Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38502874C= | CA2335054789 | RYR1 | c.7836-6C= (n.7836-6C=) c.7833-6C= (n.7833-6C=) c.1288-6C= n.7919-6C= | |
19 | g.38502874C>G | CA308113304 | RYR1 | c.7836-6C>G (n.7836-6C>G) c.7833-6C>G (n.7833-6C>G) c.1288-6C>G n.7919-6C>G | dbSNP gnomAD v4 |
19 | g.38502874C>T | CA070758 | RYR1 | c.7836-6C>T (n.7836-6C>T) c.7833-6C>T (n.7833-6C>T) c.1288-6C>T n.7919-6C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502875C>A | CA2499225471 | RYR1 | c.7836-5C>A (n.7836-5C>A) c.7833-5C>A (n.7833-5C>A) c.1288-5C>A n.7919-5C>A | ClinVar dbSNP gnomAD v4 |
19 | g.38502875C= | CA2335054790 | RYR1 | c.7836-5C= (n.7836-5C=) c.7833-5C= (n.7833-5C=) c.1288-5C= n.7919-5C= | |
19 | g.38502875C>G | CA633066371 | RYR1 | c.7836-5C>G (n.7836-5C>G) c.7833-5C>G (n.7833-5C>G) c.1288-5C>G n.7919-5C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502875C>T | CA633066372 | RYR1 | c.7836-5C>T (n.7836-5C>T) c.7833-5C>T (n.7833-5C>T) c.1288-5C>T n.7919-5C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502876G>A | CA070721 | RYR1 | c.7836-4G>A (n.7836-4G>A) c.7833-4G>A (n.7833-4G>A) c.1288-4G>A n.7919-4G>A | ClinVar dbSNP ExAC gnomAD v4 |
19 | g.38502876G>C | CA2584901125 | RYR1 | c.7836-4G>C (n.7836-4G>C) c.7833-4G>C (n.7833-4G>C) c.1288-4G>C n.7919-4G>C | gnomAD v4 |
19 | g.38502876G= | CA2335054791 | RYR1 | c.7836-4G= (n.7836-4G=) c.7833-4G= (n.7833-4G=) c.1288-4G= n.7919-4G= | |
19 | g.38502876G>T | CA645612040 | RYR1 | c.7836-4G>T (n.7836-4G>T) c.7833-4G>T (n.7833-4G>T) c.1288-4G>T n.7919-4G>T | gnomAD v4 COSMIC |
19 | g.38502877C>A | CA2576771139 | RYR1 | c.7836-3C>A (n.7836-3C>A) c.7833-3C>A (n.7833-3C>A) c.1288-3C>A n.7919-3C>A | |
19 | g.38502877C= | CA2335054792 | RYR1 | c.7836-3C= (n.7836-3C=) c.7833-3C= (n.7833-3C=) c.1288-3C= n.7919-3C= | |
19 | g.38502877C>G | CA2580097218 | RYR1 | c.7836-3C>G (n.7836-3C>G) c.7833-3C>G (n.7833-3C>G) c.1288-3C>G n.7919-3C>G | ClinVar gnomAD v4 |
19 | g.38502877C>T | CA082854 | RYR1 | c.7836-3C>T (n.7836-3C>T) c.7833-3C>T (n.7833-3C>T) c.1288-3C>T n.7919-3C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502878A= | CA2335054793 | RYR1 | c.7836-2A= (n.7836-2A=) c.7833-2A= (n.7833-2A=) c.1288-2A= n.7919-2A= | |
19 | g.38502878A>C | CA405673458 | RYR1 | c.7836-2A>C (n.7836-2A>C) c.7833-2A>C (n.7833-2A>C) c.1288-2A>C n.7919-2A>C | gnomAD v4 |
19 | g.38502878A>G | CA405673469 | RYR1 | c.7836-2A>G (n.7836-2A>G) c.7833-2A>G (n.7833-2A>G) c.1288-2A>G n.7919-2A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502878A>T | CA405673472 | RYR1 | c.7836-2A>T (n.7836-2A>T) c.7833-2A>T (n.7833-2A>T) c.1288-2A>T n.7919-2A>T | |
19 | g.38502879G>A | CA082842 | RYR1 | c.7836-1G>A (n.7836-1G>A) c.7833-1G>A (n.7833-1G>A) c.1288-1G>A n.7919-1G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38502879G>C | CA405673477 | RYR1 | c.7836-1G>C (n.7836-1G>C) c.7833-1G>C (n.7833-1G>C) c.1288-1G>C n.7919-1G>C | |
19 | g.38502879G= | CA2335054794 | RYR1 | c.7836-1G= (n.7836-1G=) c.7833-1G= (n.7833-1G=) c.1288-1G= n.7919-1G= | |
19 | g.38502879G>T | CA405673480 | RYR1 | c.7836-1G>T (n.7836-1G>T) c.7833-1G>T (n.7833-1G>T) c.1288-1G>T n.7919-1G>T | gnomAD v4 COSMIC |
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 |