Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
19	g.38586090G>A	CA405692592	RYR1	c.1805-1G>A c.3202-1G>A c.3174-1G>A n.262-1G>A c.14869-1G>A (n.14869-1G>A) c.14854-1G>A (n.14854-1G>A) c.14851-1G>A (n.14851-1G>A) c.14836-1G>A (n.14836-1G>A) c.14866-1G>A (n.14866-1G>A) c.14782-1G>A (n.14782-1G>A)	dbSNP gnomAD v3 gnomAD v4
19	g.38586090G>C	CA024270	RYR1	c.1805-1G>C c.3202-1G>C c.3174-1G>C n.262-1G>C c.14869-1G>C (n.14869-1G>C) c.14854-1G>C (n.14854-1G>C) c.14851-1G>C (n.14851-1G>C) c.14836-1G>C (n.14836-1G>C) c.14866-1G>C (n.14866-1G>C) c.14782-1G>C (n.14782-1G>C)	ClinVar dbSNP
19	g.38586090G=	CA2335095550	RYR1	c.1805-1G= c.3202-1G= c.3174-1G= n.262-1G= c.14869-1G= (n.14869-1G=) c.14854-1G= (n.14854-1G=) c.14851-1G= (n.14851-1G=) c.14836-1G= (n.14836-1G=) c.14866-1G= (n.14866-1G=) c.14782-1G= (n.14782-1G=)
19	g.38586090G>T	CA405692595	RYR1	c.1805-1G>T c.3202-1G>T c.3174-1G>T n.262-1G>T c.14869-1G>T (n.14869-1G>T) c.14854-1G>T (n.14854-1G>T) c.14851-1G>T (n.14851-1G>T) c.14836-1G>T (n.14836-1G>T) c.14866-1G>T (n.14866-1G>T) c.14782-1G>T (n.14782-1G>T)	ClinVar dbSNP gnomAD v4
19	g.38586091A>C	CA405692597	RYR1	c.1805A>C c.3202A>C c.3174A>C n.262A>C c.14869A>C (p.Thr4957Pro) c.14854A>C (p.Thr4952Pro) c.14851A>C (p.Thr4951Pro) c.14836A>C (p.Thr4946Pro) c.14866A>C (p.Thr4956Pro) c.14782A>C (p.Thr4928Pro)
19	g.38586091A>G	CA405692599	RYR1	c.1805A>G c.3202A>G c.3174A>G n.262A>G c.14869A>G (p.Thr4957Ala) c.14854A>G (p.Thr4952Ala) c.14851A>G (p.Thr4951Ala) c.14836A>G (p.Thr4946Ala) c.14866A>G (p.Thr4956Ala) c.14782A>G (p.Thr4928Ala)
19	g.38586091A>T	CA405692602	RYR1	c.1805A>T c.3202A>T c.3174A>T n.262A>T c.14869A>T (p.Thr4957Ser) c.14854A>T (p.Thr4952Ser) c.14851A>T (p.Thr4951Ser) c.14836A>T (p.Thr4946Ser) c.14866A>T (p.Thr4956Ser) c.14782A>T (p.Thr4928Ser)
19	g.38586092C>A	CA405692605	RYR1	c.1806C>A c.3203C>A c.3175C>A n.263C>A c.14870C>A (p.Thr4957Asn) c.14855C>A (p.Thr4952Asn) c.14852C>A (p.Thr4951Asn) c.14837C>A (p.Thr4946Asn) c.14867C>A (p.Thr4956Asn) c.14783C>A (p.Thr4928Asn)
19	g.38586092C>G	CA405692607	RYR1	c.1806C>G c.3203C>G c.3175C>G n.263C>G c.14870C>G (p.Thr4957Ser) c.14855C>G (p.Thr4952Ser) c.14852C>G (p.Thr4951Ser) c.14837C>G (p.Thr4946Ser) c.14867C>G (p.Thr4956Ser) c.14783C>G (p.Thr4928Ser)
19	g.38586092C>T	CA405692608	RYR1	c.1806C>T c.3203C>T c.3175C>T n.263C>T c.14870C>T (p.Thr4957Ile) c.14855C>T (p.Thr4952Ile) c.14852C>T (p.Thr4951Ile) c.14837C>T (p.Thr4946Ile) c.14867C>T (p.Thr4956Ile) c.14783C>T (p.Thr4928Ile)
19	g.38586093C>A	CA507246608	RYR1	c.1807C>A c.3204C>A c.3176C>A n.264C>A c.14871C>A (p.Thr4957=) c.14856C>A (p.Thr4952=) c.14853C>A (p.Thr4951=) c.14838C>A (p.Thr4946=) c.14868C>A (p.Thr4956=) c.14784C>A (p.Thr4928=)
19	g.38586093C>G	CA507246609	RYR1	c.1807C>G c.3204C>G c.3176C>G n.264C>G c.14871C>G (p.Thr4957=) c.14856C>G (p.Thr4952=) c.14853C>G (p.Thr4951=) c.14838C>G (p.Thr4946=) c.14868C>G (p.Thr4956=) c.14784C>G (p.Thr4928=)	gnomAD v4
19	g.38586093C>T	CA507246610	RYR1	c.1807C>T c.3204C>T c.3176C>T n.264C>T c.14871C>T (p.Thr4957=) c.14856C>T (p.Thr4952=) c.14853C>T (p.Thr4951=) c.14838C>T (p.Thr4946=) c.14868C>T (p.Thr4956=) c.14784C>T (p.Thr4928=)
19	g.38586094A>C	CA405692609	RYR1	c.1808A>C c.3205A>C c.3177A>C n.265A>C c.14872A>C (p.Lys4958Gln) c.14857A>C (p.Lys4953Gln) c.14854A>C (p.Lys4952Gln) c.14839A>C (p.Lys4947Gln) c.14869A>C (p.Lys4957Gln) c.14785A>C (p.Lys4929Gln)
19	g.38586094A>G	CA405692612	RYR1	c.1808A>G c.3205A>G c.3177A>G n.265A>G c.14872A>G (p.Lys4958Glu) c.14857A>G (p.Lys4953Glu) c.14854A>G (p.Lys4952Glu) c.14839A>G (p.Lys4947Glu) c.14869A>G (p.Lys4957Glu) c.14785A>G (p.Lys4929Glu)
19	g.38586094A>T	CA405692613	RYR1	c.1808A>T c.3205A>T c.3177A>T n.265A>T c.14872A>T (p.Lys4958Ter) c.14857A>T (p.Lys4953Ter) c.14854A>T (p.Lys4952Ter) c.14839A>T (p.Lys4947Ter) c.14869A>T (p.Lys4957Ter) c.14785A>T (p.Lys4929Ter)
19	g.38586095A>C	CA405692616	RYR1	c.1809A>C c.3206A>C c.3178A>C n.266A>C c.14873A>C (p.Lys4958Thr) c.14858A>C (p.Lys4953Thr) c.14855A>C (p.Lys4952Thr) c.14840A>C (p.Lys4947Thr) c.14870A>C (p.Lys4957Thr) c.14786A>C (p.Lys4929Thr)
19	g.38586095A>G	CA405692615	RYR1	c.1809A>G c.3206A>G c.3178A>G n.266A>G c.14873A>G (p.Lys4958Arg) c.14858A>G (p.Lys4953Arg) c.14855A>G (p.Lys4952Arg) c.14840A>G (p.Lys4947Arg) c.14870A>G (p.Lys4957Arg) c.14786A>G (p.Lys4929Arg)
19	g.38586095A>T	CA405692614	RYR1	c.1809A>T c.3206A>T c.3178A>T n.266A>T c.14873A>T (p.Lys4958Met) c.14858A>T (p.Lys4953Met) c.14855A>T (p.Lys4952Met) c.14840A>T (p.Lys4947Met) c.14870A>T (p.Lys4957Met) c.14786A>T (p.Lys4929Met)
19	g.38586096G>A	CA507246611	RYR1	c.1810G>A c.3207G>A c.3179G>A n.267G>A c.14874G>A (p.Lys4958=) c.14859G>A (p.Lys4953=) c.14856G>A (p.Lys4952=) c.14841G>A (p.Lys4947=) c.14871G>A (p.Lys4957=) c.14787G>A (p.Lys4929=)	gnomAD v4
19	g.38586096G>C	CA405692617	RYR1	c.1810G>C c.3207G>C c.3179G>C n.267G>C c.14874G>C (p.Lys4958Asn) c.14859G>C (p.Lys4953Asn) c.14856G>C (p.Lys4952Asn) c.14841G>C (p.Lys4947Asn) c.14871G>C (p.Lys4957Asn) c.14787G>C (p.Lys4929Asn)	dbSNP
19	g.38586096G=	CA2335095551	RYR1	c.1810G= c.3207G= c.3179G= n.267G= c.14874G= (p.Lys4958=) c.14859G= (p.Lys4953=) c.14856G= (p.Lys4952=) c.14841G= (p.Lys4947=) c.14871G= (p.Lys4957=) c.14787G= (p.Lys4929=)
19	g.38586096G>T	CA405692619	RYR1	c.1810G>T c.3207G>T c.3179G>T n.267G>T c.14874G>T (p.Lys4958Asn) c.14859G>T (p.Lys4953Asn) c.14856G>T (p.Lys4952Asn) c.14841G>T (p.Lys4947Asn) c.14871G>T (p.Lys4957Asn) c.14787G>T (p.Lys4929Asn)
19	g.38586097T>A	CA405692621	RYR1	c.1811T>A c.3208T>A c.3180T>A n.268T>A c.14875T>A (p.Cys4959Ser) c.14860T>A (p.Cys4954Ser) c.14857T>A (p.Cys4953Ser) c.14842T>A (p.Cys4948Ser) c.14872T>A (p.Cys4958Ser) c.14788T>A (p.Cys4930Ser)
19	g.38586097T>C	CA405692622	RYR1	c.1811T>C c.3208T>C c.3180T>C n.268T>C c.14875T>C (p.Cys4959Arg) c.14860T>C (p.Cys4954Arg) c.14857T>C (p.Cys4953Arg) c.14842T>C (p.Cys4948Arg) c.14872T>C (p.Cys4958Arg) c.14788T>C (p.Cys4930Arg)
19	g.38586097T>G	CA405692629	RYR1	c.1811T>G c.3208T>G c.3180T>G n.268T>G c.14875T>G (p.Cys4959Gly) c.14860T>G (p.Cys4954Gly) c.14857T>G (p.Cys4953Gly) c.14842T>G (p.Cys4948Gly) c.14872T>G (p.Cys4958Gly) c.14788T>G (p.Cys4930Gly)
19	g.38586097T=	CA2335095552	RYR1	c.1811T= c.3208T= c.3180T= n.268T= c.14875T= (p.Cys4959=) c.14860T= (p.Cys4954=) c.14857T= (p.Cys4953=) c.14842T= (p.Cys4948=) c.14872T= (p.Cys4958=) c.14788T= (p.Cys4930=)
19	g.38586098G>A	CA405692631	RYR1	c.1812G>A c.3209G>A c.3181G>A n.269G>A c.14876G>A (p.Cys4959Tyr) c.14861G>A (p.Cys4954Tyr) c.14858G>A (p.Cys4953Tyr) c.14843G>A (p.Cys4948Tyr) c.14873G>A (p.Cys4958Tyr) c.14789G>A (p.Cys4930Tyr)
19	g.38586098G>C	CA405692634	RYR1	c.1812G>C c.3209G>C c.3181G>C n.269G>C c.14876G>C (p.Cys4959Ser) c.14861G>C (p.Cys4954Ser) c.14858G>C (p.Cys4953Ser) c.14843G>C (p.Cys4948Ser) c.14873G>C (p.Cys4958Ser) c.14789G>C (p.Cys4930Ser)
19	g.38586098G=	CA2335095553	RYR1	c.1812G= c.3209G= c.3181G= n.269G= c.14876G= (p.Cys4959=) c.14861G= (p.Cys4954=) c.14858G= (p.Cys4953=) c.14843G= (p.Cys4948=) c.14873G= (p.Cys4958=) c.14789G= (p.Cys4930=)
19	g.38586098G>T	CA081352	RYR1	c.1812G>T c.3209G>T c.3181G>T n.269G>T c.14876G>T (p.Cys4959Phe) c.14861G>T (p.Cys4954Phe) c.14858G>T (p.Cys4953Phe) c.14843G>T (p.Cys4948Phe) c.14873G>T (p.Cys4958Phe) c.14789G>T (p.Cys4930Phe)	dbSNP
19	g.38586100_38586117dup	CA632878114	RYR1	c.1814_1831dup c.3211_3228dup c.3183_3200dup n.271_288dup c.14878_14895dup (p.Gly4965_Ser4966insPheIleCysGlyIleGly) c.14863_14880dup (p.Gly4960_Ser4961insPheIleCysGlyIleGly) c.14860_14877dup (p.Gly4959_Ser4960insPheIleCysGlyIleGly) c.14845_14862dup (p.Gly4954_Ser4955insPheIleCysGlyIleGly) c.14875_14892dup (p.Gly4964_Ser4965insPheIleCysGlyIleGly) c.14791_14808dup (p.Gly4936_Ser4937insPheIleCysGlyIleGly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38586099C>A	CA405692638	RYR1	c.1813C>A c.3210C>A c.3182C>A n.270C>A c.14877C>A (p.Cys4959Ter) c.14862C>A (p.Cys4954Ter) c.14859C>A (p.Cys4953Ter) c.14844C>A (p.Cys4948Ter) c.14874C>A (p.Cys4958Ter) c.14790C>A (p.Cys4930Ter)
19	g.38586099C>G	CA405692639	RYR1	c.1813C>G c.3210C>G c.3182C>G n.270C>G c.14877C>G (p.Cys4959Trp) c.14862C>G (p.Cys4954Trp) c.14859C>G (p.Cys4953Trp) c.14844C>G (p.Cys4948Trp) c.14874C>G (p.Cys4958Trp) c.14790C>G (p.Cys4930Trp)
19	g.38586099C>T	CA507246612	RYR1	c.1813C>T c.3210C>T c.3182C>T n.270C>T c.14877C>T (p.Cys4959=) c.14862C>T (p.Cys4954=) c.14859C>T (p.Cys4953=) c.14844C>T (p.Cys4948=) c.14874C>T (p.Cys4958=) c.14790C>T (p.Cys4930=)
19	g.38586100T>A	CA405692641	RYR1	c.1814T>A c.3211T>A c.3183T>A n.271T>A c.14878T>A (p.Phe4960Ile) c.14863T>A (p.Phe4955Ile) c.14860T>A (p.Phe4954Ile) c.14845T>A (p.Phe4949Ile) c.14875T>A (p.Phe4959Ile) c.14791T>A (p.Phe4931Ile)
19	g.38586100T>C	CA405692645	RYR1	c.1814T>C c.3211T>C c.3183T>C n.271T>C c.14878T>C (p.Phe4960Leu) c.14863T>C (p.Phe4955Leu) c.14860T>C (p.Phe4954Leu) c.14845T>C (p.Phe4949Leu) c.14875T>C (p.Phe4959Leu) c.14791T>C (p.Phe4931Leu)
19	g.38586100T>G	CA405692646	RYR1	c.1814T>G c.3211T>G c.3183T>G n.271T>G c.14878T>G (p.Phe4960Val) c.14863T>G (p.Phe4955Val) c.14860T>G (p.Phe4954Val) c.14845T>G (p.Phe4949Val) c.14875T>G (p.Phe4959Val) c.14791T>G (p.Phe4931Val)
19	g.38586101T>A	CA024272	RYR1	c.1815T>A c.3212T>A c.3184T>A n.272T>A c.14879T>A (p.Phe4960Tyr) c.14864T>A (p.Phe4955Tyr) c.14861T>A (p.Phe4954Tyr) c.14846T>A (p.Phe4949Tyr) c.14876T>A (p.Phe4959Tyr) c.14792T>A (p.Phe4931Tyr)	ClinVar dbSNP
19	g.38586101T>C	CA405692649	RYR1	c.1815T>C c.3212T>C c.3184T>C n.272T>C c.14879T>C (p.Phe4960Ser) c.14864T>C (p.Phe4955Ser) c.14861T>C (p.Phe4954Ser) c.14846T>C (p.Phe4949Ser) c.14876T>C (p.Phe4959Ser) c.14792T>C (p.Phe4931Ser)
19	g.38586101T>G	CA081354	RYR1	c.1815T>G c.3212T>G c.3184T>G n.272T>G c.14879T>G (p.Phe4960Cys) c.14864T>G (p.Phe4955Cys) c.14861T>G (p.Phe4954Cys) c.14846T>G (p.Phe4949Cys) c.14876T>G (p.Phe4959Cys) c.14792T>G (p.Phe4931Cys)	dbSNP ExAC gnomAD v2
19	g.38586101T=	CA2335095554	RYR1	c.1815T= c.3212T= c.3184T= n.272T= c.14879T= (p.Phe4960=) c.14864T= (p.Phe4955=) c.14861T= (p.Phe4954=) c.14846T= (p.Phe4949=) c.14876T= (p.Phe4959=) c.14792T= (p.Phe4931=)
19	g.38586102C>A	CA405692660	RYR1	c.1816C>A c.3213C>A c.3185C>A n.273C>A c.14880C>A (p.Phe4960Leu) c.14865C>A (p.Phe4955Leu) c.14862C>A (p.Phe4954Leu) c.14847C>A (p.Phe4949Leu) c.14877C>A (p.Phe4959Leu) c.14793C>A (p.Phe4931Leu)
19	g.38586102C>G	CA405692662	RYR1	c.1816C>G c.3213C>G c.3185C>G n.273C>G c.14880C>G (p.Phe4960Leu) c.14865C>G (p.Phe4955Leu) c.14862C>G (p.Phe4954Leu) c.14847C>G (p.Phe4949Leu) c.14877C>G (p.Phe4959Leu) c.14793C>G (p.Phe4931Leu)
19	g.38586102C>T	CA507246613	RYR1	c.1816C>T c.3213C>T c.3185C>T n.273C>T c.14880C>T (p.Phe4960=) c.14865C>T (p.Phe4955=) c.14862C>T (p.Phe4954=) c.14847C>T (p.Phe4949=) c.14877C>T (p.Phe4959=) c.14793C>T (p.Phe4931=)
19	g.38586103A>C	CA405692664	RYR1	c.1817A>C c.3214A>C c.3186A>C n.274A>C c.14881A>C (p.Ile4961Leu) c.14866A>C (p.Ile4956Leu) c.14863A>C (p.Ile4955Leu) c.14848A>C (p.Ile4950Leu) c.14878A>C (p.Ile4960Leu) c.14794A>C (p.Ile4932Leu)
19	g.38586103A>G	CA405692667	RYR1	c.1817A>G c.3214A>G c.3186A>G n.274A>G c.14881A>G (p.Ile4961Val) c.14866A>G (p.Ile4956Val) c.14863A>G (p.Ile4955Val) c.14848A>G (p.Ile4950Val) c.14878A>G (p.Ile4960Val) c.14794A>G (p.Ile4932Val)	gnomAD v4
19	g.38586103A>T	CA405692668	RYR1	c.1817A>T c.3214A>T c.3186A>T n.274A>T c.14881A>T (p.Ile4961Phe) c.14866A>T (p.Ile4956Phe) c.14863A>T (p.Ile4955Phe) c.14848A>T (p.Ile4950Phe) c.14878A>T (p.Ile4960Phe) c.14794A>T (p.Ile4932Phe)
19	g.38586104T>A	CA405692669	RYR1	c.1818T>A c.3215T>A c.3187T>A n.275T>A c.14882T>A (p.Ile4961Asn) c.14867T>A (p.Ile4956Asn) c.14864T>A (p.Ile4955Asn) c.14849T>A (p.Ile4950Asn) c.14879T>A (p.Ile4960Asn) c.14795T>A (p.Ile4932Asn)
19	g.38586104T>C	CA405692670	RYR1	c.1818T>C c.3215T>C c.3187T>C n.275T>C c.14882T>C (p.Ile4961Thr) c.14867T>C (p.Ile4956Thr) c.14864T>C (p.Ile4955Thr) c.14849T>C (p.Ile4950Thr) c.14879T>C (p.Ile4960Thr) c.14795T>C (p.Ile4932Thr)
19	g.38586104T>G	CA081361	RYR1	c.1818T>G c.3215T>G c.3187T>G n.275T>G c.14882T>G (p.Ile4961Ser) c.14867T>G (p.Ile4956Ser) c.14864T>G (p.Ile4955Ser) c.14849T>G (p.Ile4950Ser) c.14879T>G (p.Ile4960Ser) c.14795T>G (p.Ile4932Ser)
19	g.38586105C>A	CA507246614	RYR1	c.1819C>A c.3216C>A c.3188C>A n.276C>A c.14883C>A (p.Ile4961=) c.14868C>A (p.Ile4956=) c.14865C>A (p.Ile4955=) c.14850C>A (p.Ile4950=) c.14880C>A (p.Ile4960=) c.14796C>A (p.Ile4932=)
19	g.38586105C=	CA2335095555	RYR1	c.1819C= c.3216C= c.3188C= n.276C= c.14883C= (p.Ile4961=) c.14868C= (p.Ile4956=) c.14865C= (p.Ile4955=) c.14850C= (p.Ile4950=) c.14880C= (p.Ile4960=) c.14796C= (p.Ile4932=)
19	g.38586105C>G	CA308126661	RYR1	c.1819C>G c.3216C>G c.3188C>G n.276C>G c.14883C>G (p.Ile4961Met) c.14868C>G (p.Ile4956Met) c.14865C>G (p.Ile4955Met) c.14850C>G (p.Ile4950Met) c.14880C>G (p.Ile4960Met) c.14796C>G (p.Ile4932Met)	dbSNP gnomAD v3 gnomAD v4
19	g.38586105C>T	CA507246615	RYR1	c.1819C>T c.3216C>T c.3188C>T n.276C>T c.14883C>T (p.Ile4961=) c.14868C>T (p.Ile4956=) c.14865C>T (p.Ile4955=) c.14850C>T (p.Ile4950=) c.14880C>T (p.Ile4960=) c.14796C>T (p.Ile4932=)
19	g.38586106T>A	CA405692671	RYR1	c.1820T>A c.3217T>A c.3189T>A n.277T>A c.14884T>A (p.Cys4962Ser) c.14869T>A (p.Cys4957Ser) c.14866T>A (p.Cys4956Ser) c.14851T>A (p.Cys4951Ser) c.14881T>A (p.Cys4961Ser) c.14797T>A (p.Cys4933Ser)
19	g.38586106T>C	CA405692673	RYR1	c.1820T>C c.3217T>C c.3189T>C n.277T>C c.14884T>C (p.Cys4962Arg) c.14869T>C (p.Cys4957Arg) c.14866T>C (p.Cys4956Arg) c.14851T>C (p.Cys4951Arg) c.14881T>C (p.Cys4961Arg) c.14797T>C (p.Cys4933Arg)
19	g.38586106T>G	CA405692674	RYR1	c.1820T>G c.3217T>G c.3189T>G n.277T>G c.14884T>G (p.Cys4962Gly) c.14869T>G (p.Cys4957Gly) c.14866T>G (p.Cys4956Gly) c.14851T>G (p.Cys4951Gly) c.14881T>G (p.Cys4961Gly) c.14797T>G (p.Cys4933Gly)
19	g.38586107G>A	CA405692676	RYR1	c.1821G>A c.3218G>A c.3190G>A n.278G>A c.14885G>A (p.Cys4962Tyr) c.14870G>A (p.Cys4957Tyr) c.14867G>A (p.Cys4956Tyr) c.14852G>A (p.Cys4951Tyr) c.14882G>A (p.Cys4961Tyr) c.14798G>A (p.Cys4933Tyr)
19	g.38586107G>C	CA405692686	RYR1	c.1821G>C c.3218G>C c.3190G>C n.278G>C c.14885G>C (p.Cys4962Ser) c.14870G>C (p.Cys4957Ser) c.14867G>C (p.Cys4956Ser) c.14852G>C (p.Cys4951Ser) c.14882G>C (p.Cys4961Ser) c.14798G>C (p.Cys4933Ser)
19	g.38586107G=	CA2335095556	RYR1	c.1821G= c.3218G= c.3190G= n.278G= c.14885G= (p.Cys4962=) c.14870G= (p.Cys4957=) c.14867G= (p.Cys4956=) c.14852G= (p.Cys4951=) c.14882G= (p.Cys4961=) c.14798G= (p.Cys4933=)
19	g.38586107G>T	CA405692683	RYR1	c.1821G>T c.3218G>T c.3190G>T n.278G>T c.14885G>T (p.Cys4962Phe) c.14870G>T (p.Cys4957Phe) c.14867G>T (p.Cys4956Phe) c.14852G>T (p.Cys4951Phe) c.14882G>T (p.Cys4961Phe) c.14798G>T (p.Cys4933Phe)	dbSNP gnomAD v2
19	g.38586108T>A	CA405692689	RYR1	c.1822T>A c.3219T>A c.3191T>A n.279T>A c.14886T>A (p.Cys4962Ter) c.14871T>A (p.Cys4957Ter) c.14868T>A (p.Cys4956Ter) c.14853T>A (p.Cys4951Ter) c.14883T>A (p.Cys4961Ter) c.14799T>A (p.Cys4933Ter)
19	g.38586108T>C	CA507246616	RYR1	c.1822T>C c.3219T>C c.3191T>C n.279T>C c.14886T>C (p.Cys4962=) c.14871T>C (p.Cys4957=) c.14868T>C (p.Cys4956=) c.14853T>C (p.Cys4951=) c.14883T>C (p.Cys4961=) c.14799T>C (p.Cys4933=)
19	g.38586108T>G	CA405692696	RYR1	c.1822T>G c.3219T>G c.3191T>G n.279T>G c.14886T>G (p.Cys4962Trp) c.14871T>G (p.Cys4957Trp) c.14868T>G (p.Cys4956Trp) c.14853T>G (p.Cys4951Trp) c.14883T>G (p.Cys4961Trp) c.14799T>G (p.Cys4933Trp)
19	g.38586109G>A	CA405692700	RYR1	c.1823G>A c.3220G>A c.3192G>A n.280G>A c.14887G>A (p.Gly4963Arg) c.14872G>A (p.Gly4958Arg) c.14869G>A (p.Gly4957Arg) c.14854G>A (p.Gly4952Arg) c.14884G>A (p.Gly4962Arg) c.14800G>A (p.Gly4934Arg)
19	g.38586109G>C	CA405692711	RYR1	c.1823G>C c.3220G>C c.3192G>C n.280G>C c.14887G>C (p.Gly4963Arg) c.14872G>C (p.Gly4958Arg) c.14869G>C (p.Gly4957Arg) c.14854G>C (p.Gly4952Arg) c.14884G>C (p.Gly4962Arg) c.14800G>C (p.Gly4934Arg)
19	g.38586109G>T	CA405692702	RYR1	c.1823G>T c.3220G>T c.3192G>T n.280G>T c.14887G>T (p.Gly4963Ter) c.14872G>T (p.Gly4958Ter) c.14869G>T (p.Gly4957Ter) c.14854G>T (p.Gly4952Ter) c.14884G>T (p.Gly4962Ter) c.14800G>T (p.Gly4934Ter)
19	g.38586110G>A	CA405692715	RYR1	c.1824G>A c.3221G>A c.3193G>A n.281G>A c.14888G>A (p.Gly4963Glu) c.14873G>A (p.Gly4958Glu) c.14870G>A (p.Gly4957Glu) c.14855G>A (p.Gly4952Glu) c.14885G>A (p.Gly4962Glu) c.14801G>A (p.Gly4934Glu)	COSMIC
19	g.38586110G>C	CA405692719	RYR1	c.1824G>C c.3221G>C c.3193G>C n.281G>C c.14888G>C (p.Gly4963Ala) c.14873G>C (p.Gly4958Ala) c.14870G>C (p.Gly4957Ala) c.14855G>C (p.Gly4952Ala) c.14885G>C (p.Gly4962Ala) c.14801G>C (p.Gly4934Ala)
19	g.38586110G=	CA2335095557	RYR1	c.1824G= c.3221G= c.3193G= n.281G= c.14888G= (p.Gly4963=) c.14873G= (p.Gly4958=) c.14870G= (p.Gly4957=) c.14855G= (p.Gly4952=) c.14885G= (p.Gly4962=) c.14801G= (p.Gly4934=)
19	g.38586110G>T	CA405692717	RYR1	c.1824G>T c.3221G>T c.3193G>T n.281G>T c.14888G>T (p.Gly4963Val) c.14873G>T (p.Gly4958Val) c.14870G>T (p.Gly4957Val) c.14855G>T (p.Gly4952Val) c.14885G>T (p.Gly4962Val) c.14801G>T (p.Gly4934Val)
19	g.38586111A>C	CA507246617	RYR1	c.1825A>C c.3222A>C c.3194A>C n.282A>C c.14889A>C (p.Gly4963=) c.14874A>C (p.Gly4958=) c.14871A>C (p.Gly4957=) c.14856A>C (p.Gly4952=) c.14886A>C (p.Gly4962=) c.14802A>C (p.Gly4934=)
19	g.38586111A>G	CA507246618	RYR1	c.1825A>G c.3222A>G c.3194A>G n.282A>G c.14889A>G (p.Gly4963=) c.14874A>G (p.Gly4958=) c.14871A>G (p.Gly4957=) c.14856A>G (p.Gly4952=) c.14886A>G (p.Gly4962=) c.14802A>G (p.Gly4934=)
19	g.38586111A>T	CA507246619	RYR1	c.1825A>T c.3222A>T c.3194A>T n.282A>T c.14889A>T (p.Gly4963=) c.14874A>T (p.Gly4958=) c.14871A>T (p.Gly4957=) c.14856A>T (p.Gly4952=) c.14886A>T (p.Gly4962=) c.14802A>T (p.Gly4934=)
19	g.38586112dup	CA632878115	RYR1	c.1826dup c.3223dup c.3195dup n.283dup c.14890dup (p.Ile4964AsnfsTer4) c.14875dup (p.Ile4959AsnfsTer4) c.14872dup (p.Ile4958AsnfsTer4) c.14857dup (p.Ile4953AsnfsTer4) c.14887dup (p.Ile4963AsnfsTer4) c.14803dup (p.Ile4935AsnfsTer4)	dbSNP gnomAD v2 gnomAD v4
19	g.38586112A=	CA2335095558	RYR1	c.1826A= c.3223A= c.3195A= n.283A= c.14890A= (p.Ile4964=) c.14875A= (p.Ile4959=) c.14872A= (p.Ile4958=) c.14857A= (p.Ile4953=) c.14887A= (p.Ile4963=) c.14803A= (p.Ile4935=)
19	g.38586112A>C	CA405692720	RYR1	c.1826A>C c.3223A>C c.3195A>C n.283A>C c.14890A>C (p.Ile4964Leu) c.14875A>C (p.Ile4959Leu) c.14872A>C (p.Ile4958Leu) c.14857A>C (p.Ile4953Leu) c.14887A>C (p.Ile4963Leu) c.14803A>C (p.Ile4935Leu)
19	g.38586112A>G	CA405692722	RYR1	c.1826A>G c.3223A>G c.3195A>G n.283A>G c.14890A>G (p.Ile4964Val) c.14875A>G (p.Ile4959Val) c.14872A>G (p.Ile4958Val) c.14857A>G (p.Ile4953Val) c.14887A>G (p.Ile4963Val) c.14803A>G (p.Ile4935Val)	dbSNP gnomAD v3 gnomAD v4
19	g.38586112A>T	CA405692725	RYR1	c.1826A>T c.3223A>T c.3195A>T n.283A>T c.14890A>T (p.Ile4964Phe) c.14875A>T (p.Ile4959Phe) c.14872A>T (p.Ile4958Phe) c.14857A>T (p.Ile4953Phe) c.14887A>T (p.Ile4963Phe) c.14803A>T (p.Ile4935Phe)
19	g.38586113T>A	CA405692729	RYR1	c.1827T>A c.3224T>A c.3196T>A n.284T>A c.14891T>A (p.Ile4964Asn) c.14876T>A (p.Ile4959Asn) c.14873T>A (p.Ile4958Asn) c.14858T>A (p.Ile4953Asn) c.14888T>A (p.Ile4963Asn) c.14804T>A (p.Ile4935Asn)
19	g.38586113T>C	CA405692734	RYR1	c.1827T>C c.3224T>C c.3196T>C n.284T>C c.14891T>C (p.Ile4964Thr) c.14876T>C (p.Ile4959Thr) c.14873T>C (p.Ile4958Thr) c.14858T>C (p.Ile4953Thr) c.14888T>C (p.Ile4963Thr) c.14804T>C (p.Ile4935Thr)
19	g.38586113T>G	CA405692737	RYR1	c.1827T>G c.3224T>G c.3196T>G n.284T>G c.14891T>G (p.Ile4964Ser) c.14876T>G (p.Ile4959Ser) c.14873T>G (p.Ile4958Ser) c.14858T>G (p.Ile4953Ser) c.14888T>G (p.Ile4963Ser) c.14804T>G (p.Ile4935Ser)
19	g.38586114C>A	CA024274	RYR1	c.1828C>A c.3225C>A c.3197C>A n.285C>A c.14892C>A (p.Ile4964=) c.14877C>A (p.Ile4959=) c.14874C>A (p.Ile4958=) c.14859C>A (p.Ile4953=) c.14889C>A (p.Ile4963=) c.14805C>A (p.Ile4935=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38586114C=	CA2335095559	RYR1	c.1828C= c.3225C= c.3197C= n.285C= c.14892C= (p.Ile4964=) c.14877C= (p.Ile4959=) c.14874C= (p.Ile4958=) c.14859C= (p.Ile4953=) c.14889C= (p.Ile4963=) c.14805C= (p.Ile4935=)
19	g.38586114C>G	CA405692743	RYR1	c.1828C>G c.3225C>G c.3197C>G n.285C>G c.14892C>G (p.Ile4964Met) c.14877C>G (p.Ile4959Met) c.14874C>G (p.Ile4958Met) c.14859C>G (p.Ile4953Met) c.14889C>G (p.Ile4963Met) c.14805C>G (p.Ile4935Met)
19	g.38586114C>T	CA061776	RYR1	c.1828C>T c.3225C>T c.3197C>T n.285C>T c.14892C>T (p.Ile4964=) c.14877C>T (p.Ile4959=) c.14874C>T (p.Ile4958=) c.14859C>T (p.Ile4953=) c.14889C>T (p.Ile4963=) c.14805C>T (p.Ile4935=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38586115G>A	CA405692757	RYR1	c.1829G>A c.3226G>A c.3198G>A n.286G>A c.14893G>A (p.Gly4965Ser) c.14878G>A (p.Gly4960Ser) c.14875G>A (p.Gly4959Ser) c.14860G>A (p.Gly4954Ser) c.14890G>A (p.Gly4964Ser) c.14806G>A (p.Gly4936Ser)	ClinVar gnomAD v4
19	g.38586115G>C	CA405692764	RYR1	c.1829G>C c.3226G>C c.3198G>C n.286G>C c.14893G>C (p.Gly4965Arg) c.14878G>C (p.Gly4960Arg) c.14875G>C (p.Gly4959Arg) c.14860G>C (p.Gly4954Arg) c.14890G>C (p.Gly4964Arg) c.14806G>C (p.Gly4936Arg)
19	g.38586115G>T	CA405692768	RYR1	c.1829G>T c.3226G>T c.3198G>T n.286G>T c.14893G>T (p.Gly4965Cys) c.14878G>T (p.Gly4960Cys) c.14875G>T (p.Gly4959Cys) c.14860G>T (p.Gly4954Cys) c.14890G>T (p.Gly4964Cys) c.14806G>T (p.Gly4936Cys)	gnomAD v4
19	g.38586116G>A	CA405692772	RYR1	c.1830G>A c.3227G>A c.3199G>A n.287G>A c.14894G>A (p.Gly4965Asp) c.14879G>A (p.Gly4960Asp) c.14876G>A (p.Gly4959Asp) c.14861G>A (p.Gly4954Asp) c.14891G>A (p.Gly4964Asp) c.14807G>A (p.Gly4936Asp)	dbSNP gnomAD v2 gnomAD v4
19	g.38586116G>C	CA405692779	RYR1	c.1830G>C c.3227G>C c.3199G>C n.287G>C c.14894G>C (p.Gly4965Ala) c.14879G>C (p.Gly4960Ala) c.14876G>C (p.Gly4959Ala) c.14861G>C (p.Gly4954Ala) c.14891G>C (p.Gly4964Ala) c.14807G>C (p.Gly4936Ala)
19	g.38586116G=	CA2335095560	RYR1	c.1830G= c.3227G= c.3199G= n.287G= c.14894G= (p.Gly4965=) c.14879G= (p.Gly4960=) c.14876G= (p.Gly4959=) c.14861G= (p.Gly4954=) c.14891G= (p.Gly4964=) c.14807G= (p.Gly4936=)
19	g.38586116G>T	CA405692776	RYR1	c.1830G>T c.3227G>T c.3199G>T n.287G>T c.14894G>T (p.Gly4965Val) c.14879G>T (p.Gly4960Val) c.14876G>T (p.Gly4959Val) c.14861G>T (p.Gly4954Val) c.14891G>T (p.Gly4964Val) c.14807G>T (p.Gly4936Val)	gnomAD v4
19	g.38586117C>A	CA081362	RYR1	c.1831C>A c.3228C>A c.3200C>A n.288C>A c.14895C>A (p.Gly4965=) c.14880C>A (p.Gly4960=) c.14877C>A (p.Gly4959=) c.14862C>A (p.Gly4954=) c.14892C>A (p.Gly4964=) c.14808C>A (p.Gly4936=)
19	g.38586117C=	CA2335095561	RYR1	c.1831C= c.3228C= c.3200C= n.288C= c.14895C= (p.Gly4965=) c.14880C= (p.Gly4960=) c.14877C= (p.Gly4959=) c.14862C= (p.Gly4954=) c.14892C= (p.Gly4964=) c.14808C= (p.Gly4936=)
19	g.38586117C>G	CA507246620	RYR1	c.1831C>G c.3228C>G c.3200C>G n.288C>G c.14895C>G (p.Gly4965=) c.14880C>G (p.Gly4960=) c.14877C>G (p.Gly4959=) c.14862C>G (p.Gly4954=) c.14892C>G (p.Gly4964=) c.14808C>G (p.Gly4936=)
19	g.38586117C>T	CA061781	RYR1	c.1831C>T c.3228C>T c.3200C>T n.288C>T c.14895C>T (p.Gly4965=) c.14880C>T (p.Gly4960=) c.14877C>T (p.Gly4959=) c.14862C>T (p.Gly4954=) c.14892C>T (p.Gly4964=) c.14808C>T (p.Gly4936=)	ClinVar dbSNP ExAC gnomAD v2
19	g.38586118A>C	CA405692793	RYR1	c.1832A>C c.3229A>C c.3201A>C n.289A>C c.14896A>C (p.Ser4966Arg) c.14881A>C (p.Ser4961Arg) c.14878A>C (p.Ser4960Arg) c.14863A>C (p.Ser4955Arg) c.14893A>C (p.Ser4965Arg) c.14809A>C (p.Ser4937Arg)
19	g.38586118A>G	CA405692817	RYR1	c.1832A>G c.3229A>G c.3201A>G n.289A>G c.14896A>G (p.Ser4966Gly) c.14881A>G (p.Ser4961Gly) c.14878A>G (p.Ser4960Gly) c.14863A>G (p.Ser4955Gly) c.14893A>G (p.Ser4965Gly) c.14809A>G (p.Ser4937Gly)
19	g.38586118A>T	CA405692822	RYR1	c.1832A>T c.3229A>T c.3201A>T n.289A>T c.14896A>T (p.Ser4966Cys) c.14881A>T (p.Ser4961Cys) c.14878A>T (p.Ser4960Cys) c.14863A>T (p.Ser4955Cys) c.14893A>T (p.Ser4965Cys) c.14809A>T (p.Ser4937Cys)
19	g.38586119G>A	CA405692825	RYR1	c.1833G>A c.3230G>A c.3202G>A n.290G>A c.14897G>A (p.Ser4966Asn) c.14882G>A (p.Ser4961Asn) c.14879G>A (p.Ser4960Asn) c.14864G>A (p.Ser4955Asn) c.14894G>A (p.Ser4965Asn) c.14810G>A (p.Ser4937Asn)
19	g.38586119G>C	CA405692837	RYR1	c.1833G>C c.3230G>C c.3202G>C n.290G>C c.14897G>C (p.Ser4966Thr) c.14882G>C (p.Ser4961Thr) c.14879G>C (p.Ser4960Thr) c.14864G>C (p.Ser4955Thr) c.14894G>C (p.Ser4965Thr) c.14810G>C (p.Ser4937Thr)
19	g.38586119G>T	CA405692839	RYR1	c.1833G>T c.3230G>T c.3202G>T n.290G>T c.14897G>T (p.Ser4966Ile) c.14882G>T (p.Ser4961Ile) c.14879G>T (p.Ser4960Ile) c.14864G>T (p.Ser4955Ile) c.14894G>T (p.Ser4965Ile) c.14810G>T (p.Ser4937Ile)
19	g.38586120T>A	CA405692840	RYR1	c.1834T>A c.3231T>A c.3203T>A n.291T>A c.14898T>A (p.Ser4966Arg) c.14883T>A (p.Ser4961Arg) c.14880T>A (p.Ser4960Arg) c.14865T>A (p.Ser4955Arg) c.14895T>A (p.Ser4965Arg) c.14811T>A (p.Ser4937Arg)
19	g.38586120T>C	CA507246621	RYR1	c.1834T>C c.3231T>C c.3203T>C n.291T>C c.14898T>C (p.Ser4966=) c.14883T>C (p.Ser4961=) c.14880T>C (p.Ser4960=) c.14865T>C (p.Ser4955=) c.14895T>C (p.Ser4965=) c.14811T>C (p.Ser4937=)
19	g.38586120T>G	CA405692844	RYR1	c.1834T>G c.3231T>G c.3203T>G n.291T>G c.14898T>G (p.Ser4966Arg) c.14883T>G (p.Ser4961Arg) c.14880T>G (p.Ser4960Arg) c.14865T>G (p.Ser4955Arg) c.14895T>G (p.Ser4965Arg) c.14811T>G (p.Ser4937Arg)
19	g.38586121G>A	CA081345	RYR1	c.1835G>A c.3232G>A c.3204G>A n.292G>A c.14899G>A (p.Asp4967Asn) c.14884G>A (p.Asp4962Asn) c.14881G>A (p.Asp4961Asn) c.14866G>A (p.Asp4956Asn) c.14896G>A (p.Asp4966Asn) c.14812G>A (p.Asp4938Asn)
19	g.38586121G>C	CA405692849	RYR1	c.1835G>C c.3232G>C c.3204G>C n.292G>C c.14899G>C (p.Asp4967His) c.14884G>C (p.Asp4962His) c.14881G>C (p.Asp4961His) c.14866G>C (p.Asp4956His) c.14896G>C (p.Asp4966His) c.14812G>C (p.Asp4938His)
19	g.38586121G>T	CA405692846	RYR1	c.1835G>T c.3232G>T c.3204G>T n.292G>T c.14899G>T (p.Asp4967Tyr) c.14884G>T (p.Asp4962Tyr) c.14881G>T (p.Asp4961Tyr) c.14866G>T (p.Asp4956Tyr) c.14896G>T (p.Asp4966Tyr) c.14812G>T (p.Asp4938Tyr)
19	g.38586122A>C	CA405692855	RYR1	c.1836A>C c.3233A>C c.3205A>C n.293A>C c.14900A>C (p.Asp4967Ala) c.14885A>C (p.Asp4962Ala) c.14882A>C (p.Asp4961Ala) c.14867A>C (p.Asp4956Ala) c.14897A>C (p.Asp4966Ala) c.14813A>C (p.Asp4938Ala)
19	g.38586122A>G	CA405692861	RYR1	c.1836A>G c.3233A>G c.3205A>G n.293A>G c.14900A>G (p.Asp4967Gly) c.14885A>G (p.Asp4962Gly) c.14882A>G (p.Asp4961Gly) c.14867A>G (p.Asp4956Gly) c.14897A>G (p.Asp4966Gly) c.14813A>G (p.Asp4938Gly)
19	g.38586122A>T	CA405692863	RYR1	c.1836A>T c.3233A>T c.3205A>T n.293A>T c.14900A>T (p.Asp4967Val) c.14885A>T (p.Asp4962Val) c.14882A>T (p.Asp4961Val) c.14867A>T (p.Asp4956Val) c.14897A>T (p.Asp4966Val) c.14813A>T (p.Asp4938Val)
19	g.38586123C>A	CA405692866	RYR1	c.1837C>A c.3234C>A c.3206C>A n.294C>A c.14901C>A (p.Asp4967Glu) c.14886C>A (p.Asp4962Glu) c.14883C>A (p.Asp4961Glu) c.14868C>A (p.Asp4956Glu) c.14898C>A (p.Asp4966Glu) c.14814C>A (p.Asp4938Glu)	gnomAD v4
19	g.38586123C=	CA2335095562	RYR1	c.1837C= c.3234C= c.3206C= n.294C= c.14901C= (p.Asp4967=) c.14886C= (p.Asp4962=) c.14883C= (p.Asp4961=) c.14868C= (p.Asp4956=) c.14898C= (p.Asp4966=) c.14814C= (p.Asp4938=)
19	g.38586123C>G	CA061783	RYR1	c.1837C>G c.3234C>G c.3206C>G n.294C>G c.14901C>G (p.Asp4967Glu) c.14886C>G (p.Asp4962Glu) c.14883C>G (p.Asp4961Glu) c.14868C>G (p.Asp4956Glu) c.14898C>G (p.Asp4966Glu) c.14814C>G (p.Asp4938Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38586123C>T	CA507246622	RYR1	c.1837C>T c.3234C>T c.3206C>T n.294C>T c.14901C>T (p.Asp4967=) c.14886C>T (p.Asp4962=) c.14883C>T (p.Asp4961=) c.14868C>T (p.Asp4956=) c.14898C>T (p.Asp4966=) c.14814C>T (p.Asp4938=)
19	g.38586124T>A	CA405692878	RYR1	c.1838T>A c.3235T>A c.3207T>A n.295T>A c.14902T>A (p.Tyr4968Asn) c.14887T>A (p.Tyr4963Asn) c.14884T>A (p.Tyr4962Asn) c.14869T>A (p.Tyr4957Asn) c.14899T>A (p.Tyr4967Asn) c.14815T>A (p.Tyr4939Asn)
19	g.38586124T>C	CA405692881	RYR1	c.1838T>C c.3235T>C c.3207T>C n.295T>C c.14902T>C (p.Tyr4968His) c.14887T>C (p.Tyr4963His) c.14884T>C (p.Tyr4962His) c.14869T>C (p.Tyr4957His) c.14899T>C (p.Tyr4967His) c.14815T>C (p.Tyr4939His)	ClinVar
19	g.38586124T>G	CA405692885	RYR1	c.1838T>G c.3235T>G c.3207T>G n.295T>G c.14902T>G (p.Tyr4968Asp) c.14887T>G (p.Tyr4963Asp) c.14884T>G (p.Tyr4962Asp) c.14869T>G (p.Tyr4957Asp) c.14899T>G (p.Tyr4967Asp) c.14815T>G (p.Tyr4939Asp)
19	g.38586125A=	CA2335095563	RYR1	c.1839A= c.3236A= c.3208A= n.296A= c.14903A= (p.Tyr4968=) c.14888A= (p.Tyr4963=) c.14885A= (p.Tyr4962=) c.14870A= (p.Tyr4957=) c.14900A= (p.Tyr4967=) c.14816A= (p.Tyr4939=)
19	g.38586125A>C	CA405692892	RYR1	c.1839A>C c.3236A>C c.3208A>C n.296A>C c.14903A>C (p.Tyr4968Ser) c.14888A>C (p.Tyr4963Ser) c.14885A>C (p.Tyr4962Ser) c.14870A>C (p.Tyr4957Ser) c.14900A>C (p.Tyr4967Ser) c.14816A>C (p.Tyr4939Ser)
19	g.38586125A>G	CA405692896	RYR1	c.1839A>G c.3236A>G c.3208A>G n.296A>G c.14903A>G (p.Tyr4968Cys) c.14888A>G (p.Tyr4963Cys) c.14885A>G (p.Tyr4962Cys) c.14870A>G (p.Tyr4957Cys) c.14900A>G (p.Tyr4967Cys) c.14816A>G (p.Tyr4939Cys)	dbSNP gnomAD v3 gnomAD v4
19	g.38586125A>T	CA405692899	RYR1	c.1839A>T c.3236A>T c.3208A>T n.296A>T c.14903A>T (p.Tyr4968Phe) c.14888A>T (p.Tyr4963Phe) c.14885A>T (p.Tyr4962Phe) c.14870A>T (p.Tyr4957Phe) c.14900A>T (p.Tyr4967Phe) c.14816A>T (p.Tyr4939Phe)
19	g.38586126C>A	CA405692901	RYR1	c.1840C>A c.3237C>A c.3209C>A n.297C>A c.14904C>A (p.Tyr4968Ter) c.14889C>A (p.Tyr4963Ter) c.14886C>A (p.Tyr4962Ter) c.14871C>A (p.Tyr4957Ter) c.14901C>A (p.Tyr4967Ter) c.14817C>A (p.Tyr4939Ter)	ClinVar dbSNP
19	g.38586126C>G	CA081364	RYR1	c.1840C>G c.3237C>G c.3209C>G n.297C>G c.14904C>G (p.Tyr4968Ter) c.14889C>G (p.Tyr4963Ter) c.14886C>G (p.Tyr4962Ter) c.14871C>G (p.Tyr4957Ter) c.14901C>G (p.Tyr4967Ter) c.14817C>G (p.Tyr4939Ter)
19	g.38586126C>T	CA507246623	RYR1	c.1840C>T c.3237C>T c.3209C>T n.297C>T c.14904C>T (p.Tyr4968=) c.14889C>T (p.Tyr4963=) c.14886C>T (p.Tyr4962=) c.14871C>T (p.Tyr4957=) c.14901C>T (p.Tyr4967=) c.14817C>T (p.Tyr4939=)	ClinVar dbSNP gnomAD v4
19	g.38586127T>A	CA405692909	RYR1	c.1841T>A c.3238T>A c.3210T>A n.298T>A c.14905T>A (p.Phe4969Ile) c.14890T>A (p.Phe4964Ile) c.14887T>A (p.Phe4963Ile) c.14872T>A (p.Phe4958Ile) c.14902T>A (p.Phe4968Ile) c.14818T>A (p.Phe4940Ile)
19	g.38586127T>C	CA405692914	RYR1	c.1841T>C c.3238T>C c.3210T>C n.298T>C c.14905T>C (p.Phe4969Leu) c.14890T>C (p.Phe4964Leu) c.14887T>C (p.Phe4963Leu) c.14872T>C (p.Phe4958Leu) c.14902T>C (p.Phe4968Leu) c.14818T>C (p.Phe4940Leu)	ClinVar
19	g.38586127T>G	CA405692911	RYR1	c.1841T>G c.3238T>G c.3210T>G n.298T>G c.14905T>G (p.Phe4969Val) c.14890T>G (p.Phe4964Val) c.14887T>G (p.Phe4963Val) c.14872T>G (p.Phe4958Val) c.14902T>G (p.Phe4968Val) c.14818T>G (p.Phe4940Val)
19	g.38586128T>A	CA405692918	RYR1	c.1842T>A c.3239T>A c.3211T>A n.299T>A c.14906T>A (p.Phe4969Tyr) c.14891T>A (p.Phe4964Tyr) c.14888T>A (p.Phe4963Tyr) c.14873T>A (p.Phe4958Tyr) c.14903T>A (p.Phe4968Tyr) c.14819T>A (p.Phe4940Tyr)
19	g.38586128T>C	CA405692919	RYR1	c.1842T>C c.3239T>C c.3211T>C n.299T>C c.14906T>C (p.Phe4969Ser) c.14891T>C (p.Phe4964Ser) c.14888T>C (p.Phe4963Ser) c.14873T>C (p.Phe4958Ser) c.14903T>C (p.Phe4968Ser) c.14819T>C (p.Phe4940Ser)	gnomAD v4
19	g.38586128T>G	CA405692920	RYR1	c.1842T>G c.3239T>G c.3211T>G n.299T>G c.14906T>G (p.Phe4969Cys) c.14891T>G (p.Phe4964Cys) c.14888T>G (p.Phe4963Cys) c.14873T>G (p.Phe4958Cys) c.14903T>G (p.Phe4968Cys) c.14819T>G (p.Phe4940Cys)
19	g.38586129T>A	CA405692921	RYR1	c.1843T>A c.3240T>A c.3212T>A n.300T>A c.14907T>A (p.Phe4969Leu) c.14892T>A (p.Phe4964Leu) c.14889T>A (p.Phe4963Leu) c.14874T>A (p.Phe4958Leu) c.14904T>A (p.Phe4968Leu) c.14820T>A (p.Phe4940Leu)
19	g.38586129T>C	CA507246625	RYR1	c.1843T>C c.3240T>C c.3212T>C n.300T>C c.14907T>C (p.Phe4969=) c.14892T>C (p.Phe4964=) c.14889T>C (p.Phe4963=) c.14874T>C (p.Phe4958=) c.14904T>C (p.Phe4968=) c.14820T>C (p.Phe4940=)
19	g.38586129T>G	CA405692922	RYR1	c.1843T>G c.3240T>G c.3212T>G n.300T>G c.14907T>G (p.Phe4969Leu) c.14892T>G (p.Phe4964Leu) c.14889T>G (p.Phe4963Leu) c.14874T>G (p.Phe4958Leu) c.14904T>G (p.Phe4968Leu) c.14820T>G (p.Phe4940Leu)	gnomAD v4
19	g.38586130G>A	CA405692924	RYR1	c.1844G>A c.3241G>A c.3213G>A n.301G>A c.14908G>A (p.Asp4970Asn) c.14893G>A (p.Asp4965Asn) c.14890G>A (p.Asp4964Asn) c.14875G>A (p.Asp4959Asn) c.14905G>A (p.Asp4969Asn) c.14821G>A (p.Asp4941Asn)
19	g.38586130G>C	CA405692926	RYR1	c.1844G>C c.3241G>C c.3213G>C n.301G>C c.14908G>C (p.Asp4970His) c.14893G>C (p.Asp4965His) c.14890G>C (p.Asp4964His) c.14875G>C (p.Asp4959His) c.14905G>C (p.Asp4969His) c.14821G>C (p.Asp4941His)
19	g.38586130G>T	CA405692929	RYR1	c.1844G>T c.3241G>T c.3213G>T n.301G>T c.14908G>T (p.Asp4970Tyr) c.14893G>T (p.Asp4965Tyr) c.14890G>T (p.Asp4964Tyr) c.14875G>T (p.Asp4959Tyr) c.14905G>T (p.Asp4969Tyr) c.14821G>T (p.Asp4941Tyr)
19	g.38586131A>C	CA405692930	RYR1	c.1845A>C c.3242A>C c.3214A>C n.302A>C c.14909A>C (p.Asp4970Ala) c.14894A>C (p.Asp4965Ala) c.14891A>C (p.Asp4964Ala) c.14876A>C (p.Asp4959Ala) c.14906A>C (p.Asp4969Ala) c.14822A>C (p.Asp4941Ala)
19	g.38586131A>G	CA405692932	RYR1	c.1845A>G c.3242A>G c.3214A>G n.302A>G c.14909A>G (p.Asp4970Gly) c.14894A>G (p.Asp4965Gly) c.14891A>G (p.Asp4964Gly) c.14876A>G (p.Asp4959Gly) c.14906A>G (p.Asp4969Gly) c.14822A>G (p.Asp4941Gly)
19	g.38586131A>T	CA405692941	RYR1	c.1845A>T c.3242A>T c.3214A>T n.302A>T c.14909A>T (p.Asp4970Val) c.14894A>T (p.Asp4965Val) c.14891A>T (p.Asp4964Val) c.14876A>T (p.Asp4959Val) c.14906A>T (p.Asp4969Val) c.14822A>T (p.Asp4941Val)
19	g.38586132T>A	CA405692955	RYR1	c.1846T>A c.3243T>A c.3215T>A n.303T>A c.14910T>A (p.Asp4970Glu) c.14895T>A (p.Asp4965Glu) c.14892T>A (p.Asp4964Glu) c.14877T>A (p.Asp4959Glu) c.14907T>A (p.Asp4969Glu) c.14823T>A (p.Asp4941Glu)
19	g.38586132T>C	CA507246626	RYR1	c.1846T>C c.3243T>C c.3215T>C n.303T>C c.14910T>C (p.Asp4970=) c.14895T>C (p.Asp4965=) c.14892T>C (p.Asp4964=) c.14877T>C (p.Asp4959=) c.14907T>C (p.Asp4969=) c.14823T>C (p.Asp4941=)	dbSNP
19	g.38586132T>G	CA405692951	RYR1	c.1846T>G c.3243T>G c.3215T>G n.303T>G c.14910T>G (p.Asp4970Glu) c.14895T>G (p.Asp4965Glu) c.14892T>G (p.Asp4964Glu) c.14877T>G (p.Asp4959Glu) c.14907T>G (p.Asp4969Glu) c.14823T>G (p.Asp4941Glu)
19	g.38586132T=	CA2335095564	RYR1	c.1846T= c.3243T= c.3215T= n.303T= c.14910T= (p.Asp4970=) c.14895T= (p.Asp4965=) c.14892T= (p.Asp4964=) c.14877T= (p.Asp4959=) c.14907T= (p.Asp4969=) c.14823T= (p.Asp4941=)
19	g.38586133A=	CA2335095565	RYR1	c.1847A= c.3244A= c.3216A= n.304A= c.14911A= (p.Thr4971=) c.14896A= (p.Thr4966=) c.14893A= (p.Thr4965=) c.14878A= (p.Thr4960=) c.14908A= (p.Thr4970=) c.14824A= (p.Thr4942=)
19	g.38586133A>C	CA405692966	RYR1	c.1847A>C c.3244A>C c.3216A>C n.304A>C c.14911A>C (p.Thr4971Pro) c.14896A>C (p.Thr4966Pro) c.14893A>C (p.Thr4965Pro) c.14878A>C (p.Thr4960Pro) c.14908A>C (p.Thr4970Pro) c.14824A>C (p.Thr4942Pro)
19	g.38586133A>G	CA061791	RYR1	c.1847A>G c.3244A>G c.3216A>G n.304A>G c.14911A>G (p.Thr4971Ala) c.14896A>G (p.Thr4966Ala) c.14893A>G (p.Thr4965Ala) c.14878A>G (p.Thr4960Ala) c.14908A>G (p.Thr4970Ala) c.14824A>G (p.Thr4942Ala)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19	g.38586133A>T	CA405692968	RYR1	c.1847A>T c.3244A>T c.3216A>T n.304A>T c.14911A>T (p.Thr4971Ser) c.14896A>T (p.Thr4966Ser) c.14893A>T (p.Thr4965Ser) c.14878A>T (p.Thr4960Ser) c.14908A>T (p.Thr4970Ser) c.14824A>T (p.Thr4942Ser)
19	g.38586134C>A	CA405692973	RYR1	c.1848C>A c.3245C>A c.3217C>A n.305C>A c.14912C>A (p.Thr4971Lys) c.14897C>A (p.Thr4966Lys) c.14894C>A (p.Thr4965Lys) c.14879C>A (p.Thr4960Lys) c.14909C>A (p.Thr4970Lys) c.14825C>A (p.Thr4942Lys)
19	g.38586134C=	CA2335095566	RYR1	c.1848C= c.3245C= c.3217C= n.305C= c.14912C= (p.Thr4971=) c.14897C= (p.Thr4966=) c.14894C= (p.Thr4965=) c.14879C= (p.Thr4960=) c.14909C= (p.Thr4970=) c.14825C= (p.Thr4942=)
19	g.38586134C>G	CA405692976	RYR1	c.1848C>G c.3245C>G c.3217C>G n.305C>G c.14912C>G (p.Thr4971Arg) c.14897C>G (p.Thr4966Arg) c.14894C>G (p.Thr4965Arg) c.14879C>G (p.Thr4960Arg) c.14909C>G (p.Thr4970Arg) c.14825C>G (p.Thr4942Arg)
19	g.38586134C>T	CA061796	RYR1	c.1848C>T c.3245C>T c.3217C>T n.305C>T c.14912C>T (p.Thr4971Met) c.14897C>T (p.Thr4966Met) c.14894C>T (p.Thr4965Met) c.14879C>T (p.Thr4960Met) c.14909C>T (p.Thr4970Met) c.14825C>T (p.Thr4942Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38586135G>A	CA061797	RYR1	c.1849G>A c.3246G>A c.3218G>A n.306G>A c.14913G>A (p.Thr4971=) c.14898G>A (p.Thr4966=) c.14895G>A (p.Thr4965=) c.14880G>A (p.Thr4960=) c.14910G>A (p.Thr4970=) c.14826G>A (p.Thr4942=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.38586135G>C	CA507246629	RYR1	c.1849G>C c.3246G>C c.3218G>C n.306G>C c.14913G>C (p.Thr4971=) c.14898G>C (p.Thr4966=) c.14895G>C (p.Thr4965=) c.14880G>C (p.Thr4960=) c.14910G>C (p.Thr4970=) c.14826G>C (p.Thr4942=)	ClinVar
19	g.38586135G=	CA2335095567	RYR1	c.1849G= c.3246G= c.3218G= n.306G= c.14913G= (p.Thr4971=) c.14898G= (p.Thr4966=) c.14895G= (p.Thr4965=) c.14880G= (p.Thr4960=) c.14910G= (p.Thr4970=) c.14826G= (p.Thr4942=)
19	g.38586135G>T	CA507246630	RYR1	c.1849G>T c.3246G>T c.3218G>T n.306G>T c.14913G>T (p.Thr4971=) c.14898G>T (p.Thr4966=) c.14895G>T (p.Thr4965=) c.14880G>T (p.Thr4960=) c.14910G>T (p.Thr4970=) c.14826G>T (p.Thr4942=)
19	g.38586136del	CA081349	RYR1	c.1850del c.3247del c.3219del n.307del c.14914del (p.Thr4972HisfsTer22) c.14899del (p.Thr4967HisfsTer22) c.14896del (p.Thr4966HisfsTer22) c.14881del (p.Thr4961HisfsTer22) c.14911del (p.Thr4971HisfsTer22) c.14827del (p.Thr4943HisfsTer22)
19	g.38586136A=	CA2335095568	RYR1	c.1850A= c.3247A= c.3219A= n.307A= c.14914A= (p.Thr4972=) c.14899A= (p.Thr4967=) c.14896A= (p.Thr4966=) c.14881A= (p.Thr4961=) c.14911A= (p.Thr4971=) c.14827A= (p.Thr4943=)
19	g.38586136A>C	CA405692983	RYR1	c.1850A>C c.3247A>C c.3219A>C n.307A>C c.14914A>C (p.Thr4972Pro) c.14899A>C (p.Thr4967Pro) c.14896A>C (p.Thr4966Pro) c.14881A>C (p.Thr4961Pro) c.14911A>C (p.Thr4971Pro) c.14827A>C (p.Thr4943Pro)
19	g.38586136A>G	CA081365	RYR1	c.1850A>G c.3247A>G c.3219A>G n.307A>G c.14914A>G (p.Thr4972Ala) c.14899A>G (p.Thr4967Ala) c.14896A>G (p.Thr4966Ala) c.14881A>G (p.Thr4961Ala) c.14911A>G (p.Thr4971Ala) c.14827A>G (p.Thr4943Ala)	gnomAD v4
19	g.38586136A>T	CA061802	RYR1	c.1850A>T c.3247A>T c.3219A>T n.307A>T c.14914A>T (p.Thr4972Ser) c.14899A>T (p.Thr4967Ser) c.14896A>T (p.Thr4966Ser) c.14881A>T (p.Thr4961Ser) c.14911A>T (p.Thr4971Ser) c.14827A>T (p.Thr4943Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.38586137C>A	CA405692992	RYR1	c.1851C>A c.3248C>A c.3220C>A n.308C>A c.14915C>A (p.Thr4972Lys) c.14900C>A (p.Thr4967Lys) c.14897C>A (p.Thr4966Lys) c.14882C>A (p.Thr4961Lys) c.14912C>A (p.Thr4971Lys) c.14828C>A (p.Thr4943Lys)
19	g.38586137C=	CA2335095569	RYR1	c.1851C= c.3248C= c.3220C= n.308C= c.14915C= (p.Thr4972=) c.14900C= (p.Thr4967=) c.14897C= (p.Thr4966=) c.14882C= (p.Thr4961=) c.14912C= (p.Thr4971=) c.14828C= (p.Thr4943=)
19	g.38586137C>G	CA405692994	RYR1	c.1851C>G c.3248C>G c.3220C>G n.308C>G c.14915C>G (p.Thr4972Arg) c.14900C>G (p.Thr4967Arg) c.14897C>G (p.Thr4966Arg) c.14882C>G (p.Thr4961Arg) c.14912C>G (p.Thr4971Arg) c.14828C>G (p.Thr4943Arg)
19	g.38586137C>T	CA061806	RYR1	c.1851C>T c.3248C>T c.3220C>T n.308C>T c.14915C>T (p.Thr4972Ile) c.14900C>T (p.Thr4967Ile) c.14897C>T (p.Thr4966Ile) c.14882C>T (p.Thr4961Ile) c.14912C>T (p.Thr4971Ile) c.14828C>T (p.Thr4943Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38586138A>C	CA507246634	RYR1	c.1852A>C c.3249A>C c.3221A>C n.309A>C c.14916A>C (p.Thr4972=) c.14901A>C (p.Thr4967=) c.14898A>C (p.Thr4966=) c.14883A>C (p.Thr4961=) c.14913A>C (p.Thr4971=) c.14829A>C (p.Thr4943=)
19	g.38586138A>G	CA507246636	RYR1	c.1852A>G c.3249A>G c.3221A>G n.309A>G c.14916A>G (p.Thr4972=) c.14901A>G (p.Thr4967=) c.14898A>G (p.Thr4966=) c.14883A>G (p.Thr4961=) c.14913A>G (p.Thr4971=) c.14829A>G (p.Thr4943=)	gnomAD v4
19	g.38586138A>T	CA507246635	RYR1	c.1852A>T c.3249A>T c.3221A>T n.309A>T c.14916A>T (p.Thr4972=) c.14901A>T (p.Thr4967=) c.14898A>T (p.Thr4966=) c.14883A>T (p.Thr4961=) c.14913A>T (p.Thr4971=) c.14829A>T (p.Thr4943=)
19	g.38586139C>A	CA405693004	RYR1	c.1853C>A c.3250C>A c.3222C>A n.310C>A c.14917C>A (p.Pro4973Thr) c.14902C>A (p.Pro4968Thr) c.14899C>A (p.Pro4967Thr) c.14884C>A (p.Pro4962Thr) c.14914C>A (p.Pro4972Thr) c.14830C>A (p.Pro4944Thr)
19	g.38586139C=	CA2335095570	RYR1	c.1853C= c.3250C= c.3222C= n.310C= c.14917C= (p.Pro4973=) c.14902C= (p.Pro4968=) c.14899C= (p.Pro4967=) c.14884C= (p.Pro4962=) c.14914C= (p.Pro4972=) c.14830C= (p.Pro4944=)
19	g.38586139C>G	CA405693003	RYR1	c.1853C>G c.3250C>G c.3222C>G n.310C>G c.14917C>G (p.Pro4973Ala) c.14902C>G (p.Pro4968Ala) c.14899C>G (p.Pro4967Ala) c.14884C>G (p.Pro4962Ala) c.14914C>G (p.Pro4972Ala) c.14830C>G (p.Pro4944Ala)	dbSNP gnomAD v3 gnomAD v4
19	g.38586139C>T	CA081367	RYR1	c.1853C>T c.3250C>T c.3222C>T n.310C>T c.14917C>T (p.Pro4973Ser) c.14902C>T (p.Pro4968Ser) c.14899C>T (p.Pro4967Ser) c.14884C>T (p.Pro4962Ser) c.14914C>T (p.Pro4972Ser) c.14830C>T (p.Pro4944Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38586140C>A	CA405693007	RYR1	c.1854C>A c.3251C>A c.3223C>A n.311C>A c.14918C>A (p.Pro4973Gln) c.14903C>A (p.Pro4968Gln) c.14900C>A (p.Pro4967Gln) c.14885C>A (p.Pro4962Gln) c.14915C>A (p.Pro4972Gln) c.14831C>A (p.Pro4944Gln)
19	g.38586140C=	CA2335095571	RYR1	c.1854C= c.3251C= c.3223C= n.311C= c.14918C= (p.Pro4973=) c.14903C= (p.Pro4968=) c.14900C= (p.Pro4967=) c.14885C= (p.Pro4962=) c.14915C= (p.Pro4972=) c.14831C= (p.Pro4944=)
19	g.38586140C>G	CA405693009	RYR1	c.1854C>G c.3251C>G c.3223C>G n.311C>G c.14918C>G (p.Pro4973Arg) c.14903C>G (p.Pro4968Arg) c.14900C>G (p.Pro4967Arg) c.14885C>G (p.Pro4962Arg) c.14915C>G (p.Pro4972Arg) c.14831C>G (p.Pro4944Arg)
19	g.38586140C>T	CA024276	RYR1	c.1854C>T c.3251C>T c.3223C>T n.311C>T c.14918C>T (p.Pro4973Leu) c.14903C>T (p.Pro4968Leu) c.14900C>T (p.Pro4967Leu) c.14885C>T (p.Pro4962Leu) c.14915C>T (p.Pro4972Leu) c.14831C>T (p.Pro4944Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.38586141G>A	CA061814	RYR1	c.1855G>A c.3252G>A c.3224G>A n.312G>A c.14919G>A (p.Pro4973=) c.14904G>A (p.Pro4968=) c.14901G>A (p.Pro4967=) c.14886G>A (p.Pro4962=) c.14916G>A (p.Pro4972=) c.14832G>A (p.Pro4944=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.38586141G>C	CA507246637	RYR1	c.1855G>C c.3252G>C c.3224G>C n.312G>C c.14919G>C (p.Pro4973=) c.14904G>C (p.Pro4968=) c.14901G>C (p.Pro4967=) c.14886G>C (p.Pro4962=) c.14916G>C (p.Pro4972=) c.14832G>C (p.Pro4944=)
19	g.38586141G=	CA2335095572	RYR1	c.1855G= c.3252G= c.3224G= n.312G= c.14919G= (p.Pro4973=) c.14904G= (p.Pro4968=) c.14901G= (p.Pro4967=) c.14886G= (p.Pro4962=) c.14916G= (p.Pro4972=) c.14832G= (p.Pro4944=)
19	g.38586141G>T	CA507246638	RYR1	c.1855G>T c.3252G>T c.3224G>T n.312G>T c.14919G>T (p.Pro4973=) c.14904G>T (p.Pro4968=) c.14901G>T (p.Pro4967=) c.14886G>T (p.Pro4962=) c.14916G>T (p.Pro4972=) c.14832G>T (p.Pro4944=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38586142C>A	CA405693018	RYR1	c.1856C>A c.3253C>A c.3225C>A n.313C>A c.14920C>A (p.His4974Asn) c.14905C>A (p.His4969Asn) c.14902C>A (p.His4968Asn) c.14887C>A (p.His4963Asn) c.14917C>A (p.His4973Asn) c.14833C>A (p.His4945Asn)
19	g.38586142C>G	CA405693021	RYR1	c.1856C>G c.3253C>G c.3225C>G n.313C>G c.14920C>G (p.His4974Asp) c.14905C>G (p.His4969Asp) c.14902C>G (p.His4968Asp) c.14887C>G (p.His4963Asp) c.14917C>G (p.His4973Asp) c.14833C>G (p.His4945Asp)
19	g.38586142C>T	CA081368	RYR1	c.1856C>T c.3253C>T c.3225C>T n.313C>T c.14920C>T (p.His4974Tyr) c.14905C>T (p.His4969Tyr) c.14902C>T (p.His4968Tyr) c.14887C>T (p.His4963Tyr) c.14917C>T (p.His4973Tyr) c.14833C>T (p.His4945Tyr)	gnomAD v4
19	g.38586143A=	CA2335095573	RYR1	c.1857A= c.3254A= c.3226A= n.314A= c.14921A= (p.His4974=) c.14906A= (p.His4969=) c.14903A= (p.His4968=) c.14888A= (p.His4963=) c.14918A= (p.His4973=) c.14834A= (p.His4945=)
19	g.38586143A>C	CA405693028	RYR1	c.1857A>C c.3254A>C c.3226A>C n.314A>C c.14921A>C (p.His4974Pro) c.14906A>C (p.His4969Pro) c.14903A>C (p.His4968Pro) c.14888A>C (p.His4963Pro) c.14918A>C (p.His4973Pro) c.14834A>C (p.His4945Pro)
19	g.38586143A>G	CA061818	RYR1	c.1857A>G c.3254A>G c.3226A>G n.314A>G c.14921A>G (p.His4974Arg) c.14906A>G (p.His4969Arg) c.14903A>G (p.His4968Arg) c.14888A>G (p.His4963Arg) c.14918A>G (p.His4973Arg) c.14834A>G (p.His4945Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.38586143A>T	CA405693032	RYR1	c.1857A>T c.3254A>T c.3226A>T n.314A>T c.14921A>T (p.His4974Leu) c.14906A>T (p.His4969Leu) c.14903A>T (p.His4968Leu) c.14888A>T (p.His4963Leu) c.14918A>T (p.His4973Leu) c.14834A>T (p.His4945Leu)	gnomAD v4
19	g.38586144T>A	CA405693036	RYR1	c.1858T>A c.3255T>A c.3227T>A n.315T>A c.14922T>A (p.His4974Gln) c.14907T>A (p.His4969Gln) c.14904T>A (p.His4968Gln) c.14889T>A (p.His4963Gln) c.14919T>A (p.His4973Gln) c.14835T>A (p.His4945Gln)
19	g.38586144T>C	CA507246642	RYR1	c.1858T>C c.3255T>C c.3227T>C n.315T>C c.14922T>C (p.His4974=) c.14907T>C (p.His4969=) c.14904T>C (p.His4968=) c.14889T>C (p.His4963=) c.14919T>C (p.His4973=) c.14835T>C (p.His4945=)	gnomAD v4
19	g.38586144T>G	CA405693042	RYR1	c.1858T>G c.3255T>G c.3227T>G n.315T>G c.14922T>G (p.His4974Gln) c.14907T>G (p.His4969Gln) c.14904T>G (p.His4968Gln) c.14889T>G (p.His4963Gln) c.14919T>G (p.His4973Gln) c.14835T>G (p.His4945Gln)
19	g.38586145G>A	CA405693052	RYR1	c.1859G>A c.3256G>A c.3228G>A n.316G>A c.14923G>A (p.Gly4975Ser) c.14908G>A (p.Gly4970Ser) c.14905G>A (p.Gly4969Ser) c.14890G>A (p.Gly4964Ser) c.14920G>A (p.Gly4974Ser) c.14836G>A (p.Gly4946Ser)
19	g.38586145G>C	CA405693059	RYR1	c.1859G>C c.3256G>C c.3228G>C n.316G>C c.14923G>C (p.Gly4975Arg) c.14908G>C (p.Gly4970Arg) c.14905G>C (p.Gly4969Arg) c.14890G>C (p.Gly4964Arg) c.14920G>C (p.Gly4974Arg) c.14836G>C (p.Gly4946Arg)
19	g.38586145G>T	CA405693048	RYR1	c.1859G>T c.3256G>T c.3228G>T n.316G>T c.14923G>T (p.Gly4975Cys) c.14908G>T (p.Gly4970Cys) c.14905G>T (p.Gly4969Cys) c.14890G>T (p.Gly4964Cys) c.14920G>T (p.Gly4974Cys) c.14836G>T (p.Gly4946Cys)	COSMIC
19	g.38586146G>A	CA405693060	RYR1	c.1860G>A c.3257G>A c.3229G>A n.317G>A c.14924G>A (p.Gly4975Asp) c.14909G>A (p.Gly4970Asp) c.14906G>A (p.Gly4969Asp) c.14891G>A (p.Gly4964Asp) c.14921G>A (p.Gly4974Asp) c.14837G>A (p.Gly4946Asp)	gnomAD v4
19	g.38586146G>C	CA405693063	RYR1	c.1860G>C c.3257G>C c.3229G>C n.317G>C c.14924G>C (p.Gly4975Ala) c.14909G>C (p.Gly4970Ala) c.14906G>C (p.Gly4969Ala) c.14891G>C (p.Gly4964Ala) c.14921G>C (p.Gly4974Ala) c.14837G>C (p.Gly4946Ala)
19	g.38586146G>T	CA405693066	RYR1	c.1860G>T c.3257G>T c.3229G>T n.317G>T c.14924G>T (p.Gly4975Val) c.14909G>T (p.Gly4970Val) c.14906G>T (p.Gly4969Val) c.14891G>T (p.Gly4964Val) c.14921G>T (p.Gly4974Val) c.14837G>T (p.Gly4946Val)
19	g.38586147C>A	CA507246643	RYR1	c.1861C>A c.3258C>A c.3230C>A n.318C>A c.14925C>A (p.Gly4975=) c.14910C>A (p.Gly4970=) c.14907C>A (p.Gly4969=) c.14892C>A (p.Gly4964=) c.14922C>A (p.Gly4974=) c.14838C>A (p.Gly4946=)
19	g.38586147C=	CA2335095574	RYR1	c.1861C= c.3258C= c.3230C= n.318C= c.14925C= (p.Gly4975=) c.14910C= (p.Gly4970=) c.14907C= (p.Gly4969=) c.14892C= (p.Gly4964=) c.14922C= (p.Gly4974=) c.14838C= (p.Gly4946=)
19	g.38586147C>G	CA507246644	RYR1	c.1861C>G c.3258C>G c.3230C>G n.318C>G c.14925C>G (p.Gly4975=) c.14910C>G (p.Gly4970=) c.14907C>G (p.Gly4969=) c.14892C>G (p.Gly4964=) c.14922C>G (p.Gly4974=) c.14838C>G (p.Gly4946=)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.38586147C>T	CA507246645	RYR1	c.1861C>T c.3258C>T c.3230C>T n.318C>T c.14925C>T (p.Gly4975=) c.14910C>T (p.Gly4970=) c.14907C>T (p.Gly4969=) c.14892C>T (p.Gly4964=) c.14922C>T (p.Gly4974=) c.14838C>T (p.Gly4946=)
19	g.38586148T>A	CA405693070	RYR1	c.1862T>A c.3259T>A c.3231T>A n.319T>A c.14926T>A (p.Phe4976Ile) c.14911T>A (p.Phe4971Ile) c.14908T>A (p.Phe4970Ile) c.14893T>A (p.Phe4965Ile) c.14923T>A (p.Phe4975Ile) c.14839T>A (p.Phe4947Ile)
19	g.38586148T>C	CA405693071	RYR1	c.1862T>C c.3259T>C c.3231T>C n.319T>C c.14926T>C (p.Phe4976Leu) c.14911T>C (p.Phe4971Leu) c.14908T>C (p.Phe4970Leu) c.14893T>C (p.Phe4965Leu) c.14923T>C (p.Phe4975Leu) c.14839T>C (p.Phe4947Leu)
19	g.38586148T>G	CA405693072	RYR1	c.1862T>G c.3259T>G c.3231T>G n.319T>G c.14926T>G (p.Phe4976Val) c.14911T>G (p.Phe4971Val) c.14908T>G (p.Phe4970Val) c.14893T>G (p.Phe4965Val) c.14923T>G (p.Phe4975Val) c.14839T>G (p.Phe4947Val)
19	g.38586149T>A	CA405693077	RYR1	c.1863T>A c.3260T>A c.3232T>A n.320T>A c.14927T>A (p.Phe4976Tyr) c.14912T>A (p.Phe4971Tyr) c.14909T>A (p.Phe4970Tyr) c.14894T>A (p.Phe4965Tyr) c.14924T>A (p.Phe4975Tyr) c.14840T>A (p.Phe4947Tyr)
19	g.38586149T>C	CA405693073	RYR1	c.1863T>C c.3260T>C c.3232T>C n.320T>C c.14927T>C (p.Phe4976Ser) c.14912T>C (p.Phe4971Ser) c.14909T>C (p.Phe4970Ser) c.14894T>C (p.Phe4965Ser) c.14924T>C (p.Phe4975Ser) c.14840T>C (p.Phe4947Ser)	COSMIC
19	g.38586149T>G	CA405693075	RYR1	c.1863T>G c.3260T>G c.3232T>G n.320T>G c.14927T>G (p.Phe4976Cys) c.14912T>G (p.Phe4971Cys) c.14909T>G (p.Phe4970Cys) c.14894T>G (p.Phe4965Cys) c.14924T>G (p.Phe4975Cys) c.14840T>G (p.Phe4947Cys)
19	g.38586150C>A	CA308126717	RYR1	c.1864C>A c.3261C>A c.3233C>A n.321C>A c.14928C>A (p.Phe4976Leu) c.14913C>A (p.Phe4971Leu) c.14910C>A (p.Phe4970Leu) c.14895C>A (p.Phe4965Leu) c.14925C>A (p.Phe4975Leu) c.14841C>A (p.Phe4947Leu)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38586150C=	CA2335095575	RYR1	c.1864C= c.3261C= c.3233C= n.321C= c.14928C= (p.Phe4976=) c.14913C= (p.Phe4971=) c.14910C= (p.Phe4970=) c.14895C= (p.Phe4965=) c.14925C= (p.Phe4975=) c.14841C= (p.Phe4947=)
19	g.38586150C>G	CA024278	RYR1	c.1864C>G c.3261C>G c.3233C>G n.321C>G c.14928C>G (p.Phe4976Leu) c.14913C>G (p.Phe4971Leu) c.14910C>G (p.Phe4970Leu) c.14895C>G (p.Phe4965Leu) c.14925C>G (p.Phe4975Leu) c.14841C>G (p.Phe4947Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38586150C>T	CA507246649	RYR1	c.1864C>T c.3261C>T c.3233C>T n.321C>T c.14928C>T (p.Phe4976=) c.14913C>T (p.Phe4971=) c.14910C>T (p.Phe4970=) c.14895C>T (p.Phe4965=) c.14925C>T (p.Phe4975=) c.14841C>T (p.Phe4947=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38586151G>A	CA405693081	RYR1	c.1865G>A c.3262G>A c.3234G>A n.322G>A c.14929G>A (p.Glu4977Lys) c.14914G>A (p.Glu4972Lys) c.14911G>A (p.Glu4971Lys) c.14896G>A (p.Glu4966Lys) c.14926G>A (p.Glu4976Lys) c.14842G>A (p.Glu4948Lys)	dbSNP gnomAD v4 COSMIC
19	g.38586151G>C	CA212107	RYR1	c.1865G>C c.3262G>C c.3234G>C n.322G>C c.14929G>C (p.Glu4977Gln) c.14914G>C (p.Glu4972Gln) c.14911G>C (p.Glu4971Gln) c.14896G>C (p.Glu4966Gln) c.14926G>C (p.Glu4976Gln) c.14842G>C (p.Glu4948Gln)	ClinVar dbSNP
19	g.38586151G=	CA2335095576	RYR1	c.1865G= c.3262G= c.3234G= n.322G= c.14929G= (p.Glu4977=) c.14914G= (p.Glu4972=) c.14911G= (p.Glu4971=) c.14896G= (p.Glu4966=) c.14926G= (p.Glu4976=) c.14842G= (p.Glu4948=)
19	g.38586151G>T	CA405693085	RYR1	c.1865G>T c.3262G>T c.3234G>T n.322G>T c.14929G>T (p.Glu4977Ter) c.14914G>T (p.Glu4972Ter) c.14911G>T (p.Glu4971Ter) c.14896G>T (p.Glu4966Ter) c.14926G>T (p.Glu4976Ter) c.14842G>T (p.Glu4948Ter)
19	g.38586152A>C	CA405693100	RYR1	c.1866A>C c.3263A>C c.3235A>C n.323A>C c.14930A>C (p.Glu4977Ala) c.14915A>C (p.Glu4972Ala) c.14912A>C (p.Glu4971Ala) c.14897A>C (p.Glu4966Ala) c.14927A>C (p.Glu4976Ala) c.14843A>C (p.Glu4948Ala)
19	g.38586152A>G	CA405693104	RYR1	c.1866A>G c.3263A>G c.3235A>G n.323A>G c.14930A>G (p.Glu4977Gly) c.14915A>G (p.Glu4972Gly) c.14912A>G (p.Glu4971Gly) c.14897A>G (p.Glu4966Gly) c.14927A>G (p.Glu4976Gly) c.14843A>G (p.Glu4948Gly)
19	g.38586152A>T	CA405693103	RYR1	c.1866A>T c.3263A>T c.3235A>T n.323A>T c.14930A>T (p.Glu4977Val) c.14915A>T (p.Glu4972Val) c.14912A>T (p.Glu4971Val) c.14897A>T (p.Glu4966Val) c.14927A>T (p.Glu4976Val) c.14843A>T (p.Glu4948Val)
19	g.38586153G>A	CA507246650	RYR1	c.1867G>A c.3264G>A c.3236G>A n.324G>A c.14931G>A (p.Glu4977=) c.14916G>A (p.Glu4972=) c.14913G>A (p.Glu4971=) c.14898G>A (p.Glu4966=) c.14928G>A (p.Glu4976=) c.14844G>A (p.Glu4948=)
19	g.38586153G>C	CA405693105	RYR1	c.1867G>C c.3264G>C c.3236G>C n.324G>C c.14931G>C (p.Glu4977Asp) c.14916G>C (p.Glu4972Asp) c.14913G>C (p.Glu4971Asp) c.14898G>C (p.Glu4966Asp) c.14928G>C (p.Glu4976Asp) c.14844G>C (p.Glu4948Asp)
19	g.38586153G>T	CA405693109	RYR1	c.1867G>T c.3264G>T c.3236G>T n.324G>T c.14931G>T (p.Glu4977Asp) c.14916G>T (p.Glu4972Asp) c.14913G>T (p.Glu4971Asp) c.14898G>T (p.Glu4966Asp) c.14928G>T (p.Glu4976Asp) c.14844G>T (p.Glu4948Asp)	COSMIC
19	g.38586154A=	CA2335095577	RYR1	c.1868A= c.3265A= c.3237A= n.325A= c.14932A= (p.Thr4978=) c.14917A= (p.Thr4973=) c.14914A= (p.Thr4972=) c.14899A= (p.Thr4967=) c.14929A= (p.Thr4977=) c.14845A= (p.Thr4949=)
19	g.38586154A>C	CA405693120	RYR1	c.1868A>C c.3265A>C c.3237A>C n.325A>C c.14932A>C (p.Thr4978Pro) c.14917A>C (p.Thr4973Pro) c.14914A>C (p.Thr4972Pro) c.14899A>C (p.Thr4967Pro) c.14929A>C (p.Thr4977Pro) c.14845A>C (p.Thr4949Pro)
19	g.38586154A>G	CA061827	RYR1	c.1868A>G c.3265A>G c.3237A>G n.325A>G c.14932A>G (p.Thr4978Ala) c.14917A>G (p.Thr4973Ala) c.14914A>G (p.Thr4972Ala) c.14899A>G (p.Thr4967Ala) c.14929A>G (p.Thr4977Ala) c.14845A>G (p.Thr4949Ala)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38586154A>T	CA405693128	RYR1	c.1868A>T c.3265A>T c.3237A>T n.325A>T c.14932A>T (p.Thr4978Ser) c.14917A>T (p.Thr4973Ser) c.14914A>T (p.Thr4972Ser) c.14899A>T (p.Thr4967Ser) c.14929A>T (p.Thr4977Ser) c.14845A>T (p.Thr4949Ser)
19	g.38586155C>A	CA405693130	RYR1	c.1869C>A c.3266C>A c.3238C>A n.326C>A c.14933C>A (p.Thr4978Asn) c.14918C>A (p.Thr4973Asn) c.14915C>A (p.Thr4972Asn) c.14900C>A (p.Thr4967Asn) c.14930C>A (p.Thr4977Asn) c.14846C>A (p.Thr4949Asn)
19	g.38586155C>G	CA405693131	RYR1	c.1869C>G c.3266C>G c.3238C>G n.326C>G c.14933C>G (p.Thr4978Ser) c.14918C>G (p.Thr4973Ser) c.14915C>G (p.Thr4972Ser) c.14900C>G (p.Thr4967Ser) c.14930C>G (p.Thr4977Ser) c.14846C>G (p.Thr4949Ser)
19	g.38586155C>T	CA405693133	RYR1	c.1869C>T c.3266C>T c.3238C>T n.326C>T c.14933C>T (p.Thr4978Ile) c.14918C>T (p.Thr4973Ile) c.14915C>T (p.Thr4972Ile) c.14900C>T (p.Thr4967Ile) c.14930C>T (p.Thr4977Ile) c.14846C>T (p.Thr4949Ile)
19	g.38586156_38586157del	CA2584911437	RYR1	c.1870_1871del c.3267_3268del c.3239_3240del n.327_328del c.14934_14935del (p.Thr4980AlafsTer21) c.14919_14920del (p.Thr4975AlafsTer21) c.14916_14917del (p.Thr4974AlafsTer21) c.14901_14902del (p.Thr4969AlafsTer21) c.14931_14932del (p.Thr4979AlafsTer21) c.14847_14848del (p.Thr4951AlafsTer21)	gnomAD v4
19	g.38586156T>A	CA061832	RYR1	c.1870T>A c.3267T>A c.3239T>A n.327T>A c.14934T>A (p.Thr4978=) c.14919T>A (p.Thr4973=) c.14916T>A (p.Thr4972=) c.14901T>A (p.Thr4967=) c.14931T>A (p.Thr4977=) c.14847T>A (p.Thr4949=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.38586156T>C	CA507246651	RYR1	c.1870T>C c.3267T>C c.3239T>C n.327T>C c.14934T>C (p.Thr4978=) c.14919T>C (p.Thr4973=) c.14916T>C (p.Thr4972=) c.14901T>C (p.Thr4967=) c.14931T>C (p.Thr4977=) c.14847T>C (p.Thr4949=)
19	g.38586156T>G	CA507246652	RYR1	c.1870T>G c.3267T>G c.3239T>G n.327T>G c.14934T>G (p.Thr4978=) c.14919T>G (p.Thr4973=) c.14916T>G (p.Thr4972=) c.14901T>G (p.Thr4967=) c.14931T>G (p.Thr4977=) c.14847T>G (p.Thr4949=)
19	g.38586156T=	CA2335095578	RYR1	c.1870T= c.3267T= c.3239T= n.327T= c.14934T= (p.Thr4978=) c.14919T= (p.Thr4973=) c.14916T= (p.Thr4972=) c.14901T= (p.Thr4967=) c.14931T= (p.Thr4977=) c.14847T= (p.Thr4949=)
19	g.38586156_38586158delinsTCA	CA2335095579	RYR1	c.1870_1872delinsTCA c.3267_3269delinsTCA c.3239_3241delinsTCA n.327_329delinsTCA c.14934_14936delinsTCA (p.Thr4978=) c.14919_14921delinsTCA (p.Thr4973=) c.14916_14918delinsTCA (p.Thr4972=) c.14901_14903delinsTCA (p.Thr4967=) c.14931_14933delinsTCA (p.Thr4977=) c.14847_14849delinsTCA (p.Thr4949=)
19	g.38586157C>A	CA405693148	RYR1	c.1871C>A c.3268C>A c.3240C>A n.328C>A c.14935C>A (p.His4979Asn) c.14920C>A (p.His4974Asn) c.14917C>A (p.His4973Asn) c.14902C>A (p.His4968Asn) c.14932C>A (p.His4978Asn) c.14848C>A (p.His4950Asn)
19	g.38586157C=	CA2335095580	RYR1	c.1871C= c.3268C= c.3240C= n.328C= c.14935C= (p.His4979=) c.14920C= (p.His4974=) c.14917C= (p.His4973=) c.14902C= (p.His4968=) c.14932C= (p.His4978=) c.14848C= (p.His4950=)
19	g.38586157C>G	CA405693152	RYR1	c.1871C>G c.3268C>G c.3240C>G n.328C>G c.14935C>G (p.His4979Asp) c.14920C>G (p.His4974Asp) c.14917C>G (p.His4973Asp) c.14902C>G (p.His4968Asp) c.14932C>G (p.His4978Asp) c.14848C>G (p.His4950Asp)
19	g.38586157C>T	CA405693155	RYR1	c.1871C>T c.3268C>T c.3240C>T n.328C>T c.14935C>T (p.His4979Tyr) c.14920C>T (p.His4974Tyr) c.14917C>T (p.His4973Tyr) c.14902C>T (p.His4968Tyr) c.14932C>T (p.His4978Tyr) c.14848C>T (p.His4950Tyr)	dbSNP gnomAD v3 gnomAD v4
19	g.38586160_38586161del	CA632878118	RYR1	c.1874_1875del c.3271_3272del c.3243_3244del n.331_332del c.14938_14939del (p.Thr4980AlafsTer21) c.14923_14924del (p.Thr4975AlafsTer21) c.14920_14921del (p.Thr4974AlafsTer21) c.14905_14906del (p.Thr4969AlafsTer21) c.14935_14936del (p.Thr4979AlafsTer21) c.14851_14852del (p.Thr4951AlafsTer21)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.38586158A>C	CA405693160	RYR1	c.1872A>C c.3269A>C c.3241A>C n.329A>C c.14936A>C (p.His4979Pro) c.14921A>C (p.His4974Pro) c.14918A>C (p.His4973Pro) c.14903A>C (p.His4968Pro) c.14933A>C (p.His4978Pro) c.14849A>C (p.His4950Pro)	gnomAD v4
19	g.38586158A>G	CA405693161	RYR1	c.1872A>G c.3269A>G c.3241A>G n.329A>G c.14936A>G (p.His4979Arg) c.14921A>G (p.His4974Arg) c.14918A>G (p.His4973Arg) c.14903A>G (p.His4968Arg) c.14933A>G (p.His4978Arg) c.14849A>G (p.His4950Arg)
19	g.38586158A>T	CA405693159	RYR1	c.1872A>T c.3269A>T c.3241A>T n.329A>T c.14936A>T (p.His4979Leu) c.14921A>T (p.His4974Leu) c.14918A>T (p.His4973Leu) c.14903A>T (p.His4968Leu) c.14933A>T (p.His4978Leu) c.14849A>T (p.His4950Leu)
19	g.38586159C>A	CA405693163	RYR1	c.1873C>A c.3270C>A c.3242C>A n.330C>A c.14937C>A (p.His4979Gln) c.14922C>A (p.His4974Gln) c.14919C>A (p.His4973Gln) c.14904C>A (p.His4968Gln) c.14934C>A (p.His4978Gln) c.14850C>A (p.His4950Gln)
19	g.38586159C>G	CA405693162	RYR1	c.1873C>G c.3270C>G c.3242C>G n.330C>G c.14937C>G (p.His4979Gln) c.14922C>G (p.His4974Gln) c.14919C>G (p.His4973Gln) c.14904C>G (p.His4968Gln) c.14934C>G (p.His4978Gln) c.14850C>G (p.His4950Gln)
19	g.38586159C>T	CA507246653	RYR1	c.1873C>T c.3270C>T c.3242C>T n.330C>T c.14937C>T (p.His4979=) c.14922C>T (p.His4974=) c.14919C>T (p.His4973=) c.14904C>T (p.His4968=) c.14934C>T (p.His4978=) c.14850C>T (p.His4950=)	gnomAD v4
19	g.38586160A>C	CA405693164	RYR1	c.1874A>C c.3271A>C c.3243A>C n.331A>C c.14938A>C (p.Thr4980Pro) c.14923A>C (p.Thr4975Pro) c.14920A>C (p.Thr4974Pro) c.14905A>C (p.Thr4969Pro) c.14935A>C (p.Thr4979Pro) c.14851A>C (p.Thr4951Pro)
19	g.38586160A>G	CA405693165	RYR1	c.1874A>G c.3271A>G c.3243A>G n.331A>G c.14938A>G (p.Thr4980Ala) c.14923A>G (p.Thr4975Ala) c.14920A>G (p.Thr4974Ala) c.14905A>G (p.Thr4969Ala) c.14935A>G (p.Thr4979Ala) c.14851A>G (p.Thr4951Ala)
19	g.38586160A>T	CA405693168	RYR1	c.1874A>T c.3271A>T c.3243A>T n.331A>T c.14938A>T (p.Thr4980Ser) c.14923A>T (p.Thr4975Ser) c.14920A>T (p.Thr4974Ser) c.14905A>T (p.Thr4969Ser) c.14935A>T (p.Thr4979Ser) c.14851A>T (p.Thr4951Ser)
19	g.38586161C>A	CA405693169	RYR1	c.1875C>A c.3272C>A c.3244C>A n.332C>A c.14939C>A (p.Thr4980Lys) c.14924C>A (p.Thr4975Lys) c.14921C>A (p.Thr4974Lys) c.14906C>A (p.Thr4969Lys) c.14936C>A (p.Thr4979Lys) c.14852C>A (p.Thr4951Lys)
19	g.38586161C=	CA2335095581	RYR1	c.1875C= c.3272C= c.3244C= n.332C= c.14939C= (p.Thr4980=) c.14924C= (p.Thr4975=) c.14921C= (p.Thr4974=) c.14906C= (p.Thr4969=) c.14936C= (p.Thr4979=) c.14852C= (p.Thr4951=)
19	g.38586161C>G	CA405693170	RYR1	c.1875C>G c.3272C>G c.3244C>G n.332C>G c.14939C>G (p.Thr4980Arg) c.14924C>G (p.Thr4975Arg) c.14921C>G (p.Thr4974Arg) c.14906C>G (p.Thr4969Arg) c.14936C>G (p.Thr4979Arg) c.14852C>G (p.Thr4951Arg)	dbSNP gnomAD v3 gnomAD v4
19	g.38586161C>T	CA024280	RYR1	c.1875C>T c.3272C>T c.3244C>T n.332C>T c.14939C>T (p.Thr4980Met) c.14924C>T (p.Thr4975Met) c.14921C>T (p.Thr4974Met) c.14906C>T (p.Thr4969Met) c.14936C>T (p.Thr4979Met) c.14852C>T (p.Thr4951Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19	g.38586162G>A	CA061842	RYR1	c.1876G>A c.3273G>A c.3245G>A n.333G>A c.14940G>A (p.Thr4980=) c.14925G>A (p.Thr4975=) c.14922G>A (p.Thr4974=) c.14907G>A (p.Thr4969=) c.14937G>A (p.Thr4979=) c.14853G>A (p.Thr4951=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38586162G>C	CA507246720	RYR1	c.1876G>C c.3273G>C c.3245G>C n.333G>C c.14940G>C (p.Thr4980=) c.14925G>C (p.Thr4975=) c.14922G>C (p.Thr4974=) c.14907G>C (p.Thr4969=) c.14937G>C (p.Thr4979=) c.14853G>C (p.Thr4951=)	ClinVar dbSNP
19	g.38586162G=	CA2335095582	RYR1	c.1876G= c.3273G= c.3245G= n.333G= c.14940G= (p.Thr4980=) c.14925G= (p.Thr4975=) c.14922G= (p.Thr4974=) c.14907G= (p.Thr4969=) c.14937G= (p.Thr4979=) c.14853G= (p.Thr4951=)
19	g.38586162G>T	CA507246719	RYR1	c.1876G>T c.3273G>T c.3245G>T n.333G>T c.14940G>T (p.Thr4980=) c.14925G>T (p.Thr4975=) c.14922G>T (p.Thr4974=) c.14907G>T (p.Thr4969=) c.14937G>T (p.Thr4979=) c.14853G>T (p.Thr4951=)
19	g.38586163C>A	CA405693172	RYR1	c.1877C>A c.3274C>A c.3246C>A n.334C>A c.14941C>A (p.Leu4981Met) c.14926C>A (p.Leu4976Met) c.14923C>A (p.Leu4975Met) c.14908C>A (p.Leu4970Met) c.14938C>A (p.Leu4980Met) c.14854C>A (p.Leu4952Met)
19	g.38586163C>G	CA405693174	RYR1	c.1877C>G c.3274C>G c.3246C>G n.334C>G c.14941C>G (p.Leu4981Val) c.14926C>G (p.Leu4976Val) c.14923C>G (p.Leu4975Val) c.14908C>G (p.Leu4970Val) c.14938C>G (p.Leu4980Val) c.14854C>G (p.Leu4952Val)
19	g.38586163C>T	CA507246722	RYR1	c.1877C>T c.3274C>T c.3246C>T n.334C>T c.14941C>T (p.Leu4981=) c.14926C>T (p.Leu4976=) c.14923C>T (p.Leu4975=) c.14908C>T (p.Leu4970=) c.14938C>T (p.Leu4980=) c.14854C>T (p.Leu4952=)
19	g.38586164T>A	CA405693176	RYR1	c.1878T>A c.3275T>A c.3247T>A n.335T>A c.14942T>A (p.Leu4981Gln) c.14927T>A (p.Leu4976Gln) c.14924T>A (p.Leu4975Gln) c.14909T>A (p.Leu4970Gln) c.14939T>A (p.Leu4980Gln) c.14855T>A (p.Leu4952Gln)
19	g.38586164T>C	CA061847	RYR1	c.1878T>C c.3275T>C c.3247T>C n.335T>C c.14942T>C (p.Leu4981Pro) c.14927T>C (p.Leu4976Pro) c.14924T>C (p.Leu4975Pro) c.14909T>C (p.Leu4970Pro) c.14939T>C (p.Leu4980Pro) c.14855T>C (p.Leu4952Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38586164T>G	CA405693183	RYR1	c.1878T>G c.3275T>G c.3247T>G n.335T>G c.14942T>G (p.Leu4981Arg) c.14927T>G (p.Leu4976Arg) c.14924T>G (p.Leu4975Arg) c.14909T>G (p.Leu4970Arg) c.14939T>G (p.Leu4980Arg) c.14855T>G (p.Leu4952Arg)
19	g.38586164T=	CA2335095584	RYR1	c.1878T= c.3275T= c.3247T= n.335T= c.14942T= (p.Leu4981=) c.14927T= (p.Leu4976=) c.14924T= (p.Leu4975=) c.14909T= (p.Leu4970=) c.14939T= (p.Leu4980=) c.14855T= (p.Leu4952=)
19	g.38586164_38586167delinsTGGA	CA2335095583	RYR1	c.1878_1881delinsTGGA c.3275_3278delinsTGGA c.3247_3250delinsTGGA n.335_338delinsTGGA c.14942_14945delinsTGGA (p.Leu4981=) c.14927_14930delinsTGGA (p.Leu4976=) c.14924_14927delinsTGGA (p.Leu4975=) c.14909_14912delinsTGGA (p.Leu4970=) c.14939_14942delinsTGGA (p.Leu4980=) c.14855_14858delinsTGGA (p.Leu4952=)
19	g.38586165G>A	CA081376	RYR1	c.1879G>A c.3276G>A c.3248G>A n.336G>A c.14943G>A (p.Leu4981=) c.14928G>A (p.Leu4976=) c.14925G>A (p.Leu4975=) c.14910G>A (p.Leu4970=) c.14940G>A (p.Leu4980=) c.14856G>A (p.Leu4952=)
19	g.38586165G>C	CA507246726	RYR1	c.1879G>C c.3276G>C c.3248G>C n.336G>C c.14943G>C (p.Leu4981=) c.14928G>C (p.Leu4976=) c.14925G>C (p.Leu4975=) c.14910G>C (p.Leu4970=) c.14940G>C (p.Leu4980=) c.14856G>C (p.Leu4952=)
19	g.38586165G>T	CA507246725	RYR1	c.1879G>T c.3276G>T c.3248G>T n.336G>T c.14943G>T (p.Leu4981=) c.14928G>T (p.Leu4976=) c.14925G>T (p.Leu4975=) c.14910G>T (p.Leu4970=) c.14940G>T (p.Leu4980=) c.14856G>T (p.Leu4952=)
19	g.38586169_38586171del	CA882056237	RYR1	c.1883_1885del c.3280_3282del c.3252_3254del n.340_342del c.14947_14949del (p.Glu4983del) c.14932_14934del (p.Glu4978del) c.14929_14931del (p.Glu4977del) c.14914_14916del (p.Glu4972del) c.14944_14946del (p.Glu4982del) c.14860_14862del (p.Glu4954del)	dbSNP
19	g.38586166G>A	CA405693193	RYR1	c.1880G>A c.3277G>A c.3249G>A n.337G>A c.14944G>A (p.Glu4982Lys) c.14929G>A (p.Glu4977Lys) c.14926G>A (p.Glu4976Lys) c.14911G>A (p.Glu4971Lys) c.14941G>A (p.Glu4981Lys) c.14857G>A (p.Glu4953Lys)
19	g.38586166G>C	CA405693189	RYR1	c.1880G>C c.3277G>C c.3249G>C n.337G>C c.14944G>C (p.Glu4982Gln) c.14929G>C (p.Glu4977Gln) c.14926G>C (p.Glu4976Gln) c.14911G>C (p.Glu4971Gln) c.14941G>C (p.Glu4981Gln) c.14857G>C (p.Glu4953Gln)
19	g.38586166G>T	CA405693186	RYR1	c.1880G>T c.3277G>T c.3249G>T n.337G>T c.14944G>T (p.Glu4982Ter) c.14929G>T (p.Glu4977Ter) c.14926G>T (p.Glu4976Ter) c.14911G>T (p.Glu4971Ter) c.14941G>T (p.Glu4981Ter) c.14857G>T (p.Glu4953Ter)
19	g.38586167A=	CA2335095585	RYR1	c.1881A= c.3278A= c.3250A= n.338A= c.14945A= (p.Glu4982=) c.14930A= (p.Glu4977=) c.14927A= (p.Glu4976=) c.14912A= (p.Glu4971=) c.14942A= (p.Glu4981=) c.14858A= (p.Glu4953=)
19	g.38586167A>C	CA405693205	RYR1	c.1881A>C c.3278A>C c.3250A>C n.338A>C c.14945A>C (p.Glu4982Ala) c.14930A>C (p.Glu4977Ala) c.14927A>C (p.Glu4976Ala) c.14912A>C (p.Glu4971Ala) c.14942A>C (p.Glu4981Ala) c.14858A>C (p.Glu4953Ala)
19	g.38586167A>G	CA405693208	RYR1	c.1881A>G c.3278A>G c.3250A>G n.338A>G c.14945A>G (p.Glu4982Gly) c.14930A>G (p.Glu4977Gly) c.14927A>G (p.Glu4976Gly) c.14912A>G (p.Glu4971Gly) c.14942A>G (p.Glu4981Gly) c.14858A>G (p.Glu4953Gly)	dbSNP gnomAD v4
19	g.38586167A>T	CA405693212	RYR1	c.1881A>T c.3278A>T c.3250A>T n.338A>T c.14945A>T (p.Glu4982Val) c.14930A>T (p.Glu4977Val) c.14927A>T (p.Glu4976Val) c.14912A>T (p.Glu4971Val) c.14942A>T (p.Glu4981Val) c.14858A>T (p.Glu4953Val)
19	g.38586168G>A	CA507246730	RYR1	c.1882G>A c.3279G>A c.3251G>A n.339G>A c.14946G>A (p.Glu4982=) c.14931G>A (p.Glu4977=) c.14928G>A (p.Glu4976=) c.14913G>A (p.Glu4971=) c.14943G>A (p.Glu4981=) c.14859G>A (p.Glu4953=)	gnomAD v4
19	g.38586168G>C	CA405693217	RYR1	c.1882G>C c.3279G>C c.3251G>C n.339G>C c.14946G>C (p.Glu4982Asp) c.14931G>C (p.Glu4977Asp) c.14928G>C (p.Glu4976Asp) c.14913G>C (p.Glu4971Asp) c.14943G>C (p.Glu4981Asp) c.14859G>C (p.Glu4953Asp)
19	g.38586168G>T	CA405693225	RYR1	c.1882G>T c.3279G>T c.3251G>T n.339G>T c.14946G>T (p.Glu4982Asp) c.14931G>T (p.Glu4977Asp) c.14928G>T (p.Glu4976Asp) c.14913G>T (p.Glu4971Asp) c.14943G>T (p.Glu4981Asp) c.14859G>T (p.Glu4953Asp)
19	g.38586169G>A	CA405693230	RYR1	c.1883G>A c.3280G>A c.3252G>A n.340G>A c.14947G>A (p.Glu4983Lys) c.14932G>A (p.Glu4978Lys) c.14929G>A (p.Glu4977Lys) c.14914G>A (p.Glu4972Lys) c.14944G>A (p.Glu4982Lys) c.14860G>A (p.Glu4954Lys)
19	g.38586169G>C	CA405693232	RYR1	c.1883G>C c.3280G>C c.3252G>C n.340G>C c.14947G>C (p.Glu4983Gln) c.14932G>C (p.Glu4978Gln) c.14929G>C (p.Glu4977Gln) c.14914G>C (p.Glu4972Gln) c.14944G>C (p.Glu4982Gln) c.14860G>C (p.Glu4954Gln)
19	g.38586169G>T	CA405693233	RYR1	c.1883G>T c.3280G>T c.3252G>T n.340G>T c.14947G>T (p.Glu4983Ter) c.14932G>T (p.Glu4978Ter) c.14929G>T (p.Glu4977Ter) c.14914G>T (p.Glu4972Ter) c.14944G>T (p.Glu4982Ter) c.14860G>T (p.Glu4954Ter)
19	g.38586170A>C	CA405693234	RYR1	c.1884A>C c.3281A>C c.3253A>C n.341A>C c.14948A>C (p.Glu4983Ala) c.14933A>C (p.Glu4978Ala) c.14930A>C (p.Glu4977Ala) c.14915A>C (p.Glu4972Ala) c.14945A>C (p.Glu4982Ala) c.14861A>C (p.Glu4954Ala)
19	g.38586170A>G	CA405693235	RYR1	c.1884A>G c.3281A>G c.3253A>G n.341A>G c.14948A>G (p.Glu4983Gly) c.14933A>G (p.Glu4978Gly) c.14930A>G (p.Glu4977Gly) c.14915A>G (p.Glu4972Gly) c.14945A>G (p.Glu4982Gly) c.14861A>G (p.Glu4954Gly)
19	g.38586170A>T	CA405693236	RYR1	c.1884A>T c.3281A>T c.3253A>T n.341A>T c.14948A>T (p.Glu4983Val) c.14933A>T (p.Glu4978Val) c.14930A>T (p.Glu4977Val) c.14915A>T (p.Glu4972Val) c.14945A>T (p.Glu4982Val) c.14861A>T (p.Glu4954Val)
19	g.38586171G>A	CA061852	RYR1	c.1885G>A c.3282G>A c.3254G>A n.342G>A c.14949G>A (p.Glu4983=) c.14934G>A (p.Glu4978=) c.14931G>A (p.Glu4977=) c.14916G>A (p.Glu4972=) c.14946G>A (p.Glu4982=) c.14862G>A (p.Glu4954=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38586171G>C	CA405693239	RYR1	c.1885G>C c.3282G>C c.3254G>C n.342G>C c.14949G>C (p.Glu4983Asp) c.14934G>C (p.Glu4978Asp) c.14931G>C (p.Glu4977Asp) c.14916G>C (p.Glu4972Asp) c.14946G>C (p.Glu4982Asp) c.14862G>C (p.Glu4954Asp)
19	g.38586171G=	CA2335095586	RYR1	c.1885G= c.3282G= c.3254G= n.342G= c.14949G= (p.Glu4983=) c.14934G= (p.Glu4978=) c.14931G= (p.Glu4977=) c.14916G= (p.Glu4972=) c.14946G= (p.Glu4982=) c.14862G= (p.Glu4954=)
19	g.38586171G>T	CA405693248	RYR1	c.1885G>T c.3282G>T c.3254G>T n.342G>T c.14949G>T (p.Glu4983Asp) c.14934G>T (p.Glu4978Asp) c.14931G>T (p.Glu4977Asp) c.14916G>T (p.Glu4972Asp) c.14946G>T (p.Glu4982Asp) c.14862G>T (p.Glu4954Asp)
19	g.38586172C>A	CA405693252	RYR1	c.1886C>A c.3283C>A c.3255C>A n.343C>A c.14950C>A (p.His4984Asn) c.14935C>A (p.His4979Asn) c.14932C>A (p.His4978Asn) c.14917C>A (p.His4973Asn) c.14947C>A (p.His4983Asn) c.14863C>A (p.His4955Asn)	dbSNP gnomAD v2 gnomAD v4
19	g.38586172C=	CA2335095587	RYR1	c.1886C= c.3283C= c.3255C= n.343C= c.14950C= (p.His4984=) c.14935C= (p.His4979=) c.14932C= (p.His4978=) c.14917C= (p.His4973=) c.14947C= (p.His4983=) c.14863C= (p.His4955=)
19	g.38586172C>G	CA405693253	RYR1	c.1886C>G c.3283C>G c.3255C>G n.343C>G c.14950C>G (p.His4984Asp) c.14935C>G (p.His4979Asp) c.14932C>G (p.His4978Asp) c.14917C>G (p.His4973Asp) c.14947C>G (p.His4983Asp) c.14863C>G (p.His4955Asp)
19	g.38586172C>T	CA405693250	RYR1	c.1886C>T c.3283C>T c.3255C>T n.343C>T c.14950C>T (p.His4984Tyr) c.14935C>T (p.His4979Tyr) c.14932C>T (p.His4978Tyr) c.14917C>T (p.His4973Tyr) c.14947C>T (p.His4983Tyr) c.14863C>T (p.His4955Tyr)
19	g.38586173A>C	CA405693254	RYR1	c.1887A>C c.3284A>C c.3256A>C n.344A>C c.14951A>C (p.His4984Pro) c.14936A>C (p.His4979Pro) c.14933A>C (p.His4978Pro) c.14918A>C (p.His4973Pro) c.14948A>C (p.His4983Pro) c.14864A>C (p.His4955Pro)
19	g.38586173A>G	CA405693256	RYR1	c.1887A>G c.3284A>G c.3256A>G n.344A>G c.14951A>G (p.His4984Arg) c.14936A>G (p.His4979Arg) c.14933A>G (p.His4978Arg) c.14918A>G (p.His4973Arg) c.14948A>G (p.His4983Arg) c.14864A>G (p.His4955Arg)
19	g.38586173A>T	CA405693258	RYR1	c.1887A>T c.3284A>T c.3256A>T n.344A>T c.14951A>T (p.His4984Leu) c.14936A>T (p.His4979Leu) c.14933A>T (p.His4978Leu) c.14918A>T (p.His4973Leu) c.14948A>T (p.His4983Leu) c.14864A>T (p.His4955Leu)
19	g.38586174C>A	CA405693262	RYR1	c.1888C>A c.3285C>A c.3257C>A n.345C>A c.14952C>A (p.His4984Gln) c.14937C>A (p.His4979Gln) c.14934C>A (p.His4978Gln) c.14919C>A (p.His4973Gln) c.14949C>A (p.His4983Gln) c.14865C>A (p.His4955Gln)
19	g.38586174C>G	CA405693272	RYR1	c.1888C>G c.3285C>G c.3257C>G n.345C>G c.14952C>G (p.His4984Gln) c.14937C>G (p.His4979Gln) c.14934C>G (p.His4978Gln) c.14919C>G (p.His4973Gln) c.14949C>G (p.His4983Gln) c.14865C>G (p.His4955Gln)
19	g.38586174C>T	CA507246736	RYR1	c.1888C>T c.3285C>T c.3257C>T n.345C>T c.14952C>T (p.His4984=) c.14937C>T (p.His4979=) c.14934C>T (p.His4978=) c.14919C>T (p.His4973=) c.14949C>T (p.His4983=) c.14865C>T (p.His4955=)
19	g.38586175A>C	CA405693275	RYR1	c.1889A>C c.3286A>C c.3258A>C n.346A>C c.14953A>C (p.Asn4985His) c.14938A>C (p.Asn4980His) c.14935A>C (p.Asn4979His) c.14920A>C (p.Asn4974His) c.14950A>C (p.Asn4984His) c.14866A>C (p.Asn4956His)
19	g.38586175A>G	CA405693277	RYR1	c.1889A>G c.3286A>G c.3258A>G n.346A>G c.14953A>G (p.Asn4985Asp) c.14938A>G (p.Asn4980Asp) c.14935A>G (p.Asn4979Asp) c.14920A>G (p.Asn4974Asp) c.14950A>G (p.Asn4984Asp) c.14866A>G (p.Asn4956Asp)
19	g.38586175A>T	CA405693280	RYR1	c.1889A>T c.3286A>T c.3258A>T n.346A>T c.14953A>T (p.Asn4985Tyr) c.14938A>T (p.Asn4980Tyr) c.14935A>T (p.Asn4979Tyr) c.14920A>T (p.Asn4974Tyr) c.14950A>T (p.Asn4984Tyr) c.14866A>T (p.Asn4956Tyr)
19	g.38586176A=	CA2335095588	RYR1	c.1890A= c.3287A= c.3259A= n.347A= c.14954A= (p.Asn4985=) c.14939A= (p.Asn4980=) c.14936A= (p.Asn4979=) c.14921A= (p.Asn4974=) c.14951A= (p.Asn4984=) c.14867A= (p.Asn4956=)
19	g.38586176A>C	CA061856	RYR1	c.1890A>C c.3287A>C c.3259A>C n.347A>C c.14954A>C (p.Asn4985Thr) c.14939A>C (p.Asn4980Thr) c.14936A>C (p.Asn4979Thr) c.14921A>C (p.Asn4974Thr) c.14951A>C (p.Asn4984Thr) c.14867A>C (p.Asn4956Thr)	dbSNP ExAC gnomAD v2
19	g.38586176A>G	CA405693295	RYR1	c.1890A>G c.3287A>G c.3259A>G n.347A>G c.14954A>G (p.Asn4985Ser) c.14939A>G (p.Asn4980Ser) c.14936A>G (p.Asn4979Ser) c.14921A>G (p.Asn4974Ser) c.14951A>G (p.Asn4984Ser) c.14867A>G (p.Asn4956Ser)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38586176A>T	CA405693301	RYR1	c.1890A>T c.3287A>T c.3259A>T n.347A>T c.14954A>T (p.Asn4985Ile) c.14939A>T (p.Asn4980Ile) c.14936A>T (p.Asn4979Ile) c.14921A>T (p.Asn4974Ile) c.14951A>T (p.Asn4984Ile) c.14867A>T (p.Asn4956Ile)	dbSNP gnomAD v2 gnomAD v4
19	g.38586177C>A	CA405693305	RYR1	c.1891C>A c.3288C>A c.3260C>A n.348C>A c.14955C>A (p.Asn4985Lys) c.14940C>A (p.Asn4980Lys) c.14937C>A (p.Asn4979Lys) c.14922C>A (p.Asn4974Lys) c.14952C>A (p.Asn4984Lys) c.14868C>A (p.Asn4956Lys)
19	g.38586177C>G	CA405693306	RYR1	c.1891C>G c.3288C>G c.3260C>G n.348C>G c.14955C>G (p.Asn4985Lys) c.14940C>G (p.Asn4980Lys) c.14937C>G (p.Asn4979Lys) c.14922C>G (p.Asn4974Lys) c.14952C>G (p.Asn4984Lys) c.14868C>G (p.Asn4956Lys)
19	g.38586177C>T	CA507246738	RYR1	c.1891C>T c.3288C>T c.3260C>T n.348C>T c.14955C>T (p.Asn4985=) c.14940C>T (p.Asn4980=) c.14937C>T (p.Asn4979=) c.14922C>T (p.Asn4974=) c.14952C>T (p.Asn4984=) c.14868C>T (p.Asn4956=)
19	g.38586178C>A	CA405693312	RYR1	c.1892C>A c.3289C>A c.3261C>A n.349C>A c.14956C>A (p.Leu4986Met) c.14941C>A (p.Leu4981Met) c.14938C>A (p.Leu4980Met) c.14923C>A (p.Leu4975Met) c.14953C>A (p.Leu4985Met) c.14869C>A (p.Leu4957Met)
19	g.38586178C>G	CA405693308	RYR1	c.1892C>G c.3289C>G c.3261C>G n.349C>G c.14956C>G (p.Leu4986Val) c.14941C>G (p.Leu4981Val) c.14938C>G (p.Leu4980Val) c.14923C>G (p.Leu4975Val) c.14953C>G (p.Leu4985Val) c.14869C>G (p.Leu4957Val)
19	g.38586178C>T	CA507246739	RYR1	c.1892C>T c.3289C>T c.3261C>T n.349C>T c.14956C>T (p.Leu4986=) c.14941C>T (p.Leu4981=) c.14938C>T (p.Leu4980=) c.14923C>T (p.Leu4975=) c.14953C>T (p.Leu4985=) c.14869C>T (p.Leu4957=)	ClinVar
19	g.38586178_38586190delinsCTGGCCAATTACA	CA2335095589	RYR1	c.1892_1904delinsCTGGCCAATTACA c.3289_3301delinsCTGGCCAATTACA c.3261_3273delinsCTGGCCAATTACA n.349_361delinsCTGGCCAATTACA c.14956_14968delinsCTGGCCAATTACA (p.Leu4986=) c.14941_14953delinsCTGGCCAATTACA (p.Leu4981=) c.14938_14950delinsCTGGCCAATTACA (p.Leu4980=) c.14923_14935delinsCTGGCCAATTACA (p.Leu4975=) c.14953_14965delinsCTGGCCAATTACA (p.Leu4985=) c.14869_14881delinsCTGGCCAATTACA (p.Leu4957=)
19	g.38586179T>A	CA405693315	RYR1	c.1893T>A c.3290T>A c.3262T>A n.350T>A c.14957T>A (p.Leu4986Gln) c.14942T>A (p.Leu4981Gln) c.14939T>A (p.Leu4980Gln) c.14924T>A (p.Leu4975Gln) c.14954T>A (p.Leu4985Gln) c.14870T>A (p.Leu4957Gln)
19	g.38586179T>C	CA405693319	RYR1	c.1893T>C c.3290T>C c.3262T>C n.350T>C c.14957T>C (p.Leu4986Pro) c.14942T>C (p.Leu4981Pro) c.14939T>C (p.Leu4980Pro) c.14924T>C (p.Leu4975Pro) c.14954T>C (p.Leu4985Pro) c.14870T>C (p.Leu4957Pro)
19	g.38586179T>G	CA405693320	RYR1	c.1893T>G c.3290T>G c.3262T>G n.350T>G c.14957T>G (p.Leu4986Arg) c.14942T>G (p.Leu4981Arg) c.14939T>G (p.Leu4980Arg) c.14924T>G (p.Leu4975Arg) c.14954T>G (p.Leu4985Arg) c.14870T>G (p.Leu4957Arg)
19	g.38586181_38586192del	CA632878240	RYR1	c.1895_1905+1del c.3292_3302+1del c.3264_3274+1del n.352_362+1del c.14959_14969+1del c.14944_14954+1del c.14941_14951+1del c.14926_14936+1del c.14956_14966+1del c.14872_14882+1del	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38586180G>A	CA507246741	RYR1	c.1894G>A c.3291G>A c.3263G>A n.351G>A c.14958G>A (p.Leu4986=) c.14943G>A (p.Leu4981=) c.14940G>A (p.Leu4980=) c.14925G>A (p.Leu4975=) c.14955G>A (p.Leu4985=) c.14871G>A (p.Leu4957=)
19	g.38586180G>C	CA507246742	RYR1	c.1894G>C c.3291G>C c.3263G>C n.351G>C c.14958G>C (p.Leu4986=) c.14943G>C (p.Leu4981=) c.14940G>C (p.Leu4980=) c.14925G>C (p.Leu4975=) c.14955G>C (p.Leu4985=) c.14871G>C (p.Leu4957=)
19	g.38586180G>T	CA507246743	RYR1	c.1894G>T c.3291G>T c.3263G>T n.351G>T c.14958G>T (p.Leu4986=) c.14943G>T (p.Leu4981=) c.14940G>T (p.Leu4980=) c.14925G>T (p.Leu4975=) c.14955G>T (p.Leu4985=) c.14871G>T (p.Leu4957=)
19	g.38586181G>A	CA405693324	RYR1	c.1895G>A c.3292G>A c.3264G>A n.352G>A c.14959G>A (p.Ala4987Thr) c.14944G>A (p.Ala4982Thr) c.14941G>A (p.Ala4981Thr) c.14926G>A (p.Ala4976Thr) c.14956G>A (p.Ala4986Thr) c.14872G>A (p.Ala4958Thr)
19	g.38586181G>C	CA405693327	RYR1	c.1895G>C c.3292G>C c.3264G>C n.352G>C c.14959G>C (p.Ala4987Pro) c.14944G>C (p.Ala4982Pro) c.14941G>C (p.Ala4981Pro) c.14926G>C (p.Ala4976Pro) c.14956G>C (p.Ala4986Pro) c.14872G>C (p.Ala4958Pro)
19	g.38586181G>T	CA405693329	RYR1	c.1895G>T c.3292G>T c.3264G>T n.352G>T c.14959G>T (p.Ala4987Ser) c.14944G>T (p.Ala4982Ser) c.14941G>T (p.Ala4981Ser) c.14926G>T (p.Ala4976Ser) c.14956G>T (p.Ala4986Ser) c.14872G>T (p.Ala4958Ser)
19	g.38586182C>A	CA405693331	RYR1	c.1896C>A c.3293C>A c.3265C>A n.353C>A c.14960C>A (p.Ala4987Asp) c.14945C>A (p.Ala4982Asp) c.14942C>A (p.Ala4981Asp) c.14927C>A (p.Ala4976Asp) c.14957C>A (p.Ala4986Asp) c.14873C>A (p.Ala4958Asp)
19	g.38586182C>G	CA405693334	RYR1	c.1896C>G c.3293C>G c.3265C>G n.353C>G c.14960C>G (p.Ala4987Gly) c.14945C>G (p.Ala4982Gly) c.14942C>G (p.Ala4981Gly) c.14927C>G (p.Ala4976Gly) c.14957C>G (p.Ala4986Gly) c.14873C>G (p.Ala4958Gly)
19	g.38586182C>T	CA405693337	RYR1	c.1896C>T c.3293C>T c.3265C>T n.353C>T c.14960C>T (p.Ala4987Val) c.14945C>T (p.Ala4982Val) c.14942C>T (p.Ala4981Val) c.14927C>T (p.Ala4976Val) c.14957C>T (p.Ala4986Val) c.14873C>T (p.Ala4958Val)
19	g.38586183C>A	CA507246747	RYR1	c.1897C>A c.3294C>A c.3266C>A n.354C>A c.14961C>A (p.Ala4987=) c.14946C>A (p.Ala4982=) c.14943C>A (p.Ala4981=) c.14928C>A (p.Ala4976=) c.14958C>A (p.Ala4986=) c.14874C>A (p.Ala4958=)
19	g.38586183C=	CA2335095590	RYR1	c.1897C= c.3294C= c.3266C= n.354C= c.14961C= (p.Ala4987=) c.14946C= (p.Ala4982=) c.14943C= (p.Ala4981=) c.14928C= (p.Ala4976=) c.14958C= (p.Ala4986=) c.14874C= (p.Ala4958=)
19	g.38586183C>G	CA507246748	RYR1	c.1897C>G c.3294C>G c.3266C>G n.354C>G c.14961C>G (p.Ala4987=) c.14946C>G (p.Ala4982=) c.14943C>G (p.Ala4981=) c.14928C>G (p.Ala4976=) c.14958C>G (p.Ala4986=) c.14874C>G (p.Ala4958=)	dbSNP gnomAD v2 gnomAD v4
19	g.38586183C>T	CA507246749	RYR1	c.1897C>T c.3294C>T c.3266C>T n.354C>T c.14961C>T (p.Ala4987=) c.14946C>T (p.Ala4982=) c.14943C>T (p.Ala4981=) c.14928C>T (p.Ala4976=) c.14958C>T (p.Ala4986=) c.14874C>T (p.Ala4958=)	ClinVar gnomAD v4
19	g.38586184A>C	CA405693349	RYR1	c.1898A>C c.3295A>C c.3267A>C n.355A>C c.14962A>C (p.Asn4988His) c.14947A>C (p.Asn4983His) c.14944A>C (p.Asn4982His) c.14929A>C (p.Asn4977His) c.14959A>C (p.Asn4987His) c.14875A>C (p.Asn4959His)
19	g.38586184A>G	CA405693351	RYR1	c.1898A>G c.3295A>G c.3267A>G n.355A>G c.14962A>G (p.Asn4988Asp) c.14947A>G (p.Asn4983Asp) c.14944A>G (p.Asn4982Asp) c.14929A>G (p.Asn4977Asp) c.14959A>G (p.Asn4987Asp) c.14875A>G (p.Asn4959Asp)	gnomAD v4
19	g.38586184A>T	CA405693355	RYR1	c.1898A>T c.3295A>T c.3267A>T n.355A>T c.14962A>T (p.Asn4988Tyr) c.14947A>T (p.Asn4983Tyr) c.14944A>T (p.Asn4982Tyr) c.14929A>T (p.Asn4977Tyr) c.14959A>T (p.Asn4987Tyr) c.14875A>T (p.Asn4959Tyr)
19	g.38586185A>C	CA405693366	RYR1	c.1899A>C c.3296A>C c.3268A>C n.356A>C c.14963A>C (p.Asn4988Thr) c.14948A>C (p.Asn4983Thr) c.14945A>C (p.Asn4982Thr) c.14930A>C (p.Asn4977Thr) c.14960A>C (p.Asn4987Thr) c.14876A>C (p.Asn4959Thr)
19	g.38586185A>G	CA405693364	RYR1	c.1899A>G c.3296A>G c.3268A>G n.356A>G c.14963A>G (p.Asn4988Ser) c.14948A>G (p.Asn4983Ser) c.14945A>G (p.Asn4982Ser) c.14930A>G (p.Asn4977Ser) c.14960A>G (p.Asn4987Ser) c.14876A>G (p.Asn4959Ser)	ClinVar dbSNP
19	g.38586185A>T	CA405693362	RYR1	c.1899A>T c.3296A>T c.3268A>T n.356A>T c.14963A>T (p.Asn4988Ile) c.14948A>T (p.Asn4983Ile) c.14945A>T (p.Asn4982Ile) c.14930A>T (p.Asn4977Ile) c.14960A>T (p.Asn4987Ile) c.14876A>T (p.Asn4959Ile)
19	g.38586186T>A	CA061859	RYR1	c.1900T>A c.3297T>A c.3269T>A n.357T>A c.14964T>A (p.Asn4988Lys) c.14949T>A (p.Asn4983Lys) c.14946T>A (p.Asn4982Lys) c.14931T>A (p.Asn4977Lys) c.14961T>A (p.Asn4987Lys) c.14877T>A (p.Asn4959Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.38586186T>C	CA507246750	RYR1	c.1900T>C c.3297T>C c.3269T>C n.357T>C c.14964T>C (p.Asn4988=) c.14949T>C (p.Asn4983=) c.14946T>C (p.Asn4982=) c.14931T>C (p.Asn4977=) c.14961T>C (p.Asn4987=) c.14877T>C (p.Asn4959=)
19	g.38586186T>G	CA405693376	RYR1	c.1900T>G c.3297T>G c.3269T>G n.357T>G c.14964T>G (p.Asn4988Lys) c.14949T>G (p.Asn4983Lys) c.14946T>G (p.Asn4982Lys) c.14931T>G (p.Asn4977Lys) c.14961T>G (p.Asn4987Lys) c.14877T>G (p.Asn4959Lys)
19	g.38586186T=	CA2335095591	RYR1	c.1900T= c.3297T= c.3269T= n.357T= c.14964T= (p.Asn4988=) c.14949T= (p.Asn4983=) c.14946T= (p.Asn4982=) c.14931T= (p.Asn4977=) c.14961T= (p.Asn4987=) c.14877T= (p.Asn4959=)
19	g.38586186_38586187del	CA2814346624	RYR1	c.1900_1901del c.3297_3298del c.3269_3270del n.357_358del c.14964_14965del (p.Asn4988LysfsTer13) c.14949_14950del (p.Asn4983LysfsTer13) c.14946_14947del (p.Asn4982LysfsTer13) c.14931_14932del (p.Asn4977LysfsTer13) c.14961_14962del (p.Asn4987LysfsTer13) c.14877_14878del (p.Asn4959LysfsTer13)
19	g.38586187T>A	CA405693380	RYR1	c.1901T>A c.3298T>A c.3270T>A n.358T>A c.14965T>A (p.Tyr4989Asn) c.14950T>A (p.Tyr4984Asn) c.14947T>A (p.Tyr4983Asn) c.14932T>A (p.Tyr4978Asn) c.14962T>A (p.Tyr4988Asn) c.14878T>A (p.Tyr4960Asn)
19	g.38586187T>C	CA405693398	RYR1	c.1901T>C c.3298T>C c.3270T>C n.358T>C c.14965T>C (p.Tyr4989His) c.14950T>C (p.Tyr4984His) c.14947T>C (p.Tyr4983His) c.14932T>C (p.Tyr4978His) c.14962T>C (p.Tyr4988His) c.14878T>C (p.Tyr4960His)
19	g.38586187T>G	CA405693403	RYR1	c.1901T>G c.3298T>G c.3270T>G n.358T>G c.14965T>G (p.Tyr4989Asp) c.14950T>G (p.Tyr4984Asp) c.14947T>G (p.Tyr4983Asp) c.14932T>G (p.Tyr4978Asp) c.14962T>G (p.Tyr4988Asp) c.14878T>G (p.Tyr4960Asp)
19	g.38586188A>C	CA405693421	RYR1	c.1902A>C c.3299A>C c.3271A>C n.359A>C c.14966A>C (p.Tyr4989Ser) c.14951A>C (p.Tyr4984Ser) c.14948A>C (p.Tyr4983Ser) c.14933A>C (p.Tyr4978Ser) c.14963A>C (p.Tyr4988Ser) c.14879A>C (p.Tyr4960Ser)
19	g.38586188A>G	CA405693428	RYR1	c.1902A>G c.3299A>G c.3271A>G n.359A>G c.14966A>G (p.Tyr4989Cys) c.14951A>G (p.Tyr4984Cys) c.14948A>G (p.Tyr4983Cys) c.14933A>G (p.Tyr4978Cys) c.14963A>G (p.Tyr4988Cys) c.14879A>G (p.Tyr4960Cys)
19	g.38586188A>T	CA405693431	RYR1	c.1902A>T c.3299A>T c.3271A>T n.359A>T c.14966A>T (p.Tyr4989Phe) c.14951A>T (p.Tyr4984Phe) c.14948A>T (p.Tyr4983Phe) c.14933A>T (p.Tyr4978Phe) c.14963A>T (p.Tyr4988Phe) c.14879A>T (p.Tyr4960Phe)
19	g.38586189C>A	CA405693435	RYR1	c.1903C>A c.3300C>A c.3272C>A n.360C>A c.14967C>A (p.Tyr4989Ter) c.14952C>A (p.Tyr4984Ter) c.14949C>A (p.Tyr4983Ter) c.14934C>A (p.Tyr4978Ter) c.14964C>A (p.Tyr4988Ter) c.14880C>A (p.Tyr4960Ter)
19	g.38586189C>G	CA405693434	RYR1	c.1903C>G c.3300C>G c.3272C>G n.360C>G c.14967C>G (p.Tyr4989Ter) c.14952C>G (p.Tyr4984Ter) c.14949C>G (p.Tyr4983Ter) c.14934C>G (p.Tyr4978Ter) c.14964C>G (p.Tyr4988Ter) c.14880C>G (p.Tyr4960Ter)
19	g.38586189C>T	CA507246754	RYR1	c.1903C>T c.3300C>T c.3272C>T n.360C>T c.14967C>T (p.Tyr4989=) c.14952C>T (p.Tyr4984=) c.14949C>T (p.Tyr4983=) c.14934C>T (p.Tyr4978=) c.14964C>T (p.Tyr4988=) c.14880C>T (p.Tyr4960=)	gnomAD v4
19	g.38586190A>C	CA405693437	RYR1	c.1904A>C c.3301A>C c.3273A>C n.361A>C c.14968A>C (p.Met4990Leu) c.14953A>C (p.Met4985Leu) c.14950A>C (p.Met4984Leu) c.14935A>C (p.Met4979Leu) c.14965A>C (p.Met4989Leu) c.14881A>C (p.Met4961Leu)
19	g.38586190A>G	CA405693438	RYR1	c.1904A>G c.3301A>G c.3273A>G n.361A>G c.14968A>G (p.Met4990Val) c.14953A>G (p.Met4985Val) c.14950A>G (p.Met4984Val) c.14935A>G (p.Met4979Val) c.14965A>G (p.Met4989Val) c.14881A>G (p.Met4961Val)	ClinVar dbSNP
19	g.38586190A>T	CA405693446	RYR1	c.1904A>T c.3301A>T c.3273A>T n.361A>T c.14968A>T (p.Met4990Leu) c.14953A>T (p.Met4985Leu) c.14950A>T (p.Met4984Leu) c.14935A>T (p.Met4979Leu) c.14965A>T (p.Met4989Leu) c.14881A>T (p.Met4961Leu)

Number of alleles fetched