Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38499138C>A | CA405667163 | RYR1 | c.6922C>A (p.Gln2308Lys) c.6919C>A (p.Gln2307Lys) c.374C>A n.7005C>A | |
19 | g.38499138C>G | CA405667164 | RYR1 | c.6922C>G (p.Gln2308Glu) c.6919C>G (p.Gln2307Glu) c.374C>G n.7005C>G | |
19 | g.38499138C>T | CA405667166 | RYR1 | c.6922C>T (p.Gln2308Ter) c.6919C>T (p.Gln2307Ter) c.374C>T n.7005C>T | |
19 | g.38499139A>C | CA405667168 | RYR1 | c.6923A>C (p.Gln2308Pro) c.6920A>C (p.Gln2307Pro) c.375A>C n.7006A>C | |
19 | g.38499139A>G | CA405667169 | RYR1 | c.6923A>G (p.Gln2308Arg) c.6920A>G (p.Gln2307Arg) c.375A>G n.7006A>G | |
19 | g.38499139A>T | CA405667171 | RYR1 | c.6923A>T (p.Gln2308Leu) c.6920A>T (p.Gln2307Leu) c.375A>T n.7006A>T | ClinVar |
19 | g.38499140G>A | CA507243141 | RYR1 | c.6924G>A (p.Gln2308=) c.6921G>A (p.Gln2307=) c.376G>A n.7007G>A | |
19 | g.38499140G>C | CA405667174 | RYR1 | c.6924G>C (p.Gln2308His) c.6921G>C (p.Gln2307His) c.376G>C n.7007G>C | |
19 | g.38499140G>T | CA405667173 | RYR1 | c.6924G>T (p.Gln2308His) c.6921G>T (p.Gln2307His) c.376G>T n.7007G>T | |
19 | g.38499141A>C | CA405667177 | RYR1 | c.6925A>C (p.Ser2309Arg) c.6922A>C (p.Ser2308Arg) c.377A>C n.7008A>C | |
19 | g.38499141A>G | CA405667179 | RYR1 | c.6925A>G (p.Ser2309Gly) c.6922A>G (p.Ser2308Gly) c.377A>G n.7008A>G | |
19 | g.38499141A>T | CA405667180 | RYR1 | c.6925A>T (p.Ser2309Cys) c.6922A>T (p.Ser2308Cys) c.377A>T n.7008A>T | |
19 | g.38499142G>A | CA405667182 | RYR1 | c.6926G>A (p.Ser2309Asn) c.6923G>A (p.Ser2308Asn) c.378G>A n.7009G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38499142G>C | CA405667183 | RYR1 | c.6926G>C (p.Ser2309Thr) c.6923G>C (p.Ser2308Thr) c.378G>C n.7009G>C | |
19 | g.38499142G>T | CA405667184 | RYR1 | c.6926G>T (p.Ser2309Ile) c.6923G>T (p.Ser2308Ile) c.378G>T n.7009G>T | |
19 | g.38499143C>A | CA405667185 | RYR1 | c.6927C>A (p.Ser2309Arg) c.6924C>A (p.Ser2308Arg) c.379C>A n.7010C>A | |
19 | g.38499143C>G | CA405667187 | RYR1 | c.6927C>G (p.Ser2309Arg) c.6924C>G (p.Ser2308Arg) c.379C>G n.7010C>G | |
19 | g.38499143C>T | CA507243147 | RYR1 | c.6927C>T (p.Ser2309=) c.6924C>T (p.Ser2308=) c.379C>T n.7010C>T | |
19 | g.38499144T>A | CA405667188 | RYR1 | c.6928T>A (p.Cys2310Ser) c.6925T>A (p.Cys2309Ser) c.380T>A n.7011T>A | |
19 | g.38499144T>C | CA405667190 | RYR1 | c.6928T>C (p.Cys2310Arg) c.6925T>C (p.Cys2309Arg) c.380T>C n.7011T>C | dbSNP |
19 | g.38499144T>G | CA405667191 | RYR1 | c.6928T>G (p.Cys2310Gly) c.6925T>G (p.Cys2309Gly) c.380T>G n.7011T>G | |
19 | g.38499144T= | CA2335052601 | RYR1 | c.6928T= (p.Cys2310=) c.6925T= (p.Cys2309=) c.380T= n.7011T= | |
19 | g.38499144_38499145delinsTG | CA2335052600 | RYR1 | c.6928_6929delinsTG (p.Cys2310=) c.6925_6926delinsTG (p.Cys2309=) c.380_381delinsTG n.7011_7012delinsTG | |
19 | g.38499145del | CA2335052602 | RYR1 | c.6929del (p.Cys2310SerfsTer?) c.6926del (p.Cys2309SerfsTer?) c.381del n.7012del | dbSNP |
19 | g.38499145G>A | CA405667193 | RYR1 | c.6929G>A (p.Cys2310Tyr) c.6926G>A (p.Cys2309Tyr) c.381G>A n.7012G>A | |
19 | g.38499145G>C | CA405667195 | RYR1 | c.6929G>C (p.Cys2310Ser) c.6926G>C (p.Cys2309Ser) c.381G>C n.7012G>C | |
19 | g.38499145G= | CA2335052603 | RYR1 | c.6929G= (p.Cys2310=) c.6926G= (p.Cys2309=) c.381G= n.7012G= | |
19 | g.38499145G>T | CA405667196 | RYR1 | c.6929G>T (p.Cys2310Phe) c.6926G>T (p.Cys2309Phe) c.381G>T n.7012G>T | COSMIC |
19 | g.38499146C>A | CA405667198 | RYR1 | c.6930C>A (p.Cys2310Ter) c.6927C>A (p.Cys2309Ter) c.382C>A n.7013C>A | |
19 | g.38499146C>G | CA405667200 | RYR1 | c.6930C>G (p.Cys2310Trp) c.6927C>G (p.Cys2309Trp) c.382C>G n.7013C>G | COSMIC |
19 | g.38499146C>T | CA507243150 | RYR1 | c.6930C>T (p.Cys2310=) c.6927C>T (p.Cys2309=) c.382C>T n.7013C>T | |
19 | g.38499149dup | CA916082460 | RYR1 | c.6933dup (p.Met2312HisfsTer?) c.6930dup (p.Met2311HisfsTer?) c.385dup n.7016dup | ClinVar dbSNP |
19 | g.38499149del | CA2695228664 | RYR1 | c.6933del (p.Met2312CysfsTer?) c.6930del (p.Met2311CysfsTer?) c.385del n.7016del | |
19 | g.38499147C>A | CA405667202 | RYR1 | c.6931C>A (p.Pro2311Thr) c.6928C>A (p.Pro2310Thr) c.383C>A n.7014C>A | |
19 | g.38499147C>G | CA405667203 | RYR1 | c.6931C>G (p.Pro2311Ala) c.6928C>G (p.Pro2310Ala) c.383C>G n.7014C>G | |
19 | g.38499147C>T | CA405667205 | RYR1 | c.6931C>T (p.Pro2311Ser) c.6928C>T (p.Pro2310Ser) c.383C>T n.7014C>T | |
19 | g.38499148C>A | CA405667206 | RYR1 | c.6932C>A (p.Pro2311His) c.6929C>A (p.Pro2310His) c.384C>A n.7015C>A | |
19 | g.38499148C= | CA2335052604 | RYR1 | c.6932C= (p.Pro2311=) c.6929C= (p.Pro2310=) c.384C= n.7015C= | |
19 | g.38499148C>G | CA405667208 | RYR1 | c.6932C>G (p.Pro2311Arg) c.6929C>G (p.Pro2310Arg) c.384C>G n.7015C>G | ClinVar |
19 | g.38499148C>T | CA068933 | RYR1 | c.6932C>T (p.Pro2311Leu) c.6929C>T (p.Pro2310Leu) c.384C>T n.7015C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499149C>A | CA507243154 | RYR1 | c.6933C>A (p.Pro2311=) c.6930C>A (p.Pro2310=) c.385C>A n.7016C>A | |
19 | g.38499149C= | CA2335052605 | RYR1 | c.6933C= (p.Pro2311=) c.6930C= (p.Pro2310=) c.385C= n.7016C= | |
19 | g.38499149C>G | CA507243153 | RYR1 | c.6933C>G (p.Pro2311=) c.6930C>G (p.Pro2310=) c.385C>G n.7016C>G | |
19 | g.38499149C>T | CA507243152 | RYR1 | c.6933C>T (p.Pro2311=) c.6930C>T (p.Pro2310=) c.385C>T n.7016C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499150A>C | CA405667210 | RYR1 | c.6934A>C (p.Met2312Leu) c.6931A>C (p.Met2311Leu) c.386A>C n.7017A>C | |
19 | g.38499150A>G | CA405667211 | RYR1 | c.6934A>G (p.Met2312Val) c.6931A>G (p.Met2311Val) c.386A>G n.7017A>G | |
19 | g.38499150A>T | CA405667212 | RYR1 | c.6934A>T (p.Met2312Leu) c.6931A>T (p.Met2311Leu) c.386A>T n.7017A>T | |
19 | g.38499151T>A | CA405667214 | RYR1 | c.6935T>A (p.Met2312Lys) c.6932T>A (p.Met2311Lys) c.387T>A n.7018T>A | |
19 | g.38499151T>C | CA405667215 | RYR1 | c.6935T>C (p.Met2312Thr) c.6932T>C (p.Met2311Thr) c.387T>C n.7018T>C | |
19 | g.38499151T>G | CA405667217 | RYR1 | c.6935T>G (p.Met2312Arg) c.6932T>G (p.Met2311Arg) c.387T>G n.7018T>G | |
19 | g.38499153_38499156del | CA2576771049 | RYR1 | c.6937_6940del (p.Leu2313TrpfsTer?) c.6934_6937del (p.Leu2312TrpfsTer?) c.389_392del n.7020_7023del | |
19 | g.38499152G>A | CA405667221 | RYR1 | c.6936G>A (p.Met2312Ile) c.6933G>A (p.Met2311Ile) c.388G>A n.7019G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499152G>C | CA405667220 | RYR1 | c.6936G>C (p.Met2312Ile) c.6933G>C (p.Met2311Ile) c.388G>C n.7019G>C | |
19 | g.38499152G= | CA2335052606 | RYR1 | c.6936G= (p.Met2312=) c.6933G= (p.Met2311=) c.388G= n.7019G= | |
19 | g.38499152G>T | CA405667218 | RYR1 | c.6936G>T (p.Met2312Ile) c.6933G>T (p.Met2311Ile) c.388G>T n.7019G>T | |
19 | g.38499153C>A | CA405667223 | RYR1 | c.6937C>A (p.Leu2313Ile) c.6934C>A (p.Leu2312Ile) c.389C>A n.7020C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499153C= | CA2335052607 | RYR1 | c.6937C= (p.Leu2313=) c.6934C= (p.Leu2312=) c.389C= n.7020C= | |
19 | g.38499153C>G | CA082249 | RYR1 | c.6937C>G (p.Leu2313Val) c.6934C>G (p.Leu2312Val) c.389C>G n.7020C>G | |
19 | g.38499153C>T | CA082250 | RYR1 | c.6937C>T (p.Leu2313Phe) c.6934C>T (p.Leu2312Phe) c.389C>T n.7020C>T | |
19 | g.38499154T>A | CA405667224 | RYR1 | c.6938T>A (p.Leu2313His) c.6935T>A (p.Leu2312His) c.390T>A n.7021T>A | |
19 | g.38499154T>C | CA405667225 | RYR1 | c.6938T>C (p.Leu2313Pro) c.6935T>C (p.Leu2312Pro) c.390T>C n.7021T>C | |
19 | g.38499154T>G | CA405667226 | RYR1 | c.6938T>G (p.Leu2313Arg) c.6935T>G (p.Leu2312Arg) c.390T>G n.7021T>G | ClinVar |
19 | g.38499155T>A | CA507243160 | RYR1 | c.6939T>A (p.Leu2313=) c.6936T>A (p.Leu2312=) c.391T>A n.7022T>A | |
19 | g.38499155T>C | CA507243162 | RYR1 | c.6939T>C (p.Leu2313=) c.6936T>C (p.Leu2312=) c.391T>C n.7022T>C | ClinVar gnomAD v4 |
19 | g.38499155T>G | CA507243163 | RYR1 | c.6939T>G (p.Leu2313=) c.6936T>G (p.Leu2312=) c.391T>G n.7022T>G | |
19 | g.38499156G>A | CA405667228 | RYR1 | c.6940G>A (p.Val2314Met) c.6937G>A (p.Val2313Met) c.392G>A n.7023G>A | gnomAD v4 |
19 | g.38499156G>C | CA405667229 | RYR1 | c.6940G>C (p.Val2314Leu) c.6937G>C (p.Val2313Leu) c.392G>C n.7023G>C | |
19 | g.38499156G>T | CA405667230 | RYR1 | c.6940G>T (p.Val2314Leu) c.6937G>T (p.Val2313Leu) c.392G>T n.7023G>T | |
19 | g.38499157T>A | CA405667232 | RYR1 | c.6941T>A (p.Val2314Glu) c.6938T>A (p.Val2313Glu) c.393T>A n.7024T>A | |
19 | g.38499157T>C | CA405667234 | RYR1 | c.6941T>C (p.Val2314Ala) c.6938T>C (p.Val2313Ala) c.393T>C n.7024T>C | |
19 | g.38499157T>G | CA405667236 | RYR1 | c.6941T>G (p.Val2314Gly) c.6938T>G (p.Val2313Gly) c.393T>G n.7024T>G | |
19 | g.38499158G>A | CA507243164 | RYR1 | c.6942G>A (p.Val2314=) c.6939G>A (p.Val2313=) c.394G>A n.7025G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38499158G>C | CA507243166 | RYR1 | c.6942G>C (p.Val2314=) c.6939G>C (p.Val2313=) c.394G>C n.7025G>C | |
19 | g.38499158G= | CA2335052608 | RYR1 | c.6942G= (p.Val2314=) c.6939G= (p.Val2313=) c.394G= n.7025G= | |
19 | g.38499158G>T | CA507243167 | RYR1 | c.6942G>T (p.Val2314=) c.6939G>T (p.Val2313=) c.394G>T n.7025G>T | |
19 | g.38499159G>A | CA082255 | RYR1 | c.6943G>A (p.Ala2315Thr) c.6940G>A (p.Ala2314Thr) c.395G>A n.7026G>A | COSMIC |
19 | g.38499159G>C | CA405667237 | RYR1 | c.6943G>C (p.Ala2315Pro) c.6940G>C (p.Ala2314Pro) c.395G>C n.7026G>C | |
19 | g.38499159G>T | CA405667239 | RYR1 | c.6943G>T (p.Ala2315Ser) c.6940G>T (p.Ala2314Ser) c.395G>T n.7026G>T | |
19 | g.38499160C>A | CA405667244 | RYR1 | c.6944C>A (p.Ala2315Asp) c.6941C>A (p.Ala2314Asp) c.396C>A n.7027C>A | |
19 | g.38499160C= | CA2335052609 | RYR1 | c.6944C= (p.Ala2315=) c.6941C= (p.Ala2314=) c.396C= n.7027C= | |
19 | g.38499160C>G | CA405667241 | RYR1 | c.6944C>G (p.Ala2315Gly) c.6941C>G (p.Ala2314Gly) c.396C>G n.7027C>G | |
19 | g.38499160C>T | CA405667242 | RYR1 | c.6944C>T (p.Ala2315Val) c.6941C>T (p.Ala2314Val) c.396C>T n.7027C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38499161C>A | CA507243168 | RYR1 | c.6945C>A (p.Ala2315=) c.6942C>A (p.Ala2314=) c.397C>A n.7028C>A | |
19 | g.38499161C>G | CA507243169 | RYR1 | c.6945C>G (p.Ala2315=) c.6942C>G (p.Ala2314=) c.397C>G n.7028C>G | |
19 | g.38499161C>T | CA507243170 | RYR1 | c.6945C>T (p.Ala2315=) c.6942C>T (p.Ala2314=) c.397C>T n.7028C>T | |
19 | g.38499162A= | CA2335052610 | RYR1 | c.6946A= (p.Lys2316=) c.6943A= (p.Lys2315=) c.398A= n.7029A= | |
19 | g.38499162A>C | CA405667246 | RYR1 | c.6946A>C (p.Lys2316Gln) c.6943A>C (p.Lys2315Gln) c.398A>C n.7029A>C | |
19 | g.38499162A>G | CA082256 | RYR1 | c.6946A>G (p.Lys2316Glu) c.6943A>G (p.Lys2315Glu) c.398A>G n.7029A>G | dbSNP |
19 | g.38499162A>T | CA405667248 | RYR1 | c.6946A>T (p.Lys2316Ter) c.6943A>T (p.Lys2315Ter) c.398A>T n.7029A>T | |
19 | g.38499164dup | CA2584899833 | RYR1 | c.6948dup (p.Gly2317ArgfsTer?) c.6945dup (p.Gly2316ArgfsTer?) c.400dup n.7031dup | ClinVar gnomAD v4 |
19 | g.38499163A>C | CA405667249 | RYR1 | c.6947A>C (p.Lys2316Thr) c.6944A>C (p.Lys2315Thr) c.399A>C n.7030A>C | |
19 | g.38499163A>G | CA405667250 | RYR1 | c.6947A>G (p.Lys2316Arg) c.6944A>G (p.Lys2315Arg) c.399A>G n.7030A>G | ClinVar |
19 | g.38499163A>T | CA405667251 | RYR1 | c.6947A>T (p.Lys2316Ile) c.6944A>T (p.Lys2315Ile) c.399A>T n.7030A>T | |
19 | g.38499164A>C | CA405667253 | RYR1 | c.6948A>C (p.Lys2316Asn) c.6945A>C (p.Lys2315Asn) c.400A>C n.7031A>C | |
19 | g.38499164A>G | CA507243172 | RYR1 | c.6948A>G (p.Lys2316=) c.6945A>G (p.Lys2315=) c.400A>G n.7031A>G | |
19 | g.38499164A>T | CA405667255 | RYR1 | c.6948A>T (p.Lys2316Asn) c.6945A>T (p.Lys2315Asn) c.400A>T n.7031A>T | |
19 | g.38499165G>A | CA405667256 | RYR1 | c.6949G>A (p.Gly2317Arg) c.6946G>A (p.Gly2316Arg) c.401G>A n.7032G>A | |
19 | g.38499165G>C | CA405667258 | RYR1 | c.6949G>C (p.Gly2317Arg) c.6946G>C (p.Gly2316Arg) c.401G>C n.7032G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499165G= | CA2335052611 | RYR1 | c.6949G= (p.Gly2317=) c.6946G= (p.Gly2316=) c.401G= n.7032G= | |
19 | g.38499165G>T | CA405667259 | RYR1 | c.6949G>T (p.Gly2317Trp) c.6946G>T (p.Gly2316Trp) c.401G>T n.7032G>T | |
19 | g.38499166G>A | CA068937 | RYR1 | c.6950G>A (p.Gly2317Glu) c.6947G>A (p.Gly2316Glu) c.402G>A n.7033G>A | dbSNP ExAC gnomAD v2 |
19 | g.38499166G>C | CA405667263 | RYR1 | c.6950G>C (p.Gly2317Ala) c.6947G>C (p.Gly2316Ala) c.402G>C n.7033G>C | |
19 | g.38499166G= | CA2335052612 | RYR1 | c.6950G= (p.Gly2317=) c.6947G= (p.Gly2316=) c.402G= n.7033G= | |
19 | g.38499166G>T | CA405667261 | RYR1 | c.6950G>T (p.Gly2317Val) c.6947G>T (p.Gly2316Val) c.402G>T n.7033G>T | |
19 | g.38499166_38499168dup | CA2584899834 | RYR1 | c.6950_6952dup (p.Gly2317_Tyr2318insTrp) c.6947_6949dup (p.Gly2316_Tyr2317insTrp) c.402_404dup n.7033_7035dup | gnomAD v4 |
19 | g.38499167G>A | CA507243174 | RYR1 | c.6951G>A (p.Gly2317=) c.6948G>A (p.Gly2316=) c.403G>A n.7034G>A | ClinVar gnomAD v4 |
19 | g.38499167G>C | CA507243175 | RYR1 | c.6951G>C (p.Gly2317=) c.6948G>C (p.Gly2316=) c.403G>C n.7034G>C | |
19 | g.38499167G>T | CA507243173 | RYR1 | c.6951G>T (p.Gly2317=) c.6948G>T (p.Gly2316=) c.403G>T n.7034G>T | ClinVar |
19 | g.38499168T>A | CA405667265 | RYR1 | c.6952T>A (p.Tyr2318Asn) c.6949T>A (p.Tyr2317Asn) c.404T>A n.7035T>A | |
19 | g.38499168T>C | CA405667266 | RYR1 | c.6952T>C (p.Tyr2318His) c.6949T>C (p.Tyr2317His) c.404T>C n.7035T>C | ClinVar gnomAD v4 |
19 | g.38499168T>G | CA405667268 | RYR1 | c.6952T>G (p.Tyr2318Asp) c.6949T>G (p.Tyr2317Asp) c.404T>G n.7035T>G | |
19 | g.38499169A>C | CA405667270 | RYR1 | c.6953A>C (p.Tyr2318Ser) c.6950A>C (p.Tyr2317Ser) c.405A>C n.7036A>C | |
19 | g.38499169A>G | CA405667271 | RYR1 | c.6953A>G (p.Tyr2318Cys) c.6950A>G (p.Tyr2317Cys) c.405A>G n.7036A>G | |
19 | g.38499169A>T | CA405667272 | RYR1 | c.6953A>T (p.Tyr2318Phe) c.6950A>T (p.Tyr2317Phe) c.405A>T n.7036A>T | |
19 | g.38499170C>A | CA405667276 | RYR1 | c.6954C>A (p.Tyr2318Ter) c.6951C>A (p.Tyr2317Ter) c.406C>A n.7037C>A | |
19 | g.38499170C= | CA2335052613 | RYR1 | c.6954C= (p.Tyr2318=) c.6951C= (p.Tyr2317=) c.406C= n.7037C= | |
19 | g.38499170C>G | CA405667274 | RYR1 | c.6954C>G (p.Tyr2318Ter) c.6951C>G (p.Tyr2317Ter) c.406C>G n.7037C>G | |
19 | g.38499170C>T | CA507243177 | RYR1 | c.6954C>T (p.Tyr2318=) c.6951C>T (p.Tyr2317=) c.406C>T n.7037C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499171C>A | CA405667278 | RYR1 | c.6955C>A (p.Pro2319Thr) c.6952C>A (p.Pro2318Thr) c.407C>A n.7038C>A | |
19 | g.38499171C= | CA2335052614 | RYR1 | c.6955C= (p.Pro2319=) c.6952C= (p.Pro2318=) c.407C= n.7038C= | |
19 | g.38499171C>G | CA405667279 | RYR1 | c.6955C>G (p.Pro2319Ala) c.6952C>G (p.Pro2318Ala) c.407C>G n.7038C>G | |
19 | g.38499171C>T | CA405667281 | RYR1 | c.6955C>T (p.Pro2319Ser) c.6952C>T (p.Pro2318Ser) c.407C>T n.7038C>T | dbSNP gnomAD v4 COSMIC |
19 | g.38499172C>A | CA405667283 | RYR1 | c.6956C>A (p.Pro2319Gln) c.6953C>A (p.Pro2318Gln) c.408C>A n.7039C>A | |
19 | g.38499172C>G | CA405667284 | RYR1 | c.6956C>G (p.Pro2319Arg) c.6953C>G (p.Pro2318Arg) c.408C>G n.7039C>G | |
19 | g.38499172C>T | CA405667286 | RYR1 | c.6956C>T (p.Pro2319Leu) c.6953C>T (p.Pro2318Leu) c.408C>T n.7039C>T | |
19 | g.38499173A>C | CA507243178 | RYR1 | c.6957A>C (p.Pro2319=) c.6954A>C (p.Pro2318=) c.409A>C n.7040A>C | gnomAD v4 |
19 | g.38499173A>G | CA507243180 | RYR1 | c.6957A>G (p.Pro2319=) c.6954A>G (p.Pro2318=) c.409A>G n.7040A>G | |
19 | g.38499173A>T | CA507243179 | RYR1 | c.6957A>T (p.Pro2319=) c.6954A>T (p.Pro2318=) c.409A>T n.7040A>T | |
19 | g.38499174G>A | CA405667288 | RYR1 | c.6958G>A (p.Asp2320Asn) c.6955G>A (p.Asp2319Asn) c.410G>A n.7041G>A | |
19 | g.38499174G>C | CA405667290 | RYR1 | c.6958G>C (p.Asp2320His) c.6955G>C (p.Asp2319His) c.410G>C n.7041G>C | |
19 | g.38499174G>T | CA405667289 | RYR1 | c.6958G>T (p.Asp2320Tyr) c.6955G>T (p.Asp2319Tyr) c.410G>T n.7041G>T | |
19 | g.38499175A= | CA2335052615 | RYR1 | c.6959A= (p.Asp2320=) c.6956A= (p.Asp2319=) c.411A= n.7042A= | |
19 | g.38499175A>C | CA405667292 | RYR1 | c.6959A>C (p.Asp2320Ala) c.6956A>C (p.Asp2319Ala) c.411A>C n.7042A>C | |
19 | g.38499175A>G | CA068941 | RYR1 | c.6959A>G (p.Asp2320Gly) c.6956A>G (p.Asp2319Gly) c.411A>G n.7042A>G | dbSNP ExAC gnomAD v2 |
19 | g.38499175A>T | CA405667295 | RYR1 | c.6959A>T (p.Asp2320Val) c.6956A>T (p.Asp2319Val) c.411A>T n.7042A>T | |
19 | g.38499176C>A | CA405667296 | RYR1 | c.6960C>A (p.Asp2320Glu) c.6957C>A (p.Asp2319Glu) c.412C>A n.7043C>A | |
19 | g.38499176C= | CA2335052616 | RYR1 | c.6960C= (p.Asp2320=) c.6957C= (p.Asp2319=) c.412C= n.7043C= | |
19 | g.38499176C>G | CA405667297 | RYR1 | c.6960C>G (p.Asp2320Glu) c.6957C>G (p.Asp2319Glu) c.412C>G n.7043C>G | |
19 | g.38499176C>T | CA507243181 | RYR1 | c.6960C>T (p.Asp2320=) c.6957C>T (p.Asp2319=) c.412C>T n.7043C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499177A= | CA2335052617 | RYR1 | c.6961A= (p.Ile2321=) c.6958A= (p.Ile2320=) c.413A= n.7044A= | |
19 | g.38499177A>C | CA405667299 | RYR1 | c.6961A>C (p.Ile2321Leu) c.6958A>C (p.Ile2320Leu) c.413A>C n.7044A>C | |
19 | g.38499177A>G | CA024659 | RYR1 | c.6961A>G (p.Ile2321Val) c.6958A>G (p.Ile2320Val) c.413A>G n.7044A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499177A>T | CA405667302 | RYR1 | c.6961A>T (p.Ile2321Phe) c.6958A>T (p.Ile2320Phe) c.413A>T n.7044A>T | ClinVar dbSNP |
19 | g.38499178T>A | CA405667303 | RYR1 | c.6962T>A (p.Ile2321Asn) c.6959T>A (p.Ile2320Asn) c.414T>A n.7045T>A | gnomAD v4 |
19 | g.38499178T>C | CA068944 | RYR1 | c.6962T>C (p.Ile2321Thr) c.6959T>C (p.Ile2320Thr) c.414T>C n.7045T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499178T>G | CA405667305 | RYR1 | c.6962T>G (p.Ile2321Ser) c.6959T>G (p.Ile2320Ser) c.414T>G n.7045T>G | |
19 | g.38499178T= | CA2335052618 | RYR1 | c.6962T= (p.Ile2321=) c.6959T= (p.Ile2320=) c.414T= n.7045T= | |
19 | g.38499179T>A | CA507243185 | RYR1 | c.6963T>A (p.Ile2321=) c.6960T>A (p.Ile2320=) c.415T>A n.7046T>A | |
19 | g.38499179T>C | CA507243187 | RYR1 | c.6963T>C (p.Ile2321=) c.6960T>C (p.Ile2320=) c.415T>C n.7046T>C | |
19 | g.38499179T>G | CA405667306 | RYR1 | c.6963T>G (p.Ile2321Met) c.6960T>G (p.Ile2320Met) c.415T>G n.7046T>G | |
19 | g.38499180G>A | CA405667308 | RYR1 | c.6964G>A (p.Gly2322Ser) c.6961G>A (p.Gly2321Ser) c.416G>A n.7047G>A | gnomAD v4 |
19 | g.38499180G>C | CA405667309 | RYR1 | c.6964G>C (p.Gly2322Arg) c.6961G>C (p.Gly2321Arg) c.416G>C n.7047G>C | |
19 | g.38499180G>T | CA405667307 | RYR1 | c.6964G>T (p.Gly2322Cys) c.6961G>T (p.Gly2321Cys) c.416G>T n.7047G>T | |
19 | g.38499181G>A | CA405667311 | RYR1 | c.6965G>A (p.Gly2322Asp) c.6962G>A (p.Gly2321Asp) c.417G>A n.7048G>A | |
19 | g.38499181G>C | CA405667310 | RYR1 | c.6965G>C (p.Gly2322Ala) c.6962G>C (p.Gly2321Ala) c.417G>C n.7048G>C | |
19 | g.38499181G>T | CA405667313 | RYR1 | c.6965G>T (p.Gly2322Val) c.6962G>T (p.Gly2321Val) c.417G>T n.7048G>T | |
19 | g.38499182C>A | CA507243189 | RYR1 | c.6966C>A (p.Gly2322=) c.6963C>A (p.Gly2321=) c.418C>A n.7049C>A | |
19 | g.38499182C>G | CA507243190 | RYR1 | c.6966C>G (p.Gly2322=) c.6963C>G (p.Gly2321=) c.418C>G n.7049C>G | |
19 | g.38499182C>T | CA507243192 | RYR1 | c.6966C>T (p.Gly2322=) c.6963C>T (p.Gly2321=) c.418C>T n.7049C>T | |
19 | g.38499183T>A | CA405667314 | RYR1 | c.6967T>A (p.Trp2323Arg) c.6964T>A (p.Trp2322Arg) c.419T>A n.7050T>A | |
19 | g.38499183T>C | CA405667318 | RYR1 | c.6967T>C (p.Trp2323Arg) c.6964T>C (p.Trp2322Arg) c.419T>C n.7050T>C | |
19 | g.38499183T>G | CA405667316 | RYR1 | c.6967T>G (p.Trp2323Gly) c.6964T>G (p.Trp2322Gly) c.419T>G n.7050T>G | |
19 | g.38499183T= | CA2335052619 | RYR1 | c.6967T= (p.Trp2323=) c.6964T= (p.Trp2322=) c.419T= n.7050T= | |
19 | g.38499184G>A | CA405667320 | RYR1 | c.6968G>A (p.Trp2323Ter) c.6965G>A (p.Trp2322Ter) c.420G>A n.7051G>A | |
19 | g.38499184G>C | CA405667321 | RYR1 | c.6968G>C (p.Trp2323Ser) c.6965G>C (p.Trp2322Ser) c.420G>C n.7051G>C | dbSNP |
19 | g.38499184G= | CA2335052620 | RYR1 | c.6968G= (p.Trp2323=) c.6965G= (p.Trp2322=) c.420G= n.7051G= | |
19 | g.38499184G>T | CA405667322 | RYR1 | c.6968G>T (p.Trp2323Leu) c.6965G>T (p.Trp2322Leu) c.420G>T n.7051G>T | |
19 | g.38499185dup | CA308107300 | RYR1 | c.6969dup (p.Asn2324GlufsTer?) c.6966dup (p.Asn2323GlufsTer?) c.421dup n.7052dup | dbSNP |
19 | g.38499185G>A | CA405667323 | RYR1 | c.6969G>A (p.Trp2323Ter) c.6966G>A (p.Trp2322Ter) c.421G>A n.7052G>A | |
19 | g.38499185G>C | CA405667325 | RYR1 | c.6969G>C (p.Trp2323Cys) c.6966G>C (p.Trp2322Cys) c.421G>C n.7052G>C | |
19 | g.38499185G>T | CA405667326 | RYR1 | c.6969G>T (p.Trp2323Cys) c.6966G>T (p.Trp2322Cys) c.421G>T n.7052G>T | |
19 | g.38499186A= | CA2335052621 | RYR1 | c.6970A= (p.Asn2324=) c.6967A= (p.Asn2323=) c.422A= n.7053A= | |
19 | g.38499186A>C | CA405667328 | RYR1 | c.6970A>C (p.Asn2324His) c.6967A>C (p.Asn2323His) c.422A>C n.7053A>C | |
19 | g.38499186A>G | CA068948 | RYR1 | c.6970A>G (p.Asn2324Asp) c.6967A>G (p.Asn2323Asp) c.422A>G n.7053A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499186A>T | CA405667330 | RYR1 | c.6970A>T (p.Asn2324Tyr) c.6967A>T (p.Asn2323Tyr) c.422A>T n.7053A>T | |
19 | g.38499187A= | CA2335052622 | RYR1 | c.6971A= (p.Asn2324=) c.6968A= (p.Asn2323=) c.423A= n.7054A= | |
19 | g.38499187A>C | CA405667334 | RYR1 | c.6971A>C (p.Asn2324Thr) c.6968A>C (p.Asn2323Thr) c.423A>C n.7054A>C | |
19 | g.38499187A>G | CA068953 | RYR1 | c.6971A>G (p.Asn2324Ser) c.6968A>G (p.Asn2323Ser) c.423A>G n.7054A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499187A>T | CA405667332 | RYR1 | c.6971A>T (p.Asn2324Ile) c.6968A>T (p.Asn2323Ile) c.423A>T n.7054A>T | |
19 | g.38499188C>A | CA405667336 | RYR1 | c.6972C>A (p.Asn2324Lys) c.6969C>A (p.Asn2323Lys) c.424C>A n.7055C>A | ClinVar |
19 | g.38499188C= | CA2335052623 | RYR1 | c.6972C= (p.Asn2324=) c.6969C= (p.Asn2323=) c.424C= n.7055C= | |
19 | g.38499188C>G | CA405667338 | RYR1 | c.6972C>G (p.Asn2324Lys) c.6969C>G (p.Asn2323Lys) c.424C>G n.7055C>G | |
19 | g.38499188C>T | CA308107306 | RYR1 | c.6972C>T (p.Asn2324=) c.6969C>T (p.Asn2323=) c.424C>T n.7055C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499191dup | CA2843262400 | RYR1 | c.6975dup (p.Cys2326LeufsTer?) c.6972dup (p.Cys2325LeufsTer?) c.427dup n.7058dup | |
19 | g.38499189C>A | CA405667339 | RYR1 | c.6973C>A (p.Pro2325Thr) c.6970C>A (p.Pro2324Thr) c.425C>A n.7056C>A | |
19 | g.38499189C>G | CA405667340 | RYR1 | c.6973C>G (p.Pro2325Ala) c.6970C>G (p.Pro2324Ala) c.425C>G n.7056C>G | |
19 | g.38499189C>T | CA405667342 | RYR1 | c.6973C>T (p.Pro2325Ser) c.6970C>T (p.Pro2324Ser) c.425C>T n.7056C>T | |
19 | g.38499190C>A | CA405667344 | RYR1 | c.6974C>A (p.Pro2325His) c.6971C>A (p.Pro2324His) c.426C>A n.7057C>A | |
19 | g.38499190C>G | CA405667346 | RYR1 | c.6974C>G (p.Pro2325Arg) c.6971C>G (p.Pro2324Arg) c.426C>G n.7057C>G | |
19 | g.38499190C>T | CA405667347 | RYR1 | c.6974C>T (p.Pro2325Leu) c.6971C>T (p.Pro2324Leu) c.426C>T n.7057C>T | |
19 | g.38499191C>A | CA507243194 | RYR1 | c.6975C>A (p.Pro2325=) c.6972C>A (p.Pro2324=) c.427C>A n.7058C>A | |
19 | g.38499191C>G | CA507243196 | RYR1 | c.6975C>G (p.Pro2325=) c.6972C>G (p.Pro2324=) c.427C>G n.7058C>G | |
19 | g.38499191C>T | CA507243199 | RYR1 | c.6975C>T (p.Pro2325=) c.6972C>T (p.Pro2324=) c.427C>T n.7058C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38499192T>A | CA405667348 | RYR1 | c.6976T>A (p.Cys2326Ser) c.6973T>A (p.Cys2325Ser) c.428T>A n.7059T>A | |
19 | g.38499192T>C | CA405667350 | RYR1 | c.6976T>C (p.Cys2326Arg) c.6973T>C (p.Cys2325Arg) c.428T>C n.7059T>C | |
19 | g.38499192T>G | CA405667352 | RYR1 | c.6976T>G (p.Cys2326Gly) c.6973T>G (p.Cys2325Gly) c.428T>G n.7059T>G | |
19 | g.38499193G>A | CA405667355 | RYR1 | c.6977G>A (p.Cys2326Tyr) c.6974G>A (p.Cys2325Tyr) c.429G>A n.7060G>A | |
19 | g.38499193G>C | CA405667356 | RYR1 | c.6977G>C (p.Cys2326Ser) c.6974G>C (p.Cys2325Ser) c.429G>C n.7060G>C | dbSNP gnomAD v4 |
19 | g.38499193G>T | CA405667354 | RYR1 | c.6977G>T (p.Cys2326Phe) c.6974G>T (p.Cys2325Phe) c.429G>T n.7060G>T | |
19 | g.38499194T>A | CA405667358 | RYR1 | c.6978T>A (p.Cys2326Ter) c.6975T>A (p.Cys2325Ter) c.430T>A n.7061T>A | |
19 | g.38499194T>C | CA507243203 | RYR1 | c.6978T>C (p.Cys2326=) c.6975T>C (p.Cys2325=) c.430T>C n.7061T>C | dbSNP |
19 | g.38499194T>G | CA405667360 | RYR1 | c.6978T>G (p.Cys2326Trp) c.6975T>G (p.Cys2325Trp) c.430T>G n.7061T>G | |
19 | g.38499194T= | CA2335052624 | RYR1 | c.6978T= (p.Cys2326=) c.6975T= (p.Cys2325=) c.430T= n.7061T= | |
19 | g.38499195G>A | CA405667361 | RYR1 | c.6979G>A (p.Gly2327Ser) c.6976G>A (p.Gly2326Ser) c.431G>A n.7062G>A | |
19 | g.38499195G>C | CA405667363 | RYR1 | c.6979G>C (p.Gly2327Arg) c.6976G>C (p.Gly2326Arg) c.431G>C n.7062G>C | |
19 | g.38499195G>T | CA405667364 | RYR1 | c.6979G>T (p.Gly2327Cys) c.6976G>T (p.Gly2326Cys) c.431G>T n.7062G>T | |
19 | g.38499196G>A | CA405667365 | RYR1 | c.6980G>A (p.Gly2327Asp) c.6977G>A (p.Gly2326Asp) c.432G>A n.7063G>A | |
19 | g.38499196G>C | CA405667366 | RYR1 | c.6980G>C (p.Gly2327Ala) c.6977G>C (p.Gly2326Ala) c.432G>C n.7063G>C | |
19 | g.38499196G>T | CA405667367 | RYR1 | c.6980G>T (p.Gly2327Val) c.6977G>T (p.Gly2326Val) c.432G>T n.7063G>T | |
19 | g.38499197T>A | CA507243205 | RYR1 | c.6981T>A (p.Gly2327=) c.6978T>A (p.Gly2326=) c.433T>A n.7064T>A | |
19 | g.38499197T>C | CA507243207 | RYR1 | c.6981T>C (p.Gly2327=) c.6978T>C (p.Gly2326=) c.433T>C n.7064T>C | |
19 | g.38499197T>G | CA507243209 | RYR1 | c.6981T>G (p.Gly2327=) c.6978T>G (p.Gly2326=) c.433T>G n.7064T>G | |
19 | g.38499198G>A | CA405667368 | RYR1 | c.6982G>A (p.Gly2328Arg) c.6979G>A (p.Gly2327Arg) c.434G>A n.7065G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38499198G>C | CA405667370 | RYR1 | c.6982G>C (p.Gly2328Arg) c.6979G>C (p.Gly2327Arg) c.434G>C n.7065G>C | |
19 | g.38499198G= | CA2335052625 | RYR1 | c.6982G= (p.Gly2328=) c.6979G= (p.Gly2327=) c.434G= n.7065G= | |
19 | g.38499198G>T | CA405667372 | RYR1 | c.6982G>T (p.Gly2328Ter) c.6979G>T (p.Gly2327Ter) c.434G>T n.7065G>T | |
19 | g.38499199G>A | CA405667375 | RYR1 | c.6983G>A (p.Gly2328Glu) c.6980G>A (p.Gly2327Glu) c.435G>A n.7066G>A | |
19 | g.38499199G>C | CA405667377 | RYR1 | c.6983G>C (p.Gly2328Ala) c.6980G>C (p.Gly2327Ala) c.435G>C n.7066G>C | |
19 | g.38499199G>T | CA405667374 | RYR1 | c.6983G>T (p.Gly2328Val) c.6980G>T (p.Gly2327Val) c.435G>T n.7066G>T | |
19 | g.38499200A>C | CA507243215 | RYR1 | c.6984A>C (p.Gly2328=) c.6981A>C (p.Gly2327=) c.436A>C n.7067A>C | |
19 | g.38499200A>G | CA507243213 | RYR1 | c.6984A>G (p.Gly2328=) c.6981A>G (p.Gly2327=) c.436A>G n.7067A>G | |
19 | g.38499200A>T | CA507243214 | RYR1 | c.6984A>T (p.Gly2328=) c.6981A>T (p.Gly2327=) c.436A>T n.7067A>T | |
19 | g.38499201G>A | CA405667379 | RYR1 | c.6985G>A (p.Glu2329Lys) c.6982G>A (p.Glu2328Lys) c.437G>A n.7068G>A | COSMIC |
19 | g.38499201G>C | CA405667380 | RYR1 | c.6985G>C (p.Glu2329Gln) c.6982G>C (p.Glu2328Gln) c.437G>C n.7068G>C | ClinVar |
19 | g.38499201G>T | CA405667382 | RYR1 | c.6985G>T (p.Glu2329Ter) c.6982G>T (p.Glu2328Ter) c.437G>T n.7068G>T | |
19 | g.38499202A>C | CA405667383 | RYR1 | c.6986A>C (p.Glu2329Ala) c.6983A>C (p.Glu2328Ala) c.438A>C n.7069A>C | gnomAD v4 COSMIC |
19 | g.38499202A>G | CA405667385 | RYR1 | c.6986A>G (p.Glu2329Gly) c.6983A>G (p.Glu2328Gly) c.438A>G n.7069A>G | |
19 | g.38499202A>T | CA405667388 | RYR1 | c.6986A>T (p.Glu2329Val) c.6983A>T (p.Glu2328Val) c.438A>T n.7069A>T | |
19 | g.38499203G>A | CA507243219 | RYR1 | c.6987G>A (p.Glu2329=) c.6984G>A (p.Glu2328=) c.439G>A n.7070G>A | ClinVar |
19 | g.38499203G>C | CA405667390 | RYR1 | c.6987G>C (p.Glu2329Asp) c.6984G>C (p.Glu2328Asp) c.439G>C n.7070G>C | |
19 | g.38499203G= | CA2335052626 | RYR1 | c.6987G= (p.Glu2329=) c.6984G= (p.Glu2328=) c.439G= n.7070G= | |
19 | g.38499203G>T | CA068957 | RYR1 | c.6987G>T (p.Glu2329Asp) c.6984G>T (p.Glu2328Asp) c.439G>T n.7070G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499204C>A | CA405667392 | RYR1 | c.6988C>A (p.Arg2330Ser) c.6985C>A (p.Arg2329Ser) c.440C>A n.7071C>A | |
19 | g.38499204C= | CA2335052627 | RYR1 | c.6988C= (p.Arg2330=) c.6985C= (p.Arg2329=) c.440C= n.7071C= | |
19 | g.38499204C>G | CA405667394 | RYR1 | c.6988C>G (p.Arg2330Gly) c.6985C>G (p.Arg2329Gly) c.440C>G n.7071C>G | |
19 | g.38499204C>T | CA068962 | RYR1 | c.6988C>T (p.Arg2330Cys) c.6985C>T (p.Arg2329Cys) c.440C>T n.7071C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499205G>A | CA068966 | RYR1 | c.6989G>A (p.Arg2330His) c.6986G>A (p.Arg2329His) c.441G>A n.7072G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499205G>C | CA405667395 | RYR1 | c.6989G>C (p.Arg2330Pro) c.6986G>C (p.Arg2329Pro) c.441G>C n.7072G>C | |
19 | g.38499205G= | CA2335052628 | RYR1 | c.6989G= (p.Arg2330=) c.6986G= (p.Arg2329=) c.441G= n.7072G= | |
19 | g.38499205G>T | CA405667398 | RYR1 | c.6989G>T (p.Arg2330Leu) c.6986G>T (p.Arg2329Leu) c.441G>T n.7072G>T | |
19 | g.38499206C>A | CA507243222 | RYR1 | c.6990C>A (p.Arg2330=) c.6987C>A (p.Arg2329=) c.442C>A n.7073C>A | |
19 | g.38499206C>G | CA507243224 | RYR1 | c.6990C>G (p.Arg2330=) c.6987C>G (p.Arg2329=) c.442C>G n.7073C>G | |
19 | g.38499206C>T | CA507243225 | RYR1 | c.6990C>T (p.Arg2330=) c.6987C>T (p.Arg2329=) c.442C>T n.7073C>T | |
19 | g.38499207T>A | CA405667402 | RYR1 | c.6991T>A (p.Tyr2331Asn) c.6988T>A (p.Tyr2330Asn) c.443T>A n.7074T>A | |
19 | g.38499207T>C | CA405667404 | RYR1 | c.6991T>C (p.Tyr2331His) c.6988T>C (p.Tyr2330His) c.443T>C n.7074T>C | |
19 | g.38499207T>G | CA405667401 | RYR1 | c.6991T>G (p.Tyr2331Asp) c.6988T>G (p.Tyr2330Asp) c.443T>G n.7074T>G | |
19 | g.38499208A>C | CA405667410 | RYR1 | c.6992A>C (p.Tyr2331Ser) c.6989A>C (p.Tyr2330Ser) c.444A>C n.7075A>C | |
19 | g.38499208A>G | CA405667405 | RYR1 | c.6992A>G (p.Tyr2331Cys) c.6989A>G (p.Tyr2330Cys) c.444A>G n.7075A>G | |
19 | g.38499208A>T | CA405667408 | RYR1 | c.6992A>T (p.Tyr2331Phe) c.6989A>T (p.Tyr2330Phe) c.444A>T n.7075A>T | |
19 | g.38499209C>A | CA405667411 | RYR1 | c.6993C>A (p.Tyr2331Ter) c.6990C>A (p.Tyr2330Ter) c.445C>A n.7076C>A | |
19 | g.38499209C>G | CA405667412 | RYR1 | c.6993C>G (p.Tyr2331Ter) c.6990C>G (p.Tyr2330Ter) c.445C>G n.7076C>G | |
19 | g.38499209C>T | CA507243227 | RYR1 | c.6993C>T (p.Tyr2331=) c.6990C>T (p.Tyr2330=) c.445C>T n.7076C>T | ClinVar |
19 | g.38499210C>A | CA405667414 | RYR1 | c.6994C>A (p.Leu2332Met) c.6991C>A (p.Leu2331Met) c.446C>A n.7077C>A | |
19 | g.38499210C= | CA2335052629 | RYR1 | c.6994C= (p.Leu2332=) c.6991C= (p.Leu2331=) c.446C= n.7077C= | |
19 | g.38499210C>G | CA308107315 | RYR1 | c.6994C>G (p.Leu2332Val) c.6991C>G (p.Leu2331Val) c.446C>G n.7077C>G | dbSNP |
19 | g.38499210C>T | CA507243228 | RYR1 | c.6994C>T (p.Leu2332=) c.6991C>T (p.Leu2331=) c.446C>T n.7077C>T | |
19 | g.38499211T>A | CA405667417 | RYR1 | c.6995T>A (p.Leu2332Gln) c.6992T>A (p.Leu2331Gln) c.447T>A n.7078T>A | |
19 | g.38499211T>C | CA405667418 | RYR1 | c.6995T>C (p.Leu2332Pro) c.6992T>C (p.Leu2331Pro) c.447T>C n.7078T>C | |
19 | g.38499211T>G | CA405667419 | RYR1 | c.6995T>G (p.Leu2332Arg) c.6992T>G (p.Leu2331Arg) c.447T>G n.7078T>G | ClinVar |
19 | g.38499212G>A | CA507243229 | RYR1 | c.6996G>A (p.Leu2332=) c.6993G>A (p.Leu2331=) c.448G>A n.7079G>A | |
19 | g.38499212G>C | CA507243231 | RYR1 | c.6996G>C (p.Leu2332=) c.6993G>C (p.Leu2331=) c.448G>C n.7079G>C | |
19 | g.38499212G>T | CA507243232 | RYR1 | c.6996G>T (p.Leu2332=) c.6993G>T (p.Leu2331=) c.448G>T n.7079G>T | |
19 | g.38499213G>A | CA405667420 | RYR1 | c.6997G>A (p.Asp2333Asn) c.6994G>A (p.Asp2332Asn) c.449G>A n.7080G>A | |
19 | g.38499213G>C | CA405667421 | RYR1 | c.6997G>C (p.Asp2333His) c.6994G>C (p.Asp2332His) c.449G>C n.7080G>C | |
19 | g.38499213G>T | CA405667423 | RYR1 | c.6997G>T (p.Asp2333Tyr) c.6994G>T (p.Asp2332Tyr) c.449G>T n.7080G>T | |
19 | g.38499214A>C | CA405667427 | RYR1 | c.6998A>C (p.Asp2333Ala) c.6995A>C (p.Asp2332Ala) c.450A>C n.7081A>C | |
19 | g.38499214A>G | CA405667424 | RYR1 | c.6998A>G (p.Asp2333Gly) c.6995A>G (p.Asp2332Gly) c.450A>G n.7081A>G | |
19 | g.38499214A>T | CA405667426 | RYR1 | c.6998A>T (p.Asp2333Val) c.6995A>T (p.Asp2332Val) c.450A>T n.7081A>T | |
19 | g.38499215C>A | CA405667428 | RYR1 | c.6999C>A (p.Asp2333Glu) c.6996C>A (p.Asp2332Glu) c.451C>A n.7082C>A | |
19 | g.38499215C>G | CA405667429 | RYR1 | c.6999C>G (p.Asp2333Glu) c.6996C>G (p.Asp2332Glu) c.451C>G n.7082C>G | |
19 | g.38499215C>T | CA507243236 | RYR1 | c.6999C>T (p.Asp2333=) c.6996C>T (p.Asp2332=) c.451C>T n.7082C>T | |
19 | g.38499216T>A | CA405667431 | RYR1 | c.7000T>A (p.Phe2334Ile) c.6997T>A (p.Phe2333Ile) c.452T>A n.7083T>A | |
19 | g.38499216T>C | CA405667433 | RYR1 | c.7000T>C (p.Phe2334Leu) c.6997T>C (p.Phe2333Leu) c.452T>C n.7083T>C | |
19 | g.38499216T>G | CA405667434 | RYR1 | c.7000T>G (p.Phe2334Val) c.6997T>G (p.Phe2333Val) c.452T>G n.7083T>G | |
19 | g.38499217T>A | CA405667436 | RYR1 | c.7001T>A (p.Phe2334Tyr) c.6998T>A (p.Phe2333Tyr) c.453T>A n.7084T>A | COSMIC |
19 | g.38499217T>C | CA405667438 | RYR1 | c.7001T>C (p.Phe2334Ser) c.6998T>C (p.Phe2333Ser) c.453T>C n.7084T>C | |
19 | g.38499217T>G | CA405667440 | RYR1 | c.7001T>G (p.Phe2334Cys) c.6998T>G (p.Phe2333Cys) c.453T>G n.7084T>G | |
19 | g.38499217_38499218delinsTC | CA2335052630 | RYR1 | c.7001_7002delinsTC (p.Phe2334=) c.6998_6999delinsTC (p.Phe2333=) c.453_454delinsTC n.7084_7085delinsTC | |
19 | g.38499218C>A | CA405667441 | RYR1 | c.7002C>A (p.Phe2334Leu) c.6999C>A (p.Phe2333Leu) c.454C>A n.7085C>A | |
19 | g.38499218C= | CA2335052631 | RYR1 | c.7002C= (p.Phe2334=) c.6999C= (p.Phe2333=) c.454C= n.7085C= | |
19 | g.38499218C>G | CA405667442 | RYR1 | c.7002C>G (p.Phe2334Leu) c.6999C>G (p.Phe2333Leu) c.454C>G n.7085C>G | |
19 | g.38499218C>T | CA507243239 | RYR1 | c.7002C>T (p.Phe2334=) c.6999C>T (p.Phe2333=) c.454C>T n.7085C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38499219del | CA920105699 | RYR1 | c.7003del (p.Leu2335CysfsTer?) c.7000del (p.Leu2334CysfsTer?) c.455del n.7086del | dbSNP |
19 | g.38499219C>A | CA405667443 | RYR1 | c.7003C>A (p.Leu2335Met) c.7000C>A (p.Leu2334Met) c.455C>A n.7086C>A | |
19 | g.38499219C>G | CA405667444 | RYR1 | c.7003C>G (p.Leu2335Val) c.7000C>G (p.Leu2334Val) c.455C>G n.7086C>G | |
19 | g.38499219C>T | CA507243240 | RYR1 | c.7003C>T (p.Leu2335=) c.7000C>T (p.Leu2334=) c.455C>T n.7086C>T | gnomAD v4 |
19 | g.38499220T>A | CA405667446 | RYR1 | c.7004T>A (p.Leu2335Gln) c.7001T>A (p.Leu2334Gln) c.456T>A n.7087T>A | |
19 | g.38499220T>C | CA405667448 | RYR1 | c.7004T>C (p.Leu2335Pro) c.7001T>C (p.Leu2334Pro) c.456T>C n.7087T>C | |
19 | g.38499220T>G | CA405667445 | RYR1 | c.7004T>G (p.Leu2335Arg) c.7001T>G (p.Leu2334Arg) c.456T>G n.7087T>G | |
19 | g.38499221G>A | CA507243241 | RYR1 | c.7005G>A (p.Leu2335=) c.7002G>A (p.Leu2334=) c.457G>A n.7088G>A | |
19 | g.38499221G>C | CA507243243 | RYR1 | c.7005G>C (p.Leu2335=) c.7002G>C (p.Leu2334=) c.457G>C n.7088G>C | |
19 | g.38499221G>T | CA507243242 | RYR1 | c.7005G>T (p.Leu2335=) c.7002G>T (p.Leu2334=) c.457G>T n.7088G>T | |
19 | g.38499222C>A | CA405667449 | RYR1 | c.7006C>A (p.Arg2336Ser) c.7003C>A (p.Arg2335Ser) c.458C>A n.7089C>A | |
19 | g.38499222C= | CA2335052632 | RYR1 | c.7006C= (p.Arg2336=) c.7003C= (p.Arg2335=) c.458C= n.7089C= | |
19 | g.38499222C>G | CA405667451 | RYR1 | c.7006C>G (p.Arg2336Gly) c.7003C>G (p.Arg2335Gly) c.458C>G n.7089C>G | ClinVar |
19 | g.38499222C>T | CA405667453 | RYR1 | c.7006C>T (p.Arg2336Cys) c.7003C>T (p.Arg2335Cys) c.458C>T n.7089C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.38499223G>A | CA024662 | RYR1 | c.7007G>A (p.Arg2336His) c.7004G>A (p.Arg2335His) c.459G>A n.7090G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499223G>C | CA405667454 | RYR1 | c.7007G>C (p.Arg2336Pro) c.7004G>C (p.Arg2335Pro) c.459G>C n.7090G>C | |
19 | g.38499223G= | CA2335052633 | RYR1 | c.7007G= (p.Arg2336=) c.7004G= (p.Arg2335=) c.459G= n.7090G= | |
19 | g.38499223G>T | CA405667456 | RYR1 | c.7007G>T (p.Arg2336Leu) c.7004G>T (p.Arg2335Leu) c.459G>T n.7090G>T | ClinVar |
19 | g.38499224C>A | CA507243244 | RYR1 | c.7008C>A (p.Arg2336=) c.7005C>A (p.Arg2335=) c.460C>A n.7091C>A | |
19 | g.38499224C>G | CA507243245 | RYR1 | c.7008C>G (p.Arg2336=) c.7005C>G (p.Arg2335=) c.460C>G n.7091C>G | |
19 | g.38499224C>T | CA507243246 | RYR1 | c.7008C>T (p.Arg2336=) c.7005C>T (p.Arg2335=) c.460C>T n.7091C>T | gnomAD v4 COSMIC |
19 | g.38499225T>A | CA405667461 | RYR1 | c.7009T>A (p.Phe2337Ile) c.7006T>A (p.Phe2336Ile) c.461T>A n.7092T>A | |
19 | g.38499225T>C | CA405667458 | RYR1 | c.7009T>C (p.Phe2337Leu) c.7006T>C (p.Phe2336Leu) c.461T>C n.7092T>C | |
19 | g.38499225T>G | CA405667459 | RYR1 | c.7009T>G (p.Phe2337Val) c.7006T>G (p.Phe2336Val) c.461T>G n.7092T>G | |
19 | g.38499226T>A | CA405667462 | RYR1 | c.7010T>A (p.Phe2337Tyr) c.7007T>A (p.Phe2336Tyr) c.462T>A n.7093T>A | |
19 | g.38499226T>C | CA405667463 | RYR1 | c.7010T>C (p.Phe2337Ser) c.7007T>C (p.Phe2336Ser) c.462T>C n.7093T>C | |
19 | g.38499226T>G | CA405667465 | RYR1 | c.7010T>G (p.Phe2337Cys) c.7007T>G (p.Phe2336Cys) c.462T>G n.7093T>G | |
19 | g.38499227T>A | CA405667467 | RYR1 | c.7011T>A (p.Phe2337Leu) c.7008T>A (p.Phe2336Leu) c.463T>A n.7094T>A | |
19 | g.38499227T>C | CA507243249 | RYR1 | c.7011T>C (p.Phe2337=) c.7008T>C (p.Phe2336=) c.463T>C n.7094T>C | gnomAD v4 |
19 | g.38499227T>G | CA405667469 | RYR1 | c.7011T>G (p.Phe2337Leu) c.7008T>G (p.Phe2336Leu) c.463T>G n.7094T>G | |
19 | g.38499228G>A | CA405667470 | RYR1 | c.7012G>A (p.Ala2338Thr) c.7009G>A (p.Ala2337Thr) c.464G>A n.7095G>A | gnomAD v4 |
19 | g.38499228G>C | CA405667474 | RYR1 | c.7012G>C (p.Ala2338Pro) c.7009G>C (p.Ala2337Pro) c.464G>C n.7095G>C | |
19 | g.38499228G>T | CA405667472 | RYR1 | c.7012G>T (p.Ala2338Ser) c.7009G>T (p.Ala2337Ser) c.464G>T n.7095G>T | |
19 | g.38499229C>A | CA405667475 | RYR1 | c.7013C>A (p.Ala2338Asp) c.7010C>A (p.Ala2337Asp) c.465C>A n.7096C>A | COSMIC |
19 | g.38499229C>G | CA405667476 | RYR1 | c.7013C>G (p.Ala2338Gly) c.7010C>G (p.Ala2337Gly) c.465C>G n.7096C>G | |
19 | g.38499229C>T | CA405667478 | RYR1 | c.7013C>T (p.Ala2338Val) c.7010C>T (p.Ala2337Val) c.465C>T n.7096C>T | ClinVar dbSNP |
19 | g.38499230T>A | CA507243253 | RYR1 | c.7014T>A (p.Ala2338=) c.7011T>A (p.Ala2337=) c.466T>A n.7097T>A | |
19 | g.38499230T>C | CA507243254 | RYR1 | c.7014T>C (p.Ala2338=) c.7011T>C (p.Ala2337=) c.466T>C n.7097T>C | |
19 | g.38499230T>G | CA507243256 | RYR1 | c.7014T>G (p.Ala2338=) c.7011T>G (p.Ala2337=) c.466T>G n.7097T>G | |
19 | g.38499231G>A | CA405667479 | RYR1 | c.7015G>A (p.Val2339Ile) c.7012G>A (p.Val2338Ile) c.467G>A n.7098G>A | gnomAD v4 |
19 | g.38499231G>C | CA405667480 | RYR1 | c.7015G>C (p.Val2339Leu) c.7012G>C (p.Val2338Leu) c.467G>C n.7098G>C | |
19 | g.38499231G= | CA2335052634 | RYR1 | c.7015G= (p.Val2339=) c.7012G= (p.Val2338=) c.467G= n.7098G= | |
19 | g.38499231G>T | CA405667482 | RYR1 | c.7015G>T (p.Val2339Phe) c.7012G>T (p.Val2338Phe) c.467G>T n.7098G>T | ClinVar dbSNP |
19 | g.38499232T>A | CA405667484 | RYR1 | c.7016T>A (p.Val2339Asp) c.7013T>A (p.Val2338Asp) c.468T>A n.7099T>A | |
19 | g.38499232T>C | CA405667486 | RYR1 | c.7016T>C (p.Val2339Ala) c.7013T>C (p.Val2338Ala) c.468T>C n.7099T>C | |
19 | g.38499232T>G | CA405667487 | RYR1 | c.7016T>G (p.Val2339Gly) c.7013T>G (p.Val2338Gly) c.468T>G n.7099T>G | |
19 | g.38499233C>A | CA507243260 | RYR1 | c.7017C>A (p.Val2339=) c.7014C>A (p.Val2338=) c.469C>A n.7100C>A | dbSNP |
19 | g.38499233C>G | CA507243262 | RYR1 | c.7017C>G (p.Val2339=) c.7014C>G (p.Val2338=) c.469C>G n.7100C>G | |
19 | g.38499233C>T | CA507243261 | RYR1 | c.7017C>T (p.Val2339=) c.7014C>T (p.Val2338=) c.469C>T n.7100C>T | ClinVar gnomAD v4 COSMIC |
19 | g.38499234T>A | CA405667489 | RYR1 | c.7018T>A (p.Phe2340Ile) c.7015T>A (p.Phe2339Ile) c.470T>A n.7101T>A | ClinVar dbSNP |
19 | g.38499234T>C | CA405667490 | RYR1 | c.7018T>C (p.Phe2340Leu) c.7015T>C (p.Phe2339Leu) c.470T>C n.7101T>C | ClinVar dbSNP |
19 | g.38499234T>G | CA405667491 | RYR1 | c.7018T>G (p.Phe2340Val) c.7015T>G (p.Phe2339Val) c.470T>G n.7101T>G | |
19 | g.38499234T= | CA2335052635 | RYR1 | c.7018T= (p.Phe2340=) c.7015T= (p.Phe2339=) c.470T= n.7101T= | |
19 | g.38499235T>A | CA405667497 | RYR1 | c.7019T>A (p.Phe2340Tyr) c.7016T>A (p.Phe2339Tyr) c.471T>A n.7102T>A | |
19 | g.38499235T>C | CA405667495 | RYR1 | c.7019T>C (p.Phe2340Ser) c.7016T>C (p.Phe2339Ser) c.471T>C n.7102T>C | |
19 | g.38499235T>G | CA405667493 | RYR1 | c.7019T>G (p.Phe2340Cys) c.7016T>G (p.Phe2339Cys) c.471T>G n.7102T>G | |
19 | g.38499236C>A | CA405667498 | RYR1 | c.7020C>A (p.Phe2340Leu) c.7017C>A (p.Phe2339Leu) c.472C>A n.7103C>A | |
19 | g.38499236C= | CA2335052636 | RYR1 | c.7020C= (p.Phe2340=) c.7017C= (p.Phe2339=) c.472C= n.7103C= | |
19 | g.38499236C>G | CA308107330 | RYR1 | c.7020C>G (p.Phe2340Leu) c.7017C>G (p.Phe2339Leu) c.472C>G n.7103C>G | dbSNP |
19 | g.38499236C>T | CA068967 | RYR1 | c.7020C>T (p.Phe2340=) c.7017C>T (p.Phe2339=) c.472C>T n.7103C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38499237G>A | CA068972 | RYR1 | c.7021G>A (p.Val2341Ile) c.7018G>A (p.Val2340Ile) c.473G>A n.7104G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38499237G>C | CA405667503 | RYR1 | c.7021G>C (p.Val2341Leu) c.7018G>C (p.Val2340Leu) c.473G>C n.7104G>C | |
19 | g.38499237G= | CA2335052637 | RYR1 | c.7021G= (p.Val2341=) c.7018G= (p.Val2340=) c.473G= n.7104G= | |
19 | g.38499237G>T | CA405667502 | RYR1 | c.7021G>T (p.Val2341Phe) c.7018G>T (p.Val2340Phe) c.473G>T n.7104G>T | gnomAD v4 |
19 | g.38499238T>A | CA405667504 | RYR1 | c.7022T>A (p.Val2341Asp) c.7019T>A (p.Val2340Asp) c.474T>A n.7105T>A | |
19 | g.38499238T>C | CA405667505 | RYR1 | c.7022T>C (p.Val2341Ala) c.7019T>C (p.Val2340Ala) c.474T>C n.7105T>C | |
19 | g.38499238T>G | CA405667507 | RYR1 | c.7022T>G (p.Val2341Gly) c.7019T>G (p.Val2340Gly) c.474T>G n.7105T>G |