Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.38502621_38502634delinsATCATGGTGGACTC | CA2335054373 | RYR1 | c.7729_7742delinsATCATGGTGGACTC (p.Ile2577=) c.7726_7739delinsATCATGGTGGACTC (p.Ile2576=) c.1181_1194delinsATCATGGTGGACTC n.7812_7825delinsATCATGGTGGACTC | |
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.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 | |
19 | g.38502683G>A | CA507243909 | RYR1 | c.7791G>A (p.Lys2597=) c.7788G>A (p.Lys2596=) c.1243G>A n.7874G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502683G>C | CA405672177 | RYR1 | c.7791G>C (p.Lys2597Asn) c.7788G>C (p.Lys2596Asn) c.1243G>C n.7874G>C | gnomAD v4 |
19 | g.38502683G= | CA2335054419 | RYR1 | c.7791G= (p.Lys2597=) c.7788G= (p.Lys2596=) c.1243G= n.7874G= | |
19 | g.38502683G>T | CA405672178 | RYR1 | c.7791G>T (p.Lys2597Asn) c.7788G>T (p.Lys2596Asn) c.1243G>T n.7874G>T | gnomAD v4 |
19 | g.38502684_38502686del | CA2584900601 | RYR1 | c.7792_7794del (p.Ala2598del) c.7789_7791del (p.Ala2597del) c.1244_1246del n.7875_7877del | gnomAD v4 |
19 | g.38502684G>A | CA070269 | RYR1 | c.7792G>A (p.Ala2598Thr) c.7789G>A (p.Ala2597Thr) c.1244G>A n.7875G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502684G>C | CA405672179 | RYR1 | c.7792G>C (p.Ala2598Pro) c.7789G>C (p.Ala2597Pro) c.1244G>C n.7875G>C | |
19 | g.38502684G= | CA2335054420 | RYR1 | c.7792G= (p.Ala2598=) c.7789G= (p.Ala2597=) c.1244G= n.7875G= | |
19 | g.38502684G>T | CA405672180 | RYR1 | c.7792G>T (p.Ala2598Ser) c.7789G>T (p.Ala2597Ser) c.1244G>T n.7875G>T | gnomAD v4 |
19 | g.38502685C>A | CA405672181 | RYR1 | c.7793C>A (p.Ala2598Glu) c.7790C>A (p.Ala2597Glu) c.1245C>A n.7876C>A | |
19 | g.38502685C= | CA2335054421 | RYR1 | c.7793C= (p.Ala2598=) c.7790C= (p.Ala2597=) c.1245C= n.7876C= | |
19 | g.38502685C>G | CA308112261 | RYR1 | c.7793C>G (p.Ala2598Gly) c.7790C>G (p.Ala2597Gly) c.1245C>G n.7876C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502685C>T | CA070276 | RYR1 | c.7793C>T (p.Ala2598Val) c.7790C>T (p.Ala2597Val) c.1245C>T n.7876C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38502686G>A | CA070280 | RYR1 | c.7794G>A (p.Ala2598=) c.7791G>A (p.Ala2597=) c.1246G>A n.7877G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502686G>C | CA507243920 | RYR1 | c.7794G>C (p.Ala2598=) c.7791G>C (p.Ala2597=) c.1246G>C n.7877G>C | ClinVar |
19 | g.38502686G= | CA2335054422 | RYR1 | c.7794G= (p.Ala2598=) c.7791G= (p.Ala2597=) c.1246G= n.7877G= | |
19 | g.38502686G>T | CA070285 | RYR1 | c.7794G>T (p.Ala2598=) c.7791G>T (p.Ala2597=) c.1246G>T n.7877G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502687C>A | CA405672184 | RYR1 | c.7795C>A (p.Gln2599Lys) c.7792C>A (p.Gln2598Lys) c.1247C>A n.7878C>A | |
19 | g.38502687C>G | CA405672187 | RYR1 | c.7795C>G (p.Gln2599Glu) c.7792C>G (p.Gln2598Glu) c.1247C>G n.7878C>G | |
19 | g.38502687C>T | CA405672188 | RYR1 | c.7795C>T (p.Gln2599Ter) c.7792C>T (p.Gln2598Ter) c.1247C>T n.7878C>T | gnomAD v4 |
19 | g.38502688A>C | CA405672189 | RYR1 | c.7796A>C (p.Gln2599Pro) c.7793A>C (p.Gln2598Pro) c.1248A>C n.7879A>C | |
19 | g.38502688A>G | CA405672190 | RYR1 | c.7796A>G (p.Gln2599Arg) c.7793A>G (p.Gln2598Arg) c.1248A>G n.7879A>G | |
19 | g.38502688A>T | CA405672191 | RYR1 | c.7796A>T (p.Gln2599Leu) c.7793A>T (p.Gln2598Leu) c.1248A>T n.7879A>T | |
19 | g.38502689G>A | CA070290 | RYR1 | c.7797G>A (p.Gln2599=) c.7794G>A (p.Gln2598=) c.1249G>A n.7880G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502689G>C | CA405672198 | RYR1 | c.7797G>C (p.Gln2599His) c.7794G>C (p.Gln2598His) c.1249G>C n.7880G>C | dbSNP |
19 | g.38502689G= | CA2335054423 | RYR1 | c.7797G= (p.Gln2599=) c.7794G= (p.Gln2598=) c.1249G= n.7880G= | |
19 | g.38502689G>T | CA082644 | RYR1 | c.7797G>T (p.Gln2599His) c.7794G>T (p.Gln2598His) c.1249G>T n.7880G>T | gnomAD v4 |
19 | g.38502690C>A | CA405672202 | RYR1 | c.7798C>A (p.Arg2600Ser) c.7795C>A (p.Arg2599Ser) c.1250C>A n.7881C>A | |
19 | g.38502690C= | CA2335054424 | RYR1 | c.7798C= (p.Arg2600=) c.7795C= (p.Arg2599=) c.1250C= n.7881C= | |
19 | g.38502690C>G | CA405672204 | RYR1 | c.7798C>G (p.Arg2600Gly) c.7795C>G (p.Arg2599Gly) c.1250C>G n.7881C>G | gnomAD v4 |
19 | g.38502690C>T | CA405672205 | RYR1 | c.7798C>T (p.Arg2600Cys) c.7795C>T (p.Arg2599Cys) c.1250C>T n.7881C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502691G>A | CA070297 | RYR1 | c.7799G>A (p.Arg2600His) c.7796G>A (p.Arg2599His) c.1251G>A n.7882G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502691G>C | CA405672207 | RYR1 | c.7799G>C (p.Arg2600Pro) c.7796G>C (p.Arg2599Pro) c.1251G>C n.7882G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502691G= | CA2335054425 | RYR1 | c.7799G= (p.Arg2600=) c.7796G= (p.Arg2599=) c.1251G= n.7882G= | |
19 | g.38502691G>T | CA405672206 | RYR1 | c.7799G>T (p.Arg2600Leu) c.7796G>T (p.Arg2599Leu) c.1251G>T n.7882G>T | gnomAD v4 |
19 | g.38502692T>A | CA507243933 | RYR1 | c.7800T>A (p.Arg2600=) c.7797T>A (p.Arg2599=) c.1252T>A n.7883T>A | |
19 | g.38502692T>C | CA070302 | RYR1 | c.7800T>C (p.Arg2600=) c.7797T>C (p.Arg2599=) c.1252T>C n.7883T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502692T>G | CA507243931 | RYR1 | c.7800T>G (p.Arg2600=) c.7797T>G (p.Arg2599=) c.1252T>G n.7883T>G | |
19 | g.38502692T= | CA2335054426 | RYR1 | c.7800T= (p.Arg2600=) c.7797T= (p.Arg2599=) c.1252T= n.7883T= | |
19 | g.38502693G>A | CA405672208 | RYR1 | c.7801G>A (p.Asp2601Asn) c.7798G>A (p.Asp2600Asn) c.1253G>A n.7884G>A | |
19 | g.38502693G>C | CA405672210 | RYR1 | c.7801G>C (p.Asp2601His) c.7798G>C (p.Asp2600His) c.1253G>C n.7884G>C | |
19 | g.38502693G>T | CA405672213 | RYR1 | c.7801G>T (p.Asp2601Tyr) c.7798G>T (p.Asp2600Tyr) c.1253G>T n.7884G>T | gnomAD v4 |
19 | g.38502694A>C | CA405672215 | RYR1 | c.7802A>C (p.Asp2601Ala) c.7799A>C (p.Asp2600Ala) c.1254A>C n.7885A>C | gnomAD v4 |
19 | g.38502694A>G | CA405672217 | RYR1 | c.7802A>G (p.Asp2601Gly) c.7799A>G (p.Asp2600Gly) c.1254A>G n.7885A>G | gnomAD v4 |
19 | g.38502694A>T | CA405672225 | RYR1 | c.7802A>T (p.Asp2601Val) c.7799A>T (p.Asp2600Val) c.1254A>T n.7885A>T | |
19 | g.38502695C>A | CA405672227 | RYR1 | c.7803C>A (p.Asp2601Glu) c.7800C>A (p.Asp2600Glu) c.1255C>A n.7886C>A | |
19 | g.38502695C= | CA2335054427 | RYR1 | c.7803C= (p.Asp2601=) c.7800C= (p.Asp2600=) c.1255C= n.7886C= | |
19 | g.38502695C>G | CA405672237 | RYR1 | c.7803C>G (p.Asp2601Glu) c.7800C>G (p.Asp2600Glu) c.1255C>G n.7886C>G | |
19 | g.38502695C>T | CA070303 | RYR1 | c.7803C>T (p.Asp2601=) c.7800C>T (p.Asp2600=) c.1255C>T n.7886C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502696G>A | CA070309 | RYR1 | c.7804G>A (p.Val2602Ile) c.7801G>A (p.Val2601Ile) c.1256G>A n.7887G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502696G>C | CA405672248 | RYR1 | c.7804G>C (p.Val2602Leu) c.7801G>C (p.Val2601Leu) c.1256G>C n.7887G>C | dbSNP gnomAD v4 |
19 | g.38502696G= | CA2335054428 | RYR1 | c.7804G= (p.Val2602=) c.7801G= (p.Val2601=) c.1256G= n.7887G= | |
19 | g.38502696G>T | CA405672242 | RYR1 | c.7804G>T (p.Val2602Phe) c.7801G>T (p.Val2601Phe) c.1256G>T n.7887G>T | gnomAD v4 |
19 | g.38502697T>A | CA405672251 | RYR1 | c.7805T>A (p.Val2602Asp) c.7802T>A (p.Val2601Asp) c.1257T>A n.7888T>A | gnomAD v4 |
19 | g.38502697T>C | CA405672254 | RYR1 | c.7805T>C (p.Val2602Ala) c.7802T>C (p.Val2601Ala) c.1257T>C n.7888T>C | |
19 | g.38502697T>G | CA405672256 | RYR1 | c.7805T>G (p.Val2602Gly) c.7802T>G (p.Val2601Gly) c.1257T>G n.7888T>G | |
19 | g.38502698C>A | CA507243940 | RYR1 | c.7806C>A (p.Val2602=) c.7803C>A (p.Val2601=) c.1258C>A n.7889C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502698C= | CA2335054429 | RYR1 | c.7806C= (p.Val2602=) c.7803C= (p.Val2601=) c.1258C= n.7889C= | |
19 | g.38502698C>G | CA507243941 | RYR1 | c.7806C>G (p.Val2602=) c.7803C>G (p.Val2601=) c.1258C>G n.7889C>G | |
19 | g.38502698C>T | CA082656 | RYR1 | c.7806C>T (p.Val2602=) c.7803C>T (p.Val2601=) c.1258C>T n.7889C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38502699A>C | CA405672260 | RYR1 | c.7807A>C (p.Ile2603Leu) c.7804A>C (p.Ile2602Leu) c.1259A>C n.7890A>C | |
19 | g.38502699A>G | CA405672266 | RYR1 | c.7807A>G (p.Ile2603Val) c.7804A>G (p.Ile2602Val) c.1259A>G n.7890A>G | |
19 | g.38502699A>T | CA405672269 | RYR1 | c.7807A>T (p.Ile2603Phe) c.7804A>T (p.Ile2602Phe) c.1259A>T n.7890A>T | ClinVar |
19 | g.38502700T>A | CA405672285 | RYR1 | c.7808T>A (p.Ile2603Asn) c.7805T>A (p.Ile2602Asn) c.1260T>A n.7891T>A | |
19 | g.38502700T>C | CA405672275 | RYR1 | c.7808T>C (p.Ile2603Thr) c.7805T>C (p.Ile2602Thr) c.1260T>C n.7891T>C | |
19 | g.38502700T>G | CA405672278 | RYR1 | c.7808T>G (p.Ile2603Ser) c.7805T>G (p.Ile2602Ser) c.1260T>G n.7891T>G | |
19 | g.38502701C>A | CA507243944 | RYR1 | c.7809C>A (p.Ile2603=) c.7806C>A (p.Ile2602=) c.1261C>A n.7892C>A | dbSNP |
19 | g.38502701C= | CA2335054430 | RYR1 | c.7809C= (p.Ile2603=) c.7806C= (p.Ile2602=) c.1261C= n.7892C= | |
19 | g.38502701C>G | CA405672289 | RYR1 | c.7809C>G (p.Ile2603Met) c.7806C>G (p.Ile2602Met) c.1261C>G n.7892C>G | gnomAD v4 |
19 | g.38502701C>T | CA070316 | RYR1 | c.7809C>T (p.Ile2603=) c.7806C>T (p.Ile2602=) c.1261C>T n.7892C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502702G>A | CA070323 | RYR1 | c.7810G>A (p.Glu2604Lys) c.7807G>A (p.Glu2603Lys) c.1262G>A n.7893G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38502702G>C | CA405672304 | RYR1 | c.7810G>C (p.Glu2604Gln) c.7807G>C (p.Glu2603Gln) c.1262G>C n.7893G>C | gnomAD v4 |
19 | g.38502702G= | CA2335054431 | RYR1 | c.7810G= (p.Glu2604=) c.7807G= (p.Glu2603=) c.1262G= n.7893G= | |
19 | g.38502702G>T | CA405672306 | RYR1 | c.7810G>T (p.Glu2604Ter) c.7807G>T (p.Glu2603Ter) c.1262G>T n.7893G>T | gnomAD v4 |
19 | g.38502703A>C | CA405672309 | RYR1 | c.7811A>C (p.Glu2604Ala) c.7808A>C (p.Glu2603Ala) c.1263A>C n.7894A>C | |
19 | g.38502703A>G | CA405672315 | RYR1 | c.7811A>G (p.Glu2604Gly) c.7808A>G (p.Glu2603Gly) c.1263A>G n.7894A>G | |
19 | g.38502703A>T | CA405672311 | RYR1 | c.7811A>T (p.Glu2604Val) c.7808A>T (p.Glu2603Val) c.1263A>T n.7894A>T | |
19 | g.38502704G>A | CA507243951 | RYR1 | c.7812G>A (p.Glu2604=) c.7809G>A (p.Glu2603=) c.1264G>A n.7895G>A | ClinVar gnomAD v4 |
19 | g.38502704G>C | CA405672316 | RYR1 | c.7812G>C (p.Glu2604Asp) c.7809G>C (p.Glu2603Asp) c.1264G>C n.7895G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502704G= | CA2335054432 | RYR1 | c.7812G= (p.Glu2604=) c.7809G= (p.Glu2603=) c.1264G= n.7895G= | |
19 | g.38502704G>T | CA405672318 | RYR1 | c.7812G>T (p.Glu2604Asp) c.7809G>T (p.Glu2603Asp) c.1264G>T n.7895G>T | gnomAD v4 |
19 | g.38502705G>A | CA070324 | RYR1 | c.7813G>A (p.Asp2605Asn) c.7810G>A (p.Asp2604Asn) c.1265G>A n.7896G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502705G>C | CA405672943 | RYR1 | c.7813G>C (p.Asp2605His) c.7810G>C (p.Asp2604His) c.1265G>C n.7896G>C | |
19 | g.38502705G= | CA2335054433 | RYR1 | c.7813G= (p.Asp2605=) c.7810G= (p.Asp2604=) c.1265G= n.7896G= | |
19 | g.38502705G>T | CA405672944 | RYR1 | c.7813G>T (p.Asp2605Tyr) c.7810G>T (p.Asp2604Tyr) c.1265G>T n.7896G>T | ClinVar dbSNP gnomAD v4 |
19 | g.38502706A= | CA2335054434 | RYR1 | c.7814A= (p.Asp2605=) c.7811A= (p.Asp2604=) c.1266A= n.7897A= | |
19 | g.38502706A>C | CA405672945 | RYR1 | c.7814A>C (p.Asp2605Ala) c.7811A>C (p.Asp2604Ala) c.1266A>C n.7897A>C | |
19 | g.38502706A>G | CA405672946 | RYR1 | c.7814A>G (p.Asp2605Gly) c.7811A>G (p.Asp2604Gly) c.1266A>G n.7897A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502706A>T | CA405672949 | RYR1 | c.7814A>T (p.Asp2605Val) c.7811A>T (p.Asp2604Val) c.1266A>T n.7897A>T | |
19 | g.38502707C>A | CA405672951 | RYR1 | c.7815C>A (p.Asp2605Glu) c.7812C>A (p.Asp2604Glu) c.1267C>A n.7898C>A | |
19 | g.38502707C= | CA2335054435 | RYR1 | c.7815C= (p.Asp2605=) c.7812C= (p.Asp2604=) c.1267C= n.7898C= | |
19 | g.38502707C>G | CA070329 | RYR1 | c.7815C>G (p.Asp2605Glu) c.7812C>G (p.Asp2604Glu) c.1267C>G n.7898C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502707C>T | CA070335 | RYR1 | c.7815C>T (p.Asp2605=) c.7812C>T (p.Asp2604=) c.1267C>T n.7898C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502708T>A | CA070340 | RYR1 | c.7816T>A (p.Cys2606Ser) c.7813T>A (p.Cys2605Ser) c.1268T>A n.7899T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502708T>C | CA405672957 | RYR1 | c.7816T>C (p.Cys2606Arg) c.7813T>C (p.Cys2605Arg) c.1268T>C n.7899T>C | |
19 | g.38502708T>G | CA405672956 | RYR1 | c.7816T>G (p.Cys2606Gly) c.7813T>G (p.Cys2605Gly) c.1268T>G n.7899T>G | |
19 | g.38502708T= | CA2335054436 | RYR1 | c.7816T= (p.Cys2606=) c.7813T= (p.Cys2605=) c.1268T= n.7899T= | |
19 | g.38502709G>A | CA405672958 | RYR1 | c.7817G>A (p.Cys2606Tyr) c.7814G>A (p.Cys2605Tyr) c.1269G>A n.7900G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502709G>C | CA405672961 | RYR1 | c.7817G>C (p.Cys2606Ser) c.7814G>C (p.Cys2605Ser) c.1269G>C n.7900G>C | |
19 | g.38502709G= | CA2335054437 | RYR1 | c.7817G= (p.Cys2606=) c.7814G= (p.Cys2605=) c.1269G= n.7900G= | |
19 | g.38502709G>T | CA405672959 | RYR1 | c.7817G>T (p.Cys2606Phe) c.7814G>T (p.Cys2605Phe) c.1269G>T n.7900G>T | gnomAD v4 |
19 | g.38502710C>A | CA405672963 | RYR1 | c.7818C>A (p.Cys2606Ter) c.7815C>A (p.Cys2605Ter) c.1270C>A n.7901C>A | |
19 | g.38502710C= | CA2335054438 | RYR1 | c.7818C= (p.Cys2606=) c.7815C= (p.Cys2605=) c.1270C= n.7901C= | |
19 | g.38502710C>G | CA082666 | RYR1 | c.7818C>G (p.Cys2606Trp) c.7815C>G (p.Cys2605Trp) c.1270C>G n.7901C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502710C>T | CA082669 | RYR1 | c.7818C>T (p.Cys2606=) c.7815C>T (p.Cys2605=) c.1270C>T n.7901C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502711C>A | CA405672967 | RYR1 | c.7819C>A (p.Leu2607Ile) c.7816C>A (p.Leu2606Ile) c.1271C>A n.7902C>A | |
19 | g.38502711C= | CA2335054439 | RYR1 | c.7819C= (p.Leu2607=) c.7816C= (p.Leu2606=) c.1271C= n.7902C= | |
19 | g.38502711C>G | CA405672970 | RYR1 | c.7819C>G (p.Leu2607Val) c.7816C>G (p.Leu2606Val) c.1271C>G n.7902C>G | gnomAD v4 |
19 | g.38502711C>T | CA070343 | RYR1 | c.7819C>T (p.Leu2607Phe) c.7816C>T (p.Leu2606Phe) c.1271C>T n.7902C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502712T>A | CA405672973 | RYR1 | c.7820T>A (p.Leu2607His) c.7817T>A (p.Leu2606His) c.1272T>A n.7903T>A | |
19 | g.38502712T>C | CA070351 | RYR1 | c.7820T>C (p.Leu2607Pro) c.7817T>C (p.Leu2606Pro) c.1272T>C n.7903T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502712T>G | CA405672979 | RYR1 | c.7820T>G (p.Leu2607Arg) c.7817T>G (p.Leu2606Arg) c.1272T>G n.7903T>G | |
19 | g.38502712T= | CA2335054440 | RYR1 | c.7820T= (p.Leu2607=) c.7817T= (p.Leu2606=) c.1272T= n.7903T= | |
19 | g.38502713C>A | CA507353936 | RYR1 | c.7821C>A (p.Leu2607=) c.7818C>A (p.Leu2606=) c.1273C>A n.7904C>A | |
19 | g.38502713C= | CA2335054441 | RYR1 | c.7821C= (p.Leu2607=) c.7818C= (p.Leu2606=) c.1273C= n.7904C= | |
19 | g.38502713C>G | CA507353937 | RYR1 | c.7821C>G (p.Leu2607=) c.7818C>G (p.Leu2606=) c.1273C>G n.7904C>G | gnomAD v4 |
19 | g.38502713C>T | CA507353938 | RYR1 | c.7821C>T (p.Leu2607=) c.7818C>T (p.Leu2606=) c.1273C>T n.7904C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502714A= | CA2335054442 | RYR1 | c.7822A= (p.Met2608=) c.7819A= (p.Met2607=) c.1274A= n.7905A= | |
19 | g.38502714A>C | CA405672981 | RYR1 | c.7822A>C (p.Met2608Leu) c.7819A>C (p.Met2607Leu) c.1274A>C n.7905A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502714A>G | CA405672983 | RYR1 | c.7822A>G (p.Met2608Val) c.7819A>G (p.Met2607Val) c.1274A>G n.7905A>G | dbSNP gnomAD v4 |
19 | g.38502714A>T | CA405672985 | RYR1 | c.7822A>T (p.Met2608Leu) c.7819A>T (p.Met2607Leu) c.1274A>T n.7905A>T | |
19 | g.38502714_38502727del | CA2584900602 | RYR1 | c.7822_7835del (p.Met2608ValfsTer?) c.7819_7832del (p.Met2607ValfsTer?) c.1274_1287del n.7905_7918del | gnomAD v4 |
19 | g.38502715del | CA2584900603 | RYR1 | c.7823del (p.Met2608SerfsTer?) c.7820del (p.Met2607SerfsTer?) c.1275del n.7906del | gnomAD v4 |
19 | g.38502715T>A | CA405672998 | RYR1 | c.7823T>A (p.Met2608Lys) c.7820T>A (p.Met2607Lys) c.1275T>A n.7906T>A | |
19 | g.38502715T>C | CA082674 | RYR1 | c.7823T>C (p.Met2608Thr) c.7820T>C (p.Met2607Thr) c.1275T>C n.7906T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502715T>G | CA405673006 | RYR1 | c.7823T>G (p.Met2608Arg) c.7820T>G (p.Met2607Arg) c.1275T>G n.7906T>G | ClinVar gnomAD v4 |
19 | g.38502715T= | CA2335054443 | RYR1 | c.7823T= (p.Met2608=) c.7820T= (p.Met2607=) c.1275T= n.7906T= | |
19 | g.38502716G>A | CA405673028 | RYR1 | c.7824G>A (p.Met2608Ile) c.7821G>A (p.Met2607Ile) c.1276G>A n.7907G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502716G>C | CA405673011 | RYR1 | c.7824G>C (p.Met2608Ile) c.7821G>C (p.Met2607Ile) c.1276G>C n.7907G>C | dbSNP gnomAD v4 |
19 | g.38502716G= | CA2335054444 | RYR1 | c.7824G= (p.Met2608=) c.7821G= (p.Met2607=) c.1276G= n.7907G= | |
19 | g.38502716G>T | CA405673009 | RYR1 | c.7824G>T (p.Met2608Ile) c.7821G>T (p.Met2607Ile) c.1276G>T n.7907G>T | gnomAD v4 |
19 | g.38502717T>A | CA405673029 | RYR1 | c.7825T>A (p.Ser2609Thr) c.7822T>A (p.Ser2608Thr) c.1277T>A n.7908T>A | |
19 | g.38502717T>C | CA405673030 | RYR1 | c.7825T>C (p.Ser2609Pro) c.7822T>C (p.Ser2608Pro) c.1277T>C n.7908T>C | |
19 | g.38502717T>G | CA405673031 | RYR1 | c.7825T>G (p.Ser2609Ala) c.7822T>G (p.Ser2608Ala) c.1277T>G n.7908T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502717T= | CA2335054445 | RYR1 | c.7825T= (p.Ser2609=) c.7822T= (p.Ser2608=) c.1277T= n.7908T= | |
19 | g.38502718C>A | CA405673033 | RYR1 | c.7826C>A (p.Ser2609Ter) c.7823C>A (p.Ser2608Ter) c.1278C>A n.7909C>A | gnomAD v3 gnomAD v4 |
19 | g.38502718C= | CA2335054446 | RYR1 | c.7826C= (p.Ser2609=) c.7823C= (p.Ser2608=) c.1278C= n.7909C= | |
19 | g.38502718C>G | CA405673034 | RYR1 | c.7826C>G (p.Ser2609Trp) c.7823C>G (p.Ser2608Trp) c.1278C>G n.7909C>G | ClinVar dbSNP |
19 | g.38502718C>T | CA070356 | RYR1 | c.7826C>T (p.Ser2609Leu) c.7823C>T (p.Ser2608Leu) c.1278C>T n.7909C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502719G>A | CA308112322 | RYR1 | c.7827G>A (p.Ser2609=) c.7824G>A (p.Ser2608=) c.1279G>A n.7910G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502719G>C | CA507353939 | RYR1 | c.7827G>C (p.Ser2609=) c.7824G>C (p.Ser2608=) c.1279G>C n.7910G>C | |
19 | g.38502719G= | CA2335054447 | RYR1 | c.7827G= (p.Ser2609=) c.7824G= (p.Ser2608=) c.1279G= n.7910G= | |
19 | g.38502719G>T | CA507353940 | RYR1 | c.7827G>T (p.Ser2609=) c.7824G>T (p.Ser2608=) c.1279G>T n.7910G>T | gnomAD v4 |
19 | g.38502720C>A | CA405673041 | RYR1 | c.7828C>A (p.Leu2610Ile) c.7825C>A (p.Leu2609Ile) c.1280C>A n.7911C>A | |
19 | g.38502720C= | CA2335054448 | RYR1 | c.7828C= (p.Leu2610=) c.7825C= (p.Leu2609=) c.1280C= n.7911C= | |
19 | g.38502720C>G | CA405673046 | RYR1 | c.7828C>G (p.Leu2610Val) c.7825C>G (p.Leu2609Val) c.1280C>G n.7911C>G | gnomAD v4 |
19 | g.38502720C>T | CA070357 | RYR1 | c.7828C>T (p.Leu2610Phe) c.7825C>T (p.Leu2609Phe) c.1280C>T n.7911C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502721T>A | CA405673066 | RYR1 | c.7829T>A (p.Leu2610His) c.7826T>A (p.Leu2609His) c.1281T>A n.7912T>A | |
19 | g.38502721T>C | CA405673069 | RYR1 | c.7829T>C (p.Leu2610Pro) c.7826T>C (p.Leu2609Pro) c.1281T>C n.7912T>C | |
19 | g.38502721T>G | CA405673073 | RYR1 | c.7829T>G (p.Leu2610Arg) c.7826T>G (p.Leu2609Arg) c.1281T>G n.7912T>G | gnomAD v4 |
19 | g.38502722C>A | CA507353941 | RYR1 | c.7830C>A (p.Leu2610=) c.7827C>A (p.Leu2609=) c.1282C>A n.7913C>A | |
19 | g.38502722C= | CA2335054449 | RYR1 | c.7830C= (p.Leu2610=) c.7827C= (p.Leu2609=) c.1282C= n.7913C= | |
19 | g.38502722C>G | CA507353942 | RYR1 | c.7830C>G (p.Leu2610=) c.7827C>G (p.Leu2609=) c.1282C>G n.7913C>G | ClinVar dbSNP |
19 | g.38502722C>T | CA070361 | RYR1 | c.7830C>T (p.Leu2610=) c.7827C>T (p.Leu2609=) c.1282C>T n.7913C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502723T>A | CA405673085 | RYR1 | c.7831T>A (p.Cys2611Ser) c.7828T>A (p.Cys2610Ser) c.1283T>A n.7914T>A | |
19 | g.38502723T>C | CA405673079 | RYR1 | c.7831T>C (p.Cys2611Arg) c.7828T>C (p.Cys2610Arg) c.1283T>C n.7914T>C | |
19 | g.38502723T>G | CA405673081 | RYR1 | c.7831T>G (p.Cys2611Gly) c.7828T>G (p.Cys2610Gly) c.1283T>G n.7914T>G | |
19 | g.38502724G>A | CA070367 | RYR1 | c.7832G>A (p.Cys2611Tyr) c.7829G>A (p.Cys2610Tyr) c.1284G>A n.7915G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502724G>C | CA405673106 | RYR1 | c.7832G>C (p.Cys2611Ser) c.7829G>C (p.Cys2610Ser) c.1284G>C n.7915G>C | gnomAD v4 |
19 | g.38502724G= | CA2335054450 | RYR1 | c.7832G= (p.Cys2611=) c.7829G= (p.Cys2610=) c.1284G= n.7915G= | |
19 | g.38502724G>T | CA405673108 | RYR1 | c.7832G>T (p.Cys2611Phe) c.7829G>T (p.Cys2610Phe) c.1284G>T n.7915G>T | gnomAD v4 |
19 | g.38502725C>A | CA405673111 | RYR1 | c.7833C>A (p.Cys2611Ter) c.7830C>A (p.Cys2610Ter) c.1285C>A n.7916C>A | |
19 | g.38502725C= | CA2335054451 | RYR1 | c.7833C= (p.Cys2611=) c.7830C= (p.Cys2610=) c.1285C= n.7916C= | |
19 | g.38502725C>G | CA405673114 | RYR1 | c.7833C>G (p.Cys2611Trp) c.7830C>G (p.Cys2610Trp) c.1285C>G n.7916C>G | |
19 | g.38502725C>T | CA082680 | RYR1 | c.7833C>T (p.Cys2611=) c.7830C>T (p.Cys2610=) c.1285C>T n.7916C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502726A= | CA2335054453 | RYR1 | c.7834A= (p.Arg2612=) c.7831A= (p.Arg2611=) c.1286A= n.7917A= | |
19 | g.38502726A>C | CA507353950 | RYR1 | c.7834A>C (p.Arg2612=) c.7831A>C (p.Arg2611=) c.1286A>C n.7917A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502726A>G | CA405673117 | RYR1 | c.7834A>G (p.Arg2612Gly) c.7831A>G (p.Arg2611Gly) c.1286A>G n.7917A>G | |
19 | g.38502726A>T | CA405673120 | RYR1 | c.7834A>T (p.Arg2612Trp) c.7831A>T (p.Arg2611Trp) c.1286A>T n.7917A>T | |
19 | g.38502726_38502747del | CA2576771078 | RYR1 | c.7834_7835+20del c.7831_7832+20del c.1286_1287+20del n.7917_7918+20del | gnomAD v4 |
19 | g.38502726_38502748delinsAGGTGGAGCGGGGCAGGCTTCAG | CA2335054452 | RYR1 | c.7834_7835+21delinsAGGTGGAGCGGGGCAGGCTTCAG c.7831_7832+21delinsAGGTGGAGCGGGGCAGGCTTCAG c.1286_1287+21delinsAGGTGGAGCGGGGCAGGCTTCAG n.7917_7918+21delinsAGGTGGAGCGGGGCAGGCTTCAG | |
19 | g.38502727G>A | CA070560 | RYR1 | c.7835G>A (p.Arg2612Lys) c.7832G>A (p.Arg2611Lys) c.1287G>A n.7918G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502727G>C | CA405673125 | RYR1 | c.7835G>C (p.Arg2612Thr) c.7832G>C (p.Arg2611Thr) c.1287G>C n.7918G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502727G= | CA2335054454 | RYR1 | c.7835G= (p.Arg2612=) c.7832G= (p.Arg2611=) c.1287G= n.7918G= | |
19 | g.38502727G>T | CA405673133 | RYR1 | c.7835G>T (p.Arg2612Met) c.7832G>T (p.Arg2611Met) c.1287G>T n.7918G>T | |
19 | g.38502731_38502732insGGCGGGGCAGGCTTCAGGGTGG | CA1139666423 | RYR1 | c.7835+4_7835+5insGGCGGGGCAGGCTTCAGGGTGG c.7832+4_7832+5insGGCGGGGCAGGCTTCAGGGTGG c.1287+4_1287+5insGGCGGGGCAGGCTTCAGGGTGG n.7918+4_7918+5insGGCGGGGCAGGCTTCAGGGTGG | ClinVar dbSNP |
19 | g.38502732_38502753dup | CA2523901509 | RYR1 | c.7835+5_7835+26dup c.7832+5_7832+26dup c.1287+5_1287+26dup n.7918+5_7918+26dup | ClinVar dbSNP gnomAD v4 |
19 | g.38502732_38502753del | CA9415818 | RYR1 | c.7835+5_7835+26del c.7832+5_7832+26del c.1287+5_1287+26del n.7918+5_7918+26del | dbSNP ExAC |
19 | g.38502728G>A | CA16607795 | RYR1 | c.7835+1G>A (n.7835+1G>A) c.7832+1G>A (n.7832+1G>A) c.1287+1G>A n.7918+1G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38502728G>C | CA405673138 | RYR1 | c.7835+1G>C (n.7835+1G>C) c.7832+1G>C (n.7832+1G>C) c.1287+1G>C n.7918+1G>C | gnomAD v4 |
19 | g.38502728G= | CA2335054455 | RYR1 | c.7835+1G= (n.7835+1G=) c.7832+1G= (n.7832+1G=) c.1287+1G= n.7918+1G= | |
19 | g.38502728G>T | CA405673142 | RYR1 | c.7835+1G>T (n.7835+1G>T) c.7832+1G>T (n.7832+1G>T) c.1287+1G>T n.7918+1G>T | dbSNP gnomAD v4 |
19 | g.38502729T>A | CA405673147 | RYR1 | c.7835+2T>A (n.7835+2T>A) c.7832+2T>A (n.7832+2T>A) c.1287+2T>A n.7918+2T>A | gnomAD v4 |
19 | g.38502729T>C | CA405673150 | RYR1 | c.7835+2T>C (n.7835+2T>C) c.7832+2T>C (n.7832+2T>C) c.1287+2T>C n.7918+2T>C | dbSNP |
19 | g.38502729T>G | CA405673152 | RYR1 | c.7835+2T>G (n.7835+2T>G) c.7832+2T>G (n.7832+2T>G) c.1287+2T>G n.7918+2T>G | ClinVar dbSNP gnomAD v4 |
19 | g.38502729T= | CA2335054456 | RYR1 | c.7835+2T= (n.7835+2T=) c.7832+2T= (n.7832+2T=) c.1287+2T= n.7918+2T= | |
19 | g.38502729_38502734delinsTGGAGC | CA2335054458 | RYR1 | c.7835+2_7835+7delinsTGGAGC (n.7835+2_7835+7delinsTGGAGC) c.7832+2_7832+7delinsTGGAGC (n.7832+2_7832+7delinsTGGAGC) c.1287+2_1287+7delinsTGGAGC n.7918+2_7918+7delinsTGGAGC | |
19 | g.38502729_38502769delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA | CA2335054457 | RYR1 | c.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA (n.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA) c.7832+2_7832+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA (n.7832+2_7832+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA) c.1287+2_1287+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA n.7918+2_7918+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA | |
19 | g.38502730G>A | CA995717297 | RYR1 | c.7835+3G>A (n.7835+3G>A) c.7832+3G>A (n.7832+3G>A) c.1287+3G>A n.7918+3G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502730G= | CA2335054460 | RYR1 | c.7835+3G= (n.7835+3G=) c.7832+3G= (n.7832+3G=) c.1287+3G= n.7918+3G= | |
19 | g.38502730G>T | CA308112361 | RYR1 | c.7835+3G>T (n.7835+3G>T) c.7832+3G>T (n.7832+3G>T) c.1287+3G>T n.7918+3G>T | dbSNP gnomAD v4 |
19 | g.38502731_38502732insGGCGG | CA070443 | RYR1 | c.7835+4_7835+5insGGCGG (n.7835+4_7835+5insGGCGG) c.7832+4_7832+5insGGCGG (n.7832+4_7832+5insGGCGG) c.1287+4_1287+5insGGCGG n.7918+4_7918+5insGGCGG | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502731dup | CA2335054461 | RYR1 | c.7835+4dup (n.7835+4dup) c.7832+4dup (n.7832+4dup) c.1287+4dup n.7918+4dup | dbSNP gnomAD v4 |
19 | g.38502732_38502736del | CA633066203 | RYR1 | c.7835+5_7835+9del (n.7835+5_7835+9del) c.7832+5_7832+9del (n.7832+5_7832+9del) c.1287+5_1287+9del n.7918+5_7918+9del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502730_38502746dup | CA920105547 | RYR1 | c.7835+3_7835+19dup (n.7835+3_7835+19dup) c.7832+3_7832+19dup (n.7832+3_7832+19dup) c.1287+3_1287+19dup n.7918+3_7918+19dup | ClinVar dbSNP gnomAD v4 |
19 | g.38502730_38502747delinsGGAGCGGGGCAGGCTTCA | CA2335054459 | RYR1 | c.7835+3_7835+20delinsGGAGCGGGGCAGGCTTCA (n.7835+3_7835+20delinsGGAGCGGGGCAGGCTTCA) c.7832+3_7832+20delinsGGAGCGGGGCAGGCTTCA (n.7832+3_7832+20delinsGGAGCGGGGCAGGCTTCA) c.1287+3_1287+20delinsGGAGCGGGGCAGGCTTCA n.7918+3_7918+20delinsGGAGCGGGGCAGGCTTCA | |
19 | g.38502732_38502771del | CA633066204 | RYR1 | c.7835+5_7835+44del (n.7835+5_7835+44del) c.7832+5_7832+44del (n.7832+5_7832+44del) c.1287+5_1287+44del n.7918+5_7918+44del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502731G>A | CA9415821 | RYR1 | c.7835+4G>A (n.7835+4G>A) c.7832+4G>A (n.7832+4G>A) c.1287+4G>A n.7918+4G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502731G= | CA2335054464 | RYR1 | c.7835+4G= (n.7835+4G=) c.7832+4G= (n.7832+4G=) c.1287+4G= n.7918+4G= | |
19 | g.38502731G>T | CA2584900605 | RYR1 | c.7835+4G>T (n.7835+4G>T) c.7832+4G>T (n.7832+4G>T) c.1287+4G>T n.7918+4G>T | gnomAD v4 |
19 | g.38502731_38502732delinsAG | CA2499225470 | RYR1 | c.7835+4_7835+5delinsAG (n.7835+4_7835+5delinsAG) c.7832+4_7832+5delinsAG (n.7832+4_7832+5delinsAG) c.1287+4_1287+5delinsAG n.7918+4_7918+5delinsAG | ClinVar dbSNP |
19 | g.38502731_38502734delinsGAGC | CA2335054463 | RYR1 | c.7835+4_7835+7delinsGAGC (n.7835+4_7835+7delinsGAGC) c.7832+4_7832+7delinsGAGC (n.7832+4_7832+7delinsGAGC) c.1287+4_1287+7delinsGAGC n.7918+4_7918+7delinsGAGC | |
19 | g.38502732_38502748dup | CA2584900604 | RYR1 | c.7835+5_7835+21dup (n.7835+5_7835+21dup) c.7832+5_7832+21dup (n.7832+5_7832+21dup) c.1287+5_1287+21dup n.7918+5_7918+21dup | ClinVar gnomAD v4 |
19 | g.38502732_38502748del | CA2335054462 | RYR1 | c.7835+5_7835+21del (n.7835+5_7835+21del) c.7832+5_7832+21del (n.7832+5_7832+21del) c.1287+5_1287+21del n.7918+5_7918+21del | dbSNP |