Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38502571_38502589del | CA2584900595 | RYR1 | c.7679_7697del (p.Pro2560ArgfsTer?) c.7676_7694del (p.Pro2559ArgfsTer?) c.1131_1149del n.7762_7780del | gnomAD v4 |
19 | g.38502582A>C | CA405671625 | RYR1 | c.7690A>C (p.Lys2564Gln) c.7687A>C (p.Lys2563Gln) c.1142A>C n.7773A>C | |
19 | g.38502582A>G | CA405671626 | RYR1 | c.7690A>G (p.Lys2564Glu) c.7687A>G (p.Lys2563Glu) c.1142A>G n.7773A>G | |
19 | g.38502582A>T | CA405671629 | RYR1 | c.7690A>T (p.Lys2564Ter) c.7687A>T (p.Lys2563Ter) c.1142A>T n.7773A>T | |
19 | g.38502583A>C | CA405671632 | RYR1 | c.7691A>C (p.Lys2564Thr) c.7688A>C (p.Lys2563Thr) c.1143A>C n.7774A>C | ClinVar |
19 | g.38502583A>G | CA405671635 | RYR1 | c.7691A>G (p.Lys2564Arg) c.7688A>G (p.Lys2563Arg) c.1143A>G n.7774A>G | |
19 | g.38502583A>T | CA405671638 | RYR1 | c.7691A>T (p.Lys2564Met) c.7688A>T (p.Lys2563Met) c.1143A>T n.7774A>T | |
19 | g.38502584G>A | CA10587319 | RYR1 | c.7692G>A (p.Lys2564=) c.7689G>A (p.Lys2563=) c.1144G>A n.7775G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38502584G>C | CA405671644 | RYR1 | c.7692G>C (p.Lys2564Asn) c.7689G>C (p.Lys2563Asn) c.1144G>C n.7775G>C | ClinVar dbSNP gnomAD v4 |
19 | g.38502584G= | CA2335053962 | RYR1 | c.7692G= (p.Lys2564=) c.7689G= (p.Lys2563=) c.1144G= n.7775G= | |
19 | g.38502584G>T | CA405671646 | RYR1 | c.7692G>T (p.Lys2564Asn) c.7689G>T (p.Lys2563Asn) c.1144G>T n.7775G>T | gnomAD v4 |
19 | g.38502585T>A | CA405671650 | RYR1 | c.7693T>A (p.Cys2565Ser) c.7690T>A (p.Cys2564Ser) c.1145T>A n.7776T>A | gnomAD v4 |
19 | g.38502585T>C | CA405671647 | RYR1 | c.7693T>C (p.Cys2565Arg) c.7690T>C (p.Cys2564Arg) c.1145T>C n.7776T>C | gnomAD v4 |
19 | g.38502585T>G | CA308111979 | RYR1 | c.7693T>G (p.Cys2565Gly) c.7690T>G (p.Cys2564Gly) c.1145T>G n.7776T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502585T= | CA2335053966 | RYR1 | c.7693T= (p.Cys2565=) c.7690T= (p.Cys2564=) c.1145T= n.7776T= | |
19 | g.38502586G>A | CA405671654 | RYR1 | c.7694G>A (p.Cys2565Tyr) c.7691G>A (p.Cys2564Tyr) c.1146G>A n.7777G>A | |
19 | g.38502586G>C | CA405671658 | RYR1 | c.7694G>C (p.Cys2565Ser) c.7691G>C (p.Cys2564Ser) c.1146G>C n.7777G>C | |
19 | g.38502586G= | CA2335053969 | RYR1 | c.7694G= (p.Cys2565=) c.7691G= (p.Cys2564=) c.1146G= n.7777G= | |
19 | g.38502586G>T | CA405671659 | RYR1 | c.7694G>T (p.Cys2565Phe) c.7691G>T (p.Cys2564Phe) c.1146G>T n.7777G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502587T>A | CA405671663 | RYR1 | c.7695T>A (p.Cys2565Ter) c.7692T>A (p.Cys2564Ter) c.1147T>A n.7778T>A | |
19 | g.38502587T>C | CA507243737 | RYR1 | c.7695T>C (p.Cys2565=) c.7692T>C (p.Cys2564=) c.1147T>C n.7778T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502587T>G | CA070001 | RYR1 | c.7695T>G (p.Cys2565Trp) c.7692T>G (p.Cys2564Trp) c.1147T>G n.7778T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502587T= | CA2335053973 | RYR1 | c.7695T= (p.Cys2565=) c.7692T= (p.Cys2564=) c.1147T= n.7778T= | |
19 | g.38502588G>A | CA405671664 | RYR1 | c.7696G>A (p.Ala2566Thr) c.7693G>A (p.Ala2565Thr) c.1148G>A n.7779G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38502588G>C | CA405671666 | RYR1 | c.7696G>C (p.Ala2566Pro) c.7693G>C (p.Ala2565Pro) c.1148G>C n.7779G>C | |
19 | g.38502588G= | CA2335053980 | RYR1 | c.7696G= (p.Ala2566=) c.7693G= (p.Ala2565=) c.1148G= n.7779G= | |
19 | g.38502588G>T | CA070006 | RYR1 | c.7696G>T (p.Ala2566Ser) c.7693G>T (p.Ala2565Ser) c.1148G>T n.7779G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502589C>A | CA405671668 | RYR1 | c.7697C>A (p.Ala2566Glu) c.7694C>A (p.Ala2565Glu) c.1149C>A n.7780C>A | |
19 | g.38502589C= | CA2335053981 | RYR1 | c.7697C= (p.Ala2566=) c.7694C= (p.Ala2565=) c.1149C= n.7780C= | |
19 | g.38502589C>G | CA405671670 | RYR1 | c.7697C>G (p.Ala2566Gly) c.7694C>G (p.Ala2565Gly) c.1149C>G n.7780C>G | |
19 | g.38502589C>T | CA405671672 | RYR1 | c.7697C>T (p.Ala2566Val) c.7694C>T (p.Ala2565Val) c.1149C>T n.7780C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.38502590G>A | CA507243738 | RYR1 | c.7698G>A (p.Ala2566=) c.7695G>A (p.Ala2565=) c.1150G>A n.7781G>A | dbSNP gnomAD v4 COSMIC |
19 | g.38502590G>C | CA070009 | RYR1 | c.7698G>C (p.Ala2566=) c.7695G>C (p.Ala2565=) c.1150G>C n.7781G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502590G= | CA2335053985 | RYR1 | c.7698G= (p.Ala2566=) c.7695G= (p.Ala2565=) c.1150G= n.7781G= | |
19 | g.38502590G>T | CA507243739 | RYR1 | c.7698G>T (p.Ala2566=) c.7695G>T (p.Ala2565=) c.1150G>T n.7781G>T | gnomAD v4 |
19 | g.38502591C>A | CA405671675 | RYR1 | c.7699C>A (p.Pro2567Thr) c.7696C>A (p.Pro2566Thr) c.1151C>A n.7782C>A | |
19 | g.38502591C= | CA2335053989 | RYR1 | c.7699C= (p.Pro2567=) c.7696C= (p.Pro2566=) c.1151C= n.7782C= | |
19 | g.38502591C>G | CA405671677 | RYR1 | c.7699C>G (p.Pro2567Ala) c.7696C>G (p.Pro2566Ala) c.1151C>G n.7782C>G | ClinVar dbSNP gnomAD v4 |
19 | g.38502591C>T | CA082540 | RYR1 | c.7699C>T (p.Pro2567Ser) c.7696C>T (p.Pro2566Ser) c.1151C>T n.7782C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502592C>A | CA405671680 | RYR1 | c.7700C>A (p.Pro2567Gln) c.7697C>A (p.Pro2566Gln) c.1152C>A n.7783C>A | |
19 | g.38502592C= | CA2335053994 | RYR1 | c.7700C= (p.Pro2567=) c.7697C= (p.Pro2566=) c.1152C= n.7783C= | |
19 | g.38502592C>G | CA405671684 | RYR1 | c.7700C>G (p.Pro2567Arg) c.7697C>G (p.Pro2566Arg) c.1152C>G n.7783C>G | |
19 | g.38502592C>T | CA070018 | RYR1 | c.7700C>T (p.Pro2567Leu) c.7697C>T (p.Pro2566Leu) c.1152C>T n.7783C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502593G>A | CA507243740 | RYR1 | c.7701G>A (p.Pro2567=) c.7698G>A (p.Pro2566=) c.1153G>A n.7784G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38502593G>C | CA082541 | RYR1 | c.7701G>C (p.Pro2567=) c.7698G>C (p.Pro2566=) c.1153G>C n.7784G>C | |
19 | g.38502593G= | CA2335053995 | RYR1 | c.7701G= (p.Pro2567=) c.7698G= (p.Pro2566=) c.1153G= n.7784G= | |
19 | g.38502593G>T | CA507243741 | RYR1 | c.7701G>T (p.Pro2567=) c.7698G>T (p.Pro2566=) c.1153G>T n.7784G>T | gnomAD v4 |
19 | g.38502594C>A | CA405671689 | RYR1 | c.7702C>A (p.Leu2568Ile) c.7699C>A (p.Leu2567Ile) c.1154C>A n.7785C>A | |
19 | g.38502594C= | CA2335053998 | RYR1 | c.7702C= (p.Leu2568=) c.7699C= (p.Leu2567=) c.1154C= n.7785C= | |
19 | g.38502594C>G | CA405671690 | RYR1 | c.7702C>G (p.Leu2568Val) c.7699C>G (p.Leu2567Val) c.1154C>G n.7785C>G | gnomAD v4 |
19 | g.38502594C>T | CA082542 | RYR1 | c.7702C>T (p.Leu2568Phe) c.7699C>T (p.Leu2567Phe) c.1154C>T n.7785C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502595T>A | CA405671691 | RYR1 | c.7703T>A (p.Leu2568His) c.7700T>A (p.Leu2567His) c.1155T>A n.7786T>A | |
19 | g.38502595T>C | CA405671692 | RYR1 | c.7703T>C (p.Leu2568Pro) c.7700T>C (p.Leu2567Pro) c.1155T>C n.7786T>C | gnomAD v4 |
19 | g.38502595T>G | CA308112015 | RYR1 | c.7703T>G (p.Leu2568Arg) c.7700T>G (p.Leu2567Arg) c.1155T>G n.7786T>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502595T= | CA2335054001 | RYR1 | c.7703T= (p.Leu2568=) c.7700T= (p.Leu2567=) c.1155T= n.7786T= | |
19 | g.38502596C>A | CA507243742 | RYR1 | c.7704C>A (p.Leu2568=) c.7701C>A (p.Leu2567=) c.1156C>A n.7787C>A | |
19 | g.38502596C= | CA2335054005 | RYR1 | c.7704C= (p.Leu2568=) c.7701C= (p.Leu2567=) c.1156C= n.7787C= | |
19 | g.38502596C>G | CA507243743 | RYR1 | c.7704C>G (p.Leu2568=) c.7701C>G (p.Leu2567=) c.1156C>G n.7787C>G | dbSNP gnomAD v4 |
19 | g.38502596C>T | CA308112016 | RYR1 | c.7704C>T (p.Leu2568=) c.7701C>T (p.Leu2567=) c.1156C>T n.7787C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502597T>A | CA405671696 | RYR1 | c.7705T>A (p.Phe2569Ile) c.7702T>A (p.Phe2568Ile) c.1157T>A n.7788T>A | |
19 | g.38502597T>C | CA405671697 | RYR1 | c.7705T>C (p.Phe2569Leu) c.7702T>C (p.Phe2568Leu) c.1157T>C n.7788T>C | |
19 | g.38502597T>G | CA405671700 | RYR1 | c.7705T>G (p.Phe2569Val) c.7702T>G (p.Phe2568Val) c.1157T>G n.7788T>G | |
19 | g.38502598_38502599del | CA913015954 | RYR1 | c.7706_7707del (p.Phe2569CysfsTer?) c.7703_7704del (p.Phe2568CysfsTer?) c.1158_1159del n.7789_7790del | |
19 | g.38502598T>A | CA405671704 | RYR1 | c.7706T>A (p.Phe2569Tyr) c.7703T>A (p.Phe2568Tyr) c.1158T>A n.7789T>A | |
19 | g.38502598T>C | CA070023 | RYR1 | c.7706T>C (p.Phe2569Ser) c.7703T>C (p.Phe2568Ser) c.1158T>C n.7789T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502598T>G | CA308112023 | RYR1 | c.7706T>G (p.Phe2569Cys) c.7703T>G (p.Phe2568Cys) c.1158T>G n.7789T>G | ClinVar dbSNP gnomAD v4 |
19 | g.38502598T= | CA2335054009 | RYR1 | c.7706T= (p.Phe2569=) c.7703T= (p.Phe2568=) c.1158T= n.7789T= | |
19 | g.38502599T>A | CA405671708 | RYR1 | c.7707T>A (p.Phe2569Leu) c.7704T>A (p.Phe2568Leu) c.1159T>A n.7790T>A | gnomAD v4 |
19 | g.38502599T>C | CA308112030 | RYR1 | c.7707T>C (p.Phe2569=) c.7704T>C (p.Phe2568=) c.1159T>C n.7790T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502599T>G | CA405671715 | RYR1 | c.7707T>G (p.Phe2569Leu) c.7704T>G (p.Phe2568Leu) c.1159T>G n.7790T>G | |
19 | g.38502599T= | CA2335054012 | RYR1 | c.7707T= (p.Phe2569=) c.7704T= (p.Phe2568=) c.1159T= n.7790T= | |
19 | g.38502600G>A | CA405671720 | RYR1 | c.7708G>A (p.Ala2570Thr) c.7705G>A (p.Ala2569Thr) c.1160G>A n.7791G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502600G>C | CA405671722 | RYR1 | c.7708G>C (p.Ala2570Pro) c.7705G>C (p.Ala2569Pro) c.1160G>C n.7791G>C | ClinVar |
19 | g.38502600G= | CA2335054014 | RYR1 | c.7708G= (p.Ala2570=) c.7705G= (p.Ala2569=) c.1160G= n.7791G= | |
19 | g.38502600G>T | CA405671724 | RYR1 | c.7708G>T (p.Ala2570Ser) c.7705G>T (p.Ala2569Ser) c.1160G>T n.7791G>T | |
19 | g.38502601C>A | CA405671728 | RYR1 | c.7709C>A (p.Ala2570Glu) c.7706C>A (p.Ala2569Glu) c.1161C>A n.7792C>A | |
19 | g.38502601C= | CA2335054019 | RYR1 | c.7709C= (p.Ala2570=) c.7706C= (p.Ala2569=) c.1161C= n.7792C= | |
19 | g.38502601C>G | CA405671730 | RYR1 | c.7709C>G (p.Ala2570Gly) c.7706C>G (p.Ala2569Gly) c.1161C>G n.7792C>G | |
19 | g.38502601C>T | CA070028 | RYR1 | c.7709C>T (p.Ala2570Val) c.7706C>T (p.Ala2569Val) c.1161C>T n.7792C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38502602G>A | CA507243745 | RYR1 | c.7710G>A (p.Ala2570=) c.7707G>A (p.Ala2569=) c.1162G>A n.7793G>A | dbSNP gnomAD v4 |
19 | g.38502602G>C | CA507243747 | RYR1 | c.7710G>C (p.Ala2570=) c.7707G>C (p.Ala2569=) c.1162G>C n.7793G>C | |
19 | g.38502602G= | CA2335054025 | RYR1 | c.7710G= (p.Ala2570=) c.7707G= (p.Ala2569=) c.1162G= n.7793G= | |
19 | g.38502602G>T | CA507243746 | RYR1 | c.7710G>T (p.Ala2570=) c.7707G>T (p.Ala2569=) c.1162G>T n.7793G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502604del | CA2584900596 | RYR1 | c.7712del (p.Gly2571AlafsTer?) c.7709del (p.Gly2570AlafsTer?) c.1164del n.7795del | gnomAD v4 |
19 | g.38502603G>A | CA070031 | RYR1 | c.7711G>A (p.Gly2571Ser) c.7708G>A (p.Gly2570Ser) c.1163G>A n.7794G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38502603G>C | CA405671732 | RYR1 | c.7711G>C (p.Gly2571Arg) c.7708G>C (p.Gly2570Arg) c.1163G>C n.7794G>C | |
19 | g.38502603G= | CA2335054031 | RYR1 | c.7711G= (p.Gly2571=) c.7708G= (p.Gly2570=) c.1163G= n.7794G= | |
19 | g.38502603G>T | CA405671733 | RYR1 | c.7711G>T (p.Gly2571Cys) c.7708G>T (p.Gly2570Cys) c.1163G>T n.7794G>T | gnomAD v4 |
19 | g.38502604G>A | CA070034 | RYR1 | c.7712G>A (p.Gly2571Asp) c.7709G>A (p.Gly2570Asp) c.1164G>A n.7795G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502604G>C | CA070039 | RYR1 | c.7712G>C (p.Gly2571Ala) c.7709G>C (p.Gly2570Ala) c.1164G>C n.7795G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502604G= | CA2335054036 | RYR1 | c.7712G= (p.Gly2571=) c.7709G= (p.Gly2570=) c.1164G= n.7795G= | |
19 | g.38502604G>T | CA405671736 | RYR1 | c.7712G>T (p.Gly2571Val) c.7709G>T (p.Gly2570Val) c.1164G>T n.7795G>T | |
19 | g.38502605C>A | CA507243748 | RYR1 | c.7713C>A (p.Gly2571=) c.7710C>A (p.Gly2570=) c.1165C>A n.7796C>A | dbSNP gnomAD v2 |
19 | g.38502605C= | CA2335054041 | RYR1 | c.7713C= (p.Gly2571=) c.7710C= (p.Gly2570=) c.1165C= n.7796C= | |
19 | g.38502605C>G | CA507243749 | RYR1 | c.7713C>G (p.Gly2571=) c.7710C>G (p.Gly2570=) c.1165C>G n.7796C>G | ClinVar dbSNP gnomAD v4 |
19 | g.38502605C>T | CA507243750 | RYR1 | c.7713C>T (p.Gly2571=) c.7710C>T (p.Gly2570=) c.1165C>T n.7796C>T | ClinVar dbSNP |
19 | g.38502606A>C | CA405671739 | RYR1 | c.7714A>C (p.Thr2572Pro) c.7711A>C (p.Thr2571Pro) c.1166A>C n.7797A>C | |
19 | g.38502606A>G | CA405671743 | RYR1 | c.7714A>G (p.Thr2572Ala) c.7711A>G (p.Thr2571Ala) c.1166A>G n.7797A>G | gnomAD v4 |
19 | g.38502606A>T | CA405671741 | RYR1 | c.7714A>T (p.Thr2572Ser) c.7711A>T (p.Thr2571Ser) c.1166A>T n.7797A>T | |
19 | g.38502607C>A | CA405671746 | RYR1 | c.7715C>A (p.Thr2572Lys) c.7712C>A (p.Thr2571Lys) c.1167C>A n.7798C>A | |
19 | g.38502607C= | CA2335054044 | RYR1 | c.7715C= (p.Thr2572=) c.7712C= (p.Thr2571=) c.1167C= n.7798C= | |
19 | g.38502607C>G | CA405671757 | RYR1 | c.7715C>G (p.Thr2572Arg) c.7712C>G (p.Thr2571Arg) c.1167C>G n.7798C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502607C>T | CA070040 | RYR1 | c.7715C>T (p.Thr2572Ile) c.7712C>T (p.Thr2571Ile) c.1167C>T n.7798C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502608A>C | CA507243751 | RYR1 | c.7716A>C (p.Thr2572=) c.7713A>C (p.Thr2571=) c.1168A>C n.7799A>C | |
19 | g.38502608A>G | CA507243752 | RYR1 | c.7716A>G (p.Thr2572=) c.7713A>G (p.Thr2571=) c.1168A>G n.7799A>G | gnomAD v4 |
19 | g.38502608A>T | CA507243753 | RYR1 | c.7716A>T (p.Thr2572=) c.7713A>T (p.Thr2571=) c.1168A>T n.7799A>T | |
19 | g.38502609G>A | CA070045 | RYR1 | c.7717G>A (p.Glu2573Lys) c.7714G>A (p.Glu2572Lys) c.1169G>A n.7800G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502609G>C | CA405671763 | RYR1 | c.7717G>C (p.Glu2573Gln) c.7714G>C (p.Glu2572Gln) c.1169G>C n.7800G>C | dbSNP gnomAD v4 COSMIC |
19 | g.38502609G= | CA2335054049 | RYR1 | c.7717G= (p.Glu2573=) c.7714G= (p.Glu2572=) c.1169G= n.7800G= | |
19 | g.38502609G>T | CA405671761 | RYR1 | c.7717G>T (p.Glu2573Ter) c.7714G>T (p.Glu2572Ter) c.1169G>T n.7800G>T | gnomAD v4 |
19 | g.38502610A= | CA2335054055 | RYR1 | c.7718A= (p.Glu2573=) c.7715A= (p.Glu2572=) c.1170A= n.7801A= | |
19 | g.38502610A>C | CA405671767 | RYR1 | c.7718A>C (p.Glu2573Ala) c.7715A>C (p.Glu2572Ala) c.1170A>C n.7801A>C | |
19 | g.38502610A>G | CA070050 | RYR1 | c.7718A>G (p.Glu2573Gly) c.7715A>G (p.Glu2572Gly) c.1170A>G n.7801A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502610A>T | CA405671769 | RYR1 | c.7718A>T (p.Glu2573Val) c.7715A>T (p.Glu2572Val) c.1170A>T n.7801A>T | |
19 | g.38502611A>C | CA405671770 | RYR1 | c.7719A>C (p.Glu2573Asp) c.7716A>C (p.Glu2572Asp) c.1171A>C n.7802A>C | |
19 | g.38502611A>G | CA507243754 | RYR1 | c.7719A>G (p.Glu2573=) c.7716A>G (p.Glu2572=) c.1171A>G n.7802A>G | gnomAD v4 |
19 | g.38502611A>T | CA405671772 | RYR1 | c.7719A>T (p.Glu2573Asp) c.7716A>T (p.Glu2572Asp) c.1171A>T n.7802A>T | |
19 | g.38502611_38502660dup | CA2697556551 | RYR1 | c.7719_7768dup (p.Ser2590TyrfsTer?) c.7716_7765dup (p.Ser2589TyrfsTer?) c.1171_1220dup n.7802_7851dup | ClinVar |
19 | g.38502612C>A | CA405671774 | RYR1 | c.7720C>A (p.His2574Asn) c.7717C>A (p.His2573Asn) c.1172C>A n.7803C>A | |
19 | g.38502612C= | CA2335054059 | RYR1 | c.7720C= (p.His2574=) c.7717C= (p.His2573=) c.1172C= n.7803C= | |
19 | g.38502612C>G | CA405671776 | RYR1 | c.7720C>G (p.His2574Asp) c.7717C>G (p.His2573Asp) c.1172C>G n.7803C>G | |
19 | g.38502612C>T | CA070057 | RYR1 | c.7720C>T (p.His2574Tyr) c.7717C>T (p.His2573Tyr) c.1172C>T n.7803C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502613A= | CA2335054061 | RYR1 | c.7721A= (p.His2574=) c.7718A= (p.His2573=) c.1173A= n.7804A= | |
19 | g.38502613A>C | CA405671780 | RYR1 | c.7721A>C (p.His2574Pro) c.7718A>C (p.His2573Pro) c.1173A>C n.7804A>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502613A>G | CA082557 | RYR1 | c.7721A>G (p.His2574Arg) c.7718A>G (p.His2573Arg) c.1173A>G n.7804A>G | gnomAD v4 |
19 | g.38502613A>T | CA405671784 | RYR1 | c.7721A>T (p.His2574Leu) c.7718A>T (p.His2573Leu) c.1173A>T n.7804A>T | |
19 | g.38502614C>A | CA405671786 | RYR1 | c.7722C>A (p.His2574Gln) c.7719C>A (p.His2573Gln) c.1174C>A n.7805C>A | |
19 | g.38502614C= | CA2335054065 | RYR1 | c.7722C= (p.His2574=) c.7719C= (p.His2573=) c.1174C= n.7805C= | |
19 | g.38502614C>G | CA405671789 | RYR1 | c.7722C>G (p.His2574Gln) c.7719C>G (p.His2573Gln) c.1174C>G n.7805C>G | |
19 | g.38502614C>T | CA070061 | RYR1 | c.7722C>T (p.His2574=) c.7719C>T (p.His2573=) c.1174C>T n.7805C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502615C>A | CA405671797 | RYR1 | c.7723C>A (p.Arg2575Ser) c.7720C>A (p.Arg2574Ser) c.1175C>A n.7806C>A | gnomAD v4 |
19 | g.38502615C= | CA2335054068 | RYR1 | c.7723C= (p.Arg2575=) c.7720C= (p.Arg2574=) c.1175C= n.7806C= | |
19 | g.38502615C>G | CA405671800 | RYR1 | c.7723C>G (p.Arg2575Gly) c.7720C>G (p.Arg2574Gly) c.1175C>G n.7806C>G | |
19 | g.38502615C>T | CA082560 | RYR1 | c.7723C>T (p.Arg2575Cys) c.7720C>T (p.Arg2574Cys) c.1175C>T n.7806C>T | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.38502616G>A | CA070067 | RYR1 | c.7724G>A (p.Arg2575His) c.7721G>A (p.Arg2574His) c.1176G>A n.7807G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502616G>C | CA405671808 | RYR1 | c.7724G>C (p.Arg2575Pro) c.7721G>C (p.Arg2574Pro) c.1176G>C n.7807G>C | ClinVar dbSNP |
19 | g.38502616G= | CA2335054075 | RYR1 | c.7724G= (p.Arg2575=) c.7721G= (p.Arg2574=) c.1176G= n.7807G= | |
19 | g.38502616G>T | CA405671810 | RYR1 | c.7724G>T (p.Arg2575Leu) c.7721G>T (p.Arg2574Leu) c.1176G>T n.7807G>T | gnomAD v4 |
19 | g.38502617C>A | CA507243762 | RYR1 | c.7725C>A (p.Arg2575=) c.7722C>A (p.Arg2574=) c.1177C>A n.7808C>A | ClinVar |
19 | g.38502617C= | CA2335054080 | RYR1 | c.7725C= (p.Arg2575=) c.7722C= (p.Arg2574=) c.1177C= n.7808C= | |
19 | g.38502617C>G | CA507243763 | RYR1 | c.7725C>G (p.Arg2575=) c.7722C>G (p.Arg2574=) c.1177C>G n.7808C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502617C>T | CA082562 | RYR1 | c.7725C>T (p.Arg2575=) c.7722C>T (p.Arg2574=) c.1177C>T n.7808C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.38502618G>A | CA070074 | RYR1 | c.7726G>A (p.Ala2576Thr) c.7723G>A (p.Ala2575Thr) c.1178G>A n.7809G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502618G>C | CA405671813 | RYR1 | c.7726G>C (p.Ala2576Pro) c.7723G>C (p.Ala2575Pro) c.1178G>C n.7809G>C | |
19 | g.38502618G= | CA2335054084 | RYR1 | c.7726G= (p.Ala2576=) c.7723G= (p.Ala2575=) c.1178G= n.7809G= | |
19 | g.38502618G>T | CA405671816 | RYR1 | c.7726G>T (p.Ala2576Ser) c.7723G>T (p.Ala2575Ser) c.1178G>T n.7809G>T | |
19 | g.38502619C>A | CA405671824 | RYR1 | c.7727C>A (p.Ala2576Asp) c.7724C>A (p.Ala2575Asp) c.1179C>A n.7810C>A | |
19 | g.38502619C= | CA2335054085 | RYR1 | c.7727C= (p.Ala2576=) c.7724C= (p.Ala2575=) c.1179C= n.7810C= | |
19 | g.38502619C>G | CA405671826 | RYR1 | c.7727C>G (p.Ala2576Gly) c.7724C>G (p.Ala2575Gly) c.1179C>G n.7810C>G | |
19 | g.38502619C>T | CA070078 | RYR1 | c.7727C>T (p.Ala2576Val) c.7724C>T (p.Ala2575Val) c.1179C>T n.7810C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502620C>A | CA507243767 | RYR1 | c.7728C>A (p.Ala2576=) c.7725C>A (p.Ala2575=) c.1180C>A n.7811C>A | |
19 | g.38502620C= | CA2335054087 | RYR1 | c.7728C= (p.Ala2576=) c.7725C= (p.Ala2575=) c.1180C= n.7811C= | |
19 | g.38502620C>G | CA507243768 | RYR1 | c.7728C>G (p.Ala2576=) c.7725C>G (p.Ala2575=) c.1180C>G n.7811C>G | |
19 | g.38502620C>T | CA308112080 | RYR1 | c.7728C>T (p.Ala2576=) c.7725C>T (p.Ala2575=) c.1180C>T n.7811C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502621A= | CA2335054093 | RYR1 | c.7729A= (p.Ile2577=) c.7726A= (p.Ile2576=) c.1181A= n.7812A= | |
19 | g.38502621A>C | CA070082 | RYR1 | c.7729A>C (p.Ile2577Leu) c.7726A>C (p.Ile2576Leu) c.1181A>C n.7812A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502621A>G | CA070086 | RYR1 | c.7729A>G (p.Ile2577Val) c.7726A>G (p.Ile2576Val) c.1181A>G n.7812A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502621A>T | CA405671829 | RYR1 | c.7729A>T (p.Ile2577Phe) c.7726A>T (p.Ile2576Phe) c.1181A>T n.7812A>T | gnomAD v4 |
19 | g.38502621dup | CA2843385054 | RYR1 | c.7729dup (p.Ile2577AsnfsTer25) c.7726dup (p.Ile2576AsnfsTer25) c.1181dup n.7812dup | |
19 | g.38502621_38502634delinsATCATGGTGGACTC | CA2335054373 | RYR1 | c.7729_7742delinsATCATGGTGGACTC (p.Ile2577=) c.7726_7739delinsATCATGGTGGACTC (p.Ile2576=) c.1181_1194delinsATCATGGTGGACTC n.7812_7825delinsATCATGGTGGACTC | |
19 | g.38502622T>A | CA405671830 | RYR1 | c.7730T>A (p.Ile2577Asn) c.7727T>A (p.Ile2576Asn) c.1182T>A n.7813T>A | |
19 | g.38502622T>C | CA405671831 | RYR1 | c.7730T>C (p.Ile2577Thr) c.7727T>C (p.Ile2576Thr) c.1182T>C n.7813T>C | ClinVar |
19 | g.38502622T>G | CA405671833 | RYR1 | c.7730T>G (p.Ile2577Ser) c.7727T>G (p.Ile2576Ser) c.1182T>G n.7813T>G | |
19 | g.38502624_38502634del | CA2584900597 | RYR1 | c.7732_7742del (p.Met2578TyrfsTer20) c.7729_7739del (p.Met2577TyrfsTer20) c.1184_1194del n.7815_7825del | gnomAD v4 |
19 | g.38502623_38502635del | CA633066644 | RYR1 | c.7731_7743del (p.Met2578CysfsTer?) c.7728_7740del (p.Met2577CysfsTer?) c.1183_1195del n.7814_7826del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502623C>A | CA507243777 | RYR1 | c.7731C>A (p.Ile2577=) c.7728C>A (p.Ile2576=) c.1183C>A n.7814C>A | |
19 | g.38502623C= | CA2335054374 | RYR1 | c.7731C= (p.Ile2577=) c.7728C= (p.Ile2576=) c.1183C= n.7814C= | |
19 | g.38502623C>G | CA405671834 | RYR1 | c.7731C>G (p.Ile2577Met) c.7728C>G (p.Ile2576Met) c.1183C>G n.7814C>G | |
19 | g.38502623C>T | CA507243776 | RYR1 | c.7731C>T (p.Ile2577=) c.7728C>T (p.Ile2576=) c.1183C>T n.7814C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502624A= | CA2335054375 | RYR1 | c.7732A= (p.Met2578=) c.7729A= (p.Met2577=) c.1184A= n.7815A= | |
19 | g.38502624A>C | CA082569 | RYR1 | c.7732A>C (p.Met2578Leu) c.7729A>C (p.Met2577Leu) c.1184A>C n.7815A>C | |
19 | g.38502624A>G | CA082571 | RYR1 | c.7732A>G (p.Met2578Val) c.7729A>G (p.Met2577Val) c.1184A>G n.7815A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502624A>T | CA405671836 | RYR1 | c.7732A>T (p.Met2578Leu) c.7729A>T (p.Met2577Leu) c.1184A>T n.7815A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502625T>A | CA405671839 | RYR1 | c.7733T>A (p.Met2578Lys) c.7730T>A (p.Met2577Lys) c.1185T>A n.7816T>A | |
19 | g.38502625T>C | CA070096 | RYR1 | c.7733T>C (p.Met2578Thr) c.7730T>C (p.Met2577Thr) c.1185T>C n.7816T>C | dbSNP ExAC |
19 | g.38502625T>G | CA405671840 | RYR1 | c.7733T>G (p.Met2578Arg) c.7730T>G (p.Met2577Arg) c.1185T>G n.7816T>G | |
19 | g.38502625T= | CA2335054376 | RYR1 | c.7733T= (p.Met2578=) c.7730T= (p.Met2577=) c.1185T= n.7816T= | |
19 | g.38502626G>A | CA405671842 | RYR1 | c.7734G>A (p.Met2578Ile) c.7731G>A (p.Met2577Ile) c.1186G>A n.7817G>A | |
19 | g.38502626G>C | CA405671845 | RYR1 | c.7734G>C (p.Met2578Ile) c.7731G>C (p.Met2577Ile) c.1186G>C n.7817G>C | |
19 | g.38502626G>T | CA405671844 | RYR1 | c.7734G>T (p.Met2578Ile) c.7731G>T (p.Met2577Ile) c.1186G>T n.7817G>T | COSMIC |
19 | g.38502627G>A | CA405671848 | RYR1 | c.7735G>A (p.Val2579Met) c.7732G>A (p.Val2578Met) c.1187G>A n.7818G>A | gnomAD v4 |
19 | g.38502627G>C | CA405671850 | RYR1 | c.7735G>C (p.Val2579Leu) c.7732G>C (p.Val2578Leu) c.1187G>C n.7818G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502627G= | CA2335054377 | RYR1 | c.7735G= (p.Val2579=) c.7732G= (p.Val2578=) c.1187G= n.7818G= | |
19 | g.38502627G>T | CA405671854 | RYR1 | c.7735G>T (p.Val2579Leu) c.7732G>T (p.Val2578Leu) c.1187G>T n.7818G>T | |
19 | g.38502628T>A | CA405671856 | RYR1 | c.7736T>A (p.Val2579Glu) c.7733T>A (p.Val2578Glu) c.1188T>A n.7819T>A | |
19 | g.38502628T>C | CA070102 | RYR1 | c.7736T>C (p.Val2579Ala) c.7733T>C (p.Val2578Ala) c.1188T>C n.7819T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502628T>G | CA308112121 | RYR1 | c.7736T>G (p.Val2579Gly) c.7733T>G (p.Val2578Gly) c.1188T>G n.7819T>G | ClinVar dbSNP |
19 | g.38502628T= | CA2335054378 | RYR1 | c.7736T= (p.Val2579=) c.7733T= (p.Val2578=) c.1188T= n.7819T= | |
19 | g.38502629G>A | CA024844 | RYR1 | c.7737G>A (p.Val2579=) c.7734G>A (p.Val2578=) c.1189G>A n.7820G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502629G>C | CA507243790 | RYR1 | c.7737G>C (p.Val2579=) c.7734G>C (p.Val2578=) c.1189G>C n.7820G>C | |
19 | g.38502629G= | CA2335054379 | RYR1 | c.7737G= (p.Val2579=) c.7734G= (p.Val2578=) c.1189G= n.7820G= | |
19 | g.38502629G>T | CA070110 | RYR1 | c.7737G>T (p.Val2579=) c.7734G>T (p.Val2578=) c.1189G>T n.7820G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502630G>A | CA070115 | RYR1 | c.7738G>A (p.Asp2580Asn) c.7735G>A (p.Asp2579Asn) c.1190G>A n.7821G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502630G>C | CA405671862 | RYR1 | c.7738G>C (p.Asp2580His) c.7735G>C (p.Asp2579His) c.1190G>C n.7821G>C | |
19 | g.38502630G= | CA2335054380 | RYR1 | c.7738G= (p.Asp2580=) c.7735G= (p.Asp2579=) c.1190G= n.7821G= | |
19 | g.38502630G>T | CA405671863 | RYR1 | c.7738G>T (p.Asp2580Tyr) c.7735G>T (p.Asp2579Tyr) c.1190G>T n.7821G>T | |
19 | g.38502631A= | CA2335054381 | RYR1 | c.7739A= (p.Asp2580=) c.7736A= (p.Asp2579=) c.1191A= n.7822A= | |
19 | g.38502631A>C | CA405671865 | RYR1 | c.7739A>C (p.Asp2580Ala) c.7736A>C (p.Asp2579Ala) c.1191A>C n.7822A>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502631A>G | CA405671866 | RYR1 | c.7739A>G (p.Asp2580Gly) c.7736A>G (p.Asp2579Gly) c.1191A>G n.7822A>G | |
19 | g.38502631A>T | CA405671864 | RYR1 | c.7739A>T (p.Asp2580Val) c.7736A>T (p.Asp2579Val) c.1191A>T n.7822A>T | |
19 | g.38502632C>A | CA405671869 | RYR1 | c.7740C>A (p.Asp2580Glu) c.7737C>A (p.Asp2579Glu) c.1192C>A n.7823C>A | |
19 | g.38502632C= | CA2335054382 | RYR1 | c.7740C= (p.Asp2580=) c.7737C= (p.Asp2579=) c.1192C= n.7823C= | |
19 | g.38502632C>G | CA405671868 | RYR1 | c.7740C>G (p.Asp2580Glu) c.7737C>G (p.Asp2579Glu) c.1192C>G n.7823C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502632C>T | CA082580 | RYR1 | c.7740C>T (p.Asp2580=) c.7737C>T (p.Asp2579=) c.1192C>T n.7823C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502633T>A | CA405671876 | RYR1 | c.7741T>A (p.Ser2581Thr) c.7738T>A (p.Ser2580Thr) c.1193T>A n.7824T>A | |
19 | g.38502633T>C | CA405671879 | RYR1 | c.7741T>C (p.Ser2581Pro) c.7738T>C (p.Ser2580Pro) c.1193T>C n.7824T>C | gnomAD v4 |
19 | g.38502633T>G | CA405671880 | RYR1 | c.7741T>G (p.Ser2581Ala) c.7738T>G (p.Ser2580Ala) c.1193T>G n.7824T>G | |
19 | g.38502634C>A | CA405671891 | RYR1 | c.7742C>A (p.Ser2581Tyr) c.7739C>A (p.Ser2580Tyr) c.1194C>A n.7825C>A | COSMIC |
19 | g.38502634C= | CA2335054383 | RYR1 | c.7742C= (p.Ser2581=) c.7739C= (p.Ser2580=) c.1194C= n.7825C= | |
19 | g.38502634C>G | CA070127 | RYR1 | c.7742C>G (p.Ser2581Cys) c.7739C>G (p.Ser2580Cys) c.1194C>G n.7825C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502634C>T | CA405671886 | RYR1 | c.7742C>T (p.Ser2581Phe) c.7739C>T (p.Ser2580Phe) c.1194C>T n.7825C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38502635T>A | CA507243806 | RYR1 | c.7743T>A (p.Ser2581=) c.7740T>A (p.Ser2580=) c.1195T>A n.7826T>A | |
19 | g.38502635T>C | CA507243807 | RYR1 | c.7743T>C (p.Ser2581=) c.7740T>C (p.Ser2580=) c.1195T>C n.7826T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502635T>G | CA507243808 | RYR1 | c.7743T>G (p.Ser2581=) c.7740T>G (p.Ser2580=) c.1195T>G n.7826T>G | |
19 | g.38502635T= | CA2335054384 | RYR1 | c.7743T= (p.Ser2581=) c.7740T= (p.Ser2580=) c.1195T= n.7826T= | |
19 | g.38502636_38502637dup | CA2584900598 | RYR1 | c.7744_7745dup (p.Met2582IlefsTer?) c.7741_7742dup (p.Met2581IlefsTer?) c.1196_1197dup n.7827_7828dup | gnomAD v4 |
19 | g.38502636_38502637del | CA2573054755 | RYR1 | c.7744_7745del (p.Met2582AlafsTer19) c.7741_7742del (p.Met2581AlafsTer19) c.1196_1197del n.7827_7828del | ClinVar dbSNP gnomAD v4 |
19 | g.38502636A= | CA2335054385 | RYR1 | c.7744A= (p.Met2582=) c.7741A= (p.Met2581=) c.1196A= n.7827A= | |
19 | g.38502636A>C | CA405671893 | RYR1 | c.7744A>C (p.Met2582Leu) c.7741A>C (p.Met2581Leu) c.1196A>C n.7827A>C | |
19 | g.38502636A>G | CA070132 | RYR1 | c.7744A>G (p.Met2582Val) c.7741A>G (p.Met2581Val) c.1196A>G n.7827A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502636A>T | CA405671895 | RYR1 | c.7744A>T (p.Met2582Leu) c.7741A>T (p.Met2581Leu) c.1196A>T n.7827A>T | |
19 | g.38502637T>A | CA405671898 | RYR1 | c.7745T>A (p.Met2582Lys) c.7742T>A (p.Met2581Lys) c.1197T>A n.7828T>A | |
19 | g.38502637T>C | CA405671899 | RYR1 | c.7745T>C (p.Met2582Thr) c.7742T>C (p.Met2581Thr) c.1197T>C n.7828T>C | gnomAD v4 |
19 | g.38502637T>G | CA405671901 | RYR1 | c.7745T>G (p.Met2582Arg) c.7742T>G (p.Met2581Arg) c.1197T>G n.7828T>G | |
19 | g.38502638G>A | CA405671903 | RYR1 | c.7746G>A (p.Met2582Ile) c.7743G>A (p.Met2581Ile) c.1198G>A n.7829G>A | ClinVar gnomAD v4 |
19 | g.38502638G>C | CA405671905 | RYR1 | c.7746G>C (p.Met2582Ile) c.7743G>C (p.Met2581Ile) c.1198G>C n.7829G>C | |
19 | g.38502638G>T | CA405671904 | RYR1 | c.7746G>T (p.Met2582Ile) c.7743G>T (p.Met2581Ile) c.1198G>T n.7829G>T | |
19 | g.38502639C>A | CA405671906 | RYR1 | c.7747C>A (p.Leu2583Met) c.7744C>A (p.Leu2582Met) c.1199C>A n.7830C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502639C= | CA2335054386 | RYR1 | c.7747C= (p.Leu2583=) c.7744C= (p.Leu2582=) c.1199C= n.7830C= | |
19 | g.38502639C>G | CA405671907 | RYR1 | c.7747C>G (p.Leu2583Val) c.7744C>G (p.Leu2582Val) c.1199C>G n.7830C>G | dbSNP |
19 | g.38502639C>T | CA070138 | RYR1 | c.7747C>T (p.Leu2583=) c.7744C>T (p.Leu2582=) c.1199C>T n.7830C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502640T>A | CA405671909 | RYR1 | c.7748T>A (p.Leu2583Gln) c.7745T>A (p.Leu2582Gln) c.1200T>A n.7831T>A | ClinVar |
19 | g.38502640T>C | CA405671910 | RYR1 | c.7748T>C (p.Leu2583Pro) c.7745T>C (p.Leu2582Pro) c.1200T>C n.7831T>C | |
19 | g.38502640T>G | CA405671912 | RYR1 | c.7748T>G (p.Leu2583Arg) c.7745T>G (p.Leu2582Arg) c.1200T>G n.7831T>G | |
19 | g.38502641G>A | CA507243821 | RYR1 | c.7749G>A (p.Leu2583=) c.7746G>A (p.Leu2582=) c.1201G>A n.7832G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502641G>C | CA507243822 | RYR1 | c.7749G>C (p.Leu2583=) c.7746G>C (p.Leu2582=) c.1201G>C n.7832G>C | |
19 | g.38502641G= | CA2335054387 | RYR1 | c.7749G= (p.Leu2583=) c.7746G= (p.Leu2582=) c.1201G= n.7832G= | |
19 | g.38502641G>T | CA507243823 | RYR1 | c.7749G>T (p.Leu2583=) c.7746G>T (p.Leu2582=) c.1201G>T n.7832G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502642C>A | CA405671914 | RYR1 | c.7750C>A (p.His2584Asn) c.7747C>A (p.His2583Asn) c.1202C>A n.7833C>A | |
19 | g.38502642C= | CA2335054388 | RYR1 | c.7750C= (p.His2584=) c.7747C= (p.His2583=) c.1202C= n.7833C= | |
19 | g.38502642C>G | CA405671917 | RYR1 | c.7750C>G (p.His2584Asp) c.7747C>G (p.His2583Asp) c.1202C>G n.7833C>G | |
19 | g.38502642C>T | CA082591 | RYR1 | c.7750C>T (p.His2584Tyr) c.7747C>T (p.His2583Tyr) c.1202C>T n.7833C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502643A>C | CA405671918 | RYR1 | c.7751A>C (p.His2584Pro) c.7748A>C (p.His2583Pro) c.1203A>C n.7834A>C | |
19 | g.38502643A>G | CA405671920 | RYR1 | c.7751A>G (p.His2584Arg) c.7748A>G (p.His2583Arg) c.1203A>G n.7834A>G | |
19 | g.38502643A>T | CA405671923 | RYR1 | c.7751A>T (p.His2584Leu) c.7748A>T (p.His2583Leu) c.1203A>T n.7834A>T | |
19 | g.38502643_38502650del | CA2584900599 | RYR1 | c.7751_7758del (p.His2584LeufsTer15) c.7748_7755del (p.His2583LeufsTer15) c.1203_1210del n.7834_7841del | gnomAD v4 |
19 | g.38502644T>A | CA405671930 | RYR1 | c.7752T>A (p.His2584Gln) c.7749T>A (p.His2583Gln) c.1204T>A n.7835T>A | |
19 | g.38502644T>C | CA507243828 | RYR1 | c.7752T>C (p.His2584=) c.7749T>C (p.His2583=) c.1204T>C n.7835T>C | ClinVar dbSNP gnomAD v4 |
19 | g.38502644T>G | CA405671938 | RYR1 | c.7752T>G (p.His2584Gln) c.7749T>G (p.His2583Gln) c.1204T>G n.7835T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502644T= | CA2335054389 | RYR1 | c.7752T= (p.His2584=) c.7749T= (p.His2583=) c.1204T= n.7835T= | |
19 | g.38502645A= | CA2335054390 | RYR1 | c.7753A= (p.Thr2585=) c.7750A= (p.Thr2584=) c.1205A= n.7836A= | |
19 | g.38502645A>C | CA405671939 | RYR1 | c.7753A>C (p.Thr2585Pro) c.7750A>C (p.Thr2584Pro) c.1205A>C n.7836A>C | dbSNP |
19 | g.38502645A>G | CA405671940 | RYR1 | c.7753A>G (p.Thr2585Ala) c.7750A>G (p.Thr2584Ala) c.1205A>G n.7836A>G | ClinVar |
19 | g.38502645A>T | CA405671941 | RYR1 | c.7753A>T (p.Thr2585Ser) c.7750A>T (p.Thr2584Ser) c.1205A>T n.7836A>T | |
19 | g.38502646C>A | CA405671943 | RYR1 | c.7754C>A (p.Thr2585Asn) c.7751C>A (p.Thr2584Asn) c.1206C>A n.7837C>A | |
19 | g.38502646C= | CA2335054391 | RYR1 | c.7754C= (p.Thr2585=) c.7751C= (p.Thr2584=) c.1206C= n.7837C= | |
19 | g.38502646C>G | CA405671944 | RYR1 | c.7754C>G (p.Thr2585Ser) c.7751C>G (p.Thr2584Ser) c.1206C>G n.7837C>G | |
19 | g.38502646C>T | CA070145 | RYR1 | c.7754C>T (p.Thr2585Ile) c.7751C>T (p.Thr2584Ile) c.1206C>T n.7837C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502647C>A | CA507243838 | RYR1 | c.7755C>A (p.Thr2585=) c.7752C>A (p.Thr2584=) c.1207C>A n.7838C>A | gnomAD v4 |
19 | g.38502647C= | CA2335054392 | RYR1 | c.7755C= (p.Thr2585=) c.7752C= (p.Thr2584=) c.1207C= n.7838C= | |
19 | g.38502647C>G | CA070147 | RYR1 | c.7755C>G (p.Thr2585=) c.7752C>G (p.Thr2584=) c.1207C>G n.7838C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502647C>T | CA070152 | RYR1 | c.7755C>T (p.Thr2585=) c.7752C>T (p.Thr2584=) c.1207C>T n.7838C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502648G>A | CA070159 | RYR1 | c.7756G>A (p.Val2586Met) c.7753G>A (p.Val2585Met) c.1208G>A n.7839G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502648G>C | CA405671965 | RYR1 | c.7756G>C (p.Val2586Leu) c.7753G>C (p.Val2585Leu) c.1208G>C n.7839G>C | |
19 | g.38502648G= | CA2335054393 | RYR1 | c.7756G= (p.Val2586=) c.7753G= (p.Val2585=) c.1208G= n.7839G= | |
19 | g.38502648G>T | CA405671968 | RYR1 | c.7756G>T (p.Val2586Leu) c.7753G>T (p.Val2585Leu) c.1208G>T n.7839G>T | gnomAD v4 |
19 | g.38502649T>A | CA405671973 | RYR1 | c.7757T>A (p.Val2586Glu) c.7754T>A (p.Val2585Glu) c.1209T>A n.7840T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502649T>C | CA405671976 | RYR1 | c.7757T>C (p.Val2586Ala) c.7754T>C (p.Val2585Ala) c.1209T>C n.7840T>C | |
19 | g.38502649T>G | CA308112165 | RYR1 | c.7757T>G (p.Val2586Gly) c.7754T>G (p.Val2585Gly) c.1209T>G n.7840T>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502649T= | CA2335054394 | RYR1 | c.7757T= (p.Val2586=) c.7754T= (p.Val2585=) c.1209T= n.7840T= | |
19 | g.38502650G>A | CA507243844 | RYR1 | c.7758G>A (p.Val2586=) c.7755G>A (p.Val2585=) c.1210G>A n.7841G>A | |
19 | g.38502650G>C | CA507243843 | RYR1 | c.7758G>C (p.Val2586=) c.7755G>C (p.Val2585=) c.1210G>C n.7841G>C | |
19 | g.38502650G>T | CA507243842 | RYR1 | c.7758G>T (p.Val2586=) c.7755G>T (p.Val2585=) c.1210G>T n.7841G>T | gnomAD v4 |
19 | g.38502651T>A | CA405671980 | RYR1 | c.7759T>A (p.Tyr2587Asn) c.7756T>A (p.Tyr2586Asn) c.1211T>A n.7842T>A | gnomAD v4 |
19 | g.38502651T>C | CA405671990 | RYR1 | c.7759T>C (p.Tyr2587His) c.7756T>C (p.Tyr2586His) c.1211T>C n.7842T>C | |
19 | g.38502651T>G | CA405671987 | RYR1 | c.7759T>G (p.Tyr2587Asp) c.7756T>G (p.Tyr2586Asp) c.1211T>G n.7842T>G | |
19 | g.38502652A= | CA2335054395 | RYR1 | c.7760A= (p.Tyr2587=) c.7757A= (p.Tyr2586=) c.1212A= n.7843A= | |
19 | g.38502652A>C | CA405671991 | RYR1 | c.7760A>C (p.Tyr2587Ser) c.7757A>C (p.Tyr2586Ser) c.1212A>C n.7843A>C | dbSNP |
19 | g.38502652A>G | CA070164 | RYR1 | c.7760A>G (p.Tyr2587Cys) c.7757A>G (p.Tyr2586Cys) c.1212A>G n.7843A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502652A>T | CA405671992 | RYR1 | c.7760A>T (p.Tyr2587Phe) c.7757A>T (p.Tyr2586Phe) c.1212A>T n.7843A>T | dbSNP |
19 | g.38502653C>A | CA405671993 | RYR1 | c.7761C>A (p.Tyr2587Ter) c.7758C>A (p.Tyr2586Ter) c.1213C>A n.7844C>A | |
19 | g.38502653C= | CA2335054396 | RYR1 | c.7761C= (p.Tyr2587=) c.7758C= (p.Tyr2586=) c.1213C= n.7844C= | |
19 | g.38502653C>G | CA405671994 | RYR1 | c.7761C>G (p.Tyr2587Ter) c.7758C>G (p.Tyr2586Ter) c.1213C>G n.7844C>G | |
19 | g.38502653C>T | CA070169 | RYR1 | c.7761C>T (p.Tyr2587=) c.7758C>T (p.Tyr2586=) c.1213C>T n.7844C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502654C>A | CA405671998 | RYR1 | c.7762C>A (p.Arg2588Ser) c.7759C>A (p.Arg2587Ser) c.1214C>A n.7845C>A | |
19 | g.38502654C= | CA2335054397 | RYR1 | c.7762C= (p.Arg2588=) c.7759C= (p.Arg2587=) c.1214C= n.7845C= | |
19 | g.38502654C>G | CA070174 | RYR1 | c.7762C>G (p.Arg2588Gly) c.7759C>G (p.Arg2587Gly) c.1214C>G n.7845C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502654C>T | CA070179 | RYR1 | c.7762C>T (p.Arg2588Cys) c.7759C>T (p.Arg2587Cys) c.1214C>T n.7845C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38502655G>A | CA070185 | RYR1 | c.7763G>A (p.Arg2588His) c.7760G>A (p.Arg2587His) c.1215G>A n.7846G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502655G>C | CA405672005 | RYR1 | c.7763G>C (p.Arg2588Pro) c.7760G>C (p.Arg2587Pro) c.1215G>C n.7846G>C | ClinVar gnomAD v4 |
19 | g.38502655G= | CA2335054398 | RYR1 | c.7763G= (p.Arg2588=) c.7760G= (p.Arg2587=) c.1215G= n.7846G= | |
19 | g.38502655G>T | CA405672008 | RYR1 | c.7763G>T (p.Arg2588Leu) c.7760G>T (p.Arg2587Leu) c.1215G>T n.7846G>T | gnomAD v4 |
19 | g.38502656C>A | CA507243850 | RYR1 | c.7764C>A (p.Arg2588=) c.7761C>A (p.Arg2587=) c.1216C>A n.7847C>A | |
19 | g.38502656C= | CA2335054399 | RYR1 | c.7764C= (p.Arg2588=) c.7761C= (p.Arg2587=) c.1216C= n.7847C= | |
19 | g.38502656C>G | CA507243852 | RYR1 | c.7764C>G (p.Arg2588=) c.7761C>G (p.Arg2587=) c.1216C>G n.7847C>G | |
19 | g.38502656C>T | CA082604 | RYR1 | c.7764C>T (p.Arg2588=) c.7761C>T (p.Arg2587=) c.1216C>T n.7847C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502657C>A | CA405672012 | RYR1 | c.7765C>A (p.Leu2589Met) c.7762C>A (p.Leu2588Met) c.1217C>A n.7848C>A | gnomAD v4 |
19 | g.38502657C= | CA2335054400 | RYR1 | c.7765C= (p.Leu2589=) c.7762C= (p.Leu2588=) c.1217C= n.7848C= | |
19 | g.38502657C>G | CA082606 | RYR1 | c.7765C>G (p.Leu2589Val) c.7762C>G (p.Leu2588Val) c.1217C>G n.7848C>G | |
19 | g.38502657C>T | CA070189 | RYR1 | c.7765C>T (p.Leu2589=) c.7762C>T (p.Leu2588=) c.1217C>T n.7848C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502658T>A | CA405672015 | RYR1 | c.7766T>A (p.Leu2589Gln) c.7763T>A (p.Leu2588Gln) c.1218T>A n.7849T>A | |
19 | g.38502658T>C | CA405672021 | RYR1 | c.7766T>C (p.Leu2589Pro) c.7763T>C (p.Leu2588Pro) c.1218T>C n.7849T>C | gnomAD v4 |
19 | g.38502658T>G | CA405672025 | RYR1 | c.7766T>G (p.Leu2589Arg) c.7763T>G (p.Leu2588Arg) c.1218T>G n.7849T>G | |
19 | g.38502659G>A | CA070193 | RYR1 | c.7767G>A (p.Leu2589=) c.7764G>A (p.Leu2588=) c.1219G>A n.7850G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502659G>C | CA507243859 | RYR1 | c.7767G>C (p.Leu2589=) c.7764G>C (p.Leu2588=) c.1219G>C n.7850G>C | ClinVar dbSNP |
19 | g.38502659G= | CA2335054401 | RYR1 | c.7767G= (p.Leu2589=) c.7764G= (p.Leu2588=) c.1219G= n.7850G= | |
19 | g.38502659G>T | CA507243860 | RYR1 | c.7767G>T (p.Leu2589=) c.7764G>T (p.Leu2588=) c.1219G>T n.7850G>T | |
19 | g.38502660T>A | CA405672038 | RYR1 | c.7768T>A (p.Ser2590Thr) c.7765T>A (p.Ser2589Thr) c.1220T>A n.7851T>A | |
19 | g.38502660T>C | CA405672031 | RYR1 | c.7768T>C (p.Ser2590Pro) c.7765T>C (p.Ser2589Pro) c.1220T>C n.7851T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502660T>G | CA405672035 | RYR1 | c.7768T>G (p.Ser2590Ala) c.7765T>G (p.Ser2589Ala) c.1220T>G n.7851T>G | |
19 | g.38502660T= | CA2335054402 | RYR1 | c.7768T= (p.Ser2590=) c.7765T= (p.Ser2589=) c.1220T= n.7851T= | |
19 | g.38502661C>A | CA405672041 | RYR1 | c.7769C>A (p.Ser2590Tyr) c.7766C>A (p.Ser2589Tyr) c.1221C>A n.7852C>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502661C= | CA2335054403 | RYR1 | c.7769C= (p.Ser2590=) c.7766C= (p.Ser2589=) c.1221C= n.7852C= | |
19 | g.38502661C>G | CA405672043 | RYR1 | c.7769C>G (p.Ser2590Cys) c.7766C>G (p.Ser2589Cys) c.1221C>G n.7852C>G | dbSNP gnomAD v4 |
19 | g.38502661C>T | CA070200 | RYR1 | c.7769C>T (p.Ser2590Phe) c.7766C>T (p.Ser2589Phe) c.1221C>T n.7852C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502662T>A | CA507243864 | RYR1 | c.7770T>A (p.Ser2590=) c.7767T>A (p.Ser2589=) c.1222T>A n.7853T>A | |
19 | g.38502662T>C | CA507243866 | RYR1 | c.7770T>C (p.Ser2590=) c.7767T>C (p.Ser2589=) c.1222T>C n.7853T>C | gnomAD v4 |
19 | g.38502662T>G | CA507243865 | RYR1 | c.7770T>G (p.Ser2590=) c.7767T>G (p.Ser2589=) c.1222T>G n.7853T>G | gnomAD v4 |
19 | g.38502662dup | CA2697556553 | RYR1 | c.7770dup (p.Arg2591SerfsTer11) c.7767dup (p.Arg2590SerfsTer11) c.1222dup n.7853dup | ClinVar |
19 | g.38502662_38502678dup | CA2573054756 | RYR1 | c.7770_7786dup (p.Thr2596IlefsTer?) c.7767_7783dup (p.Thr2595IlefsTer?) c.1222_1238dup n.7853_7869dup | ClinVar dbSNP |
19 | g.38502663C>A | CA507243869 | RYR1 | c.7771C>A (p.Arg2591=) c.7768C>A (p.Arg2590=) c.1223C>A n.7854C>A | gnomAD v4 |
19 | g.38502663C= | CA2335054404 | RYR1 | c.7771C= (p.Arg2591=) c.7768C= (p.Arg2590=) c.1223C= n.7854C= | |
19 | g.38502663C>G | CA024847 | RYR1 | c.7771C>G (p.Arg2591Gly) c.7768C>G (p.Arg2590Gly) c.1223C>G n.7854C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502663C>T | CA024850 | RYR1 | c.7771C>T (p.Arg2591Trp) c.7768C>T (p.Arg2590Trp) c.1223C>T n.7854C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38502664G>A | CA405672050 | RYR1 | c.7772G>A (p.Arg2591Gln) c.7769G>A (p.Arg2590Gln) c.1224G>A n.7855G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38502664G>C | CA070207 | RYR1 | c.7772G>C (p.Arg2591Pro) c.7769G>C (p.Arg2590Pro) c.1224G>C n.7855G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502664G= | CA2335054405 | RYR1 | c.7772G= (p.Arg2591=) c.7769G= (p.Arg2590=) c.1224G= n.7855G= | |
19 | g.38502664G>T | CA070209 | RYR1 | c.7772G>T (p.Arg2591Leu) c.7769G>T (p.Arg2590Leu) c.1224G>T n.7855G>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38502667dup | CA633066648 | RYR1 | c.7775dup (p.Arg2593SerfsTer9) c.7772dup (p.Arg2592SerfsTer9) c.1227dup n.7858dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502667del | CA2584900600 | RYR1 | c.7775del (p.Gly2592ValfsTer?) c.7772del (p.Gly2591ValfsTer?) c.1227del n.7858del | gnomAD v4 |
19 | g.38502665G>A | CA507243874 | RYR1 | c.7773G>A (p.Arg2591=) c.7770G>A (p.Arg2590=) c.1225G>A n.7856G>A | gnomAD v4 |
19 | g.38502665G>C | CA507243875 | RYR1 | c.7773G>C (p.Arg2591=) c.7770G>C (p.Arg2590=) c.1225G>C n.7856G>C | |
19 | g.38502665G>T | CA507243876 | RYR1 | c.7773G>T (p.Arg2591=) c.7770G>T (p.Arg2590=) c.1225G>T n.7856G>T | gnomAD v4 |
19 | g.38502666G>A | CA405672051 | RYR1 | c.7774G>A (p.Gly2592Ser) c.7771G>A (p.Gly2591Ser) c.1226G>A n.7857G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502666G>C | CA405672053 | RYR1 | c.7774G>C (p.Gly2592Arg) c.7771G>C (p.Gly2591Arg) c.1226G>C n.7857G>C | ClinVar COSMIC |
19 | g.38502666G= | CA2335054406 | RYR1 | c.7774G= (p.Gly2592=) c.7771G= (p.Gly2591=) c.1226G= n.7857G= | |
19 | g.38502666G>T | CA405672055 | RYR1 | c.7774G>T (p.Gly2592Cys) c.7771G>T (p.Gly2591Cys) c.1226G>T n.7857G>T | gnomAD v4 |
19 | g.38502667G>A | CA405672059 | RYR1 | c.7775G>A (p.Gly2592Asp) c.7772G>A (p.Gly2591Asp) c.1227G>A n.7858G>A | gnomAD v4 |
19 | g.38502667G>C | CA082618 | RYR1 | c.7775G>C (p.Gly2592Ala) c.7772G>C (p.Gly2591Ala) c.1227G>C n.7858G>C | |
19 | g.38502667G>T | CA082620 | RYR1 | c.7775G>T (p.Gly2592Val) c.7772G>T (p.Gly2591Val) c.1227G>T n.7858G>T | gnomAD v4 |
19 | g.38502668T>A | CA507243882 | RYR1 | c.7776T>A (p.Gly2592=) c.7773T>A (p.Gly2591=) c.1228T>A n.7859T>A | |
19 | g.38502668T>C | CA070214 | RYR1 | c.7776T>C (p.Gly2592=) c.7773T>C (p.Gly2591=) c.1228T>C n.7859T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502668T>G | CA507243883 | RYR1 | c.7776T>G (p.Gly2592=) c.7773T>G (p.Gly2591=) c.1228T>G n.7859T>G | gnomAD v3 gnomAD v4 |
19 | g.38502668T= | CA2335054407 | RYR1 | c.7776T= (p.Gly2592=) c.7773T= (p.Gly2591=) c.1228T= n.7859T= | |
19 | g.38502669C>A | CA405672064 | RYR1 | c.7777C>A (p.Arg2593Ser) c.7774C>A (p.Arg2592Ser) c.1229C>A n.7860C>A | |
19 | g.38502669C= | CA2335054408 | RYR1 | c.7777C= (p.Arg2593=) c.7774C= (p.Arg2592=) c.1229C= n.7860C= | |
19 | g.38502669C>G | CA405672067 | RYR1 | c.7777C>G (p.Arg2593Gly) c.7774C>G (p.Arg2592Gly) c.1229C>G n.7860C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502669C>T | CA070217 | RYR1 | c.7777C>T (p.Arg2593Cys) c.7774C>T (p.Arg2592Cys) c.1229C>T n.7860C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502670G>A | CA070222 | RYR1 | c.7778G>A (p.Arg2593His) c.7775G>A (p.Arg2592His) c.1230G>A n.7861G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502670G>C | CA405672083 | RYR1 | c.7778G>C (p.Arg2593Pro) c.7775G>C (p.Arg2592Pro) c.1230G>C n.7861G>C | |
19 | g.38502670G= | CA2335054409 | RYR1 | c.7778G= (p.Arg2593=) c.7775G= (p.Arg2592=) c.1230G= n.7861G= | |
19 | g.38502670G>T | CA405672085 | RYR1 | c.7778G>T (p.Arg2593Leu) c.7775G>T (p.Arg2592Leu) c.1230G>T n.7861G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502671T>A | CA507243889 | RYR1 | c.7779T>A (p.Arg2593=) c.7776T>A (p.Arg2592=) c.1231T>A n.7862T>A | |
19 | g.38502671T>C | CA082622 | RYR1 | c.7779T>C (p.Arg2593=) c.7776T>C (p.Arg2592=) c.1231T>C n.7862T>C | |
19 | g.38502671T>G | CA507243888 | RYR1 | c.7779T>G (p.Arg2593=) c.7776T>G (p.Arg2592=) c.1231T>G n.7862T>G | |
19 | g.38502672T>A | CA405672110 | RYR1 | c.7780T>A (p.Ser2594Thr) c.7777T>A (p.Ser2593Thr) c.1232T>A n.7863T>A | |
19 | g.38502672T>C | CA405672096 | RYR1 | c.7780T>C (p.Ser2594Pro) c.7777T>C (p.Ser2593Pro) c.1232T>C n.7863T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502672T>G | CA405672099 | RYR1 | c.7780T>G (p.Ser2594Ala) c.7777T>G (p.Ser2593Ala) c.1232T>G n.7863T>G | |
19 | g.38502672T= | CA2335054410 | RYR1 | c.7780T= (p.Ser2594=) c.7777T= (p.Ser2593=) c.1232T= n.7863T= | |
19 | g.38502673C>A | CA405672113 | RYR1 | c.7781C>A (p.Ser2594Ter) c.7778C>A (p.Ser2593Ter) c.1233C>A n.7864C>A | |
19 | g.38502673C= | CA2335054411 | RYR1 | c.7781C= (p.Ser2594=) c.7778C= (p.Ser2593=) c.1233C= n.7864C= | |
19 | g.38502673C>G | CA405672116 | RYR1 | c.7781C>G (p.Ser2594Trp) c.7778C>G (p.Ser2593Trp) c.1233C>G n.7864C>G | |
19 | g.38502673C>T | CA070231 | RYR1 | c.7781C>T (p.Ser2594Leu) c.7778C>T (p.Ser2593Leu) c.1233C>T n.7864C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502674G>A | CA507243893 | RYR1 | c.7782G>A (p.Ser2594=) c.7779G>A (p.Ser2593=) c.1234G>A n.7865G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38502674G>C | CA070232 | RYR1 | c.7782G>C (p.Ser2594=) c.7779G>C (p.Ser2593=) c.1234G>C n.7865G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502674G= | CA2335054412 | RYR1 | c.7782G= (p.Ser2594=) c.7779G= (p.Ser2593=) c.1234G= n.7865G= | |
19 | g.38502674G>T | CA507243894 | RYR1 | c.7782G>T (p.Ser2594=) c.7779G>T (p.Ser2593=) c.1234G>T n.7865G>T | gnomAD v4 |
19 | g.38502675C>A | CA405672122 | RYR1 | c.7783C>A (p.Leu2595Ile) c.7780C>A (p.Leu2594Ile) c.1235C>A n.7866C>A | |
19 | g.38502675C= | CA2335054413 | RYR1 | c.7783C= (p.Leu2595=) c.7780C= (p.Leu2594=) c.1235C= n.7866C= | |
19 | g.38502675C>G | CA405672125 | RYR1 | c.7783C>G (p.Leu2595Val) c.7780C>G (p.Leu2594Val) c.1235C>G n.7866C>G | |
19 | g.38502675C>T | CA405672126 | RYR1 | c.7783C>T (p.Leu2595Phe) c.7780C>T (p.Leu2594Phe) c.1235C>T n.7866C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502675_38502683delinsCTCACCAAG | CA2335054414 | RYR1 | c.7783_7791delinsCTCACCAAG (p.Leu2595=) c.7780_7788delinsCTCACCAAG (p.Leu2594=) c.1235_1243delinsCTCACCAAG n.7866_7874delinsCTCACCAAG | |
19 | g.38502676T>A | CA405672129 | RYR1 | c.7784T>A (p.Leu2595His) c.7781T>A (p.Leu2594His) c.1236T>A n.7867T>A | gnomAD v4 |
19 | g.38502676T>C | CA405672132 | RYR1 | c.7784T>C (p.Leu2595Pro) c.7781T>C (p.Leu2594Pro) c.1236T>C n.7867T>C | gnomAD v4 |
19 | g.38502676T>G | CA405672131 | RYR1 | c.7784T>G (p.Leu2595Arg) c.7781T>G (p.Leu2594Arg) c.1236T>G n.7867T>G | |
19 | g.38502676_38502683del | CA915952998 | RYR1 | c.7784_7791del (p.Leu2595ArgfsTer4) c.7781_7788del (p.Leu2594ArgfsTer4) c.1236_1243del n.7867_7874del | ClinVar dbSNP gnomAD v4 |
19 | g.38502677C>A | CA507243897 | RYR1 | c.7785C>A (p.Leu2595=) c.7782C>A (p.Leu2594=) c.1237C>A n.7868C>A | |
19 | g.38502677C= | CA2335054415 | RYR1 | c.7785C= (p.Leu2595=) c.7782C= (p.Leu2594=) c.1237C= n.7868C= | |
19 | g.38502677C>G | CA507243900 | RYR1 | c.7785C>G (p.Leu2595=) c.7782C>G (p.Leu2594=) c.1237C>G n.7868C>G | |
19 | g.38502677C>T | CA070237 | RYR1 | c.7785C>T (p.Leu2595=) c.7782C>T (p.Leu2594=) c.1237C>T n.7868C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502678A>C | CA405672147 | RYR1 | c.7786A>C (p.Thr2596Pro) c.7783A>C (p.Thr2595Pro) c.1238A>C n.7869A>C | |
19 | g.38502678A>G | CA405672149 | RYR1 | c.7786A>G (p.Thr2596Ala) c.7783A>G (p.Thr2595Ala) c.1238A>G n.7869A>G | gnomAD v4 |
19 | g.38502678A>T | CA405672150 | RYR1 | c.7786A>T (p.Thr2596Ser) c.7783A>T (p.Thr2595Ser) c.1238A>T n.7869A>T | |
19 | g.38502679C>A | CA405672156 | RYR1 | c.7787C>A (p.Thr2596Asn) c.7784C>A (p.Thr2595Asn) c.1239C>A n.7870C>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.38502679C= | CA2335054416 | RYR1 | c.7787C= (p.Thr2596=) c.7784C= (p.Thr2595=) c.1239C= n.7870C= | |
19 | g.38502679C>G | CA070243 | RYR1 | c.7787C>G (p.Thr2596Ser) c.7784C>G (p.Thr2595Ser) c.1239C>G n.7870C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502679C>T | CA024853 | RYR1 | c.7787C>T (p.Thr2596Ile) c.7784C>T (p.Thr2595Ile) c.1239C>T n.7870C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502680C>A | CA507243904 | RYR1 | c.7788C>A (p.Thr2596=) c.7785C>A (p.Thr2595=) c.1240C>A n.7871C>A | |
19 | g.38502680C= | CA2335054417 | RYR1 | c.7788C= (p.Thr2596=) c.7785C= (p.Thr2595=) c.1240C= n.7871C= | |
19 | g.38502680C>G | CA507243905 | RYR1 | c.7788C>G (p.Thr2596=) c.7785C>G (p.Thr2595=) c.1240C>G n.7871C>G | ClinVar dbSNP |
19 | g.38502680C>T | CA070258 | RYR1 | c.7788C>T (p.Thr2596=) c.7785C>T (p.Thr2595=) c.1240C>T n.7871C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502681A= | CA2335054418 | RYR1 | c.7789A= (p.Lys2597=) c.7786A= (p.Lys2596=) c.1241A= n.7872A= | |
19 | g.38502681A>C | CA405672159 | RYR1 | c.7789A>C (p.Lys2597Gln) c.7786A>C (p.Lys2596Gln) c.1241A>C n.7872A>C | gnomAD v4 |
19 | g.38502681A>G | CA308112251 | RYR1 | c.7789A>G (p.Lys2597Glu) c.7786A>G (p.Lys2596Glu) c.1241A>G n.7872A>G | dbSNP gnomAD v4 |
19 | g.38502681A>T | CA405672166 | RYR1 | c.7789A>T (p.Lys2597Ter) c.7786A>T (p.Lys2596Ter) c.1241A>T n.7872A>T | |
19 | g.38502682A>C | CA405672169 | RYR1 | c.7790A>C (p.Lys2597Thr) c.7787A>C (p.Lys2596Thr) c.1242A>C n.7873A>C | |
19 | g.38502682A>G | CA405672175 | RYR1 | c.7790A>G (p.Lys2597Arg) c.7787A>G (p.Lys2596Arg) c.1242A>G n.7873A>G | |
19 | g.38502682A>T | CA405672176 | RYR1 | c.7790A>T (p.Lys2597Met) c.7787A>T (p.Lys2596Met) c.1242A>T n.7873A>T |