Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38502880G>A | CA024866 | RYR1 | c.7836G>A (p.Arg2612=) c.7833G>A (p.Arg2611=) c.1288G>A n.7919G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502880G>C | CA405673484 | RYR1 | c.7836G>C (p.Arg2612Ser) c.7833G>C (p.Arg2611Ser) c.1288G>C n.7919G>C | |
19 | g.38502880G= | CA2335054795 | RYR1 | c.7836G= (p.Arg2612=) c.7833G= (p.Arg2611=) c.1288G= n.7919G= | |
19 | g.38502880G>T | CA070796 | RYR1 | c.7836G>T (p.Arg2612Ser) c.7833G>T (p.Arg2611Ser) c.1288G>T n.7919G>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.38502881T>A | CA405673497 | RYR1 | c.7837T>A (p.Tyr2613Asn) c.7834T>A (p.Tyr2612Asn) c.1289T>A n.7920T>A | gnomAD v4 |
19 | g.38502881T>C | CA405673493 | RYR1 | c.7837T>C (p.Tyr2613His) c.7834T>C (p.Tyr2612His) c.1289T>C n.7920T>C | gnomAD v4 |
19 | g.38502881T>G | CA405673491 | RYR1 | c.7837T>G (p.Tyr2613Asp) c.7834T>G (p.Tyr2612Asp) c.1289T>G n.7920T>G | dbSNP |
19 | g.38502882A= | CA2335054796 | RYR1 | c.7838A= (p.Tyr2613=) c.7835A= (p.Tyr2612=) c.1290A= n.7921A= | |
19 | g.38502882A>C | CA070800 | RYR1 | c.7838A>C (p.Tyr2613Ser) c.7835A>C (p.Tyr2612Ser) c.1290A>C n.7921A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502882A>G | CA405673509 | RYR1 | c.7838A>G (p.Tyr2613Cys) c.7835A>G (p.Tyr2612Cys) c.1290A>G n.7921A>G | dbSNP COSMIC |
19 | g.38502882A>T | CA405673511 | RYR1 | c.7838A>T (p.Tyr2613Phe) c.7835A>T (p.Tyr2612Phe) c.1290A>T n.7921A>T | |
19 | g.38502883C>A | CA405673513 | RYR1 | c.7839C>A (p.Tyr2613Ter) c.7836C>A (p.Tyr2612Ter) c.1291C>A n.7922C>A | dbSNP |
19 | g.38502883C= | CA2335054797 | RYR1 | c.7839C= (p.Tyr2613=) c.7836C= (p.Tyr2612=) c.1291C= n.7922C= | |
19 | g.38502883C>G | CA405673515 | RYR1 | c.7839C>G (p.Tyr2613Ter) c.7836C>G (p.Tyr2612Ter) c.1291C>G n.7922C>G | |
19 | g.38502883C>T | CA070806 | RYR1 | c.7839C>T (p.Tyr2613=) c.7836C>T (p.Tyr2612=) c.1291C>T n.7922C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502884A= | CA2335054798 | RYR1 | c.7840A= (p.Ile2614=) c.7837A= (p.Ile2613=) c.1292A= n.7923A= | |
19 | g.38502884A>C | CA405673518 | RYR1 | c.7840A>C (p.Ile2614Leu) c.7837A>C (p.Ile2613Leu) c.1292A>C n.7923A>C | |
19 | g.38502884A>G | CA405673521 | RYR1 | c.7840A>G (p.Ile2614Val) c.7837A>G (p.Ile2613Val) c.1292A>G n.7923A>G | dbSNP |
19 | g.38502884A>T | CA405673523 | RYR1 | c.7840A>T (p.Ile2614Phe) c.7837A>T (p.Ile2613Phe) c.1292A>T n.7923A>T | |
19 | g.38502884_38502885insGGGGC | CA082719 | RYR1 | c.7840_7841insGGGGC (p.Ile2614ArgfsTer?) c.7837_7838insGGGGC (p.Ile2613ArgfsTer?) c.1292_1293insGGGGC n.7923_7924insGGGGC | |
19 | g.38502885T>A | CA405673525 | RYR1 | c.7841T>A (p.Ile2614Asn) c.7838T>A (p.Ile2613Asn) c.1293T>A n.7924T>A | ClinVar dbSNP gnomAD v4 |
19 | g.38502885T>C | CA405673527 | RYR1 | c.7841T>C (p.Ile2614Thr) c.7838T>C (p.Ile2613Thr) c.1293T>C n.7924T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502885T>G | CA405673529 | RYR1 | c.7841T>G (p.Ile2614Ser) c.7838T>G (p.Ile2613Ser) c.1293T>G n.7924T>G | gnomAD v4 |
19 | g.38502885T= | CA2335054799 | RYR1 | c.7841T= (p.Ile2614=) c.7838T= (p.Ile2613=) c.1293T= n.7924T= | |
19 | g.38502886C>A | CA507354024 | RYR1 | c.7842C>A (p.Ile2614=) c.7839C>A (p.Ile2613=) c.1294C>A n.7925C>A | |
19 | g.38502886C= | CA2335054800 | RYR1 | c.7842C= (p.Ile2614=) c.7839C= (p.Ile2613=) c.1294C= n.7925C= | |
19 | g.38502886C>G | CA405673531 | RYR1 | c.7842C>G (p.Ile2614Met) c.7839C>G (p.Ile2613Met) c.1294C>G n.7925C>G | ClinVar gnomAD v4 |
19 | g.38502886C>T | CA070814 | RYR1 | c.7842C>T (p.Ile2614=) c.7839C>T (p.Ile2613=) c.1294C>T n.7925C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502886_38502887delinsAA | CA082762 | RYR1 | c.7842_7843delinsAA (p.Arg2615Ser) c.7839_7840delinsAA (p.Arg2614Ser) c.1294_1295delinsAA n.7925_7926delinsAA | |
19 | g.38502887C>A | CA405673540 | RYR1 | c.7843C>A (p.Arg2615Ser) c.7840C>A (p.Arg2614Ser) c.1295C>A n.7926C>A | gnomAD v4 |
19 | g.38502887C= | CA2335054801 | RYR1 | c.7843C= (p.Arg2615=) c.7840C= (p.Arg2614=) c.1295C= n.7926C= | |
19 | g.38502887C>G | CA405673541 | RYR1 | c.7843C>G (p.Arg2615Gly) c.7840C>G (p.Arg2614Gly) c.1295C>G n.7926C>G | ClinVar gnomAD v4 |
19 | g.38502887C>T | CA405673535 | RYR1 | c.7843C>T (p.Arg2615Cys) c.7840C>T (p.Arg2614Cys) c.1295C>T n.7926C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502888G>A | CA070820 | RYR1 | c.7844G>A (p.Arg2615His) c.7841G>A (p.Arg2614His) c.1296G>A n.7927G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502888G>C | CA405673546 | RYR1 | c.7844G>C (p.Arg2615Pro) c.7841G>C (p.Arg2614Pro) c.1296G>C n.7927G>C | gnomAD v4 |
19 | g.38502888G= | CA2335054802 | RYR1 | c.7844G= (p.Arg2615=) c.7841G= (p.Arg2614=) c.1296G= n.7927G= | |
19 | g.38502888G>T | CA405673547 | RYR1 | c.7844G>T (p.Arg2615Leu) c.7841G>T (p.Arg2614Leu) c.1296G>T n.7927G>T | gnomAD v4 |
19 | g.38502888_38502889delinsGC | CA2335054803 | RYR1 | c.7844_7845delinsGC (p.Arg2615=) c.7841_7842delinsGC (p.Arg2614=) c.1296_1297delinsGC n.7927_7928delinsGC | |
19 | g.38502889C>A | CA507354030 | RYR1 | c.7845C>A (p.Arg2615=) c.7842C>A (p.Arg2614=) c.1297C>A n.7928C>A | |
19 | g.38502889C= | CA2335054804 | RYR1 | c.7845C= (p.Arg2615=) c.7842C= (p.Arg2614=) c.1297C= n.7928C= | |
19 | g.38502889C>G | CA082767 | RYR1 | c.7845C>G (p.Arg2615=) c.7842C>G (p.Arg2614=) c.1297C>G n.7928C>G | ClinVar gnomAD v4 |
19 | g.38502889C>T | CA082769 | RYR1 | c.7845C>T (p.Arg2615=) c.7842C>T (p.Arg2614=) c.1297C>T n.7928C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502891del | CA1139666424 | RYR1 | c.7847del (p.Pro2616ArgfsTer?) c.7844del (p.Pro2615ArgfsTer?) c.1299del n.7930del | ClinVar dbSNP |
19 | g.38502890C>A | CA405673550 | RYR1 | c.7846C>A (p.Pro2616Thr) c.7843C>A (p.Pro2615Thr) c.1298C>A n.7929C>A | gnomAD v4 |
19 | g.38502890C>G | CA405673553 | RYR1 | c.7846C>G (p.Pro2616Ala) c.7843C>G (p.Pro2615Ala) c.1298C>G n.7929C>G | |
19 | g.38502890C>T | CA405673565 | RYR1 | c.7846C>T (p.Pro2616Ser) c.7843C>T (p.Pro2615Ser) c.1298C>T n.7929C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38502891C>A | CA405673574 | RYR1 | c.7847C>A (p.Pro2616Gln) c.7844C>A (p.Pro2615Gln) c.1299C>A n.7930C>A | |
19 | g.38502891C= | CA2335054805 | RYR1 | c.7847C= (p.Pro2616=) c.7844C= (p.Pro2615=) c.1299C= n.7930C= | |
19 | g.38502891C>G | CA405673568 | RYR1 | c.7847C>G (p.Pro2616Arg) c.7844C>G (p.Pro2615Arg) c.1299C>G n.7930C>G | ClinVar dbSNP |
19 | g.38502891C>T | CA405673570 | RYR1 | c.7847C>T (p.Pro2616Leu) c.7844C>T (p.Pro2615Leu) c.1299C>T n.7930C>T | COSMIC |
19 | g.38502892G>A | CA070828 | RYR1 | c.7848G>A (p.Pro2616=) c.7845G>A (p.Pro2615=) c.1300G>A n.7931G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502892G>C | CA308113326 | RYR1 | c.7848G>C (p.Pro2616=) c.7845G>C (p.Pro2615=) c.1300G>C n.7931G>C | ClinVar dbSNP gnomAD v4 |
19 | g.38502892G= | CA2335054806 | RYR1 | c.7848G= (p.Pro2616=) c.7845G= (p.Pro2615=) c.1300G= n.7931G= | |
19 | g.38502892G>T | CA507354034 | RYR1 | c.7848G>T (p.Pro2616=) c.7845G>T (p.Pro2615=) c.1300G>T n.7931G>T | ClinVar dbSNP gnomAD v4 |
19 | g.38502893T>A | CA405673580 | RYR1 | c.7849T>A (p.Ser2617Thr) c.7846T>A (p.Ser2616Thr) c.1301T>A n.7932T>A | |
19 | g.38502893T>C | CA405673583 | RYR1 | c.7849T>C (p.Ser2617Pro) c.7846T>C (p.Ser2616Pro) c.1301T>C n.7932T>C | gnomAD v4 |
19 | g.38502893T>G | CA405673586 | RYR1 | c.7849T>G (p.Ser2617Ala) c.7846T>G (p.Ser2616Ala) c.1301T>G n.7932T>G | |
19 | g.38502894C>A | CA405673588 | RYR1 | c.7850C>A (p.Ser2617Ter) c.7847C>A (p.Ser2616Ter) c.1302C>A n.7933C>A | ClinVar dbSNP |
19 | g.38502894C= | CA2335054807 | RYR1 | c.7850C= (p.Ser2617=) c.7847C= (p.Ser2616=) c.1302C= n.7933C= | |
19 | g.38502894C>G | CA082684 | RYR1 | c.7850C>G (p.Ser2617Trp) c.7847C>G (p.Ser2616Trp) c.1302C>G n.7933C>G | ClinVar |
19 | g.38502894C>T | CA070831 | RYR1 | c.7850C>T (p.Ser2617Leu) c.7847C>T (p.Ser2616Leu) c.1302C>T n.7933C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502895G>A | CA070838 | RYR1 | c.7851G>A (p.Ser2617=) c.7848G>A (p.Ser2616=) c.1303G>A n.7934G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502895G>C | CA507354036 | RYR1 | c.7851G>C (p.Ser2617=) c.7848G>C (p.Ser2616=) c.1303G>C n.7934G>C | gnomAD v4 |
19 | g.38502895G= | CA2335054808 | RYR1 | c.7851G= (p.Ser2617=) c.7848G= (p.Ser2616=) c.1303G= n.7934G= | |
19 | g.38502895G>T | CA507354037 | RYR1 | c.7851G>T (p.Ser2617=) c.7848G>T (p.Ser2616=) c.1303G>T n.7934G>T | ClinVar dbSNP gnomAD v4 |
19 | g.38502896A= | CA2335054809 | RYR1 | c.7852A= (p.Met2618=) c.7849A= (p.Met2617=) c.1304A= n.7935A= | |
19 | g.38502896A>C | CA405673605 | RYR1 | c.7852A>C (p.Met2618Leu) c.7849A>C (p.Met2617Leu) c.1304A>C n.7935A>C | gnomAD v4 |
19 | g.38502896A>G | CA405673611 | RYR1 | c.7852A>G (p.Met2618Val) c.7849A>G (p.Met2617Val) c.1304A>G n.7935A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502896A>T | CA405673614 | RYR1 | c.7852A>T (p.Met2618Leu) c.7849A>T (p.Met2617Leu) c.1304A>T n.7935A>T | |
19 | g.38502897T>A | CA405673629 | RYR1 | c.7853T>A (p.Met2618Lys) c.7850T>A (p.Met2617Lys) c.1305T>A n.7936T>A | gnomAD v4 |
19 | g.38502897T>C | CA070844 | RYR1 | c.7853T>C (p.Met2618Thr) c.7850T>C (p.Met2617Thr) c.1305T>C n.7936T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502897T>G | CA405673638 | RYR1 | c.7853T>G (p.Met2618Arg) c.7850T>G (p.Met2617Arg) c.1305T>G n.7936T>G | ClinVar gnomAD v4 |
19 | g.38502897T= | CA2335054810 | RYR1 | c.7853T= (p.Met2618=) c.7850T= (p.Met2617=) c.1305T= n.7936T= | |
19 | g.38502898G>A | CA070853 | RYR1 | c.7854G>A (p.Met2618Ile) c.7851G>A (p.Met2617Ile) c.1306G>A n.7937G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502898G>C | CA405673645 | RYR1 | c.7854G>C (p.Met2618Ile) c.7851G>C (p.Met2617Ile) c.1306G>C n.7937G>C | |
19 | g.38502898G= | CA2335054811 | RYR1 | c.7854G= (p.Met2618=) c.7851G= (p.Met2617=) c.1306G= n.7937G= | |
19 | g.38502898G>T | CA405673648 | RYR1 | c.7854G>T (p.Met2618Ile) c.7851G>T (p.Met2617Ile) c.1306G>T n.7937G>T | gnomAD v4 |
19 | g.38502899del | CA2584901126 | RYR1 | c.7855del (p.Leu2619CysfsTer?) c.7852del (p.Leu2618CysfsTer?) c.1307del n.7938del | ClinVar gnomAD v4 |
19 | g.38502899C>A | CA405673651 | RYR1 | c.7855C>A (p.Leu2619Met) c.7852C>A (p.Leu2618Met) c.1307C>A n.7938C>A | |
19 | g.38502899C= | CA2335054812 | RYR1 | c.7855C= (p.Leu2619=) c.7852C= (p.Leu2618=) c.1307C= n.7938C= | |
19 | g.38502899C>G | CA405673653 | RYR1 | c.7855C>G (p.Leu2619Val) c.7852C>G (p.Leu2618Val) c.1307C>G n.7938C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502899C>T | CA070859 | RYR1 | c.7855C>T (p.Leu2619=) c.7852C>T (p.Leu2618=) c.1307C>T n.7938C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502900T>A | CA405673656 | RYR1 | c.7856T>A (p.Leu2619Gln) c.7853T>A (p.Leu2618Gln) c.1308T>A n.7939T>A | dbSNP gnomAD v2 |
19 | g.38502900T>C | CA082875 | RYR1 | c.7856T>C (p.Leu2619Pro) c.7853T>C (p.Leu2618Pro) c.1308T>C n.7939T>C | ClinVar dbSNP |
19 | g.38502900T>G | CA405673657 | RYR1 | c.7856T>G (p.Leu2619Arg) c.7853T>G (p.Leu2618Arg) c.1308T>G n.7939T>G | |
19 | g.38502900T= | CA2335054813 | RYR1 | c.7856T= (p.Leu2619=) c.7853T= (p.Leu2618=) c.1308T= n.7939T= | |
19 | g.38502901_38502902insAGGGTG | CA082695 | RYR1 | c.7857_7858insAGGGTG (p.Leu2619_Gln2620insArgVal) c.7854_7855insAGGGTG (p.Leu2618_Gln2619insArgVal) c.1309_1310insAGGGTG n.7940_7941insAGGGTG | |
19 | g.38502901G>A | CA070866 | RYR1 | c.7857G>A (p.Leu2619=) c.7854G>A (p.Leu2618=) c.1309G>A n.7940G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502901G>C | CA507354040 | RYR1 | c.7857G>C (p.Leu2619=) c.7854G>C (p.Leu2618=) c.1309G>C n.7940G>C | ClinVar dbSNP gnomAD v4 |
19 | g.38502901G= | CA2335054814 | RYR1 | c.7857G= (p.Leu2619=) c.7854G= (p.Leu2618=) c.1309G= n.7940G= | |
19 | g.38502901G>T | CA507354039 | RYR1 | c.7857G>T (p.Leu2619=) c.7854G>T (p.Leu2618=) c.1309G>T n.7940G>T | gnomAD v4 |
19 | g.38502902C>A | CA405673663 | RYR1 | c.7858C>A (p.Gln2620Lys) c.7855C>A (p.Gln2619Lys) c.1310C>A n.7941C>A | dbSNP |
19 | g.38502902C= | CA2335054815 | RYR1 | c.7858C= (p.Gln2620=) c.7855C= (p.Gln2619=) c.1310C= n.7941C= | |
19 | g.38502902C>G | CA405673659 | RYR1 | c.7858C>G (p.Gln2620Glu) c.7855C>G (p.Gln2619Glu) c.1310C>G n.7941C>G | gnomAD v4 |
19 | g.38502902C>T | CA082877 | RYR1 | c.7858C>T (p.Gln2620Ter) c.7855C>T (p.Gln2619Ter) c.1310C>T n.7941C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502903A= | CA2335054816 | RYR1 | c.7859A= (p.Gln2620=) c.7856A= (p.Gln2619=) c.1311A= n.7942A= | |
19 | g.38502903A>C | CA405673674 | RYR1 | c.7859A>C (p.Gln2620Pro) c.7856A>C (p.Gln2619Pro) c.1311A>C n.7942A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502903A>G | CA405673676 | RYR1 | c.7859A>G (p.Gln2620Arg) c.7856A>G (p.Gln2619Arg) c.1311A>G n.7942A>G | |
19 | g.38502903A>T | CA405673680 | RYR1 | c.7859A>T (p.Gln2620Leu) c.7856A>T (p.Gln2619Leu) c.1311A>T n.7942A>T | |
19 | g.38502904G>A | CA070869 | RYR1 | c.7860G>A (p.Gln2620=) c.7857G>A (p.Gln2619=) c.1312G>A n.7943G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502904G>C | CA405673688 | RYR1 | c.7860G>C (p.Gln2620His) c.7857G>C (p.Gln2619His) c.1312G>C n.7943G>C | |
19 | g.38502904G= | CA2335054817 | RYR1 | c.7860G= (p.Gln2620=) c.7857G= (p.Gln2619=) c.1312G= n.7943G= | |
19 | g.38502904G>T | CA405673689 | RYR1 | c.7860G>T (p.Gln2620His) c.7857G>T (p.Gln2619His) c.1312G>T n.7943G>T | |
19 | g.38502905C>A | CA405673691 | RYR1 | c.7861C>A (p.His2621Asn) c.7858C>A (p.His2620Asn) c.1313C>A n.7944C>A | |
19 | g.38502905C= | CA2335054818 | RYR1 | c.7861C= (p.His2621=) c.7858C= (p.His2620=) c.1313C= n.7944C= | |
19 | g.38502905C>G | CA405673693 | RYR1 | c.7861C>G (p.His2621Asp) c.7858C>G (p.His2620Asp) c.1313C>G n.7944C>G | |
19 | g.38502905C>T | CA070877 | RYR1 | c.7861C>T (p.His2621Tyr) c.7858C>T (p.His2620Tyr) c.1313C>T n.7944C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502906A= | CA2335054819 | RYR1 | c.7862A= (p.His2621=) c.7859A= (p.His2620=) c.1314A= n.7945A= | |
19 | g.38502906A>C | CA405673706 | RYR1 | c.7862A>C (p.His2621Pro) c.7859A>C (p.His2620Pro) c.1314A>C n.7945A>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502906A>G | CA405673700 | RYR1 | c.7862A>G (p.His2621Arg) c.7859A>G (p.His2620Arg) c.1314A>G n.7945A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502906A>T | CA405673703 | RYR1 | c.7862A>T (p.His2621Leu) c.7859A>T (p.His2620Leu) c.1314A>T n.7945A>T | |
19 | g.38502907C>A | CA405673709 | RYR1 | c.7863C>A (p.His2621Gln) c.7860C>A (p.His2620Gln) c.1315C>A n.7946C>A | |
19 | g.38502907C= | CA2335054820 | RYR1 | c.7863C= (p.His2621=) c.7860C= (p.His2620=) c.1315C= n.7946C= | |
19 | g.38502907C>G | CA405673729 | RYR1 | c.7863C>G (p.His2621Gln) c.7860C>G (p.His2620Gln) c.1315C>G n.7946C>G | ClinVar dbSNP gnomAD v4 |
19 | g.38502907C>T | CA024868 | RYR1 | c.7863C>T (p.His2621=) c.7860C>T (p.His2620=) c.1315C>T n.7946C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502907_38502908delinsCC | CA2335054821 | RYR1 | c.7863_7864delinsCC (p.His2621=) c.7860_7861delinsCC (p.His2620=) c.1315_1316delinsCC n.7946_7947delinsCC | |
19 | g.38502907_38502908delinsTT | CA915952999 | RYR1 | c.7863_7864delinsTT (p.His2621=) c.7860_7861delinsTT (p.His2620=) c.1315_1316delinsTT n.7946_7947delinsTT | ClinVar dbSNP |
19 | g.38502908C>A | CA405673732 | RYR1 | c.7864C>A (p.Leu2622Met) c.7861C>A (p.Leu2621Met) c.1316C>A n.7947C>A | |
19 | g.38502908C= | CA2335054822 | RYR1 | c.7864C= (p.Leu2622=) c.7861C= (p.Leu2621=) c.1316C= n.7947C= | |
19 | g.38502908C>G | CA405673733 | RYR1 | c.7864C>G (p.Leu2622Val) c.7861C>G (p.Leu2621Val) c.1316C>G n.7947C>G | ClinVar gnomAD v4 |
19 | g.38502908C>T | CA082716 | RYR1 | c.7864C>T (p.Leu2622=) c.7861C>T (p.Leu2621=) c.1316C>T n.7947C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502909T>A | CA405673738 | RYR1 | c.7865T>A (p.Leu2622Gln) c.7862T>A (p.Leu2621Gln) c.1317T>A n.7948T>A | |
19 | g.38502909T>C | CA405673741 | RYR1 | c.7865T>C (p.Leu2622Pro) c.7862T>C (p.Leu2621Pro) c.1317T>C n.7948T>C | gnomAD v4 |
19 | g.38502909T>G | CA405673744 | RYR1 | c.7865T>G (p.Leu2622Arg) c.7862T>G (p.Leu2621Arg) c.1317T>G n.7948T>G | |
19 | g.38502911_38502913del | CA082721 | RYR1 | c.7867_7869del (p.Leu2623del) c.7864_7866del (p.Leu2622del) c.1319_1321del n.7950_7952del | |
19 | g.38502910G>A | CA507354045 | RYR1 | c.7866G>A (p.Leu2622=) c.7863G>A (p.Leu2621=) c.1318G>A n.7949G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38502910G>C | CA507354046 | RYR1 | c.7866G>C (p.Leu2622=) c.7863G>C (p.Leu2621=) c.1318G>C n.7949G>C | ClinVar dbSNP |
19 | g.38502910G= | CA2335054823 | RYR1 | c.7866G= (p.Leu2622=) c.7863G= (p.Leu2621=) c.1318G= n.7949G= | |
19 | g.38502910G>T | CA507354047 | RYR1 | c.7866G>T (p.Leu2622=) c.7863G>T (p.Leu2621=) c.1318G>T n.7949G>T | ClinVar gnomAD v4 |
19 | g.38502911T>A | CA405673746 | RYR1 | c.7867T>A (p.Leu2623Met) c.7864T>A (p.Leu2622Met) c.1319T>A n.7950T>A | gnomAD v4 |
19 | g.38502911T>C | CA507354048 | RYR1 | c.7867T>C (p.Leu2623=) c.7864T>C (p.Leu2622=) c.1319T>C n.7950T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502911T>G | CA405673749 | RYR1 | c.7867T>G (p.Leu2623Val) c.7864T>G (p.Leu2622Val) c.1319T>G n.7950T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502911T= | CA2335054824 | RYR1 | c.7867T= (p.Leu2623=) c.7864T= (p.Leu2622=) c.1319T= n.7950T= | |
19 | g.38502912T>A | CA405673754 | RYR1 | c.7868T>A (p.Leu2623Ter) c.7865T>A (p.Leu2622Ter) c.1320T>A n.7951T>A | |
19 | g.38502912T>C | CA405673759 | RYR1 | c.7868T>C (p.Leu2623Ser) c.7865T>C (p.Leu2622Ser) c.1320T>C n.7951T>C | |
19 | g.38502912T>G | CA405673751 | RYR1 | c.7868T>G (p.Leu2623Trp) c.7865T>G (p.Leu2622Trp) c.1320T>G n.7951T>G | |
19 | g.38502913G>A | CA070899 | RYR1 | c.7869G>A (p.Leu2623=) c.7866G>A (p.Leu2622=) c.1321G>A n.7952G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502913G>C | CA405673763 | RYR1 | c.7869G>C (p.Leu2623Phe) c.7866G>C (p.Leu2622Phe) c.1321G>C n.7952G>C | ClinVar gnomAD v4 |
19 | g.38502913G= | CA2335054825 | RYR1 | c.7869G= (p.Leu2623=) c.7866G= (p.Leu2622=) c.1321G= n.7952G= | |
19 | g.38502913G>T | CA405673776 | RYR1 | c.7869G>T (p.Leu2623Phe) c.7866G>T (p.Leu2622Phe) c.1321G>T n.7952G>T | gnomAD v4 |
19 | g.38502914C>A | CA405673782 | RYR1 | c.7870C>A (p.Arg2624Ser) c.7867C>A (p.Arg2623Ser) c.1322C>A n.7953C>A | |
19 | g.38502914C= | CA2335054826 | RYR1 | c.7870C= (p.Arg2624=) c.7867C= (p.Arg2623=) c.1322C= n.7953C= | |
19 | g.38502914C>G | CA405673790 | RYR1 | c.7870C>G (p.Arg2624Gly) c.7867C>G (p.Arg2623Gly) c.1322C>G n.7953C>G | gnomAD v4 |
19 | g.38502914C>T | CA082728 | RYR1 | c.7870C>T (p.Arg2624Cys) c.7867C>T (p.Arg2623Cys) c.1322C>T n.7953C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502918_38502955del | CA082731 | RYR1 | c.7874_7911del (p.Arg2625GlnfsTer12) c.7871_7908del (p.Arg2624GlnfsTer12) c.1326_1363del n.7957_7994del | |
19 | g.38502915G>A | CA405673794 | RYR1 | c.7871G>A (p.Arg2624His) c.7868G>A (p.Arg2623His) c.1323G>A n.7954G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502915G>C | CA405673797 | RYR1 | c.7871G>C (p.Arg2624Pro) c.7868G>C (p.Arg2623Pro) c.1323G>C n.7954G>C | ClinVar gnomAD v4 |
19 | g.38502915G= | CA2335054827 | RYR1 | c.7871G= (p.Arg2624=) c.7868G= (p.Arg2623=) c.1323G= n.7954G= | |
19 | g.38502915G>T | CA405673799 | RYR1 | c.7871G>T (p.Arg2624Leu) c.7868G>T (p.Arg2623Leu) c.1323G>T n.7954G>T | gnomAD v4 |
19 | g.38502916C>A | CA070913 | RYR1 | c.7872C>A (p.Arg2624=) c.7869C>A (p.Arg2623=) c.1324C>A n.7955C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502916C= | CA2335054828 | RYR1 | c.7872C= (p.Arg2624=) c.7869C= (p.Arg2623=) c.1324C= n.7955C= | |
19 | g.38502916C>G | CA308113415 | RYR1 | c.7872C>G (p.Arg2624=) c.7869C>G (p.Arg2623=) c.1324C>G n.7955C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502916C>T | CA024870 | RYR1 | c.7872C>T (p.Arg2624=) c.7869C>T (p.Arg2623=) c.1324C>T n.7955C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502916_38502917delinsTT | CA2573156352 | RYR1 | c.7872_7873delinsTT (p.Arg2625Cys) c.7869_7870delinsTT (p.Arg2624Cys) c.1324_1325delinsTT n.7955_7956delinsTT | ClinVar dbSNP |
19 | g.38502917C>A | CA405673804 | RYR1 | c.7873C>A (p.Arg2625Ser) c.7870C>A (p.Arg2624Ser) c.1325C>A n.7956C>A | |
19 | g.38502917C= | CA2335054829 | RYR1 | c.7873C= (p.Arg2625=) c.7870C= (p.Arg2624=) c.1325C= n.7956C= | |
19 | g.38502917C>G | CA405673801 | RYR1 | c.7873C>G (p.Arg2625Gly) c.7870C>G (p.Arg2624Gly) c.1325C>G n.7956C>G | |
19 | g.38502917C>T | CA070926 | RYR1 | c.7873C>T (p.Arg2625Cys) c.7870C>T (p.Arg2624Cys) c.1325C>T n.7956C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502918G>A | CA070928 | RYR1 | c.7874G>A (p.Arg2625His) c.7871G>A (p.Arg2624His) c.1326G>A n.7957G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502918G>C | CA405673814 | RYR1 | c.7874G>C (p.Arg2625Pro) c.7871G>C (p.Arg2624Pro) c.1326G>C n.7957G>C | ClinVar dbSNP |
19 | g.38502918G= | CA2335054830 | RYR1 | c.7874G= (p.Arg2625=) c.7871G= (p.Arg2624=) c.1326G= n.7957G= | |
19 | g.38502918G>T | CA070934 | RYR1 | c.7874G>T (p.Arg2625Leu) c.7871G>T (p.Arg2624Leu) c.1326G>T n.7957G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502918_38502926delinsA | CA082738 | RYR1 | c.7874_7882delinsA (p.Arg2625HisfsTer22) c.7871_7879delinsA (p.Arg2624HisfsTer22) c.1326_1334delinsA n.7957_7965delinsA | |
19 | g.38502919C>A | CA082891 | RYR1 | c.7875C>A (p.Arg2625=) c.7872C>A (p.Arg2624=) c.1327C>A n.7958C>A | gnomAD v4 |
19 | g.38502919C= | CA2335054831 | RYR1 | c.7875C= (p.Arg2625=) c.7872C= (p.Arg2624=) c.1327C= n.7958C= | |
19 | g.38502919C>G | CA070940 | RYR1 | c.7875C>G (p.Arg2625=) c.7872C>G (p.Arg2624=) c.1327C>G n.7958C>G | dbSNP ExAC gnomAD v4 |
19 | g.38502919C>T | CA070942 | RYR1 | c.7875C>T (p.Arg2625=) c.7872C>T (p.Arg2624=) c.1327C>T n.7958C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502920C>A | CA405673819 | RYR1 | c.7876C>A (p.Leu2626Met) c.7873C>A (p.Leu2625Met) c.1328C>A n.7959C>A | gnomAD v4 |
19 | g.38502920C= | CA2335054832 | RYR1 | c.7876C= (p.Leu2626=) c.7873C= (p.Leu2625=) c.1328C= n.7959C= | |
19 | g.38502920C>G | CA070948 | RYR1 | c.7876C>G (p.Leu2626Val) c.7873C>G (p.Leu2625Val) c.1328C>G n.7959C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502920C>T | CA070955 | RYR1 | c.7876C>T (p.Leu2626=) c.7873C>T (p.Leu2625=) c.1328C>T n.7959C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502920_38502923delinsAGGC | CA082745 | RYR1 | c.7876_7879delinsAGGC (p.Leu2626_Val2627delinsArgLeu) c.7873_7876delinsAGGC (p.Leu2625_Val2626delinsArgLeu) c.1328_1331delinsAGGC n.7959_7962delinsAGGC | |
19 | g.38502921T>A | CA405673834 | RYR1 | c.7877T>A (p.Leu2626Gln) c.7874T>A (p.Leu2625Gln) c.1329T>A n.7960T>A | dbSNP |
19 | g.38502921T>C | CA405673837 | RYR1 | c.7877T>C (p.Leu2626Pro) c.7874T>C (p.Leu2625Pro) c.1329T>C n.7960T>C | |
19 | g.38502921T>G | CA070956 | RYR1 | c.7877T>G (p.Leu2626Arg) c.7874T>G (p.Leu2625Arg) c.1329T>G n.7960T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502921T= | CA2335054833 | RYR1 | c.7877T= (p.Leu2626=) c.7874T= (p.Leu2625=) c.1329T= n.7960T= | |
19 | g.38502922G>A | CA070962 | RYR1 | c.7878G>A (p.Leu2626=) c.7875G>A (p.Leu2625=) c.1330G>A n.7961G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502922G>C | CA070963 | RYR1 | c.7878G>C (p.Leu2626=) c.7875G>C (p.Leu2625=) c.1330G>C n.7961G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502922G= | CA2335054834 | RYR1 | c.7878G= (p.Leu2626=) c.7875G= (p.Leu2625=) c.1330G= n.7961G= | |
19 | g.38502922G>T | CA507354059 | RYR1 | c.7878G>T (p.Leu2626=) c.7875G>T (p.Leu2625=) c.1330G>T n.7961G>T | gnomAD v4 |
19 | g.38502923G>A | CA405673885 | RYR1 | c.7879G>A (p.Val2627Met) c.7876G>A (p.Val2626Met) c.1331G>A n.7962G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38502923G>C | CA308113474 | RYR1 | c.7879G>C (p.Val2627Leu) c.7876G>C (p.Val2626Leu) c.1331G>C n.7962G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502923G= | CA2335054835 | RYR1 | c.7879G= (p.Val2627=) c.7876G= (p.Val2626=) c.1331G= n.7962G= | |
19 | g.38502923G>T | CA405673868 | RYR1 | c.7879G>T (p.Val2627Leu) c.7876G>T (p.Val2626Leu) c.1331G>T n.7962G>T | gnomAD v4 |
19 | g.38502924T>A | CA405673889 | RYR1 | c.7880T>A (p.Val2627Glu) c.7877T>A (p.Val2626Glu) c.1332T>A n.7963T>A | |
19 | g.38502924T>C | CA070969 | RYR1 | c.7880T>C (p.Val2627Ala) c.7877T>C (p.Val2626Ala) c.1332T>C n.7963T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502924T>G | CA082908 | RYR1 | c.7880T>G (p.Val2627Gly) c.7877T>G (p.Val2626Gly) c.1332T>G n.7963T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502924T= | CA2335054836 | RYR1 | c.7880T= (p.Val2627=) c.7877T= (p.Val2626=) c.1332T= n.7963T= | |
19 | g.38502924_38502939delinsA | CA082754 | RYR1 | c.7880_7895delinsA (p.Val2627_Ile2632delinsAsp) c.7877_7892delinsA (p.Val2626_Ile2631delinsAsp) c.1332_1347delinsA n.7963_7978delinsA | |
19 | g.38502925G>A | CA070973 | RYR1 | c.7881G>A (p.Val2627=) c.7878G>A (p.Val2626=) c.1333G>A n.7964G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502925G>C | CA082912 | RYR1 | c.7881G>C (p.Val2627=) c.7878G>C (p.Val2626=) c.1333G>C n.7964G>C | |
19 | g.38502925G= | CA2335054837 | RYR1 | c.7881G= (p.Val2627=) c.7878G= (p.Val2626=) c.1333G= n.7964G= | |
19 | g.38502925G>T | CA507354060 | RYR1 | c.7881G>T (p.Val2627=) c.7878G>T (p.Val2626=) c.1333G>T n.7964G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502926_38502929del | CA082759 | RYR1 | c.7882_7885del (p.Phe2628ThrfsTer?) c.7879_7882del (p.Phe2627ThrfsTer?) c.1334_1337del n.7965_7968del | |
19 | g.38502926T>A | CA405673894 | RYR1 | c.7882T>A (p.Phe2628Ile) c.7879T>A (p.Phe2627Ile) c.1334T>A n.7965T>A | |
19 | g.38502926T>C | CA405673906 | RYR1 | c.7882T>C (p.Phe2628Leu) c.7879T>C (p.Phe2627Leu) c.1334T>C n.7965T>C | |
19 | g.38502926T>G | CA405673917 | RYR1 | c.7882T>G (p.Phe2628Val) c.7879T>G (p.Phe2627Val) c.1334T>G n.7965T>G | |
19 | g.38502927T>A | CA405673932 | RYR1 | c.7883T>A (p.Phe2628Tyr) c.7880T>A (p.Phe2627Tyr) c.1335T>A n.7966T>A | |
19 | g.38502927T>C | CA082915 | RYR1 | c.7883T>C (p.Phe2628Ser) c.7880T>C (p.Phe2627Ser) c.1335T>C n.7966T>C | |
19 | g.38502927T>G | CA405673943 | RYR1 | c.7883T>G (p.Phe2628Cys) c.7880T>G (p.Phe2627Cys) c.1335T>G n.7966T>G | |
19 | g.38502928C>A | CA405673944 | RYR1 | c.7884C>A (p.Phe2628Leu) c.7881C>A (p.Phe2627Leu) c.1336C>A n.7967C>A | |
19 | g.38502928C= | CA2335054838 | RYR1 | c.7884C= (p.Phe2628=) c.7881C= (p.Phe2627=) c.1336C= n.7967C= | |
19 | g.38502928C>G | CA405673948 | RYR1 | c.7884C>G (p.Phe2628Leu) c.7881C>G (p.Phe2627Leu) c.1336C>G n.7967C>G | |
19 | g.38502928C>T | CA070978 | RYR1 | c.7884C>T (p.Phe2628=) c.7881C>T (p.Phe2627=) c.1336C>T n.7967C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502930_38502932dup | CA2825002790 | RYR1 | c.7886_7888dup (p.Asp2629_Val2630insAsp) c.7883_7885dup (p.Asp2628_Val2629insAsp) c.1338_1340dup n.7969_7971dup | ClinVar |
19 | g.38502929G>A | CA405673949 | RYR1 | c.7885G>A (p.Asp2629Asn) c.7882G>A (p.Asp2628Asn) c.1337G>A n.7968G>A | dbSNP gnomAD v2 |
19 | g.38502929G>C | CA405673950 | RYR1 | c.7885G>C (p.Asp2629His) c.7882G>C (p.Asp2628His) c.1337G>C n.7968G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502929G= | CA2335054839 | RYR1 | c.7885G= (p.Asp2629=) c.7882G= (p.Asp2628=) c.1337G= n.7968G= | |
19 | g.38502929G>T | CA405673951 | RYR1 | c.7885G>T (p.Asp2629Tyr) c.7882G>T (p.Asp2628Tyr) c.1337G>T n.7968G>T | |
19 | g.38502930A>C | CA405673955 | RYR1 | c.7886A>C (p.Asp2629Ala) c.7883A>C (p.Asp2628Ala) c.1338A>C n.7969A>C | gnomAD v4 |
19 | g.38502930A>G | CA405673952 | RYR1 | c.7886A>G (p.Asp2629Gly) c.7883A>G (p.Asp2628Gly) c.1338A>G n.7969A>G | |
19 | g.38502930A>T | CA405673953 | RYR1 | c.7886A>T (p.Asp2629Val) c.7883A>T (p.Asp2628Val) c.1338A>T n.7969A>T | gnomAD v4 |
19 | g.38502931C>A | CA405673961 | RYR1 | c.7887C>A (p.Asp2629Glu) c.7884C>A (p.Asp2628Glu) c.1339C>A n.7970C>A | ClinVar gnomAD v4 |
19 | g.38502931C= | CA2335054840 | RYR1 | c.7887C= (p.Asp2629=) c.7884C= (p.Asp2628=) c.1339C= n.7970C= | |
19 | g.38502931C>G | CA070983 | RYR1 | c.7887C>G (p.Asp2629Glu) c.7884C>G (p.Asp2628Glu) c.1339C>G n.7970C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502931C>T | CA070988 | RYR1 | c.7887C>T (p.Asp2629=) c.7884C>T (p.Asp2628=) c.1339C>T n.7970C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502932G>A | CA070994 | RYR1 | c.7888G>A (p.Val2630Met) c.7885G>A (p.Val2629Met) c.1340G>A n.7971G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502932G>C | CA024872 | RYR1 | c.7888G>C (p.Val2630Leu) c.7885G>C (p.Val2629Leu) c.1340G>C n.7971G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502932G= | CA2335054841 | RYR1 | c.7888G= (p.Val2630=) c.7885G= (p.Val2629=) c.1340G= n.7971G= | |
19 | g.38502932G>T | CA405673969 | RYR1 | c.7888G>T (p.Val2630Leu) c.7885G>T (p.Val2629Leu) c.1340G>T n.7971G>T | gnomAD v4 |
19 | g.38502933T>A | CA405673970 | RYR1 | c.7889T>A (p.Val2630Glu) c.7886T>A (p.Val2629Glu) c.1341T>A n.7972T>A | |
19 | g.38502933T>C | CA405673972 | RYR1 | c.7889T>C (p.Val2630Ala) c.7886T>C (p.Val2629Ala) c.1341T>C n.7972T>C | |
19 | g.38502933T>G | CA405673975 | RYR1 | c.7889T>G (p.Val2630Gly) c.7886T>G (p.Val2629Gly) c.1341T>G n.7972T>G | |
19 | g.38502934G>A | CA507354069 | RYR1 | c.7890G>A (p.Val2630=) c.7887G>A (p.Val2629=) c.1342G>A n.7973G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38502934G>C | CA10587321 | RYR1 | c.7890G>C (p.Val2630=) c.7887G>C (p.Val2629=) c.1342G>C n.7973G>C | ClinVar dbSNP gnomAD v4 |
19 | g.38502934G= | CA2335054842 | RYR1 | c.7890G= (p.Val2630=) c.7887G= (p.Val2629=) c.1342G= n.7973G= | |
19 | g.38502934G>T | CA082921 | RYR1 | c.7890G>T (p.Val2630=) c.7887G>T (p.Val2629=) c.1342G>T n.7973G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502935C>A | CA405674000 | RYR1 | c.7891C>A (p.Pro2631Thr) c.7888C>A (p.Pro2630Thr) c.1343C>A n.7974C>A | |
19 | g.38502935C>G | CA405673998 | RYR1 | c.7891C>G (p.Pro2631Ala) c.7888C>G (p.Pro2630Ala) c.1343C>G n.7974C>G | |
19 | g.38502935C>T | CA405673989 | RYR1 | c.7891C>T (p.Pro2631Ser) c.7888C>T (p.Pro2630Ser) c.1343C>T n.7974C>T | gnomAD v4 COSMIC |
19 | g.38502937del | CA2584901127 | RYR1 | c.7893del (p.Ile2632SerfsTer?) c.7890del (p.Ile2631SerfsTer?) c.1345del n.7976del | gnomAD v4 |
19 | g.38502936C>A | CA071003 | RYR1 | c.7892C>A (p.Pro2631His) c.7889C>A (p.Pro2630His) c.1344C>A n.7975C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502936C= | CA2335054843 | RYR1 | c.7892C= (p.Pro2631=) c.7889C= (p.Pro2630=) c.1344C= n.7975C= | |
19 | g.38502936C>G | CA405674009 | RYR1 | c.7892C>G (p.Pro2631Arg) c.7889C>G (p.Pro2630Arg) c.1344C>G n.7975C>G | |
19 | g.38502936C>T | CA405674012 | RYR1 | c.7892C>T (p.Pro2631Leu) c.7889C>T (p.Pro2630Leu) c.1344C>T n.7975C>T | gnomAD v4 COSMIC |
19 | g.38502937C>A | CA507354075 | RYR1 | c.7893C>A (p.Pro2631=) c.7890C>A (p.Pro2630=) c.1345C>A n.7976C>A | gnomAD v4 |
19 | g.38502937C= | CA2335054844 | RYR1 | c.7893C= (p.Pro2631=) c.7890C= (p.Pro2630=) c.1345C= n.7976C= | |
19 | g.38502937C>G | CA507354076 | RYR1 | c.7893C>G (p.Pro2631=) c.7890C>G (p.Pro2630=) c.1345C>G n.7976C>G | |
19 | g.38502937C>T | CA071008 | RYR1 | c.7893C>T (p.Pro2631=) c.7890C>T (p.Pro2630=) c.1345C>T n.7976C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502938A= | CA2335054845 | RYR1 | c.7894A= (p.Ile2632=) c.7891A= (p.Ile2631=) c.1346A= n.7977A= | |
19 | g.38502938A>C | CA405674020 | RYR1 | c.7894A>C (p.Ile2632Leu) c.7891A>C (p.Ile2631Leu) c.1346A>C n.7977A>C | |
19 | g.38502938A>G | CA405674022 | RYR1 | c.7894A>G (p.Ile2632Val) c.7891A>G (p.Ile2631Val) c.1346A>G n.7977A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502938A>T | CA405674027 | RYR1 | c.7894A>T (p.Ile2632Phe) c.7891A>T (p.Ile2631Phe) c.1346A>T n.7977A>T | |
19 | g.38502939T>A | CA405674041 | RYR1 | c.7895T>A (p.Ile2632Asn) c.7892T>A (p.Ile2631Asn) c.1347T>A n.7978T>A | |
19 | g.38502939T>C | CA405674049 | RYR1 | c.7895T>C (p.Ile2632Thr) c.7892T>C (p.Ile2631Thr) c.1347T>C n.7978T>C | |
19 | g.38502939T>G | CA405674047 | RYR1 | c.7895T>G (p.Ile2632Ser) c.7892T>G (p.Ile2631Ser) c.1347T>G n.7978T>G | |
19 | g.38502941_38502943del | CA2584901128 | RYR1 | c.7897_7899del (p.Leu2633del) c.7894_7896del (p.Leu2632del) c.1349_1351del n.7980_7982del | gnomAD v4 |
19 | g.38502940C>A | CA507354078 | RYR1 | c.7896C>A (p.Ile2632=) c.7893C>A (p.Ile2631=) c.1348C>A n.7979C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502940C= | CA2335054846 | RYR1 | c.7896C= (p.Ile2632=) c.7893C= (p.Ile2631=) c.1348C= n.7979C= | |
19 | g.38502940C>G | CA308113557 | RYR1 | c.7896C>G (p.Ile2632Met) c.7893C>G (p.Ile2631Met) c.1348C>G n.7979C>G | dbSNP gnomAD v4 |
19 | g.38502940C>T | CA082929 | RYR1 | c.7896C>T (p.Ile2632=) c.7893C>T (p.Ile2631=) c.1348C>T n.7979C>T | |
19 | g.38502941C>A | CA405674059 | RYR1 | c.7897C>A (p.Leu2633Ile) c.7894C>A (p.Leu2632Ile) c.1349C>A n.7980C>A | gnomAD v4 |
19 | g.38502941C= | CA2335054847 | RYR1 | c.7897C= (p.Leu2633=) c.7894C= (p.Leu2632=) c.1349C= n.7980C= | |
19 | g.38502941C>G | CA071011 | RYR1 | c.7897C>G (p.Leu2633Val) c.7894C>G (p.Leu2632Val) c.1349C>G n.7980C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502941C>T | CA405674061 | RYR1 | c.7897C>T (p.Leu2633Phe) c.7894C>T (p.Leu2632Phe) c.1349C>T n.7980C>T | |
19 | g.38502942T>A | CA405674065 | RYR1 | c.7898T>A (p.Leu2633His) c.7895T>A (p.Leu2632His) c.1350T>A n.7981T>A | |
19 | g.38502942T>C | CA405674069 | RYR1 | c.7898T>C (p.Leu2633Pro) c.7895T>C (p.Leu2632Pro) c.1350T>C n.7981T>C | |
19 | g.38502942T>G | CA405674067 | RYR1 | c.7898T>G (p.Leu2633Arg) c.7895T>G (p.Leu2632Arg) c.1350T>G n.7981T>G | |
19 | g.38502943C>A | CA507354083 | RYR1 | c.7899C>A (p.Leu2633=) c.7896C>A (p.Leu2632=) c.1351C>A n.7982C>A | gnomAD v4 |
19 | g.38502943C= | CA2335054848 | RYR1 | c.7899C= (p.Leu2633=) c.7896C= (p.Leu2632=) c.1351C= n.7982C= | |
19 | g.38502943C>G | CA507354085 | RYR1 | c.7899C>G (p.Leu2633=) c.7896C>G (p.Leu2632=) c.1351C>G n.7982C>G | dbSNP |
19 | g.38502943C>T | CA507354084 | RYR1 | c.7899C>T (p.Leu2633=) c.7896C>T (p.Leu2632=) c.1351C>T n.7982C>T | |
19 | g.38502943_38502944del | CA2839380704 | RYR1 | c.7899_7900del (p.Asn2634ArgfsTer15) c.7896_7897del (p.Asn2633ArgfsTer15) c.1351_1352del n.7982_7983del | |
19 | g.38502944A>C | CA405674070 | RYR1 | c.7900A>C (p.Asn2634His) c.7897A>C (p.Asn2633His) c.1352A>C n.7983A>C | |
19 | g.38502944A>G | CA405674072 | RYR1 | c.7900A>G (p.Asn2634Asp) c.7897A>G (p.Asn2633Asp) c.1352A>G n.7983A>G | gnomAD v4 |
19 | g.38502944A>T | CA405674075 | RYR1 | c.7900A>T (p.Asn2634Tyr) c.7897A>T (p.Asn2633Tyr) c.1352A>T n.7983A>T | |
19 | g.38502945A= | CA2335054849 | RYR1 | c.7901A= (p.Asn2634=) c.7898A= (p.Asn2633=) c.1353A= n.7984A= | |
19 | g.38502945A>C | CA405674091 | RYR1 | c.7901A>C (p.Asn2634Thr) c.7898A>C (p.Asn2633Thr) c.1353A>C n.7984A>C | |
19 | g.38502945A>G | CA405674110 | RYR1 | c.7901A>G (p.Asn2634Ser) c.7898A>G (p.Asn2633Ser) c.1353A>G n.7984A>G | dbSNP gnomAD v4 |
19 | g.38502945A>T | CA405674113 | RYR1 | c.7901A>T (p.Asn2634Ile) c.7898A>T (p.Asn2633Ile) c.1353A>T n.7984A>T | |
19 | g.38502946_38502948del | CA2584901129 | RYR1 | c.7902_7904del (p.Asn2634_Glu2635delinsLys) c.7899_7901del (p.Asn2633_Glu2634delinsLys) c.1354_1356del n.7985_7987del | gnomAD v4 |
19 | g.38502946C>A | CA071016 | RYR1 | c.7902C>A (p.Asn2634Lys) c.7899C>A (p.Asn2633Lys) c.1354C>A n.7985C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502946C= | CA2335054850 | RYR1 | c.7902C= (p.Asn2634=) c.7899C= (p.Asn2633=) c.1354C= n.7985C= | |
19 | g.38502946C>G | CA405674119 | RYR1 | c.7902C>G (p.Asn2634Lys) c.7899C>G (p.Asn2633Lys) c.1354C>G n.7985C>G | |
19 | g.38502946C>T | CA507354086 | RYR1 | c.7902C>T (p.Asn2634=) c.7899C>T (p.Asn2633=) c.1354C>T n.7985C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38502947G>A | CA308113562 | RYR1 | c.7903G>A (p.Glu2635Lys) c.7900G>A (p.Glu2634Lys) c.1355G>A n.7986G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502947G>C | CA071020 | RYR1 | c.7903G>C (p.Glu2635Gln) c.7900G>C (p.Glu2634Gln) c.1355G>C n.7986G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502947G= | CA2335054851 | RYR1 | c.7903G= (p.Glu2635=) c.7900G= (p.Glu2634=) c.1355G= n.7986G= | |
19 | g.38502947G>T | CA405674132 | RYR1 | c.7903G>T (p.Glu2635Ter) c.7900G>T (p.Glu2634Ter) c.1355G>T n.7986G>T | gnomAD v4 |
19 | g.38502948A= | CA2335054852 | RYR1 | c.7904A= (p.Glu2635=) c.7901A= (p.Glu2634=) c.1356A= n.7987A= | |
19 | g.38502948A>C | CA405674137 | RYR1 | c.7904A>C (p.Glu2635Ala) c.7901A>C (p.Glu2634Ala) c.1356A>C n.7987A>C | gnomAD v4 |
19 | g.38502948A>G | CA405674140 | RYR1 | c.7904A>G (p.Glu2635Gly) c.7901A>G (p.Glu2634Gly) c.1356A>G n.7987A>G | |
19 | g.38502948A>T | CA071025 | RYR1 | c.7904A>T (p.Glu2635Val) c.7901A>T (p.Glu2634Val) c.1356A>T n.7987A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502949G>A | CA507354091 | RYR1 | c.7905G>A (p.Glu2635=) c.7902G>A (p.Glu2634=) c.1357G>A n.7988G>A | |
19 | g.38502949G>C | CA405674143 | RYR1 | c.7905G>C (p.Glu2635Asp) c.7902G>C (p.Glu2634Asp) c.1357G>C n.7988G>C | |
19 | g.38502949G>T | CA405674147 | RYR1 | c.7905G>T (p.Glu2635Asp) c.7902G>T (p.Glu2634Asp) c.1357G>T n.7988G>T | gnomAD v4 |
19 | g.38502950T>A | CA405674151 | RYR1 | c.7906T>A (p.Phe2636Ile) c.7903T>A (p.Phe2635Ile) c.1358T>A n.7989T>A | |
19 | g.38502950T>C | CA405674170 | RYR1 | c.7906T>C (p.Phe2636Leu) c.7903T>C (p.Phe2635Leu) c.1358T>C n.7989T>C | gnomAD v4 |
19 | g.38502950T>G | CA405674157 | RYR1 | c.7906T>G (p.Phe2636Val) c.7903T>G (p.Phe2635Val) c.1358T>G n.7989T>G | |
19 | g.38502951T>A | CA405674173 | RYR1 | c.7907T>A (p.Phe2636Tyr) c.7904T>A (p.Phe2635Tyr) c.1359T>A n.7990T>A | |
19 | g.38502951T>C | CA405674179 | RYR1 | c.7907T>C (p.Phe2636Ser) c.7904T>C (p.Phe2635Ser) c.1359T>C n.7990T>C | |
19 | g.38502951T>G | CA405674182 | RYR1 | c.7907T>G (p.Phe2636Cys) c.7904T>G (p.Phe2635Cys) c.1359T>G n.7990T>G | |
19 | g.38502952C>A | CA405674186 | RYR1 | c.7908C>A (p.Phe2636Leu) c.7905C>A (p.Phe2635Leu) c.1360C>A n.7991C>A | |
19 | g.38502952C= | CA2335054853 | RYR1 | c.7908C= (p.Phe2636=) c.7905C= (p.Phe2635=) c.1360C= n.7991C= | |
19 | g.38502952C>G | CA405674191 | RYR1 | c.7908C>G (p.Phe2636Leu) c.7905C>G (p.Phe2635Leu) c.1360C>G n.7991C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502952C>T | CA507354095 | RYR1 | c.7908C>T (p.Phe2636=) c.7905C>T (p.Phe2635=) c.1360C>T n.7991C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.38502953G>A | CA405674196 | RYR1 | c.7909G>A (p.Ala2637Thr) c.7906G>A (p.Ala2636Thr) c.1361G>A n.7992G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502953G>C | CA405674199 | RYR1 | c.7909G>C (p.Ala2637Pro) c.7906G>C (p.Ala2636Pro) c.1361G>C n.7992G>C | ClinVar dbSNP |
19 | g.38502953G= | CA2335054854 | RYR1 | c.7909G= (p.Ala2637=) c.7906G= (p.Ala2636=) c.1361G= n.7992G= | |
19 | g.38502953G>T | CA405674200 | RYR1 | c.7909G>T (p.Ala2637Ser) c.7906G>T (p.Ala2636Ser) c.1361G>T n.7992G>T | ClinVar gnomAD v4 |
19 | g.38502954C>A | CA405674203 | RYR1 | c.7910C>A (p.Ala2637Asp) c.7907C>A (p.Ala2636Asp) c.1362C>A n.7993C>A | |
19 | g.38502954C>G | CA405674207 | RYR1 | c.7910C>G (p.Ala2637Gly) c.7907C>G (p.Ala2636Gly) c.1362C>G n.7993C>G | |
19 | g.38502954C>T | CA405674208 | RYR1 | c.7910C>T (p.Ala2637Val) c.7907C>T (p.Ala2636Val) c.1362C>T n.7993C>T | gnomAD v4 |
19 | g.38502955dup | CA2839380699 | RYR1 | c.7911dup (p.Lys2638GlnfsTer12) c.7908dup (p.Lys2637GlnfsTer12) c.1363dup n.7994dup | |
19 | g.38502955C>A | CA507354096 | RYR1 | c.7911C>A (p.Ala2637=) c.7908C>A (p.Ala2636=) c.1363C>A n.7994C>A | |
19 | g.38502955C= | CA2335054855 | RYR1 | c.7911C= (p.Ala2637=) c.7908C= (p.Ala2636=) c.1363C= n.7994C= | |
19 | g.38502955C>G | CA507354097 | RYR1 | c.7911C>G (p.Ala2637=) c.7908C>G (p.Ala2636=) c.1363C>G n.7994C>G | |
19 | g.38502955C>T | CA308113571 | RYR1 | c.7911C>T (p.Ala2637=) c.7908C>T (p.Ala2636=) c.1363C>T n.7994C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502956A>C | CA405674219 | RYR1 | c.7912A>C (p.Lys2638Gln) c.7909A>C (p.Lys2637Gln) c.1364A>C n.7995A>C | |
19 | g.38502956A>G | CA405674215 | RYR1 | c.7912A>G (p.Lys2638Glu) c.7909A>G (p.Lys2637Glu) c.1364A>G n.7995A>G | |
19 | g.38502956A>T | CA405674214 | RYR1 | c.7912A>T (p.Lys2638Ter) c.7909A>T (p.Lys2637Ter) c.1364A>T n.7995A>T | |
19 | g.38502957A>C | CA405674223 | RYR1 | c.7913A>C (p.Lys2638Thr) c.7910A>C (p.Lys2637Thr) c.1365A>C n.7996A>C | |
19 | g.38502957A>G | CA405674233 | RYR1 | c.7913A>G (p.Lys2638Arg) c.7910A>G (p.Lys2637Arg) c.1365A>G n.7996A>G | |
19 | g.38502957A>T | CA405674237 | RYR1 | c.7913A>T (p.Lys2638Met) c.7910A>T (p.Lys2637Met) c.1365A>T n.7996A>T | |
19 | g.38502958G>A | CA507354101 | RYR1 | c.7914G>A (p.Lys2638=) c.7911G>A (p.Lys2637=) c.1366G>A n.7997G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502958G>C | CA405674240 | RYR1 | c.7914G>C (p.Lys2638Asn) c.7911G>C (p.Lys2637Asn) c.1366G>C n.7997G>C | |
19 | g.38502958G= | CA2335054856 | RYR1 | c.7914G= (p.Lys2638=) c.7911G= (p.Lys2637=) c.1366G= n.7997G= | |
19 | g.38502958G>T | CA405674244 | RYR1 | c.7914G>T (p.Lys2638Asn) c.7911G>T (p.Lys2637Asn) c.1366G>T n.7997G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502959A= | CA2335054857 | RYR1 | c.7915A= (p.Met2639=) c.7912A= (p.Met2638=) c.1367A= n.7998A= | |
19 | g.38502959A>C | CA308113591 | RYR1 | c.7915A>C (p.Met2639Leu) c.7912A>C (p.Met2638Leu) c.1367A>C n.7998A>C | ClinVar dbSNP gnomAD v4 |
19 | g.38502959A>G | CA405674250 | RYR1 | c.7915A>G (p.Met2639Val) c.7912A>G (p.Met2638Val) c.1367A>G n.7998A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502959A>T | CA405674252 | RYR1 | c.7915A>T (p.Met2639Leu) c.7912A>T (p.Met2638Leu) c.1367A>T n.7998A>T | |
19 | g.38502959dup | CA507354102 | RYR1 | c.7915dup (p.Met2639AsnfsTer11) c.7912dup (p.Met2638AsnfsTer11) c.1367dup n.7998dup | |
19 | g.38502960T>A | CA405674254 | RYR1 | c.7916T>A (p.Met2639Lys) c.7913T>A (p.Met2638Lys) c.1368T>A n.7999T>A | |
19 | g.38502960T>C | CA405674257 | RYR1 | c.7916T>C (p.Met2639Thr) c.7913T>C (p.Met2638Thr) c.1368T>C n.7999T>C | |
19 | g.38502960T>G | CA405674261 | RYR1 | c.7916T>G (p.Met2639Arg) c.7913T>G (p.Met2638Arg) c.1368T>G n.7999T>G | |
19 | g.38502961G>A | CA405674264 | RYR1 | c.7917G>A (p.Met2639Ile) c.7914G>A (p.Met2638Ile) c.1369G>A n.8000G>A | |
19 | g.38502961G>C | CA405674263 | RYR1 | c.7917G>C (p.Met2639Ile) c.7914G>C (p.Met2638Ile) c.1369G>C n.8000G>C | |
19 | g.38502961G>T | CA405674262 | RYR1 | c.7917G>T (p.Met2639Ile) c.7914G>T (p.Met2638Ile) c.1369G>T n.8000G>T | gnomAD v4 |
19 | g.38502962C>A | CA405674265 | RYR1 | c.7918C>A (p.Pro2640Thr) c.7915C>A (p.Pro2639Thr) c.1370C>A n.8001C>A | gnomAD v4 |
19 | g.38502962C= | CA2335054858 | RYR1 | c.7918C= (p.Pro2640=) c.7915C= (p.Pro2639=) c.1370C= n.8001C= | |
19 | g.38502962C>G | CA405674266 | RYR1 | c.7918C>G (p.Pro2640Ala) c.7915C>G (p.Pro2639Ala) c.1370C>G n.8001C>G | |
19 | g.38502962C>T | CA405674267 | RYR1 | c.7918C>T (p.Pro2640Ser) c.7915C>T (p.Pro2639Ser) c.1370C>T n.8001C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502963C>A | CA405674269 | RYR1 | c.7919C>A (p.Pro2640Gln) c.7916C>A (p.Pro2639Gln) c.1371C>A n.8002C>A | gnomAD v4 |
19 | g.38502963C= | CA2335054859 | RYR1 | c.7919C= (p.Pro2640=) c.7916C= (p.Pro2639=) c.1371C= n.8002C= | |
19 | g.38502963C>G | CA405674271 | RYR1 | c.7919C>G (p.Pro2640Arg) c.7916C>G (p.Pro2639Arg) c.1371C>G n.8002C>G | |
19 | g.38502963C>T | CA308113598 | RYR1 | c.7919C>T (p.Pro2640Leu) c.7916C>T (p.Pro2639Leu) c.1371C>T n.8002C>T | dbSNP gnomAD v4 |
19 | g.38502964A>C | CA507354021 | RYR1 | c.7920A>C (p.Pro2640=) c.7917A>C (p.Pro2639=) c.1372A>C n.8003A>C | |
19 | g.38502964A>G | CA507354022 | RYR1 | c.7920A>G (p.Pro2640=) c.7917A>G (p.Pro2639=) c.1372A>G n.8003A>G | gnomAD v4 |
19 | g.38502964A>T | CA507354023 | RYR1 | c.7920A>T (p.Pro2640=) c.7917A>T (p.Pro2639=) c.1372A>T n.8003A>T | |
19 | g.38502965C>A | CA405674275 | RYR1 | c.7921C>A (p.Leu2641Ile) c.7918C>A (p.Leu2640Ile) c.1373C>A n.8004C>A | |
19 | g.38502965C= | CA2335054860 | RYR1 | c.7921C= (p.Leu2641=) c.7918C= (p.Leu2640=) c.1373C= n.8004C= | |
19 | g.38502965C>G | CA405674281 | RYR1 | c.7921C>G (p.Leu2641Val) c.7918C>G (p.Leu2640Val) c.1373C>G n.8004C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502965C>T | CA308113606 | RYR1 | c.7921C>T (p.Leu2641Phe) c.7918C>T (p.Leu2640Phe) c.1373C>T n.8004C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502966T>A | CA405674287 | RYR1 | c.7922T>A (p.Leu2641His) c.7919T>A (p.Leu2640His) c.1374T>A n.8005T>A | |
19 | g.38502966T>C | CA405674288 | RYR1 | c.7922T>C (p.Leu2641Pro) c.7919T>C (p.Leu2640Pro) c.1374T>C n.8005T>C | |
19 | g.38502966T>G | CA405674290 | RYR1 | c.7922T>G (p.Leu2641Arg) c.7919T>G (p.Leu2640Arg) c.1374T>G n.8005T>G | |
19 | g.38502967C>A | CA507354025 | RYR1 | c.7923C>A (p.Leu2641=) c.7920C>A (p.Leu2640=) c.1375C>A n.8006C>A | gnomAD v4 |
19 | g.38502967C= | CA2335054861 | RYR1 | c.7923C= (p.Leu2641=) c.7920C= (p.Leu2640=) c.1375C= n.8006C= | |
19 | g.38502967C>G | CA024874 | RYR1 | c.7923C>G (p.Leu2641=) c.7920C>G (p.Leu2640=) c.1375C>G n.8006C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502967C>T | CA507354026 | RYR1 | c.7923C>T (p.Leu2641=) c.7920C>T (p.Leu2640=) c.1375C>T n.8006C>T | gnomAD v4 |
19 | g.38502968A>C | CA405674300 | RYR1 | c.7924A>C (p.Lys2642Gln) c.7921A>C (p.Lys2641Gln) c.1376A>C n.8007A>C | gnomAD v4 |
19 | g.38502968A>G | CA405674294 | RYR1 | c.7924A>G (p.Lys2642Glu) c.7921A>G (p.Lys2641Glu) c.1376A>G n.8007A>G | gnomAD v4 |
19 | g.38502968A>T | CA405674296 | RYR1 | c.7924A>T (p.Lys2642Ter) c.7921A>T (p.Lys2641Ter) c.1376A>T n.8007A>T | |
19 | g.38502969A= | CA2335054862 | RYR1 | c.7925A= (p.Lys2642=) c.7922A= (p.Lys2641=) c.1377A= n.8008A= | |
19 | g.38502969A>C | CA405674302 | RYR1 | c.7925A>C (p.Lys2642Thr) c.7922A>C (p.Lys2641Thr) c.1377A>C n.8008A>C | |
19 | g.38502969A>G | CA071033 | RYR1 | c.7925A>G (p.Lys2642Arg) c.7922A>G (p.Lys2641Arg) c.1377A>G n.8008A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502969A>T | CA405674309 | RYR1 | c.7925A>T (p.Lys2642Met) c.7922A>T (p.Lys2641Met) c.1377A>T n.8008A>T | ClinVar |
19 | g.38502970G>A | CA507354031 | RYR1 | c.7926G>A (p.Lys2642=) c.7923G>A (p.Lys2641=) c.1378G>A n.8009G>A | ClinVar gnomAD v4 |
19 | g.38502970G>C | CA405674318 | RYR1 | c.7926G>C (p.Lys2642Asn) c.7923G>C (p.Lys2641Asn) c.1378G>C n.8009G>C | |
19 | g.38502970G>T | CA405674320 | RYR1 | c.7926G>T (p.Lys2642Asn) c.7923G>T (p.Lys2641Asn) c.1378G>T n.8009G>T | gnomAD v4 |
19 | g.38502971G>A | CA405674323 | RYR1 | c.7926+1G>A (n.7926+1G>A) c.7923+1G>A (n.7923+1G>A) c.1378+1G>A n.8009+1G>A | gnomAD v4 |
19 | g.38502971G>C | CA308113615 | RYR1 | c.7926+1G>C (n.7926+1G>C) c.7923+1G>C (n.7923+1G>C) c.1378+1G>C n.8009+1G>C | dbSNP |
19 | g.38502971G= | CA2335054863 | RYR1 | c.7926+1G= (n.7926+1G=) c.7923+1G= (n.7923+1G=) c.1378+1G= n.8009+1G= | |
19 | g.38502971G>T | CA405674332 | RYR1 | c.7926+1G>T (n.7926+1G>T) c.7923+1G>T (n.7923+1G>T) c.1378+1G>T n.8009+1G>T | gnomAD v4 |
19 | g.38502972T>A | CA405674334 | RYR1 | c.7926+2T>A (n.7926+2T>A) c.7923+2T>A (n.7923+2T>A) c.1378+2T>A n.8009+2T>A | |
19 | g.38502972T>C | CA405674336 | RYR1 | c.7926+2T>C (n.7926+2T>C) c.7923+2T>C (n.7923+2T>C) c.1378+2T>C n.8009+2T>C | ClinVar dbSNP |
19 | g.38502972T>G | CA405674338 | RYR1 | c.7926+2T>G (n.7926+2T>G) c.7923+2T>G (n.7923+2T>G) c.1378+2T>G n.8009+2T>G | |
19 | g.38502972T= | CA2335054864 | RYR1 | c.7926+2T= (n.7926+2T=) c.7923+2T= (n.7923+2T=) c.1378+2T= n.8009+2T= | |
19 | g.38502973G>A | CA2584901130 | RYR1 | c.7926+3G>A (n.7926+3G>A) c.7923+3G>A (n.7923+3G>A) c.1378+3G>A n.8009+3G>A | gnomAD v4 |
19 | g.38502973G>C | CA633066178 | RYR1 | c.7926+3G>C (n.7926+3G>C) c.7923+3G>C (n.7923+3G>C) c.1378+3G>C n.8009+3G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502973G= | CA2335054865 | RYR1 | c.7926+3G= (n.7926+3G=) c.7923+3G= (n.7923+3G=) c.1378+3G= n.8009+3G= | |
19 | g.38502973G>T | CA2584901131 | RYR1 | c.7926+3G>T (n.7926+3G>T) c.7923+3G>T (n.7923+3G>T) c.1378+3G>T n.8009+3G>T | gnomAD v4 |
19 | g.38502974A>G | CA2584901132 | RYR1 | c.7926+4A>G (n.7926+4A>G) c.7923+4A>G (n.7923+4A>G) c.1378+4A>G n.8009+4A>G | gnomAD v4 |
19 | g.38502975G>A | CA658799202 | RYR1 | c.7926+5G>A (n.7926+5G>A) c.7923+5G>A (n.7923+5G>A) c.1378+5G>A n.8009+5G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502975G= | CA2335054866 | RYR1 | c.7926+5G= (n.7926+5G=) c.7923+5G= (n.7923+5G=) c.1378+5G= n.8009+5G= | |
19 | g.38502975G>T | CA2584901134 | RYR1 | c.7926+5G>T (n.7926+5G>T) c.7923+5G>T (n.7923+5G>T) c.1378+5G>T n.8009+5G>T | gnomAD v4 |
19 | g.38502977del | CA2584901133 | RYR1 | c.7926+7del (n.7926+7del) c.7923+7del (n.7923+7del) c.1378+7del n.8009+7del | gnomAD v4 |
19 | g.38502976G>A | CA071068 | RYR1 | c.7926+6G>A (n.7926+6G>A) c.7923+6G>A (n.7923+6G>A) c.1378+6G>A n.8009+6G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502976G= | CA2335054867 | RYR1 | c.7926+6G= (n.7926+6G=) c.7923+6G= (n.7923+6G=) c.1378+6G= n.8009+6G= | |
19 | g.38502976G>T | CA2584901135 | RYR1 | c.7926+6G>T (n.7926+6G>T) c.7923+6G>T (n.7923+6G>T) c.1378+6G>T n.8009+6G>T | gnomAD v4 |
19 | g.38502977G>A | CA2584901136 | RYR1 | c.7926+7G>A (n.7926+7G>A) c.7923+7G>A (n.7923+7G>A) c.1378+7G>A n.8009+7G>A | gnomAD v4 |
19 | g.38502977G>T | CA2584901137 | RYR1 | c.7926+7G>T (n.7926+7G>T) c.7923+7G>T (n.7923+7G>T) c.1378+7G>T n.8009+7G>T | gnomAD v4 |
19 | g.38502979A>C | CA2838819030 | RYR1 | c.7926+9A>C (n.7926+9A>C) c.7923+9A>C (n.7923+9A>C) c.1378+9A>C n.8009+9A>C | |
19 | g.38502979A>G | CA2584901138 | RYR1 | c.7926+9A>G (n.7926+9A>G) c.7923+9A>G (n.7923+9A>G) c.1378+9A>G n.8009+9A>G | gnomAD v4 |
19 | g.38502980A= | CA2335054868 | RYR1 | c.7926+10A= (n.7926+10A=) c.7923+10A= (n.7923+10A=) c.1378+10A= n.8009+10A= | |
19 | g.38502980A>G | CA071038 | RYR1 | c.7926+10A>G (n.7926+10A>G) c.7923+10A>G (n.7923+10A>G) c.1378+10A>G n.8009+10A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |