UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 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 |
| 19 | g.38580028A>T | CA405686996 | RYR1 | c.1347A>T c.2744A>T c.2716A>T c.14411A>T (p.His4804Leu) c.14396A>T (p.His4799Leu) c.14393A>T (p.His4798Leu) c.14378A>T (p.His4793Leu) c.14408A>T (p.His4803Leu) c.14324A>T (p.His4775Leu) | |
| 19 | g.38580029C>A | CA405687003 | RYR1 | c.1348C>A c.2745C>A c.2717C>A c.14412C>A (p.His4804Gln) c.14397C>A (p.His4799Gln) c.14394C>A (p.His4798Gln) c.14379C>A (p.His4793Gln) c.14409C>A (p.His4803Gln) c.14325C>A (p.His4775Gln) | |
| 19 | g.38580029C>G | CA405687005 | RYR1 | c.1348C>G c.2745C>G c.2717C>G c.14412C>G (p.His4804Gln) c.14397C>G (p.His4799Gln) c.14394C>G (p.His4798Gln) c.14379C>G (p.His4793Gln) c.14409C>G (p.His4803Gln) c.14325C>G (p.His4775Gln) | gnomAD v4 |
| 19 | g.38580029C>T | CA507355975 | RYR1 | c.1348C>T c.2745C>T c.2717C>T c.14412C>T (p.His4804=) c.14397C>T (p.His4799=) c.14394C>T (p.His4798=) c.14379C>T (p.His4793=) c.14409C>T (p.His4803=) c.14325C>T (p.His4775=) | gnomAD v4 |
| 19 | g.38580030T>A | CA405687006 | RYR1 | c.1349T>A c.2746T>A c.2718T>A c.14413T>A (p.Tyr4805Asn) c.14398T>A (p.Tyr4800Asn) c.14395T>A (p.Tyr4799Asn) c.14380T>A (p.Tyr4794Asn) c.14410T>A (p.Tyr4804Asn) c.14326T>A (p.Tyr4776Asn) | |
| 19 | g.38580030T>C | CA405687008 | RYR1 | c.1349T>C c.2746T>C c.2718T>C c.14413T>C (p.Tyr4805His) c.14398T>C (p.Tyr4800His) c.14395T>C (p.Tyr4799His) c.14380T>C (p.Tyr4794His) c.14410T>C (p.Tyr4804His) c.14326T>C (p.Tyr4776His) | |
| 19 | g.38580030T>G | CA405687011 | RYR1 | c.1349T>G c.2746T>G c.2718T>G c.14413T>G (p.Tyr4805Asp) c.14398T>G (p.Tyr4800Asp) c.14395T>G (p.Tyr4799Asp) c.14380T>G (p.Tyr4794Asp) c.14410T>G (p.Tyr4804Asp) c.14326T>G (p.Tyr4776Asp) | |
| 19 | g.38580031A= | CA2335092269 | RYR1 | c.1350A= c.2747A= c.2719A= c.14414A= (p.Tyr4805=) c.14399A= (p.Tyr4800=) c.14396A= (p.Tyr4799=) c.14381A= (p.Tyr4794=) c.14411A= (p.Tyr4804=) c.14327A= (p.Tyr4776=) | |
| 19 | g.38580031A>C | CA405687013 | RYR1 | c.1350A>C c.2747A>C c.2719A>C c.14414A>C (p.Tyr4805Ser) c.14399A>C (p.Tyr4800Ser) c.14396A>C (p.Tyr4799Ser) c.14381A>C (p.Tyr4794Ser) c.14411A>C (p.Tyr4804Ser) c.14327A>C (p.Tyr4776Ser) | |
| 19 | g.38580031A>G | CA405687014 | RYR1 | c.1350A>G c.2747A>G c.2719A>G c.14414A>G (p.Tyr4805Cys) c.14399A>G (p.Tyr4800Cys) c.14396A>G (p.Tyr4799Cys) c.14381A>G (p.Tyr4794Cys) c.14411A>G (p.Tyr4804Cys) c.14327A>G (p.Tyr4776Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38580031A>T | CA405687015 | RYR1 | c.1350A>T c.2747A>T c.2719A>T c.14414A>T (p.Tyr4805Phe) c.14399A>T (p.Tyr4800Phe) c.14396A>T (p.Tyr4799Phe) c.14381A>T (p.Tyr4794Phe) c.14411A>T (p.Tyr4804Phe) c.14327A>T (p.Tyr4776Phe) | |
| 19 | g.38580036_38580038del | CA2580614897 | RYR1 | c.1355_1357del c.2752_2754del c.2724_2726del c.14419_14421del (p.Asn4807del) c.14404_14406del (p.Asn4802del) c.14401_14403del (p.Asn4801del) c.14386_14388del (p.Asn4796del) c.14416_14418del (p.Asn4806del) c.14332_14334del (p.Asn4778del) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38580032C>A | CA405687017 | RYR1 | c.1351C>A c.2748C>A c.2720C>A c.14415C>A (p.Tyr4805Ter) c.14400C>A (p.Tyr4800Ter) c.14397C>A (p.Tyr4799Ter) c.14382C>A (p.Tyr4794Ter) c.14412C>A (p.Tyr4804Ter) c.14328C>A (p.Tyr4776Ter) | |
| 19 | g.38580032C= | CA2335092270 | RYR1 | c.1351C= c.2748C= c.2720C= c.14415C= (p.Tyr4805=) c.14400C= (p.Tyr4800=) c.14397C= (p.Tyr4799=) c.14382C= (p.Tyr4794=) c.14412C= (p.Tyr4804=) c.14328C= (p.Tyr4776=) | |
| 19 | g.38580032C>G | CA405687020 | RYR1 | c.1351C>G c.2748C>G c.2720C>G c.14415C>G (p.Tyr4805Ter) c.14400C>G (p.Tyr4800Ter) c.14397C>G (p.Tyr4799Ter) c.14382C>G (p.Tyr4794Ter) c.14412C>G (p.Tyr4804Ter) c.14328C>G (p.Tyr4776Ter) | |
| 19 | g.38580032C>T | CA507355979 | RYR1 | c.1351C>T c.2748C>T c.2720C>T c.14415C>T (p.Tyr4805=) c.14400C>T (p.Tyr4800=) c.14397C>T (p.Tyr4799=) c.14382C>T (p.Tyr4794=) c.14412C>T (p.Tyr4804=) c.14328C>T (p.Tyr4776=) | dbSNP gnomAD v4 |
| 19 | g.38580033A= | CA2335092271 | RYR1 | c.1352A= c.2749A= c.2721A= c.14416A= (p.Asn4806=) c.14401A= (p.Asn4801=) c.14398A= (p.Asn4800=) c.14383A= (p.Asn4795=) c.14413A= (p.Asn4805=) c.14329A= (p.Asn4777=) | |
| 19 | g.38580033A>C | CA405687022 | RYR1 | c.1352A>C c.2749A>C c.2721A>C c.14416A>C (p.Asn4806His) c.14401A>C (p.Asn4801His) c.14398A>C (p.Asn4800His) c.14383A>C (p.Asn4795His) c.14413A>C (p.Asn4805His) c.14329A>C (p.Asn4777His) | |
| 19 | g.38580033A>G | CA10588687 | RYR1 | c.1352A>G c.2749A>G c.2721A>G c.14416A>G (p.Asn4806Asp) c.14401A>G (p.Asn4801Asp) c.14398A>G (p.Asn4800Asp) c.14383A>G (p.Asn4795Asp) c.14413A>G (p.Asn4805Asp) c.14329A>G (p.Asn4777Asp) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38580033A>T | CA405687023 | RYR1 | c.1352A>T c.2749A>T c.2721A>T c.14416A>T (p.Asn4806Tyr) c.14401A>T (p.Asn4801Tyr) c.14398A>T (p.Asn4800Tyr) c.14383A>T (p.Asn4795Tyr) c.14413A>T (p.Asn4805Tyr) c.14329A>T (p.Asn4777Tyr) | |
| 19 | g.38580034A>C | CA405687025 | RYR1 | c.1353A>C c.2750A>C c.2722A>C c.14417A>C (p.Asn4806Thr) c.14402A>C (p.Asn4801Thr) c.14399A>C (p.Asn4800Thr) c.14384A>C (p.Asn4795Thr) c.14414A>C (p.Asn4805Thr) c.14330A>C (p.Asn4777Thr) | |
| 19 | g.38580034A>G | CA405687026 | RYR1 | c.1353A>G c.2750A>G c.2722A>G c.14417A>G (p.Asn4806Ser) c.14402A>G (p.Asn4801Ser) c.14399A>G (p.Asn4800Ser) c.14384A>G (p.Asn4795Ser) c.14414A>G (p.Asn4805Ser) c.14330A>G (p.Asn4777Ser) | |
| 19 | g.38580034A>T | CA405687024 | RYR1 | c.1353A>T c.2750A>T c.2722A>T c.14417A>T (p.Asn4806Ile) c.14402A>T (p.Asn4801Ile) c.14399A>T (p.Asn4800Ile) c.14384A>T (p.Asn4795Ile) c.14414A>T (p.Asn4805Ile) c.14330A>T (p.Asn4777Ile) | |
| 19 | g.38580035C>A | CA405687027 | RYR1 | c.1354C>A c.2751C>A c.2723C>A c.14418C>A (p.Asn4806Lys) c.14403C>A (p.Asn4801Lys) c.14400C>A (p.Asn4800Lys) c.14385C>A (p.Asn4795Lys) c.14415C>A (p.Asn4805Lys) c.14331C>A (p.Asn4777Lys) | ClinVar dbSNP |
| 19 | g.38580035C= | CA2335092272 | RYR1 | c.1354C= c.2751C= c.2723C= c.14418C= (p.Asn4806=) c.14403C= (p.Asn4801=) c.14400C= (p.Asn4800=) c.14385C= (p.Asn4795=) c.14415C= (p.Asn4805=) c.14331C= (p.Asn4777=) | |
| 19 | g.38580035C>G | CA405687028 | RYR1 | c.1354C>G c.2751C>G c.2723C>G c.14418C>G (p.Asn4806Lys) c.14403C>G (p.Asn4801Lys) c.14400C>G (p.Asn4800Lys) c.14385C>G (p.Asn4795Lys) c.14415C>G (p.Asn4805Lys) c.14331C>G (p.Asn4777Lys) | |
| 19 | g.38580035C>T | CA061238 | RYR1 | c.1354C>T c.2751C>T c.2723C>T c.14418C>T (p.Asn4806=) c.14403C>T (p.Asn4801=) c.14400C>T (p.Asn4800=) c.14385C>T (p.Asn4795=) c.14415C>T (p.Asn4805=) c.14331C>T (p.Asn4777=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580036A= | CA2335092273 | RYR1 | c.1355A= c.2752A= c.2724A= c.14419A= (p.Asn4807=) c.14404A= (p.Asn4802=) c.14401A= (p.Asn4801=) c.14386A= (p.Asn4796=) c.14416A= (p.Asn4806=) c.14332A= (p.Asn4778=) | |
| 19 | g.38580036A>C | CA405687030 | RYR1 | c.1355A>C c.2752A>C c.2724A>C c.14419A>C (p.Asn4807His) c.14404A>C (p.Asn4802His) c.14401A>C (p.Asn4801His) c.14386A>C (p.Asn4796His) c.14416A>C (p.Asn4806His) c.14332A>C (p.Asn4778His) | |
| 19 | g.38580036A>G | CA405687031 | RYR1 | c.1355A>G c.2752A>G c.2724A>G c.14419A>G (p.Asn4807Asp) c.14404A>G (p.Asn4802Asp) c.14401A>G (p.Asn4801Asp) c.14386A>G (p.Asn4796Asp) c.14416A>G (p.Asn4806Asp) c.14332A>G (p.Asn4778Asp) | |
| 19 | g.38580036A>T | CA061252 | RYR1 | c.1355A>T c.2752A>T c.2724A>T c.14419A>T (p.Asn4807Tyr) c.14404A>T (p.Asn4802Tyr) c.14401A>T (p.Asn4801Tyr) c.14386A>T (p.Asn4796Tyr) c.14416A>T (p.Asn4806Tyr) c.14332A>T (p.Asn4778Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38580036_38580037delinsTT | CA2695228676 | RYR1 | c.1355_1356delinsTT c.2752_2753delinsTT c.2724_2725delinsTT c.14419_14420delinsTT (p.Asn4807Phe) c.14404_14405delinsTT (p.Asn4802Phe) c.14401_14402delinsTT (p.Asn4801Phe) c.14386_14387delinsTT (p.Asn4796Phe) c.14416_14417delinsTT (p.Asn4806Phe) c.14332_14333delinsTT (p.Asn4778Phe) | |
| 19 | g.38580037A= | CA2335092274 | RYR1 | c.1356A= c.2753A= c.2725A= c.14420A= (p.Asn4807=) c.14405A= (p.Asn4802=) c.14402A= (p.Asn4801=) c.14387A= (p.Asn4796=) c.14417A= (p.Asn4806=) c.14333A= (p.Asn4778=) | |
| 19 | g.38580037A>C | CA405687034 | RYR1 | c.1356A>C c.2753A>C c.2725A>C c.14420A>C (p.Asn4807Thr) c.14405A>C (p.Asn4802Thr) c.14402A>C (p.Asn4801Thr) c.14387A>C (p.Asn4796Thr) c.14417A>C (p.Asn4806Thr) c.14333A>C (p.Asn4778Thr) | |
| 19 | g.38580037A>G | CA405687036 | RYR1 | c.1356A>G c.2753A>G c.2725A>G c.14420A>G (p.Asn4807Ser) c.14405A>G (p.Asn4802Ser) c.14402A>G (p.Asn4801Ser) c.14387A>G (p.Asn4796Ser) c.14417A>G (p.Asn4806Ser) c.14333A>G (p.Asn4778Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38580037A>T | CA405687037 | RYR1 | c.1356A>T c.2753A>T c.2725A>T c.14420A>T (p.Asn4807Ile) c.14405A>T (p.Asn4802Ile) c.14402A>T (p.Asn4801Ile) c.14387A>T (p.Asn4796Ile) c.14417A>T (p.Asn4806Ile) c.14333A>T (p.Asn4778Ile) | |
| 19 | g.38580037_38580040delinsACTT | CA2335092275 | RYR1 | c.1356_1359delinsACTT c.2753_2756delinsACTT c.2725_2728delinsACTT c.14420_14423delinsACTT (p.Asn4807=) c.14405_14408delinsACTT (p.Asn4802=) c.14402_14405delinsACTT (p.Asn4801=) c.14387_14390delinsACTT (p.Asn4796=) c.14417_14420delinsACTT (p.Asn4806=) c.14333_14336delinsACTT (p.Asn4778=) | |
| 19 | g.38580038C>A | CA405687038 | RYR1 | c.1357C>A c.2754C>A c.2726C>A c.14421C>A (p.Asn4807Lys) c.14406C>A (p.Asn4802Lys) c.14403C>A (p.Asn4801Lys) c.14388C>A (p.Asn4796Lys) c.14418C>A (p.Asn4806Lys) c.14334C>A (p.Asn4778Lys) | |
| 19 | g.38580038C= | CA2335092276 | RYR1 | c.1357C= c.2754C= c.2726C= c.14421C= (p.Asn4807=) c.14406C= (p.Asn4802=) c.14403C= (p.Asn4801=) c.14388C= (p.Asn4796=) c.14418C= (p.Asn4806=) c.14334C= (p.Asn4778=) | |
| 19 | g.38580038C>G | CA405687040 | RYR1 | c.1357C>G c.2754C>G c.2726C>G c.14421C>G (p.Asn4807Lys) c.14406C>G (p.Asn4802Lys) c.14403C>G (p.Asn4801Lys) c.14388C>G (p.Asn4796Lys) c.14418C>G (p.Asn4806Lys) c.14334C>G (p.Asn4778Lys) | |
| 19 | g.38580038C>T | CA081223 | RYR1 | c.1357C>T c.2754C>T c.2726C>T c.14421C>T (p.Asn4807=) c.14406C>T (p.Asn4802=) c.14403C>T (p.Asn4801=) c.14388C>T (p.Asn4796=) c.14418C>T (p.Asn4806=) c.14334C>T (p.Asn4778=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580044_38580046del | CA658658814 | RYR1 | c.1363_1365del c.2760_2762del c.2732_2734del c.14427_14429del (p.Phe4810del) c.14412_14414del (p.Phe4805del) c.14409_14411del (p.Phe4804del) c.14394_14396del (p.Phe4799del) c.14424_14426del (p.Phe4809del) c.14340_14342del (p.Phe4781del) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38580039T>A | CA024139 | RYR1 | c.1358T>A c.2755T>A c.2727T>A c.14422T>A (p.Phe4808Ile) c.14407T>A (p.Phe4803Ile) c.14404T>A (p.Phe4802Ile) c.14389T>A (p.Phe4797Ile) c.14419T>A (p.Phe4807Ile) c.14335T>A (p.Phe4779Ile) | ClinVar dbSNP |
| 19 | g.38580039T>C | CA405687042 | RYR1 | c.1358T>C c.2755T>C c.2727T>C c.14422T>C (p.Phe4808Leu) c.14407T>C (p.Phe4803Leu) c.14404T>C (p.Phe4802Leu) c.14389T>C (p.Phe4797Leu) c.14419T>C (p.Phe4807Leu) c.14335T>C (p.Phe4779Leu) | |
| 19 | g.38580039T>G | CA405687041 | RYR1 | c.1358T>G c.2755T>G c.2727T>G c.14422T>G (p.Phe4808Val) c.14407T>G (p.Phe4803Val) c.14404T>G (p.Phe4802Val) c.14389T>G (p.Phe4797Val) c.14419T>G (p.Phe4807Val) c.14335T>G (p.Phe4779Val) | |
| 19 | g.38580039T= | CA2335092277 | RYR1 | c.1358T= c.2755T= c.2727T= c.14422T= (p.Phe4808=) c.14407T= (p.Phe4803=) c.14404T= (p.Phe4802=) c.14389T= (p.Phe4797=) c.14419T= (p.Phe4807=) c.14335T= (p.Phe4779=) | |
| 19 | g.38580039_38580040delinsAA | CA658658815 | RYR1 | c.1358_1359delinsAA c.2755_2756delinsAA c.2727_2728delinsAA c.14422_14423delinsAA (p.Phe4808Asn) c.14407_14408delinsAA (p.Phe4803Asn) c.14404_14405delinsAA (p.Phe4802Asn) c.14389_14390delinsAA (p.Phe4797Asn) c.14419_14420delinsAA (p.Phe4807Asn) c.14335_14336delinsAA (p.Phe4779Asn) | ClinVar |
| 19 | g.38580040T>A | CA405687045 | RYR1 | c.1359T>A c.2756T>A c.2728T>A c.14423T>A (p.Phe4808Tyr) c.14408T>A (p.Phe4803Tyr) c.14405T>A (p.Phe4802Tyr) c.14390T>A (p.Phe4797Tyr) c.14420T>A (p.Phe4807Tyr) c.14336T>A (p.Phe4779Tyr) | ClinVar dbSNP |
| 19 | g.38580040T>C | CA405687047 | RYR1 | c.1359T>C c.2756T>C c.2728T>C c.14423T>C (p.Phe4808Ser) c.14408T>C (p.Phe4803Ser) c.14405T>C (p.Phe4802Ser) c.14390T>C (p.Phe4797Ser) c.14420T>C (p.Phe4807Ser) c.14336T>C (p.Phe4779Ser) | |
| 19 | g.38580040T>G | CA405687050 | RYR1 | c.1359T>G c.2756T>G c.2728T>G c.14423T>G (p.Phe4808Cys) c.14408T>G (p.Phe4803Cys) c.14405T>G (p.Phe4802Cys) c.14390T>G (p.Phe4797Cys) c.14420T>G (p.Phe4807Cys) c.14336T>G (p.Phe4779Cys) | ClinVar dbSNP |
| 19 | g.38580040T= | CA2335092278 | RYR1 | c.1359T= c.2756T= c.2728T= c.14423T= (p.Phe4808=) c.14408T= (p.Phe4803=) c.14405T= (p.Phe4802=) c.14390T= (p.Phe4797=) c.14420T= (p.Phe4807=) c.14336T= (p.Phe4779=) | |
| 19 | g.38580041C>A | CA405687052 | RYR1 | c.1360C>A c.2757C>A c.2729C>A c.14424C>A (p.Phe4808Leu) c.14409C>A (p.Phe4803Leu) c.14406C>A (p.Phe4802Leu) c.14391C>A (p.Phe4797Leu) c.14421C>A (p.Phe4807Leu) c.14337C>A (p.Phe4779Leu) | ClinVar dbSNP |
| 19 | g.38580041C= | CA2335092279 | RYR1 | c.1360C= c.2757C= c.2729C= c.14424C= (p.Phe4808=) c.14409C= (p.Phe4803=) c.14406C= (p.Phe4802=) c.14391C= (p.Phe4797=) c.14421C= (p.Phe4807=) c.14337C= (p.Phe4779=) | |
| 19 | g.38580041C>G | CA405687057 | RYR1 | c.1360C>G c.2757C>G c.2729C>G c.14424C>G (p.Phe4808Leu) c.14409C>G (p.Phe4803Leu) c.14406C>G (p.Phe4802Leu) c.14391C>G (p.Phe4797Leu) c.14421C>G (p.Phe4807Leu) c.14337C>G (p.Phe4779Leu) | ClinVar dbSNP |
| 19 | g.38580041C>T | CA061258 | RYR1 | c.1360C>T c.2757C>T c.2729C>T c.14424C>T (p.Phe4808=) c.14409C>T (p.Phe4803=) c.14406C>T (p.Phe4802=) c.14391C>T (p.Phe4797=) c.14421C>T (p.Phe4807=) c.14337C>T (p.Phe4779=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38580042T>A | CA405687059 | RYR1 | c.1361T>A c.2758T>A c.2730T>A c.14425T>A (p.Phe4809Ile) c.14410T>A (p.Phe4804Ile) c.14407T>A (p.Phe4803Ile) c.14392T>A (p.Phe4798Ile) c.14422T>A (p.Phe4808Ile) c.14338T>A (p.Phe4780Ile) | gnomAD v4 |
| 19 | g.38580042T>C | CA405687062 | RYR1 | c.1361T>C c.2758T>C c.2730T>C c.14425T>C (p.Phe4809Leu) c.14410T>C (p.Phe4804Leu) c.14407T>C (p.Phe4803Leu) c.14392T>C (p.Phe4798Leu) c.14422T>C (p.Phe4808Leu) c.14338T>C (p.Phe4780Leu) | |
| 19 | g.38580042T>G | CA405687065 | RYR1 | c.1361T>G c.2758T>G c.2730T>G c.14425T>G (p.Phe4809Val) c.14410T>G (p.Phe4804Val) c.14407T>G (p.Phe4803Val) c.14392T>G (p.Phe4798Val) c.14422T>G (p.Phe4808Val) c.14338T>G (p.Phe4780Val) | |
| 19 | g.38580043T>A | CA405687069 | RYR1 | c.1362T>A c.2759T>A c.2731T>A c.14426T>A (p.Phe4809Tyr) c.14411T>A (p.Phe4804Tyr) c.14408T>A (p.Phe4803Tyr) c.14393T>A (p.Phe4798Tyr) c.14423T>A (p.Phe4808Tyr) c.14339T>A (p.Phe4780Tyr) | |
| 19 | g.38580043T>C | CA405687070 | RYR1 | c.1362T>C c.2759T>C c.2731T>C c.14426T>C (p.Phe4809Ser) c.14411T>C (p.Phe4804Ser) c.14408T>C (p.Phe4803Ser) c.14393T>C (p.Phe4798Ser) c.14423T>C (p.Phe4808Ser) c.14339T>C (p.Phe4780Ser) | ClinVar |
| 19 | g.38580043T>G | CA405687072 | RYR1 | c.1362T>G c.2759T>G c.2731T>G c.14426T>G (p.Phe4809Cys) c.14411T>G (p.Phe4804Cys) c.14408T>G (p.Phe4803Cys) c.14393T>G (p.Phe4798Cys) c.14423T>G (p.Phe4808Cys) c.14339T>G (p.Phe4780Cys) | |
| 19 | g.38580044C>A | CA405687075 | RYR1 | c.1363C>A c.2760C>A c.2732C>A c.14427C>A (p.Phe4809Leu) c.14412C>A (p.Phe4804Leu) c.14409C>A (p.Phe4803Leu) c.14394C>A (p.Phe4798Leu) c.14424C>A (p.Phe4808Leu) c.14340C>A (p.Phe4780Leu) | dbSNP |
| 19 | g.38580044C= | CA2335092280 | RYR1 | c.1363C= c.2760C= c.2732C= c.14427C= (p.Phe4809=) c.14412C= (p.Phe4804=) c.14409C= (p.Phe4803=) c.14394C= (p.Phe4798=) c.14424C= (p.Phe4808=) c.14340C= (p.Phe4780=) | |
| 19 | g.38580044C>G | CA405687073 | RYR1 | c.1363C>G c.2760C>G c.2732C>G c.14427C>G (p.Phe4809Leu) c.14412C>G (p.Phe4804Leu) c.14409C>G (p.Phe4803Leu) c.14394C>G (p.Phe4798Leu) c.14424C>G (p.Phe4808Leu) c.14340C>G (p.Phe4780Leu) | |
| 19 | g.38580044C>T | CA081225 | RYR1 | c.1363C>T c.2760C>T c.2732C>T c.14427C>T (p.Phe4809=) c.14412C>T (p.Phe4804=) c.14409C>T (p.Phe4803=) c.14394C>T (p.Phe4798=) c.14424C>T (p.Phe4808=) c.14340C>T (p.Phe4780=) | ClinVar |
| 19 | g.38580045T>A | CA405687076 | RYR1 | c.1364T>A c.2761T>A c.2733T>A c.14428T>A (p.Phe4810Ile) c.14413T>A (p.Phe4805Ile) c.14410T>A (p.Phe4804Ile) c.14395T>A (p.Phe4799Ile) c.14425T>A (p.Phe4809Ile) c.14341T>A (p.Phe4781Ile) | |
| 19 | g.38580045T>C | CA405687079 | RYR1 | c.1364T>C c.2761T>C c.2733T>C c.14428T>C (p.Phe4810Leu) c.14413T>C (p.Phe4805Leu) c.14410T>C (p.Phe4804Leu) c.14395T>C (p.Phe4799Leu) c.14425T>C (p.Phe4809Leu) c.14341T>C (p.Phe4781Leu) | |
| 19 | g.38580045T>G | CA405687078 | RYR1 | c.1364T>G c.2761T>G c.2733T>G c.14428T>G (p.Phe4810Val) c.14413T>G (p.Phe4805Val) c.14410T>G (p.Phe4804Val) c.14395T>G (p.Phe4799Val) c.14425T>G (p.Phe4809Val) c.14341T>G (p.Phe4781Val) | |
| 19 | g.38580046T>A | CA405687081 | RYR1 | c.1365T>A c.2762T>A c.2734T>A c.14429T>A (p.Phe4810Tyr) c.14414T>A (p.Phe4805Tyr) c.14411T>A (p.Phe4804Tyr) c.14396T>A (p.Phe4799Tyr) c.14426T>A (p.Phe4809Tyr) c.14342T>A (p.Phe4781Tyr) | |
| 19 | g.38580046T>C | CA405687083 | RYR1 | c.1365T>C c.2762T>C c.2734T>C c.14429T>C (p.Phe4810Ser) c.14414T>C (p.Phe4805Ser) c.14411T>C (p.Phe4804Ser) c.14396T>C (p.Phe4799Ser) c.14426T>C (p.Phe4809Ser) c.14342T>C (p.Phe4781Ser) | |
| 19 | g.38580046T>G | CA405687085 | RYR1 | c.1365T>G c.2762T>G c.2734T>G c.14429T>G (p.Phe4810Cys) c.14414T>G (p.Phe4805Cys) c.14411T>G (p.Phe4804Cys) c.14396T>G (p.Phe4799Cys) c.14426T>G (p.Phe4809Cys) c.14342T>G (p.Phe4781Cys) | |
| 19 | g.38580047T>A | CA405687086 | RYR1 | c.1366T>A c.2763T>A c.2735T>A c.14430T>A (p.Phe4810Leu) c.14415T>A (p.Phe4805Leu) c.14412T>A (p.Phe4804Leu) c.14397T>A (p.Phe4799Leu) c.14427T>A (p.Phe4809Leu) c.14343T>A (p.Phe4781Leu) | |
| 19 | g.38580047T>C | CA507355991 | RYR1 | c.1366T>C c.2763T>C c.2735T>C c.14430T>C (p.Phe4810=) c.14415T>C (p.Phe4805=) c.14412T>C (p.Phe4804=) c.14397T>C (p.Phe4799=) c.14427T>C (p.Phe4809=) c.14343T>C (p.Phe4781=) | |
| 19 | g.38580047T>G | CA405687089 | RYR1 | c.1366T>G c.2763T>G c.2735T>G c.14430T>G (p.Phe4810Leu) c.14415T>G (p.Phe4805Leu) c.14412T>G (p.Phe4804Leu) c.14397T>G (p.Phe4799Leu) c.14427T>G (p.Phe4809Leu) c.14343T>G (p.Phe4781Leu) | |
| 19 | g.38580048G>A | CA405687092 | RYR1 | c.1367G>A c.2764G>A c.2736G>A c.14431G>A (p.Ala4811Thr) c.14416G>A (p.Ala4806Thr) c.14413G>A (p.Ala4805Thr) c.14398G>A (p.Ala4800Thr) c.14428G>A (p.Ala4810Thr) c.14344G>A (p.Ala4782Thr) | COSMIC |
| 19 | g.38580048G>C | CA405687094 | RYR1 | c.1367G>C c.2764G>C c.2736G>C c.14431G>C (p.Ala4811Pro) c.14416G>C (p.Ala4806Pro) c.14413G>C (p.Ala4805Pro) c.14398G>C (p.Ala4800Pro) c.14428G>C (p.Ala4810Pro) c.14344G>C (p.Ala4782Pro) | |
| 19 | g.38580048G>T | CA405687097 | RYR1 | c.1367G>T c.2764G>T c.2736G>T c.14431G>T (p.Ala4811Ser) c.14416G>T (p.Ala4806Ser) c.14413G>T (p.Ala4805Ser) c.14398G>T (p.Ala4800Ser) c.14428G>T (p.Ala4810Ser) c.14344G>T (p.Ala4782Ser) | |
| 19 | g.38580049C>A | CA405687101 | RYR1 | c.1368C>A c.2765C>A c.2737C>A c.14432C>A (p.Ala4811Asp) c.14417C>A (p.Ala4806Asp) c.14414C>A (p.Ala4805Asp) c.14399C>A (p.Ala4800Asp) c.14429C>A (p.Ala4810Asp) c.14345C>A (p.Ala4782Asp) | |
| 19 | g.38580049C>G | CA405687107 | RYR1 | c.1368C>G c.2765C>G c.2737C>G c.14432C>G (p.Ala4811Gly) c.14417C>G (p.Ala4806Gly) c.14414C>G (p.Ala4805Gly) c.14399C>G (p.Ala4800Gly) c.14429C>G (p.Ala4810Gly) c.14345C>G (p.Ala4782Gly) | |
| 19 | g.38580049C>T | CA405687110 | RYR1 | c.1368C>T c.2765C>T c.2737C>T c.14432C>T (p.Ala4811Val) c.14417C>T (p.Ala4806Val) c.14414C>T (p.Ala4805Val) c.14399C>T (p.Ala4800Val) c.14429C>T (p.Ala4810Val) c.14345C>T (p.Ala4782Val) | |
| 19 | g.38580050T>A | CA507355995 | RYR1 | c.1369T>A c.2766T>A c.2738T>A c.14433T>A (p.Ala4811=) c.14418T>A (p.Ala4806=) c.14415T>A (p.Ala4805=) c.14400T>A (p.Ala4800=) c.14430T>A (p.Ala4810=) c.14346T>A (p.Ala4782=) | |
| 19 | g.38580050T>C | CA507355998 | RYR1 | c.1369T>C c.2766T>C c.2738T>C c.14433T>C (p.Ala4811=) c.14418T>C (p.Ala4806=) c.14415T>C (p.Ala4805=) c.14400T>C (p.Ala4800=) c.14430T>C (p.Ala4810=) c.14346T>C (p.Ala4782=) | ClinVar |
| 19 | g.38580050T>G | CA507355997 | RYR1 | c.1369T>G c.2766T>G c.2738T>G c.14433T>G (p.Ala4811=) c.14418T>G (p.Ala4806=) c.14415T>G (p.Ala4805=) c.14400T>G (p.Ala4800=) c.14430T>G (p.Ala4810=) c.14346T>G (p.Ala4782=) | |
| 19 | g.38580051G>A | CA405687120 | RYR1 | c.1370G>A c.2767G>A c.2739G>A c.14434G>A (p.Ala4812Thr) c.14419G>A (p.Ala4807Thr) c.14416G>A (p.Ala4806Thr) c.14401G>A (p.Ala4801Thr) c.14431G>A (p.Ala4811Thr) c.14347G>A (p.Ala4783Thr) | gnomAD v4 |
| 19 | g.38580051G>C | CA405687113 | RYR1 | c.1370G>C c.2767G>C c.2739G>C c.14434G>C (p.Ala4812Pro) c.14419G>C (p.Ala4807Pro) c.14416G>C (p.Ala4806Pro) c.14401G>C (p.Ala4801Pro) c.14431G>C (p.Ala4811Pro) c.14347G>C (p.Ala4783Pro) | |
| 19 | g.38580051G>T | CA405687117 | RYR1 | c.1370G>T c.2767G>T c.2739G>T c.14434G>T (p.Ala4812Ser) c.14419G>T (p.Ala4807Ser) c.14416G>T (p.Ala4806Ser) c.14401G>T (p.Ala4801Ser) c.14431G>T (p.Ala4811Ser) c.14347G>T (p.Ala4783Ser) | dbSNP gnomAD v4 |
| 19 | g.38580052C>A | CA405687123 | RYR1 | c.1371C>A c.2768C>A c.2740C>A c.14435C>A (p.Ala4812Asp) c.14420C>A (p.Ala4807Asp) c.14417C>A (p.Ala4806Asp) c.14402C>A (p.Ala4801Asp) c.14432C>A (p.Ala4811Asp) c.14348C>A (p.Ala4783Asp) | |
| 19 | g.38580052C>G | CA405687125 | RYR1 | c.1371C>G c.2768C>G c.2740C>G c.14435C>G (p.Ala4812Gly) c.14420C>G (p.Ala4807Gly) c.14417C>G (p.Ala4806Gly) c.14402C>G (p.Ala4801Gly) c.14432C>G (p.Ala4811Gly) c.14348C>G (p.Ala4783Gly) | |
| 19 | g.38580052C>T | CA405687126 | RYR1 | c.1371C>T c.2768C>T c.2740C>T c.14435C>T (p.Ala4812Val) c.14420C>T (p.Ala4807Val) c.14417C>T (p.Ala4806Val) c.14402C>T (p.Ala4801Val) c.14432C>T (p.Ala4811Val) c.14348C>T (p.Ala4783Val) | |
| 19 | g.38580053C>A | CA507356004 | RYR1 | c.1372C>A c.2769C>A c.2741C>A c.14436C>A (p.Ala4812=) c.14421C>A (p.Ala4807=) c.14418C>A (p.Ala4806=) c.14403C>A (p.Ala4801=) c.14433C>A (p.Ala4811=) c.14349C>A (p.Ala4783=) | |
| 19 | g.38580053C>G | CA507356003 | RYR1 | c.1372C>G c.2769C>G c.2741C>G c.14436C>G (p.Ala4812=) c.14421C>G (p.Ala4807=) c.14418C>G (p.Ala4806=) c.14403C>G (p.Ala4801=) c.14433C>G (p.Ala4811=) c.14349C>G (p.Ala4783=) | |
| 19 | g.38580053C>T | CA507356001 | RYR1 | c.1372C>T c.2769C>T c.2741C>T c.14436C>T (p.Ala4812=) c.14421C>T (p.Ala4807=) c.14418C>T (p.Ala4806=) c.14403C>T (p.Ala4801=) c.14433C>T (p.Ala4811=) c.14349C>T (p.Ala4783=) | |
| 19 | g.38580054C>A | CA405687128 | RYR1 | c.1373C>A c.2770C>A c.2742C>A c.14437C>A (p.His4813Asn) c.14422C>A (p.His4808Asn) c.14419C>A (p.His4807Asn) c.14404C>A (p.His4802Asn) c.14434C>A (p.His4812Asn) c.14350C>A (p.His4784Asn) | |
| 19 | g.38580054C>G | CA405687131 | RYR1 | c.1373C>G c.2770C>G c.2742C>G c.14437C>G (p.His4813Asp) c.14422C>G (p.His4808Asp) c.14419C>G (p.His4807Asp) c.14404C>G (p.His4802Asp) c.14434C>G (p.His4812Asp) c.14350C>G (p.His4784Asp) | |
| 19 | g.38580054C>T | CA405687134 | RYR1 | c.1373C>T c.2770C>T c.2742C>T c.14437C>T (p.His4813Tyr) c.14422C>T (p.His4808Tyr) c.14419C>T (p.His4807Tyr) c.14404C>T (p.His4802Tyr) c.14434C>T (p.His4812Tyr) c.14350C>T (p.His4784Tyr) | ClinVar dbSNP |
| 19 | g.38580055A>C | CA405687136 | RYR1 | c.1374A>C c.2771A>C c.2743A>C c.14438A>C (p.His4813Pro) c.14423A>C (p.His4808Pro) c.14420A>C (p.His4807Pro) c.14405A>C (p.His4802Pro) c.14435A>C (p.His4812Pro) c.14351A>C (p.His4784Pro) | |
| 19 | g.38580055A>G | CA405687138 | RYR1 | c.1374A>G c.2771A>G c.2743A>G c.14438A>G (p.His4813Arg) c.14423A>G (p.His4808Arg) c.14420A>G (p.His4807Arg) c.14405A>G (p.His4802Arg) c.14435A>G (p.His4812Arg) c.14351A>G (p.His4784Arg) | ClinVar |
| 19 | g.38580055A>T | CA405687139 | RYR1 | c.1374A>T c.2771A>T c.2743A>T c.14438A>T (p.His4813Leu) c.14423A>T (p.His4808Leu) c.14420A>T (p.His4807Leu) c.14405A>T (p.His4802Leu) c.14435A>T (p.His4812Leu) c.14351A>T (p.His4784Leu) | |
| 19 | g.38580056T>A | CA405687141 | RYR1 | c.1375T>A c.2772T>A c.2744T>A c.14439T>A (p.His4813Gln) c.14424T>A (p.His4808Gln) c.14421T>A (p.His4807Gln) c.14406T>A (p.His4802Gln) c.14436T>A (p.His4812Gln) c.14352T>A (p.His4784Gln) | |
| 19 | g.38580056T>C | CA507356006 | RYR1 | c.1375T>C c.2772T>C c.2744T>C c.14439T>C (p.His4813=) c.14424T>C (p.His4808=) c.14421T>C (p.His4807=) c.14406T>C (p.His4802=) c.14436T>C (p.His4812=) c.14352T>C (p.His4784=) | |
| 19 | g.38580056T>G | CA405687143 | RYR1 | c.1375T>G c.2772T>G c.2744T>G c.14439T>G (p.His4813Gln) c.14424T>G (p.His4808Gln) c.14421T>G (p.His4807Gln) c.14406T>G (p.His4802Gln) c.14436T>G (p.His4812Gln) c.14352T>G (p.His4784Gln) | |
| 19 | g.38580057C>A | CA405687146 | RYR1 | c.1376C>A c.2773C>A c.2745C>A c.14440C>A (p.Leu4814Ile) c.14425C>A (p.Leu4809Ile) c.14422C>A (p.Leu4808Ile) c.14407C>A (p.Leu4803Ile) c.14437C>A (p.Leu4813Ile) c.14353C>A (p.Leu4785Ile) | |
| 19 | g.38580057C= | CA2335092281 | RYR1 | c.1376C= c.2773C= c.2745C= c.14440C= (p.Leu4814=) c.14425C= (p.Leu4809=) c.14422C= (p.Leu4808=) c.14407C= (p.Leu4803=) c.14437C= (p.Leu4813=) c.14353C= (p.Leu4785=) | |
| 19 | g.38580057C>G | CA405687148 | RYR1 | c.1376C>G c.2773C>G c.2745C>G c.14440C>G (p.Leu4814Val) c.14425C>G (p.Leu4809Val) c.14422C>G (p.Leu4808Val) c.14407C>G (p.Leu4803Val) c.14437C>G (p.Leu4813Val) c.14353C>G (p.Leu4785Val) | |
| 19 | g.38580057C>T | CA024141 | RYR1 | c.1376C>T c.2773C>T c.2745C>T c.14440C>T (p.Leu4814Phe) c.14425C>T (p.Leu4809Phe) c.14422C>T (p.Leu4808Phe) c.14407C>T (p.Leu4803Phe) c.14437C>T (p.Leu4813Phe) c.14353C>T (p.Leu4785Phe) | ClinVar dbSNP |
| 19 | g.38580058T>A | CA405687150 | RYR1 | c.1377T>A c.2774T>A c.2746T>A c.14441T>A (p.Leu4814His) c.14426T>A (p.Leu4809His) c.14423T>A (p.Leu4808His) c.14408T>A (p.Leu4803His) c.14438T>A (p.Leu4813His) c.14354T>A (p.Leu4785His) | |
| 19 | g.38580058T>C | CA405687153 | RYR1 | c.1377T>C c.2774T>C c.2746T>C c.14441T>C (p.Leu4814Pro) c.14426T>C (p.Leu4809Pro) c.14423T>C (p.Leu4808Pro) c.14408T>C (p.Leu4803Pro) c.14438T>C (p.Leu4813Pro) c.14354T>C (p.Leu4785Pro) | |
| 19 | g.38580058T>G | CA405687158 | RYR1 | c.1377T>G c.2774T>G c.2746T>G c.14441T>G (p.Leu4814Arg) c.14426T>G (p.Leu4809Arg) c.14423T>G (p.Leu4808Arg) c.14408T>G (p.Leu4803Arg) c.14438T>G (p.Leu4813Arg) c.14354T>G (p.Leu4785Arg) | |
| 19 | g.38580059C>A | CA507356010 | RYR1 | c.1378C>A c.2775C>A c.2747C>A c.14442C>A (p.Leu4814=) c.14427C>A (p.Leu4809=) c.14424C>A (p.Leu4808=) c.14409C>A (p.Leu4803=) c.14439C>A (p.Leu4813=) c.14355C>A (p.Leu4785=) | |
| 19 | g.38580059C>G | CA507356011 | RYR1 | c.1378C>G c.2775C>G c.2747C>G c.14442C>G (p.Leu4814=) c.14427C>G (p.Leu4809=) c.14424C>G (p.Leu4808=) c.14409C>G (p.Leu4803=) c.14439C>G (p.Leu4813=) c.14355C>G (p.Leu4785=) | |
| 19 | g.38580059C>T | CA507356012 | RYR1 | c.1378C>T c.2775C>T c.2747C>T c.14442C>T (p.Leu4814=) c.14427C>T (p.Leu4809=) c.14424C>T (p.Leu4808=) c.14409C>T (p.Leu4803=) c.14439C>T (p.Leu4813=) c.14355C>T (p.Leu4785=) | COSMIC |
| 19 | g.38580060C>A | CA405687161 | RYR1 | c.1379C>A c.2776C>A c.2748C>A c.14443C>A (p.Leu4815Met) c.14428C>A (p.Leu4810Met) c.14425C>A (p.Leu4809Met) c.14410C>A (p.Leu4804Met) c.14440C>A (p.Leu4814Met) c.14356C>A (p.Leu4786Met) | |
| 19 | g.38580060C>G | CA405687162 | RYR1 | c.1379C>G c.2776C>G c.2748C>G c.14443C>G (p.Leu4815Val) c.14428C>G (p.Leu4810Val) c.14425C>G (p.Leu4809Val) c.14410C>G (p.Leu4804Val) c.14440C>G (p.Leu4814Val) c.14356C>G (p.Leu4786Val) | |
| 19 | g.38580060C>T | CA507356017 | RYR1 | c.1379C>T c.2776C>T c.2748C>T c.14443C>T (p.Leu4815=) c.14428C>T (p.Leu4810=) c.14425C>T (p.Leu4809=) c.14410C>T (p.Leu4804=) c.14440C>T (p.Leu4814=) c.14356C>T (p.Leu4786=) | gnomAD v4 |
| 19 | g.38580061T>A | CA405687163 | RYR1 | c.1380T>A c.2777T>A c.2749T>A c.14444T>A (p.Leu4815Gln) c.14429T>A (p.Leu4810Gln) c.14426T>A (p.Leu4809Gln) c.14411T>A (p.Leu4804Gln) c.14441T>A (p.Leu4814Gln) c.14357T>A (p.Leu4786Gln) | |
| 19 | g.38580061T>C | CA405687164 | RYR1 | c.1380T>C c.2777T>C c.2749T>C c.14444T>C (p.Leu4815Pro) c.14429T>C (p.Leu4810Pro) c.14426T>C (p.Leu4809Pro) c.14411T>C (p.Leu4804Pro) c.14441T>C (p.Leu4814Pro) c.14357T>C (p.Leu4786Pro) | |
| 19 | g.38580061T>G | CA405687165 | RYR1 | c.1380T>G c.2777T>G c.2749T>G c.14444T>G (p.Leu4815Arg) c.14429T>G (p.Leu4810Arg) c.14426T>G (p.Leu4809Arg) c.14411T>G (p.Leu4804Arg) c.14441T>G (p.Leu4814Arg) c.14357T>G (p.Leu4786Arg) | |
| 19 | g.38580062G>A | CA507356019 | RYR1 | c.1381G>A c.2778G>A c.2750G>A c.14445G>A (p.Leu4815=) c.14430G>A (p.Leu4810=) c.14427G>A (p.Leu4809=) c.14412G>A (p.Leu4804=) c.14442G>A (p.Leu4814=) c.14358G>A (p.Leu4786=) | |
| 19 | g.38580062G>C | CA507356020 | RYR1 | c.1381G>C c.2778G>C c.2750G>C c.14445G>C (p.Leu4815=) c.14430G>C (p.Leu4810=) c.14427G>C (p.Leu4809=) c.14412G>C (p.Leu4804=) c.14442G>C (p.Leu4814=) c.14358G>C (p.Leu4786=) | |
| 19 | g.38580062G>T | CA507356021 | RYR1 | c.1381G>T c.2778G>T c.2750G>T c.14445G>T (p.Leu4815=) c.14430G>T (p.Leu4810=) c.14427G>T (p.Leu4809=) c.14412G>T (p.Leu4804=) c.14442G>T (p.Leu4814=) c.14358G>T (p.Leu4786=) | |
| 19 | g.38580063G>A | CA405687166 | RYR1 | c.1382G>A c.2779G>A c.2751G>A c.14446G>A (p.Asp4816Asn) c.14431G>A (p.Asp4811Asn) c.14428G>A (p.Asp4810Asn) c.14413G>A (p.Asp4805Asn) c.14443G>A (p.Asp4815Asn) c.14359G>A (p.Asp4787Asn) | |
| 19 | g.38580063G>C | CA405687167 | RYR1 | c.1382G>C c.2779G>C c.2751G>C c.14446G>C (p.Asp4816His) c.14431G>C (p.Asp4811His) c.14428G>C (p.Asp4810His) c.14413G>C (p.Asp4805His) c.14443G>C (p.Asp4815His) c.14359G>C (p.Asp4787His) | ClinVar dbSNP |
| 19 | g.38580063G>T | CA405687168 | RYR1 | c.1382G>T c.2779G>T c.2751G>T c.14446G>T (p.Asp4816Tyr) c.14431G>T (p.Asp4811Tyr) c.14428G>T (p.Asp4810Tyr) c.14413G>T (p.Asp4805Tyr) c.14443G>T (p.Asp4815Tyr) c.14359G>T (p.Asp4787Tyr) | |
| 19 | g.38580064A= | CA2335092282 | RYR1 | c.1383A= c.2780A= c.2752A= c.14447A= (p.Asp4816=) c.14432A= (p.Asp4811=) c.14429A= (p.Asp4810=) c.14414A= (p.Asp4805=) c.14444A= (p.Asp4815=) c.14360A= (p.Asp4787=) | |
| 19 | g.38580064A>C | CA405687171 | RYR1 | c.1383A>C c.2780A>C c.2752A>C c.14447A>C (p.Asp4816Ala) c.14432A>C (p.Asp4811Ala) c.14429A>C (p.Asp4810Ala) c.14414A>C (p.Asp4805Ala) c.14444A>C (p.Asp4815Ala) c.14360A>C (p.Asp4787Ala) | |
| 19 | g.38580064A>G | CA405687172 | RYR1 | c.1383A>G c.2780A>G c.2752A>G c.14447A>G (p.Asp4816Gly) c.14432A>G (p.Asp4811Gly) c.14429A>G (p.Asp4810Gly) c.14414A>G (p.Asp4805Gly) c.14444A>G (p.Asp4815Gly) c.14360A>G (p.Asp4787Gly) | ClinVar dbSNP |
| 19 | g.38580064A>T | CA405687174 | RYR1 | c.1383A>T c.2780A>T c.2752A>T c.14447A>T (p.Asp4816Val) c.14432A>T (p.Asp4811Val) c.14429A>T (p.Asp4810Val) c.14414A>T (p.Asp4805Val) c.14444A>T (p.Asp4815Val) c.14360A>T (p.Asp4787Val) | |
| 19 | g.38580065C>A | CA405687177 | RYR1 | c.1384C>A c.2781C>A c.2753C>A c.14448C>A (p.Asp4816Glu) c.14433C>A (p.Asp4811Glu) c.14430C>A (p.Asp4810Glu) c.14415C>A (p.Asp4805Glu) c.14445C>A (p.Asp4815Glu) c.14361C>A (p.Asp4787Glu) | |
| 19 | g.38580065C>G | CA405687179 | RYR1 | c.1384C>G c.2781C>G c.2753C>G c.14448C>G (p.Asp4816Glu) c.14433C>G (p.Asp4811Glu) c.14430C>G (p.Asp4810Glu) c.14415C>G (p.Asp4805Glu) c.14445C>G (p.Asp4815Glu) c.14361C>G (p.Asp4787Glu) | |
| 19 | g.38580065C>T | CA507356022 | RYR1 | c.1384C>T c.2781C>T c.2753C>T c.14448C>T (p.Asp4816=) c.14433C>T (p.Asp4811=) c.14430C>T (p.Asp4810=) c.14415C>T (p.Asp4805=) c.14445C>T (p.Asp4815=) c.14361C>T (p.Asp4787=) | |
| 19 | g.38580066A= | CA2335092283 | RYR1 | c.1385A= c.2782A= c.2754A= c.14449A= (p.Ile4817=) c.14434A= (p.Ile4812=) c.14431A= (p.Ile4811=) c.14416A= (p.Ile4806=) c.14446A= (p.Ile4816=) c.14362A= (p.Ile4788=) | |
| 19 | g.38580066A>C | CA405687184 | RYR1 | c.1385A>C c.2782A>C c.2754A>C c.14449A>C (p.Ile4817Leu) c.14434A>C (p.Ile4812Leu) c.14431A>C (p.Ile4811Leu) c.14416A>C (p.Ile4806Leu) c.14446A>C (p.Ile4816Leu) c.14362A>C (p.Ile4788Leu) | |
| 19 | g.38580066A>G | CA061296 | RYR1 | c.1385A>G c.2782A>G c.2754A>G c.14449A>G (p.Ile4817Val) c.14434A>G (p.Ile4812Val) c.14431A>G (p.Ile4811Val) c.14416A>G (p.Ile4806Val) c.14446A>G (p.Ile4816Val) c.14362A>G (p.Ile4788Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580066A>T | CA024143 | RYR1 | c.1385A>T c.2782A>T c.2754A>T c.14449A>T (p.Ile4817Phe) c.14434A>T (p.Ile4812Phe) c.14431A>T (p.Ile4811Phe) c.14416A>T (p.Ile4806Phe) c.14446A>T (p.Ile4816Phe) c.14362A>T (p.Ile4788Phe) | ClinVar dbSNP |
| 19 | g.38580067T>A | CA405687190 | RYR1 | c.1386T>A c.2783T>A c.2755T>A c.14450T>A (p.Ile4817Asn) c.14435T>A (p.Ile4812Asn) c.14432T>A (p.Ile4811Asn) c.14417T>A (p.Ile4806Asn) c.14447T>A (p.Ile4816Asn) c.14363T>A (p.Ile4788Asn) | |
| 19 | g.38580067T>C | CA405687194 | RYR1 | c.1386T>C c.2783T>C c.2755T>C c.14450T>C (p.Ile4817Thr) c.14435T>C (p.Ile4812Thr) c.14432T>C (p.Ile4811Thr) c.14417T>C (p.Ile4806Thr) c.14447T>C (p.Ile4816Thr) c.14363T>C (p.Ile4788Thr) | |
| 19 | g.38580067T>G | CA405687195 | RYR1 | c.1386T>G c.2783T>G c.2755T>G c.14450T>G (p.Ile4817Ser) c.14435T>G (p.Ile4812Ser) c.14432T>G (p.Ile4811Ser) c.14417T>G (p.Ile4806Ser) c.14447T>G (p.Ile4816Ser) c.14363T>G (p.Ile4788Ser) | |
| 19 | g.38580068C>A | CA507356026 | RYR1 | c.1387C>A c.2784C>A c.2756C>A c.14451C>A (p.Ile4817=) c.14436C>A (p.Ile4812=) c.14433C>A (p.Ile4811=) c.14418C>A (p.Ile4806=) c.14448C>A (p.Ile4816=) c.14364C>A (p.Ile4788=) | |
| 19 | g.38580068C= | CA2335092284 | RYR1 | c.1387C= c.2784C= c.2756C= c.14451C= (p.Ile4817=) c.14436C= (p.Ile4812=) c.14433C= (p.Ile4811=) c.14418C= (p.Ile4806=) c.14448C= (p.Ile4816=) c.14364C= (p.Ile4788=) | |
| 19 | g.38580068C>G | CA405687197 | RYR1 | c.1387C>G c.2784C>G c.2756C>G c.14451C>G (p.Ile4817Met) c.14436C>G (p.Ile4812Met) c.14433C>G (p.Ile4811Met) c.14418C>G (p.Ile4806Met) c.14448C>G (p.Ile4816Met) c.14364C>G (p.Ile4788Met) | COSMIC |
| 19 | g.38580068C>T | CA061300 | RYR1 | c.1387C>T c.2784C>T c.2756C>T c.14451C>T (p.Ile4817=) c.14436C>T (p.Ile4812=) c.14433C>T (p.Ile4811=) c.14418C>T (p.Ile4806=) c.14448C>T (p.Ile4816=) c.14364C>T (p.Ile4788=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580069G>A | CA405687200 | RYR1 | c.1388G>A c.2785G>A c.2757G>A c.14452G>A (p.Ala4818Thr) c.14437G>A (p.Ala4813Thr) c.14434G>A (p.Ala4812Thr) c.14419G>A (p.Ala4807Thr) c.14449G>A (p.Ala4817Thr) c.14365G>A (p.Ala4789Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38580069G>C | CA405687202 | RYR1 | c.1388G>C c.2785G>C c.2757G>C c.14452G>C (p.Ala4818Pro) c.14437G>C (p.Ala4813Pro) c.14434G>C (p.Ala4812Pro) c.14419G>C (p.Ala4807Pro) c.14449G>C (p.Ala4817Pro) c.14365G>C (p.Ala4789Pro) | |
| 19 | g.38580069G= | CA2335092285 | RYR1 | c.1388G= c.2785G= c.2757G= c.14452G= (p.Ala4818=) c.14437G= (p.Ala4813=) c.14434G= (p.Ala4812=) c.14419G= (p.Ala4807=) c.14449G= (p.Ala4817=) c.14365G= (p.Ala4789=) | |
| 19 | g.38580069G>T | CA405687204 | RYR1 | c.1388G>T c.2785G>T c.2757G>T c.14452G>T (p.Ala4818Ser) c.14437G>T (p.Ala4813Ser) c.14434G>T (p.Ala4812Ser) c.14419G>T (p.Ala4807Ser) c.14449G>T (p.Ala4817Ser) c.14365G>T (p.Ala4789Ser) | |
| 19 | g.38580070C>A | CA405687206 | RYR1 | c.1389C>A c.2786C>A c.2758C>A c.14453C>A (p.Ala4818Asp) c.14438C>A (p.Ala4813Asp) c.14435C>A (p.Ala4812Asp) c.14420C>A (p.Ala4807Asp) c.14450C>A (p.Ala4817Asp) c.14366C>A (p.Ala4789Asp) | |
| 19 | g.38580070C= | CA2335092286 | RYR1 | c.1389C= c.2786C= c.2758C= c.14453C= (p.Ala4818=) c.14438C= (p.Ala4813=) c.14435C= (p.Ala4812=) c.14420C= (p.Ala4807=) c.14450C= (p.Ala4817=) c.14366C= (p.Ala4789=) | |
| 19 | g.38580070C>G | CA405687207 | RYR1 | c.1389C>G c.2786C>G c.2758C>G c.14453C>G (p.Ala4818Gly) c.14438C>G (p.Ala4813Gly) c.14435C>G (p.Ala4812Gly) c.14420C>G (p.Ala4807Gly) c.14450C>G (p.Ala4817Gly) c.14366C>G (p.Ala4789Gly) | |
| 19 | g.38580070C>T | CA405687208 | RYR1 | c.1389C>T c.2786C>T c.2758C>T c.14453C>T (p.Ala4818Val) c.14438C>T (p.Ala4813Val) c.14435C>T (p.Ala4812Val) c.14420C>T (p.Ala4807Val) c.14450C>T (p.Ala4817Val) c.14366C>T (p.Ala4789Val) | dbSNP gnomAD v2 |
| 19 | g.38580071C>A | CA507356033 | RYR1 | c.1390C>A c.2787C>A c.2759C>A c.14454C>A (p.Ala4818=) c.14439C>A (p.Ala4813=) c.14436C>A (p.Ala4812=) c.14421C>A (p.Ala4807=) c.14451C>A (p.Ala4817=) c.14367C>A (p.Ala4789=) | |
| 19 | g.38580071C>G | CA507356034 | RYR1 | c.1390C>G c.2787C>G c.2759C>G c.14454C>G (p.Ala4818=) c.14439C>G (p.Ala4813=) c.14436C>G (p.Ala4812=) c.14421C>G (p.Ala4807=) c.14451C>G (p.Ala4817=) c.14367C>G (p.Ala4789=) | |
| 19 | g.38580071C>T | CA081227 | RYR1 | c.1390C>T c.2787C>T c.2759C>T c.14454C>T (p.Ala4818=) c.14439C>T (p.Ala4813=) c.14436C>T (p.Ala4812=) c.14421C>T (p.Ala4807=) c.14451C>T (p.Ala4817=) c.14367C>T (p.Ala4789=) | gnomAD v4 |
| 19 | g.38580072A>C | CA405687210 | RYR1 | c.1391A>C c.2788A>C c.2760A>C c.14455A>C (p.Met4819Leu) c.14440A>C (p.Met4814Leu) c.14437A>C (p.Met4813Leu) c.14422A>C (p.Met4808Leu) c.14452A>C (p.Met4818Leu) c.14368A>C (p.Met4790Leu) | |
| 19 | g.38580072A>G | CA405687211 | RYR1 | c.1391A>G c.2788A>G c.2760A>G c.14455A>G (p.Met4819Val) c.14440A>G (p.Met4814Val) c.14437A>G (p.Met4813Val) c.14422A>G (p.Met4808Val) c.14452A>G (p.Met4818Val) c.14368A>G (p.Met4790Val) | gnomAD v4 |
| 19 | g.38580072A>T | CA405687209 | RYR1 | c.1391A>T c.2788A>T c.2760A>T c.14455A>T (p.Met4819Leu) c.14440A>T (p.Met4814Leu) c.14437A>T (p.Met4813Leu) c.14422A>T (p.Met4808Leu) c.14452A>T (p.Met4818Leu) c.14368A>T (p.Met4790Leu) | |
| 19 | g.38580073T>A | CA405687216 | RYR1 | c.1392T>A c.2789T>A c.2761T>A c.14456T>A (p.Met4819Lys) c.14441T>A (p.Met4814Lys) c.14438T>A (p.Met4813Lys) c.14423T>A (p.Met4808Lys) c.14453T>A (p.Met4818Lys) c.14369T>A (p.Met4790Lys) | |
| 19 | g.38580073T>C | CA405687213 | RYR1 | c.1392T>C c.2789T>C c.2761T>C c.14456T>C (p.Met4819Thr) c.14441T>C (p.Met4814Thr) c.14438T>C (p.Met4813Thr) c.14423T>C (p.Met4808Thr) c.14453T>C (p.Met4818Thr) c.14369T>C (p.Met4790Thr) | gnomAD v4 |
| 19 | g.38580073T>G | CA405687218 | RYR1 | c.1392T>G c.2789T>G c.2761T>G c.14456T>G (p.Met4819Arg) c.14441T>G (p.Met4814Arg) c.14438T>G (p.Met4813Arg) c.14423T>G (p.Met4808Arg) c.14453T>G (p.Met4818Arg) c.14369T>G (p.Met4790Arg) | |
| 19 | g.38580073_38580074delinsTG | CA2335092287 | RYR1 | c.1392_1393delinsTG c.2789_2790delinsTG c.2761_2762delinsTG c.14456_14457delinsTG (p.Met4819=) c.14441_14442delinsTG (p.Met4814=) c.14438_14439delinsTG (p.Met4813=) c.14423_14424delinsTG (p.Met4808=) c.14453_14454delinsTG (p.Met4818=) c.14369_14370delinsTG (p.Met4790=) | |
| 19 | g.38580074G>A | CA405687221 | RYR1 | c.1393G>A c.2790G>A c.2762G>A c.14457G>A (p.Met4819Ile) c.14442G>A (p.Met4814Ile) c.14439G>A (p.Met4813Ile) c.14424G>A (p.Met4808Ile) c.14454G>A (p.Met4818Ile) c.14370G>A (p.Met4790Ile) | |
| 19 | g.38580074G>C | CA405687225 | RYR1 | c.1393G>C c.2790G>C c.2762G>C c.14457G>C (p.Met4819Ile) c.14442G>C (p.Met4814Ile) c.14439G>C (p.Met4813Ile) c.14424G>C (p.Met4808Ile) c.14454G>C (p.Met4818Ile) c.14370G>C (p.Met4790Ile) | |
| 19 | g.38580074G>T | CA405687224 | RYR1 | c.1393G>T c.2790G>T c.2762G>T c.14457G>T (p.Met4819Ile) c.14442G>T (p.Met4814Ile) c.14439G>T (p.Met4813Ile) c.14424G>T (p.Met4808Ile) c.14454G>T (p.Met4818Ile) c.14370G>T (p.Met4790Ile) | |
| 19 | g.38580078del | CA995740343 | RYR1 | c.1397del c.2794del c.2766del c.14461del (p.Val4821SerfsTer19) c.14446del (p.Val4816SerfsTer19) c.14443del (p.Val4815SerfsTer19) c.14428del (p.Val4810SerfsTer19) c.14458del (p.Val4820SerfsTer19) c.14374del (p.Val4792SerfsTer19) | dbSNP |
| 19 | g.38580075G>A | CA405687229 | RYR1 | c.1394G>A c.2791G>A c.2763G>A c.14458G>A (p.Gly4820Arg) c.14443G>A (p.Gly4815Arg) c.14440G>A (p.Gly4814Arg) c.14425G>A (p.Gly4809Arg) c.14455G>A (p.Gly4819Arg) c.14371G>A (p.Gly4791Arg) | ClinVar dbSNP |
| 19 | g.38580075G>C | CA405687232 | RYR1 | c.1394G>C c.2791G>C c.2763G>C c.14458G>C (p.Gly4820Arg) c.14443G>C (p.Gly4815Arg) c.14440G>C (p.Gly4814Arg) c.14425G>C (p.Gly4809Arg) c.14455G>C (p.Gly4819Arg) c.14371G>C (p.Gly4791Arg) | |
| 19 | g.38580075G= | CA2335092288 | RYR1 | c.1394G= c.2791G= c.2763G= c.14458G= (p.Gly4820=) c.14443G= (p.Gly4815=) c.14440G= (p.Gly4814=) c.14425G= (p.Gly4809=) c.14455G= (p.Gly4819=) c.14371G= (p.Gly4791=) | |
| 19 | g.38580075G>T | CA024145 | RYR1 | c.1394G>T c.2791G>T c.2763G>T c.14458G>T (p.Gly4820Trp) c.14443G>T (p.Gly4815Trp) c.14440G>T (p.Gly4814Trp) c.14425G>T (p.Gly4809Trp) c.14455G>T (p.Gly4819Trp) c.14371G>T (p.Gly4791Trp) | ClinVar dbSNP |
| 19 | g.38580076G>A | CA405687237 | RYR1 | c.1395G>A c.2792G>A c.2764G>A c.14459G>A (p.Gly4820Glu) c.14444G>A (p.Gly4815Glu) c.14441G>A (p.Gly4814Glu) c.14426G>A (p.Gly4809Glu) c.14456G>A (p.Gly4819Glu) c.14372G>A (p.Gly4791Glu) | |
| 19 | g.38580076G>C | CA405687238 | RYR1 | c.1395G>C c.2792G>C c.2764G>C c.14459G>C (p.Gly4820Ala) c.14444G>C (p.Gly4815Ala) c.14441G>C (p.Gly4814Ala) c.14426G>C (p.Gly4809Ala) c.14456G>C (p.Gly4819Ala) c.14372G>C (p.Gly4791Ala) | gnomAD v4 |
| 19 | g.38580076G>T | CA405687240 | RYR1 | c.1395G>T c.2792G>T c.2764G>T c.14459G>T (p.Gly4820Val) c.14444G>T (p.Gly4815Val) c.14441G>T (p.Gly4814Val) c.14426G>T (p.Gly4809Val) c.14456G>T (p.Gly4819Val) c.14372G>T (p.Gly4791Val) | |
| 19 | g.38580077G>A | CA507356043 | RYR1 | c.1396G>A c.2793G>A c.2765G>A c.14460G>A (p.Gly4820=) c.14445G>A (p.Gly4815=) c.14442G>A (p.Gly4814=) c.14427G>A (p.Gly4809=) c.14457G>A (p.Gly4819=) c.14373G>A (p.Gly4791=) | |
| 19 | g.38580077G>C | CA507356044 | RYR1 | c.1396G>C c.2793G>C c.2765G>C c.14460G>C (p.Gly4820=) c.14445G>C (p.Gly4815=) c.14442G>C (p.Gly4814=) c.14427G>C (p.Gly4809=) c.14457G>C (p.Gly4819=) c.14373G>C (p.Gly4791=) | |
| 19 | g.38580077G>T | CA507356045 | RYR1 | c.1396G>T c.2793G>T c.2765G>T c.14460G>T (p.Gly4820=) c.14445G>T (p.Gly4815=) c.14442G>T (p.Gly4814=) c.14427G>T (p.Gly4809=) c.14457G>T (p.Gly4819=) c.14373G>T (p.Gly4791=) | |
| 19 | g.38580078G>A | CA405687241 | RYR1 | c.1397G>A c.2794G>A c.2766G>A c.14461G>A (p.Val4821Ile) c.14446G>A (p.Val4816Ile) c.14443G>A (p.Val4815Ile) c.14428G>A (p.Val4810Ile) c.14458G>A (p.Val4820Ile) c.14374G>A (p.Val4792Ile) | |
| 19 | g.38580078G>C | CA405687243 | RYR1 | c.1397G>C c.2794G>C c.2766G>C c.14461G>C (p.Val4821Leu) c.14446G>C (p.Val4816Leu) c.14443G>C (p.Val4815Leu) c.14428G>C (p.Val4810Leu) c.14458G>C (p.Val4820Leu) c.14374G>C (p.Val4792Leu) | gnomAD v4 |
| 19 | g.38580078G= | CA2335092289 | RYR1 | c.1397G= c.2794G= c.2766G= c.14461G= (p.Val4821=) c.14446G= (p.Val4816=) c.14443G= (p.Val4815=) c.14428G= (p.Val4810=) c.14458G= (p.Val4820=) c.14374G= (p.Val4792=) | |
| 19 | g.38580078G>T | CA061307 | RYR1 | c.1397G>T c.2794G>T c.2766G>T c.14461G>T (p.Val4821Phe) c.14446G>T (p.Val4816Phe) c.14443G>T (p.Val4815Phe) c.14428G>T (p.Val4810Phe) c.14458G>T (p.Val4820Phe) c.14374G>T (p.Val4792Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38580079T>A | CA405687247 | RYR1 | c.1398T>A c.2795T>A c.2767T>A c.14462T>A (p.Val4821Asp) c.14447T>A (p.Val4816Asp) c.14444T>A (p.Val4815Asp) c.14429T>A (p.Val4810Asp) c.14459T>A (p.Val4820Asp) c.14375T>A (p.Val4792Asp) | |
| 19 | g.38580079T>C | CA405687250 | RYR1 | c.1398T>C c.2795T>C c.2767T>C c.14462T>C (p.Val4821Ala) c.14447T>C (p.Val4816Ala) c.14444T>C (p.Val4815Ala) c.14429T>C (p.Val4810Ala) c.14459T>C (p.Val4820Ala) c.14375T>C (p.Val4792Ala) | ClinVar |
| 19 | g.38580079T>G | CA405687253 | RYR1 | c.1398T>G c.2795T>G c.2767T>G c.14462T>G (p.Val4821Gly) c.14447T>G (p.Val4816Gly) c.14444T>G (p.Val4815Gly) c.14429T>G (p.Val4810Gly) c.14459T>G (p.Val4820Gly) c.14375T>G (p.Val4792Gly) | |
| 19 | g.38580080C>A | CA507356049 | RYR1 | c.1399C>A c.2796C>A c.2768C>A c.14463C>A (p.Val4821=) c.14448C>A (p.Val4816=) c.14445C>A (p.Val4815=) c.14430C>A (p.Val4810=) c.14460C>A (p.Val4820=) c.14376C>A (p.Val4792=) | |
| 19 | g.38580080C= | CA2335092290 | RYR1 | c.1399C= c.2796C= c.2768C= c.14463C= (p.Val4821=) c.14448C= (p.Val4816=) c.14445C= (p.Val4815=) c.14430C= (p.Val4810=) c.14460C= (p.Val4820=) c.14376C= (p.Val4792=) | |
| 19 | g.38580080C>G | CA507356050 | RYR1 | c.1399C>G c.2796C>G c.2768C>G c.14463C>G (p.Val4821=) c.14448C>G (p.Val4816=) c.14445C>G (p.Val4815=) c.14430C>G (p.Val4810=) c.14460C>G (p.Val4820=) c.14376C>G (p.Val4792=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38580080C>T | CA507356051 | RYR1 | c.1399C>T c.2796C>T c.2768C>T c.14463C>T (p.Val4821=) c.14448C>T (p.Val4816=) c.14445C>T (p.Val4815=) c.14430C>T (p.Val4810=) c.14460C>T (p.Val4820=) c.14376C>T (p.Val4792=) | gnomAD v4 |
| 19 | g.38580081A>C | CA405687267 | RYR1 | c.1400A>C c.2797A>C c.2769A>C c.14464A>C (p.Lys4822Gln) c.14449A>C (p.Lys4817Gln) c.14446A>C (p.Lys4816Gln) c.14431A>C (p.Lys4811Gln) c.14461A>C (p.Lys4821Gln) c.14377A>C (p.Lys4793Gln) | |
| 19 | g.38580081A>G | CA405687262 | RYR1 | c.1400A>G c.2797A>G c.2769A>G c.14464A>G (p.Lys4822Glu) c.14449A>G (p.Lys4817Glu) c.14446A>G (p.Lys4816Glu) c.14431A>G (p.Lys4811Glu) c.14461A>G (p.Lys4821Glu) c.14377A>G (p.Lys4793Glu) | |
| 19 | g.38580081A>T | CA405687265 | RYR1 | c.1400A>T c.2797A>T c.2769A>T c.14464A>T (p.Lys4822Ter) c.14449A>T (p.Lys4817Ter) c.14446A>T (p.Lys4816Ter) c.14431A>T (p.Lys4811Ter) c.14461A>T (p.Lys4821Ter) c.14377A>T (p.Lys4793Ter) | |
| 19 | g.38580082A>C | CA405687270 | RYR1 | c.1401A>C c.2798A>C c.2770A>C c.14465A>C (p.Lys4822Thr) c.14450A>C (p.Lys4817Thr) c.14447A>C (p.Lys4816Thr) c.14432A>C (p.Lys4811Thr) c.14462A>C (p.Lys4821Thr) c.14378A>C (p.Lys4793Thr) | |
| 19 | g.38580082A>G | CA405687274 | RYR1 | c.1401A>G c.2798A>G c.2770A>G c.14465A>G (p.Lys4822Arg) c.14450A>G (p.Lys4817Arg) c.14447A>G (p.Lys4816Arg) c.14432A>G (p.Lys4811Arg) c.14462A>G (p.Lys4821Arg) c.14378A>G (p.Lys4793Arg) | |
| 19 | g.38580082A>T | CA405687276 | RYR1 | c.1401A>T c.2798A>T c.2770A>T c.14465A>T (p.Lys4822Met) c.14450A>T (p.Lys4817Met) c.14447A>T (p.Lys4816Met) c.14432A>T (p.Lys4811Met) c.14462A>T (p.Lys4821Met) c.14378A>T (p.Lys4793Met) | |
| 19 | g.38580083G>A | CA507356054 | RYR1 | c.1402G>A c.2799G>A c.2771G>A c.14466G>A (p.Lys4822=) c.14451G>A (p.Lys4817=) c.14448G>A (p.Lys4816=) c.14433G>A (p.Lys4811=) c.14463G>A (p.Lys4821=) c.14379G>A (p.Lys4793=) | |
| 19 | g.38580083G>C | CA405687279 | RYR1 | c.1402G>C c.2799G>C c.2771G>C c.14466G>C (p.Lys4822Asn) c.14451G>C (p.Lys4817Asn) c.14448G>C (p.Lys4816Asn) c.14433G>C (p.Lys4811Asn) c.14463G>C (p.Lys4821Asn) c.14379G>C (p.Lys4793Asn) | |
| 19 | g.38580083G>T | CA405687281 | RYR1 | c.1402G>T c.2799G>T c.2771G>T c.14466G>T (p.Lys4822Asn) c.14451G>T (p.Lys4817Asn) c.14448G>T (p.Lys4816Asn) c.14433G>T (p.Lys4811Asn) c.14463G>T (p.Lys4821Asn) c.14379G>T (p.Lys4793Asn) | |
| 19 | g.38580084A>C | CA405687282 | RYR1 | c.1403A>C c.2800A>C c.2772A>C c.14467A>C (p.Thr4823Pro) c.14452A>C (p.Thr4818Pro) c.14449A>C (p.Thr4817Pro) c.14434A>C (p.Thr4812Pro) c.14464A>C (p.Thr4822Pro) c.14380A>C (p.Thr4794Pro) | |
| 19 | g.38580084A>G | CA405687285 | RYR1 | c.1403A>G c.2800A>G c.2772A>G c.14467A>G (p.Thr4823Ala) c.14452A>G (p.Thr4818Ala) c.14449A>G (p.Thr4817Ala) c.14434A>G (p.Thr4812Ala) c.14464A>G (p.Thr4822Ala) c.14380A>G (p.Thr4794Ala) | |
| 19 | g.38580084A>T | CA405687287 | RYR1 | c.1403A>T c.2800A>T c.2772A>T c.14467A>T (p.Thr4823Ser) c.14452A>T (p.Thr4818Ser) c.14449A>T (p.Thr4817Ser) c.14434A>T (p.Thr4812Ser) c.14464A>T (p.Thr4822Ser) c.14380A>T (p.Thr4794Ser) | |
| 19 | g.38580085C>A | CA405687289 | RYR1 | c.1404C>A c.2801C>A c.2773C>A c.14468C>A (p.Thr4823Lys) c.14453C>A (p.Thr4818Lys) c.14450C>A (p.Thr4817Lys) c.14435C>A (p.Thr4812Lys) c.14465C>A (p.Thr4822Lys) c.14381C>A (p.Thr4794Lys) | |
| 19 | g.38580085C= | CA2335092291 | RYR1 | c.1404C= c.2801C= c.2773C= c.14468C= (p.Thr4823=) c.14453C= (p.Thr4818=) c.14450C= (p.Thr4817=) c.14435C= (p.Thr4812=) c.14465C= (p.Thr4822=) c.14381C= (p.Thr4794=) | |
| 19 | g.38580085C>G | CA405687290 | RYR1 | c.1404C>G c.2801C>G c.2773C>G c.14468C>G (p.Thr4823Arg) c.14453C>G (p.Thr4818Arg) c.14450C>G (p.Thr4817Arg) c.14435C>G (p.Thr4812Arg) c.14465C>G (p.Thr4822Arg) c.14381C>G (p.Thr4794Arg) | |
| 19 | g.38580085C>T | CA024146 | RYR1 | c.1404C>T c.2801C>T c.2773C>T c.14468C>T (p.Thr4823Met) c.14453C>T (p.Thr4818Met) c.14450C>T (p.Thr4817Met) c.14435C>T (p.Thr4812Met) c.14465C>T (p.Thr4822Met) c.14381C>T (p.Thr4794Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38580086G>A | CA061310 | RYR1 | c.1405G>A c.2802G>A c.2774G>A c.14469G>A (p.Thr4823=) c.14454G>A (p.Thr4818=) c.14451G>A (p.Thr4817=) c.14436G>A (p.Thr4812=) c.14466G>A (p.Thr4822=) c.14382G>A (p.Thr4794=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580086G>C | CA507356056 | RYR1 | c.1405G>C c.2802G>C c.2774G>C c.14469G>C (p.Thr4823=) c.14454G>C (p.Thr4818=) c.14451G>C (p.Thr4817=) c.14436G>C (p.Thr4812=) c.14466G>C (p.Thr4822=) c.14382G>C (p.Thr4794=) | |
| 19 | g.38580086G= | CA2335092292 | RYR1 | c.1405G= c.2802G= c.2774G= c.14469G= (p.Thr4823=) c.14454G= (p.Thr4818=) c.14451G= (p.Thr4817=) c.14436G= (p.Thr4812=) c.14466G= (p.Thr4822=) c.14382G= (p.Thr4794=) | |
| 19 | g.38580086G>T | CA10587337 | RYR1 | c.1405G>T c.2802G>T c.2774G>T c.14469G>T (p.Thr4823=) c.14454G>T (p.Thr4818=) c.14451G>T (p.Thr4817=) c.14436G>T (p.Thr4812=) c.14466G>T (p.Thr4822=) c.14382G>T (p.Thr4794=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38580087C>A | CA405687292 | RYR1 | c.1406C>A c.2803C>A c.2775C>A c.14470C>A (p.Leu4824Met) c.14455C>A (p.Leu4819Met) c.14452C>A (p.Leu4818Met) c.14437C>A (p.Leu4813Met) c.14467C>A (p.Leu4823Met) c.14383C>A (p.Leu4795Met) | |
| 19 | g.38580087C>G | CA405687294 | RYR1 | c.1406C>G c.2803C>G c.2775C>G c.14470C>G (p.Leu4824Val) c.14455C>G (p.Leu4819Val) c.14452C>G (p.Leu4818Val) c.14437C>G (p.Leu4813Val) c.14467C>G (p.Leu4823Val) c.14383C>G (p.Leu4795Val) | |
| 19 | g.38580087C>T | CA507356058 | RYR1 | c.1406C>T c.2803C>T c.2775C>T c.14470C>T (p.Leu4824=) c.14455C>T (p.Leu4819=) c.14452C>T (p.Leu4818=) c.14437C>T (p.Leu4813=) c.14467C>T (p.Leu4823=) c.14383C>T (p.Leu4795=) | |
| 19 | g.38580088T>A | CA405687297 | RYR1 | c.1407T>A c.2804T>A c.2776T>A c.14471T>A (p.Leu4824Gln) c.14456T>A (p.Leu4819Gln) c.14453T>A (p.Leu4818Gln) c.14438T>A (p.Leu4813Gln) c.14468T>A (p.Leu4823Gln) c.14384T>A (p.Leu4795Gln) | |
| 19 | g.38580088T>C | CA024148 | RYR1 | c.1407T>C c.2804T>C c.2776T>C c.14471T>C (p.Leu4824Pro) c.14456T>C (p.Leu4819Pro) c.14453T>C (p.Leu4818Pro) c.14438T>C (p.Leu4813Pro) c.14468T>C (p.Leu4823Pro) c.14384T>C (p.Leu4795Pro) | ClinVar dbSNP |
| 19 | g.38580088T>G | CA405687300 | RYR1 | c.1407T>G c.2804T>G c.2776T>G c.14471T>G (p.Leu4824Arg) c.14456T>G (p.Leu4819Arg) c.14453T>G (p.Leu4818Arg) c.14438T>G (p.Leu4813Arg) c.14468T>G (p.Leu4823Arg) c.14384T>G (p.Leu4795Arg) | |
| 19 | g.38580088T= | CA2335092293 | RYR1 | c.1407T= c.2804T= c.2776T= c.14471T= (p.Leu4824=) c.14456T= (p.Leu4819=) c.14453T= (p.Leu4818=) c.14438T= (p.Leu4813=) c.14468T= (p.Leu4823=) c.14384T= (p.Leu4795=) | |
| 19 | g.38580089G>A | CA081230 | RYR1 | c.1408G>A c.2805G>A c.2777G>A c.14472G>A (p.Leu4824=) c.14457G>A (p.Leu4819=) c.14454G>A (p.Leu4818=) c.14439G>A (p.Leu4813=) c.14469G>A (p.Leu4823=) c.14385G>A (p.Leu4795=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38580089G>C | CA507356061 | RYR1 | c.1408G>C c.2805G>C c.2777G>C c.14472G>C (p.Leu4824=) c.14457G>C (p.Leu4819=) c.14454G>C (p.Leu4818=) c.14439G>C (p.Leu4813=) c.14469G>C (p.Leu4823=) c.14385G>C (p.Leu4795=) | |
| 19 | g.38580089G= | CA2335092294 | RYR1 | c.1408G= c.2805G= c.2777G= c.14472G= (p.Leu4824=) c.14457G= (p.Leu4819=) c.14454G= (p.Leu4818=) c.14439G= (p.Leu4813=) c.14469G= (p.Leu4823=) c.14385G= (p.Leu4795=) | |
| 19 | g.38580089G>T | CA507356062 | RYR1 | c.1408G>T c.2805G>T c.2777G>T c.14472G>T (p.Leu4824=) c.14457G>T (p.Leu4819=) c.14454G>T (p.Leu4818=) c.14439G>T (p.Leu4813=) c.14469G>T (p.Leu4823=) c.14385G>T (p.Leu4795=) | |
| 19 | g.38580090C>A | CA061313 | RYR1 | c.1409C>A c.2806C>A c.2778C>A c.14473C>A (p.Arg4825Ser) c.14458C>A (p.Arg4820Ser) c.14455C>A (p.Arg4819Ser) c.14440C>A (p.Arg4814Ser) c.14470C>A (p.Arg4824Ser) c.14386C>A (p.Arg4796Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580090C= | CA2335092295 | RYR1 | c.1409C= c.2806C= c.2778C= c.14473C= (p.Arg4825=) c.14458C= (p.Arg4820=) c.14455C= (p.Arg4819=) c.14440C= (p.Arg4814=) c.14470C= (p.Arg4824=) c.14386C= (p.Arg4796=) | |
| 19 | g.38580090C>G | CA405687306 | RYR1 | c.1409C>G c.2806C>G c.2778C>G c.14473C>G (p.Arg4825Gly) c.14458C>G (p.Arg4820Gly) c.14455C>G (p.Arg4819Gly) c.14440C>G (p.Arg4814Gly) c.14470C>G (p.Arg4824Gly) c.14386C>G (p.Arg4796Gly) | |
| 19 | g.38580090C>T | CA024150 | RYR1 | c.1409C>T c.2806C>T c.2778C>T c.14473C>T (p.Arg4825Cys) c.14458C>T (p.Arg4820Cys) c.14455C>T (p.Arg4819Cys) c.14440C>T (p.Arg4814Cys) c.14470C>T (p.Arg4824Cys) c.14386C>T (p.Arg4796Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38580091G>A | CA061315 | RYR1 | c.1410G>A c.2807G>A c.2779G>A c.14474G>A (p.Arg4825His) c.14459G>A (p.Arg4820His) c.14456G>A (p.Arg4819His) c.14441G>A (p.Arg4814His) c.14471G>A (p.Arg4824His) c.14387G>A (p.Arg4796His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38580091G>C | CA024152 | RYR1 | c.1410G>C c.2807G>C c.2779G>C c.14474G>C (p.Arg4825Pro) c.14459G>C (p.Arg4820Pro) c.14456G>C (p.Arg4819Pro) c.14441G>C (p.Arg4814Pro) c.14471G>C (p.Arg4824Pro) c.14387G>C (p.Arg4796Pro) | ClinVar dbSNP |
| 19 | g.38580091G= | CA2335092296 | RYR1 | c.1410G= c.2807G= c.2779G= c.14474G= (p.Arg4825=) c.14459G= (p.Arg4820=) c.14456G= (p.Arg4819=) c.14441G= (p.Arg4814=) c.14471G= (p.Arg4824=) c.14387G= (p.Arg4796=) | |
| 19 | g.38580091G>T | CA405687310 | RYR1 | c.1410G>T c.2807G>T c.2779G>T c.14474G>T (p.Arg4825Leu) c.14459G>T (p.Arg4820Leu) c.14456G>T (p.Arg4819Leu) c.14441G>T (p.Arg4814Leu) c.14471G>T (p.Arg4824Leu) c.14387G>T (p.Arg4796Leu) | COSMIC |
| 19 | g.38580092C>A | CA507356065 | RYR1 | c.1411C>A c.2808C>A c.2780C>A c.14475C>A (p.Arg4825=) c.14460C>A (p.Arg4820=) c.14457C>A (p.Arg4819=) c.14442C>A (p.Arg4814=) c.14472C>A (p.Arg4824=) c.14388C>A (p.Arg4796=) | |
| 19 | g.38580092C= | CA2335092297 | RYR1 | c.1411C= c.2808C= c.2780C= c.14475C= (p.Arg4825=) c.14460C= (p.Arg4820=) c.14457C= (p.Arg4819=) c.14442C= (p.Arg4814=) c.14472C= (p.Arg4824=) c.14388C= (p.Arg4796=) | |
| 19 | g.38580092C>G | CA507356066 | RYR1 | c.1411C>G c.2808C>G c.2780C>G c.14475C>G (p.Arg4825=) c.14460C>G (p.Arg4820=) c.14457C>G (p.Arg4819=) c.14442C>G (p.Arg4814=) c.14472C>G (p.Arg4824=) c.14388C>G (p.Arg4796=) | |
| 19 | g.38580092C>T | CA061319 | RYR1 | c.1411C>T c.2808C>T c.2780C>T c.14475C>T (p.Arg4825=) c.14460C>T (p.Arg4820=) c.14457C>T (p.Arg4819=) c.14442C>T (p.Arg4814=) c.14472C>T (p.Arg4824=) c.14388C>T (p.Arg4796=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38580093A= | CA2335092298 | RYR1 | c.1412A= c.2809A= c.2781A= c.14476A= (p.Thr4826=) c.14461A= (p.Thr4821=) c.14458A= (p.Thr4820=) c.14443A= (p.Thr4815=) c.14473A= (p.Thr4825=) c.14389A= (p.Thr4797=) | |
| 19 | g.38580093A>C | CA061320 | RYR1 | c.1412A>C c.2809A>C c.2781A>C c.14476A>C (p.Thr4826Pro) c.14461A>C (p.Thr4821Pro) c.14458A>C (p.Thr4820Pro) c.14443A>C (p.Thr4815Pro) c.14473A>C (p.Thr4825Pro) c.14389A>C (p.Thr4797Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38580093A>G | CA405687316 | RYR1 | c.1412A>G c.2809A>G c.2781A>G c.14476A>G (p.Thr4826Ala) c.14461A>G (p.Thr4821Ala) c.14458A>G (p.Thr4820Ala) c.14443A>G (p.Thr4815Ala) c.14473A>G (p.Thr4825Ala) c.14389A>G (p.Thr4797Ala) | |
| 19 | g.38580093A>T | CA405687318 | RYR1 | c.1412A>T c.2809A>T c.2781A>T c.14476A>T (p.Thr4826Ser) c.14461A>T (p.Thr4821Ser) c.14458A>T (p.Thr4820Ser) c.14443A>T (p.Thr4815Ser) c.14473A>T (p.Thr4825Ser) c.14389A>T (p.Thr4797Ser) | |
| 19 | g.38580094C>A | CA405687322 | RYR1 | c.1413C>A c.2810C>A c.2782C>A c.14477C>A (p.Thr4826Asn) c.14462C>A (p.Thr4821Asn) c.14459C>A (p.Thr4820Asn) c.14444C>A (p.Thr4815Asn) c.14474C>A (p.Thr4825Asn) c.14390C>A (p.Thr4797Asn) | |
| 19 | g.38580094C= | CA2335092299 | RYR1 | c.1413C= c.2810C= c.2782C= c.14477C= (p.Thr4826=) c.14462C= (p.Thr4821=) c.14459C= (p.Thr4820=) c.14444C= (p.Thr4815=) c.14474C= (p.Thr4825=) c.14390C= (p.Thr4797=) | |
| 19 | g.38580094C>G | CA405687324 | RYR1 | c.1413C>G c.2810C>G c.2782C>G c.14477C>G (p.Thr4826Ser) c.14462C>G (p.Thr4821Ser) c.14459C>G (p.Thr4820Ser) c.14444C>G (p.Thr4815Ser) c.14474C>G (p.Thr4825Ser) c.14390C>G (p.Thr4797Ser) | |
| 19 | g.38580094C>T | CA024154 | RYR1 | c.1413C>T c.2810C>T c.2782C>T c.14477C>T (p.Thr4826Ile) c.14462C>T (p.Thr4821Ile) c.14459C>T (p.Thr4820Ile) c.14444C>T (p.Thr4815Ile) c.14474C>T (p.Thr4825Ile) c.14390C>T (p.Thr4797Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38580095C>A | CA507356068 | RYR1 | c.1414C>A c.2811C>A c.2783C>A c.14478C>A (p.Thr4826=) c.14463C>A (p.Thr4821=) c.14460C>A (p.Thr4820=) c.14445C>A (p.Thr4815=) c.14475C>A (p.Thr4825=) c.14391C>A (p.Thr4797=) | |
| 19 | g.38580095C>G | CA507356067 | RYR1 | c.1414C>G c.2811C>G c.2783C>G c.14478C>G (p.Thr4826=) c.14463C>G (p.Thr4821=) c.14460C>G (p.Thr4820=) c.14445C>G (p.Thr4815=) c.14475C>G (p.Thr4825=) c.14391C>G (p.Thr4797=) | |
| 19 | g.38580095C>T | CA081233 | RYR1 | c.1414C>T c.2811C>T c.2783C>T c.14478C>T (p.Thr4826=) c.14463C>T (p.Thr4821=) c.14460C>T (p.Thr4820=) c.14445C>T (p.Thr4815=) c.14475C>T (p.Thr4825=) c.14391C>T (p.Thr4797=) | |
| 19 | g.38580096A>C | CA081234 | RYR1 | c.1415A>C c.2812A>C c.2784A>C c.14479A>C (p.Ile4827Leu) c.14464A>C (p.Ile4822Leu) c.14461A>C (p.Ile4821Leu) c.14446A>C (p.Ile4816Leu) c.14476A>C (p.Ile4826Leu) c.14392A>C (p.Ile4798Leu) | |
| 19 | g.38580096A>G | CA405687327 | RYR1 | c.1415A>G c.2812A>G c.2784A>G c.14479A>G (p.Ile4827Val) c.14464A>G (p.Ile4822Val) c.14461A>G (p.Ile4821Val) c.14446A>G (p.Ile4816Val) c.14476A>G (p.Ile4826Val) c.14392A>G (p.Ile4798Val) | gnomAD v4 |
| 19 | g.38580096A>T | CA405687330 | RYR1 | c.1415A>T c.2812A>T c.2784A>T c.14479A>T (p.Ile4827Phe) c.14464A>T (p.Ile4822Phe) c.14461A>T (p.Ile4821Phe) c.14446A>T (p.Ile4816Phe) c.14476A>T (p.Ile4826Phe) c.14392A>T (p.Ile4798Phe) | |
| 19 | g.38580097T>A | CA024156 | RYR1 | c.1416T>A c.2813T>A c.2785T>A c.14480T>A (p.Ile4827Asn) c.14465T>A (p.Ile4822Asn) c.14462T>A (p.Ile4821Asn) c.14447T>A (p.Ile4816Asn) c.14477T>A (p.Ile4826Asn) c.14393T>A (p.Ile4798Asn) | ClinVar dbSNP |
| 19 | g.38580097T>C | CA405687335 | RYR1 | c.1416T>C c.2813T>C c.2785T>C c.14480T>C (p.Ile4827Thr) c.14465T>C (p.Ile4822Thr) c.14462T>C (p.Ile4821Thr) c.14447T>C (p.Ile4816Thr) c.14477T>C (p.Ile4826Thr) c.14393T>C (p.Ile4798Thr) | |
| 19 | g.38580097T>G | CA405687337 | RYR1 | c.1416T>G c.2813T>G c.2785T>G c.14480T>G (p.Ile4827Ser) c.14465T>G (p.Ile4822Ser) c.14462T>G (p.Ile4821Ser) c.14447T>G (p.Ile4816Ser) c.14477T>G (p.Ile4826Ser) c.14393T>G (p.Ile4798Ser) | |
| 19 | g.38580097T= | CA2335092300 | RYR1 | c.1416T= c.2813T= c.2785T= c.14480T= (p.Ile4827=) c.14465T= (p.Ile4822=) c.14462T= (p.Ile4821=) c.14447T= (p.Ile4816=) c.14477T= (p.Ile4826=) c.14393T= (p.Ile4798=) | |
| 19 | g.38580098C>A | CA507356074 | RYR1 | c.1417C>A c.2814C>A c.2786C>A c.14481C>A (p.Ile4827=) c.14466C>A (p.Ile4822=) c.14463C>A (p.Ile4821=) c.14448C>A (p.Ile4816=) c.14478C>A (p.Ile4826=) c.14394C>A (p.Ile4798=) | |
| 19 | g.38580098C= | CA2335092301 | RYR1 | c.1417C= c.2814C= c.2786C= c.14481C= (p.Ile4827=) c.14466C= (p.Ile4822=) c.14463C= (p.Ile4821=) c.14448C= (p.Ile4816=) c.14478C= (p.Ile4826=) c.14394C= (p.Ile4798=) | |
| 19 | g.38580098C>G | CA405687338 | RYR1 | c.1417C>G c.2814C>G c.2786C>G c.14481C>G (p.Ile4827Met) c.14466C>G (p.Ile4822Met) c.14463C>G (p.Ile4821Met) c.14448C>G (p.Ile4816Met) c.14478C>G (p.Ile4826Met) c.14394C>G (p.Ile4798Met) | |
| 19 | g.38580098C>T | CA507356075 | RYR1 | c.1417C>T c.2814C>T c.2786C>T c.14481C>T (p.Ile4827=) c.14466C>T (p.Ile4822=) c.14463C>T (p.Ile4821=) c.14448C>T (p.Ile4816=) c.14478C>T (p.Ile4826=) c.14394C>T (p.Ile4798=) | dbSNP gnomAD v4 |
| 19 | g.38580099C>A | CA405687339 | RYR1 | c.1418C>A c.2815C>A c.2787C>A c.14482C>A (p.Leu4828Met) c.14467C>A (p.Leu4823Met) c.14464C>A (p.Leu4822Met) c.14449C>A (p.Leu4817Met) c.14479C>A (p.Leu4827Met) c.14395C>A (p.Leu4799Met) | |
| 19 | g.38580099C>G | CA405687340 | RYR1 | c.1418C>G c.2815C>G c.2787C>G c.14482C>G (p.Leu4828Val) c.14467C>G (p.Leu4823Val) c.14464C>G (p.Leu4822Val) c.14449C>G (p.Leu4817Val) c.14479C>G (p.Leu4827Val) c.14395C>G (p.Leu4799Val) | |
| 19 | g.38580099C>T | CA507356076 | RYR1 | c.1418C>T c.2815C>T c.2787C>T c.14482C>T (p.Leu4828=) c.14467C>T (p.Leu4823=) c.14464C>T (p.Leu4822=) c.14449C>T (p.Leu4817=) c.14479C>T (p.Leu4827=) c.14395C>T (p.Leu4799=) | |
| 19 | g.38580100T>A | CA405687342 | RYR1 | c.1419T>A c.2816T>A c.2788T>A c.14483T>A (p.Leu4828Gln) c.14468T>A (p.Leu4823Gln) c.14465T>A (p.Leu4822Gln) c.14450T>A (p.Leu4817Gln) c.14480T>A (p.Leu4827Gln) c.14396T>A (p.Leu4799Gln) | |
| 19 | g.38580100T>C | CA405687343 | RYR1 | c.1419T>C c.2816T>C c.2788T>C c.14483T>C (p.Leu4828Pro) c.14468T>C (p.Leu4823Pro) c.14465T>C (p.Leu4822Pro) c.14450T>C (p.Leu4817Pro) c.14480T>C (p.Leu4827Pro) c.14396T>C (p.Leu4799Pro) | |
| 19 | g.38580100T>G | CA405687341 | RYR1 | c.1419T>G c.2816T>G c.2788T>G c.14483T>G (p.Leu4828Arg) c.14468T>G (p.Leu4823Arg) c.14465T>G (p.Leu4822Arg) c.14450T>G (p.Leu4817Arg) c.14480T>G (p.Leu4827Arg) c.14396T>G (p.Leu4799Arg) | |
| 19 | g.38580101G>A | CA507356078 | RYR1 | c.1420G>A c.2817G>A c.2789G>A c.14484G>A (p.Leu4828=) c.14469G>A (p.Leu4823=) c.14466G>A (p.Leu4822=) c.14451G>A (p.Leu4817=) c.14481G>A (p.Leu4827=) c.14397G>A (p.Leu4799=) | |
| 19 | g.38580101G>C | CA507356079 | RYR1 | c.1420G>C c.2817G>C c.2789G>C c.14484G>C (p.Leu4828=) c.14469G>C (p.Leu4823=) c.14466G>C (p.Leu4822=) c.14451G>C (p.Leu4817=) c.14481G>C (p.Leu4827=) c.14397G>C (p.Leu4799=) | |
| 19 | g.38580101G>T | CA507356081 | RYR1 | c.1420G>T c.2817G>T c.2789G>T c.14484G>T (p.Leu4828=) c.14469G>T (p.Leu4823=) c.14466G>T (p.Leu4822=) c.14451G>T (p.Leu4817=) c.14481G>T (p.Leu4827=) c.14397G>T (p.Leu4799=) | |
| 19 | g.38580102T>A | CA405687352 | RYR1 | c.1421T>A c.2818T>A c.2790T>A c.14485T>A (p.Ser4829Thr) c.14470T>A (p.Ser4824Thr) c.14467T>A (p.Ser4823Thr) c.14452T>A (p.Ser4818Thr) c.14482T>A (p.Ser4828Thr) c.14398T>A (p.Ser4800Thr) | |
| 19 | g.38580102T>C | CA405687346 | RYR1 | c.1421T>C c.2818T>C c.2790T>C c.14485T>C (p.Ser4829Pro) c.14470T>C (p.Ser4824Pro) c.14467T>C (p.Ser4823Pro) c.14452T>C (p.Ser4818Pro) c.14482T>C (p.Ser4828Pro) c.14398T>C (p.Ser4800Pro) | |
| 19 | g.38580102T>G | CA405687351 | RYR1 | c.1421T>G c.2818T>G c.2790T>G c.14485T>G (p.Ser4829Ala) c.14470T>G (p.Ser4824Ala) c.14467T>G (p.Ser4823Ala) c.14452T>G (p.Ser4818Ala) c.14482T>G (p.Ser4828Ala) c.14398T>G (p.Ser4800Ala) | |
| 19 | g.38580103C>A | CA405687355 | RYR1 | c.1422C>A c.2819C>A c.2791C>A c.14486C>A (p.Ser4829Tyr) c.14471C>A (p.Ser4824Tyr) c.14468C>A (p.Ser4823Tyr) c.14453C>A (p.Ser4818Tyr) c.14483C>A (p.Ser4828Tyr) c.14399C>A (p.Ser4800Tyr) | |
| 19 | g.38580103C= | CA2335092302 | RYR1 | c.1422C= c.2819C= c.2791C= c.14486C= (p.Ser4829=) c.14471C= (p.Ser4824=) c.14468C= (p.Ser4823=) c.14453C= (p.Ser4818=) c.14483C= (p.Ser4828=) c.14399C= (p.Ser4800=) | |
| 19 | g.38580103C>G | CA405687358 | RYR1 | c.1422C>G c.2819C>G c.2791C>G c.14486C>G (p.Ser4829Cys) c.14471C>G (p.Ser4824Cys) c.14468C>G (p.Ser4823Cys) c.14453C>G (p.Ser4818Cys) c.14483C>G (p.Ser4828Cys) c.14399C>G (p.Ser4800Cys) | |
| 19 | g.38580103C>T | CA405687361 | RYR1 | c.1422C>T c.2819C>T c.2791C>T c.14486C>T (p.Ser4829Phe) c.14471C>T (p.Ser4824Phe) c.14468C>T (p.Ser4823Phe) c.14453C>T (p.Ser4818Phe) c.14483C>T (p.Ser4828Phe) c.14399C>T (p.Ser4800Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38580104C>A | CA507356084 | RYR1 | c.1423C>A c.2820C>A c.2792C>A c.14487C>A (p.Ser4829=) c.14472C>A (p.Ser4824=) c.14469C>A (p.Ser4823=) c.14454C>A (p.Ser4818=) c.14484C>A (p.Ser4828=) c.14400C>A (p.Ser4800=) | |
| 19 | g.38580104C= | CA2335092303 | RYR1 | c.1423C= c.2820C= c.2792C= c.14487C= (p.Ser4829=) c.14472C= (p.Ser4824=) c.14469C= (p.Ser4823=) c.14454C= (p.Ser4818=) c.14484C= (p.Ser4828=) c.14400C= (p.Ser4800=) | |
| 19 | g.38580104C>G | CA507356085 | RYR1 | c.1423C>G c.2820C>G c.2792C>G c.14487C>G (p.Ser4829=) c.14472C>G (p.Ser4824=) c.14469C>G (p.Ser4823=) c.14454C>G (p.Ser4818=) c.14484C>G (p.Ser4828=) c.14400C>G (p.Ser4800=) | |
| 19 | g.38580104C>T | CA507356086 | RYR1 | c.1423C>T c.2820C>T c.2792C>T c.14487C>T (p.Ser4829=) c.14472C>T (p.Ser4824=) c.14469C>T (p.Ser4823=) c.14454C>T (p.Ser4818=) c.14484C>T (p.Ser4828=) c.14400C>T (p.Ser4800=) | ClinVar gnomAD v4 |
| 19 | g.38580105T>A | CA405687366 | RYR1 | c.1424T>A c.2821T>A c.2793T>A c.14488T>A (p.Ser4830Thr) c.14473T>A (p.Ser4825Thr) c.14470T>A (p.Ser4824Thr) c.14455T>A (p.Ser4819Thr) c.14485T>A (p.Ser4829Thr) c.14401T>A (p.Ser4801Thr) | ClinVar dbSNP |
| 19 | g.38580105T>C | CA405687369 | RYR1 | c.1424T>C c.2821T>C c.2793T>C c.14488T>C (p.Ser4830Pro) c.14473T>C (p.Ser4825Pro) c.14470T>C (p.Ser4824Pro) c.14455T>C (p.Ser4819Pro) c.14485T>C (p.Ser4829Pro) c.14401T>C (p.Ser4801Pro) | ClinVar |
| 19 | g.38580105T>G | CA405687371 | RYR1 | c.1424T>G c.2821T>G c.2793T>G c.14488T>G (p.Ser4830Ala) c.14473T>G (p.Ser4825Ala) c.14470T>G (p.Ser4824Ala) c.14455T>G (p.Ser4819Ala) c.14485T>G (p.Ser4829Ala) c.14401T>G (p.Ser4801Ala) | |
| 19 | g.38580105T= | CA2335092304 | RYR1 | c.1424T= c.2821T= c.2793T= c.14488T= (p.Ser4830=) c.14473T= (p.Ser4825=) c.14470T= (p.Ser4824=) c.14455T= (p.Ser4819=) c.14485T= (p.Ser4829=) c.14401T= (p.Ser4801=) | |
| 19 | g.38580105_38580134dup | CA061321 | RYR1 | c.1424_1447+6dup c.2821_2844+6dup c.2793_2816+6dup c.14488_14511+6dup c.14473_14496+6dup c.14470_14493+6dup c.14455_14478+6dup c.14485_14508+6dup c.14401_14424+6dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38580106C>A | CA405687375 | RYR1 | c.1425C>A c.2822C>A c.2794C>A c.14489C>A (p.Ser4830Tyr) c.14474C>A (p.Ser4825Tyr) c.14471C>A (p.Ser4824Tyr) c.14456C>A (p.Ser4819Tyr) c.14486C>A (p.Ser4829Tyr) c.14402C>A (p.Ser4801Tyr) | ClinVar dbSNP |
| 19 | g.38580106C= | CA2335092305 | RYR1 | c.1425C= c.2822C= c.2794C= c.14489C= (p.Ser4830=) c.14474C= (p.Ser4825=) c.14471C= (p.Ser4824=) c.14456C= (p.Ser4819=) c.14486C= (p.Ser4829=) c.14402C= (p.Ser4801=) | |
| 19 | g.38580106C>G | CA405687378 | RYR1 | c.1425C>G c.2822C>G c.2794C>G c.14489C>G (p.Ser4830Cys) c.14474C>G (p.Ser4825Cys) c.14471C>G (p.Ser4824Cys) c.14456C>G (p.Ser4819Cys) c.14486C>G (p.Ser4829Cys) c.14402C>G (p.Ser4801Cys) | |
| 19 | g.38580106C>T | CA405687379 | RYR1 | c.1425C>T c.2822C>T c.2794C>T c.14489C>T (p.Ser4830Phe) c.14474C>T (p.Ser4825Phe) c.14471C>T (p.Ser4824Phe) c.14456C>T (p.Ser4819Phe) c.14486C>T (p.Ser4829Phe) c.14402C>T (p.Ser4801Phe) | |
| 19 | g.38580107T>A | CA507356089 | RYR1 | c.1426T>A c.2823T>A c.2795T>A c.14490T>A (p.Ser4830=) c.14475T>A (p.Ser4825=) c.14472T>A (p.Ser4824=) c.14457T>A (p.Ser4819=) c.14487T>A (p.Ser4829=) c.14403T>A (p.Ser4801=) | |
| 19 | g.38580107T>C | CA507356090 | RYR1 | c.1426T>C c.2823T>C c.2795T>C c.14490T>C (p.Ser4830=) c.14475T>C (p.Ser4825=) c.14472T>C (p.Ser4824=) c.14457T>C (p.Ser4819=) c.14487T>C (p.Ser4829=) c.14403T>C (p.Ser4801=) | |
| 19 | g.38580107T>G | CA507356091 | RYR1 | c.1426T>G c.2823T>G c.2795T>G c.14490T>G (p.Ser4830=) c.14475T>G (p.Ser4825=) c.14472T>G (p.Ser4824=) c.14457T>G (p.Ser4819=) c.14487T>G (p.Ser4829=) c.14403T>G (p.Ser4801=) | |
| 19 | g.38580107dup | CA2573054762 | RYR1 | c.1426dup c.2823dup c.2795dup c.14490dup (p.Val4831CysfsTer?) c.14475dup (p.Val4826CysfsTer?) c.14472dup (p.Val4825CysfsTer?) c.14457dup (p.Val4820CysfsTer?) c.14487dup (p.Val4830CysfsTer?) c.14403dup (p.Val4802CysfsTer?) | ClinVar dbSNP |
| 19 | g.38580107_38580108insTCTGTCACCCACAATGGGAAACAGGTGTGG | CA081235 | RYR1 | c.1426_1427insTCTGTCACCCACAATGGGAAACAGGTGTGG c.2823_2824insTCTGTCACCCACAATGGGAAACAGGTGTGG c.2795_2796insTCTGTCACCCACAATGGGAAACAGGTGTGG c.14490_14491insTCTGTCACCCACAATGGGAAACAGGTGTGG (p.Ser4830_Val4831insSerValThrHisAsnGlyLysGlnValTrp) c.14475_14476insTCTGTCACCCACAATGGGAAACAGGTGTGG (p.Ser4825_Val4826insSerValThrHisAsnGlyLysGlnValTrp) c.14472_14473insTCTGTCACCCACAATGGGAAACAGGTGTGG (p.Ser4824_Val4825insSerValThrHisAsnGlyLysGlnValTrp) c.14457_14458insTCTGTCACCCACAATGGGAAACAGGTGTGG (p.Ser4819_Val4820insSerValThrHisAsnGlyLysGlnValTrp) c.14487_14488insTCTGTCACCCACAATGGGAAACAGGTGTGG (p.Ser4829_Val4830insSerValThrHisAsnGlyLysGlnValTrp) c.14403_14404insTCTGTCACCCACAATGGGAAACAGGTGTGG (p.Ser4801_Val4802insSerValThrHisAsnGlyLysGlnValTrp) | |
| 19 | g.38580108G>A | CA405687381 | RYR1 | c.1427G>A c.2824G>A c.2796G>A c.14491G>A (p.Val4831Ile) c.14476G>A (p.Val4826Ile) c.14473G>A (p.Val4825Ile) c.14458G>A (p.Val4820Ile) c.14488G>A (p.Val4830Ile) c.14404G>A (p.Val4802Ile) | |
| 19 | g.38580108G>C | CA405687382 | RYR1 | c.1427G>C c.2824G>C c.2796G>C c.14491G>C (p.Val4831Leu) c.14476G>C (p.Val4826Leu) c.14473G>C (p.Val4825Leu) c.14458G>C (p.Val4820Leu) c.14488G>C (p.Val4830Leu) c.14404G>C (p.Val4802Leu) | |
| 19 | g.38580108G>T | CA405687380 | RYR1 | c.1427G>T c.2824G>T c.2796G>T c.14491G>T (p.Val4831Phe) c.14476G>T (p.Val4826Phe) c.14473G>T (p.Val4825Phe) c.14458G>T (p.Val4820Phe) c.14488G>T (p.Val4830Phe) c.14404G>T (p.Val4802Phe) | |
| 19 | g.38580109T>A | CA405687384 | RYR1 | c.1428T>A c.2825T>A c.2797T>A c.14492T>A (p.Val4831Asp) c.14477T>A (p.Val4826Asp) c.14474T>A (p.Val4825Asp) c.14459T>A (p.Val4820Asp) c.14489T>A (p.Val4830Asp) c.14405T>A (p.Val4802Asp) | |
| 19 | g.38580109T>C | CA405687385 | RYR1 | c.1428T>C c.2825T>C c.2797T>C c.14492T>C (p.Val4831Ala) c.14477T>C (p.Val4826Ala) c.14474T>C (p.Val4825Ala) c.14459T>C (p.Val4820Ala) c.14489T>C (p.Val4830Ala) c.14405T>C (p.Val4802Ala) | |
| 19 | g.38580109T>G | CA405687388 | RYR1 | c.1428T>G c.2825T>G c.2797T>G c.14492T>G (p.Val4831Gly) c.14477T>G (p.Val4826Gly) c.14474T>G (p.Val4825Gly) c.14459T>G (p.Val4820Gly) c.14489T>G (p.Val4830Gly) c.14405T>G (p.Val4802Gly) | |
| 19 | g.38580110C>A | CA507356093 | RYR1 | c.1429C>A c.2826C>A c.2798C>A c.14493C>A (p.Val4831=) c.14478C>A (p.Val4826=) c.14475C>A (p.Val4825=) c.14460C>A (p.Val4820=) c.14490C>A (p.Val4830=) c.14406C>A (p.Val4802=) | |
| 19 | g.38580110C>G | CA507356094 | RYR1 | c.1429C>G c.2826C>G c.2798C>G c.14493C>G (p.Val4831=) c.14478C>G (p.Val4826=) c.14475C>G (p.Val4825=) c.14460C>G (p.Val4820=) c.14490C>G (p.Val4830=) c.14406C>G (p.Val4802=) | |
| 19 | g.38580110C>T | CA507356096 | RYR1 | c.1429C>T c.2826C>T c.2798C>T c.14493C>T (p.Val4831=) c.14478C>T (p.Val4826=) c.14475C>T (p.Val4825=) c.14460C>T (p.Val4820=) c.14490C>T (p.Val4830=) c.14406C>T (p.Val4802=) | ClinVar |
| 19 | g.38580111A>C | CA405687391 | RYR1 | c.1430A>C c.2827A>C c.2799A>C c.14494A>C (p.Thr4832Pro) c.14479A>C (p.Thr4827Pro) c.14476A>C (p.Thr4826Pro) c.14461A>C (p.Thr4821Pro) c.14491A>C (p.Thr4831Pro) c.14407A>C (p.Thr4803Pro) | |
| 19 | g.38580111A>G | CA405687393 | RYR1 | c.1430A>G c.2827A>G c.2799A>G c.14494A>G (p.Thr4832Ala) c.14479A>G (p.Thr4827Ala) c.14476A>G (p.Thr4826Ala) c.14461A>G (p.Thr4821Ala) c.14491A>G (p.Thr4831Ala) c.14407A>G (p.Thr4803Ala) | |
| 19 | g.38580111A>T | CA405687395 | RYR1 | c.1430A>T c.2827A>T c.2799A>T c.14494A>T (p.Thr4832Ser) c.14479A>T (p.Thr4827Ser) c.14476A>T (p.Thr4826Ser) c.14461A>T (p.Thr4821Ser) c.14491A>T (p.Thr4831Ser) c.14407A>T (p.Thr4803Ser) | |
| 19 | g.38580112C>A | CA16607807 | RYR1 | c.1431C>A c.2828C>A c.2800C>A c.14495C>A (p.Thr4832Asn) c.14480C>A (p.Thr4827Asn) c.14477C>A (p.Thr4826Asn) c.14462C>A (p.Thr4821Asn) c.14492C>A (p.Thr4831Asn) c.14408C>A (p.Thr4803Asn) | ClinVar dbSNP |
| 19 | g.38580112C= | CA2335092306 | RYR1 | c.1431C= c.2828C= c.2800C= c.14495C= (p.Thr4832=) c.14480C= (p.Thr4827=) c.14477C= (p.Thr4826=) c.14462C= (p.Thr4821=) c.14492C= (p.Thr4831=) c.14408C= (p.Thr4803=) | |
| 19 | g.38580112C>G | CA405687400 | RYR1 | c.1431C>G c.2828C>G c.2800C>G c.14495C>G (p.Thr4832Ser) c.14480C>G (p.Thr4827Ser) c.14477C>G (p.Thr4826Ser) c.14462C>G (p.Thr4821Ser) c.14492C>G (p.Thr4831Ser) c.14408C>G (p.Thr4803Ser) | gnomAD v4 |
| 19 | g.38580112C>T | CA405687398 | RYR1 | c.1431C>T c.2828C>T c.2800C>T c.14495C>T (p.Thr4832Ile) c.14480C>T (p.Thr4827Ile) c.14477C>T (p.Thr4826Ile) c.14462C>T (p.Thr4821Ile) c.14492C>T (p.Thr4831Ile) c.14408C>T (p.Thr4803Ile) | |
| 19 | g.38580114del | CA2579758273 | RYR1 | c.1433del c.2830del c.2802del c.14497del (p.His4833ThrfsTer7) c.14482del (p.His4828ThrfsTer7) c.14479del (p.His4827ThrfsTer7) c.14464del (p.His4822ThrfsTer7) c.14494del (p.His4832ThrfsTer7) c.14410del (p.His4804ThrfsTer7) |