Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38486097G>ACA081788RYR1c.5442G>A (p.Met1814Ile)
c.5439G>A (p.Met1813Ile)
n.5525G>A
 ClinVar gnomAD v4
19g.38486097G>CCA405655324RYR1c.5442G>C (p.Met1814Ile)
c.5439G>C (p.Met1813Ile)
n.5525G>C
19g.38486097G>TCA405655327RYR1c.5442G>T (p.Met1814Ile)
c.5439G>T (p.Met1813Ile)
n.5525G>T
19g.38486098C>ACA405655329RYR1c.5443C>A (p.Leu1815Met)
c.5440C>A (p.Leu1814Met)
n.5526C>A
19g.38486098C=CA2335046401RYR1c.5443C= (p.Leu1815=)
c.5440C= (p.Leu1814=)
n.5526C=
19g.38486098C>GCA405655330RYR1c.5443C>G (p.Leu1815Val)
c.5440C>G (p.Leu1814Val)
n.5526C>G
19g.38486098C>TCA507353451RYR1c.5443C>T (p.Leu1815=)
c.5440C>T (p.Leu1814=)
n.5526C>T
 dbSNP gnomAD v2
19g.38486099delCA2695228663RYR1c.5444del (p.Leu1815ArgfsTer?)
c.5441del (p.Leu1814ArgfsTer?)
n.5527del
19g.38486099T>ACA405655331RYR1c.5444T>A (p.Leu1815Gln)
c.5441T>A (p.Leu1814Gln)
n.5527T>A
19g.38486099T>CCA405655332RYR1c.5444T>C (p.Leu1815Pro)
c.5441T>C (p.Leu1814Pro)
n.5527T>C
19g.38486099T>GCA405655333RYR1c.5444T>G (p.Leu1815Arg)
c.5441T>G (p.Leu1814Arg)
n.5527T>G
 ClinVar
19g.38486100G>ACA507353452RYR1c.5445G>A (p.Leu1815=)
c.5442G>A (p.Leu1814=)
n.5528G>A
 dbSNP gnomAD v2 gnomAD v4
19g.38486100G>CCA507353453RYR1c.5445G>C (p.Leu1815=)
c.5442G>C (p.Leu1814=)
n.5528G>C
19g.38486100G=CA2335046402RYR1c.5445G= (p.Leu1815=)
c.5442G= (p.Leu1814=)
n.5528G=
19g.38486100G>TCA507353454RYR1c.5445G>T (p.Leu1815=)
c.5442G>T (p.Leu1814=)
n.5528G>T
19g.38486104delCA2573054753RYR1c.5449del (p.Glu1817ArgfsTer?)
c.5446del (p.Glu1816ArgfsTer?)
n.5532del
 ClinVar dbSNP gnomAD v4
19g.38486101G>ACA405655334RYR1c.5446G>A (p.Gly1816Arg)
c.5443G>A (p.Gly1815Arg)
n.5529G>A
19g.38486101G>CCA405655339RYR1c.5446G>C (p.Gly1816Arg)
c.5443G>C (p.Gly1815Arg)
n.5529G>C
19g.38486101G>TCA405655337RYR1c.5446G>T (p.Gly1816Trp)
c.5443G>T (p.Gly1815Trp)
n.5529G>T
 COSMIC
19g.38486102G>ACA405655341RYR1c.5447G>A (p.Gly1816Glu)
c.5444G>A (p.Gly1815Glu)
n.5530G>A
19g.38486102G>CCA405655352RYR1c.5447G>C (p.Gly1816Ala)
c.5444G>C (p.Gly1815Ala)
n.5530G>C
 gnomAD v4
19g.38486102G>TCA405655357RYR1c.5447G>T (p.Gly1816Val)
c.5444G>T (p.Gly1815Val)
n.5530G>T
19g.38486103G>ACA507353456RYR1c.5448G>A (p.Gly1816=)
c.5445G>A (p.Gly1815=)
n.5531G>A
19g.38486103G>CCA507353457RYR1c.5448G>C (p.Gly1816=)
c.5445G>C (p.Gly1815=)
n.5531G>C
19g.38486103G>TCA507353458RYR1c.5448G>T (p.Gly1816=)
c.5445G>T (p.Gly1815=)
n.5531G>T
19g.38486104G>ACA405655360RYR1c.5449G>A (p.Glu1817Lys)
c.5446G>A (p.Glu1816Lys)
n.5532G>A
19g.38486104G>CCA405655361RYR1c.5449G>C (p.Glu1817Gln)
c.5446G>C (p.Glu1816Gln)
n.5532G>C
 dbSNP gnomAD v2 gnomAD v4
19g.38486104G=CA2335046403RYR1c.5449G= (p.Glu1817=)
c.5446G= (p.Glu1816=)
n.5532G=
19g.38486104G>TCA405655363RYR1c.5449G>T (p.Glu1817Ter)
c.5446G>T (p.Glu1816Ter)
n.5532G>T
19g.38486105A>CCA405655364RYR1c.5450A>C (p.Glu1817Ala)
c.5447A>C (p.Glu1816Ala)
n.5533A>C
19g.38486105A>GCA405655367RYR1c.5450A>G (p.Glu1817Gly)
c.5447A>G (p.Glu1816Gly)
n.5533A>G
19g.38486105A>TCA405655369RYR1c.5450A>T (p.Glu1817Val)
c.5447A>T (p.Glu1816Val)
n.5533A>T
19g.38486106G>ACA507353459RYR1c.5451G>A (p.Glu1817=)
c.5448G>A (p.Glu1816=)
n.5534G>A
19g.38486106G>CCA405655370RYR1c.5451G>C (p.Glu1817Asp)
c.5448G>C (p.Glu1816Asp)
n.5534G>C
19g.38486106G>TCA405655373RYR1c.5451G>T (p.Glu1817Asp)
c.5448G>T (p.Glu1816Asp)
n.5534G>T
 COSMIC
19g.38486107G>ACA405655385RYR1c.5452G>A (p.Ala1818Thr)
c.5449G>A (p.Ala1817Thr)
n.5535G>A
 gnomAD v4
19g.38486107G>CCA405655387RYR1c.5452G>C (p.Ala1818Pro)
c.5449G>C (p.Ala1817Pro)
n.5535G>C
19g.38486107G>TCA405655382RYR1c.5452G>T (p.Ala1818Ser)
c.5449G>T (p.Ala1817Ser)
n.5535G>T
19g.38486108C>ACA405655390RYR1c.5453C>A (p.Ala1818Glu)
c.5450C>A (p.Ala1817Glu)
n.5536C>A
19g.38486108C=CA2335046404RYR1c.5453C= (p.Ala1818=)
c.5450C= (p.Ala1817=)
n.5536C=
19g.38486108C>GCA405655395RYR1c.5453C>G (p.Ala1818Gly)
c.5450C>G (p.Ala1817Gly)
n.5536C>G
 COSMIC
19g.38486108C>TCA405655393RYR1c.5453C>T (p.Ala1818Val)
c.5450C>T (p.Ala1817Val)
n.5536C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38486109G>ACA067099RYR1c.5454G>A (p.Ala1818=)
c.5451G>A (p.Ala1817=)
n.5537G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38486109G>CCA067100RYR1c.5454G>C (p.Ala1818=)
c.5451G>C (p.Ala1817=)
n.5537G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38486109G=CA2335046405RYR1c.5454G= (p.Ala1818=)
c.5451G= (p.Ala1817=)
n.5537G=
19g.38486109G>TCA507353463RYR1c.5454G>T (p.Ala1818=)
c.5451G>T (p.Ala1817=)
n.5537G>T
19g.38486110G>ACA405655404RYR1c.5455G>A (p.Val1819Met)
c.5452G>A (p.Val1818Met)
n.5538G>A
 COSMIC
19g.38486110G>CCA405655411RYR1c.5455G>C (p.Val1819Leu)
c.5452G>C (p.Val1818Leu)
n.5538G>C
19g.38486110G>TCA405655405RYR1c.5455G>T (p.Val1819Leu)
c.5452G>T (p.Val1818Leu)
n.5538G>T
19g.38486111T>ACA405655414RYR1c.5456T>A (p.Val1819Glu)
c.5453T>A (p.Val1818Glu)
n.5539T>A
19g.38486111T>CCA405655420RYR1c.5456T>C (p.Val1819Ala)
c.5453T>C (p.Val1818Ala)
n.5539T>C
19g.38486111T>GCA405655424RYR1c.5456T>G (p.Val1819Gly)
c.5453T>G (p.Val1818Gly)
n.5539T>G
19g.38486112G>ACA081789RYR1c.5457G>A (p.Val1819=)
c.5454G>A (p.Val1818=)
n.5540G>A
 dbSNP gnomAD v2
19g.38486112G>CCA081790RYR1c.5457G>C (p.Val1819=)
c.5454G>C (p.Val1818=)
n.5540G>C
 dbSNP
19g.38486112G=CA2335046406RYR1c.5457G= (p.Val1819=)
c.5454G= (p.Val1818=)
n.5540G=
19g.38486112G>TCA507353466RYR1c.5457G>T (p.Val1819=)
c.5454G>T (p.Val1818=)
n.5540G>T
19g.38486113C>ACA405655431RYR1c.5458C>A (p.Arg1820Ser)
c.5455C>A (p.Arg1819Ser)
n.5541C>A
 gnomAD v4
19g.38486113C=CA2335046407RYR1c.5458C= (p.Arg1820=)
c.5455C= (p.Arg1819=)
n.5541C=
19g.38486113C>GCA405655434RYR1c.5458C>G (p.Arg1820Gly)
c.5455C>G (p.Arg1819Gly)
n.5541C>G
19g.38486113C>TCA067103RYR1c.5458C>T (p.Arg1820Cys)
c.5455C>T (p.Arg1819Cys)
n.5541C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38486114G>ACA067108RYR1c.5459G>A (p.Arg1820His)
c.5456G>A (p.Arg1819His)
n.5542G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38486114G>CCA405655445RYR1c.5459G>C (p.Arg1820Pro)
c.5456G>C (p.Arg1819Pro)
n.5542G>C
19g.38486114G=CA2335046408RYR1c.5459G= (p.Arg1820=)
c.5456G= (p.Arg1819=)
n.5542G=
19g.38486114G>TCA308093857RYR1c.5459G>T (p.Arg1820Leu)
c.5456G>T (p.Arg1819Leu)
n.5542G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38486115C>ACA507353468RYR1c.5460C>A (p.Arg1820=)
c.5457C>A (p.Arg1819=)
n.5543C>A
19g.38486115C=CA2335046409RYR1c.5460C= (p.Arg1820=)
c.5457C= (p.Arg1819=)
n.5543C=
19g.38486115C>GCA507353469RYR1c.5460C>G (p.Arg1820=)
c.5457C>G (p.Arg1819=)
n.5543C>G
19g.38486115C>TCA507353470RYR1c.5460C>T (p.Arg1820=)
c.5457C>T (p.Arg1819=)
n.5543C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38486116G>ACA067121RYR1c.5461G>A (p.Asp1821Asn)
c.5458G>A (p.Asp1820Asn)
n.5544G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38486116G>CCA405655449RYR1c.5461G>C (p.Asp1821His)
c.5458G>C (p.Asp1820His)
n.5544G>C
19g.38486116G=CA2335046410RYR1c.5461G= (p.Asp1821=)
c.5458G= (p.Asp1820=)
n.5544G=
19g.38486116G>TCA081791RYR1c.5461G>T (p.Asp1821Tyr)
c.5458G>T (p.Asp1820Tyr)
n.5544G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38486117A>CCA405655450RYR1c.5462A>C (p.Asp1821Ala)
c.5459A>C (p.Asp1820Ala)
n.5545A>C
19g.38486117A>GCA405655453RYR1c.5462A>G (p.Asp1821Gly)
c.5459A>G (p.Asp1820Gly)
n.5545A>G
19g.38486117A>TCA405655451RYR1c.5462A>T (p.Asp1821Val)
c.5459A>T (p.Asp1820Val)
n.5545A>T
19g.38486118C>ACA405655459RYR1c.5463C>A (p.Asp1821Glu)
c.5460C>A (p.Asp1820Glu)
n.5546C>A
19g.38486118C=CA2335046411RYR1c.5463C= (p.Asp1821=)
c.5460C= (p.Asp1820=)
n.5546C=
19g.38486118C>GCA405655460RYR1c.5463C>G (p.Asp1821Glu)
c.5460C>G (p.Asp1820Glu)
n.5546C>G
19g.38486118C>TCA067129RYR1c.5463C>T (p.Asp1821=)
c.5460C>T (p.Asp1820=)
n.5546C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38486119G>ACA081793RYR1c.5464G>A (p.Gly1822Ser)
c.5461G>A (p.Gly1821Ser)
n.5547G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38486119G>CCA405655468RYR1c.5464G>C (p.Gly1822Arg)
c.5461G>C (p.Gly1821Arg)
n.5547G>C
19g.38486119G=CA2335046412RYR1c.5464G= (p.Gly1822=)
c.5461G= (p.Gly1821=)
n.5547G=
19g.38486119G>TCA081794RYR1c.5464G>T (p.Gly1822Cys)
c.5461G>T (p.Gly1821Cys)
n.5547G>T
 gnomAD v4 COSMIC
19g.38486120G>ACA405655473RYR1c.5465G>A (p.Gly1822Asp)
c.5462G>A (p.Gly1821Asp)
n.5548G>A
 ClinVar
19g.38486120G>CCA405655475RYR1c.5465G>C (p.Gly1822Ala)
c.5462G>C (p.Gly1821Ala)
n.5548G>C
19g.38486120G>TCA405655477RYR1c.5465G>T (p.Gly1822Val)
c.5462G>T (p.Gly1821Val)
n.5548G>T
19g.38486121T>ACA507353474RYR1c.5466T>A (p.Gly1822=)
c.5463T>A (p.Gly1821=)
n.5549T>A
19g.38486121T>CCA507353476RYR1c.5466T>C (p.Gly1822=)
c.5463T>C (p.Gly1821=)
n.5549T>C
19g.38486121T>GCA507353477RYR1c.5466T>G (p.Gly1822=)
c.5463T>G (p.Gly1821=)
n.5549T>G
19g.38486122G>ACA405655485RYR1c.5467G>A (p.Gly1823Arg)
c.5464G>A (p.Gly1822Arg)
n.5550G>A
 dbSNP gnomAD v2
19g.38486122G>CCA405655487RYR1c.5467G>C (p.Gly1823Arg)
c.5464G>C (p.Gly1822Arg)
n.5550G>C
19g.38486122G=CA2335046413RYR1c.5467G= (p.Gly1823=)
c.5464G= (p.Gly1822=)
n.5550G=
19g.38486122G>TCA405655483RYR1c.5467G>T (p.Gly1823Trp)
c.5464G>T (p.Gly1822Trp)
n.5550G>T
19g.38486123G>ACA067133RYR1c.5468G>A (p.Gly1823Glu)
c.5465G>A (p.Gly1822Glu)
n.5551G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38486123G>CCA067136RYR1c.5468G>C (p.Gly1823Ala)
c.5465G>C (p.Gly1822Ala)
n.5551G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38486123G=CA2335046414RYR1c.5468G= (p.Gly1823=)
c.5465G= (p.Gly1822=)
n.5551G=
19g.38486123G>TCA405655493RYR1c.5468G>T (p.Gly1823Val)
c.5465G>T (p.Gly1822Val)
n.5551G>T
19g.38486123_38486125delCA2584898024RYR1c.5468_5470del (p.Gly1823_Gln1824delinsGlu)
c.5465_5467del (p.Gly1822_Gln1823delinsGlu)
n.5551_5553del
 gnomAD v4
19g.38486124G>ACA10587316RYR1c.5469G>A (p.Gly1823=)
c.5466G>A (p.Gly1822=)
n.5552G>A
 ClinVar dbSNP COSMIC
19g.38486124G>CCA507353480RYR1c.5469G>C (p.Gly1823=)
c.5466G>C (p.Gly1822=)
n.5552G>C
19g.38486124G=CA2335046415RYR1c.5469G= (p.Gly1823=)
c.5466G= (p.Gly1822=)
n.5552G=
19g.38486124G>TCA507353481RYR1c.5469G>T (p.Gly1823=)
c.5466G>T (p.Gly1822=)
n.5552G>T
 dbSNP gnomAD v2 gnomAD v4
19g.38486125C>ACA405655505RYR1c.5470C>A (p.Gln1824Lys)
c.5467C>A (p.Gln1823Lys)
n.5553C>A
 COSMIC
19g.38486125C>GCA405655509RYR1c.5470C>G (p.Gln1824Glu)
c.5467C>G (p.Gln1823Glu)
n.5553C>G
19g.38486125C>TCA405655516RYR1c.5470C>T (p.Gln1824Ter)
c.5467C>T (p.Gln1823Ter)
n.5553C>T
19g.38486126A>CCA405655519RYR1c.5471A>C (p.Gln1824Pro)
c.5468A>C (p.Gln1823Pro)
n.5554A>C
 ClinVar
19g.38486126A>GCA405655522RYR1c.5471A>G (p.Gln1824Arg)
c.5468A>G (p.Gln1823Arg)
n.5554A>G
19g.38486126A>TCA405655531RYR1c.5471A>T (p.Gln1824Leu)
c.5468A>T (p.Gln1823Leu)
n.5554A>T
19g.38486127G>ACA507353482RYR1c.5472G>A (p.Gln1824=)
c.5469G>A (p.Gln1823=)
n.5555G>A
 gnomAD v4
19g.38486127G>CCA308093887RYR1c.5472G>C (p.Gln1824His)
c.5469G>C (p.Gln1823His)
n.5555G>C
 dbSNP gnomAD v4
19g.38486127G=CA2335046416RYR1c.5472G= (p.Gln1824=)
c.5469G= (p.Gln1823=)
n.5555G=
19g.38486127G>TCA405655550RYR1c.5472G>T (p.Gln1824His)
c.5469G>T (p.Gln1823His)
n.5555G>T
19g.38486128C>ACA308093893RYR1c.5473C>A (p.His1825Asn)
c.5470C>A (p.His1824Asn)
n.5556C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38486128C=CA2335046417RYR1c.5473C= (p.His1825=)
c.5470C= (p.His1824=)
n.5556C=
19g.38486128C>GCA405655557RYR1c.5473C>G (p.His1825Asp)
c.5470C>G (p.His1824Asp)
n.5556C>G
19g.38486128C>TCA405655552RYR1c.5473C>T (p.His1825Tyr)
c.5470C>T (p.His1824Tyr)
n.5556C>T
19g.38486129_38486139delCA2584898025RYR1c.5474_5484del (p.His1825ProfsTer29)
c.5471_5481del (p.His1824ProfsTer29)
n.5557_5567del
 gnomAD v4
19g.38486129A>CCA405655562RYR1c.5474A>C (p.His1825Pro)
c.5471A>C (p.His1824Pro)
n.5557A>C
19g.38486129A>GCA405655566RYR1c.5474A>G (p.His1825Arg)
c.5471A>G (p.His1824Arg)
n.5557A>G
19g.38486129A>TCA405655571RYR1c.5474A>T (p.His1825Leu)
c.5471A>T (p.His1824Leu)
n.5557A>T
19g.38486130C>ACA405655574RYR1c.5475C>A (p.His1825Gln)
c.5472C>A (p.His1824Gln)
n.5558C>A
 dbSNP gnomAD v2 gnomAD v4
19g.38486130C=CA2335046418RYR1c.5475C= (p.His1825=)
c.5472C= (p.His1824=)
n.5558C=
19g.38486130C>GCA405655577RYR1c.5475C>G (p.His1825Gln)
c.5472C>G (p.His1824Gln)
n.5558C>G
19g.38486130C>TCA067145RYR1c.5475C>T (p.His1825=)
c.5472C>T (p.His1824=)
n.5558C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38486131G>ACA067149RYR1c.5476G>A (p.Ala1826Thr)
c.5473G>A (p.Ala1825Thr)
n.5559G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38486131G>CCA405655589RYR1c.5476G>C (p.Ala1826Pro)
c.5473G>C (p.Ala1825Pro)
n.5559G>C
 COSMIC
19g.38486131G=CA2335046419RYR1c.5476G= (p.Ala1826=)
c.5473G= (p.Ala1825=)
n.5559G=
19g.38486131G>TCA405655587RYR1c.5476G>T (p.Ala1826Ser)
c.5473G>T (p.Ala1825Ser)
n.5559G>T
19g.38486132C>ACA405655592RYR1c.5477C>A (p.Ala1826Asp)
c.5474C>A (p.Ala1825Asp)
n.5560C>A
19g.38486132C>GCA405655594RYR1c.5477C>G (p.Ala1826Gly)
c.5474C>G (p.Ala1825Gly)
n.5560C>G
19g.38486132C>TCA405655601RYR1c.5477C>T (p.Ala1826Val)
c.5474C>T (p.Ala1825Val)
n.5560C>T
19g.38486133T>ACA507353488RYR1c.5478T>A (p.Ala1826=)
c.5475T>A (p.Ala1825=)
n.5561T>A
19g.38486133T>CCA9415811RYR1c.5478T>C (p.Ala1826=)
c.5475T>C (p.Ala1825=)
n.5561T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38486133T>GCA507353487RYR1c.5478T>G (p.Ala1826=)
c.5475T>G (p.Ala1825=)
n.5561T>G
19g.38486133T=CA2335046421RYR1c.5478T= (p.Ala1826=)
c.5475T= (p.Ala1825=)
n.5561T=
19g.38486133_38486134delinsTCCA2335046420RYR1c.5478_5479delinsTC (p.Ala1826=)
c.5475_5476delinsTC (p.Ala1825=)
n.5561_5562delinsTC
19g.38486134delCA9415810RYR1c.5479del (p.Arg1827AlafsTer24)
c.5476del (p.Arg1826AlafsTer24)
n.5562del
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38486134C>ACA081799RYR1c.5479C>A (p.Arg1827Ser)
c.5476C>A (p.Arg1826Ser)
n.5562C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38486134C=CA2335046422RYR1c.5479C= (p.Arg1827=)
c.5476C= (p.Arg1826=)
n.5562C=
19g.38486134C>GCA405655609RYR1c.5479C>G (p.Arg1827Gly)
c.5476C>G (p.Arg1826Gly)
n.5562C>G
19g.38486134C>TCA405655612RYR1c.5479C>T (p.Arg1827Cys)
c.5476C>T (p.Arg1826Cys)
n.5562C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38486136_38486137delCA081800RYR1c.5481_5482del (p.Asp1828ProfsTer29)
c.5478_5479del (p.Asp1827ProfsTer29)
n.5564_5565del
19g.38486135G>ACA067162RYR1c.5480G>A (p.Arg1827His)
c.5477G>A (p.Arg1826His)
n.5563G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38486135G>CCA405655618RYR1c.5480G>C (p.Arg1827Pro)
c.5477G>C (p.Arg1826Pro)
n.5563G>C
19g.38486135G=CA2335046423RYR1c.5480G= (p.Arg1827=)
c.5477G= (p.Arg1826=)
n.5563G=
19g.38486135G>TCA405655632RYR1c.5480G>T (p.Arg1827Leu)
c.5477G>T (p.Arg1826Leu)
n.5563G>T
19g.38486136C>ACA507353492RYR1c.5481C>A (p.Arg1827=)
c.5478C>A (p.Arg1826=)
n.5564C>A
 COSMIC
19g.38486136C=CA2335046424RYR1c.5481C= (p.Arg1827=)
c.5478C= (p.Arg1826=)
n.5564C=
19g.38486136C>GCA507353493RYR1c.5481C>G (p.Arg1827=)
c.5478C>G (p.Arg1826=)
n.5564C>G
19g.38486136C>TCA507353494RYR1c.5481C>T (p.Arg1827=)
c.5478C>T (p.Arg1826=)
n.5564C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.38486137G>ACA308093933RYR1c.5482G>A (p.Asp1828Asn)
c.5479G>A (p.Asp1827Asn)
n.5565G>A
 dbSNP gnomAD v4
19g.38486137G>CCA405655636RYR1c.5482G>C (p.Asp1828His)
c.5479G>C (p.Asp1827His)
n.5565G>C
19g.38486137G=CA2335046425RYR1c.5482G= (p.Asp1828=)
c.5479G= (p.Asp1827=)
n.5565G=
19g.38486137G>TCA405655640RYR1c.5482G>T (p.Asp1828Tyr)
c.5479G>T (p.Asp1827Tyr)
n.5565G>T
19g.38486138A>CCA405655644RYR1c.5483A>C (p.Asp1828Ala)
c.5480A>C (p.Asp1827Ala)
n.5566A>C
19g.38486138A>GCA405655647RYR1c.5483A>G (p.Asp1828Gly)
c.5480A>G (p.Asp1827Gly)
n.5566A>G
 gnomAD v4
19g.38486138A>TCA405655650RYR1c.5483A>T (p.Asp1828Val)
c.5480A>T (p.Asp1827Val)
n.5566A>T
19g.38486138_38486139delinsACCA2335046426RYR1c.5483_5484delinsAC (p.Asp1828=)
c.5480_5481delinsAC (p.Asp1827=)
n.5566_5567delinsAC
19g.38486139C>ACA405655664RYR1c.5484C>A (p.Asp1828Glu)
c.5481C>A (p.Asp1827Glu)
n.5567C>A
 dbSNP
19g.38486139C=CA2335046427RYR1c.5484C= (p.Asp1828=)
c.5481C= (p.Asp1827=)
n.5567C=
19g.38486139C>GCA405655668RYR1c.5484C>G (p.Asp1828Glu)
c.5481C>G (p.Asp1827Glu)
n.5567C>G
 gnomAD v4
19g.38486139C>TCA067165RYR1c.5484C>T (p.Asp1828=)
c.5481C>T (p.Asp1827=)
n.5567C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38486142delCA308093936RYR1c.5487del (p.Val1830SerfsTer21)
c.5484del (p.Val1829SerfsTer21)
n.5570del
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38486140C>ACA405655686RYR1c.5485C>A (p.Pro1829Thr)
c.5482C>A (p.Pro1828Thr)
n.5568C>A
 ClinVar
19g.38486140C>GCA405655673RYR1c.5485C>G (p.Pro1829Ala)
c.5482C>G (p.Pro1828Ala)
n.5568C>G
19g.38486140C>TCA405655676RYR1c.5485C>T (p.Pro1829Ser)
c.5482C>T (p.Pro1828Ser)
n.5568C>T
 gnomAD v4
19g.38486141C>ACA405655689RYR1c.5486C>A (p.Pro1829His)
c.5483C>A (p.Pro1828His)
n.5569C>A
19g.38486141C>GCA405655690RYR1c.5486C>G (p.Pro1829Arg)
c.5483C>G (p.Pro1828Arg)
n.5569C>G
19g.38486141C>TCA405655692RYR1c.5486C>T (p.Pro1829Leu)
c.5483C>T (p.Pro1828Leu)
n.5569C>T
 gnomAD v4
19g.38486142C>ACA067168RYR1c.5487C>A (p.Pro1829=)
c.5484C>A (p.Pro1828=)
n.5570C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38486142C=CA2335046428RYR1c.5487C= (p.Pro1829=)
c.5484C= (p.Pro1828=)
n.5570C=
19g.38486142C>GCA507353499RYR1c.5487C>G (p.Pro1829=)
c.5484C>G (p.Pro1828=)
n.5570C>G
19g.38486142C>TCA067172RYR1c.5487C>T (p.Pro1829=)
c.5484C>T (p.Pro1828=)
n.5570C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38486143G>ACA067174RYR1c.5488G>A (p.Val1830Ile)
c.5485G>A (p.Val1829Ile)
n.5571G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38486143G>CCA405655711RYR1c.5488G>C (p.Val1830Leu)
c.5485G>C (p.Val1829Leu)
n.5571G>C
19g.38486143G=CA2335046429RYR1c.5488G= (p.Val1830=)
c.5485G= (p.Val1829=)
n.5571G=
19g.38486143G>TCA405655713RYR1c.5488G>T (p.Val1830Phe)
c.5485G>T (p.Val1829Phe)
n.5571G>T
 gnomAD v4
19g.38486144T>ACA405655718RYR1c.5489T>A (p.Val1830Asp)
c.5486T>A (p.Val1829Asp)
n.5572T>A
19g.38486144T>CCA405655720RYR1c.5489T>C (p.Val1830Ala)
c.5486T>C (p.Val1829Ala)
n.5572T>C
19g.38486144T>GCA405655728RYR1c.5489T>G (p.Val1830Gly)
c.5486T>G (p.Val1829Gly)
n.5572T>G
19g.38486145C>ACA081804RYR1c.5490C>A (p.Val1830=)
c.5487C>A (p.Val1829=)
n.5573C>A
19g.38486145C=CA2335046430RYR1c.5490C= (p.Val1830=)
c.5487C= (p.Val1829=)
n.5573C=
19g.38486145C>GCA507353505RYR1c.5490C>G (p.Val1830=)
c.5487C>G (p.Val1829=)
n.5573C>G
19g.38486145C>TCA081805RYR1c.5490C>T (p.Val1830=)
c.5487C>T (p.Val1829=)
n.5573C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38486146G>ACA081806RYR1c.5491G>A (p.Gly1831Arg)
c.5488G>A (p.Gly1830Arg)
n.5574G>A
 dbSNP
19g.38486146G>CCA405655736RYR1c.5491G>C (p.Gly1831Arg)
c.5488G>C (p.Gly1830Arg)
n.5574G>C
19g.38486146G=CA2335046431RYR1c.5491G= (p.Gly1831=)
c.5488G= (p.Gly1830=)
n.5574G=
19g.38486146G>TCA405655733RYR1c.5491G>T (p.Gly1831Trp)
c.5488G>T (p.Gly1830Trp)
n.5574G>T
 dbSNP
19g.38486150dupCA2814332822RYR1c.5495dup (p.Ser1833LeufsTer25)
c.5492dup (p.Ser1832LeufsTer25)
n.5578dup
19g.38486147G>ACA405655738RYR1c.5492G>A (p.Gly1831Glu)
c.5489G>A (p.Gly1830Glu)
n.5575G>A
19g.38486147G>CCA405655740RYR1c.5492G>C (p.Gly1831Ala)
c.5489G>C (p.Gly1830Ala)
n.5575G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38486147G=CA2335046432RYR1c.5492G= (p.Gly1831=)
c.5489G= (p.Gly1830=)
n.5575G=
19g.38486147G>TCA405655742RYR1c.5492G>T (p.Gly1831Val)
c.5489G>T (p.Gly1830Val)
n.5575G>T
19g.38486148G>ACA507353507RYR1c.5493G>A (p.Gly1831=)
c.5490G>A (p.Gly1830=)
n.5576G>A
 COSMIC
19g.38486148G>CCA507353509RYR1c.5493G>C (p.Gly1831=)
c.5490G>C (p.Gly1830=)
n.5576G>C
19g.38486148G=CA2335046433RYR1c.5493G= (p.Gly1831=)
c.5490G= (p.Gly1830=)
n.5576G=
19g.38486148G>TCA024522RYR1c.5493G>T (p.Gly1831=)
c.5490G>T (p.Gly1830=)
n.5576G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38486149G>ACA405655747RYR1c.5494G>A (p.Gly1832Ser)
c.5491G>A (p.Gly1831Ser)
n.5577G>A
19g.38486149G>CCA405655748RYR1c.5494G>C (p.Gly1832Arg)
c.5491G>C (p.Gly1831Arg)
n.5577G>C
19g.38486149G>TCA405655751RYR1c.5494G>T (p.Gly1832Cys)
c.5491G>T (p.Gly1831Cys)
n.5577G>T
19g.38486150G>ACA067186RYR1c.5495G>A (p.Gly1832Asp)
c.5492G>A (p.Gly1831Asp)
n.5578G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38486150G>CCA024524RYR1c.5495G>C (p.Gly1832Ala)
c.5492G>C (p.Gly1831Ala)
n.5578G>C
 ClinVar dbSNP
19g.38486150G=CA2335046434RYR1c.5495G= (p.Gly1832=)
c.5492G= (p.Gly1831=)
n.5578G=
19g.38486150G>TCA405655755RYR1c.5495G>T (p.Gly1832Val)
c.5492G>T (p.Gly1831Val)
n.5578G>T
 dbSNP gnomAD v2 gnomAD v4
19g.38486151C>ACA507353512RYR1c.5496C>A (p.Gly1832=)
c.5493C>A (p.Gly1831=)
n.5579C>A
 ClinVar
19g.38486151C=CA2335046435RYR1c.5496C= (p.Gly1832=)
c.5493C= (p.Gly1831=)
n.5579C=
19g.38486151C>GCA507353513RYR1c.5496C>G (p.Gly1832=)
c.5493C>G (p.Gly1831=)
n.5579C>G
19g.38486151C>TCA081807RYR1c.5496C>T (p.Gly1832=)
c.5493C>T (p.Gly1831=)
n.5579C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38486152T>ACA405655762RYR1c.5497T>A (p.Ser1833Thr)
c.5494T>A (p.Ser1832Thr)
n.5580T>A
 gnomAD v4
19g.38486152T>CCA405655764RYR1c.5497T>C (p.Ser1833Pro)
c.5494T>C (p.Ser1832Pro)
n.5580T>C
19g.38486152T>GCA405655769RYR1c.5497T>G (p.Ser1833Ala)
c.5494T>G (p.Ser1832Ala)
n.5580T>G
19g.38486153C>ACA405655776RYR1c.5498C>A (p.Ser1833Tyr)
c.5495C>A (p.Ser1832Tyr)
n.5581C>A
19g.38486153C>GCA405655780RYR1c.5498C>G (p.Ser1833Cys)
c.5495C>G (p.Ser1832Cys)
n.5581C>G
19g.38486153C>TCA405655779RYR1c.5498C>T (p.Ser1833Phe)
c.5495C>T (p.Ser1832Phe)
n.5581C>T
19g.38486154C>ACA507353514RYR1c.5499C>A (p.Ser1833=)
c.5496C>A (p.Ser1832=)
n.5582C>A
19g.38486154C>GCA507353515RYR1c.5499C>G (p.Ser1833=)
c.5496C>G (p.Ser1832=)
n.5582C>G
19g.38486154C>TCA081809RYR1c.5499C>T (p.Ser1833=)
c.5496C>T (p.Ser1832=)
n.5582C>T
 ClinVar gnomAD v4
19g.38486155G>ACA405655784RYR1c.5500G>A (p.Val1834Met)
c.5497G>A (p.Val1833Met)
n.5583G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38486155G>CCA405655787RYR1c.5500G>C (p.Val1834Leu)
c.5497G>C (p.Val1833Leu)
n.5583G>C
19g.38486155G=CA2335046436RYR1c.5500G= (p.Val1834=)
c.5497G= (p.Val1833=)
n.5583G=
19g.38486155G>TCA405655790RYR1c.5500G>T (p.Val1834Leu)
c.5497G>T (p.Val1833Leu)
n.5583G>T
19g.38486156T>ACA405655791RYR1c.5501T>A (p.Val1834Glu)
c.5498T>A (p.Val1833Glu)
n.5584T>A
19g.38486156T>CCA308093975RYR1c.5501T>C (p.Val1834Ala)
c.5498T>C (p.Val1833Ala)
n.5584T>C
 dbSNP
19g.38486156T>GCA405655792RYR1c.5501T>G (p.Val1834Gly)
c.5498T>G (p.Val1833Gly)
n.5584T>G
19g.38486156T=CA2335046437RYR1c.5501T= (p.Val1834=)
c.5498T= (p.Val1833=)
n.5584T=
19g.38486157G>ACA507353516RYR1c.5502G>A (p.Val1834=)
c.5499G>A (p.Val1833=)
n.5585G>A
19g.38486157G>CCA507353517RYR1c.5502G>C (p.Val1834=)
c.5499G>C (p.Val1833=)
n.5585G>C
19g.38486157G>TCA507353518RYR1c.5502G>T (p.Val1834=)
c.5499G>T (p.Val1833=)
n.5585G>T
19g.38486158G>ACA405655793RYR1c.5503G>A (p.Glu1835Lys)
c.5500G>A (p.Glu1834Lys)
n.5586G>A
 ClinVar dbSNP gnomAD v4
19g.38486158G>CCA405655794RYR1c.5503G>C (p.Glu1835Gln)
c.5500G>C (p.Glu1834Gln)
n.5586G>C
 COSMIC
19g.38486158G=CA2335046438RYR1c.5503G= (p.Glu1835=)
c.5500G= (p.Glu1834=)
n.5586G=
19g.38486158G>TCA405655795RYR1c.5503G>T (p.Glu1835Ter)
c.5500G>T (p.Glu1834Ter)
n.5586G>T
19g.38486159A=CA2335046439RYR1c.5504A= (p.Glu1835=)
c.5501A= (p.Glu1834=)
n.5587A=
19g.38486159A>CCA308093977RYR1c.5504A>C (p.Glu1835Ala)
c.5501A>C (p.Glu1834Ala)
n.5587A>C
 dbSNP
19g.38486159A>GCA405655796RYR1c.5504A>G (p.Glu1835Gly)
c.5501A>G (p.Glu1834Gly)
n.5587A>G
19g.38486159A>TCA405655797RYR1c.5504A>T (p.Glu1835Val)
c.5501A>T (p.Glu1834Val)
n.5587A>T
19g.38486160G>ACA507353519RYR1c.5505G>A (p.Glu1835=)
c.5502G>A (p.Glu1834=)
n.5588G>A
 ClinVar
19g.38486160G>CCA405655798RYR1c.5505G>C (p.Glu1835Asp)
c.5502G>C (p.Glu1834Asp)
n.5588G>C
19g.38486160G>TCA405655799RYR1c.5505G>T (p.Glu1835Asp)
c.5502G>T (p.Glu1834Asp)
n.5588G>T
19g.38486161T>ACA405655801RYR1c.5506T>A (p.Phe1836Ile)
c.5503T>A (p.Phe1835Ile)
n.5589T>A
19g.38486161T>CCA405655811RYR1c.5506T>C (p.Phe1836Leu)
c.5503T>C (p.Phe1835Leu)
n.5589T>C
19g.38486161T>GCA405655802RYR1c.5506T>G (p.Phe1836Val)
c.5503T>G (p.Phe1835Val)
n.5589T>G
19g.38486161_38486162delCA2825002784RYR1c.5506_5507del (p.Phe1836ProfsTer21)
c.5503_5504del (p.Phe1835ProfsTer21)
n.5589_5590del
 ClinVar
19g.38486162T>ACA405655819RYR1c.5507T>A (p.Phe1836Tyr)
c.5504T>A (p.Phe1835Tyr)
n.5590T>A
19g.38486162T>CCA405655827RYR1c.5507T>C (p.Phe1836Ser)
c.5504T>C (p.Phe1835Ser)
n.5590T>C
 dbSNP gnomAD v2
19g.38486162T>GCA405655823RYR1c.5507T>G (p.Phe1836Cys)
c.5504T>G (p.Phe1835Cys)
n.5590T>G
19g.38486162T=CA2335046440RYR1c.5507T= (p.Phe1836=)
c.5504T= (p.Phe1835=)
n.5590T=
19g.38486163C>ACA405655832RYR1c.5508C>A (p.Phe1836Leu)
c.5505C>A (p.Phe1835Leu)
n.5591C>A
 gnomAD v4
19g.38486163C>GCA405655839RYR1c.5508C>G (p.Phe1836Leu)
c.5505C>G (p.Phe1835Leu)
n.5591C>G
19g.38486163C>TCA507353523RYR1c.5508C>T (p.Phe1836=)
c.5505C>T (p.Phe1835=)
n.5591C>T
19g.38486163_38486165delinsCCACA2335046441RYR1c.5508_5510delinsCCA (p.Phe1836=)
c.5505_5507delinsCCA (p.Phe1835=)
n.5591_5593delinsCCA
19g.38486164C>ACA405655843RYR1c.5509C>A (p.Gln1837Lys)
c.5506C>A (p.Gln1836Lys)
n.5592C>A
19g.38486164C=CA2335046442RYR1c.5509C= (p.Gln1837=)
c.5506C= (p.Gln1836=)
n.5592C=
19g.38486164C>GCA405655846RYR1c.5509C>G (p.Gln1837Glu)
c.5506C>G (p.Gln1836Glu)
n.5592C>G
19g.38486164C>TCA405655850RYR1c.5509C>T (p.Gln1837Ter)
c.5506C>T (p.Gln1836Ter)
n.5592C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38486164_38486165delCA658799199RYR1c.5509_5510del (p.Gln1837ValfsTer20)
c.5506_5507del (p.Gln1836ValfsTer20)
n.5592_5593del
 ClinVar dbSNP gnomAD v4
19g.38486164_38486167delCA2825002785RYR1c.5509_5512del (p.Gln1837LeufsTer13)
c.5506_5509del (p.Gln1836LeufsTer13)
n.5592_5595del
 ClinVar
19g.38486165A>CCA405655854RYR1c.5510A>C (p.Gln1837Pro)
c.5507A>C (p.Gln1836Pro)
n.5593A>C
19g.38486165A>GCA405655858RYR1c.5510A>G (p.Gln1837Arg)
c.5507A>G (p.Gln1836Arg)
n.5593A>G
 gnomAD v4
19g.38486165A>TCA405655860RYR1c.5510A>T (p.Gln1837Leu)
c.5507A>T (p.Gln1836Leu)
n.5593A>T
19g.38486166G>ACA507353524RYR1c.5511G>A (p.Gln1837=)
c.5508G>A (p.Gln1836=)
n.5594G>A
19g.38486166G>CCA405655862RYR1c.5511G>C (p.Gln1837His)
c.5508G>C (p.Gln1836His)
n.5594G>C
 COSMIC
19g.38486166G=CA2335046443RYR1c.5511G= (p.Gln1837=)
c.5508G= (p.Gln1836=)
n.5594G=
19g.38486166G>TCA067205RYR1c.5511G>T (p.Gln1837His)
c.5508G>T (p.Gln1836His)
n.5594G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38486167T>ACA405655877RYR1c.5512T>A (p.Phe1838Ile)
c.5509T>A (p.Phe1837Ile)
n.5595T>A
19g.38486167T>CCA405655874RYR1c.5512T>C (p.Phe1838Leu)
c.5509T>C (p.Phe1837Leu)
n.5595T>C
19g.38486167T>GCA405655868RYR1c.5512T>G (p.Phe1838Val)
c.5509T>G (p.Phe1837Val)
n.5595T>G
19g.38486168T>ACA405655880RYR1c.5513T>A (p.Phe1838Tyr)
c.5510T>A (p.Phe1837Tyr)
n.5596T>A
19g.38486168T>CCA067209RYR1c.5513T>C (p.Phe1838Ser)
c.5510T>C (p.Phe1837Ser)
n.5596T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38486168T>GCA405655885RYR1c.5513T>G (p.Phe1838Cys)
c.5510T>G (p.Phe1837Cys)
n.5596T>G
19g.38486168T=CA2335046444RYR1c.5513T= (p.Phe1838=)
c.5510T= (p.Phe1837=)
n.5596T=
19g.38486169T>ACA405655888RYR1c.5514T>A (p.Phe1838Leu)
c.5511T>A (p.Phe1837Leu)
n.5597T>A
19g.38486169T>CCA507353528RYR1c.5514T>C (p.Phe1838=)
c.5511T>C (p.Phe1837=)
n.5597T>C
19g.38486169T>GCA405655892RYR1c.5514T>G (p.Phe1838Leu)
c.5511T>G (p.Phe1837Leu)
n.5597T>G
19g.38486170G>ACA405655898RYR1c.5515G>A (p.Val1839Met)
c.5512G>A (p.Val1838Met)
n.5598G>A
19g.38486170G>CCA405655900RYR1c.5515G>C (p.Val1839Leu)
c.5512G>C (p.Val1838Leu)
n.5598G>C
19g.38486170G>TCA405655903RYR1c.5515G>T (p.Val1839Leu)
c.5512G>T (p.Val1838Leu)
n.5598G>T
19g.38486171T>ACA405655905RYR1c.5516T>A (p.Val1839Glu)
c.5513T>A (p.Val1838Glu)
n.5599T>A
19g.38486171T>CCA081811RYR1c.5516T>C (p.Val1839Ala)
c.5513T>C (p.Val1838Ala)
n.5599T>C
19g.38486171T>GCA405655910RYR1c.5516T>G (p.Val1839Gly)
c.5513T>G (p.Val1838Gly)
n.5599T>G
19g.38486172G>ACA507353529RYR1c.5517G>A (p.Val1839=)
c.5514G>A (p.Val1838=)
n.5600G>A
19g.38486172G>CCA507353530RYR1c.5517G>C (p.Val1839=)
c.5514G>C (p.Val1838=)
n.5600G>C
19g.38486172G=CA2335046445RYR1c.5517G= (p.Val1839=)
c.5514G= (p.Val1838=)
n.5600G=
19g.38486172G>TCA507353532RYR1c.5517G>T (p.Val1839=)
c.5514G>T (p.Val1838=)
n.5600G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38486173C>ACA405655925RYR1c.5518C>A (p.Pro1840Thr)
c.5515C>A (p.Pro1839Thr)
n.5601C>A
19g.38486173C=CA2335046446RYR1c.5518C= (p.Pro1840=)
c.5515C= (p.Pro1839=)
n.5601C=
19g.38486173C>GCA405655921RYR1c.5518C>G (p.Pro1840Ala)
c.5515C>G (p.Pro1839Ala)
n.5601C>G
19g.38486173C>TCA405655916RYR1c.5518C>T (p.Pro1840Ser)
c.5515C>T (p.Pro1839Ser)
n.5601C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38486174C>ACA405655927RYR1c.5519C>A (p.Pro1840His)
c.5516C>A (p.Pro1839His)
n.5602C>A
19g.38486174C>GCA405655929RYR1c.5519C>G (p.Pro1840Arg)
c.5516C>G (p.Pro1839Arg)
n.5602C>G
19g.38486174C>TCA405655938RYR1c.5519C>T (p.Pro1840Leu)
c.5516C>T (p.Pro1839Leu)
n.5602C>T
 COSMIC
19g.38486175T>ACA067213RYR1c.5520T>A (p.Pro1840=)
c.5517T>A (p.Pro1839=)
n.5603T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38486175T>CCA507353537RYR1c.5520T>C (p.Pro1840=)
c.5517T>C (p.Pro1839=)
n.5603T>C
 dbSNP gnomAD v4
19g.38486175T>GCA507353536RYR1c.5520T>G (p.Pro1840=)
c.5517T>G (p.Pro1839=)
n.5603T>G
19g.38486175T=CA2335046447RYR1c.5520T= (p.Pro1840=)
c.5517T= (p.Pro1839=)
n.5603T=
19g.38486176G>ACA405655943RYR1c.5521G>A (p.Val1841Met)
c.5518G>A (p.Val1840Met)
n.5604G>A
19g.38486176G>CCA405655946RYR1c.5521G>C (p.Val1841Leu)
c.5518G>C (p.Val1840Leu)
n.5604G>C
19g.38486176G>TCA405655951RYR1c.5521G>T (p.Val1841Leu)
c.5518G>T (p.Val1840Leu)
n.5604G>T
 gnomAD v4
19g.38486177T>ACA405655955RYR1c.5522T>A (p.Val1841Glu)
c.5519T>A (p.Val1840Glu)
n.5605T>A
19g.38486177T>CCA405655958RYR1c.5522T>C (p.Val1841Ala)
c.5519T>C (p.Val1840Ala)
n.5605T>C
 gnomAD v4
19g.38486177T>GCA405655961RYR1c.5522T>G (p.Val1841Gly)
c.5519T>G (p.Val1840Gly)
n.5605T>G
19g.38486178G>ACA507353542RYR1c.5523G>A (p.Val1841=)
c.5520G>A (p.Val1840=)
n.5606G>A
19g.38486178G>CCA507353543RYR1c.5523G>C (p.Val1841=)
c.5520G>C (p.Val1840=)
n.5606G>C
19g.38486178G>TCA507353544RYR1c.5523G>T (p.Val1841=)
c.5520G>T (p.Val1840=)
n.5606G>T
 gnomAD v4
19g.38486179C>ACA405655962RYR1c.5524C>A (p.Leu1842Ile)
c.5521C>A (p.Leu1841Ile)
n.5607C>A
19g.38486179C=CA2335046448RYR1c.5524C= (p.Leu1842=)
c.5521C= (p.Leu1841=)
n.5607C=
19g.38486179C>GCA405655963RYR1c.5524C>G (p.Leu1842Val)
c.5521C>G (p.Leu1841Val)
n.5607C>G
 dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38486179C>TCA405655973RYR1c.5524C>T (p.Leu1842Phe)
c.5521C>T (p.Leu1841Phe)
n.5607C>T
19g.38486180T>ACA405655977RYR1c.5525T>A (p.Leu1842His)
c.5522T>A (p.Leu1841His)
n.5608T>A
19g.38486180T>CCA10648634RYR1c.5525T>C (p.Leu1842Pro)
c.5522T>C (p.Leu1841Pro)
n.5608T>C
 ClinVar dbSNP
19g.38486180T>GCA405655981RYR1c.5525T>G (p.Leu1842Arg)
c.5522T>G (p.Leu1841Arg)
n.5608T>G
19g.38486180T=CA2335046449RYR1c.5525T= (p.Leu1842=)
c.5522T= (p.Leu1841=)
n.5608T=
19g.38486181C>ACA507353546RYR1c.5526C>A (p.Leu1842=)
c.5523C>A (p.Leu1841=)
n.5609C>A
 gnomAD v4
19g.38486181C>GCA507353547RYR1c.5526C>G (p.Leu1842=)
c.5523C>G (p.Leu1841=)
n.5609C>G
 ClinVar gnomAD v4
19g.38486181C>TCA507353549RYR1c.5526C>T (p.Leu1842=)
c.5523C>T (p.Leu1841=)
n.5609C>T
19g.38486182A>CCA405655988RYR1c.5527A>C (p.Lys1843Gln)
c.5524A>C (p.Lys1842Gln)
n.5610A>C
19g.38486182A>GCA405655991RYR1c.5527A>G (p.Lys1843Glu)
c.5524A>G (p.Lys1842Glu)
n.5610A>G
19g.38486182A>TCA405655995RYR1c.5527A>T (p.Lys1843Ter)
c.5524A>T (p.Lys1842Ter)
n.5610A>T
19g.38486183A>CCA405655999RYR1c.5528A>C (p.Lys1843Thr)
c.5525A>C (p.Lys1842Thr)
n.5611A>C
19g.38486183A>GCA405656001RYR1c.5528A>G (p.Lys1843Arg)
c.5525A>G (p.Lys1842Arg)
n.5611A>G
19g.38486183A>TCA405656003RYR1c.5528A>T (p.Lys1843Met)
c.5525A>T (p.Lys1842Met)
n.5611A>T
 ClinVar
19g.38486184G>ACA507353558RYR1c.5529G>A (p.Lys1843=)
c.5526G>A (p.Lys1842=)
n.5612G>A
19g.38486184G>CCA405656005RYR1c.5529G>C (p.Lys1843Asn)
c.5526G>C (p.Lys1842Asn)
n.5612G>C
 ClinVar
19g.38486184G>TCA405656007RYR1c.5529G>T (p.Lys1843Asn)
c.5526G>T (p.Lys1842Asn)
n.5612G>T
 ClinVar
19g.38486185C>ACA405656010RYR1c.5530C>A (p.Leu1844Ile)
c.5527C>A (p.Leu1843Ile)
n.5613C>A
19g.38486185C=CA2335046450RYR1c.5530C= (p.Leu1844=)
c.5527C= (p.Leu1843=)
n.5613C=
19g.38486185C>GCA405656013RYR1c.5530C>G (p.Leu1844Val)
c.5527C>G (p.Leu1843Val)
n.5613C>G
19g.38486185C>TCA405656015RYR1c.5530C>T (p.Leu1844Phe)
c.5527C>T (p.Leu1843Phe)
n.5613C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38486186T>ACA405656020RYR1c.5531T>A (p.Leu1844His)
c.5528T>A (p.Leu1843His)
n.5614T>A
 dbSNP gnomAD v2
19g.38486186T>CCA405656032RYR1c.5531T>C (p.Leu1844Pro)
c.5528T>C (p.Leu1843Pro)
n.5614T>C
19g.38486186T>GCA405656017RYR1c.5531T>G (p.Leu1844Arg)
c.5528T>G (p.Leu1843Arg)
n.5614T>G
19g.38486186T=CA2335046451RYR1c.5531T= (p.Leu1844=)
c.5528T= (p.Leu1843=)
n.5614T=
19g.38486187C>ACA507353561RYR1c.5532C>A (p.Leu1844=)
c.5529C>A (p.Leu1843=)
n.5615C>A
 dbSNP gnomAD v3 gnomAD v4
19g.38486187C=CA2335046452RYR1c.5532C= (p.Leu1844=)
c.5529C= (p.Leu1843=)
n.5615C=
19g.38486187C>GCA507353563RYR1c.5532C>G (p.Leu1844=)
c.5529C>G (p.Leu1843=)
n.5615C>G
19g.38486187C>TCA067215RYR1c.5532C>T (p.Leu1844=)
c.5529C>T (p.Leu1843=)
n.5615C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38486188G>ACA308094009RYR1c.5533G>A (p.Val1845Met)
c.5530G>A (p.Val1844Met)
n.5616G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38486188G>CCA405656049RYR1c.5533G>C (p.Val1845Leu)
c.5530G>C (p.Val1844Leu)
n.5616G>C
 ClinVar dbSNP
19g.38486188G=CA2335046453RYR1c.5533G= (p.Val1845=)
c.5530G= (p.Val1844=)
n.5616G=
19g.38486188G>TCA405656053RYR1c.5533G>T (p.Val1845Leu)
c.5530G>T (p.Val1844Leu)
n.5616G>T
 dbSNP
19g.38486189T>ACA405656058RYR1c.5534T>A (p.Val1845Glu)
c.5531T>A (p.Val1844Glu)
n.5617T>A
19g.38486189T>CCA405656059RYR1c.5534T>C (p.Val1845Ala)
c.5531T>C (p.Val1844Ala)
n.5617T>C
 gnomAD v4
19g.38486189T>GCA405656060RYR1c.5534T>G (p.Val1845Gly)
c.5531T>G (p.Val1844Gly)
n.5617T>G
19g.38486190G>ACA507353573RYR1c.5535G>A (p.Val1845=)
c.5532G>A (p.Val1844=)
n.5618G>A
 dbSNP gnomAD v2 gnomAD v4
19g.38486190G>CCA507353574RYR1c.5535G>C (p.Val1845=)
c.5532G>C (p.Val1844=)
n.5618G>C
19g.38486190G=CA2335046454RYR1c.5535G= (p.Val1845=)
c.5532G= (p.Val1844=)
n.5618G=
19g.38486190G>TCA507353576RYR1c.5535G>T (p.Val1845=)
c.5532G>T (p.Val1844=)
n.5618G>T
19g.38486191T>ACA405656061RYR1c.5536T>A (p.Ser1846Thr)
c.5533T>A (p.Ser1845Thr)
n.5619T>A
19g.38486191T>CCA405656063RYR1c.5536T>C (p.Ser1846Pro)
c.5533T>C (p.Ser1845Pro)
n.5619T>C
19g.38486191T>GCA405656066RYR1c.5536T>G (p.Ser1846Ala)
c.5533T>G (p.Ser1845Ala)
n.5619T>G
19g.38486192C>ACA405656070RYR1c.5537C>A (p.Ser1846Tyr)
c.5534C>A (p.Ser1845Tyr)
n.5620C>A
19g.38486192C=CA2335046455RYR1c.5537C= (p.Ser1846=)
c.5534C= (p.Ser1845=)
n.5620C=
19g.38486192C>GCA405656072RYR1c.5537C>G (p.Ser1846Cys)
c.5534C>G (p.Ser1845Cys)
n.5620C>G
19g.38486192C>TCA405656074RYR1c.5537C>T (p.Ser1846Phe)
c.5534C>T (p.Ser1845Phe)
n.5620C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38486192_38486193delCA2584898026RYR1c.5537_5538del (p.Ser1846TyrfsTer11)
c.5534_5535del (p.Ser1845TyrfsTer11)
n.5620_5621del
 gnomAD v4
19g.38486193C>ACA507353584RYR1c.5538C>A (p.Ser1846=)
c.5535C>A (p.Ser1845=)
n.5621C>A
19g.38486193C>GCA507353585RYR1c.5538C>G (p.Ser1846=)
c.5535C>G (p.Ser1845=)
n.5621C>G
19g.38486193C>TCA507353586RYR1c.5538C>T (p.Ser1846=)
c.5535C>T (p.Ser1845=)
n.5621C>T
19g.38486194A>CCA405656080RYR1c.5539A>C (p.Thr1847Pro)
c.5536A>C (p.Thr1846Pro)
n.5622A>C
19g.38486194A>GCA405656083RYR1c.5539A>G (p.Thr1847Ala)
c.5536A>G (p.Thr1846Ala)
n.5622A>G
 gnomAD v4 COSMIC
19g.38486194A>TCA405656077RYR1c.5539A>T (p.Thr1847Ser)
c.5536A>T (p.Thr1846Ser)
n.5622A>T
19g.38486194_38486195insATGGCA2584898027RYR1c.5539_5540insATGG (p.Thr1847AsnfsTer12)
c.5536_5537insATGG (p.Thr1846AsnfsTer12)
n.5622_5623insATGG
 gnomAD v4
19g.38486195C>ACA405656087RYR1c.5540C>A (p.Thr1847Asn)
c.5537C>A (p.Thr1846Asn)
n.5623C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38486195C=CA2335046456RYR1c.5540C= (p.Thr1847=)
c.5537C= (p.Thr1846=)
n.5623C=
19g.38486195C>GCA405656091RYR1c.5540C>G (p.Thr1847Ser)
c.5537C>G (p.Thr1846Ser)
n.5623C>G
19g.38486195C>TCA405656094RYR1c.5540C>T (p.Thr1847Ile)
c.5537C>T (p.Thr1846Ile)
n.5623C>T
19g.38486195_38486196insTCA2584898028RYR1c.5540_5541insT (p.Leu1848ProfsTer10)
c.5537_5538insT (p.Leu1847ProfsTer10)
n.5623_5624insT
 gnomAD v4
19g.38486196C>ACA507353591RYR1c.5541C>A (p.Thr1847=)
c.5538C>A (p.Thr1846=)
n.5624C>A
 dbSNP gnomAD v2 gnomAD v4
19g.38486196C=CA2335046457RYR1c.5541C= (p.Thr1847=)
c.5538C= (p.Thr1846=)
n.5624C=
19g.38486196C>GCA507353592RYR1c.5541C>G (p.Thr1847=)
c.5538C>G (p.Thr1846=)
n.5624C>G
19g.38486196C>TCA507353593RYR1c.5541C>T (p.Thr1847=)
c.5538C>T (p.Thr1846=)
n.5624C>T
 gnomAD v4 COSMIC
19g.38486197C>ACA405656097RYR1c.5542C>A (p.Leu1848Met)
c.5539C>A (p.Leu1847Met)
n.5625C>A
19g.38486197C=CA2335046458RYR1c.5542C= (p.Leu1848=)
c.5539C= (p.Leu1847=)
n.5625C=
19g.38486197C>GCA405656101RYR1c.5542C>G (p.Leu1848Val)
c.5539C>G (p.Leu1847Val)
n.5625C>G
 gnomAD v4
19g.38486197C>TCA507353594RYR1c.5542C>T (p.Leu1848=)
c.5539C>T (p.Leu1847=)
n.5625C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched