Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38499684G>A | CA507353842 | RYR1 | c.7077G>A (p.Arg2359=) c.7074G>A (p.Arg2358=) c.529G>A n.7160G>A | gnomAD v4 |
19 | g.38499684G>C | CA507353843 | RYR1 | c.7077G>C (p.Arg2359=) c.7074G>C (p.Arg2358=) c.529G>C n.7160G>C | |
19 | g.38499684G= | CA2335052873 | RYR1 | c.7077G= (p.Arg2359=) c.7074G= (p.Arg2358=) c.529G= n.7160G= | |
19 | g.38499684G>T | CA069107 | RYR1 | c.7077G>T (p.Arg2359=) c.7074G>T (p.Arg2358=) c.529G>T n.7160G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499685A>C | CA405667965 | RYR1 | c.7078A>C (p.Lys2360Gln) c.7075A>C (p.Lys2359Gln) c.530A>C n.7161A>C | |
19 | g.38499685A>G | CA405667964 | RYR1 | c.7078A>G (p.Lys2360Glu) c.7075A>G (p.Lys2359Glu) c.530A>G n.7161A>G | |
19 | g.38499685A>T | CA405667962 | RYR1 | c.7078A>T (p.Lys2360Ter) c.7075A>T (p.Lys2359Ter) c.530A>T n.7161A>T | |
19 | g.38499686A>C | CA405667969 | RYR1 | c.7079A>C (p.Lys2360Thr) c.7076A>C (p.Lys2359Thr) c.531A>C n.7162A>C | |
19 | g.38499686A>G | CA405667970 | RYR1 | c.7079A>G (p.Lys2360Arg) c.7076A>G (p.Lys2359Arg) c.531A>G n.7162A>G | |
19 | g.38499686A>T | CA405667971 | RYR1 | c.7079A>T (p.Lys2360Met) c.7076A>T (p.Lys2359Met) c.531A>T n.7162A>T | |
19 | g.38499687G>A | CA507353844 | RYR1 | c.7080G>A (p.Lys2360=) c.7077G>A (p.Lys2359=) c.532G>A n.7163G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499687G>C | CA405667972 | RYR1 | c.7080G>C (p.Lys2360Asn) c.7077G>C (p.Lys2359Asn) c.532G>C n.7163G>C | |
19 | g.38499687G= | CA2335052874 | RYR1 | c.7080G= (p.Lys2360=) c.7077G= (p.Lys2359=) c.532G= n.7163G= | |
19 | g.38499687G>T | CA082324 | RYR1 | c.7080G>T (p.Lys2360Asn) c.7077G>T (p.Lys2359Asn) c.532G>T n.7163G>T | gnomAD v4 |
19 | g.38499687dup | CA2695228666 | RYR1 | c.7080dup (p.Pro2361AlafsTer2) c.7077dup (p.Pro2360AlafsTer2) c.532dup n.7163dup | |
19 | g.38499688C>A | CA405667973 | RYR1 | c.7081C>A (p.Pro2361Thr) c.7078C>A (p.Pro2360Thr) c.533C>A n.7164C>A | gnomAD v4 |
19 | g.38499688C>G | CA405667974 | RYR1 | c.7081C>G (p.Pro2361Ala) c.7078C>G (p.Pro2360Ala) c.533C>G n.7164C>G | |
19 | g.38499688C>T | CA405667977 | RYR1 | c.7081C>T (p.Pro2361Ser) c.7078C>T (p.Pro2360Ser) c.533C>T n.7164C>T | gnomAD v4 |
19 | g.38499689C>A | CA405667979 | RYR1 | c.7082C>A (p.Pro2361His) c.7079C>A (p.Pro2360His) c.534C>A n.7165C>A | gnomAD v4 |
19 | g.38499689C= | CA2335052875 | RYR1 | c.7082C= (p.Pro2361=) c.7079C= (p.Pro2360=) c.534C= n.7165C= | |
19 | g.38499689C>G | CA405667980 | RYR1 | c.7082C>G (p.Pro2361Arg) c.7079C>G (p.Pro2360Arg) c.534C>G n.7165C>G | ClinVar dbSNP |
19 | g.38499689C>T | CA405667982 | RYR1 | c.7082C>T (p.Pro2361Leu) c.7079C>T (p.Pro2360Leu) c.534C>T n.7165C>T | |
19 | g.38499690T>A | CA507353845 | RYR1 | c.7083T>A (p.Pro2361=) c.7080T>A (p.Pro2360=) c.535T>A n.7166T>A | gnomAD v4 |
19 | g.38499690T>C | CA507353847 | RYR1 | c.7083T>C (p.Pro2361=) c.7080T>C (p.Pro2360=) c.535T>C n.7166T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499690T>G | CA507353846 | RYR1 | c.7083T>G (p.Pro2361=) c.7080T>G (p.Pro2360=) c.535T>G n.7166T>G | |
19 | g.38499690T= | CA2335052876 | RYR1 | c.7083T= (p.Pro2361=) c.7080T= (p.Pro2360=) c.535T= n.7166T= | |
19 | g.38499691G>A | CA069115 | RYR1 | c.7084G>A (p.Glu2362Lys) c.7081G>A (p.Glu2361Lys) c.536G>A n.7167G>A | ClinVar dbSNP ExAC |
19 | g.38499691G>C | CA405667985 | RYR1 | c.7084G>C (p.Glu2362Gln) c.7081G>C (p.Glu2361Gln) c.536G>C n.7167G>C | |
19 | g.38499691G= | CA2335052877 | RYR1 | c.7084G= (p.Glu2362=) c.7081G= (p.Glu2361=) c.536G= n.7167G= | |
19 | g.38499691G>T | CA405667987 | RYR1 | c.7084G>T (p.Glu2362Ter) c.7081G>T (p.Glu2361Ter) c.536G>T n.7167G>T | gnomAD v4 |
19 | g.38499692A= | CA2335052878 | RYR1 | c.7085A= (p.Glu2362=) c.7082A= (p.Glu2361=) c.537A= n.7168A= | |
19 | g.38499692A>C | CA405667991 | RYR1 | c.7085A>C (p.Glu2362Ala) c.7082A>C (p.Glu2361Ala) c.537A>C n.7168A>C | |
19 | g.38499692A>G | CA024696 | RYR1 | c.7085A>G (p.Glu2362Gly) c.7082A>G (p.Glu2361Gly) c.537A>G n.7168A>G | ClinVar dbSNP |
19 | g.38499692A>T | CA405667989 | RYR1 | c.7085A>T (p.Glu2362Val) c.7082A>T (p.Glu2361Val) c.537A>T n.7168A>T | gnomAD v4 |
19 | g.38499693G>A | CA507353848 | RYR1 | c.7086G>A (p.Glu2362=) c.7083G>A (p.Glu2361=) c.538G>A n.7169G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499693G>C | CA405667994 | RYR1 | c.7086G>C (p.Glu2362Asp) c.7083G>C (p.Glu2361Asp) c.538G>C n.7169G>C | |
19 | g.38499693G= | CA2335052879 | RYR1 | c.7086G= (p.Glu2362=) c.7083G= (p.Glu2361=) c.538G= n.7169G= | |
19 | g.38499693G>T | CA405667997 | RYR1 | c.7086G>T (p.Glu2362Asp) c.7083G>T (p.Glu2361Asp) c.538G>T n.7169G>T | |
19 | g.38499694T>A | CA405668000 | RYR1 | c.7087T>A (p.Cys2363Ser) c.7084T>A (p.Cys2362Ser) c.539T>A n.7170T>A | |
19 | g.38499694T>C | CA308109461 | RYR1 | c.7087T>C (p.Cys2363Arg) c.7084T>C (p.Cys2362Arg) c.539T>C n.7170T>C | dbSNP gnomAD v4 |
19 | g.38499694T>G | CA405668003 | RYR1 | c.7087T>G (p.Cys2363Gly) c.7084T>G (p.Cys2362Gly) c.539T>G n.7170T>G | |
19 | g.38499694T= | CA2335052880 | RYR1 | c.7087T= (p.Cys2363=) c.7084T= (p.Cys2362=) c.539T= n.7170T= | |
19 | g.38499695G>A | CA405668004 | RYR1 | c.7088G>A (p.Cys2363Tyr) c.7085G>A (p.Cys2362Tyr) c.540G>A n.7171G>A | |
19 | g.38499695G>C | CA405668005 | RYR1 | c.7088G>C (p.Cys2363Ser) c.7085G>C (p.Cys2362Ser) c.540G>C n.7171G>C | |
19 | g.38499695G>T | CA405668006 | RYR1 | c.7088G>T (p.Cys2363Phe) c.7085G>T (p.Cys2362Phe) c.540G>T n.7171G>T | gnomAD v4 |
19 | g.38499696del | CA995715518 | RYR1 | c.7089del (p.Phe2364SerfsTer?) c.7086del (p.Phe2363SerfsTer?) c.541del n.7172del | gnomAD v3 gnomAD v4 |
19 | g.38499696C>A | CA405668008 | RYR1 | c.7089C>A (p.Cys2363Ter) c.7086C>A (p.Cys2362Ter) c.541C>A n.7172C>A | gnomAD v4 |
19 | g.38499696C= | CA2335052881 | RYR1 | c.7089C= (p.Cys2363=) c.7086C= (p.Cys2362=) c.541C= n.7172C= | |
19 | g.38499696C>G | CA405668010 | RYR1 | c.7089C>G (p.Cys2363Trp) c.7086C>G (p.Cys2362Trp) c.541C>G n.7172C>G | ClinVar dbSNP |
19 | g.38499696C>T | CA024700 | RYR1 | c.7089C>T (p.Cys2363=) c.7086C>T (p.Cys2362=) c.541C>T n.7172C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499697T>A | CA405668012 | RYR1 | c.7090T>A (p.Phe2364Ile) c.7087T>A (p.Phe2363Ile) c.542T>A n.7173T>A | |
19 | g.38499697T>C | CA405668014 | RYR1 | c.7090T>C (p.Phe2364Leu) c.7087T>C (p.Phe2363Leu) c.542T>C n.7173T>C | gnomAD v4 |
19 | g.38499697T>G | CA024702 | RYR1 | c.7090T>G (p.Phe2364Val) c.7087T>G (p.Phe2363Val) c.542T>G n.7173T>G | ClinVar dbSNP gnomAD v4 |
19 | g.38499697T= | CA2335052882 | RYR1 | c.7090T= (p.Phe2364=) c.7087T= (p.Phe2363=) c.542T= n.7173T= | |
19 | g.38499697_38499698insAGATC | CA995715519 | RYR1 | c.7090_7091insAGATC (p.Phe2364Ter) c.7087_7088insAGATC (p.Phe2363Ter) c.542_543insAGATC n.7173_7174insAGATC | gnomAD v3 gnomAD v4 |
19 | g.38499698T>A | CA405668024 | RYR1 | c.7091T>A (p.Phe2364Tyr) c.7088T>A (p.Phe2363Tyr) c.543T>A n.7174T>A | |
19 | g.38499698T>C | CA405668025 | RYR1 | c.7091T>C (p.Phe2364Ser) c.7088T>C (p.Phe2363Ser) c.543T>C n.7174T>C | |
19 | g.38499698T>G | CA405668021 | RYR1 | c.7091T>G (p.Phe2364Cys) c.7088T>G (p.Phe2363Cys) c.543T>G n.7174T>G | |
19 | g.38499699C>A | CA405668028 | RYR1 | c.7092C>A (p.Phe2364Leu) c.7089C>A (p.Phe2363Leu) c.544C>A n.7175C>A | gnomAD v4 |
19 | g.38499699C= | CA2335052883 | RYR1 | c.7092C= (p.Phe2364=) c.7089C= (p.Phe2363=) c.544C= n.7175C= | |
19 | g.38499699C>G | CA405668029 | RYR1 | c.7092C>G (p.Phe2364Leu) c.7089C>G (p.Phe2363Leu) c.544C>G n.7175C>G | |
19 | g.38499699C>T | CA069122 | RYR1 | c.7092C>T (p.Phe2364=) c.7089C>T (p.Phe2363=) c.544C>T n.7175C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499702_38499714del | CA2576771077 | RYR1 | c.7095_7107del (p.Pro2366ValfsTer?) c.7092_7104del (p.Pro2365ValfsTer?) c.547_559del n.7178_7190del | |
19 | g.38499700G>A | CA069126 | RYR1 | c.7093G>A (p.Gly2365Arg) c.7090G>A (p.Gly2364Arg) c.545G>A n.7176G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499700G>C | CA405668030 | RYR1 | c.7093G>C (p.Gly2365Arg) c.7090G>C (p.Gly2364Arg) c.545G>C n.7176G>C | dbSNP |
19 | g.38499700G= | CA2335052884 | RYR1 | c.7093G= (p.Gly2365=) c.7090G= (p.Gly2364=) c.545G= n.7176G= | |
19 | g.38499700G>T | CA405668033 | RYR1 | c.7093G>T (p.Gly2365Ter) c.7090G>T (p.Gly2364Ter) c.545G>T n.7176G>T | dbSNP gnomAD v4 |
19 | g.38499701G>A | CA405668034 | RYR1 | c.7094G>A (p.Gly2365Glu) c.7091G>A (p.Gly2364Glu) c.546G>A n.7177G>A | |
19 | g.38499701G>C | CA405668035 | RYR1 | c.7094G>C (p.Gly2365Ala) c.7091G>C (p.Gly2364Ala) c.546G>C n.7177G>C | |
19 | g.38499701G>T | CA405668036 | RYR1 | c.7094G>T (p.Gly2365Val) c.7091G>T (p.Gly2364Val) c.546G>T n.7177G>T | gnomAD v4 |
19 | g.38499702A= | CA2335052885 | RYR1 | c.7095A= (p.Gly2365=) c.7092A= (p.Gly2364=) c.547A= n.7178A= | |
19 | g.38499702A>C | CA507353849 | RYR1 | c.7095A>C (p.Gly2365=) c.7092A>C (p.Gly2364=) c.547A>C n.7178A>C | dbSNP |
19 | g.38499702A>G | CA507353850 | RYR1 | c.7095A>G (p.Gly2365=) c.7092A>G (p.Gly2364=) c.547A>G n.7178A>G | |
19 | g.38499702A>T | CA507353851 | RYR1 | c.7095A>T (p.Gly2365=) c.7092A>T (p.Gly2364=) c.547A>T n.7178A>T | |
19 | g.38499702_38499709del | CA2584900036 | RYR1 | c.7095_7102del (p.Pro2366AlafsTer3) c.7092_7099del (p.Pro2365AlafsTer3) c.547_554del n.7178_7185del | gnomAD v4 |
19 | g.38499703C>A | CA405668037 | RYR1 | c.7096C>A (p.Pro2366Thr) c.7093C>A (p.Pro2365Thr) c.548C>A n.7179C>A | gnomAD v4 |
19 | g.38499703C>G | CA405668038 | RYR1 | c.7096C>G (p.Pro2366Ala) c.7093C>G (p.Pro2365Ala) c.548C>G n.7179C>G | |
19 | g.38499703C>T | CA405668039 | RYR1 | c.7096C>T (p.Pro2366Ser) c.7093C>T (p.Pro2365Ser) c.548C>T n.7179C>T | gnomAD v4 |
19 | g.38499704C>A | CA405668042 | RYR1 | c.7097C>A (p.Pro2366His) c.7094C>A (p.Pro2365His) c.549C>A n.7180C>A | gnomAD v4 |
19 | g.38499704C= | CA2335052886 | RYR1 | c.7097C= (p.Pro2366=) c.7094C= (p.Pro2365=) c.549C= n.7180C= | |
19 | g.38499704C>G | CA024705 | RYR1 | c.7097C>G (p.Pro2366Arg) c.7094C>G (p.Pro2365Arg) c.549C>G n.7180C>G | ClinVar dbSNP |
19 | g.38499704C>T | CA405668041 | RYR1 | c.7097C>T (p.Pro2366Leu) c.7094C>T (p.Pro2365Leu) c.549C>T n.7180C>T | |
19 | g.38499705C>A | CA069130 | RYR1 | c.7098C>A (p.Pro2366=) c.7095C>A (p.Pro2365=) c.550C>A n.7181C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499705C= | CA2335052887 | RYR1 | c.7098C= (p.Pro2366=) c.7095C= (p.Pro2365=) c.550C= n.7181C= | |
19 | g.38499705C>G | CA507353852 | RYR1 | c.7098C>G (p.Pro2366=) c.7095C>G (p.Pro2365=) c.550C>G n.7181C>G | |
19 | g.38499705C>T | CA024708 | RYR1 | c.7098C>T (p.Pro2366=) c.7095C>T (p.Pro2365=) c.550C>T n.7181C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499706del | CA2838201304 | RYR1 | c.7099del (p.Ala2367ProfsTer?) c.7096del (p.Ala2366ProfsTer?) c.551del n.7182del | |
19 | g.38499706G>A | CA024711 | RYR1 | c.7099G>A (p.Ala2367Thr) c.7096G>A (p.Ala2366Thr) c.551G>A n.7182G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499706G>C | CA405668043 | RYR1 | c.7099G>C (p.Ala2367Pro) c.7096G>C (p.Ala2366Pro) c.551G>C n.7182G>C | |
19 | g.38499706G= | CA2335052888 | RYR1 | c.7099G= (p.Ala2367=) c.7096G= (p.Ala2366=) c.551G= n.7182G= | |
19 | g.38499706G>T | CA308109524 | RYR1 | c.7099G>T (p.Ala2367Ser) c.7096G>T (p.Ala2366Ser) c.551G>T n.7182G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499707C>A | CA405668048 | RYR1 | c.7100C>A (p.Ala2367Asp) c.7097C>A (p.Ala2366Asp) c.552C>A n.7183C>A | |
19 | g.38499707C= | CA2335052889 | RYR1 | c.7100C= (p.Ala2367=) c.7097C= (p.Ala2366=) c.552C= n.7183C= | |
19 | g.38499707C>G | CA405668049 | RYR1 | c.7100C>G (p.Ala2367Gly) c.7097C>G (p.Ala2366Gly) c.552C>G n.7183C>G | |
19 | g.38499707C>T | CA069143 | RYR1 | c.7100C>T (p.Ala2367Val) c.7097C>T (p.Ala2366Val) c.552C>T n.7183C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499708C>A | CA082328 | RYR1 | c.7101C>A (p.Ala2367=) c.7098C>A (p.Ala2366=) c.553C>A n.7184C>A | |
19 | g.38499708C= | CA2335052890 | RYR1 | c.7101C= (p.Ala2367=) c.7098C= (p.Ala2366=) c.553C= n.7184C= | |
19 | g.38499708C>G | CA507353853 | RYR1 | c.7101C>G (p.Ala2367=) c.7098C>G (p.Ala2366=) c.553C>G n.7184C>G | |
19 | g.38499708C>T | CA082329 | RYR1 | c.7101C>T (p.Ala2367=) c.7098C>T (p.Ala2366=) c.553C>T n.7184C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499709C>A | CA405668055 | RYR1 | c.7102C>A (p.Leu2368Met) c.7099C>A (p.Leu2367Met) c.554C>A n.7185C>A | gnomAD v4 |
19 | g.38499709C= | CA2335052891 | RYR1 | c.7102C= (p.Leu2368=) c.7099C= (p.Leu2367=) c.554C= n.7185C= | |
19 | g.38499709C>G | CA069148 | RYR1 | c.7102C>G (p.Leu2368Val) c.7099C>G (p.Leu2367Val) c.554C>G n.7185C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499709C>T | CA024715 | RYR1 | c.7102C>T (p.Leu2368=) c.7099C>T (p.Leu2367=) c.554C>T n.7185C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499710T>A | CA405668067 | RYR1 | c.7103T>A (p.Leu2368Gln) c.7100T>A (p.Leu2367Gln) c.555T>A n.7186T>A | |
19 | g.38499710T>C | CA405668074 | RYR1 | c.7103T>C (p.Leu2368Pro) c.7100T>C (p.Leu2367Pro) c.555T>C n.7186T>C | dbSNP |
19 | g.38499710T>G | CA405668073 | RYR1 | c.7103T>G (p.Leu2368Arg) c.7100T>G (p.Leu2367Arg) c.555T>G n.7186T>G | |
19 | g.38499710T= | CA2335052892 | RYR1 | c.7103T= (p.Leu2368=) c.7100T= (p.Leu2367=) c.555T= n.7186T= | |
19 | g.38499711G>A | CA507353854 | RYR1 | c.7104G>A (p.Leu2368=) c.7101G>A (p.Leu2367=) c.556G>A n.7187G>A | gnomAD v4 |
19 | g.38499711G>C | CA507353855 | RYR1 | c.7104G>C (p.Leu2368=) c.7101G>C (p.Leu2367=) c.556G>C n.7187G>C | |
19 | g.38499711G>T | CA507353856 | RYR1 | c.7104G>T (p.Leu2368=) c.7101G>T (p.Leu2367=) c.556G>T n.7187G>T | gnomAD v4 |
19 | g.38499712_38499721del | CA995715538 | RYR1 | c.7105_7114del (p.Arg2369ValfsTer?) c.7102_7111del (p.Arg2368ValfsTer?) c.557_566del n.7188_7197del | gnomAD v3 gnomAD v4 |
19 | g.38499712del | CA2843262409 | RYR1 | c.7105del (p.Arg2369GlyfsTer?) c.7102del (p.Arg2368GlyfsTer?) c.557del n.7188del | |
19 | g.38499712C>A | CA069152 | RYR1 | c.7105C>A (p.Arg2369=) c.7102C>A (p.Arg2368=) c.557C>A n.7188C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499712C= | CA2335052893 | RYR1 | c.7105C= (p.Arg2369=) c.7102C= (p.Arg2368=) c.557C= n.7188C= | |
19 | g.38499712C>G | CA082332 | RYR1 | c.7105C>G (p.Arg2369Gly) c.7102C>G (p.Arg2368Gly) c.557C>G n.7188C>G | gnomAD v4 |
19 | g.38499712C>T | CA405668091 | RYR1 | c.7105C>T (p.Arg2369Trp) c.7102C>T (p.Arg2368Trp) c.557C>T n.7188C>T | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.38499713G>A | CA069158 | RYR1 | c.7106G>A (p.Arg2369Gln) c.7103G>A (p.Arg2368Gln) c.558G>A n.7189G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38499713G>C | CA405668104 | RYR1 | c.7106G>C (p.Arg2369Pro) c.7103G>C (p.Arg2368Pro) c.558G>C n.7189G>C | |
19 | g.38499713G= | CA2335052894 | RYR1 | c.7106G= (p.Arg2369=) c.7103G= (p.Arg2368=) c.558G= n.7189G= | |
19 | g.38499713G>T | CA405668100 | RYR1 | c.7106G>T (p.Arg2369Leu) c.7103G>T (p.Arg2368Leu) c.558G>T n.7189G>T | dbSNP gnomAD v4 |
19 | g.38499716del | CA2584900037 | RYR1 | c.7109del (p.Gly2370ValfsTer?) c.7106del (p.Gly2369ValfsTer?) c.561del n.7192del | gnomAD v4 |
19 | g.38499714G>A | CA507353857 | RYR1 | c.7107G>A (p.Arg2369=) c.7104G>A (p.Arg2368=) c.559G>A n.7190G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38499714G>C | CA507353858 | RYR1 | c.7107G>C (p.Arg2369=) c.7104G>C (p.Arg2368=) c.559G>C n.7190G>C | |
19 | g.38499714G>T | CA507353859 | RYR1 | c.7107G>T (p.Arg2369=) c.7104G>T (p.Arg2368=) c.559G>T n.7190G>T | gnomAD v4 |
19 | g.38499715G>A | CA308109549 | RYR1 | c.7108G>A (p.Gly2370Ser) c.7105G>A (p.Gly2369Ser) c.560G>A n.7191G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499715G>C | CA405668121 | RYR1 | c.7108G>C (p.Gly2370Arg) c.7105G>C (p.Gly2369Arg) c.560G>C n.7191G>C | |
19 | g.38499715G= | CA2335052895 | RYR1 | c.7108G= (p.Gly2370=) c.7105G= (p.Gly2369=) c.560G= n.7191G= | |
19 | g.38499715G>T | CA405668126 | RYR1 | c.7108G>T (p.Gly2370Cys) c.7105G>T (p.Gly2369Cys) c.560G>T n.7191G>T | gnomAD v4 |
19 | g.38499716G>A | CA082334 | RYR1 | c.7109G>A (p.Gly2370Asp) c.7106G>A (p.Gly2369Asp) c.561G>A n.7192G>A | gnomAD v4 |
19 | g.38499716G>C | CA405668129 | RYR1 | c.7109G>C (p.Gly2370Ala) c.7106G>C (p.Gly2369Ala) c.561G>C n.7192G>C | |
19 | g.38499716G= | CA2335052896 | RYR1 | c.7109G= (p.Gly2370=) c.7106G= (p.Gly2369=) c.561G= n.7192G= | |
19 | g.38499716G>T | CA405668130 | RYR1 | c.7109G>T (p.Gly2370Val) c.7106G>T (p.Gly2369Val) c.561G>T n.7192G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499717T>A | CA507353860 | RYR1 | c.7110T>A (p.Gly2370=) c.7107T>A (p.Gly2369=) c.562T>A n.7193T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499717T>C | CA507353861 | RYR1 | c.7110T>C (p.Gly2370=) c.7107T>C (p.Gly2369=) c.562T>C n.7193T>C | gnomAD v4 |
19 | g.38499717T>G | CA507353862 | RYR1 | c.7110T>G (p.Gly2370=) c.7107T>G (p.Gly2369=) c.562T>G n.7193T>G | |
19 | g.38499717T= | CA2335052897 | RYR1 | c.7110T= (p.Gly2370=) c.7107T= (p.Gly2369=) c.562T= n.7193T= | |
19 | g.38499718G>A | CA16043555 | RYR1 | c.7111G>A (p.Glu2371Lys) c.7108G>A (p.Glu2370Lys) c.563G>A n.7194G>A | ClinVar dbSNP |
19 | g.38499718G>C | CA405668151 | RYR1 | c.7111G>C (p.Glu2371Gln) c.7108G>C (p.Glu2370Gln) c.563G>C n.7194G>C | |
19 | g.38499718G= | CA2335052898 | RYR1 | c.7111G= (p.Glu2371=) c.7108G= (p.Glu2370=) c.563G= n.7194G= | |
19 | g.38499718G>T | CA405668153 | RYR1 | c.7111G>T (p.Glu2371Ter) c.7108G>T (p.Glu2370Ter) c.563G>T n.7194G>T | gnomAD v4 |
19 | g.38499719A>C | CA405668162 | RYR1 | c.7112A>C (p.Glu2371Ala) c.7109A>C (p.Glu2370Ala) c.564A>C n.7195A>C | |
19 | g.38499719A>G | CA405668159 | RYR1 | c.7112A>G (p.Glu2371Gly) c.7109A>G (p.Glu2370Gly) c.564A>G n.7195A>G | ClinVar dbSNP gnomAD v4 |
19 | g.38499719A>T | CA405668158 | RYR1 | c.7112A>T (p.Glu2371Val) c.7109A>T (p.Glu2370Val) c.564A>T n.7195A>T | |
19 | g.38499720G>A | CA507353863 | RYR1 | c.7113G>A (p.Glu2371=) c.7110G>A (p.Glu2370=) c.565G>A n.7196G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499720G>C | CA405668165 | RYR1 | c.7113G>C (p.Glu2371Asp) c.7110G>C (p.Glu2370Asp) c.565G>C n.7196G>C | |
19 | g.38499720G= | CA2335052899 | RYR1 | c.7113G= (p.Glu2371=) c.7110G= (p.Glu2370=) c.565G= n.7196G= | |
19 | g.38499720G>T | CA405668168 | RYR1 | c.7113G>T (p.Glu2371Asp) c.7110G>T (p.Glu2370Asp) c.565G>T n.7196G>T | gnomAD v4 |
19 | g.38499721G>A | CA405668170 | RYR1 | c.7114G>A (p.Gly2372Ser) c.7111G>A (p.Gly2371Ser) c.566G>A n.7197G>A | dbSNP |
19 | g.38499721G>C | CA405668172 | RYR1 | c.7114G>C (p.Gly2372Arg) c.7111G>C (p.Gly2371Arg) c.566G>C n.7197G>C | ClinVar dbSNP |
19 | g.38499721G= | CA2335052900 | RYR1 | c.7114G= (p.Gly2372=) c.7111G= (p.Gly2371=) c.566G= n.7197G= | |
19 | g.38499721G>T | CA405668174 | RYR1 | c.7114G>T (p.Gly2372Cys) c.7111G>T (p.Gly2371Cys) c.566G>T n.7197G>T | gnomAD v4 |
19 | g.38499722G>A | CA405668178 | RYR1 | c.7115G>A (p.Gly2372Asp) c.7112G>A (p.Gly2371Asp) c.567G>A n.7198G>A | |
19 | g.38499722G>C | CA069161 | RYR1 | c.7115G>C (p.Gly2372Ala) c.7112G>C (p.Gly2371Ala) c.567G>C n.7198G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499722G= | CA2335052901 | RYR1 | c.7115G= (p.Gly2372=) c.7112G= (p.Gly2371=) c.567G= n.7198G= | |
19 | g.38499722G>T | CA405668181 | RYR1 | c.7115G>T (p.Gly2372Val) c.7112G>T (p.Gly2371Val) c.567G>T n.7198G>T | gnomAD v4 |
19 | g.38499723T>A | CA507353864 | RYR1 | c.7116T>A (p.Gly2372=) c.7113T>A (p.Gly2371=) c.568T>A n.7199T>A | |
19 | g.38499723T>C | CA507353865 | RYR1 | c.7116T>C (p.Gly2372=) c.7113T>C (p.Gly2371=) c.568T>C n.7199T>C | |
19 | g.38499723T>G | CA507353866 | RYR1 | c.7116T>G (p.Gly2372=) c.7113T>G (p.Gly2371=) c.568T>G n.7199T>G | |
19 | g.38499724G>A | CA405668188 | RYR1 | c.7117G>A (p.Gly2373Ser) c.7114G>A (p.Gly2372Ser) c.569G>A n.7200G>A | ClinVar dbSNP gnomAD v2 |
19 | g.38499724G>C | CA405668189 | RYR1 | c.7117G>C (p.Gly2373Arg) c.7114G>C (p.Gly2372Arg) c.569G>C n.7200G>C | gnomAD v3 gnomAD v4 |
19 | g.38499724G= | CA2335052902 | RYR1 | c.7117G= (p.Gly2373=) c.7114G= (p.Gly2372=) c.569G= n.7200G= | |
19 | g.38499724G>T | CA405668192 | RYR1 | c.7117G>T (p.Gly2373Cys) c.7114G>T (p.Gly2372Cys) c.569G>T n.7200G>T | gnomAD v4 |
19 | g.38499725G>A | CA405668211 | RYR1 | c.7118G>A (p.Gly2373Asp) c.7115G>A (p.Gly2372Asp) c.570G>A n.7201G>A | gnomAD v4 |
19 | g.38499725G>C | CA082335 | RYR1 | c.7118G>C (p.Gly2373Ala) c.7115G>C (p.Gly2372Ala) c.570G>C n.7201G>C | |
19 | g.38499725G>T | CA405668197 | RYR1 | c.7118G>T (p.Gly2373Val) c.7115G>T (p.Gly2372Val) c.570G>T n.7201G>T | gnomAD v4 |
19 | g.38499726C>A | CA507353867 | RYR1 | c.7119C>A (p.Gly2373=) c.7116C>A (p.Gly2372=) c.571C>A n.7202C>A | |
19 | g.38499726C>G | CA507353868 | RYR1 | c.7119C>G (p.Gly2373=) c.7116C>G (p.Gly2372=) c.571C>G n.7202C>G | |
19 | g.38499726C>T | CA507353869 | RYR1 | c.7119C>T (p.Gly2373=) c.7116C>T (p.Gly2372=) c.571C>T n.7202C>T | gnomAD v4 |
19 | g.38499726_38499727insCG | CA2584900038 | RYR1 | c.7119_7120insCG (p.Ser2374ArgfsTer?) c.7116_7117insCG (p.Ser2373ArgfsTer?) c.571_572insCG n.7202_7203insCG | gnomAD v4 |
19 | g.38499727T>A | CA405668216 | RYR1 | c.7120T>A (p.Ser2374Thr) c.7117T>A (p.Ser2373Thr) c.572T>A n.7203T>A | |
19 | g.38499727T>C | CA405668220 | RYR1 | c.7120T>C (p.Ser2374Pro) c.7117T>C (p.Ser2373Pro) c.572T>C n.7203T>C | |
19 | g.38499727T>G | CA405668228 | RYR1 | c.7120T>G (p.Ser2374Ala) c.7117T>G (p.Ser2373Ala) c.572T>G n.7203T>G | |
19 | g.38499727_38499728insATCATTAAAAAA | CA2584900039 | RYR1 | c.7120_7121insATCATTAAAAAA (p.Ser2374TyrfsTer3) c.7117_7118insATCATTAAAAAA (p.Ser2373TyrfsTer3) c.572_573insATCATTAAAAAA n.7203_7204insATCATTAAAAAA | gnomAD v4 |
19 | g.38499728C>A | CA405668234 | RYR1 | c.7121C>A (p.Ser2374Ter) c.7118C>A (p.Ser2373Ter) c.573C>A n.7204C>A | |
19 | g.38499728C= | CA2335052903 | RYR1 | c.7121C= (p.Ser2374=) c.7118C= (p.Ser2373=) c.573C= n.7204C= | |
19 | g.38499728C>G | CA405668236 | RYR1 | c.7121C>G (p.Ser2374Ter) c.7118C>G (p.Ser2373Ter) c.573C>G n.7204C>G | gnomAD v4 COSMIC |
19 | g.38499728C>T | CA405668238 | RYR1 | c.7121C>T (p.Ser2374Leu) c.7118C>T (p.Ser2373Leu) c.573C>T n.7204C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499729A= | CA2335052905 | RYR1 | c.7122A= (p.Ser2374=) c.7119A= (p.Ser2373=) c.574A= n.7205A= | |
19 | g.38499729A>C | CA507353870 | RYR1 | c.7122A>C (p.Ser2374=) c.7119A>C (p.Ser2373=) c.574A>C n.7205A>C | |
19 | g.38499729A>G | CA507353871 | RYR1 | c.7122A>G (p.Ser2374=) c.7119A>G (p.Ser2373=) c.574A>G n.7205A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499729A>T | CA507353872 | RYR1 | c.7122A>T (p.Ser2374=) c.7119A>T (p.Ser2373=) c.574A>T n.7205A>T | |
19 | g.38499729_38499730delinsAG | CA2335052904 | RYR1 | c.7122_7123delinsAG (p.Ser2374=) c.7119_7120delinsAG (p.Ser2373=) c.574_575delinsAG n.7205_7206delinsAG | |
19 | g.38499730G>A | CA405668242 | RYR1 | c.7123G>A (p.Gly2375Arg) c.7120G>A (p.Gly2374Arg) c.575G>A n.7206G>A | ClinVar dbSNP |
19 | g.38499730G>C | CA405668243 | RYR1 | c.7123G>C (p.Gly2375Arg) c.7120G>C (p.Gly2374Arg) c.575G>C n.7206G>C | ClinVar dbSNP |
19 | g.38499730G= | CA2335052906 | RYR1 | c.7123G= (p.Gly2375=) c.7120G= (p.Gly2374=) c.575G= n.7206G= | |
19 | g.38499730G>T | CA405668246 | RYR1 | c.7123G>T (p.Gly2375Trp) c.7120G>T (p.Gly2374Trp) c.575G>T n.7206G>T | gnomAD v4 |
19 | g.38499732del | CA633066147 | RYR1 | c.7125del (p.Leu2376CysfsTer?) c.7122del (p.Leu2375CysfsTer?) c.577del n.7208del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499731G>A | CA405668249 | RYR1 | c.7124G>A (p.Gly2375Glu) c.7121G>A (p.Gly2374Glu) c.576G>A n.7207G>A | ClinVar dbSNP |
19 | g.38499731G>C | CA024718 | RYR1 | c.7124G>C (p.Gly2375Ala) c.7121G>C (p.Gly2374Ala) c.576G>C n.7207G>C | ClinVar dbSNP |
19 | g.38499731G= | CA2335052907 | RYR1 | c.7124G= (p.Gly2375=) c.7121G= (p.Gly2374=) c.576G= n.7207G= | |
19 | g.38499731G>T | CA405668250 | RYR1 | c.7124G>T (p.Gly2375Val) c.7121G>T (p.Gly2374Val) c.576G>T n.7207G>T | gnomAD v4 |
19 | g.38499732G>A | CA507353873 | RYR1 | c.7125G>A (p.Gly2375=) c.7122G>A (p.Gly2374=) c.577G>A n.7208G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38499732G>C | CA507353875 | RYR1 | c.7125G>C (p.Gly2375=) c.7122G>C (p.Gly2374=) c.577G>C n.7208G>C | |
19 | g.38499732G= | CA2335052908 | RYR1 | c.7125G= (p.Gly2375=) c.7122G= (p.Gly2374=) c.577G= n.7208G= | |
19 | g.38499732G>T | CA507353874 | RYR1 | c.7125G>T (p.Gly2375=) c.7122G>T (p.Gly2374=) c.577G>T n.7208G>T | gnomAD v4 |
19 | g.38499733C>A | CA405668254 | RYR1 | c.7126C>A (p.Leu2376Met) c.7123C>A (p.Leu2375Met) c.578C>A n.7209C>A | gnomAD v4 |
19 | g.38499733C>G | CA405668252 | RYR1 | c.7126C>G (p.Leu2376Val) c.7123C>G (p.Leu2375Val) c.578C>G n.7209C>G | |
19 | g.38499733C>T | CA507353876 | RYR1 | c.7126C>T (p.Leu2376=) c.7123C>T (p.Leu2375=) c.578C>T n.7209C>T | gnomAD v4 |
19 | g.38499733dup | CA2843262410 | RYR1 | c.7126dup (p.Leu2376ProfsTer?) c.7123dup (p.Leu2375ProfsTer?) c.578dup n.7209dup | |
19 | g.38499734T>A | CA405668256 | RYR1 | c.7127T>A (p.Leu2376Gln) c.7124T>A (p.Leu2375Gln) c.579T>A n.7210T>A | |
19 | g.38499734T>C | CA405668258 | RYR1 | c.7127T>C (p.Leu2376Pro) c.7124T>C (p.Leu2375Pro) c.579T>C n.7210T>C | |
19 | g.38499734T>G | CA405668259 | RYR1 | c.7127T>G (p.Leu2376Arg) c.7124T>G (p.Leu2375Arg) c.579T>G n.7210T>G | gnomAD v4 |
19 | g.38499735G>A | CA507353877 | RYR1 | c.7128G>A (p.Leu2376=) c.7125G>A (p.Leu2375=) c.580G>A n.7211G>A | gnomAD v4 |
19 | g.38499735G>C | CA507353878 | RYR1 | c.7128G>C (p.Leu2376=) c.7125G>C (p.Leu2375=) c.580G>C n.7211G>C | |
19 | g.38499735G>T | CA507353879 | RYR1 | c.7128G>T (p.Leu2376=) c.7125G>T (p.Leu2375=) c.580G>T n.7211G>T | gnomAD v4 |
19 | g.38499736C>A | CA405668261 | RYR1 | c.7129C>A (p.Leu2377Met) c.7126C>A (p.Leu2376Met) c.581C>A n.7212C>A | gnomAD v4 |
19 | g.38499736C>G | CA405668262 | RYR1 | c.7129C>G (p.Leu2377Val) c.7126C>G (p.Leu2376Val) c.581C>G n.7212C>G | |
19 | g.38499736C>T | CA507353880 | RYR1 | c.7129C>T (p.Leu2377=) c.7126C>T (p.Leu2376=) c.581C>T n.7212C>T | gnomAD v4 |
19 | g.38499737T>A | CA405668265 | RYR1 | c.7130T>A (p.Leu2377Gln) c.7127T>A (p.Leu2376Gln) c.582T>A n.7213T>A | |
19 | g.38499737T>C | CA405668266 | RYR1 | c.7130T>C (p.Leu2377Pro) c.7127T>C (p.Leu2376Pro) c.582T>C n.7213T>C | ClinVar dbSNP |
19 | g.38499737T>G | CA405668268 | RYR1 | c.7130T>G (p.Leu2377Arg) c.7127T>G (p.Leu2376Arg) c.582T>G n.7213T>G | dbSNP |
19 | g.38499737T= | CA2335052909 | RYR1 | c.7130T= (p.Leu2377=) c.7127T= (p.Leu2376=) c.582T= n.7213T= | |
19 | g.38499738G>A | CA507353881 | RYR1 | c.7131G>A (p.Leu2377=) c.7128G>A (p.Leu2376=) c.583G>A n.7214G>A | ClinVar gnomAD v4 |
19 | g.38499738G>C | CA507353883 | RYR1 | c.7131G>C (p.Leu2377=) c.7128G>C (p.Leu2376=) c.583G>C n.7214G>C | |
19 | g.38499738G>T | CA507353882 | RYR1 | c.7131G>T (p.Leu2377=) c.7128G>T (p.Leu2376=) c.583G>T n.7214G>T | gnomAD v4 |
19 | g.38499739G>A | CA069169 | RYR1 | c.7132G>A (p.Ala2378Thr) c.7129G>A (p.Ala2377Thr) c.584G>A n.7215G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499739G>C | CA405668270 | RYR1 | c.7132G>C (p.Ala2378Pro) c.7129G>C (p.Ala2377Pro) c.584G>C n.7215G>C | gnomAD v4 |
19 | g.38499739G= | CA2335052910 | RYR1 | c.7132G= (p.Ala2378=) c.7129G= (p.Ala2377=) c.584G= n.7215G= | |
19 | g.38499739G>T | CA405668273 | RYR1 | c.7132G>T (p.Ala2378Ser) c.7129G>T (p.Ala2377Ser) c.584G>T n.7215G>T | gnomAD v4 |
19 | g.38499740C>A | CA405668281 | RYR1 | c.7133C>A (p.Ala2378Asp) c.7130C>A (p.Ala2377Asp) c.585C>A n.7216C>A | |
19 | g.38499740C>G | CA405668284 | RYR1 | c.7133C>G (p.Ala2378Gly) c.7130C>G (p.Ala2377Gly) c.585C>G n.7216C>G | |
19 | g.38499740C>T | CA405668286 | RYR1 | c.7133C>T (p.Ala2378Val) c.7130C>T (p.Ala2377Val) c.585C>T n.7216C>T | gnomAD v4 |
19 | g.38499741T>A | CA507353884 | RYR1 | c.7134T>A (p.Ala2378=) c.7131T>A (p.Ala2377=) c.586T>A n.7217T>A | |
19 | g.38499741T>C | CA507353885 | RYR1 | c.7134T>C (p.Ala2378=) c.7131T>C (p.Ala2377=) c.586T>C n.7217T>C | |
19 | g.38499741T>G | CA507353886 | RYR1 | c.7134T>G (p.Ala2378=) c.7131T>G (p.Ala2377=) c.586T>G n.7217T>G | |
19 | g.38499742G>A | CA082336 | RYR1 | c.7135G>A (p.Ala2379Thr) c.7132G>A (p.Ala2378Thr) c.587G>A n.7218G>A | gnomAD v4 |
19 | g.38499742G>C | CA405668287 | RYR1 | c.7135G>C (p.Ala2379Pro) c.7132G>C (p.Ala2378Pro) c.587G>C n.7218G>C | |
19 | g.38499742G= | CA2335052911 | RYR1 | c.7135G= (p.Ala2379=) c.7132G= (p.Ala2378=) c.587G= n.7218G= | |
19 | g.38499742G>T | CA308109556 | RYR1 | c.7135G>T (p.Ala2379Ser) c.7132G>T (p.Ala2378Ser) c.587G>T n.7218G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499743C>A | CA10651854 | RYR1 | c.7136C>A (p.Ala2379Asp) c.7133C>A (p.Ala2378Asp) c.588C>A n.7219C>A | ClinVar dbSNP gnomAD v4 |
19 | g.38499743C= | CA2335052912 | RYR1 | c.7136C= (p.Ala2379=) c.7133C= (p.Ala2378=) c.588C= n.7219C= | |
19 | g.38499743C>G | CA405668288 | RYR1 | c.7136C>G (p.Ala2379Gly) c.7133C>G (p.Ala2378Gly) c.588C>G n.7219C>G | gnomAD v4 |
19 | g.38499743C>T | CA405668289 | RYR1 | c.7136C>T (p.Ala2379Val) c.7133C>T (p.Ala2378Val) c.588C>T n.7219C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499744C>A | CA507353887 | RYR1 | c.7137C>A (p.Ala2379=) c.7134C>A (p.Ala2378=) c.589C>A n.7220C>A | |
19 | g.38499744C>G | CA507353888 | RYR1 | c.7137C>G (p.Ala2379=) c.7134C>G (p.Ala2378=) c.589C>G n.7220C>G | |
19 | g.38499744C>T | CA507353889 | RYR1 | c.7137C>T (p.Ala2379=) c.7134C>T (p.Ala2378=) c.589C>T n.7220C>T | ClinVar COSMIC |
19 | g.38499745A>C | CA405668292 | RYR1 | c.7138A>C (p.Ile2380Leu) c.7135A>C (p.Ile2379Leu) c.590A>C n.7221A>C | |
19 | g.38499745A>G | CA405668296 | RYR1 | c.7138A>G (p.Ile2380Val) c.7135A>G (p.Ile2379Val) c.590A>G n.7221A>G | |
19 | g.38499745A>T | CA405668300 | RYR1 | c.7138A>T (p.Ile2380Phe) c.7135A>T (p.Ile2379Phe) c.590A>T n.7221A>T | |
19 | g.38499746T>A | CA405668308 | RYR1 | c.7139T>A (p.Ile2380Asn) c.7136T>A (p.Ile2379Asn) c.591T>A n.7222T>A | |
19 | g.38499746T>C | CA405668303 | RYR1 | c.7139T>C (p.Ile2380Thr) c.7136T>C (p.Ile2379Thr) c.591T>C n.7222T>C | |
19 | g.38499746T>G | CA405668305 | RYR1 | c.7139T>G (p.Ile2380Ser) c.7136T>G (p.Ile2379Ser) c.591T>G n.7222T>G | |
19 | g.38499747C>A | CA507353890 | RYR1 | c.7140C>A (p.Ile2380=) c.7137C>A (p.Ile2379=) c.592C>A n.7223C>A | gnomAD v4 |
19 | g.38499747C= | CA2335052913 | RYR1 | c.7140C= (p.Ile2380=) c.7137C= (p.Ile2379=) c.592C= n.7223C= | |
19 | g.38499747C>G | CA069173 | RYR1 | c.7140C>G (p.Ile2380Met) c.7137C>G (p.Ile2379Met) c.592C>G n.7223C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499747C>T | CA069177 | RYR1 | c.7140C>T (p.Ile2380=) c.7137C>T (p.Ile2379=) c.592C>T n.7223C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499748G>A | CA069181 | RYR1 | c.7141G>A (p.Glu2381Lys) c.7138G>A (p.Glu2380Lys) c.593G>A n.7224G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38499748G>C | CA405668319 | RYR1 | c.7141G>C (p.Glu2381Gln) c.7138G>C (p.Glu2380Gln) c.593G>C n.7224G>C | |
19 | g.38499748G= | CA2335052914 | RYR1 | c.7141G= (p.Glu2381=) c.7138G= (p.Glu2380=) c.593G= n.7224G= | |
19 | g.38499748G>T | CA405668323 | RYR1 | c.7141G>T (p.Glu2381Ter) c.7138G>T (p.Glu2380Ter) c.593G>T n.7224G>T | gnomAD v4 |
19 | g.38499749A>C | CA405668336 | RYR1 | c.7142A>C (p.Glu2381Ala) c.7139A>C (p.Glu2380Ala) c.594A>C n.7225A>C | |
19 | g.38499749A>G | CA405668325 | RYR1 | c.7142A>G (p.Glu2381Gly) c.7139A>G (p.Glu2380Gly) c.594A>G n.7225A>G | |
19 | g.38499749A>T | CA405668330 | RYR1 | c.7142A>T (p.Glu2381Val) c.7139A>T (p.Glu2380Val) c.594A>T n.7225A>T | |
19 | g.38499750A>C | CA405668339 | RYR1 | c.7143A>C (p.Glu2381Asp) c.7140A>C (p.Glu2380Asp) c.595A>C n.7226A>C | |
19 | g.38499750A>G | CA507353891 | RYR1 | c.7143A>G (p.Glu2381=) c.7140A>G (p.Glu2380=) c.595A>G n.7226A>G | |
19 | g.38499750A>T | CA405668340 | RYR1 | c.7143A>T (p.Glu2381Asp) c.7140A>T (p.Glu2380Asp) c.595A>T n.7226A>T | |
19 | g.38499751del | CA2739276775 | RYR1 | c.7144del (p.Glu2382ArgfsTer?) c.7141del (p.Glu2381ArgfsTer?) c.596del n.7227del | ClinVar |
19 | g.38499751G>A | CA082339 | RYR1 | c.7144G>A (p.Glu2382Lys) c.7141G>A (p.Glu2381Lys) c.596G>A n.7227G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38499751G>C | CA405668350 | RYR1 | c.7144G>C (p.Glu2382Gln) c.7141G>C (p.Glu2381Gln) c.596G>C n.7227G>C | |
19 | g.38499751G= | CA2335052915 | RYR1 | c.7144G= (p.Glu2382=) c.7141G= (p.Glu2381=) c.596G= n.7227G= | |
19 | g.38499751G>T | CA405668361 | RYR1 | c.7144G>T (p.Glu2382Ter) c.7141G>T (p.Glu2381Ter) c.596G>T n.7227G>T | gnomAD v4 |
19 | g.38499752A>C | CA405668364 | RYR1 | c.7145A>C (p.Glu2382Ala) c.7142A>C (p.Glu2381Ala) c.597A>C n.7228A>C | |
19 | g.38499752A>G | CA405668367 | RYR1 | c.7145A>G (p.Glu2382Gly) c.7142A>G (p.Glu2381Gly) c.597A>G n.7228A>G | |
19 | g.38499752A>T | CA405668371 | RYR1 | c.7145A>T (p.Glu2382Val) c.7142A>T (p.Glu2381Val) c.597A>T n.7228A>T | |
19 | g.38499753G>A | CA507353892 | RYR1 | c.7146G>A (p.Glu2382=) c.7143G>A (p.Glu2381=) c.598G>A n.7229G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499753G>C | CA405668377 | RYR1 | c.7146G>C (p.Glu2382Asp) c.7143G>C (p.Glu2381Asp) c.598G>C n.7229G>C | |
19 | g.38499753G= | CA2335052916 | RYR1 | c.7146G= (p.Glu2382=) c.7143G= (p.Glu2381=) c.598G= n.7229G= | |
19 | g.38499753G>T | CA405668379 | RYR1 | c.7146G>T (p.Glu2382Asp) c.7143G>T (p.Glu2381Asp) c.598G>T n.7229G>T | |
19 | g.38499754G>A | CA405668380 | RYR1 | c.7147G>A (p.Ala2383Thr) c.7144G>A (p.Ala2382Thr) c.599G>A n.7230G>A | |
19 | g.38499754G>C | CA405668383 | RYR1 | c.7147G>C (p.Ala2383Pro) c.7144G>C (p.Ala2382Pro) c.599G>C n.7230G>C | |
19 | g.38499754G= | CA2335052917 | RYR1 | c.7147G= (p.Ala2383=) c.7144G= (p.Ala2382=) c.599G= n.7230G= | |
19 | g.38499754G>T | CA405668384 | RYR1 | c.7147G>T (p.Ala2383Ser) c.7144G>T (p.Ala2382Ser) c.599G>T n.7230G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499755C>A | CA405668386 | RYR1 | c.7148C>A (p.Ala2383Asp) c.7145C>A (p.Ala2382Asp) c.600C>A n.7231C>A | gnomAD v4 |
19 | g.38499755C>G | CA405668392 | RYR1 | c.7148C>G (p.Ala2383Gly) c.7145C>G (p.Ala2382Gly) c.600C>G n.7231C>G | |
19 | g.38499755C>T | CA405668387 | RYR1 | c.7148C>T (p.Ala2383Val) c.7145C>T (p.Ala2382Val) c.600C>T n.7231C>T | gnomAD v4 |
19 | g.38499756C>A | CA507353893 | RYR1 | c.7149C>A (p.Ala2383=) c.7146C>A (p.Ala2382=) c.601C>A n.7232C>A | ClinVar gnomAD v4 |
19 | g.38499756C= | CA2335052918 | RYR1 | c.7149C= (p.Ala2383=) c.7146C= (p.Ala2382=) c.601C= n.7232C= | |
19 | g.38499756C>G | CA507353894 | RYR1 | c.7149C>G (p.Ala2383=) c.7146C>G (p.Ala2382=) c.601C>G n.7232C>G | |
19 | g.38499756C>T | CA507353895 | RYR1 | c.7149C>T (p.Ala2383=) c.7146C>T (p.Ala2382=) c.601C>T n.7232C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38499757A>C | CA405668402 | RYR1 | c.7150A>C (p.Ile2384Leu) c.7147A>C (p.Ile2383Leu) c.602A>C n.7233A>C | |
19 | g.38499757A>G | CA405668404 | RYR1 | c.7150A>G (p.Ile2384Val) c.7147A>G (p.Ile2383Val) c.602A>G n.7233A>G | |
19 | g.38499757A>T | CA405668405 | RYR1 | c.7150A>T (p.Ile2384Phe) c.7147A>T (p.Ile2383Phe) c.602A>T n.7233A>T | |
19 | g.38499758T>A | CA405668408 | RYR1 | c.7151T>A (p.Ile2384Asn) c.7148T>A (p.Ile2383Asn) c.603T>A n.7234T>A | COSMIC |
19 | g.38499758T>C | CA405668410 | RYR1 | c.7151T>C (p.Ile2384Thr) c.7148T>C (p.Ile2383Thr) c.603T>C n.7234T>C | |
19 | g.38499758T>G | CA405668414 | RYR1 | c.7151T>G (p.Ile2384Ser) c.7148T>G (p.Ile2383Ser) c.603T>G n.7234T>G | |
19 | g.38499759C>A | CA507353896 | RYR1 | c.7152C>A (p.Ile2384=) c.7149C>A (p.Ile2383=) c.604C>A n.7235C>A | gnomAD v4 |
19 | g.38499759C= | CA2335052919 | RYR1 | c.7152C= (p.Ile2384=) c.7149C= (p.Ile2383=) c.604C= n.7235C= | |
19 | g.38499759C>G | CA405668428 | RYR1 | c.7152C>G (p.Ile2384Met) c.7149C>G (p.Ile2383Met) c.604C>G n.7235C>G | |
19 | g.38499759C>T | CA069182 | RYR1 | c.7152C>T (p.Ile2384=) c.7149C>T (p.Ile2383=) c.604C>T n.7235C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38499760C>A | CA405668430 | RYR1 | c.7153C>A (p.Arg2385Ser) c.7150C>A (p.Arg2384Ser) c.605C>A n.7236C>A | gnomAD v4 |
19 | g.38499760C= | CA2335052920 | RYR1 | c.7153C= (p.Arg2385=) c.7150C= (p.Arg2384=) c.605C= n.7236C= | |
19 | g.38499760C>G | CA405668432 | RYR1 | c.7153C>G (p.Arg2385Gly) c.7150C>G (p.Arg2384Gly) c.605C>G n.7236C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499760C>T | CA069185 | RYR1 | c.7153C>T (p.Arg2385Cys) c.7150C>T (p.Arg2384Cys) c.605C>T n.7236C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499761G>A | CA069189 | RYR1 | c.7154G>A (p.Arg2385His) c.7151G>A (p.Arg2384His) c.606G>A n.7237G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499761G>C | CA405668439 | RYR1 | c.7154G>C (p.Arg2385Pro) c.7151G>C (p.Arg2384Pro) c.606G>C n.7237G>C | |
19 | g.38499761G= | CA2335052921 | RYR1 | c.7154G= (p.Arg2385=) c.7151G= (p.Arg2384=) c.606G= n.7237G= | |
19 | g.38499761G>T | CA405668442 | RYR1 | c.7154G>T (p.Arg2385Leu) c.7151G>T (p.Arg2384Leu) c.606G>T n.7237G>T | gnomAD v4 |
19 | g.38499762C>A | CA507353897 | RYR1 | c.7155C>A (p.Arg2385=) c.7152C>A (p.Arg2384=) c.607C>A n.7238C>A | |
19 | g.38499762C>G | CA507353898 | RYR1 | c.7155C>G (p.Arg2385=) c.7152C>G (p.Arg2384=) c.607C>G n.7238C>G | |
19 | g.38499762C>T | CA082340 | RYR1 | c.7155C>T (p.Arg2385=) c.7152C>T (p.Arg2384=) c.607C>T n.7238C>T | |
19 | g.38499762dup | CA2335052922 | RYR1 | c.7155dup (p.Ile2386HisfsTer23) c.7152dup (p.Ile2385HisfsTer23) c.607dup n.7238dup | dbSNP |
19 | g.38499763A>C | CA405668444 | RYR1 | c.7156A>C (p.Ile2386Leu) c.7153A>C (p.Ile2385Leu) c.608A>C n.7239A>C | |
19 | g.38499763A>G | CA405668450 | RYR1 | c.7156A>G (p.Ile2386Val) c.7153A>G (p.Ile2385Val) c.608A>G n.7239A>G | |
19 | g.38499763A>T | CA405668446 | RYR1 | c.7156A>T (p.Ile2386Phe) c.7153A>T (p.Ile2385Phe) c.608A>T n.7239A>T | |
19 | g.38499764T>A | CA082342 | RYR1 | c.7157T>A (p.Ile2386Asn) c.7154T>A (p.Ile2385Asn) c.609T>A n.7240T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499764T>C | CA405668460 | RYR1 | c.7157T>C (p.Ile2386Thr) c.7154T>C (p.Ile2385Thr) c.609T>C n.7240T>C | |
19 | g.38499764T>G | CA405668463 | RYR1 | c.7157T>G (p.Ile2386Ser) c.7154T>G (p.Ile2385Ser) c.609T>G n.7240T>G | |
19 | g.38499764T= | CA2335052923 | RYR1 | c.7157T= (p.Ile2386=) c.7154T= (p.Ile2385=) c.609T= n.7240T= | |
19 | g.38499765C>A | CA069193 | RYR1 | c.7158C>A (p.Ile2386=) c.7155C>A (p.Ile2385=) c.610C>A n.7241C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499765C= | CA2335052924 | RYR1 | c.7158C= (p.Ile2386=) c.7155C= (p.Ile2385=) c.610C= n.7241C= | |
19 | g.38499765C>G | CA405668479 | RYR1 | c.7158C>G (p.Ile2386Met) c.7155C>G (p.Ile2385Met) c.610C>G n.7241C>G | |
19 | g.38499765C>T | CA507353899 | RYR1 | c.7158C>T (p.Ile2386=) c.7155C>T (p.Ile2385=) c.610C>T n.7241C>T | |
19 | g.38499766T>A | CA405668485 | RYR1 | c.7159T>A (p.Ser2387Thr) c.7156T>A (p.Ser2386Thr) c.611T>A n.7242T>A | gnomAD v4 |
19 | g.38499766T>C | CA405668487 | RYR1 | c.7159T>C (p.Ser2387Pro) c.7156T>C (p.Ser2386Pro) c.611T>C n.7242T>C | |
19 | g.38499766T>G | CA405668491 | RYR1 | c.7159T>G (p.Ser2387Ala) c.7156T>G (p.Ser2386Ala) c.611T>G n.7242T>G | |
19 | g.38499767C>A | CA405668495 | RYR1 | c.7160C>A (p.Ser2387Tyr) c.7157C>A (p.Ser2386Tyr) c.612C>A n.7243C>A | |
19 | g.38499767C>G | CA405668502 | RYR1 | c.7160C>G (p.Ser2387Cys) c.7157C>G (p.Ser2386Cys) c.612C>G n.7243C>G | |
19 | g.38499767C>T | CA405668505 | RYR1 | c.7160C>T (p.Ser2387Phe) c.7157C>T (p.Ser2386Phe) c.612C>T n.7243C>T | COSMIC |
19 | g.38499768C>A | CA082344 | RYR1 | c.7161C>A (p.Ser2387=) c.7158C>A (p.Ser2386=) c.613C>A n.7244C>A | |
19 | g.38499768C= | CA2335052925 | RYR1 | c.7161C= (p.Ser2387=) c.7158C= (p.Ser2386=) c.613C= n.7244C= | |
19 | g.38499768C>G | CA507353900 | RYR1 | c.7161C>G (p.Ser2387=) c.7158C>G (p.Ser2386=) c.613C>G n.7244C>G | |
19 | g.38499768C>T | CA069197 | RYR1 | c.7161C>T (p.Ser2387=) c.7158C>T (p.Ser2386=) c.613C>T n.7244C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38499773_38499783del | CA2584900040 | RYR1 | c.7166_7176del (p.Asp2389GlyfsTer16) c.7163_7173del (p.Asp2388GlyfsTer16) c.618_628del n.7249_7259del | gnomAD v4 |
19 | g.38499769G>A | CA069201 | RYR1 | c.7162G>A (p.Glu2388Lys) c.7159G>A (p.Glu2387Lys) c.614G>A n.7245G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499769G>C | CA405668521 | RYR1 | c.7162G>C (p.Glu2388Gln) c.7159G>C (p.Glu2387Gln) c.614G>C n.7245G>C | |
19 | g.38499769G= | CA2335052926 | RYR1 | c.7162G= (p.Glu2388=) c.7159G= (p.Glu2387=) c.614G= n.7245G= | |
19 | g.38499769G>T | CA405668524 | RYR1 | c.7162G>T (p.Glu2388Ter) c.7159G>T (p.Glu2387Ter) c.614G>T n.7245G>T | gnomAD v4 |
19 | g.38499770A>C | CA405668527 | RYR1 | c.7163A>C (p.Glu2388Ala) c.7160A>C (p.Glu2387Ala) c.615A>C n.7246A>C | |
19 | g.38499770A>G | CA405668533 | RYR1 | c.7163A>G (p.Glu2388Gly) c.7160A>G (p.Glu2387Gly) c.615A>G n.7246A>G | |
19 | g.38499770A>T | CA405668529 | RYR1 | c.7163A>T (p.Glu2388Val) c.7160A>T (p.Glu2387Val) c.615A>T n.7246A>T | |
19 | g.38499771G>A | CA507353901 | RYR1 | c.7164G>A (p.Glu2388=) c.7161G>A (p.Glu2387=) c.616G>A n.7247G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499771G>C | CA405668538 | RYR1 | c.7164G>C (p.Glu2388Asp) c.7161G>C (p.Glu2387Asp) c.616G>C n.7247G>C | |
19 | g.38499771G= | CA2335052927 | RYR1 | c.7164G= (p.Glu2388=) c.7161G= (p.Glu2387=) c.616G= n.7247G= | |
19 | g.38499771G>T | CA405668539 | RYR1 | c.7164G>T (p.Glu2388Asp) c.7161G>T (p.Glu2387Asp) c.616G>T n.7247G>T | |
19 | g.38499772G>A | CA082346 | RYR1 | c.7165G>A (p.Asp2389Asn) c.7162G>A (p.Asp2388Asn) c.617G>A n.7248G>A | gnomAD v4 |
19 | g.38499772G>C | CA405668542 | RYR1 | c.7165G>C (p.Asp2389His) c.7162G>C (p.Asp2388His) c.617G>C n.7248G>C | |
19 | g.38499772G>T | CA405668545 | RYR1 | c.7165G>T (p.Asp2389Tyr) c.7162G>T (p.Asp2388Tyr) c.617G>T n.7248G>T | gnomAD v4 |
19 | g.38499773A>C | CA405668546 | RYR1 | c.7166A>C (p.Asp2389Ala) c.7163A>C (p.Asp2388Ala) c.618A>C n.7249A>C | |
19 | g.38499773A>G | CA405668547 | RYR1 | c.7166A>G (p.Asp2389Gly) c.7163A>G (p.Asp2388Gly) c.618A>G n.7249A>G | ClinVar |
19 | g.38499773A>T | CA405668554 | RYR1 | c.7166A>T (p.Asp2389Val) c.7163A>T (p.Asp2388Val) c.618A>T n.7249A>T | |
19 | g.38499774C>A | CA405668559 | RYR1 | c.7167C>A (p.Asp2389Glu) c.7164C>A (p.Asp2388Glu) c.619C>A n.7250C>A | gnomAD v4 |
19 | g.38499774C>G | CA405668563 | RYR1 | c.7167C>G (p.Asp2389Glu) c.7164C>G (p.Asp2388Glu) c.619C>G n.7250C>G | |
19 | g.38499774C>T | CA507353902 | RYR1 | c.7167C>T (p.Asp2389=) c.7164C>T (p.Asp2388=) c.619C>T n.7250C>T | |
19 | g.38499775C>A | CA405668573 | RYR1 | c.7168C>A (p.Pro2390Thr) c.7165C>A (p.Pro2389Thr) c.620C>A n.7251C>A | |
19 | g.38499775C= | CA2335052928 | RYR1 | c.7168C= (p.Pro2390=) c.7165C= (p.Pro2389=) c.620C= n.7251C= | |
19 | g.38499775C>G | CA069202 | RYR1 | c.7168C>G (p.Pro2390Ala) c.7165C>G (p.Pro2389Ala) c.620C>G n.7251C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499775C>T | CA405668589 | RYR1 | c.7168C>T (p.Pro2390Ser) c.7165C>T (p.Pro2389Ser) c.620C>T n.7251C>T | gnomAD v4 |
19 | g.38499776C>A | CA405668598 | RYR1 | c.7169C>A (p.Pro2390His) c.7166C>A (p.Pro2389His) c.621C>A n.7252C>A | |
19 | g.38499776C>G | CA405668600 | RYR1 | c.7169C>G (p.Pro2390Arg) c.7166C>G (p.Pro2389Arg) c.621C>G n.7252C>G | |
19 | g.38499776C>T | CA405668599 | RYR1 | c.7169C>T (p.Pro2390Leu) c.7166C>T (p.Pro2389Leu) c.621C>T n.7252C>T | gnomAD v4 |
19 | g.38499777T>A | CA507353903 | RYR1 | c.7170T>A (p.Pro2390=) c.7167T>A (p.Pro2389=) c.622T>A n.7253T>A | |
19 | g.38499777T>C | CA507353904 | RYR1 | c.7170T>C (p.Pro2390=) c.7167T>C (p.Pro2389=) c.622T>C n.7253T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499777T>G | CA507353905 | RYR1 | c.7170T>G (p.Pro2390=) c.7167T>G (p.Pro2389=) c.622T>G n.7253T>G | |
19 | g.38499777T= | CA2335052929 | RYR1 | c.7170T= (p.Pro2390=) c.7167T= (p.Pro2389=) c.622T= n.7253T= | |
19 | g.38499778G>A | CA405668602 | RYR1 | c.7171G>A (p.Ala2391Thr) c.7168G>A (p.Ala2390Thr) c.623G>A n.7254G>A | |
19 | g.38499778G>C | CA405668608 | RYR1 | c.7171G>C (p.Ala2391Pro) c.7168G>C (p.Ala2390Pro) c.623G>C n.7254G>C | |
19 | g.38499778G>T | CA405668610 | RYR1 | c.7171G>T (p.Ala2391Ser) c.7168G>T (p.Ala2390Ser) c.623G>T n.7254G>T | gnomAD v4 |
19 | g.38499779C>A | CA405668614 | RYR1 | c.7172C>A (p.Ala2391Glu) c.7169C>A (p.Ala2390Glu) c.624C>A n.7255C>A | |
19 | g.38499779C= | CA2335052930 | RYR1 | c.7172C= (p.Ala2391=) c.7169C= (p.Ala2390=) c.624C= n.7255C= | |
19 | g.38499779C>G | CA405668617 | RYR1 | c.7172C>G (p.Ala2391Gly) c.7169C>G (p.Ala2390Gly) c.624C>G n.7255C>G | |
19 | g.38499779C>T | CA069207 | RYR1 | c.7172C>T (p.Ala2391Val) c.7169C>T (p.Ala2390Val) c.624C>T n.7255C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499780G>A | CA069210 | RYR1 | c.7173G>A (p.Ala2391=) c.7170G>A (p.Ala2390=) c.625G>A n.7256G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499780G>C | CA507353907 | RYR1 | c.7173G>C (p.Ala2391=) c.7170G>C (p.Ala2390=) c.625G>C n.7256G>C | |
19 | g.38499780G= | CA2335052931 | RYR1 | c.7173G= (p.Ala2391=) c.7170G= (p.Ala2390=) c.625G= n.7256G= | |
19 | g.38499780G>T | CA507353906 | RYR1 | c.7173G>T (p.Ala2391=) c.7170G>T (p.Ala2390=) c.625G>T n.7256G>T | gnomAD v4 |
19 | g.38499781A>C | CA507353908 | RYR1 | c.7174A>C (p.Arg2392=) c.7171A>C (p.Arg2391=) c.626A>C n.7257A>C | |
19 | g.38499781A>G | CA405668631 | RYR1 | c.7174A>G (p.Arg2392Gly) c.7171A>G (p.Arg2391Gly) c.626A>G n.7257A>G | |
19 | g.38499781A>T | CA405668634 | RYR1 | c.7174A>T (p.Arg2392Trp) c.7171A>T (p.Arg2391Trp) c.626A>T n.7257A>T | |
19 | g.38499782G>A | CA405668640 | RYR1 | c.7175G>A (p.Arg2392Lys) c.7172G>A (p.Arg2391Lys) c.627G>A n.7258G>A | dbSNP gnomAD v2 |
19 | g.38499782G>C | CA405668639 | RYR1 | c.7175G>C (p.Arg2392Thr) c.7172G>C (p.Arg2391Thr) c.627G>C n.7258G>C | |
19 | g.38499782G= | CA2335052932 | RYR1 | c.7175G= (p.Arg2392=) c.7172G= (p.Arg2391=) c.627G= n.7258G= | |
19 | g.38499782G>T | CA405668637 | RYR1 | c.7175G>T (p.Arg2392Met) c.7172G>T (p.Arg2391Met) c.627G>T n.7258G>T | gnomAD v4 |
19 | g.38499784del | CA2584900041 | RYR1 | c.7177del (p.Asp2393MetfsTer?) c.7174del (p.Asp2392MetfsTer?) c.629del n.7260del | gnomAD v4 |
19 | g.38499783G>A | CA082349 | RYR1 | c.7176G>A (p.Arg2392=) c.7173G>A (p.Arg2391=) c.628G>A n.7259G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499783G>C | CA405668641 | RYR1 | c.7176G>C (p.Arg2392Ser) c.7173G>C (p.Arg2391Ser) c.628G>C n.7259G>C | |
19 | g.38499783G= | CA2335052933 | RYR1 | c.7176G= (p.Arg2392=) c.7173G= (p.Arg2391=) c.628G= n.7259G= | |
19 | g.38499783G>T | CA405668642 | RYR1 | c.7176G>T (p.Arg2392Ser) c.7173G>T (p.Arg2391Ser) c.628G>T n.7259G>T | gnomAD v4 |
19 | g.38499784G>A | CA405668643 | RYR1 | c.7177G>A (p.Asp2393Asn) c.7174G>A (p.Asp2392Asn) c.629G>A n.7260G>A | |
19 | g.38499784G>C | CA405668645 | RYR1 | c.7177G>C (p.Asp2393His) c.7174G>C (p.Asp2392His) c.629G>C n.7260G>C | |
19 | g.38499784G= | CA2335052934 | RYR1 | c.7177G= (p.Asp2393=) c.7174G= (p.Asp2392=) c.629G= n.7260G= | |
19 | g.38499784G>T | CA405668647 | RYR1 | c.7177G>T (p.Asp2393Tyr) c.7174G>T (p.Asp2392Tyr) c.629G>T n.7260G>T | dbSNP gnomAD v2 gnomAD v4 |