Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38565281_38565301dup | CA633066824 | RYR1 | c.1357_1377dup c.1339_1359dup c.12947_12967dup (p.Arg4322_Leu4323insArgValArgArgLeuArgArg) c.12932_12952dup (p.Arg4317_Leu4318insArgValArgArgLeuArgArg) c.12929_12949dup (p.Arg4316_Leu4317insArgValArgArgLeuArgArg) c.12914_12934dup (p.Arg4311_Leu4312insArgValArgArgLeuArgArg) c.12944_12964dup (p.Arg4321_Leu4322insArgValArgArgLeuArgArg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565281_38565301del | CA2584909133 | RYR1 | c.1357_1377del c.1339_1359del c.12947_12967del (p.Arg4316_Arg4322del) c.12932_12952del (p.Arg4311_Arg4317del) c.12929_12949del (p.Arg4310_Arg4316del) c.12914_12934del (p.Arg4305_Arg4311del) c.12944_12964del (p.Arg4315_Arg4321del) | gnomAD v4 |
19 | g.38565294_38565302dup | CA024023 | RYR1 | c.1370_1378dup c.1352_1360dup c.12960_12968dup (p.Leu4323_Thr4324insArgArgLeu) c.12945_12953dup (p.Leu4318_Thr4319insArgArgLeu) c.12942_12950dup (p.Leu4317_Thr4318insArgArgLeu) c.12927_12935dup (p.Leu4312_Thr4313insArgArgLeu) c.12957_12965dup (p.Leu4322_Thr4323insArgArgLeu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565294_38565302del | CA308109404 | RYR1 | c.1370_1378del c.1352_1360del c.12960_12968del (p.Arg4321_Leu4323del) c.12945_12953del (p.Arg4316_Leu4318del) c.12942_12950del (p.Arg4315_Leu4317del) c.12927_12935del (p.Arg4310_Leu4312del) c.12957_12965del (p.Arg4320_Leu4322del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565290_38565301dup | CA2576772101 | RYR1 | c.1366_1377dup c.1348_1359dup c.12956_12967dup (p.Arg4322_Leu4323insArgLeuArgArg) c.12941_12952dup (p.Arg4317_Leu4318insArgLeuArgArg) c.12938_12949dup (p.Arg4316_Leu4317insArgLeuArgArg) c.12923_12934dup (p.Arg4311_Leu4312insArgLeuArgArg) c.12953_12964dup (p.Arg4321_Leu4322insArgLeuArgArg) | gnomAD v4 |
19 | g.38565293_38565320del | CA2584909136 | RYR1 | c.1369_1396del c.1351_1378del c.12959_12986del (p.Leu4320ProfsTer12) c.12944_12971del (p.Leu4315ProfsTer12) c.12941_12968del (p.Leu4314ProfsTer12) c.12926_12953del (p.Leu4309ProfsTer12) c.12956_12983del (p.Leu4319ProfsTer12) | gnomAD v4 |
19 | g.38565288_38565303dup | CA2580097188 | RYR1 | c.1364_1379dup c.1346_1361dup c.12954_12969dup (p.Thr4324AlafsTer?) c.12939_12954dup (p.Thr4319AlafsTer?) c.12936_12951dup (p.Thr4318AlafsTer?) c.12921_12936dup (p.Thr4313AlafsTer?) c.12951_12966dup (p.Thr4323AlafsTer?) | ClinVar |
19 | g.38565296G>A | CA405672741 | RYR1 | c.1372G>A c.1354G>A c.12962G>A (p.Arg4321Gln) c.12947G>A (p.Arg4316Gln) c.12944G>A (p.Arg4315Gln) c.12929G>A (p.Arg4310Gln) c.12959G>A (p.Arg4320Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565296G>C | CA405672743 | RYR1 | c.1372G>C c.1354G>C c.12962G>C (p.Arg4321Pro) c.12947G>C (p.Arg4316Pro) c.12944G>C (p.Arg4315Pro) c.12929G>C (p.Arg4310Pro) c.12959G>C (p.Arg4320Pro) | |
19 | g.38565296G= | CA2335084794 | RYR1 | c.1372G= c.1354G= c.12962G= (p.Arg4321=) c.12947G= (p.Arg4316=) c.12944G= (p.Arg4315=) c.12929G= (p.Arg4310=) c.12959G= (p.Arg4320=) | |
19 | g.38565296G>T | CA405672745 | RYR1 | c.1372G>T c.1354G>T c.12962G>T (p.Arg4321Leu) c.12947G>T (p.Arg4316Leu) c.12944G>T (p.Arg4315Leu) c.12929G>T (p.Arg4310Leu) c.12959G>T (p.Arg4320Leu) | dbSNP |
19 | g.38565297G>A | CA507355707 | RYR1 | c.1373G>A c.1355G>A c.12963G>A (p.Arg4321=) c.12948G>A (p.Arg4316=) c.12945G>A (p.Arg4315=) c.12930G>A (p.Arg4310=) c.12960G>A (p.Arg4320=) | gnomAD v4 |
19 | g.38565297G>C | CA507355708 | RYR1 | c.1373G>C c.1355G>C c.12963G>C (p.Arg4321=) c.12948G>C (p.Arg4316=) c.12945G>C (p.Arg4315=) c.12930G>C (p.Arg4310=) c.12960G>C (p.Arg4320=) | |
19 | g.38565297G>T | CA507355710 | RYR1 | c.1373G>T c.1355G>T c.12963G>T (p.Arg4321=) c.12948G>T (p.Arg4316=) c.12945G>T (p.Arg4315=) c.12930G>T (p.Arg4310=) c.12960G>T (p.Arg4320=) | |
19 | g.38565298C>A | CA507355711 | RYR1 | c.1374C>A c.1356C>A c.12964C>A (p.Arg4322=) c.12949C>A (p.Arg4317=) c.12946C>A (p.Arg4316=) c.12931C>A (p.Arg4311=) c.12961C>A (p.Arg4321=) | gnomAD v4 |
19 | g.38565298C= | CA2335084795 | RYR1 | c.1374C= c.1356C= c.12964C= (p.Arg4322=) c.12949C= (p.Arg4317=) c.12946C= (p.Arg4316=) c.12931C= (p.Arg4311=) c.12961C= (p.Arg4321=) | |
19 | g.38565298C>G | CA405672748 | RYR1 | c.1374C>G c.1356C>G c.12964C>G (p.Arg4322Gly) c.12949C>G (p.Arg4317Gly) c.12946C>G (p.Arg4316Gly) c.12931C>G (p.Arg4311Gly) c.12961C>G (p.Arg4321Gly) | |
19 | g.38565298C>T | CA405672750 | RYR1 | c.1374C>T c.1356C>T c.12964C>T (p.Arg4322Trp) c.12949C>T (p.Arg4317Trp) c.12946C>T (p.Arg4316Trp) c.12931C>T (p.Arg4311Trp) c.12961C>T (p.Arg4321Trp) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565299G>A | CA405672753 | RYR1 | c.1375G>A c.1357G>A c.12965G>A (p.Arg4322Gln) c.12950G>A (p.Arg4317Gln) c.12947G>A (p.Arg4316Gln) c.12932G>A (p.Arg4311Gln) c.12962G>A (p.Arg4321Gln) | |
19 | g.38565299G>C | CA405672754 | RYR1 | c.1375G>C c.1357G>C c.12965G>C (p.Arg4322Pro) c.12950G>C (p.Arg4317Pro) c.12947G>C (p.Arg4316Pro) c.12932G>C (p.Arg4311Pro) c.12962G>C (p.Arg4321Pro) | |
19 | g.38565299G>T | CA405672756 | RYR1 | c.1375G>T c.1357G>T c.12965G>T (p.Arg4322Leu) c.12950G>T (p.Arg4317Leu) c.12947G>T (p.Arg4316Leu) c.12932G>T (p.Arg4311Leu) c.12962G>T (p.Arg4321Leu) | gnomAD v4 |
19 | g.38565300G>A | CA308109416 | RYR1 | c.1376G>A c.1358G>A c.12966G>A (p.Arg4322=) c.12951G>A (p.Arg4317=) c.12948G>A (p.Arg4316=) c.12933G>A (p.Arg4311=) c.12963G>A (p.Arg4321=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565300G>C | CA507355715 | RYR1 | c.1376G>C c.1358G>C c.12966G>C (p.Arg4322=) c.12951G>C (p.Arg4317=) c.12948G>C (p.Arg4316=) c.12933G>C (p.Arg4311=) c.12963G>C (p.Arg4321=) | |
19 | g.38565300G= | CA2335084796 | RYR1 | c.1376G= c.1358G= c.12966G= (p.Arg4322=) c.12951G= (p.Arg4317=) c.12948G= (p.Arg4316=) c.12933G= (p.Arg4311=) c.12963G= (p.Arg4321=) | |
19 | g.38565300G>T | CA507355716 | RYR1 | c.1376G>T c.1358G>T c.12966G>T (p.Arg4322=) c.12951G>T (p.Arg4317=) c.12948G>T (p.Arg4316=) c.12933G>T (p.Arg4311=) c.12963G>T (p.Arg4321=) | |
19 | g.38565300_38565302delinsGCT | CA2335084797 | RYR1 | c.1376_1378delinsGCT c.1358_1360delinsGCT c.12966_12968delinsGCT (p.Arg4322=) c.12951_12953delinsGCT (p.Arg4317=) c.12948_12950delinsGCT (p.Arg4316=) c.12933_12935delinsGCT (p.Arg4311=) c.12963_12965delinsGCT (p.Arg4321=) | |
19 | g.38565301C>A | CA405672763 | RYR1 | c.1377C>A c.1359C>A c.12967C>A (p.Leu4323Ile) c.12952C>A (p.Leu4318Ile) c.12949C>A (p.Leu4317Ile) c.12934C>A (p.Leu4312Ile) c.12964C>A (p.Leu4322Ile) | |
19 | g.38565301C>G | CA405672761 | RYR1 | c.1377C>G c.1359C>G c.12967C>G (p.Leu4323Val) c.12952C>G (p.Leu4318Val) c.12949C>G (p.Leu4317Val) c.12934C>G (p.Leu4312Val) c.12964C>G (p.Leu4322Val) | dbSNP gnomAD v4 |
19 | g.38565301C>T | CA405672760 | RYR1 | c.1377C>T c.1359C>T c.12967C>T (p.Leu4323Phe) c.12952C>T (p.Leu4318Phe) c.12949C>T (p.Leu4317Phe) c.12934C>T (p.Leu4312Phe) c.12964C>T (p.Leu4322Phe) | gnomAD v4 |
19 | g.38565301_38565302del | CA995731612 | RYR1 | c.1377_1378del c.1359_1360del c.12967_12968del (p.Leu4323TyrfsTer?) c.12952_12953del (p.Leu4318TyrfsTer?) c.12949_12950del (p.Leu4317TyrfsTer?) c.12934_12935del (p.Leu4312TyrfsTer?) c.12964_12965del (p.Leu4322TyrfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565302T>A | CA405672765 | RYR1 | c.1378T>A c.1360T>A c.12968T>A (p.Leu4323His) c.12953T>A (p.Leu4318His) c.12950T>A (p.Leu4317His) c.12935T>A (p.Leu4312His) c.12965T>A (p.Leu4322His) | |
19 | g.38565302T>C | CA405672768 | RYR1 | c.1378T>C c.1360T>C c.12968T>C (p.Leu4323Pro) c.12953T>C (p.Leu4318Pro) c.12950T>C (p.Leu4317Pro) c.12935T>C (p.Leu4312Pro) c.12965T>C (p.Leu4322Pro) | gnomAD v4 |
19 | g.38565302T>G | CA405672770 | RYR1 | c.1378T>G c.1360T>G c.12968T>G (p.Leu4323Arg) c.12953T>G (p.Leu4318Arg) c.12950T>G (p.Leu4317Arg) c.12935T>G (p.Leu4312Arg) c.12965T>G (p.Leu4322Arg) | |
19 | g.38565303T>A | CA507355722 | RYR1 | c.1379T>A c.1361T>A c.12969T>A (p.Leu4323=) c.12954T>A (p.Leu4318=) c.12951T>A (p.Leu4317=) c.12936T>A (p.Leu4312=) c.12966T>A (p.Leu4322=) | |
19 | g.38565303T>C | CA507355720 | RYR1 | c.1379T>C c.1361T>C c.12969T>C (p.Leu4323=) c.12954T>C (p.Leu4318=) c.12951T>C (p.Leu4317=) c.12936T>C (p.Leu4312=) c.12966T>C (p.Leu4322=) | ClinVar dbSNP gnomAD v4 |
19 | g.38565303T>G | CA507355721 | RYR1 | c.1379T>G c.1361T>G c.12969T>G (p.Leu4323=) c.12954T>G (p.Leu4318=) c.12951T>G (p.Leu4317=) c.12936T>G (p.Leu4312=) c.12966T>G (p.Leu4322=) | |
19 | g.38565304A= | CA2335084798 | RYR1 | c.1380A= c.1362A= c.12970A= (p.Thr4324=) c.12955A= (p.Thr4319=) c.12952A= (p.Thr4318=) c.12937A= (p.Thr4313=) c.12967A= (p.Thr4323=) | |
19 | g.38565304A>C | CA405672772 | RYR1 | c.1380A>C c.1362A>C c.12970A>C (p.Thr4324Pro) c.12955A>C (p.Thr4319Pro) c.12952A>C (p.Thr4318Pro) c.12937A>C (p.Thr4313Pro) c.12967A>C (p.Thr4323Pro) | |
19 | g.38565304A>G | CA405672775 | RYR1 | c.1380A>G c.1362A>G c.12970A>G (p.Thr4324Ala) c.12955A>G (p.Thr4319Ala) c.12952A>G (p.Thr4318Ala) c.12937A>G (p.Thr4313Ala) c.12967A>G (p.Thr4323Ala) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565304A>T | CA405672778 | RYR1 | c.1380A>T c.1362A>T c.12970A>T (p.Thr4324Ser) c.12955A>T (p.Thr4319Ser) c.12952A>T (p.Thr4318Ser) c.12937A>T (p.Thr4313Ser) c.12967A>T (p.Thr4323Ser) | |
19 | g.38565305C>A | CA405672780 | RYR1 | c.1381C>A c.1363C>A c.12971C>A (p.Thr4324Lys) c.12956C>A (p.Thr4319Lys) c.12953C>A (p.Thr4318Lys) c.12938C>A (p.Thr4313Lys) c.12968C>A (p.Thr4323Lys) | |
19 | g.38565305C= | CA2335084799 | RYR1 | c.1381C= c.1363C= c.12971C= (p.Thr4324=) c.12956C= (p.Thr4319=) c.12953C= (p.Thr4318=) c.12938C= (p.Thr4313=) c.12968C= (p.Thr4323=) | |
19 | g.38565305C>G | CA405672781 | RYR1 | c.1381C>G c.1363C>G c.12971C>G (p.Thr4324Arg) c.12956C>G (p.Thr4319Arg) c.12953C>G (p.Thr4318Arg) c.12938C>G (p.Thr4313Arg) c.12968C>G (p.Thr4323Arg) | ClinVar gnomAD v4 |
19 | g.38565305C>T | CA405672783 | RYR1 | c.1381C>T c.1363C>T c.12971C>T (p.Thr4324Met) c.12956C>T (p.Thr4319Met) c.12953C>T (p.Thr4318Met) c.12938C>T (p.Thr4313Met) c.12968C>T (p.Thr4323Met) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565310_38565321del | CA2584909138 | RYR1 | c.1386_1397del c.1368_1379del c.12976_12987del (p.Arg4326_Ala4329del) c.12961_12972del (p.Arg4321_Ala4324del) c.12958_12969del (p.Arg4320_Ala4323del) c.12943_12954del (p.Arg4315_Ala4318del) c.12973_12984del (p.Arg4325_Ala4328del) | gnomAD v4 |
19 | g.38565305_38565306insAGT | CA995731621 | RYR1 | c.1381_1382insAGT c.1363_1364insAGT c.12971_12972insAGT (p.Thr4324_Ala4325insVal) c.12956_12957insAGT (p.Thr4319_Ala4320insVal) c.12953_12954insAGT (p.Thr4318_Ala4319insVal) c.12938_12939insAGT (p.Thr4313_Ala4314insVal) c.12968_12969insAGT (p.Thr4323_Ala4324insVal) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565306G>A | CA507355728 | RYR1 | c.1382G>A c.1364G>A c.12972G>A (p.Thr4324=) c.12957G>A (p.Thr4319=) c.12954G>A (p.Thr4318=) c.12939G>A (p.Thr4313=) c.12969G>A (p.Thr4323=) | dbSNP gnomAD v4 |
19 | g.38565306G>C | CA507355727 | RYR1 | c.1382G>C c.1364G>C c.12972G>C (p.Thr4324=) c.12957G>C (p.Thr4319=) c.12954G>C (p.Thr4318=) c.12939G>C (p.Thr4313=) c.12969G>C (p.Thr4323=) | ClinVar gnomAD v4 |
19 | g.38565306G>T | CA507355726 | RYR1 | c.1382G>T c.1364G>T c.12972G>T (p.Thr4324=) c.12957G>T (p.Thr4319=) c.12954G>T (p.Thr4318=) c.12939G>T (p.Thr4313=) c.12969G>T (p.Thr4323=) | gnomAD v4 |
19 | g.38565307G>A | CA405672787 | RYR1 | c.1383G>A c.1365G>A c.12973G>A (p.Ala4325Thr) c.12958G>A (p.Ala4320Thr) c.12955G>A (p.Ala4319Thr) c.12940G>A (p.Ala4314Thr) c.12970G>A (p.Ala4324Thr) | gnomAD v4 |
19 | g.38565307G>C | CA405672789 | RYR1 | c.1383G>C c.1365G>C c.12973G>C (p.Ala4325Pro) c.12958G>C (p.Ala4320Pro) c.12955G>C (p.Ala4319Pro) c.12940G>C (p.Ala4314Pro) c.12970G>C (p.Ala4324Pro) | |
19 | g.38565307G>T | CA405672791 | RYR1 | c.1383G>T c.1365G>T c.12973G>T (p.Ala4325Ser) c.12958G>T (p.Ala4320Ser) c.12955G>T (p.Ala4319Ser) c.12940G>T (p.Ala4314Ser) c.12970G>T (p.Ala4324Ser) | gnomAD v4 |
19 | g.38565308C>A | CA405672797 | RYR1 | c.1384C>A c.1366C>A c.12974C>A (p.Ala4325Asp) c.12959C>A (p.Ala4320Asp) c.12956C>A (p.Ala4319Asp) c.12941C>A (p.Ala4314Asp) c.12971C>A (p.Ala4324Asp) | gnomAD v4 |
19 | g.38565308C= | CA2335084800 | RYR1 | c.1384C= c.1366C= c.12974C= (p.Ala4325=) c.12959C= (p.Ala4320=) c.12956C= (p.Ala4319=) c.12941C= (p.Ala4314=) c.12971C= (p.Ala4324=) | |
19 | g.38565308C>G | CA405672796 | RYR1 | c.1384C>G c.1366C>G c.12974C>G (p.Ala4325Gly) c.12959C>G (p.Ala4320Gly) c.12956C>G (p.Ala4319Gly) c.12941C>G (p.Ala4314Gly) c.12971C>G (p.Ala4324Gly) | |
19 | g.38565308C>T | CA405672793 | RYR1 | c.1384C>T c.1366C>T c.12974C>T (p.Ala4325Val) c.12959C>T (p.Ala4320Val) c.12956C>T (p.Ala4319Val) c.12941C>T (p.Ala4314Val) c.12971C>T (p.Ala4324Val) | dbSNP gnomAD v4 |
19 | g.38565308_38565314delinsCCCGCGA | CA2335084801 | RYR1 | c.1384_1390delinsCCCGCGA c.1366_1372delinsCCCGCGA c.12974_12980delinsCCCGCGA (p.Ala4325=) c.12959_12965delinsCCCGCGA (p.Ala4320=) c.12956_12962delinsCCCGCGA (p.Ala4319=) c.12941_12947delinsCCCGCGA (p.Ala4314=) c.12971_12977delinsCCCGCGA (p.Ala4324=) | |
19 | g.38565309C>A | CA507355729 | RYR1 | c.1385C>A c.1367C>A c.12975C>A (p.Ala4325=) c.12960C>A (p.Ala4320=) c.12957C>A (p.Ala4319=) c.12942C>A (p.Ala4314=) c.12972C>A (p.Ala4324=) | gnomAD v4 |
19 | g.38565309C= | CA2335084802 | RYR1 | c.1385C= c.1367C= c.12975C= (p.Ala4325=) c.12960C= (p.Ala4320=) c.12957C= (p.Ala4319=) c.12942C= (p.Ala4314=) c.12972C= (p.Ala4324=) | |
19 | g.38565309C>G | CA507355731 | RYR1 | c.1385C>G c.1367C>G c.12975C>G (p.Ala4325=) c.12960C>G (p.Ala4320=) c.12957C>G (p.Ala4319=) c.12942C>G (p.Ala4314=) c.12972C>G (p.Ala4324=) | |
19 | g.38565309C>T | CA507355730 | RYR1 | c.1385C>T c.1367C>T c.12975C>T (p.Ala4325=) c.12960C>T (p.Ala4320=) c.12957C>T (p.Ala4319=) c.12942C>T (p.Ala4314=) c.12972C>T (p.Ala4324=) | dbSNP gnomAD v4 |
19 | g.38565309_38565314del | CA995731623 | RYR1 | c.1385_1390del c.1367_1372del c.12975_12980del (p.Arg4326_Glu4327del) c.12960_12965del (p.Arg4321_Glu4322del) c.12957_12962del (p.Arg4320_Glu4321del) c.12942_12947del (p.Arg4315_Glu4316del) c.12972_12977del (p.Arg4325_Glu4326del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565310C>A | CA405672800 | RYR1 | c.1386C>A c.1368C>A c.12976C>A (p.Arg4326Ser) c.12961C>A (p.Arg4321Ser) c.12958C>A (p.Arg4320Ser) c.12943C>A (p.Arg4315Ser) c.12973C>A (p.Arg4325Ser) | gnomAD v4 |
19 | g.38565310C>G | CA405672802 | RYR1 | c.1386C>G c.1368C>G c.12976C>G (p.Arg4326Gly) c.12961C>G (p.Arg4321Gly) c.12958C>G (p.Arg4320Gly) c.12943C>G (p.Arg4315Gly) c.12973C>G (p.Arg4325Gly) | |
19 | g.38565310C>T | CA405672805 | RYR1 | c.1386C>T c.1368C>T c.12976C>T (p.Arg4326Cys) c.12961C>T (p.Arg4321Cys) c.12958C>T (p.Arg4320Cys) c.12943C>T (p.Arg4315Cys) c.12973C>T (p.Arg4325Cys) | ClinVar dbSNP gnomAD v4 |
19 | g.38565312_38565313del | CA913189013 | RYR1 | c.1388_1389del c.1370_1371del c.12978_12979del (p.Glu4327GlyfsTer?) c.12963_12964del (p.Glu4322GlyfsTer?) c.12960_12961del (p.Glu4321GlyfsTer?) c.12945_12946del (p.Glu4316GlyfsTer?) c.12975_12976del (p.Glu4326GlyfsTer?) | |
19 | g.38565311G>A | CA405672807 | RYR1 | c.1387G>A c.1369G>A c.12977G>A (p.Arg4326His) c.12962G>A (p.Arg4321His) c.12959G>A (p.Arg4320His) c.12944G>A (p.Arg4315His) c.12974G>A (p.Arg4325His) | gnomAD v4 |
19 | g.38565311G>C | CA405672808 | RYR1 | c.1387G>C c.1369G>C c.12977G>C (p.Arg4326Pro) c.12962G>C (p.Arg4321Pro) c.12959G>C (p.Arg4320Pro) c.12944G>C (p.Arg4315Pro) c.12974G>C (p.Arg4325Pro) | |
19 | g.38565311G>T | CA405672810 | RYR1 | c.1387G>T c.1369G>T c.12977G>T (p.Arg4326Leu) c.12962G>T (p.Arg4321Leu) c.12959G>T (p.Arg4320Leu) c.12944G>T (p.Arg4315Leu) c.12974G>T (p.Arg4325Leu) | ClinVar dbSNP gnomAD v4 |
19 | g.38565311_38565312delinsGC | CA2335084803 | RYR1 | c.1387_1388delinsGC c.1369_1370delinsGC c.12977_12978delinsGC (p.Arg4326=) c.12962_12963delinsGC (p.Arg4321=) c.12959_12960delinsGC (p.Arg4320=) c.12944_12945delinsGC (p.Arg4315=) c.12974_12975delinsGC (p.Arg4325=) | |
19 | g.38565312del | CA891863128 | RYR1 | c.1388del c.1370del c.12978del (p.Glu4327ArgfsTer14) c.12963del (p.Glu4322ArgfsTer14) c.12960del (p.Glu4321ArgfsTer14) c.12945del (p.Glu4316ArgfsTer14) c.12975del (p.Glu4326ArgfsTer14) | ClinVar dbSNP |
19 | g.38565312C>A | CA507355732 | RYR1 | c.1388C>A c.1370C>A c.12978C>A (p.Arg4326=) c.12963C>A (p.Arg4321=) c.12960C>A (p.Arg4320=) c.12945C>A (p.Arg4315=) c.12975C>A (p.Arg4325=) | |
19 | g.38565312C= | CA2335084804 | RYR1 | c.1388C= c.1370C= c.12978C= (p.Arg4326=) c.12963C= (p.Arg4321=) c.12960C= (p.Arg4320=) c.12945C= (p.Arg4315=) c.12975C= (p.Arg4325=) | |
19 | g.38565312C>G | CA507355733 | RYR1 | c.1388C>G c.1370C>G c.12978C>G (p.Arg4326=) c.12963C>G (p.Arg4321=) c.12960C>G (p.Arg4320=) c.12945C>G (p.Arg4315=) c.12975C>G (p.Arg4325=) | |
19 | g.38565312C>T | CA308109420 | RYR1 | c.1388C>T c.1370C>T c.12978C>T (p.Arg4326=) c.12963C>T (p.Arg4321=) c.12960C>T (p.Arg4320=) c.12945C>T (p.Arg4315=) c.12975C>T (p.Arg4325=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565313G>A | CA405672817 | RYR1 | c.1389G>A c.1371G>A c.12979G>A (p.Glu4327Lys) c.12964G>A (p.Glu4322Lys) c.12961G>A (p.Glu4321Lys) c.12946G>A (p.Glu4316Lys) c.12976G>A (p.Glu4326Lys) | dbSNP gnomAD v4 |
19 | g.38565313G>C | CA405672812 | RYR1 | c.1389G>C c.1371G>C c.12979G>C (p.Glu4327Gln) c.12964G>C (p.Glu4322Gln) c.12961G>C (p.Glu4321Gln) c.12946G>C (p.Glu4316Gln) c.12976G>C (p.Glu4326Gln) | |
19 | g.38565313G= | CA2335084805 | RYR1 | c.1389G= c.1371G= c.12979G= (p.Glu4327=) c.12964G= (p.Glu4322=) c.12961G= (p.Glu4321=) c.12946G= (p.Glu4316=) c.12976G= (p.Glu4326=) | |
19 | g.38565313G>T | CA405672815 | RYR1 | c.1389G>T c.1371G>T c.12979G>T (p.Glu4327Ter) c.12964G>T (p.Glu4322Ter) c.12961G>T (p.Glu4321Ter) c.12946G>T (p.Glu4316Ter) c.12976G>T (p.Glu4326Ter) | gnomAD v3 gnomAD v4 |
19 | g.38565314A>C | CA405672819 | RYR1 | c.1390A>C c.1372A>C c.12980A>C (p.Glu4327Ala) c.12965A>C (p.Glu4322Ala) c.12962A>C (p.Glu4321Ala) c.12947A>C (p.Glu4316Ala) c.12977A>C (p.Glu4326Ala) | |
19 | g.38565314A>G | CA405672821 | RYR1 | c.1390A>G c.1372A>G c.12980A>G (p.Glu4327Gly) c.12965A>G (p.Glu4322Gly) c.12962A>G (p.Glu4321Gly) c.12947A>G (p.Glu4316Gly) c.12977A>G (p.Glu4326Gly) | gnomAD v4 |
19 | g.38565314A>T | CA405672823 | RYR1 | c.1390A>T c.1372A>T c.12980A>T (p.Glu4327Val) c.12965A>T (p.Glu4322Val) c.12962A>T (p.Glu4321Val) c.12947A>T (p.Glu4316Val) c.12977A>T (p.Glu4326Val) | |
19 | g.38565315G>A | CA507355735 | RYR1 | c.1391G>A c.1373G>A c.12981G>A (p.Glu4327=) c.12966G>A (p.Glu4322=) c.12963G>A (p.Glu4321=) c.12948G>A (p.Glu4316=) c.12978G>A (p.Glu4326=) | |
19 | g.38565315G>C | CA405672825 | RYR1 | c.1391G>C c.1373G>C c.12981G>C (p.Glu4327Asp) c.12966G>C (p.Glu4322Asp) c.12963G>C (p.Glu4321Asp) c.12948G>C (p.Glu4316Asp) c.12978G>C (p.Glu4326Asp) | ClinVar dbSNP gnomAD v4 |
19 | g.38565315G= | CA2335084806 | RYR1 | c.1391G= c.1373G= c.12981G= (p.Glu4327=) c.12966G= (p.Glu4322=) c.12963G= (p.Glu4321=) c.12948G= (p.Glu4316=) c.12978G= (p.Glu4326=) | |
19 | g.38565315G>T | CA405672828 | RYR1 | c.1391G>T c.1373G>T c.12981G>T (p.Glu4327Asp) c.12966G>T (p.Glu4322Asp) c.12963G>T (p.Glu4321Asp) c.12948G>T (p.Glu4316Asp) c.12978G>T (p.Glu4326Asp) | gnomAD v4 |
19 | g.38565316G>A | CA405672834 | RYR1 | c.1392G>A c.1374G>A c.12982G>A (p.Ala4328Thr) c.12967G>A (p.Ala4323Thr) c.12964G>A (p.Ala4322Thr) c.12949G>A (p.Ala4317Thr) c.12979G>A (p.Ala4327Thr) | |
19 | g.38565316G>C | CA405672830 | RYR1 | c.1392G>C c.1374G>C c.12982G>C (p.Ala4328Pro) c.12967G>C (p.Ala4323Pro) c.12964G>C (p.Ala4322Pro) c.12949G>C (p.Ala4317Pro) c.12979G>C (p.Ala4327Pro) | |
19 | g.38565316G>T | CA405672833 | RYR1 | c.1392G>T c.1374G>T c.12982G>T (p.Ala4328Ser) c.12967G>T (p.Ala4323Ser) c.12964G>T (p.Ala4322Ser) c.12949G>T (p.Ala4317Ser) c.12979G>T (p.Ala4327Ser) | |
19 | g.38565317C>A | CA405672837 | RYR1 | c.1393C>A c.1375C>A c.12983C>A (p.Ala4328Glu) c.12968C>A (p.Ala4323Glu) c.12965C>A (p.Ala4322Glu) c.12950C>A (p.Ala4317Glu) c.12980C>A (p.Ala4327Glu) | |
19 | g.38565317C= | CA2335084807 | RYR1 | c.1393C= c.1375C= c.12983C= (p.Ala4328=) c.12968C= (p.Ala4323=) c.12965C= (p.Ala4322=) c.12950C= (p.Ala4317=) c.12980C= (p.Ala4327=) | |
19 | g.38565317C>G | CA405672840 | RYR1 | c.1393C>G c.1375C>G c.12983C>G (p.Ala4328Gly) c.12968C>G (p.Ala4323Gly) c.12965C>G (p.Ala4322Gly) c.12950C>G (p.Ala4317Gly) c.12980C>G (p.Ala4327Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565317C>T | CA405672841 | RYR1 | c.1393C>T c.1375C>T c.12983C>T (p.Ala4328Val) c.12968C>T (p.Ala4323Val) c.12965C>T (p.Ala4322Val) c.12950C>T (p.Ala4317Val) c.12980C>T (p.Ala4327Val) | gnomAD v4 |
19 | g.38565318G>A | CA16607801 | RYR1 | c.1394G>A c.1376G>A c.12984G>A (p.Ala4328=) c.12969G>A (p.Ala4323=) c.12966G>A (p.Ala4322=) c.12951G>A (p.Ala4317=) c.12981G>A (p.Ala4327=) | ClinVar dbSNP |
19 | g.38565318G>C | CA507355739 | RYR1 | c.1394G>C c.1376G>C c.12984G>C (p.Ala4328=) c.12969G>C (p.Ala4323=) c.12966G>C (p.Ala4322=) c.12951G>C (p.Ala4317=) c.12981G>C (p.Ala4327=) | |
19 | g.38565318G= | CA2335084808 | RYR1 | c.1394G= c.1376G= c.12984G= (p.Ala4328=) c.12969G= (p.Ala4323=) c.12966G= (p.Ala4322=) c.12951G= (p.Ala4317=) c.12981G= (p.Ala4327=) | |
19 | g.38565318G>T | CA507355740 | RYR1 | c.1394G>T c.1376G>T c.12984G>T (p.Ala4328=) c.12969G>T (p.Ala4323=) c.12966G>T (p.Ala4322=) c.12951G>T (p.Ala4317=) c.12981G>T (p.Ala4327=) | |
19 | g.38565319G>A | CA405672845 | RYR1 | c.1395G>A c.1377G>A c.12985G>A (p.Ala4329Thr) c.12970G>A (p.Ala4324Thr) c.12967G>A (p.Ala4323Thr) c.12952G>A (p.Ala4318Thr) c.12982G>A (p.Ala4328Thr) | gnomAD v4 |
19 | g.38565319G>C | CA405672846 | RYR1 | c.1395G>C c.1377G>C c.12985G>C (p.Ala4329Pro) c.12970G>C (p.Ala4324Pro) c.12967G>C (p.Ala4323Pro) c.12952G>C (p.Ala4318Pro) c.12982G>C (p.Ala4328Pro) | |
19 | g.38565319G>T | CA405672849 | RYR1 | c.1395G>T c.1377G>T c.12985G>T (p.Ala4329Ser) c.12970G>T (p.Ala4324Ser) c.12967G>T (p.Ala4323Ser) c.12952G>T (p.Ala4318Ser) c.12982G>T (p.Ala4328Ser) | gnomAD v4 |
19 | g.38565320C>A | CA024025 | RYR1 | c.1396C>A c.1378C>A c.12986C>A (p.Ala4329Asp) c.12971C>A (p.Ala4324Asp) c.12968C>A (p.Ala4323Asp) c.12953C>A (p.Ala4318Asp) c.12983C>A (p.Ala4328Asp) | ClinVar dbSNP gnomAD v4 |
19 | g.38565320C= | CA2335084810 | RYR1 | c.1396C= c.1378C= c.12986C= (p.Ala4329=) c.12971C= (p.Ala4324=) c.12968C= (p.Ala4323=) c.12953C= (p.Ala4318=) c.12983C= (p.Ala4328=) | |
19 | g.38565320C>G | CA405672852 | RYR1 | c.1396C>G c.1378C>G c.12986C>G (p.Ala4329Gly) c.12971C>G (p.Ala4324Gly) c.12968C>G (p.Ala4323Gly) c.12953C>G (p.Ala4318Gly) c.12983C>G (p.Ala4328Gly) | |
19 | g.38565320C>T | CA405672854 | RYR1 | c.1396C>T c.1378C>T c.12986C>T (p.Ala4329Val) c.12971C>T (p.Ala4324Val) c.12968C>T (p.Ala4323Val) c.12953C>T (p.Ala4318Val) c.12983C>T (p.Ala4328Val) | gnomAD v4 |
19 | g.38565320_38565322delinsCCA | CA2335084809 | RYR1 | c.1396_1398delinsCCA c.1378_1380delinsCCA c.12986_12988delinsCCA (p.Ala4329=) c.12971_12973delinsCCA (p.Ala4324=) c.12968_12970delinsCCA (p.Ala4323=) c.12953_12955delinsCCA (p.Ala4318=) c.12983_12985delinsCCA (p.Ala4328=) | |
19 | g.38565321C>A | CA507355744 | RYR1 | c.1397C>A c.1379C>A c.12987C>A (p.Ala4329=) c.12972C>A (p.Ala4324=) c.12969C>A (p.Ala4323=) c.12954C>A (p.Ala4318=) c.12984C>A (p.Ala4328=) | |
19 | g.38565321C= | CA2335084811 | RYR1 | c.1397C= c.1379C= c.12987C= (p.Ala4329=) c.12972C= (p.Ala4324=) c.12969C= (p.Ala4323=) c.12954C= (p.Ala4318=) c.12984C= (p.Ala4328=) | |
19 | g.38565321C>G | CA507355745 | RYR1 | c.1397C>G c.1379C>G c.12987C>G (p.Ala4329=) c.12972C>G (p.Ala4324=) c.12969C>G (p.Ala4323=) c.12954C>G (p.Ala4318=) c.12984C>G (p.Ala4328=) | |
19 | g.38565321C>T | CA507355746 | RYR1 | c.1397C>T c.1379C>T c.12987C>T (p.Ala4329=) c.12972C>T (p.Ala4324=) c.12969C>T (p.Ala4323=) c.12954C>T (p.Ala4318=) c.12984C>T (p.Ala4328=) | dbSNP |
19 | g.38565322_38565323del | CA995731632 | RYR1 | c.1398_1399del c.1380_1381del c.12988_12989del (p.Thr4330ArgfsTer?) c.12973_12974del (p.Thr4325ArgfsTer?) c.12970_12971del (p.Thr4324ArgfsTer?) c.12955_12956del (p.Thr4319ArgfsTer?) c.12985_12986del (p.Thr4329ArgfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565322A= | CA2335084812 | RYR1 | c.1398A= c.1380A= c.12988A= (p.Thr4330=) c.12973A= (p.Thr4325=) c.12970A= (p.Thr4324=) c.12955A= (p.Thr4319=) c.12985A= (p.Thr4329=) | |
19 | g.38565322A>C | CA405672859 | RYR1 | c.1398A>C c.1380A>C c.12988A>C (p.Thr4330Pro) c.12973A>C (p.Thr4325Pro) c.12970A>C (p.Thr4324Pro) c.12955A>C (p.Thr4319Pro) c.12985A>C (p.Thr4329Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565322A>G | CA405672861 | RYR1 | c.1398A>G c.1380A>G c.12988A>G (p.Thr4330Ala) c.12973A>G (p.Thr4325Ala) c.12970A>G (p.Thr4324Ala) c.12955A>G (p.Thr4319Ala) c.12985A>G (p.Thr4329Ala) | gnomAD v4 |
19 | g.38565322A>T | CA405672863 | RYR1 | c.1398A>T c.1380A>T c.12988A>T (p.Thr4330Ser) c.12973A>T (p.Thr4325Ser) c.12970A>T (p.Thr4324Ser) c.12955A>T (p.Thr4319Ser) c.12985A>T (p.Thr4329Ser) | |
19 | g.38565323C>A | CA405672872 | RYR1 | c.1399C>A c.1381C>A c.12989C>A (p.Thr4330Asn) c.12974C>A (p.Thr4325Asn) c.12971C>A (p.Thr4324Asn) c.12956C>A (p.Thr4319Asn) c.12986C>A (p.Thr4329Asn) | |
19 | g.38565323C>G | CA405672877 | RYR1 | c.1399C>G c.1381C>G c.12989C>G (p.Thr4330Ser) c.12974C>G (p.Thr4325Ser) c.12971C>G (p.Thr4324Ser) c.12956C>G (p.Thr4319Ser) c.12986C>G (p.Thr4329Ser) | gnomAD v3 gnomAD v4 |
19 | g.38565323C>T | CA405672876 | RYR1 | c.1399C>T c.1381C>T c.12989C>T (p.Thr4330Ile) c.12974C>T (p.Thr4325Ile) c.12971C>T (p.Thr4324Ile) c.12956C>T (p.Thr4319Ile) c.12986C>T (p.Thr4329Ile) | ClinVar |
19 | g.38565324C>A | CA507355748 | RYR1 | c.1400C>A c.1382C>A c.12990C>A (p.Thr4330=) c.12975C>A (p.Thr4325=) c.12972C>A (p.Thr4324=) c.12957C>A (p.Thr4319=) c.12987C>A (p.Thr4329=) | |
19 | g.38565324C= | CA2335084813 | RYR1 | c.1400C= c.1382C= c.12990C= (p.Thr4330=) c.12975C= (p.Thr4325=) c.12972C= (p.Thr4324=) c.12957C= (p.Thr4319=) c.12987C= (p.Thr4329=) | |
19 | g.38565324C>G | CA10607086 | RYR1 | c.1400C>G c.1382C>G c.12990C>G (p.Thr4330=) c.12975C>G (p.Thr4325=) c.12972C>G (p.Thr4324=) c.12957C>G (p.Thr4319=) c.12987C>G (p.Thr4329=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565324C>T | CA024027 | RYR1 | c.1400C>T c.1382C>T c.12990C>T (p.Thr4330=) c.12975C>T (p.Thr4325=) c.12972C>T (p.Thr4324=) c.12957C>T (p.Thr4319=) c.12987C>T (p.Thr4329=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565325G>A | CA405672881 | RYR1 | c.1401G>A c.1383G>A c.12991G>A (p.Ala4331Thr) c.12976G>A (p.Ala4326Thr) c.12973G>A (p.Ala4325Thr) c.12958G>A (p.Ala4320Thr) c.12988G>A (p.Ala4330Thr) | dbSNP gnomAD v4 |
19 | g.38565325G>C | CA405672883 | RYR1 | c.1401G>C c.1383G>C c.12991G>C (p.Ala4331Pro) c.12976G>C (p.Ala4326Pro) c.12973G>C (p.Ala4325Pro) c.12958G>C (p.Ala4320Pro) c.12988G>C (p.Ala4330Pro) | |
19 | g.38565325G= | CA2335084814 | RYR1 | c.1401G= c.1383G= c.12991G= (p.Ala4331=) c.12976G= (p.Ala4326=) c.12973G= (p.Ala4325=) c.12958G= (p.Ala4320=) c.12988G= (p.Ala4330=) | |
19 | g.38565325G>T | CA405672885 | RYR1 | c.1401G>T c.1383G>T c.12991G>T (p.Ala4331Ser) c.12976G>T (p.Ala4326Ser) c.12973G>T (p.Ala4325Ser) c.12958G>T (p.Ala4320Ser) c.12988G>T (p.Ala4330Ser) | |
19 | g.38565325_38565326insTG | CA995731646 | RYR1 | c.1401_1402insTG c.1383_1384insTG c.12991_12992insTG (p.Ala4331ValfsTer11) c.12976_12977insTG (p.Ala4326ValfsTer11) c.12973_12974insTG (p.Ala4325ValfsTer11) c.12958_12959insTG (p.Ala4320ValfsTer11) c.12988_12989insTG (p.Ala4330ValfsTer11) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565327_38565340del | CA2576772102 | RYR1 | c.1403_1416del c.1385_1398del c.12993_13006del (p.Val4332LeufsTer?) c.12978_12991del (p.Val4327LeufsTer?) c.12975_12988del (p.Val4326LeufsTer?) c.12960_12973del (p.Val4321LeufsTer?) c.12990_13003del (p.Val4331LeufsTer?) | |
19 | g.38565331_38565354dup | CA2584909139 | RYR1 | c.1407_1430dup c.1389_1412dup c.12997_13020dup (p.Val4340_Thr4341insAlaAlaLeuLeuTrpAlaAlaVal) c.12982_13005dup (p.Val4335_Thr4336insAlaAlaLeuLeuTrpAlaAlaVal) c.12979_13002dup (p.Val4334_Thr4335insAlaAlaLeuLeuTrpAlaAlaVal) c.12964_12987dup (p.Val4329_Thr4330insAlaAlaLeuLeuTrpAlaAlaVal) c.12994_13017dup (p.Val4339_Thr4340insAlaAlaLeuLeuTrpAlaAlaVal) | gnomAD v4 |
19 | g.38565326C>A | CA405672888 | RYR1 | c.1402C>A c.1384C>A c.12992C>A (p.Ala4331Glu) c.12977C>A (p.Ala4326Glu) c.12974C>A (p.Ala4325Glu) c.12959C>A (p.Ala4320Glu) c.12989C>A (p.Ala4330Glu) | |
19 | g.38565326C>G | CA405672891 | RYR1 | c.1402C>G c.1384C>G c.12992C>G (p.Ala4331Gly) c.12977C>G (p.Ala4326Gly) c.12974C>G (p.Ala4325Gly) c.12959C>G (p.Ala4320Gly) c.12989C>G (p.Ala4330Gly) | |
19 | g.38565326C>T | CA405672892 | RYR1 | c.1402C>T c.1384C>T c.12992C>T (p.Ala4331Val) c.12977C>T (p.Ala4326Val) c.12974C>T (p.Ala4325Val) c.12959C>T (p.Ala4320Val) c.12989C>T (p.Ala4330Val) | ClinVar |
19 | g.38565327A>C | CA507355749 | RYR1 | c.1403A>C c.1385A>C c.12993A>C (p.Ala4331=) c.12978A>C (p.Ala4326=) c.12975A>C (p.Ala4325=) c.12960A>C (p.Ala4320=) c.12990A>C (p.Ala4330=) | |
19 | g.38565327A>G | CA507355750 | RYR1 | c.1403A>G c.1385A>G c.12993A>G (p.Ala4331=) c.12978A>G (p.Ala4326=) c.12975A>G (p.Ala4325=) c.12960A>G (p.Ala4320=) c.12990A>G (p.Ala4330=) | |
19 | g.38565327A>T | CA507355752 | RYR1 | c.1403A>T c.1385A>T c.12993A>T (p.Ala4331=) c.12978A>T (p.Ala4326=) c.12975A>T (p.Ala4325=) c.12960A>T (p.Ala4320=) c.12990A>T (p.Ala4330=) | ClinVar |
19 | g.38565328G>A | CA405672893 | RYR1 | c.1404G>A c.1386G>A c.12994G>A (p.Val4332Met) c.12979G>A (p.Val4327Met) c.12976G>A (p.Val4326Met) c.12961G>A (p.Val4321Met) c.12991G>A (p.Val4331Met) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565328G>C | CA405672894 | RYR1 | c.1404G>C c.1386G>C c.12994G>C (p.Val4332Leu) c.12979G>C (p.Val4327Leu) c.12976G>C (p.Val4326Leu) c.12961G>C (p.Val4321Leu) c.12991G>C (p.Val4331Leu) | |
19 | g.38565328G= | CA2335084815 | RYR1 | c.1404G= c.1386G= c.12994G= (p.Val4332=) c.12979G= (p.Val4327=) c.12976G= (p.Val4326=) c.12961G= (p.Val4321=) c.12991G= (p.Val4331=) | |
19 | g.38565328G>T | CA405672895 | RYR1 | c.1404G>T c.1386G>T c.12994G>T (p.Val4332Leu) c.12979G>T (p.Val4327Leu) c.12976G>T (p.Val4326Leu) c.12961G>T (p.Val4321Leu) c.12991G>T (p.Val4331Leu) | |
19 | g.38565329T>A | CA405672900 | RYR1 | c.1405T>A c.1387T>A c.12995T>A (p.Val4332Glu) c.12980T>A (p.Val4327Glu) c.12977T>A (p.Val4326Glu) c.12962T>A (p.Val4321Glu) c.12992T>A (p.Val4331Glu) | |
19 | g.38565329T>C | CA405672898 | RYR1 | c.1405T>C c.1387T>C c.12995T>C (p.Val4332Ala) c.12980T>C (p.Val4327Ala) c.12977T>C (p.Val4326Ala) c.12962T>C (p.Val4321Ala) c.12992T>C (p.Val4331Ala) | |
19 | g.38565329T>G | CA405672897 | RYR1 | c.1405T>G c.1387T>G c.12995T>G (p.Val4332Gly) c.12980T>G (p.Val4327Gly) c.12977T>G (p.Val4326Gly) c.12962T>G (p.Val4321Gly) c.12992T>G (p.Val4331Gly) | |
19 | g.38565330G>A | CA507355756 | RYR1 | c.1406G>A c.1388G>A c.12996G>A (p.Val4332=) c.12981G>A (p.Val4327=) c.12978G>A (p.Val4326=) c.12963G>A (p.Val4321=) c.12993G>A (p.Val4331=) | |
19 | g.38565330G>C | CA507355755 | RYR1 | c.1406G>C c.1388G>C c.12996G>C (p.Val4332=) c.12981G>C (p.Val4327=) c.12978G>C (p.Val4326=) c.12963G>C (p.Val4321=) c.12993G>C (p.Val4331=) | |
19 | g.38565330G>T | CA507355754 | RYR1 | c.1406G>T c.1388G>T c.12996G>T (p.Val4332=) c.12981G>T (p.Val4327=) c.12978G>T (p.Val4326=) c.12963G>T (p.Val4321=) c.12993G>T (p.Val4331=) | |
19 | g.38565331G>A | CA405672903 | RYR1 | c.1407G>A c.1389G>A c.12997G>A (p.Ala4333Thr) c.12982G>A (p.Ala4328Thr) c.12979G>A (p.Ala4327Thr) c.12964G>A (p.Ala4322Thr) c.12994G>A (p.Ala4332Thr) | |
19 | g.38565331G>C | CA405672906 | RYR1 | c.1407G>C c.1389G>C c.12997G>C (p.Ala4333Pro) c.12982G>C (p.Ala4328Pro) c.12979G>C (p.Ala4327Pro) c.12964G>C (p.Ala4322Pro) c.12994G>C (p.Ala4332Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565331G= | CA2335084816 | RYR1 | c.1407G= c.1389G= c.12997G= (p.Ala4333=) c.12982G= (p.Ala4328=) c.12979G= (p.Ala4327=) c.12964G= (p.Ala4322=) c.12994G= (p.Ala4332=) | |
19 | g.38565331G>T | CA405672908 | RYR1 | c.1407G>T c.1389G>T c.12997G>T (p.Ala4333Ser) c.12982G>T (p.Ala4328Ser) c.12979G>T (p.Ala4327Ser) c.12964G>T (p.Ala4322Ser) c.12994G>T (p.Ala4332Ser) | |
19 | g.38565332C>A | CA405672910 | RYR1 | c.1408C>A c.1390C>A c.12998C>A (p.Ala4333Glu) c.12983C>A (p.Ala4328Glu) c.12980C>A (p.Ala4327Glu) c.12965C>A (p.Ala4322Glu) c.12995C>A (p.Ala4332Glu) | |
19 | g.38565332C>G | CA405672914 | RYR1 | c.1408C>G c.1390C>G c.12998C>G (p.Ala4333Gly) c.12983C>G (p.Ala4328Gly) c.12980C>G (p.Ala4327Gly) c.12965C>G (p.Ala4322Gly) c.12995C>G (p.Ala4332Gly) | |
19 | g.38565332C>T | CA405672917 | RYR1 | c.1408C>T c.1390C>T c.12998C>T (p.Ala4333Val) c.12983C>T (p.Ala4328Val) c.12980C>T (p.Ala4327Val) c.12965C>T (p.Ala4322Val) c.12995C>T (p.Ala4332Val) | gnomAD v4 |
19 | g.38565333G>A | CA507355757 | RYR1 | c.1409G>A c.1391G>A c.12999G>A (p.Ala4333=) c.12984G>A (p.Ala4328=) c.12981G>A (p.Ala4327=) c.12966G>A (p.Ala4322=) c.12996G>A (p.Ala4332=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565333G>C | CA507355758 | RYR1 | c.1409G>C c.1391G>C c.12999G>C (p.Ala4333=) c.12984G>C (p.Ala4328=) c.12981G>C (p.Ala4327=) c.12966G>C (p.Ala4322=) c.12996G>C (p.Ala4332=) | dbSNP |
19 | g.38565333G= | CA2335084817 | RYR1 | c.1409G= c.1391G= c.12999G= (p.Ala4333=) c.12984G= (p.Ala4328=) c.12981G= (p.Ala4327=) c.12966G= (p.Ala4322=) c.12996G= (p.Ala4332=) | |
19 | g.38565333G>T | CA507355760 | RYR1 | c.1409G>T c.1391G>T c.12999G>T (p.Ala4333=) c.12984G>T (p.Ala4328=) c.12981G>T (p.Ala4327=) c.12966G>T (p.Ala4322=) c.12996G>T (p.Ala4332=) | |
19 | g.38565334G>A | CA405672920 | RYR1 | c.1410G>A c.1392G>A c.13000G>A (p.Ala4334Thr) c.12985G>A (p.Ala4329Thr) c.12982G>A (p.Ala4328Thr) c.12967G>A (p.Ala4323Thr) c.12997G>A (p.Ala4333Thr) | dbSNP gnomAD v4 |
19 | g.38565334G>C | CA405672921 | RYR1 | c.1410G>C c.1392G>C c.13000G>C (p.Ala4334Pro) c.12985G>C (p.Ala4329Pro) c.12982G>C (p.Ala4328Pro) c.12967G>C (p.Ala4323Pro) c.12997G>C (p.Ala4333Pro) | |
19 | g.38565334G= | CA2335084818 | RYR1 | c.1410G= c.1392G= c.13000G= (p.Ala4334=) c.12985G= (p.Ala4329=) c.12982G= (p.Ala4328=) c.12967G= (p.Ala4323=) c.12997G= (p.Ala4333=) | |
19 | g.38565334G>T | CA405672923 | RYR1 | c.1410G>T c.1392G>T c.13000G>T (p.Ala4334Ser) c.12985G>T (p.Ala4329Ser) c.12982G>T (p.Ala4328Ser) c.12967G>T (p.Ala4323Ser) c.12997G>T (p.Ala4333Ser) | |
19 | g.38565335C>A | CA405672924 | RYR1 | c.1411C>A c.1393C>A c.13001C>A (p.Ala4334Glu) c.12986C>A (p.Ala4329Glu) c.12983C>A (p.Ala4328Glu) c.12968C>A (p.Ala4323Glu) c.12998C>A (p.Ala4333Glu) | |
19 | g.38565335C>G | CA405672925 | RYR1 | c.1411C>G c.1393C>G c.13001C>G (p.Ala4334Gly) c.12986C>G (p.Ala4329Gly) c.12983C>G (p.Ala4328Gly) c.12968C>G (p.Ala4323Gly) c.12998C>G (p.Ala4333Gly) | dbSNP gnomAD v4 |
19 | g.38565335C>T | CA405672928 | RYR1 | c.1411C>T c.1393C>T c.13001C>T (p.Ala4334Val) c.12986C>T (p.Ala4329Val) c.12983C>T (p.Ala4328Val) c.12968C>T (p.Ala4323Val) c.12998C>T (p.Ala4333Val) | gnomAD v4 |
19 | g.38565336G>A | CA507355762 | RYR1 | c.1412G>A c.1394G>A c.13002G>A (p.Ala4334=) c.12987G>A (p.Ala4329=) c.12984G>A (p.Ala4328=) c.12969G>A (p.Ala4323=) c.12999G>A (p.Ala4333=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565336G>C | CA507355764 | RYR1 | c.1412G>C c.1394G>C c.13002G>C (p.Ala4334=) c.12987G>C (p.Ala4329=) c.12984G>C (p.Ala4328=) c.12969G>C (p.Ala4323=) c.12999G>C (p.Ala4333=) | |
19 | g.38565336G= | CA2335084819 | RYR1 | c.1412G= c.1394G= c.13002G= (p.Ala4334=) c.12987G= (p.Ala4329=) c.12984G= (p.Ala4328=) c.12969G= (p.Ala4323=) c.12999G= (p.Ala4333=) | |
19 | g.38565336G>T | CA507355763 | RYR1 | c.1412G>T c.1394G>T c.13002G>T (p.Ala4334=) c.12987G>T (p.Ala4329=) c.12984G>T (p.Ala4328=) c.12969G>T (p.Ala4323=) c.12999G>T (p.Ala4333=) | gnomAD v4 |
19 | g.38565337C>A | CA405672933 | RYR1 | c.1413C>A c.1395C>A c.13003C>A (p.Leu4335Met) c.12988C>A (p.Leu4330Met) c.12985C>A (p.Leu4329Met) c.12970C>A (p.Leu4324Met) c.13000C>A (p.Leu4334Met) | |
19 | g.38565337C>G | CA405672931 | RYR1 | c.1413C>G c.1395C>G c.13003C>G (p.Leu4335Val) c.12988C>G (p.Leu4330Val) c.12985C>G (p.Leu4329Val) c.12970C>G (p.Leu4324Val) c.13000C>G (p.Leu4334Val) | |
19 | g.38565337C>T | CA507355765 | RYR1 | c.1413C>T c.1395C>T c.13003C>T (p.Leu4335=) c.12988C>T (p.Leu4330=) c.12985C>T (p.Leu4329=) c.12970C>T (p.Leu4324=) c.13000C>T (p.Leu4334=) | |
19 | g.38565347_38565412del | CA2814346185 | RYR1 | c.1423_1488del c.1405_1470del c.13013_13078del (p.Ala4338_Trp4359del) c.12998_13063del (p.Ala4333_Trp4354del) c.12995_13060del (p.Ala4332_Trp4353del) c.12980_13045del (p.Ala4327_Trp4348del) c.13010_13075del (p.Ala4337_Trp4358del) | |
19 | g.38565338T>A | CA405672935 | RYR1 | c.1414T>A c.1396T>A c.13004T>A (p.Leu4335Gln) c.12989T>A (p.Leu4330Gln) c.12986T>A (p.Leu4329Gln) c.12971T>A (p.Leu4324Gln) c.13001T>A (p.Leu4334Gln) | |
19 | g.38565338T>C | CA405672940 | RYR1 | c.1414T>C c.1396T>C c.13004T>C (p.Leu4335Pro) c.12989T>C (p.Leu4330Pro) c.12986T>C (p.Leu4329Pro) c.12971T>C (p.Leu4324Pro) c.13001T>C (p.Leu4334Pro) | |
19 | g.38565338T>G | CA405672938 | RYR1 | c.1414T>G c.1396T>G c.13004T>G (p.Leu4335Arg) c.12989T>G (p.Leu4330Arg) c.12986T>G (p.Leu4329Arg) c.12971T>G (p.Leu4324Arg) c.13001T>G (p.Leu4334Arg) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565338T= | CA2335084820 | RYR1 | c.1414T= c.1396T= c.13004T= (p.Leu4335=) c.12989T= (p.Leu4330=) c.12986T= (p.Leu4329=) c.12971T= (p.Leu4324=) c.13001T= (p.Leu4334=) | |
19 | g.38565339G>A | CA507355767 | RYR1 | c.1415G>A c.1397G>A c.13005G>A (p.Leu4335=) c.12990G>A (p.Leu4330=) c.12987G>A (p.Leu4329=) c.12972G>A (p.Leu4324=) c.13002G>A (p.Leu4334=) | gnomAD v4 |
19 | g.38565339G>C | CA507355768 | RYR1 | c.1415G>C c.1397G>C c.13005G>C (p.Leu4335=) c.12990G>C (p.Leu4330=) c.12987G>C (p.Leu4329=) c.12972G>C (p.Leu4324=) c.13002G>C (p.Leu4334=) | ClinVar |
19 | g.38565339G>T | CA507355769 | RYR1 | c.1415G>T c.1397G>T c.13005G>T (p.Leu4335=) c.12990G>T (p.Leu4330=) c.12987G>T (p.Leu4329=) c.12972G>T (p.Leu4324=) c.13002G>T (p.Leu4334=) | gnomAD v4 |
19 | g.38565340C>A | CA405672942 | RYR1 | c.1416C>A c.1398C>A c.13006C>A (p.Leu4336Ile) c.12991C>A (p.Leu4331Ile) c.12988C>A (p.Leu4330Ile) c.12973C>A (p.Leu4325Ile) c.13003C>A (p.Leu4335Ile) | |
19 | g.38565340C>G | CA405672952 | RYR1 | c.1416C>G c.1398C>G c.13006C>G (p.Leu4336Val) c.12991C>G (p.Leu4331Val) c.12988C>G (p.Leu4330Val) c.12973C>G (p.Leu4325Val) c.13003C>G (p.Leu4335Val) | |
19 | g.38565340C>T | CA405672950 | RYR1 | c.1416C>T c.1398C>T c.13006C>T (p.Leu4336Phe) c.12991C>T (p.Leu4331Phe) c.12988C>T (p.Leu4330Phe) c.12973C>T (p.Leu4325Phe) c.13003C>T (p.Leu4335Phe) | gnomAD v4 |
19 | g.38565341T>A | CA405672954 | RYR1 | c.1417T>A c.1399T>A c.13007T>A (p.Leu4336His) c.12992T>A (p.Leu4331His) c.12989T>A (p.Leu4330His) c.12974T>A (p.Leu4325His) c.13004T>A (p.Leu4335His) | |
19 | g.38565341T>C | CA405672969 | RYR1 | c.1417T>C c.1399T>C c.13007T>C (p.Leu4336Pro) c.12992T>C (p.Leu4331Pro) c.12989T>C (p.Leu4330Pro) c.12974T>C (p.Leu4325Pro) c.13004T>C (p.Leu4335Pro) | |
19 | g.38565341T>G | CA405672965 | RYR1 | c.1417T>G c.1399T>G c.13007T>G (p.Leu4336Arg) c.12992T>G (p.Leu4331Arg) c.12989T>G (p.Leu4330Arg) c.12974T>G (p.Leu4325Arg) c.13004T>G (p.Leu4335Arg) | |
19 | g.38565341_38565361delinsTCTGGGCAGCAGTGACGCGCG | CA2335084821 | RYR1 | c.1417_1437delinsTCTGGGCAGCAGTGACGCGCG c.1399_1419delinsTCTGGGCAGCAGTGACGCGCG c.13007_13027delinsTCTGGGCAGCAGTGACGCGCG (p.Leu4336=) c.12992_13012delinsTCTGGGCAGCAGTGACGCGCG (p.Leu4331=) c.12989_13009delinsTCTGGGCAGCAGTGACGCGCG (p.Leu4330=) c.12974_12994delinsTCTGGGCAGCAGTGACGCGCG (p.Leu4325=) c.13004_13024delinsTCTGGGCAGCAGTGACGCGCG (p.Leu4335=) | |
19 | g.38565342C>A | CA507355773 | RYR1 | c.1418C>A c.1400C>A c.13008C>A (p.Leu4336=) c.12993C>A (p.Leu4331=) c.12990C>A (p.Leu4330=) c.12975C>A (p.Leu4325=) c.13005C>A (p.Leu4335=) | |
19 | g.38565342C= | CA2335084822 | RYR1 | c.1418C= c.1400C= c.13008C= (p.Leu4336=) c.12993C= (p.Leu4331=) c.12990C= (p.Leu4330=) c.12975C= (p.Leu4325=) c.13005C= (p.Leu4335=) | |
19 | g.38565342C>G | CA507355775 | RYR1 | c.1418C>G c.1400C>G c.13008C>G (p.Leu4336=) c.12993C>G (p.Leu4331=) c.12990C>G (p.Leu4330=) c.12975C>G (p.Leu4325=) c.13005C>G (p.Leu4335=) | gnomAD v4 |
19 | g.38565342C>T | CA507355774 | RYR1 | c.1418C>T c.1400C>T c.13008C>T (p.Leu4336=) c.12993C>T (p.Leu4331=) c.12990C>T (p.Leu4330=) c.12975C>T (p.Leu4325=) c.13005C>T (p.Leu4335=) | dbSNP |
19 | g.38565347_38565366del | CA024029 | RYR1 | c.1423_1442del c.1405_1424del c.13013_13032del (p.Ala4338GlyfsTer?) c.12998_13017del (p.Ala4333GlyfsTer?) c.12995_13014del (p.Ala4332GlyfsTer?) c.12980_12999del (p.Ala4327GlyfsTer?) c.13010_13029del (p.Ala4337GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
19 | g.38565343T>A | CA405672975 | RYR1 | c.1419T>A c.1401T>A c.13009T>A (p.Trp4337Arg) c.12994T>A (p.Trp4332Arg) c.12991T>A (p.Trp4331Arg) c.12976T>A (p.Trp4326Arg) c.13006T>A (p.Trp4336Arg) | gnomAD v4 |
19 | g.38565343T>C | CA405672978 | RYR1 | c.1419T>C c.1401T>C c.13009T>C (p.Trp4337Arg) c.12994T>C (p.Trp4332Arg) c.12991T>C (p.Trp4331Arg) c.12976T>C (p.Trp4326Arg) c.13006T>C (p.Trp4336Arg) | |
19 | g.38565343T>G | CA405672980 | RYR1 | c.1419T>G c.1401T>G c.13009T>G (p.Trp4337Gly) c.12994T>G (p.Trp4332Gly) c.12991T>G (p.Trp4331Gly) c.12976T>G (p.Trp4326Gly) c.13006T>G (p.Trp4336Gly) | |
19 | g.38565344G>A | CA405672984 | RYR1 | c.1420G>A c.1402G>A c.13010G>A (p.Trp4337Ter) c.12995G>A (p.Trp4332Ter) c.12992G>A (p.Trp4331Ter) c.12977G>A (p.Trp4326Ter) c.13007G>A (p.Trp4336Ter) | |
19 | g.38565344G>C | CA405672987 | RYR1 | c.1420G>C c.1402G>C c.13010G>C (p.Trp4337Ser) c.12995G>C (p.Trp4332Ser) c.12992G>C (p.Trp4331Ser) c.12977G>C (p.Trp4326Ser) c.13007G>C (p.Trp4336Ser) | |
19 | g.38565344G>T | CA405672990 | RYR1 | c.1420G>T c.1402G>T c.13010G>T (p.Trp4337Leu) c.12995G>T (p.Trp4332Leu) c.12992G>T (p.Trp4331Leu) c.12977G>T (p.Trp4326Leu) c.13007G>T (p.Trp4336Leu) | |
19 | g.38565346del | CA2573156324 | RYR1 | c.1422del c.1404del c.13012del (p.Ala4338GlnfsTer3) c.12997del (p.Ala4333GlnfsTer3) c.12994del (p.Ala4332GlnfsTer3) c.12979del (p.Ala4327GlnfsTer3) c.13009del (p.Ala4337GlnfsTer3) | ClinVar dbSNP |
19 | g.38565345G>A | CA405672991 | RYR1 | c.1421G>A c.1403G>A c.13011G>A (p.Trp4337Ter) c.12996G>A (p.Trp4332Ter) c.12993G>A (p.Trp4331Ter) c.12978G>A (p.Trp4326Ter) c.13008G>A (p.Trp4336Ter) | ClinVar gnomAD v4 |
19 | g.38565345G>C | CA405672993 | RYR1 | c.1421G>C c.1403G>C c.13011G>C (p.Trp4337Cys) c.12996G>C (p.Trp4332Cys) c.12993G>C (p.Trp4331Cys) c.12978G>C (p.Trp4326Cys) c.13008G>C (p.Trp4336Cys) | |
19 | g.38565345G>T | CA405672994 | RYR1 | c.1421G>T c.1403G>T c.13011G>T (p.Trp4337Cys) c.12996G>T (p.Trp4332Cys) c.12993G>T (p.Trp4331Cys) c.12978G>T (p.Trp4326Cys) c.13008G>T (p.Trp4336Cys) | gnomAD v4 |
19 | g.38565346G>A | CA405672999 | RYR1 | c.1422G>A c.1404G>A c.13012G>A (p.Ala4338Thr) c.12997G>A (p.Ala4333Thr) c.12994G>A (p.Ala4332Thr) c.12979G>A (p.Ala4327Thr) c.13009G>A (p.Ala4337Thr) | |
19 | g.38565346G>C | CA405672996 | RYR1 | c.1422G>C c.1404G>C c.13012G>C (p.Ala4338Pro) c.12997G>C (p.Ala4333Pro) c.12994G>C (p.Ala4332Pro) c.12979G>C (p.Ala4327Pro) c.13009G>C (p.Ala4337Pro) | gnomAD v4 |
19 | g.38565346G>T | CA405672995 | RYR1 | c.1422G>T c.1404G>T c.13012G>T (p.Ala4338Ser) c.12997G>T (p.Ala4333Ser) c.12994G>T (p.Ala4332Ser) c.12979G>T (p.Ala4327Ser) c.13009G>T (p.Ala4337Ser) | |
19 | g.38565347C>A | CA405673000 | RYR1 | c.1423C>A c.1405C>A c.13013C>A (p.Ala4338Glu) c.12998C>A (p.Ala4333Glu) c.12995C>A (p.Ala4332Glu) c.12980C>A (p.Ala4327Glu) c.13010C>A (p.Ala4337Glu) | |
19 | g.38565347C>G | CA405673002 | RYR1 | c.1423C>G c.1405C>G c.13013C>G (p.Ala4338Gly) c.12998C>G (p.Ala4333Gly) c.12995C>G (p.Ala4332Gly) c.12980C>G (p.Ala4327Gly) c.13010C>G (p.Ala4337Gly) | |
19 | g.38565347C>T | CA405673003 | RYR1 | c.1423C>T c.1405C>T c.13013C>T (p.Ala4338Val) c.12998C>T (p.Ala4333Val) c.12995C>T (p.Ala4332Val) c.12980C>T (p.Ala4327Val) c.13010C>T (p.Ala4337Val) | ClinVar gnomAD v4 |
19 | g.38565348A>C | CA507355778 | RYR1 | c.1424A>C c.1406A>C c.13014A>C (p.Ala4338=) c.12999A>C (p.Ala4333=) c.12996A>C (p.Ala4332=) c.12981A>C (p.Ala4327=) c.13011A>C (p.Ala4337=) | |
19 | g.38565348A>G | CA507355779 | RYR1 | c.1424A>G c.1406A>G c.13014A>G (p.Ala4338=) c.12999A>G (p.Ala4333=) c.12996A>G (p.Ala4332=) c.12981A>G (p.Ala4327=) c.13011A>G (p.Ala4337=) | gnomAD v4 |
19 | g.38565348A>T | CA507355780 | RYR1 | c.1424A>T c.1406A>T c.13014A>T (p.Ala4338=) c.12999A>T (p.Ala4333=) c.12996A>T (p.Ala4332=) c.12981A>T (p.Ala4327=) c.13011A>T (p.Ala4337=) | |
19 | g.38565349G>A | CA405673004 | RYR1 | c.1425G>A c.1407G>A c.13015G>A (p.Ala4339Thr) c.13000G>A (p.Ala4334Thr) c.12997G>A (p.Ala4333Thr) c.12982G>A (p.Ala4328Thr) c.13012G>A (p.Ala4338Thr) | gnomAD v4 |
19 | g.38565349G>C | CA16621737 | RYR1 | c.1425G>C c.1407G>C c.13015G>C (p.Ala4339Pro) c.13000G>C (p.Ala4334Pro) c.12997G>C (p.Ala4333Pro) c.12982G>C (p.Ala4328Pro) c.13012G>C (p.Ala4338Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565349G= | CA2335084823 | RYR1 | c.1425G= c.1407G= c.13015G= (p.Ala4339=) c.13000G= (p.Ala4334=) c.12997G= (p.Ala4333=) c.12982G= (p.Ala4328=) c.13012G= (p.Ala4338=) | |
19 | g.38565349G>T | CA405673005 | RYR1 | c.1425G>T c.1407G>T c.13015G>T (p.Ala4339Ser) c.13000G>T (p.Ala4334Ser) c.12997G>T (p.Ala4333Ser) c.12982G>T (p.Ala4328Ser) c.13012G>T (p.Ala4338Ser) | |
19 | g.38565350C>A | CA405673007 | RYR1 | c.1426C>A c.1408C>A c.13016C>A (p.Ala4339Glu) c.13001C>A (p.Ala4334Glu) c.12998C>A (p.Ala4333Glu) c.12983C>A (p.Ala4328Glu) c.13013C>A (p.Ala4338Glu) | dbSNP |
19 | g.38565350C>G | CA405673008 | RYR1 | c.1426C>G c.1408C>G c.13016C>G (p.Ala4339Gly) c.13001C>G (p.Ala4334Gly) c.12998C>G (p.Ala4333Gly) c.12983C>G (p.Ala4328Gly) c.13013C>G (p.Ala4338Gly) | |
19 | g.38565350C>T | CA405673012 | RYR1 | c.1426C>T c.1408C>T c.13016C>T (p.Ala4339Val) c.13001C>T (p.Ala4334Val) c.12998C>T (p.Ala4333Val) c.12983C>T (p.Ala4328Val) c.13013C>T (p.Ala4338Val) | gnomAD v4 |
19 | g.38565351A>C | CA507355785 | RYR1 | c.1427A>C c.1409A>C c.13017A>C (p.Ala4339=) c.13002A>C (p.Ala4334=) c.12999A>C (p.Ala4333=) c.12984A>C (p.Ala4328=) c.13014A>C (p.Ala4338=) | |
19 | g.38565351A>G | CA507355783 | RYR1 | c.1427A>G c.1409A>G c.13017A>G (p.Ala4339=) c.13002A>G (p.Ala4334=) c.12999A>G (p.Ala4333=) c.12984A>G (p.Ala4328=) c.13014A>G (p.Ala4338=) | gnomAD v4 |
19 | g.38565351A>T | CA507355784 | RYR1 | c.1427A>T c.1409A>T c.13017A>T (p.Ala4339=) c.13002A>T (p.Ala4334=) c.12999A>T (p.Ala4333=) c.12984A>T (p.Ala4328=) c.13014A>T (p.Ala4338=) | |
19 | g.38565352G>A | CA405673014 | RYR1 | c.1428G>A c.1410G>A c.13018G>A (p.Val4340Met) c.13003G>A (p.Val4335Met) c.13000G>A (p.Val4334Met) c.12985G>A (p.Val4329Met) c.13015G>A (p.Val4339Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565352G>C | CA405673015 | RYR1 | c.1428G>C c.1410G>C c.13018G>C (p.Val4340Leu) c.13003G>C (p.Val4335Leu) c.13000G>C (p.Val4334Leu) c.12985G>C (p.Val4329Leu) c.13015G>C (p.Val4339Leu) | dbSNP |
19 | g.38565352G= | CA2335084824 | RYR1 | c.1428G= c.1410G= c.13018G= (p.Val4340=) c.13003G= (p.Val4335=) c.13000G= (p.Val4334=) c.12985G= (p.Val4329=) c.13015G= (p.Val4339=) | |
19 | g.38565352G>T | CA405673013 | RYR1 | c.1428G>T c.1410G>T c.13018G>T (p.Val4340Leu) c.13003G>T (p.Val4335Leu) c.13000G>T (p.Val4334Leu) c.12985G>T (p.Val4329Leu) c.13015G>T (p.Val4339Leu) | |
19 | g.38565353T>A | CA405673017 | RYR1 | c.1429T>A c.1411T>A c.13019T>A (p.Val4340Glu) c.13004T>A (p.Val4335Glu) c.13001T>A (p.Val4334Glu) c.12986T>A (p.Val4329Glu) c.13016T>A (p.Val4339Glu) | |
19 | g.38565353T>C | CA405673019 | RYR1 | c.1429T>C c.1411T>C c.13019T>C (p.Val4340Ala) c.13004T>C (p.Val4335Ala) c.13001T>C (p.Val4334Ala) c.12986T>C (p.Val4329Ala) c.13016T>C (p.Val4339Ala) | gnomAD v4 |
19 | g.38565353T>G | CA405673023 | RYR1 | c.1429T>G c.1411T>G c.13019T>G (p.Val4340Gly) c.13004T>G (p.Val4335Gly) c.13001T>G (p.Val4334Gly) c.12986T>G (p.Val4329Gly) c.13016T>G (p.Val4339Gly) | |
19 | g.38565354G>A | CA507355788 | RYR1 | c.1430G>A c.1412G>A c.13020G>A (p.Val4340=) c.13005G>A (p.Val4335=) c.13002G>A (p.Val4334=) c.12987G>A (p.Val4329=) c.13017G>A (p.Val4339=) | ClinVar gnomAD v4 |
19 | g.38565354G>C | CA507355789 | RYR1 | c.1430G>C c.1412G>C c.13020G>C (p.Val4340=) c.13005G>C (p.Val4335=) c.13002G>C (p.Val4334=) c.12987G>C (p.Val4329=) c.13017G>C (p.Val4339=) | |
19 | g.38565354G>T | CA507355790 | RYR1 | c.1430G>T c.1412G>T c.13020G>T (p.Val4340=) c.13005G>T (p.Val4335=) c.13002G>T (p.Val4334=) c.12987G>T (p.Val4329=) c.13017G>T (p.Val4339=) | |
19 | g.38565355A>C | CA405673026 | RYR1 | c.1431A>C c.1413A>C c.13021A>C (p.Thr4341Pro) c.13006A>C (p.Thr4336Pro) c.13003A>C (p.Thr4335Pro) c.12988A>C (p.Thr4330Pro) c.13018A>C (p.Thr4340Pro) | |
19 | g.38565355A>G | CA405673032 | RYR1 | c.1431A>G c.1413A>G c.13021A>G (p.Thr4341Ala) c.13006A>G (p.Thr4336Ala) c.13003A>G (p.Thr4335Ala) c.12988A>G (p.Thr4330Ala) c.13018A>G (p.Thr4340Ala) | gnomAD v4 |
19 | g.38565355A>T | CA405673035 | RYR1 | c.1431A>T c.1413A>T c.13021A>T (p.Thr4341Ser) c.13006A>T (p.Thr4336Ser) c.13003A>T (p.Thr4335Ser) c.12988A>T (p.Thr4330Ser) c.13018A>T (p.Thr4340Ser) | |
19 | g.38565355_38565388delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG | CA2335084825 | RYR1 | c.1431_1464delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG c.1413_1446delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG c.13021_13054delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG (p.Thr4341=) c.13006_13039delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG (p.Thr4336=) c.13003_13036delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG (p.Thr4335=) c.12988_13021delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG (p.Thr4330=) c.13018_13051delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG (p.Thr4340=) | |
19 | g.38565356C>A | CA405673036 | RYR1 | c.1432C>A c.1414C>A c.13022C>A (p.Thr4341Lys) c.13007C>A (p.Thr4336Lys) c.13004C>A (p.Thr4335Lys) c.12989C>A (p.Thr4330Lys) c.13019C>A (p.Thr4340Lys) | gnomAD v4 |
19 | g.38565356C= | CA2335084827 | RYR1 | c.1432C= c.1414C= c.13022C= (p.Thr4341=) c.13007C= (p.Thr4336=) c.13004C= (p.Thr4335=) c.12989C= (p.Thr4330=) c.13019C= (p.Thr4340=) | |
19 | g.38565356C>G | CA405673038 | RYR1 | c.1432C>G c.1414C>G c.13022C>G (p.Thr4341Arg) c.13007C>G (p.Thr4336Arg) c.13004C>G (p.Thr4335Arg) c.12989C>G (p.Thr4330Arg) c.13019C>G (p.Thr4340Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565356C>T | CA059537 | RYR1 | c.1432C>T c.1414C>T c.13022C>T (p.Thr4341Met) c.13007C>T (p.Thr4336Met) c.13004C>T (p.Thr4335Met) c.12989C>T (p.Thr4330Met) c.13019C>T (p.Thr4340Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565358_38565390del | CA308109466 | RYR1 | c.1434_1466del c.1416_1448del c.13024_13056del (p.Arg4342_Ala4352del) c.13009_13041del (p.Arg4337_Ala4347del) c.13006_13038del (p.Arg4336_Ala4346del) c.12991_13023del (p.Arg4331_Ala4341del) c.13021_13053del (p.Arg4341_Ala4351del) | dbSNP |
19 | g.38565356_38565391delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG | CA2335084826 | RYR1 | c.1432_1467delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG c.1414_1449delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG c.13022_13057delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG (p.Thr4341=) c.13007_13042delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG (p.Thr4336=) c.13004_13039delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG (p.Thr4335=) c.12989_13024delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG (p.Thr4330=) c.13019_13054delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG (p.Thr4340=) | |
19 | g.38565357G>A | CA507355794 | RYR1 | c.1433G>A c.1415G>A c.13023G>A (p.Thr4341=) c.13008G>A (p.Thr4336=) c.13005G>A (p.Thr4335=) c.12990G>A (p.Thr4330=) c.13020G>A (p.Thr4340=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565357G>C | CA507355795 | RYR1 | c.1433G>C c.1415G>C c.13023G>C (p.Thr4341=) c.13008G>C (p.Thr4336=) c.13005G>C (p.Thr4335=) c.12990G>C (p.Thr4330=) c.13020G>C (p.Thr4340=) | ClinVar |
19 | g.38565357G= | CA2335084828 | RYR1 | c.1433G= c.1415G= c.13023G= (p.Thr4341=) c.13008G= (p.Thr4336=) c.13005G= (p.Thr4335=) c.12990G= (p.Thr4330=) c.13020G= (p.Thr4340=) | |
19 | g.38565357G>T | CA507355796 | RYR1 | c.1433G>T c.1415G>T c.13023G>T (p.Thr4341=) c.13008G>T (p.Thr4336=) c.13005G>T (p.Thr4335=) c.12990G>T (p.Thr4330=) c.13020G>T (p.Thr4340=) | gnomAD v4 |
19 | g.38565357_38565358insGG | CA2335084829 | RYR1 | c.1433_1434insGG c.1415_1416insGG c.13023_13024insGG (p.Arg4342GlyfsTer?) c.13008_13009insGG (p.Arg4337GlyfsTer?) c.13005_13006insGG (p.Arg4336GlyfsTer?) c.12990_12991insGG (p.Arg4331GlyfsTer?) c.13020_13021insGG (p.Arg4341GlyfsTer?) | dbSNP |
19 | g.38565367_38565401del | CA995731663 | RYR1 | c.1443_1477del c.1425_1459del c.13033_13067del (p.Ala4345ProfsTer?) c.13018_13052del (p.Ala4340ProfsTer?) c.13015_13049del (p.Ala4339ProfsTer?) c.13000_13034del (p.Ala4334ProfsTer?) c.13030_13064del (p.Ala4344ProfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565358C>A | CA405673042 | RYR1 | c.1434C>A c.1416C>A c.13024C>A (p.Arg4342Ser) c.13009C>A (p.Arg4337Ser) c.13006C>A (p.Arg4336Ser) c.12991C>A (p.Arg4331Ser) c.13021C>A (p.Arg4341Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565358C= | CA2335084830 | RYR1 | c.1434C= c.1416C= c.13024C= (p.Arg4342=) c.13009C= (p.Arg4337=) c.13006C= (p.Arg4336=) c.12991C= (p.Arg4331=) c.13021C= (p.Arg4341=) | |
19 | g.38565358C>G | CA405673044 | RYR1 | c.1434C>G c.1416C>G c.13024C>G (p.Arg4342Gly) c.13009C>G (p.Arg4337Gly) c.13006C>G (p.Arg4336Gly) c.12991C>G (p.Arg4331Gly) c.13021C>G (p.Arg4341Gly) | |
19 | g.38565358C>T | CA405673048 | RYR1 | c.1434C>T c.1416C>T c.13024C>T (p.Arg4342Cys) c.13009C>T (p.Arg4337Cys) c.13006C>T (p.Arg4336Cys) c.12991C>T (p.Arg4331Cys) c.13021C>T (p.Arg4341Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565359G>A | CA405673055 | RYR1 | c.1435G>A c.1417G>A c.13025G>A (p.Arg4342His) c.13010G>A (p.Arg4337His) c.13007G>A (p.Arg4336His) c.12992G>A (p.Arg4331His) c.13022G>A (p.Arg4341His) | dbSNP gnomAD v4 |
19 | g.38565359G>C | CA405673050 | RYR1 | c.1435G>C c.1417G>C c.13025G>C (p.Arg4342Pro) c.13010G>C (p.Arg4337Pro) c.13007G>C (p.Arg4336Pro) c.12992G>C (p.Arg4331Pro) c.13022G>C (p.Arg4341Pro) | |
19 | g.38565359G= | CA2335084831 | RYR1 | c.1435G= c.1417G= c.13025G= (p.Arg4342=) c.13010G= (p.Arg4337=) c.13007G= (p.Arg4336=) c.12992G= (p.Arg4331=) c.13022G= (p.Arg4341=) | |
19 | g.38565359G>T | CA405673051 | RYR1 | c.1435G>T c.1417G>T c.13025G>T (p.Arg4342Leu) c.13010G>T (p.Arg4337Leu) c.13007G>T (p.Arg4336Leu) c.12992G>T (p.Arg4331Leu) c.13022G>T (p.Arg4341Leu) | gnomAD v4 |
19 | g.38565360C>A | CA507355799 | RYR1 | c.1436C>A c.1418C>A c.13026C>A (p.Arg4342=) c.13011C>A (p.Arg4337=) c.13008C>A (p.Arg4336=) c.12993C>A (p.Arg4331=) c.13023C>A (p.Arg4341=) | gnomAD v4 |
19 | g.38565360C>G | CA507355800 | RYR1 | c.1436C>G c.1418C>G c.13026C>G (p.Arg4342=) c.13011C>G (p.Arg4337=) c.13008C>G (p.Arg4336=) c.12993C>G (p.Arg4331=) c.13023C>G (p.Arg4341=) | |
19 | g.38565360C>T | CA507355801 | RYR1 | c.1436C>T c.1418C>T c.13026C>T (p.Arg4342=) c.13011C>T (p.Arg4337=) c.13008C>T (p.Arg4336=) c.12993C>T (p.Arg4331=) c.13023C>T (p.Arg4341=) | ClinVar dbSNP gnomAD v4 |
19 | g.38565366_38565374dup | CA308109474 | RYR1 | c.1442_1450dup c.1424_1432dup c.13032_13040dup (p.Gly4347_Ala4348insAlaAlaGly) c.13017_13025dup (p.Gly4342_Ala4343insAlaAlaGly) c.13014_13022dup (p.Gly4341_Ala4342insAlaAlaGly) c.12999_13007dup (p.Gly4336_Ala4337insAlaAlaGly) c.13029_13037dup (p.Gly4346_Ala4347insAlaAlaGly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565361G>A | CA405673059 | RYR1 | c.1437G>A c.1419G>A c.13027G>A (p.Ala4343Thr) c.13012G>A (p.Ala4338Thr) c.13009G>A (p.Ala4337Thr) c.12994G>A (p.Ala4332Thr) c.13024G>A (p.Ala4342Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565361G>C | CA405673068 | RYR1 | c.1437G>C c.1419G>C c.13027G>C (p.Ala4343Pro) c.13012G>C (p.Ala4338Pro) c.13009G>C (p.Ala4337Pro) c.12994G>C (p.Ala4332Pro) c.13024G>C (p.Ala4342Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565361G= | CA2335084832 | RYR1 | c.1437G= c.1419G= c.13027G= (p.Ala4343=) c.13012G= (p.Ala4338=) c.13009G= (p.Ala4337=) c.12994G= (p.Ala4332=) c.13024G= (p.Ala4342=) | |
19 | g.38565361G>T | CA405673072 | RYR1 | c.1437G>T c.1419G>T c.13027G>T (p.Ala4343Ser) c.13012G>T (p.Ala4338Ser) c.13009G>T (p.Ala4337Ser) c.12994G>T (p.Ala4332Ser) c.13024G>T (p.Ala4342Ser) | gnomAD v4 |
19 | g.38565362C>A | CA405673075 | RYR1 | c.1438C>A c.1420C>A c.13028C>A (p.Ala4343Asp) c.13013C>A (p.Ala4338Asp) c.13010C>A (p.Ala4337Asp) c.12995C>A (p.Ala4332Asp) c.13025C>A (p.Ala4342Asp) | gnomAD v4 |
19 | g.38565362C>G | CA405673077 | RYR1 | c.1438C>G c.1420C>G c.13028C>G (p.Ala4343Gly) c.13013C>G (p.Ala4338Gly) c.13010C>G (p.Ala4337Gly) c.12995C>G (p.Ala4332Gly) c.13025C>G (p.Ala4342Gly) | |
19 | g.38565362C>T | CA405673078 | RYR1 | c.1438C>T c.1420C>T c.13028C>T (p.Ala4343Val) c.13013C>T (p.Ala4338Val) c.13010C>T (p.Ala4337Val) c.12995C>T (p.Ala4332Val) c.13025C>T (p.Ala4342Val) | gnomAD v4 |
19 | g.38565363T>A | CA507355805 | RYR1 | c.1439T>A c.1421T>A c.13029T>A (p.Ala4343=) c.13014T>A (p.Ala4338=) c.13011T>A (p.Ala4337=) c.12996T>A (p.Ala4332=) c.13026T>A (p.Ala4342=) | |
19 | g.38565363T>C | CA507355806 | RYR1 | c.1439T>C c.1421T>C c.13029T>C (p.Ala4343=) c.13014T>C (p.Ala4338=) c.13011T>C (p.Ala4337=) c.12996T>C (p.Ala4332=) c.13026T>C (p.Ala4342=) | ClinVar dbSNP gnomAD v4 |
19 | g.38565363T>G | CA507355807 | RYR1 | c.1439T>G c.1421T>G c.13029T>G (p.Ala4343=) c.13014T>G (p.Ala4338=) c.13011T>G (p.Ala4337=) c.12996T>G (p.Ala4332=) c.13026T>G (p.Ala4342=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565363T= | CA2335084833 | RYR1 | c.1439T= c.1421T= c.13029T= (p.Ala4343=) c.13014T= (p.Ala4338=) c.13011T= (p.Ala4337=) c.12996T= (p.Ala4332=) c.13026T= (p.Ala4342=) | |
19 | g.38565364G>A | CA405673082 | RYR1 | c.1440G>A c.1422G>A c.13030G>A (p.Gly4344Arg) c.13015G>A (p.Gly4339Arg) c.13012G>A (p.Gly4338Arg) c.12997G>A (p.Gly4333Arg) c.13027G>A (p.Gly4343Arg) | |
19 | g.38565364G>C | CA405673083 | RYR1 | c.1440G>C c.1422G>C c.13030G>C (p.Gly4344Arg) c.13015G>C (p.Gly4339Arg) c.13012G>C (p.Gly4338Arg) c.12997G>C (p.Gly4333Arg) c.13027G>C (p.Gly4343Arg) | |
19 | g.38565364G>T | CA405673087 | RYR1 | c.1440G>T c.1422G>T c.13030G>T (p.Gly4344Trp) c.13015G>T (p.Gly4339Trp) c.13012G>T (p.Gly4338Trp) c.12997G>T (p.Gly4333Trp) c.13027G>T (p.Gly4343Trp) | gnomAD v4 |
19 | g.38565367del | CA2573054759 | RYR1 | c.1443del c.1425del c.13033del (p.Ala4345ProfsTer30) c.13018del (p.Ala4340ProfsTer30) c.13015del (p.Ala4339ProfsTer30) c.13000del (p.Ala4334ProfsTer30) c.13030del (p.Ala4344ProfsTer30) | ClinVar dbSNP gnomAD v4 |
19 | g.38565365G>A | CA405673096 | RYR1 | c.1441G>A c.1423G>A c.13031G>A (p.Gly4344Glu) c.13016G>A (p.Gly4339Glu) c.13013G>A (p.Gly4338Glu) c.12998G>A (p.Gly4333Glu) c.13028G>A (p.Gly4343Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565365G>C | CA405673099 | RYR1 | c.1441G>C c.1423G>C c.13031G>C (p.Gly4344Ala) c.13016G>C (p.Gly4339Ala) c.13013G>C (p.Gly4338Ala) c.12998G>C (p.Gly4333Ala) c.13028G>C (p.Gly4343Ala) | gnomAD v4 |
19 | g.38565365G= | CA2335084834 | RYR1 | c.1441G= c.1423G= c.13031G= (p.Gly4344=) c.13016G= (p.Gly4339=) c.13013G= (p.Gly4338=) c.12998G= (p.Gly4333=) c.13028G= (p.Gly4343=) | |
19 | g.38565365G>T | CA405673100 | RYR1 | c.1441G>T c.1423G>T c.13031G>T (p.Gly4344Val) c.13016G>T (p.Gly4339Val) c.13013G>T (p.Gly4338Val) c.12998G>T (p.Gly4333Val) c.13028G>T (p.Gly4343Val) | gnomAD v4 |
19 | g.38565366G>A | CA507355811 | RYR1 | c.1442G>A c.1424G>A c.13032G>A (p.Gly4344=) c.13017G>A (p.Gly4339=) c.13014G>A (p.Gly4338=) c.12999G>A (p.Gly4333=) c.13029G>A (p.Gly4343=) | gnomAD v4 |
19 | g.38565366G>C | CA507355812 | RYR1 | c.1442G>C c.1424G>C c.13032G>C (p.Gly4344=) c.13017G>C (p.Gly4339=) c.13014G>C (p.Gly4338=) c.12999G>C (p.Gly4333=) c.13029G>C (p.Gly4343=) | gnomAD v4 |
19 | g.38565366G>T | CA507355814 | RYR1 | c.1442G>T c.1424G>T c.13032G>T (p.Gly4344=) c.13017G>T (p.Gly4339=) c.13014G>T (p.Gly4338=) c.12999G>T (p.Gly4333=) c.13029G>T (p.Gly4343=) | gnomAD v4 |
19 | g.38565367G>A | CA405673116 | RYR1 | c.1443G>A c.1425G>A c.13033G>A (p.Ala4345Thr) c.13018G>A (p.Ala4340Thr) c.13015G>A (p.Ala4339Thr) c.13000G>A (p.Ala4334Thr) c.13030G>A (p.Ala4344Thr) | gnomAD v4 |
19 | g.38565367G>C | CA308109477 | RYR1 | c.1443G>C c.1425G>C c.13033G>C (p.Ala4345Pro) c.13018G>C (p.Ala4340Pro) c.13015G>C (p.Ala4339Pro) c.13000G>C (p.Ala4334Pro) c.13030G>C (p.Ala4344Pro) | dbSNP gnomAD v4 |
19 | g.38565367G= | CA2335084835 | RYR1 | c.1443G= c.1425G= c.13033G= (p.Ala4345=) c.13018G= (p.Ala4340=) c.13015G= (p.Ala4339=) c.13000G= (p.Ala4334=) c.13030G= (p.Ala4344=) | |
19 | g.38565367G>T | CA405673113 | RYR1 | c.1443G>T c.1425G>T c.13033G>T (p.Ala4345Ser) c.13018G>T (p.Ala4340Ser) c.13015G>T (p.Ala4339Ser) c.13000G>T (p.Ala4334Ser) c.13030G>T (p.Ala4344Ser) | gnomAD v4 |
19 | g.38565368C>A | CA405673121 | RYR1 | c.1444C>A c.1426C>A c.13034C>A (p.Ala4345Asp) c.13019C>A (p.Ala4340Asp) c.13016C>A (p.Ala4339Asp) c.13001C>A (p.Ala4334Asp) c.13031C>A (p.Ala4344Asp) | gnomAD v4 |
19 | g.38565368C>G | CA405673124 | RYR1 | c.1444C>G c.1426C>G c.13034C>G (p.Ala4345Gly) c.13019C>G (p.Ala4340Gly) c.13016C>G (p.Ala4339Gly) c.13001C>G (p.Ala4334Gly) c.13031C>G (p.Ala4344Gly) | |
19 | g.38565368C>T | CA405673128 | RYR1 | c.1444C>T c.1426C>T c.13034C>T (p.Ala4345Val) c.13019C>T (p.Ala4340Val) c.13016C>T (p.Ala4339Val) c.13001C>T (p.Ala4334Val) c.13031C>T (p.Ala4344Val) | gnomAD v4 |
19 | g.38565369_38565403del | CA2584909140 | RYR1 | c.1445_1479del c.1427_1461del c.13035_13069del (p.Gly4347LeufsTer?) c.13020_13054del (p.Gly4342LeufsTer?) c.13017_13051del (p.Gly4341LeufsTer?) c.13002_13036del (p.Gly4336LeufsTer?) c.13032_13066del (p.Gly4346LeufsTer?) | gnomAD v4 |
19 | g.38565369C>A | CA507355818 | RYR1 | c.1445C>A c.1427C>A c.13035C>A (p.Ala4345=) c.13020C>A (p.Ala4340=) c.13017C>A (p.Ala4339=) c.13002C>A (p.Ala4334=) c.13032C>A (p.Ala4344=) | gnomAD v4 |
19 | g.38565369C= | CA2335084836 | RYR1 | c.1445C= c.1427C= c.13035C= (p.Ala4345=) c.13020C= (p.Ala4340=) c.13017C= (p.Ala4339=) c.13002C= (p.Ala4334=) c.13032C= (p.Ala4344=) | |
19 | g.38565369C>G | CA507355819 | RYR1 | c.1445C>G c.1427C>G c.13035C>G (p.Ala4345=) c.13020C>G (p.Ala4340=) c.13017C>G (p.Ala4339=) c.13002C>G (p.Ala4334=) c.13032C>G (p.Ala4344=) | |
19 | g.38565369C>T | CA308109479 | RYR1 | c.1445C>T c.1427C>T c.13035C>T (p.Ala4345=) c.13020C>T (p.Ala4340=) c.13017C>T (p.Ala4339=) c.13002C>T (p.Ala4334=) c.13032C>T (p.Ala4344=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565375_38565400del | CA2576772103 | RYR1 | c.1451_1476del c.1433_1458del c.13041_13066del (p.Ala4348ProfsTer?) c.13026_13051del (p.Ala4343ProfsTer?) c.13023_13048del (p.Ala4342ProfsTer?) c.13008_13033del (p.Ala4337ProfsTer?) c.13038_13063del (p.Ala4347ProfsTer?) | ClinVar gnomAD v4 |
19 | g.38565370del | CA2584909141 | RYR1 | c.1446del c.1428del c.13036del (p.Ala4346LeufsTer29) c.13021del (p.Ala4341LeufsTer29) c.13018del (p.Ala4340LeufsTer29) c.13003del (p.Ala4335LeufsTer29) c.13033del (p.Ala4345LeufsTer29) | gnomAD v4 |
19 | g.38565370G>A | CA405673130 | RYR1 | c.1446G>A c.1428G>A c.13036G>A (p.Ala4346Thr) c.13021G>A (p.Ala4341Thr) c.13018G>A (p.Ala4340Thr) c.13003G>A (p.Ala4335Thr) c.13033G>A (p.Ala4345Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565370G>C | CA405673134 | RYR1 | c.1446G>C c.1428G>C c.13036G>C (p.Ala4346Pro) c.13021G>C (p.Ala4341Pro) c.13018G>C (p.Ala4340Pro) c.13003G>C (p.Ala4335Pro) c.13033G>C (p.Ala4345Pro) | |
19 | g.38565370G= | CA2335084837 | RYR1 | c.1446G= c.1428G= c.13036G= (p.Ala4346=) c.13021G= (p.Ala4341=) c.13018G= (p.Ala4340=) c.13003G= (p.Ala4335=) c.13033G= (p.Ala4345=) | |
19 | g.38565370G>T | CA405673137 | RYR1 | c.1446G>T c.1428G>T c.13036G>T (p.Ala4346Ser) c.13021G>T (p.Ala4341Ser) c.13018G>T (p.Ala4340Ser) c.13003G>T (p.Ala4335Ser) c.13033G>T (p.Ala4345Ser) | gnomAD v4 |
19 | g.38565371C>A | CA405673140 | RYR1 | c.1447C>A c.1429C>A c.13037C>A (p.Ala4346Asp) c.13022C>A (p.Ala4341Asp) c.13019C>A (p.Ala4340Asp) c.13004C>A (p.Ala4335Asp) c.13034C>A (p.Ala4345Asp) | gnomAD v4 |
19 | g.38565371C>G | CA405673155 | RYR1 | c.1447C>G c.1429C>G c.13037C>G (p.Ala4346Gly) c.13022C>G (p.Ala4341Gly) c.13019C>G (p.Ala4340Gly) c.13004C>G (p.Ala4335Gly) c.13034C>G (p.Ala4345Gly) | gnomAD v4 |
19 | g.38565371C>T | CA405673143 | RYR1 | c.1447C>T c.1429C>T c.13037C>T (p.Ala4346Val) c.13022C>T (p.Ala4341Val) c.13019C>T (p.Ala4340Val) c.13004C>T (p.Ala4335Val) c.13034C>T (p.Ala4345Val) | gnomAD v4 |
19 | g.38565371_38565372del | CA2584909142 | RYR1 | c.1447_1448del c.1429_1430del c.13037_13038del (p.Ala4346GlyfsTer?) c.13022_13023del (p.Ala4341GlyfsTer?) c.13019_13020del (p.Ala4340GlyfsTer?) c.13004_13005del (p.Ala4335GlyfsTer?) c.13034_13035del (p.Ala4345GlyfsTer?) | gnomAD v4 |
19 | g.38565372T>A | CA507355822 | RYR1 | c.1448T>A c.1430T>A c.13038T>A (p.Ala4346=) c.13023T>A (p.Ala4341=) c.13020T>A (p.Ala4340=) c.13005T>A (p.Ala4335=) c.13035T>A (p.Ala4345=) | |
19 | g.38565372T>C | CA059539 | RYR1 | c.1448T>C c.1430T>C c.13038T>C (p.Ala4346=) c.13023T>C (p.Ala4341=) c.13020T>C (p.Ala4340=) c.13005T>C (p.Ala4335=) c.13035T>C (p.Ala4345=) | ClinVar dbSNP ExAC gnomAD v4 |
19 | g.38565372T>G | CA507355820 | RYR1 | c.1448T>G c.1430T>G c.13038T>G (p.Ala4346=) c.13023T>G (p.Ala4341=) c.13020T>G (p.Ala4340=) c.13005T>G (p.Ala4335=) c.13035T>G (p.Ala4345=) | dbSNP gnomAD v4 |
19 | g.38565372T= | CA2335084838 | RYR1 | c.1448T= c.1430T= c.13038T= (p.Ala4346=) c.13023T= (p.Ala4341=) c.13020T= (p.Ala4340=) c.13005T= (p.Ala4335=) c.13035T= (p.Ala4345=) | |
19 | g.38565373G>A | CA405673159 | RYR1 | c.1449G>A c.1431G>A c.13039G>A (p.Gly4347Ser) c.13024G>A (p.Gly4342Ser) c.13021G>A (p.Gly4341Ser) c.13006G>A (p.Gly4336Ser) c.13036G>A (p.Gly4346Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565373G>C | CA405673169 | RYR1 | c.1449G>C c.1431G>C c.13039G>C (p.Gly4347Arg) c.13024G>C (p.Gly4342Arg) c.13021G>C (p.Gly4341Arg) c.13006G>C (p.Gly4336Arg) c.13036G>C (p.Gly4346Arg) | gnomAD v4 |
19 | g.38565373G= | CA2335084839 | RYR1 | c.1449G= c.1431G= c.13039G= (p.Gly4347=) c.13024G= (p.Gly4342=) c.13021G= (p.Gly4341=) c.13006G= (p.Gly4336=) c.13036G= (p.Gly4346=) | |
19 | g.38565373G>T | CA405673171 | RYR1 | c.1449G>T c.1431G>T c.13039G>T (p.Gly4347Cys) c.13024G>T (p.Gly4342Cys) c.13021G>T (p.Gly4341Cys) c.13006G>T (p.Gly4336Cys) c.13036G>T (p.Gly4346Cys) | gnomAD v4 |
19 | g.38565374G>A | CA405673182 | RYR1 | c.1450G>A c.1432G>A c.13040G>A (p.Gly4347Asp) c.13025G>A (p.Gly4342Asp) c.13022G>A (p.Gly4341Asp) c.13007G>A (p.Gly4336Asp) c.13037G>A (p.Gly4346Asp) | gnomAD v4 |
19 | g.38565374G>C | CA405673172 | RYR1 | c.1450G>C c.1432G>C c.13040G>C (p.Gly4347Ala) c.13025G>C (p.Gly4342Ala) c.13022G>C (p.Gly4341Ala) c.13007G>C (p.Gly4336Ala) c.13037G>C (p.Gly4346Ala) | |
19 | g.38565374G>T | CA405673174 | RYR1 | c.1450G>T c.1432G>T c.13040G>T (p.Gly4347Val) c.13025G>T (p.Gly4342Val) c.13022G>T (p.Gly4341Val) c.13007G>T (p.Gly4336Val) c.13037G>T (p.Gly4346Val) | gnomAD v4 |
19 | g.38565375C>A | CA507355825 | RYR1 | c.1451C>A c.1433C>A c.13041C>A (p.Gly4347=) c.13026C>A (p.Gly4342=) c.13023C>A (p.Gly4341=) c.13008C>A (p.Gly4336=) c.13038C>A (p.Gly4346=) | gnomAD v4 |
19 | g.38565375C= | CA2335084840 | RYR1 | c.1451C= c.1433C= c.13041C= (p.Gly4347=) c.13026C= (p.Gly4342=) c.13023C= (p.Gly4341=) c.13008C= (p.Gly4336=) c.13038C= (p.Gly4346=) | |
19 | g.38565375C>G | CA507355826 | RYR1 | c.1451C>G c.1433C>G c.13041C>G (p.Gly4347=) c.13026C>G (p.Gly4342=) c.13023C>G (p.Gly4341=) c.13008C>G (p.Gly4336=) c.13038C>G (p.Gly4346=) | dbSNP |
19 | g.38565375C>T | CA507355827 | RYR1 | c.1451C>T c.1433C>T c.13041C>T (p.Gly4347=) c.13026C>T (p.Gly4342=) c.13023C>T (p.Gly4341=) c.13008C>T (p.Gly4336=) c.13038C>T (p.Gly4346=) | dbSNP gnomAD v4 |
19 | g.38565376G>A | CA405673185 | RYR1 | c.1452G>A c.1434G>A c.13042G>A (p.Ala4348Thr) c.13027G>A (p.Ala4343Thr) c.13024G>A (p.Ala4342Thr) c.13009G>A (p.Ala4337Thr) c.13039G>A (p.Ala4347Thr) | ClinVar dbSNP gnomAD v4 |
19 | g.38565376G>C | CA405673186 | RYR1 | c.1452G>C c.1434G>C c.13042G>C (p.Ala4348Pro) c.13027G>C (p.Ala4343Pro) c.13024G>C (p.Ala4342Pro) c.13009G>C (p.Ala4337Pro) c.13039G>C (p.Ala4347Pro) | |
19 | g.38565376G>T | CA405673188 | RYR1 | c.1452G>T c.1434G>T c.13042G>T (p.Ala4348Ser) c.13027G>T (p.Ala4343Ser) c.13024G>T (p.Ala4342Ser) c.13009G>T (p.Ala4337Ser) c.13039G>T (p.Ala4347Ser) | gnomAD v4 |
19 | g.38565381_38565392del | CA2584909143 | RYR1 | c.1457_1468del c.1439_1450del c.13047_13058del (p.Ala4350_Gly4353del) c.13032_13043del (p.Ala4345_Gly4348del) c.13029_13040del (p.Ala4344_Gly4347del) c.13014_13025del (p.Ala4339_Gly4342del) c.13044_13055del (p.Ala4349_Gly4352del) | gnomAD v4 |
19 | g.38565377del | CA2584909144 | RYR1 | c.1453del c.1435del c.13043del (p.Ala4348GlyfsTer27) c.13028del (p.Ala4343GlyfsTer27) c.13025del (p.Ala4342GlyfsTer27) c.13010del (p.Ala4337GlyfsTer27) c.13040del (p.Ala4347GlyfsTer27) | gnomAD v4 |
19 | g.38565377C>A | CA405673190 | RYR1 | c.1453C>A c.1435C>A c.13043C>A (p.Ala4348Glu) c.13028C>A (p.Ala4343Glu) c.13025C>A (p.Ala4342Glu) c.13010C>A (p.Ala4337Glu) c.13040C>A (p.Ala4347Glu) | gnomAD v4 |
19 | g.38565377C= | CA2335084841 | RYR1 | c.1453C= c.1435C= c.13043C= (p.Ala4348=) c.13028C= (p.Ala4343=) c.13025C= (p.Ala4342=) c.13010C= (p.Ala4337=) c.13040C= (p.Ala4347=) | |
19 | g.38565377C>G | CA405673192 | RYR1 | c.1453C>G c.1435C>G c.13043C>G (p.Ala4348Gly) c.13028C>G (p.Ala4343Gly) c.13025C>G (p.Ala4342Gly) c.13010C>G (p.Ala4337Gly) c.13040C>G (p.Ala4347Gly) | gnomAD v4 |
19 | g.38565377C>T | CA405673195 | RYR1 | c.1453C>T c.1435C>T c.13043C>T (p.Ala4348Val) c.13028C>T (p.Ala4343Val) c.13025C>T (p.Ala4342Val) c.13010C>T (p.Ala4337Val) c.13040C>T (p.Ala4347Val) | dbSNP gnomAD v4 |
19 | g.38565377_38565378delinsCG | CA2335084842 | RYR1 | c.1453_1454delinsCG c.1435_1436delinsCG c.13043_13044delinsCG (p.Ala4348=) c.13028_13029delinsCG (p.Ala4343=) c.13025_13026delinsCG (p.Ala4342=) c.13010_13011delinsCG (p.Ala4337=) c.13040_13041delinsCG (p.Ala4347=) | |
19 | g.38565378G>A | CA024031 | RYR1 | c.1454G>A c.1436G>A c.13044G>A (p.Ala4348=) c.13029G>A (p.Ala4343=) c.13026G>A (p.Ala4342=) c.13011G>A (p.Ala4337=) c.13041G>A (p.Ala4347=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565378G>C | CA507355835 | RYR1 | c.1454G>C c.1436G>C c.13044G>C (p.Ala4348=) c.13029G>C (p.Ala4343=) c.13026G>C (p.Ala4342=) c.13011G>C (p.Ala4337=) c.13041G>C (p.Ala4347=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565378G= | CA2335084844 | RYR1 | c.1454G= c.1436G= c.13044G= (p.Ala4348=) c.13029G= (p.Ala4343=) c.13026G= (p.Ala4342=) c.13011G= (p.Ala4337=) c.13041G= (p.Ala4347=) | |
19 | g.38565378G>T | CA507355834 | RYR1 | c.1454G>T c.1436G>T c.13044G>T (p.Ala4348=) c.13029G>T (p.Ala4343=) c.13026G>T (p.Ala4342=) c.13011G>T (p.Ala4337=) c.13041G>T (p.Ala4347=) | ClinVar dbSNP gnomAD v4 |
19 | g.38565382dup | CA2584909145 | RYR1 | c.1458dup c.1440dup c.13048dup (p.Ala4350GlyfsTer?) c.13033dup (p.Ala4345GlyfsTer?) c.13030dup (p.Ala4344GlyfsTer?) c.13015dup (p.Ala4339GlyfsTer?) c.13045dup (p.Ala4349GlyfsTer?) | gnomAD v4 |
19 | g.38565380_38565382dup | CA2335084843 | RYR1 | c.1456_1458dup c.1438_1440dup c.13046_13048dup (p.Gly4349_Ala4350insGly) c.13031_13033dup (p.Gly4344_Ala4345insGly) c.13028_13030dup (p.Gly4343_Ala4344insGly) c.13013_13015dup (p.Gly4338_Ala4339insGly) c.13043_13045dup (p.Gly4348_Ala4349insGly) | ClinVar dbSNP gnomAD v4 |
19 | g.38565382del | CA633066828 | RYR1 | c.1458del c.1440del c.13048del (p.Ala4350ArgfsTer25) c.13033del (p.Ala4345ArgfsTer25) c.13030del (p.Ala4344ArgfsTer25) c.13015del (p.Ala4339ArgfsTer25) c.13045del (p.Ala4349ArgfsTer25) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565380_38565382del | CA2814346197 | RYR1 | c.1456_1458del c.1438_1440del c.13046_13048del (p.Gly4349del) c.13031_13033del (p.Gly4344del) c.13028_13030del (p.Gly4343del) c.13013_13015del (p.Gly4338del) c.13043_13045del (p.Gly4348del) | |
19 | g.38565379G>A | CA405673197 | RYR1 | c.1455G>A c.1437G>A c.13045G>A (p.Gly4349Arg) c.13030G>A (p.Gly4344Arg) c.13027G>A (p.Gly4343Arg) c.13012G>A (p.Gly4338Arg) c.13042G>A (p.Gly4348Arg) | gnomAD v4 |
19 | g.38565379G>C | CA405673201 | RYR1 | c.1455G>C c.1437G>C c.13045G>C (p.Gly4349Arg) c.13030G>C (p.Gly4344Arg) c.13027G>C (p.Gly4343Arg) c.13012G>C (p.Gly4338Arg) c.13042G>C (p.Gly4348Arg) | |
19 | g.38565379G>T | CA405673210 | RYR1 | c.1455G>T c.1437G>T c.13045G>T (p.Gly4349Trp) c.13030G>T (p.Gly4344Trp) c.13027G>T (p.Gly4343Trp) c.13012G>T (p.Gly4338Trp) c.13042G>T (p.Gly4348Trp) | gnomAD v4 |
19 | g.38565380G>A | CA405673212 | RYR1 | c.1456G>A c.1438G>A c.13046G>A (p.Gly4349Glu) c.13031G>A (p.Gly4344Glu) c.13028G>A (p.Gly4343Glu) c.13013G>A (p.Gly4338Glu) c.13043G>A (p.Gly4348Glu) | gnomAD v4 |
19 | g.38565380G>C | CA405673214 | RYR1 | c.1456G>C c.1438G>C c.13046G>C (p.Gly4349Ala) c.13031G>C (p.Gly4344Ala) c.13028G>C (p.Gly4343Ala) c.13013G>C (p.Gly4338Ala) c.13043G>C (p.Gly4348Ala) | ClinVar dbSNP |
19 | g.38565380G= | CA2335084846 | RYR1 | c.1456G= c.1438G= c.13046G= (p.Gly4349=) c.13031G= (p.Gly4344=) c.13028G= (p.Gly4343=) c.13013G= (p.Gly4338=) c.13043G= (p.Gly4348=) | |
19 | g.38565380G>T | CA405673216 | RYR1 | c.1456G>T c.1438G>T c.13046G>T (p.Gly4349Val) c.13031G>T (p.Gly4344Val) c.13028G>T (p.Gly4343Val) c.13013G>T (p.Gly4338Val) c.13043G>T (p.Gly4348Val) | gnomAD v4 |
19 | g.38565380_38565383delinsGGGC | CA2335084845 | RYR1 | c.1456_1459delinsGGGC c.1438_1441delinsGGGC c.13046_13049delinsGGGC (p.Gly4349=) c.13031_13034delinsGGGC (p.Gly4344=) c.13028_13031delinsGGGC (p.Gly4343=) c.13013_13016delinsGGGC (p.Gly4338=) c.13043_13046delinsGGGC (p.Gly4348=) | |
19 | g.38565381G>A | CA507355840 | RYR1 | c.1457G>A c.1439G>A c.13047G>A (p.Gly4349=) c.13032G>A (p.Gly4344=) c.13029G>A (p.Gly4343=) c.13014G>A (p.Gly4338=) c.13044G>A (p.Gly4348=) | gnomAD v4 |
19 | g.38565381G>C | CA507355839 | RYR1 | c.1457G>C c.1439G>C c.13047G>C (p.Gly4349=) c.13032G>C (p.Gly4344=) c.13029G>C (p.Gly4343=) c.13014G>C (p.Gly4338=) c.13044G>C (p.Gly4348=) | |
19 | g.38565381G>T | CA507355837 | RYR1 | c.1457G>T c.1439G>T c.13047G>T (p.Gly4349=) c.13032G>T (p.Gly4344=) c.13029G>T (p.Gly4343=) c.13014G>T (p.Gly4338=) c.13044G>T (p.Gly4348=) | gnomAD v4 |
19 | g.38565389_38565391dup | CA2335084847 | RYR1 | c.1465_1467dup c.1447_1449dup c.13055_13057dup (p.Ala4352_Gly4353insAla) c.13040_13042dup (p.Ala4347_Gly4348insAla) c.13037_13039dup (p.Ala4346_Gly4347insAla) c.13022_13024dup (p.Ala4341_Gly4342insAla) c.13052_13054dup (p.Ala4351_Gly4352insAla) | dbSNP |
19 | g.38565386_38565391dup | CA882058928 | RYR1 | c.1462_1467dup c.1444_1449dup c.13052_13057dup (p.Ala4352_Gly4353insAlaAla) c.13037_13042dup (p.Ala4347_Gly4348insAlaAla) c.13034_13039dup (p.Ala4346_Gly4347insAlaAla) c.13019_13024dup (p.Ala4341_Gly4342insAlaAla) c.13049_13054dup (p.Ala4351_Gly4352insAlaAla) | ClinVar dbSNP gnomAD v4 |
19 | g.38565389_38565391del | CA507355838 | RYR1 | c.1465_1467del c.1447_1449del c.13055_13057del (p.Ala4352del) c.13040_13042del (p.Ala4347del) c.13037_13039del (p.Ala4346del) c.13022_13024del (p.Ala4341del) c.13052_13054del (p.Ala4351del) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565382G>A | CA059552 | RYR1 | c.1458G>A c.1440G>A c.13048G>A (p.Ala4350Thr) c.13033G>A (p.Ala4345Thr) c.13030G>A (p.Ala4344Thr) c.13015G>A (p.Ala4339Thr) c.13045G>A (p.Ala4349Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38565382G>C | CA405673225 | RYR1 | c.1458G>C c.1440G>C c.13048G>C (p.Ala4350Pro) c.13033G>C (p.Ala4345Pro) c.13030G>C (p.Ala4344Pro) c.13015G>C (p.Ala4339Pro) c.13045G>C (p.Ala4349Pro) | |
19 | g.38565382G= | CA2335084848 | RYR1 | c.1458G= c.1440G= c.13048G= (p.Ala4350=) c.13033G= (p.Ala4345=) c.13030G= (p.Ala4344=) c.13015G= (p.Ala4339=) c.13045G= (p.Ala4349=) | |
19 | g.38565382G>T | CA405673223 | RYR1 | c.1458G>T c.1440G>T c.13048G>T (p.Ala4350Ser) c.13033G>T (p.Ala4345Ser) c.13030G>T (p.Ala4344Ser) c.13015G>T (p.Ala4339Ser) c.13045G>T (p.Ala4349Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565385_38565396dup | CA2576772104 | RYR1 | c.1461_1472dup c.1443_1454dup c.13051_13062dup (p.Ala4354_Leu4355insAlaAlaGlyAla) c.13036_13047dup (p.Ala4349_Leu4350insAlaAlaGlyAla) c.13033_13044dup (p.Ala4348_Leu4349insAlaAlaGlyAla) c.13018_13029dup (p.Ala4343_Leu4344insAlaAlaGlyAla) c.13048_13059dup (p.Ala4353_Leu4354insAlaAlaGlyAla) | gnomAD v4 |
19 | g.38565383del | CA2814346203 | RYR1 | c.1459del c.1441del c.13049del (p.Ala4350GlyfsTer25) c.13034del (p.Ala4345GlyfsTer25) c.13031del (p.Ala4344GlyfsTer25) c.13016del (p.Ala4339GlyfsTer25) c.13046del (p.Ala4349GlyfsTer25) | |
19 | g.38565383C>A | CA405673226 | RYR1 | c.1459C>A c.1441C>A c.13049C>A (p.Ala4350Glu) c.13034C>A (p.Ala4345Glu) c.13031C>A (p.Ala4344Glu) c.13016C>A (p.Ala4339Glu) c.13046C>A (p.Ala4349Glu) | gnomAD v4 |
19 | g.38565383C>G | CA405673229 | RYR1 | c.1459C>G c.1441C>G c.13049C>G (p.Ala4350Gly) c.13034C>G (p.Ala4345Gly) c.13031C>G (p.Ala4344Gly) c.13016C>G (p.Ala4339Gly) c.13046C>G (p.Ala4349Gly) | gnomAD v4 |
19 | g.38565383C>T | CA405673231 | RYR1 | c.1459C>T c.1441C>T c.13049C>T (p.Ala4350Val) c.13034C>T (p.Ala4345Val) c.13031C>T (p.Ala4344Val) c.13016C>T (p.Ala4339Val) c.13046C>T (p.Ala4349Val) | gnomAD v4 |
19 | g.38565392_38565431del | CA2584909146 | RYR1 | c.1468_1507del c.1450_1489del c.13058_13097del (p.Gly4353AlafsTer9) c.13043_13082del (p.Gly4348AlafsTer9) c.13040_13079del (p.Gly4347AlafsTer9) c.13025_13064del (p.Gly4342AlafsTer9) c.13055_13094del (p.Gly4352AlafsTer9) | gnomAD v4 |
19 | g.38565384G>A | CA507355842 | RYR1 | c.1460G>A c.1442G>A c.13050G>A (p.Ala4350=) c.13035G>A (p.Ala4345=) c.13032G>A (p.Ala4344=) c.13017G>A (p.Ala4339=) c.13047G>A (p.Ala4349=) | ClinVar dbSNP gnomAD v4 |
19 | g.38565384G>C | CA507355844 | RYR1 | c.1460G>C c.1442G>C c.13050G>C (p.Ala4350=) c.13035G>C (p.Ala4345=) c.13032G>C (p.Ala4344=) c.13017G>C (p.Ala4339=) c.13047G>C (p.Ala4349=) | |
19 | g.38565384G>T | CA507355843 | RYR1 | c.1460G>T c.1442G>T c.13050G>T (p.Ala4350=) c.13035G>T (p.Ala4345=) c.13032G>T (p.Ala4344=) c.13017G>T (p.Ala4339=) c.13047G>T (p.Ala4349=) | gnomAD v4 |
19 | g.38565385G>A | CA080780 | RYR1 | c.1461G>A c.1443G>A c.13051G>A (p.Ala4351Thr) c.13036G>A (p.Ala4346Thr) c.13033G>A (p.Ala4345Thr) c.13018G>A (p.Ala4340Thr) c.13048G>A (p.Ala4350Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565385G>C | CA405673236 | RYR1 | c.1461G>C c.1443G>C c.13051G>C (p.Ala4351Pro) c.13036G>C (p.Ala4346Pro) c.13033G>C (p.Ala4345Pro) c.13018G>C (p.Ala4340Pro) c.13048G>C (p.Ala4350Pro) | |
19 | g.38565385G= | CA2335084849 | RYR1 | c.1461G= c.1443G= c.13051G= (p.Ala4351=) c.13036G= (p.Ala4346=) c.13033G= (p.Ala4345=) c.13018G= (p.Ala4340=) c.13048G= (p.Ala4350=) | |
19 | g.38565385G>T | CA405673242 | RYR1 | c.1461G>T c.1443G>T c.13051G>T (p.Ala4351Ser) c.13036G>T (p.Ala4346Ser) c.13033G>T (p.Ala4345Ser) c.13018G>T (p.Ala4340Ser) c.13048G>T (p.Ala4350Ser) | gnomAD v4 |
19 | g.38565386C>A | CA405673245 | RYR1 | c.1462C>A c.1444C>A c.13052C>A (p.Ala4351Glu) c.13037C>A (p.Ala4346Glu) c.13034C>A (p.Ala4345Glu) c.13019C>A (p.Ala4340Glu) c.13049C>A (p.Ala4350Glu) | dbSNP gnomAD v4 |
19 | g.38565386C= | CA2335084850 | RYR1 | c.1462C= c.1444C= c.13052C= (p.Ala4351=) c.13037C= (p.Ala4346=) c.13034C= (p.Ala4345=) c.13019C= (p.Ala4340=) c.13049C= (p.Ala4350=) | |
19 | g.38565386C>G | CA405673247 | RYR1 | c.1462C>G c.1444C>G c.13052C>G (p.Ala4351Gly) c.13037C>G (p.Ala4346Gly) c.13034C>G (p.Ala4345Gly) c.13019C>G (p.Ala4340Gly) c.13049C>G (p.Ala4350Gly) | |
19 | g.38565386C>T | CA405673250 | RYR1 | c.1462C>T c.1444C>T c.13052C>T (p.Ala4351Val) c.13037C>T (p.Ala4346Val) c.13034C>T (p.Ala4345Val) c.13019C>T (p.Ala4340Val) c.13049C>T (p.Ala4350Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565387G>A | CA507355848 | RYR1 | c.1463G>A c.1445G>A c.13053G>A (p.Ala4351=) c.13038G>A (p.Ala4346=) c.13035G>A (p.Ala4345=) c.13020G>A (p.Ala4340=) c.13050G>A (p.Ala4350=) | gnomAD v4 |
19 | g.38565387G>C | CA507355849 | RYR1 | c.1463G>C c.1445G>C c.13053G>C (p.Ala4351=) c.13038G>C (p.Ala4346=) c.13035G>C (p.Ala4345=) c.13020G>C (p.Ala4340=) c.13050G>C (p.Ala4350=) | |
19 | g.38565387G>T | CA507355850 | RYR1 | c.1463G>T c.1445G>T c.13053G>T (p.Ala4351=) c.13038G>T (p.Ala4346=) c.13035G>T (p.Ala4345=) c.13020G>T (p.Ala4340=) c.13050G>T (p.Ala4350=) | gnomAD v4 |
19 | g.38565388dup | CA2584909147 | RYR1 | c.1464dup c.1446dup c.13054dup (p.Ala4352GlyfsTer?) c.13039dup (p.Ala4347GlyfsTer?) c.13036dup (p.Ala4346GlyfsTer?) c.13021dup (p.Ala4341GlyfsTer?) c.13051dup (p.Ala4351GlyfsTer?) | gnomAD v4 |
19 | g.38565388G>A | CA405673251 | RYR1 | c.1464G>A c.1446G>A c.13054G>A (p.Ala4352Thr) c.13039G>A (p.Ala4347Thr) c.13036G>A (p.Ala4346Thr) c.13021G>A (p.Ala4341Thr) c.13051G>A (p.Ala4351Thr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565388G>C | CA405673253 | RYR1 | c.1464G>C c.1446G>C c.13054G>C (p.Ala4352Pro) c.13039G>C (p.Ala4347Pro) c.13036G>C (p.Ala4346Pro) c.13021G>C (p.Ala4341Pro) c.13051G>C (p.Ala4351Pro) | ClinVar dbSNP gnomAD v4 |
19 | g.38565388G= | CA2335084851 | RYR1 | c.1464G= c.1446G= c.13054G= (p.Ala4352=) c.13039G= (p.Ala4347=) c.13036G= (p.Ala4346=) c.13021G= (p.Ala4341=) c.13051G= (p.Ala4351=) | |
19 | g.38565388G>T | CA405673256 | RYR1 | c.1464G>T c.1446G>T c.13054G>T (p.Ala4352Ser) c.13039G>T (p.Ala4347Ser) c.13036G>T (p.Ala4346Ser) c.13021G>T (p.Ala4341Ser) c.13051G>T (p.Ala4351Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565389C>A | CA405673264 | RYR1 | c.1465C>A c.1447C>A c.13055C>A (p.Ala4352Glu) c.13040C>A (p.Ala4347Glu) c.13037C>A (p.Ala4346Glu) c.13022C>A (p.Ala4341Glu) c.13052C>A (p.Ala4351Glu) | gnomAD v4 |
19 | g.38565389C= | CA2335084853 | RYR1 | c.1465C= c.1447C= c.13055C= (p.Ala4352=) c.13040C= (p.Ala4347=) c.13037C= (p.Ala4346=) c.13022C= (p.Ala4341=) c.13052C= (p.Ala4351=) | |
19 | g.38565389C>G | CA405673261 | RYR1 | c.1465C>G c.1447C>G c.13055C>G (p.Ala4352Gly) c.13040C>G (p.Ala4347Gly) c.13037C>G (p.Ala4346Gly) c.13022C>G (p.Ala4341Gly) c.13052C>G (p.Ala4351Gly) | gnomAD v4 |
19 | g.38565389C>T | CA405673259 | RYR1 | c.1465C>T c.1447C>T c.13055C>T (p.Ala4352Val) c.13040C>T (p.Ala4347Val) c.13037C>T (p.Ala4346Val) c.13022C>T (p.Ala4341Val) c.13052C>T (p.Ala4351Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565389_38565390delinsCG | CA2335084852 | RYR1 | c.1465_1466delinsCG c.1447_1448delinsCG c.13055_13056delinsCG (p.Ala4352=) c.13040_13041delinsCG (p.Ala4347=) c.13037_13038delinsCG (p.Ala4346=) c.13022_13023delinsCG (p.Ala4341=) c.13052_13053delinsCG (p.Ala4351=) | |
19 | g.38565390G>A | CA507355851 | RYR1 | c.1466G>A c.1448G>A c.13056G>A (p.Ala4352=) c.13041G>A (p.Ala4347=) c.13038G>A (p.Ala4346=) c.13023G>A (p.Ala4341=) c.13053G>A (p.Ala4351=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565390G>C | CA507355852 | RYR1 | c.1466G>C c.1448G>C c.13056G>C (p.Ala4352=) c.13041G>C (p.Ala4347=) c.13038G>C (p.Ala4346=) c.13023G>C (p.Ala4341=) c.13053G>C (p.Ala4351=) | |
19 | g.38565390G= | CA2335084854 | RYR1 | c.1466G= c.1448G= c.13056G= (p.Ala4352=) c.13041G= (p.Ala4347=) c.13038G= (p.Ala4346=) c.13023G= (p.Ala4341=) c.13053G= (p.Ala4351=) | |
19 | g.38565390G>T | CA507355853 | RYR1 | c.1466G>T c.1448G>T c.13056G>T (p.Ala4352=) c.13041G>T (p.Ala4347=) c.13038G>T (p.Ala4346=) c.13023G>T (p.Ala4341=) c.13053G>T (p.Ala4351=) | gnomAD v4 |
19 | g.38565392del | CA882058936 | RYR1 | c.1468del c.1450del c.13058del (p.Gly4353AlafsTer22) c.13043del (p.Gly4348AlafsTer22) c.13040del (p.Gly4347AlafsTer22) c.13025del (p.Gly4342AlafsTer22) c.13055del (p.Gly4352AlafsTer22) | ClinVar dbSNP gnomAD v4 |
19 | g.38565391G>A | CA405673266 | RYR1 | c.1467G>A c.1449G>A c.13057G>A (p.Gly4353Ser) c.13042G>A (p.Gly4348Ser) c.13039G>A (p.Gly4347Ser) c.13024G>A (p.Gly4342Ser) c.13054G>A (p.Gly4352Ser) | gnomAD v4 |
19 | g.38565391G>C | CA405673268 | RYR1 | c.1467G>C c.1449G>C c.13057G>C (p.Gly4353Arg) c.13042G>C (p.Gly4348Arg) c.13039G>C (p.Gly4347Arg) c.13024G>C (p.Gly4342Arg) c.13054G>C (p.Gly4352Arg) | |
19 | g.38565391G>T | CA405673271 | RYR1 | c.1467G>T c.1449G>T c.13057G>T (p.Gly4353Cys) c.13042G>T (p.Gly4348Cys) c.13039G>T (p.Gly4347Cys) c.13024G>T (p.Gly4342Cys) c.13054G>T (p.Gly4352Cys) | gnomAD v4 |
19 | g.38565392G>A | CA308109483 | RYR1 | c.1468G>A c.1450G>A c.13058G>A (p.Gly4353Asp) c.13043G>A (p.Gly4348Asp) c.13040G>A (p.Gly4347Asp) c.13025G>A (p.Gly4342Asp) c.13055G>A (p.Gly4352Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565392G>C | CA405673273 | RYR1 | c.1468G>C c.1450G>C c.13058G>C (p.Gly4353Ala) c.13043G>C (p.Gly4348Ala) c.13040G>C (p.Gly4347Ala) c.13025G>C (p.Gly4342Ala) c.13055G>C (p.Gly4352Ala) | gnomAD v4 |
19 | g.38565392G= | CA2335084855 | RYR1 | c.1468G= c.1450G= c.13058G= (p.Gly4353=) c.13043G= (p.Gly4348=) c.13040G= (p.Gly4347=) c.13025G= (p.Gly4342=) c.13055G= (p.Gly4352=) | |
19 | g.38565392G>T | CA405673276 | RYR1 | c.1468G>T c.1450G>T c.13058G>T (p.Gly4353Val) c.13043G>T (p.Gly4348Val) c.13040G>T (p.Gly4347Val) c.13025G>T (p.Gly4342Val) c.13055G>T (p.Gly4352Val) | dbSNP gnomAD v4 |
19 | g.38565393C>A | CA507355857 | RYR1 | c.1469C>A c.1451C>A c.13059C>A (p.Gly4353=) c.13044C>A (p.Gly4348=) c.13041C>A (p.Gly4347=) c.13026C>A (p.Gly4342=) c.13056C>A (p.Gly4352=) | gnomAD v4 |
19 | g.38565393C= | CA2335084856 | RYR1 | c.1469C= c.1451C= c.13059C= (p.Gly4353=) c.13044C= (p.Gly4348=) c.13041C= (p.Gly4347=) c.13026C= (p.Gly4342=) c.13056C= (p.Gly4352=) | |
19 | g.38565393C>G | CA308109484 | RYR1 | c.1469C>G c.1451C>G c.13059C>G (p.Gly4353=) c.13044C>G (p.Gly4348=) c.13041C>G (p.Gly4347=) c.13026C>G (p.Gly4342=) c.13056C>G (p.Gly4352=) | dbSNP |
19 | g.38565393C>T | CA507355858 | RYR1 | c.1469C>T c.1451C>T c.13059C>T (p.Gly4353=) c.13044C>T (p.Gly4348=) c.13041C>T (p.Gly4347=) c.13026C>T (p.Gly4342=) c.13056C>T (p.Gly4352=) | gnomAD v4 |
19 | g.38565394G>A | CA405673279 | RYR1 | c.1470G>A c.1452G>A c.13060G>A (p.Ala4354Thr) c.13045G>A (p.Ala4349Thr) c.13042G>A (p.Ala4348Thr) c.13027G>A (p.Ala4343Thr) c.13057G>A (p.Ala4353Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565394G>C | CA405673281 | RYR1 | c.1470G>C c.1452G>C c.13060G>C (p.Ala4354Pro) c.13045G>C (p.Ala4349Pro) c.13042G>C (p.Ala4348Pro) c.13027G>C (p.Ala4343Pro) c.13057G>C (p.Ala4353Pro) | |
19 | g.38565394G= | CA2335084857 | RYR1 | c.1470G= c.1452G= c.13060G= (p.Ala4354=) c.13045G= (p.Ala4349=) c.13042G= (p.Ala4348=) c.13027G= (p.Ala4343=) c.13057G= (p.Ala4353=) | |
19 | g.38565394G>T | CA405673284 | RYR1 | c.1470G>T c.1452G>T c.13060G>T (p.Ala4354Ser) c.13045G>T (p.Ala4349Ser) c.13042G>T (p.Ala4348Ser) c.13027G>T (p.Ala4343Ser) c.13057G>T (p.Ala4353Ser) | dbSNP gnomAD v4 |
19 | g.38565395C>A | CA405673286 | RYR1 | c.1471C>A c.1453C>A c.13061C>A (p.Ala4354Glu) c.13046C>A (p.Ala4349Glu) c.13043C>A (p.Ala4348Glu) c.13028C>A (p.Ala4343Glu) c.13058C>A (p.Ala4353Glu) | gnomAD v4 |
19 | g.38565395C>G | CA405673288 | RYR1 | c.1471C>G c.1453C>G c.13061C>G (p.Ala4354Gly) c.13046C>G (p.Ala4349Gly) c.13043C>G (p.Ala4348Gly) c.13028C>G (p.Ala4343Gly) c.13058C>G (p.Ala4353Gly) | |
19 | g.38565395C>T | CA405673291 | RYR1 | c.1471C>T c.1453C>T c.13061C>T (p.Ala4354Val) c.13046C>T (p.Ala4349Val) c.13043C>T (p.Ala4348Val) c.13028C>T (p.Ala4343Val) c.13058C>T (p.Ala4353Val) | gnomAD v4 |
19 | g.38565396G>A | CA507355860 | RYR1 | c.1472G>A c.1454G>A c.13062G>A (p.Ala4354=) c.13047G>A (p.Ala4349=) c.13044G>A (p.Ala4348=) c.13029G>A (p.Ala4343=) c.13059G>A (p.Ala4353=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565396G>C | CA507355862 | RYR1 | c.1472G>C c.1454G>C c.13062G>C (p.Ala4354=) c.13047G>C (p.Ala4349=) c.13044G>C (p.Ala4348=) c.13029G>C (p.Ala4343=) c.13059G>C (p.Ala4353=) | |
19 | g.38565396G= | CA2335084858 | RYR1 | c.1472G= c.1454G= c.13062G= (p.Ala4354=) c.13047G= (p.Ala4349=) c.13044G= (p.Ala4348=) c.13029G= (p.Ala4343=) c.13059G= (p.Ala4353=) | |
19 | g.38565396G>T | CA507355863 | RYR1 | c.1472G>T c.1454G>T c.13062G>T (p.Ala4354=) c.13047G>T (p.Ala4349=) c.13044G>T (p.Ala4348=) c.13029G>T (p.Ala4343=) c.13059G>T (p.Ala4353=) | ClinVar dbSNP gnomAD v4 |
19 | g.38565396_38565407delinsGCTGGGCCTGCT | CA2335084859 | RYR1 | c.1472_1483delinsGCTGGGCCTGCT c.1454_1465delinsGCTGGGCCTGCT c.13062_13073delinsGCTGGGCCTGCT (p.Ala4354=) c.13047_13058delinsGCTGGGCCTGCT (p.Ala4349=) c.13044_13055delinsGCTGGGCCTGCT (p.Ala4348=) c.13029_13040delinsGCTGGGCCTGCT (p.Ala4343=) c.13059_13070delinsGCTGGGCCTGCT (p.Ala4353=) |