Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38580105_38580134dupCA061321RYR1c.1424_1447+6dup
c.2821_2844+6dup
c.2793_2816+6dup
c.14488_14511+6dup
c.14473_14496+6dup
c.14470_14493+6dup
c.14455_14478+6dup
c.14485_14508+6dup
c.14401_14424+6dup
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38580114delCA2579758273RYR1c.1433del
c.2830del
c.2802del
c.14497del (p.His4833ThrfsTer7)
c.14482del (p.His4828ThrfsTer7)
c.14479del (p.His4827ThrfsTer7)
c.14464del (p.His4822ThrfsTer7)
c.14494del (p.His4832ThrfsTer7)
c.14410del (p.His4804ThrfsTer7)
19g.38580114C>ACA405687404RYR1c.1433C>A
c.2830C>A
c.2802C>A
c.14497C>A (p.His4833Asn)
c.14482C>A (p.His4828Asn)
c.14479C>A (p.His4827Asn)
c.14464C>A (p.His4822Asn)
c.14494C>A (p.His4832Asn)
c.14410C>A (p.His4804Asn)
19g.38580114C=CA2335092308RYR1c.1433C=
c.2830C=
c.2802C=
c.14497C= (p.His4833=)
c.14482C= (p.His4828=)
c.14479C= (p.His4827=)
c.14464C= (p.His4822=)
c.14494C= (p.His4832=)
c.14410C= (p.His4804=)
19g.38580114C>GCA405687410RYR1c.1433C>G
c.2830C>G
c.2802C>G
c.14497C>G (p.His4833Asp)
c.14482C>G (p.His4828Asp)
c.14479C>G (p.His4827Asp)
c.14464C>G (p.His4822Asp)
c.14494C>G (p.His4832Asp)
c.14410C>G (p.His4804Asp)
19g.38580114C>TCA024158RYR1c.1433C>T
c.2830C>T
c.2802C>T
c.14497C>T (p.His4833Tyr)
c.14482C>T (p.His4828Tyr)
c.14479C>T (p.His4827Tyr)
c.14464C>T (p.His4822Tyr)
c.14494C>T (p.His4832Tyr)
c.14410C>T (p.His4804Tyr)
ClinVar dbSNP
19g.38580115A>CCA405687420RYR1c.1434A>C
c.2831A>C
c.2803A>C
c.14498A>C (p.His4833Pro)
c.14483A>C (p.His4828Pro)
c.14480A>C (p.His4827Pro)
c.14465A>C (p.His4822Pro)
c.14495A>C (p.His4832Pro)
c.14411A>C (p.His4804Pro)
19g.38580115A>GCA405687419RYR1c.1434A>G
c.2831A>G
c.2803A>G
c.14498A>G (p.His4833Arg)
c.14483A>G (p.His4828Arg)
c.14480A>G (p.His4827Arg)
c.14465A>G (p.His4822Arg)
c.14495A>G (p.His4832Arg)
c.14411A>G (p.His4804Arg)
19g.38580115A>TCA405687417RYR1c.1434A>T
c.2831A>T
c.2803A>T
c.14498A>T (p.His4833Leu)
c.14483A>T (p.His4828Leu)
c.14480A>T (p.His4827Leu)
c.14465A>T (p.His4822Leu)
c.14495A>T (p.His4832Leu)
c.14411A>T (p.His4804Leu)
19g.38580116C>ACA405687422RYR1c.1435C>A
c.2832C>A
c.2804C>A
c.14499C>A (p.His4833Gln)
c.14484C>A (p.His4828Gln)
c.14481C>A (p.His4827Gln)
c.14466C>A (p.His4822Gln)
c.14496C>A (p.His4832Gln)
c.14412C>A (p.His4804Gln)
19g.38580116C>GCA405687424RYR1c.1435C>G
c.2832C>G
c.2804C>G
c.14499C>G (p.His4833Gln)
c.14484C>G (p.His4828Gln)
c.14481C>G (p.His4827Gln)
c.14466C>G (p.His4822Gln)
c.14496C>G (p.His4832Gln)
c.14412C>G (p.His4804Gln)
19g.38580116C>TCA081236RYR1c.1435C>T
c.2832C>T
c.2804C>T
c.14499C>T (p.His4833=)
c.14484C>T (p.His4828=)
c.14481C>T (p.His4827=)
c.14466C>T (p.His4822=)
c.14496C>T (p.His4832=)
c.14412C>T (p.His4804=)
19g.38580117A>CCA405687425RYR1c.1436A>C
c.2833A>C
c.2805A>C
c.14500A>C (p.Asn4834His)
c.14485A>C (p.Asn4829His)
c.14482A>C (p.Asn4828His)
c.14467A>C (p.Asn4823His)
c.14497A>C (p.Asn4833His)
c.14413A>C (p.Asn4805His)
19g.38580117A>GCA405687426RYR1c.1436A>G
c.2833A>G
c.2805A>G
c.14500A>G (p.Asn4834Asp)
c.14485A>G (p.Asn4829Asp)
c.14482A>G (p.Asn4828Asp)
c.14467A>G (p.Asn4823Asp)
c.14497A>G (p.Asn4833Asp)
c.14413A>G (p.Asn4805Asp)
19g.38580117A>TCA405687428RYR1c.1436A>T
c.2833A>T
c.2805A>T
c.14500A>T (p.Asn4834Tyr)
c.14485A>T (p.Asn4829Tyr)
c.14482A>T (p.Asn4828Tyr)
c.14467A>T (p.Asn4823Tyr)
c.14497A>T (p.Asn4833Tyr)
c.14413A>T (p.Asn4805Tyr)
19g.38580118A>CCA405687431RYR1c.1437A>C
c.2834A>C
c.2806A>C
c.14501A>C (p.Asn4834Thr)
c.14486A>C (p.Asn4829Thr)
c.14483A>C (p.Asn4828Thr)
c.14468A>C (p.Asn4823Thr)
c.14498A>C (p.Asn4833Thr)
c.14414A>C (p.Asn4805Thr)
19g.38580118A>GCA405687432RYR1c.1437A>G
c.2834A>G
c.2806A>G
c.14501A>G (p.Asn4834Ser)
c.14486A>G (p.Asn4829Ser)
c.14483A>G (p.Asn4828Ser)
c.14468A>G (p.Asn4823Ser)
c.14498A>G (p.Asn4833Ser)
c.14414A>G (p.Asn4805Ser)
19g.38580118A>TCA405687434RYR1c.1437A>T
c.2834A>T
c.2806A>T
c.14501A>T (p.Asn4834Ile)
c.14486A>T (p.Asn4829Ile)
c.14483A>T (p.Asn4828Ile)
c.14468A>T (p.Asn4823Ile)
c.14498A>T (p.Asn4833Ile)
c.14414A>T (p.Asn4805Ile)
19g.38580119T>ACA405687435RYR1c.1438T>A
c.2835T>A
c.2807T>A
c.14502T>A (p.Asn4834Lys)
c.14487T>A (p.Asn4829Lys)
c.14484T>A (p.Asn4828Lys)
c.14469T>A (p.Asn4823Lys)
c.14499T>A (p.Asn4833Lys)
c.14415T>A (p.Asn4805Lys)
19g.38580119T>CCA507356104RYR1c.1438T>C
c.2835T>C
c.2807T>C
c.14502T>C (p.Asn4834=)
c.14487T>C (p.Asn4829=)
c.14484T>C (p.Asn4828=)
c.14469T>C (p.Asn4823=)
c.14499T>C (p.Asn4833=)
c.14415T>C (p.Asn4805=)
dbSNP gnomAD v2 gnomAD v4
19g.38580119T>GCA405687436RYR1c.1438T>G
c.2835T>G
c.2807T>G
c.14502T>G (p.Asn4834Lys)
c.14487T>G (p.Asn4829Lys)
c.14484T>G (p.Asn4828Lys)
c.14469T>G (p.Asn4823Lys)
c.14499T>G (p.Asn4833Lys)
c.14415T>G (p.Asn4805Lys)
19g.38580119T=CA2335092309RYR1c.1438T=
c.2835T=
c.2807T=
c.14502T= (p.Asn4834=)
c.14487T= (p.Asn4829=)
c.14484T= (p.Asn4828=)
c.14469T= (p.Asn4823=)
c.14499T= (p.Asn4833=)
c.14415T= (p.Asn4805=)
19g.38580120G>ACA405687437RYR1c.1439G>A
c.2836G>A
c.2808G>A
c.14503G>A (p.Gly4835Arg)
c.14488G>A (p.Gly4830Arg)
c.14485G>A (p.Gly4829Arg)
c.14470G>A (p.Gly4824Arg)
c.14500G>A (p.Gly4834Arg)
c.14416G>A (p.Gly4806Arg)
19g.38580120G>CCA405687439RYR1c.1439G>C
c.2836G>C
c.2808G>C
c.14503G>C (p.Gly4835Arg)
c.14488G>C (p.Gly4830Arg)
c.14485G>C (p.Gly4829Arg)
c.14470G>C (p.Gly4824Arg)
c.14500G>C (p.Gly4834Arg)
c.14416G>C (p.Gly4806Arg)
19g.38580120G>TCA405687441RYR1c.1439G>T
c.2836G>T
c.2808G>T
c.14503G>T (p.Gly4835Trp)
c.14488G>T (p.Gly4830Trp)
c.14485G>T (p.Gly4829Trp)
c.14470G>T (p.Gly4824Trp)
c.14500G>T (p.Gly4834Trp)
c.14416G>T (p.Gly4806Trp)
19g.38580121G>ACA405687447RYR1c.1440G>A
c.2837G>A
c.2809G>A
c.14504G>A (p.Gly4835Glu)
c.14489G>A (p.Gly4830Glu)
c.14486G>A (p.Gly4829Glu)
c.14471G>A (p.Gly4824Glu)
c.14501G>A (p.Gly4834Glu)
c.14417G>A (p.Gly4806Glu)
19g.38580121G>CCA405687443RYR1c.1440G>C
c.2837G>C
c.2809G>C
c.14504G>C (p.Gly4835Ala)
c.14489G>C (p.Gly4830Ala)
c.14486G>C (p.Gly4829Ala)
c.14471G>C (p.Gly4824Ala)
c.14501G>C (p.Gly4834Ala)
c.14417G>C (p.Gly4806Ala)
19g.38580121G>TCA405687445RYR1c.1440G>T
c.2837G>T
c.2809G>T
c.14504G>T (p.Gly4835Val)
c.14489G>T (p.Gly4830Val)
c.14486G>T (p.Gly4829Val)
c.14471G>T (p.Gly4824Val)
c.14501G>T (p.Gly4834Val)
c.14417G>T (p.Gly4806Val)
19g.38580122G>ACA024159RYR1c.1441G>A
c.2838G>A
c.2810G>A
c.14505G>A (p.Gly4835=)
c.14490G>A (p.Gly4830=)
c.14487G>A (p.Gly4829=)
c.14472G>A (p.Gly4824=)
c.14502G>A (p.Gly4834=)
c.14418G>A (p.Gly4806=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38580122G>CCA507356107RYR1c.1441G>C
c.2838G>C
c.2810G>C
c.14505G>C (p.Gly4835=)
c.14490G>C (p.Gly4830=)
c.14487G>C (p.Gly4829=)
c.14472G>C (p.Gly4824=)
c.14502G>C (p.Gly4834=)
c.14418G>C (p.Gly4806=)
gnomAD v4
19g.38580122G=CA2335092310RYR1c.1441G=
c.2838G=
c.2810G=
c.14505G= (p.Gly4835=)
c.14490G= (p.Gly4830=)
c.14487G= (p.Gly4829=)
c.14472G= (p.Gly4824=)
c.14502G= (p.Gly4834=)
c.14418G= (p.Gly4806=)
19g.38580122G>TCA507356108RYR1c.1441G>T
c.2838G>T
c.2810G>T
c.14505G>T (p.Gly4835=)
c.14490G>T (p.Gly4830=)
c.14487G>T (p.Gly4829=)
c.14472G>T (p.Gly4824=)
c.14502G>T (p.Gly4834=)
c.14418G>T (p.Gly4806=)
19g.38580123A>CCA405687451RYR1c.1442A>C
c.2839A>C
c.2811A>C
c.14506A>C (p.Lys4836Gln)
c.14491A>C (p.Lys4831Gln)
c.14488A>C (p.Lys4830Gln)
c.14473A>C (p.Lys4825Gln)
c.14503A>C (p.Lys4835Gln)
c.14419A>C (p.Lys4807Gln)
19g.38580123A>GCA405687452RYR1c.1442A>G
c.2839A>G
c.2811A>G
c.14506A>G (p.Lys4836Glu)
c.14491A>G (p.Lys4831Glu)
c.14488A>G (p.Lys4830Glu)
c.14473A>G (p.Lys4825Glu)
c.14503A>G (p.Lys4835Glu)
c.14419A>G (p.Lys4807Glu)
19g.38580123A>TCA405687454RYR1c.1442A>T
c.2839A>T
c.2811A>T
c.14506A>T (p.Lys4836Ter)
c.14491A>T (p.Lys4831Ter)
c.14488A>T (p.Lys4830Ter)
c.14473A>T (p.Lys4825Ter)
c.14503A>T (p.Lys4835Ter)
c.14419A>T (p.Lys4807Ter)
19g.38580124A>CCA405687456RYR1c.1443A>C
c.2840A>C
c.2812A>C
c.14507A>C (p.Lys4836Thr)
c.14492A>C (p.Lys4831Thr)
c.14489A>C (p.Lys4830Thr)
c.14474A>C (p.Lys4825Thr)
c.14504A>C (p.Lys4835Thr)
c.14420A>C (p.Lys4807Thr)
19g.38580124A>GCA405687457RYR1c.1443A>G
c.2840A>G
c.2812A>G
c.14507A>G (p.Lys4836Arg)
c.14492A>G (p.Lys4831Arg)
c.14489A>G (p.Lys4830Arg)
c.14474A>G (p.Lys4825Arg)
c.14504A>G (p.Lys4835Arg)
c.14420A>G (p.Lys4807Arg)
19g.38580124A>TCA405687458RYR1c.1443A>T
c.2840A>T
c.2812A>T
c.14507A>T (p.Lys4836Ile)
c.14492A>T (p.Lys4831Ile)
c.14489A>T (p.Lys4830Ile)
c.14474A>T (p.Lys4825Ile)
c.14504A>T (p.Lys4835Ile)
c.14420A>T (p.Lys4807Ile)
19g.38580125A=CA2335092311RYR1c.1444A=
c.2841A=
c.2813A=
c.14508A= (p.Lys4836=)
c.14493A= (p.Lys4831=)
c.14490A= (p.Lys4830=)
c.14475A= (p.Lys4825=)
c.14505A= (p.Lys4835=)
c.14421A= (p.Lys4807=)
19g.38580125A>CCA405687460RYR1c.1444A>C
c.2841A>C
c.2813A>C
c.14508A>C (p.Lys4836Asn)
c.14493A>C (p.Lys4831Asn)
c.14490A>C (p.Lys4830Asn)
c.14475A>C (p.Lys4825Asn)
c.14505A>C (p.Lys4835Asn)
c.14421A>C (p.Lys4807Asn)
19g.38580125A>GCA507356112RYR1c.1444A>G
c.2841A>G
c.2813A>G
c.14508A>G (p.Lys4836=)
c.14493A>G (p.Lys4831=)
c.14490A>G (p.Lys4830=)
c.14475A>G (p.Lys4825=)
c.14505A>G (p.Lys4835=)
c.14421A>G (p.Lys4807=)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38580125A>TCA405687461RYR1c.1444A>T
c.2841A>T
c.2813A>T
c.14508A>T (p.Lys4836Asn)
c.14493A>T (p.Lys4831Asn)
c.14490A>T (p.Lys4830Asn)
c.14475A>T (p.Lys4825Asn)
c.14505A>T (p.Lys4835Asn)
c.14421A>T (p.Lys4807Asn)
19g.38580126C>ACA405687464RYR1c.1445C>A
c.2842C>A
c.2814C>A
c.14509C>A (p.Gln4837Lys)
c.14494C>A (p.Gln4832Lys)
c.14491C>A (p.Gln4831Lys)
c.14476C>A (p.Gln4826Lys)
c.14506C>A (p.Gln4836Lys)
c.14422C>A (p.Gln4808Lys)
ClinVar dbSNP
19g.38580126C=CA2335092313RYR1c.1445C=
c.2842C=
c.2814C=
c.14509C= (p.Gln4837=)
c.14494C= (p.Gln4832=)
c.14491C= (p.Gln4831=)
c.14476C= (p.Gln4826=)
c.14506C= (p.Gln4836=)
c.14422C= (p.Gln4808=)
19g.38580126C>GCA405687465RYR1c.1445C>G
c.2842C>G
c.2814C>G
c.14509C>G (p.Gln4837Glu)
c.14494C>G (p.Gln4832Glu)
c.14491C>G (p.Gln4831Glu)
c.14476C>G (p.Gln4826Glu)
c.14506C>G (p.Gln4836Glu)
c.14422C>G (p.Gln4808Glu)
ClinVar dbSNP
19g.38580126C>TCA405687467RYR1c.1445C>T
c.2842C>T
c.2814C>T
c.14509C>T (p.Gln4837Ter)
c.14494C>T (p.Gln4832Ter)
c.14491C>T (p.Gln4831Ter)
c.14476C>T (p.Gln4826Ter)
c.14506C>T (p.Gln4836Ter)
c.14422C>T (p.Gln4808Ter)
19g.38580126_38580127delinsCACA2335092312RYR1c.1445_1446delinsCA
c.2842_2843delinsCA
c.2814_2815delinsCA
c.14509_14510delinsCA (p.Gln4837=)
c.14494_14495delinsCA (p.Gln4832=)
c.14491_14492delinsCA (p.Gln4831=)
c.14476_14477delinsCA (p.Gln4826=)
c.14506_14507delinsCA (p.Gln4836=)
c.14422_14423delinsCA (p.Gln4808=)
19g.38580127delCA024161RYR1c.1446del
c.2843del
c.2815del
c.14510del (p.Gln4837ArgfsTer3)
c.14495del (p.Gln4832ArgfsTer3)
c.14492del (p.Gln4831ArgfsTer3)
c.14477del (p.Gln4826ArgfsTer3)
c.14507del (p.Gln4836ArgfsTer3)
c.14423del (p.Gln4808ArgfsTer3)
ClinVar dbSNP
19g.38580127A>CCA405687474RYR1c.1446A>C
c.2843A>C
c.2815A>C
c.14510A>C (p.Gln4837Pro)
c.14495A>C (p.Gln4832Pro)
c.14492A>C (p.Gln4831Pro)
c.14477A>C (p.Gln4826Pro)
c.14507A>C (p.Gln4836Pro)
c.14423A>C (p.Gln4808Pro)
19g.38580127A>GCA405687476RYR1c.1446A>G
c.2843A>G
c.2815A>G
c.14510A>G (p.Gln4837Arg)
c.14495A>G (p.Gln4832Arg)
c.14492A>G (p.Gln4831Arg)
c.14477A>G (p.Gln4826Arg)
c.14507A>G (p.Gln4836Arg)
c.14423A>G (p.Gln4808Arg)

Number of alleles fetched