Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.237627988C>ACA423821906RYR2c.6348C>A (p.Thr2116=)
c.6300C>A (p.Thr2100=)
c.6378C>A (p.Thr2126=)
c.6375C>A (p.Thr2125=)
c.6345C>A (p.Thr2115=)
n.6659C>A
c.6357C>A (p.Thr2119=)
n.6692C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.237627988C=CA2487418007RYR2c.6348C= (p.Thr2116=)
c.6300C= (p.Thr2100=)
c.6378C= (p.Thr2126=)
c.6375C= (p.Thr2125=)
c.6345C= (p.Thr2115=)
n.6659C=
c.6357C= (p.Thr2119=)
n.6692C=
1g.237627988C>GCA423821907RYR2c.6348C>G (p.Thr2116=)
c.6300C>G (p.Thr2100=)
c.6378C>G (p.Thr2126=)
c.6375C>G (p.Thr2125=)
c.6345C>G (p.Thr2115=)
n.6659C>G
c.6357C>G (p.Thr2119=)
n.6692C>G
1g.237627988C>TCA423821908RYR2c.6348C>T (p.Thr2116=)
c.6300C>T (p.Thr2100=)
c.6378C>T (p.Thr2126=)
c.6375C>T (p.Thr2125=)
c.6345C>T (p.Thr2115=)
n.6659C>T
c.6357C>T (p.Thr2119=)
n.6692C>T
 dbSNP
1g.237627989A=CA2487418008RYR2c.6349A= (p.Ile2117=)
c.6301A= (p.Ile2101=)
c.6379A= (p.Ile2127=)
c.6376A= (p.Ile2126=)
c.6346A= (p.Ile2116=)
n.6660A=
c.6358A= (p.Ile2120=)
n.6693A=
1g.237627989A>CCA345411359RYR2c.6349A>C (p.Ile2117Leu)
c.6301A>C (p.Ile2101Leu)
c.6379A>C (p.Ile2127Leu)
c.6376A>C (p.Ile2126Leu)
c.6346A>C (p.Ile2116Leu)
n.6660A>C
c.6358A>C (p.Ile2120Leu)
n.6693A>C
 gnomAD v4
1g.237627989A>GCA39839686RYR2c.6349A>G (p.Ile2117Val)
c.6301A>G (p.Ile2101Val)
c.6379A>G (p.Ile2127Val)
c.6376A>G (p.Ile2126Val)
c.6346A>G (p.Ile2116Val)
n.6660A>G
c.6358A>G (p.Ile2120Val)
n.6693A>G
 ClinVar dbSNP COSMIC
1g.237627989A>TCA345411360RYR2c.6349A>T (p.Ile2117Phe)
c.6301A>T (p.Ile2101Phe)
c.6379A>T (p.Ile2127Phe)
c.6376A>T (p.Ile2126Phe)
c.6346A>T (p.Ile2116Phe)
n.6660A>T
c.6358A>T (p.Ile2120Phe)
n.6693A>T
1g.237627990T>ACA345411361RYR2c.6350T>A (p.Ile2117Asn)
c.6302T>A (p.Ile2101Asn)
c.6380T>A (p.Ile2127Asn)
c.6377T>A (p.Ile2126Asn)
c.6347T>A (p.Ile2116Asn)
n.6661T>A
c.6359T>A (p.Ile2120Asn)
n.6694T>A
1g.237627990T>CCA345411362RYR2c.6350T>C (p.Ile2117Thr)
c.6302T>C (p.Ile2101Thr)
c.6380T>C (p.Ile2127Thr)
c.6377T>C (p.Ile2126Thr)
c.6347T>C (p.Ile2116Thr)
n.6661T>C
c.6359T>C (p.Ile2120Thr)
n.6694T>C
 gnomAD v4
1g.237627990T>GCA345411363RYR2c.6350T>G (p.Ile2117Ser)
c.6302T>G (p.Ile2101Ser)
c.6380T>G (p.Ile2127Ser)
c.6377T>G (p.Ile2126Ser)
c.6347T>G (p.Ile2116Ser)
n.6661T>G
c.6359T>G (p.Ile2120Ser)
n.6694T>G
1g.237627991C>ACA423821909RYR2c.6351C>A (p.Ile2117=)
c.6303C>A (p.Ile2101=)
c.6381C>A (p.Ile2127=)
c.6378C>A (p.Ile2126=)
c.6348C>A (p.Ile2116=)
n.6662C>A
c.6360C>A (p.Ile2120=)
n.6695C>A
1g.237627991C>GCA345411364RYR2c.6351C>G (p.Ile2117Met)
c.6303C>G (p.Ile2101Met)
c.6381C>G (p.Ile2127Met)
c.6378C>G (p.Ile2126Met)
c.6348C>G (p.Ile2116Met)
n.6662C>G
c.6360C>G (p.Ile2120Met)
n.6695C>G
1g.237627991C>TCA423821910RYR2c.6351C>T (p.Ile2117=)
c.6303C>T (p.Ile2101=)
c.6381C>T (p.Ile2127=)
c.6378C>T (p.Ile2126=)
c.6348C>T (p.Ile2116=)
n.6662C>T
c.6360C>T (p.Ile2120=)
n.6695C>T
1g.237627992A>CCA345411365RYR2c.6352A>C (p.Asn2118His)
c.6304A>C (p.Asn2102His)
c.6382A>C (p.Asn2128His)
c.6379A>C (p.Asn2127His)
c.6349A>C (p.Asn2117His)
n.6663A>C
c.6361A>C (p.Asn2121His)
n.6696A>C
1g.237627992A>GCA345411367RYR2c.6352A>G (p.Asn2118Asp)
c.6304A>G (p.Asn2102Asp)
c.6382A>G (p.Asn2128Asp)
c.6379A>G (p.Asn2127Asp)
c.6349A>G (p.Asn2117Asp)
n.6663A>G
c.6361A>G (p.Asn2121Asp)
n.6696A>G
 gnomAD v4
1g.237627992A>TCA345411366RYR2c.6352A>T (p.Asn2118Tyr)
c.6304A>T (p.Asn2102Tyr)
c.6382A>T (p.Asn2128Tyr)
c.6379A>T (p.Asn2127Tyr)
c.6349A>T (p.Asn2117Tyr)
n.6663A>T
c.6361A>T (p.Asn2121Tyr)
n.6696A>T
1g.237627993A>CCA345411368RYR2c.6353A>C (p.Asn2118Thr)
c.6305A>C (p.Asn2102Thr)
c.6383A>C (p.Asn2128Thr)
c.6380A>C (p.Asn2127Thr)
c.6350A>C (p.Asn2117Thr)
n.6664A>C
c.6362A>C (p.Asn2121Thr)
n.6697A>C
1g.237627993A>GCA345411369RYR2c.6353A>G (p.Asn2118Ser)
c.6305A>G (p.Asn2102Ser)
c.6383A>G (p.Asn2128Ser)
c.6380A>G (p.Asn2127Ser)
c.6350A>G (p.Asn2117Ser)
n.6664A>G
c.6362A>G (p.Asn2121Ser)
n.6697A>G
1g.237627993A>TCA345411370RYR2c.6353A>T (p.Asn2118Ile)
c.6305A>T (p.Asn2102Ile)
c.6383A>T (p.Asn2128Ile)
c.6380A>T (p.Asn2127Ile)
c.6350A>T (p.Asn2117Ile)
n.6664A>T
c.6362A>T (p.Asn2121Ile)
n.6697A>T
 COSMIC COSMIC
1g.237627994C>ACA345411371RYR2c.6354C>A (p.Asn2118Lys)
c.6306C>A (p.Asn2102Lys)
c.6384C>A (p.Asn2128Lys)
c.6381C>A (p.Asn2127Lys)
c.6351C>A (p.Asn2117Lys)
n.6665C>A
c.6363C>A (p.Asn2121Lys)
n.6698C>A
1g.237627994C>GCA345411372RYR2c.6354C>G (p.Asn2118Lys)
c.6306C>G (p.Asn2102Lys)
c.6384C>G (p.Asn2128Lys)
c.6381C>G (p.Asn2127Lys)
c.6351C>G (p.Asn2117Lys)
n.6665C>G
c.6363C>G (p.Asn2121Lys)
n.6698C>G
1g.237627994C>TCA423821911RYR2c.6354C>T (p.Asn2118=)
c.6306C>T (p.Asn2102=)
c.6384C>T (p.Asn2128=)
c.6381C>T (p.Asn2127=)
c.6351C>T (p.Asn2117=)
n.6665C>T
c.6363C>T (p.Asn2121=)
n.6698C>T
 gnomAD v4
1g.237627995C>ACA345411373RYR2c.6355C>A (p.Leu2119Met)
c.6307C>A (p.Leu2103Met)
c.6385C>A (p.Leu2129Met)
c.6382C>A (p.Leu2128Met)
c.6352C>A (p.Leu2118Met)
n.6666C>A
c.6364C>A (p.Leu2122Met)
n.6699C>A
1g.237627995C>GCA345411374RYR2c.6355C>G (p.Leu2119Val)
c.6307C>G (p.Leu2103Val)
c.6385C>G (p.Leu2129Val)
c.6382C>G (p.Leu2128Val)
c.6352C>G (p.Leu2118Val)
n.6666C>G
c.6364C>G (p.Leu2122Val)
n.6699C>G
1g.237627995C>TCA423821912RYR2c.6355C>T (p.Leu2119=)
c.6307C>T (p.Leu2103=)
c.6385C>T (p.Leu2129=)
c.6382C>T (p.Leu2128=)
c.6352C>T (p.Leu2118=)
n.6666C>T
c.6364C>T (p.Leu2122=)
n.6699C>T
1g.237627996T>ACA345411375RYR2c.6356T>A (p.Leu2119Gln)
c.6308T>A (p.Leu2103Gln)
c.6386T>A (p.Leu2129Gln)
c.6383T>A (p.Leu2128Gln)
c.6353T>A (p.Leu2118Gln)
n.6667T>A
c.6365T>A (p.Leu2122Gln)
n.6700T>A
1g.237627996T>CCA087096RYR2c.6356T>C (p.Leu2119Pro)
c.6308T>C (p.Leu2103Pro)
c.6386T>C (p.Leu2129Pro)
c.6383T>C (p.Leu2128Pro)
c.6353T>C (p.Leu2118Pro)
n.6667T>C
c.6365T>C (p.Leu2122Pro)
n.6700T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237627996T>GCA345411376RYR2c.6356T>G (p.Leu2119Arg)
c.6308T>G (p.Leu2103Arg)
c.6386T>G (p.Leu2129Arg)
c.6383T>G (p.Leu2128Arg)
c.6353T>G (p.Leu2118Arg)
n.6667T>G
c.6365T>G (p.Leu2122Arg)
n.6700T>G
1g.237627996T=CA1148721206RYR2c.6356T= (p.Leu2119=)
c.6308T= (p.Leu2103=)
c.6386T= (p.Leu2129=)
c.6383T= (p.Leu2128=)
c.6353T= (p.Leu2118=)
n.6667T=
c.6365T= (p.Leu2122=)
n.6700T=
1g.237627997G>ACA423821913RYR2c.6357G>A (p.Leu2119=)
c.6309G>A (p.Leu2103=)
c.6387G>A (p.Leu2129=)
c.6384G>A (p.Leu2128=)
c.6354G>A (p.Leu2118=)
n.6668G>A
c.6366G>A (p.Leu2122=)
n.6701G>A
1g.237627997G>CCA423821914RYR2c.6357G>C (p.Leu2119=)
c.6309G>C (p.Leu2103=)
c.6387G>C (p.Leu2129=)
c.6384G>C (p.Leu2128=)
c.6354G>C (p.Leu2118=)
n.6668G>C
c.6366G>C (p.Leu2122=)
n.6701G>C
1g.237627997G>TCA423821915RYR2c.6357G>T (p.Leu2119=)
c.6309G>T (p.Leu2103=)
c.6387G>T (p.Leu2129=)
c.6384G>T (p.Leu2128=)
c.6354G>T (p.Leu2118=)
n.6668G>T
c.6366G>T (p.Leu2122=)
n.6701G>T
1g.237627998C>ACA345411377RYR2c.6358C>A (p.Leu2120Met)
c.6310C>A (p.Leu2104Met)
c.6388C>A (p.Leu2130Met)
c.6385C>A (p.Leu2129Met)
c.6355C>A (p.Leu2119Met)
n.6669C>A
c.6367C>A (p.Leu2123Met)
n.6702C>A
 dbSNP gnomAD v2 gnomAD v4
1g.237627998C=CA2487418009RYR2c.6358C= (p.Leu2120=)
c.6310C= (p.Leu2104=)
c.6388C= (p.Leu2130=)
c.6385C= (p.Leu2129=)
c.6355C= (p.Leu2119=)
n.6669C=
c.6367C= (p.Leu2123=)
n.6702C=
1g.237627998C>GCA345411378RYR2c.6358C>G (p.Leu2120Val)
c.6310C>G (p.Leu2104Val)
c.6388C>G (p.Leu2130Val)
c.6385C>G (p.Leu2129Val)
c.6355C>G (p.Leu2119Val)
n.6669C>G
c.6367C>G (p.Leu2123Val)
n.6702C>G
1g.237627998C>TCA423821916RYR2c.6358C>T (p.Leu2120=)
c.6310C>T (p.Leu2104=)
c.6388C>T (p.Leu2130=)
c.6385C>T (p.Leu2129=)
c.6355C>T (p.Leu2119=)
n.6669C>T
c.6367C>T (p.Leu2123=)
n.6702C>T
 gnomAD v4
1g.237627999T>ACA345411379RYR2c.6359T>A (p.Leu2120Gln)
c.6311T>A (p.Leu2104Gln)
c.6389T>A (p.Leu2130Gln)
c.6386T>A (p.Leu2129Gln)
c.6356T>A (p.Leu2119Gln)
n.6670T>A
c.6368T>A (p.Leu2123Gln)
n.6703T>A
1g.237627999T>CCA345411381RYR2c.6359T>C (p.Leu2120Pro)
c.6311T>C (p.Leu2104Pro)
c.6389T>C (p.Leu2130Pro)
c.6386T>C (p.Leu2129Pro)
c.6356T>C (p.Leu2119Pro)
n.6670T>C
c.6368T>C (p.Leu2123Pro)
n.6703T>C
1g.237627999T>GCA345411380RYR2c.6359T>G (p.Leu2120Arg)
c.6311T>G (p.Leu2104Arg)
c.6389T>G (p.Leu2130Arg)
c.6386T>G (p.Leu2129Arg)
c.6356T>G (p.Leu2119Arg)
n.6670T>G
c.6368T>G (p.Leu2123Arg)
n.6703T>G
1g.237628000G>ACA423821919RYR2c.6360G>A (p.Leu2120=)
c.6312G>A (p.Leu2104=)
c.6390G>A (p.Leu2130=)
c.6387G>A (p.Leu2129=)
c.6357G>A (p.Leu2119=)
n.6671G>A
c.6369G>A (p.Leu2123=)
n.6704G>A
 gnomAD v4
1g.237628000G>CCA423821918RYR2c.6360G>C (p.Leu2120=)
c.6312G>C (p.Leu2104=)
c.6390G>C (p.Leu2130=)
c.6387G>C (p.Leu2129=)
c.6357G>C (p.Leu2119=)
n.6671G>C
c.6369G>C (p.Leu2123=)
n.6704G>C
1g.237628000G>TCA423821917RYR2c.6360G>T (p.Leu2120=)
c.6312G>T (p.Leu2104=)
c.6390G>T (p.Leu2130=)
c.6387G>T (p.Leu2129=)
c.6357G>T (p.Leu2119=)
n.6671G>T
c.6369G>T (p.Leu2123=)
n.6704G>T
 gnomAD v4
1g.237628001G>ACA345411382RYR2c.6361G>A (p.Ala2121Thr)
c.6313G>A (p.Ala2105Thr)
c.6391G>A (p.Ala2131Thr)
c.6388G>A (p.Ala2130Thr)
c.6358G>A (p.Ala2120Thr)
n.6672G>A
c.6370G>A (p.Ala2124Thr)
n.6705G>A
1g.237628001G>CCA345411383RYR2c.6361G>C (p.Ala2121Pro)
c.6313G>C (p.Ala2105Pro)
c.6391G>C (p.Ala2131Pro)
c.6388G>C (p.Ala2130Pro)
c.6358G>C (p.Ala2120Pro)
n.6672G>C
c.6370G>C (p.Ala2124Pro)
n.6705G>C
1g.237628001G>TCA345411384RYR2c.6361G>T (p.Ala2121Ser)
c.6313G>T (p.Ala2105Ser)
c.6391G>T (p.Ala2131Ser)
c.6388G>T (p.Ala2130Ser)
c.6358G>T (p.Ala2120Ser)
n.6672G>T
c.6370G>T (p.Ala2124Ser)
n.6705G>T
 gnomAD v4
1g.237628002C>ACA345411385RYR2c.6362C>A (p.Ala2121Glu)
c.6314C>A (p.Ala2105Glu)
c.6392C>A (p.Ala2131Glu)
c.6389C>A (p.Ala2130Glu)
c.6359C>A (p.Ala2120Glu)
n.6673C>A
c.6371C>A (p.Ala2124Glu)
n.6706C>A
1g.237628002C>GCA345411386RYR2c.6362C>G (p.Ala2121Gly)
c.6314C>G (p.Ala2105Gly)
c.6392C>G (p.Ala2131Gly)
c.6389C>G (p.Ala2130Gly)
c.6359C>G (p.Ala2120Gly)
n.6673C>G
c.6371C>G (p.Ala2124Gly)
n.6706C>G
1g.237628002C>TCA074840RYR2c.6362C>T (p.Ala2121Val)
c.6314C>T (p.Ala2105Val)
c.6392C>T (p.Ala2131Val)
c.6389C>T (p.Ala2130Val)
c.6359C>T (p.Ala2120Val)
n.6673C>T
c.6371C>T (p.Ala2124Val)
n.6706C>T
 gnomAD v4
1g.237628003A>CCA423821920RYR2c.6363A>C (p.Ala2121=)
c.6315A>C (p.Ala2105=)
c.6393A>C (p.Ala2131=)
c.6390A>C (p.Ala2130=)
c.6360A>C (p.Ala2120=)
n.6674A>C
c.6372A>C (p.Ala2124=)
n.6707A>C
 gnomAD v4
1g.237628003A>GCA423821921RYR2c.6363A>G (p.Ala2121=)
c.6315A>G (p.Ala2105=)
c.6393A>G (p.Ala2131=)
c.6390A>G (p.Ala2130=)
c.6360A>G (p.Ala2120=)
n.6674A>G
c.6372A>G (p.Ala2124=)
n.6707A>G
1g.237628003A>TCA423821922RYR2c.6363A>T (p.Ala2121=)
c.6315A>T (p.Ala2105=)
c.6393A>T (p.Ala2131=)
c.6390A>T (p.Ala2130=)
c.6360A>T (p.Ala2120=)
n.6674A>T
c.6372A>T (p.Ala2124=)
n.6707A>T
 gnomAD v4
1g.237628004T>ACA345411387RYR2c.6364T>A (p.Ser2122Thr)
c.6316T>A (p.Ser2106Thr)
c.6394T>A (p.Ser2132Thr)
c.6391T>A (p.Ser2131Thr)
c.6361T>A (p.Ser2121Thr)
n.6675T>A
c.6373T>A (p.Ser2125Thr)
n.6708T>A
1g.237628004T>CCA345411388RYR2c.6364T>C (p.Ser2122Pro)
c.6316T>C (p.Ser2106Pro)
c.6394T>C (p.Ser2132Pro)
c.6391T>C (p.Ser2131Pro)
c.6361T>C (p.Ser2121Pro)
n.6675T>C
c.6373T>C (p.Ser2125Pro)
n.6708T>C
1g.237628004T>GCA345411389RYR2c.6364T>G (p.Ser2122Ala)
c.6316T>G (p.Ser2106Ala)
c.6394T>G (p.Ser2132Ala)
c.6391T>G (p.Ser2131Ala)
c.6361T>G (p.Ser2121Ala)
n.6675T>G
c.6373T>G (p.Ser2125Ala)
n.6708T>G
1g.237628005C>ACA345411390RYR2c.6365C>A (p.Ser2122Tyr)
c.6317C>A (p.Ser2106Tyr)
c.6395C>A (p.Ser2132Tyr)
c.6392C>A (p.Ser2131Tyr)
c.6362C>A (p.Ser2121Tyr)
n.6676C>A
c.6374C>A (p.Ser2125Tyr)
n.6709C>A
 COSMIC COSMIC
1g.237628005C>GCA345411391RYR2c.6365C>G (p.Ser2122Cys)
c.6317C>G (p.Ser2106Cys)
c.6395C>G (p.Ser2132Cys)
c.6392C>G (p.Ser2131Cys)
c.6362C>G (p.Ser2121Cys)
n.6676C>G
c.6374C>G (p.Ser2125Cys)
n.6709C>G
1g.237628005C>TCA345411392RYR2c.6365C>T (p.Ser2122Phe)
c.6317C>T (p.Ser2106Phe)
c.6395C>T (p.Ser2132Phe)
c.6392C>T (p.Ser2131Phe)
c.6362C>T (p.Ser2121Phe)
n.6676C>T
c.6374C>T (p.Ser2125Phe)
n.6709C>T
1g.237628006C>ACA423821923RYR2c.6366C>A (p.Ser2122=)
c.6318C>A (p.Ser2106=)
c.6396C>A (p.Ser2132=)
c.6393C>A (p.Ser2131=)
c.6363C>A (p.Ser2121=)
n.6677C>A
c.6375C>A (p.Ser2125=)
n.6710C>A
 COSMIC COSMIC
1g.237628006C>GCA423821925RYR2c.6366C>G (p.Ser2122=)
c.6318C>G (p.Ser2106=)
c.6396C>G (p.Ser2132=)
c.6393C>G (p.Ser2131=)
c.6363C>G (p.Ser2121=)
n.6677C>G
c.6375C>G (p.Ser2125=)
n.6710C>G
1g.237628006C>TCA423821924RYR2c.6366C>T (p.Ser2122=)
c.6318C>T (p.Ser2106=)
c.6396C>T (p.Ser2132=)
c.6393C>T (p.Ser2131=)
c.6363C>T (p.Ser2121=)
n.6677C>T
c.6375C>T (p.Ser2125=)
n.6710C>T
 COSMIC COSMIC
1g.237628007C>ACA345411394RYR2c.6367C>A (p.Leu2123Ile)
c.6319C>A (p.Leu2107Ile)
c.6397C>A (p.Leu2133Ile)
c.6394C>A (p.Leu2132Ile)
c.6364C>A (p.Leu2122Ile)
n.6678C>A
c.6376C>A (p.Leu2126Ile)
n.6711C>A
1g.237628007C=CA2487418010RYR2c.6367C= (p.Leu2123=)
c.6319C= (p.Leu2107=)
c.6397C= (p.Leu2133=)
c.6394C= (p.Leu2132=)
c.6364C= (p.Leu2122=)
n.6678C=
c.6376C= (p.Leu2126=)
n.6711C=
1g.237628007C>GCA345411393RYR2c.6367C>G (p.Leu2123Val)
c.6319C>G (p.Leu2107Val)
c.6397C>G (p.Leu2133Val)
c.6394C>G (p.Leu2132Val)
c.6364C>G (p.Leu2122Val)
n.6678C>G
c.6376C>G (p.Leu2126Val)
n.6711C>G
1g.237628007C>TCA16610076RYR2c.6367C>T (p.Leu2123Phe)
c.6319C>T (p.Leu2107Phe)
c.6397C>T (p.Leu2133Phe)
c.6394C>T (p.Leu2132Phe)
c.6364C>T (p.Leu2122Phe)
n.6678C>T
c.6376C>T (p.Leu2126Phe)
n.6711C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.237628008T>ACA345411395RYR2c.6368T>A (p.Leu2123His)
c.6320T>A (p.Leu2107His)
c.6398T>A (p.Leu2133His)
c.6395T>A (p.Leu2132His)
c.6365T>A (p.Leu2122His)
n.6679T>A
c.6377T>A (p.Leu2126His)
n.6712T>A
1g.237628008T>CCA345411396RYR2c.6368T>C (p.Leu2123Pro)
c.6320T>C (p.Leu2107Pro)
c.6398T>C (p.Leu2133Pro)
c.6395T>C (p.Leu2132Pro)
c.6365T>C (p.Leu2122Pro)
n.6679T>C
c.6377T>C (p.Leu2126Pro)
n.6712T>C
1g.237628008T>GCA345411397RYR2c.6368T>G (p.Leu2123Arg)
c.6320T>G (p.Leu2107Arg)
c.6398T>G (p.Leu2133Arg)
c.6395T>G (p.Leu2132Arg)
c.6365T>G (p.Leu2122Arg)
n.6679T>G
c.6377T>G (p.Leu2126Arg)
n.6712T>G
1g.237628009T>ACA423821926RYR2c.6369T>A (p.Leu2123=)
c.6321T>A (p.Leu2107=)
c.6399T>A (p.Leu2133=)
c.6396T>A (p.Leu2132=)
c.6366T>A (p.Leu2122=)
n.6680T>A
c.6378T>A (p.Leu2126=)
n.6713T>A
1g.237628009T>CCA074846RYR2c.6369T>C (p.Leu2123=)
c.6321T>C (p.Leu2107=)
c.6399T>C (p.Leu2133=)
c.6396T>C (p.Leu2132=)
c.6366T>C (p.Leu2122=)
n.6680T>C
c.6378T>C (p.Leu2126=)
n.6713T>C
 ClinVar dbSNP gnomAD v4
1g.237628009T>GCA423821927RYR2c.6369T>G (p.Leu2123=)
c.6321T>G (p.Leu2107=)
c.6399T>G (p.Leu2133=)
c.6396T>G (p.Leu2132=)
c.6366T>G (p.Leu2122=)
n.6680T>G
c.6378T>G (p.Leu2126=)
n.6713T>G
 dbSNP
1g.237628009T=CA2487418011RYR2c.6369T= (p.Leu2123=)
c.6321T= (p.Leu2107=)
c.6399T= (p.Leu2133=)
c.6396T= (p.Leu2132=)
c.6366T= (p.Leu2122=)
n.6680T=
c.6378T= (p.Leu2126=)
n.6713T=
1g.237628010G>ACA345411398RYR2c.6370G>A (p.Gly2124Ser)
c.6322G>A (p.Gly2108Ser)
c.6400G>A (p.Gly2134Ser)
c.6397G>A (p.Gly2133Ser)
c.6367G>A (p.Gly2123Ser)
n.6681G>A
c.6379G>A (p.Gly2127Ser)
n.6714G>A
1g.237628010G>CCA345411399RYR2c.6370G>C (p.Gly2124Arg)
c.6322G>C (p.Gly2108Arg)
c.6400G>C (p.Gly2134Arg)
c.6397G>C (p.Gly2133Arg)
c.6367G>C (p.Gly2123Arg)
n.6681G>C
c.6379G>C (p.Gly2127Arg)
n.6714G>C
1g.237628010G>TCA345411400RYR2c.6370G>T (p.Gly2124Cys)
c.6322G>T (p.Gly2108Cys)
c.6400G>T (p.Gly2134Cys)
c.6397G>T (p.Gly2133Cys)
c.6367G>T (p.Gly2123Cys)
n.6681G>T
c.6379G>T (p.Gly2127Cys)
n.6714G>T
1g.237628011G>ACA345411401RYR2c.6371G>A (p.Gly2124Asp)
c.6323G>A (p.Gly2108Asp)
c.6401G>A (p.Gly2134Asp)
c.6398G>A (p.Gly2133Asp)
c.6368G>A (p.Gly2123Asp)
n.6682G>A
c.6380G>A (p.Gly2127Asp)
n.6715G>A
1g.237628011G>CCA345411402RYR2c.6371G>C (p.Gly2124Ala)
c.6323G>C (p.Gly2108Ala)
c.6401G>C (p.Gly2134Ala)
c.6398G>C (p.Gly2133Ala)
c.6368G>C (p.Gly2123Ala)
n.6682G>C
c.6380G>C (p.Gly2127Ala)
n.6715G>C
1g.237628011G>TCA345411403RYR2c.6371G>T (p.Gly2124Val)
c.6323G>T (p.Gly2108Val)
c.6401G>T (p.Gly2134Val)
c.6398G>T (p.Gly2133Val)
c.6368G>T (p.Gly2123Val)
n.6682G>T
c.6380G>T (p.Gly2127Val)
n.6715G>T
 gnomAD v4
1g.237628012T>ACA423821928RYR2c.6372T>A (p.Gly2124=)
c.6324T>A (p.Gly2108=)
c.6402T>A (p.Gly2134=)
c.6399T>A (p.Gly2133=)
c.6369T>A (p.Gly2123=)
n.6683T>A
c.6381T>A (p.Gly2127=)
n.6716T>A
1g.237628012T>CCA423821930RYR2c.6372T>C (p.Gly2124=)
c.6324T>C (p.Gly2108=)
c.6402T>C (p.Gly2134=)
c.6399T>C (p.Gly2133=)
c.6369T>C (p.Gly2123=)
n.6683T>C
c.6381T>C (p.Gly2127=)
n.6716T>C
1g.237628012T>GCA423821929RYR2c.6372T>G (p.Gly2124=)
c.6324T>G (p.Gly2108=)
c.6402T>G (p.Gly2134=)
c.6399T>G (p.Gly2133=)
c.6369T>G (p.Gly2123=)
n.6683T>G
c.6381T>G (p.Gly2127=)
n.6716T>G
1g.237628013C>ACA345411404RYR2c.6373C>A (p.Gln2125Lys)
c.6325C>A (p.Gln2109Lys)
c.6403C>A (p.Gln2135Lys)
c.6400C>A (p.Gln2134Lys)
c.6370C>A (p.Gln2124Lys)
n.6684C>A
c.6382C>A (p.Gln2128Lys)
n.6717C>A
1g.237628013C>GCA345411405RYR2c.6373C>G (p.Gln2125Glu)
c.6325C>G (p.Gln2109Glu)
c.6403C>G (p.Gln2135Glu)
c.6400C>G (p.Gln2134Glu)
c.6370C>G (p.Gln2124Glu)
n.6684C>G
c.6382C>G (p.Gln2128Glu)
n.6717C>G
1g.237628013C>TCA345411406RYR2c.6373C>T (p.Gln2125Ter)
c.6325C>T (p.Gln2109Ter)
c.6403C>T (p.Gln2135Ter)
c.6400C>T (p.Gln2134Ter)
c.6370C>T (p.Gln2124Ter)
n.6684C>T
c.6382C>T (p.Gln2128Ter)
n.6717C>T
1g.237628014A=CA2487418012RYR2c.6374A= (p.Gln2125=)
c.6326A= (p.Gln2109=)
c.6404A= (p.Gln2135=)
c.6401A= (p.Gln2134=)
c.6371A= (p.Gln2124=)
n.6685A=
c.6383A= (p.Gln2128=)
n.6718A=
1g.237628014A>CCA345411407RYR2c.6374A>C (p.Gln2125Pro)
c.6326A>C (p.Gln2109Pro)
c.6404A>C (p.Gln2135Pro)
c.6401A>C (p.Gln2134Pro)
c.6371A>C (p.Gln2124Pro)
n.6685A>C
c.6383A>C (p.Gln2128Pro)
n.6718A>C
1g.237628014A>GCA345411409RYR2c.6374A>G (p.Gln2125Arg)
c.6326A>G (p.Gln2109Arg)
c.6404A>G (p.Gln2135Arg)
c.6401A>G (p.Gln2134Arg)
c.6371A>G (p.Gln2124Arg)
n.6685A>G
c.6383A>G (p.Gln2128Arg)
n.6718A>G
 dbSNP gnomAD v2 gnomAD v4
1g.237628014A>TCA345411408RYR2c.6374A>T (p.Gln2125Leu)
c.6326A>T (p.Gln2109Leu)
c.6404A>T (p.Gln2135Leu)
c.6401A>T (p.Gln2134Leu)
c.6371A>T (p.Gln2124Leu)
n.6685A>T
c.6383A>T (p.Gln2128Leu)
n.6718A>T
1g.237628015G>ACA423821931RYR2c.6375G>A (p.Gln2125=)
c.6327G>A (p.Gln2109=)
c.6405G>A (p.Gln2135=)
c.6402G>A (p.Gln2134=)
c.6372G>A (p.Gln2124=)
n.6686G>A
c.6384G>A (p.Gln2128=)
n.6719G>A
1g.237628015G>CCA345411410RYR2c.6375G>C (p.Gln2125His)
c.6327G>C (p.Gln2109His)
c.6405G>C (p.Gln2135His)
c.6402G>C (p.Gln2134His)
c.6372G>C (p.Gln2124His)
n.6686G>C
c.6384G>C (p.Gln2128His)
n.6719G>C
1g.237628015G>TCA345411411RYR2c.6375G>T (p.Gln2125His)
c.6327G>T (p.Gln2109His)
c.6405G>T (p.Gln2135His)
c.6402G>T (p.Gln2134His)
c.6372G>T (p.Gln2124His)
n.6686G>T
c.6384G>T (p.Gln2128His)
n.6719G>T
1g.237628016A>CCA345411412RYR2c.6376A>C (p.Ile2126Leu)
c.6328A>C (p.Ile2110Leu)
c.6406A>C (p.Ile2136Leu)
c.6403A>C (p.Ile2135Leu)
c.6373A>C (p.Ile2125Leu)
n.6687A>C
c.6385A>C (p.Ile2129Leu)
n.6720A>C
1g.237628016A>GCA345411413RYR2c.6376A>G (p.Ile2126Val)
c.6328A>G (p.Ile2110Val)
c.6406A>G (p.Ile2136Val)
c.6403A>G (p.Ile2135Val)
c.6373A>G (p.Ile2125Val)
n.6687A>G
c.6385A>G (p.Ile2129Val)
n.6720A>G
1g.237628016A>TCA345411414RYR2c.6376A>T (p.Ile2126Phe)
c.6328A>T (p.Ile2110Phe)
c.6406A>T (p.Ile2136Phe)
c.6403A>T (p.Ile2135Phe)
c.6373A>T (p.Ile2125Phe)
n.6687A>T
c.6385A>T (p.Ile2129Phe)
n.6720A>T
1g.237628016_237628019delCA2651204074RYR2c.6376_6379del (p.Ile2126GlyfsTer4)
c.6328_6331del (p.Ile2110GlyfsTer4)
c.6406_6409del (p.Ile2136GlyfsTer4)
c.6403_6406del (p.Ile2135GlyfsTer4)
c.6373_6376del (p.Ile2125GlyfsTer4)
n.6687_6690del
c.6385_6388del (p.Ile2129GlyfsTer4)
n.6720_6723del
 gnomAD v4
1g.237628017T>ACA345411415RYR2c.6377T>A (p.Ile2126Asn)
c.6329T>A (p.Ile2110Asn)
c.6407T>A (p.Ile2136Asn)
c.6404T>A (p.Ile2135Asn)
c.6374T>A (p.Ile2125Asn)
n.6688T>A
c.6386T>A (p.Ile2129Asn)
n.6721T>A
1g.237628017T>CCA345411416RYR2c.6377T>C (p.Ile2126Thr)
c.6329T>C (p.Ile2110Thr)
c.6407T>C (p.Ile2136Thr)
c.6404T>C (p.Ile2135Thr)
c.6374T>C (p.Ile2125Thr)
n.6688T>C
c.6386T>C (p.Ile2129Thr)
n.6721T>C
1g.237628017T>GCA345411417RYR2c.6377T>G (p.Ile2126Ser)
c.6329T>G (p.Ile2110Ser)
c.6407T>G (p.Ile2136Ser)
c.6404T>G (p.Ile2135Ser)
c.6374T>G (p.Ile2125Ser)
n.6688T>G
c.6386T>G (p.Ile2129Ser)
n.6721T>G
1g.237628018T>ACA423821932RYR2c.6378T>A (p.Ile2126=)
c.6330T>A (p.Ile2110=)
c.6408T>A (p.Ile2136=)
c.6405T>A (p.Ile2135=)
c.6375T>A (p.Ile2125=)
n.6689T>A
c.6387T>A (p.Ile2129=)
n.6722T>A
1g.237628018T>CCA423821933RYR2c.6378T>C (p.Ile2126=)
c.6330T>C (p.Ile2110=)
c.6408T>C (p.Ile2136=)
c.6405T>C (p.Ile2135=)
c.6375T>C (p.Ile2125=)
n.6689T>C
c.6387T>C (p.Ile2129=)
n.6722T>C
1g.237628018T>GCA345411418RYR2c.6378T>G (p.Ile2126Met)
c.6330T>G (p.Ile2110Met)
c.6408T>G (p.Ile2136Met)
c.6405T>G (p.Ile2135Met)
c.6375T>G (p.Ile2125Met)
n.6689T>G
c.6387T>G (p.Ile2129Met)
n.6722T>G
1g.237628019C>ACA423821934RYR2c.6379C>A (p.Arg2127=)
c.6331C>A (p.Arg2111=)
c.6409C>A (p.Arg2137=)
c.6406C>A (p.Arg2136=)
c.6376C>A (p.Arg2126=)
n.6690C>A
c.6388C>A (p.Arg2130=)
n.6723C>A
 ClinVar
1g.237628019C=CA2487418013RYR2c.6379C= (p.Arg2127=)
c.6331C= (p.Arg2111=)
c.6409C= (p.Arg2137=)
c.6406C= (p.Arg2136=)
c.6376C= (p.Arg2126=)
n.6690C=
c.6388C= (p.Arg2130=)
n.6723C=
1g.237628019C>GCA087097RYR2c.6379C>G (p.Arg2127Gly)
c.6331C>G (p.Arg2111Gly)
c.6409C>G (p.Arg2137Gly)
c.6406C>G (p.Arg2136Gly)
c.6376C>G (p.Arg2126Gly)
n.6690C>G
c.6388C>G (p.Arg2130Gly)
n.6723C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.237628019C>TCA345411419RYR2c.6379C>T (p.Arg2127Trp)
c.6331C>T (p.Arg2111Trp)
c.6409C>T (p.Arg2137Trp)
c.6406C>T (p.Arg2136Trp)
c.6376C>T (p.Arg2126Trp)
n.6690C>T
c.6388C>T (p.Arg2130Trp)
n.6723C>T
 ClinVar gnomAD v4 COSMIC COSMIC
1g.237628020G>ACA010117RYR2c.6380G>A (p.Arg2127Gln)
c.6332G>A (p.Arg2111Gln)
c.6410G>A (p.Arg2137Gln)
c.6407G>A (p.Arg2136Gln)
c.6377G>A (p.Arg2126Gln)
n.6691G>A
c.6389G>A (p.Arg2130Gln)
n.6724G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.237628020G>CCA345411420RYR2c.6380G>C (p.Arg2127Pro)
c.6332G>C (p.Arg2111Pro)
c.6410G>C (p.Arg2137Pro)
c.6407G>C (p.Arg2136Pro)
c.6377G>C (p.Arg2126Pro)
n.6691G>C
c.6389G>C (p.Arg2130Pro)
n.6724G>C
1g.237628020G=CA1144229283RYR2c.6380G= (p.Arg2127=)
c.6332G= (p.Arg2111=)
c.6410G= (p.Arg2137=)
c.6407G= (p.Arg2136=)
c.6377G= (p.Arg2126=)
n.6691G=
c.6389G= (p.Arg2130=)
n.6724G=
1g.237628020G>TCA345411421RYR2c.6380G>T (p.Arg2127Leu)
c.6332G>T (p.Arg2111Leu)
c.6410G>T (p.Arg2137Leu)
c.6407G>T (p.Arg2136Leu)
c.6377G>T (p.Arg2126Leu)
n.6691G>T
c.6389G>T (p.Arg2130Leu)
n.6724G>T
 COSMIC
1g.237628021G>ACA423821937RYR2c.6381G>A (p.Arg2127=)
c.6333G>A (p.Arg2111=)
c.6411G>A (p.Arg2137=)
c.6408G>A (p.Arg2136=)
c.6378G>A (p.Arg2126=)
n.6692G>A
c.6390G>A (p.Arg2130=)
n.6725G>A
 ClinVar gnomAD v4 COSMIC COSMIC
1g.237628021G>CCA423821935RYR2c.6381G>C (p.Arg2127=)
c.6333G>C (p.Arg2111=)
c.6411G>C (p.Arg2137=)
c.6408G>C (p.Arg2136=)
c.6378G>C (p.Arg2126=)
n.6692G>C
c.6390G>C (p.Arg2130=)
n.6725G>C
1g.237628021G>TCA423821936RYR2c.6381G>T (p.Arg2127=)
c.6333G>T (p.Arg2111=)
c.6411G>T (p.Arg2137=)
c.6408G>T (p.Arg2136=)
c.6378G>T (p.Arg2126=)
n.6692G>T
c.6390G>T (p.Arg2130=)
n.6725G>T
 ClinVar
1g.237628022T>ACA345411422RYR2c.6382T>A (p.Ser2128Thr)
c.6334T>A (p.Ser2112Thr)
c.6412T>A (p.Ser2138Thr)
c.6409T>A (p.Ser2137Thr)
c.6379T>A (p.Ser2127Thr)
n.6693T>A
c.6391T>A (p.Ser2131Thr)
n.6726T>A
1g.237628022T>CCA345411423RYR2c.6382T>C (p.Ser2128Pro)
c.6334T>C (p.Ser2112Pro)
c.6412T>C (p.Ser2138Pro)
c.6409T>C (p.Ser2137Pro)
c.6379T>C (p.Ser2127Pro)
n.6693T>C
c.6391T>C (p.Ser2131Pro)
n.6726T>C
1g.237628022T>GCA345411424RYR2c.6382T>G (p.Ser2128Ala)
c.6334T>G (p.Ser2112Ala)
c.6412T>G (p.Ser2138Ala)
c.6409T>G (p.Ser2137Ala)
c.6379T>G (p.Ser2127Ala)
n.6693T>G
c.6391T>G (p.Ser2131Ala)
n.6726T>G
1g.237628022_237628024delCA2651204075RYR2c.6382_6384del (p.Ser2128del)
c.6334_6336del (p.Ser2112del)
c.6412_6414del (p.Ser2138del)
c.6409_6411del (p.Ser2137del)
c.6379_6381del (p.Ser2127del)
n.6693_6695del
c.6391_6393del (p.Ser2131del)
n.6726_6728del
 gnomAD v4
1g.237628023C>ACA345411425RYR2c.6383C>A (p.Ser2128Tyr)
c.6335C>A (p.Ser2112Tyr)
c.6413C>A (p.Ser2138Tyr)
c.6410C>A (p.Ser2137Tyr)
c.6380C>A (p.Ser2127Tyr)
n.6694C>A
c.6392C>A (p.Ser2131Tyr)
n.6727C>A
1g.237628023C>GCA345411427RYR2c.6383C>G (p.Ser2128Cys)
c.6335C>G (p.Ser2112Cys)
c.6413C>G (p.Ser2138Cys)
c.6410C>G (p.Ser2137Cys)
c.6380C>G (p.Ser2127Cys)
n.6694C>G
c.6392C>G (p.Ser2131Cys)
n.6727C>G
1g.237628023C>TCA345411426RYR2c.6383C>T (p.Ser2128Phe)
c.6335C>T (p.Ser2112Phe)
c.6413C>T (p.Ser2138Phe)
c.6410C>T (p.Ser2137Phe)
c.6380C>T (p.Ser2127Phe)
n.6694C>T
c.6392C>T (p.Ser2131Phe)
n.6727C>T
 COSMIC COSMIC
1g.237628024C>ACA423821938RYR2c.6384C>A (p.Ser2128=)
c.6336C>A (p.Ser2112=)
c.6414C>A (p.Ser2138=)
c.6411C>A (p.Ser2137=)
c.6381C>A (p.Ser2127=)
n.6695C>A
c.6393C>A (p.Ser2131=)
n.6728C>A
1g.237628024C=CA2487418014RYR2c.6384C= (p.Ser2128=)
c.6336C= (p.Ser2112=)
c.6414C= (p.Ser2138=)
c.6411C= (p.Ser2137=)
c.6381C= (p.Ser2127=)
n.6695C=
c.6393C= (p.Ser2131=)
n.6728C=
1g.237628024C>GCA423821939RYR2c.6384C>G (p.Ser2128=)
c.6336C>G (p.Ser2112=)
c.6414C>G (p.Ser2138=)
c.6411C>G (p.Ser2137=)
c.6381C>G (p.Ser2127=)
n.6695C>G
c.6393C>G (p.Ser2131=)
n.6728C>G
 dbSNP
1g.237628024C>TCA423821940RYR2c.6384C>T (p.Ser2128=)
c.6336C>T (p.Ser2112=)
c.6414C>T (p.Ser2138=)
c.6411C>T (p.Ser2137=)
c.6381C>T (p.Ser2127=)
n.6695C>T
c.6393C>T (p.Ser2131=)
n.6728C>T
 dbSNP gnomAD v2
1g.237628025C>ACA345411428RYR2c.6385C>A (p.Leu2129Met)
c.6337C>A (p.Leu2113Met)
c.6415C>A (p.Leu2139Met)
c.6412C>A (p.Leu2138Met)
c.6382C>A (p.Leu2128Met)
n.6696C>A
c.6394C>A (p.Leu2132Met)
n.6729C>A
 gnomAD v4
1g.237628025C>GCA345411429RYR2c.6385C>G (p.Leu2129Val)
c.6337C>G (p.Leu2113Val)
c.6415C>G (p.Leu2139Val)
c.6412C>G (p.Leu2138Val)
c.6382C>G (p.Leu2128Val)
n.6696C>G
c.6394C>G (p.Leu2132Val)
n.6729C>G
1g.237628025C>TCA423821941RYR2c.6385C>T (p.Leu2129=)
c.6337C>T (p.Leu2113=)
c.6415C>T (p.Leu2139=)
c.6412C>T (p.Leu2138=)
c.6382C>T (p.Leu2128=)
n.6696C>T
c.6394C>T (p.Leu2132=)
n.6729C>T
 gnomAD v4
1g.237628026T>ACA345411430RYR2c.6386T>A (p.Leu2129Gln)
c.6338T>A (p.Leu2113Gln)
c.6416T>A (p.Leu2139Gln)
c.6413T>A (p.Leu2138Gln)
c.6383T>A (p.Leu2128Gln)
n.6697T>A
c.6395T>A (p.Leu2132Gln)
n.6730T>A
1g.237628026T>CCA345411431RYR2c.6386T>C (p.Leu2129Pro)
c.6338T>C (p.Leu2113Pro)
c.6416T>C (p.Leu2139Pro)
c.6413T>C (p.Leu2138Pro)
c.6383T>C (p.Leu2128Pro)
n.6697T>C
c.6395T>C (p.Leu2132Pro)
n.6730T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.237628026T>GCA345411432RYR2c.6386T>G (p.Leu2129Arg)
c.6338T>G (p.Leu2113Arg)
c.6416T>G (p.Leu2139Arg)
c.6413T>G (p.Leu2138Arg)
c.6383T>G (p.Leu2128Arg)
n.6697T>G
c.6395T>G (p.Leu2132Arg)
n.6730T>G
1g.237628026T=CA2487418015RYR2c.6386T= (p.Leu2129=)
c.6338T= (p.Leu2113=)
c.6416T= (p.Leu2139=)
c.6413T= (p.Leu2138=)
c.6383T= (p.Leu2128=)
n.6697T=
c.6395T= (p.Leu2132=)
n.6730T=
1g.237628027G>ACA423821942RYR2c.6387G>A (p.Leu2129=)
c.6339G>A (p.Leu2113=)
c.6417G>A (p.Leu2139=)
c.6414G>A (p.Leu2138=)
c.6384G>A (p.Leu2128=)
n.6698G>A
c.6396G>A (p.Leu2132=)
n.6731G>A
1g.237628027G>CCA423821943RYR2c.6387G>C (p.Leu2129=)
c.6339G>C (p.Leu2113=)
c.6417G>C (p.Leu2139=)
c.6414G>C (p.Leu2138=)
c.6384G>C (p.Leu2128=)
n.6698G>C
c.6396G>C (p.Leu2132=)
n.6731G>C
1g.237628027G>TCA423821944RYR2c.6387G>T (p.Leu2129=)
c.6339G>T (p.Leu2113=)
c.6417G>T (p.Leu2139=)
c.6414G>T (p.Leu2138=)
c.6384G>T (p.Leu2128=)
n.6698G>T
c.6396G>T (p.Leu2132=)
n.6731G>T
1g.237628028C>ACA345411433RYR2c.6388C>A (p.Leu2130Met)
c.6340C>A (p.Leu2114Met)
c.6418C>A (p.Leu2140Met)
c.6415C>A (p.Leu2139Met)
c.6385C>A (p.Leu2129Met)
n.6699C>A
c.6397C>A (p.Leu2133Met)
n.6732C>A
1g.237628028C=CA2487418016RYR2c.6388C= (p.Leu2130=)
c.6340C= (p.Leu2114=)
c.6418C= (p.Leu2140=)
c.6415C= (p.Leu2139=)
c.6385C= (p.Leu2129=)
n.6699C=
c.6397C= (p.Leu2133=)
n.6732C=
1g.237628028C>GCA345411434RYR2c.6388C>G (p.Leu2130Val)
c.6340C>G (p.Leu2114Val)
c.6418C>G (p.Leu2140Val)
c.6415C>G (p.Leu2139Val)
c.6385C>G (p.Leu2129Val)
n.6699C>G
c.6397C>G (p.Leu2133Val)
n.6732C>G
1g.237628028C>TCA423821945RYR2c.6388C>T (p.Leu2130=)
c.6340C>T (p.Leu2114=)
c.6418C>T (p.Leu2140=)
c.6415C>T (p.Leu2139=)
c.6385C>T (p.Leu2129=)
n.6699C>T
c.6397C>T (p.Leu2133=)
n.6732C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.237628029T>ACA345411435RYR2c.6389T>A (p.Leu2130Gln)
c.6341T>A (p.Leu2114Gln)
c.6419T>A (p.Leu2140Gln)
c.6416T>A (p.Leu2139Gln)
c.6386T>A (p.Leu2129Gln)
n.6700T>A
c.6398T>A (p.Leu2133Gln)
n.6733T>A
1g.237628029T>CCA345411436RYR2c.6389T>C (p.Leu2130Pro)
c.6341T>C (p.Leu2114Pro)
c.6419T>C (p.Leu2140Pro)
c.6416T>C (p.Leu2139Pro)
c.6386T>C (p.Leu2129Pro)
n.6700T>C
c.6398T>C (p.Leu2133Pro)
n.6733T>C
1g.237628029T>GCA345411437RYR2c.6389T>G (p.Leu2130Arg)
c.6341T>G (p.Leu2114Arg)
c.6419T>G (p.Leu2140Arg)
c.6416T>G (p.Leu2139Arg)
c.6386T>G (p.Leu2129Arg)
n.6700T>G
c.6398T>G (p.Leu2133Arg)
n.6733T>G
1g.237628030G>ACA423821946RYR2c.6390G>A (p.Leu2130=)
c.6342G>A (p.Leu2114=)
c.6420G>A (p.Leu2140=)
c.6417G>A (p.Leu2139=)
c.6387G>A (p.Leu2129=)
n.6701G>A
c.6399G>A (p.Leu2133=)
n.6734G>A
 COSMIC COSMIC
1g.237628030G>CCA39839698RYR2c.6390G>C (p.Leu2130=)
c.6342G>C (p.Leu2114=)
c.6420G>C (p.Leu2140=)
c.6417G>C (p.Leu2139=)
c.6387G>C (p.Leu2129=)
n.6701G>C
c.6399G>C (p.Leu2133=)
n.6734G>C
 dbSNP
1g.237628030G=CA2487418017RYR2c.6390G= (p.Leu2130=)
c.6342G= (p.Leu2114=)
c.6420G= (p.Leu2140=)
c.6417G= (p.Leu2139=)
c.6387G= (p.Leu2129=)
n.6701G=
c.6399G= (p.Leu2133=)
n.6734G=
1g.237628030G>TCA087098RYR2c.6390G>T (p.Leu2130=)
c.6342G>T (p.Leu2114=)
c.6420G>T (p.Leu2140=)
c.6417G>T (p.Leu2139=)
c.6387G>T (p.Leu2129=)
n.6701G>T
c.6399G>T (p.Leu2133=)
n.6734G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.237628031A>CCA345411440RYR2c.6391A>C (p.Ser2131Arg)
c.6343A>C (p.Ser2115Arg)
c.6421A>C (p.Ser2141Arg)
c.6418A>C (p.Ser2140Arg)
c.6388A>C (p.Ser2130Arg)
n.6702A>C
c.6400A>C (p.Ser2134Arg)
n.6735A>C
 gnomAD v4
1g.237628031A>GCA345411438RYR2c.6391A>G (p.Ser2131Gly)
c.6343A>G (p.Ser2115Gly)
c.6421A>G (p.Ser2141Gly)
c.6418A>G (p.Ser2140Gly)
c.6388A>G (p.Ser2130Gly)
n.6702A>G
c.6400A>G (p.Ser2134Gly)
n.6735A>G
1g.237628031A>TCA345411439RYR2c.6391A>T (p.Ser2131Cys)
c.6343A>T (p.Ser2115Cys)
c.6421A>T (p.Ser2141Cys)
c.6418A>T (p.Ser2140Cys)
c.6388A>T (p.Ser2130Cys)
n.6702A>T
c.6400A>T (p.Ser2134Cys)
n.6735A>T
1g.237628032G>ACA345411441RYR2c.6392G>A (p.Ser2131Asn)
c.6344G>A (p.Ser2115Asn)
c.6422G>A (p.Ser2141Asn)
c.6419G>A (p.Ser2140Asn)
c.6389G>A (p.Ser2130Asn)
n.6703G>A
c.6401G>A (p.Ser2134Asn)
n.6736G>A
1g.237628032G>CCA345411442RYR2c.6392G>C (p.Ser2131Thr)
c.6344G>C (p.Ser2115Thr)
c.6422G>C (p.Ser2141Thr)
c.6419G>C (p.Ser2140Thr)
c.6389G>C (p.Ser2130Thr)
n.6703G>C
c.6401G>C (p.Ser2134Thr)
n.6736G>C
1g.237628032G>TCA345411443RYR2c.6392G>T (p.Ser2131Ile)
c.6344G>T (p.Ser2115Ile)
c.6422G>T (p.Ser2141Ile)
c.6419G>T (p.Ser2140Ile)
c.6389G>T (p.Ser2130Ile)
n.6703G>T
c.6401G>T (p.Ser2134Ile)
n.6736G>T
1g.237628033T>ACA345411444RYR2c.6393T>A (p.Ser2131Arg)
c.6345T>A (p.Ser2115Arg)
c.6423T>A (p.Ser2141Arg)
c.6420T>A (p.Ser2140Arg)
c.6390T>A (p.Ser2130Arg)
n.6704T>A
c.6402T>A (p.Ser2134Arg)
n.6737T>A
1g.237628033T>CCA087099RYR2c.6393T>C (p.Ser2131=)
c.6345T>C (p.Ser2115=)
c.6423T>C (p.Ser2141=)
c.6420T>C (p.Ser2140=)
c.6390T>C (p.Ser2130=)
n.6704T>C
c.6402T>C (p.Ser2134=)
n.6737T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237628033T>GCA345411445RYR2c.6393T>G (p.Ser2131Arg)
c.6345T>G (p.Ser2115Arg)
c.6423T>G (p.Ser2141Arg)
c.6420T>G (p.Ser2140Arg)
c.6390T>G (p.Ser2130Arg)
n.6704T>G
c.6402T>G (p.Ser2134Arg)
n.6737T>G
1g.237628033T=CA1143706217RYR2c.6393T= (p.Ser2131=)
c.6345T= (p.Ser2115=)
c.6423T= (p.Ser2141=)
c.6420T= (p.Ser2140=)
c.6390T= (p.Ser2130=)
n.6704T=
c.6402T= (p.Ser2134=)
n.6737T=
1g.237628034G>ACA345411448RYR2c.6394G>A (p.Val2132Met)
c.6346G>A (p.Val2116Met)
c.6424G>A (p.Val2142Met)
c.6421G>A (p.Val2141Met)
c.6391G>A (p.Val2131Met)
n.6705G>A
c.6403G>A (p.Val2135Met)
n.6738G>A
1g.237628034G>CCA345411446RYR2c.6394G>C (p.Val2132Leu)
c.6346G>C (p.Val2116Leu)
c.6424G>C (p.Val2142Leu)
c.6421G>C (p.Val2141Leu)
c.6391G>C (p.Val2131Leu)
n.6705G>C
c.6403G>C (p.Val2135Leu)
n.6738G>C
 ClinVar dbSNP
1g.237628034G=CA2487418018RYR2c.6394G= (p.Val2132=)
c.6346G= (p.Val2116=)
c.6424G= (p.Val2142=)
c.6421G= (p.Val2141=)
c.6391G= (p.Val2131=)
n.6705G=
c.6403G= (p.Val2135=)
n.6738G=
1g.237628034G>TCA345411447RYR2c.6394G>T (p.Val2132Leu)
c.6346G>T (p.Val2116Leu)
c.6424G>T (p.Val2142Leu)
c.6421G>T (p.Val2141Leu)
c.6391G>T (p.Val2131Leu)
n.6705G>T
c.6403G>T (p.Val2135Leu)
n.6738G>T
1g.237628035T>ACA345411449RYR2c.6395T>A (p.Val2132Glu)
c.6347T>A (p.Val2116Glu)
c.6425T>A (p.Val2142Glu)
c.6422T>A (p.Val2141Glu)
c.6392T>A (p.Val2131Glu)
n.6706T>A
c.6404T>A (p.Val2135Glu)
n.6739T>A
1g.237628035T>CCA345411450RYR2c.6395T>C (p.Val2132Ala)
c.6347T>C (p.Val2116Ala)
c.6425T>C (p.Val2142Ala)
c.6422T>C (p.Val2141Ala)
c.6392T>C (p.Val2131Ala)
n.6706T>C
c.6404T>C (p.Val2135Ala)
n.6739T>C
1g.237628035T>GCA345411451RYR2c.6395T>G (p.Val2132Gly)
c.6347T>G (p.Val2116Gly)
c.6425T>G (p.Val2142Gly)
c.6422T>G (p.Val2141Gly)
c.6392T>G (p.Val2131Gly)
n.6706T>G
c.6404T>G (p.Val2135Gly)
n.6739T>G
1g.237628036G>ACA39839719RYR2c.6396G>A (p.Val2132=)
c.6348G>A (p.Val2116=)
c.6426G>A (p.Val2142=)
c.6423G>A (p.Val2141=)
c.6393G>A (p.Val2131=)
n.6707G>A
c.6405G>A (p.Val2135=)
n.6740G>A
 dbSNP
1g.237628036G>CCA423821947RYR2c.6396G>C (p.Val2132=)
c.6348G>C (p.Val2116=)
c.6426G>C (p.Val2142=)
c.6423G>C (p.Val2141=)
c.6393G>C (p.Val2131=)
n.6707G>C
c.6405G>C (p.Val2135=)
n.6740G>C
1g.237628036G=CA2487418019RYR2c.6396G= (p.Val2132=)
c.6348G= (p.Val2116=)
c.6426G= (p.Val2142=)
c.6423G= (p.Val2141=)
c.6393G= (p.Val2131=)
n.6707G=
c.6405G= (p.Val2135=)
n.6740G=
1g.237628036G>TCA423821948RYR2c.6396G>T (p.Val2132=)
c.6348G>T (p.Val2116=)
c.6426G>T (p.Val2142=)
c.6423G>T (p.Val2141=)
c.6393G>T (p.Val2131=)
n.6707G>T
c.6405G>T (p.Val2135=)
n.6740G>T
1g.237628037A=CA2487418020RYR2c.6397A= (p.Arg2133=)
c.6349A= (p.Arg2117=)
c.6427A= (p.Arg2143=)
c.6424A= (p.Arg2142=)
c.6394A= (p.Arg2132=)
n.6708A=
c.6406A= (p.Arg2136=)
n.6741A=
1g.237628037A>CCA39839723RYR2c.6397A>C (p.Arg2133=)
c.6349A>C (p.Arg2117=)
c.6427A>C (p.Arg2143=)
c.6424A>C (p.Arg2142=)
c.6394A>C (p.Arg2132=)
n.6708A>C
c.6406A>C (p.Arg2136=)
n.6741A>C
 dbSNP
1g.237628037A>GCA345411452RYR2c.6397A>G (p.Arg2133Gly)
c.6349A>G (p.Arg2117Gly)
c.6427A>G (p.Arg2143Gly)
c.6424A>G (p.Arg2142Gly)
c.6394A>G (p.Arg2132Gly)
n.6708A>G
c.6406A>G (p.Arg2136Gly)
n.6741A>G
1g.237628037A>TCA345411453RYR2c.6397A>T (p.Arg2133Ter)
c.6349A>T (p.Arg2117Ter)
c.6427A>T (p.Arg2143Ter)
c.6424A>T (p.Arg2142Ter)
c.6394A>T (p.Arg2132Ter)
n.6708A>T
c.6406A>T (p.Arg2136Ter)
n.6741A>T
1g.237628038G>ACA345411454RYR2c.6398G>A (p.Arg2133Lys)
c.6350G>A (p.Arg2117Lys)
c.6428G>A (p.Arg2143Lys)
c.6425G>A (p.Arg2142Lys)
c.6395G>A (p.Arg2132Lys)
n.6709G>A
c.6407G>A (p.Arg2136Lys)
n.6742G>A
 dbSNP
1g.237628038G>CCA345411456RYR2c.6398G>C (p.Arg2133Thr)
c.6350G>C (p.Arg2117Thr)
c.6428G>C (p.Arg2143Thr)
c.6425G>C (p.Arg2142Thr)
c.6395G>C (p.Arg2132Thr)
n.6709G>C
c.6407G>C (p.Arg2136Thr)
n.6742G>C
1g.237628038G>TCA345411455RYR2c.6398G>T (p.Arg2133Ile)
c.6350G>T (p.Arg2117Ile)
c.6428G>T (p.Arg2143Ile)
c.6425G>T (p.Arg2142Ile)
c.6395G>T (p.Arg2132Ile)
n.6709G>T
c.6407G>T (p.Arg2136Ile)
n.6742G>T
1g.237628039A>CCA345411457RYR2c.6399A>C (p.Arg2133Ser)
c.6351A>C (p.Arg2117Ser)
c.6429A>C (p.Arg2143Ser)
c.6426A>C (p.Arg2142Ser)
c.6396A>C (p.Arg2132Ser)
n.6710A>C
c.6408A>C (p.Arg2136Ser)
n.6743A>C
1g.237628039A>GCA423821949RYR2c.6399A>G (p.Arg2133=)
c.6351A>G (p.Arg2117=)
c.6429A>G (p.Arg2143=)
c.6426A>G (p.Arg2142=)
c.6396A>G (p.Arg2132=)
n.6710A>G
c.6408A>G (p.Arg2136=)
n.6743A>G
1g.237628039A>TCA345411458RYR2c.6399A>T (p.Arg2133Ser)
c.6351A>T (p.Arg2117Ser)
c.6429A>T (p.Arg2143Ser)
c.6426A>T (p.Arg2142Ser)
c.6396A>T (p.Arg2132Ser)
n.6710A>T
c.6408A>T (p.Arg2136Ser)
n.6743A>T
1g.237628040A>CCA345411459RYR2c.6400A>C (p.Met2134Leu)
c.6352A>C (p.Met2118Leu)
c.6430A>C (p.Met2144Leu)
c.6427A>C (p.Met2143Leu)
c.6397A>C (p.Met2133Leu)
n.6711A>C
c.6409A>C (p.Met2137Leu)
n.6744A>C
1g.237628040A>GCA345411460RYR2c.6400A>G (p.Met2134Val)
c.6352A>G (p.Met2118Val)
c.6430A>G (p.Met2144Val)
c.6427A>G (p.Met2143Val)
c.6397A>G (p.Met2133Val)
n.6711A>G
c.6409A>G (p.Met2137Val)
n.6744A>G
1g.237628040A>TCA345411461RYR2c.6400A>T (p.Met2134Leu)
c.6352A>T (p.Met2118Leu)
c.6430A>T (p.Met2144Leu)
c.6427A>T (p.Met2143Leu)
c.6397A>T (p.Met2133Leu)
n.6711A>T
c.6409A>T (p.Met2137Leu)
n.6744A>T
1g.237628041T>ACA345411462RYR2c.6401T>A (p.Met2134Lys)
c.6353T>A (p.Met2118Lys)
c.6431T>A (p.Met2144Lys)
c.6428T>A (p.Met2143Lys)
c.6398T>A (p.Met2133Lys)
n.6712T>A
c.6410T>A (p.Met2137Lys)
n.6745T>A
1g.237628041T>CCA345411463RYR2c.6401T>C (p.Met2134Thr)
c.6353T>C (p.Met2118Thr)
c.6431T>C (p.Met2144Thr)
c.6428T>C (p.Met2143Thr)
c.6398T>C (p.Met2133Thr)
n.6712T>C
c.6410T>C (p.Met2137Thr)
n.6745T>C
1g.237628041T>GCA345411464RYR2c.6401T>G (p.Met2134Arg)
c.6353T>G (p.Met2118Arg)
c.6431T>G (p.Met2144Arg)
c.6428T>G (p.Met2143Arg)
c.6398T>G (p.Met2133Arg)
n.6712T>G
c.6410T>G (p.Met2137Arg)
n.6745T>G
 dbSNP gnomAD v3 gnomAD v4
1g.237628041T=CA2487418021RYR2c.6401T= (p.Met2134=)
c.6353T= (p.Met2118=)
c.6431T= (p.Met2144=)
c.6428T= (p.Met2143=)
c.6398T= (p.Met2133=)
n.6712T=
c.6410T= (p.Met2137=)
n.6745T=
1g.237628042G>ACA345411465RYR2c.6402G>A (p.Met2134Ile)
c.6354G>A (p.Met2118Ile)
c.6432G>A (p.Met2144Ile)
c.6429G>A (p.Met2143Ile)
c.6399G>A (p.Met2133Ile)
n.6713G>A
c.6411G>A (p.Met2137Ile)
n.6746G>A
1g.237628042G>CCA345411466RYR2c.6402G>C (p.Met2134Ile)
c.6354G>C (p.Met2118Ile)
c.6432G>C (p.Met2144Ile)
c.6429G>C (p.Met2143Ile)
c.6399G>C (p.Met2133Ile)
n.6713G>C
c.6411G>C (p.Met2137Ile)
n.6746G>C
1g.237628042G>TCA345411467RYR2c.6402G>T (p.Met2134Ile)
c.6354G>T (p.Met2118Ile)
c.6432G>T (p.Met2144Ile)
c.6429G>T (p.Met2143Ile)
c.6399G>T (p.Met2133Ile)
n.6713G>T
c.6411G>T (p.Met2137Ile)
n.6746G>T
1g.237628043G>ACA345411468RYR2c.6403G>A (p.Gly2135Ser)
c.6355G>A (p.Gly2119Ser)
c.6433G>A (p.Gly2145Ser)
c.6430G>A (p.Gly2144Ser)
c.6400G>A (p.Gly2134Ser)
n.6714G>A
c.6412G>A (p.Gly2138Ser)
n.6747G>A
1g.237628043G>CCA345411470RYR2c.6403G>C (p.Gly2135Arg)
c.6355G>C (p.Gly2119Arg)
c.6433G>C (p.Gly2145Arg)
c.6430G>C (p.Gly2144Arg)
c.6400G>C (p.Gly2134Arg)
n.6714G>C
c.6412G>C (p.Gly2138Arg)
n.6747G>C
1g.237628043G>TCA345411469RYR2c.6403G>T (p.Gly2135Cys)
c.6355G>T (p.Gly2119Cys)
c.6433G>T (p.Gly2145Cys)
c.6430G>T (p.Gly2144Cys)
c.6400G>T (p.Gly2134Cys)
n.6714G>T
c.6412G>T (p.Gly2138Cys)
n.6747G>T
1g.237628044G>ACA345411471RYR2c.6404G>A (p.Gly2135Asp)
c.6356G>A (p.Gly2119Asp)
c.6434G>A (p.Gly2145Asp)
c.6431G>A (p.Gly2144Asp)
c.6401G>A (p.Gly2134Asp)
n.6715G>A
c.6413G>A (p.Gly2138Asp)
n.6748G>A
 COSMIC COSMIC
1g.237628044G>CCA345411473RYR2c.6404G>C (p.Gly2135Ala)
c.6356G>C (p.Gly2119Ala)
c.6434G>C (p.Gly2145Ala)
c.6431G>C (p.Gly2144Ala)
c.6401G>C (p.Gly2134Ala)
n.6715G>C
c.6413G>C (p.Gly2138Ala)
n.6748G>C
1g.237628044G>TCA345411472RYR2c.6404G>T (p.Gly2135Val)
c.6356G>T (p.Gly2119Val)
c.6434G>T (p.Gly2145Val)
c.6431G>T (p.Gly2144Val)
c.6401G>T (p.Gly2134Val)
n.6715G>T
c.6413G>T (p.Gly2138Val)
n.6748G>T
 dbSNP COSMIC COSMIC
1g.237628045C>ACA423821950RYR2c.6405C>A (p.Gly2135=)
c.6357C>A (p.Gly2119=)
c.6435C>A (p.Gly2145=)
c.6432C>A (p.Gly2144=)
c.6402C>A (p.Gly2134=)
n.6716C>A
c.6414C>A (p.Gly2138=)
n.6749C>A
1g.237628045C>GCA423821951RYR2c.6405C>G (p.Gly2135=)
c.6357C>G (p.Gly2119=)
c.6435C>G (p.Gly2145=)
c.6432C>G (p.Gly2144=)
c.6402C>G (p.Gly2134=)
n.6716C>G
c.6414C>G (p.Gly2138=)
n.6749C>G
1g.237628045C>TCA423821952RYR2c.6405C>T (p.Gly2135=)
c.6357C>T (p.Gly2119=)
c.6435C>T (p.Gly2145=)
c.6432C>T (p.Gly2144=)
c.6402C>T (p.Gly2134=)
n.6716C>T
c.6414C>T (p.Gly2138=)
n.6749C>T
1g.237628046A>CCA345411474RYR2c.6406A>C (p.Lys2136Gln)
c.6358A>C (p.Lys2120Gln)
c.6436A>C (p.Lys2146Gln)
c.6433A>C (p.Lys2145Gln)
c.6403A>C (p.Lys2135Gln)
n.6717A>C
c.6415A>C (p.Lys2139Gln)
n.6750A>C
1g.237628046A>GCA345411475RYR2c.6406A>G (p.Lys2136Glu)
c.6358A>G (p.Lys2120Glu)
c.6436A>G (p.Lys2146Glu)
c.6433A>G (p.Lys2145Glu)
c.6403A>G (p.Lys2135Glu)
n.6717A>G
c.6415A>G (p.Lys2139Glu)
n.6750A>G
1g.237628046A>TCA345411476RYR2c.6406A>T (p.Lys2136Ter)
c.6358A>T (p.Lys2120Ter)
c.6436A>T (p.Lys2146Ter)
c.6433A>T (p.Lys2145Ter)
c.6403A>T (p.Lys2135Ter)
n.6717A>T
c.6415A>T (p.Lys2139Ter)
n.6750A>T
1g.237628047A>CCA345411477RYR2c.6407A>C (p.Lys2136Thr)
c.6359A>C (p.Lys2120Thr)
c.6437A>C (p.Lys2146Thr)
c.6434A>C (p.Lys2145Thr)
c.6404A>C (p.Lys2135Thr)
n.6718A>C
c.6416A>C (p.Lys2139Thr)
n.6751A>C
1g.237628047A>GCA345411478RYR2c.6407A>G (p.Lys2136Arg)
c.6359A>G (p.Lys2120Arg)
c.6437A>G (p.Lys2146Arg)
c.6434A>G (p.Lys2145Arg)
c.6404A>G (p.Lys2135Arg)
n.6718A>G
c.6416A>G (p.Lys2139Arg)
n.6751A>G
1g.237628047A>TCA345411479RYR2c.6407A>T (p.Lys2136Ile)
c.6359A>T (p.Lys2120Ile)
c.6437A>T (p.Lys2146Ile)
c.6434A>T (p.Lys2145Ile)
c.6404A>T (p.Lys2135Ile)
n.6718A>T
c.6416A>T (p.Lys2139Ile)
n.6751A>T
1g.237628048A>CCA345411480RYR2c.6408A>C (p.Lys2136Asn)
c.6360A>C (p.Lys2120Asn)
c.6438A>C (p.Lys2146Asn)
c.6435A>C (p.Lys2145Asn)
c.6405A>C (p.Lys2135Asn)
n.6719A>C
c.6417A>C (p.Lys2139Asn)
n.6752A>C
 ClinVar dbSNP
1g.237628048A>GCA423821953RYR2c.6408A>G (p.Lys2136=)
c.6360A>G (p.Lys2120=)
c.6438A>G (p.Lys2146=)
c.6435A>G (p.Lys2145=)
c.6405A>G (p.Lys2135=)
n.6719A>G
c.6417A>G (p.Lys2139=)
n.6752A>G
1g.237628048A>TCA345411481RYR2c.6408A>T (p.Lys2136Asn)
c.6360A>T (p.Lys2120Asn)
c.6438A>T (p.Lys2146Asn)
c.6435A>T (p.Lys2145Asn)
c.6405A>T (p.Lys2135Asn)
n.6719A>T
c.6417A>T (p.Lys2139Asn)
n.6752A>T
1g.237628049G>ACA345411482RYR2c.6409G>A (p.Glu2137Lys)
c.6361G>A (p.Glu2121Lys)
c.6439G>A (p.Glu2147Lys)
c.6436G>A (p.Glu2146Lys)
c.6406G>A (p.Glu2136Lys)
n.6720G>A
c.6418G>A (p.Glu2140Lys)
n.6753G>A
 gnomAD v4
1g.237628049G>CCA345411483RYR2c.6409G>C (p.Glu2137Gln)
c.6361G>C (p.Glu2121Gln)
c.6439G>C (p.Glu2147Gln)
c.6436G>C (p.Glu2146Gln)
c.6406G>C (p.Glu2136Gln)
n.6720G>C
c.6418G>C (p.Glu2140Gln)
n.6753G>C
1g.237628049G>TCA345411484RYR2c.6409G>T (p.Glu2137Ter)
c.6361G>T (p.Glu2121Ter)
c.6439G>T (p.Glu2147Ter)
c.6436G>T (p.Glu2146Ter)
c.6406G>T (p.Glu2136Ter)
n.6720G>T
c.6418G>T (p.Glu2140Ter)
n.6753G>T
1g.237628050A=CA2487418022RYR2c.6410A= (p.Glu2137=)
c.6362A= (p.Glu2121=)
c.6440A= (p.Glu2147=)
c.6437A= (p.Glu2146=)
c.6407A= (p.Glu2136=)
n.6721A=
c.6419A= (p.Glu2140=)
n.6754A=
1g.237628050A>CCA345411487RYR2c.6410A>C (p.Glu2137Ala)
c.6362A>C (p.Glu2121Ala)
c.6440A>C (p.Glu2147Ala)
c.6437A>C (p.Glu2146Ala)
c.6407A>C (p.Glu2136Ala)
n.6721A>C
c.6419A>C (p.Glu2140Ala)
n.6754A>C
 dbSNP gnomAD v2 gnomAD v4
1g.237628050A>GCA345411485RYR2c.6410A>G (p.Glu2137Gly)
c.6362A>G (p.Glu2121Gly)
c.6440A>G (p.Glu2147Gly)
c.6437A>G (p.Glu2146Gly)
c.6407A>G (p.Glu2136Gly)
n.6721A>G
c.6419A>G (p.Glu2140Gly)
n.6754A>G
1g.237628050A>TCA345411486RYR2c.6410A>T (p.Glu2137Val)
c.6362A>T (p.Glu2121Val)
c.6440A>T (p.Glu2147Val)
c.6437A>T (p.Glu2146Val)
c.6407A>T (p.Glu2136Val)
n.6721A>T
c.6419A>T (p.Glu2140Val)
n.6754A>T
1g.237628051A>CCA345411488RYR2c.6411A>C (p.Glu2137Asp)
c.6363A>C (p.Glu2121Asp)
c.6441A>C (p.Glu2147Asp)
c.6438A>C (p.Glu2146Asp)
c.6408A>C (p.Glu2136Asp)
n.6722A>C
c.6420A>C (p.Glu2140Asp)
n.6755A>C
1g.237628051A>GCA423821954RYR2c.6411A>G (p.Glu2137=)
c.6363A>G (p.Glu2121=)
c.6441A>G (p.Glu2147=)
c.6438A>G (p.Glu2146=)
c.6408A>G (p.Glu2136=)
n.6722A>G
c.6420A>G (p.Glu2140=)
n.6755A>G
 gnomAD v4
1g.237628051A>TCA345411489RYR2c.6411A>T (p.Glu2137Asp)
c.6363A>T (p.Glu2121Asp)
c.6441A>T (p.Glu2147Asp)
c.6438A>T (p.Glu2146Asp)
c.6408A>T (p.Glu2136Asp)
n.6722A>T
c.6420A>T (p.Glu2140Asp)
n.6755A>T
1g.237628052G>ACA345411490RYR2c.6412G>A (p.Glu2138Lys)
c.6364G>A (p.Glu2122Lys)
c.6442G>A (p.Glu2148Lys)
c.6439G>A (p.Glu2147Lys)
c.6409G>A (p.Glu2137Lys)
n.6723G>A
c.6421G>A (p.Glu2141Lys)
n.6756G>A
 ClinVar dbSNP
1g.237628052G>CCA345411491RYR2c.6412G>C (p.Glu2138Gln)
c.6364G>C (p.Glu2122Gln)
c.6442G>C (p.Glu2148Gln)
c.6439G>C (p.Glu2147Gln)
c.6409G>C (p.Glu2137Gln)
n.6723G>C
c.6421G>C (p.Glu2141Gln)
n.6756G>C
1g.237628052G=CA2487418023RYR2c.6412G= (p.Glu2138=)
c.6364G= (p.Glu2122=)
c.6442G= (p.Glu2148=)
c.6439G= (p.Glu2147=)
c.6409G= (p.Glu2137=)
n.6723G=
c.6421G= (p.Glu2141=)
n.6756G=
1g.237628052G>TCA345411492RYR2c.6412G>T (p.Glu2138Ter)
c.6364G>T (p.Glu2122Ter)
c.6442G>T (p.Glu2148Ter)
c.6439G>T (p.Glu2147Ter)
c.6409G>T (p.Glu2137Ter)
n.6723G>T
c.6421G>T (p.Glu2141Ter)
n.6756G>T
1g.237628053A>CCA345411493RYR2c.6413A>C (p.Glu2138Ala)
c.6365A>C (p.Glu2122Ala)
c.6443A>C (p.Glu2148Ala)
c.6440A>C (p.Glu2147Ala)
c.6410A>C (p.Glu2137Ala)
n.6724A>C
c.6422A>C (p.Glu2141Ala)
n.6757A>C
1g.237628053A>GCA345411494RYR2c.6413A>G (p.Glu2138Gly)
c.6365A>G (p.Glu2122Gly)
c.6443A>G (p.Glu2148Gly)
c.6440A>G (p.Glu2147Gly)
c.6410A>G (p.Glu2137Gly)
n.6724A>G
c.6422A>G (p.Glu2141Gly)
n.6757A>G
1g.237628053A>TCA345411495RYR2c.6413A>T (p.Glu2138Val)
c.6365A>T (p.Glu2122Val)
c.6443A>T (p.Glu2148Val)
c.6440A>T (p.Glu2147Val)
c.6410A>T (p.Glu2137Val)
n.6724A>T
c.6422A>T (p.Glu2141Val)
n.6757A>T
1g.237628054A>CCA345411496RYR2c.6414A>C (p.Glu2138Asp)
c.6366A>C (p.Glu2122Asp)
c.6444A>C (p.Glu2148Asp)
c.6441A>C (p.Glu2147Asp)
c.6411A>C (p.Glu2137Asp)
n.6725A>C
c.6423A>C (p.Glu2141Asp)
n.6758A>C
1g.237628054A>GCA423821955RYR2c.6414A>G (p.Glu2138=)
c.6366A>G (p.Glu2122=)
c.6444A>G (p.Glu2148=)
c.6441A>G (p.Glu2147=)
c.6411A>G (p.Glu2137=)
n.6725A>G
c.6423A>G (p.Glu2141=)
n.6758A>G
 ClinVar gnomAD v4
1g.237628054A>TCA345411497RYR2c.6414A>T (p.Glu2138Asp)
c.6366A>T (p.Glu2122Asp)
c.6444A>T (p.Glu2148Asp)
c.6441A>T (p.Glu2147Asp)
c.6411A>T (p.Glu2137Asp)
n.6725A>T
c.6423A>T (p.Glu2141Asp)
n.6758A>T
1g.237628055G>ACA345411499RYR2c.6415G>A (p.Glu2139Lys)
c.6367G>A (p.Glu2123Lys)
c.6445G>A (p.Glu2149Lys)
c.6442G>A (p.Glu2148Lys)
c.6412G>A (p.Glu2138Lys)
n.6726G>A
c.6424G>A (p.Glu2142Lys)
n.6759G>A
1g.237628055G>CCA345411500RYR2c.6415G>C (p.Glu2139Gln)
c.6367G>C (p.Glu2123Gln)
c.6445G>C (p.Glu2149Gln)
c.6442G>C (p.Glu2148Gln)
c.6412G>C (p.Glu2138Gln)
n.6726G>C
c.6424G>C (p.Glu2142Gln)
n.6759G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.237628055G=CA2487418024RYR2c.6415G= (p.Glu2139=)
c.6367G= (p.Glu2123=)
c.6445G= (p.Glu2149=)
c.6442G= (p.Glu2148=)
c.6412G= (p.Glu2138=)
n.6726G=
c.6424G= (p.Glu2142=)
n.6759G=
1g.237628055G>TCA345411498RYR2c.6415G>T (p.Glu2139Ter)
c.6367G>T (p.Glu2123Ter)
c.6445G>T (p.Glu2149Ter)
c.6442G>T (p.Glu2148Ter)
c.6412G>T (p.Glu2138Ter)
n.6726G>T
c.6424G>T (p.Glu2142Ter)
n.6759G>T
1g.237628056A>CCA345411501RYR2c.6416A>C (p.Glu2139Ala)
c.6368A>C (p.Glu2123Ala)
c.6446A>C (p.Glu2149Ala)
c.6443A>C (p.Glu2148Ala)
c.6413A>C (p.Glu2138Ala)
n.6727A>C
c.6425A>C (p.Glu2142Ala)
n.6760A>C
 COSMIC COSMIC
1g.237628056A>GCA345411502RYR2c.6416A>G (p.Glu2139Gly)
c.6368A>G (p.Glu2123Gly)
c.6446A>G (p.Glu2149Gly)
c.6443A>G (p.Glu2148Gly)
c.6413A>G (p.Glu2138Gly)
n.6727A>G
c.6425A>G (p.Glu2142Gly)
n.6760A>G
1g.237628056A>TCA345411503RYR2c.6416A>T (p.Glu2139Val)
c.6368A>T (p.Glu2123Val)
c.6446A>T (p.Glu2149Val)
c.6443A>T (p.Glu2148Val)
c.6413A>T (p.Glu2138Val)
n.6727A>T
c.6425A>T (p.Glu2142Val)
n.6760A>T
1g.237628057G>ACA423821956RYR2c.6417G>A (p.Glu2139=)
c.6369G>A (p.Glu2123=)
c.6447G>A (p.Glu2149=)
c.6444G>A (p.Glu2148=)
c.6414G>A (p.Glu2138=)
n.6728G>A
c.6426G>A (p.Glu2142=)
n.6761G>A
1g.237628057G>CCA345411504RYR2c.6417G>C (p.Glu2139Asp)
c.6369G>C (p.Glu2123Asp)
c.6447G>C (p.Glu2149Asp)
c.6444G>C (p.Glu2148Asp)
c.6414G>C (p.Glu2138Asp)
n.6728G>C
c.6426G>C (p.Glu2142Asp)
n.6761G>C
1g.237628057G>TCA345411505RYR2c.6417G>T (p.Glu2139Asp)
c.6369G>T (p.Glu2123Asp)
c.6447G>T (p.Glu2149Asp)
c.6444G>T (p.Glu2148Asp)
c.6414G>T (p.Glu2138Asp)
n.6728G>T
c.6426G>T (p.Glu2142Asp)
n.6761G>T
 gnomAD v4
1g.237628058A>CCA345411508RYR2c.6418A>C (p.Lys2140Gln)
c.6370A>C (p.Lys2124Gln)
c.6448A>C (p.Lys2150Gln)
c.6445A>C (p.Lys2149Gln)
c.6415A>C (p.Lys2139Gln)
n.6729A>C
c.6427A>C (p.Lys2143Gln)
n.6762A>C
1g.237628058A>GCA345411506RYR2c.6418A>G (p.Lys2140Glu)
c.6370A>G (p.Lys2124Glu)
c.6448A>G (p.Lys2150Glu)
c.6445A>G (p.Lys2149Glu)
c.6415A>G (p.Lys2139Glu)
n.6729A>G
c.6427A>G (p.Lys2143Glu)
n.6762A>G
1g.237628058A>TCA345411507RYR2c.6418A>T (p.Lys2140Ter)
c.6370A>T (p.Lys2124Ter)
c.6448A>T (p.Lys2150Ter)
c.6445A>T (p.Lys2149Ter)
c.6415A>T (p.Lys2139Ter)
n.6729A>T
c.6427A>T (p.Lys2143Ter)
n.6762A>T
 COSMIC COSMIC
1g.237628059A=CA2487418025RYR2c.6419A= (p.Lys2140=)
c.6371A= (p.Lys2124=)
c.6449A= (p.Lys2150=)
c.6446A= (p.Lys2149=)
c.6416A= (p.Lys2139=)
n.6730A=
c.6428A= (p.Lys2143=)
n.6763A=
1g.237628059A>CCA345411509RYR2c.6419A>C (p.Lys2140Thr)
c.6371A>C (p.Lys2124Thr)
c.6449A>C (p.Lys2150Thr)
c.6446A>C (p.Lys2149Thr)
c.6416A>C (p.Lys2139Thr)
n.6730A>C
c.6428A>C (p.Lys2143Thr)
n.6763A>C
 ClinVar dbSNP
1g.237628059A>GCA345411510RYR2c.6419A>G (p.Lys2140Arg)
c.6371A>G (p.Lys2124Arg)
c.6449A>G (p.Lys2150Arg)
c.6446A>G (p.Lys2149Arg)
c.6416A>G (p.Lys2139Arg)
n.6730A>G
c.6428A>G (p.Lys2143Arg)
n.6763A>G
 dbSNP gnomAD v2 gnomAD v4
1g.237628059A>TCA345411511RYR2c.6419A>T (p.Lys2140Met)
c.6371A>T (p.Lys2124Met)
c.6449A>T (p.Lys2150Met)
c.6446A>T (p.Lys2149Met)
c.6416A>T (p.Lys2139Met)
n.6730A>T
c.6428A>T (p.Lys2143Met)
n.6763A>T
1g.237628060G>ACA423821957RYR2c.6420G>A (p.Lys2140=)
c.6372G>A (p.Lys2124=)
c.6450G>A (p.Lys2150=)
c.6447G>A (p.Lys2149=)
c.6417G>A (p.Lys2139=)
n.6731G>A
c.6429G>A (p.Lys2143=)
n.6764G>A
 ClinVar dbSNP gnomAD v4
1g.237628060G>CCA345411512RYR2c.6420G>C (p.Lys2140Asn)
c.6372G>C (p.Lys2124Asn)
c.6450G>C (p.Lys2150Asn)
c.6447G>C (p.Lys2149Asn)
c.6417G>C (p.Lys2139Asn)
n.6731G>C
c.6429G>C (p.Lys2143Asn)
n.6764G>C
1g.237628060G>TCA345411513RYR2c.6420G>T (p.Lys2140Asn)
c.6372G>T (p.Lys2124Asn)
c.6450G>T (p.Lys2150Asn)
c.6447G>T (p.Lys2149Asn)
c.6417G>T (p.Lys2139Asn)
n.6731G>T
c.6429G>T (p.Lys2143Asn)
n.6764G>T
1g.237628061C>ACA345411514RYR2c.6421C>A (p.Leu2141Ile)
c.6373C>A (p.Leu2125Ile)
c.6451C>A (p.Leu2151Ile)
c.6448C>A (p.Leu2150Ile)
c.6418C>A (p.Leu2140Ile)
n.6732C>A
c.6430C>A (p.Leu2144Ile)
n.6765C>A
1g.237628061C>GCA074874RYR2c.6421C>G (p.Leu2141Val)
c.6373C>G (p.Leu2125Val)
c.6451C>G (p.Leu2151Val)
c.6448C>G (p.Leu2150Val)
c.6418C>G (p.Leu2140Val)
n.6732C>G
c.6430C>G (p.Leu2144Val)
n.6765C>G
1g.237628061C>TCA345411515RYR2c.6421C>T (p.Leu2141Phe)
c.6373C>T (p.Leu2125Phe)
c.6451C>T (p.Leu2151Phe)
c.6448C>T (p.Leu2150Phe)
c.6418C>T (p.Leu2140Phe)
n.6732C>T
c.6430C>T (p.Leu2144Phe)
n.6765C>T
1g.237628062T>ACA345411516RYR2c.6422T>A (p.Leu2141His)
c.6374T>A (p.Leu2125His)
c.6452T>A (p.Leu2151His)
c.6449T>A (p.Leu2150His)
c.6419T>A (p.Leu2140His)
n.6733T>A
c.6431T>A (p.Leu2144His)
n.6766T>A
1g.237628062T>CCA345411517RYR2c.6422T>C (p.Leu2141Pro)
c.6374T>C (p.Leu2125Pro)
c.6452T>C (p.Leu2151Pro)
c.6449T>C (p.Leu2150Pro)
c.6419T>C (p.Leu2140Pro)
n.6733T>C
c.6431T>C (p.Leu2144Pro)
n.6766T>C
1g.237628062T>GCA345411518RYR2c.6422T>G (p.Leu2141Arg)
c.6374T>G (p.Leu2125Arg)
c.6452T>G (p.Leu2151Arg)
c.6449T>G (p.Leu2150Arg)
c.6419T>G (p.Leu2140Arg)
n.6733T>G
c.6431T>G (p.Leu2144Arg)
n.6766T>G
1g.237628063C>ACA423821958RYR2c.6423C>A (p.Leu2141=)
c.6375C>A (p.Leu2125=)
c.6453C>A (p.Leu2151=)
c.6450C>A (p.Leu2150=)
c.6420C>A (p.Leu2140=)
n.6734C>A
c.6432C>A (p.Leu2144=)
n.6767C>A
1g.237628063C>GCA423821959RYR2c.6423C>G (p.Leu2141=)
c.6375C>G (p.Leu2125=)
c.6453C>G (p.Leu2151=)
c.6450C>G (p.Leu2150=)
c.6420C>G (p.Leu2140=)
n.6734C>G
c.6432C>G (p.Leu2144=)
n.6767C>G
1g.237628063C>TCA423821960RYR2c.6423C>T (p.Leu2141=)
c.6375C>T (p.Leu2125=)
c.6453C>T (p.Leu2151=)
c.6450C>T (p.Leu2150=)
c.6420C>T (p.Leu2140=)
n.6734C>T
c.6432C>T (p.Leu2144=)
n.6767C>T
 dbSNP
1g.237628064A>CCA345411519RYR2c.6424A>C (p.Met2142Leu)
c.6376A>C (p.Met2126Leu)
c.6454A>C (p.Met2152Leu)
c.6451A>C (p.Met2151Leu)
c.6421A>C (p.Met2141Leu)
n.6735A>C
c.6433A>C (p.Met2145Leu)
n.6768A>C
 gnomAD v4
1g.237628064A>GCA345411520RYR2c.6424A>G (p.Met2142Val)
c.6376A>G (p.Met2126Val)
c.6454A>G (p.Met2152Val)
c.6451A>G (p.Met2151Val)
c.6421A>G (p.Met2141Val)
n.6735A>G
c.6433A>G (p.Met2145Val)
n.6768A>G
1g.237628064A>TCA345411521RYR2c.6424A>T (p.Met2142Leu)
c.6376A>T (p.Met2126Leu)
c.6454A>T (p.Met2152Leu)
c.6451A>T (p.Met2151Leu)
c.6421A>T (p.Met2141Leu)
n.6735A>T
c.6433A>T (p.Met2145Leu)
n.6768A>T
1g.237628065T>ACA345411522RYR2c.6425T>A (p.Met2142Lys)
c.6377T>A (p.Met2126Lys)
c.6455T>A (p.Met2152Lys)
c.6452T>A (p.Met2151Lys)
c.6422T>A (p.Met2141Lys)
n.6736T>A
c.6434T>A (p.Met2145Lys)
n.6769T>A
1g.237628065T>CCA345411523RYR2c.6425T>C (p.Met2142Thr)
c.6377T>C (p.Met2126Thr)
c.6455T>C (p.Met2152Thr)
c.6452T>C (p.Met2151Thr)
c.6422T>C (p.Met2141Thr)
n.6736T>C
c.6434T>C (p.Met2145Thr)
n.6769T>C
 ClinVar dbSNP
1g.237628065T>GCA345411524RYR2c.6425T>G (p.Met2142Arg)
c.6377T>G (p.Met2126Arg)
c.6455T>G (p.Met2152Arg)
c.6452T>G (p.Met2151Arg)
c.6422T>G (p.Met2141Arg)
n.6736T>G
c.6434T>G (p.Met2145Arg)
n.6769T>G
1g.237628066G>ACA345411525RYR2c.6426G>A (p.Met2142Ile)
c.6378G>A (p.Met2126Ile)
c.6456G>A (p.Met2152Ile)
c.6453G>A (p.Met2151Ile)
c.6423G>A (p.Met2141Ile)
n.6737G>A
c.6435G>A (p.Met2145Ile)
n.6770G>A
1g.237628066G>CCA345411526RYR2c.6426G>C (p.Met2142Ile)
c.6378G>C (p.Met2126Ile)
c.6456G>C (p.Met2152Ile)
c.6453G>C (p.Met2151Ile)
c.6423G>C (p.Met2141Ile)
n.6737G>C
c.6435G>C (p.Met2145Ile)
n.6770G>C
1g.237628066G>TCA345411527RYR2c.6426G>T (p.Met2142Ile)
c.6378G>T (p.Met2126Ile)
c.6456G>T (p.Met2152Ile)
c.6453G>T (p.Met2151Ile)
c.6423G>T (p.Met2141Ile)
n.6737G>T
c.6435G>T (p.Met2145Ile)
n.6770G>T
1g.237628067A>CCA345411529RYR2c.6427A>C (p.Ile2143Leu)
c.6379A>C (p.Ile2127Leu)
c.6457A>C (p.Ile2153Leu)
c.6454A>C (p.Ile2152Leu)
c.6424A>C (p.Ile2142Leu)
n.6738A>C
c.6436A>C (p.Ile2146Leu)
n.6771A>C
1g.237628067A>GCA345411530RYR2c.6427A>G (p.Ile2143Val)
c.6379A>G (p.Ile2127Val)
c.6457A>G (p.Ile2153Val)
c.6454A>G (p.Ile2152Val)
c.6424A>G (p.Ile2142Val)
n.6738A>G
c.6436A>G (p.Ile2146Val)
n.6771A>G
1g.237628067A>TCA345411528RYR2c.6427A>T (p.Ile2143Phe)
c.6379A>T (p.Ile2127Phe)
c.6457A>T (p.Ile2153Phe)
c.6454A>T (p.Ile2152Phe)
c.6424A>T (p.Ile2142Phe)
n.6738A>T
c.6436A>T (p.Ile2146Phe)
n.6771A>T
1g.237628068T>ACA345411532RYR2c.6428T>A (p.Ile2143Asn)
c.6380T>A (p.Ile2127Asn)
c.6458T>A (p.Ile2153Asn)
c.6455T>A (p.Ile2152Asn)
c.6425T>A (p.Ile2142Asn)
n.6739T>A
c.6437T>A (p.Ile2146Asn)
n.6772T>A
1g.237628068T>CCA345411531RYR2c.6428T>C (p.Ile2143Thr)
c.6380T>C (p.Ile2127Thr)
c.6458T>C (p.Ile2153Thr)
c.6455T>C (p.Ile2152Thr)
c.6425T>C (p.Ile2142Thr)
n.6739T>C
c.6437T>C (p.Ile2146Thr)
n.6772T>C
 COSMIC COSMIC
1g.237628068T>GCA345411533RYR2c.6428T>G (p.Ile2143Ser)
c.6380T>G (p.Ile2127Ser)
c.6458T>G (p.Ile2153Ser)
c.6455T>G (p.Ile2152Ser)
c.6425T>G (p.Ile2142Ser)
n.6739T>G
c.6437T>G (p.Ile2146Ser)
n.6772T>G
 gnomAD v4
1g.237628069T>ACA423821962RYR2c.6429T>A (p.Ile2143=)
c.6381T>A (p.Ile2127=)
c.6459T>A (p.Ile2153=)
c.6456T>A (p.Ile2152=)
c.6426T>A (p.Ile2142=)
n.6740T>A
c.6438T>A (p.Ile2146=)
n.6773T>A
 ClinVar dbSNP gnomAD v4
1g.237628069T>CCA423821961RYR2c.6429T>C (p.Ile2143=)
c.6381T>C (p.Ile2127=)
c.6459T>C (p.Ile2153=)
c.6456T>C (p.Ile2152=)
c.6426T>C (p.Ile2142=)
n.6740T>C
c.6438T>C (p.Ile2146=)
n.6773T>C
1g.237628069T>GCA345411534RYR2c.6429T>G (p.Ile2143Met)
c.6381T>G (p.Ile2127Met)
c.6459T>G (p.Ile2153Met)
c.6456T>G (p.Ile2152Met)
c.6426T>G (p.Ile2142Met)
n.6740T>G
c.6438T>G (p.Ile2146Met)
n.6773T>G
1g.237628070C>ACA345411535RYR2c.6430C>A (p.Arg2144Ser)
c.6382C>A (p.Arg2128Ser)
c.6460C>A (p.Arg2154Ser)
c.6457C>A (p.Arg2153Ser)
c.6427C>A (p.Arg2143Ser)
n.6741C>A
c.6439C>A (p.Arg2147Ser)
n.6774C>A
 COSMIC COSMIC
1g.237628070C=CA2487418026RYR2c.6430C= (p.Arg2144=)
c.6382C= (p.Arg2128=)
c.6460C= (p.Arg2154=)
c.6457C= (p.Arg2153=)
c.6427C= (p.Arg2143=)
n.6741C=
c.6439C= (p.Arg2147=)
n.6774C=
1g.237628070C>GCA345411536RYR2c.6430C>G (p.Arg2144Gly)
c.6382C>G (p.Arg2128Gly)
c.6460C>G (p.Arg2154Gly)
c.6457C>G (p.Arg2153Gly)
c.6427C>G (p.Arg2143Gly)
n.6741C>G
c.6439C>G (p.Arg2147Gly)
n.6774C>G
 gnomAD v4
1g.237628070C>TCA087100RYR2c.6430C>T (p.Arg2144Cys)
c.6382C>T (p.Arg2128Cys)
c.6460C>T (p.Arg2154Cys)
c.6457C>T (p.Arg2153Cys)
c.6427C>T (p.Arg2143Cys)
n.6741C>T
c.6439C>T (p.Arg2147Cys)
n.6774C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.237628071G>ACA345411537RYR2c.6431G>A (p.Arg2144His)
c.6383G>A (p.Arg2128His)
c.6461G>A (p.Arg2154His)
c.6458G>A (p.Arg2153His)
c.6428G>A (p.Arg2143His)
n.6742G>A
c.6440G>A (p.Arg2147His)
n.6775G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.237628071G>CCA345411538RYR2c.6431G>C (p.Arg2144Pro)
c.6383G>C (p.Arg2128Pro)
c.6461G>C (p.Arg2154Pro)
c.6458G>C (p.Arg2153Pro)
c.6428G>C (p.Arg2143Pro)
n.6742G>C
c.6440G>C (p.Arg2147Pro)
n.6775G>C
1g.237628071G=CA2487418027RYR2c.6431G= (p.Arg2144=)
c.6383G= (p.Arg2128=)
c.6461G= (p.Arg2154=)
c.6458G= (p.Arg2153=)
c.6428G= (p.Arg2143=)
n.6742G=
c.6440G= (p.Arg2147=)
n.6775G=
1g.237628071G>TCA345411539RYR2c.6431G>T (p.Arg2144Leu)
c.6383G>T (p.Arg2128Leu)
c.6461G>T (p.Arg2154Leu)
c.6458G>T (p.Arg2153Leu)
c.6428G>T (p.Arg2143Leu)
n.6742G>T
c.6440G>T (p.Arg2147Leu)
n.6775G>T
1g.237628072T>ACA423821963RYR2c.6432T>A (p.Arg2144=)
c.6384T>A (p.Arg2128=)
c.6462T>A (p.Arg2154=)
c.6459T>A (p.Arg2153=)
c.6429T>A (p.Arg2143=)
n.6743T>A
c.6441T>A (p.Arg2147=)
n.6776T>A
1g.237628072T>CCA423821964RYR2c.6432T>C (p.Arg2144=)
c.6384T>C (p.Arg2128=)
c.6462T>C (p.Arg2154=)
c.6459T>C (p.Arg2153=)
c.6429T>C (p.Arg2143=)
n.6743T>C
c.6441T>C (p.Arg2147=)
n.6776T>C
 gnomAD v4
1g.237628072T>GCA423821965RYR2c.6432T>G (p.Arg2144=)
c.6384T>G (p.Arg2128=)
c.6462T>G (p.Arg2154=)
c.6459T>G (p.Arg2153=)
c.6429T>G (p.Arg2143=)
n.6743T>G
c.6441T>G (p.Arg2147=)
n.6776T>G
1g.237628073G>ACA345411540RYR2c.6433G>A (p.Gly2145Arg)
c.6385G>A (p.Gly2129Arg)
c.6463G>A (p.Gly2155Arg)
c.6460G>A (p.Gly2154Arg)
c.6430G>A (p.Gly2144Arg)
n.6744G>A
c.6442G>A (p.Gly2148Arg)
n.6777G>A
1g.237628073G>CCA010129RYR2c.6433G>C (p.Gly2145Arg)
c.6385G>C (p.Gly2129Arg)
c.6463G>C (p.Gly2155Arg)
c.6460G>C (p.Gly2154Arg)
c.6430G>C (p.Gly2144Arg)
n.6744G>C
c.6442G>C (p.Gly2148Arg)
n.6777G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237628073G=CA1148225072RYR2c.6433G= (p.Gly2145=)
c.6385G= (p.Gly2129=)
c.6463G= (p.Gly2155=)
c.6460G= (p.Gly2154=)
c.6430G= (p.Gly2144=)
n.6744G=
c.6442G= (p.Gly2148=)
n.6777G=
1g.237628073G>TCA345411541RYR2c.6433G>T (p.Gly2145Ter)
c.6385G>T (p.Gly2129Ter)
c.6463G>T (p.Gly2155Ter)
c.6460G>T (p.Gly2154Ter)
c.6430G>T (p.Gly2144Ter)
n.6744G>T
c.6442G>T (p.Gly2148Ter)
n.6777G>T
1g.237628074G>ACA345411542RYR2c.6434G>A (p.Gly2145Glu)
c.6386G>A (p.Gly2129Glu)
c.6464G>A (p.Gly2155Glu)
c.6461G>A (p.Gly2154Glu)
c.6431G>A (p.Gly2144Glu)
n.6745G>A
c.6443G>A (p.Gly2148Glu)
n.6778G>A
 dbSNP gnomAD v2 gnomAD v4
1g.237628074G>CCA345411543RYR2c.6434G>C (p.Gly2145Ala)
c.6386G>C (p.Gly2129Ala)
c.6464G>C (p.Gly2155Ala)
c.6461G>C (p.Gly2154Ala)
c.6431G>C (p.Gly2144Ala)
n.6745G>C
c.6443G>C (p.Gly2148Ala)
n.6778G>C
1g.237628074G=CA2487418028RYR2c.6434G= (p.Gly2145=)
c.6386G= (p.Gly2129=)
c.6464G= (p.Gly2155=)
c.6461G= (p.Gly2154=)
c.6431G= (p.Gly2144=)
n.6745G=
c.6443G= (p.Gly2148=)
n.6778G=
1g.237628074G>TCA345411544RYR2c.6434G>T (p.Gly2145Val)
c.6386G>T (p.Gly2129Val)
c.6464G>T (p.Gly2155Val)
c.6461G>T (p.Gly2154Val)
c.6431G>T (p.Gly2144Val)
n.6745G>T
c.6443G>T (p.Gly2148Val)
n.6778G>T
1g.237628075A=CA2487418029RYR2c.6435A= (p.Gly2145=)
c.6387A= (p.Gly2129=)
c.6465A= (p.Gly2155=)
c.6462A= (p.Gly2154=)
c.6432A= (p.Gly2144=)
n.6746A=
c.6444A= (p.Gly2148=)
n.6779A=
1g.237628075A>CCA423821966RYR2c.6435A>C (p.Gly2145=)
c.6387A>C (p.Gly2129=)
c.6465A>C (p.Gly2155=)
c.6462A>C (p.Gly2154=)
c.6432A>C (p.Gly2144=)
n.6746A>C
c.6444A>C (p.Gly2148=)
n.6779A>C
1g.237628075A>GCA423821968RYR2c.6435A>G (p.Gly2145=)
c.6387A>G (p.Gly2129=)
c.6465A>G (p.Gly2155=)
c.6462A>G (p.Gly2154=)
c.6432A>G (p.Gly2144=)
n.6746A>G
c.6444A>G (p.Gly2148=)
n.6779A>G
 dbSNP gnomAD v2 gnomAD v4
1g.237628075A>TCA423821967RYR2c.6435A>T (p.Gly2145=)
c.6387A>T (p.Gly2129=)
c.6465A>T (p.Gly2155=)
c.6462A>T (p.Gly2154=)
c.6432A>T (p.Gly2144=)
n.6746A>T
c.6444A>T (p.Gly2148=)
n.6779A>T
 ClinVar dbSNP
1g.237628076T>ACA345411545RYR2c.6436T>A (p.Leu2146Ile)
c.6388T>A (p.Leu2130Ile)
c.6466T>A (p.Leu2156Ile)
c.6463T>A (p.Leu2155Ile)
c.6433T>A (p.Leu2145Ile)
n.6747T>A
c.6445T>A (p.Leu2149Ile)
n.6780T>A
1g.237628076T>CCA423821969RYR2c.6436T>C (p.Leu2146=)
c.6388T>C (p.Leu2130=)
c.6466T>C (p.Leu2156=)
c.6463T>C (p.Leu2155=)
c.6433T>C (p.Leu2145=)
n.6747T>C
c.6445T>C (p.Leu2149=)
n.6780T>C
1g.237628076T>GCA087101RYR2c.6436T>G (p.Leu2146Val)
c.6388T>G (p.Leu2130Val)
c.6466T>G (p.Leu2156Val)
c.6463T>G (p.Leu2155Val)
c.6433T>G (p.Leu2145Val)
n.6747T>G
c.6445T>G (p.Leu2149Val)
n.6780T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.237628076T=CA1148280427RYR2c.6436T= (p.Leu2146=)
c.6388T= (p.Leu2130=)
c.6466T= (p.Leu2156=)
c.6463T= (p.Leu2155=)
c.6433T= (p.Leu2145=)
n.6747T=
c.6445T= (p.Leu2149=)
n.6780T=
1g.237628077T>ACA345411546RYR2c.6437T>A (p.Leu2146Ter)
c.6389T>A (p.Leu2130Ter)
c.6467T>A (p.Leu2156Ter)
c.6464T>A (p.Leu2155Ter)
c.6434T>A (p.Leu2145Ter)
n.6748T>A
c.6446T>A (p.Leu2149Ter)
n.6781T>A
1g.237628077T>CCA345411547RYR2c.6437T>C (p.Leu2146Ser)
c.6389T>C (p.Leu2130Ser)
c.6467T>C (p.Leu2156Ser)
c.6464T>C (p.Leu2155Ser)
c.6434T>C (p.Leu2145Ser)
n.6748T>C
c.6446T>C (p.Leu2149Ser)
n.6781T>C
 gnomAD v4
1g.237628077T>GCA345411548RYR2c.6437T>G (p.Leu2146Ter)
c.6389T>G (p.Leu2130Ter)
c.6467T>G (p.Leu2156Ter)
c.6464T>G (p.Leu2155Ter)
c.6434T>G (p.Leu2145Ter)
n.6748T>G
c.6446T>G (p.Leu2149Ter)
n.6781T>G
1g.237628078A=CA2487418030RYR2c.6438A= (p.Leu2146=)
c.6390A= (p.Leu2130=)
c.6468A= (p.Leu2156=)
c.6465A= (p.Leu2155=)
c.6435A= (p.Leu2145=)
n.6749A=
c.6447A= (p.Leu2149=)
n.6782A=
1g.237628078A>CCA345411549RYR2c.6438A>C (p.Leu2146Phe)
c.6390A>C (p.Leu2130Phe)
c.6468A>C (p.Leu2156Phe)
c.6465A>C (p.Leu2155Phe)
c.6435A>C (p.Leu2145Phe)
n.6749A>C
c.6447A>C (p.Leu2149Phe)
n.6782A>C
1g.237628078A>GCA087102RYR2c.6438A>G (p.Leu2146=)
c.6390A>G (p.Leu2130=)
c.6468A>G (p.Leu2156=)
c.6465A>G (p.Leu2155=)
c.6435A>G (p.Leu2145=)
n.6749A>G
c.6447A>G (p.Leu2149=)
n.6782A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.237628078A>TCA345411550RYR2c.6438A>T (p.Leu2146Phe)
c.6390A>T (p.Leu2130Phe)
c.6468A>T (p.Leu2156Phe)
c.6465A>T (p.Leu2155Phe)
c.6435A>T (p.Leu2145Phe)
n.6749A>T
c.6447A>T (p.Leu2149Phe)
n.6782A>T
1g.237628079G>ACA345411551RYR2c.6439G>A (p.Gly2147Arg)
c.6391G>A (p.Gly2131Arg)
c.6469G>A (p.Gly2157Arg)
c.6466G>A (p.Gly2156Arg)
c.6436G>A (p.Gly2146Arg)
n.6750G>A
c.6448G>A (p.Gly2150Arg)
n.6783G>A
1g.237628079G>CCA345411552RYR2c.6439G>C (p.Gly2147Arg)
c.6391G>C (p.Gly2131Arg)
c.6469G>C (p.Gly2157Arg)
c.6466G>C (p.Gly2156Arg)
c.6436G>C (p.Gly2146Arg)
n.6750G>C
c.6448G>C (p.Gly2150Arg)
n.6783G>C
1g.237628079G>TCA345411553RYR2c.6439G>T (p.Gly2147Trp)
c.6391G>T (p.Gly2131Trp)
c.6469G>T (p.Gly2157Trp)
c.6466G>T (p.Gly2156Trp)
c.6436G>T (p.Gly2146Trp)
n.6750G>T
c.6448G>T (p.Gly2150Trp)
n.6783G>T
1g.237628080G>ACA345411554RYR2c.6440G>A (p.Gly2147Glu)
c.6392G>A (p.Gly2131Glu)
c.6470G>A (p.Gly2157Glu)
c.6467G>A (p.Gly2156Glu)
c.6437G>A (p.Gly2146Glu)
n.6751G>A
c.6449G>A (p.Gly2150Glu)
n.6784G>A
 gnomAD v4
1g.237628080G>CCA345411555RYR2c.6440G>C (p.Gly2147Ala)
c.6392G>C (p.Gly2131Ala)
c.6470G>C (p.Gly2157Ala)
c.6467G>C (p.Gly2156Ala)
c.6437G>C (p.Gly2146Ala)
n.6751G>C
c.6449G>C (p.Gly2150Ala)
n.6784G>C
1g.237628080G>TCA345411556RYR2c.6440G>T (p.Gly2147Val)
c.6392G>T (p.Gly2131Val)
c.6470G>T (p.Gly2157Val)
c.6467G>T (p.Gly2156Val)
c.6437G>T (p.Gly2146Val)
n.6751G>T
c.6449G>T (p.Gly2150Val)
n.6784G>T
1g.237628081G>ACA345411559RYR2c.6440+1G>A (n.6440+1G>A)
c.6392+1G>A (n.6392+1G>A)
c.6470+1G>A (n.6470+1G>A)
c.6467+1G>A (n.6467+1G>A)
c.6437+1G>A (n.6437+1G>A)
n.6751+1G>A
c.6449+1G>A (n.6449+1G>A)
n.6784+1G>A
1g.237628081G>CCA345411558RYR2c.6440+1G>C (n.6440+1G>C)
c.6392+1G>C (n.6392+1G>C)
c.6470+1G>C (n.6470+1G>C)
c.6467+1G>C (n.6467+1G>C)
c.6437+1G>C (n.6437+1G>C)
n.6751+1G>C
c.6449+1G>C (n.6449+1G>C)
n.6784+1G>C
1g.237628081G>TCA345411557RYR2c.6440+1G>T (n.6440+1G>T)
c.6392+1G>T (n.6392+1G>T)
c.6470+1G>T (n.6470+1G>T)
c.6467+1G>T (n.6467+1G>T)
c.6437+1G>T (n.6437+1G>T)
n.6751+1G>T
c.6449+1G>T (n.6449+1G>T)
n.6784+1G>T
1g.237628082T>ACA345411560RYR2c.6440+2T>A (n.6440+2T>A)
c.6392+2T>A (n.6392+2T>A)
c.6470+2T>A (n.6470+2T>A)
c.6467+2T>A (n.6467+2T>A)
c.6437+2T>A (n.6437+2T>A)
n.6751+2T>A
c.6449+2T>A (n.6449+2T>A)
n.6784+2T>A
1g.237628082T>CCA345411561RYR2c.6440+2T>C (n.6440+2T>C)
c.6392+2T>C (n.6392+2T>C)
c.6470+2T>C (n.6470+2T>C)
c.6467+2T>C (n.6467+2T>C)
c.6437+2T>C (n.6437+2T>C)
n.6751+2T>C
c.6449+2T>C (n.6449+2T>C)
n.6784+2T>C
1g.237628082T>GCA345411562RYR2c.6440+2T>G (n.6440+2T>G)
c.6392+2T>G (n.6392+2T>G)
c.6470+2T>G (n.6470+2T>G)
c.6467+2T>G (n.6467+2T>G)
c.6437+2T>G (n.6437+2T>G)
n.6751+2T>G
c.6449+2T>G (n.6449+2T>G)
n.6784+2T>G
1g.237628084A>GCA2573718698RYR2c.6440+4A>G (n.6440+4A>G)
c.6392+4A>G (n.6392+4A>G)
c.6470+4A>G (n.6470+4A>G)
c.6467+4A>G (n.6467+4A>G)
c.6437+4A>G (n.6437+4A>G)
n.6751+4A>G
c.6449+4A>G (n.6449+4A>G)
n.6784+4A>G
1g.237628085A=CA2487418031RYR2c.6440+5A= (n.6440+5A=)
c.6392+5A= (n.6392+5A=)
c.6470+5A= (n.6470+5A=)
c.6467+5A= (n.6467+5A=)
c.6437+5A= (n.6437+5A=)
n.6751+5A=
c.6449+5A= (n.6449+5A=)
n.6784+5A=
1g.237628085A>GCA423821970RYR2c.6440+5A>G (n.6440+5A>G)
c.6392+5A>G (n.6392+5A>G)
c.6470+5A>G (n.6470+5A>G)
c.6467+5A>G (n.6467+5A>G)
c.6437+5A>G (n.6437+5A>G)
n.6751+5A>G
c.6449+5A>G (n.6449+5A>G)
n.6784+5A>G
 dbSNP
1g.237628086T>CCA087113RYR2c.6440+6T>C (n.6440+6T>C)
c.6392+6T>C (n.6392+6T>C)
c.6470+6T>C (n.6470+6T>C)
c.6467+6T>C (n.6467+6T>C)
c.6437+6T>C (n.6437+6T>C)
n.6751+6T>C
c.6449+6T>C (n.6449+6T>C)
n.6784+6T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237628086T=CA2487418032RYR2c.6440+6T= (n.6440+6T=)
c.6392+6T= (n.6392+6T=)
c.6470+6T= (n.6470+6T=)
c.6467+6T= (n.6467+6T=)
c.6437+6T= (n.6437+6T=)
n.6751+6T=
c.6449+6T= (n.6449+6T=)
n.6784+6T=
1g.237628087T>CCA2651204076RYR2c.6440+7T>C (n.6440+7T>C)
c.6392+7T>C (n.6392+7T>C)
c.6470+7T>C (n.6470+7T>C)
c.6467+7T>C (n.6467+7T>C)
c.6437+7T>C (n.6437+7T>C)
n.6751+7T>C
c.6449+7T>C (n.6449+7T>C)
n.6784+7T>C
 gnomAD v4
1g.237628087T>GCA2572275424RYR2c.6440+7T>G (n.6440+7T>G)
c.6392+7T>G (n.6392+7T>G)
c.6470+7T>G (n.6470+7T>G)
c.6467+7T>G (n.6467+7T>G)
c.6437+7T>G (n.6437+7T>G)
n.6751+7T>G
c.6449+7T>G (n.6449+7T>G)
n.6784+7T>G

Number of alleles fetched