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 |
|---|---|---|---|---|---|
| 1 | g.237648486C>A | CA345398125 | RYR2 | c.7385C>A (p.Pro2462Gln) c.7337C>A (p.Pro2446Gln) c.7415C>A (p.Pro2472Gln) c.7412C>A (p.Pro2471Gln) c.7382C>A (p.Pro2461Gln) n.7696C>A c.7394C>A (p.Pro2465Gln) n.7729C>A | ClinVar dbSNP |
| 1 | g.237648486C= | CA2487426827 | RYR2 | c.7385C= (p.Pro2462=) c.7337C= (p.Pro2446=) c.7415C= (p.Pro2472=) c.7412C= (p.Pro2471=) c.7382C= (p.Pro2461=) n.7696C= c.7394C= (p.Pro2465=) n.7729C= | |
| 1 | g.237648486C>G | CA345398128 | RYR2 | c.7385C>G (p.Pro2462Arg) c.7337C>G (p.Pro2446Arg) c.7415C>G (p.Pro2472Arg) c.7412C>G (p.Pro2471Arg) c.7382C>G (p.Pro2461Arg) n.7696C>G c.7394C>G (p.Pro2465Arg) n.7729C>G | |
| 1 | g.237648486C>T | CA010694 | RYR2 | c.7385C>T (p.Pro2462Leu) c.7337C>T (p.Pro2446Leu) c.7415C>T (p.Pro2472Leu) c.7412C>T (p.Pro2471Leu) c.7382C>T (p.Pro2461Leu) n.7696C>T c.7394C>T (p.Pro2465Leu) n.7729C>T | ClinVar dbSNP |
| 1 | g.237648487A= | CA1145705491 | RYR2 | c.7386A= (p.Pro2462=) c.7338A= (p.Pro2446=) c.7416A= (p.Pro2472=) c.7413A= (p.Pro2471=) c.7383A= (p.Pro2461=) n.7697A= c.7395A= (p.Pro2465=) n.7730A= | |
| 1 | g.237648487A>C | CA423819699 | RYR2 | c.7386A>C (p.Pro2462=) c.7338A>C (p.Pro2446=) c.7416A>C (p.Pro2472=) c.7413A>C (p.Pro2471=) c.7383A>C (p.Pro2461=) n.7697A>C c.7395A>C (p.Pro2465=) n.7730A>C | |
| 1 | g.237648487A>G | CA087385 | RYR2 | c.7386A>G (p.Pro2462=) c.7338A>G (p.Pro2446=) c.7416A>G (p.Pro2472=) c.7413A>G (p.Pro2471=) c.7383A>G (p.Pro2461=) n.7697A>G c.7395A>G (p.Pro2465=) n.7730A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237648487A>T | CA423819698 | RYR2 | c.7386A>T (p.Pro2462=) c.7338A>T (p.Pro2446=) c.7416A>T (p.Pro2472=) c.7413A>T (p.Pro2471=) c.7383A>T (p.Pro2461=) n.7697A>T c.7395A>T (p.Pro2465=) n.7730A>T | |
| 1 | g.237648488G>A | CA345398130 | RYR2 | c.7387G>A (p.Asp2463Asn) c.7339G>A (p.Asp2447Asn) c.7417G>A (p.Asp2473Asn) c.7414G>A (p.Asp2472Asn) c.7384G>A (p.Asp2462Asn) n.7698G>A c.7396G>A (p.Asp2466Asn) n.7731G>A | |
| 1 | g.237648488G>C | CA345398131 | RYR2 | c.7387G>C (p.Asp2463His) c.7339G>C (p.Asp2447His) c.7417G>C (p.Asp2473His) c.7414G>C (p.Asp2472His) c.7384G>C (p.Asp2462His) n.7698G>C c.7396G>C (p.Asp2466His) n.7731G>C | |
| 1 | g.237648488G>T | CA345398133 | RYR2 | c.7387G>T (p.Asp2463Tyr) c.7339G>T (p.Asp2447Tyr) c.7417G>T (p.Asp2473Tyr) c.7414G>T (p.Asp2472Tyr) c.7384G>T (p.Asp2462Tyr) n.7698G>T c.7396G>T (p.Asp2466Tyr) n.7731G>T | |
| 1 | g.237648489A>C | CA345398135 | RYR2 | c.7388A>C (p.Asp2463Ala) c.7340A>C (p.Asp2447Ala) c.7418A>C (p.Asp2473Ala) c.7415A>C (p.Asp2472Ala) c.7385A>C (p.Asp2462Ala) n.7699A>C c.7397A>C (p.Asp2466Ala) n.7732A>C | |
| 1 | g.237648489A>G | CA345398136 | RYR2 | c.7388A>G (p.Asp2463Gly) c.7340A>G (p.Asp2447Gly) c.7418A>G (p.Asp2473Gly) c.7415A>G (p.Asp2472Gly) c.7385A>G (p.Asp2462Gly) n.7699A>G c.7397A>G (p.Asp2466Gly) n.7732A>G | |
| 1 | g.237648489A>T | CA075757 | RYR2 | c.7388A>T (p.Asp2463Val) c.7340A>T (p.Asp2447Val) c.7418A>T (p.Asp2473Val) c.7415A>T (p.Asp2472Val) c.7385A>T (p.Asp2462Val) n.7699A>T c.7397A>T (p.Asp2466Val) n.7732A>T | |
| 1 | g.237648490T>A | CA345398137 | RYR2 | c.7389T>A (p.Asp2463Glu) c.7341T>A (p.Asp2447Glu) c.7419T>A (p.Asp2473Glu) c.7416T>A (p.Asp2472Glu) c.7386T>A (p.Asp2462Glu) n.7700T>A c.7398T>A (p.Asp2466Glu) n.7733T>A | |
| 1 | g.237648490T>C | CA423819700 | RYR2 | c.7389T>C (p.Asp2463=) c.7341T>C (p.Asp2447=) c.7419T>C (p.Asp2473=) c.7416T>C (p.Asp2472=) c.7386T>C (p.Asp2462=) n.7700T>C c.7398T>C (p.Asp2466=) n.7733T>C | |
| 1 | g.237648490T>G | CA345398139 | RYR2 | c.7389T>G (p.Asp2463Glu) c.7341T>G (p.Asp2447Glu) c.7419T>G (p.Asp2473Glu) c.7416T>G (p.Asp2472Glu) c.7386T>G (p.Asp2462Glu) n.7700T>G c.7398T>G (p.Asp2466Glu) n.7733T>G | |
| 1 | g.237648491C>A | CA345398141 | RYR2 | c.7390C>A (p.His2464Asn) c.7342C>A (p.His2448Asn) c.7420C>A (p.His2474Asn) c.7417C>A (p.His2473Asn) c.7387C>A (p.His2463Asn) n.7701C>A c.7399C>A (p.His2467Asn) n.7734C>A | |
| 1 | g.237648491C= | CA2487426828 | RYR2 | c.7390C= (p.His2464=) c.7342C= (p.His2448=) c.7420C= (p.His2474=) c.7417C= (p.His2473=) c.7387C= (p.His2463=) n.7701C= c.7399C= (p.His2467=) n.7734C= | |
| 1 | g.237648491C>G | CA345398143 | RYR2 | c.7390C>G (p.His2464Asp) c.7342C>G (p.His2448Asp) c.7420C>G (p.His2474Asp) c.7417C>G (p.His2473Asp) c.7387C>G (p.His2463Asp) n.7701C>G c.7399C>G (p.His2467Asp) n.7734C>G | ClinVar dbSNP |
| 1 | g.237648491C>T | CA345398144 | RYR2 | c.7390C>T (p.His2464Tyr) c.7342C>T (p.His2448Tyr) c.7420C>T (p.His2474Tyr) c.7417C>T (p.His2473Tyr) c.7387C>T (p.His2463Tyr) n.7701C>T c.7399C>T (p.His2467Tyr) n.7734C>T | |
| 1 | g.237648492A= | CA2487426829 | RYR2 | c.7391A= (p.His2464=) c.7343A= (p.His2448=) c.7421A= (p.His2474=) c.7418A= (p.His2473=) c.7388A= (p.His2463=) n.7702A= c.7400A= (p.His2467=) n.7735A= | |
| 1 | g.237648492A>C | CA345398147 | RYR2 | c.7391A>C (p.His2464Pro) c.7343A>C (p.His2448Pro) c.7421A>C (p.His2474Pro) c.7418A>C (p.His2473Pro) c.7388A>C (p.His2463Pro) n.7702A>C c.7400A>C (p.His2467Pro) n.7735A>C | COSMIC |
| 1 | g.237648492A>G | CA345398149 | RYR2 | c.7391A>G (p.His2464Arg) c.7343A>G (p.His2448Arg) c.7421A>G (p.His2474Arg) c.7418A>G (p.His2473Arg) c.7388A>G (p.His2463Arg) n.7702A>G c.7400A>G (p.His2467Arg) n.7735A>G | ClinVar dbSNP |
| 1 | g.237648492A>T | CA345398146 | RYR2 | c.7391A>T (p.His2464Leu) c.7343A>T (p.His2448Leu) c.7421A>T (p.His2474Leu) c.7418A>T (p.His2473Leu) c.7388A>T (p.His2463Leu) n.7702A>T c.7400A>T (p.His2467Leu) n.7735A>T | |
| 1 | g.237648493C>A | CA345398151 | RYR2 | c.7392C>A (p.His2464Gln) c.7344C>A (p.His2448Gln) c.7422C>A (p.His2474Gln) c.7419C>A (p.His2473Gln) c.7389C>A (p.His2463Gln) n.7703C>A c.7401C>A (p.His2467Gln) n.7736C>A | |
| 1 | g.237648493C>G | CA345398153 | RYR2 | c.7392C>G (p.His2464Gln) c.7344C>G (p.His2448Gln) c.7422C>G (p.His2474Gln) c.7419C>G (p.His2473Gln) c.7389C>G (p.His2463Gln) n.7703C>G c.7401C>G (p.His2467Gln) n.7736C>G | |
| 1 | g.237648493C>T | CA423819701 | RYR2 | c.7392C>T (p.His2464=) c.7344C>T (p.His2448=) c.7422C>T (p.His2474=) c.7419C>T (p.His2473=) c.7389C>T (p.His2463=) n.7703C>T c.7401C>T (p.His2467=) n.7736C>T | |
| 1 | g.237648494A>C | CA345398155 | RYR2 | c.7393A>C (p.Lys2465Gln) c.7345A>C (p.Lys2449Gln) c.7423A>C (p.Lys2475Gln) c.7420A>C (p.Lys2474Gln) c.7390A>C (p.Lys2464Gln) n.7704A>C c.7402A>C (p.Lys2468Gln) n.7737A>C | |
| 1 | g.237648494A>G | CA345398157 | RYR2 | c.7393A>G (p.Lys2465Glu) c.7345A>G (p.Lys2449Glu) c.7423A>G (p.Lys2475Glu) c.7420A>G (p.Lys2474Glu) c.7390A>G (p.Lys2464Glu) n.7704A>G c.7402A>G (p.Lys2468Glu) n.7737A>G | |
| 1 | g.237648494A>T | CA345398159 | RYR2 | c.7393A>T (p.Lys2465Ter) c.7345A>T (p.Lys2449Ter) c.7423A>T (p.Lys2475Ter) c.7420A>T (p.Lys2474Ter) c.7390A>T (p.Lys2464Ter) n.7704A>T c.7402A>T (p.Lys2468Ter) n.7737A>T | |
| 1 | g.237648495A>C | CA345398164 | RYR2 | c.7394A>C (p.Lys2465Thr) c.7346A>C (p.Lys2449Thr) c.7424A>C (p.Lys2475Thr) c.7421A>C (p.Lys2474Thr) c.7391A>C (p.Lys2464Thr) n.7705A>C c.7403A>C (p.Lys2468Thr) n.7738A>C | |
| 1 | g.237648495A>G | CA345398161 | RYR2 | c.7394A>G (p.Lys2465Arg) c.7346A>G (p.Lys2449Arg) c.7424A>G (p.Lys2475Arg) c.7421A>G (p.Lys2474Arg) c.7391A>G (p.Lys2464Arg) n.7705A>G c.7403A>G (p.Lys2468Arg) n.7738A>G | COSMIC |
| 1 | g.237648495A>T | CA345398163 | RYR2 | c.7394A>T (p.Lys2465Met) c.7346A>T (p.Lys2449Met) c.7424A>T (p.Lys2475Met) c.7421A>T (p.Lys2474Met) c.7391A>T (p.Lys2464Met) n.7705A>T c.7403A>T (p.Lys2468Met) n.7738A>T | |
| 1 | g.237648496G>A | CA423819702 | RYR2 | c.7395G>A (p.Lys2465=) c.7347G>A (p.Lys2449=) c.7425G>A (p.Lys2475=) c.7422G>A (p.Lys2474=) c.7392G>A (p.Lys2464=) n.7706G>A c.7404G>A (p.Lys2468=) n.7739G>A | |
| 1 | g.237648496G>C | CA345398165 | RYR2 | c.7395G>C (p.Lys2465Asn) c.7347G>C (p.Lys2449Asn) c.7425G>C (p.Lys2475Asn) c.7422G>C (p.Lys2474Asn) c.7392G>C (p.Lys2464Asn) n.7706G>C c.7404G>C (p.Lys2468Asn) n.7739G>C | |
| 1 | g.237648496G>T | CA345398167 | RYR2 | c.7395G>T (p.Lys2465Asn) c.7347G>T (p.Lys2449Asn) c.7425G>T (p.Lys2475Asn) c.7422G>T (p.Lys2474Asn) c.7392G>T (p.Lys2464Asn) n.7706G>T c.7404G>T (p.Lys2468Asn) n.7739G>T | |
| 1 | g.237648497G>A | CA075777 | RYR2 | c.7396G>A (p.Ala2466Thr) c.7348G>A (p.Ala2450Thr) c.7426G>A (p.Ala2476Thr) c.7423G>A (p.Ala2475Thr) c.7393G>A (p.Ala2465Thr) n.7707G>A c.7405G>A (p.Ala2469Thr) n.7740G>A | gnomAD v4 |
| 1 | g.237648497G>C | CA345398170 | RYR2 | c.7396G>C (p.Ala2466Pro) c.7348G>C (p.Ala2450Pro) c.7426G>C (p.Ala2476Pro) c.7423G>C (p.Ala2475Pro) c.7393G>C (p.Ala2465Pro) n.7707G>C c.7405G>C (p.Ala2469Pro) n.7740G>C | |
| 1 | g.237648497G>T | CA345398171 | RYR2 | c.7396G>T (p.Ala2466Ser) c.7348G>T (p.Ala2450Ser) c.7426G>T (p.Ala2476Ser) c.7423G>T (p.Ala2475Ser) c.7393G>T (p.Ala2465Ser) n.7707G>T c.7405G>T (p.Ala2469Ser) n.7740G>T | gnomAD v4 |
| 1 | g.237648498C>A | CA345398174 | RYR2 | c.7397C>A (p.Ala2466Glu) c.7349C>A (p.Ala2450Glu) c.7427C>A (p.Ala2476Glu) c.7424C>A (p.Ala2475Glu) c.7394C>A (p.Ala2465Glu) n.7708C>A c.7406C>A (p.Ala2469Glu) n.7741C>A | |
| 1 | g.237648498C>G | CA345398177 | RYR2 | c.7397C>G (p.Ala2466Gly) c.7349C>G (p.Ala2450Gly) c.7427C>G (p.Ala2476Gly) c.7424C>G (p.Ala2475Gly) c.7394C>G (p.Ala2465Gly) n.7708C>G c.7406C>G (p.Ala2469Gly) n.7741C>G | |
| 1 | g.237648498C>T | CA345398176 | RYR2 | c.7397C>T (p.Ala2466Val) c.7349C>T (p.Ala2450Val) c.7427C>T (p.Ala2476Val) c.7424C>T (p.Ala2475Val) c.7394C>T (p.Ala2465Val) n.7708C>T c.7406C>T (p.Ala2469Val) n.7741C>T | gnomAD v4 |
| 1 | g.237648499A= | CA2487426830 | RYR2 | c.7398A= (p.Ala2466=) c.7350A= (p.Ala2450=) c.7428A= (p.Ala2476=) c.7425A= (p.Ala2475=) c.7395A= (p.Ala2465=) n.7709A= c.7407A= (p.Ala2469=) n.7742A= | |
| 1 | g.237648499A>C | CA423819703 | RYR2 | c.7398A>C (p.Ala2466=) c.7350A>C (p.Ala2450=) c.7428A>C (p.Ala2476=) c.7425A>C (p.Ala2475=) c.7395A>C (p.Ala2465=) n.7709A>C c.7407A>C (p.Ala2469=) n.7742A>C | |
| 1 | g.237648499A>G | CA423819704 | RYR2 | c.7398A>G (p.Ala2466=) c.7350A>G (p.Ala2450=) c.7428A>G (p.Ala2476=) c.7425A>G (p.Ala2475=) c.7395A>G (p.Ala2465=) n.7709A>G c.7407A>G (p.Ala2469=) n.7742A>G | dbSNP |
| 1 | g.237648499A>T | CA423819705 | RYR2 | c.7398A>T (p.Ala2466=) c.7350A>T (p.Ala2450=) c.7428A>T (p.Ala2476=) c.7425A>T (p.Ala2475=) c.7395A>T (p.Ala2465=) n.7709A>T c.7407A>T (p.Ala2469=) n.7742A>T | dbSNP |
| 1 | g.237648500G>A | CA345398178 | RYR2 | c.7399G>A (p.Ala2467Thr) c.7351G>A (p.Ala2451Thr) c.7429G>A (p.Ala2477Thr) c.7426G>A (p.Ala2476Thr) c.7396G>A (p.Ala2466Thr) n.7710G>A c.7408G>A (p.Ala2470Thr) n.7743G>A | |
| 1 | g.237648500G>C | CA345398183 | RYR2 | c.7399G>C (p.Ala2467Pro) c.7351G>C (p.Ala2451Pro) c.7429G>C (p.Ala2477Pro) c.7426G>C (p.Ala2476Pro) c.7396G>C (p.Ala2466Pro) n.7710G>C c.7408G>C (p.Ala2470Pro) n.7743G>C | |
| 1 | g.237648500G>T | CA345398181 | RYR2 | c.7399G>T (p.Ala2467Ser) c.7351G>T (p.Ala2451Ser) c.7429G>T (p.Ala2477Ser) c.7426G>T (p.Ala2476Ser) c.7396G>T (p.Ala2466Ser) n.7710G>T c.7408G>T (p.Ala2470Ser) n.7743G>T | gnomAD v4 |