Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38502488_38502544delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA | CA2335054339 | RYR1 | c.7615-19_7652delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA c.7612-19_7649delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA c.1067-19_1104delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA n.7698-19_7735delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA | |
19 | g.38502491_38502546del | CA633066602 | RYR1 | c.7615-16_7654del c.7612-16_7651del c.1067-16_1106del n.7698-16_7737del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502514del | CA2584900594 | RYR1 | c.7622del (p.Phe2541SerfsTer10) c.7619del (p.Phe2540SerfsTer10) c.1074del n.7705del | gnomAD v4 |
19 | g.38502514T>A | CA405671321 | RYR1 | c.7622T>A (p.Phe2541Tyr) c.7619T>A (p.Phe2540Tyr) c.1074T>A n.7705T>A | |
19 | g.38502514T>C | CA405671319 | RYR1 | c.7622T>C (p.Phe2541Ser) c.7619T>C (p.Phe2540Ser) c.1074T>C n.7705T>C | |
19 | g.38502514T>G | CA405671320 | RYR1 | c.7622T>G (p.Phe2541Cys) c.7619T>G (p.Phe2540Cys) c.1074T>G n.7705T>G | gnomAD v4 |
19 | g.38502514T= | CA2335054364 | RYR1 | c.7622T= (p.Phe2541=) c.7619T= (p.Phe2540=) c.1074T= n.7705T= | |
19 | g.38502514_38502515insTTTAATGATACGT | CA2528226534 | RYR1 | c.7622_7623insTTTAATGATACGT (p.Ser2542LeufsTer?) c.7619_7620insTTTAATGATACGT (p.Ser2541LeufsTer?) c.1074_1075insTTTAATGATACGT n.7705_7706insTTTAATGATACGT | |
19 | g.38502514_38502515insTTTAATGATA | CA633066608 | RYR1 | c.7622_7623insTTTAATGATA (p.Ser2542LeufsTer?) c.7619_7620insTTTAATGATA (p.Ser2541LeufsTer?) c.1074_1075insTTTAATGATA n.7705_7706insTTTAATGATA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502514_38502515insTTTAATGCTA | CA995717051 | RYR1 | c.7622_7623insTTTAATGCTA (p.Ser2542LeufsTer?) c.7619_7620insTTTAATGCTA (p.Ser2541LeufsTer?) c.1074_1075insTTTAATGCTA n.7705_7706insTTTAATGCTA | gnomAD v3 gnomAD v4 |
19 | g.38502514_38502515insTTTACTGATA | CA995717054 | RYR1 | c.7622_7623insTTTACTGATA (p.Ser2542LeufsTer?) c.7619_7620insTTTACTGATA (p.Ser2541LeufsTer?) c.1074_1075insTTTACTGATA n.7705_7706insTTTACTGATA | gnomAD v3 gnomAD v4 |
19 | g.38502514_38502515insTTTGATGATA | CA995717055 | RYR1 | c.7622_7623insTTTGATGATA (p.Ser2542LeufsTer?) c.7619_7620insTTTGATGATA (p.Ser2541LeufsTer?) c.1074_1075insTTTGATGATA n.7705_7706insTTTGATGATA | gnomAD v3 gnomAD v4 |
19 | g.38502515C>A | CA405671322 | RYR1 | c.7623C>A (p.Phe2541Leu) c.7620C>A (p.Phe2540Leu) c.1075C>A n.7706C>A | |
19 | g.38502515C>G | CA405671323 | RYR1 | c.7623C>G (p.Phe2541Leu) c.7620C>G (p.Phe2540Leu) c.1075C>G n.7706C>G | gnomAD v4 |
19 | g.38502515C>T | CA507243695 | RYR1 | c.7623C>T (p.Phe2541=) c.7620C>T (p.Phe2540=) c.1075C>T n.7706C>T | ClinVar |
19 | g.38502516del | CA2565678219 | RYR1 | c.7624del (p.Ser2542AlafsTer9) c.7621del (p.Ser2541AlafsTer9) c.1076del n.7707del | |
19 | g.38502516A= | CA2335054365 | RYR1 | c.7624A= (p.Ser2542=) c.7621A= (p.Ser2541=) c.1076A= n.7707A= | |
19 | g.38502516A>C | CA405671324 | RYR1 | c.7624A>C (p.Ser2542Arg) c.7621A>C (p.Ser2541Arg) c.1076A>C n.7707A>C | |
19 | g.38502516A>G | CA405671325 | RYR1 | c.7624A>G (p.Ser2542Gly) c.7621A>G (p.Ser2541Gly) c.1076A>G n.7707A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502516A>T | CA405671326 | RYR1 | c.7624A>T (p.Ser2542Cys) c.7621A>T (p.Ser2541Cys) c.1076A>T n.7707A>T | |
19 | g.38502517G>A | CA405671327 | RYR1 | c.7625G>A (p.Ser2542Asn) c.7622G>A (p.Ser2541Asn) c.1077G>A n.7708G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502517G>C | CA405671329 | RYR1 | c.7625G>C (p.Ser2542Thr) c.7622G>C (p.Ser2541Thr) c.1077G>C n.7708G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502517G= | CA2335054366 | RYR1 | c.7625G= (p.Ser2542=) c.7622G= (p.Ser2541=) c.1077G= n.7708G= | |
19 | g.38502517G>T | CA405671328 | RYR1 | c.7625G>T (p.Ser2542Ile) c.7622G>T (p.Ser2541Ile) c.1077G>T n.7708G>T | gnomAD v4 |
19 | g.38502518del | CA2503579571 | RYR1 | c.7626del (p.Ser2542ArgfsTer9) c.7623del (p.Ser2541ArgfsTer9) c.1078del n.7709del | |
19 | g.38502518C>A | CA405671330 | RYR1 | c.7626C>A (p.Ser2542Arg) c.7623C>A (p.Ser2541Arg) c.1078C>A n.7709C>A | |
19 | g.38502518C= | CA2335054367 | RYR1 | c.7626C= (p.Ser2542=) c.7623C= (p.Ser2541=) c.1078C= n.7709C= | |
19 | g.38502518C>G | CA405671332 | RYR1 | c.7626C>G (p.Ser2542Arg) c.7623C>G (p.Ser2541Arg) c.1078C>G n.7709C>G | dbSNP |
19 | g.38502518C>T | CA069880 | RYR1 | c.7626C>T (p.Ser2542=) c.7623C>T (p.Ser2541=) c.1078C>T n.7709C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502518_38502519insG | CA633066609 | RYR1 | c.7626_7627insG (p.Thr2543AspfsTer?) c.7623_7624insG (p.Thr2542AspfsTer?) c.1078_1079insG n.7709_7710insG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502519A>C | CA405671335 | RYR1 | c.7627A>C (p.Thr2543Pro) c.7624A>C (p.Thr2542Pro) c.1079A>C n.7710A>C | |
19 | g.38502519A>G | CA405671338 | RYR1 | c.7627A>G (p.Thr2543Ala) c.7624A>G (p.Thr2542Ala) c.1079A>G n.7710A>G | |
19 | g.38502519A>T | CA405671344 | RYR1 | c.7627A>T (p.Thr2543Ser) c.7624A>T (p.Thr2542Ser) c.1079A>T n.7710A>T | |
19 | g.38502520C>A | CA405671356 | RYR1 | c.7628C>A (p.Thr2543Asn) c.7625C>A (p.Thr2542Asn) c.1080C>A n.7711C>A | gnomAD v4 |
19 | g.38502520C= | CA2335054368 | RYR1 | c.7628C= (p.Thr2543=) c.7625C= (p.Thr2542=) c.1080C= n.7711C= | |
19 | g.38502520C>G | CA405671360 | RYR1 | c.7628C>G (p.Thr2543Ser) c.7625C>G (p.Thr2542Ser) c.1080C>G n.7711C>G | |
19 | g.38502520C>T | CA405671362 | RYR1 | c.7628C>T (p.Thr2543Ile) c.7625C>T (p.Thr2542Ile) c.1080C>T n.7711C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502521C>A | CA507243697 | RYR1 | c.7629C>A (p.Thr2543=) c.7626C>A (p.Thr2542=) c.1081C>A n.7712C>A | gnomAD v4 |
19 | g.38502521C>G | CA507243698 | RYR1 | c.7629C>G (p.Thr2543=) c.7626C>G (p.Thr2542=) c.1081C>G n.7712C>G | |
19 | g.38502521C>T | CA082514 | RYR1 | c.7629C>T (p.Thr2543=) c.7626C>T (p.Thr2542=) c.1081C>T n.7712C>T | |
19 | g.38502522A= | CA2335054369 | RYR1 | c.7630A= (p.Thr2544=) c.7627A= (p.Thr2543=) c.1082A= n.7713A= | |
19 | g.38502522A>C | CA405671372 | RYR1 | c.7630A>C (p.Thr2544Pro) c.7627A>C (p.Thr2543Pro) c.1082A>C n.7713A>C | |
19 | g.38502522A>G | CA069884 | RYR1 | c.7630A>G (p.Thr2544Ala) c.7627A>G (p.Thr2543Ala) c.1082A>G n.7713A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502522A>T | CA405671378 | RYR1 | c.7630A>T (p.Thr2544Ser) c.7627A>T (p.Thr2543Ser) c.1082A>T n.7713A>T | |
19 | g.38502523C>A | CA405671382 | RYR1 | c.7631C>A (p.Thr2544Asn) c.7628C>A (p.Thr2543Asn) c.1083C>A n.7714C>A | |
19 | g.38502523C= | CA2335054370 | RYR1 | c.7631C= (p.Thr2544=) c.7628C= (p.Thr2543=) c.1083C= n.7714C= | |
19 | g.38502523C>G | CA069888 | RYR1 | c.7631C>G (p.Thr2544Ser) c.7628C>G (p.Thr2543Ser) c.1083C>G n.7714C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502523C>T | CA405671380 | RYR1 | c.7631C>T (p.Thr2544Ile) c.7628C>T (p.Thr2543Ile) c.1083C>T n.7714C>T | |
19 | g.38502524C>A | CA507243699 | RYR1 | c.7632C>A (p.Thr2544=) c.7629C>A (p.Thr2543=) c.1084C>A n.7715C>A | gnomAD v4 |
19 | g.38502524C= | CA2335054371 | RYR1 | c.7632C= (p.Thr2544=) c.7629C= (p.Thr2543=) c.1084C= n.7715C= | |
19 | g.38502524C>G | CA507243700 | RYR1 | c.7632C>G (p.Thr2544=) c.7629C>G (p.Thr2543=) c.1084C>G n.7715C>G | gnomAD v4 |
19 | g.38502524C>T | CA507243701 | RYR1 | c.7632C>T (p.Thr2544=) c.7629C>T (p.Thr2543=) c.1084C>T n.7715C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502525G>A | CA082493 | RYR1 | c.7633G>A (p.Glu2545Lys) c.7630G>A (p.Glu2544Lys) c.1085G>A n.7716G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38502525G>C | CA069896 | RYR1 | c.7633G>C (p.Glu2545Gln) c.7630G>C (p.Glu2544Gln) c.1085G>C n.7716G>C | dbSNP ExAC |
19 | g.38502525G= | CA2335054372 | RYR1 | c.7633G= (p.Glu2545=) c.7630G= (p.Glu2544=) c.1085G= n.7716G= | |
19 | g.38502525G>T | CA405671387 | RYR1 | c.7633G>T (p.Glu2545Ter) c.7630G>T (p.Glu2544Ter) c.1085G>T n.7716G>T | gnomAD v4 |
19 | g.38502526A>C | CA405671391 | RYR1 | c.7634A>C (p.Glu2545Ala) c.7631A>C (p.Glu2544Ala) c.1086A>C n.7717A>C | |
19 | g.38502526A>G | CA405671393 | RYR1 | c.7634A>G (p.Glu2545Gly) c.7631A>G (p.Glu2544Gly) c.1086A>G n.7717A>G | gnomAD v4 |
19 | g.38502526A>T | CA405671397 | RYR1 | c.7634A>T (p.Glu2545Val) c.7631A>T (p.Glu2544Val) c.1086A>T n.7717A>T | |
19 | g.38502527G>A | CA308111842 | RYR1 | c.7635G>A (p.Glu2545=) c.7632G>A (p.Glu2544=) c.1087G>A n.7718G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502527G>C | CA024839 | RYR1 | c.7635G>C (p.Glu2545Asp) c.7632G>C (p.Glu2544Asp) c.1087G>C n.7718G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502527G= | CA2335053788 | RYR1 | c.7635G= (p.Glu2545=) c.7632G= (p.Glu2544=) c.1087G= n.7718G= | |
19 | g.38502527G>T | CA405671402 | RYR1 | c.7635G>T (p.Glu2545Asp) c.7632G>T (p.Glu2544Asp) c.1087G>T n.7718G>T | gnomAD v4 |
19 | g.38502528A= | CA2335053791 | RYR1 | c.7636A= (p.Met2546=) c.7633A= (p.Met2545=) c.1088A= n.7719A= | |
19 | g.38502528A>C | CA405671408 | RYR1 | c.7636A>C (p.Met2546Leu) c.7633A>C (p.Met2545Leu) c.1088A>C n.7719A>C | |
19 | g.38502528A>G | CA405671411 | RYR1 | c.7636A>G (p.Met2546Val) c.7633A>G (p.Met2545Val) c.1088A>G n.7719A>G | ClinVar |
19 | g.38502528A>T | CA405671412 | RYR1 | c.7636A>T (p.Met2546Leu) c.7633A>T (p.Met2545Leu) c.1088A>T n.7719A>T | |
19 | g.38502529T>A | CA405671417 | RYR1 | c.7637T>A (p.Met2546Lys) c.7634T>A (p.Met2545Lys) c.1089T>A n.7720T>A | |
19 | g.38502529T>C | CA405671419 | RYR1 | c.7637T>C (p.Met2546Thr) c.7634T>C (p.Met2545Thr) c.1089T>C n.7720T>C | ClinVar gnomAD v4 |
19 | g.38502529T>G | CA405671421 | RYR1 | c.7637T>G (p.Met2546Arg) c.7634T>G (p.Met2545Arg) c.1089T>G n.7720T>G | |
19 | g.38502537_38502542dup | CA069900 | RYR1 | c.7645_7650dup (p.Leu2550_Asn2551insAlaLeu) c.7642_7647dup (p.Leu2549_Asn2550insAlaLeu) c.1097_1102dup n.7728_7733dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502530G>A | CA405671425 | RYR1 | c.7638G>A (p.Met2546Ile) c.7635G>A (p.Met2545Ile) c.1090G>A n.7721G>A | gnomAD v4 COSMIC |
19 | g.38502530G>C | CA082519 | RYR1 | c.7638G>C (p.Met2546Ile) c.7635G>C (p.Met2545Ile) c.1090G>C n.7721G>C | |
19 | g.38502530G>T | CA405671422 | RYR1 | c.7638G>T (p.Met2546Ile) c.7635G>T (p.Met2545Ile) c.1090G>T n.7721G>T | gnomAD v4 |
19 | g.38502531G>A | CA405671427 | RYR1 | c.7639G>A (p.Ala2547Thr) c.7636G>A (p.Ala2546Thr) c.1091G>A n.7722G>A | dbSNP gnomAD v4 |
19 | g.38502531G>C | CA405671430 | RYR1 | c.7639G>C (p.Ala2547Pro) c.7636G>C (p.Ala2546Pro) c.1091G>C n.7722G>C | |
19 | g.38502531G= | CA2335053801 | RYR1 | c.7639G= (p.Ala2547=) c.7636G= (p.Ala2546=) c.1091G= n.7722G= | |
19 | g.38502531G>T | CA308111849 | RYR1 | c.7639G>T (p.Ala2547Ser) c.7636G>T (p.Ala2546Ser) c.1091G>T n.7722G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502531_38502532insTGGCGC | CA082520 | RYR1 | c.7639_7640insTGGCGC (p.Ala2547delinsValAlaPro) c.7636_7637insTGGCGC (p.Ala2546delinsValAlaPro) c.1091_1092insTGGCGC n.7722_7723insTGGCGC | |
19 | g.38502532C>A | CA405671432 | RYR1 | c.7640C>A (p.Ala2547Glu) c.7637C>A (p.Ala2546Glu) c.1092C>A n.7723C>A | |
19 | g.38502532C= | CA2335053804 | RYR1 | c.7640C= (p.Ala2547=) c.7637C= (p.Ala2546=) c.1092C= n.7723C= | |
19 | g.38502532C>G | CA405671434 | RYR1 | c.7640C>G (p.Ala2547Gly) c.7637C>G (p.Ala2546Gly) c.1092C>G n.7723C>G | |
19 | g.38502532C>T | CA069906 | RYR1 | c.7640C>T (p.Ala2547Val) c.7637C>T (p.Ala2546Val) c.1092C>T n.7723C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502533G>A | CA507243703 | RYR1 | c.7641G>A (p.Ala2547=) c.7638G>A (p.Ala2546=) c.1093G>A n.7724G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502533G>C | CA507243704 | RYR1 | c.7641G>C (p.Ala2547=) c.7638G>C (p.Ala2546=) c.1093G>C n.7724G>C | ClinVar dbSNP gnomAD v4 |
19 | g.38502533G= | CA2335053809 | RYR1 | c.7641G= (p.Ala2547=) c.7638G= (p.Ala2546=) c.1093G= n.7724G= | |
19 | g.38502533G>T | CA507243705 | RYR1 | c.7641G>T (p.Ala2547=) c.7638G>T (p.Ala2546=) c.1093G>T n.7724G>T | gnomAD v4 |
19 | g.38502534C>A | CA405671437 | RYR1 | c.7642C>A (p.Leu2548Met) c.7639C>A (p.Leu2547Met) c.1094C>A n.7725C>A | gnomAD v4 |
19 | g.38502534C= | CA2335053811 | RYR1 | c.7642C= (p.Leu2548=) c.7639C= (p.Leu2547=) c.1094C= n.7725C= | |
19 | g.38502534C>G | CA405671438 | RYR1 | c.7642C>G (p.Leu2548Val) c.7639C>G (p.Leu2547Val) c.1094C>G n.7725C>G | |
19 | g.38502534C>T | CA507243706 | RYR1 | c.7642C>T (p.Leu2548=) c.7639C>T (p.Leu2547=) c.1094C>T n.7725C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502535T>A | CA405671441 | RYR1 | c.7643T>A (p.Leu2548Gln) c.7640T>A (p.Leu2547Gln) c.1095T>A n.7726T>A | |
19 | g.38502535T>C | CA405671442 | RYR1 | c.7643T>C (p.Leu2548Pro) c.7640T>C (p.Leu2547Pro) c.1095T>C n.7726T>C | |
19 | g.38502535T>G | CA405671446 | RYR1 | c.7643T>G (p.Leu2548Arg) c.7640T>G (p.Leu2547Arg) c.1095T>G n.7726T>G | |
19 | g.38502536G>A | CA507243707 | RYR1 | c.7644G>A (p.Leu2548=) c.7641G>A (p.Leu2547=) c.1096G>A n.7727G>A | |
19 | g.38502536G>C | CA507243708 | RYR1 | c.7644G>C (p.Leu2548=) c.7641G>C (p.Leu2547=) c.1096G>C n.7727G>C | |
19 | g.38502536G>T | CA507243709 | RYR1 | c.7644G>T (p.Leu2548=) c.7641G>T (p.Leu2547=) c.1096G>T n.7727G>T | gnomAD v4 |
19 | g.38502537G>A | CA405671450 | RYR1 | c.7645G>A (p.Ala2549Thr) c.7642G>A (p.Ala2548Thr) c.1097G>A n.7728G>A | COSMIC |
19 | g.38502537G>C | CA405671453 | RYR1 | c.7645G>C (p.Ala2549Pro) c.7642G>C (p.Ala2548Pro) c.1097G>C n.7728G>C | gnomAD v4 |
19 | g.38502537G>T | CA405671447 | RYR1 | c.7645G>T (p.Ala2549Ser) c.7642G>T (p.Ala2548Ser) c.1097G>T n.7728G>T | gnomAD v4 |
19 | g.38502538C>A | CA405671454 | RYR1 | c.7646C>A (p.Ala2549Glu) c.7643C>A (p.Ala2548Glu) c.1098C>A n.7729C>A | gnomAD v4 |
19 | g.38502538C= | CA2335053814 | RYR1 | c.7646C= (p.Ala2549=) c.7643C= (p.Ala2548=) c.1098C= n.7729C= | |
19 | g.38502538C>G | CA405671457 | RYR1 | c.7646C>G (p.Ala2549Gly) c.7643C>G (p.Ala2548Gly) c.1098C>G n.7729C>G | dbSNP |
19 | g.38502538C>T | CA069910 | RYR1 | c.7646C>T (p.Ala2549Val) c.7643C>T (p.Ala2548Val) c.1098C>T n.7729C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502539G>A | CA069912 | RYR1 | c.7647G>A (p.Ala2549=) c.7644G>A (p.Ala2548=) c.1099G>A n.7730G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502539G>C | CA507243710 | RYR1 | c.7647G>C (p.Ala2549=) c.7644G>C (p.Ala2548=) c.1099G>C n.7730G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502539G= | CA2335053818 | RYR1 | c.7647G= (p.Ala2549=) c.7644G= (p.Ala2548=) c.1099G= n.7730G= | |
19 | g.38502539G>T | CA069916 | RYR1 | c.7647G>T (p.Ala2549=) c.7644G>T (p.Ala2548=) c.1099G>T n.7730G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502540C>A | CA405671458 | RYR1 | c.7648C>A (p.Leu2550Met) c.7645C>A (p.Leu2549Met) c.1100C>A n.7731C>A | |
19 | g.38502540C= | CA2335053820 | RYR1 | c.7648C= (p.Leu2550=) c.7645C= (p.Leu2549=) c.1100C= n.7731C= | |
19 | g.38502540C>G | CA024842 | RYR1 | c.7648C>G (p.Leu2550Val) c.7645C>G (p.Leu2549Val) c.1100C>G n.7731C>G | ClinVar dbSNP |
19 | g.38502540C>T | CA507243711 | RYR1 | c.7648C>T (p.Leu2550=) c.7645C>T (p.Leu2549=) c.1100C>T n.7731C>T | gnomAD v4 |
19 | g.38502541T>A | CA405671461 | RYR1 | c.7649T>A (p.Leu2550Gln) c.7646T>A (p.Leu2549Gln) c.1101T>A n.7732T>A | |
19 | g.38502541T>C | CA405671462 | RYR1 | c.7649T>C (p.Leu2550Pro) c.7646T>C (p.Leu2549Pro) c.1101T>C n.7732T>C | gnomAD v4 |
19 | g.38502541T>G | CA405671465 | RYR1 | c.7649T>G (p.Leu2550Arg) c.7646T>G (p.Leu2549Arg) c.1101T>G n.7732T>G | |
19 | g.38502541_38502542delinsTG | CA2335053823 | RYR1 | c.7649_7650delinsTG (p.Leu2550=) c.7646_7647delinsTG (p.Leu2549=) c.1101_1102delinsTG n.7732_7733delinsTG | |
19 | g.38502542del | CA069919 | RYR1 | c.7650del (p.Asn2551ThrfsTer?) c.7647del (p.Asn2550ThrfsTer?) c.1102del n.7733del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502542G>A | CA069923 | RYR1 | c.7650G>A (p.Leu2550=) c.7647G>A (p.Leu2549=) c.1102G>A n.7733G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502542G>C | CA507243712 | RYR1 | c.7650G>C (p.Leu2550=) c.7647G>C (p.Leu2549=) c.1102G>C n.7733G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502542G= | CA2335053829 | RYR1 | c.7650G= (p.Leu2550=) c.7647G= (p.Leu2549=) c.1102G= n.7733G= | |
19 | g.38502542G>T | CA082522 | RYR1 | c.7650G>T (p.Leu2550=) c.7647G>T (p.Leu2549=) c.1102G>T n.7733G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502543A>C | CA405671473 | RYR1 | c.7651A>C (p.Asn2551His) c.7648A>C (p.Asn2550His) c.1103A>C n.7734A>C | gnomAD v4 |
19 | g.38502543A>G | CA405671475 | RYR1 | c.7651A>G (p.Asn2551Asp) c.7648A>G (p.Asn2550Asp) c.1103A>G n.7734A>G | |
19 | g.38502543A>T | CA405671471 | RYR1 | c.7651A>T (p.Asn2551Tyr) c.7648A>T (p.Asn2550Tyr) c.1103A>T n.7734A>T | |
19 | g.38502543_38502549delinsAACCGCT | CA2335053833 | RYR1 | c.7651_7657delinsAACCGCT (p.Asn2551=) c.7648_7654delinsAACCGCT (p.Asn2550=) c.1103_1109delinsAACCGCT n.7734_7740delinsAACCGCT | |
19 | g.38502544A>C | CA405671479 | RYR1 | c.7652A>C (p.Asn2551Thr) c.7649A>C (p.Asn2550Thr) c.1104A>C n.7735A>C | |
19 | g.38502544A>G | CA405671481 | RYR1 | c.7652A>G (p.Asn2551Ser) c.7649A>G (p.Asn2550Ser) c.1104A>G n.7735A>G | |
19 | g.38502544A>T | CA405671482 | RYR1 | c.7652A>T (p.Asn2551Ile) c.7649A>T (p.Asn2550Ile) c.1104A>T n.7735A>T | |
19 | g.38502547_38502552del | CA891863026 | RYR1 | c.7655_7660del (p.Arg2552_Tyr2553del) c.7652_7657del (p.Arg2551_Tyr2552del) c.1107_1112del n.7738_7743del | ClinVar dbSNP |
19 | g.38502545C>A | CA405671485 | RYR1 | c.7653C>A (p.Asn2551Lys) c.7650C>A (p.Asn2550Lys) c.1105C>A n.7736C>A | |
19 | g.38502545C= | CA2335053844 | RYR1 | c.7653C= (p.Asn2551=) c.7650C= (p.Asn2550=) c.1105C= n.7736C= | |
19 | g.38502545C>G | CA405671488 | RYR1 | c.7653C>G (p.Asn2551Lys) c.7650C>G (p.Asn2550Lys) c.1105C>G n.7736C>G | |
19 | g.38502545C>T | CA069925 | RYR1 | c.7653C>T (p.Asn2551=) c.7650C>T (p.Asn2550=) c.1105C>T n.7736C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502546C>A | CA405671496 | RYR1 | c.7654C>A (p.Arg2552Ser) c.7651C>A (p.Arg2551Ser) c.1106C>A n.7737C>A | gnomAD v4 |
19 | g.38502546C= | CA2335053851 | RYR1 | c.7654C= (p.Arg2552=) c.7651C= (p.Arg2551=) c.1106C= n.7737C= | |
19 | g.38502546C>G | CA405671494 | RYR1 | c.7654C>G (p.Arg2552Gly) c.7651C>G (p.Arg2551Gly) c.1106C>G n.7737C>G | |
19 | g.38502546C>T | CA069928 | RYR1 | c.7654C>T (p.Arg2552Cys) c.7651C>T (p.Arg2551Cys) c.1106C>T n.7737C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38502546_38502549dup | CA2335053850 | RYR1 | c.7654_7657dup (p.Tyr2553SerfsTer?) c.7651_7654dup (p.Tyr2552SerfsTer?) c.1106_1109dup n.7737_7740dup | dbSNP |
19 | g.38502547G>A | CA405671498 | RYR1 | c.7655G>A (p.Arg2552His) c.7652G>A (p.Arg2551His) c.1107G>A n.7738G>A | ClinVar gnomAD v4 |
19 | g.38502547G>C | CA405671500 | RYR1 | c.7655G>C (p.Arg2552Pro) c.7652G>C (p.Arg2551Pro) c.1107G>C n.7738G>C | |
19 | g.38502547G>T | CA405671501 | RYR1 | c.7655G>T (p.Arg2552Leu) c.7652G>T (p.Arg2551Leu) c.1107G>T n.7738G>T | gnomAD v4 |
19 | g.38502548C>A | CA507243713 | RYR1 | c.7656C>A (p.Arg2552=) c.7653C>A (p.Arg2551=) c.1108C>A n.7739C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502548C= | CA2335053853 | RYR1 | c.7656C= (p.Arg2552=) c.7653C= (p.Arg2551=) c.1108C= n.7739C= | |
19 | g.38502548C>G | CA507243714 | RYR1 | c.7656C>G (p.Arg2552=) c.7653C>G (p.Arg2551=) c.1108C>G n.7739C>G | |
19 | g.38502548C>T | CA082525 | RYR1 | c.7656C>T (p.Arg2552=) c.7653C>T (p.Arg2551=) c.1108C>T n.7739C>T | gnomAD v4 |
19 | g.38502549T>A | CA405671503 | RYR1 | c.7657T>A (p.Tyr2553Asn) c.7654T>A (p.Tyr2552Asn) c.1109T>A n.7740T>A | |
19 | g.38502549T>C | CA405671505 | RYR1 | c.7657T>C (p.Tyr2553His) c.7654T>C (p.Tyr2552His) c.1109T>C n.7740T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502549T>G | CA405671508 | RYR1 | c.7657T>G (p.Tyr2553Asp) c.7654T>G (p.Tyr2552Asp) c.1109T>G n.7740T>G | |
19 | g.38502549T= | CA2335053854 | RYR1 | c.7657T= (p.Tyr2553=) c.7654T= (p.Tyr2552=) c.1109T= n.7740T= | |
19 | g.38502550A>C | CA405671516 | RYR1 | c.7658A>C (p.Tyr2553Ser) c.7655A>C (p.Tyr2552Ser) c.1110A>C n.7741A>C | COSMIC |
19 | g.38502550A>G | CA405671513 | RYR1 | c.7658A>G (p.Tyr2553Cys) c.7655A>G (p.Tyr2552Cys) c.1110A>G n.7741A>G | |
19 | g.38502550A>T | CA405671511 | RYR1 | c.7658A>T (p.Tyr2553Phe) c.7655A>T (p.Tyr2552Phe) c.1110A>T n.7741A>T | |
19 | g.38502551C>A | CA082498 | RYR1 | c.7659C>A (p.Tyr2553Ter) c.7656C>A (p.Tyr2552Ter) c.1111C>A n.7742C>A | |
19 | g.38502551C= | CA2335053857 | RYR1 | c.7659C= (p.Tyr2553=) c.7656C= (p.Tyr2552=) c.1111C= n.7742C= | |
19 | g.38502551C>G | CA405671518 | RYR1 | c.7659C>G (p.Tyr2553Ter) c.7656C>G (p.Tyr2552Ter) c.1111C>G n.7742C>G | |
19 | g.38502551C>T | CA069929 | RYR1 | c.7659C>T (p.Tyr2553=) c.7656C>T (p.Tyr2552=) c.1111C>T n.7742C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502552C>A | CA405671521 | RYR1 | c.7660C>A (p.Leu2554Met) c.7657C>A (p.Leu2553Met) c.1112C>A n.7743C>A | gnomAD v4 |
19 | g.38502552C= | CA2335053861 | RYR1 | c.7660C= (p.Leu2554=) c.7657C= (p.Leu2553=) c.1112C= n.7743C= | |
19 | g.38502552C>G | CA405671524 | RYR1 | c.7660C>G (p.Leu2554Val) c.7657C>G (p.Leu2553Val) c.1112C>G n.7743C>G | gnomAD v4 |
19 | g.38502552C>T | CA507243715 | RYR1 | c.7660C>T (p.Leu2554=) c.7657C>T (p.Leu2553=) c.1112C>T n.7743C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502553T>A | CA405671525 | RYR1 | c.7661T>A (p.Leu2554Gln) c.7658T>A (p.Leu2553Gln) c.1113T>A n.7744T>A | |
19 | g.38502553T>C | CA405671527 | RYR1 | c.7661T>C (p.Leu2554Pro) c.7658T>C (p.Leu2553Pro) c.1113T>C n.7744T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502553T>G | CA405671529 | RYR1 | c.7661T>G (p.Leu2554Arg) c.7658T>G (p.Leu2553Arg) c.1113T>G n.7744T>G | |
19 | g.38502553T= | CA2335053864 | RYR1 | c.7661T= (p.Leu2554=) c.7658T= (p.Leu2553=) c.1113T= n.7744T= | |
19 | g.38502554G>A | CA507243716 | RYR1 | c.7662G>A (p.Leu2554=) c.7659G>A (p.Leu2553=) c.1114G>A n.7745G>A | ClinVar dbSNP |
19 | g.38502554G>C | CA507243717 | RYR1 | c.7662G>C (p.Leu2554=) c.7659G>C (p.Leu2553=) c.1114G>C n.7745G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502554G= | CA2335053867 | RYR1 | c.7662G= (p.Leu2554=) c.7659G= (p.Leu2553=) c.1114G= n.7745G= | |
19 | g.38502554G>T | CA507243718 | RYR1 | c.7662G>T (p.Leu2554=) c.7659G>T (p.Leu2553=) c.1114G>T n.7745G>T | gnomAD v4 |
19 | g.38502555T>A | CA405671531 | RYR1 | c.7663T>A (p.Cys2555Ser) c.7660T>A (p.Cys2554Ser) c.1115T>A n.7746T>A | |
19 | g.38502555T>C | CA405671535 | RYR1 | c.7663T>C (p.Cys2555Arg) c.7660T>C (p.Cys2554Arg) c.1115T>C n.7746T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502555T>G | CA405671533 | RYR1 | c.7663T>G (p.Cys2555Gly) c.7660T>G (p.Cys2554Gly) c.1115T>G n.7746T>G | ClinVar dbSNP |
19 | g.38502555T= | CA2335053873 | RYR1 | c.7663T= (p.Cys2555=) c.7660T= (p.Cys2554=) c.1115T= n.7746T= | |
19 | g.38502556G>A | CA405671537 | RYR1 | c.7664G>A (p.Cys2555Tyr) c.7661G>A (p.Cys2554Tyr) c.1116G>A n.7747G>A | |
19 | g.38502556G>C | CA405671538 | RYR1 | c.7664G>C (p.Cys2555Ser) c.7661G>C (p.Cys2554Ser) c.1116G>C n.7747G>C | |
19 | g.38502556G= | CA2335053877 | RYR1 | c.7664G= (p.Cys2555=) c.7661G= (p.Cys2554=) c.1116G= n.7747G= | |
19 | g.38502556G>T | CA405671540 | RYR1 | c.7664G>T (p.Cys2555Phe) c.7661G>T (p.Cys2554Phe) c.1116G>T n.7747G>T | dbSNP gnomAD v4 |
19 | g.38502557C>A | CA405671542 | RYR1 | c.7665C>A (p.Cys2555Ter) c.7662C>A (p.Cys2554Ter) c.1117C>A n.7748C>A | |
19 | g.38502557C= | CA2335053880 | RYR1 | c.7665C= (p.Cys2555=) c.7662C= (p.Cys2554=) c.1117C= n.7748C= | |
19 | g.38502557C>G | CA405671545 | RYR1 | c.7665C>G (p.Cys2555Trp) c.7662C>G (p.Cys2554Trp) c.1117C>G n.7748C>G | gnomAD v4 |
19 | g.38502557C>T | CA507243719 | RYR1 | c.7665C>T (p.Cys2555=) c.7662C>T (p.Cys2554=) c.1117C>T n.7748C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502558C>A | CA405671546 | RYR1 | c.7666C>A (p.Leu2556Met) c.7663C>A (p.Leu2555Met) c.1118C>A n.7749C>A | |
19 | g.38502558C= | CA2335053882 | RYR1 | c.7666C= (p.Leu2556=) c.7663C= (p.Leu2555=) c.1118C= n.7749C= | |
19 | g.38502558C>G | CA405671547 | RYR1 | c.7666C>G (p.Leu2556Val) c.7663C>G (p.Leu2555Val) c.1118C>G n.7749C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502558C>T | CA069936 | RYR1 | c.7666C>T (p.Leu2556=) c.7663C>T (p.Leu2555=) c.1118C>T n.7749C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502559T>A | CA405671548 | RYR1 | c.7667T>A (p.Leu2556Gln) c.7664T>A (p.Leu2555Gln) c.1119T>A n.7750T>A | |
19 | g.38502559T>C | CA405671549 | RYR1 | c.7667T>C (p.Leu2556Pro) c.7664T>C (p.Leu2555Pro) c.1119T>C n.7750T>C | |
19 | g.38502559T>G | CA405671550 | RYR1 | c.7667T>G (p.Leu2556Arg) c.7664T>G (p.Leu2555Arg) c.1119T>G n.7750T>G | |
19 | g.38502560G>A | CA069940 | RYR1 | c.7668G>A (p.Leu2556=) c.7665G>A (p.Leu2555=) c.1120G>A n.7751G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502560G>C | CA507243721 | RYR1 | c.7668G>C (p.Leu2556=) c.7665G>C (p.Leu2555=) c.1120G>C n.7751G>C | |
19 | g.38502560G= | CA2335053885 | RYR1 | c.7668G= (p.Leu2556=) c.7665G= (p.Leu2555=) c.1120G= n.7751G= | |
19 | g.38502560G>T | CA507243720 | RYR1 | c.7668G>T (p.Leu2556=) c.7665G>T (p.Leu2555=) c.1120G>T n.7751G>T | ClinVar dbSNP gnomAD v4 |
19 | g.38502561G>A | CA405671551 | RYR1 | c.7669G>A (p.Ala2557Thr) c.7666G>A (p.Ala2556Thr) c.1121G>A n.7752G>A | gnomAD v4 |
19 | g.38502561G>C | CA405671552 | RYR1 | c.7669G>C (p.Ala2557Pro) c.7666G>C (p.Ala2556Pro) c.1121G>C n.7752G>C | |
19 | g.38502561G>T | CA405671553 | RYR1 | c.7669G>T (p.Ala2557Ser) c.7666G>T (p.Ala2556Ser) c.1121G>T n.7752G>T | gnomAD v4 |
19 | g.38502562C>A | CA405671554 | RYR1 | c.7670C>A (p.Ala2557Asp) c.7667C>A (p.Ala2556Asp) c.1122C>A n.7753C>A | dbSNP gnomAD v4 |
19 | g.38502562C= | CA2335053887 | RYR1 | c.7670C= (p.Ala2557=) c.7667C= (p.Ala2556=) c.1122C= n.7753C= | |
19 | g.38502562C>G | CA405671555 | RYR1 | c.7670C>G (p.Ala2557Gly) c.7667C>G (p.Ala2556Gly) c.1122C>G n.7753C>G | |
19 | g.38502562C>T | CA405671556 | RYR1 | c.7670C>T (p.Ala2557Val) c.7667C>T (p.Ala2556Val) c.1122C>T n.7753C>T | ClinVar COSMIC |
19 | g.38502563C>A | CA507243722 | RYR1 | c.7671C>A (p.Ala2557=) c.7668C>A (p.Ala2556=) c.1123C>A n.7754C>A | |
19 | g.38502563C= | CA2335053889 | RYR1 | c.7671C= (p.Ala2557=) c.7668C= (p.Ala2556=) c.1123C= n.7754C= | |
19 | g.38502563C>G | CA507243723 | RYR1 | c.7671C>G (p.Ala2557=) c.7668C>G (p.Ala2556=) c.1123C>G n.7754C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502563C>T | CA507243724 | RYR1 | c.7671C>T (p.Ala2557=) c.7668C>T (p.Ala2556=) c.1123C>T n.7754C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502564G>A | CA069952 | RYR1 | c.7672G>A (p.Val2558Met) c.7669G>A (p.Val2557Met) c.1124G>A n.7755G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502564G>C | CA405671558 | RYR1 | c.7672G>C (p.Val2558Leu) c.7669G>C (p.Val2557Leu) c.1124G>C n.7755G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502564G= | CA2335053893 | RYR1 | c.7672G= (p.Val2558=) c.7669G= (p.Val2557=) c.1124G= n.7755G= | |
19 | g.38502564G>T | CA405671559 | RYR1 | c.7672G>T (p.Val2558Leu) c.7669G>T (p.Val2557Leu) c.1124G>T n.7755G>T | ClinVar COSMIC |
19 | g.38502565T>A | CA405671562 | RYR1 | c.7673T>A (p.Val2558Glu) c.7670T>A (p.Val2557Glu) c.1125T>A n.7756T>A | |
19 | g.38502565T>C | CA069957 | RYR1 | c.7673T>C (p.Val2558Ala) c.7670T>C (p.Val2557Ala) c.1125T>C n.7756T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502565T>G | CA405671564 | RYR1 | c.7673T>G (p.Val2558Gly) c.7670T>G (p.Val2557Gly) c.1125T>G n.7756T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502565T= | CA2335053899 | RYR1 | c.7673T= (p.Val2558=) c.7670T= (p.Val2557=) c.1125T= n.7756T= | |
19 | g.38502566G>A | CA507243725 | RYR1 | c.7674G>A (p.Val2558=) c.7671G>A (p.Val2557=) c.1126G>A n.7757G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502566G>C | CA507243726 | RYR1 | c.7674G>C (p.Val2558=) c.7671G>C (p.Val2557=) c.1126G>C n.7757G>C | |
19 | g.38502566G= | CA2335053900 | RYR1 | c.7674G= (p.Val2558=) c.7671G= (p.Val2557=) c.1126G= n.7757G= | |
19 | g.38502566G>T | CA507243727 | RYR1 | c.7674G>T (p.Val2558=) c.7671G>T (p.Val2557=) c.1126G>T n.7757G>T | gnomAD v4 |
19 | g.38502567C>A | CA405671567 | RYR1 | c.7675C>A (p.Leu2559Met) c.7672C>A (p.Leu2558Met) c.1127C>A n.7758C>A | |
19 | g.38502567C>G | CA405671570 | RYR1 | c.7675C>G (p.Leu2559Val) c.7672C>G (p.Leu2558Val) c.1127C>G n.7758C>G | dbSNP |
19 | g.38502567C>T | CA507243728 | RYR1 | c.7675C>T (p.Leu2559=) c.7672C>T (p.Leu2558=) c.1127C>T n.7758C>T | gnomAD v4 |
19 | g.38502568T>A | CA069960 | RYR1 | c.7676T>A (p.Leu2559Gln) c.7673T>A (p.Leu2558Gln) c.1128T>A n.7759T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502568T>C | CA082531 | RYR1 | c.7676T>C (p.Leu2559Pro) c.7673T>C (p.Leu2558Pro) c.1128T>C n.7759T>C | |
19 | g.38502568T>G | CA405671572 | RYR1 | c.7676T>G (p.Leu2559Arg) c.7673T>G (p.Leu2558Arg) c.1128T>G n.7759T>G | dbSNP |
19 | g.38502568T= | CA2335053904 | RYR1 | c.7676T= (p.Leu2559=) c.7673T= (p.Leu2558=) c.1128T= n.7759T= | |
19 | g.38502571_38502589del | CA2584900595 | RYR1 | c.7679_7697del (p.Pro2560ArgfsTer?) c.7676_7694del (p.Pro2559ArgfsTer?) c.1131_1149del n.7762_7780del | gnomAD v4 |
19 | g.38502569G>A | CA507243729 | RYR1 | c.7677G>A (p.Leu2559=) c.7674G>A (p.Leu2558=) c.1129G>A n.7760G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38502569G>C | CA507243730 | RYR1 | c.7677G>C (p.Leu2559=) c.7674G>C (p.Leu2558=) c.1129G>C n.7760G>C | |
19 | g.38502569G= | CA2335053909 | RYR1 | c.7677G= (p.Leu2559=) c.7674G= (p.Leu2558=) c.1129G= n.7760G= | |
19 | g.38502569G>T | CA507243731 | RYR1 | c.7677G>T (p.Leu2559=) c.7674G>T (p.Leu2558=) c.1129G>T n.7760G>T | gnomAD v4 |
19 | g.38502570C>A | CA405671573 | RYR1 | c.7678C>A (p.Pro2560Thr) c.7675C>A (p.Pro2559Thr) c.1130C>A n.7761C>A | |
19 | g.38502570C= | CA2335053911 | RYR1 | c.7678C= (p.Pro2560=) c.7675C= (p.Pro2559=) c.1130C= n.7761C= | |
19 | g.38502570C>G | CA405671576 | RYR1 | c.7678C>G (p.Pro2560Ala) c.7675C>G (p.Pro2559Ala) c.1130C>G n.7761C>G | |
19 | g.38502570C>T | CA069964 | RYR1 | c.7678C>T (p.Pro2560Ser) c.7675C>T (p.Pro2559Ser) c.1130C>T n.7761C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502571C>A | CA405671582 | RYR1 | c.7679C>A (p.Pro2560Gln) c.7676C>A (p.Pro2559Gln) c.1131C>A n.7762C>A | |
19 | g.38502571C= | CA2335053914 | RYR1 | c.7679C= (p.Pro2560=) c.7676C= (p.Pro2559=) c.1131C= n.7762C= | |
19 | g.38502571C>G | CA405671583 | RYR1 | c.7679C>G (p.Pro2560Arg) c.7676C>G (p.Pro2559Arg) c.1131C>G n.7762C>G | ClinVar dbSNP gnomAD v4 |
19 | g.38502571C>T | CA405671586 | RYR1 | c.7679C>T (p.Pro2560Leu) c.7676C>T (p.Pro2559Leu) c.1131C>T n.7762C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.38502572G>A | CA069972 | RYR1 | c.7680G>A (p.Pro2560=) c.7677G>A (p.Pro2559=) c.1132G>A n.7763G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502572G>C | CA507243732 | RYR1 | c.7680G>C (p.Pro2560=) c.7677G>C (p.Pro2559=) c.1132G>C n.7763G>C | |
19 | g.38502572G= | CA2335053920 | RYR1 | c.7680G= (p.Pro2560=) c.7677G= (p.Pro2559=) c.1132G= n.7763G= | |
19 | g.38502572G>T | CA069978 | RYR1 | c.7680G>T (p.Pro2560=) c.7677G>T (p.Pro2559=) c.1132G>T n.7763G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502573C>A | CA405671593 | RYR1 | c.7681C>A (p.Leu2561Ile) c.7678C>A (p.Leu2560Ile) c.1133C>A n.7764C>A | |
19 | g.38502573C= | CA2335053925 | RYR1 | c.7681C= (p.Leu2561=) c.7678C= (p.Leu2560=) c.1133C= n.7764C= | |
19 | g.38502573C>G | CA405671590 | RYR1 | c.7681C>G (p.Leu2561Val) c.7678C>G (p.Leu2560Val) c.1133C>G n.7764C>G | gnomAD v4 |
19 | g.38502573C>T | CA082533 | RYR1 | c.7681C>T (p.Leu2561Phe) c.7678C>T (p.Leu2560Phe) c.1133C>T n.7764C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502574T>A | CA405671595 | RYR1 | c.7682T>A (p.Leu2561His) c.7679T>A (p.Leu2560His) c.1134T>A n.7765T>A | |
19 | g.38502574T>C | CA405671597 | RYR1 | c.7682T>C (p.Leu2561Pro) c.7679T>C (p.Leu2560Pro) c.1134T>C n.7765T>C | |
19 | g.38502574T>G | CA405671600 | RYR1 | c.7682T>G (p.Leu2561Arg) c.7679T>G (p.Leu2560Arg) c.1134T>G n.7765T>G | |
19 | g.38502575C>A | CA507243733 | RYR1 | c.7683C>A (p.Leu2561=) c.7680C>A (p.Leu2560=) c.1135C>A n.7766C>A | |
19 | g.38502575C= | CA2335053931 | RYR1 | c.7683C= (p.Leu2561=) c.7680C= (p.Leu2560=) c.1135C= n.7766C= | |
19 | g.38502575C>G | CA507243734 | RYR1 | c.7683C>G (p.Leu2561=) c.7680C>G (p.Leu2560=) c.1135C>G n.7766C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502575C>T | CA082535 | RYR1 | c.7683C>T (p.Leu2561=) c.7680C>T (p.Leu2560=) c.1135C>T n.7766C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502576A= | CA2335053936 | RYR1 | c.7684A= (p.Ile2562=) c.7681A= (p.Ile2561=) c.1136A= n.7767A= | |
19 | g.38502576A>C | CA405671603 | RYR1 | c.7684A>C (p.Ile2562Leu) c.7681A>C (p.Ile2561Leu) c.1136A>C n.7767A>C | |
19 | g.38502576A>G | CA405671604 | RYR1 | c.7684A>G (p.Ile2562Val) c.7681A>G (p.Ile2561Val) c.1136A>G n.7767A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502576A>T | CA405671605 | RYR1 | c.7684A>T (p.Ile2562Phe) c.7681A>T (p.Ile2561Phe) c.1136A>T n.7767A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502577T>A | CA405671606 | RYR1 | c.7685T>A (p.Ile2562Asn) c.7682T>A (p.Ile2561Asn) c.1137T>A n.7768T>A | |
19 | g.38502577T>C | CA069984 | RYR1 | c.7685T>C (p.Ile2562Thr) c.7682T>C (p.Ile2561Thr) c.1137T>C n.7768T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502577T>G | CA405671608 | RYR1 | c.7685T>G (p.Ile2562Ser) c.7682T>G (p.Ile2561Ser) c.1137T>G n.7768T>G | |
19 | g.38502577T= | CA2335053942 | RYR1 | c.7685T= (p.Ile2562=) c.7682T= (p.Ile2561=) c.1137T= n.7768T= | |
19 | g.38502578C>A | CA507243735 | RYR1 | c.7686C>A (p.Ile2562=) c.7683C>A (p.Ile2561=) c.1138C>A n.7769C>A | |
19 | g.38502578C= | CA2335053947 | RYR1 | c.7686C= (p.Ile2562=) c.7683C= (p.Ile2561=) c.1138C= n.7769C= | |
19 | g.38502578C>G | CA405671612 | RYR1 | c.7686C>G (p.Ile2562Met) c.7683C>G (p.Ile2561Met) c.1138C>G n.7769C>G | |
19 | g.38502578C>T | CA069989 | RYR1 | c.7686C>T (p.Ile2562=) c.7683C>T (p.Ile2561=) c.1138C>T n.7769C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502579A= | CA2335053951 | RYR1 | c.7687A= (p.Thr2563=) c.7684A= (p.Thr2562=) c.1139A= n.7770A= | |
19 | g.38502579A>C | CA405671614 | RYR1 | c.7687A>C (p.Thr2563Pro) c.7684A>C (p.Thr2562Pro) c.1139A>C n.7770A>C | |
19 | g.38502579A>G | CA405671617 | RYR1 | c.7687A>G (p.Thr2563Ala) c.7684A>G (p.Thr2562Ala) c.1139A>G n.7770A>G | dbSNP |
19 | g.38502579A>T | CA405671616 | RYR1 | c.7687A>T (p.Thr2563Ser) c.7684A>T (p.Thr2562Ser) c.1139A>T n.7770A>T | |
19 | g.38502580C>A | CA405671618 | RYR1 | c.7688C>A (p.Thr2563Asn) c.7685C>A (p.Thr2562Asn) c.1140C>A n.7771C>A | |
19 | g.38502580C>G | CA405671621 | RYR1 | c.7688C>G (p.Thr2563Ser) c.7685C>G (p.Thr2562Ser) c.1140C>G n.7771C>G | |
19 | g.38502580C>T | CA405671620 | RYR1 | c.7688C>T (p.Thr2563Ile) c.7685C>T (p.Thr2562Ile) c.1140C>T n.7771C>T | ClinVar gnomAD v4 |
19 | g.38502581C>A | CA507243736 | RYR1 | c.7689C>A (p.Thr2563=) c.7686C>A (p.Thr2562=) c.1141C>A n.7772C>A | |
19 | g.38502581C= | CA2335053954 | RYR1 | c.7689C= (p.Thr2563=) c.7686C= (p.Thr2562=) c.1141C= n.7772C= | |
19 | g.38502581C>G | CA069992 | RYR1 | c.7689C>G (p.Thr2563=) c.7686C>G (p.Thr2562=) c.1141C>G n.7772C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502581C>T | CA082537 | RYR1 | c.7689C>T (p.Thr2563=) c.7686C>T (p.Thr2562=) c.1141C>T n.7772C>T | |
19 | g.38502582A>C | CA405671625 | RYR1 | c.7690A>C (p.Lys2564Gln) c.7687A>C (p.Lys2563Gln) c.1142A>C n.7773A>C | |
19 | g.38502582A>G | CA405671626 | RYR1 | c.7690A>G (p.Lys2564Glu) c.7687A>G (p.Lys2563Glu) c.1142A>G n.7773A>G | |
19 | g.38502582A>T | CA405671629 | RYR1 | c.7690A>T (p.Lys2564Ter) c.7687A>T (p.Lys2563Ter) c.1142A>T n.7773A>T | |
19 | g.38502583A>C | CA405671632 | RYR1 | c.7691A>C (p.Lys2564Thr) c.7688A>C (p.Lys2563Thr) c.1143A>C n.7774A>C | ClinVar |
19 | g.38502583A>G | CA405671635 | RYR1 | c.7691A>G (p.Lys2564Arg) c.7688A>G (p.Lys2563Arg) c.1143A>G n.7774A>G | |
19 | g.38502583A>T | CA405671638 | RYR1 | c.7691A>T (p.Lys2564Met) c.7688A>T (p.Lys2563Met) c.1143A>T n.7774A>T | |
19 | g.38502584G>A | CA10587319 | RYR1 | c.7692G>A (p.Lys2564=) c.7689G>A (p.Lys2563=) c.1144G>A n.7775G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38502584G>C | CA405671644 | RYR1 | c.7692G>C (p.Lys2564Asn) c.7689G>C (p.Lys2563Asn) c.1144G>C n.7775G>C | ClinVar dbSNP gnomAD v4 |
19 | g.38502584G= | CA2335053962 | RYR1 | c.7692G= (p.Lys2564=) c.7689G= (p.Lys2563=) c.1144G= n.7775G= | |
19 | g.38502584G>T | CA405671646 | RYR1 | c.7692G>T (p.Lys2564Asn) c.7689G>T (p.Lys2563Asn) c.1144G>T n.7775G>T | gnomAD v4 |
19 | g.38502585T>A | CA405671650 | RYR1 | c.7693T>A (p.Cys2565Ser) c.7690T>A (p.Cys2564Ser) c.1145T>A n.7776T>A | gnomAD v4 |
19 | g.38502585T>C | CA405671647 | RYR1 | c.7693T>C (p.Cys2565Arg) c.7690T>C (p.Cys2564Arg) c.1145T>C n.7776T>C | gnomAD v4 |
19 | g.38502585T>G | CA308111979 | RYR1 | c.7693T>G (p.Cys2565Gly) c.7690T>G (p.Cys2564Gly) c.1145T>G n.7776T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502585T= | CA2335053966 | RYR1 | c.7693T= (p.Cys2565=) c.7690T= (p.Cys2564=) c.1145T= n.7776T= | |
19 | g.38502586G>A | CA405671654 | RYR1 | c.7694G>A (p.Cys2565Tyr) c.7691G>A (p.Cys2564Tyr) c.1146G>A n.7777G>A | |
19 | g.38502586G>C | CA405671658 | RYR1 | c.7694G>C (p.Cys2565Ser) c.7691G>C (p.Cys2564Ser) c.1146G>C n.7777G>C | |
19 | g.38502586G= | CA2335053969 | RYR1 | c.7694G= (p.Cys2565=) c.7691G= (p.Cys2564=) c.1146G= n.7777G= | |
19 | g.38502586G>T | CA405671659 | RYR1 | c.7694G>T (p.Cys2565Phe) c.7691G>T (p.Cys2564Phe) c.1146G>T n.7777G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502587T>A | CA405671663 | RYR1 | c.7695T>A (p.Cys2565Ter) c.7692T>A (p.Cys2564Ter) c.1147T>A n.7778T>A | |
19 | g.38502587T>C | CA507243737 | RYR1 | c.7695T>C (p.Cys2565=) c.7692T>C (p.Cys2564=) c.1147T>C n.7778T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502587T>G | CA070001 | RYR1 | c.7695T>G (p.Cys2565Trp) c.7692T>G (p.Cys2564Trp) c.1147T>G n.7778T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502587T= | CA2335053973 | RYR1 | c.7695T= (p.Cys2565=) c.7692T= (p.Cys2564=) c.1147T= n.7778T= | |
19 | g.38502588G>A | CA405671664 | RYR1 | c.7696G>A (p.Ala2566Thr) c.7693G>A (p.Ala2565Thr) c.1148G>A n.7779G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38502588G>C | CA405671666 | RYR1 | c.7696G>C (p.Ala2566Pro) c.7693G>C (p.Ala2565Pro) c.1148G>C n.7779G>C | |
19 | g.38502588G= | CA2335053980 | RYR1 | c.7696G= (p.Ala2566=) c.7693G= (p.Ala2565=) c.1148G= n.7779G= | |
19 | g.38502588G>T | CA070006 | RYR1 | c.7696G>T (p.Ala2566Ser) c.7693G>T (p.Ala2565Ser) c.1148G>T n.7779G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502589C>A | CA405671668 | RYR1 | c.7697C>A (p.Ala2566Glu) c.7694C>A (p.Ala2565Glu) c.1149C>A n.7780C>A | |
19 | g.38502589C= | CA2335053981 | RYR1 | c.7697C= (p.Ala2566=) c.7694C= (p.Ala2565=) c.1149C= n.7780C= | |
19 | g.38502589C>G | CA405671670 | RYR1 | c.7697C>G (p.Ala2566Gly) c.7694C>G (p.Ala2565Gly) c.1149C>G n.7780C>G | |
19 | g.38502589C>T | CA405671672 | RYR1 | c.7697C>T (p.Ala2566Val) c.7694C>T (p.Ala2565Val) c.1149C>T n.7780C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.38502590G>A | CA507243738 | RYR1 | c.7698G>A (p.Ala2566=) c.7695G>A (p.Ala2565=) c.1150G>A n.7781G>A | dbSNP gnomAD v4 COSMIC |
19 | g.38502590G>C | CA070009 | RYR1 | c.7698G>C (p.Ala2566=) c.7695G>C (p.Ala2565=) c.1150G>C n.7781G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502590G= | CA2335053985 | RYR1 | c.7698G= (p.Ala2566=) c.7695G= (p.Ala2565=) c.1150G= n.7781G= | |
19 | g.38502590G>T | CA507243739 | RYR1 | c.7698G>T (p.Ala2566=) c.7695G>T (p.Ala2565=) c.1150G>T n.7781G>T | gnomAD v4 |
19 | g.38502591C>A | CA405671675 | RYR1 | c.7699C>A (p.Pro2567Thr) c.7696C>A (p.Pro2566Thr) c.1151C>A n.7782C>A | |
19 | g.38502591C= | CA2335053989 | RYR1 | c.7699C= (p.Pro2567=) c.7696C= (p.Pro2566=) c.1151C= n.7782C= | |
19 | g.38502591C>G | CA405671677 | RYR1 | c.7699C>G (p.Pro2567Ala) c.7696C>G (p.Pro2566Ala) c.1151C>G n.7782C>G | ClinVar dbSNP gnomAD v4 |
19 | g.38502591C>T | CA082540 | RYR1 | c.7699C>T (p.Pro2567Ser) c.7696C>T (p.Pro2566Ser) c.1151C>T n.7782C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502592C>A | CA405671680 | RYR1 | c.7700C>A (p.Pro2567Gln) c.7697C>A (p.Pro2566Gln) c.1152C>A n.7783C>A | |
19 | g.38502592C= | CA2335053994 | RYR1 | c.7700C= (p.Pro2567=) c.7697C= (p.Pro2566=) c.1152C= n.7783C= | |
19 | g.38502592C>G | CA405671684 | RYR1 | c.7700C>G (p.Pro2567Arg) c.7697C>G (p.Pro2566Arg) c.1152C>G n.7783C>G | |
19 | g.38502592C>T | CA070018 | RYR1 | c.7700C>T (p.Pro2567Leu) c.7697C>T (p.Pro2566Leu) c.1152C>T n.7783C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502593G>A | CA507243740 | RYR1 | c.7701G>A (p.Pro2567=) c.7698G>A (p.Pro2566=) c.1153G>A n.7784G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38502593G>C | CA082541 | RYR1 | c.7701G>C (p.Pro2567=) c.7698G>C (p.Pro2566=) c.1153G>C n.7784G>C | |
19 | g.38502593G= | CA2335053995 | RYR1 | c.7701G= (p.Pro2567=) c.7698G= (p.Pro2566=) c.1153G= n.7784G= | |
19 | g.38502593G>T | CA507243741 | RYR1 | c.7701G>T (p.Pro2567=) c.7698G>T (p.Pro2566=) c.1153G>T n.7784G>T | gnomAD v4 |
19 | g.38502594C>A | CA405671689 | RYR1 | c.7702C>A (p.Leu2568Ile) c.7699C>A (p.Leu2567Ile) c.1154C>A n.7785C>A | |
19 | g.38502594C= | CA2335053998 | RYR1 | c.7702C= (p.Leu2568=) c.7699C= (p.Leu2567=) c.1154C= n.7785C= | |
19 | g.38502594C>G | CA405671690 | RYR1 | c.7702C>G (p.Leu2568Val) c.7699C>G (p.Leu2567Val) c.1154C>G n.7785C>G | gnomAD v4 |
19 | g.38502594C>T | CA082542 | RYR1 | c.7702C>T (p.Leu2568Phe) c.7699C>T (p.Leu2567Phe) c.1154C>T n.7785C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502595T>A | CA405671691 | RYR1 | c.7703T>A (p.Leu2568His) c.7700T>A (p.Leu2567His) c.1155T>A n.7786T>A | |
19 | g.38502595T>C | CA405671692 | RYR1 | c.7703T>C (p.Leu2568Pro) c.7700T>C (p.Leu2567Pro) c.1155T>C n.7786T>C | gnomAD v4 |
19 | g.38502595T>G | CA308112015 | RYR1 | c.7703T>G (p.Leu2568Arg) c.7700T>G (p.Leu2567Arg) c.1155T>G n.7786T>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502595T= | CA2335054001 | RYR1 | c.7703T= (p.Leu2568=) c.7700T= (p.Leu2567=) c.1155T= n.7786T= | |
19 | g.38502596C>A | CA507243742 | RYR1 | c.7704C>A (p.Leu2568=) c.7701C>A (p.Leu2567=) c.1156C>A n.7787C>A | |
19 | g.38502596C= | CA2335054005 | RYR1 | c.7704C= (p.Leu2568=) c.7701C= (p.Leu2567=) c.1156C= n.7787C= | |
19 | g.38502596C>G | CA507243743 | RYR1 | c.7704C>G (p.Leu2568=) c.7701C>G (p.Leu2567=) c.1156C>G n.7787C>G | dbSNP gnomAD v4 |
19 | g.38502596C>T | CA308112016 | RYR1 | c.7704C>T (p.Leu2568=) c.7701C>T (p.Leu2567=) c.1156C>T n.7787C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502597T>A | CA405671696 | RYR1 | c.7705T>A (p.Phe2569Ile) c.7702T>A (p.Phe2568Ile) c.1157T>A n.7788T>A | |
19 | g.38502597T>C | CA405671697 | RYR1 | c.7705T>C (p.Phe2569Leu) c.7702T>C (p.Phe2568Leu) c.1157T>C n.7788T>C | |
19 | g.38502597T>G | CA405671700 | RYR1 | c.7705T>G (p.Phe2569Val) c.7702T>G (p.Phe2568Val) c.1157T>G n.7788T>G | |
19 | g.38502598_38502599del | CA913015954 | RYR1 | c.7706_7707del (p.Phe2569CysfsTer?) c.7703_7704del (p.Phe2568CysfsTer?) c.1158_1159del n.7789_7790del | |
19 | g.38502598T>A | CA405671704 | RYR1 | c.7706T>A (p.Phe2569Tyr) c.7703T>A (p.Phe2568Tyr) c.1158T>A n.7789T>A | |
19 | g.38502598T>C | CA070023 | RYR1 | c.7706T>C (p.Phe2569Ser) c.7703T>C (p.Phe2568Ser) c.1158T>C n.7789T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502598T>G | CA308112023 | RYR1 | c.7706T>G (p.Phe2569Cys) c.7703T>G (p.Phe2568Cys) c.1158T>G n.7789T>G | ClinVar dbSNP gnomAD v4 |
19 | g.38502598T= | CA2335054009 | RYR1 | c.7706T= (p.Phe2569=) c.7703T= (p.Phe2568=) c.1158T= n.7789T= | |
19 | g.38502599T>A | CA405671708 | RYR1 | c.7707T>A (p.Phe2569Leu) c.7704T>A (p.Phe2568Leu) c.1159T>A n.7790T>A | gnomAD v4 |
19 | g.38502599T>C | CA308112030 | RYR1 | c.7707T>C (p.Phe2569=) c.7704T>C (p.Phe2568=) c.1159T>C n.7790T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502599T>G | CA405671715 | RYR1 | c.7707T>G (p.Phe2569Leu) c.7704T>G (p.Phe2568Leu) c.1159T>G n.7790T>G | |
19 | g.38502599T= | CA2335054012 | RYR1 | c.7707T= (p.Phe2569=) c.7704T= (p.Phe2568=) c.1159T= n.7790T= | |
19 | g.38502600G>A | CA405671720 | RYR1 | c.7708G>A (p.Ala2570Thr) c.7705G>A (p.Ala2569Thr) c.1160G>A n.7791G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502600G>C | CA405671722 | RYR1 | c.7708G>C (p.Ala2570Pro) c.7705G>C (p.Ala2569Pro) c.1160G>C n.7791G>C | ClinVar |
19 | g.38502600G= | CA2335054014 | RYR1 | c.7708G= (p.Ala2570=) c.7705G= (p.Ala2569=) c.1160G= n.7791G= | |
19 | g.38502600G>T | CA405671724 | RYR1 | c.7708G>T (p.Ala2570Ser) c.7705G>T (p.Ala2569Ser) c.1160G>T n.7791G>T | |
19 | g.38502601C>A | CA405671728 | RYR1 | c.7709C>A (p.Ala2570Glu) c.7706C>A (p.Ala2569Glu) c.1161C>A n.7792C>A | |
19 | g.38502601C= | CA2335054019 | RYR1 | c.7709C= (p.Ala2570=) c.7706C= (p.Ala2569=) c.1161C= n.7792C= | |
19 | g.38502601C>G | CA405671730 | RYR1 | c.7709C>G (p.Ala2570Gly) c.7706C>G (p.Ala2569Gly) c.1161C>G n.7792C>G | |
19 | g.38502601C>T | CA070028 | RYR1 | c.7709C>T (p.Ala2570Val) c.7706C>T (p.Ala2569Val) c.1161C>T n.7792C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38502602G>A | CA507243745 | RYR1 | c.7710G>A (p.Ala2570=) c.7707G>A (p.Ala2569=) c.1162G>A n.7793G>A | dbSNP gnomAD v4 |
19 | g.38502602G>C | CA507243747 | RYR1 | c.7710G>C (p.Ala2570=) c.7707G>C (p.Ala2569=) c.1162G>C n.7793G>C | |
19 | g.38502602G= | CA2335054025 | RYR1 | c.7710G= (p.Ala2570=) c.7707G= (p.Ala2569=) c.1162G= n.7793G= | |
19 | g.38502602G>T | CA507243746 | RYR1 | c.7710G>T (p.Ala2570=) c.7707G>T (p.Ala2569=) c.1162G>T n.7793G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502604del | CA2584900596 | RYR1 | c.7712del (p.Gly2571AlafsTer?) c.7709del (p.Gly2570AlafsTer?) c.1164del n.7795del | gnomAD v4 |
19 | g.38502603G>A | CA070031 | RYR1 | c.7711G>A (p.Gly2571Ser) c.7708G>A (p.Gly2570Ser) c.1163G>A n.7794G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38502603G>C | CA405671732 | RYR1 | c.7711G>C (p.Gly2571Arg) c.7708G>C (p.Gly2570Arg) c.1163G>C n.7794G>C | |
19 | g.38502603G= | CA2335054031 | RYR1 | c.7711G= (p.Gly2571=) c.7708G= (p.Gly2570=) c.1163G= n.7794G= | |
19 | g.38502603G>T | CA405671733 | RYR1 | c.7711G>T (p.Gly2571Cys) c.7708G>T (p.Gly2570Cys) c.1163G>T n.7794G>T | gnomAD v4 |
19 | g.38502604G>A | CA070034 | RYR1 | c.7712G>A (p.Gly2571Asp) c.7709G>A (p.Gly2570Asp) c.1164G>A n.7795G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502604G>C | CA070039 | RYR1 | c.7712G>C (p.Gly2571Ala) c.7709G>C (p.Gly2570Ala) c.1164G>C n.7795G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502604G= | CA2335054036 | RYR1 | c.7712G= (p.Gly2571=) c.7709G= (p.Gly2570=) c.1164G= n.7795G= | |
19 | g.38502604G>T | CA405671736 | RYR1 | c.7712G>T (p.Gly2571Val) c.7709G>T (p.Gly2570Val) c.1164G>T n.7795G>T | |
19 | g.38502605C>A | CA507243748 | RYR1 | c.7713C>A (p.Gly2571=) c.7710C>A (p.Gly2570=) c.1165C>A n.7796C>A | dbSNP gnomAD v2 |
19 | g.38502605C= | CA2335054041 | RYR1 | c.7713C= (p.Gly2571=) c.7710C= (p.Gly2570=) c.1165C= n.7796C= | |
19 | g.38502605C>G | CA507243749 | RYR1 | c.7713C>G (p.Gly2571=) c.7710C>G (p.Gly2570=) c.1165C>G n.7796C>G | ClinVar dbSNP gnomAD v4 |
19 | g.38502605C>T | CA507243750 | RYR1 | c.7713C>T (p.Gly2571=) c.7710C>T (p.Gly2570=) c.1165C>T n.7796C>T | ClinVar dbSNP |
19 | g.38502606A>C | CA405671739 | RYR1 | c.7714A>C (p.Thr2572Pro) c.7711A>C (p.Thr2571Pro) c.1166A>C n.7797A>C | |
19 | g.38502606A>G | CA405671743 | RYR1 | c.7714A>G (p.Thr2572Ala) c.7711A>G (p.Thr2571Ala) c.1166A>G n.7797A>G | gnomAD v4 |
19 | g.38502606A>T | CA405671741 | RYR1 | c.7714A>T (p.Thr2572Ser) c.7711A>T (p.Thr2571Ser) c.1166A>T n.7797A>T | |
19 | g.38502607C>A | CA405671746 | RYR1 | c.7715C>A (p.Thr2572Lys) c.7712C>A (p.Thr2571Lys) c.1167C>A n.7798C>A | |
19 | g.38502607C= | CA2335054044 | RYR1 | c.7715C= (p.Thr2572=) c.7712C= (p.Thr2571=) c.1167C= n.7798C= | |
19 | g.38502607C>G | CA405671757 | RYR1 | c.7715C>G (p.Thr2572Arg) c.7712C>G (p.Thr2571Arg) c.1167C>G n.7798C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502607C>T | CA070040 | RYR1 | c.7715C>T (p.Thr2572Ile) c.7712C>T (p.Thr2571Ile) c.1167C>T n.7798C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502608A>C | CA507243751 | RYR1 | c.7716A>C (p.Thr2572=) c.7713A>C (p.Thr2571=) c.1168A>C n.7799A>C | |
19 | g.38502608A>G | CA507243752 | RYR1 | c.7716A>G (p.Thr2572=) c.7713A>G (p.Thr2571=) c.1168A>G n.7799A>G | gnomAD v4 |
19 | g.38502608A>T | CA507243753 | RYR1 | c.7716A>T (p.Thr2572=) c.7713A>T (p.Thr2571=) c.1168A>T n.7799A>T | |
19 | g.38502609G>A | CA070045 | RYR1 | c.7717G>A (p.Glu2573Lys) c.7714G>A (p.Glu2572Lys) c.1169G>A n.7800G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502609G>C | CA405671763 | RYR1 | c.7717G>C (p.Glu2573Gln) c.7714G>C (p.Glu2572Gln) c.1169G>C n.7800G>C | dbSNP gnomAD v4 COSMIC |
19 | g.38502609G= | CA2335054049 | RYR1 | c.7717G= (p.Glu2573=) c.7714G= (p.Glu2572=) c.1169G= n.7800G= | |
19 | g.38502609G>T | CA405671761 | RYR1 | c.7717G>T (p.Glu2573Ter) c.7714G>T (p.Glu2572Ter) c.1169G>T n.7800G>T | gnomAD v4 |
19 | g.38502610A= | CA2335054055 | RYR1 | c.7718A= (p.Glu2573=) c.7715A= (p.Glu2572=) c.1170A= n.7801A= | |
19 | g.38502610A>C | CA405671767 | RYR1 | c.7718A>C (p.Glu2573Ala) c.7715A>C (p.Glu2572Ala) c.1170A>C n.7801A>C | |
19 | g.38502610A>G | CA070050 | RYR1 | c.7718A>G (p.Glu2573Gly) c.7715A>G (p.Glu2572Gly) c.1170A>G n.7801A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502610A>T | CA405671769 | RYR1 | c.7718A>T (p.Glu2573Val) c.7715A>T (p.Glu2572Val) c.1170A>T n.7801A>T | |
19 | g.38502611A>C | CA405671770 | RYR1 | c.7719A>C (p.Glu2573Asp) c.7716A>C (p.Glu2572Asp) c.1171A>C n.7802A>C | |
19 | g.38502611A>G | CA507243754 | RYR1 | c.7719A>G (p.Glu2573=) c.7716A>G (p.Glu2572=) c.1171A>G n.7802A>G | gnomAD v4 |
19 | g.38502611A>T | CA405671772 | RYR1 | c.7719A>T (p.Glu2573Asp) c.7716A>T (p.Glu2572Asp) c.1171A>T n.7802A>T | |
19 | g.38502611_38502660dup | CA2697556551 | RYR1 | c.7719_7768dup (p.Ser2590TyrfsTer?) c.7716_7765dup (p.Ser2589TyrfsTer?) c.1171_1220dup n.7802_7851dup | ClinVar |
19 | g.38502612C>A | CA405671774 | RYR1 | c.7720C>A (p.His2574Asn) c.7717C>A (p.His2573Asn) c.1172C>A n.7803C>A | |
19 | g.38502612C= | CA2335054059 | RYR1 | c.7720C= (p.His2574=) c.7717C= (p.His2573=) c.1172C= n.7803C= | |
19 | g.38502612C>G | CA405671776 | RYR1 | c.7720C>G (p.His2574Asp) c.7717C>G (p.His2573Asp) c.1172C>G n.7803C>G | |
19 | g.38502612C>T | CA070057 | RYR1 | c.7720C>T (p.His2574Tyr) c.7717C>T (p.His2573Tyr) c.1172C>T n.7803C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502613A= | CA2335054061 | RYR1 | c.7721A= (p.His2574=) c.7718A= (p.His2573=) c.1173A= n.7804A= | |
19 | g.38502613A>C | CA405671780 | RYR1 | c.7721A>C (p.His2574Pro) c.7718A>C (p.His2573Pro) c.1173A>C n.7804A>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502613A>G | CA082557 | RYR1 | c.7721A>G (p.His2574Arg) c.7718A>G (p.His2573Arg) c.1173A>G n.7804A>G | gnomAD v4 |
19 | g.38502613A>T | CA405671784 | RYR1 | c.7721A>T (p.His2574Leu) c.7718A>T (p.His2573Leu) c.1173A>T n.7804A>T | |
19 | g.38502614C>A | CA405671786 | RYR1 | c.7722C>A (p.His2574Gln) c.7719C>A (p.His2573Gln) c.1174C>A n.7805C>A | |
19 | g.38502614C= | CA2335054065 | RYR1 | c.7722C= (p.His2574=) c.7719C= (p.His2573=) c.1174C= n.7805C= | |
19 | g.38502614C>G | CA405671789 | RYR1 | c.7722C>G (p.His2574Gln) c.7719C>G (p.His2573Gln) c.1174C>G n.7805C>G | |
19 | g.38502614C>T | CA070061 | RYR1 | c.7722C>T (p.His2574=) c.7719C>T (p.His2573=) c.1174C>T n.7805C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |