WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |