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.237678090A= | CA1140547554 | RYR2 | c.8831-2366A= (n.8831-2366A=) c.8873A= (p.Gln2958=) c.1062A= c.8825A= (p.Gln2942=) n.84-2366A= c.8903A= (p.Gln2968=) c.8900A= (p.Gln2967=) c.8860+3244A= (n.8860+3244A=) c.8870A= (p.Gln2957=) n.9184A= c.8882A= (p.Gln2961=) n.9217A= | |
| 1 | g.237678090A>C | CA345403673 | RYR2 | c.8831-2366A>C (n.8831-2366A>C) c.8873A>C (p.Gln2958Pro) c.1062A>C c.8825A>C (p.Gln2942Pro) n.84-2366A>C c.8903A>C (p.Gln2968Pro) c.8900A>C (p.Gln2967Pro) c.8860+3244A>C (n.8860+3244A>C) c.8870A>C (p.Gln2957Pro) n.9184A>C c.8882A>C (p.Gln2961Pro) n.9217A>C | |
| 1 | g.237678090A>G | CA011083 | RYR2 | c.8831-2366A>G (n.8831-2366A>G) c.8873A>G (p.Gln2958Arg) c.1062A>G c.8825A>G (p.Gln2942Arg) n.84-2366A>G c.8903A>G (p.Gln2968Arg) c.8900A>G (p.Gln2967Arg) c.8860+3244A>G (n.8860+3244A>G) c.8870A>G (p.Gln2957Arg) n.9184A>G c.8882A>G (p.Gln2961Arg) n.9217A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237678090A>T | CA345403674 | RYR2 | c.8831-2366A>T (n.8831-2366A>T) c.8873A>T (p.Gln2958Leu) c.1062A>T c.8825A>T (p.Gln2942Leu) n.84-2366A>T c.8903A>T (p.Gln2968Leu) c.8900A>T (p.Gln2967Leu) c.8860+3244A>T (n.8860+3244A>T) c.8870A>T (p.Gln2957Leu) n.9184A>T c.8882A>T (p.Gln2961Leu) n.9217A>T | |
| 1 | g.237678091A= | CA1149057984 | RYR2 | c.8831-2365A= (n.8831-2365A=) c.8874A= (p.Gln2958=) c.1063A= c.8826A= (p.Gln2942=) n.84-2365A= c.8904A= (p.Gln2968=) c.8901A= (p.Gln2967=) c.8860+3245A= (n.8860+3245A=) c.8871A= (p.Gln2957=) n.9185A= c.8883A= (p.Gln2961=) n.9218A= | |
| 1 | g.237678091A>C | CA345403676 | RYR2 | c.8831-2365A>C (n.8831-2365A>C) c.8874A>C (p.Gln2958His) c.1063A>C c.8826A>C (p.Gln2942His) n.84-2365A>C c.8904A>C (p.Gln2968His) c.8901A>C (p.Gln2967His) c.8860+3245A>C (n.8860+3245A>C) c.8871A>C (p.Gln2957His) n.9185A>C c.8883A>C (p.Gln2961His) n.9218A>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237678091A>G | CA423821648 | RYR2 | c.8831-2365A>G (n.8831-2365A>G) c.8874A>G (p.Gln2958=) c.1063A>G c.8826A>G (p.Gln2942=) n.84-2365A>G c.8904A>G (p.Gln2968=) c.8901A>G (p.Gln2967=) c.8860+3245A>G (n.8860+3245A>G) c.8871A>G (p.Gln2957=) n.9185A>G c.8883A>G (p.Gln2961=) n.9218A>G | |
| 1 | g.237678091A>T | CA087754 | RYR2 | c.8831-2365A>T (n.8831-2365A>T) c.8874A>T (p.Gln2958His) c.1063A>T c.8826A>T (p.Gln2942His) n.84-2365A>T c.8904A>T (p.Gln2968His) c.8901A>T (p.Gln2967His) c.8860+3245A>T (n.8860+3245A>T) c.8871A>T (p.Gln2957His) n.9185A>T c.8883A>T (p.Gln2961His) n.9218A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237678092G>A | CA345403679 | RYR2 | c.8831-2364G>A (n.8831-2364G>A) c.8875G>A (p.Glu2959Lys) c.1064G>A c.8827G>A (p.Glu2943Lys) n.84-2364G>A c.8905G>A (p.Glu2969Lys) c.8902G>A (p.Glu2968Lys) c.8860+3246G>A (n.8860+3246G>A) c.8872G>A (p.Glu2958Lys) n.9186G>A c.8884G>A (p.Glu2962Lys) n.9219G>A | |
| 1 | g.237678092G>C | CA076520 | RYR2 | c.8831-2364G>C (n.8831-2364G>C) c.8875G>C (p.Glu2959Gln) c.1064G>C c.8827G>C (p.Glu2943Gln) n.84-2364G>C c.8905G>C (p.Glu2969Gln) c.8902G>C (p.Glu2968Gln) c.8860+3246G>C (n.8860+3246G>C) c.8872G>C (p.Glu2958Gln) n.9186G>C c.8884G>C (p.Glu2962Gln) n.9219G>C | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.237678092G= | CA2487439298 | RYR2 | c.8831-2364G= (n.8831-2364G=) c.8875G= (p.Glu2959=) c.1064G= c.8827G= (p.Glu2943=) n.84-2364G= c.8905G= (p.Glu2969=) c.8902G= (p.Glu2968=) c.8860+3246G= (n.8860+3246G=) c.8872G= (p.Glu2958=) n.9186G= c.8884G= (p.Glu2962=) n.9219G= | |
| 1 | g.237678092G>T | CA345403680 | RYR2 | c.8831-2364G>T (n.8831-2364G>T) c.8875G>T (p.Glu2959Ter) c.1064G>T c.8827G>T (p.Glu2943Ter) n.84-2364G>T c.8905G>T (p.Glu2969Ter) c.8902G>T (p.Glu2968Ter) c.8860+3246G>T (n.8860+3246G>T) c.8872G>T (p.Glu2958Ter) n.9186G>T c.8884G>T (p.Glu2962Ter) n.9219G>T | COSMIC COSMIC |
| 1 | g.237678093A= | CA1144904239 | RYR2 | c.8831-2363A= (n.8831-2363A=) c.8876A= (p.Glu2959=) c.1065A= c.8828A= (p.Glu2943=) n.84-2363A= c.8906A= (p.Glu2969=) c.8903A= (p.Glu2968=) c.8860+3247A= (n.8860+3247A=) c.8873A= (p.Glu2958=) n.9187A= c.8885A= (p.Glu2962=) n.9220A= | |
| 1 | g.237678093A>C | CA087756 | RYR2 | c.8831-2363A>C (n.8831-2363A>C) c.8876A>C (p.Glu2959Ala) c.1065A>C c.8828A>C (p.Glu2943Ala) n.84-2363A>C c.8906A>C (p.Glu2969Ala) c.8903A>C (p.Glu2968Ala) c.8860+3247A>C (n.8860+3247A>C) c.8873A>C (p.Glu2958Ala) n.9187A>C c.8885A>C (p.Glu2962Ala) n.9220A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237678093A>G | CA345403685 | RYR2 | c.8831-2363A>G (n.8831-2363A>G) c.8876A>G (p.Glu2959Gly) c.1065A>G c.8828A>G (p.Glu2943Gly) n.84-2363A>G c.8906A>G (p.Glu2969Gly) c.8903A>G (p.Glu2968Gly) c.8860+3247A>G (n.8860+3247A>G) c.8873A>G (p.Glu2958Gly) n.9187A>G c.8885A>G (p.Glu2962Gly) n.9220A>G | |
| 1 | g.237678093A>T | CA345403683 | RYR2 | c.8831-2363A>T (n.8831-2363A>T) c.8876A>T (p.Glu2959Val) c.1065A>T c.8828A>T (p.Glu2943Val) n.84-2363A>T c.8906A>T (p.Glu2969Val) c.8903A>T (p.Glu2968Val) c.8860+3247A>T (n.8860+3247A>T) c.8873A>T (p.Glu2958Val) n.9187A>T c.8885A>T (p.Glu2962Val) n.9220A>T | |
| 1 | g.237678094A= | CA2487439299 | RYR2 | c.8831-2362A= (n.8831-2362A=) c.8877A= (p.Glu2959=) c.1066A= c.8829A= (p.Glu2943=) n.84-2362A= c.8907A= (p.Glu2969=) c.8904A= (p.Glu2968=) c.8860+3248A= (n.8860+3248A=) c.8874A= (p.Glu2958=) n.9188A= c.8886A= (p.Glu2962=) n.9221A= | |
| 1 | g.237678094A>C | CA345403686 | RYR2 | c.8831-2362A>C (n.8831-2362A>C) c.8877A>C (p.Glu2959Asp) c.1066A>C c.8829A>C (p.Glu2943Asp) n.84-2362A>C c.8907A>C (p.Glu2969Asp) c.8904A>C (p.Glu2968Asp) c.8860+3248A>C (n.8860+3248A>C) c.8874A>C (p.Glu2958Asp) n.9188A>C c.8886A>C (p.Glu2962Asp) n.9221A>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237678094A>G | CA423821649 | RYR2 | c.8831-2362A>G (n.8831-2362A>G) c.8877A>G (p.Glu2959=) c.1066A>G c.8829A>G (p.Glu2943=) n.84-2362A>G c.8907A>G (p.Glu2969=) c.8904A>G (p.Glu2968=) c.8860+3248A>G (n.8860+3248A>G) c.8874A>G (p.Glu2958=) n.9188A>G c.8886A>G (p.Glu2962=) n.9221A>G | gnomAD v4 |
| 1 | g.237678094A>T | CA345403688 | RYR2 | c.8831-2362A>T (n.8831-2362A>T) c.8877A>T (p.Glu2959Asp) c.1066A>T c.8829A>T (p.Glu2943Asp) n.84-2362A>T c.8907A>T (p.Glu2969Asp) c.8904A>T (p.Glu2968Asp) c.8860+3248A>T (n.8860+3248A>T) c.8874A>T (p.Glu2958Asp) n.9188A>T c.8886A>T (p.Glu2962Asp) n.9221A>T | gnomAD v4 |
| 1 | g.237678095A>C | CA345403690 | RYR2 | c.8831-2361A>C (n.8831-2361A>C) c.8878A>C (p.Ile2960Leu) c.1067A>C c.8830A>C (p.Ile2944Leu) n.84-2361A>C c.8908A>C (p.Ile2970Leu) c.8905A>C (p.Ile2969Leu) c.8860+3249A>C (n.8860+3249A>C) c.8875A>C (p.Ile2959Leu) n.9189A>C c.8887A>C (p.Ile2963Leu) n.9222A>C | |
| 1 | g.237678095A>G | CA345403691 | RYR2 | c.8831-2361A>G (n.8831-2361A>G) c.8878A>G (p.Ile2960Val) c.1067A>G c.8830A>G (p.Ile2944Val) n.84-2361A>G c.8908A>G (p.Ile2970Val) c.8905A>G (p.Ile2969Val) c.8860+3249A>G (n.8860+3249A>G) c.8875A>G (p.Ile2959Val) n.9189A>G c.8887A>G (p.Ile2963Val) n.9222A>G | |
| 1 | g.237678095A>T | CA345403692 | RYR2 | c.8831-2361A>T (n.8831-2361A>T) c.8878A>T (p.Ile2960Phe) c.1067A>T c.8830A>T (p.Ile2944Phe) n.84-2361A>T c.8908A>T (p.Ile2970Phe) c.8905A>T (p.Ile2969Phe) c.8860+3249A>T (n.8860+3249A>T) c.8875A>T (p.Ile2959Phe) n.9189A>T c.8887A>T (p.Ile2963Phe) n.9222A>T | |
| 1 | g.237678096T>A | CA16610044 | RYR2 | c.8831-2360T>A (n.8831-2360T>A) c.8879T>A (p.Ile2960Asn) c.1068T>A c.8831T>A (p.Ile2944Asn) n.84-2360T>A c.8909T>A (p.Ile2970Asn) c.8906T>A (p.Ile2969Asn) c.8860+3250T>A (n.8860+3250T>A) c.8876T>A (p.Ile2959Asn) n.9190T>A c.8888T>A (p.Ile2963Asn) n.9223T>A | ClinVar dbSNP gnomAD v4 |
| 1 | g.237678096T>C | CA087757 | RYR2 | c.8831-2360T>C (n.8831-2360T>C) c.8879T>C (p.Ile2960Thr) c.1068T>C c.8831T>C (p.Ile2944Thr) n.84-2360T>C c.8909T>C (p.Ile2970Thr) c.8906T>C (p.Ile2969Thr) c.8860+3250T>C (n.8860+3250T>C) c.8876T>C (p.Ile2959Thr) n.9190T>C c.8888T>C (p.Ile2963Thr) n.9223T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237678096T>G | CA345403695 | RYR2 | c.8831-2360T>G (n.8831-2360T>G) c.8879T>G (p.Ile2960Ser) c.1068T>G c.8831T>G (p.Ile2944Ser) n.84-2360T>G c.8909T>G (p.Ile2970Ser) c.8906T>G (p.Ile2969Ser) c.8860+3250T>G (n.8860+3250T>G) c.8876T>G (p.Ile2959Ser) n.9190T>G c.8888T>G (p.Ile2963Ser) n.9223T>G | |
| 1 | g.237678096T= | CA2487439300 | RYR2 | c.8831-2360T= (n.8831-2360T=) c.8879T= (p.Ile2960=) c.1068T= c.8831T= (p.Ile2944=) n.84-2360T= c.8909T= (p.Ile2970=) c.8906T= (p.Ile2969=) c.8860+3250T= (n.8860+3250T=) c.8876T= (p.Ile2959=) n.9190T= c.8888T= (p.Ile2963=) n.9223T= | |
| 1 | g.237678097del | CA2574458074 | RYR2 | c.8831-2359del (n.8831-2359del) c.8880del (p.Lys2961SerfsTer10) c.1069del c.8832del (p.Lys2945SerfsTer10) n.84-2359del c.8910del (p.Lys2971SerfsTer10) c.8907del (p.Lys2970SerfsTer10) c.8860+3251del (n.8860+3251del) c.8877del (p.Lys2960SerfsTer10) n.9191del c.8889del (p.Lys2964SerfsTer10) n.9224del | |
| 1 | g.237678097C>A | CA423821650 | RYR2 | c.8831-2359C>A (n.8831-2359C>A) c.8880C>A (p.Ile2960=) c.1069C>A c.8832C>A (p.Ile2944=) n.84-2359C>A c.8910C>A (p.Ile2970=) c.8907C>A (p.Ile2969=) c.8860+3251C>A (n.8860+3251C>A) c.8877C>A (p.Ile2959=) n.9191C>A c.8889C>A (p.Ile2963=) n.9224C>A | gnomAD v4 |
| 1 | g.237678097C= | CA2487439301 | RYR2 | c.8831-2359C= (n.8831-2359C=) c.8880C= (p.Ile2960=) c.1069C= c.8832C= (p.Ile2944=) n.84-2359C= c.8910C= (p.Ile2970=) c.8907C= (p.Ile2969=) c.8860+3251C= (n.8860+3251C=) c.8877C= (p.Ile2959=) n.9191C= c.8889C= (p.Ile2963=) n.9224C= | |
| 1 | g.237678097C>G | CA345403696 | RYR2 | c.8831-2359C>G (n.8831-2359C>G) c.8880C>G (p.Ile2960Met) c.1069C>G c.8832C>G (p.Ile2944Met) n.84-2359C>G c.8910C>G (p.Ile2970Met) c.8907C>G (p.Ile2969Met) c.8860+3251C>G (n.8860+3251C>G) c.8877C>G (p.Ile2959Met) n.9191C>G c.8889C>G (p.Ile2963Met) n.9224C>G | ClinVar |
| 1 | g.237678097C>T | CA076539 | RYR2 | c.8831-2359C>T (n.8831-2359C>T) c.8880C>T (p.Ile2960=) c.1069C>T c.8832C>T (p.Ile2944=) n.84-2359C>T c.8910C>T (p.Ile2970=) c.8907C>T (p.Ile2969=) c.8860+3251C>T (n.8860+3251C>T) c.8877C>T (p.Ile2959=) n.9191C>T c.8889C>T (p.Ile2963=) n.9224C>T | ClinVar dbSNP |
| 1 | g.237678098A>C | CA345403698 | RYR2 | c.8831-2358A>C (n.8831-2358A>C) c.8881A>C (p.Lys2961Gln) c.1070A>C c.8833A>C (p.Lys2945Gln) n.84-2358A>C c.8911A>C (p.Lys2971Gln) c.8908A>C (p.Lys2970Gln) c.8860+3252A>C (n.8860+3252A>C) c.8878A>C (p.Lys2960Gln) n.9192A>C c.8890A>C (p.Lys2964Gln) n.9225A>C | |
| 1 | g.237678098A>G | CA345403699 | RYR2 | c.8831-2358A>G (n.8831-2358A>G) c.8881A>G (p.Lys2961Glu) c.1070A>G c.8833A>G (p.Lys2945Glu) n.84-2358A>G c.8911A>G (p.Lys2971Glu) c.8908A>G (p.Lys2970Glu) c.8860+3252A>G (n.8860+3252A>G) c.8878A>G (p.Lys2960Glu) n.9192A>G c.8890A>G (p.Lys2964Glu) n.9225A>G | gnomAD v4 |
| 1 | g.237678098A>T | CA345403701 | RYR2 | c.8831-2358A>T (n.8831-2358A>T) c.8881A>T (p.Lys2961Ter) c.1070A>T c.8833A>T (p.Lys2945Ter) n.84-2358A>T c.8911A>T (p.Lys2971Ter) c.8908A>T (p.Lys2970Ter) c.8860+3252A>T (n.8860+3252A>T) c.8878A>T (p.Lys2960Ter) n.9192A>T c.8890A>T (p.Lys2964Ter) n.9225A>T | gnomAD v4 |
| 1 | g.237678099A>C | CA345403703 | RYR2 | c.8831-2357A>C (n.8831-2357A>C) c.8882A>C (p.Lys2961Thr) c.1071A>C c.8834A>C (p.Lys2945Thr) n.84-2357A>C c.8912A>C (p.Lys2971Thr) c.8909A>C (p.Lys2970Thr) c.8860+3253A>C (n.8860+3253A>C) c.8879A>C (p.Lys2960Thr) n.9193A>C c.8891A>C (p.Lys2964Thr) n.9226A>C | COSMIC COSMIC |
| 1 | g.237678099A>G | CA345403705 | RYR2 | c.8831-2357A>G (n.8831-2357A>G) c.8882A>G (p.Lys2961Arg) c.1071A>G c.8834A>G (p.Lys2945Arg) n.84-2357A>G c.8912A>G (p.Lys2971Arg) c.8909A>G (p.Lys2970Arg) c.8860+3253A>G (n.8860+3253A>G) c.8879A>G (p.Lys2960Arg) n.9193A>G c.8891A>G (p.Lys2964Arg) n.9226A>G | gnomAD v4 |
| 1 | g.237678099A>T | CA345403706 | RYR2 | c.8831-2357A>T (n.8831-2357A>T) c.8882A>T (p.Lys2961Met) c.1071A>T c.8834A>T (p.Lys2945Met) n.84-2357A>T c.8912A>T (p.Lys2971Met) c.8909A>T (p.Lys2970Met) c.8860+3253A>T (n.8860+3253A>T) c.8879A>T (p.Lys2960Met) n.9193A>T c.8891A>T (p.Lys2964Met) n.9226A>T | gnomAD v4 |
| 1 | g.237678100G>A | CA423821651 | RYR2 | c.8831-2356G>A (n.8831-2356G>A) c.8883G>A (p.Lys2961=) c.1072G>A c.8835G>A (p.Lys2945=) n.84-2356G>A c.8913G>A (p.Lys2971=) c.8910G>A (p.Lys2970=) c.8860+3254G>A (n.8860+3254G>A) c.8880G>A (p.Lys2960=) n.9194G>A c.8892G>A (p.Lys2964=) n.9227G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237678100G>C | CA345403708 | RYR2 | c.8831-2356G>C (n.8831-2356G>C) c.8883G>C (p.Lys2961Asn) c.1072G>C c.8835G>C (p.Lys2945Asn) n.84-2356G>C c.8913G>C (p.Lys2971Asn) c.8910G>C (p.Lys2970Asn) c.8860+3254G>C (n.8860+3254G>C) c.8880G>C (p.Lys2960Asn) n.9194G>C c.8892G>C (p.Lys2964Asn) n.9227G>C | |
| 1 | g.237678100G= | CA2487439302 | RYR2 | c.8831-2356G= (n.8831-2356G=) c.8883G= (p.Lys2961=) c.1072G= c.8835G= (p.Lys2945=) n.84-2356G= c.8913G= (p.Lys2971=) c.8910G= (p.Lys2970=) c.8860+3254G= (n.8860+3254G=) c.8880G= (p.Lys2960=) n.9194G= c.8892G= (p.Lys2964=) n.9227G= | |
| 1 | g.237678100G>T | CA345403710 | RYR2 | c.8831-2356G>T (n.8831-2356G>T) c.8883G>T (p.Lys2961Asn) c.1072G>T c.8835G>T (p.Lys2945Asn) n.84-2356G>T c.8913G>T (p.Lys2971Asn) c.8910G>T (p.Lys2970Asn) c.8860+3254G>T (n.8860+3254G>T) c.8880G>T (p.Lys2960Asn) n.9194G>T c.8892G>T (p.Lys2964Asn) n.9227G>T | |
| 1 | g.237678101T>A | CA345403711 | RYR2 | c.8831-2355T>A (n.8831-2355T>A) c.8884T>A (p.Phe2962Ile) c.1073T>A c.8836T>A (p.Phe2946Ile) n.84-2355T>A c.8914T>A (p.Phe2972Ile) c.8911T>A (p.Phe2971Ile) c.8860+3255T>A (n.8860+3255T>A) c.8881T>A (p.Phe2961Ile) n.9195T>A c.8893T>A (p.Phe2965Ile) n.9228T>A | |
| 1 | g.237678101T>C | CA345403712 | RYR2 | c.8831-2355T>C (n.8831-2355T>C) c.8884T>C (p.Phe2962Leu) c.1073T>C c.8836T>C (p.Phe2946Leu) n.84-2355T>C c.8914T>C (p.Phe2972Leu) c.8911T>C (p.Phe2971Leu) c.8860+3255T>C (n.8860+3255T>C) c.8881T>C (p.Phe2961Leu) n.9195T>C c.8893T>C (p.Phe2965Leu) n.9228T>C | gnomAD v4 |
| 1 | g.237678101T>G | CA345403714 | RYR2 | c.8831-2355T>G (n.8831-2355T>G) c.8884T>G (p.Phe2962Val) c.1073T>G c.8836T>G (p.Phe2946Val) n.84-2355T>G c.8914T>G (p.Phe2972Val) c.8911T>G (p.Phe2971Val) c.8860+3255T>G (n.8860+3255T>G) c.8881T>G (p.Phe2961Val) n.9195T>G c.8893T>G (p.Phe2965Val) n.9228T>G | |
| 1 | g.237678102T>A | CA345403716 | RYR2 | c.8831-2354T>A (n.8831-2354T>A) c.8885T>A (p.Phe2962Tyr) c.1074T>A c.8837T>A (p.Phe2946Tyr) n.84-2354T>A c.8915T>A (p.Phe2972Tyr) c.8912T>A (p.Phe2971Tyr) c.8860+3256T>A (n.8860+3256T>A) c.8882T>A (p.Phe2961Tyr) n.9196T>A c.8894T>A (p.Phe2965Tyr) n.9229T>A | |
| 1 | g.237678102T>C | CA345403718 | RYR2 | c.8831-2354T>C (n.8831-2354T>C) c.8885T>C (p.Phe2962Ser) c.1074T>C c.8837T>C (p.Phe2946Ser) n.84-2354T>C c.8915T>C (p.Phe2972Ser) c.8912T>C (p.Phe2971Ser) c.8860+3256T>C (n.8860+3256T>C) c.8882T>C (p.Phe2961Ser) n.9196T>C c.8894T>C (p.Phe2965Ser) n.9229T>C | |
| 1 | g.237678102T>G | CA345403719 | RYR2 | c.8831-2354T>G (n.8831-2354T>G) c.8885T>G (p.Phe2962Cys) c.1074T>G c.8837T>G (p.Phe2946Cys) n.84-2354T>G c.8915T>G (p.Phe2972Cys) c.8912T>G (p.Phe2971Cys) c.8860+3256T>G (n.8860+3256T>G) c.8882T>G (p.Phe2961Cys) n.9196T>G c.8894T>G (p.Phe2965Cys) n.9229T>G | |
| 1 | g.237678103C>A | CA087758 | RYR2 | c.8831-2353C>A (n.8831-2353C>A) c.8886C>A (p.Phe2962Leu) c.1075C>A c.8838C>A (p.Phe2946Leu) n.84-2353C>A c.8916C>A (p.Phe2972Leu) c.8913C>A (p.Phe2971Leu) c.8860+3257C>A (n.8860+3257C>A) c.8883C>A (p.Phe2961Leu) n.9197C>A c.8895C>A (p.Phe2965Leu) n.9230C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.237678103C= | CA1143880416 | RYR2 | c.8831-2353C= (n.8831-2353C=) c.8886C= (p.Phe2962=) c.1075C= c.8838C= (p.Phe2946=) n.84-2353C= c.8916C= (p.Phe2972=) c.8913C= (p.Phe2971=) c.8860+3257C= (n.8860+3257C=) c.8883C= (p.Phe2961=) n.9197C= c.8895C= (p.Phe2965=) n.9230C= |