Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38580379A>CCA405687580RYR1c.1457A>C
c.2854A>C
c.2826A>C
c.14521A>C (p.Thr4841Pro)
c.14506A>C (p.Thr4836Pro)
c.14503A>C (p.Thr4835Pro)
c.14488A>C (p.Thr4830Pro)
c.14518A>C (p.Thr4840Pro)
c.14434A>C (p.Thr4812Pro)
19g.38580379A>GCA405687581RYR1c.1457A>G
c.2854A>G
c.2826A>G
c.14521A>G (p.Thr4841Ala)
c.14506A>G (p.Thr4836Ala)
c.14503A>G (p.Thr4835Ala)
c.14488A>G (p.Thr4830Ala)
c.14518A>G (p.Thr4840Ala)
c.14434A>G (p.Thr4812Ala)
19g.38580379A>TCA405687583RYR1c.1457A>T
c.2854A>T
c.2826A>T
c.14521A>T (p.Thr4841Ser)
c.14506A>T (p.Thr4836Ser)
c.14503A>T (p.Thr4835Ser)
c.14488A>T (p.Thr4830Ser)
c.14518A>T (p.Thr4840Ser)
c.14434A>T (p.Thr4812Ser)
19g.38580379_38580381dupCA2335092446RYR1c.1457_1459dup
c.2854_2856dup
c.2826_2828dup
c.14521_14523dup (p.Thr4841_Val4842insThr)
c.14506_14508dup (p.Thr4836_Val4837insThr)
c.14503_14505dup (p.Thr4835_Val4836insThr)
c.14488_14490dup (p.Thr4830_Val4831insThr)
c.14518_14520dup (p.Thr4840_Val4841insThr)
c.14434_14436dup (p.Thr4812_Val4813insThr)
 dbSNP
19g.38580380C>ACA405687585RYR1c.1458C>A
c.2855C>A
c.2827C>A
c.14522C>A (p.Thr4841Asn)
c.14507C>A (p.Thr4836Asn)
c.14504C>A (p.Thr4835Asn)
c.14489C>A (p.Thr4830Asn)
c.14519C>A (p.Thr4840Asn)
c.14435C>A (p.Thr4812Asn)
19g.38580380C>GCA405687586RYR1c.1458C>G
c.2855C>G
c.2827C>G
c.14522C>G (p.Thr4841Ser)
c.14507C>G (p.Thr4836Ser)
c.14504C>G (p.Thr4835Ser)
c.14489C>G (p.Thr4830Ser)
c.14519C>G (p.Thr4840Ser)
c.14435C>G (p.Thr4812Ser)
19g.38580380C>TCA405687589RYR1c.1458C>T
c.2855C>T
c.2827C>T
c.14522C>T (p.Thr4841Ile)
c.14507C>T (p.Thr4836Ile)
c.14504C>T (p.Thr4835Ile)
c.14489C>T (p.Thr4830Ile)
c.14519C>T (p.Thr4840Ile)
c.14435C>T (p.Thr4812Ile)
19g.38580381C>ACA507356023RYR1c.1459C>A
c.2856C>A
c.2828C>A
c.14523C>A (p.Thr4841=)
c.14508C>A (p.Thr4836=)
c.14505C>A (p.Thr4835=)
c.14490C>A (p.Thr4830=)
c.14520C>A (p.Thr4840=)
c.14436C>A (p.Thr4812=)
19g.38580381C=CA2335092447RYR1c.1459C=
c.2856C=
c.2828C=
c.14523C= (p.Thr4841=)
c.14508C= (p.Thr4836=)
c.14505C= (p.Thr4835=)
c.14490C= (p.Thr4830=)
c.14520C= (p.Thr4840=)
c.14436C= (p.Thr4812=)
19g.38580381C>GCA507356025RYR1c.1459C>G
c.2856C>G
c.2828C>G
c.14523C>G (p.Thr4841=)
c.14508C>G (p.Thr4836=)
c.14505C>G (p.Thr4835=)
c.14490C>G (p.Thr4830=)
c.14520C>G (p.Thr4840=)
c.14436C>G (p.Thr4812=)
19g.38580381C>TCA061377RYR1c.1459C>T
c.2856C>T
c.2828C>T
c.14523C>T (p.Thr4841=)
c.14508C>T (p.Thr4836=)
c.14505C>T (p.Thr4835=)
c.14490C>T (p.Thr4830=)
c.14520C>T (p.Thr4840=)
c.14436C>T (p.Thr4812=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38580382G>ACA024165RYR1c.1460G>A
c.2857G>A
c.2829G>A
c.14524G>A (p.Val4842Met)
c.14509G>A (p.Val4837Met)
c.14506G>A (p.Val4836Met)
c.14491G>A (p.Val4831Met)
c.14521G>A (p.Val4841Met)
c.14437G>A (p.Val4813Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38580382G>CCA081238RYR1c.1460G>C
c.2857G>C
c.2829G>C
c.14524G>C (p.Val4842Leu)
c.14509G>C (p.Val4837Leu)
c.14506G>C (p.Val4836Leu)
c.14491G>C (p.Val4831Leu)
c.14521G>C (p.Val4841Leu)
c.14437G>C (p.Val4813Leu)
 gnomAD v4
19g.38580382G=CA2335092448RYR1c.1460G=
c.2857G=
c.2829G=
c.14524G= (p.Val4842=)
c.14509G= (p.Val4837=)
c.14506G= (p.Val4836=)
c.14491G= (p.Val4831=)
c.14521G= (p.Val4841=)
c.14437G= (p.Val4813=)
19g.38580382G>TCA405687593RYR1c.1460G>T
c.2857G>T
c.2829G>T
c.14524G>T (p.Val4842Leu)
c.14509G>T (p.Val4837Leu)
c.14506G>T (p.Val4836Leu)
c.14491G>T (p.Val4831Leu)
c.14521G>T (p.Val4841Leu)
c.14437G>T (p.Val4813Leu)
 gnomAD v4
19g.38580383T>ACA405687594RYR1c.1461T>A
c.2858T>A
c.2830T>A
c.14525T>A (p.Val4842Glu)
c.14510T>A (p.Val4837Glu)
c.14507T>A (p.Val4836Glu)
c.14492T>A (p.Val4831Glu)
c.14522T>A (p.Val4841Glu)
c.14438T>A (p.Val4813Glu)
19g.38580383T>CCA405687595RYR1c.1461T>C
c.2858T>C
c.2830T>C
c.14525T>C (p.Val4842Ala)
c.14510T>C (p.Val4837Ala)
c.14507T>C (p.Val4836Ala)
c.14492T>C (p.Val4831Ala)
c.14522T>C (p.Val4841Ala)
c.14438T>C (p.Val4813Ala)
 dbSNP gnomAD v4
19g.38580383T>GCA405687597RYR1c.1461T>G
c.2858T>G
c.2830T>G
c.14525T>G (p.Val4842Gly)
c.14510T>G (p.Val4837Gly)
c.14507T>G (p.Val4836Gly)
c.14492T>G (p.Val4831Gly)
c.14522T>G (p.Val4841Gly)
c.14438T>G (p.Val4813Gly)
19g.38580383T=CA2335092449RYR1c.1461T=
c.2858T=
c.2830T=
c.14525T= (p.Val4842=)
c.14510T= (p.Val4837=)
c.14507T= (p.Val4836=)
c.14492T= (p.Val4831=)
c.14522T= (p.Val4841=)
c.14438T= (p.Val4813=)
19g.38580383dupCA2814346365RYR1c.1461dup
c.2858dup
c.2830dup
c.14525dup (p.Leu4844ProfsTer27)
c.14510dup (p.Leu4839ProfsTer27)
c.14507dup (p.Leu4838ProfsTer27)
c.14492dup (p.Leu4833ProfsTer27)
c.14522dup (p.Leu4843ProfsTer27)
c.14438dup (p.Leu4815ProfsTer27)
19g.38580386_38580394delCA2573156337RYR1c.1464_1472del
c.2861_2869del
c.2833_2841del
c.14528_14536del (p.Gly4843_Leu4845del)
c.14513_14521del (p.Gly4838_Leu4840del)
c.14510_14518del (p.Gly4837_Leu4839del)
c.14495_14503del (p.Gly4832_Leu4834del)
c.14525_14533del (p.Gly4842_Leu4844del)
c.14441_14449del (p.Gly4814_Leu4816del)
 ClinVar dbSNP
19g.38580384G>ACA507356032RYR1c.1462G>A
c.2859G>A
c.2831G>A
c.14526G>A (p.Val4842=)
c.14511G>A (p.Val4837=)
c.14508G>A (p.Val4836=)
c.14493G>A (p.Val4831=)
c.14523G>A (p.Val4841=)
c.14439G>A (p.Val4813=)
 ClinVar gnomAD v4
19g.38580384G>CCA507356031RYR1c.1462G>C
c.2859G>C
c.2831G>C
c.14526G>C (p.Val4842=)
c.14511G>C (p.Val4837=)
c.14508G>C (p.Val4836=)
c.14493G>C (p.Val4831=)
c.14523G>C (p.Val4841=)
c.14439G>C (p.Val4813=)
19g.38580384G=CA2335092450RYR1c.1462G=
c.2859G=
c.2831G=
c.14526G= (p.Val4842=)
c.14511G= (p.Val4837=)
c.14508G= (p.Val4836=)
c.14493G= (p.Val4831=)
c.14523G= (p.Val4841=)
c.14439G= (p.Val4813=)
19g.38580384G>TCA507356029RYR1c.1462G>T
c.2859G>T
c.2831G>T
c.14526G>T (p.Val4842=)
c.14511G>T (p.Val4837=)
c.14508G>T (p.Val4836=)
c.14493G>T (p.Val4831=)
c.14523G>T (p.Val4841=)
c.14439G>T (p.Val4813=)
 dbSNP gnomAD v2 gnomAD v4
19g.38580385G>ACA081256RYR1c.1463G>A
c.2860G>A
c.2832G>A
c.14527G>A (p.Gly4843Ser)
c.14512G>A (p.Gly4838Ser)
c.14509G>A (p.Gly4837Ser)
c.14494G>A (p.Gly4832Ser)
c.14524G>A (p.Gly4842Ser)
c.14440G>A (p.Gly4814Ser)
19g.38580385G>CCA405687601RYR1c.1463G>C
c.2860G>C
c.2832G>C
c.14527G>C (p.Gly4843Arg)
c.14512G>C (p.Gly4838Arg)
c.14509G>C (p.Gly4837Arg)
c.14494G>C (p.Gly4832Arg)
c.14524G>C (p.Gly4842Arg)
c.14440G>C (p.Gly4814Arg)
19g.38580385G>TCA405687600RYR1c.1463G>T
c.2860G>T
c.2832G>T
c.14527G>T (p.Gly4843Cys)
c.14512G>T (p.Gly4838Cys)
c.14509G>T (p.Gly4837Cys)
c.14494G>T (p.Gly4832Cys)
c.14524G>T (p.Gly4842Cys)
c.14440G>T (p.Gly4814Cys)
19g.38580386_38580387insAGGCA081239RYR1c.1464_1465insAGG
c.2861_2862insAGG
c.2833_2834insAGG
c.14528_14529insAGG (p.Gly4843_Leu4844insGly)
c.14513_14514insAGG (p.Gly4838_Leu4839insGly)
c.14510_14511insAGG (p.Gly4837_Leu4838insGly)
c.14495_14496insAGG (p.Gly4832_Leu4833insGly)
c.14525_14526insAGG (p.Gly4842_Leu4843insGly)
c.14441_14442insAGG (p.Gly4814_Leu4815insGly)
19g.38580386G>ACA405687603RYR1c.1464G>A
c.2861G>A
c.2833G>A
c.14528G>A (p.Gly4843Asp)
c.14513G>A (p.Gly4838Asp)
c.14510G>A (p.Gly4837Asp)
c.14495G>A (p.Gly4832Asp)
c.14525G>A (p.Gly4842Asp)
c.14441G>A (p.Gly4814Asp)
19g.38580386G>CCA405687605RYR1c.1464G>C
c.2861G>C
c.2833G>C
c.14528G>C (p.Gly4843Ala)
c.14513G>C (p.Gly4838Ala)
c.14510G>C (p.Gly4837Ala)
c.14495G>C (p.Gly4832Ala)
c.14525G>C (p.Gly4842Ala)
c.14441G>C (p.Gly4814Ala)
19g.38580386G>TCA405687607RYR1c.1464G>T
c.2861G>T
c.2833G>T
c.14528G>T (p.Gly4843Val)
c.14513G>T (p.Gly4838Val)
c.14510G>T (p.Gly4837Val)
c.14495G>T (p.Gly4832Val)
c.14525G>T (p.Gly4842Val)
c.14441G>T (p.Gly4814Val)
19g.38580387C>ACA507356035RYR1c.1465C>A
c.2862C>A
c.2834C>A
c.14529C>A (p.Gly4843=)
c.14514C>A (p.Gly4838=)
c.14511C>A (p.Gly4837=)
c.14496C>A (p.Gly4832=)
c.14526C>A (p.Gly4842=)
c.14442C>A (p.Gly4814=)
19g.38580387C>GCA507356036RYR1c.1465C>G
c.2862C>G
c.2834C>G
c.14529C>G (p.Gly4843=)
c.14514C>G (p.Gly4838=)
c.14511C>G (p.Gly4837=)
c.14496C>G (p.Gly4832=)
c.14526C>G (p.Gly4842=)
c.14442C>G (p.Gly4814=)
19g.38580387C>TCA507356037RYR1c.1465C>T
c.2862C>T
c.2834C>T
c.14529C>T (p.Gly4843=)
c.14514C>T (p.Gly4838=)
c.14511C>T (p.Gly4837=)
c.14496C>T (p.Gly4832=)
c.14526C>T (p.Gly4842=)
c.14442C>T (p.Gly4814=)
 gnomAD v4
19g.38580388C>ACA405687609RYR1c.1466C>A
c.2863C>A
c.2835C>A
c.14530C>A (p.Leu4844Ile)
c.14515C>A (p.Leu4839Ile)
c.14512C>A (p.Leu4838Ile)
c.14497C>A (p.Leu4833Ile)
c.14527C>A (p.Leu4843Ile)
c.14443C>A (p.Leu4815Ile)
19g.38580388C>GCA405687610RYR1c.1466C>G
c.2863C>G
c.2835C>G
c.14530C>G (p.Leu4844Val)
c.14515C>G (p.Leu4839Val)
c.14512C>G (p.Leu4838Val)
c.14497C>G (p.Leu4833Val)
c.14527C>G (p.Leu4843Val)
c.14443C>G (p.Leu4815Val)
19g.38580388C>TCA405687611RYR1c.1466C>T
c.2863C>T
c.2835C>T
c.14530C>T (p.Leu4844Phe)
c.14515C>T (p.Leu4839Phe)
c.14512C>T (p.Leu4838Phe)
c.14497C>T (p.Leu4833Phe)
c.14527C>T (p.Leu4843Phe)
c.14443C>T (p.Leu4815Phe)
 gnomAD v4
19g.38580389T>ACA405687612RYR1c.1467T>A
c.2864T>A
c.2836T>A
c.14531T>A (p.Leu4844His)
c.14516T>A (p.Leu4839His)
c.14513T>A (p.Leu4838His)
c.14498T>A (p.Leu4833His)
c.14528T>A (p.Leu4843His)
c.14444T>A (p.Leu4815His)
19g.38580389T>CCA405687613RYR1c.1467T>C
c.2864T>C
c.2836T>C
c.14531T>C (p.Leu4844Pro)
c.14516T>C (p.Leu4839Pro)
c.14513T>C (p.Leu4838Pro)
c.14498T>C (p.Leu4833Pro)
c.14528T>C (p.Leu4843Pro)
c.14444T>C (p.Leu4815Pro)
 ClinVar
19g.38580389T>GCA405687615RYR1c.1467T>G
c.2864T>G
c.2836T>G
c.14531T>G (p.Leu4844Arg)
c.14516T>G (p.Leu4839Arg)
c.14513T>G (p.Leu4838Arg)
c.14498T>G (p.Leu4833Arg)
c.14528T>G (p.Leu4843Arg)
c.14444T>G (p.Leu4815Arg)
19g.38580390T>ACA507356042RYR1c.1468T>A
c.2865T>A
c.2837T>A
c.14532T>A (p.Leu4844=)
c.14517T>A (p.Leu4839=)
c.14514T>A (p.Leu4838=)
c.14499T>A (p.Leu4833=)
c.14529T>A (p.Leu4843=)
c.14445T>A (p.Leu4815=)
19g.38580390T>CCA507356040RYR1c.1468T>C
c.2865T>C
c.2837T>C
c.14532T>C (p.Leu4844=)
c.14517T>C (p.Leu4839=)
c.14514T>C (p.Leu4838=)
c.14499T>C (p.Leu4833=)
c.14529T>C (p.Leu4843=)
c.14445T>C (p.Leu4815=)
19g.38580390T>GCA507356041RYR1c.1468T>G
c.2865T>G
c.2837T>G
c.14532T>G (p.Leu4844=)
c.14517T>G (p.Leu4839=)
c.14514T>G (p.Leu4838=)
c.14499T>G (p.Leu4833=)
c.14529T>G (p.Leu4843=)
c.14445T>G (p.Leu4815=)
19g.38580391C>ACA405687617RYR1c.1469C>A
c.2866C>A
c.2838C>A
c.14533C>A (p.Leu4845Met)
c.14518C>A (p.Leu4840Met)
c.14515C>A (p.Leu4839Met)
c.14500C>A (p.Leu4834Met)
c.14530C>A (p.Leu4844Met)
c.14446C>A (p.Leu4816Met)
 ClinVar dbSNP
19g.38580391C>GCA405687619RYR1c.1469C>G
c.2866C>G
c.2838C>G
c.14533C>G (p.Leu4845Val)
c.14518C>G (p.Leu4840Val)
c.14515C>G (p.Leu4839Val)
c.14500C>G (p.Leu4834Val)
c.14530C>G (p.Leu4844Val)
c.14446C>G (p.Leu4816Val)
19g.38580391C>TCA507356047RYR1c.1469C>T
c.2866C>T
c.2838C>T
c.14533C>T (p.Leu4845=)
c.14518C>T (p.Leu4840=)
c.14515C>T (p.Leu4839=)
c.14500C>T (p.Leu4834=)
c.14530C>T (p.Leu4844=)
c.14446C>T (p.Leu4816=)
19g.38580392T>ACA405687621RYR1c.1470T>A
c.2867T>A
c.2839T>A
c.14534T>A (p.Leu4845Gln)
c.14519T>A (p.Leu4840Gln)
c.14516T>A (p.Leu4839Gln)
c.14501T>A (p.Leu4834Gln)
c.14531T>A (p.Leu4844Gln)
c.14447T>A (p.Leu4816Gln)
19g.38580392T>CCA405687623RYR1c.1470T>C
c.2867T>C
c.2839T>C
c.14534T>C (p.Leu4845Pro)
c.14519T>C (p.Leu4840Pro)
c.14516T>C (p.Leu4839Pro)
c.14501T>C (p.Leu4834Pro)
c.14531T>C (p.Leu4844Pro)
c.14447T>C (p.Leu4816Pro)
19g.38580392T>GCA405687624RYR1c.1470T>G
c.2867T>G
c.2839T>G
c.14534T>G (p.Leu4845Arg)
c.14519T>G (p.Leu4840Arg)
c.14516T>G (p.Leu4839Arg)
c.14501T>G (p.Leu4834Arg)
c.14531T>G (p.Leu4844Arg)
c.14447T>G (p.Leu4816Arg)
19g.38580393G>ACA507356048RYR1c.1471G>A
c.2868G>A
c.2840G>A
c.14535G>A (p.Leu4845=)
c.14520G>A (p.Leu4840=)
c.14517G>A (p.Leu4839=)
c.14502G>A (p.Leu4834=)
c.14532G>A (p.Leu4844=)
c.14448G>A (p.Leu4816=)
 gnomAD v4
19g.38580393G>CCA308121927RYR1c.1471G>C
c.2868G>C
c.2840G>C
c.14535G>C (p.Leu4845=)
c.14520G>C (p.Leu4840=)
c.14517G>C (p.Leu4839=)
c.14502G>C (p.Leu4834=)
c.14532G>C (p.Leu4844=)
c.14448G>C (p.Leu4816=)
 dbSNP gnomAD v3 gnomAD v4
19g.38580393G=CA2335092451RYR1c.1471G=
c.2868G=
c.2840G=
c.14535G= (p.Leu4845=)
c.14520G= (p.Leu4840=)
c.14517G= (p.Leu4839=)
c.14502G= (p.Leu4834=)
c.14532G= (p.Leu4844=)
c.14448G= (p.Leu4816=)
19g.38580393G>TCA507356052RYR1c.1471G>T
c.2868G>T
c.2840G>T
c.14535G>T (p.Leu4845=)
c.14520G>T (p.Leu4840=)
c.14517G>T (p.Leu4839=)
c.14502G>T (p.Leu4834=)
c.14532G>T (p.Leu4844=)
c.14448G>T (p.Leu4816=)
19g.38580394G>ACA405687627RYR1c.1472G>A
c.2869G>A
c.2841G>A
c.14536G>A (p.Ala4846Thr)
c.14521G>A (p.Ala4841Thr)
c.14518G>A (p.Ala4840Thr)
c.14503G>A (p.Ala4835Thr)
c.14533G>A (p.Ala4845Thr)
c.14449G>A (p.Ala4817Thr)
19g.38580394G>CCA405687629RYR1c.1472G>C
c.2869G>C
c.2841G>C
c.14536G>C (p.Ala4846Pro)
c.14521G>C (p.Ala4841Pro)
c.14518G>C (p.Ala4840Pro)
c.14503G>C (p.Ala4835Pro)
c.14533G>C (p.Ala4845Pro)
c.14449G>C (p.Ala4817Pro)
 ClinVar dbSNP
19g.38580394G=CA2335092452RYR1c.1472G=
c.2869G=
c.2841G=
c.14536G= (p.Ala4846=)
c.14521G= (p.Ala4841=)
c.14518G= (p.Ala4840=)
c.14503G= (p.Ala4835=)
c.14533G= (p.Ala4845=)
c.14449G= (p.Ala4817=)
19g.38580394G>TCA405687625RYR1c.1472G>T
c.2869G>T
c.2841G>T
c.14536G>T (p.Ala4846Ser)
c.14521G>T (p.Ala4841Ser)
c.14518G>T (p.Ala4840Ser)
c.14503G>T (p.Ala4835Ser)
c.14533G>T (p.Ala4845Ser)
c.14449G>T (p.Ala4817Ser)
19g.38580395C>ACA405687631RYR1c.1473C>A
c.2870C>A
c.2842C>A
c.14537C>A (p.Ala4846Glu)
c.14522C>A (p.Ala4841Glu)
c.14519C>A (p.Ala4840Glu)
c.14504C>A (p.Ala4835Glu)
c.14534C>A (p.Ala4845Glu)
c.14450C>A (p.Ala4817Glu)
19g.38580395C=CA2335092453RYR1c.1473C=
c.2870C=
c.2842C=
c.14537C= (p.Ala4846=)
c.14522C= (p.Ala4841=)
c.14519C= (p.Ala4840=)
c.14504C= (p.Ala4835=)
c.14534C= (p.Ala4845=)
c.14450C= (p.Ala4817=)
19g.38580395C>GCA061378RYR1c.1473C>G
c.2870C>G
c.2842C>G
c.14537C>G (p.Ala4846Gly)
c.14522C>G (p.Ala4841Gly)
c.14519C>G (p.Ala4840Gly)
c.14504C>G (p.Ala4835Gly)
c.14534C>G (p.Ala4845Gly)
c.14450C>G (p.Ala4817Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38580395C>TCA024167RYR1c.1473C>T
c.2870C>T
c.2842C>T
c.14537C>T (p.Ala4846Val)
c.14522C>T (p.Ala4841Val)
c.14519C>T (p.Ala4840Val)
c.14504C>T (p.Ala4835Val)
c.14534C>T (p.Ala4845Val)
c.14450C>T (p.Ala4817Val)
 ClinVar dbSNP gnomAD v4
19g.38580395_38580398delinsCGGTCA2335092454RYR1c.1473_1476delinsCGGT
c.2870_2873delinsCGGT
c.2842_2845delinsCGGT
c.14537_14540delinsCGGT (p.Ala4846=)
c.14522_14525delinsCGGT (p.Ala4841=)
c.14519_14522delinsCGGT (p.Ala4840=)
c.14504_14507delinsCGGT (p.Ala4835=)
c.14534_14537delinsCGGT (p.Ala4845=)
c.14450_14453delinsCGGT (p.Ala4817=)
19g.38580396G>ACA308121949RYR1c.1474G>A
c.2871G>A
c.2843G>A
c.14538G>A (p.Ala4846=)
c.14523G>A (p.Ala4841=)
c.14520G>A (p.Ala4840=)
c.14505G>A (p.Ala4835=)
c.14535G>A (p.Ala4845=)
c.14451G>A (p.Ala4817=)
 dbSNP gnomAD v2 gnomAD v4
19g.38580396G>CCA061382RYR1c.1474G>C
c.2871G>C
c.2843G>C
c.14538G>C (p.Ala4846=)
c.14523G>C (p.Ala4841=)
c.14520G>C (p.Ala4840=)
c.14505G>C (p.Ala4835=)
c.14535G>C (p.Ala4845=)
c.14451G>C (p.Ala4817=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38580396G=CA2335092455RYR1c.1474G=
c.2871G=
c.2843G=
c.14538G= (p.Ala4846=)
c.14523G= (p.Ala4841=)
c.14520G= (p.Ala4840=)
c.14505G= (p.Ala4835=)
c.14535G= (p.Ala4845=)
c.14451G= (p.Ala4817=)
19g.38580396G>TCA507356055RYR1c.1474G>T
c.2871G>T
c.2843G>T
c.14538G>T (p.Ala4846=)
c.14523G>T (p.Ala4841=)
c.14520G>T (p.Ala4840=)
c.14505G>T (p.Ala4835=)
c.14535G>T (p.Ala4845=)
c.14451G>T (p.Ala4817=)
19g.38580399_38580401delCA658799201RYR1c.1477_1479del
c.2874_2876del
c.2846_2848del
c.14541_14543del (p.Val4848del)
c.14526_14528del (p.Val4843del)
c.14523_14525del (p.Val4842del)
c.14508_14510del (p.Val4837del)
c.14538_14540del (p.Val4847del)
c.14454_14456del (p.Val4819del)
 ClinVar dbSNP
19g.38580397G>ACA405687636RYR1c.1475G>A
c.2872G>A
c.2844G>A
c.14539G>A (p.Val4847Met)
c.14524G>A (p.Val4842Met)
c.14521G>A (p.Val4841Met)
c.14506G>A (p.Val4836Met)
c.14536G>A (p.Val4846Met)
c.14452G>A (p.Val4818Met)
19g.38580397G>CCA405687638RYR1c.1475G>C
c.2872G>C
c.2844G>C
c.14539G>C (p.Val4847Leu)
c.14524G>C (p.Val4842Leu)
c.14521G>C (p.Val4841Leu)
c.14506G>C (p.Val4836Leu)
c.14536G>C (p.Val4846Leu)
c.14452G>C (p.Val4818Leu)
 ClinVar dbSNP
19g.38580397G=CA2335092456RYR1c.1475G=
c.2872G=
c.2844G=
c.14539G= (p.Val4847=)
c.14524G= (p.Val4842=)
c.14521G= (p.Val4841=)
c.14506G= (p.Val4836=)
c.14536G= (p.Val4846=)
c.14452G= (p.Val4818=)
19g.38580397G>TCA405687639RYR1c.1475G>T
c.2872G>T
c.2844G>T
c.14539G>T (p.Val4847Leu)
c.14524G>T (p.Val4842Leu)
c.14521G>T (p.Val4841Leu)
c.14506G>T (p.Val4836Leu)
c.14536G>T (p.Val4846Leu)
c.14452G>T (p.Val4818Leu)
19g.38580398T>ACA405687641RYR1c.1476T>A
c.2873T>A
c.2845T>A
c.14540T>A (p.Val4847Glu)
c.14525T>A (p.Val4842Glu)
c.14522T>A (p.Val4841Glu)
c.14507T>A (p.Val4836Glu)
c.14537T>A (p.Val4846Glu)
c.14453T>A (p.Val4818Glu)
19g.38580398T>CCA405687644RYR1c.1476T>C
c.2873T>C
c.2845T>C
c.14540T>C (p.Val4847Ala)
c.14525T>C (p.Val4842Ala)
c.14522T>C (p.Val4841Ala)
c.14507T>C (p.Val4836Ala)
c.14537T>C (p.Val4846Ala)
c.14453T>C (p.Val4818Ala)
19g.38580398T>GCA405687646RYR1c.1476T>G
c.2873T>G
c.2845T>G
c.14540T>G (p.Val4847Gly)
c.14525T>G (p.Val4842Gly)
c.14522T>G (p.Val4841Gly)
c.14507T>G (p.Val4836Gly)
c.14537T>G (p.Val4846Gly)
c.14453T>G (p.Val4818Gly)
19g.38580399G>ACA507356063RYR1c.1477G>A
c.2874G>A
c.2846G>A
c.14541G>A (p.Val4847=)
c.14526G>A (p.Val4842=)
c.14523G>A (p.Val4841=)
c.14508G>A (p.Val4836=)
c.14538G>A (p.Val4846=)
c.14454G>A (p.Val4818=)
19g.38580399G>CCA081258RYR1c.1477G>C
c.2874G>C
c.2846G>C
c.14541G>C (p.Val4847=)
c.14526G>C (p.Val4842=)
c.14523G>C (p.Val4841=)
c.14508G>C (p.Val4836=)
c.14538G>C (p.Val4846=)
c.14454G>C (p.Val4818=)
19g.38580399G>TCA507356064RYR1c.1477G>T
c.2874G>T
c.2846G>T
c.14541G>T (p.Val4847=)
c.14526G>T (p.Val4842=)
c.14523G>T (p.Val4841=)
c.14508G>T (p.Val4836=)
c.14538G>T (p.Val4846=)
c.14454G>T (p.Val4818=)
19g.38580400G>ACA405687649RYR1c.1478G>A
c.2875G>A
c.2847G>A
c.14542G>A (p.Val4848Ile)
c.14527G>A (p.Val4843Ile)
c.14524G>A (p.Val4842Ile)
c.14509G>A (p.Val4837Ile)
c.14539G>A (p.Val4847Ile)
c.14455G>A (p.Val4819Ile)
19g.38580400G>CCA405687650RYR1c.1478G>C
c.2875G>C
c.2847G>C
c.14542G>C (p.Val4848Leu)
c.14527G>C (p.Val4843Leu)
c.14524G>C (p.Val4842Leu)
c.14509G>C (p.Val4837Leu)
c.14539G>C (p.Val4847Leu)
c.14455G>C (p.Val4819Leu)
 ClinVar dbSNP
19g.38580400G=CA2335092457RYR1c.1478G=
c.2875G=
c.2847G=
c.14542G= (p.Val4848=)
c.14527G= (p.Val4843=)
c.14524G= (p.Val4842=)
c.14509G= (p.Val4837=)
c.14539G= (p.Val4847=)
c.14455G= (p.Val4819=)
19g.38580400G>TCA405687651RYR1c.1478G>T
c.2875G>T
c.2847G>T
c.14542G>T (p.Val4848Phe)
c.14527G>T (p.Val4843Phe)
c.14524G>T (p.Val4842Phe)
c.14509G>T (p.Val4837Phe)
c.14539G>T (p.Val4847Phe)
c.14455G>T (p.Val4819Phe)
19g.38580401T>ACA405687655RYR1c.1479T>A
c.2876T>A
c.2848T>A
c.14543T>A (p.Val4848Asp)
c.14528T>A (p.Val4843Asp)
c.14525T>A (p.Val4842Asp)
c.14510T>A (p.Val4837Asp)
c.14540T>A (p.Val4847Asp)
c.14456T>A (p.Val4819Asp)
19g.38580401T>CCA405687653RYR1c.1479T>C
c.2876T>C
c.2848T>C
c.14543T>C (p.Val4848Ala)
c.14528T>C (p.Val4843Ala)
c.14525T>C (p.Val4842Ala)
c.14510T>C (p.Val4837Ala)
c.14540T>C (p.Val4847Ala)
c.14456T>C (p.Val4819Ala)
19g.38580401T>GCA405687654RYR1c.1479T>G
c.2876T>G
c.2848T>G
c.14543T>G (p.Val4848Gly)
c.14528T>G (p.Val4843Gly)
c.14525T>G (p.Val4842Gly)
c.14510T>G (p.Val4837Gly)
c.14540T>G (p.Val4847Gly)
c.14456T>G (p.Val4819Gly)
 dbSNP
19g.38580401T=CA2335092458RYR1c.1479T=
c.2876T=
c.2848T=
c.14543T= (p.Val4848=)
c.14528T= (p.Val4843=)
c.14525T= (p.Val4842=)
c.14510T= (p.Val4837=)
c.14540T= (p.Val4847=)
c.14456T= (p.Val4819=)
19g.38580403_38580429dupCA891863041RYR1c.1481_1507dup
c.2878_2904dup
c.2850_2876dup
c.14545_14571dup (p.Phe4857_Asn4858insValTyrLeuTyrThrValValAlaPhe)
c.14530_14556dup (p.Phe4852_Asn4853insValTyrLeuTyrThrValValAlaPhe)
c.14527_14553dup (p.Phe4851_Asn4852insValTyrLeuTyrThrValValAlaPhe)
c.14512_14538dup (p.Phe4846_Asn4847insValTyrLeuTyrThrValValAlaPhe)
c.14542_14568dup (p.Phe4856_Asn4857insValTyrLeuTyrThrValValAlaPhe)
c.14458_14484dup (p.Phe4828_Asn4829insValTyrLeuTyrThrValValAlaPhe)
 ClinVar dbSNP
19g.38580402C>ACA507356069RYR1c.1480C>A
c.2877C>A
c.2849C>A
c.14544C>A (p.Val4848=)
c.14529C>A (p.Val4843=)
c.14526C>A (p.Val4842=)
c.14511C>A (p.Val4837=)
c.14541C>A (p.Val4847=)
c.14457C>A (p.Val4819=)
19g.38580402C=CA2335092459RYR1c.1480C=
c.2877C=
c.2849C=
c.14544C= (p.Val4848=)
c.14529C= (p.Val4843=)
c.14526C= (p.Val4842=)
c.14511C= (p.Val4837=)
c.14541C= (p.Val4847=)
c.14457C= (p.Val4819=)
19g.38580402C>GCA507356070RYR1c.1480C>G
c.2877C>G
c.2849C>G
c.14544C>G (p.Val4848=)
c.14529C>G (p.Val4843=)
c.14526C>G (p.Val4842=)
c.14511C>G (p.Val4837=)
c.14541C>G (p.Val4847=)
c.14457C>G (p.Val4819=)
 dbSNP
19g.38580402C>TCA507356071RYR1c.1480C>T
c.2877C>T
c.2849C>T
c.14544C>T (p.Val4848=)
c.14529C>T (p.Val4843=)
c.14526C>T (p.Val4842=)
c.14511C>T (p.Val4837=)
c.14541C>T (p.Val4847=)
c.14457C>T (p.Val4819=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38580403G>ACA024171RYR1c.1481G>A
c.2878G>A
c.2850G>A
c.14545G>A (p.Val4849Ile)
c.14530G>A (p.Val4844Ile)
c.14527G>A (p.Val4843Ile)
c.14512G>A (p.Val4838Ile)
c.14542G>A (p.Val4848Ile)
c.14458G>A (p.Val4820Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38580403G>CCA405687656RYR1c.1481G>C
c.2878G>C
c.2850G>C
c.14545G>C (p.Val4849Leu)
c.14530G>C (p.Val4844Leu)
c.14527G>C (p.Val4843Leu)
c.14512G>C (p.Val4838Leu)
c.14542G>C (p.Val4848Leu)
c.14458G>C (p.Val4820Leu)
19g.38580403G=CA2335092460RYR1c.1481G=
c.2878G=
c.2850G=
c.14545G= (p.Val4849=)
c.14530G= (p.Val4844=)
c.14527G= (p.Val4843=)
c.14512G= (p.Val4838=)
c.14542G= (p.Val4848=)
c.14458G= (p.Val4820=)
19g.38580403G>TCA405687657RYR1c.1481G>T
c.2878G>T
c.2850G>T
c.14545G>T (p.Val4849Phe)
c.14530G>T (p.Val4844Phe)
c.14527G>T (p.Val4843Phe)
c.14512G>T (p.Val4838Phe)
c.14542G>T (p.Val4848Phe)
c.14458G>T (p.Val4820Phe)
 ClinVar dbSNP COSMIC
19g.38580404T>ACA405687658RYR1c.1482T>A
c.2879T>A
c.2851T>A
c.14546T>A (p.Val4849Asp)
c.14531T>A (p.Val4844Asp)
c.14528T>A (p.Val4843Asp)
c.14513T>A (p.Val4838Asp)
c.14543T>A (p.Val4848Asp)
c.14459T>A (p.Val4820Asp)
19g.38580404T>CCA405687659RYR1c.1482T>C
c.2879T>C
c.2851T>C
c.14546T>C (p.Val4849Ala)
c.14531T>C (p.Val4844Ala)
c.14528T>C (p.Val4843Ala)
c.14513T>C (p.Val4838Ala)
c.14543T>C (p.Val4848Ala)
c.14459T>C (p.Val4820Ala)
19g.38580404T>GCA405687660RYR1c.1482T>G
c.2879T>G
c.2851T>G
c.14546T>G (p.Val4849Gly)
c.14531T>G (p.Val4844Gly)
c.14528T>G (p.Val4843Gly)
c.14513T>G (p.Val4838Gly)
c.14543T>G (p.Val4848Gly)
c.14459T>G (p.Val4820Gly)
19g.38580405C>ACA507356077RYR1c.1483C>A
c.2880C>A
c.2852C>A
c.14547C>A (p.Val4849=)
c.14532C>A (p.Val4844=)
c.14529C>A (p.Val4843=)
c.14514C>A (p.Val4838=)
c.14544C>A (p.Val4848=)
c.14460C>A (p.Val4820=)
19g.38580405C>GCA507356080RYR1c.1483C>G
c.2880C>G
c.2852C>G
c.14547C>G (p.Val4849=)
c.14532C>G (p.Val4844=)
c.14529C>G (p.Val4843=)
c.14514C>G (p.Val4838=)
c.14544C>G (p.Val4848=)
c.14460C>G (p.Val4820=)
19g.38580405C>TCA507356082RYR1c.1483C>T
c.2880C>T
c.2852C>T
c.14547C>T (p.Val4849=)
c.14532C>T (p.Val4844=)
c.14529C>T (p.Val4843=)
c.14514C>T (p.Val4838=)
c.14544C>T (p.Val4848=)
c.14460C>T (p.Val4820=)
19g.38580406T>ACA405687662RYR1c.1484T>A
c.2881T>A
c.2853T>A
c.14548T>A (p.Tyr4850Asn)
c.14533T>A (p.Tyr4845Asn)
c.14530T>A (p.Tyr4844Asn)
c.14515T>A (p.Tyr4839Asn)
c.14545T>A (p.Tyr4849Asn)
c.14461T>A (p.Tyr4821Asn)
19g.38580406T>CCA405687664RYR1c.1484T>C
c.2881T>C
c.2853T>C
c.14548T>C (p.Tyr4850His)
c.14533T>C (p.Tyr4845His)
c.14530T>C (p.Tyr4844His)
c.14515T>C (p.Tyr4839His)
c.14545T>C (p.Tyr4849His)
c.14461T>C (p.Tyr4821His)
 ClinVar dbSNP
19g.38580406T>GCA405687666RYR1c.1484T>G
c.2881T>G
c.2853T>G
c.14548T>G (p.Tyr4850Asp)
c.14533T>G (p.Tyr4845Asp)
c.14530T>G (p.Tyr4844Asp)
c.14515T>G (p.Tyr4839Asp)
c.14545T>G (p.Tyr4849Asp)
c.14461T>G (p.Tyr4821Asp)
19g.38580407A=CA2335092461RYR1c.1485A=
c.2882A=
c.2854A=
c.14549A= (p.Tyr4850=)
c.14534A= (p.Tyr4845=)
c.14531A= (p.Tyr4844=)
c.14516A= (p.Tyr4839=)
c.14546A= (p.Tyr4849=)
c.14462A= (p.Tyr4821=)
19g.38580407A>CCA405687668RYR1c.1485A>C
c.2882A>C
c.2854A>C
c.14549A>C (p.Tyr4850Ser)
c.14534A>C (p.Tyr4845Ser)
c.14531A>C (p.Tyr4844Ser)
c.14516A>C (p.Tyr4839Ser)
c.14546A>C (p.Tyr4849Ser)
c.14462A>C (p.Tyr4821Ser)
19g.38580407A>GCA405687669RYR1c.1485A>G
c.2882A>G
c.2854A>G
c.14549A>G (p.Tyr4850Cys)
c.14534A>G (p.Tyr4845Cys)
c.14531A>G (p.Tyr4844Cys)
c.14516A>G (p.Tyr4839Cys)
c.14546A>G (p.Tyr4849Cys)
c.14462A>G (p.Tyr4821Cys)
 dbSNP
19g.38580407A>TCA405687670RYR1c.1485A>T
c.2882A>T
c.2854A>T
c.14549A>T (p.Tyr4850Phe)
c.14534A>T (p.Tyr4845Phe)
c.14531A>T (p.Tyr4844Phe)
c.14516A>T (p.Tyr4839Phe)
c.14546A>T (p.Tyr4849Phe)
c.14462A>T (p.Tyr4821Phe)
19g.38580408C>ACA405687671RYR1c.1486C>A
c.2883C>A
c.2855C>A
c.14550C>A (p.Tyr4850Ter)
c.14535C>A (p.Tyr4845Ter)
c.14532C>A (p.Tyr4844Ter)
c.14517C>A (p.Tyr4839Ter)
c.14547C>A (p.Tyr4849Ter)
c.14463C>A (p.Tyr4821Ter)
19g.38580408C>GCA405687672RYR1c.1486C>G
c.2883C>G
c.2855C>G
c.14550C>G (p.Tyr4850Ter)
c.14535C>G (p.Tyr4845Ter)
c.14532C>G (p.Tyr4844Ter)
c.14517C>G (p.Tyr4839Ter)
c.14547C>G (p.Tyr4849Ter)
c.14463C>G (p.Tyr4821Ter)
19g.38580408C>TCA507356087RYR1c.1486C>T
c.2883C>T
c.2855C>T
c.14550C>T (p.Tyr4850=)
c.14535C>T (p.Tyr4845=)
c.14532C>T (p.Tyr4844=)
c.14517C>T (p.Tyr4839=)
c.14547C>T (p.Tyr4849=)
c.14463C>T (p.Tyr4821=)
19g.38580409C>ACA405687673RYR1c.1487C>A
c.2884C>A
c.2856C>A
c.14551C>A (p.Leu4851Met)
c.14536C>A (p.Leu4846Met)
c.14533C>A (p.Leu4845Met)
c.14518C>A (p.Leu4840Met)
c.14548C>A (p.Leu4850Met)
c.14464C>A (p.Leu4822Met)
19g.38580409C>GCA405687674RYR1c.1487C>G
c.2884C>G
c.2856C>G
c.14551C>G (p.Leu4851Val)
c.14536C>G (p.Leu4846Val)
c.14533C>G (p.Leu4845Val)
c.14518C>G (p.Leu4840Val)
c.14548C>G (p.Leu4850Val)
c.14464C>G (p.Leu4822Val)
19g.38580409C>TCA507356088RYR1c.1487C>T
c.2884C>T
c.2856C>T
c.14551C>T (p.Leu4851=)
c.14536C>T (p.Leu4846=)
c.14533C>T (p.Leu4845=)
c.14518C>T (p.Leu4840=)
c.14548C>T (p.Leu4850=)
c.14464C>T (p.Leu4822=)
19g.38580410T>ACA405687675RYR1c.1488T>A
c.2885T>A
c.2857T>A
c.14552T>A (p.Leu4851Gln)
c.14537T>A (p.Leu4846Gln)
c.14534T>A (p.Leu4845Gln)
c.14519T>A (p.Leu4840Gln)
c.14549T>A (p.Leu4850Gln)
c.14465T>A (p.Leu4822Gln)
19g.38580410T>CCA405687678RYR1c.1488T>C
c.2885T>C
c.2857T>C
c.14552T>C (p.Leu4851Pro)
c.14537T>C (p.Leu4846Pro)
c.14534T>C (p.Leu4845Pro)
c.14519T>C (p.Leu4840Pro)
c.14549T>C (p.Leu4850Pro)
c.14465T>C (p.Leu4822Pro)
 ClinVar dbSNP
19g.38580410T>GCA405687676RYR1c.1488T>G
c.2885T>G
c.2857T>G
c.14552T>G (p.Leu4851Arg)
c.14537T>G (p.Leu4846Arg)
c.14534T>G (p.Leu4845Arg)
c.14519T>G (p.Leu4840Arg)
c.14549T>G (p.Leu4850Arg)
c.14465T>G (p.Leu4822Arg)
 dbSNP
19g.38580410T=CA2335092462RYR1c.1488T=
c.2885T=
c.2857T=
c.14552T= (p.Leu4851=)
c.14537T= (p.Leu4846=)
c.14534T= (p.Leu4845=)
c.14519T= (p.Leu4840=)
c.14549T= (p.Leu4850=)
c.14465T= (p.Leu4822=)
19g.38580411G>ACA507356095RYR1c.1489G>A
c.2886G>A
c.2858G>A
c.14553G>A (p.Leu4851=)
c.14538G>A (p.Leu4846=)
c.14535G>A (p.Leu4845=)
c.14520G>A (p.Leu4840=)
c.14550G>A (p.Leu4850=)
c.14466G>A (p.Leu4822=)
 ClinVar dbSNP
19g.38580411G>CCA507356097RYR1c.1489G>C
c.2886G>C
c.2858G>C
c.14553G>C (p.Leu4851=)
c.14538G>C (p.Leu4846=)
c.14535G>C (p.Leu4845=)
c.14520G>C (p.Leu4840=)
c.14550G>C (p.Leu4850=)
c.14466G>C (p.Leu4822=)
19g.38580411G>TCA507356098RYR1c.1489G>T
c.2886G>T
c.2858G>T
c.14553G>T (p.Leu4851=)
c.14538G>T (p.Leu4846=)
c.14535G>T (p.Leu4845=)
c.14520G>T (p.Leu4840=)
c.14550G>T (p.Leu4850=)
c.14466G>T (p.Leu4822=)
19g.38580412T>ACA405687680RYR1c.1490T>A
c.2887T>A
c.2859T>A
c.14554T>A (p.Tyr4852Asn)
c.14539T>A (p.Tyr4847Asn)
c.14536T>A (p.Tyr4846Asn)
c.14521T>A (p.Tyr4841Asn)
c.14551T>A (p.Tyr4851Asn)
c.14467T>A (p.Tyr4823Asn)
19g.38580412T>CCA405687683RYR1c.1490T>C
c.2887T>C
c.2859T>C
c.14554T>C (p.Tyr4852His)
c.14539T>C (p.Tyr4847His)
c.14536T>C (p.Tyr4846His)
c.14521T>C (p.Tyr4841His)
c.14551T>C (p.Tyr4851His)
c.14467T>C (p.Tyr4823His)
19g.38580412T>GCA405687682RYR1c.1490T>G
c.2887T>G
c.2859T>G
c.14554T>G (p.Tyr4852Asp)
c.14539T>G (p.Tyr4847Asp)
c.14536T>G (p.Tyr4846Asp)
c.14521T>G (p.Tyr4841Asp)
c.14551T>G (p.Tyr4851Asp)
c.14467T>G (p.Tyr4823Asp)
19g.38580413A=CA2335092463RYR1c.1491A=
c.2888A=
c.2860A=
c.14555A= (p.Tyr4852=)
c.14540A= (p.Tyr4847=)
c.14537A= (p.Tyr4846=)
c.14522A= (p.Tyr4841=)
c.14552A= (p.Tyr4851=)
c.14468A= (p.Tyr4823=)
19g.38580413A>CCA405687685RYR1c.1491A>C
c.2888A>C
c.2860A>C
c.14555A>C (p.Tyr4852Ser)
c.14540A>C (p.Tyr4847Ser)
c.14537A>C (p.Tyr4846Ser)
c.14522A>C (p.Tyr4841Ser)
c.14552A>C (p.Tyr4851Ser)
c.14468A>C (p.Tyr4823Ser)
19g.38580413A>GCA10604732RYR1c.1491A>G
c.2888A>G
c.2860A>G
c.14555A>G (p.Tyr4852Cys)
c.14540A>G (p.Tyr4847Cys)
c.14537A>G (p.Tyr4846Cys)
c.14522A>G (p.Tyr4841Cys)
c.14552A>G (p.Tyr4851Cys)
c.14468A>G (p.Tyr4823Cys)
 ClinVar dbSNP
19g.38580413A>TCA405687687RYR1c.1491A>T
c.2888A>T
c.2860A>T
c.14555A>T (p.Tyr4852Phe)
c.14540A>T (p.Tyr4847Phe)
c.14537A>T (p.Tyr4846Phe)
c.14522A>T (p.Tyr4841Phe)
c.14552A>T (p.Tyr4851Phe)
c.14468A>T (p.Tyr4823Phe)
19g.38580414C>ACA405687689RYR1c.1492C>A
c.2889C>A
c.2861C>A
c.14556C>A (p.Tyr4852Ter)
c.14541C>A (p.Tyr4847Ter)
c.14538C>A (p.Tyr4846Ter)
c.14523C>A (p.Tyr4841Ter)
c.14553C>A (p.Tyr4851Ter)
c.14469C>A (p.Tyr4823Ter)
19g.38580414C>GCA405687690RYR1c.1492C>G
c.2889C>G
c.2861C>G
c.14556C>G (p.Tyr4852Ter)
c.14541C>G (p.Tyr4847Ter)
c.14538C>G (p.Tyr4846Ter)
c.14523C>G (p.Tyr4841Ter)
c.14553C>G (p.Tyr4851Ter)
c.14469C>G (p.Tyr4823Ter)
19g.38580414C>TCA507356102RYR1c.1492C>T
c.2889C>T
c.2861C>T
c.14556C>T (p.Tyr4852=)
c.14541C>T (p.Tyr4847=)
c.14538C>T (p.Tyr4846=)
c.14523C>T (p.Tyr4841=)
c.14553C>T (p.Tyr4851=)
c.14469C>T (p.Tyr4823=)
 gnomAD v4
19g.38580415A>CCA405687691RYR1c.1493A>C
c.2890A>C
c.2862A>C
c.14557A>C (p.Thr4853Pro)
c.14542A>C (p.Thr4848Pro)
c.14539A>C (p.Thr4847Pro)
c.14524A>C (p.Thr4842Pro)
c.14554A>C (p.Thr4852Pro)
c.14470A>C (p.Thr4824Pro)
19g.38580415A>GCA405687692RYR1c.1493A>G
c.2890A>G
c.2862A>G
c.14557A>G (p.Thr4853Ala)
c.14542A>G (p.Thr4848Ala)
c.14539A>G (p.Thr4847Ala)
c.14524A>G (p.Thr4842Ala)
c.14554A>G (p.Thr4852Ala)
c.14470A>G (p.Thr4824Ala)
 gnomAD v4
19g.38580415A>TCA405687693RYR1c.1493A>T
c.2890A>T
c.2862A>T
c.14557A>T (p.Thr4853Ser)
c.14542A>T (p.Thr4848Ser)
c.14539A>T (p.Thr4847Ser)
c.14524A>T (p.Thr4842Ser)
c.14554A>T (p.Thr4852Ser)
c.14470A>T (p.Thr4824Ser)
19g.38580416C>ACA405687695RYR1c.1494C>A
c.2891C>A
c.2863C>A
c.14558C>A (p.Thr4853Asn)
c.14543C>A (p.Thr4848Asn)
c.14540C>A (p.Thr4847Asn)
c.14525C>A (p.Thr4842Asn)
c.14555C>A (p.Thr4852Asn)
c.14471C>A (p.Thr4824Asn)
 ClinVar
19g.38580416C=CA2335092464RYR1c.1494C=
c.2891C=
c.2863C=
c.14558C= (p.Thr4853=)
c.14543C= (p.Thr4848=)
c.14540C= (p.Thr4847=)
c.14525C= (p.Thr4842=)
c.14555C= (p.Thr4852=)
c.14471C= (p.Thr4824=)
19g.38580416C>GCA405687697RYR1c.1494C>G
c.2891C>G
c.2863C>G
c.14558C>G (p.Thr4853Ser)
c.14543C>G (p.Thr4848Ser)
c.14540C>G (p.Thr4847Ser)
c.14525C>G (p.Thr4842Ser)
c.14555C>G (p.Thr4852Ser)
c.14471C>G (p.Thr4824Ser)
 gnomAD v4
19g.38580416C>TCA405687698RYR1c.1494C>T
c.2891C>T
c.2863C>T
c.14558C>T (p.Thr4853Ile)
c.14543C>T (p.Thr4848Ile)
c.14540C>T (p.Thr4847Ile)
c.14525C>T (p.Thr4842Ile)
c.14555C>T (p.Thr4852Ile)
c.14471C>T (p.Thr4824Ile)
 ClinVar dbSNP
19g.38580417C>ACA507356105RYR1c.1495C>A
c.2892C>A
c.2864C>A
c.14559C>A (p.Thr4853=)
c.14544C>A (p.Thr4848=)
c.14541C>A (p.Thr4847=)
c.14526C>A (p.Thr4842=)
c.14556C>A (p.Thr4852=)
c.14472C>A (p.Thr4824=)
19g.38580417C=CA2335092465RYR1c.1495C=
c.2892C=
c.2864C=
c.14559C= (p.Thr4853=)
c.14544C= (p.Thr4848=)
c.14541C= (p.Thr4847=)
c.14526C= (p.Thr4842=)
c.14556C= (p.Thr4852=)
c.14472C= (p.Thr4824=)
19g.38580417C>GCA507356106RYR1c.1495C>G
c.2892C>G
c.2864C>G
c.14559C>G (p.Thr4853=)
c.14544C>G (p.Thr4848=)
c.14541C>G (p.Thr4847=)
c.14526C>G (p.Thr4842=)
c.14556C>G (p.Thr4852=)
c.14472C>G (p.Thr4824=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38580417C>TCA061387RYR1c.1495C>T
c.2892C>T
c.2864C>T
c.14559C>T (p.Thr4853=)
c.14544C>T (p.Thr4848=)
c.14541C>T (p.Thr4847=)
c.14526C>T (p.Thr4842=)
c.14556C>T (p.Thr4852=)
c.14472C>T (p.Thr4824=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38580417_38580420delinsCGTGCA2335092466RYR1c.1495_1498delinsCGTG
c.2892_2895delinsCGTG
c.2864_2867delinsCGTG
c.14559_14562delinsCGTG (p.Thr4853=)
c.14544_14547delinsCGTG (p.Thr4848=)
c.14541_14544delinsCGTG (p.Thr4847=)
c.14526_14529delinsCGTG (p.Thr4842=)
c.14556_14559delinsCGTG (p.Thr4852=)
c.14472_14475delinsCGTG (p.Thr4824=)
19g.38580418G>ACA405687700RYR1c.1496G>A
c.2893G>A
c.2865G>A
c.14560G>A (p.Val4854Met)
c.14545G>A (p.Val4849Met)
c.14542G>A (p.Val4848Met)
c.14527G>A (p.Val4843Met)
c.14557G>A (p.Val4853Met)
c.14473G>A (p.Val4825Met)
 dbSNP gnomAD v4 COSMIC
19g.38580418G>CCA405687701RYR1c.1496G>C
c.2893G>C
c.2865G>C
c.14560G>C (p.Val4854Leu)
c.14545G>C (p.Val4849Leu)
c.14542G>C (p.Val4848Leu)
c.14527G>C (p.Val4843Leu)
c.14557G>C (p.Val4853Leu)
c.14473G>C (p.Val4825Leu)
19g.38580418G=CA2335092467RYR1c.1496G=
c.2893G=
c.2865G=
c.14560G= (p.Val4854=)
c.14545G= (p.Val4849=)
c.14542G= (p.Val4848=)
c.14527G= (p.Val4843=)
c.14557G= (p.Val4853=)
c.14473G= (p.Val4825=)
19g.38580418G>TCA405687702RYR1c.1496G>T
c.2893G>T
c.2865G>T
c.14560G>T (p.Val4854Leu)
c.14545G>T (p.Val4849Leu)
c.14542G>T (p.Val4848Leu)
c.14527G>T (p.Val4843Leu)
c.14557G>T (p.Val4853Leu)
c.14473G>T (p.Val4825Leu)
19g.38580422_38580424delCA915953038RYR1c.1500_1502del
c.2897_2899del
c.2869_2871del
c.14564_14566del (p.Val4855del)
c.14549_14551del (p.Val4850del)
c.14546_14548del (p.Val4849del)
c.14531_14533del (p.Val4844del)
c.14561_14563del (p.Val4854del)
c.14477_14479del (p.Val4826del)
 ClinVar dbSNP
19g.38580419T>ACA405687703RYR1c.1497T>A
c.2894T>A
c.2866T>A
c.14561T>A (p.Val4854Glu)
c.14546T>A (p.Val4849Glu)
c.14543T>A (p.Val4848Glu)
c.14528T>A (p.Val4843Glu)
c.14558T>A (p.Val4853Glu)
c.14474T>A (p.Val4825Glu)
19g.38580419T>CCA405687704RYR1c.1497T>C
c.2894T>C
c.2866T>C
c.14561T>C (p.Val4854Ala)
c.14546T>C (p.Val4849Ala)
c.14543T>C (p.Val4848Ala)
c.14528T>C (p.Val4843Ala)
c.14558T>C (p.Val4853Ala)
c.14474T>C (p.Val4825Ala)
19g.38580419T>GCA405687705RYR1c.1497T>G
c.2894T>G
c.2866T>G
c.14561T>G (p.Val4854Gly)
c.14546T>G (p.Val4849Gly)
c.14543T>G (p.Val4848Gly)
c.14528T>G (p.Val4843Gly)
c.14558T>G (p.Val4853Gly)
c.14474T>G (p.Val4825Gly)
19g.38580420G>ACA507356109RYR1c.1498G>A
c.2895G>A
c.2867G>A
c.14562G>A (p.Val4854=)
c.14547G>A (p.Val4849=)
c.14544G>A (p.Val4848=)
c.14529G>A (p.Val4843=)
c.14559G>A (p.Val4853=)
c.14475G>A (p.Val4825=)
 gnomAD v4
19g.38580420G>CCA507356110RYR1c.1498G>C
c.2895G>C
c.2867G>C
c.14562G>C (p.Val4854=)
c.14547G>C (p.Val4849=)
c.14544G>C (p.Val4848=)
c.14529G>C (p.Val4843=)
c.14559G>C (p.Val4853=)
c.14475G>C (p.Val4825=)
19g.38580420G>TCA507356111RYR1c.1498G>T
c.2895G>T
c.2867G>T
c.14562G>T (p.Val4854=)
c.14547G>T (p.Val4849=)
c.14544G>T (p.Val4848=)
c.14529G>T (p.Val4843=)
c.14559G>T (p.Val4853=)
c.14475G>T (p.Val4825=)
19g.38580421G>ACA405687706RYR1c.1499G>A
c.2896G>A
c.2868G>A
c.14563G>A (p.Val4855Met)
c.14548G>A (p.Val4850Met)
c.14545G>A (p.Val4849Met)
c.14530G>A (p.Val4844Met)
c.14560G>A (p.Val4854Met)
c.14476G>A (p.Val4826Met)
19g.38580421G>CCA405687707RYR1c.1499G>C
c.2896G>C
c.2868G>C
c.14563G>C (p.Val4855Leu)
c.14548G>C (p.Val4850Leu)
c.14545G>C (p.Val4849Leu)
c.14530G>C (p.Val4844Leu)
c.14560G>C (p.Val4854Leu)
c.14476G>C (p.Val4826Leu)
19g.38580421G=CA2335092468RYR1c.1499G=
c.2896G=
c.2868G=
c.14563G= (p.Val4855=)
c.14548G= (p.Val4850=)
c.14545G= (p.Val4849=)
c.14530G= (p.Val4844=)
c.14560G= (p.Val4854=)
c.14476G= (p.Val4826=)
19g.38580421G>TCA061391RYR1c.1499G>T
c.2896G>T
c.2868G>T
c.14563G>T (p.Val4855Leu)
c.14548G>T (p.Val4850Leu)
c.14545G>T (p.Val4849Leu)
c.14530G>T (p.Val4844Leu)
c.14560G>T (p.Val4854Leu)
c.14476G>T (p.Val4826Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38580422T>ACA405687708RYR1c.1500T>A
c.2897T>A
c.2869T>A
c.14564T>A (p.Val4855Glu)
c.14549T>A (p.Val4850Glu)
c.14546T>A (p.Val4849Glu)
c.14531T>A (p.Val4844Glu)
c.14561T>A (p.Val4854Glu)
c.14477T>A (p.Val4826Glu)
 ClinVar dbSNP
19g.38580422T>CCA405687709RYR1c.1500T>C
c.2897T>C
c.2869T>C
c.14564T>C (p.Val4855Ala)
c.14549T>C (p.Val4850Ala)
c.14546T>C (p.Val4849Ala)
c.14531T>C (p.Val4844Ala)
c.14561T>C (p.Val4854Ala)
c.14477T>C (p.Val4826Ala)
19g.38580422T>GCA405687710RYR1c.1500T>G
c.2897T>G
c.2869T>G
c.14564T>G (p.Val4855Gly)
c.14549T>G (p.Val4850Gly)
c.14546T>G (p.Val4849Gly)
c.14531T>G (p.Val4844Gly)
c.14561T>G (p.Val4854Gly)
c.14477T>G (p.Val4826Gly)
19g.38580422T=CA2335092469RYR1c.1500T=
c.2897T=
c.2869T=
c.14564T= (p.Val4855=)
c.14549T= (p.Val4850=)
c.14546T= (p.Val4849=)
c.14531T= (p.Val4844=)
c.14561T= (p.Val4854=)
c.14477T= (p.Val4826=)
19g.38580423G>ACA507356113RYR1c.1501G>A
c.2898G>A
c.2870G>A
c.14565G>A (p.Val4855=)
c.14550G>A (p.Val4850=)
c.14547G>A (p.Val4849=)
c.14532G>A (p.Val4844=)
c.14562G>A (p.Val4854=)
c.14478G>A (p.Val4826=)
19g.38580423G>CCA507356114RYR1c.1501G>C
c.2898G>C
c.2870G>C
c.14565G>C (p.Val4855=)
c.14550G>C (p.Val4850=)
c.14547G>C (p.Val4849=)
c.14532G>C (p.Val4844=)
c.14562G>C (p.Val4854=)
c.14478G>C (p.Val4826=)
19g.38580423G>TCA507356115RYR1c.1501G>T
c.2898G>T
c.2870G>T
c.14565G>T (p.Val4855=)
c.14550G>T (p.Val4850=)
c.14547G>T (p.Val4849=)
c.14532G>T (p.Val4844=)
c.14562G>T (p.Val4854=)
c.14478G>T (p.Val4826=)
19g.38580424G>ACA405687711RYR1c.1502G>A
c.2899G>A
c.2871G>A
c.14566G>A (p.Ala4856Thr)
c.14551G>A (p.Ala4851Thr)
c.14548G>A (p.Ala4850Thr)
c.14533G>A (p.Ala4845Thr)
c.14563G>A (p.Ala4855Thr)
c.14479G>A (p.Ala4827Thr)
 ClinVar dbSNP
19g.38580424G>CCA405687712RYR1c.1502G>C
c.2899G>C
c.2871G>C
c.14566G>C (p.Ala4856Pro)
c.14551G>C (p.Ala4851Pro)
c.14548G>C (p.Ala4850Pro)
c.14533G>C (p.Ala4845Pro)
c.14563G>C (p.Ala4855Pro)
c.14479G>C (p.Ala4827Pro)
19g.38580424G>TCA081261RYR1c.1502G>T
c.2899G>T
c.2871G>T
c.14566G>T (p.Ala4856Ser)
c.14551G>T (p.Ala4851Ser)
c.14548G>T (p.Ala4850Ser)
c.14533G>T (p.Ala4845Ser)
c.14563G>T (p.Ala4855Ser)
c.14479G>T (p.Ala4827Ser)
19g.38580425C>ACA405687714RYR1c.1503C>A
c.2900C>A
c.2872C>A
c.14567C>A (p.Ala4856Asp)
c.14552C>A (p.Ala4851Asp)
c.14549C>A (p.Ala4850Asp)
c.14534C>A (p.Ala4845Asp)
c.14564C>A (p.Ala4855Asp)
c.14480C>A (p.Ala4827Asp)
19g.38580425C=CA2335092470RYR1c.1503C=
c.2900C=
c.2872C=
c.14567C= (p.Ala4856=)
c.14552C= (p.Ala4851=)
c.14549C= (p.Ala4850=)
c.14534C= (p.Ala4845=)
c.14564C= (p.Ala4855=)
c.14480C= (p.Ala4827=)
19g.38580425C>GCA024172RYR1c.1503C>G
c.2900C>G
c.2872C>G
c.14567C>G (p.Ala4856Gly)
c.14552C>G (p.Ala4851Gly)
c.14549C>G (p.Ala4850Gly)
c.14534C>G (p.Ala4845Gly)
c.14564C>G (p.Ala4855Gly)
c.14480C>G (p.Ala4827Gly)
 ClinVar dbSNP
19g.38580425C>TCA405687716RYR1c.1503C>T
c.2900C>T
c.2872C>T
c.14567C>T (p.Ala4856Val)
c.14552C>T (p.Ala4851Val)
c.14549C>T (p.Ala4850Val)
c.14534C>T (p.Ala4845Val)
c.14564C>T (p.Ala4855Val)
c.14480C>T (p.Ala4827Val)
19g.38580426C>ACA507356120RYR1c.1504C>A
c.2901C>A
c.2873C>A
c.14568C>A (p.Ala4856=)
c.14553C>A (p.Ala4851=)
c.14550C>A (p.Ala4850=)
c.14535C>A (p.Ala4845=)
c.14565C>A (p.Ala4855=)
c.14481C>A (p.Ala4827=)
19g.38580426C>GCA507356121RYR1c.1504C>G
c.2901C>G
c.2873C>G
c.14568C>G (p.Ala4856=)
c.14553C>G (p.Ala4851=)
c.14550C>G (p.Ala4850=)
c.14535C>G (p.Ala4845=)
c.14565C>G (p.Ala4855=)
c.14481C>G (p.Ala4827=)
19g.38580426C>TCA507356122RYR1c.1504C>T
c.2901C>T
c.2873C>T
c.14568C>T (p.Ala4856=)
c.14553C>T (p.Ala4851=)
c.14550C>T (p.Ala4850=)
c.14535C>T (p.Ala4845=)
c.14565C>T (p.Ala4855=)
c.14481C>T (p.Ala4827=)
19g.38580427T>ACA405687717RYR1c.1505T>A
c.2902T>A
c.2874T>A
c.14569T>A (p.Phe4857Ile)
c.14554T>A (p.Phe4852Ile)
c.14551T>A (p.Phe4851Ile)
c.14536T>A (p.Phe4846Ile)
c.14566T>A (p.Phe4856Ile)
c.14482T>A (p.Phe4828Ile)
19g.38580427T>CCA405687719RYR1c.1505T>C
c.2902T>C
c.2874T>C
c.14569T>C (p.Phe4857Leu)
c.14554T>C (p.Phe4852Leu)
c.14551T>C (p.Phe4851Leu)
c.14536T>C (p.Phe4846Leu)
c.14566T>C (p.Phe4856Leu)
c.14482T>C (p.Phe4828Leu)
 ClinVar dbSNP
19g.38580427T>GCA405687721RYR1c.1505T>G
c.2902T>G
c.2874T>G
c.14569T>G (p.Phe4857Val)
c.14554T>G (p.Phe4852Val)
c.14551T>G (p.Phe4851Val)
c.14536T>G (p.Phe4846Val)
c.14566T>G (p.Phe4856Val)
c.14482T>G (p.Phe4828Val)
19g.38580428T>ACA405687728RYR1c.1506T>A
c.2903T>A
c.2875T>A
c.14570T>A (p.Phe4857Tyr)
c.14555T>A (p.Phe4852Tyr)
c.14552T>A (p.Phe4851Tyr)
c.14537T>A (p.Phe4846Tyr)
c.14567T>A (p.Phe4856Tyr)
c.14483T>A (p.Phe4828Tyr)
 ClinVar dbSNP
19g.38580428T>CCA405687723RYR1c.1506T>C
c.2903T>C
c.2875T>C
c.14570T>C (p.Phe4857Ser)
c.14555T>C (p.Phe4852Ser)
c.14552T>C (p.Phe4851Ser)
c.14537T>C (p.Phe4846Ser)
c.14567T>C (p.Phe4856Ser)
c.14483T>C (p.Phe4828Ser)
 ClinVar dbSNP
19g.38580428T>GCA405687725RYR1c.1506T>G
c.2903T>G
c.2875T>G
c.14570T>G (p.Phe4857Cys)
c.14555T>G (p.Phe4852Cys)
c.14552T>G (p.Phe4851Cys)
c.14537T>G (p.Phe4846Cys)
c.14567T>G (p.Phe4856Cys)
c.14483T>G (p.Phe4828Cys)
 ClinVar
19g.38580428T=CA2335092471RYR1c.1506T=
c.2903T=
c.2875T=
c.14570T= (p.Phe4857=)
c.14555T= (p.Phe4852=)
c.14552T= (p.Phe4851=)
c.14537T= (p.Phe4846=)
c.14567T= (p.Phe4856=)
c.14483T= (p.Phe4828=)
19g.38580429C>ACA405687729RYR1c.1507C>A
c.2904C>A
c.2876C>A
c.14571C>A (p.Phe4857Leu)
c.14556C>A (p.Phe4852Leu)
c.14553C>A (p.Phe4851Leu)
c.14538C>A (p.Phe4846Leu)
c.14568C>A (p.Phe4856Leu)
c.14484C>A (p.Phe4828Leu)
19g.38580429C>GCA405687730RYR1c.1507C>G
c.2904C>G
c.2876C>G
c.14571C>G (p.Phe4857Leu)
c.14556C>G (p.Phe4852Leu)
c.14553C>G (p.Phe4851Leu)
c.14538C>G (p.Phe4846Leu)
c.14568C>G (p.Phe4856Leu)
c.14484C>G (p.Phe4828Leu)
19g.38580429C>TCA507356124RYR1c.1507C>T
c.2904C>T
c.2876C>T
c.14571C>T (p.Phe4857=)
c.14556C>T (p.Phe4852=)
c.14553C>T (p.Phe4851=)
c.14538C>T (p.Phe4846=)
c.14568C>T (p.Phe4856=)
c.14484C>T (p.Phe4828=)
19g.38580430A=CA2335092472RYR1c.1508A=
c.2905A=
c.2877A=
c.14572A= (p.Asn4858=)
c.14557A= (p.Asn4853=)
c.14554A= (p.Asn4852=)
c.14539A= (p.Asn4847=)
c.14569A= (p.Asn4857=)
c.14485A= (p.Asn4829=)
19g.38580430A>CCA405687731RYR1c.1508A>C
c.2905A>C
c.2877A>C
c.14572A>C (p.Asn4858His)
c.14557A>C (p.Asn4853His)
c.14554A>C (p.Asn4852His)
c.14539A>C (p.Asn4847His)
c.14569A>C (p.Asn4857His)
c.14485A>C (p.Asn4829His)
19g.38580430A>GCA024174RYR1c.1508A>G
c.2905A>G
c.2877A>G
c.14572A>G (p.Asn4858Asp)
c.14557A>G (p.Asn4853Asp)
c.14554A>G (p.Asn4852Asp)
c.14539A>G (p.Asn4847Asp)
c.14569A>G (p.Asn4857Asp)
c.14485A>G (p.Asn4829Asp)
 ClinVar dbSNP
19g.38580430A>TCA405687733RYR1c.1508A>T
c.2905A>T
c.2877A>T
c.14572A>T (p.Asn4858Tyr)
c.14557A>T (p.Asn4853Tyr)
c.14554A>T (p.Asn4852Tyr)
c.14539A>T (p.Asn4847Tyr)
c.14569A>T (p.Asn4857Tyr)
c.14485A>T (p.Asn4829Tyr)
19g.38580431A=CA2335092474RYR1c.1509A=
c.2906A=
c.2878A=
c.14573A= (p.Asn4858=)
c.14558A= (p.Asn4853=)
c.14555A= (p.Asn4852=)
c.14540A= (p.Asn4847=)
c.14570A= (p.Asn4857=)
c.14486A= (p.Asn4829=)
19g.38580431A>CCA405687736RYR1c.1509A>C
c.2906A>C
c.2878A>C
c.14573A>C (p.Asn4858Thr)
c.14558A>C (p.Asn4853Thr)
c.14555A>C (p.Asn4852Thr)
c.14540A>C (p.Asn4847Thr)
c.14570A>C (p.Asn4857Thr)
c.14486A>C (p.Asn4829Thr)
19g.38580431A>GCA405687738RYR1c.1509A>G
c.2906A>G
c.2878A>G
c.14573A>G (p.Asn4858Ser)
c.14558A>G (p.Asn4853Ser)
c.14555A>G (p.Asn4852Ser)
c.14540A>G (p.Asn4847Ser)
c.14570A>G (p.Asn4857Ser)
c.14486A>G (p.Asn4829Ser)
 ClinVar dbSNP gnomAD v4
19g.38580431A>TCA405687741RYR1c.1509A>T
c.2906A>T
c.2878A>T
c.14573A>T (p.Asn4858Ile)
c.14558A>T (p.Asn4853Ile)
c.14555A>T (p.Asn4852Ile)
c.14540A>T (p.Asn4847Ile)
c.14570A>T (p.Asn4857Ile)
c.14486A>T (p.Asn4829Ile)
19g.38580431_38580434delinsACTTCA2335092473RYR1c.1509_1512delinsACTT
c.2906_2909delinsACTT
c.2878_2881delinsACTT
c.14573_14576delinsACTT (p.Asn4858=)
c.14558_14561delinsACTT (p.Asn4853=)
c.14555_14558delinsACTT (p.Asn4852=)
c.14540_14543delinsACTT (p.Asn4847=)
c.14570_14573delinsACTT (p.Asn4857=)
c.14486_14489delinsACTT (p.Asn4829=)
19g.38580432C>ACA405687744RYR1c.1510C>A
c.2907C>A
c.2879C>A
c.14574C>A (p.Asn4858Lys)
c.14559C>A (p.Asn4853Lys)
c.14556C>A (p.Asn4852Lys)
c.14541C>A (p.Asn4847Lys)
c.14571C>A (p.Asn4857Lys)
c.14487C>A (p.Asn4829Lys)
19g.38580432C=CA2335092475RYR1c.1510C=
c.2907C=
c.2879C=
c.14574C= (p.Asn4858=)
c.14559C= (p.Asn4853=)
c.14556C= (p.Asn4852=)
c.14541C= (p.Asn4847=)
c.14571C= (p.Asn4857=)
c.14487C= (p.Asn4829=)
19g.38580432C>GCA405687747RYR1c.1510C>G
c.2907C>G
c.2879C>G
c.14574C>G (p.Asn4858Lys)
c.14559C>G (p.Asn4853Lys)
c.14556C>G (p.Asn4852Lys)
c.14541C>G (p.Asn4847Lys)
c.14571C>G (p.Asn4857Lys)
c.14487C>G (p.Asn4829Lys)
19g.38580432C>TCA507356126RYR1c.1510C>T
c.2907C>T
c.2879C>T
c.14574C>T (p.Asn4858=)
c.14559C>T (p.Asn4853=)
c.14556C>T (p.Asn4852=)
c.14541C>T (p.Asn4847=)
c.14571C>T (p.Asn4857=)
c.14487C>T (p.Asn4829=)
 dbSNP
19g.38580436_38580438delCA024177RYR1c.1514_1516del
c.2911_2913del
c.2883_2885del
c.14578_14580del (p.Phe4860del)
c.14563_14565del (p.Phe4855del)
c.14560_14562del (p.Phe4854del)
c.14545_14547del (p.Phe4849del)
c.14575_14577del (p.Phe4859del)
c.14491_14493del (p.Phe4831del)
 ClinVar dbSNP
19g.38580433T>ACA405687752RYR1c.1511T>A
c.2908T>A
c.2880T>A
c.14575T>A (p.Phe4859Ile)
c.14560T>A (p.Phe4854Ile)
c.14557T>A (p.Phe4853Ile)
c.14542T>A (p.Phe4848Ile)
c.14572T>A (p.Phe4858Ile)
c.14488T>A (p.Phe4830Ile)
19g.38580433T>CCA405687753RYR1c.1511T>C
c.2908T>C
c.2880T>C
c.14575T>C (p.Phe4859Leu)
c.14560T>C (p.Phe4854Leu)
c.14557T>C (p.Phe4853Leu)
c.14542T>C (p.Phe4848Leu)
c.14572T>C (p.Phe4858Leu)
c.14488T>C (p.Phe4830Leu)
19g.38580433T>GCA405687756RYR1c.1511T>G
c.2908T>G
c.2880T>G
c.14575T>G (p.Phe4859Val)
c.14560T>G (p.Phe4854Val)
c.14557T>G (p.Phe4853Val)
c.14542T>G (p.Phe4848Val)
c.14572T>G (p.Phe4858Val)
c.14488T>G (p.Phe4830Val)
19g.38580434T>ACA405687762RYR1c.1512T>A
c.2909T>A
c.2881T>A
c.14576T>A (p.Phe4859Tyr)
c.14561T>A (p.Phe4854Tyr)
c.14558T>A (p.Phe4853Tyr)
c.14543T>A (p.Phe4848Tyr)
c.14573T>A (p.Phe4858Tyr)
c.14489T>A (p.Phe4830Tyr)
 gnomAD v4
19g.38580434T>CCA405687758RYR1c.1512T>C
c.2909T>C
c.2881T>C
c.14576T>C (p.Phe4859Ser)
c.14561T>C (p.Phe4854Ser)
c.14558T>C (p.Phe4853Ser)
c.14543T>C (p.Phe4848Ser)
c.14573T>C (p.Phe4858Ser)
c.14489T>C (p.Phe4830Ser)
19g.38580434T>GCA405687761RYR1c.1512T>G
c.2909T>G
c.2881T>G
c.14576T>G (p.Phe4859Cys)
c.14561T>G (p.Phe4854Cys)
c.14558T>G (p.Phe4853Cys)
c.14543T>G (p.Phe4848Cys)
c.14573T>G (p.Phe4858Cys)
c.14489T>G (p.Phe4830Cys)
19g.38580435C>ACA405687765RYR1c.1513C>A
c.2910C>A
c.2882C>A
c.14577C>A (p.Phe4859Leu)
c.14562C>A (p.Phe4854Leu)
c.14559C>A (p.Phe4853Leu)
c.14544C>A (p.Phe4848Leu)
c.14574C>A (p.Phe4858Leu)
c.14490C>A (p.Phe4830Leu)
 gnomAD v4
19g.38580435C>GCA405687766RYR1c.1513C>G
c.2910C>G
c.2882C>G
c.14577C>G (p.Phe4859Leu)
c.14562C>G (p.Phe4854Leu)
c.14559C>G (p.Phe4853Leu)
c.14544C>G (p.Phe4848Leu)
c.14574C>G (p.Phe4858Leu)
c.14490C>G (p.Phe4830Leu)
19g.38580435C>TCA507356127RYR1c.1513C>T
c.2910C>T
c.2882C>T
c.14577C>T (p.Phe4859=)
c.14562C>T (p.Phe4854=)
c.14559C>T (p.Phe4853=)
c.14544C>T (p.Phe4848=)
c.14574C>T (p.Phe4858=)
c.14490C>T (p.Phe4830=)
 COSMIC
19g.38580436T>ACA405687775RYR1c.1514T>A
c.2911T>A
c.2883T>A
c.14578T>A (p.Phe4860Ile)
c.14563T>A (p.Phe4855Ile)
c.14560T>A (p.Phe4854Ile)
c.14545T>A (p.Phe4849Ile)
c.14575T>A (p.Phe4859Ile)
c.14491T>A (p.Phe4831Ile)
19g.38580436T>CCA405687778RYR1c.1514T>C
c.2911T>C
c.2883T>C
c.14578T>C (p.Phe4860Leu)
c.14563T>C (p.Phe4855Leu)
c.14560T>C (p.Phe4854Leu)
c.14545T>C (p.Phe4849Leu)
c.14575T>C (p.Phe4859Leu)
c.14491T>C (p.Phe4831Leu)
19g.38580436T>GCA024183RYR1c.1514T>G
c.2911T>G
c.2883T>G
c.14578T>G (p.Phe4860Val)
c.14563T>G (p.Phe4855Val)
c.14560T>G (p.Phe4854Val)
c.14545T>G (p.Phe4849Val)
c.14575T>G (p.Phe4859Val)
c.14491T>G (p.Phe4831Val)
 ClinVar dbSNP
19g.38580436T=CA2335092476RYR1c.1514T=
c.2911T=
c.2883T=
c.14578T= (p.Phe4860=)
c.14563T= (p.Phe4855=)
c.14560T= (p.Phe4854=)
c.14545T= (p.Phe4849=)
c.14575T= (p.Phe4859=)
c.14491T= (p.Phe4831=)
19g.38580437T>ACA405687782RYR1c.1515T>A
c.2912T>A
c.2884T>A
c.14579T>A (p.Phe4860Tyr)
c.14564T>A (p.Phe4855Tyr)
c.14561T>A (p.Phe4854Tyr)
c.14546T>A (p.Phe4849Tyr)
c.14576T>A (p.Phe4859Tyr)
c.14492T>A (p.Phe4831Tyr)
19g.38580437T>CCA405687783RYR1c.1515T>C
c.2912T>C
c.2884T>C
c.14579T>C (p.Phe4860Ser)
c.14564T>C (p.Phe4855Ser)
c.14561T>C (p.Phe4854Ser)
c.14546T>C (p.Phe4849Ser)
c.14576T>C (p.Phe4859Ser)
c.14492T>C (p.Phe4831Ser)
 ClinVar dbSNP
19g.38580437T>GCA405687786RYR1c.1515T>G
c.2912T>G
c.2884T>G
c.14579T>G (p.Phe4860Cys)
c.14564T>G (p.Phe4855Cys)
c.14561T>G (p.Phe4854Cys)
c.14546T>G (p.Phe4849Cys)
c.14576T>G (p.Phe4859Cys)
c.14492T>G (p.Phe4831Cys)
19g.38580437T=CA2335092478RYR1c.1515T=
c.2912T=
c.2884T=
c.14579T= (p.Phe4860=)
c.14564T= (p.Phe4855=)
c.14561T= (p.Phe4854=)
c.14546T= (p.Phe4849=)
c.14576T= (p.Phe4859=)
c.14492T= (p.Phe4831=)
19g.38580437_38580438delinsAACA658799204RYR1c.1515_1516delinsAA
c.2912_2913delinsAA
c.2884_2885delinsAA
c.14579_14580delinsAA (p.Phe4860Ter)
c.14564_14565delinsAA (p.Phe4855Ter)
c.14561_14562delinsAA (p.Phe4854Ter)
c.14546_14547delinsAA (p.Phe4849Ter)
c.14576_14577delinsAA (p.Phe4859Ter)
c.14492_14493delinsAA (p.Phe4831Ter)
 ClinVar dbSNP
19g.38580437_38580438delinsTCCA2335092477RYR1c.1515_1516delinsTC
c.2912_2913delinsTC
c.2884_2885delinsTC
c.14579_14580delinsTC (p.Phe4860=)
c.14564_14565delinsTC (p.Phe4855=)
c.14561_14562delinsTC (p.Phe4854=)
c.14546_14547delinsTC (p.Phe4849=)
c.14576_14577delinsTC (p.Phe4859=)
c.14492_14493delinsTC (p.Phe4831=)
19g.38580438C>ACA405687788RYR1c.1516C>A
c.2913C>A
c.2885C>A
c.14580C>A (p.Phe4860Leu)
c.14565C>A (p.Phe4855Leu)
c.14562C>A (p.Phe4854Leu)
c.14547C>A (p.Phe4849Leu)
c.14577C>A (p.Phe4859Leu)
c.14493C>A (p.Phe4831Leu)
19g.38580438C=CA2335092479RYR1c.1516C=
c.2913C=
c.2885C=
c.14580C= (p.Phe4860=)
c.14565C= (p.Phe4855=)
c.14562C= (p.Phe4854=)
c.14547C= (p.Phe4849=)
c.14577C= (p.Phe4859=)
c.14493C= (p.Phe4831=)
19g.38580438C>GCA405687791RYR1c.1516C>G
c.2913C>G
c.2885C>G
c.14580C>G (p.Phe4860Leu)
c.14565C>G (p.Phe4855Leu)
c.14562C>G (p.Phe4854Leu)
c.14547C>G (p.Phe4849Leu)
c.14577C>G (p.Phe4859Leu)
c.14493C>G (p.Phe4831Leu)
 dbSNP gnomAD v3 gnomAD v4
19g.38580438C>TCA061395RYR1c.1516C>T
c.2913C>T
c.2885C>T
c.14580C>T (p.Phe4860=)
c.14565C>T (p.Phe4855=)
c.14562C>T (p.Phe4854=)
c.14547C>T (p.Phe4849=)
c.14577C>T (p.Phe4859=)
c.14493C>T (p.Phe4831=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38580439C>ACA405687794RYR1c.1517C>A
c.2914C>A
c.2886C>A
c.14581C>A (p.Arg4861Ser)
c.14566C>A (p.Arg4856Ser)
c.14563C>A (p.Arg4855Ser)
c.14548C>A (p.Arg4850Ser)
c.14578C>A (p.Arg4860Ser)
c.14494C>A (p.Arg4832Ser)
 ClinVar
19g.38580439C=CA2335092480RYR1c.1517C=
c.2914C=
c.2886C=
c.14581C= (p.Arg4861=)
c.14566C= (p.Arg4856=)
c.14563C= (p.Arg4855=)
c.14548C= (p.Arg4850=)
c.14578C= (p.Arg4860=)
c.14494C= (p.Arg4832=)
19g.38580439C>GCA405687798RYR1c.1517C>G
c.2914C>G
c.2886C>G
c.14581C>G (p.Arg4861Gly)
c.14566C>G (p.Arg4856Gly)
c.14563C>G (p.Arg4855Gly)
c.14548C>G (p.Arg4850Gly)
c.14578C>G (p.Arg4860Gly)
c.14494C>G (p.Arg4832Gly)
 ClinVar dbSNP gnomAD v4
19g.38580439C>TCA024185RYR1c.1517C>T
c.2914C>T
c.2886C>T
c.14581C>T (p.Arg4861Cys)
c.14566C>T (p.Arg4856Cys)
c.14563C>T (p.Arg4855Cys)
c.14548C>T (p.Arg4850Cys)
c.14578C>T (p.Arg4860Cys)
c.14494C>T (p.Arg4832Cys)
 ClinVar dbSNP gnomAD v4
19g.38580440G>ACA024187RYR1c.1518G>A
c.2915G>A
c.2887G>A
c.14582G>A (p.Arg4861His)
c.14567G>A (p.Arg4856His)
c.14564G>A (p.Arg4855His)
c.14549G>A (p.Arg4850His)
c.14579G>A (p.Arg4860His)
c.14495G>A (p.Arg4832His)
 ClinVar dbSNP gnomAD v4
19g.38580440G>CCA405687804RYR1c.1518G>C
c.2915G>C
c.2887G>C
c.14582G>C (p.Arg4861Pro)
c.14567G>C (p.Arg4856Pro)
c.14564G>C (p.Arg4855Pro)
c.14549G>C (p.Arg4850Pro)
c.14579G>C (p.Arg4860Pro)
c.14495G>C (p.Arg4832Pro)
 ClinVar dbSNP
19g.38580440G=CA2335092481RYR1c.1518G=
c.2915G=
c.2887G=
c.14582G= (p.Arg4861=)
c.14567G= (p.Arg4856=)
c.14564G= (p.Arg4855=)
c.14549G= (p.Arg4850=)
c.14579G= (p.Arg4860=)
c.14495G= (p.Arg4832=)
19g.38580440G>TCA405687806RYR1c.1518G>T
c.2915G>T
c.2887G>T
c.14582G>T (p.Arg4861Leu)
c.14567G>T (p.Arg4856Leu)
c.14564G>T (p.Arg4855Leu)
c.14549G>T (p.Arg4850Leu)
c.14579G>T (p.Arg4860Leu)
c.14495G>T (p.Arg4832Leu)
19g.38580441C>ACA061401RYR1c.1519C>A
c.2916C>A
c.2888C>A
c.14583C>A (p.Arg4861=)
c.14568C>A (p.Arg4856=)
c.14565C>A (p.Arg4855=)
c.14550C>A (p.Arg4850=)
c.14580C>A (p.Arg4860=)
c.14496C>A (p.Arg4832=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38580441C=CA2335092482RYR1c.1519C=
c.2916C=
c.2888C=
c.14583C= (p.Arg4861=)
c.14568C= (p.Arg4856=)
c.14565C= (p.Arg4855=)
c.14550C= (p.Arg4850=)
c.14580C= (p.Arg4860=)
c.14496C= (p.Arg4832=)
19g.38580441C>GCA507356128RYR1c.1519C>G
c.2916C>G
c.2888C>G
c.14583C>G (p.Arg4861=)
c.14568C>G (p.Arg4856=)
c.14565C>G (p.Arg4855=)
c.14550C>G (p.Arg4850=)
c.14580C>G (p.Arg4860=)
c.14496C>G (p.Arg4832=)
 dbSNP
19g.38580441C>TCA081262RYR1c.1519C>T
c.2916C>T
c.2888C>T
c.14583C>T (p.Arg4861=)
c.14568C>T (p.Arg4856=)
c.14565C>T (p.Arg4855=)
c.14550C>T (p.Arg4850=)
c.14580C>T (p.Arg4860=)
c.14496C>T (p.Arg4832=)
 gnomAD v4 COSMIC
19g.38580442A>CCA405687811RYR1c.1520A>C
c.2917A>C
c.2889A>C
c.14584A>C (p.Lys4862Gln)
c.14569A>C (p.Lys4857Gln)
c.14566A>C (p.Lys4856Gln)
c.14551A>C (p.Lys4851Gln)
c.14581A>C (p.Lys4861Gln)
c.14497A>C (p.Lys4833Gln)
19g.38580442A>GCA405687812RYR1c.1520A>G
c.2917A>G
c.2889A>G
c.14584A>G (p.Lys4862Glu)
c.14569A>G (p.Lys4857Glu)
c.14566A>G (p.Lys4856Glu)
c.14551A>G (p.Lys4851Glu)
c.14581A>G (p.Lys4861Glu)
c.14497A>G (p.Lys4833Glu)
19g.38580442A>TCA405687815RYR1c.1520A>T
c.2917A>T
c.2889A>T
c.14584A>T (p.Lys4862Ter)
c.14569A>T (p.Lys4857Ter)
c.14566A>T (p.Lys4856Ter)
c.14551A>T (p.Lys4851Ter)
c.14581A>T (p.Lys4861Ter)
c.14497A>T (p.Lys4833Ter)
19g.38580443A=CA2335092483RYR1c.1521A=
c.2918A=
c.2890A=
c.14585A= (p.Lys4862=)
c.14570A= (p.Lys4857=)
c.14567A= (p.Lys4856=)
c.14552A= (p.Lys4851=)
c.14582A= (p.Lys4861=)
c.14498A= (p.Lys4833=)
19g.38580443A>CCA405687817RYR1c.1521A>C
c.2918A>C
c.2890A>C
c.14585A>C (p.Lys4862Thr)
c.14570A>C (p.Lys4857Thr)
c.14567A>C (p.Lys4856Thr)
c.14552A>C (p.Lys4851Thr)
c.14582A>C (p.Lys4861Thr)
c.14498A>C (p.Lys4833Thr)
 ClinVar dbSNP
19g.38580443A>GCA405687818RYR1c.1521A>G
c.2918A>G
c.2890A>G
c.14585A>G (p.Lys4862Arg)
c.14570A>G (p.Lys4857Arg)
c.14567A>G (p.Lys4856Arg)
c.14552A>G (p.Lys4851Arg)
c.14582A>G (p.Lys4861Arg)
c.14498A>G (p.Lys4833Arg)
19g.38580443A>TCA405687819RYR1c.1521A>T
c.2918A>T
c.2890A>T
c.14585A>T (p.Lys4862Met)
c.14570A>T (p.Lys4857Met)
c.14567A>T (p.Lys4856Met)
c.14552A>T (p.Lys4851Met)
c.14582A>T (p.Lys4861Met)
c.14498A>T (p.Lys4833Met)
19g.38580445_38580462delCA2695228677RYR1c.1523_1540del
c.2920_2937del
c.2892_2909del
c.14587_14604del (p.Phe4863_Glu4868del)
c.14572_14589del (p.Phe4858_Glu4863del)
c.14569_14586del (p.Phe4857_Glu4862del)
c.14554_14571del (p.Phe4852_Glu4857del)
c.14584_14601del (p.Phe4862_Glu4867del)
c.14500_14517del (p.Phe4834_Glu4839del)
19g.38580444G>ACA507356129RYR1c.1522G>A
c.2919G>A
c.2891G>A
c.14586G>A (p.Lys4862=)
c.14571G>A (p.Lys4857=)
c.14568G>A (p.Lys4856=)
c.14553G>A (p.Lys4851=)
c.14583G>A (p.Lys4861=)
c.14499G>A (p.Lys4833=)
19g.38580444G>CCA405687822RYR1c.1522G>C
c.2919G>C
c.2891G>C
c.14586G>C (p.Lys4862Asn)
c.14571G>C (p.Lys4857Asn)
c.14568G>C (p.Lys4856Asn)
c.14553G>C (p.Lys4851Asn)
c.14583G>C (p.Lys4861Asn)
c.14499G>C (p.Lys4833Asn)
19g.38580444G>TCA405687824RYR1c.1522G>T
c.2919G>T
c.2891G>T
c.14586G>T (p.Lys4862Asn)
c.14571G>T (p.Lys4857Asn)
c.14568G>T (p.Lys4856Asn)
c.14553G>T (p.Lys4851Asn)
c.14583G>T (p.Lys4861Asn)
c.14499G>T (p.Lys4833Asn)
19g.38580444_38580465delinsGTTCTACAACAAGAGCGAGGATCA2335092484RYR1c.1522_1543delinsGTTCTACAACAAGAGCGAGGAT
c.2919_2940delinsGTTCTACAACAAGAGCGAGGAT
c.2891_2912delinsGTTCTACAACAAGAGCGAGGAT
c.14586_14607delinsGTTCTACAACAAGAGCGAGGAT (p.Lys4862=)
c.14571_14592delinsGTTCTACAACAAGAGCGAGGAT (p.Lys4857=)
c.14568_14589delinsGTTCTACAACAAGAGCGAGGAT (p.Lys4856=)
c.14553_14574delinsGTTCTACAACAAGAGCGAGGAT (p.Lys4851=)
c.14583_14604delinsGTTCTACAACAAGAGCGAGGAT (p.Lys4861=)
c.14499_14520delinsGTTCTACAACAAGAGCGAGGAT (p.Lys4833=)
19g.38580445T>ACA405687833RYR1c.1523T>A
c.2920T>A
c.2892T>A
c.14587T>A (p.Phe4863Ile)
c.14572T>A (p.Phe4858Ile)
c.14569T>A (p.Phe4857Ile)
c.14554T>A (p.Phe4852Ile)
c.14584T>A (p.Phe4862Ile)
c.14500T>A (p.Phe4834Ile)
19g.38580445T>CCA405687830RYR1c.1523T>C
c.2920T>C
c.2892T>C
c.14587T>C (p.Phe4863Leu)
c.14572T>C (p.Phe4858Leu)
c.14569T>C (p.Phe4857Leu)
c.14554T>C (p.Phe4852Leu)
c.14584T>C (p.Phe4862Leu)
c.14500T>C (p.Phe4834Leu)
 ClinVar
19g.38580445T>GCA405687828RYR1c.1523T>G
c.2920T>G
c.2892T>G
c.14587T>G (p.Phe4863Val)
c.14572T>G (p.Phe4858Val)
c.14569T>G (p.Phe4857Val)
c.14554T>G (p.Phe4852Val)
c.14584T>G (p.Phe4862Val)
c.14500T>G (p.Phe4834Val)
 ClinVar dbSNP
19g.38580445_38580463delinsTTCTACAACAAGAGCGAGGCA2335092485RYR1c.1523_1541delinsTTCTACAACAAGAGCGAGG
c.2920_2938delinsTTCTACAACAAGAGCGAGG
c.2892_2910delinsTTCTACAACAAGAGCGAGG
c.14587_14605delinsTTCTACAACAAGAGCGAGG (p.Phe4863=)
c.14572_14590delinsTTCTACAACAAGAGCGAGG (p.Phe4858=)
c.14569_14587delinsTTCTACAACAAGAGCGAGG (p.Phe4857=)
c.14554_14572delinsTTCTACAACAAGAGCGAGG (p.Phe4852=)
c.14584_14602delinsTTCTACAACAAGAGCGAGG (p.Phe4862=)
c.14500_14518delinsTTCTACAACAAGAGCGAGG (p.Phe4834=)
19g.38580445_38580465delCA024189RYR1c.1523_1543del
c.2920_2940del
c.2892_2912del
c.14587_14607del (p.Phe4863_Asp4869del)
c.14572_14592del (p.Phe4858_Asp4864del)
c.14569_14589del (p.Phe4857_Asp4863del)
c.14554_14574del (p.Phe4852_Asp4858del)
c.14584_14604del (p.Phe4862_Asp4868del)
c.14500_14520del (p.Phe4834_Asp4840del)
 ClinVar dbSNP
19g.38580446T>ACA405687836RYR1c.1524T>A
c.2921T>A
c.2893T>A
c.14588T>A (p.Phe4863Tyr)
c.14573T>A (p.Phe4858Tyr)
c.14570T>A (p.Phe4857Tyr)
c.14555T>A (p.Phe4852Tyr)
c.14585T>A (p.Phe4862Tyr)
c.14501T>A (p.Phe4834Tyr)
19g.38580446T>CCA405687837RYR1c.1524T>C
c.2921T>C
c.2893T>C
c.14588T>C (p.Phe4863Ser)
c.14573T>C (p.Phe4858Ser)
c.14570T>C (p.Phe4857Ser)
c.14555T>C (p.Phe4852Ser)
c.14585T>C (p.Phe4862Ser)
c.14501T>C (p.Phe4834Ser)
19g.38580446T>GCA405687839RYR1c.1524T>G
c.2921T>G
c.2893T>G
c.14588T>G (p.Phe4863Cys)
c.14573T>G (p.Phe4858Cys)
c.14570T>G (p.Phe4857Cys)
c.14555T>G (p.Phe4852Cys)
c.14585T>G (p.Phe4862Cys)
c.14501T>G (p.Phe4834Cys)
19g.38580446_38580449delinsTCTACA2335092486RYR1c.1524_1527delinsTCTA
c.2921_2924delinsTCTA
c.2893_2896delinsTCTA
c.14588_14591delinsTCTA (p.Phe4863=)
c.14573_14576delinsTCTA (p.Phe4858=)
c.14570_14573delinsTCTA (p.Phe4857=)
c.14555_14558delinsTCTA (p.Phe4852=)
c.14585_14588delinsTCTA (p.Phe4862=)
c.14501_14504delinsTCTA (p.Phe4834=)
19g.38580446_38580463delCA024191RYR1c.1524_1541del
c.2921_2938del
c.2893_2910del
c.14588_14605del (p.Phe4863_Asp4869delinsTyr)
c.14573_14590del (p.Phe4858_Asp4864delinsTyr)
c.14570_14587del (p.Phe4857_Asp4863delinsTyr)
c.14555_14572del (p.Phe4852_Asp4858delinsTyr)
c.14585_14602del (p.Phe4862_Asp4868delinsTyr)
c.14501_14518del (p.Phe4834_Asp4840delinsTyr)
 ClinVar dbSNP
19g.38580447C>ACA405687844RYR1c.1525C>A
c.2922C>A
c.2894C>A
c.14589C>A (p.Phe4863Leu)
c.14574C>A (p.Phe4858Leu)
c.14571C>A (p.Phe4857Leu)
c.14556C>A (p.Phe4852Leu)
c.14586C>A (p.Phe4862Leu)
c.14502C>A (p.Phe4834Leu)
19g.38580447C=CA2335092487RYR1c.1525C=
c.2922C=
c.2894C=
c.14589C= (p.Phe4863=)
c.14574C= (p.Phe4858=)
c.14571C= (p.Phe4857=)
c.14556C= (p.Phe4852=)
c.14586C= (p.Phe4862=)
c.14502C= (p.Phe4834=)
19g.38580447C>GCA405687845RYR1c.1525C>G
c.2922C>G
c.2894C>G
c.14589C>G (p.Phe4863Leu)
c.14574C>G (p.Phe4858Leu)
c.14571C>G (p.Phe4857Leu)
c.14556C>G (p.Phe4852Leu)
c.14586C>G (p.Phe4862Leu)
c.14502C>G (p.Phe4834Leu)
19g.38580447C>TCA024194RYR1c.1525C>T
c.2922C>T
c.2894C>T
c.14589C>T (p.Phe4863=)
c.14574C>T (p.Phe4858=)
c.14571C>T (p.Phe4857=)
c.14556C>T (p.Phe4852=)
c.14586C>T (p.Phe4862=)
c.14502C>T (p.Phe4834=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38580448_38580450delCA1139666435RYR1c.1526_1528del
c.2923_2925del
c.2895_2897del
c.14590_14592del (p.Tyr4864del)
c.14575_14577del (p.Tyr4859del)
c.14572_14574del (p.Tyr4858del)
c.14557_14559del (p.Tyr4853del)
c.14587_14589del (p.Tyr4863del)
c.14503_14505del (p.Tyr4835del)
 ClinVar dbSNP
19g.38580448T>ACA405687848RYR1c.1526T>A
c.2923T>A
c.2895T>A
c.14590T>A (p.Tyr4864Asn)
c.14575T>A (p.Tyr4859Asn)
c.14572T>A (p.Tyr4858Asn)
c.14557T>A (p.Tyr4853Asn)
c.14587T>A (p.Tyr4863Asn)
c.14503T>A (p.Tyr4835Asn)
19g.38580448T>CCA405687849RYR1c.1526T>C
c.2923T>C
c.2895T>C
c.14590T>C (p.Tyr4864His)
c.14575T>C (p.Tyr4859His)
c.14572T>C (p.Tyr4858His)
c.14557T>C (p.Tyr4853His)
c.14587T>C (p.Tyr4863His)
c.14503T>C (p.Tyr4835His)
19g.38580448T>GCA405687851RYR1c.1526T>G
c.2923T>G
c.2895T>G
c.14590T>G (p.Tyr4864Asp)
c.14575T>G (p.Tyr4859Asp)
c.14572T>G (p.Tyr4858Asp)
c.14557T>G (p.Tyr4853Asp)
c.14587T>G (p.Tyr4863Asp)
c.14503T>G (p.Tyr4835Asp)
19g.38580449A=CA2335092488RYR1c.1527A=
c.2924A=
c.2896A=
c.14591A= (p.Tyr4864=)
c.14576A= (p.Tyr4859=)
c.14573A= (p.Tyr4858=)
c.14558A= (p.Tyr4853=)
c.14588A= (p.Tyr4863=)
c.14504A= (p.Tyr4835=)
19g.38580449A>CCA405687854RYR1c.1527A>C
c.2924A>C
c.2896A>C
c.14591A>C (p.Tyr4864Ser)
c.14576A>C (p.Tyr4859Ser)
c.14573A>C (p.Tyr4858Ser)
c.14558A>C (p.Tyr4853Ser)
c.14588A>C (p.Tyr4863Ser)
c.14504A>C (p.Tyr4835Ser)
 ClinVar dbSNP
19g.38580449A>GCA024196RYR1c.1527A>G
c.2924A>G
c.2896A>G
c.14591A>G (p.Tyr4864Cys)
c.14576A>G (p.Tyr4859Cys)
c.14573A>G (p.Tyr4858Cys)
c.14558A>G (p.Tyr4853Cys)
c.14588A>G (p.Tyr4863Cys)
c.14504A>G (p.Tyr4835Cys)
 ClinVar dbSNP
19g.38580449A>TCA405687856RYR1c.1527A>T
c.2924A>T
c.2896A>T
c.14591A>T (p.Tyr4864Phe)
c.14576A>T (p.Tyr4859Phe)
c.14573A>T (p.Tyr4858Phe)
c.14558A>T (p.Tyr4853Phe)
c.14588A>T (p.Tyr4863Phe)
c.14504A>T (p.Tyr4835Phe)
19g.38580453_38580455delCA2576827526RYR1c.1531_1533del
c.2928_2930del
c.2900_2902del
c.14595_14597del (p.Asn4865del)
c.14580_14582del (p.Asn4860del)
c.14577_14579del (p.Asn4859del)
c.14562_14564del (p.Asn4854del)
c.14592_14594del (p.Asn4864del)
c.14508_14510del (p.Asn4836del)
 ClinVar dbSNP
19g.38580450C>ACA405687858RYR1c.1528C>A
c.2925C>A
c.2897C>A
c.14592C>A (p.Tyr4864Ter)
c.14577C>A (p.Tyr4859Ter)
c.14574C>A (p.Tyr4858Ter)
c.14559C>A (p.Tyr4853Ter)
c.14589C>A (p.Tyr4863Ter)
c.14505C>A (p.Tyr4835Ter)
19g.38580450C=CA2335092489RYR1c.1528C=
c.2925C=
c.2897C=
c.14592C= (p.Tyr4864=)
c.14577C= (p.Tyr4859=)
c.14574C= (p.Tyr4858=)
c.14559C= (p.Tyr4853=)
c.14589C= (p.Tyr4863=)
c.14505C= (p.Tyr4835=)
19g.38580450C>GCA405687859RYR1c.1528C>G
c.2925C>G
c.2897C>G
c.14592C>G (p.Tyr4864Ter)
c.14577C>G (p.Tyr4859Ter)
c.14574C>G (p.Tyr4858Ter)
c.14559C>G (p.Tyr4853Ter)
c.14589C>G (p.Tyr4863Ter)
c.14505C>G (p.Tyr4835Ter)
19g.38580450C>TCA061408RYR1c.1528C>T
c.2925C>T
c.2897C>T
c.14592C>T (p.Tyr4864=)
c.14577C>T (p.Tyr4859=)
c.14574C>T (p.Tyr4858=)
c.14559C>T (p.Tyr4853=)
c.14589C>T (p.Tyr4863=)
c.14505C>T (p.Tyr4835=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38580451A=CA2335092490RYR1c.1529A=
c.2926A=
c.2898A=
c.14593A= (p.Asn4865=)
c.14578A= (p.Asn4860=)
c.14575A= (p.Asn4859=)
c.14560A= (p.Asn4854=)
c.14590A= (p.Asn4864=)
c.14506A= (p.Asn4836=)
19g.38580451A>CCA405687862RYR1c.1529A>C
c.2926A>C
c.2898A>C
c.14593A>C (p.Asn4865His)
c.14578A>C (p.Asn4860His)
c.14575A>C (p.Asn4859His)
c.14560A>C (p.Asn4854His)
c.14590A>C (p.Asn4864His)
c.14506A>C (p.Asn4836His)
19g.38580451A>GCA061412RYR1c.1529A>G
c.2926A>G
c.2898A>G
c.14593A>G (p.Asn4865Asp)
c.14578A>G (p.Asn4860Asp)
c.14575A>G (p.Asn4859Asp)
c.14560A>G (p.Asn4854Asp)
c.14590A>G (p.Asn4864Asp)
c.14506A>G (p.Asn4836Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38580451A>TCA405687865RYR1c.1529A>T
c.2926A>T
c.2898A>T
c.14593A>T (p.Asn4865Tyr)
c.14578A>T (p.Asn4860Tyr)
c.14575A>T (p.Asn4859Tyr)
c.14560A>T (p.Asn4854Tyr)
c.14590A>T (p.Asn4864Tyr)
c.14506A>T (p.Asn4836Tyr)
19g.38580452A=CA2335092491RYR1c.1530A=
c.2927A=
c.2899A=
c.14594A= (p.Asn4865=)
c.14579A= (p.Asn4860=)
c.14576A= (p.Asn4859=)
c.14561A= (p.Asn4854=)
c.14591A= (p.Asn4864=)
c.14507A= (p.Asn4836=)
19g.38580452A>CCA405687868RYR1c.1530A>C
c.2927A>C
c.2899A>C
c.14594A>C (p.Asn4865Thr)
c.14579A>C (p.Asn4860Thr)
c.14576A>C (p.Asn4859Thr)
c.14561A>C (p.Asn4854Thr)
c.14591A>C (p.Asn4864Thr)
c.14507A>C (p.Asn4836Thr)
19g.38580452A>GCA405687870RYR1c.1530A>G
c.2927A>G
c.2899A>G
c.14594A>G (p.Asn4865Ser)
c.14579A>G (p.Asn4860Ser)
c.14576A>G (p.Asn4859Ser)
c.14561A>G (p.Asn4854Ser)
c.14591A>G (p.Asn4864Ser)
c.14507A>G (p.Asn4836Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38580452A>TCA405687872RYR1c.1530A>T
c.2927A>T
c.2899A>T
c.14594A>T (p.Asn4865Ile)
c.14579A>T (p.Asn4860Ile)
c.14576A>T (p.Asn4859Ile)
c.14561A>T (p.Asn4854Ile)
c.14591A>T (p.Asn4864Ile)
c.14507A>T (p.Asn4836Ile)
19g.38580453C>ACA405687874RYR1c.1531C>A
c.2928C>A
c.2900C>A
c.14595C>A (p.Asn4865Lys)
c.14580C>A (p.Asn4860Lys)
c.14577C>A (p.Asn4859Lys)
c.14562C>A (p.Asn4854Lys)
c.14592C>A (p.Asn4864Lys)
c.14508C>A (p.Asn4836Lys)
19g.38580453C=CA2335092492RYR1c.1531C=
c.2928C=
c.2900C=
c.14595C= (p.Asn4865=)
c.14580C= (p.Asn4860=)
c.14577C= (p.Asn4859=)
c.14562C= (p.Asn4854=)
c.14592C= (p.Asn4864=)
c.14508C= (p.Asn4836=)
19g.38580453C>GCA405687875RYR1c.1531C>G
c.2928C>G
c.2900C>G
c.14595C>G (p.Asn4865Lys)
c.14580C>G (p.Asn4860Lys)
c.14577C>G (p.Asn4859Lys)
c.14562C>G (p.Asn4854Lys)
c.14592C>G (p.Asn4864Lys)
c.14508C>G (p.Asn4836Lys)
 gnomAD v4
19g.38580453C>TCA081264RYR1c.1531C>T
c.2928C>T
c.2900C>T
c.14595C>T (p.Asn4865=)
c.14580C>T (p.Asn4860=)
c.14577C>T (p.Asn4859=)
c.14562C>T (p.Asn4854=)
c.14592C>T (p.Asn4864=)
c.14508C>T (p.Asn4836=)
 dbSNP gnomAD v2
19g.38580454A>CCA405687876RYR1c.1532A>C
c.2929A>C
c.2901A>C
c.14596A>C (p.Lys4866Gln)
c.14581A>C (p.Lys4861Gln)
c.14578A>C (p.Lys4860Gln)
c.14563A>C (p.Lys4855Gln)
c.14593A>C (p.Lys4865Gln)
c.14509A>C (p.Lys4837Gln)
19g.38580454A>GCA081265RYR1c.1532A>G
c.2929A>G
c.2901A>G
c.14596A>G (p.Lys4866Glu)
c.14581A>G (p.Lys4861Glu)
c.14578A>G (p.Lys4860Glu)
c.14563A>G (p.Lys4855Glu)
c.14593A>G (p.Lys4865Glu)
c.14509A>G (p.Lys4837Glu)
 ClinVar
19g.38580454A>TCA405687877RYR1c.1532A>T
c.2929A>T
c.2901A>T
c.14596A>T (p.Lys4866Ter)
c.14581A>T (p.Lys4861Ter)
c.14578A>T (p.Lys4860Ter)
c.14563A>T (p.Lys4855Ter)
c.14593A>T (p.Lys4865Ter)
c.14509A>T (p.Lys4837Ter)
19g.38580454_38580455delCA2584911261RYR1c.1532_1533del
c.2929_2930del
c.2901_2902del
c.14596_14597del (p.Lys4866GlufsTer4)
c.14581_14582del (p.Lys4861GlufsTer4)
c.14578_14579del (p.Lys4860GlufsTer4)
c.14563_14564del (p.Lys4855GlufsTer4)
c.14593_14594del (p.Lys4865GlufsTer4)
c.14509_14510del (p.Lys4837GlufsTer4)
 gnomAD v4
19g.38580455A>CCA405687880RYR1c.1533A>C
c.2930A>C
c.2902A>C
c.14597A>C (p.Lys4866Thr)
c.14582A>C (p.Lys4861Thr)
c.14579A>C (p.Lys4860Thr)
c.14564A>C (p.Lys4855Thr)
c.14594A>C (p.Lys4865Thr)
c.14510A>C (p.Lys4837Thr)
 gnomAD v4
19g.38580455A>GCA405687879RYR1c.1533A>G
c.2930A>G
c.2902A>G
c.14597A>G (p.Lys4866Arg)
c.14582A>G (p.Lys4861Arg)
c.14579A>G (p.Lys4860Arg)
c.14564A>G (p.Lys4855Arg)
c.14594A>G (p.Lys4865Arg)
c.14510A>G (p.Lys4837Arg)
19g.38580455A>TCA405687878RYR1c.1533A>T
c.2930A>T
c.2902A>T
c.14597A>T (p.Lys4866Met)
c.14582A>T (p.Lys4861Met)
c.14579A>T (p.Lys4860Met)
c.14564A>T (p.Lys4855Met)
c.14594A>T (p.Lys4865Met)
c.14510A>T (p.Lys4837Met)
19g.38580456delCA2736064207RYR1c.1534del
c.2931del
c.2903del
c.14598del (p.Ser4867AlafsTer9)
c.14583del (p.Ser4862AlafsTer9)
c.14580del (p.Ser4861AlafsTer9)
c.14565del (p.Ser4856AlafsTer9)
c.14595del (p.Ser4866AlafsTer9)
c.14511del (p.Ser4838AlafsTer9)
 dbSNP
19g.38580456G>ACA507356131RYR1c.1534G>A
c.2931G>A
c.2903G>A
c.14598G>A (p.Lys4866=)
c.14583G>A (p.Lys4861=)
c.14580G>A (p.Lys4860=)
c.14565G>A (p.Lys4855=)
c.14595G>A (p.Lys4865=)
c.14511G>A (p.Lys4837=)
 gnomAD v4
19g.38580456G>CCA405687881RYR1c.1534G>C
c.2931G>C
c.2903G>C
c.14598G>C (p.Lys4866Asn)
c.14583G>C (p.Lys4861Asn)
c.14580G>C (p.Lys4860Asn)
c.14565G>C (p.Lys4855Asn)
c.14595G>C (p.Lys4865Asn)
c.14511G>C (p.Lys4837Asn)
 ClinVar dbSNP gnomAD v4
19g.38580456G=CA2335092493RYR1c.1534G=
c.2931G=
c.2903G=
c.14598G= (p.Lys4866=)
c.14583G= (p.Lys4861=)
c.14580G= (p.Lys4860=)
c.14565G= (p.Lys4855=)
c.14595G= (p.Lys4865=)
c.14511G= (p.Lys4837=)
19g.38580456G>TCA405687882RYR1c.1534G>T
c.2931G>T
c.2903G>T
c.14598G>T (p.Lys4866Asn)
c.14583G>T (p.Lys4861Asn)
c.14580G>T (p.Lys4860Asn)
c.14565G>T (p.Lys4855Asn)
c.14595G>T (p.Lys4865Asn)
c.14511G>T (p.Lys4837Asn)
19g.38580457A=CA2335092494RYR1c.1535A=
c.2932A=
c.2904A=
c.14599A= (p.Ser4867=)
c.14584A= (p.Ser4862=)
c.14581A= (p.Ser4861=)
c.14566A= (p.Ser4856=)
c.14596A= (p.Ser4866=)
c.14512A= (p.Ser4838=)
19g.38580457A>CCA405687884RYR1c.1535A>C
c.2932A>C
c.2904A>C
c.14599A>C (p.Ser4867Arg)
c.14584A>C (p.Ser4862Arg)
c.14581A>C (p.Ser4861Arg)
c.14566A>C (p.Ser4856Arg)
c.14596A>C (p.Ser4866Arg)
c.14512A>C (p.Ser4838Arg)
19g.38580457A>GCA405687889RYR1c.1535A>G
c.2932A>G
c.2904A>G
c.14599A>G (p.Ser4867Gly)
c.14584A>G (p.Ser4862Gly)
c.14581A>G (p.Ser4861Gly)
c.14566A>G (p.Ser4856Gly)
c.14596A>G (p.Ser4866Gly)
c.14512A>G (p.Ser4838Gly)
 ClinVar gnomAD v4
19g.38580457A>TCA061413RYR1c.1535A>T
c.2932A>T
c.2904A>T
c.14599A>T (p.Ser4867Cys)
c.14584A>T (p.Ser4862Cys)
c.14581A>T (p.Ser4861Cys)
c.14566A>T (p.Ser4856Cys)
c.14596A>T (p.Ser4866Cys)
c.14512A>T (p.Ser4838Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38580458G>ACA024198RYR1c.1536G>A
c.2933G>A
c.2905G>A
c.14600G>A (p.Ser4867Asn)
c.14585G>A (p.Ser4862Asn)
c.14582G>A (p.Ser4861Asn)
c.14567G>A (p.Ser4856Asn)
c.14597G>A (p.Ser4866Asn)
c.14513G>A (p.Ser4838Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38580458G>CCA405687894RYR1c.1536G>C
c.2933G>C
c.2905G>C
c.14600G>C (p.Ser4867Thr)
c.14585G>C (p.Ser4862Thr)
c.14582G>C (p.Ser4861Thr)
c.14567G>C (p.Ser4856Thr)
c.14597G>C (p.Ser4866Thr)
c.14513G>C (p.Ser4838Thr)
19g.38580458G=CA2335092495RYR1c.1536G=
c.2933G=
c.2905G=
c.14600G= (p.Ser4867=)
c.14585G= (p.Ser4862=)
c.14582G= (p.Ser4861=)
c.14567G= (p.Ser4856=)
c.14597G= (p.Ser4866=)
c.14513G= (p.Ser4838=)
19g.38580458G>TCA405687896RYR1c.1536G>T
c.2933G>T
c.2905G>T
c.14600G>T (p.Ser4867Ile)
c.14585G>T (p.Ser4862Ile)
c.14582G>T (p.Ser4861Ile)
c.14567G>T (p.Ser4856Ile)
c.14597G>T (p.Ser4866Ile)
c.14513G>T (p.Ser4838Ile)
19g.38580459C>ACA405687898RYR1c.1537C>A
c.2934C>A
c.2906C>A
c.14601C>A (p.Ser4867Arg)
c.14586C>A (p.Ser4862Arg)
c.14583C>A (p.Ser4861Arg)
c.14568C>A (p.Ser4856Arg)
c.14598C>A (p.Ser4866Arg)
c.14514C>A (p.Ser4838Arg)
19g.38580459C=CA2335092496RYR1c.1537C=
c.2934C=
c.2906C=
c.14601C= (p.Ser4867=)
c.14586C= (p.Ser4862=)
c.14583C= (p.Ser4861=)
c.14568C= (p.Ser4856=)
c.14598C= (p.Ser4866=)
c.14514C= (p.Ser4838=)
19g.38580459C>GCA405687900RYR1c.1537C>G
c.2934C>G
c.2906C>G
c.14601C>G (p.Ser4867Arg)
c.14586C>G (p.Ser4862Arg)
c.14583C>G (p.Ser4861Arg)
c.14568C>G (p.Ser4856Arg)
c.14598C>G (p.Ser4866Arg)
c.14514C>G (p.Ser4838Arg)
19g.38580459C>TCA061419RYR1c.1537C>T
c.2934C>T
c.2906C>T
c.14601C>T (p.Ser4867=)
c.14586C>T (p.Ser4862=)
c.14583C>T (p.Ser4861=)
c.14568C>T (p.Ser4856=)
c.14598C>T (p.Ser4866=)
c.14514C>T (p.Ser4838=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38580460G>ACA061423RYR1c.1538G>A
c.2935G>A
c.2907G>A
c.14602G>A (p.Glu4868Lys)
c.14587G>A (p.Glu4863Lys)
c.14584G>A (p.Glu4862Lys)
c.14569G>A (p.Glu4857Lys)
c.14599G>A (p.Glu4867Lys)
c.14515G>A (p.Glu4839Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38580460G>CCA405687906RYR1c.1538G>C
c.2935G>C
c.2907G>C
c.14602G>C (p.Glu4868Gln)
c.14587G>C (p.Glu4863Gln)
c.14584G>C (p.Glu4862Gln)
c.14569G>C (p.Glu4857Gln)
c.14599G>C (p.Glu4867Gln)
c.14515G>C (p.Glu4839Gln)
19g.38580460G=CA2335092497RYR1c.1538G=
c.2935G=
c.2907G=
c.14602G= (p.Glu4868=)
c.14587G= (p.Glu4863=)
c.14584G= (p.Glu4862=)
c.14569G= (p.Glu4857=)
c.14599G= (p.Glu4867=)
c.14515G= (p.Glu4839=)
19g.38580460G>TCA405687904RYR1c.1538G>T
c.2935G>T
c.2907G>T
c.14602G>T (p.Glu4868Ter)
c.14587G>T (p.Glu4863Ter)
c.14584G>T (p.Glu4862Ter)
c.14569G>T (p.Glu4857Ter)
c.14599G>T (p.Glu4867Ter)
c.14515G>T (p.Glu4839Ter)
19g.38580461A>CCA405687910RYR1c.1539A>C
c.2936A>C
c.2908A>C
c.14603A>C (p.Glu4868Ala)
c.14588A>C (p.Glu4863Ala)
c.14585A>C (p.Glu4862Ala)
c.14570A>C (p.Glu4857Ala)
c.14600A>C (p.Glu4867Ala)
c.14516A>C (p.Glu4839Ala)
19g.38580461A>GCA405687913RYR1c.1539A>G
c.2936A>G
c.2908A>G
c.14603A>G (p.Glu4868Gly)
c.14588A>G (p.Glu4863Gly)
c.14585A>G (p.Glu4862Gly)
c.14570A>G (p.Glu4857Gly)
c.14600A>G (p.Glu4867Gly)
c.14516A>G (p.Glu4839Gly)
19g.38580461A>TCA405687912RYR1c.1539A>T
c.2936A>T
c.2908A>T
c.14603A>T (p.Glu4868Val)
c.14588A>T (p.Glu4863Val)
c.14585A>T (p.Glu4862Val)
c.14570A>T (p.Glu4857Val)
c.14600A>T (p.Glu4867Val)
c.14516A>T (p.Glu4839Val)
19g.38580462G>ACA507356137RYR1c.1540G>A
c.2937G>A
c.2909G>A
c.14604G>A (p.Glu4868=)
c.14589G>A (p.Glu4863=)
c.14586G>A (p.Glu4862=)
c.14571G>A (p.Glu4857=)
c.14601G>A (p.Glu4867=)
c.14517G>A (p.Glu4839=)
 COSMIC
19g.38580462G>CCA405687916RYR1c.1540G>C
c.2937G>C
c.2909G>C
c.14604G>C (p.Glu4868Asp)
c.14589G>C (p.Glu4863Asp)
c.14586G>C (p.Glu4862Asp)
c.14571G>C (p.Glu4857Asp)
c.14601G>C (p.Glu4867Asp)
c.14517G>C (p.Glu4839Asp)
19g.38580462G>TCA405687917RYR1c.1540G>T
c.2937G>T
c.2909G>T
c.14604G>T (p.Glu4868Asp)
c.14589G>T (p.Glu4863Asp)
c.14586G>T (p.Glu4862Asp)
c.14571G>T (p.Glu4857Asp)
c.14601G>T (p.Glu4867Asp)
c.14517G>T (p.Glu4839Asp)
19g.38580463G>ACA081268RYR1c.1541G>A
c.2938G>A
c.2910G>A
c.14605G>A (p.Asp4869Asn)
c.14590G>A (p.Asp4864Asn)
c.14587G>A (p.Asp4863Asn)
c.14572G>A (p.Asp4858Asn)
c.14602G>A (p.Asp4868Asn)
c.14518G>A (p.Asp4840Asn)
19g.38580463G>CCA405687921RYR1c.1541G>C
c.2938G>C
c.2910G>C
c.14605G>C (p.Asp4869His)
c.14590G>C (p.Asp4864His)
c.14587G>C (p.Asp4863His)
c.14572G>C (p.Asp4858His)
c.14602G>C (p.Asp4868His)
c.14518G>C (p.Asp4840His)
19g.38580463G>TCA405687923RYR1c.1541G>T
c.2938G>T
c.2910G>T
c.14605G>T (p.Asp4869Tyr)
c.14590G>T (p.Asp4864Tyr)
c.14587G>T (p.Asp4863Tyr)
c.14572G>T (p.Asp4858Tyr)
c.14602G>T (p.Asp4868Tyr)
c.14518G>T (p.Asp4840Tyr)
19g.38580464A=CA2335092498RYR1c.1542A=
c.2939A=
c.2911A=
c.14606A= (p.Asp4869=)
c.14591A= (p.Asp4864=)
c.14588A= (p.Asp4863=)
c.14573A= (p.Asp4858=)
c.14603A= (p.Asp4868=)
c.14519A= (p.Asp4840=)
19g.38580464A>CCA061427RYR1c.1542A>C
c.2939A>C
c.2911A>C
c.14606A>C (p.Asp4869Ala)
c.14591A>C (p.Asp4864Ala)
c.14588A>C (p.Asp4863Ala)
c.14573A>C (p.Asp4858Ala)
c.14603A>C (p.Asp4868Ala)
c.14519A>C (p.Asp4840Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38580464A>GCA405687928RYR1c.1542A>G
c.2939A>G
c.2911A>G
c.14606A>G (p.Asp4869Gly)
c.14591A>G (p.Asp4864Gly)
c.14588A>G (p.Asp4863Gly)
c.14573A>G (p.Asp4858Gly)
c.14603A>G (p.Asp4868Gly)
c.14519A>G (p.Asp4840Gly)
19g.38580464A>TCA405687930RYR1c.1542A>T
c.2939A>T
c.2911A>T
c.14606A>T (p.Asp4869Val)
c.14591A>T (p.Asp4864Val)
c.14588A>T (p.Asp4863Val)
c.14573A>T (p.Asp4858Val)
c.14603A>T (p.Asp4868Val)
c.14519A>T (p.Asp4840Val)
19g.38580465T>ACA405687931RYR1c.1543T>A
c.2940T>A
c.2912T>A
c.14607T>A (p.Asp4869Glu)
c.14592T>A (p.Asp4864Glu)
c.14589T>A (p.Asp4863Glu)
c.14574T>A (p.Asp4858Glu)
c.14604T>A (p.Asp4868Glu)
c.14520T>A (p.Asp4840Glu)
19g.38580465T>CCA507356139RYR1c.1543T>C
c.2940T>C
c.2912T>C
c.14607T>C (p.Asp4869=)
c.14592T>C (p.Asp4864=)
c.14589T>C (p.Asp4863=)
c.14574T>C (p.Asp4858=)
c.14604T>C (p.Asp4868=)
c.14520T>C (p.Asp4840=)
19g.38580465T>GCA405687933RYR1c.1543T>G
c.2940T>G
c.2912T>G
c.14607T>G (p.Asp4869Glu)
c.14592T>G (p.Asp4864Glu)
c.14589T>G (p.Asp4863Glu)
c.14574T>G (p.Asp4858Glu)
c.14604T>G (p.Asp4868Glu)
c.14520T>G (p.Asp4840Glu)
19g.38580466G>ACA405687936RYR1c.1544G>A
c.2941G>A
c.2913G>A
c.14608G>A (p.Glu4870Lys)
c.14593G>A (p.Glu4865Lys)
c.14590G>A (p.Glu4864Lys)
c.14575G>A (p.Glu4859Lys)
c.14605G>A (p.Glu4869Lys)
c.14521G>A (p.Glu4841Lys)
19g.38580466G>CCA405687937RYR1c.1544G>C
c.2941G>C
c.2913G>C
c.14608G>C (p.Glu4870Gln)
c.14593G>C (p.Glu4865Gln)
c.14590G>C (p.Glu4864Gln)
c.14575G>C (p.Glu4859Gln)
c.14605G>C (p.Glu4869Gln)
c.14521G>C (p.Glu4841Gln)
19g.38580466G>TCA405687940RYR1c.1544G>T
c.2941G>T
c.2913G>T
c.14608G>T (p.Glu4870Ter)
c.14593G>T (p.Glu4865Ter)
c.14590G>T (p.Glu4864Ter)
c.14575G>T (p.Glu4859Ter)
c.14605G>T (p.Glu4869Ter)
c.14521G>T (p.Glu4841Ter)
19g.38580467A=CA2335092499RYR1c.1545A=
c.2942A=
c.2914A=
c.14609A= (p.Glu4870=)
c.14594A= (p.Glu4865=)
c.14591A= (p.Glu4864=)
c.14576A= (p.Glu4859=)
c.14606A= (p.Glu4869=)
c.14522A= (p.Glu4841=)
19g.38580467A>CCA081269RYR1c.1545A>C
c.2942A>C
c.2914A>C
c.14609A>C (p.Glu4870Ala)
c.14594A>C (p.Glu4865Ala)
c.14591A>C (p.Glu4864Ala)
c.14576A>C (p.Glu4859Ala)
c.14606A>C (p.Glu4869Ala)
c.14522A>C (p.Glu4841Ala)
 dbSNP
19g.38580467A>GCA405687944RYR1c.1545A>G
c.2942A>G
c.2914A>G
c.14609A>G (p.Glu4870Gly)
c.14594A>G (p.Glu4865Gly)
c.14591A>G (p.Glu4864Gly)
c.14576A>G (p.Glu4859Gly)
c.14606A>G (p.Glu4869Gly)
c.14522A>G (p.Glu4841Gly)
19g.38580467A>TCA405687941RYR1c.1545A>T
c.2942A>T
c.2914A>T
c.14609A>T (p.Glu4870Val)
c.14594A>T (p.Glu4865Val)
c.14591A>T (p.Glu4864Val)
c.14576A>T (p.Glu4859Val)
c.14606A>T (p.Glu4869Val)
c.14522A>T (p.Glu4841Val)
19g.38580468G>ACA507356141RYR1c.1546G>A
c.2943G>A
c.2915G>A
c.14610G>A (p.Glu4870=)
c.14595G>A (p.Glu4865=)
c.14592G>A (p.Glu4864=)
c.14577G>A (p.Glu4859=)
c.14607G>A (p.Glu4869=)
c.14523G>A (p.Glu4841=)
 ClinVar dbSNP gnomAD v4
19g.38580468G>CCA405687946RYR1c.1546G>C
c.2943G>C
c.2915G>C
c.14610G>C (p.Glu4870Asp)
c.14595G>C (p.Glu4865Asp)
c.14592G>C (p.Glu4864Asp)
c.14577G>C (p.Glu4859Asp)
c.14607G>C (p.Glu4869Asp)
c.14523G>C (p.Glu4841Asp)
19g.38580468G=CA2335092500RYR1c.1546G=
c.2943G=
c.2915G=
c.14610G= (p.Glu4870=)
c.14595G= (p.Glu4865=)
c.14592G= (p.Glu4864=)
c.14577G= (p.Glu4859=)
c.14607G= (p.Glu4869=)
c.14523G= (p.Glu4841=)
19g.38580468G>TCA405687947RYR1c.1546G>T
c.2943G>T
c.2915G>T
c.14610G>T (p.Glu4870Asp)
c.14595G>T (p.Glu4865Asp)
c.14592G>T (p.Glu4864Asp)
c.14577G>T (p.Glu4859Asp)
c.14607G>T (p.Glu4869Asp)
c.14523G>T (p.Glu4841Asp)
19g.38580469G>ACA405687948RYR1c.1547G>A
c.2944G>A
c.2916G>A
c.14611G>A (p.Asp4871Asn)
c.14596G>A (p.Asp4866Asn)
c.14593G>A (p.Asp4865Asn)
c.14578G>A (p.Asp4860Asn)
c.14608G>A (p.Asp4870Asn)
c.14524G>A (p.Asp4842Asn)
19g.38580469G>CCA405687949RYR1c.1547G>C
c.2944G>C
c.2916G>C
c.14611G>C (p.Asp4871His)
c.14596G>C (p.Asp4866His)
c.14593G>C (p.Asp4865His)
c.14578G>C (p.Asp4860His)
c.14608G>C (p.Asp4870His)
c.14524G>C (p.Asp4842His)
19g.38580469G>TCA405687950RYR1c.1547G>T
c.2944G>T
c.2916G>T
c.14611G>T (p.Asp4871Tyr)
c.14596G>T (p.Asp4866Tyr)
c.14593G>T (p.Asp4865Tyr)
c.14578G>T (p.Asp4860Tyr)
c.14608G>T (p.Asp4870Tyr)
c.14524G>T (p.Asp4842Tyr)
19g.38580470A=CA2335092501RYR1c.1548A=
c.2945A=
c.2917A=
c.14612A= (p.Asp4871=)
c.14597A= (p.Asp4866=)
c.14594A= (p.Asp4865=)
c.14579A= (p.Asp4860=)
c.14609A= (p.Asp4870=)
c.14525A= (p.Asp4842=)
19g.38580470A>CCA405687951RYR1c.1548A>C
c.2945A>C
c.2917A>C
c.14612A>C (p.Asp4871Ala)
c.14597A>C (p.Asp4866Ala)
c.14594A>C (p.Asp4865Ala)
c.14579A>C (p.Asp4860Ala)
c.14609A>C (p.Asp4870Ala)
c.14525A>C (p.Asp4842Ala)
19g.38580470A>GCA405687952RYR1c.1548A>G
c.2945A>G
c.2917A>G
c.14612A>G (p.Asp4871Gly)
c.14597A>G (p.Asp4866Gly)
c.14594A>G (p.Asp4865Gly)
c.14579A>G (p.Asp4860Gly)
c.14609A>G (p.Asp4870Gly)
c.14525A>G (p.Asp4842Gly)
19g.38580470A>TCA405687954RYR1c.1548A>T
c.2945A>T
c.2917A>T
c.14612A>T (p.Asp4871Val)
c.14597A>T (p.Asp4866Val)
c.14594A>T (p.Asp4865Val)
c.14579A>T (p.Asp4860Val)
c.14609A>T (p.Asp4870Val)
c.14525A>T (p.Asp4842Val)
 dbSNP gnomAD v2 gnomAD v4
19g.38580471T>ACA405687957RYR1c.1549T>A
c.2946T>A
c.2918T>A
c.14613T>A (p.Asp4871Glu)
c.14598T>A (p.Asp4866Glu)
c.14595T>A (p.Asp4865Glu)
c.14580T>A (p.Asp4860Glu)
c.14610T>A (p.Asp4870Glu)
c.14526T>A (p.Asp4842Glu)
19g.38580471T>CCA507356147RYR1c.1549T>C
c.2946T>C
c.2918T>C
c.14613T>C (p.Asp4871=)
c.14598T>C (p.Asp4866=)
c.14595T>C (p.Asp4865=)
c.14580T>C (p.Asp4860=)
c.14610T>C (p.Asp4870=)
c.14526T>C (p.Asp4842=)
19g.38580471T>GCA405687959RYR1c.1549T>G
c.2946T>G
c.2918T>G
c.14613T>G (p.Asp4871Glu)
c.14598T>G (p.Asp4866Glu)
c.14595T>G (p.Asp4865Glu)
c.14580T>G (p.Asp4860Glu)
c.14610T>G (p.Asp4870Glu)
c.14526T>G (p.Asp4842Glu)
19g.38580474_38580479dupCA16620841RYR1c.1552_1557dup
c.2949_2954dup
c.2921_2926dup
c.14616_14621dup (p.Pro4873_Asp4874insGluPro)
c.14601_14606dup (p.Pro4868_Asp4869insGluPro)
c.14598_14603dup (p.Pro4867_Asp4868insGluPro)
c.14583_14588dup (p.Pro4862_Asp4863insGluPro)
c.14613_14618dup (p.Pro4872_Asp4873insGluPro)
c.14529_14534dup (p.Pro4844_Asp4845insGluPro)
 ClinVar dbSNP
19g.38580472G>ACA405687962RYR1c.1550G>A
c.2947G>A
c.2919G>A
c.14614G>A (p.Glu4872Lys)
c.14599G>A (p.Glu4867Lys)
c.14596G>A (p.Glu4866Lys)
c.14581G>A (p.Glu4861Lys)
c.14611G>A (p.Glu4871Lys)
c.14527G>A (p.Glu4843Lys)
19g.38580472G>CCA405687965RYR1c.1550G>C
c.2947G>C
c.2919G>C
c.14614G>C (p.Glu4872Gln)
c.14599G>C (p.Glu4867Gln)
c.14596G>C (p.Glu4866Gln)
c.14581G>C (p.Glu4861Gln)
c.14611G>C (p.Glu4871Gln)
c.14527G>C (p.Glu4843Gln)
19g.38580472G>TCA405687966RYR1c.1550G>T
c.2947G>T
c.2919G>T
c.14614G>T (p.Glu4872Ter)
c.14599G>T (p.Glu4867Ter)
c.14596G>T (p.Glu4866Ter)
c.14581G>T (p.Glu4861Ter)
c.14611G>T (p.Glu4871Ter)
c.14527G>T (p.Glu4843Ter)
19g.38580472dupCA2584911298RYR1c.1550dup
c.2947dup
c.2919dup
c.14614dup (p.Glu4872GlyfsTer3)
c.14599dup (p.Glu4867GlyfsTer3)
c.14596dup (p.Glu4866GlyfsTer3)
c.14581dup (p.Glu4861GlyfsTer3)
c.14611dup (p.Glu4871GlyfsTer3)
c.14527dup (p.Glu4843GlyfsTer3)
 gnomAD v4
19g.38580473A>CCA405687973RYR1c.1551A>C
c.2948A>C
c.2920A>C
c.14615A>C (p.Glu4872Ala)
c.14600A>C (p.Glu4867Ala)
c.14597A>C (p.Glu4866Ala)
c.14582A>C (p.Glu4861Ala)
c.14612A>C (p.Glu4871Ala)
c.14528A>C (p.Glu4843Ala)
19g.38580473A>GCA405687977RYR1c.1551A>G
c.2948A>G
c.2920A>G
c.14615A>G (p.Glu4872Gly)
c.14600A>G (p.Glu4867Gly)
c.14597A>G (p.Glu4866Gly)
c.14582A>G (p.Glu4861Gly)
c.14612A>G (p.Glu4871Gly)
c.14528A>G (p.Glu4843Gly)
19g.38580473A>TCA405687969RYR1c.1551A>T
c.2948A>T
c.2920A>T
c.14615A>T (p.Glu4872Val)
c.14600A>T (p.Glu4867Val)
c.14597A>T (p.Glu4866Val)
c.14582A>T (p.Glu4861Val)
c.14612A>T (p.Glu4871Val)
c.14528A>T (p.Glu4843Val)
19g.38580474A>CCA405687978RYR1c.1552A>C
c.2949A>C
c.2921A>C
c.14616A>C (p.Glu4872Asp)
c.14601A>C (p.Glu4867Asp)
c.14598A>C (p.Glu4866Asp)
c.14583A>C (p.Glu4861Asp)
c.14613A>C (p.Glu4871Asp)
c.14529A>C (p.Glu4843Asp)
19g.38580474A>GCA507356149RYR1c.1552A>G
c.2949A>G
c.2921A>G
c.14616A>G (p.Glu4872=)
c.14601A>G (p.Glu4867=)
c.14598A>G (p.Glu4866=)
c.14583A>G (p.Glu4861=)
c.14613A>G (p.Glu4871=)
c.14529A>G (p.Glu4843=)
19g.38580474A>TCA405687980RYR1c.1552A>T
c.2949A>T
c.2921A>T
c.14616A>T (p.Glu4872Asp)
c.14601A>T (p.Glu4867Asp)
c.14598A>T (p.Glu4866Asp)
c.14583A>T (p.Glu4861Asp)
c.14613A>T (p.Glu4871Asp)
c.14529A>T (p.Glu4843Asp)
19g.38580475C>ACA405687984RYR1c.1553C>A
c.2950C>A
c.2922C>A
c.14617C>A (p.Pro4873Thr)
c.14602C>A (p.Pro4868Thr)
c.14599C>A (p.Pro4867Thr)
c.14584C>A (p.Pro4862Thr)
c.14614C>A (p.Pro4872Thr)
c.14530C>A (p.Pro4844Thr)
19g.38580475C=CA2335092502RYR1c.1553C=
c.2950C=
c.2922C=
c.14617C= (p.Pro4873=)
c.14602C= (p.Pro4868=)
c.14599C= (p.Pro4867=)
c.14584C= (p.Pro4862=)
c.14614C= (p.Pro4872=)
c.14530C= (p.Pro4844=)
19g.38580475C>GCA405687991RYR1c.1553C>G
c.2950C>G
c.2922C>G
c.14617C>G (p.Pro4873Ala)
c.14602C>G (p.Pro4868Ala)
c.14599C>G (p.Pro4867Ala)
c.14584C>G (p.Pro4862Ala)
c.14614C>G (p.Pro4872Ala)
c.14530C>G (p.Pro4844Ala)
19g.38580475C>TCA405687992RYR1c.1553C>T
c.2950C>T
c.2922C>T
c.14617C>T (p.Pro4873Ser)
c.14602C>T (p.Pro4868Ser)
c.14599C>T (p.Pro4867Ser)
c.14584C>T (p.Pro4862Ser)
c.14614C>T (p.Pro4872Ser)
c.14530C>T (p.Pro4844Ser)
 dbSNP gnomAD v3 gnomAD v4
19g.38580476C>ACA405687997RYR1c.1554C>A
c.2951C>A
c.2923C>A
c.14618C>A (p.Pro4873His)
c.14603C>A (p.Pro4868His)
c.14600C>A (p.Pro4867His)
c.14585C>A (p.Pro4862His)
c.14615C>A (p.Pro4872His)
c.14531C>A (p.Pro4844His)
19g.38580476C=CA2335092503RYR1c.1554C=
c.2951C=
c.2923C=
c.14618C= (p.Pro4873=)
c.14603C= (p.Pro4868=)
c.14600C= (p.Pro4867=)
c.14585C= (p.Pro4862=)
c.14615C= (p.Pro4872=)
c.14531C= (p.Pro4844=)
19g.38580476C>GCA405687999RYR1c.1554C>G
c.2951C>G
c.2923C>G
c.14618C>G (p.Pro4873Arg)
c.14603C>G (p.Pro4868Arg)
c.14600C>G (p.Pro4867Arg)
c.14585C>G (p.Pro4862Arg)
c.14615C>G (p.Pro4872Arg)
c.14531C>G (p.Pro4844Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.38580476C>TCA405688000RYR1c.1554C>T
c.2951C>T
c.2923C>T
c.14618C>T (p.Pro4873Leu)
c.14603C>T (p.Pro4868Leu)
c.14600C>T (p.Pro4867Leu)
c.14585C>T (p.Pro4862Leu)
c.14615C>T (p.Pro4872Leu)
c.14531C>T (p.Pro4844Leu)
19g.38580477T>ACA507356151RYR1c.1555T>A
c.2952T>A
c.2924T>A
c.14619T>A (p.Pro4873=)
c.14604T>A (p.Pro4868=)
c.14601T>A (p.Pro4867=)
c.14586T>A (p.Pro4862=)
c.14616T>A (p.Pro4872=)
c.14532T>A (p.Pro4844=)
19g.38580477T>CCA507356152RYR1c.1555T>C
c.2952T>C
c.2924T>C
c.14619T>C (p.Pro4873=)
c.14604T>C (p.Pro4868=)
c.14601T>C (p.Pro4867=)
c.14586T>C (p.Pro4862=)
c.14616T>C (p.Pro4872=)
c.14532T>C (p.Pro4844=)
19g.38580477T>GCA507356153RYR1c.1555T>G
c.2952T>G
c.2924T>G
c.14619T>G (p.Pro4873=)
c.14604T>G (p.Pro4868=)
c.14601T>G (p.Pro4867=)
c.14586T>G (p.Pro4862=)
c.14616T>G (p.Pro4872=)
c.14532T>G (p.Pro4844=)
 dbSNP
19g.38580477T=CA2335092504RYR1c.1555T=
c.2952T=
c.2924T=
c.14619T= (p.Pro4873=)
c.14604T= (p.Pro4868=)
c.14601T= (p.Pro4867=)
c.14586T= (p.Pro4862=)
c.14616T= (p.Pro4872=)
c.14532T= (p.Pro4844=)
19g.38580478G>ACA061432RYR1c.1556G>A
c.2953G>A
c.2925G>A
c.14620G>A (p.Asp4874Asn)
c.14605G>A (p.Asp4869Asn)
c.14602G>A (p.Asp4868Asn)
c.14587G>A (p.Asp4863Asn)
c.14617G>A (p.Asp4873Asn)
c.14533G>A (p.Asp4845Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38580478G>CCA061435RYR1c.1556G>C
c.2953G>C
c.2925G>C
c.14620G>C (p.Asp4874His)
c.14605G>C (p.Asp4869His)
c.14602G>C (p.Asp4868His)
c.14587G>C (p.Asp4863His)
c.14617G>C (p.Asp4873His)
c.14533G>C (p.Asp4845His)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38580478G=CA2335092505RYR1c.1556G=
c.2953G=
c.2925G=
c.14620G= (p.Asp4874=)
c.14605G= (p.Asp4869=)
c.14602G= (p.Asp4868=)
c.14587G= (p.Asp4863=)
c.14617G= (p.Asp4873=)
c.14533G= (p.Asp4845=)
19g.38580478G>TCA405688007RYR1c.1556G>T
c.2953G>T
c.2925G>T
c.14620G>T (p.Asp4874Tyr)
c.14605G>T (p.Asp4869Tyr)
c.14602G>T (p.Asp4868Tyr)
c.14587G>T (p.Asp4863Tyr)
c.14617G>T (p.Asp4873Tyr)
c.14533G>T (p.Asp4845Tyr)
19g.38580479A>CCA405688016RYR1c.1557A>C
c.2954A>C
c.2926A>C
c.14621A>C (p.Asp4874Ala)
c.14606A>C (p.Asp4869Ala)
c.14603A>C (p.Asp4868Ala)
c.14588A>C (p.Asp4863Ala)
c.14618A>C (p.Asp4873Ala)
c.14534A>C (p.Asp4845Ala)
19g.38580479A>GCA405688012RYR1c.1557A>G
c.2954A>G
c.2926A>G
c.14621A>G (p.Asp4874Gly)
c.14606A>G (p.Asp4869Gly)
c.14603A>G (p.Asp4868Gly)
c.14588A>G (p.Asp4863Gly)
c.14618A>G (p.Asp4873Gly)
c.14534A>G (p.Asp4845Gly)
19g.38580479A>TCA405688010RYR1c.1557A>T
c.2954A>T
c.2926A>T
c.14621A>T (p.Asp4874Val)
c.14606A>T (p.Asp4869Val)
c.14603A>T (p.Asp4868Val)
c.14588A>T (p.Asp4863Val)
c.14618A>T (p.Asp4873Val)
c.14534A>T (p.Asp4845Val)

Number of alleles fetched