Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38510714T>A | CA405683772 | RYR1 | c.9055T>A (p.Ser3019Thr) c.9052T>A (p.Ser3018Thr) c.2507T>A n.9138T>A | |
19 | g.38510714T>C | CA405683766 | RYR1 | c.9055T>C (p.Ser3019Pro) c.9052T>C (p.Ser3018Pro) c.2507T>C n.9138T>C | |
19 | g.38510714T>G | CA405683763 | RYR1 | c.9055T>G (p.Ser3019Ala) c.9052T>G (p.Ser3018Ala) c.2507T>G n.9138T>G | |
19 | g.38510715C>A | CA405683774 | RYR1 | c.9056C>A (p.Ser3019Tyr) c.9053C>A (p.Ser3018Tyr) c.2508C>A n.9139C>A | |
19 | g.38510715C= | CA2335058883 | RYR1 | c.9056C= (p.Ser3019=) c.9053C= (p.Ser3018=) c.2508C= n.9139C= | |
19 | g.38510715C>G | CA308123300 | RYR1 | c.9056C>G (p.Ser3019Cys) c.9053C>G (p.Ser3018Cys) c.2508C>G n.9139C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38510715C>T | CA405683776 | RYR1 | c.9056C>T (p.Ser3019Phe) c.9053C>T (p.Ser3018Phe) c.2508C>T n.9139C>T | |
19 | g.38510716C>A | CA507246228 | RYR1 | c.9057C>A (p.Ser3019=) c.9054C>A (p.Ser3018=) c.2509C>A n.9140C>A | |
19 | g.38510716C= | CA2335058884 | RYR1 | c.9057C= (p.Ser3019=) c.9054C= (p.Ser3018=) c.2509C= n.9140C= | |
19 | g.38510716C>G | CA507246229 | RYR1 | c.9057C>G (p.Ser3019=) c.9054C>G (p.Ser3018=) c.2509C>G n.9140C>G | |
19 | g.38510716C>T | CA507246231 | RYR1 | c.9057C>T (p.Ser3019=) c.9054C>T (p.Ser3018=) c.2509C>T n.9140C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38510717A>C | CA405683777 | RYR1 | c.9058A>C (p.Thr3020Pro) c.9055A>C (p.Thr3019Pro) c.2510A>C n.9141A>C | |
19 | g.38510717A>G | CA405683778 | RYR1 | c.9058A>G (p.Thr3020Ala) c.9055A>G (p.Thr3019Ala) c.2510A>G n.9141A>G | COSMIC |
19 | g.38510717A>T | CA405683779 | RYR1 | c.9058A>T (p.Thr3020Ser) c.9055A>T (p.Thr3019Ser) c.2510A>T n.9141A>T | ClinVar |
19 | g.38510718C>A | CA405683780 | RYR1 | c.9059C>A (p.Thr3020Asn) c.9056C>A (p.Thr3019Asn) c.2511C>A n.9142C>A | |
19 | g.38510718C>G | CA405683781 | RYR1 | c.9059C>G (p.Thr3020Ser) c.9056C>G (p.Thr3019Ser) c.2511C>G n.9142C>G | |
19 | g.38510718C>T | CA405683782 | RYR1 | c.9059C>T (p.Thr3020Ile) c.9056C>T (p.Thr3019Ile) c.2511C>T n.9142C>T | gnomAD v4 |
19 | g.38510719T>A | CA507246235 | RYR1 | c.9060T>A (p.Thr3020=) c.9057T>A (p.Thr3019=) c.2512T>A n.9143T>A | |
19 | g.38510719T>C | CA507246236 | RYR1 | c.9060T>C (p.Thr3020=) c.9057T>C (p.Thr3019=) c.2512T>C n.9143T>C | |
19 | g.38510719T>G | CA507246234 | RYR1 | c.9060T>G (p.Thr3020=) c.9057T>G (p.Thr3019=) c.2512T>G n.9143T>G | |
19 | g.38510720C>A | CA405683783 | RYR1 | c.9061C>A (p.Pro3021Thr) c.9058C>A (p.Pro3020Thr) c.2513C>A n.9144C>A | |
19 | g.38510720C= | CA2335058885 | RYR1 | c.9061C= (p.Pro3021=) c.9058C= (p.Pro3020=) c.2513C= n.9144C= | |
19 | g.38510720C>G | CA405683784 | RYR1 | c.9061C>G (p.Pro3021Ala) c.9058C>G (p.Pro3020Ala) c.2513C>G n.9144C>G | |
19 | g.38510720C>T | CA405683786 | RYR1 | c.9061C>T (p.Pro3021Ser) c.9058C>T (p.Pro3020Ser) c.2513C>T n.9144C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38510721C>A | CA405683791 | RYR1 | c.9062C>A (p.Pro3021Gln) c.9059C>A (p.Pro3020Gln) c.2514C>A n.9145C>A | gnomAD v4 |
19 | g.38510721C= | CA2335058886 | RYR1 | c.9062C= (p.Pro3021=) c.9059C= (p.Pro3020=) c.2514C= n.9145C= | |
19 | g.38510721C>G | CA405683789 | RYR1 | c.9062C>G (p.Pro3021Arg) c.9059C>G (p.Pro3020Arg) c.2514C>G n.9145C>G | |
19 | g.38510721C>T | CA073098 | RYR1 | c.9062C>T (p.Pro3021Leu) c.9059C>T (p.Pro3020Leu) c.2514C>T n.9145C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510722G>A | CA073102 | RYR1 | c.9063G>A (p.Pro3021=) c.9060G>A (p.Pro3020=) c.2515G>A n.9146G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510722G>C | CA507246238 | RYR1 | c.9063G>C (p.Pro3021=) c.9060G>C (p.Pro3020=) c.2515G>C n.9146G>C | |
19 | g.38510722G= | CA2335058887 | RYR1 | c.9063G= (p.Pro3021=) c.9060G= (p.Pro3020=) c.2515G= n.9146G= | |
19 | g.38510722G>T | CA507246239 | RYR1 | c.9063G>T (p.Pro3021=) c.9060G>T (p.Pro3020=) c.2515G>T n.9146G>T | |
19 | g.38510723G>A | CA405683798 | RYR1 | c.9064G>A (p.Ala3022Thr) c.9061G>A (p.Ala3021Thr) c.2516G>A n.9147G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38510723G>C | CA405683800 | RYR1 | c.9064G>C (p.Ala3022Pro) c.9061G>C (p.Ala3021Pro) c.2516G>C n.9147G>C | |
19 | g.38510723G= | CA2335058888 | RYR1 | c.9064G= (p.Ala3022=) c.9061G= (p.Ala3021=) c.2516G= n.9147G= | |
19 | g.38510723G>T | CA405683802 | RYR1 | c.9064G>T (p.Ala3022Ser) c.9061G>T (p.Ala3021Ser) c.2516G>T n.9147G>T | |
19 | g.38510724C>A | CA405683804 | RYR1 | c.9065C>A (p.Ala3022Asp) c.9062C>A (p.Ala3021Asp) c.2517C>A n.9148C>A | |
19 | g.38510724C>G | CA405683805 | RYR1 | c.9065C>G (p.Ala3022Gly) c.9062C>G (p.Ala3021Gly) c.2517C>G n.9148C>G | |
19 | g.38510724C>T | CA084320 | RYR1 | c.9065C>T (p.Ala3022Val) c.9062C>T (p.Ala3021Val) c.2517C>T n.9148C>T | |
19 | g.38510725T>A | CA507246244 | RYR1 | c.9066T>A (p.Ala3022=) c.9063T>A (p.Ala3021=) c.2518T>A n.9149T>A | |
19 | g.38510725T>C | CA507246245 | RYR1 | c.9066T>C (p.Ala3022=) c.9063T>C (p.Ala3021=) c.2518T>C n.9149T>C | gnomAD v4 |
19 | g.38510725T>G | CA507246246 | RYR1 | c.9066T>G (p.Ala3022=) c.9063T>G (p.Ala3021=) c.2518T>G n.9149T>G | |
19 | g.38510726A>C | CA405683807 | RYR1 | c.9067A>C (p.Lys3023Gln) c.9064A>C (p.Lys3022Gln) c.2519A>C n.9150A>C | |
19 | g.38510726A>G | CA405683809 | RYR1 | c.9067A>G (p.Lys3023Glu) c.9064A>G (p.Lys3022Glu) c.2519A>G n.9150A>G | |
19 | g.38510726A>T | CA405683810 | RYR1 | c.9067A>T (p.Lys3023Ter) c.9064A>T (p.Lys3022Ter) c.2519A>T n.9150A>T | |
19 | g.38510727A>C | CA405683812 | RYR1 | c.9068A>C (p.Lys3023Thr) c.9065A>C (p.Lys3022Thr) c.2520A>C n.9151A>C | |
19 | g.38510727A>G | CA405683813 | RYR1 | c.9068A>G (p.Lys3023Arg) c.9065A>G (p.Lys3022Arg) c.2520A>G n.9151A>G | COSMIC |
19 | g.38510727A>T | CA405683814 | RYR1 | c.9068A>T (p.Lys3023Ile) c.9065A>T (p.Lys3022Ile) c.2520A>T n.9151A>T | |
19 | g.38510728A>C | CA405683818 | RYR1 | c.9069A>C (p.Lys3023Asn) c.9066A>C (p.Lys3022Asn) c.2521A>C n.9152A>C | |
19 | g.38510728A>G | CA507246248 | RYR1 | c.9069A>G (p.Lys3023=) c.9066A>G (p.Lys3022=) c.2521A>G n.9152A>G | gnomAD v4 |
19 | g.38510728A>T | CA405683816 | RYR1 | c.9069A>T (p.Lys3023Asn) c.9066A>T (p.Lys3022Asn) c.2521A>T n.9152A>T | |
19 | g.38510729G>A | CA073109 | RYR1 | c.9070G>A (p.Val3024Met) c.9067G>A (p.Val3023Met) c.2522G>A n.9153G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510729G>C | CA405683821 | RYR1 | c.9070G>C (p.Val3024Leu) c.9067G>C (p.Val3023Leu) c.2522G>C n.9153G>C | |
19 | g.38510729G= | CA2335058889 | RYR1 | c.9070G= (p.Val3024=) c.9067G= (p.Val3023=) c.2522G= n.9153G= | |
19 | g.38510729G>T | CA405683822 | RYR1 | c.9070G>T (p.Val3024Leu) c.9067G>T (p.Val3023Leu) c.2522G>T n.9153G>T | |
19 | g.38510730T>A | CA405683825 | RYR1 | c.9071T>A (p.Val3024Glu) c.9068T>A (p.Val3023Glu) c.2523T>A n.9154T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38510730T>C | CA405683826 | RYR1 | c.9071T>C (p.Val3024Ala) c.9068T>C (p.Val3023Ala) c.2523T>C n.9154T>C | ClinVar dbSNP |
19 | g.38510730T>G | CA405683828 | RYR1 | c.9071T>G (p.Val3024Gly) c.9068T>G (p.Val3023Gly) c.2523T>G n.9154T>G | |
19 | g.38510730T= | CA2335058890 | RYR1 | c.9071T= (p.Val3024=) c.9068T= (p.Val3023=) c.2523T= n.9154T= | |
19 | g.38510731G>A | CA507246251 | RYR1 | c.9072G>A (p.Val3024=) c.9069G>A (p.Val3023=) c.2524G>A n.9155G>A | |
19 | g.38510731G>C | CA507246253 | RYR1 | c.9072G>C (p.Val3024=) c.9069G>C (p.Val3023=) c.2524G>C n.9155G>C | dbSNP gnomAD v2 |
19 | g.38510731G= | CA2335058891 | RYR1 | c.9072G= (p.Val3024=) c.9069G= (p.Val3023=) c.2524G= n.9155G= | |
19 | g.38510731G>T | CA507246252 | RYR1 | c.9072G>T (p.Val3024=) c.9069G>T (p.Val3023=) c.2524G>T n.9155G>T | |
19 | g.38510732C>A | CA405683829 | RYR1 | c.9073C>A (p.Leu3025Met) c.9070C>A (p.Leu3024Met) c.2525C>A n.9156C>A | |
19 | g.38510732C>G | CA405683830 | RYR1 | c.9073C>G (p.Leu3025Val) c.9070C>G (p.Leu3024Val) c.2525C>G n.9156C>G | |
19 | g.38510732C>T | CA507246254 | RYR1 | c.9073C>T (p.Leu3025=) c.9070C>T (p.Leu3024=) c.2525C>T n.9156C>T | |
19 | g.38510733T>A | CA405683831 | RYR1 | c.9074T>A (p.Leu3025Gln) c.9071T>A (p.Leu3024Gln) c.2526T>A n.9157T>A | |
19 | g.38510733T>C | CA405683833 | RYR1 | c.9074T>C (p.Leu3025Pro) c.9071T>C (p.Leu3024Pro) c.2526T>C n.9157T>C | dbSNP gnomAD v4 |
19 | g.38510733T>G | CA405683832 | RYR1 | c.9074T>G (p.Leu3025Arg) c.9071T>G (p.Leu3024Arg) c.2526T>G n.9157T>G | |
19 | g.38510733T= | CA2335058892 | RYR1 | c.9074T= (p.Leu3025=) c.9071T= (p.Leu3024=) c.2526T= n.9157T= | |
19 | g.38510736_38510745del | CA2697556554 | RYR1 | c.9077_9086del (p.Gly3026AlafsTer10) c.9074_9083del (p.Gly3025AlafsTer10) c.2529_2538del n.9160_9169del | ClinVar |
19 | g.38510734G>A | CA073112 | RYR1 | c.9075G>A (p.Leu3025=) c.9072G>A (p.Leu3024=) c.2527G>A n.9158G>A | ClinVar dbSNP ExAC |
19 | g.38510734G>C | CA507246256 | RYR1 | c.9075G>C (p.Leu3025=) c.9072G>C (p.Leu3024=) c.2527G>C n.9158G>C | |
19 | g.38510734G= | CA2335058893 | RYR1 | c.9075G= (p.Leu3025=) c.9072G= (p.Leu3024=) c.2527G= n.9158G= | |
19 | g.38510734G>T | CA507246257 | RYR1 | c.9075G>T (p.Leu3025=) c.9072G>T (p.Leu3024=) c.2527G>T n.9158G>T | |
19 | g.38510735G>A | CA405683835 | RYR1 | c.9076G>A (p.Gly3026Ser) c.9073G>A (p.Gly3025Ser) c.2528G>A n.9159G>A | |
19 | g.38510735G>C | CA405683837 | RYR1 | c.9076G>C (p.Gly3026Arg) c.9073G>C (p.Gly3025Arg) c.2528G>C n.9159G>C | |
19 | g.38510735G>T | CA405683839 | RYR1 | c.9076G>T (p.Gly3026Cys) c.9073G>T (p.Gly3025Cys) c.2528G>T n.9159G>T | |
19 | g.38510736G>A | CA405683842 | RYR1 | c.9077G>A (p.Gly3026Asp) c.9074G>A (p.Gly3025Asp) c.2529G>A n.9160G>A | |
19 | g.38510736G>C | CA405683845 | RYR1 | c.9077G>C (p.Gly3026Ala) c.9074G>C (p.Gly3025Ala) c.2529G>C n.9160G>C | |
19 | g.38510736G>T | CA405683843 | RYR1 | c.9077G>T (p.Gly3026Val) c.9074G>T (p.Gly3025Val) c.2529G>T n.9160G>T | |
19 | g.38510737C>A | CA507246258 | RYR1 | c.9078C>A (p.Gly3026=) c.9075C>A (p.Gly3025=) c.2530C>A n.9161C>A | |
19 | g.38510737C>G | CA507246259 | RYR1 | c.9078C>G (p.Gly3026=) c.9075C>G (p.Gly3025=) c.2530C>G n.9161C>G | |
19 | g.38510737C>T | CA507246260 | RYR1 | c.9078C>T (p.Gly3026=) c.9075C>T (p.Gly3025=) c.2530C>T n.9161C>T | |
19 | g.38510738A>C | CA405683846 | RYR1 | c.9079A>C (p.Ser3027Arg) c.9076A>C (p.Ser3026Arg) c.2531A>C n.9162A>C | |
19 | g.38510738A>G | CA405683847 | RYR1 | c.9079A>G (p.Ser3027Gly) c.9076A>G (p.Ser3026Gly) c.2531A>G n.9162A>G | |
19 | g.38510738A>T | CA405683848 | RYR1 | c.9079A>T (p.Ser3027Cys) c.9076A>T (p.Ser3026Cys) c.2531A>T n.9162A>T | |
19 | g.38510738dup | CA2584902839 | RYR1 | c.9079dup (p.Ser3027LysfsTer7) c.9076dup (p.Ser3026LysfsTer7) c.2531dup n.9162dup | gnomAD v4 |
19 | g.38510739G>A | CA405683850 | RYR1 | c.9080G>A (p.Ser3027Asn) c.9077G>A (p.Ser3026Asn) c.2532G>A n.9163G>A | |
19 | g.38510739G>C | CA405683852 | RYR1 | c.9080G>C (p.Ser3027Thr) c.9077G>C (p.Ser3026Thr) c.2532G>C n.9163G>C | |
19 | g.38510739G>T | CA405683854 | RYR1 | c.9080G>T (p.Ser3027Ile) c.9077G>T (p.Ser3026Ile) c.2532G>T n.9163G>T | COSMIC |
19 | g.38510740C>A | CA405683855 | RYR1 | c.9081C>A (p.Ser3027Arg) c.9078C>A (p.Ser3026Arg) c.2533C>A n.9164C>A | COSMIC |
19 | g.38510740C= | CA2335058894 | RYR1 | c.9081C= (p.Ser3027=) c.9078C= (p.Ser3026=) c.2533C= n.9164C= | |
19 | g.38510740C>G | CA405683862 | RYR1 | c.9081C>G (p.Ser3027Arg) c.9078C>G (p.Ser3026Arg) c.2533C>G n.9164C>G | |
19 | g.38510740C>T | CA073119 | RYR1 | c.9081C>T (p.Ser3027=) c.9078C>T (p.Ser3026=) c.2533C>T n.9164C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510741G>A | CA073123 | RYR1 | c.9082G>A (p.Gly3028Ser) c.9079G>A (p.Gly3027Ser) c.2534G>A n.9165G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510741G>C | CA405683866 | RYR1 | c.9082G>C (p.Gly3028Arg) c.9079G>C (p.Gly3027Arg) c.2534G>C n.9165G>C | |
19 | g.38510741G= | CA2335058895 | RYR1 | c.9082G= (p.Gly3028=) c.9079G= (p.Gly3027=) c.2534G= n.9165G= | |
19 | g.38510741G>T | CA405683868 | RYR1 | c.9082G>T (p.Gly3028Cys) c.9079G>T (p.Gly3027Cys) c.2534G>T n.9165G>T | ClinVar |
19 | g.38510742G>A | CA405683873 | RYR1 | c.9083G>A (p.Gly3028Asp) c.9080G>A (p.Gly3027Asp) c.2535G>A n.9166G>A | |
19 | g.38510742G>C | CA405683869 | RYR1 | c.9083G>C (p.Gly3028Ala) c.9080G>C (p.Gly3027Ala) c.2535G>C n.9166G>C | ClinVar |
19 | g.38510742G>T | CA405683871 | RYR1 | c.9083G>T (p.Gly3028Val) c.9080G>T (p.Gly3027Val) c.2535G>T n.9166G>T | |
19 | g.38510742_38510743insA | CA2584902840 | RYR1 | c.9083_9084insA (p.Gly3029TrpfsTer5) c.9080_9081insA (p.Gly3028TrpfsTer5) c.2535_2536insA n.9166_9167insA | gnomAD v4 |
19 | g.38510743T>A | CA507246264 | RYR1 | c.9084T>A (p.Gly3028=) c.9081T>A (p.Gly3027=) c.2536T>A n.9167T>A | |
19 | g.38510743T>C | CA507246265 | RYR1 | c.9084T>C (p.Gly3028=) c.9081T>C (p.Gly3027=) c.2536T>C n.9167T>C | |
19 | g.38510743T>G | CA507246266 | RYR1 | c.9084T>G (p.Gly3028=) c.9081T>G (p.Gly3027=) c.2536T>G n.9167T>G | gnomAD v4 |
19 | g.38510744G>A | CA084332 | RYR1 | c.9085G>A (p.Gly3029Ser) c.9082G>A (p.Gly3028Ser) c.2537G>A n.9168G>A | |
19 | g.38510744G>C | CA405683876 | RYR1 | c.9085G>C (p.Gly3029Arg) c.9082G>C (p.Gly3028Arg) c.2537G>C n.9168G>C | |
19 | g.38510744G>T | CA405683878 | RYR1 | c.9085G>T (p.Gly3029Cys) c.9082G>T (p.Gly3028Cys) c.2537G>T n.9168G>T | |
19 | g.38510745G>A | CA405683880 | RYR1 | c.9086G>A (p.Gly3029Asp) c.9083G>A (p.Gly3028Asp) c.2538G>A n.9169G>A | |
19 | g.38510745G>C | CA405683882 | RYR1 | c.9086G>C (p.Gly3029Ala) c.9083G>C (p.Gly3028Ala) c.2538G>C n.9169G>C | dbSNP |
19 | g.38510745G= | CA2335058896 | RYR1 | c.9086G= (p.Gly3029=) c.9083G= (p.Gly3028=) c.2538G= n.9169G= | |
19 | g.38510745G>T | CA405683884 | RYR1 | c.9086G>T (p.Gly3029Val) c.9083G>T (p.Gly3028Val) c.2538G>T n.9169G>T | |
19 | g.38510746C>A | CA507246270 | RYR1 | c.9087C>A (p.Gly3029=) c.9084C>A (p.Gly3028=) c.2539C>A n.9170C>A | |
19 | g.38510746C>G | CA507246271 | RYR1 | c.9087C>G (p.Gly3029=) c.9084C>G (p.Gly3028=) c.2539C>G n.9170C>G | |
19 | g.38510746C>T | CA507246272 | RYR1 | c.9087C>T (p.Gly3029=) c.9084C>T (p.Gly3028=) c.2539C>T n.9170C>T | ClinVar |
19 | g.38510747C>A | CA405683892 | RYR1 | c.9088C>A (p.His3030Asn) c.9085C>A (p.His3029Asn) c.2540C>A n.9171C>A | |
19 | g.38510747C>G | CA405683888 | RYR1 | c.9088C>G (p.His3030Asp) c.9085C>G (p.His3029Asp) c.2540C>G n.9171C>G | |
19 | g.38510747C>T | CA405683886 | RYR1 | c.9088C>T (p.His3030Tyr) c.9085C>T (p.His3029Tyr) c.2540C>T n.9171C>T | ClinVar |
19 | g.38510748A>C | CA405683894 | RYR1 | c.9089A>C (p.His3030Pro) c.9086A>C (p.His3029Pro) c.2541A>C n.9172A>C | |
19 | g.38510748A>G | CA405683897 | RYR1 | c.9089A>G (p.His3030Arg) c.9086A>G (p.His3029Arg) c.2541A>G n.9172A>G | |
19 | g.38510748A>T | CA405683899 | RYR1 | c.9089A>T (p.His3030Leu) c.9086A>T (p.His3029Leu) c.2541A>T n.9172A>T | |
19 | g.38510749C>A | CA073127 | RYR1 | c.9090C>A (p.His3030Gln) c.9087C>A (p.His3029Gln) c.2542C>A n.9173C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38510749C= | CA2335058897 | RYR1 | c.9090C= (p.His3030=) c.9087C= (p.His3029=) c.2542C= n.9173C= | |
19 | g.38510749C>G | CA405683902 | RYR1 | c.9090C>G (p.His3030Gln) c.9087C>G (p.His3029Gln) c.2542C>G n.9173C>G | |
19 | g.38510749C>T | CA073131 | RYR1 | c.9090C>T (p.His3030=) c.9087C>T (p.His3029=) c.2542C>T n.9173C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510750G>A | CA073133 | RYR1 | c.9091G>A (p.Ala3031Thr) c.9088G>A (p.Ala3030Thr) c.2543G>A n.9174G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38510750G>C | CA405683909 | RYR1 | c.9091G>C (p.Ala3031Pro) c.9088G>C (p.Ala3030Pro) c.2543G>C n.9174G>C | |
19 | g.38510750G= | CA2335058898 | RYR1 | c.9091G= (p.Ala3031=) c.9088G= (p.Ala3030=) c.2543G= n.9174G= | |
19 | g.38510750G>T | CA405683906 | RYR1 | c.9091G>T (p.Ala3031Ser) c.9088G>T (p.Ala3030Ser) c.2543G>T n.9174G>T | |
19 | g.38510751C>A | CA405683911 | RYR1 | c.9092C>A (p.Ala3031Asp) c.9089C>A (p.Ala3030Asp) c.2544C>A n.9175C>A | |
19 | g.38510751C>G | CA405683913 | RYR1 | c.9092C>G (p.Ala3031Gly) c.9089C>G (p.Ala3030Gly) c.2544C>G n.9175C>G | |
19 | g.38510751C>T | CA405683914 | RYR1 | c.9092C>T (p.Ala3031Val) c.9089C>T (p.Ala3030Val) c.2544C>T n.9175C>T | |
19 | g.38510752C>A | CA084335 | RYR1 | c.9093C>A (p.Ala3031=) c.9090C>A (p.Ala3030=) c.2545C>A n.9176C>A | |
19 | g.38510752C= | CA2335058899 | RYR1 | c.9093C= (p.Ala3031=) c.9090C= (p.Ala3030=) c.2545C= n.9176C= | |
19 | g.38510752C>G | CA507246274 | RYR1 | c.9093C>G (p.Ala3031=) c.9090C>G (p.Ala3030=) c.2545C>G n.9176C>G | |
19 | g.38510752C>T | CA073137 | RYR1 | c.9093C>T (p.Ala3031=) c.9090C>T (p.Ala3030=) c.2545C>T n.9176C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510753T>A | CA405683915 | RYR1 | c.9094T>A (p.Ser3032Thr) c.9091T>A (p.Ser3031Thr) c.2546T>A n.9177T>A | |
19 | g.38510753T>C | CA405683916 | RYR1 | c.9094T>C (p.Ser3032Pro) c.9091T>C (p.Ser3031Pro) c.2546T>C n.9177T>C | |
19 | g.38510753T>G | CA405683917 | RYR1 | c.9094T>G (p.Ser3032Ala) c.9091T>G (p.Ser3031Ala) c.2546T>G n.9177T>G | |
19 | g.38510754C>A | CA405683920 | RYR1 | c.9095C>A (p.Ser3032Tyr) c.9092C>A (p.Ser3031Tyr) c.2547C>A n.9178C>A | COSMIC |
19 | g.38510754C>G | CA405683922 | RYR1 | c.9095C>G (p.Ser3032Cys) c.9092C>G (p.Ser3031Cys) c.2547C>G n.9178C>G | gnomAD v4 |
19 | g.38510754C>T | CA405683929 | RYR1 | c.9095C>T (p.Ser3032Phe) c.9092C>T (p.Ser3031Phe) c.2547C>T n.9178C>T | |
19 | g.38510755T>A | CA073142 | RYR1 | c.9096T>A (p.Ser3032=) c.9093T>A (p.Ser3031=) c.2548T>A n.9179T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510755T>C | CA507246276 | RYR1 | c.9096T>C (p.Ser3032=) c.9093T>C (p.Ser3031=) c.2548T>C n.9179T>C | |
19 | g.38510755T>G | CA507246277 | RYR1 | c.9096T>G (p.Ser3032=) c.9093T>G (p.Ser3031=) c.2548T>G n.9179T>G | |
19 | g.38510755T= | CA2335058900 | RYR1 | c.9096T= (p.Ser3032=) c.9093T= (p.Ser3031=) c.2548T= n.9179T= | |
19 | g.38510756A>C | CA405683934 | RYR1 | c.9097A>C (p.Asn3033His) c.9094A>C (p.Asn3032His) c.2549A>C n.9180A>C | |
19 | g.38510756A>G | CA405683940 | RYR1 | c.9097A>G (p.Asn3033Asp) c.9094A>G (p.Asn3032Asp) c.2549A>G n.9180A>G | |
19 | g.38510756A>T | CA405683936 | RYR1 | c.9097A>T (p.Asn3033Tyr) c.9094A>T (p.Asn3032Tyr) c.2549A>T n.9180A>T | |
19 | g.38510757A>C | CA405683942 | RYR1 | c.9098A>C (p.Asn3033Thr) c.9095A>C (p.Asn3032Thr) c.2550A>C n.9181A>C | |
19 | g.38510757A>G | CA405683946 | RYR1 | c.9098A>G (p.Asn3033Ser) c.9095A>G (p.Asn3032Ser) c.2550A>G n.9181A>G | gnomAD v4 |
19 | g.38510757A>T | CA405683945 | RYR1 | c.9098A>T (p.Asn3033Ile) c.9095A>T (p.Asn3032Ile) c.2550A>T n.9181A>T | |
19 | g.38510758C>A | CA405683949 | RYR1 | c.9099C>A (p.Asn3033Lys) c.9096C>A (p.Asn3032Lys) c.2551C>A n.9182C>A | |
19 | g.38510758C>G | CA405683962 | RYR1 | c.9099C>G (p.Asn3033Lys) c.9096C>G (p.Asn3032Lys) c.2551C>G n.9182C>G | gnomAD v4 |
19 | g.38510758C>T | CA507246279 | RYR1 | c.9099C>T (p.Asn3033=) c.9096C>T (p.Asn3032=) c.2551C>T n.9182C>T | gnomAD v4 |
19 | g.38510759A>C | CA405683965 | RYR1 | c.9100A>C (p.Lys3034Gln) c.9097A>C (p.Lys3033Gln) c.2552A>C n.9183A>C | |
19 | g.38510759A>G | CA405683967 | RYR1 | c.9100A>G (p.Lys3034Glu) c.9097A>G (p.Lys3033Glu) c.2552A>G n.9183A>G | gnomAD v4 |
19 | g.38510759A>T | CA405683969 | RYR1 | c.9100A>T (p.Lys3034Ter) c.9097A>T (p.Lys3033Ter) c.2552A>T n.9183A>T | |
19 | g.38510759_38510761del | CA2584902841 | RYR1 | c.9100_9102del (p.Lys3034del) c.9097_9099del (p.Lys3033del) c.2552_2554del n.9183_9185del | gnomAD v4 |
19 | g.38510760A= | CA2335058901 | RYR1 | c.9101A= (p.Lys3034=) c.9098A= (p.Lys3033=) c.2553A= n.9184A= | |
19 | g.38510760A>C | CA073148 | RYR1 | c.9101A>C (p.Lys3034Thr) c.9098A>C (p.Lys3033Thr) c.2553A>C n.9184A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510760A>G | CA405683981 | RYR1 | c.9101A>G (p.Lys3034Arg) c.9098A>G (p.Lys3033Arg) c.2553A>G n.9184A>G | |
19 | g.38510760A>T | CA405683983 | RYR1 | c.9101A>T (p.Lys3034Met) c.9098A>T (p.Lys3033Met) c.2553A>T n.9184A>T | |
19 | g.38510761G>A | CA507246281 | RYR1 | c.9102G>A (p.Lys3034=) c.9099G>A (p.Lys3033=) c.2554G>A n.9185G>A | ClinVar |
19 | g.38510761G>C | CA405683985 | RYR1 | c.9102G>C (p.Lys3034Asn) c.9099G>C (p.Lys3033Asn) c.2554G>C n.9185G>C | |
19 | g.38510761G>T | CA405683986 | RYR1 | c.9102G>T (p.Lys3034Asn) c.9099G>T (p.Lys3033Asn) c.2554G>T n.9185G>T | |
19 | g.38510762G>A | CA405683987 | RYR1 | c.9103G>A (p.Glu3035Lys) c.9100G>A (p.Glu3034Lys) c.2555G>A n.9186G>A | ClinVar gnomAD v4 |
19 | g.38510762G>C | CA308123387 | RYR1 | c.9103G>C (p.Glu3035Gln) c.9100G>C (p.Glu3034Gln) c.2555G>C n.9186G>C | ClinVar dbSNP gnomAD v4 |
19 | g.38510762G= | CA2335058902 | RYR1 | c.9103G= (p.Glu3035=) c.9100G= (p.Glu3034=) c.2555G= n.9186G= | |
19 | g.38510762G>T | CA405683988 | RYR1 | c.9103G>T (p.Glu3035Ter) c.9100G>T (p.Glu3034Ter) c.2555G>T n.9186G>T | |
19 | g.38510763A>C | CA084346 | RYR1 | c.9104A>C (p.Glu3035Ala) c.9101A>C (p.Glu3034Ala) c.2556A>C n.9187A>C | |
19 | g.38510763A>G | CA405683989 | RYR1 | c.9104A>G (p.Glu3035Gly) c.9101A>G (p.Glu3034Gly) c.2556A>G n.9187A>G | COSMIC |
19 | g.38510763A>T | CA405683990 | RYR1 | c.9104A>T (p.Glu3035Val) c.9101A>T (p.Glu3034Val) c.2556A>T n.9187A>T | |
19 | g.38510764G>A | CA507246285 | RYR1 | c.9105G>A (p.Glu3035=) c.9102G>A (p.Glu3034=) c.2557G>A n.9188G>A | |
19 | g.38510764G>C | CA405683993 | RYR1 | c.9105G>C (p.Glu3035Asp) c.9102G>C (p.Glu3034Asp) c.2557G>C n.9188G>C | |
19 | g.38510764G>T | CA405683997 | RYR1 | c.9105G>T (p.Glu3035Asp) c.9102G>T (p.Glu3034Asp) c.2557G>T n.9188G>T | |
19 | g.38510765A>C | CA405684004 | RYR1 | c.9106A>C (p.Lys3036Gln) c.9103A>C (p.Lys3035Gln) c.2558A>C n.9189A>C | |
19 | g.38510765A>G | CA405684017 | RYR1 | c.9106A>G (p.Lys3036Glu) c.9103A>G (p.Lys3035Glu) c.2558A>G n.9189A>G | |
19 | g.38510765A>T | CA405684019 | RYR1 | c.9106A>T (p.Lys3036Ter) c.9103A>T (p.Lys3035Ter) c.2558A>T n.9189A>T | |
19 | g.38510766del | CA2584902842 | RYR1 | c.9107del (p.Lys3036ArgfsTer3) c.9104del (p.Lys3035ArgfsTer3) c.2559del n.9190del | gnomAD v4 |
19 | g.38510766A>C | CA405684021 | RYR1 | c.9107A>C (p.Lys3036Thr) c.9104A>C (p.Lys3035Thr) c.2559A>C n.9190A>C | |
19 | g.38510766A>G | CA405684022 | RYR1 | c.9107A>G (p.Lys3036Arg) c.9104A>G (p.Lys3035Arg) c.2559A>G n.9190A>G | |
19 | g.38510766A>T | CA405684023 | RYR1 | c.9107A>T (p.Lys3036Met) c.9104A>T (p.Lys3035Met) c.2559A>T n.9190A>T | |
19 | g.38510767G>A | CA507246287 | RYR1 | c.9108G>A (p.Lys3036=) c.9105G>A (p.Lys3035=) c.2560G>A n.9191G>A | gnomAD v4 |
19 | g.38510767G>C | CA405684024 | RYR1 | c.9108G>C (p.Lys3036Asn) c.9105G>C (p.Lys3035Asn) c.2560G>C n.9191G>C | gnomAD v4 |
19 | g.38510767G>T | CA405684025 | RYR1 | c.9108G>T (p.Lys3036Asn) c.9105G>T (p.Lys3035Asn) c.2560G>T n.9191G>T | |
19 | g.38510768G>A | CA405684030 | RYR1 | c.9109G>A (p.Glu3037Lys) c.9106G>A (p.Glu3036Lys) c.2561G>A n.9192G>A | COSMIC |
19 | g.38510768G>C | CA405684038 | RYR1 | c.9109G>C (p.Glu3037Gln) c.9106G>C (p.Glu3036Gln) c.2561G>C n.9192G>C | |
19 | g.38510768G>T | CA405684028 | RYR1 | c.9109G>T (p.Glu3037Ter) c.9106G>T (p.Glu3036Ter) c.2561G>T n.9192G>T | |
19 | g.38510769A>C | CA405684043 | RYR1 | c.9110A>C (p.Glu3037Ala) c.9107A>C (p.Glu3036Ala) c.2562A>C n.9193A>C | |
19 | g.38510769A>G | CA405684045 | RYR1 | c.9110A>G (p.Glu3037Gly) c.9107A>G (p.Glu3036Gly) c.2562A>G n.9193A>G | |
19 | g.38510769A>T | CA405684054 | RYR1 | c.9110A>T (p.Glu3037Val) c.9107A>T (p.Glu3036Val) c.2562A>T n.9193A>T | |
19 | g.38510770A>C | CA405684058 | RYR1 | c.9111A>C (p.Glu3037Asp) c.9108A>C (p.Glu3036Asp) c.2563A>C n.9194A>C | |
19 | g.38510770A>G | CA507246290 | RYR1 | c.9111A>G (p.Glu3037=) c.9108A>G (p.Glu3036=) c.2563A>G n.9194A>G | |
19 | g.38510770A>T | CA405684061 | RYR1 | c.9111A>T (p.Glu3037Asp) c.9108A>T (p.Glu3036Asp) c.2563A>T n.9194A>T | |
19 | g.38510771A= | CA2335058903 | RYR1 | c.9112A= (p.Met3038=) c.9109A= (p.Met3037=) c.2564A= n.9195A= | |
19 | g.38510771A>C | CA405684062 | RYR1 | c.9112A>C (p.Met3038Leu) c.9109A>C (p.Met3037Leu) c.2564A>C n.9195A>C | |
19 | g.38510771A>G | CA405684065 | RYR1 | c.9112A>G (p.Met3038Val) c.9109A>G (p.Met3037Val) c.2564A>G n.9195A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510771A>T | CA405684070 | RYR1 | c.9112A>T (p.Met3038Leu) c.9109A>T (p.Met3037Leu) c.2564A>T n.9195A>T | |
19 | g.38510772T>A | CA405684077 | RYR1 | c.9113T>A (p.Met3038Lys) c.9110T>A (p.Met3037Lys) c.2565T>A n.9196T>A | gnomAD v4 |
19 | g.38510772T>C | CA405684078 | RYR1 | c.9113T>C (p.Met3038Thr) c.9110T>C (p.Met3037Thr) c.2565T>C n.9196T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38510772T>G | CA405684094 | RYR1 | c.9113T>G (p.Met3038Arg) c.9110T>G (p.Met3037Arg) c.2565T>G n.9196T>G | |
19 | g.38510772T= | CA2335058904 | RYR1 | c.9113T= (p.Met3038=) c.9110T= (p.Met3037=) c.2565T= n.9196T= | |
19 | g.38510773G>A | CA073152 | RYR1 | c.9114G>A (p.Met3038Ile) c.9111G>A (p.Met3037Ile) c.2566G>A n.9197G>A | dbSNP ExAC gnomAD v2 |
19 | g.38510773G>C | CA405684107 | RYR1 | c.9114G>C (p.Met3038Ile) c.9111G>C (p.Met3037Ile) c.2566G>C n.9197G>C | |
19 | g.38510773G= | CA2335058905 | RYR1 | c.9114G= (p.Met3038=) c.9111G= (p.Met3037=) c.2566G= n.9197G= | |
19 | g.38510773G>T | CA405684098 | RYR1 | c.9114G>T (p.Met3038Ile) c.9111G>T (p.Met3037Ile) c.2566G>T n.9197G>T | |
19 | g.38510774A>C | CA405684114 | RYR1 | c.9115A>C (p.Ile3039Leu) c.9112A>C (p.Ile3038Leu) c.2567A>C n.9198A>C | |
19 | g.38510774A>G | CA405684118 | RYR1 | c.9115A>G (p.Ile3039Val) c.9112A>G (p.Ile3038Val) c.2567A>G n.9198A>G | |
19 | g.38510774A>T | CA405684119 | RYR1 | c.9115A>T (p.Ile3039Phe) c.9112A>T (p.Ile3038Phe) c.2567A>T n.9198A>T | |
19 | g.38510775T>A | CA405684128 | RYR1 | c.9116T>A (p.Ile3039Asn) c.9113T>A (p.Ile3038Asn) c.2568T>A n.9199T>A | |
19 | g.38510775T>C | CA405684131 | RYR1 | c.9116T>C (p.Ile3039Thr) c.9113T>C (p.Ile3038Thr) c.2568T>C n.9199T>C | |
19 | g.38510775T>G | CA405684132 | RYR1 | c.9116T>G (p.Ile3039Ser) c.9113T>G (p.Ile3038Ser) c.2568T>G n.9199T>G | |
19 | g.38510776C>A | CA507246292 | RYR1 | c.9117C>A (p.Ile3039=) c.9114C>A (p.Ile3038=) c.2569C>A n.9200C>A | |
19 | g.38510776C>G | CA405684135 | RYR1 | c.9117C>G (p.Ile3039Met) c.9114C>G (p.Ile3038Met) c.2569C>G n.9200C>G | |
19 | g.38510776C>T | CA507246295 | RYR1 | c.9117C>T (p.Ile3039=) c.9114C>T (p.Ile3038=) c.2569C>T n.9200C>T | |
19 | g.38510777A>C | CA405684138 | RYR1 | c.9118A>C (p.Thr3040Pro) c.9115A>C (p.Thr3039Pro) c.2570A>C n.9201A>C | |
19 | g.38510777A>G | CA405684142 | RYR1 | c.9118A>G (p.Thr3040Ala) c.9115A>G (p.Thr3039Ala) c.2570A>G n.9201A>G | |
19 | g.38510777A>T | CA405684146 | RYR1 | c.9118A>T (p.Thr3040Ser) c.9115A>T (p.Thr3039Ser) c.2570A>T n.9201A>T | |
19 | g.38510778C>A | CA405684153 | RYR1 | c.9119C>A (p.Thr3040Asn) c.9116C>A (p.Thr3039Asn) c.2571C>A n.9202C>A | ClinVar |
19 | g.38510778C>G | CA405684155 | RYR1 | c.9119C>G (p.Thr3040Ser) c.9116C>G (p.Thr3039Ser) c.2571C>G n.9202C>G | |
19 | g.38510778C>T | CA405684159 | RYR1 | c.9119C>T (p.Thr3040Ile) c.9116C>T (p.Thr3039Ile) c.2571C>T n.9202C>T | |
19 | g.38510779C>A | CA507246296 | RYR1 | c.9120C>A (p.Thr3040=) c.9117C>A (p.Thr3039=) c.2572C>A n.9203C>A | |
19 | g.38510779C>G | CA507246297 | RYR1 | c.9120C>G (p.Thr3040=) c.9117C>G (p.Thr3039=) c.2572C>G n.9203C>G | gnomAD v4 |
19 | g.38510779C>T | CA507246299 | RYR1 | c.9120C>T (p.Thr3040=) c.9117C>T (p.Thr3039=) c.2572C>T n.9203C>T | |
19 | g.38510780A>C | CA405684166 | RYR1 | c.9121A>C (p.Ser3041Arg) c.9118A>C (p.Ser3040Arg) c.2573A>C n.9204A>C | |
19 | g.38510780A>G | CA405684182 | RYR1 | c.9121A>G (p.Ser3041Gly) c.9118A>G (p.Ser3040Gly) c.2573A>G n.9204A>G | |
19 | g.38510780A>T | CA405684163 | RYR1 | c.9121A>T (p.Ser3041Cys) c.9118A>T (p.Ser3040Cys) c.2573A>T n.9204A>T | |
19 | g.38510780_38510781delinsCA | CA2573156330 | RYR1 | c.9121_9122delinsCA (p.Ser3041His) c.9118_9119delinsCA (p.Ser3040His) c.2573_2574delinsCA n.9204_9205delinsCA | ClinVar dbSNP |
19 | g.38510781G>A | CA308123409 | RYR1 | c.9122G>A (p.Ser3041Asn) c.9119G>A (p.Ser3040Asn) c.2574G>A n.9205G>A | dbSNP |
19 | g.38510781G>C | CA405684189 | RYR1 | c.9122G>C (p.Ser3041Thr) c.9119G>C (p.Ser3040Thr) c.2574G>C n.9205G>C | |
19 | g.38510781G= | CA2335058906 | RYR1 | c.9122G= (p.Ser3041=) c.9119G= (p.Ser3040=) c.2574G= n.9205G= | |
19 | g.38510781G>T | CA405684191 | RYR1 | c.9122G>T (p.Ser3041Ile) c.9119G>T (p.Ser3040Ile) c.2574G>T n.9205G>T | |
19 | g.38510782G>A | CA405684193 | RYR1 | c.9122+1G>A (n.9122+1G>A) c.9119+1G>A (n.9119+1G>A) c.2574+1G>A n.9205+1G>A | |
19 | g.38510782G>C | CA308123415 | RYR1 | c.9122+1G>C (n.9122+1G>C) c.9119+1G>C (n.9119+1G>C) c.2574+1G>C n.9205+1G>C | dbSNP |
19 | g.38510782G= | CA2335058907 | RYR1 | c.9122+1G= (n.9122+1G=) c.9119+1G= (n.9119+1G=) c.2574+1G= n.9205+1G= | |
19 | g.38510782G>T | CA405684197 | RYR1 | c.9122+1G>T (n.9122+1G>T) c.9119+1G>T (n.9119+1G>T) c.2574+1G>T n.9205+1G>T | |
19 | g.38510783T>A | CA405684200 | RYR1 | c.9122+2T>A (n.9122+2T>A) c.9119+2T>A (n.9119+2T>A) c.2574+2T>A n.9205+2T>A | |
19 | g.38510783T>C | CA405684204 | RYR1 | c.9122+2T>C (n.9122+2T>C) c.9119+2T>C (n.9119+2T>C) c.2574+2T>C n.9205+2T>C | |
19 | g.38510783T>G | CA405684206 | RYR1 | c.9122+2T>G (n.9122+2T>G) c.9119+2T>G (n.9119+2T>G) c.2574+2T>G n.9205+2T>G | |
19 | g.38510784G>A | CA2584902843 | RYR1 | c.9122+3G>A (n.9122+3G>A) c.9119+3G>A (n.9119+3G>A) c.2574+3G>A n.9205+3G>A | gnomAD v4 |
19 | g.38510785G>A | CA2584902844 | RYR1 | c.9122+4G>A (n.9122+4G>A) c.9119+4G>A (n.9119+4G>A) c.2574+4G>A n.9205+4G>A | gnomAD v4 |
19 | g.38510786G>C | CA2736033311 | RYR1 | c.9122+5G>C (n.9122+5G>C) c.9119+5G>C (n.9119+5G>C) c.2574+5G>C n.9205+5G>C | dbSNP |
19 | g.38510788C>A | CA2576771379 | RYR1 | c.9122+7C>A (n.9122+7C>A) c.9119+7C>A (n.9119+7C>A) c.2574+7C>A n.9205+7C>A | ClinVar gnomAD v4 |
19 | g.38510788C= | CA2335058908 | RYR1 | c.9122+7C= (n.9122+7C=) c.9119+7C= (n.9119+7C=) c.2574+7C= n.9205+7C= | |
19 | g.38510788C>G | CA2335058909 | RYR1 | c.9122+7C>G (n.9122+7C>G) c.9119+7C>G (n.9119+7C>G) c.2574+7C>G n.9205+7C>G | dbSNP |
19 | g.38510788C>T | CA073179 | RYR1 | c.9122+7C>T (n.9122+7C>T) c.9119+7C>T (n.9119+7C>T) c.2574+7C>T n.9205+7C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510789G>A | CA073182 | RYR1 | c.9122+8G>A (n.9122+8G>A) c.9119+8G>A (n.9119+8G>A) c.2574+8G>A n.9205+8G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510789G= | CA2335058910 | RYR1 | c.9122+8G= (n.9122+8G=) c.9119+8G= (n.9119+8G=) c.2574+8G= n.9205+8G= | |
19 | g.38510790C>A | CA2697556555 | RYR1 | c.9122+9C>A (n.9122+9C>A) c.9119+9C>A (n.9119+9C>A) c.2574+9C>A n.9205+9C>A | ClinVar |
19 | g.38510791del | CA2584902846 | RYR1 | c.9122+10del (n.9122+10del) c.9119+10del (n.9119+10del) c.2574+10del n.9205+10del | gnomAD v4 |
19 | g.38510794_38510859del | CA2584902845 | RYR1 | c.9122+13_9122+78del (n.9122+13_9122+78del) c.9119+13_9119+78del (n.9119+13_9119+78del) c.2574+13_2574+78del n.9205+13_9205+78del | gnomAD v4 |
19 | g.38510791C>A | CA633066696 | RYR1 | c.9122+10C>A (n.9122+10C>A) c.9119+10C>A (n.9119+10C>A) c.2574+10C>A n.9205+10C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38510791C= | CA2335058911 | RYR1 | c.9122+10C= (n.9122+10C=) c.9119+10C= (n.9119+10C=) c.2574+10C= n.9205+10C= | |
19 | g.38510792T>C | CA308123418 | RYR1 | c.9122+11T>C (n.9122+11T>C) c.9119+11T>C (n.9119+11T>C) c.2574+11T>C n.9205+11T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38510792T= | CA2335058912 | RYR1 | c.9122+11T= (n.9122+11T=) c.9119+11T= (n.9119+11T=) c.2574+11T= n.9205+11T= | |
19 | g.38510793G>A | CA2335058914 | RYR1 | c.9122+12G>A (n.9122+12G>A) c.9119+12G>A (n.9119+12G>A) c.2574+12G>A n.9205+12G>A | dbSNP gnomAD v4 |
19 | g.38510793G= | CA2335058913 | RYR1 | c.9122+12G= (n.9122+12G=) c.9119+12G= (n.9119+12G=) c.2574+12G= n.9205+12G= | |
19 | g.38510794T>C | CA073154 | RYR1 | c.9122+13T>C (n.9122+13T>C) c.9119+13T>C (n.9119+13T>C) c.2574+13T>C n.9205+13T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38510794T>G | CA995728582 | RYR1 | c.9122+13T>G (n.9122+13T>G) c.9119+13T>G (n.9119+13T>G) c.2574+13T>G n.9205+13T>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38510794T= | CA2335058915 | RYR1 | c.9122+13T= (n.9122+13T=) c.9119+13T= (n.9119+13T=) c.2574+13T= n.9205+13T= | |
19 | g.38510795G>A | CA073156 | RYR1 | c.9122+14G>A (n.9122+14G>A) c.9119+14G>A (n.9119+14G>A) c.2574+14G>A n.9205+14G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38510795G= | CA2335058916 | RYR1 | c.9122+14G= (n.9122+14G=) c.9119+14G= (n.9119+14G=) c.2574+14G= n.9205+14G= | |
19 | g.38510796A= | CA2335058917 | RYR1 | c.9122+15A= (n.9122+15A=) c.9119+15A= (n.9119+15A=) c.2574+15A= n.9205+15A= | |
19 | g.38510796A>G | CA308123435 | RYR1 | c.9122+15A>G (n.9122+15A>G) c.9119+15A>G (n.9119+15A>G) c.2574+15A>G n.9205+15A>G | ClinVar dbSNP gnomAD v4 |
19 | g.38510799del | CA2580097169 | RYR1 | c.9122+18del (n.9122+18del) c.9119+18del (n.9119+18del) c.2574+18del n.9205+18del | ClinVar |
19 | g.38510799C= | CA2335058918 | RYR1 | c.9122+18C= (n.9122+18C=) c.9119+18C= (n.9119+18C=) c.2574+18C= n.9205+18C= | |
19 | g.38510799C>G | CA2335058919 | RYR1 | c.9122+18C>G (n.9122+18C>G) c.9119+18C>G (n.9119+18C>G) c.2574+18C>G n.9205+18C>G | dbSNP gnomAD v4 |
19 | g.38510801G>A | CA2584902847 | RYR1 | c.9122+20G>A (n.9122+20G>A) c.9119+20G>A (n.9119+20G>A) c.2574+20G>A n.9205+20G>A | gnomAD v4 |
19 | g.38510801G>C | CA2584902848 | RYR1 | c.9122+20G>C (n.9122+20G>C) c.9119+20G>C (n.9119+20G>C) c.2574+20G>C n.9205+20G>C | gnomAD v4 |
19 | g.38510802G>A | CA2584902849 | RYR1 | c.9122+21G>A (n.9122+21G>A) c.9119+21G>A (n.9119+21G>A) c.2574+21G>A n.9205+21G>A | gnomAD v4 |
19 | g.38510804C>T | CA2584902850 | RYR1 | c.9122+23C>T (n.9122+23C>T) c.9119+23C>T (n.9119+23C>T) c.2574+23C>T n.9205+23C>T | gnomAD v4 |
19 | g.38510806C>A | CA657212571 | RYR1 | c.9122+25C>A (n.9122+25C>A) c.9119+25C>A (n.9119+25C>A) c.2574+25C>A n.9205+25C>A | COSMIC |
19 | g.38510808G>A | CA2335058922 | RYR1 | c.9122+27G>A (n.9122+27G>A) c.9119+27G>A (n.9119+27G>A) c.2574+27G>A n.9205+27G>A | dbSNP |
19 | g.38510808G= | CA2335058921 | RYR1 | c.9122+27G= (n.9122+27G=) c.9119+27G= (n.9119+27G=) c.2574+27G= n.9205+27G= | |
19 | g.38510808_38510809delinsGC | CA2335058920 | RYR1 | c.9122+27_9122+28delinsGC (n.9122+27_9122+28delinsGC) c.9119+27_9119+28delinsGC (n.9119+27_9119+28delinsGC) c.2574+27_2574+28delinsGC n.9205+27_9205+28delinsGC | |
19 | g.38510809C>A | CA2584902851 | RYR1 | c.9122+28C>A (n.9122+28C>A) c.9119+28C>A (n.9119+28C>A) c.2574+28C>A n.9205+28C>A | gnomAD v4 |
19 | g.38510813dup | CA2814347355 | RYR1 | c.9122+32dup (n.9122+32dup) c.9119+32dup (n.9119+32dup) c.2574+32dup n.9205+32dup | |
19 | g.38510813del | CA073160 | RYR1 | c.9122+32del (n.9122+32del) c.9119+32del (n.9119+32del) c.2574+32del n.9205+32del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510811C= | CA2335058923 | RYR1 | c.9122+30C= (n.9122+30C=) c.9119+30C= (n.9119+30C=) c.2574+30C= n.9205+30C= | |
19 | g.38510811C>T | CA633066697 | RYR1 | c.9122+30C>T (n.9122+30C>T) c.9119+30C>T (n.9119+30C>T) c.2574+30C>T n.9205+30C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510812C= | CA2335058924 | RYR1 | c.9122+31C= (n.9122+31C=) c.9119+31C= (n.9119+31C=) c.2574+31C= n.9205+31C= | |
19 | g.38510812C>T | CA308123447 | RYR1 | c.9122+31C>T (n.9122+31C>T) c.9119+31C>T (n.9119+31C>T) c.2574+31C>T n.9205+31C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38510813C= | CA2335058925 | RYR1 | c.9122+32C= (n.9122+32C=) c.9119+32C= (n.9119+32C=) c.2574+32C= n.9205+32C= | |
19 | g.38510813C>G | CA073162 | RYR1 | c.9122+32C>G (n.9122+32C>G) c.9119+32C>G (n.9119+32C>G) c.2574+32C>G n.9205+32C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38510813C>T | CA633066698 | RYR1 | c.9122+32C>T (n.9122+32C>T) c.9119+32C>T (n.9119+32C>T) c.2574+32C>T n.9205+32C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38510814del | CA2584902852 | RYR1 | c.9122+33del (n.9122+33del) c.9119+33del (n.9119+33del) c.2574+33del n.9205+33del | gnomAD v4 |