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.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=) |