Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38510671T>A | CA507246203 | RYR1 | c.9012T>A (p.Pro3004=) c.9009T>A (p.Pro3003=) c.2464T>A n.9095T>A | |
19 | g.38510671T>C | CA507246205 | RYR1 | c.9012T>C (p.Pro3004=) c.9009T>C (p.Pro3003=) c.2464T>C n.9095T>C | |
19 | g.38510671T>G | CA507246204 | RYR1 | c.9012T>G (p.Pro3004=) c.9009T>G (p.Pro3003=) c.2464T>G n.9095T>G | |
19 | g.38510672T>A | CA405683593 | RYR1 | c.9013T>A (p.Leu3005Met) c.9010T>A (p.Leu3004Met) c.2465T>A n.9096T>A | ClinVar dbSNP |
19 | g.38510672T>C | CA507246206 | RYR1 | c.9013T>C (p.Leu3005=) c.9010T>C (p.Leu3004=) c.2465T>C n.9096T>C | |
19 | g.38510672T>G | CA405683595 | RYR1 | c.9013T>G (p.Leu3005Val) c.9010T>G (p.Leu3004Val) c.2465T>G n.9096T>G | |
19 | g.38510672T= | CA2335058869 | RYR1 | c.9013T= (p.Leu3005=) c.9010T= (p.Leu3004=) c.2465T= n.9096T= | |
19 | g.38510673T>A | CA405683597 | RYR1 | c.9014T>A (p.Leu3005Ter) c.9011T>A (p.Leu3004Ter) c.2466T>A n.9097T>A | |
19 | g.38510673T>C | CA073085 | RYR1 | c.9014T>C (p.Leu3005Ser) c.9011T>C (p.Leu3004Ser) c.2466T>C n.9097T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510673T>G | CA405683601 | RYR1 | c.9014T>G (p.Leu3005Trp) c.9011T>G (p.Leu3004Trp) c.2466T>G n.9097T>G | |
19 | g.38510673T= | CA2335058870 | RYR1 | c.9014T= (p.Leu3005=) c.9011T= (p.Leu3004=) c.2466T= n.9097T= | |
19 | g.38510674G>A | CA507246207 | RYR1 | c.9015G>A (p.Leu3005=) c.9012G>A (p.Leu3004=) c.2467G>A n.9098G>A | |
19 | g.38510674G>C | CA405683603 | RYR1 | c.9015G>C (p.Leu3005Phe) c.9012G>C (p.Leu3004Phe) c.2467G>C n.9098G>C | |
19 | g.38510674G>T | CA405683605 | RYR1 | c.9015G>T (p.Leu3005Phe) c.9012G>T (p.Leu3004Phe) c.2467G>T n.9098G>T | COSMIC |
19 | g.38510675A>C | CA405683607 | RYR1 | c.9016A>C (p.Ile3006Leu) c.9013A>C (p.Ile3005Leu) c.2468A>C n.9099A>C | |
19 | g.38510675A>G | CA405683608 | RYR1 | c.9016A>G (p.Ile3006Val) c.9013A>G (p.Ile3005Val) c.2468A>G n.9099A>G | |
19 | g.38510675A>T | CA405683609 | RYR1 | c.9016A>T (p.Ile3006Phe) c.9013A>T (p.Ile3005Phe) c.2468A>T n.9099A>T | |
19 | g.38510676T>A | CA405683611 | RYR1 | c.9017T>A (p.Ile3006Asn) c.9014T>A (p.Ile3005Asn) c.2469T>A n.9100T>A | |
19 | g.38510676T>C | CA084313 | RYR1 | c.9017T>C (p.Ile3006Thr) c.9014T>C (p.Ile3005Thr) c.2469T>C n.9100T>C | |
19 | g.38510676T>G | CA405683610 | RYR1 | c.9017T>G (p.Ile3006Ser) c.9014T>G (p.Ile3005Ser) c.2469T>G n.9100T>G | |
19 | g.38510677C>A | CA507246208 | RYR1 | c.9018C>A (p.Ile3006=) c.9015C>A (p.Ile3005=) c.2470C>A n.9101C>A | |
19 | g.38510677C>G | CA405683612 | RYR1 | c.9018C>G (p.Ile3006Met) c.9015C>G (p.Ile3005Met) c.2470C>G n.9101C>G | |
19 | g.38510677C>T | CA507246209 | RYR1 | c.9018C>T (p.Ile3006=) c.9015C>T (p.Ile3005=) c.2470C>T n.9101C>T | |
19 | g.38510678A>C | CA405683615 | RYR1 | c.9019A>C (p.Asn3007His) c.9016A>C (p.Asn3006His) c.2471A>C n.9102A>C | |
19 | g.38510678A>G | CA405683613 | RYR1 | c.9019A>G (p.Asn3007Asp) c.9016A>G (p.Asn3006Asp) c.2471A>G n.9102A>G | |
19 | g.38510678A>T | CA405683614 | RYR1 | c.9019A>T (p.Asn3007Tyr) c.9016A>T (p.Asn3006Tyr) c.2471A>T n.9102A>T | |
19 | g.38510679A= | CA2335058871 | RYR1 | c.9020A= (p.Asn3007=) c.9017A= (p.Asn3006=) c.2472A= n.9103A= | |
19 | g.38510679A>C | CA405683616 | RYR1 | c.9020A>C (p.Asn3007Thr) c.9017A>C (p.Asn3006Thr) c.2472A>C n.9103A>C | |
19 | g.38510679A>G | CA405683617 | RYR1 | c.9020A>G (p.Asn3007Ser) c.9017A>G (p.Asn3006Ser) c.2472A>G n.9103A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38510679A>T | CA405683618 | RYR1 | c.9020A>T (p.Asn3007Ile) c.9017A>T (p.Asn3006Ile) c.2472A>T n.9103A>T | |
19 | g.38510680C>A | CA405683619 | RYR1 | c.9021C>A (p.Asn3007Lys) c.9018C>A (p.Asn3006Lys) c.2473C>A n.9104C>A | |
19 | g.38510680C>G | CA405683621 | RYR1 | c.9021C>G (p.Asn3007Lys) c.9018C>G (p.Asn3006Lys) c.2473C>G n.9104C>G | |
19 | g.38510680C>T | CA507246210 | RYR1 | c.9021C>T (p.Asn3007=) c.9018C>T (p.Asn3006=) c.2473C>T n.9104C>T | |
19 | g.38510681C>A | CA405683622 | RYR1 | c.9022C>A (p.Gln3008Lys) c.9019C>A (p.Gln3007Lys) c.2474C>A n.9105C>A | |
19 | g.38510681C>G | CA405683623 | RYR1 | c.9022C>G (p.Gln3008Glu) c.9019C>G (p.Gln3007Glu) c.2474C>G n.9105C>G | |
19 | g.38510681C>T | CA405683624 | RYR1 | c.9022C>T (p.Gln3008Ter) c.9019C>T (p.Gln3007Ter) c.2474C>T n.9105C>T | |
19 | g.38510682A>C | CA405683626 | RYR1 | c.9023A>C (p.Gln3008Pro) c.9020A>C (p.Gln3007Pro) c.2475A>C n.9106A>C | |
19 | g.38510682A>G | CA405683627 | RYR1 | c.9023A>G (p.Gln3008Arg) c.9020A>G (p.Gln3007Arg) c.2475A>G n.9106A>G | |
19 | g.38510682A>T | CA405683628 | RYR1 | c.9023A>T (p.Gln3008Leu) c.9020A>T (p.Gln3007Leu) c.2475A>T n.9106A>T | |
19 | g.38510683G>A | CA507246211 | RYR1 | c.9024G>A (p.Gln3008=) c.9021G>A (p.Gln3007=) c.2476G>A n.9107G>A | |
19 | g.38510683G>C | CA405683629 | RYR1 | c.9024G>C (p.Gln3008His) c.9021G>C (p.Gln3007His) c.2476G>C n.9107G>C | |
19 | g.38510683G>T | CA405683630 | RYR1 | c.9024G>T (p.Gln3008His) c.9021G>T (p.Gln3007His) c.2476G>T n.9107G>T | |
19 | g.38510684T>A | CA405683632 | RYR1 | c.9025T>A (p.Tyr3009Asn) c.9022T>A (p.Tyr3008Asn) c.2477T>A n.9108T>A | |
19 | g.38510684T>C | CA405683634 | RYR1 | c.9025T>C (p.Tyr3009His) c.9022T>C (p.Tyr3008His) c.2477T>C n.9108T>C | |
19 | g.38510684T>G | CA405683635 | RYR1 | c.9025T>G (p.Tyr3009Asp) c.9022T>G (p.Tyr3008Asp) c.2477T>G n.9108T>G | |
19 | g.38510685A>C | CA405683637 | RYR1 | c.9026A>C (p.Tyr3009Ser) c.9023A>C (p.Tyr3008Ser) c.2478A>C n.9109A>C | gnomAD v4 |
19 | g.38510685A>G | CA405683638 | RYR1 | c.9026A>G (p.Tyr3009Cys) c.9023A>G (p.Tyr3008Cys) c.2478A>G n.9109A>G | gnomAD v4 |
19 | g.38510685A>T | CA405683640 | RYR1 | c.9026A>T (p.Tyr3009Phe) c.9023A>T (p.Tyr3008Phe) c.2478A>T n.9109A>T | |
19 | g.38510686C>A | CA405683641 | RYR1 | c.9027C>A (p.Tyr3009Ter) c.9024C>A (p.Tyr3008Ter) c.2479C>A n.9110C>A | ClinVar |
19 | g.38510686C>G | CA405683643 | RYR1 | c.9027C>G (p.Tyr3009Ter) c.9024C>G (p.Tyr3008Ter) c.2479C>G n.9110C>G | |
19 | g.38510686C>T | CA507246212 | RYR1 | c.9027C>T (p.Tyr3009=) c.9024C>T (p.Tyr3008=) c.2479C>T n.9110C>T | |
19 | g.38510687T>A | CA405683644 | RYR1 | c.9028T>A (p.Phe3010Ile) c.9025T>A (p.Phe3009Ile) c.2480T>A n.9111T>A | |
19 | g.38510687T>C | CA405683646 | RYR1 | c.9028T>C (p.Phe3010Leu) c.9025T>C (p.Phe3009Leu) c.2480T>C n.9111T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38510687T>G | CA405683648 | RYR1 | c.9028T>G (p.Phe3010Val) c.9025T>G (p.Phe3009Val) c.2480T>G n.9111T>G | ClinVar gnomAD v4 |
19 | g.38510687T= | CA2335058872 | RYR1 | c.9028T= (p.Phe3010=) c.9025T= (p.Phe3009=) c.2480T= n.9111T= | |
19 | g.38510688T>A | CA405683654 | RYR1 | c.9029T>A (p.Phe3010Tyr) c.9026T>A (p.Phe3009Tyr) c.2481T>A n.9112T>A | |
19 | g.38510688T>C | CA405683652 | RYR1 | c.9029T>C (p.Phe3010Ser) c.9026T>C (p.Phe3009Ser) c.2481T>C n.9112T>C | |
19 | g.38510688T>G | CA405683650 | RYR1 | c.9029T>G (p.Phe3010Cys) c.9026T>G (p.Phe3009Cys) c.2481T>G n.9112T>G | |
19 | g.38510689C>A | CA405683655 | RYR1 | c.9030C>A (p.Phe3010Leu) c.9027C>A (p.Phe3009Leu) c.2482C>A n.9113C>A | |
19 | g.38510689C= | CA2335058873 | RYR1 | c.9030C= (p.Phe3010=) c.9027C= (p.Phe3009=) c.2482C= n.9113C= | |
19 | g.38510689C>G | CA405683656 | RYR1 | c.9030C>G (p.Phe3010Leu) c.9027C>G (p.Phe3009Leu) c.2482C>G n.9113C>G | |
19 | g.38510689C>T | CA507246213 | RYR1 | c.9030C>T (p.Phe3010=) c.9027C>T (p.Phe3009=) c.2482C>T n.9113C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38510690A= | CA2335058874 | RYR1 | c.9031A= (p.Thr3011=) c.9028A= (p.Thr3010=) c.2483A= n.9114A= | |
19 | g.38510690A>C | CA405683659 | RYR1 | c.9031A>C (p.Thr3011Pro) c.9028A>C (p.Thr3010Pro) c.2483A>C n.9114A>C | dbSNP |
19 | g.38510690A>G | CA405683660 | RYR1 | c.9031A>G (p.Thr3011Ala) c.9028A>G (p.Thr3010Ala) c.2483A>G n.9114A>G | |
19 | g.38510690A>T | CA405683662 | RYR1 | c.9031A>T (p.Thr3011Ser) c.9028A>T (p.Thr3010Ser) c.2483A>T n.9114A>T | |
19 | g.38510691C>A | CA405683664 | RYR1 | c.9032C>A (p.Thr3011Asn) c.9029C>A (p.Thr3010Asn) c.2484C>A n.9115C>A | |
19 | g.38510691C= | CA2335058875 | RYR1 | c.9032C= (p.Thr3011=) c.9029C= (p.Thr3010=) c.2484C= n.9115C= | |
19 | g.38510691C>G | CA405683666 | RYR1 | c.9032C>G (p.Thr3011Ser) c.9029C>G (p.Thr3010Ser) c.2484C>G n.9115C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38510691C>T | CA084289 | RYR1 | c.9032C>T (p.Thr3011Ile) c.9029C>T (p.Thr3010Ile) c.2484C>T n.9115C>T | dbSNP gnomAD v4 |
19 | g.38510692C>A | CA507246214 | RYR1 | c.9033C>A (p.Thr3011=) c.9030C>A (p.Thr3010=) c.2485C>A n.9116C>A | |
19 | g.38510692C>G | CA507246215 | RYR1 | c.9033C>G (p.Thr3011=) c.9030C>G (p.Thr3010=) c.2485C>G n.9116C>G | |
19 | g.38510692C>T | CA507246216 | RYR1 | c.9033C>T (p.Thr3011=) c.9030C>T (p.Thr3010=) c.2485C>T n.9116C>T | |
19 | g.38510693A>C | CA405683667 | RYR1 | c.9034A>C (p.Asn3012His) c.9031A>C (p.Asn3011His) c.2486A>C n.9117A>C | gnomAD v4 |
19 | g.38510693A>G | CA405683669 | RYR1 | c.9034A>G (p.Asn3012Asp) c.9031A>G (p.Asn3011Asp) c.2486A>G n.9117A>G | ClinVar |
19 | g.38510693A>T | CA405683671 | RYR1 | c.9034A>T (p.Asn3012Tyr) c.9031A>T (p.Asn3011Tyr) c.2486A>T n.9117A>T | |
19 | g.38510694A= | CA2335058876 | RYR1 | c.9035A= (p.Asn3012=) c.9032A= (p.Asn3011=) c.2487A= n.9118A= | |
19 | g.38510694A>C | CA405683674 | RYR1 | c.9035A>C (p.Asn3012Thr) c.9032A>C (p.Asn3011Thr) c.2487A>C n.9118A>C | |
19 | g.38510694A>G | CA073092 | RYR1 | c.9035A>G (p.Asn3012Ser) c.9032A>G (p.Asn3011Ser) c.2487A>G n.9118A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38510694A>T | CA405683677 | RYR1 | c.9035A>T (p.Asn3012Ile) c.9032A>T (p.Asn3011Ile) c.2487A>T n.9118A>T | |
19 | g.38510695C>A | CA405683679 | RYR1 | c.9036C>A (p.Asn3012Lys) c.9033C>A (p.Asn3011Lys) c.2488C>A n.9119C>A | |
19 | g.38510695C>G | CA405683681 | RYR1 | c.9036C>G (p.Asn3012Lys) c.9033C>G (p.Asn3011Lys) c.2488C>G n.9119C>G | gnomAD v4 |
19 | g.38510695C>T | CA507246217 | RYR1 | c.9036C>T (p.Asn3012=) c.9033C>T (p.Asn3011=) c.2488C>T n.9119C>T | |
19 | g.38510696C>A | CA405683682 | RYR1 | c.9037C>A (p.His3013Asn) c.9034C>A (p.His3012Asn) c.2489C>A n.9120C>A | |
19 | g.38510696C>G | CA405683684 | RYR1 | c.9037C>G (p.His3013Asp) c.9034C>G (p.His3012Asp) c.2489C>G n.9120C>G | ClinVar |
19 | g.38510696C>T | CA405683685 | RYR1 | c.9037C>T (p.His3013Tyr) c.9034C>T (p.His3012Tyr) c.2489C>T n.9120C>T | |
19 | g.38510697A>C | CA405683686 | RYR1 | c.9038A>C (p.His3013Pro) c.9035A>C (p.His3012Pro) c.2490A>C n.9121A>C | |
19 | g.38510697A>G | CA084316 | RYR1 | c.9038A>G (p.His3013Arg) c.9035A>G (p.His3012Arg) c.2490A>G n.9121A>G | |
19 | g.38510697A>T | CA405683688 | RYR1 | c.9038A>T (p.His3013Leu) c.9035A>T (p.His3012Leu) c.2490A>T n.9121A>T | |
19 | g.38510698C>A | CA405683690 | RYR1 | c.9039C>A (p.His3013Gln) c.9036C>A (p.His3012Gln) c.2491C>A n.9122C>A | |
19 | g.38510698C= | CA2335058877 | RYR1 | c.9039C= (p.His3013=) c.9036C= (p.His3012=) c.2491C= n.9122C= | |
19 | g.38510698C>G | CA405683692 | RYR1 | c.9039C>G (p.His3013Gln) c.9036C>G (p.His3012Gln) c.2491C>G n.9122C>G | |
19 | g.38510698C>T | CA507246218 | RYR1 | c.9039C>T (p.His3013=) c.9036C>T (p.His3012=) c.2491C>T n.9122C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38510699T>A | CA405683694 | RYR1 | c.9040T>A (p.Cys3014Ser) c.9037T>A (p.Cys3013Ser) c.2492T>A n.9123T>A | |
19 | g.38510699T>C | CA405683695 | RYR1 | c.9040T>C (p.Cys3014Arg) c.9037T>C (p.Cys3013Arg) c.2492T>C n.9123T>C | |
19 | g.38510699T>G | CA405683697 | RYR1 | c.9040T>G (p.Cys3014Gly) c.9037T>G (p.Cys3013Gly) c.2492T>G n.9123T>G | |
19 | g.38510700G>A | CA405683704 | RYR1 | c.9041G>A (p.Cys3014Tyr) c.9038G>A (p.Cys3013Tyr) c.2493G>A n.9124G>A | |
19 | g.38510700G>C | CA405683702 | RYR1 | c.9041G>C (p.Cys3014Ser) c.9038G>C (p.Cys3013Ser) c.2493G>C n.9124G>C | |
19 | g.38510700G>T | CA405683700 | RYR1 | c.9041G>T (p.Cys3014Phe) c.9038G>T (p.Cys3013Phe) c.2493G>T n.9124G>T | |
19 | g.38510701C>A | CA405683706 | RYR1 | c.9042C>A (p.Cys3014Ter) c.9039C>A (p.Cys3013Ter) c.2494C>A n.9125C>A | |
19 | g.38510701C>G | CA405683707 | RYR1 | c.9042C>G (p.Cys3014Trp) c.9039C>G (p.Cys3013Trp) c.2494C>G n.9125C>G | |
19 | g.38510701C>T | CA507246219 | RYR1 | c.9042C>T (p.Cys3014=) c.9039C>T (p.Cys3013=) c.2494C>T n.9125C>T | |
19 | g.38510702C>A | CA405683710 | RYR1 | c.9043C>A (p.Leu3015Ile) c.9040C>A (p.Leu3014Ile) c.2495C>A n.9126C>A | |
19 | g.38510702C>G | CA405683712 | RYR1 | c.9043C>G (p.Leu3015Val) c.9040C>G (p.Leu3014Val) c.2495C>G n.9126C>G | |
19 | g.38510702C>T | CA405683711 | RYR1 | c.9043C>T (p.Leu3015Phe) c.9040C>T (p.Leu3014Phe) c.2495C>T n.9126C>T | |
19 | g.38510703T>A | CA405683714 | RYR1 | c.9044T>A (p.Leu3015His) c.9041T>A (p.Leu3014His) c.2496T>A n.9127T>A | |
19 | g.38510703T>C | CA405683716 | RYR1 | c.9044T>C (p.Leu3015Pro) c.9041T>C (p.Leu3014Pro) c.2496T>C n.9127T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510703T>G | CA405683717 | RYR1 | c.9044T>G (p.Leu3015Arg) c.9041T>G (p.Leu3014Arg) c.2496T>G n.9127T>G | |
19 | g.38510703T= | CA2335058878 | RYR1 | c.9044T= (p.Leu3015=) c.9041T= (p.Leu3014=) c.2496T= n.9127T= | |
19 | g.38510704C>A | CA507246222 | RYR1 | c.9045C>A (p.Leu3015=) c.9042C>A (p.Leu3014=) c.2497C>A n.9128C>A | |
19 | g.38510704C>G | CA507246221 | RYR1 | c.9045C>G (p.Leu3015=) c.9042C>G (p.Leu3014=) c.2497C>G n.9128C>G | COSMIC |
19 | g.38510704C>T | CA507246220 | RYR1 | c.9045C>T (p.Leu3015=) c.9042C>T (p.Leu3014=) c.2497C>T n.9128C>T | |
19 | g.38510705T>A | CA405683719 | RYR1 | c.9046T>A (p.Tyr3016Asn) c.9043T>A (p.Tyr3015Asn) c.2498T>A n.9129T>A | |
19 | g.38510705T>C | CA073096 | RYR1 | c.9046T>C (p.Tyr3016His) c.9043T>C (p.Tyr3015His) c.2498T>C n.9129T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38510705T>G | CA405683722 | RYR1 | c.9046T>G (p.Tyr3016Asp) c.9043T>G (p.Tyr3015Asp) c.2498T>G n.9129T>G | |
19 | g.38510705T= | CA2335058879 | RYR1 | c.9046T= (p.Tyr3016=) c.9043T= (p.Tyr3015=) c.2498T= n.9129T= | |
19 | g.38510706A= | CA2335058880 | RYR1 | c.9047A= (p.Tyr3016=) c.9044A= (p.Tyr3015=) c.2499A= n.9130A= | |
19 | g.38510706A>C | CA405683725 | RYR1 | c.9047A>C (p.Tyr3016Ser) c.9044A>C (p.Tyr3015Ser) c.2499A>C n.9130A>C | |
19 | g.38510706A>G | CA405683726 | RYR1 | c.9047A>G (p.Tyr3016Cys) c.9044A>G (p.Tyr3015Cys) c.2499A>G n.9130A>G | ClinVar dbSNP |
19 | g.38510706A>T | CA405683728 | RYR1 | c.9047A>T (p.Tyr3016Phe) c.9044A>T (p.Tyr3015Phe) c.2499A>T n.9130A>T | |
19 | g.38510707T>A | CA405683730 | RYR1 | c.9048T>A (p.Tyr3016Ter) c.9045T>A (p.Tyr3015Ter) c.2500T>A n.9131T>A | |
19 | g.38510707T>C | CA507246223 | RYR1 | c.9048T>C (p.Tyr3016=) c.9045T>C (p.Tyr3015=) c.2500T>C n.9131T>C | |
19 | g.38510707T>G | CA405683732 | RYR1 | c.9048T>G (p.Tyr3016Ter) c.9045T>G (p.Tyr3015Ter) c.2500T>G n.9131T>G | |
19 | g.38510708T>A | CA405683737 | RYR1 | c.9049T>A (p.Phe3017Ile) c.9046T>A (p.Phe3016Ile) c.2501T>A n.9132T>A | |
19 | g.38510708T>C | CA084318 | RYR1 | c.9049T>C (p.Phe3017Leu) c.9046T>C (p.Phe3016Leu) c.2501T>C n.9132T>C | |
19 | g.38510708T>G | CA405683734 | RYR1 | c.9049T>G (p.Phe3017Val) c.9046T>G (p.Phe3016Val) c.2501T>G n.9132T>G | |
19 | g.38510709T>A | CA405683738 | RYR1 | c.9050T>A (p.Phe3017Tyr) c.9047T>A (p.Phe3016Tyr) c.2502T>A n.9133T>A | |
19 | g.38510709T>C | CA405683739 | RYR1 | c.9050T>C (p.Phe3017Ser) c.9047T>C (p.Phe3016Ser) c.2502T>C n.9133T>C | |
19 | g.38510709T>G | CA405683741 | RYR1 | c.9050T>G (p.Phe3017Cys) c.9047T>G (p.Phe3016Cys) c.2502T>G n.9133T>G | |
19 | g.38510710C>A | CA405683744 | RYR1 | c.9051C>A (p.Phe3017Leu) c.9048C>A (p.Phe3016Leu) c.2503C>A n.9134C>A | gnomAD v4 COSMIC |
19 | g.38510710C= | CA2335058881 | RYR1 | c.9051C= (p.Phe3017=) c.9048C= (p.Phe3016=) c.2503C= n.9134C= | |
19 | g.38510710C>G | CA405683745 | RYR1 | c.9051C>G (p.Phe3017Leu) c.9048C>G (p.Phe3016Leu) c.2503C>G n.9134C>G | |
19 | g.38510710C>T | CA507246224 | RYR1 | c.9051C>T (p.Phe3017=) c.9048C>T (p.Phe3016=) c.2503C>T n.9134C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38510711T>A | CA405683748 | RYR1 | c.9052T>A (p.Leu3018Met) c.9049T>A (p.Leu3017Met) c.2504T>A n.9135T>A | |
19 | g.38510711T>C | CA507246226 | RYR1 | c.9052T>C (p.Leu3018=) c.9049T>C (p.Leu3017=) c.2504T>C n.9135T>C | ClinVar dbSNP |
19 | g.38510711T>G | CA405683750 | RYR1 | c.9052T>G (p.Leu3018Val) c.9049T>G (p.Leu3017Val) c.2504T>G n.9135T>G | |
19 | g.38510711T= | CA2335058882 | RYR1 | c.9052T= (p.Leu3018=) c.9049T= (p.Leu3017=) c.2504T= n.9135T= | |
19 | g.38510712T>A | CA405683752 | RYR1 | c.9053T>A (p.Leu3018Ter) c.9050T>A (p.Leu3017Ter) c.2505T>A n.9136T>A | |
19 | g.38510712T>C | CA405683754 | RYR1 | c.9053T>C (p.Leu3018Ser) c.9050T>C (p.Leu3017Ser) c.2505T>C n.9136T>C | |
19 | g.38510712T>G | CA405683757 | RYR1 | c.9053T>G (p.Leu3018Trp) c.9050T>G (p.Leu3017Trp) c.2505T>G n.9136T>G | |
19 | g.38510713G>A | CA507246227 | RYR1 | c.9054G>A (p.Leu3018=) c.9051G>A (p.Leu3017=) c.2506G>A n.9137G>A | |
19 | g.38510713G>C | CA405683759 | RYR1 | c.9054G>C (p.Leu3018Phe) c.9051G>C (p.Leu3017Phe) c.2506G>C n.9137G>C | |
19 | g.38510713G>T | CA405683761 | RYR1 | c.9054G>T (p.Leu3018Phe) c.9051G>T (p.Leu3017Phe) c.2506G>T n.9137G>T | |
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 |