Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.237627988C>A | CA423821906 | RYR2 | c.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 |
1 | g.237627988C= | CA2487418007 | RYR2 | c.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= | |
1 | g.237627988C>G | CA423821907 | RYR2 | c.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 | |
1 | g.237627988C>T | CA423821908 | RYR2 | c.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 |
1 | g.237627989A= | CA2487418008 | RYR2 | c.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= | |
1 | g.237627989A>C | CA345411359 | RYR2 | c.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 | ClinVar gnomAD v4 |
1 | g.237627989A>G | CA39839686 | RYR2 | c.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 |
1 | g.237627989A>T | CA345411360 | RYR2 | c.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 | |
1 | g.237627990T>A | CA345411361 | RYR2 | c.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 | |
1 | g.237627990T>C | CA345411362 | RYR2 | c.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 |
1 | g.237627990T>G | CA345411363 | RYR2 | c.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 | |
1 | g.237627991C>A | CA423821909 | RYR2 | c.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 | |
1 | g.237627991C>G | CA345411364 | RYR2 | c.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 | |
1 | g.237627991C>T | CA423821910 | RYR2 | c.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 | |
1 | g.237627992A>C | CA345411365 | RYR2 | c.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 | |
1 | g.237627992A>G | CA345411367 | RYR2 | c.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 |
1 | g.237627992A>T | CA345411366 | RYR2 | c.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 | |
1 | g.237627993A>C | CA345411368 | RYR2 | c.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 | |
1 | g.237627993A>G | CA345411369 | RYR2 | c.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 | |
1 | g.237627993A>T | CA345411370 | RYR2 | c.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 |
1 | g.237627994C>A | CA345411371 | RYR2 | c.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 | |
1 | g.237627994C>G | CA345411372 | RYR2 | c.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 | |
1 | g.237627994C>T | CA423821911 | RYR2 | c.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 |
1 | g.237627995C>A | CA345411373 | RYR2 | c.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 | |
1 | g.237627995C>G | CA345411374 | RYR2 | c.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 | |
1 | g.237627995C>T | CA423821912 | RYR2 | c.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 | |
1 | g.237627996T>A | CA345411375 | RYR2 | c.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 | |
1 | g.237627996T>C | CA087096 | RYR2 | c.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 |
1 | g.237627996T>G | CA345411376 | RYR2 | c.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 | |
1 | g.237627996T= | CA1148721206 | RYR2 | c.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= | |
1 | g.237627997G>A | CA423821913 | RYR2 | c.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 | |
1 | g.237627997G>C | CA423821914 | RYR2 | c.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 | |
1 | g.237627997G>T | CA423821915 | RYR2 | c.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 | |
1 | g.237627998C>A | CA345411377 | RYR2 | c.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 |
1 | g.237627998C= | CA2487418009 | RYR2 | c.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= | |
1 | g.237627998C>G | CA345411378 | RYR2 | c.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 | |
1 | g.237627998C>T | CA423821916 | RYR2 | c.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 |
1 | g.237627999T>A | CA345411379 | RYR2 | c.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 | |
1 | g.237627999T>C | CA345411381 | RYR2 | c.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 | |
1 | g.237627999T>G | CA345411380 | RYR2 | c.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 | |
1 | g.237628000G>A | CA423821919 | RYR2 | c.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 |
1 | g.237628000G>C | CA423821918 | RYR2 | c.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 | |
1 | g.237628000G>T | CA423821917 | RYR2 | c.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 |
1 | g.237628001G>A | CA345411382 | RYR2 | c.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 | |
1 | g.237628001G>C | CA345411383 | RYR2 | c.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 | |
1 | g.237628001G>T | CA345411384 | RYR2 | c.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 |
1 | g.237628002C>A | CA345411385 | RYR2 | c.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 | |
1 | g.237628002C>G | CA345411386 | RYR2 | c.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 | |
1 | g.237628002C>T | CA074840 | RYR2 | c.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 |
1 | g.237628003A>C | CA423821920 | RYR2 | c.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 |
1 | g.237628003A>G | CA423821921 | RYR2 | c.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 | |
1 | g.237628003A>T | CA423821922 | RYR2 | c.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 |
1 | g.237628004T>A | CA345411387 | RYR2 | c.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 | |
1 | g.237628004T>C | CA345411388 | RYR2 | c.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 | |
1 | g.237628004T>G | CA345411389 | RYR2 | c.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 | |
1 | g.237628005C>A | CA345411390 | RYR2 | c.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 |
1 | g.237628005C>G | CA345411391 | RYR2 | c.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 | |
1 | g.237628005C>T | CA345411392 | RYR2 | c.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 | |
1 | g.237628006C>A | CA423821923 | RYR2 | c.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 |
1 | g.237628006C>G | CA423821925 | RYR2 | c.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 | |
1 | g.237628006C>T | CA423821924 | RYR2 | c.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 |
1 | g.237628007C>A | CA345411394 | RYR2 | c.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 | |
1 | g.237628007C= | CA2487418010 | RYR2 | c.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= | |
1 | g.237628007C>G | CA345411393 | RYR2 | c.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 | |
1 | g.237628007C>T | CA16610076 | RYR2 | c.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 |
1 | g.237628008T>A | CA345411395 | RYR2 | c.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 | |
1 | g.237628008T>C | CA345411396 | RYR2 | c.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 | |
1 | g.237628008T>G | CA345411397 | RYR2 | c.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 | |
1 | g.237628009T>A | CA423821926 | RYR2 | c.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 | |
1 | g.237628009T>C | CA074846 | RYR2 | c.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 |
1 | g.237628009T>G | CA423821927 | RYR2 | c.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 |
1 | g.237628009T= | CA2487418011 | RYR2 | c.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= | |
1 | g.237628010G>A | CA345411398 | RYR2 | c.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 | ClinVar |
1 | g.237628010G>C | CA345411399 | RYR2 | c.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 | |
1 | g.237628010G>T | CA345411400 | RYR2 | c.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 | |
1 | g.237628011G>A | CA345411401 | RYR2 | c.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 | |
1 | g.237628011G>C | CA345411402 | RYR2 | c.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 | |
1 | g.237628011G>T | CA345411403 | RYR2 | c.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 |
1 | g.237628012T>A | CA423821928 | RYR2 | c.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 | |
1 | g.237628012T>C | CA423821930 | RYR2 | c.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 | |
1 | g.237628012T>G | CA423821929 | RYR2 | c.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 | |
1 | g.237628013C>A | CA345411404 | RYR2 | c.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 | |
1 | g.237628013C>G | CA345411405 | RYR2 | c.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 | |
1 | g.237628013C>T | CA345411406 | RYR2 | c.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 | |
1 | g.237628014A= | CA2487418012 | RYR2 | c.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= | |
1 | g.237628014A>C | CA345411407 | RYR2 | c.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 | |
1 | g.237628014A>G | CA345411409 | RYR2 | c.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 |
1 | g.237628014A>T | CA345411408 | RYR2 | c.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 | |
1 | g.237628015G>A | CA423821931 | RYR2 | c.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 | |
1 | g.237628015G>C | CA345411410 | RYR2 | c.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 | |
1 | g.237628015G>T | CA345411411 | RYR2 | c.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 | |
1 | g.237628016A>C | CA345411412 | RYR2 | c.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 | |
1 | g.237628016A>G | CA345411413 | RYR2 | c.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 | |
1 | g.237628016A>T | CA345411414 | RYR2 | c.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 | |
1 | g.237628016_237628019del | CA2651204074 | RYR2 | c.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 |
1 | g.237628017T>A | CA345411415 | RYR2 | c.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 | |
1 | g.237628017T>C | CA345411416 | RYR2 | c.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 | |
1 | g.237628017T>G | CA345411417 | RYR2 | c.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 | |
1 | g.237628018T>A | CA423821932 | RYR2 | c.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 | |
1 | g.237628018T>C | CA423821933 | RYR2 | c.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 | |
1 | g.237628018T>G | CA345411418 | RYR2 | c.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 | |
1 | g.237628019C>A | CA423821934 | RYR2 | c.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 |
1 | g.237628019C= | CA2487418013 | RYR2 | c.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= | |
1 | g.237628019C>G | CA087097 | RYR2 | c.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 |
1 | g.237628019C>T | CA345411419 | RYR2 | c.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 |
1 | g.237628020G>A | CA010117 | RYR2 | c.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 |
1 | g.237628020G>C | CA345411420 | RYR2 | c.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 | |
1 | g.237628020G= | CA1144229283 | RYR2 | c.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= | |
1 | g.237628020G>T | CA345411421 | RYR2 | c.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 |
1 | g.237628021G>A | CA423821937 | RYR2 | c.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 |
1 | g.237628021G>C | CA423821935 | RYR2 | c.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 | |
1 | g.237628021G>T | CA423821936 | RYR2 | c.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 |
1 | g.237628022T>A | CA345411422 | RYR2 | c.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 | |
1 | g.237628022T>C | CA345411423 | RYR2 | c.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 | |
1 | g.237628022T>G | CA345411424 | RYR2 | c.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 | |
1 | g.237628022_237628024del | CA2651204075 | RYR2 | c.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 |
1 | g.237628023C>A | CA345411425 | RYR2 | c.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 | |
1 | g.237628023C>G | CA345411427 | RYR2 | c.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 | |
1 | g.237628023C>T | CA345411426 | RYR2 | c.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 |
1 | g.237628024C>A | CA423821938 | RYR2 | c.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 | |
1 | g.237628024C= | CA2487418014 | RYR2 | c.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= | |
1 | g.237628024C>G | CA423821939 | RYR2 | c.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 |
1 | g.237628024C>T | CA423821940 | RYR2 | c.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 |
1 | g.237628025C>A | CA345411428 | RYR2 | c.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 |
1 | g.237628025C>G | CA345411429 | RYR2 | c.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 | |
1 | g.237628025C>T | CA423821941 | RYR2 | c.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 |
1 | g.237628026T>A | CA345411430 | RYR2 | c.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 | |
1 | g.237628026T>C | CA345411431 | RYR2 | c.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 |
1 | g.237628026T>G | CA345411432 | RYR2 | c.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 | |
1 | g.237628026T= | CA2487418015 | RYR2 | c.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= | |
1 | g.237628027G>A | CA423821942 | RYR2 | c.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 | |
1 | g.237628027G>C | CA423821943 | RYR2 | c.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 | |
1 | g.237628027G>T | CA423821944 | RYR2 | c.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 | |
1 | g.237628028C>A | CA345411433 | RYR2 | c.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 | |
1 | g.237628028C= | CA2487418016 | RYR2 | c.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= | |
1 | g.237628028C>G | CA345411434 | RYR2 | c.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 | |
1 | g.237628028C>T | CA423821945 | RYR2 | c.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 |
1 | g.237628029T>A | CA345411435 | RYR2 | c.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 | |
1 | g.237628029T>C | CA345411436 | RYR2 | c.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 | |
1 | g.237628029T>G | CA345411437 | RYR2 | c.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 | |
1 | g.237628030G>A | CA423821946 | RYR2 | c.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 |
1 | g.237628030G>C | CA39839698 | RYR2 | c.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 |
1 | g.237628030G= | CA2487418017 | RYR2 | c.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= | |
1 | g.237628030G>T | CA087098 | RYR2 | c.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 |
1 | g.237628031A>C | CA345411440 | RYR2 | c.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 |
1 | g.237628031A>G | CA345411438 | RYR2 | c.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 | |
1 | g.237628031A>T | CA345411439 | RYR2 | c.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 | |
1 | g.237628032G>A | CA345411441 | RYR2 | c.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 | |
1 | g.237628032G>C | CA345411442 | RYR2 | c.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 | |
1 | g.237628032G>T | CA345411443 | RYR2 | c.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 | |
1 | g.237628033T>A | CA345411444 | RYR2 | c.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 | |
1 | g.237628033T>C | CA087099 | RYR2 | c.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 |
1 | g.237628033T>G | CA345411445 | RYR2 | c.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 | |
1 | g.237628033T= | CA1143706217 | RYR2 | c.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= | |
1 | g.237628034G>A | CA345411448 | RYR2 | c.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 | |
1 | g.237628034G>C | CA345411446 | RYR2 | c.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 |
1 | g.237628034G= | CA2487418018 | RYR2 | c.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= | |
1 | g.237628034G>T | CA345411447 | RYR2 | c.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 | |
1 | g.237628035T>A | CA345411449 | RYR2 | c.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 | |
1 | g.237628035T>C | CA345411450 | RYR2 | c.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 | |
1 | g.237628035T>G | CA345411451 | RYR2 | c.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 | |
1 | g.237628036G>A | CA39839719 | RYR2 | c.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 |
1 | g.237628036G>C | CA423821947 | RYR2 | c.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 | |
1 | g.237628036G= | CA2487418019 | RYR2 | c.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= | |
1 | g.237628036G>T | CA423821948 | RYR2 | c.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 | |
1 | g.237628037A= | CA2487418020 | RYR2 | c.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= | |
1 | g.237628037A>C | CA39839723 | RYR2 | c.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 |
1 | g.237628037A>G | CA345411452 | RYR2 | c.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 | |
1 | g.237628037A>T | CA345411453 | RYR2 | c.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 | |
1 | g.237628038G>A | CA345411454 | RYR2 | c.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 |
1 | g.237628038G>C | CA345411456 | RYR2 | c.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 | |
1 | g.237628038G>T | CA345411455 | RYR2 | c.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 | |
1 | g.237628039A>C | CA345411457 | RYR2 | c.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 | |
1 | g.237628039A>G | CA423821949 | RYR2 | c.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 | |
1 | g.237628039A>T | CA345411458 | RYR2 | c.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 | |
1 | g.237628040A>C | CA345411459 | RYR2 | c.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 | |
1 | g.237628040A>G | CA345411460 | RYR2 | c.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 | |
1 | g.237628040A>T | CA345411461 | RYR2 | c.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 | |
1 | g.237628041T>A | CA345411462 | RYR2 | c.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 | |
1 | g.237628041T>C | CA345411463 | RYR2 | c.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 | |
1 | g.237628041T>G | CA345411464 | RYR2 | c.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 |
1 | g.237628041T= | CA2487418021 | RYR2 | c.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= | |
1 | g.237628042G>A | CA345411465 | RYR2 | c.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 | |
1 | g.237628042G>C | CA345411466 | RYR2 | c.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 | |
1 | g.237628042G>T | CA345411467 | RYR2 | c.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 | |
1 | g.237628043G>A | CA345411468 | RYR2 | c.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 | |
1 | g.237628043G>C | CA345411470 | RYR2 | c.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 | |
1 | g.237628043G>T | CA345411469 | RYR2 | c.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 | |
1 | g.237628044G>A | CA345411471 | RYR2 | c.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 |
1 | g.237628044G>C | CA345411473 | RYR2 | c.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 | |
1 | g.237628044G>T | CA345411472 | RYR2 | c.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 |
1 | g.237628045C>A | CA423821950 | RYR2 | c.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 | |
1 | g.237628045C>G | CA423821951 | RYR2 | c.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 | |
1 | g.237628045C>T | CA423821952 | RYR2 | c.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 | |
1 | g.237628046A>C | CA345411474 | RYR2 | c.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 | |
1 | g.237628046A>G | CA345411475 | RYR2 | c.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 | |
1 | g.237628046A>T | CA345411476 | RYR2 | c.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 | |
1 | g.237628047A>C | CA345411477 | RYR2 | c.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 | |
1 | g.237628047A>G | CA345411478 | RYR2 | c.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 | |
1 | g.237628047A>T | CA345411479 | RYR2 | c.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 | |
1 | g.237628048A>C | CA345411480 | RYR2 | c.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 |
1 | g.237628048A>G | CA423821953 | RYR2 | c.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 | |
1 | g.237628048A>T | CA345411481 | RYR2 | c.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 | |
1 | g.237628049G>A | CA345411482 | RYR2 | c.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 | ClinVar gnomAD v4 |
1 | g.237628049G>C | CA345411483 | RYR2 | c.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 | |
1 | g.237628049G>T | CA345411484 | RYR2 | c.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 | |
1 | g.237628050A= | CA2487418022 | RYR2 | c.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= | |
1 | g.237628050A>C | CA345411487 | RYR2 | c.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 |
1 | g.237628050A>G | CA345411485 | RYR2 | c.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 | |
1 | g.237628050A>T | CA345411486 | RYR2 | c.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 | |
1 | g.237628051A>C | CA345411488 | RYR2 | c.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 | |
1 | g.237628051A>G | CA423821954 | RYR2 | c.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 |
1 | g.237628051A>T | CA345411489 | RYR2 | c.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 | |
1 | g.237628052G>A | CA345411490 | RYR2 | c.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 |
1 | g.237628052G>C | CA345411491 | RYR2 | c.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 | |
1 | g.237628052G= | CA2487418023 | RYR2 | c.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= | |
1 | g.237628052G>T | CA345411492 | RYR2 | c.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 | |
1 | g.237628053A>C | CA345411493 | RYR2 | c.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 | |
1 | g.237628053A>G | CA345411494 | RYR2 | c.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 | |
1 | g.237628053A>T | CA345411495 | RYR2 | c.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 | |
1 | g.237628054A>C | CA345411496 | RYR2 | c.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 | |
1 | g.237628054A>G | CA423821955 | RYR2 | c.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 |
1 | g.237628054A>T | CA345411497 | RYR2 | c.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 | |
1 | g.237628055G>A | CA345411499 | RYR2 | c.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 | |
1 | g.237628055G>C | CA345411500 | RYR2 | c.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 |
1 | g.237628055G= | CA2487418024 | RYR2 | c.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= | |
1 | g.237628055G>T | CA345411498 | RYR2 | c.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 | |
1 | g.237628056A>C | CA345411501 | RYR2 | c.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 |
1 | g.237628056A>G | CA345411502 | RYR2 | c.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 | |
1 | g.237628056A>T | CA345411503 | RYR2 | c.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 | |
1 | g.237628057G>A | CA423821956 | RYR2 | c.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 | |
1 | g.237628057G>C | CA345411504 | RYR2 | c.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 | |
1 | g.237628057G>T | CA345411505 | RYR2 | c.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 |
1 | g.237628058A>C | CA345411508 | RYR2 | c.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 | |
1 | g.237628058A>G | CA345411506 | RYR2 | c.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 | |
1 | g.237628058A>T | CA345411507 | RYR2 | c.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 |
1 | g.237628059A= | CA2487418025 | RYR2 | c.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= | |
1 | g.237628059A>C | CA345411509 | RYR2 | c.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 |
1 | g.237628059A>G | CA345411510 | RYR2 | c.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 |
1 | g.237628059A>T | CA345411511 | RYR2 | c.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 | |
1 | g.237628060G>A | CA423821957 | RYR2 | c.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 |
1 | g.237628060G>C | CA345411512 | RYR2 | c.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 | |
1 | g.237628060G>T | CA345411513 | RYR2 | c.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 | |
1 | g.237628061C>A | CA345411514 | RYR2 | c.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 | |
1 | g.237628061C>G | CA074874 | RYR2 | c.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 | |
1 | g.237628061C>T | CA345411515 | RYR2 | c.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 | |
1 | g.237628062T>A | CA345411516 | RYR2 | c.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 | |
1 | g.237628062T>C | CA345411517 | RYR2 | c.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 | |
1 | g.237628062T>G | CA345411518 | RYR2 | c.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 | |
1 | g.237628063C>A | CA423821958 | RYR2 | c.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 | |
1 | g.237628063C>G | CA423821959 | RYR2 | c.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 | |
1 | g.237628063C>T | CA423821960 | RYR2 | c.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 |
1 | g.237628064A>C | CA345411519 | RYR2 | c.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 |
1 | g.237628064A>G | CA345411520 | RYR2 | c.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 | ClinVar |
1 | g.237628064A>T | CA345411521 | RYR2 | c.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 | |
1 | g.237628065T>A | CA345411522 | RYR2 | c.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 | |
1 | g.237628065T>C | CA345411523 | RYR2 | c.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 |
1 | g.237628065T>G | CA345411524 | RYR2 | c.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 | |
1 | g.237628066G>A | CA345411525 | RYR2 | c.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 | |
1 | g.237628066G>C | CA345411526 | RYR2 | c.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 | |
1 | g.237628066G>T | CA345411527 | RYR2 | c.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 | |
1 | g.237628067A>C | CA345411529 | RYR2 | c.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 | |
1 | g.237628067A>G | CA345411530 | RYR2 | c.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 | |
1 | g.237628067A>T | CA345411528 | RYR2 | c.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 | |
1 | g.237628068T>A | CA345411532 | RYR2 | c.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 | |
1 | g.237628068T>C | CA345411531 | RYR2 | c.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 |
1 | g.237628068T>G | CA345411533 | RYR2 | c.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 |
1 | g.237628069T>A | CA423821962 | RYR2 | c.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 |
1 | g.237628069T>C | CA423821961 | RYR2 | c.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 | |
1 | g.237628069T>G | CA345411534 | RYR2 | c.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 | |
1 | g.237628070C>A | CA345411535 | RYR2 | c.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 |
1 | g.237628070C= | CA2487418026 | RYR2 | c.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= | |
1 | g.237628070C>G | CA345411536 | RYR2 | c.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 |
1 | g.237628070C>T | CA087100 | RYR2 | c.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 |
1 | g.237628071G>A | CA345411537 | RYR2 | c.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 |
1 | g.237628071G>C | CA345411538 | RYR2 | c.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 | |
1 | g.237628071G= | CA2487418027 | RYR2 | c.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= | |
1 | g.237628071G>T | CA345411539 | RYR2 | c.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 | ClinVar |
1 | g.237628072T>A | CA423821963 | RYR2 | c.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 | |
1 | g.237628072T>C | CA423821964 | RYR2 | c.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 |
1 | g.237628072T>G | CA423821965 | RYR2 | c.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 | |
1 | g.237628073G>A | CA345411540 | RYR2 | c.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 | |
1 | g.237628073G>C | CA010129 | RYR2 | c.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 |
1 | g.237628073G= | CA1148225072 | RYR2 | c.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= | |
1 | g.237628073G>T | CA345411541 | RYR2 | c.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 | |
1 | g.237628074G>A | CA345411542 | RYR2 | c.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 |
1 | g.237628074G>C | CA345411543 | RYR2 | c.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 | |
1 | g.237628074G= | CA2487418028 | RYR2 | c.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= | |
1 | g.237628074G>T | CA345411544 | RYR2 | c.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 | |
1 | g.237628075A= | CA2487418029 | RYR2 | c.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= | |
1 | g.237628075A>C | CA423821966 | RYR2 | c.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 | |
1 | g.237628075A>G | CA423821968 | RYR2 | c.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 |
1 | g.237628075A>T | CA423821967 | RYR2 | c.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 |
1 | g.237628076T>A | CA345411545 | RYR2 | c.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 | |
1 | g.237628076T>C | CA423821969 | RYR2 | c.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 | |
1 | g.237628076T>G | CA087101 | RYR2 | c.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 |
1 | g.237628076T= | CA1148280427 | RYR2 | c.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= | |
1 | g.237628077T>A | CA345411546 | RYR2 | c.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 | |
1 | g.237628077T>C | CA345411547 | RYR2 | c.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 |
1 | g.237628077T>G | CA345411548 | RYR2 | c.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 | |
1 | g.237628078A= | CA2487418030 | RYR2 | c.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= | |
1 | g.237628078A>C | CA345411549 | RYR2 | c.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 | |
1 | g.237628078A>G | CA087102 | RYR2 | c.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 |
1 | g.237628078A>T | CA345411550 | RYR2 | c.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 | |
1 | g.237628079G>A | CA345411551 | RYR2 | c.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 | |
1 | g.237628079G>C | CA345411552 | RYR2 | c.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 | ClinVar |
1 | g.237628079G>T | CA345411553 | RYR2 | c.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 | |
1 | g.237628080G>A | CA345411554 | RYR2 | c.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 |
1 | g.237628080G>C | CA345411555 | RYR2 | c.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 | |
1 | g.237628080G>T | CA345411556 | RYR2 | c.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 | |
1 | g.237628081G>A | CA345411559 | RYR2 | c.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 | |
1 | g.237628081G>C | CA345411558 | RYR2 | c.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 | |
1 | g.237628081G>T | CA345411557 | RYR2 | c.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 | |
1 | g.237628082T>A | CA345411560 | RYR2 | c.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 | |
1 | g.237628082T>C | CA345411561 | RYR2 | c.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 | |
1 | g.237628082T>G | CA345411562 | RYR2 | c.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 | |
1 | g.237628084A>G | CA2573718698 | RYR2 | c.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 | |
1 | g.237628085A= | CA2487418031 | RYR2 | c.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= | |
1 | g.237628085A>G | CA423821970 | RYR2 | c.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 | ClinVar dbSNP |
1 | g.237628086T>C | CA087113 | RYR2 | c.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 |
1 | g.237628086T= | CA2487418032 | RYR2 | c.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= | |
1 | g.237628087T>C | CA2651204076 | RYR2 | c.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 |
1 | g.237628087T>G | CA2572275424 | RYR2 | c.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 |