| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38543381C>A | CA405661204 | RYR1 | c.134C>A c.116C>A c.11724C>A (p.Asn3908Lys) c.11709C>A (p.Asn3903Lys) c.11706C>A (p.Asn3902Lys) c.333C>A c.5093C>A c.11691C>A (p.Asn3897Lys) c.11721C>A (p.Asn3907Lys) | |
| 19 | g.38543381C= | CA2335074314 | RYR1 | c.134C= c.116C= c.11724C= (p.Asn3908=) c.11709C= (p.Asn3903=) c.11706C= (p.Asn3902=) c.333C= c.5093C= c.11691C= (p.Asn3897=) c.11721C= (p.Asn3907=) | |
| 19 | g.38543381C>G | CA405661206 | RYR1 | c.134C>G c.116C>G c.11724C>G (p.Asn3908Lys) c.11709C>G (p.Asn3903Lys) c.11706C>G (p.Asn3902Lys) c.333C>G c.5093C>G c.11691C>G (p.Asn3897Lys) c.11721C>G (p.Asn3907Lys) | |
| 19 | g.38543381C>T | CA308091985 | RYR1 | c.134C>T c.116C>T c.11724C>T (p.Asn3908=) c.11709C>T (p.Asn3903=) c.11706C>T (p.Asn3902=) c.333C>T c.5093C>T c.11691C>T (p.Asn3897=) c.11721C>T (p.Asn3907=) | dbSNP gnomAD v4 |
| 19 | g.38543382A>C | CA405661207 | RYR1 | c.135A>C c.117A>C c.11725A>C (p.Thr3909Pro) c.11710A>C (p.Thr3904Pro) c.11707A>C (p.Thr3903Pro) c.334A>C c.5094A>C c.11692A>C (p.Thr3898Pro) c.11722A>C (p.Thr3908Pro) | gnomAD v4 |
| 19 | g.38543382A>G | CA405661208 | RYR1 | c.135A>G c.117A>G c.11725A>G (p.Thr3909Ala) c.11710A>G (p.Thr3904Ala) c.11707A>G (p.Thr3903Ala) c.334A>G c.5094A>G c.11692A>G (p.Thr3898Ala) c.11722A>G (p.Thr3908Ala) | |
| 19 | g.38543382A>T | CA405661210 | RYR1 | c.135A>T c.117A>T c.11725A>T (p.Thr3909Ser) c.11710A>T (p.Thr3904Ser) c.11707A>T (p.Thr3903Ser) c.334A>T c.5094A>T c.11692A>T (p.Thr3898Ser) c.11722A>T (p.Thr3908Ser) | |
| 19 | g.38543383C>A | CA405661214 | RYR1 | c.136C>A c.118C>A c.11726C>A (p.Thr3909Lys) c.11711C>A (p.Thr3904Lys) c.11708C>A (p.Thr3903Lys) c.335C>A c.5095C>A c.11693C>A (p.Thr3898Lys) c.11723C>A (p.Thr3908Lys) | COSMIC |
| 19 | g.38543383C= | CA2335074315 | RYR1 | c.136C= c.118C= c.11726C= (p.Thr3909=) c.11711C= (p.Thr3904=) c.11708C= (p.Thr3903=) c.335C= c.5095C= c.11693C= (p.Thr3898=) c.11723C= (p.Thr3908=) | |
| 19 | g.38543383C>G | CA405661212 | RYR1 | c.136C>G c.118C>G c.11726C>G (p.Thr3909Arg) c.11711C>G (p.Thr3904Arg) c.11708C>G (p.Thr3903Arg) c.335C>G c.5095C>G c.11693C>G (p.Thr3898Arg) c.11723C>G (p.Thr3908Arg) | gnomAD v4 |
| 19 | g.38543383C>T | CA057550 | RYR1 | c.136C>T c.118C>T c.11726C>T (p.Thr3909Met) c.11711C>T (p.Thr3904Met) c.11708C>T (p.Thr3903Met) c.335C>T c.5095C>T c.11693C>T (p.Thr3898Met) c.11723C>T (p.Thr3908Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38543384G>A | CA057557 | RYR1 | c.137G>A c.119G>A c.11727G>A (p.Thr3909=) c.11712G>A (p.Thr3904=) c.11709G>A (p.Thr3903=) c.336G>A c.5096G>A c.11694G>A (p.Thr3898=) c.11724G>A (p.Thr3908=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38543384G>C | CA507354623 | RYR1 | c.137G>C c.119G>C c.11727G>C (p.Thr3909=) c.11712G>C (p.Thr3904=) c.11709G>C (p.Thr3903=) c.336G>C c.5096G>C c.11694G>C (p.Thr3898=) c.11724G>C (p.Thr3908=) | |
| 19 | g.38543384G= | CA2335074316 | RYR1 | c.137G= c.119G= c.11727G= (p.Thr3909=) c.11712G= (p.Thr3904=) c.11709G= (p.Thr3903=) c.336G= c.5096G= c.11694G= (p.Thr3898=) c.11724G= (p.Thr3908=) | |
| 19 | g.38543384G>T | CA080391 | RYR1 | c.137G>T c.119G>T c.11727G>T (p.Thr3909=) c.11712G>T (p.Thr3904=) c.11709G>T (p.Thr3903=) c.336G>T c.5096G>T c.11694G>T (p.Thr3898=) c.11724G>T (p.Thr3908=) | gnomAD v4 |
| 19 | g.38543385A>C | CA080392 | RYR1 | c.138A>C c.120A>C c.11728A>C (p.Thr3910Pro) c.11713A>C (p.Thr3905Pro) c.11710A>C (p.Thr3904Pro) c.337A>C c.5097A>C c.11695A>C (p.Thr3899Pro) c.11725A>C (p.Thr3909Pro) | |
| 19 | g.38543385A>G | CA405661218 | RYR1 | c.138A>G c.120A>G c.11728A>G (p.Thr3910Ala) c.11713A>G (p.Thr3905Ala) c.11710A>G (p.Thr3904Ala) c.337A>G c.5097A>G c.11695A>G (p.Thr3899Ala) c.11725A>G (p.Thr3909Ala) | |
| 19 | g.38543385A>T | CA405661220 | RYR1 | c.138A>T c.120A>T c.11728A>T (p.Thr3910Ser) c.11713A>T (p.Thr3905Ser) c.11710A>T (p.Thr3904Ser) c.337A>T c.5097A>T c.11695A>T (p.Thr3899Ser) c.11725A>T (p.Thr3909Ser) | |
| 19 | g.38543386C>A | CA405661222 | RYR1 | c.139C>A c.121C>A c.11729C>A (p.Thr3910Asn) c.11714C>A (p.Thr3905Asn) c.11711C>A (p.Thr3904Asn) c.338C>A c.5098C>A c.11696C>A (p.Thr3899Asn) c.11726C>A (p.Thr3909Asn) | |
| 19 | g.38543386C>G | CA405661224 | RYR1 | c.139C>G c.121C>G c.11729C>G (p.Thr3910Ser) c.11714C>G (p.Thr3905Ser) c.11711C>G (p.Thr3904Ser) c.338C>G c.5098C>G c.11696C>G (p.Thr3899Ser) c.11726C>G (p.Thr3909Ser) | |
| 19 | g.38543386C>T | CA080414 | RYR1 | c.139C>T c.121C>T c.11729C>T (p.Thr3910Ile) c.11714C>T (p.Thr3905Ile) c.11711C>T (p.Thr3904Ile) c.338C>T c.5098C>T c.11696C>T (p.Thr3899Ile) c.11726C>T (p.Thr3909Ile) | |
| 19 | g.38543387C>A | CA507354629 | RYR1 | c.140C>A c.122C>A c.11730C>A (p.Thr3910=) c.11715C>A (p.Thr3905=) c.11712C>A (p.Thr3904=) c.339C>A c.5099C>A c.11697C>A (p.Thr3899=) c.11727C>A (p.Thr3909=) | |
| 19 | g.38543387C= | CA2335074317 | RYR1 | c.140C= c.122C= c.11730C= (p.Thr3910=) c.11715C= (p.Thr3905=) c.11712C= (p.Thr3904=) c.339C= c.5099C= c.11697C= (p.Thr3899=) c.11727C= (p.Thr3909=) | |
| 19 | g.38543387C>G | CA507354628 | RYR1 | c.140C>G c.122C>G c.11730C>G (p.Thr3910=) c.11715C>G (p.Thr3905=) c.11712C>G (p.Thr3904=) c.339C>G c.5099C>G c.11697C>G (p.Thr3899=) c.11727C>G (p.Thr3909=) | ClinVar |
| 19 | g.38543387C>T | CA507354627 | RYR1 | c.140C>T c.122C>T c.11730C>T (p.Thr3910=) c.11715C>T (p.Thr3905=) c.11712C>T (p.Thr3904=) c.339C>T c.5099C>T c.11697C>T (p.Thr3899=) c.11727C>T (p.Thr3909=) | dbSNP |
| 19 | g.38543388A= | CA2335074318 | RYR1 | c.141A= c.123A= c.11731A= (p.Thr3911=) c.11716A= (p.Thr3906=) c.11713A= (p.Thr3905=) c.340A= c.5100A= c.11698A= (p.Thr3900=) c.11728A= (p.Thr3910=) | |
| 19 | g.38543388A>C | CA405661226 | RYR1 | c.141A>C c.123A>C c.11731A>C (p.Thr3911Pro) c.11716A>C (p.Thr3906Pro) c.11713A>C (p.Thr3905Pro) c.340A>C c.5100A>C c.11698A>C (p.Thr3900Pro) c.11728A>C (p.Thr3910Pro) | gnomAD v4 |
| 19 | g.38543388A>G | CA057560 | RYR1 | c.141A>G c.123A>G c.11731A>G (p.Thr3911Ala) c.11716A>G (p.Thr3906Ala) c.11713A>G (p.Thr3905Ala) c.340A>G c.5100A>G c.11698A>G (p.Thr3900Ala) c.11728A>G (p.Thr3910Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543388A>T | CA405661228 | RYR1 | c.141A>T c.123A>T c.11731A>T (p.Thr3911Ser) c.11716A>T (p.Thr3906Ser) c.11713A>T (p.Thr3905Ser) c.340A>T c.5100A>T c.11698A>T (p.Thr3900Ser) c.11728A>T (p.Thr3910Ser) | |
| 19 | g.38543389C>A | CA405661231 | RYR1 | c.142C>A c.124C>A c.11732C>A (p.Thr3911Asn) c.11717C>A (p.Thr3906Asn) c.11714C>A (p.Thr3905Asn) c.341C>A c.5101C>A c.11699C>A (p.Thr3900Asn) c.11729C>A (p.Thr3910Asn) | |
| 19 | g.38543389C>G | CA405661233 | RYR1 | c.142C>G c.124C>G c.11732C>G (p.Thr3911Ser) c.11717C>G (p.Thr3906Ser) c.11714C>G (p.Thr3905Ser) c.341C>G c.5101C>G c.11699C>G (p.Thr3900Ser) c.11729C>G (p.Thr3910Ser) | |
| 19 | g.38543389C>T | CA405661235 | RYR1 | c.142C>T c.124C>T c.11732C>T (p.Thr3911Ile) c.11717C>T (p.Thr3906Ile) c.11714C>T (p.Thr3905Ile) c.341C>T c.5101C>T c.11699C>T (p.Thr3900Ile) c.11729C>T (p.Thr3910Ile) | COSMIC |
| 19 | g.38543390T>A | CA507354630 | RYR1 | c.143T>A c.125T>A c.11733T>A (p.Thr3911=) c.11718T>A (p.Thr3906=) c.11715T>A (p.Thr3905=) c.342T>A c.5102T>A c.11700T>A (p.Thr3900=) c.11730T>A (p.Thr3910=) | |
| 19 | g.38543390T>C | CA507354632 | RYR1 | c.143T>C c.125T>C c.11733T>C (p.Thr3911=) c.11718T>C (p.Thr3906=) c.11715T>C (p.Thr3905=) c.342T>C c.5102T>C c.11700T>C (p.Thr3900=) c.11730T>C (p.Thr3910=) | |
| 19 | g.38543390T>G | CA507354633 | RYR1 | c.143T>G c.125T>G c.11733T>G (p.Thr3911=) c.11718T>G (p.Thr3906=) c.11715T>G (p.Thr3905=) c.342T>G c.5102T>G c.11700T>G (p.Thr3900=) c.11730T>G (p.Thr3910=) | gnomAD v4 |
| 19 | g.38543391A= | CA2335074320 | RYR1 | c.144A= c.126A= c.11734A= (p.Ile3912=) c.11719A= (p.Ile3907=) c.11716A= (p.Ile3906=) c.343A= c.5103A= c.11701A= (p.Ile3901=) c.11731A= (p.Ile3911=) | |
| 19 | g.38543391A>C | CA405661239 | RYR1 | c.144A>C c.126A>C c.11734A>C (p.Ile3912Leu) c.11719A>C (p.Ile3907Leu) c.11716A>C (p.Ile3906Leu) c.343A>C c.5103A>C c.11701A>C (p.Ile3901Leu) c.11731A>C (p.Ile3911Leu) | |
| 19 | g.38543391A>G | CA080416 | RYR1 | c.144A>G c.126A>G c.11734A>G (p.Ile3912Val) c.11719A>G (p.Ile3907Val) c.11716A>G (p.Ile3906Val) c.343A>G c.5103A>G c.11701A>G (p.Ile3901Val) c.11731A>G (p.Ile3911Val) | dbSNP gnomAD v4 |
| 19 | g.38543391A>T | CA405661237 | RYR1 | c.144A>T c.126A>T c.11734A>T (p.Ile3912Phe) c.11719A>T (p.Ile3907Phe) c.11716A>T (p.Ile3906Phe) c.343A>T c.5103A>T c.11701A>T (p.Ile3901Phe) c.11731A>T (p.Ile3911Phe) | |
| 19 | g.38543391_38543392delinsAT | CA2335074319 | RYR1 | c.144_145delinsAT c.126_127delinsAT c.11734_11735delinsAT (p.Ile3912=) c.11719_11720delinsAT (p.Ile3907=) c.11716_11717delinsAT (p.Ile3906=) c.343_344delinsAT c.5103_5104delinsAT c.11701_11702delinsAT (p.Ile3901=) c.11731_11732delinsAT (p.Ile3911=) | |
| 19 | g.38543392T>A | CA10652420 | RYR1 | c.145T>A c.127T>A c.11735T>A (p.Ile3912Asn) c.11720T>A (p.Ile3907Asn) c.11717T>A (p.Ile3906Asn) c.344T>A c.5104T>A c.11702T>A (p.Ile3901Asn) c.11732T>A (p.Ile3911Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38543392T>C | CA405661242 | RYR1 | c.145T>C c.127T>C c.11735T>C (p.Ile3912Thr) c.11720T>C (p.Ile3907Thr) c.11717T>C (p.Ile3906Thr) c.344T>C c.5104T>C c.11702T>C (p.Ile3901Thr) c.11732T>C (p.Ile3911Thr) | |
| 19 | g.38543392T>G | CA405661244 | RYR1 | c.145T>G c.127T>G c.11735T>G (p.Ile3912Ser) c.11720T>G (p.Ile3907Ser) c.11717T>G (p.Ile3906Ser) c.344T>G c.5104T>G c.11702T>G (p.Ile3901Ser) c.11732T>G (p.Ile3911Ser) | |
| 19 | g.38543392T= | CA2335074321 | RYR1 | c.145T= c.127T= c.11735T= (p.Ile3912=) c.11720T= (p.Ile3907=) c.11717T= (p.Ile3906=) c.344T= c.5104T= c.11702T= (p.Ile3901=) c.11732T= (p.Ile3911=) | |
| 19 | g.38543393del | CA633066749 | RYR1 | c.146del c.128del c.11736del (p.Asn3913ThrfsTer?) c.11721del (p.Asn3908ThrfsTer?) c.11718del (p.Asn3907ThrfsTer?) c.345del c.5105del c.11703del (p.Asn3902ThrfsTer?) c.11733del (p.Asn3912ThrfsTer?) | dbSNP gnomAD v2 |
| 19 | g.38543393T>A | CA507354635 | RYR1 | c.146T>A c.128T>A c.11736T>A (p.Ile3912=) c.11721T>A (p.Ile3907=) c.11718T>A (p.Ile3906=) c.345T>A c.5105T>A c.11703T>A (p.Ile3901=) c.11733T>A (p.Ile3911=) | |
| 19 | g.38543393T>C | CA507354636 | RYR1 | c.146T>C c.128T>C c.11736T>C (p.Ile3912=) c.11721T>C (p.Ile3907=) c.11718T>C (p.Ile3906=) c.345T>C c.5105T>C c.11703T>C (p.Ile3901=) c.11733T>C (p.Ile3911=) | |
| 19 | g.38543393T>G | CA405661247 | RYR1 | c.146T>G c.128T>G c.11736T>G (p.Ile3912Met) c.11721T>G (p.Ile3907Met) c.11718T>G (p.Ile3906Met) c.345T>G c.5105T>G c.11703T>G (p.Ile3901Met) c.11733T>G (p.Ile3911Met) | |
| 19 | g.38543394A>C | CA405661249 | RYR1 | c.147A>C c.129A>C c.11737A>C (p.Asn3913His) c.11722A>C (p.Asn3908His) c.11719A>C (p.Asn3907His) c.346A>C c.5106A>C c.11704A>C (p.Asn3902His) c.11734A>C (p.Asn3912His) | |
| 19 | g.38543394A>G | CA405661253 | RYR1 | c.147A>G c.129A>G c.11737A>G (p.Asn3913Asp) c.11722A>G (p.Asn3908Asp) c.11719A>G (p.Asn3907Asp) c.346A>G c.5106A>G c.11704A>G (p.Asn3902Asp) c.11734A>G (p.Asn3912Asp) | |
| 19 | g.38543394A>T | CA405661256 | RYR1 | c.147A>T c.129A>T c.11737A>T (p.Asn3913Tyr) c.11722A>T (p.Asn3908Tyr) c.11719A>T (p.Asn3907Tyr) c.346A>T c.5106A>T c.11704A>T (p.Asn3902Tyr) c.11734A>T (p.Asn3912Tyr) | |
| 19 | g.38543395A>C | CA405661259 | RYR1 | c.148A>C c.130A>C c.11738A>C (p.Asn3913Thr) c.11723A>C (p.Asn3908Thr) c.11720A>C (p.Asn3907Thr) c.347A>C c.5107A>C c.11705A>C (p.Asn3902Thr) c.11735A>C (p.Asn3912Thr) | |
| 19 | g.38543395A>G | CA405661260 | RYR1 | c.148A>G c.130A>G c.11738A>G (p.Asn3913Ser) c.11723A>G (p.Asn3908Ser) c.11720A>G (p.Asn3907Ser) c.347A>G c.5107A>G c.11705A>G (p.Asn3902Ser) c.11735A>G (p.Asn3912Ser) | |
| 19 | g.38543395A>T | CA405661261 | RYR1 | c.148A>T c.130A>T c.11738A>T (p.Asn3913Ile) c.11723A>T (p.Asn3908Ile) c.11720A>T (p.Asn3907Ile) c.347A>T c.5107A>T c.11705A>T (p.Asn3902Ile) c.11735A>T (p.Asn3912Ile) | |
| 19 | g.38543395_38543398delinsACAT | CA2335074322 | RYR1 | c.148_151delinsACAT c.130_133delinsACAT c.11738_11741delinsACAT (p.Asn3913=) c.11723_11726delinsACAT (p.Asn3908=) c.11720_11723delinsACAT (p.Asn3907=) c.347_350delinsACAT c.5107_5110delinsACAT c.11705_11708delinsACAT (p.Asn3902=) c.11735_11738delinsACAT (p.Asn3912=) | |
| 19 | g.38543396C>A | CA405661262 | RYR1 | c.149C>A c.131C>A c.11739C>A (p.Asn3913Lys) c.11724C>A (p.Asn3908Lys) c.11721C>A (p.Asn3907Lys) c.348C>A c.5108C>A c.11706C>A (p.Asn3902Lys) c.11736C>A (p.Asn3912Lys) | |
| 19 | g.38543396C= | CA2335074324 | RYR1 | c.149C= c.131C= c.11739C= (p.Asn3913=) c.11724C= (p.Asn3908=) c.11721C= (p.Asn3907=) c.348C= c.5108C= c.11706C= (p.Asn3902=) c.11736C= (p.Asn3912=) | |
| 19 | g.38543396C>G | CA405661263 | RYR1 | c.149C>G c.131C>G c.11739C>G (p.Asn3913Lys) c.11724C>G (p.Asn3908Lys) c.11721C>G (p.Asn3907Lys) c.348C>G c.5108C>G c.11706C>G (p.Asn3902Lys) c.11736C>G (p.Asn3912Lys) | |
| 19 | g.38543396C>T | CA057572 | RYR1 | c.149C>T c.131C>T c.11739C>T (p.Asn3913=) c.11724C>T (p.Asn3908=) c.11721C>T (p.Asn3907=) c.348C>T c.5108C>T c.11706C>T (p.Asn3902=) c.11736C>T (p.Asn3912=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543402_38543404del | CA2335074323 | RYR1 | c.155_157del c.137_139del c.11745_11747del (p.Ile3916del) c.11730_11732del (p.Ile3911del) c.11727_11729del (p.Ile3910del) c.354_356del c.5114_5116del c.11712_11714del (p.Ile3905del) c.11742_11744del (p.Ile3915del) | dbSNP gnomAD v4 |
| 19 | g.38543397A>C | CA405661264 | RYR1 | c.150A>C c.132A>C c.11740A>C (p.Ile3914Leu) c.11725A>C (p.Ile3909Leu) c.11722A>C (p.Ile3908Leu) c.349A>C c.5109A>C c.11707A>C (p.Ile3903Leu) c.11737A>C (p.Ile3913Leu) | |
| 19 | g.38543397A>G | CA405661265 | RYR1 | c.150A>G c.132A>G c.11740A>G (p.Ile3914Val) c.11725A>G (p.Ile3909Val) c.11722A>G (p.Ile3908Val) c.349A>G c.5109A>G c.11707A>G (p.Ile3903Val) c.11737A>G (p.Ile3913Val) | |
| 19 | g.38543397A>T | CA405661266 | RYR1 | c.150A>T c.132A>T c.11740A>T (p.Ile3914Phe) c.11725A>T (p.Ile3909Phe) c.11722A>T (p.Ile3908Phe) c.349A>T c.5109A>T c.11707A>T (p.Ile3903Phe) c.11737A>T (p.Ile3913Phe) | |
| 19 | g.38543398T>A | CA405661270 | RYR1 | c.151T>A c.133T>A c.11741T>A (p.Ile3914Asn) c.11726T>A (p.Ile3909Asn) c.11723T>A (p.Ile3908Asn) c.350T>A c.5110T>A c.11708T>A (p.Ile3903Asn) c.11738T>A (p.Ile3913Asn) | |
| 19 | g.38543398T>C | CA405661272 | RYR1 | c.151T>C c.133T>C c.11741T>C (p.Ile3914Thr) c.11726T>C (p.Ile3909Thr) c.11723T>C (p.Ile3908Thr) c.350T>C c.5110T>C c.11708T>C (p.Ile3903Thr) c.11738T>C (p.Ile3913Thr) | gnomAD v4 |
| 19 | g.38543398T>G | CA405661269 | RYR1 | c.151T>G c.133T>G c.11741T>G (p.Ile3914Ser) c.11726T>G (p.Ile3909Ser) c.11723T>G (p.Ile3908Ser) c.350T>G c.5110T>G c.11708T>G (p.Ile3903Ser) c.11738T>G (p.Ile3913Ser) | |
| 19 | g.38543399C>A | CA507354640 | RYR1 | c.152C>A c.134C>A c.11742C>A (p.Ile3914=) c.11727C>A (p.Ile3909=) c.11724C>A (p.Ile3908=) c.351C>A c.5111C>A c.11709C>A (p.Ile3903=) c.11739C>A (p.Ile3913=) | |
| 19 | g.38543399C= | CA2335074325 | RYR1 | c.152C= c.134C= c.11742C= (p.Ile3914=) c.11727C= (p.Ile3909=) c.11724C= (p.Ile3908=) c.351C= c.5111C= c.11709C= (p.Ile3903=) c.11739C= (p.Ile3913=) | |
| 19 | g.38543399C>G | CA405661275 | RYR1 | c.152C>G c.134C>G c.11742C>G (p.Ile3914Met) c.11727C>G (p.Ile3909Met) c.11724C>G (p.Ile3908Met) c.351C>G c.5111C>G c.11709C>G (p.Ile3903Met) c.11739C>G (p.Ile3913Met) | ClinVar gnomAD v4 |
| 19 | g.38543399C>T | CA080417 | RYR1 | c.152C>T c.134C>T c.11742C>T (p.Ile3914=) c.11727C>T (p.Ile3909=) c.11724C>T (p.Ile3908=) c.351C>T c.5111C>T c.11709C>T (p.Ile3903=) c.11739C>T (p.Ile3913=) | dbSNP |
| 19 | g.38543400A>C | CA405661278 | RYR1 | c.153A>C c.135A>C c.11743A>C (p.Ile3915Leu) c.11728A>C (p.Ile3910Leu) c.11725A>C (p.Ile3909Leu) c.352A>C c.5112A>C c.11710A>C (p.Ile3904Leu) c.11740A>C (p.Ile3914Leu) | |
| 19 | g.38543400A>G | CA405661280 | RYR1 | c.153A>G c.135A>G c.11743A>G (p.Ile3915Val) c.11728A>G (p.Ile3910Val) c.11725A>G (p.Ile3909Val) c.352A>G c.5112A>G c.11710A>G (p.Ile3904Val) c.11740A>G (p.Ile3914Val) | |
| 19 | g.38543400A>T | CA405661282 | RYR1 | c.153A>T c.135A>T c.11743A>T (p.Ile3915Phe) c.11728A>T (p.Ile3910Phe) c.11725A>T (p.Ile3909Phe) c.352A>T c.5112A>T c.11710A>T (p.Ile3904Phe) c.11740A>T (p.Ile3914Phe) | |
| 19 | g.38543400_38543401delinsAT | CA2335074326 | RYR1 | c.153_154delinsAT c.135_136delinsAT c.11743_11744delinsAT (p.Ile3915=) c.11728_11729delinsAT (p.Ile3910=) c.11725_11726delinsAT (p.Ile3909=) c.352_353delinsAT c.5112_5113delinsAT c.11710_11711delinsAT (p.Ile3904=) c.11740_11741delinsAT (p.Ile3914=) | |
| 19 | g.38543401del | CA633066750 | RYR1 | c.154del c.136del c.11744del (p.Ile3915ThrfsTer?) c.11729del (p.Ile3910ThrfsTer?) c.11726del (p.Ile3909ThrfsTer?) c.353del c.5113del c.11711del (p.Ile3904ThrfsTer?) c.11741del (p.Ile3914ThrfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543401T>A | CA405661288 | RYR1 | c.154T>A c.136T>A c.11744T>A (p.Ile3915Asn) c.11729T>A (p.Ile3910Asn) c.11726T>A (p.Ile3909Asn) c.353T>A c.5113T>A c.11711T>A (p.Ile3904Asn) c.11741T>A (p.Ile3914Asn) | |
| 19 | g.38543401T>C | CA405661286 | RYR1 | c.154T>C c.136T>C c.11744T>C (p.Ile3915Thr) c.11729T>C (p.Ile3910Thr) c.11726T>C (p.Ile3909Thr) c.353T>C c.5113T>C c.11711T>C (p.Ile3904Thr) c.11741T>C (p.Ile3914Thr) | |
| 19 | g.38543401T>G | CA405661284 | RYR1 | c.154T>G c.136T>G c.11744T>G (p.Ile3915Ser) c.11729T>G (p.Ile3910Ser) c.11726T>G (p.Ile3909Ser) c.353T>G c.5113T>G c.11711T>G (p.Ile3904Ser) c.11741T>G (p.Ile3914Ser) | |
| 19 | g.38543402C>A | CA507354642 | RYR1 | c.155C>A c.137C>A c.11745C>A (p.Ile3915=) c.11730C>A (p.Ile3910=) c.11727C>A (p.Ile3909=) c.354C>A c.5114C>A c.11712C>A (p.Ile3904=) c.11742C>A (p.Ile3914=) | dbSNP |
| 19 | g.38543402C= | CA2335074328 | RYR1 | c.155C= c.137C= c.11745C= (p.Ile3915=) c.11730C= (p.Ile3910=) c.11727C= (p.Ile3909=) c.354C= c.5114C= c.11712C= (p.Ile3904=) c.11742C= (p.Ile3914=) | |
| 19 | g.38543402C>G | CA405661290 | RYR1 | c.155C>G c.137C>G c.11745C>G (p.Ile3915Met) c.11730C>G (p.Ile3910Met) c.11727C>G (p.Ile3909Met) c.354C>G c.5114C>G c.11712C>G (p.Ile3904Met) c.11742C>G (p.Ile3914Met) | |
| 19 | g.38543402C>T | CA507354644 | RYR1 | c.155C>T c.137C>T c.11745C>T (p.Ile3915=) c.11730C>T (p.Ile3910=) c.11727C>T (p.Ile3909=) c.354C>T c.5114C>T c.11712C>T (p.Ile3904=) c.11742C>T (p.Ile3914=) | |
| 19 | g.38543402_38543405delinsCATT | CA2335074327 | RYR1 | c.155_158delinsCATT c.137_140delinsCATT c.11745_11748delinsCATT (p.Ile3915=) c.11730_11733delinsCATT (p.Ile3910=) c.11727_11730delinsCATT (p.Ile3909=) c.354_357delinsCATT c.5114_5117delinsCATT c.11712_11715delinsCATT (p.Ile3904=) c.11742_11745delinsCATT (p.Ile3914=) | |
| 19 | g.38543403A= | CA2335074329 | RYR1 | c.156A= c.138A= c.11746A= (p.Ile3916=) c.11731A= (p.Ile3911=) c.11728A= (p.Ile3910=) c.355A= c.5115A= c.11713A= (p.Ile3905=) c.11743A= (p.Ile3915=) | |
| 19 | g.38543403A>C | CA405661293 | RYR1 | c.156A>C c.138A>C c.11746A>C (p.Ile3916Leu) c.11731A>C (p.Ile3911Leu) c.11728A>C (p.Ile3910Leu) c.355A>C c.5115A>C c.11713A>C (p.Ile3905Leu) c.11743A>C (p.Ile3915Leu) | |
| 19 | g.38543403A>G | CA057583 | RYR1 | c.156A>G c.138A>G c.11746A>G (p.Ile3916Val) c.11731A>G (p.Ile3911Val) c.11728A>G (p.Ile3910Val) c.355A>G c.5115A>G c.11713A>G (p.Ile3905Val) c.11743A>G (p.Ile3915Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38543403A>T | CA405661297 | RYR1 | c.156A>T c.138A>T c.11746A>T (p.Ile3916Phe) c.11731A>T (p.Ile3911Phe) c.11728A>T (p.Ile3910Phe) c.355A>T c.5115A>T c.11713A>T (p.Ile3905Phe) c.11743A>T (p.Ile3915Phe) | |
| 19 | g.38543403_38543405del | CA633066751 | RYR1 | c.156_158del c.138_140del c.11746_11748del (p.Ile3916del) c.11731_11733del (p.Ile3911del) c.11728_11730del (p.Ile3910del) c.355_357del c.5115_5117del c.11713_11715del (p.Ile3905del) c.11743_11745del (p.Ile3915del) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543404T>A | CA405661299 | RYR1 | c.157T>A c.139T>A c.11747T>A (p.Ile3916Asn) c.11732T>A (p.Ile3911Asn) c.11729T>A (p.Ile3910Asn) c.356T>A c.5116T>A c.11714T>A (p.Ile3905Asn) c.11744T>A (p.Ile3915Asn) | |
| 19 | g.38543404T>C | CA405661301 | RYR1 | c.157T>C c.139T>C c.11747T>C (p.Ile3916Thr) c.11732T>C (p.Ile3911Thr) c.11729T>C (p.Ile3910Thr) c.356T>C c.5116T>C c.11714T>C (p.Ile3905Thr) c.11744T>C (p.Ile3915Thr) | |
| 19 | g.38543404T>G | CA405661303 | RYR1 | c.157T>G c.139T>G c.11747T>G (p.Ile3916Ser) c.11732T>G (p.Ile3911Ser) c.11729T>G (p.Ile3910Ser) c.356T>G c.5116T>G c.11714T>G (p.Ile3905Ser) c.11744T>G (p.Ile3915Ser) | |
| 19 | g.38543405T>A | CA507354647 | RYR1 | c.158T>A c.140T>A c.11748T>A (p.Ile3916=) c.11733T>A (p.Ile3911=) c.11730T>A (p.Ile3910=) c.357T>A c.5117T>A c.11715T>A (p.Ile3905=) c.11745T>A (p.Ile3915=) | |
| 19 | g.38543405T>C | CA507354648 | RYR1 | c.158T>C c.140T>C c.11748T>C (p.Ile3916=) c.11733T>C (p.Ile3911=) c.11730T>C (p.Ile3910=) c.357T>C c.5117T>C c.11715T>C (p.Ile3905=) c.11745T>C (p.Ile3915=) | |
| 19 | g.38543405T>G | CA023930 | RYR1 | c.158T>G c.140T>G c.11748T>G (p.Ile3916Met) c.11733T>G (p.Ile3911Met) c.11730T>G (p.Ile3910Met) c.357T>G c.5117T>G c.11715T>G (p.Ile3905Met) c.11745T>G (p.Ile3915Met) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38543405T= | CA2335074330 | RYR1 | c.158T= c.140T= c.11748T= (p.Ile3916=) c.11733T= (p.Ile3911=) c.11730T= (p.Ile3910=) c.357T= c.5117T= c.11715T= (p.Ile3905=) c.11745T= (p.Ile3915=) | |
| 19 | g.38543406T>A | CA405661310 | RYR1 | c.159T>A c.141T>A c.11749T>A (p.Cys3917Ser) c.11734T>A (p.Cys3912Ser) c.11731T>A (p.Cys3911Ser) c.358T>A c.5118T>A c.11716T>A (p.Cys3906Ser) c.11746T>A (p.Cys3916Ser) | |
| 19 | g.38543406T>C | CA405661306 | RYR1 | c.159T>C c.141T>C c.11749T>C (p.Cys3917Arg) c.11734T>C (p.Cys3912Arg) c.11731T>C (p.Cys3911Arg) c.358T>C c.5118T>C c.11716T>C (p.Cys3906Arg) c.11746T>C (p.Cys3916Arg) | |
| 19 | g.38543406T>G | CA405661308 | RYR1 | c.159T>G c.141T>G c.11749T>G (p.Cys3917Gly) c.11734T>G (p.Cys3912Gly) c.11731T>G (p.Cys3911Gly) c.358T>G c.5118T>G c.11716T>G (p.Cys3906Gly) c.11746T>G (p.Cys3916Gly) | |
| 19 | g.38543407G>A | CA405661312 | RYR1 | c.160G>A c.142G>A c.11750G>A (p.Cys3917Tyr) c.11735G>A (p.Cys3912Tyr) c.11732G>A (p.Cys3911Tyr) c.359G>A c.5119G>A c.11717G>A (p.Cys3906Tyr) c.11747G>A (p.Cys3916Tyr) | ClinVar dbSNP |
| 19 | g.38543407G>C | CA405661314 | RYR1 | c.160G>C c.142G>C c.11750G>C (p.Cys3917Ser) c.11735G>C (p.Cys3912Ser) c.11732G>C (p.Cys3911Ser) c.359G>C c.5119G>C c.11717G>C (p.Cys3906Ser) c.11747G>C (p.Cys3916Ser) | |
| 19 | g.38543407G= | CA2335074331 | RYR1 | c.160G= c.142G= c.11750G= (p.Cys3917=) c.11735G= (p.Cys3912=) c.11732G= (p.Cys3911=) c.359G= c.5119G= c.11717G= (p.Cys3906=) c.11747G= (p.Cys3916=) | |
| 19 | g.38543407G>T | CA405661316 | RYR1 | c.160G>T c.142G>T c.11750G>T (p.Cys3917Phe) c.11735G>T (p.Cys3912Phe) c.11732G>T (p.Cys3911Phe) c.359G>T c.5119G>T c.11717G>T (p.Cys3906Phe) c.11747G>T (p.Cys3916Phe) | |
| 19 | g.38543408C>A | CA405661317 | RYR1 | c.161C>A c.143C>A c.11751C>A (p.Cys3917Ter) c.11736C>A (p.Cys3912Ter) c.11733C>A (p.Cys3911Ter) c.360C>A c.5120C>A c.11718C>A (p.Cys3906Ter) c.11748C>A (p.Cys3916Ter) | |
| 19 | g.38543408C= | CA2335074332 | RYR1 | c.161C= c.143C= c.11751C= (p.Cys3917=) c.11736C= (p.Cys3912=) c.11733C= (p.Cys3911=) c.360C= c.5120C= c.11718C= (p.Cys3906=) c.11748C= (p.Cys3916=) | |
| 19 | g.38543408C>G | CA405661319 | RYR1 | c.161C>G c.143C>G c.11751C>G (p.Cys3917Trp) c.11736C>G (p.Cys3912Trp) c.11733C>G (p.Cys3911Trp) c.360C>G c.5120C>G c.11718C>G (p.Cys3906Trp) c.11748C>G (p.Cys3916Trp) | |
| 19 | g.38543408C>T | CA057590 | RYR1 | c.161C>T c.143C>T c.11751C>T (p.Cys3917=) c.11736C>T (p.Cys3912=) c.11733C>T (p.Cys3911=) c.360C>T c.5120C>T c.11718C>T (p.Cys3906=) c.11748C>T (p.Cys3916=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543409A>C | CA405661323 | RYR1 | c.162A>C c.144A>C c.11752A>C (p.Thr3918Pro) c.11737A>C (p.Thr3913Pro) c.11734A>C (p.Thr3912Pro) c.361A>C c.5121A>C c.11719A>C (p.Thr3907Pro) c.11749A>C (p.Thr3917Pro) | gnomAD v4 |
| 19 | g.38543409A>G | CA405661328 | RYR1 | c.162A>G c.144A>G c.11752A>G (p.Thr3918Ala) c.11737A>G (p.Thr3913Ala) c.11734A>G (p.Thr3912Ala) c.361A>G c.5121A>G c.11719A>G (p.Thr3907Ala) c.11749A>G (p.Thr3917Ala) | gnomAD v4 |
| 19 | g.38543409A>T | CA405661326 | RYR1 | c.162A>T c.144A>T c.11752A>T (p.Thr3918Ser) c.11737A>T (p.Thr3913Ser) c.11734A>T (p.Thr3912Ser) c.361A>T c.5121A>T c.11719A>T (p.Thr3907Ser) c.11749A>T (p.Thr3917Ser) | |
| 19 | g.38543410C>A | CA405661330 | RYR1 | c.163C>A c.145C>A c.11753C>A (p.Thr3918Asn) c.11738C>A (p.Thr3913Asn) c.11735C>A (p.Thr3912Asn) c.362C>A c.5122C>A c.11720C>A (p.Thr3907Asn) c.11750C>A (p.Thr3917Asn) | |
| 19 | g.38543410C>G | CA405661332 | RYR1 | c.163C>G c.145C>G c.11753C>G (p.Thr3918Ser) c.11738C>G (p.Thr3913Ser) c.11735C>G (p.Thr3912Ser) c.362C>G c.5122C>G c.11720C>G (p.Thr3907Ser) c.11750C>G (p.Thr3917Ser) | |
| 19 | g.38543410C>T | CA405661334 | RYR1 | c.163C>T c.145C>T c.11753C>T (p.Thr3918Ile) c.11738C>T (p.Thr3913Ile) c.11735C>T (p.Thr3912Ile) c.362C>T c.5122C>T c.11720C>T (p.Thr3907Ile) c.11750C>T (p.Thr3917Ile) | |
| 19 | g.38543411T>A | CA023932 | RYR1 | c.164T>A c.146T>A c.11754T>A (p.Thr3918=) c.11739T>A (p.Thr3913=) c.11736T>A (p.Thr3912=) c.363T>A c.5123T>A c.11721T>A (p.Thr3907=) c.11751T>A (p.Thr3917=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38543411T>C | CA507354744 | RYR1 | c.164T>C c.146T>C c.11754T>C (p.Thr3918=) c.11739T>C (p.Thr3913=) c.11736T>C (p.Thr3912=) c.363T>C c.5123T>C c.11721T>C (p.Thr3907=) c.11751T>C (p.Thr3917=) | |
| 19 | g.38543411T>G | CA308092002 | RYR1 | c.164T>G c.146T>G c.11754T>G (p.Thr3918=) c.11739T>G (p.Thr3913=) c.11736T>G (p.Thr3912=) c.363T>G c.5123T>G c.11721T>G (p.Thr3907=) c.11751T>G (p.Thr3917=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38543411T= | CA2335074333 | RYR1 | c.164T= c.146T= c.11754T= (p.Thr3918=) c.11739T= (p.Thr3913=) c.11736T= (p.Thr3912=) c.363T= c.5123T= c.11721T= (p.Thr3907=) c.11751T= (p.Thr3917=) | |
| 19 | g.38543412G>A | CA405661337 | RYR1 | c.165G>A c.147G>A c.11755G>A (p.Val3919Met) c.11740G>A (p.Val3914Met) c.11737G>A (p.Val3913Met) c.364G>A c.5124G>A c.11722G>A (p.Val3908Met) c.11752G>A (p.Val3918Met) | |
| 19 | g.38543412G>C | CA405661340 | RYR1 | c.165G>C c.147G>C c.11755G>C (p.Val3919Leu) c.11740G>C (p.Val3914Leu) c.11737G>C (p.Val3913Leu) c.364G>C c.5124G>C c.11722G>C (p.Val3908Leu) c.11752G>C (p.Val3918Leu) | |
| 19 | g.38543412G>T | CA405661339 | RYR1 | c.165G>T c.147G>T c.11755G>T (p.Val3919Leu) c.11740G>T (p.Val3914Leu) c.11737G>T (p.Val3913Leu) c.364G>T c.5124G>T c.11722G>T (p.Val3908Leu) c.11752G>T (p.Val3918Leu) | ClinVar |
| 19 | g.38543413T>A | CA405661343 | RYR1 | c.166T>A c.148T>A c.11756T>A (p.Val3919Glu) c.11741T>A (p.Val3914Glu) c.11738T>A (p.Val3913Glu) c.365T>A c.5125T>A c.11723T>A (p.Val3908Glu) c.11753T>A (p.Val3918Glu) | |
| 19 | g.38543413T>C | CA405661345 | RYR1 | c.166T>C c.148T>C c.11756T>C (p.Val3919Ala) c.11741T>C (p.Val3914Ala) c.11738T>C (p.Val3913Ala) c.365T>C c.5125T>C c.11723T>C (p.Val3908Ala) c.11753T>C (p.Val3918Ala) | |
| 19 | g.38543413T>G | CA405661347 | RYR1 | c.166T>G c.148T>G c.11756T>G (p.Val3919Gly) c.11741T>G (p.Val3914Gly) c.11738T>G (p.Val3913Gly) c.365T>G c.5125T>G c.11723T>G (p.Val3908Gly) c.11753T>G (p.Val3918Gly) | |
| 19 | g.38543414G>A | CA507354750 | RYR1 | c.167G>A c.149G>A c.11757G>A (p.Val3919=) c.11742G>A (p.Val3914=) c.11739G>A (p.Val3913=) c.366G>A c.5126G>A c.11724G>A (p.Val3908=) c.11754G>A (p.Val3918=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38543414G>C | CA507354751 | RYR1 | c.167G>C c.149G>C c.11757G>C (p.Val3919=) c.11742G>C (p.Val3914=) c.11739G>C (p.Val3913=) c.366G>C c.5126G>C c.11724G>C (p.Val3908=) c.11754G>C (p.Val3918=) | |
| 19 | g.38543414G>T | CA507354752 | RYR1 | c.167G>T c.149G>T c.11757G>T (p.Val3919=) c.11742G>T (p.Val3914=) c.11739G>T (p.Val3913=) c.366G>T c.5126G>T c.11724G>T (p.Val3908=) c.11754G>T (p.Val3918=) | |
| 19 | g.38543415G>A | CA405661351 | RYR1 | c.168G>A c.150G>A c.11758G>A (p.Asp3920Asn) c.11743G>A (p.Asp3915Asn) c.11740G>A (p.Asp3914Asn) c.367G>A c.5127G>A c.11725G>A (p.Asp3909Asn) c.11755G>A (p.Asp3919Asn) | dbSNP |
| 19 | g.38543415G>C | CA405661353 | RYR1 | c.168G>C c.150G>C c.11758G>C (p.Asp3920His) c.11743G>C (p.Asp3915His) c.11740G>C (p.Asp3914His) c.367G>C c.5127G>C c.11725G>C (p.Asp3909His) c.11755G>C (p.Asp3919His) | |
| 19 | g.38543415G= | CA2335074334 | RYR1 | c.168G= c.150G= c.11758G= (p.Asp3920=) c.11743G= (p.Asp3915=) c.11740G= (p.Asp3914=) c.367G= c.5127G= c.11725G= (p.Asp3909=) c.11755G= (p.Asp3919=) | |
| 19 | g.38543415G>T | CA405661355 | RYR1 | c.168G>T c.150G>T c.11758G>T (p.Asp3920Tyr) c.11743G>T (p.Asp3915Tyr) c.11740G>T (p.Asp3914Tyr) c.367G>T c.5127G>T c.11725G>T (p.Asp3909Tyr) c.11755G>T (p.Asp3919Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543416A>C | CA405661358 | RYR1 | c.169A>C c.151A>C c.11759A>C (p.Asp3920Ala) c.11744A>C (p.Asp3915Ala) c.11741A>C (p.Asp3914Ala) c.368A>C c.5128A>C c.11726A>C (p.Asp3909Ala) c.11756A>C (p.Asp3919Ala) | |
| 19 | g.38543416A>G | CA405661359 | RYR1 | c.169A>G c.151A>G c.11759A>G (p.Asp3920Gly) c.11744A>G (p.Asp3915Gly) c.11741A>G (p.Asp3914Gly) c.368A>G c.5128A>G c.11726A>G (p.Asp3909Gly) c.11756A>G (p.Asp3919Gly) | |
| 19 | g.38543416A>T | CA405661361 | RYR1 | c.169A>T c.151A>T c.11759A>T (p.Asp3920Val) c.11744A>T (p.Asp3915Val) c.11741A>T (p.Asp3914Val) c.368A>T c.5128A>T c.11726A>T (p.Asp3909Val) c.11756A>T (p.Asp3919Val) | |
| 19 | g.38543417C>A | CA405661363 | RYR1 | c.170C>A c.152C>A c.11760C>A (p.Asp3920Glu) c.11745C>A (p.Asp3915Glu) c.11742C>A (p.Asp3914Glu) c.369C>A c.5129C>A c.11727C>A (p.Asp3909Glu) c.11757C>A (p.Asp3919Glu) | |
| 19 | g.38543417C= | CA2335074335 | RYR1 | c.170C= c.152C= c.11760C= (p.Asp3920=) c.11745C= (p.Asp3915=) c.11742C= (p.Asp3914=) c.369C= c.5129C= c.11727C= (p.Asp3909=) c.11757C= (p.Asp3919=) | |
| 19 | g.38543417C>G | CA405661365 | RYR1 | c.170C>G c.152C>G c.11760C>G (p.Asp3920Glu) c.11745C>G (p.Asp3915Glu) c.11742C>G (p.Asp3914Glu) c.369C>G c.5129C>G c.11727C>G (p.Asp3909Glu) c.11757C>G (p.Asp3919Glu) | ClinVar dbSNP |
| 19 | g.38543417C>T | CA507354754 | RYR1 | c.170C>T c.152C>T c.11760C>T (p.Asp3920=) c.11745C>T (p.Asp3915=) c.11742C>T (p.Asp3914=) c.369C>T c.5129C>T c.11727C>T (p.Asp3909=) c.11757C>T (p.Asp3919=) | gnomAD v4 |
| 19 | g.38543418T>A | CA405661366 | RYR1 | c.171T>A c.153T>A c.11761T>A (p.Tyr3921Asn) c.11746T>A (p.Tyr3916Asn) c.11743T>A (p.Tyr3915Asn) c.370T>A c.5130T>A c.11728T>A (p.Tyr3910Asn) c.11758T>A (p.Tyr3920Asn) | |
| 19 | g.38543418T>C | CA405661370 | RYR1 | c.171T>C c.153T>C c.11761T>C (p.Tyr3921His) c.11746T>C (p.Tyr3916His) c.11743T>C (p.Tyr3915His) c.370T>C c.5130T>C c.11728T>C (p.Tyr3910His) c.11758T>C (p.Tyr3920His) | ClinVar |
| 19 | g.38543418T>G | CA405661368 | RYR1 | c.171T>G c.153T>G c.11761T>G (p.Tyr3921Asp) c.11746T>G (p.Tyr3916Asp) c.11743T>G (p.Tyr3915Asp) c.370T>G c.5130T>G c.11728T>G (p.Tyr3910Asp) c.11758T>G (p.Tyr3920Asp) | |
| 19 | g.38543419A= | CA2335074336 | RYR1 | c.172A= c.154A= c.11762A= (p.Tyr3921=) c.11747A= (p.Tyr3916=) c.11744A= (p.Tyr3915=) c.371A= c.5131A= c.11729A= (p.Tyr3910=) c.11759A= (p.Tyr3920=) | |
| 19 | g.38543419A>C | CA405661373 | RYR1 | c.172A>C c.154A>C c.11762A>C (p.Tyr3921Ser) c.11747A>C (p.Tyr3916Ser) c.11744A>C (p.Tyr3915Ser) c.371A>C c.5131A>C c.11729A>C (p.Tyr3910Ser) c.11759A>C (p.Tyr3920Ser) | dbSNP |
| 19 | g.38543419A>G | CA405661378 | RYR1 | c.172A>G c.154A>G c.11762A>G (p.Tyr3921Cys) c.11747A>G (p.Tyr3916Cys) c.11744A>G (p.Tyr3915Cys) c.371A>G c.5131A>G c.11729A>G (p.Tyr3910Cys) c.11759A>G (p.Tyr3920Cys) | |
| 19 | g.38543419A>T | CA405661375 | RYR1 | c.172A>T c.154A>T c.11762A>T (p.Tyr3921Phe) c.11747A>T (p.Tyr3916Phe) c.11744A>T (p.Tyr3915Phe) c.371A>T c.5131A>T c.11729A>T (p.Tyr3910Phe) c.11759A>T (p.Tyr3920Phe) | |
| 19 | g.38543420C>A | CA023934 | RYR1 | c.173C>A c.155C>A c.11763C>A (p.Tyr3921Ter) c.11748C>A (p.Tyr3916Ter) c.11745C>A (p.Tyr3915Ter) c.372C>A c.5132C>A c.11730C>A (p.Tyr3910Ter) c.11760C>A (p.Tyr3920Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543420C= | CA2335074337 | RYR1 | c.173C= c.155C= c.11763C= (p.Tyr3921=) c.11748C= (p.Tyr3916=) c.11745C= (p.Tyr3915=) c.372C= c.5132C= c.11730C= (p.Tyr3910=) c.11760C= (p.Tyr3920=) | |
| 19 | g.38543420C>G | CA405661392 | RYR1 | c.173C>G c.155C>G c.11763C>G (p.Tyr3921Ter) c.11748C>G (p.Tyr3916Ter) c.11745C>G (p.Tyr3915Ter) c.372C>G c.5132C>G c.11730C>G (p.Tyr3910Ter) c.11760C>G (p.Tyr3920Ter) | |
| 19 | g.38543420C>T | CA507354760 | RYR1 | c.173C>T c.155C>T c.11763C>T (p.Tyr3921=) c.11748C>T (p.Tyr3916=) c.11745C>T (p.Tyr3915=) c.372C>T c.5132C>T c.11730C>T (p.Tyr3910=) c.11760C>T (p.Tyr3920=) | |
| 19 | g.38543421C>A | CA405661395 | RYR1 | c.174C>A c.156C>A c.11764C>A (p.Leu3922Ile) c.11749C>A (p.Leu3917Ile) c.11746C>A (p.Leu3916Ile) c.373C>A c.5133C>A c.11731C>A (p.Leu3911Ile) c.11761C>A (p.Leu3921Ile) | |
| 19 | g.38543421C>G | CA405661397 | RYR1 | c.174C>G c.156C>G c.11764C>G (p.Leu3922Val) c.11749C>G (p.Leu3917Val) c.11746C>G (p.Leu3916Val) c.373C>G c.5133C>G c.11731C>G (p.Leu3911Val) c.11761C>G (p.Leu3921Val) | |
| 19 | g.38543421C>T | CA405661400 | RYR1 | c.174C>T c.156C>T c.11764C>T (p.Leu3922Phe) c.11749C>T (p.Leu3917Phe) c.11746C>T (p.Leu3916Phe) c.373C>T c.5133C>T c.11731C>T (p.Leu3911Phe) c.11761C>T (p.Leu3921Phe) | |
| 19 | g.38543422T>A | CA405661404 | RYR1 | c.175T>A c.157T>A c.11765T>A (p.Leu3922His) c.11750T>A (p.Leu3917His) c.11747T>A (p.Leu3916His) c.374T>A c.5134T>A c.11732T>A (p.Leu3911His) c.11762T>A (p.Leu3921His) | |
| 19 | g.38543422T>C | CA405661406 | RYR1 | c.175T>C c.157T>C c.11765T>C (p.Leu3922Pro) c.11750T>C (p.Leu3917Pro) c.11747T>C (p.Leu3916Pro) c.374T>C c.5134T>C c.11732T>C (p.Leu3911Pro) c.11762T>C (p.Leu3921Pro) | |
| 19 | g.38543422T>G | CA405661409 | RYR1 | c.175T>G c.157T>G c.11765T>G (p.Leu3922Arg) c.11750T>G (p.Leu3917Arg) c.11747T>G (p.Leu3916Arg) c.374T>G c.5134T>G c.11732T>G (p.Leu3911Arg) c.11762T>G (p.Leu3921Arg) | |
| 19 | g.38543423C>A | CA080423 | RYR1 | c.176C>A c.158C>A c.11766C>A (p.Leu3922=) c.11751C>A (p.Leu3917=) c.11748C>A (p.Leu3916=) c.375C>A c.5135C>A c.11733C>A (p.Leu3911=) c.11763C>A (p.Leu3921=) | |
| 19 | g.38543423C>G | CA507354767 | RYR1 | c.176C>G c.158C>G c.11766C>G (p.Leu3922=) c.11751C>G (p.Leu3917=) c.11748C>G (p.Leu3916=) c.375C>G c.5135C>G c.11733C>G (p.Leu3911=) c.11763C>G (p.Leu3921=) | |
| 19 | g.38543423C>T | CA507354768 | RYR1 | c.176C>T c.158C>T c.11766C>T (p.Leu3922=) c.11751C>T (p.Leu3917=) c.11748C>T (p.Leu3916=) c.375C>T c.5135C>T c.11733C>T (p.Leu3911=) c.11763C>T (p.Leu3921=) | |
| 19 | g.38543424C>A | CA405661412 | RYR1 | c.177C>A c.159C>A c.11767C>A (p.Leu3923Met) c.11752C>A (p.Leu3918Met) c.11749C>A (p.Leu3917Met) c.376C>A c.5136C>A c.11734C>A (p.Leu3912Met) c.11764C>A (p.Leu3922Met) | |
| 19 | g.38543424C>G | CA405661413 | RYR1 | c.177C>G c.159C>G c.11767C>G (p.Leu3923Val) c.11752C>G (p.Leu3918Val) c.11749C>G (p.Leu3917Val) c.376C>G c.5136C>G c.11734C>G (p.Leu3912Val) c.11764C>G (p.Leu3922Val) | |
| 19 | g.38543424C>T | CA507354769 | RYR1 | c.177C>T c.159C>T c.11767C>T (p.Leu3923=) c.11752C>T (p.Leu3918=) c.11749C>T (p.Leu3917=) c.376C>T c.5136C>T c.11734C>T (p.Leu3912=) c.11764C>T (p.Leu3922=) | gnomAD v4 |
| 19 | g.38543425T>A | CA405661415 | RYR1 | c.178T>A c.160T>A c.11768T>A (p.Leu3923Gln) c.11753T>A (p.Leu3918Gln) c.11750T>A (p.Leu3917Gln) c.377T>A c.5137T>A c.11735T>A (p.Leu3912Gln) c.11765T>A (p.Leu3922Gln) | |
| 19 | g.38543425T>C | CA405661416 | RYR1 | c.178T>C c.160T>C c.11768T>C (p.Leu3923Pro) c.11753T>C (p.Leu3918Pro) c.11750T>C (p.Leu3917Pro) c.377T>C c.5137T>C c.11735T>C (p.Leu3912Pro) c.11765T>C (p.Leu3922Pro) | |
| 19 | g.38543425T>G | CA405661418 | RYR1 | c.178T>G c.160T>G c.11768T>G (p.Leu3923Arg) c.11753T>G (p.Leu3918Arg) c.11750T>G (p.Leu3917Arg) c.377T>G c.5137T>G c.11735T>G (p.Leu3912Arg) c.11765T>G (p.Leu3922Arg) | |
| 19 | g.38543426G>A | CA507354772 | RYR1 | c.179G>A c.161G>A c.11769G>A (p.Leu3923=) c.11754G>A (p.Leu3918=) c.11751G>A (p.Leu3917=) c.378G>A c.5138G>A c.11736G>A (p.Leu3912=) c.11766G>A (p.Leu3922=) | |
| 19 | g.38543426G>C | CA507354774 | RYR1 | c.179G>C c.161G>C c.11769G>C (p.Leu3923=) c.11754G>C (p.Leu3918=) c.11751G>C (p.Leu3917=) c.378G>C c.5138G>C c.11736G>C (p.Leu3912=) c.11766G>C (p.Leu3922=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543426G= | CA2335074338 | RYR1 | c.179G= c.161G= c.11769G= (p.Leu3923=) c.11754G= (p.Leu3918=) c.11751G= (p.Leu3917=) c.378G= c.5138G= c.11736G= (p.Leu3912=) c.11766G= (p.Leu3922=) | |
| 19 | g.38543426G>T | CA507354776 | RYR1 | c.179G>T c.161G>T c.11769G>T (p.Leu3923=) c.11754G>T (p.Leu3918=) c.11751G>T (p.Leu3917=) c.378G>T c.5138G>T c.11736G>T (p.Leu3912=) c.11766G>T (p.Leu3922=) | |
| 19 | g.38543427C>A | CA507354779 | RYR1 | c.180C>A c.162C>A c.11770C>A (p.Arg3924=) c.11755C>A (p.Arg3919=) c.11752C>A (p.Arg3918=) c.379C>A c.5139C>A c.11737C>A (p.Arg3913=) c.11767C>A (p.Arg3923=) | |
| 19 | g.38543427C>G | CA405661421 | RYR1 | c.180C>G c.162C>G c.11770C>G (p.Arg3924Gly) c.11755C>G (p.Arg3919Gly) c.11752C>G (p.Arg3918Gly) c.379C>G c.5139C>G c.11737C>G (p.Arg3913Gly) c.11767C>G (p.Arg3923Gly) | |
| 19 | g.38543427C>T | CA405661432 | RYR1 | c.180C>T c.162C>T c.11770C>T (p.Arg3924Trp) c.11755C>T (p.Arg3919Trp) c.11752C>T (p.Arg3918Trp) c.379C>T c.5139C>T c.11737C>T (p.Arg3913Trp) c.11767C>T (p.Arg3923Trp) | gnomAD v4 |
| 19 | g.38543428G>A | CA057601 | RYR1 | c.181G>A c.163G>A c.11771G>A (p.Arg3924Gln) c.11756G>A (p.Arg3919Gln) c.11753G>A (p.Arg3918Gln) c.380G>A c.5140G>A c.11738G>A (p.Arg3913Gln) c.11768G>A (p.Arg3923Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38543428G>C | CA405661436 | RYR1 | c.181G>C c.163G>C c.11771G>C (p.Arg3924Pro) c.11756G>C (p.Arg3919Pro) c.11753G>C (p.Arg3918Pro) c.380G>C c.5140G>C c.11738G>C (p.Arg3913Pro) c.11768G>C (p.Arg3923Pro) | |
| 19 | g.38543428G= | CA2335074339 | RYR1 | c.181G= c.163G= c.11771G= (p.Arg3924=) c.11756G= (p.Arg3919=) c.11753G= (p.Arg3918=) c.380G= c.5140G= c.11738G= (p.Arg3913=) c.11768G= (p.Arg3923=) | |
| 19 | g.38543428G>T | CA405661439 | RYR1 | c.181G>T c.163G>T c.11771G>T (p.Arg3924Leu) c.11756G>T (p.Arg3919Leu) c.11753G>T (p.Arg3918Leu) c.380G>T c.5140G>T c.11738G>T (p.Arg3913Leu) c.11768G>T (p.Arg3923Leu) | |
| 19 | g.38543429G>A | CA507354781 | RYR1 | c.182G>A c.164G>A c.11772G>A (p.Arg3924=) c.11757G>A (p.Arg3919=) c.11754G>A (p.Arg3918=) c.381G>A c.5141G>A c.11739G>A (p.Arg3913=) c.11769G>A (p.Arg3923=) | |
| 19 | g.38543429G>C | CA507354783 | RYR1 | c.182G>C c.164G>C c.11772G>C (p.Arg3924=) c.11757G>C (p.Arg3919=) c.11754G>C (p.Arg3918=) c.381G>C c.5141G>C c.11739G>C (p.Arg3913=) c.11769G>C (p.Arg3923=) | |
| 19 | g.38543429G>T | CA507354782 | RYR1 | c.182G>T c.164G>T c.11772G>T (p.Arg3924=) c.11757G>T (p.Arg3919=) c.11754G>T (p.Arg3918=) c.381G>T c.5141G>T c.11739G>T (p.Arg3913=) c.11769G>T (p.Arg3923=) | |
| 19 | g.38543430C>A | CA405661442 | RYR1 | c.183C>A c.165C>A c.11773C>A (p.Leu3925Met) c.11758C>A (p.Leu3920Met) c.11755C>A (p.Leu3919Met) c.382C>A c.5142C>A c.11740C>A (p.Leu3914Met) c.11770C>A (p.Leu3924Met) | |
| 19 | g.38543430C= | CA2335074340 | RYR1 | c.183C= c.165C= c.11773C= (p.Leu3925=) c.11758C= (p.Leu3920=) c.11755C= (p.Leu3919=) c.382C= c.5142C= c.11740C= (p.Leu3914=) c.11770C= (p.Leu3924=) | |
| 19 | g.38543430C>G | CA405661444 | RYR1 | c.183C>G c.165C>G c.11773C>G (p.Leu3925Val) c.11758C>G (p.Leu3920Val) c.11755C>G (p.Leu3919Val) c.382C>G c.5142C>G c.11740C>G (p.Leu3914Val) c.11770C>G (p.Leu3924Val) | |
| 19 | g.38543430C>T | CA507354784 | RYR1 | c.183C>T c.165C>T c.11773C>T (p.Leu3925=) c.11758C>T (p.Leu3920=) c.11755C>T (p.Leu3919=) c.382C>T c.5142C>T c.11740C>T (p.Leu3914=) c.11770C>T (p.Leu3924=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543431T>A | CA405661445 | RYR1 | c.184T>A c.166T>A c.11774T>A (p.Leu3925Gln) c.11759T>A (p.Leu3920Gln) c.11756T>A (p.Leu3919Gln) c.383T>A c.5143T>A c.11741T>A (p.Leu3914Gln) c.11771T>A (p.Leu3924Gln) | |
| 19 | g.38543431T>C | CA405661447 | RYR1 | c.184T>C c.166T>C c.11774T>C (p.Leu3925Pro) c.11759T>C (p.Leu3920Pro) c.11756T>C (p.Leu3919Pro) c.383T>C c.5143T>C c.11741T>C (p.Leu3914Pro) c.11771T>C (p.Leu3924Pro) | gnomAD v4 |
| 19 | g.38543431T>G | CA405661449 | RYR1 | c.184T>G c.166T>G c.11774T>G (p.Leu3925Arg) c.11759T>G (p.Leu3920Arg) c.11756T>G (p.Leu3919Arg) c.383T>G c.5143T>G c.11741T>G (p.Leu3914Arg) c.11771T>G (p.Leu3924Arg) | |
| 19 | g.38543432G>A | CA507354787 | RYR1 | c.185G>A c.167G>A c.11775G>A (p.Leu3925=) c.11760G>A (p.Leu3920=) c.11757G>A (p.Leu3919=) c.384G>A c.5144G>A c.11742G>A (p.Leu3914=) c.11772G>A (p.Leu3924=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543432G>C | CA507354789 | RYR1 | c.185G>C c.167G>C c.11775G>C (p.Leu3925=) c.11760G>C (p.Leu3920=) c.11757G>C (p.Leu3919=) c.384G>C c.5144G>C c.11742G>C (p.Leu3914=) c.11772G>C (p.Leu3924=) | |
| 19 | g.38543432G= | CA2335074341 | RYR1 | c.185G= c.167G= c.11775G= (p.Leu3925=) c.11760G= (p.Leu3920=) c.11757G= (p.Leu3919=) c.384G= c.5144G= c.11742G= (p.Leu3914=) c.11772G= (p.Leu3924=) | |
| 19 | g.38543432G>T | CA507354791 | RYR1 | c.185G>T c.167G>T c.11775G>T (p.Leu3925=) c.11760G>T (p.Leu3920=) c.11757G>T (p.Leu3919=) c.384G>T c.5144G>T c.11742G>T (p.Leu3914=) c.11772G>T (p.Leu3924=) | |
| 19 | g.38543433C>A | CA405661451 | RYR1 | c.186C>A c.168C>A c.11776C>A (p.Gln3926Lys) c.11761C>A (p.Gln3921Lys) c.11758C>A (p.Gln3920Lys) c.385C>A c.5145C>A c.11743C>A (p.Gln3915Lys) c.11773C>A (p.Gln3925Lys) | |
| 19 | g.38543433C>G | CA405661453 | RYR1 | c.186C>G c.168C>G c.11776C>G (p.Gln3926Glu) c.11761C>G (p.Gln3921Glu) c.11758C>G (p.Gln3920Glu) c.385C>G c.5145C>G c.11743C>G (p.Gln3915Glu) c.11773C>G (p.Gln3925Glu) | |
| 19 | g.38543433C>T | CA405661456 | RYR1 | c.186C>T c.168C>T c.11776C>T (p.Gln3926Ter) c.11761C>T (p.Gln3921Ter) c.11758C>T (p.Gln3920Ter) c.385C>T c.5145C>T c.11743C>T (p.Gln3915Ter) c.11773C>T (p.Gln3925Ter) | ClinVar |
| 19 | g.38543434A>C | CA405661468 | RYR1 | c.187A>C c.169A>C c.11777A>C (p.Gln3926Pro) c.11762A>C (p.Gln3921Pro) c.11759A>C (p.Gln3920Pro) c.386A>C c.5146A>C c.11744A>C (p.Gln3915Pro) c.11774A>C (p.Gln3925Pro) | |
| 19 | g.38543434A>G | CA405661465 | RYR1 | c.187A>G c.169A>G c.11777A>G (p.Gln3926Arg) c.11762A>G (p.Gln3921Arg) c.11759A>G (p.Gln3920Arg) c.386A>G c.5146A>G c.11744A>G (p.Gln3915Arg) c.11774A>G (p.Gln3925Arg) | |
| 19 | g.38543434A>T | CA405661460 | RYR1 | c.187A>T c.169A>T c.11777A>T (p.Gln3926Leu) c.11762A>T (p.Gln3921Leu) c.11759A>T (p.Gln3920Leu) c.386A>T c.5146A>T c.11744A>T (p.Gln3915Leu) c.11774A>T (p.Gln3925Leu) | |
| 19 | g.38543435G>A | CA023936 | RYR1 | c.188G>A c.170G>A c.11778G>A (p.Gln3926=) c.11763G>A (p.Gln3921=) c.11760G>A (p.Gln3920=) c.387G>A c.5147G>A c.11745G>A (p.Gln3915=) c.11775G>A (p.Gln3925=) | ClinVar dbSNP |
| 19 | g.38543435G>C | CA405661473 | RYR1 | c.188G>C c.170G>C c.11778G>C (p.Gln3926His) c.11763G>C (p.Gln3921His) c.11760G>C (p.Gln3920His) c.387G>C c.5147G>C c.11745G>C (p.Gln3915His) c.11775G>C (p.Gln3925His) | |
| 19 | g.38543435G= | CA2335074342 | RYR1 | c.188G= c.170G= c.11778G= (p.Gln3926=) c.11763G= (p.Gln3921=) c.11760G= (p.Gln3920=) c.387G= c.5147G= c.11745G= (p.Gln3915=) c.11775G= (p.Gln3925=) | |
| 19 | g.38543435G>T | CA405661478 | RYR1 | c.188G>T c.170G>T c.11778G>T (p.Gln3926His) c.11763G>T (p.Gln3921His) c.11760G>T (p.Gln3920His) c.387G>T c.5147G>T c.11745G>T (p.Gln3915His) c.11775G>T (p.Gln3925His) | dbSNP |
| 19 | g.38543436G>A | CA405661481 | RYR1 | c.188+1G>A c.170+1G>A c.11778+1G>A (n.11778+1G>A) c.11763+1G>A (n.11763+1G>A) c.11760+1G>A (n.11760+1G>A) c.387+1G>A c.5147+1G>A c.11745+1G>A (n.11745+1G>A) c.11775+1G>A (n.11775+1G>A) | |
| 19 | g.38543436G>C | CA405661482 | RYR1 | c.188+1G>C c.170+1G>C c.11778+1G>C (n.11778+1G>C) c.11763+1G>C (n.11763+1G>C) c.11760+1G>C (n.11760+1G>C) c.387+1G>C c.5147+1G>C c.11745+1G>C (n.11745+1G>C) c.11775+1G>C (n.11775+1G>C) | |
| 19 | g.38543436G= | CA2335074343 | RYR1 | c.188+1G= c.170+1G= c.11778+1G= (n.11778+1G=) c.11763+1G= (n.11763+1G=) c.11760+1G= (n.11760+1G=) c.387+1G= c.5147+1G= c.11745+1G= (n.11745+1G=) c.11775+1G= (n.11775+1G=) | |
| 19 | g.38543436G>T | CA405661484 | RYR1 | c.188+1G>T c.170+1G>T c.11778+1G>T (n.11778+1G>T) c.11763+1G>T (n.11763+1G>T) c.11760+1G>T (n.11760+1G>T) c.387+1G>T c.5147+1G>T c.11745+1G>T (n.11745+1G>T) c.11775+1G>T (n.11775+1G>T) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38543437T>A | CA405661487 | RYR1 | c.188+2T>A c.170+2T>A c.11778+2T>A (n.11778+2T>A) c.11763+2T>A (n.11763+2T>A) c.11760+2T>A (n.11760+2T>A) c.387+2T>A c.5147+2T>A c.11745+2T>A (n.11745+2T>A) c.11775+2T>A (n.11775+2T>A) | |
| 19 | g.38543437T>C | CA405661488 | RYR1 | c.188+2T>C c.170+2T>C c.11778+2T>C (n.11778+2T>C) c.11763+2T>C (n.11763+2T>C) c.11760+2T>C (n.11760+2T>C) c.387+2T>C c.5147+2T>C c.11745+2T>C (n.11745+2T>C) c.11775+2T>C (n.11775+2T>C) | dbSNP |
| 19 | g.38543437T>G | CA405661491 | RYR1 | c.188+2T>G c.170+2T>G c.11778+2T>G (n.11778+2T>G) c.11763+2T>G (n.11763+2T>G) c.11760+2T>G (n.11760+2T>G) c.387+2T>G c.5147+2T>G c.11745+2T>G (n.11745+2T>G) c.11775+2T>G (n.11775+2T>G) | dbSNP |
| 19 | g.38543437T= | CA2335074344 | RYR1 | c.188+2T= c.170+2T= c.11778+2T= (n.11778+2T=) c.11763+2T= (n.11763+2T=) c.11760+2T= (n.11760+2T=) c.387+2T= c.5147+2T= c.11745+2T= (n.11745+2T=) c.11775+2T= (n.11775+2T=) | |
| 19 | g.38543438G>C | CA057637 | RYR1 | c.188+3G>C c.170+3G>C c.11778+3G>C (n.11778+3G>C) c.11763+3G>C (n.11763+3G>C) c.11760+3G>C (n.11760+3G>C) c.387+3G>C c.5147+3G>C c.11745+3G>C (n.11745+3G>C) c.11775+3G>C (n.11775+3G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543438G= | CA2335074345 | RYR1 | c.188+3G= c.170+3G= c.11778+3G= (n.11778+3G=) c.11763+3G= (n.11763+3G=) c.11760+3G= (n.11760+3G=) c.387+3G= c.5147+3G= c.11745+3G= (n.11745+3G=) c.11775+3G= (n.11775+3G=) | |
| 19 | g.38543440G>A | CA057648 | RYR1 | c.188+5G>A c.170+5G>A c.11778+5G>A (n.11778+5G>A) c.11763+5G>A (n.11763+5G>A) c.11760+5G>A (n.11760+5G>A) c.387+5G>A c.5147+5G>A c.11745+5G>A (n.11745+5G>A) c.11775+5G>A (n.11775+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38543440G= | CA2335074346 | RYR1 | c.188+5G= c.170+5G= c.11778+5G= (n.11778+5G=) c.11763+5G= (n.11763+5G=) c.11760+5G= (n.11760+5G=) c.387+5G= c.5147+5G= c.11745+5G= (n.11745+5G=) c.11775+5G= (n.11775+5G=) | |
| 19 | g.38543443C= | CA2335074347 | RYR1 | c.188+8C= c.170+8C= c.11778+8C= (n.11778+8C=) c.11763+8C= (n.11763+8C=) c.11760+8C= (n.11760+8C=) c.387+8C= c.5147+8C= c.11745+8C= (n.11745+8C=) c.11775+8C= (n.11775+8C=) | |
| 19 | g.38543443C>G | CA633066752 | RYR1 | c.188+8C>G c.170+8C>G c.11778+8C>G (n.11778+8C>G) c.11763+8C>G (n.11763+8C>G) c.11760+8C>G (n.11760+8C>G) c.387+8C>G c.5147+8C>G c.11745+8C>G (n.11745+8C>G) c.11775+8C>G (n.11775+8C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543443C>T | CA308092027 | RYR1 | c.188+8C>T c.170+8C>T c.11778+8C>T (n.11778+8C>T) c.11763+8C>T (n.11763+8C>T) c.11760+8C>T (n.11760+8C>T) c.387+8C>T c.5147+8C>T c.11745+8C>T (n.11745+8C>T) c.11775+8C>T (n.11775+8C>T) | dbSNP gnomAD v4 |
| 19 | g.38543444G>A | CA057653 | RYR1 | c.188+9G>A c.170+9G>A c.11778+9G>A (n.11778+9G>A) c.11763+9G>A (n.11763+9G>A) c.11760+9G>A (n.11760+9G>A) c.387+9G>A c.5147+9G>A c.11745+9G>A (n.11745+9G>A) c.11775+9G>A (n.11775+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38543444G>C | CA308092040 | RYR1 | c.188+9G>C c.170+9G>C c.11778+9G>C (n.11778+9G>C) c.11763+9G>C (n.11763+9G>C) c.11760+9G>C (n.11760+9G>C) c.387+9G>C c.5147+9G>C c.11745+9G>C (n.11745+9G>C) c.11775+9G>C (n.11775+9G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543444G= | CA2335074348 | RYR1 | c.188+9G= c.170+9G= c.11778+9G= (n.11778+9G=) c.11763+9G= (n.11763+9G=) c.11760+9G= (n.11760+9G=) c.387+9G= c.5147+9G= c.11745+9G= (n.11745+9G=) c.11775+9G= (n.11775+9G=) | |
| 19 | g.38543444G>T | CA2584908083 | RYR1 | c.188+9G>T c.170+9G>T c.11778+9G>T (n.11778+9G>T) c.11763+9G>T (n.11763+9G>T) c.11760+9G>T (n.11760+9G>T) c.387+9G>T c.5147+9G>T c.11745+9G>T (n.11745+9G>T) c.11775+9G>T (n.11775+9G>T) | gnomAD v4 |
| 19 | g.38543446G>C | CA2584908084 | RYR1 | c.188+11G>C c.170+11G>C c.11778+11G>C (n.11778+11G>C) c.11763+11G>C (n.11763+11G>C) c.11760+11G>C (n.11760+11G>C) c.387+11G>C c.5147+11G>C c.11745+11G>C (n.11745+11G>C) c.11775+11G>C (n.11775+11G>C) | gnomAD v4 |
| 19 | g.38543448del | CA2697556581 | RYR1 | c.188+13del c.170+13del c.11778+13del (n.11778+13del) c.11763+13del (n.11763+13del) c.11760+13del (n.11760+13del) c.387+13del c.5147+13del c.11745+13del (n.11745+13del) c.11775+13del (n.11775+13del) | ClinVar |
| 19 | g.38543448G>A | CA10587329 | RYR1 | c.188+13G>A c.170+13G>A c.11778+13G>A (n.11778+13G>A) c.11763+13G>A (n.11763+13G>A) c.11760+13G>A (n.11760+13G>A) c.387+13G>A c.5147+13G>A c.11745+13G>A (n.11745+13G>A) c.11775+13G>A (n.11775+13G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543448G= | CA2335074349 | RYR1 | c.188+13G= c.170+13G= c.11778+13G= (n.11778+13G=) c.11763+13G= (n.11763+13G=) c.11760+13G= (n.11760+13G=) c.387+13G= c.5147+13G= c.11745+13G= (n.11745+13G=) c.11775+13G= (n.11775+13G=) | |
| 19 | g.38543450C= | CA2335074350 | RYR1 | c.188+15C= c.170+15C= c.11778+15C= (n.11778+15C=) c.11763+15C= (n.11763+15C=) c.11760+15C= (n.11760+15C=) c.387+15C= c.5147+15C= c.11745+15C= (n.11745+15C=) c.11775+15C= (n.11775+15C=) | |
| 19 | g.38543450C>T | CA633066753 | RYR1 | c.188+15C>T c.170+15C>T c.11778+15C>T (n.11778+15C>T) c.11763+15C>T (n.11763+15C>T) c.11760+15C>T (n.11760+15C>T) c.387+15C>T c.5147+15C>T c.11745+15C>T (n.11745+15C>T) c.11775+15C>T (n.11775+15C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543451G>A | CA995728728 | RYR1 | c.188+16G>A c.170+16G>A c.11778+16G>A (n.11778+16G>A) c.11763+16G>A (n.11763+16G>A) c.11760+16G>A (n.11760+16G>A) c.387+16G>A c.5147+16G>A c.11745+16G>A (n.11745+16G>A) c.11775+16G>A (n.11775+16G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38543451G>C | CA057603 | RYR1 | c.188+16G>C c.170+16G>C c.11778+16G>C (n.11778+16G>C) c.11763+16G>C (n.11763+16G>C) c.11760+16G>C (n.11760+16G>C) c.387+16G>C c.5147+16G>C c.11745+16G>C (n.11745+16G>C) c.11775+16G>C (n.11775+16G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38543451G= | CA2335074351 | RYR1 | c.188+16G= c.170+16G= c.11778+16G= (n.11778+16G=) c.11763+16G= (n.11763+16G=) c.11760+16G= (n.11760+16G=) c.387+16G= c.5147+16G= c.11745+16G= (n.11745+16G=) c.11775+16G= (n.11775+16G=) | |
| 19 | g.38543452G= | CA2335074352 | RYR1 | c.188+17G= c.170+17G= c.11778+17G= (n.11778+17G=) c.11763+17G= (n.11763+17G=) c.11760+17G= (n.11760+17G=) c.387+17G= c.5147+17G= c.11745+17G= (n.11745+17G=) c.11775+17G= (n.11775+17G=) | |
| 19 | g.38543452G>T | CA633066754 | RYR1 | c.188+17G>T c.170+17G>T c.11778+17G>T (n.11778+17G>T) c.11763+17G>T (n.11763+17G>T) c.11760+17G>T (n.11760+17G>T) c.387+17G>T c.5147+17G>T c.11745+17G>T (n.11745+17G>T) c.11775+17G>T (n.11775+17G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543453T>G | CA2335074354 | RYR1 | c.188+18T>G c.170+18T>G c.11778+18T>G (n.11778+18T>G) c.11763+18T>G (n.11763+18T>G) c.11760+18T>G (n.11760+18T>G) c.387+18T>G c.5147+18T>G c.11745+18T>G (n.11745+18T>G) c.11775+18T>G (n.11775+18T>G) | dbSNP |
| 19 | g.38543453T= | CA2335074353 | RYR1 | c.188+18T= c.170+18T= c.11778+18T= (n.11778+18T=) c.11763+18T= (n.11763+18T=) c.11760+18T= (n.11760+18T=) c.387+18T= c.5147+18T= c.11745+18T= (n.11745+18T=) c.11775+18T= (n.11775+18T=) | |
| 19 | g.38543457G>C | CA2814346145 | RYR1 | c.188+22G>C c.170+22G>C c.11778+22G>C (n.11778+22G>C) c.11763+22G>C (n.11763+22G>C) c.11760+22G>C (n.11760+22G>C) c.387+22G>C c.5147+22G>C c.11745+22G>C (n.11745+22G>C) c.11775+22G>C (n.11775+22G>C) | |
| 19 | g.38543458G>A | CA995728732 | RYR1 | c.188+23G>A c.170+23G>A c.11778+23G>A (n.11778+23G>A) c.11763+23G>A (n.11763+23G>A) c.11760+23G>A (n.11760+23G>A) c.387+23G>A c.5147+23G>A c.11745+23G>A (n.11745+23G>A) c.11775+23G>A (n.11775+23G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38543458G= | CA2335074355 | RYR1 | c.188+23G= c.170+23G= c.11778+23G= (n.11778+23G=) c.11763+23G= (n.11763+23G=) c.11760+23G= (n.11760+23G=) c.387+23G= c.5147+23G= c.11745+23G= (n.11745+23G=) c.11775+23G= (n.11775+23G=) | |
| 19 | g.38543458G>T | CA2576804829 | RYR1 | c.188+23G>T c.170+23G>T c.11778+23G>T (n.11778+23G>T) c.11763+23G>T (n.11763+23G>T) c.11760+23G>T (n.11760+23G>T) c.387+23G>T c.5147+23G>T c.11745+23G>T (n.11745+23G>T) c.11775+23G>T (n.11775+23G>T) | |
| 19 | g.38543459T>C | CA633066755 | RYR1 | c.188+24T>C c.170+24T>C c.11778+24T>C (n.11778+24T>C) c.11763+24T>C (n.11763+24T>C) c.11760+24T>C (n.11760+24T>C) c.387+24T>C c.5147+24T>C c.11745+24T>C (n.11745+24T>C) c.11775+24T>C (n.11775+24T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543459T>G | CA2584908085 | RYR1 | c.188+24T>G c.170+24T>G c.11778+24T>G (n.11778+24T>G) c.11763+24T>G (n.11763+24T>G) c.11760+24T>G (n.11760+24T>G) c.387+24T>G c.5147+24T>G c.11745+24T>G (n.11745+24T>G) c.11775+24T>G (n.11775+24T>G) | gnomAD v4 |
| 19 | g.38543459T= | CA2335074356 | RYR1 | c.188+24T= c.170+24T= c.11778+24T= (n.11778+24T=) c.11763+24T= (n.11763+24T=) c.11760+24T= (n.11760+24T=) c.387+24T= c.5147+24T= c.11745+24T= (n.11745+24T=) c.11775+24T= (n.11775+24T=) | |
| 19 | g.38543460G= | CA2335074357 | RYR1 | c.188+25G= c.170+25G= c.11778+25G= (n.11778+25G=) c.11763+25G= (n.11763+25G=) c.11760+25G= (n.11760+25G=) c.387+25G= c.5147+25G= c.11745+25G= (n.11745+25G=) c.11775+25G= (n.11775+25G=) | |
| 19 | g.38543460G>T | CA057610 | RYR1 | c.188+25G>T c.170+25G>T c.11778+25G>T (n.11778+25G>T) c.11763+25G>T (n.11763+25G>T) c.11760+25G>T (n.11760+25G>T) c.387+25G>T c.5147+25G>T c.11745+25G>T (n.11745+25G>T) c.11775+25G>T (n.11775+25G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543461T>G | CA633066756 | RYR1 | c.188+26T>G c.170+26T>G c.11778+26T>G (n.11778+26T>G) c.11763+26T>G (n.11763+26T>G) c.11760+26T>G (n.11760+26T>G) c.387+26T>G c.5147+26T>G c.11745+26T>G (n.11745+26T>G) c.11775+26T>G (n.11775+26T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543461T= | CA2335074358 | RYR1 | c.188+26T= c.170+26T= c.11778+26T= (n.11778+26T=) c.11763+26T= (n.11763+26T=) c.11760+26T= (n.11760+26T=) c.387+26T= c.5147+26T= c.11745+26T= (n.11745+26T=) c.11775+26T= (n.11775+26T=) | |
| 19 | g.38543462G>A | CA633066757 | RYR1 | c.188+27G>A c.170+27G>A c.11778+27G>A (n.11778+27G>A) c.11763+27G>A (n.11763+27G>A) c.11760+27G>A (n.11760+27G>A) c.387+27G>A c.5147+27G>A c.11745+27G>A (n.11745+27G>A) c.11775+27G>A (n.11775+27G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543462G= | CA2335074359 | RYR1 | c.188+27G= c.170+27G= c.11778+27G= (n.11778+27G=) c.11763+27G= (n.11763+27G=) c.11760+27G= (n.11760+27G=) c.387+27G= c.5147+27G= c.11745+27G= (n.11745+27G=) c.11775+27G= (n.11775+27G=) | |
| 19 | g.38543462G>T | CA2584908086 | RYR1 | c.188+27G>T c.170+27G>T c.11778+27G>T (n.11778+27G>T) c.11763+27G>T (n.11763+27G>T) c.11760+27G>T (n.11760+27G>T) c.387+27G>T c.5147+27G>T c.11745+27G>T (n.11745+27G>T) c.11775+27G>T (n.11775+27G>T) | gnomAD v4 |
| 19 | g.38543464C= | CA2335074360 | RYR1 | c.188+29C= c.170+29C= c.11778+29C= (n.11778+29C=) c.11763+29C= (n.11763+29C=) c.11760+29C= (n.11760+29C=) c.387+29C= c.5147+29C= c.11745+29C= (n.11745+29C=) c.11775+29C= (n.11775+29C=) | |
| 19 | g.38543464C>G | CA633066758 | RYR1 | c.188+29C>G c.170+29C>G c.11778+29C>G (n.11778+29C>G) c.11763+29C>G (n.11763+29C>G) c.11760+29C>G (n.11760+29C>G) c.387+29C>G c.5147+29C>G c.11745+29C>G (n.11745+29C>G) c.11775+29C>G (n.11775+29C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543464C>T | CA2584908087 | RYR1 | c.188+29C>T c.170+29C>T c.11778+29C>T (n.11778+29C>T) c.11763+29C>T (n.11763+29C>T) c.11760+29C>T (n.11760+29C>T) c.387+29C>T c.5147+29C>T c.11745+29C>T (n.11745+29C>T) c.11775+29C>T (n.11775+29C>T) | gnomAD v4 |
| 19 | g.38543466T>A | CA057614 | RYR1 | c.188+31T>A c.170+31T>A c.11778+31T>A (n.11778+31T>A) c.11763+31T>A (n.11763+31T>A) c.11760+31T>A (n.11760+31T>A) c.387+31T>A c.5147+31T>A c.11745+31T>A (n.11745+31T>A) c.11775+31T>A (n.11775+31T>A) | dbSNP ExAC gnomAD v2 |
| 19 | g.38543466T= | CA2335074361 | RYR1 | c.188+31T= c.170+31T= c.11778+31T= (n.11778+31T=) c.11763+31T= (n.11763+31T=) c.11760+31T= (n.11760+31T=) c.387+31T= c.5147+31T= c.11745+31T= (n.11745+31T=) c.11775+31T= (n.11775+31T=) | |
| 19 | g.38543466_38543467insTTTACTACTGTATCCCCAGAGCCTAGAATACTGCATGACACATAGTAAGAACGCAACAAATTTGTTGTA | CA2584908088 | RYR1 | c.188+31_188+32insTTTACTACTGTATCCCCAGAGCCTAGAATACTGCATGACACATAGTAAGAACGCAACAAATTTGTTGTA c.170+31_170+32insTTTACTACTGTATCCCCAGAGCCTAGAATACTGCATGACACATAGTAAGAACGCAACAAATTTGTTGTA c.11778+31_11778+32insTTTACTACTGTATCCCCAGAGCCTAGAATACTGCATGACACATAGTAAGAACGCAACAAATTTGTTGTA (n.11778+31_11778+32insTTTACTACTGTATCCCCAGAGCCTAGAATACTGCATGACACATAGTAAGAACGCAACAAATTTGTTGTA) c.11763+31_11763+32insTTTACTACTGTATCCCCAGAGCCTAGAATACTGCATGACACATAGTAAGAACGCAACAAATTTGTTGTA (n.11763+31_11763+32insTTTACTACTGTATCCCCAGAGCCTAGAATACTGCATGACACATAGTAAGAACGCAACAAATTTGTTGTA) c.11760+31_11760+32insTTTACTACTGTATCCCCAGAGCCTAGAATACTGCATGACACATAGTAAGAACGCAACAAATTTGTTGTA (n.11760+31_11760+32insTTTACTACTGTATCCCCAGAGCCTAGAATACTGCATGACACATAGTAAGAACGCAACAAATTTGTTGTA) c.387+31_387+32insTTTACTACTGTATCCCCAGAGCCTAGAATACTGCATGACACATAGTAAGAACGCAACAAATTTGTTGTA c.5147+31_5147+32insTTTACTACTGTATCCCCAGAGCCTAGAATACTGCATGACACATAGTAAGAACGCAACAAATTTGTTGTA c.11745+31_11745+32insTTTACTACTGTATCCCCAGAGCCTAGAATACTGCATGACACATAGTAAGAACGCAACAAATTTGTTGTA (n.11745+31_11745+32insTTTACTACTGTATCCCCAGAGCCTAGAATACTGCATGACACATAGTAAGAACGCAACAAATTTGTTGTA) c.11775+31_11775+32insTTTACTACTGTATCCCCAGAGCCTAGAATACTGCATGACACATAGTAAGAACGCAACAAATTTGTTGTA (n.11775+31_11775+32insTTTACTACTGTATCCCCAGAGCCTAGAATACTGCATGACACATAGTAAGAACGCAACAAATTTGTTGTA) | gnomAD v4 |
| 19 | g.38543467G>A | CA057620 | RYR1 | c.188+32G>A c.170+32G>A c.11778+32G>A (n.11778+32G>A) c.11763+32G>A (n.11763+32G>A) c.11760+32G>A (n.11760+32G>A) c.387+32G>A c.5147+32G>A c.11745+32G>A (n.11745+32G>A) c.11775+32G>A (n.11775+32G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38543467G= | CA2335074362 | RYR1 | c.188+32G= c.170+32G= c.11778+32G= (n.11778+32G=) c.11763+32G= (n.11763+32G=) c.11760+32G= (n.11760+32G=) c.387+32G= c.5147+32G= c.11745+32G= (n.11745+32G=) c.11775+32G= (n.11775+32G=) | |
| 19 | g.38543469del | CA2584908089 | RYR1 | c.188+34del c.170+34del c.11778+34del (n.11778+34del) c.11763+34del (n.11763+34del) c.11760+34del (n.11760+34del) c.387+34del c.5147+34del c.11745+34del (n.11745+34del) c.11775+34del (n.11775+34del) | gnomAD v4 |
| 19 | g.38543469G>A | CA2584908090 | RYR1 | c.188+34G>A c.170+34G>A c.11778+34G>A (n.11778+34G>A) c.11763+34G>A (n.11763+34G>A) c.11760+34G>A (n.11760+34G>A) c.387+34G>A c.5147+34G>A c.11745+34G>A (n.11745+34G>A) c.11775+34G>A (n.11775+34G>A) | gnomAD v4 |
| 19 | g.38543470T>C | CA882060589 | RYR1 | c.188+35T>C c.170+35T>C c.11778+35T>C (n.11778+35T>C) c.11763+35T>C (n.11763+35T>C) c.11760+35T>C (n.11760+35T>C) c.387+35T>C c.5147+35T>C c.11745+35T>C (n.11745+35T>C) c.11775+35T>C (n.11775+35T>C) | dbSNP |
| 19 | g.38543470T>G | CA057624 | RYR1 | c.188+35T>G c.170+35T>G c.11778+35T>G (n.11778+35T>G) c.11763+35T>G (n.11763+35T>G) c.11760+35T>G (n.11760+35T>G) c.387+35T>G c.5147+35T>G c.11745+35T>G (n.11745+35T>G) c.11775+35T>G (n.11775+35T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543470T= | CA2335074363 | RYR1 | c.188+35T= c.170+35T= c.11778+35T= (n.11778+35T=) c.11763+35T= (n.11763+35T=) c.11760+35T= (n.11760+35T=) c.387+35T= c.5147+35T= c.11745+35T= (n.11745+35T=) c.11775+35T= (n.11775+35T=) | |
| 19 | g.38543471C>A | CA2535606662 | RYR1 | c.188+36C>A c.170+36C>A c.11778+36C>A (n.11778+36C>A) c.11763+36C>A (n.11763+36C>A) c.11760+36C>A (n.11760+36C>A) c.387+36C>A c.5147+36C>A c.11745+36C>A (n.11745+36C>A) c.11775+36C>A (n.11775+36C>A) | |
| 19 | g.38543471C= | CA2335074364 | RYR1 | c.188+36C= c.170+36C= c.11778+36C= (n.11778+36C=) c.11763+36C= (n.11763+36C=) c.11760+36C= (n.11760+36C=) c.387+36C= c.5147+36C= c.11745+36C= (n.11745+36C=) c.11775+36C= (n.11775+36C=) | |
| 19 | g.38543471C>G | CA2814346149 | RYR1 | c.188+36C>G c.170+36C>G c.11778+36C>G (n.11778+36C>G) c.11763+36C>G (n.11763+36C>G) c.11760+36C>G (n.11760+36C>G) c.387+36C>G c.5147+36C>G c.11745+36C>G (n.11745+36C>G) c.11775+36C>G (n.11775+36C>G) | |
| 19 | g.38543471C>T | CA057628 | RYR1 | c.188+36C>T c.170+36C>T c.11778+36C>T (n.11778+36C>T) c.11763+36C>T (n.11763+36C>T) c.11760+36C>T (n.11760+36C>T) c.387+36C>T c.5147+36C>T c.11745+36C>T (n.11745+36C>T) c.11775+36C>T (n.11775+36C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543472G>A | CA057633 | RYR1 | c.188+37G>A c.170+37G>A c.11778+37G>A (n.11778+37G>A) c.11763+37G>A (n.11763+37G>A) c.11760+37G>A (n.11760+37G>A) c.387+37G>A c.5147+37G>A c.11745+37G>A (n.11745+37G>A) c.11775+37G>A (n.11775+37G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38543472G= | CA2335074365 | RYR1 | c.188+37G= c.170+37G= c.11778+37G= (n.11778+37G=) c.11763+37G= (n.11763+37G=) c.11760+37G= (n.11760+37G=) c.387+37G= c.5147+37G= c.11745+37G= (n.11745+37G=) c.11775+37G= (n.11775+37G=) | |
| 19 | g.38543473G>A | CA2335074366 | RYR1 | c.188+38G>A c.170+38G>A c.11778+38G>A (n.11778+38G>A) c.11763+38G>A (n.11763+38G>A) c.11760+38G>A (n.11760+38G>A) c.387+38G>A c.5147+38G>A c.11745+38G>A (n.11745+38G>A) c.11775+38G>A (n.11775+38G>A) | dbSNP |
| 19 | g.38543473G= | CA2335074367 | RYR1 | c.188+38G= c.170+38G= c.11778+38G= (n.11778+38G=) c.11763+38G= (n.11763+38G=) c.11760+38G= (n.11760+38G=) c.387+38G= c.5147+38G= c.11745+38G= (n.11745+38G=) c.11775+38G= (n.11775+38G=) | |
| 19 | g.38543474G>A | CA995728741 | RYR1 | c.188+39G>A c.170+39G>A c.11778+39G>A (n.11778+39G>A) c.11763+39G>A (n.11763+39G>A) c.11760+39G>A (n.11760+39G>A) c.387+39G>A c.5147+39G>A c.11745+39G>A (n.11745+39G>A) c.11775+39G>A (n.11775+39G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38543474G= | CA2335074368 | RYR1 | c.188+39G= c.170+39G= c.11778+39G= (n.11778+39G=) c.11763+39G= (n.11763+39G=) c.11760+39G= (n.11760+39G=) c.387+39G= c.5147+39G= c.11745+39G= (n.11745+39G=) c.11775+39G= (n.11775+39G=) | |
| 19 | g.38543474G>T | CA2576804830 | RYR1 | c.188+39G>T c.170+39G>T c.11778+39G>T (n.11778+39G>T) c.11763+39G>T (n.11763+39G>T) c.11760+39G>T (n.11760+39G>T) c.387+39G>T c.5147+39G>T c.11745+39G>T (n.11745+39G>T) c.11775+39G>T (n.11775+39G>T) | |
| 19 | g.38543476G>A | CA2584908091 | RYR1 | c.188+41G>A c.170+41G>A c.11778+41G>A (n.11778+41G>A) c.11763+41G>A (n.11763+41G>A) c.11760+41G>A (n.11760+41G>A) c.387+41G>A c.5147+41G>A c.11745+41G>A (n.11745+41G>A) c.11775+41G>A (n.11775+41G>A) | gnomAD v4 |
| 19 | g.38543476G= | CA2335074369 | RYR1 | c.188+41G= c.170+41G= c.11778+41G= (n.11778+41G=) c.11763+41G= (n.11763+41G=) c.11760+41G= (n.11760+41G=) c.387+41G= c.5147+41G= c.11745+41G= (n.11745+41G=) c.11775+41G= (n.11775+41G=) | |
| 19 | g.38543476G>T | CA2335074370 | RYR1 | c.188+41G>T c.170+41G>T c.11778+41G>T (n.11778+41G>T) c.11763+41G>T (n.11763+41G>T) c.11760+41G>T (n.11760+41G>T) c.387+41G>T c.5147+41G>T c.11745+41G>T (n.11745+41G>T) c.11775+41G>T (n.11775+41G>T) | dbSNP |
| 19 | g.38543479G>A | CA633066759 | RYR1 | c.188+44G>A c.170+44G>A c.11778+44G>A (n.11778+44G>A) c.11763+44G>A (n.11763+44G>A) c.11760+44G>A (n.11760+44G>A) c.387+44G>A c.5147+44G>A c.11745+44G>A (n.11745+44G>A) c.11775+44G>A (n.11775+44G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543479G= | CA2335074371 | RYR1 | c.188+44G= c.170+44G= c.11778+44G= (n.11778+44G=) c.11763+44G= (n.11763+44G=) c.11760+44G= (n.11760+44G=) c.387+44G= c.5147+44G= c.11745+44G= (n.11745+44G=) c.11775+44G= (n.11775+44G=) | |
| 19 | g.38543479_38543480insGAGACGTCTGAGTTAAAGCATCTAACTCTGGGGTTTTGTGAGGGGTA | CA2741629738 | RYR1 | c.188+44_188+45insGAGACGTCTGAGTTAAAGCATCTAACTCTGGGGTTTTGTGAGGGGTA c.170+44_170+45insGAGACGTCTGAGTTAAAGCATCTAACTCTGGGGTTTTGTGAGGGGTA c.11778+44_11778+45insGAGACGTCTGAGTTAAAGCATCTAACTCTGGGGTTTTGTGAGGGGTA (n.11778+44_11778+45insGAGACGTCTGAGTTAAAGCATCTAACTCTGGGGTTTTGTGAGGGGTA) c.11763+44_11763+45insGAGACGTCTGAGTTAAAGCATCTAACTCTGGGGTTTTGTGAGGGGTA (n.11763+44_11763+45insGAGACGTCTGAGTTAAAGCATCTAACTCTGGGGTTTTGTGAGGGGTA) c.11760+44_11760+45insGAGACGTCTGAGTTAAAGCATCTAACTCTGGGGTTTTGTGAGGGGTA (n.11760+44_11760+45insGAGACGTCTGAGTTAAAGCATCTAACTCTGGGGTTTTGTGAGGGGTA) c.387+44_387+45insGAGACGTCTGAGTTAAAGCATCTAACTCTGGGGTTTTGTGAGGGGTA c.5147+44_5147+45insGAGACGTCTGAGTTAAAGCATCTAACTCTGGGGTTTTGTGAGGGGTA c.11745+44_11745+45insGAGACGTCTGAGTTAAAGCATCTAACTCTGGGGTTTTGTGAGGGGTA (n.11745+44_11745+45insGAGACGTCTGAGTTAAAGCATCTAACTCTGGGGTTTTGTGAGGGGTA) c.11775+44_11775+45insGAGACGTCTGAGTTAAAGCATCTAACTCTGGGGTTTTGTGAGGGGTA (n.11775+44_11775+45insGAGACGTCTGAGTTAAAGCATCTAACTCTGGGGTTTTGTGAGGGGTA) | |
| 19 | g.38543481A>G | CA2576804831 | RYR1 | c.188+46A>G c.170+46A>G c.11778+46A>G (n.11778+46A>G) c.11763+46A>G (n.11763+46A>G) c.11760+46A>G (n.11760+46A>G) c.387+46A>G c.5147+46A>G c.11745+46A>G (n.11745+46A>G) c.11775+46A>G (n.11775+46A>G) | gnomAD v4 |