| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38580004A= | CA2335092255 | RYR1 | c.1323A= c.2720A= c.2692A= c.14387A= (p.Tyr4796=) c.14372A= (p.Tyr4791=) c.14369A= (p.Tyr4790=) c.14354A= (p.Tyr4785=) c.14384A= (p.Tyr4795=) c.14300A= (p.Tyr4767=) | |
| 19 | g.38580004A>C | CA405686885 | RYR1 | c.1323A>C c.2720A>C c.2692A>C c.14387A>C (p.Tyr4796Ser) c.14372A>C (p.Tyr4791Ser) c.14369A>C (p.Tyr4790Ser) c.14354A>C (p.Tyr4785Ser) c.14384A>C (p.Tyr4795Ser) c.14300A>C (p.Tyr4767Ser) | |
| 19 | g.38580004A>G | CA024131 | RYR1 | c.1323A>G c.2720A>G c.2692A>G c.14387A>G (p.Tyr4796Cys) c.14372A>G (p.Tyr4791Cys) c.14369A>G (p.Tyr4790Cys) c.14354A>G (p.Tyr4785Cys) c.14384A>G (p.Tyr4795Cys) c.14300A>G (p.Tyr4767Cys) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38580004A>T | CA405686890 | RYR1 | c.1323A>T c.2720A>T c.2692A>T c.14387A>T (p.Tyr4796Phe) c.14372A>T (p.Tyr4791Phe) c.14369A>T (p.Tyr4790Phe) c.14354A>T (p.Tyr4785Phe) c.14384A>T (p.Tyr4795Phe) c.14300A>T (p.Tyr4767Phe) | |
| 19 | g.38580005T>A | CA405686893 | RYR1 | c.1324T>A c.2721T>A c.2693T>A c.14388T>A (p.Tyr4796Ter) c.14373T>A (p.Tyr4791Ter) c.14370T>A (p.Tyr4790Ter) c.14355T>A (p.Tyr4785Ter) c.14385T>A (p.Tyr4795Ter) c.14301T>A (p.Tyr4767Ter) | |
| 19 | g.38580005T>C | CA507246071 | RYR1 | c.1324T>C c.2721T>C c.2693T>C c.14388T>C (p.Tyr4796=) c.14373T>C (p.Tyr4791=) c.14370T>C (p.Tyr4790=) c.14355T>C (p.Tyr4785=) c.14385T>C (p.Tyr4795=) c.14301T>C (p.Tyr4767=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38580005T>G | CA405686895 | RYR1 | c.1324T>G c.2721T>G c.2693T>G c.14388T>G (p.Tyr4796Ter) c.14373T>G (p.Tyr4791Ter) c.14370T>G (p.Tyr4790Ter) c.14355T>G (p.Tyr4785Ter) c.14385T>G (p.Tyr4795Ter) c.14301T>G (p.Tyr4767Ter) | |
| 19 | g.38580005T= | CA2335092256 | RYR1 | c.1324T= c.2721T= c.2693T= c.14388T= (p.Tyr4796=) c.14373T= (p.Tyr4791=) c.14370T= (p.Tyr4790=) c.14355T= (p.Tyr4785=) c.14385T= (p.Tyr4795=) c.14301T= (p.Tyr4767=) | |
| 19 | g.38580006A>C | CA405686898 | RYR1 | c.1325A>C c.2722A>C c.2694A>C c.14389A>C (p.Met4797Leu) c.14374A>C (p.Met4792Leu) c.14371A>C (p.Met4791Leu) c.14356A>C (p.Met4786Leu) c.14386A>C (p.Met4796Leu) c.14302A>C (p.Met4768Leu) | |
| 19 | g.38580006A>G | CA405686900 | RYR1 | c.1325A>G c.2722A>G c.2694A>G c.14389A>G (p.Met4797Val) c.14374A>G (p.Met4792Val) c.14371A>G (p.Met4791Val) c.14356A>G (p.Met4786Val) c.14386A>G (p.Met4796Val) c.14302A>G (p.Met4768Val) | |
| 19 | g.38580006A>T | CA405686903 | RYR1 | c.1325A>T c.2722A>T c.2694A>T c.14389A>T (p.Met4797Leu) c.14374A>T (p.Met4792Leu) c.14371A>T (p.Met4791Leu) c.14356A>T (p.Met4786Leu) c.14386A>T (p.Met4796Leu) c.14302A>T (p.Met4768Leu) | |
| 19 | g.38580007T>A | CA405686906 | RYR1 | c.1326T>A c.2723T>A c.2695T>A c.14390T>A (p.Met4797Lys) c.14375T>A (p.Met4792Lys) c.14372T>A (p.Met4791Lys) c.14357T>A (p.Met4786Lys) c.14387T>A (p.Met4796Lys) c.14303T>A (p.Met4768Lys) | |
| 19 | g.38580007T>C | CA308121518 | RYR1 | c.1326T>C c.2723T>C c.2695T>C c.14390T>C (p.Met4797Thr) c.14375T>C (p.Met4792Thr) c.14372T>C (p.Met4791Thr) c.14357T>C (p.Met4786Thr) c.14387T>C (p.Met4796Thr) c.14303T>C (p.Met4768Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38580007T>G | CA405686909 | RYR1 | c.1326T>G c.2723T>G c.2695T>G c.14390T>G (p.Met4797Arg) c.14375T>G (p.Met4792Arg) c.14372T>G (p.Met4791Arg) c.14357T>G (p.Met4786Arg) c.14387T>G (p.Met4796Arg) c.14303T>G (p.Met4768Arg) | |
| 19 | g.38580007T= | CA2335092257 | RYR1 | c.1326T= c.2723T= c.2695T= c.14390T= (p.Met4797=) c.14375T= (p.Met4792=) c.14372T= (p.Met4791=) c.14357T= (p.Met4786=) c.14387T= (p.Met4796=) c.14303T= (p.Met4768=) | |
| 19 | g.38580008G>A | CA405686912 | RYR1 | c.1327G>A c.2724G>A c.2696G>A c.14391G>A (p.Met4797Ile) c.14376G>A (p.Met4792Ile) c.14373G>A (p.Met4791Ile) c.14358G>A (p.Met4786Ile) c.14388G>A (p.Met4796Ile) c.14304G>A (p.Met4768Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38580008G>C | CA405686917 | RYR1 | c.1327G>C c.2724G>C c.2696G>C c.14391G>C (p.Met4797Ile) c.14376G>C (p.Met4792Ile) c.14373G>C (p.Met4791Ile) c.14358G>C (p.Met4786Ile) c.14388G>C (p.Met4796Ile) c.14304G>C (p.Met4768Ile) | |
| 19 | g.38580008G= | CA2335092258 | RYR1 | c.1327G= c.2724G= c.2696G= c.14391G= (p.Met4797=) c.14376G= (p.Met4792=) c.14373G= (p.Met4791=) c.14358G= (p.Met4786=) c.14388G= (p.Met4796=) c.14304G= (p.Met4768=) | |
| 19 | g.38580008G>T | CA405686914 | RYR1 | c.1327G>T c.2724G>T c.2696G>T c.14391G>T (p.Met4797Ile) c.14376G>T (p.Met4792Ile) c.14373G>T (p.Met4791Ile) c.14358G>T (p.Met4786Ile) c.14388G>T (p.Met4796Ile) c.14304G>T (p.Met4768Ile) | |
| 19 | g.38580009dup | CA658658813 | RYR1 | c.1328dup c.2725dup c.2697dup c.14392dup (p.Val4798GlyfsTer?) c.14377dup (p.Val4793GlyfsTer?) c.14374dup (p.Val4792GlyfsTer?) c.14359dup (p.Val4787GlyfsTer?) c.14389dup (p.Val4797GlyfsTer?) c.14305dup (p.Val4769GlyfsTer?) | ClinVar dbSNP |
| 19 | g.38580009G>A | CA405686919 | RYR1 | c.1328G>A c.2725G>A c.2697G>A c.14392G>A (p.Val4798Met) c.14377G>A (p.Val4793Met) c.14374G>A (p.Val4792Met) c.14359G>A (p.Val4787Met) c.14389G>A (p.Val4797Met) c.14305G>A (p.Val4769Met) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38580009G>C | CA405686924 | RYR1 | c.1328G>C c.2725G>C c.2697G>C c.14392G>C (p.Val4798Leu) c.14377G>C (p.Val4793Leu) c.14374G>C (p.Val4792Leu) c.14359G>C (p.Val4787Leu) c.14389G>C (p.Val4797Leu) c.14305G>C (p.Val4769Leu) | |
| 19 | g.38580009G= | CA2335092259 | RYR1 | c.1328G= c.2725G= c.2697G= c.14392G= (p.Val4798=) c.14377G= (p.Val4793=) c.14374G= (p.Val4792=) c.14359G= (p.Val4787=) c.14389G= (p.Val4797=) c.14305G= (p.Val4769=) | |
| 19 | g.38580009G>T | CA405686926 | RYR1 | c.1328G>T c.2725G>T c.2697G>T c.14392G>T (p.Val4798Leu) c.14377G>T (p.Val4793Leu) c.14374G>T (p.Val4792Leu) c.14359G>T (p.Val4787Leu) c.14389G>T (p.Val4797Leu) c.14305G>T (p.Val4769Leu) | |
| 19 | g.38580010T>A | CA405686928 | RYR1 | c.1329T>A c.2726T>A c.2698T>A c.14393T>A (p.Val4798Glu) c.14378T>A (p.Val4793Glu) c.14375T>A (p.Val4792Glu) c.14360T>A (p.Val4787Glu) c.14390T>A (p.Val4797Glu) c.14306T>A (p.Val4769Glu) | |
| 19 | g.38580010T>C | CA061211 | RYR1 | c.1329T>C c.2726T>C c.2698T>C c.14393T>C (p.Val4798Ala) c.14378T>C (p.Val4793Ala) c.14375T>C (p.Val4792Ala) c.14360T>C (p.Val4787Ala) c.14390T>C (p.Val4797Ala) c.14306T>C (p.Val4769Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38580010T>G | CA405686932 | RYR1 | c.1329T>G c.2726T>G c.2698T>G c.14393T>G (p.Val4798Gly) c.14378T>G (p.Val4793Gly) c.14375T>G (p.Val4792Gly) c.14360T>G (p.Val4787Gly) c.14390T>G (p.Val4797Gly) c.14306T>G (p.Val4769Gly) | |
| 19 | g.38580010T= | CA2335092260 | RYR1 | c.1329T= c.2726T= c.2698T= c.14393T= (p.Val4798=) c.14378T= (p.Val4793=) c.14375T= (p.Val4792=) c.14360T= (p.Val4787=) c.14390T= (p.Val4797=) c.14306T= (p.Val4769=) | |
| 19 | g.38580011G>A | CA308121534 | RYR1 | c.1330G>A c.2727G>A c.2699G>A c.14394G>A (p.Val4798=) c.14379G>A (p.Val4793=) c.14376G>A (p.Val4792=) c.14361G>A (p.Val4787=) c.14391G>A (p.Val4797=) c.14307G>A (p.Val4769=) | dbSNP |
| 19 | g.38580011G>C | CA507246072 | RYR1 | c.1330G>C c.2727G>C c.2699G>C c.14394G>C (p.Val4798=) c.14379G>C (p.Val4793=) c.14376G>C (p.Val4792=) c.14361G>C (p.Val4787=) c.14391G>C (p.Val4797=) c.14307G>C (p.Val4769=) | |
| 19 | g.38580011G= | CA2335092261 | RYR1 | c.1330G= c.2727G= c.2699G= c.14394G= (p.Val4798=) c.14379G= (p.Val4793=) c.14376G= (p.Val4792=) c.14361G= (p.Val4787=) c.14391G= (p.Val4797=) c.14307G= (p.Val4769=) | |
| 19 | g.38580011G>T | CA507246073 | RYR1 | c.1330G>T c.2727G>T c.2699G>T c.14394G>T (p.Val4798=) c.14379G>T (p.Val4793=) c.14376G>T (p.Val4792=) c.14361G>T (p.Val4787=) c.14391G>T (p.Val4797=) c.14307G>T (p.Val4769=) | |
| 19 | g.38580012A>C | CA405686934 | RYR1 | c.1331A>C c.2728A>C c.2700A>C c.14395A>C (p.Met4799Leu) c.14380A>C (p.Met4794Leu) c.14377A>C (p.Met4793Leu) c.14362A>C (p.Met4788Leu) c.14392A>C (p.Met4798Leu) c.14308A>C (p.Met4770Leu) | |
| 19 | g.38580012A>G | CA405686936 | RYR1 | c.1331A>G c.2728A>G c.2700A>G c.14395A>G (p.Met4799Val) c.14380A>G (p.Met4794Val) c.14377A>G (p.Met4793Val) c.14362A>G (p.Met4788Val) c.14392A>G (p.Met4798Val) c.14308A>G (p.Met4770Val) | |
| 19 | g.38580012A>T | CA405686938 | RYR1 | c.1331A>T c.2728A>T c.2700A>T c.14395A>T (p.Met4799Leu) c.14380A>T (p.Met4794Leu) c.14377A>T (p.Met4793Leu) c.14362A>T (p.Met4788Leu) c.14392A>T (p.Met4798Leu) c.14308A>T (p.Met4770Leu) | |
| 19 | g.38580013T>A | CA405686941 | RYR1 | c.1332T>A c.2729T>A c.2701T>A c.14396T>A (p.Met4799Lys) c.14381T>A (p.Met4794Lys) c.14378T>A (p.Met4793Lys) c.14363T>A (p.Met4788Lys) c.14393T>A (p.Met4798Lys) c.14309T>A (p.Met4770Lys) | |
| 19 | g.38580013T>C | CA081221 | RYR1 | c.1332T>C c.2729T>C c.2701T>C c.14396T>C (p.Met4799Thr) c.14381T>C (p.Met4794Thr) c.14378T>C (p.Met4793Thr) c.14363T>C (p.Met4788Thr) c.14393T>C (p.Met4798Thr) c.14309T>C (p.Met4770Thr) | dbSNP |
| 19 | g.38580013T>G | CA405686943 | RYR1 | c.1332T>G c.2729T>G c.2701T>G c.14396T>G (p.Met4799Arg) c.14381T>G (p.Met4794Arg) c.14378T>G (p.Met4793Arg) c.14363T>G (p.Met4788Arg) c.14393T>G (p.Met4798Arg) c.14309T>G (p.Met4770Arg) | |
| 19 | g.38580013T= | CA2335092262 | RYR1 | c.1332T= c.2729T= c.2701T= c.14396T= (p.Met4799=) c.14381T= (p.Met4794=) c.14378T= (p.Met4793=) c.14363T= (p.Met4788=) c.14393T= (p.Met4798=) c.14309T= (p.Met4770=) | |
| 19 | g.38580014G>A | CA405686950 | RYR1 | c.1333G>A c.2730G>A c.2702G>A c.14397G>A (p.Met4799Ile) c.14382G>A (p.Met4794Ile) c.14379G>A (p.Met4793Ile) c.14364G>A (p.Met4788Ile) c.14394G>A (p.Met4798Ile) c.14310G>A (p.Met4770Ile) | gnomAD v4 |
| 19 | g.38580014G>C | CA405686945 | RYR1 | c.1333G>C c.2730G>C c.2702G>C c.14397G>C (p.Met4799Ile) c.14382G>C (p.Met4794Ile) c.14379G>C (p.Met4793Ile) c.14364G>C (p.Met4788Ile) c.14394G>C (p.Met4798Ile) c.14310G>C (p.Met4770Ile) | |
| 19 | g.38580014G>T | CA405686947 | RYR1 | c.1333G>T c.2730G>T c.2702G>T c.14397G>T (p.Met4799Ile) c.14382G>T (p.Met4794Ile) c.14379G>T (p.Met4793Ile) c.14364G>T (p.Met4788Ile) c.14394G>T (p.Met4798Ile) c.14310G>T (p.Met4770Ile) | |
| 19 | g.38580015T>A | CA405686952 | RYR1 | c.1334T>A c.2731T>A c.2703T>A c.14398T>A (p.Ser4800Thr) c.14383T>A (p.Ser4795Thr) c.14380T>A (p.Ser4794Thr) c.14365T>A (p.Ser4789Thr) c.14395T>A (p.Ser4799Thr) c.14311T>A (p.Ser4771Thr) | |
| 19 | g.38580015T>C | CA405686953 | RYR1 | c.1334T>C c.2731T>C c.2703T>C c.14398T>C (p.Ser4800Pro) c.14383T>C (p.Ser4795Pro) c.14380T>C (p.Ser4794Pro) c.14365T>C (p.Ser4789Pro) c.14395T>C (p.Ser4799Pro) c.14311T>C (p.Ser4771Pro) | |
| 19 | g.38580015T>G | CA405686954 | RYR1 | c.1334T>G c.2731T>G c.2703T>G c.14398T>G (p.Ser4800Ala) c.14383T>G (p.Ser4795Ala) c.14380T>G (p.Ser4794Ala) c.14365T>G (p.Ser4789Ala) c.14395T>G (p.Ser4799Ala) c.14311T>G (p.Ser4771Ala) | |
| 19 | g.38580016C>A | CA405686955 | RYR1 | c.1335C>A c.2732C>A c.2704C>A c.14399C>A (p.Ser4800Tyr) c.14384C>A (p.Ser4795Tyr) c.14381C>A (p.Ser4794Tyr) c.14366C>A (p.Ser4789Tyr) c.14396C>A (p.Ser4799Tyr) c.14312C>A (p.Ser4771Tyr) | |
| 19 | g.38580016C>G | CA405686956 | RYR1 | c.1335C>G c.2732C>G c.2704C>G c.14399C>G (p.Ser4800Cys) c.14384C>G (p.Ser4795Cys) c.14381C>G (p.Ser4794Cys) c.14366C>G (p.Ser4789Cys) c.14396C>G (p.Ser4799Cys) c.14312C>G (p.Ser4771Cys) | |
| 19 | g.38580016C>T | CA405686958 | RYR1 | c.1335C>T c.2732C>T c.2704C>T c.14399C>T (p.Ser4800Phe) c.14384C>T (p.Ser4795Phe) c.14381C>T (p.Ser4794Phe) c.14366C>T (p.Ser4789Phe) c.14396C>T (p.Ser4799Phe) c.14312C>T (p.Ser4771Phe) | ClinVar |
| 19 | g.38580017C>A | CA507355962 | RYR1 | c.1336C>A c.2733C>A c.2705C>A c.14400C>A (p.Ser4800=) c.14385C>A (p.Ser4795=) c.14382C>A (p.Ser4794=) c.14367C>A (p.Ser4789=) c.14397C>A (p.Ser4799=) c.14313C>A (p.Ser4771=) | |
| 19 | g.38580017C>G | CA507355963 | RYR1 | c.1336C>G c.2733C>G c.2705C>G c.14400C>G (p.Ser4800=) c.14385C>G (p.Ser4795=) c.14382C>G (p.Ser4794=) c.14367C>G (p.Ser4789=) c.14397C>G (p.Ser4799=) c.14313C>G (p.Ser4771=) |