| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 19 | g.38580017C>T | CA507355964 | RYR1 | c.1336C>T c.2733C>T c.2705C>T c.14400C>T (p.Ser4800=) c.14385C>T (p.Ser4795=) c.14382C>T (p.Ser4794=) c.14367C>T (p.Ser4789=) c.14397C>T (p.Ser4799=) c.14313C>T (p.Ser4771=) | COSMIC |
| 19 | g.38580018C>A | CA405686960 | RYR1 | c.1337C>A c.2734C>A c.2706C>A c.14401C>A (p.Leu4801Ile) c.14386C>A (p.Leu4796Ile) c.14383C>A (p.Leu4795Ile) c.14368C>A (p.Leu4790Ile) c.14398C>A (p.Leu4800Ile) c.14314C>A (p.Leu4772Ile) | |
| 19 | g.38580018C= | CA2335092263 | RYR1 | c.1337C= c.2734C= c.2706C= c.14401C= (p.Leu4801=) c.14386C= (p.Leu4796=) c.14383C= (p.Leu4795=) c.14368C= (p.Leu4790=) c.14398C= (p.Leu4800=) c.14314C= (p.Leu4772=) | |
| 19 | g.38580018C>G | CA405686962 | RYR1 | c.1337C>G c.2734C>G c.2706C>G c.14401C>G (p.Leu4801Val) c.14386C>G (p.Leu4796Val) c.14383C>G (p.Leu4795Val) c.14368C>G (p.Leu4790Val) c.14398C>G (p.Leu4800Val) c.14314C>G (p.Leu4772Val) | |
| 19 | g.38580018C>T | CA405686964 | RYR1 | c.1337C>T c.2734C>T c.2706C>T c.14401C>T (p.Leu4801Phe) c.14386C>T (p.Leu4796Phe) c.14383C>T (p.Leu4795Phe) c.14368C>T (p.Leu4790Phe) c.14398C>T (p.Leu4800Phe) c.14314C>T (p.Leu4772Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38580019T>A | CA405686965 | RYR1 | c.1338T>A c.2735T>A c.2707T>A c.14402T>A (p.Leu4801His) c.14387T>A (p.Leu4796His) c.14384T>A (p.Leu4795His) c.14369T>A (p.Leu4790His) c.14399T>A (p.Leu4800His) c.14315T>A (p.Leu4772His) | |
| 19 | g.38580019T>C | CA405686966 | RYR1 | c.1338T>C c.2735T>C c.2707T>C c.14402T>C (p.Leu4801Pro) c.14387T>C (p.Leu4796Pro) c.14384T>C (p.Leu4795Pro) c.14369T>C (p.Leu4790Pro) c.14399T>C (p.Leu4800Pro) c.14315T>C (p.Leu4772Pro) | gnomAD v4 |
| 19 | g.38580019T>G | CA405686968 | RYR1 | c.1338T>G c.2735T>G c.2707T>G c.14402T>G (p.Leu4801Arg) c.14387T>G (p.Leu4796Arg) c.14384T>G (p.Leu4795Arg) c.14369T>G (p.Leu4790Arg) c.14399T>G (p.Leu4800Arg) c.14315T>G (p.Leu4772Arg) | |
| 19 | g.38580020C>A | CA507355965 | RYR1 | c.1339C>A c.2736C>A c.2708C>A c.14403C>A (p.Leu4801=) c.14388C>A (p.Leu4796=) c.14385C>A (p.Leu4795=) c.14370C>A (p.Leu4790=) c.14400C>A (p.Leu4800=) c.14316C>A (p.Leu4772=) | gnomAD v4 |
| 19 | g.38580020C= | CA2335092264 | RYR1 | c.1339C= c.2736C= c.2708C= c.14403C= (p.Leu4801=) c.14388C= (p.Leu4796=) c.14385C= (p.Leu4795=) c.14370C= (p.Leu4790=) c.14400C= (p.Leu4800=) c.14316C= (p.Leu4772=) | |
| 19 | g.38580020C>G | CA507355966 | RYR1 | c.1339C>G c.2736C>G c.2708C>G c.14403C>G (p.Leu4801=) c.14388C>G (p.Leu4796=) c.14385C>G (p.Leu4795=) c.14370C>G (p.Leu4790=) c.14400C>G (p.Leu4800=) c.14316C>G (p.Leu4772=) | |
| 19 | g.38580020C>T | CA507355967 | RYR1 | c.1339C>T c.2736C>T c.2708C>T c.14403C>T (p.Leu4801=) c.14388C>T (p.Leu4796=) c.14385C>T (p.Leu4795=) c.14370C>T (p.Leu4790=) c.14400C>T (p.Leu4800=) c.14316C>T (p.Leu4772=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38580021T>A | CA405686969 | RYR1 | c.1340T>A c.2737T>A c.2709T>A c.14404T>A (p.Leu4802Met) c.14389T>A (p.Leu4797Met) c.14386T>A (p.Leu4796Met) c.14371T>A (p.Leu4791Met) c.14401T>A (p.Leu4801Met) c.14317T>A (p.Leu4773Met) | |
| 19 | g.38580021T>C | CA507355968 | RYR1 | c.1340T>C c.2737T>C c.2709T>C c.14404T>C (p.Leu4802=) c.14389T>C (p.Leu4797=) c.14386T>C (p.Leu4796=) c.14371T>C (p.Leu4791=) c.14401T>C (p.Leu4801=) c.14317T>C (p.Leu4773=) | |
| 19 | g.38580021T>G | CA405686970 | RYR1 | c.1340T>G c.2737T>G c.2709T>G c.14404T>G (p.Leu4802Val) c.14389T>G (p.Leu4797Val) c.14386T>G (p.Leu4796Val) c.14371T>G (p.Leu4791Val) c.14401T>G (p.Leu4801Val) c.14317T>G (p.Leu4773Val) | |
| 19 | g.38580022T>A | CA405686971 | RYR1 | c.1341T>A c.2738T>A c.2710T>A c.14405T>A (p.Leu4802Ter) c.14390T>A (p.Leu4797Ter) c.14387T>A (p.Leu4796Ter) c.14372T>A (p.Leu4791Ter) c.14402T>A (p.Leu4801Ter) c.14318T>A (p.Leu4773Ter) | |
| 19 | g.38580022T>C | CA405686974 | RYR1 | c.1341T>C c.2738T>C c.2710T>C c.14405T>C (p.Leu4802Ser) c.14390T>C (p.Leu4797Ser) c.14387T>C (p.Leu4796Ser) c.14372T>C (p.Leu4791Ser) c.14402T>C (p.Leu4801Ser) c.14318T>C (p.Leu4773Ser) | |
| 19 | g.38580022T>G | CA405686972 | RYR1 | c.1341T>G c.2738T>G c.2710T>G c.14405T>G (p.Leu4802Trp) c.14390T>G (p.Leu4797Trp) c.14387T>G (p.Leu4796Trp) c.14372T>G (p.Leu4791Trp) c.14402T>G (p.Leu4801Trp) c.14318T>G (p.Leu4773Trp) | |
| 19 | g.38580023G>A | CA507355969 | RYR1 | c.1342G>A c.2739G>A c.2711G>A c.14406G>A (p.Leu4802=) c.14391G>A (p.Leu4797=) c.14388G>A (p.Leu4796=) c.14373G>A (p.Leu4791=) c.14403G>A (p.Leu4801=) c.14319G>A (p.Leu4773=) | |
| 19 | g.38580023G>C | CA405686976 | RYR1 | c.1342G>C c.2739G>C c.2711G>C c.14406G>C (p.Leu4802Phe) c.14391G>C (p.Leu4797Phe) c.14388G>C (p.Leu4796Phe) c.14373G>C (p.Leu4791Phe) c.14403G>C (p.Leu4801Phe) c.14319G>C (p.Leu4773Phe) | |
| 19 | g.38580023G>T | CA405686977 | RYR1 | c.1342G>T c.2739G>T c.2711G>T c.14406G>T (p.Leu4802Phe) c.14391G>T (p.Leu4797Phe) c.14388G>T (p.Leu4796Phe) c.14373G>T (p.Leu4791Phe) c.14403G>T (p.Leu4801Phe) c.14319G>T (p.Leu4773Phe) | |
| 19 | g.38580024G>A | CA308121537 | RYR1 | c.1343G>A c.2740G>A c.2712G>A c.14407G>A (p.Gly4803Arg) c.14392G>A (p.Gly4798Arg) c.14389G>A (p.Gly4797Arg) c.14374G>A (p.Gly4792Arg) c.14404G>A (p.Gly4802Arg) c.14320G>A (p.Gly4774Arg) | dbSNP |
| 19 | g.38580024G>C | CA405686979 | RYR1 | c.1343G>C c.2740G>C c.2712G>C c.14407G>C (p.Gly4803Arg) c.14392G>C (p.Gly4798Arg) c.14389G>C (p.Gly4797Arg) c.14374G>C (p.Gly4792Arg) c.14404G>C (p.Gly4802Arg) c.14320G>C (p.Gly4774Arg) | |
| 19 | g.38580024G= | CA2335092265 | RYR1 | c.1343G= c.2740G= c.2712G= c.14407G= (p.Gly4803=) c.14392G= (p.Gly4798=) c.14389G= (p.Gly4797=) c.14374G= (p.Gly4792=) c.14404G= (p.Gly4802=) c.14320G= (p.Gly4774=) | |
| 19 | g.38580024G>T | CA405686981 | RYR1 | c.1343G>T c.2740G>T c.2712G>T c.14407G>T (p.Gly4803Ter) c.14392G>T (p.Gly4798Ter) c.14389G>T (p.Gly4797Ter) c.14374G>T (p.Gly4792Ter) c.14404G>T (p.Gly4802Ter) c.14320G>T (p.Gly4774Ter) | |
| 19 | g.38580025G>A | CA405686983 | RYR1 | c.1344G>A c.2741G>A c.2713G>A c.14408G>A (p.Gly4803Glu) c.14393G>A (p.Gly4798Glu) c.14390G>A (p.Gly4797Glu) c.14375G>A (p.Gly4792Glu) c.14405G>A (p.Gly4802Glu) c.14321G>A (p.Gly4774Glu) | |
| 19 | g.38580025G>C | CA405686986 | RYR1 | c.1344G>C c.2741G>C c.2713G>C c.14408G>C (p.Gly4803Ala) c.14393G>C (p.Gly4798Ala) c.14390G>C (p.Gly4797Ala) c.14375G>C (p.Gly4792Ala) c.14405G>C (p.Gly4802Ala) c.14321G>C (p.Gly4774Ala) | |
| 19 | g.38580025G>T | CA081197 | RYR1 | c.1344G>T c.2741G>T c.2713G>T c.14408G>T (p.Gly4803Val) c.14393G>T (p.Gly4798Val) c.14390G>T (p.Gly4797Val) c.14375G>T (p.Gly4792Val) c.14405G>T (p.Gly4802Val) c.14321G>T (p.Gly4774Val) | |
| 19 | g.38580026A= | CA2335092266 | RYR1 | c.1345A= c.2742A= c.2714A= c.14409A= (p.Gly4803=) c.14394A= (p.Gly4798=) c.14391A= (p.Gly4797=) c.14376A= (p.Gly4792=) c.14406A= (p.Gly4802=) c.14322A= (p.Gly4774=) | |
| 19 | g.38580026A>C | CA507355970 | RYR1 | c.1345A>C c.2742A>C c.2714A>C c.14409A>C (p.Gly4803=) c.14394A>C (p.Gly4798=) c.14391A>C (p.Gly4797=) c.14376A>C (p.Gly4792=) c.14406A>C (p.Gly4802=) c.14322A>C (p.Gly4774=) | |
| 19 | g.38580026A>G | CA507355971 | RYR1 | c.1345A>G c.2742A>G c.2714A>G c.14409A>G (p.Gly4803=) c.14394A>G (p.Gly4798=) c.14391A>G (p.Gly4797=) c.14376A>G (p.Gly4792=) c.14406A>G (p.Gly4802=) c.14322A>G (p.Gly4774=) | |
| 19 | g.38580026A>T | CA061214 | RYR1 | c.1345A>T c.2742A>T c.2714A>T c.14409A>T (p.Gly4803=) c.14394A>T (p.Gly4798=) c.14391A>T (p.Gly4797=) c.14376A>T (p.Gly4792=) c.14406A>T (p.Gly4802=) c.14322A>T (p.Gly4774=) | dbSNP ExAC gnomAD v2 |
| 19 | g.38580027C>A | CA405686990 | RYR1 | c.1346C>A c.2743C>A c.2715C>A c.14410C>A (p.His4804Asn) c.14395C>A (p.His4799Asn) c.14392C>A (p.His4798Asn) c.14377C>A (p.His4793Asn) c.14407C>A (p.His4803Asn) c.14323C>A (p.His4775Asn) | |
| 19 | g.38580027C= | CA2335092267 | RYR1 | c.1346C= c.2743C= c.2715C= c.14410C= (p.His4804=) c.14395C= (p.His4799=) c.14392C= (p.His4798=) c.14377C= (p.His4793=) c.14407C= (p.His4803=) c.14323C= (p.His4775=) | |
| 19 | g.38580027C>G | CA405686992 | RYR1 | c.1346C>G c.2743C>G c.2715C>G c.14410C>G (p.His4804Asp) c.14395C>G (p.His4799Asp) c.14392C>G (p.His4798Asp) c.14377C>G (p.His4793Asp) c.14407C>G (p.His4803Asp) c.14323C>G (p.His4775Asp) | |
| 19 | g.38580027C>T | CA024135 | RYR1 | c.1346C>T c.2743C>T c.2715C>T c.14410C>T (p.His4804Tyr) c.14395C>T (p.His4799Tyr) c.14392C>T (p.His4798Tyr) c.14377C>T (p.His4793Tyr) c.14407C>T (p.His4803Tyr) c.14323C>T (p.His4775Tyr) | ClinVar dbSNP |
| 19 | g.38580028A= | CA2335092268 | RYR1 | c.1347A= c.2744A= c.2716A= c.14411A= (p.His4804=) c.14396A= (p.His4799=) c.14393A= (p.His4798=) c.14378A= (p.His4793=) c.14408A= (p.His4803=) c.14324A= (p.His4775=) | |
| 19 | g.38580028A>C | CA405687001 | RYR1 | c.1347A>C c.2744A>C c.2716A>C c.14411A>C (p.His4804Pro) c.14396A>C (p.His4799Pro) c.14393A>C (p.His4798Pro) c.14378A>C (p.His4793Pro) c.14408A>C (p.His4803Pro) c.14324A>C (p.His4775Pro) | ClinVar dbSNP |
| 19 | g.38580028A>G | CA405686998 | RYR1 | c.1347A>G c.2744A>G c.2716A>G c.14411A>G (p.His4804Arg) c.14396A>G (p.His4799Arg) c.14393A>G (p.His4798Arg) c.14378A>G (p.His4793Arg) c.14408A>G (p.His4803Arg) c.14324A>G (p.His4775Arg) | ClinVar dbSNP |