n.8573G>C
19g.38505895G=CA2335056378RYR1c.8490G= (p.Glu2830=)
c.8487G= (p.Glu2829=)
c.1942G=
n.8573G=
19g.38505895G>TCA405678811RYR1c.8490G>T (p.Glu2830Asp)
c.8487G>T (p.Glu2829Asp)
c.1942G>T
n.8573G>T
19g.38505896G>ACA405678812RYR1c.8491G>A (p.Glu2831Lys)
c.8488G>A (p.Glu2830Lys)
c.1943G>A
n.8574G>A
 gnomAD v4 COSMIC
19g.38505896G>CCA405678815RYR1c.8491G>C (p.Glu2831Gln)
c.8488G>C (p.Glu2830Gln)
c.1943G>C
n.8574G>C
19g.38505896G>TCA405678816RYR1c.8491G>T (p.Glu2831Ter)
c.8488G>T (p.Glu2830Ter)
c.1943G>T
n.8574G>T
19g.38505897A>CCA405678818RYR1c.8492A>C (p.Glu2831Ala)
c.8489A>C (p.Glu2830Ala)
c.1944A>C
n.8575A>C
19g.38505897A>GCA405678819RYR1c.8492A>G (p.Glu2831Gly)
c.8489A>G (p.Glu2830Gly)
c.1944A>G
n.8575A>G
19g.38505897A>TCA405678822RYR1c.8492A>T (p.Glu2831Val)
c.8489A>T (p.Glu2830Val)
c.1944A>T
n.8575A>T
19g.38505898G>ACA308117558RYR1c.8493G>A (p.Glu2831=)
c.8490G>A (p.Glu2830=)
c.1945G>A
n.8576G>A
 dbSNP gnomAD v4
19g.38505898G>CCA405678826RYR1c.8493G>C (p.Glu2831Asp)
c.8490G>C (p.Glu2830Asp)
c.1945G>C
n.8576G>C
19g.38505898G=CA2335056379RYR1c.8493G= (p.Glu2831=)
c.8490G= (p.Glu2830=)
c.1945G=
n.8576G=
19g.38505898G>TCA405678825RYR1c.8493G>T (p.Glu2831Asp)
c.8490G>T (p.Glu2830Asp)
c.1945G>T
n.8576G>T
19g.38505899G>ACA405678829RYR1c.8494G>A (p.Glu2832Lys)
c.8491G>A (p.Glu2831Lys)
c.1946G>A
n.8577G>A
19g.38505899G>CCA405678844RYR1c.8494G>C (p.Glu2832Gln)
c.8491G>C (p.Glu2831Gln)
c.1946G>C
n.8577G>C
19g.38505899G>TCA405678847RYR1c.8494G>T (p.Glu2832Ter)
c.8491G>T (p.Glu2831Ter)
c.1946G>T
n.8577G>T
19g.38505900A>CCA405678849RYR1c.8495A>C (p.Glu2832Ala)
c.8492A>C (p.Glu2831Ala)
c.1947A>C
n.8578A>C
19g.38505900A>GCA405678851RYR1c.8495A>G (p.Glu2832Gly)
c.8492A>G (p.Glu2831Gly)
c.1947A>G
n.8578A>G
19g.38505900A>TCA405678853RYR1c.8495A>T (p.Glu2832Val)
c.8492A>T (p.Glu2831Val)
c.1947A>T
n.8578A>T
19g.38505901G>ACA507245065RYR1c.8496G>A (p.Glu2832=)
c.8493G>A (p.Glu2831=)
c.1948G>A
n.8579G>A
 gnomAD v4
19g.38505901G>CCA405678855RYR1c.8496G>C (p.Glu2832Asp)
c.8493G>C (p.Glu2831Asp)
c.1948G>C
n.8579G>C
 gnomAD v4
19g.38505901G>TCA405678857RYR1c.8496G>T (p.Glu2832Asp)
c.8493G>T (p.Glu2831Asp)
c.1948G>T
n.8579G>T
19g.38505902A=CA2335056380RYR1c.8497A= (p.Lys2833=)
c.8494A= (p.Lys2832=)
c.1949A=
n.8580A=
19g.38505902A>CCA405678859RYR1c.8497A>C (p.Lys2833Gln)
c.8494A>C (p.Lys2832Gln)
c.1949A>C
n.8580A>C
19g.38505902A>GCA072094RYR1c.8497A>G (p.Lys2833Glu)
c.8494A>G (p.Lys2832Glu)
c.1949A>G
n.8580A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38505902A>TCA308117563RYR1c.8497A>T (p.Lys2833Ter)
c.8494A>T (p.Lys2832Ter)
c.1949A>T
n.8580A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38505906_38505914delCA2584901897RYR1c.8501_8509del (p.Thr2834_Lys2836del)
c.8498_8506del (p.Thr2833_Lys2835del)
c.1953_1961del
n.8584_8592del
 gnomAD v4
19g.38505903A>CCA405678867RYR1c.8498A>C (p.Lys2833Thr)
c.8495A>C (p.Lys2832Thr)
c.1950A>C
n.8581A>C
19g.38505903A>GCA405678865RYR1c.8498A>G (p.Lys2833Arg)
c.8495A>G (p.Lys2832Arg)
c.1950A>G
n.8581A>G
19g.38505903A>TCA405678864RYR1c.8498A>T (p.Lys2833Met)
c.8495A>T (p.Lys2832Met)
c.1950A>T
n.8581A>T
19g.38505904G>ACA507245067RYR1c.8499G>A (p.Lys2833=)
c.8496G>A (p.Lys2832=)
c.1951G>A
n.8582G>A
19g.38505904G>CCA405678868RYR1c.8499G>C (p.Lys2833Asn)
c.8496G>C (p.Lys2832Asn)
c.1951G>C
n.8582G>C
19g.38505904G>TCA405678870RYR1c.8499G>T (p.Lys2833Asn)
c.8496G>T (p.Lys2832Asn)
c.1951G>T
n.8582G>T
19g.38505905A=CA2335056381RYR1c.8500A= (p.Thr2834=)
c.8497A= (p.Thr2833=)
c.1952A=
n.8583A=
19g.38505905A>CCA405678872RYR1c.8500A>C (p.Thr2834Pro)
c.8497A>C (p.Thr2833Pro)
c.1952A>C
n.8583A>C
19g.38505905A>GCA083354RYR1c.8500A>G (p.Thr2834Ala)
c.8497A>G (p.Thr2833Ala)
c.1952A>G
n.8583A>G
 dbSNP
19g.38505905A>TCA405678874RYR1c.8500A>T (p.Thr2834Ser)
c.8497A>T (p.Thr2833Ser)
c.1952A>T
n.8583A>T
19g.38505906C>ACA405678876RYR1c.8501C>A (p.Thr2834Lys)
c.8498C>A (p.Thr2833Lys)
c.1953C>A
n.8584C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38505906C=CA2335056382RYR1c.8501C= (p.Thr2834=)
c.8498C= (p.Thr2833=)
c.1953C=
n.8584C=
19g.38505906C>GCA072110RYR1c.8501C>G (p.Thr2834Arg)
c.8498C>G (p.Thr2833Arg)
c.1953C>G
n.8584C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38505906C>TCA072119RYR1c.8501C>T (p.Thr2834Met)
c.8498C>T (p.Thr2833Met)
c.1953C>T
n.8584C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38505907G>ACA072125RYR1c.8502G>A (p.Thr2834=)
c.8499G>A (p.Thr2833=)
c.1954G>A
n.8585G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38505907G>CCA507245069RYR1c.8502G>C (p.Thr2834=)
c.8499G>C (p.Thr2833=)
c.1954G>C
n.8585G>C
 gnomAD v4
19g.38505907G=CA2335056383RYR1c.8502G= (p.Thr2834=)
c.8499G= (p.Thr2833=)
c.1954G=
n.8585G=
19g.38505907G>TCA507245068RYR1c.8502G>T (p.Thr2834=)
c.8499G>T (p.Thr2833=)
c.1954G>T
n.8585G>T
19g.38505908G>ACA405678882RYR1c.8503G>A (p.Glu2835Lys)
c.8500G>A (p.Glu2834Lys)
c.1955G>A
n.8586G>A
 COSMIC
19g.38505908G>CCA405678886RYR1c.8503G>C (p.Glu2835Gln)
c.8500G>C (p.Glu2834Gln)
c.1955G>C
n.8586G>C
19g.38505908G>TCA405678888RYR1c.8503G>T (p.Glu2835Ter)
c.8500G>T (p.Glu2834Ter)
c.1955G>T
n.8586G>T
19g.38505909A>CCA405678890RYR1c.8504A>C (p.Glu2835Ala)
c.8501A>C (p.Glu2834Ala)
c.1956A>C
n.8587A>C
19g.38505909A>GCA405678891RYR1c.8504A>G (p.Glu2835Gly)
c.8501A>G (p.Glu2834Gly)
c.1956A>G
n.8587A>G
19g.38505909A>TCA405678893RYR1c.8504A>T (p.Glu2835Val)
c.8501A>T (p.Glu2834Val)
c.1956A>T
n.8587A>T
19g.38505910A=CA2335056384RYR1c.8505A= (p.Glu2835=)
c.8502A= (p.Glu2834=)
c.1957A=
n.8588A=
19g.38505910A>CCA405678896RYR1c.8505A>C (p.Glu2835Asp)
c.8502A>C (p.Glu2834Asp)
c.1957A>C
n.8588A>C
19g.38505910A>GCA507245070RYR1c.8505A>G (p.Glu2835=)
c.8502A>G (p.Glu2834=)
c.1957A>G
n.8588A>G
 dbSNP
19g.38505910A>TCA024923RYR1c.8505A>T (p.Glu2835Asp)
c.8502A>T (p.Glu2834Asp)
c.1957A>T
n.8588A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38505911A>CCA405678900RYR1c.8506A>C (p.Lys2836Gln)
c.8503A>C (p.Lys2835Gln)
c.1958A>C
n.8589A>C
19g.38505911A>GCA405678901RYR1c.8506A>G (p.Lys2836Glu)
c.8503A>G (p.Lys2835Glu)
c.1958A>G
n.8589A>G
19g.38505911A>TCA405678902RYR1c.8506A>T (p.Lys2836Ter)
c.8503A>T (p.Lys2835Ter)
c.1958A>T
n.8589A>T
19g.38505912A=CA2335056385RYR1c.8507A= (p.Lys2836=)
c.8504A= (p.Lys2835=)
c.1959A=
n.8590A=
19g.38505912A>CCA405678904RYR1c.8507A>C (p.Lys2836Thr)
c.8504A>C (p.Lys2835Thr)
c.1959A>C
n.8590A>C
 dbSNP gnomAD v3 gnomAD v4
19g.38505912A>GCA405678905RYR1c.8507A>G (p.Lys2836Arg)
c.8504A>G (p.Lys2835Arg)
c.1959A>G
n.8590A>G
19g.38505912A>TCA405678911RYR1c.8507A>T (p.Lys2836Met)
c.8504A>T (p.Lys2835Met)
c.1959A>T
n.8590A>T
19g.38505913G>ACA072134RYR1c.8508G>A (p.Lys2836=)
c.8505G>A (p.Lys2835=)
c.1960G>A
n.8591G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38505913G>CCA405678915RYR1c.8508G>C (p.Lys2836Asn)
c.8505G>C (p.Lys2835Asn)
c.1960G>C
n.8591G>C
19g.38505913G=CA2335056386RYR1c.8508G= (p.Lys2836=)
c.8505G= (p.Lys2835=)
c.1960G=
n.8591G=
19g.38505913G>TCA405678917RYR1c.8508G>T (p.Lys2836Asn)
c.8505G>T (p.Lys2835Asn)
c.1960G>T
n.8591G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.38505914A=CA2335056387RYR1c.8509A= (p.Lys2837=)
c.8506A= (p.Lys2836=)
c.1961A=
n.8592A=
19g.38505914A>CCA405678920RYR1c.8509A>C (p.Lys2837Gln)
c.8506A>C (p.Lys2836Gln)
c.1961A>C
n.8592A>C
19g.38505914A>GCA405678922RYR1c.8509A>G (p.Lys2837Glu)
c.8506A>G (p.Lys2836Glu)
c.1961A>G
n.8592A>G
 ClinVar dbSNP
19g.38505914A>TCA405678925RYR1c.8509A>T (p.Lys2837Ter)
c.8506A>T (p.Lys2836Ter)
c.1961A>T
n.8592A>T
19g.38505920dupCA632875455RYR1c.8515dup (p.Thr2839AsnfsTer12)
c.8512dup (p.Thr2838AsnfsTer12)
c.1967dup
n.8598dup
 dbSNP gnomAD v2
19g.38505920delCA507245073RYR1c.8515del (p.Thr2839ArgfsTer?)
c.8512del (p.Thr2838ArgfsTer?)
c.1967del
n.8598del
 COSMIC
19g.38505915A>CCA405678928RYR1c.8510A>C (p.Lys2837Thr)
c.8507A>C (p.Lys2836Thr)
c.1962A>C
n.8593A>C
19g.38505915A>GCA405678933RYR1c.8510A>G (p.Lys2837Arg)
c.8507A>G (p.Lys2836Arg)
c.1962A>G
n.8593A>G
 gnomAD v4
19g.38505915A>TCA405678931RYR1c.8510A>T (p.Lys2837Ile)
c.8507A>T (p.Lys2836Ile)
c.1962A>T
n.8593A>T
19g.38505916A>CCA405678935RYR1c.8511A>C (p.Lys2837Asn)
c.8508A>C (p.Lys2836Asn)
c.1963A>C
n.8594A>C
19g.38505916A>GCA507245075RYR1c.8511A>G (p.Lys2837=)
c.8508A>G (p.Lys2836=)
c.1963A>G
n.8594A>G
 ClinVar
19g.38505916A>TCA405678937RYR1c.8511A>T (p.Lys2837Asn)
c.8508A>T (p.Lys2836Asn)
c.1963A>T
n.8594A>T
19g.38505917A>CCA405678941RYR1c.8512A>C (p.Lys2838Gln)
c.8509A>C (p.Lys2837Gln)
c.1964A>C
n.8595A>C
19g.38505917A>GCA405678943RYR1c.8512A>G (p.Lys2838Glu)
c.8509A>G (p.Lys2837Glu)
c.1964A>G
n.8595A>G
 gnomAD v4
19g.38505917A>TCA405678946RYR1c.8512A>T (p.Lys2838Ter)
c.8509A>T (p.Lys2837Ter)
c.1964A>T
n.8595A>T
19g.38505917_38505918insCCAAACACACCCAACACCA2814347664RYR1c.8512_8513insCCAAACACACCCAACAC (p.Lys2838ThrfsTer?)
c.8509_8510insCCAAACACACCCAACAC (p.Lys2837ThrfsTer?)
c.1964_1965insCCAAACACACCCAACAC
n.8595_8596insCCAAACACACCCAACAC
19g.38505918A>CCA405678949RYR1c.8513A>C (p.Lys2838Thr)
c.8510A>C (p.Lys2837Thr)
c.1965A>C
n.8596A>C
19g.38505918A>GCA405678950RYR1c.8513A>G (p.Lys2838Arg)
c.8510A>G (p.Lys2837Arg)
c.1965A>G
n.8596A>G
19g.38505918A>TCA405678952RYR1c.8513A>T (p.Lys2838Ile)
c.8510A>T (p.Lys2837Ile)
c.1965A>T
n.8596A>T
19g.38505919A=CA2335056388RYR1c.8514A= (p.Lys2838=)
c.8511A= (p.Lys2837=)
c.1966A=
n.8597A=
19g.38505919A>CCA072142RYR1c.8514A>C (p.Lys2838Asn)
c.8511A>C (p.Lys2837Asn)
c.1966A>C
n.8597A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38505919A>GCA507245077RYR1c.8514A>G (p.Lys2838=)
c.8511A>G (p.Lys2837=)
c.1966A>G
n.8597A>G
 ClinVar
19g.38505919A>TCA405678955RYR1c.8514A>T (p.Lys2838Asn)
c.8511A>T (p.Lys2837Asn)
c.1966A>T
n.8597A>T
19g.38505921_38505927delCA2584901898RYR1c.8516_8522del (p.Thr2839ArgfsTer?)
c.8513_8519del (p.Thr2838ArgfsTer?)
c.1968_1974del
n.8599_8605del
 gnomAD v4
19g.38505920A>CCA405678958RYR1c.8515A>C (p.Thr2839Pro)
c.8512A>C (p.Thr2838Pro)
c.1967A>C
n.8598A>C
19g.38505920A>GCA405678962RYR1c.8515A>G (p.Thr2839Ala)
c.8512A>G (p.Thr2838Ala)
c.1967A>G
n.8598A>G
19g.38505920A>TCA405678964RYR1c.8515A>T (p.Thr2839Ser)
c.8512A>T (p.Thr2838Ser)
c.1967A>T
n.8598A>T
19g.38505921C>ACA072146RYR1c.8516C>A (p.Thr2839Lys)
c.8513C>A (p.Thr2838Lys)
c.1968C>A
n.8599C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38505921C=CA2335056389RYR1c.8516C= (p.Thr2839=)
c.8513C= (p.Thr2838=)
c.1968C=
n.8599C=
19g.38505921C>GCA405678968RYR1c.8516C>G (p.Thr2839Arg)
c.8513C>G (p.Thr2838Arg)
c.1968C>G
n.8599C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38505921C>TCA072152RYR1c.8516C>T (p.Thr2839Met)
c.8513C>T (p.Thr2838Met)
c.1968C>T
n.8599C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38505922G>ACA072158RYR1c.8517G>A (p.Thr2839=)
c.8514G>A (p.Thr2838=)
c.1969G>A
n.8600G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38505922G>CCA507245079RYR1c.8517G>C (p.Thr2839=)
c.8514G>C (p.Thr2838=)
c.1969G>C
n.8600G>C
19g.38505922G=CA2335056390RYR1c.8517G= (p.Thr2839=)
c.8514G= (p.Thr2838=)
c.1969G=
n.8600G=
19g.38505922G>TCA308117627RYR1c.8517G>T (p.Thr2839=)
c.8514G>T (p.Thr2838=)
c.1969G>T
n.8600G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38505923C>ACA507245081RYR1c.8518C>A (p.Arg2840=)
c.8515C>A (p.Arg2839=)
c.1970C>A
n.8601C>A
19g.38505923C=CA2335056391RYR1c.8518C= (p.Arg2840=)
c.8515C= (p.Arg2839=)
c.1970C=
n.8601C=
19g.38505923C>GCA405678973RYR1c.8518C>G (p.Arg2840Gly)
c.8515C>G (p.Arg2839Gly)
c.1970C>G
n.8601C>G
 dbSNP gnomAD v4
19g.38505923C>TCA024925RYR1c.8518C>T (p.Arg2840Trp)
c.8515C>T (p.Arg2839Trp)
c.1970C>T
n.8601C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38505924G>ACA308117632RYR1c.8519G>A (p.Arg2840Gln)
c.8516G>A (p.Arg2839Gln)
c.1971G>A
n.8602G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38505924G>CCA405678985RYR1c.8519G>C (p.Arg2840Pro)
c.8516G>C (p.Arg2839Pro)
c.1971G>C
n.8602G>C
19g.38505924G=CA2335056392RYR1c.8519G= (p.Arg2840=)
c.8516G= (p.Arg2839=)
c.1971G=
n.8602G=
19g.38505924G>TCA405678987RYR1c.8519G>T (p.Arg2840Leu)
c.8516G>T (p.Arg2839Leu)
c.1971G>T
n.8602G>T
 gnomAD v4
19g.38505925G>ACA083378RYR1c.8520G>A (p.Arg2840=)
c.8517G>A (p.Arg2839=)
c.1972G>A
n.8603G>A
19g.38505925G>CCA507245083RYR1c.8520G>C (p.Arg2840=)
c.8517G>C (p.Arg2839=)
c.1972G>C
n.8603G>C
19g.38505925G>TCA507245084RYR1c.8520G>T (p.Arg2840=)
c.8517G>T (p.Arg2839=)
c.1972G>T
n.8603G>T
19g.38505925_38505931delinsGAAGATACA2335056393RYR1c.8520_8526delinsGAAGATA (p.Arg2840=)
c.8517_8523delinsGAAGATA (p.Arg2839=)
c.1972_1978delinsGAAGATA
n.8603_8609delinsGAAGATA
19g.38505926A=CA2335056394RYR1c.8521A= (p.Lys2841=)
c.8518A= (p.Lys2840=)
c.1973A=
n.8604A=
19g.38505926A>CCA405678992RYR1c.8521A>C (p.Lys2841Gln)
c.8518A>C (p.Lys2840Gln)
c.1973A>C
n.8604A>C
 dbSNP gnomAD v2 gnomAD v4
19g.38505926A>GCA405678994RYR1c.8521A>G (p.Lys2841Glu)
c.8518A>G (p.Lys2840Glu)
c.1973A>G
n.8604A>G
 dbSNP gnomAD v2 gnomAD v4
19g.38505926A>TCA405678997RYR1c.8521A>T (p.Lys2841Ter)
c.8518A>T (p.Lys2840Ter)
c.1973A>T
n.8604A>T
19g.38505926_38505931delCA308117643RYR1c.8521_8526del (p.Lys2841_Ile2842del)
c.8518_8523del (p.Lys2840_Ile2841del)
c.1973_1978del
n.8604_8609del
 dbSNP
19g.38505927A>CCA405679015RYR1c.8522A>C (p.Lys2841Thr)
c.8519A>C (p.Lys2840Thr)
c.1974A>C
n.8605A>C
19g.38505927A>GCA405679017RYR1c.8522A>G (p.Lys2841Arg)
c.8519A>G (p.Lys2840Arg)
c.1974A>G
n.8605A>G
 COSMIC
19g.38505927A>TCA405679012RYR1c.8522A>T (p.Lys2841Met)
c.8519A>T (p.Lys2840Met)
c.1974A>T
n.8605A>T
19g.38505928G>ACA507245088RYR1c.8523G>A (p.Lys2841=)
c.8520G>A (p.Lys2840=)
c.1975G>A
n.8606G>A
19g.38505928G>CCA405679030RYR1c.8523G>C (p.Lys2841Asn)
c.8520G>C (p.Lys2840Asn)
c.1975G>C
n.8606G>C
19g.38505928G>TCA405679027RYR1c.8523G>T (p.Lys2841Asn)
c.8520G>T (p.Lys2840Asn)
c.1975G>T
n.8606G>T
19g.38505929A>CCA405679032RYR1c.8524A>C (p.Ile2842Leu)
c.8521A>C (p.Ile2841Leu)
c.1976A>C
n.8607A>C
19g.38505929A>GCA405679033RYR1c.8524A>G (p.Ile2842Val)
c.8521A>G (p.Ile2841Val)
c.1976A>G
n.8607A>G
 gnomAD v4
19g.38505929A>TCA405679034RYR1c.8524A>T (p.Ile2842Leu)
c.8521A>T (p.Ile2841Leu)
c.1976A>T
n.8607A>T
19g.38505929_38505930insCACCCA2814347673RYR1c.8524_8525insCACC (p.Ile2842ThrfsTer10)
c.8521_8522insCACC (p.Ile2841ThrfsTer10)
c.1976_1977insCACC
n.8607_8608insCACC
19g.38505929_38505930insAACCAACCAAACACACCCA2814347672RYR1c.8524_8525insAACCAACCAAACACACC (p.Ile2842LysfsTer?)
c.8521_8522insAACCAACCAAACACACC (p.Ile2841LysfsTer?)
c.1976_1977insAACCAACCAAACACACC
n.8607_8608insAACCAACCAAACACACC
19g.38505930T>ACA405679035RYR1c.8525T>A (p.Ile2842Lys)
c.8522T>A (p.Ile2841Lys)
c.1977T>A
n.8608T>A
19g.38505930T>CCA405679036RYR1c.8525T>C (p.Ile2842Thr)
c.8522T>C (p.Ile2841Thr)
c.1977T>C
n.8608T>C
 COSMIC
19g.38505930T>GCA405679037RYR1c.8525T>G (p.Ile2842Arg)
c.8522T>G (p.Ile2841Arg)
c.1977T>G
n.8608T>G
19g.38505931A=CA2335056395RYR1c.8526A= (p.Ile2842=)
c.8523A= (p.Ile2841=)
c.1978A=
n.8609A=
19g.38505931A>CCA507245092RYR1c.8526A>C (p.Ile2842=)
c.8523A>C (p.Ile2841=)
c.1978A>C
n.8609A>C
19g.38505931A>GCA072166RYR1c.8526A>G (p.Ile2842Met)
c.8523A>G (p.Ile2841Met)
c.1978A>G
n.8609A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38505931A>TCA507245093RYR1c.8526A>T (p.Ile2842=)
c.8523A>T (p.Ile2841=)
c.1978A>T
n.8609A>T
19g.38505932_38505936delCA2573156307RYR1c.8527_8531del (p.Ser2843LysfsTer6)
c.8524_8528del (p.Ser2842LysfsTer6)
c.1979_1983del
n.8610_8614del
 dbSNP
19g.38505932T>ACA405679038RYR1c.8527T>A (p.Ser2843Thr)
c.8524T>A (p.Ser2842Thr)
c.1979T>A
n.8610T>A
19g.38505932T>CCA072168RYR1c.8527T>C (p.Ser2843Pro)
c.8524T>C (p.Ser2842Pro)
c.1979T>C
n.8610T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38505932T>GCA405679043RYR1c.8527T>G (p.Ser2843Ala)
c.8524T>G (p.Ser2842Ala)
c.1979T>G
n.8610T>G
19g.38505932T=CA2335056396RYR1c.8527T= (p.Ser2843=)
c.8524T= (p.Ser2842=)
c.1979T=
n.8610T=
19g.38505933C>ACA405679046RYR1c.8528C>A (p.Ser2843Ter)
c.8525C>A (p.Ser2842Ter)
c.1980C>A
n.8611C>A
19g.38505933C>GCA405679049RYR1c.8528C>G (p.Ser2843Ter)
c.8525C>G (p.Ser2842Ter)
c.1980C>G
n.8611C>G
19g.38505933C>TCA405679050RYR1c.8528C>T (p.Ser2843Leu)
c.8525C>T (p.Ser2842Leu)
c.1980C>T
n.8611C>T
 gnomAD v4
19g.38505934A>CCA507245096RYR1c.8529A>C (p.Ser2843=)
c.8526A>C (p.Ser2842=)
c.1981A>C
n.8612A>C
 gnomAD v4
19g.38505934A>GCA083381RYR1c.8529A>G (p.Ser2843=)
c.8526A>G (p.Ser2842=)
c.1981A>G
n.8612A>G
19g.38505934A>TCA507245098RYR1c.8529A>T (p.Ser2843=)
c.8526A>T (p.Ser2842=)
c.1981A>T
n.8612A>T
19g.38505935C>ACA405679065RYR1c.8530C>A (p.Gln2844Lys)
c.8527C>A (p.Gln2843Lys)
c.1982C>A
n.8613C>A
19g.38505935C>GCA405679052RYR1c.8530C>G (p.Gln2844Glu)
c.8527C>G (p.Gln2843Glu)
c.1982C>G
n.8613C>G
19g.38505935C>TCA405679062RYR1c.8530C>T (p.Gln2844Ter)
c.8527C>T (p.Gln2843Ter)
c.1982C>T
n.8613C>T
 ClinVar dbSNP gnomAD v4
19g.38505936A=CA2335056397RYR1c.8531A= (p.Gln2844=)
c.8528A= (p.Gln2843=)
c.1983A=
n.8614A=
19g.38505936A>CCA405679067RYR1c.8531A>C (p.Gln2844Pro)
c.8528A>C (p.Gln2843Pro)
c.1983A>C
n.8614A>C
19g.38505936A>GCA405679069RYR1c.8531A>G (p.Gln2844Arg)
c.8528A>G (p.Gln2843Arg)
c.1983A>G
n.8614A>G
 dbSNP gnomAD v4
19g.38505936A>TCA405679070RYR1c.8531A>T (p.Gln2844Leu)
c.8528A>T (p.Gln2843Leu)
c.1983A>T
n.8614A>T
 COSMIC
19g.38505937A=CA2335056398RYR1c.8532A= (p.Gln2844=)
c.8529A= (p.Gln2843=)
c.1984A=
n.8615A=
19g.38505937A>CCA405679072RYR1c.8532A>C (p.Gln2844His)
c.8529A>C (p.Gln2843His)
c.1984A>C
n.8615A>C
19g.38505937A>GCA308117654RYR1c.8532A>G (p.Gln2844=)
c.8529A>G (p.Gln2843=)
c.1984A>G
n.8615A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38505937A>TCA405679074RYR1c.8532A>T (p.Gln2844His)
c.8529A>T (p.Gln2843His)
c.1984A>T
n.8615A>T
19g.38505938A>CCA405679075RYR1c.8533A>C (p.Ser2845Arg)
c.8530A>C (p.Ser2844Arg)
c.1985A>C
n.8616A>C
19g.38505938A>GCA405679077RYR1c.8533A>G (p.Ser2845Gly)
c.8530A>G (p.Ser2844Gly)
c.1985A>G
n.8616A>G
19g.38505938A>TCA405679078RYR1c.8533A>T (p.Ser2845Cys)
c.8530A>T (p.Ser2844Cys)
c.1985A>T
n.8616A>T
19g.38505939G>ACA405679079RYR1c.8534G>A (p.Ser2845Asn)
c.8531G>A (p.Ser2844Asn)
c.1986G>A
n.8617G>A
19g.38505939G>CCA405679081RYR1c.8534G>C (p.Ser2845Thr)
c.8531G>C (p.Ser2844Thr)
c.1986G>C
n.8617G>C
 gnomAD v4
19g.38505939G>TCA405679082RYR1c.8534G>T (p.Ser2845Ile)
c.8531G>T (p.Ser2844Ile)
c.1986G>T
n.8617G>T
19g.38505939_38505940insACA2814347676RYR1c.8534_8535insA (p.Ser2845ArgfsTer6)
c.8531_8532insA (p.Ser2844ArgfsTer6)
c.1986_1987insA
n.8617_8618insA
19g.38505940T>ACA405679084RYR1c.8535T>A (p.Ser2845Arg)
c.8532T>A (p.Ser2844Arg)
c.1987T>A
n.8618T>A
19g.38505940T>CCA507245103RYR1c.8535T>C (p.Ser2845=)
c.8532T>C (p.Ser2844=)
c.1987T>C
n.8618T>C
 ClinVar gnomAD v4
19g.38505940T>GCA405679086RYR1c.8535T>G (p.Ser2845Arg)
c.8532T>G (p.Ser2844Arg)
c.1987T>G
n.8618T>G
 gnomAD v4
19g.38505940_38505941insATCACAAACA2814347677RYR1c.8535_8536insATCACAAA (p.Ala2846IlefsTer?)
c.8532_8533insATCACAAA (p.Ala2845IlefsTer?)
c.1987_1988insATCACAAA
n.8618_8619insATCACAAA
19g.38505941G>ACA405679087RYR1c.8536G>A (p.Ala2846Thr)
c.8533G>A (p.Ala2845Thr)
c.1988G>A
n.8619G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38505941G>CCA405679089RYR1c.8536G>C (p.Ala2846Pro)
c.8533G>C (p.Ala2845Pro)
c.1988G>C
n.8619G>C
19g.38505941G=CA2335056399RYR1c.8536G= (p.Ala2846=)
c.8533G= (p.Ala2845=)
c.1988G=
n.8619G=
19g.38505941G>TCA405679088RYR1c.8536G>T (p.Ala2846Ser)
c.8533G>T (p.Ala2845Ser)
c.1988G>T
n.8619G>T
 gnomAD v4
19g.38505941_38505942insATATCACA2814347678RYR1c.8536_8537insATATCA (p.Ala2846delinsAspIleThr)
c.8533_8534insATATCA (p.Ala2845delinsAspIleThr)
c.1988_1989insATATCA
n.8619_8620insATATCA
19g.38505942C>ACA405679091RYR1c.8537C>A (p.Ala2846Asp)
c.8534C>A (p.Ala2845Asp)
c.1989C>A
n.8620C>A
19g.38505942C>GCA405679093RYR1c.8537C>G (p.Ala2846Gly)
c.8534C>G (p.Ala2845Gly)
c.1989C>G
n.8620C>G
19g.38505942C>TCA405679096RYR1c.8537C>T (p.Ala2846Val)
c.8534C>T (p.Ala2845Val)
c.1989C>T
n.8620C>T
19g.38505943C>ACA507245108RYR1c.8538C>A (p.Ala2846=)
c.8535C>A (p.Ala2845=)
c.1990C>A
n.8621C>A
19g.38505943C=CA2335056400RYR1c.8538C= (p.Ala2846=)
c.8535C= (p.Ala2845=)
c.1990C=
n.8621C=
19g.38505943C>GCA507245109RYR1c.8538C>G (p.Ala2846=)
c.8535C>G (p.Ala2845=)
c.1990C>G
n.8621C>G
19g.38505943C>TCA507245110RYR1c.8538C>T (p.Ala2846=)
c.8535C>T (p.Ala2845=)
c.1990C>T
n.8621C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38505944C>ACA405679098RYR1c.8539C>A (p.Gln2847Lys)
c.8536C>A (p.Gln2846Lys)
c.1991C>A
n.8622C>A
19g.38505944C=CA2335056401RYR1c.8539C= (p.Gln2847=)
c.8536C= (p.Gln2846=)
c.1991C=
n.8622C=
19g.38505944C>GCA405679100RYR1c.8539C>G (p.Gln2847Glu)
c.8536C>G (p.Gln2846Glu)
c.1991C>G
n.8622C>G
 ClinVar dbSNP gnomAD v4
19g.38505944C>TCA405679101RYR1c.8539C>T (p.Gln2847Ter)
c.8536C>T (p.Gln2846Ter)
c.1991C>T
n.8622C>T
19g.38505944_38505965delCA2499225472RYR1c.8539_8541+19del
c.8536_8538+19del
c.1991_1993+19del
n.8622_8624+19del
 ClinVar dbSNP
19g.38505945A>CCA405679106RYR1c.8540A>C (p.Gln2847Pro)
c.8537A>C (p.Gln2846Pro)
c.1992A>C
n.8623A>C
 gnomAD v4
19g.38505945A>GCA405679103RYR1c.8540A>G (p.Gln2847Arg)
c.8537A>G (p.Gln2846Arg)
c.1992A>G
n.8623A>G
 gnomAD v4
19g.38505945A>TCA405679105RYR1c.8540A>T (p.Gln2847Leu)
c.8537A>T (p.Gln2846Leu)
c.1992A>T
n.8623A>T
19g.38505946G>ACA507245113RYR1c.8541G>A (p.Gln2847=)
c.8538G>A (p.Gln2846=)
c.1993G>A
n.8624G>A
19g.38505946G>CCA405679108RYR1c.8541G>C (p.Gln2847His)
c.8538G>C (p.Gln2846His)
c.1993G>C
n.8624G>C
19g.38505946G>TCA405679110RYR1c.8541G>T (p.Gln2847His)
c.8538G>T (p.Gln2846His)
c.1993G>T
n.8624G>T
19g.38505947delCA2580097237RYR1c.8541+1del
c.8538+1del
c.1993+1del
n.8624+1del
 ClinVar
19g.38505946_38505947insCCTTCACCTGGGCACTTTCA2584901899RYR1c.8541_8541+1insCCTTCACCTGGGCACTTT (n.8541_8541+1insCCTTCACCTGGGCACTTT)
c.8538_8538+1insCCTTCACCTGGGCACTTT (n.8538_8538+1insCCTTCACCTGGGCACTTT)
c.1993_1993+1insCCTTCACCTGGGCACTTT
n.8624_8624+1insCCTTCACCTGGGCACTTT
 gnomAD v4
19g.38505947G>ACA308117670RYR1c.8541+1G>A (n.8541+1G>A)
c.8538+1G>A (n.8538+1G>A)
c.1993+1G>A
n.8624+1G>A
 dbSNP
19g.38505947G>CCA405679112RYR1c.8541+1G>C (n.8541+1G>C)
c.8538+1G>C (n.8538+1G>C)
c.1993+1G>C
n.8624+1G>C
19g.38505947G=CA2335056402RYR1c.8541+1G= (n.8541+1G=)
c.8538+1G= (n.8538+1G=)
c.1993+1G=
n.8624+1G=
19g.38505947G>TCA405679114RYR1c.8541+1G>T (n.8541+1G>T)
c.8538+1G>T (n.8538+1G>T)
c.1993+1G>T
n.8624+1G>T
19g.38505948T>ACA405679116RYR1c.8541+2T>A (n.8541+2T>A)
c.8538+2T>A (n.8538+2T>A)
c.1993+2T>A
n.8624+2T>A
19g.38505948T>CCA308117675RYR1c.8541+2T>C (n.8541+2T>C)
c.8538+2T>C (n.8538+2T>C)
c.1993+2T>C
n.8624+2T>C
 dbSNP
19g.38505948T>GCA405679118RYR1c.8541+2T>G (n.8541+2T>G)
c.8538+2T>G (n.8538+2T>G)
c.1993+2T>G
n.8624+2T>G
 gnomAD v3 gnomAD v4
19g.38505948T=CA2335056403RYR1c.8541+2T= (n.8541+2T=)
c.8538+2T= (n.8538+2T=)
c.1993+2T=
n.8624+2T=
19g.38505949G>ACA072233RYR1c.8541+3G>A (n.8541+3G>A)
c.8538+3G>A (n.8538+3G>A)
c.1993+3G>A
n.8624+3G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38505949G=CA2335056404RYR1c.8541+3G= (n.8541+3G=)
c.8538+3G= (n.8538+3G=)
c.1993+3G=
n.8624+3G=
19g.38505951A>TCA2582145406RYR1c.8541+5A>T (n.8541+5A>T)
c.8538+5A>T (n.8538+5A>T)
c.1993+5A>T
n.8624+5A>T
 gnomAD v3 gnomAD v4
19g.38505952G>ACA2576771275RYR1c.8541+6G>A (n.8541+6G>A)
c.8538+6G>A (n.8538+6G>A)
c.1993+6G>A
n.8624+6G>A
19g.38505952G>TCA2529491916RYR1c.8541+6G>T (n.8541+6G>T)
c.8538+6G>T (n.8538+6G>T)
c.1993+6G>T
n.8624+6G>T
19g.38505953G>ACA995725164RYR1c.8541+7G>A (n.8541+7G>A)
c.8538+7G>A (n.8538+7G>A)
c.1993+7G>A
n.8624+7G>A
 dbSNP gnomAD v3 gnomAD v4
19g.38505953G=CA2335056405RYR1c.8541+7G= (n.8541+7G=)
c.8538+7G= (n.8538+7G=)
c.1993+7G=
n.8624+7G=
19g.38505954C=CA2335056406RYR1c.8541+8C= (n.8541+8C=)
c.8538+8C= (n.8538+8C=)
c.1993+8C=
n.8624+8C=
19g.38505954C>GCA995725173RYR1c.8541+8C>G (n.8541+8C>G)
c.8538+8C>G (n.8538+8C>G)
c.1993+8C>G
n.8624+8C>G
 gnomAD v3 gnomAD v4
19g.38505954C>TCA632875456RYR1c.8541+8C>T (n.8541+8C>T)
c.8538+8C>T (n.8538+8C>T)
c.1993+8C>T
n.8624+8C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38505955G>ACA072257RYR1c.8541+9G>A (n.8541+9G>A)
c.8538+9G>A (n.8538+9G>A)
c.1993+9G>A
n.8624+9G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38505955G>CCA882056978RYR1c.8541+9G>C (n.8541+9G>C)
c.8538+9G>C (n.8538+9G>C)
c.1993+9G>C
n.8624+9G>C
 dbSNP
19g.38505955G=CA2335056407RYR1c.8541+9G= (n.8541+9G=)
c.8538+9G= (n.8538+9G=)
c.1993+9G=
n.8624+9G=
19g.38505958delCA2584901900RYR1c.8541+12del (n.8541+12del)
c.8538+12del (n.8538+12del)
c.1993+12del
n.8624+12del
 gnomAD v4
19g.38505958G>ACA2584901901RYR1c.8541+12G>A (n.8541+12G>A)
c.8538+12G>A (n.8538+12G>A)
c.1993+12G>A
n.8624+12G>A
 gnomAD v4
19g.38505958G>CCA2584901902RYR1c.8541+12G>C (n.8541+12G>C)
c.8538+12G>C (n.8538+12G>C)
c.1993+12G>C
n.8624+12G>C
 gnomAD v4
19g.38505958G>TCA2814347680RYR1c.8541+12G>T (n.8541+12G>T)
c.8538+12G>T (n.8538+12G>T)
c.1993+12G>T
n.8624+12G>T
19g.38505959C>TCA2582145407RYR1c.8541+13C>T (n.8541+13C>T)
c.8538+13C>T (n.8538+13C>T)
c.1993+13C>T
n.8624+13C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38505960C>ACA995725180RYR1c.8541+14C>A (n.8541+14C>A)
c.8538+14C>A (n.8538+14C>A)
c.1993+14C>A
n.8624+14C>A
 dbSNP gnomAD v3 gnomAD v4
19g.38505960C=CA2335056408RYR1c.8541+14C= (n.8541+14C=)
c.8538+14C= (n.8538+14C=)
c.1993+14C=
n.8624+14C=
19g.38505960C>GCA2584901903RYR1c.8541+14C>G (n.8541+14C>G)
c.8538+14C>G (n.8538+14C>G)
c.1993+14C>G
n.8624+14C>G
 gnomAD v4
19g.38505961T>GCA995725182RYR1c.8541+15T>G (n.8541+15T>G)
c.8538+15T>G (n.8538+15T>G)
c.1993+15T>G
n.8624+15T>G
 dbSNP gnomAD v3 gnomAD v4
19g.38505961T=CA2335056409RYR1c.8541+15T= (n.8541+15T=)
c.8538+15T= (n.8538+15T=)
c.1993+15T=
n.8624+15T=
19g.38505962G>CCA632875457RYR1c.8541+16G>C (n.8541+16G>C)
c.8538+16G>C (n.8538+16G>C)
c.1993+16G>C
n.8624+16G>C
 dbSNP gnomAD v2 gnomAD v4
19g.38505962G=CA2335056410RYR1c.8541+16G= (n.8541+16G=)
c.8538+16G= (n.8538+16G=)
c.1993+16G=
n.8624+16G=
19g.38505963_38505967delCA2584901904RYR1c.8541+17_8541+21del (n.8541+17_8541+21del)
c.8538+17_8538+21del (n.8538+17_8538+21del)
c.1993+17_1993+21del
n.8624+17_8624+21del
 gnomAD v4
19g.38505963G>ACA2697556572RYR1c.8541+17G>A (n.8541+17G>A)
c.8538+17G>A (n.8538+17G>A)
c.1993+17G>A
n.8624+17G>A
 ClinVar
19g.38505963G>TCA2584901905RYR1c.8541+17G>T (n.8541+17G>T)
c.8538+17G>T (n.8538+17G>T)
c.1993+17G>T
n.8624+17G>T
 gnomAD v4
19g.38505965T>GCA632875458RYR1c.8541+19T>G (n.8541+19T>G)
c.8538+19T>G (n.8538+19T>G)
c.1993+19T>G
n.8624+19T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38505965T=CA2335056411RYR1c.8541+19T= (n.8541+19T=)
c.8538+19T= (n.8538+19T=)
c.1993+19T=
n.8624+19T=
19g.38505966G>TCA2584901907RYR1c.8541+20G>T (n.8541+20G>T)
c.8538+20G>T (n.8538+20G>T)
c.1993+20G>T
n.8624+20G>T
 gnomAD v4
19g.38505967delCA2573156309RYR1c.8541+21del (n.8541+21del)
c.8538+21del (n.8538+21del)
c.1993+21del
n.8624+21del
 ClinVar dbSNP gnomAD v4
19g.38505972_38505993delCA2584901906RYR1c.8541+26_8541+47del (n.8541+26_8541+47del)
c.8538+26_8538+47del (n.8538+26_8538+47del)
c.1993+26_1993+47del
n.8624+26_8624+47del
 gnomAD v4
19g.38505967G>TCA2584901908RYR1c.8541+21G>T (n.8541+21G>T)
c.8538+21G>T (n.8538+21G>T)
c.1993+21G>T
n.8624+21G>T
 gnomAD v4
19g.38505968A>CCA2584901909RYR1c.8541+22A>C (n.8541+22A>C)
c.8538+22A>C (n.8538+22A>C)
c.1993+22A>C
n.8624+22A>C
 gnomAD v4
19g.38505968A>GCA995725187RYR1c.8541+22A>G (n.8541+22A>G)
c.8538+22A>G (n.8538+22A>G)
c.1993+22A>G
n.8624+22A>G
 gnomAD v3 gnomAD v4
19g.38505968A>TCA2576771276RYR1c.8541+22A>T (n.8541+22A>T)
c.8538+22A>T (n.8538+22A>T)
c.1993+22A>T
n.8624+22A>T
 gnomAD v3 gnomAD v4

Number of alleles fetched