| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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.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.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.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.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.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=) | |
| 19 | g.38565397C>A | CA405673297 | RYR1 | c.1473C>A c.1455C>A c.13063C>A (p.Leu4355Met) c.13048C>A (p.Leu4350Met) c.13045C>A (p.Leu4349Met) c.13030C>A (p.Leu4344Met) c.13060C>A (p.Leu4354Met) | gnomAD v4 |
| 19 | g.38565397C= | CA2335084860 | RYR1 | c.1473C= c.1455C= c.13063C= (p.Leu4355=) c.13048C= (p.Leu4350=) c.13045C= (p.Leu4349=) c.13030C= (p.Leu4344=) c.13060C= (p.Leu4354=) | |
| 19 | g.38565397C>G | CA405673294 | RYR1 | c.1473C>G c.1455C>G c.13063C>G (p.Leu4355Val) c.13048C>G (p.Leu4350Val) c.13045C>G (p.Leu4349Val) c.13030C>G (p.Leu4344Val) c.13060C>G (p.Leu4354Val) | |
| 19 | g.38565397C>T | CA507355865 | RYR1 | c.1473C>T c.1455C>T c.13063C>T (p.Leu4355=) c.13048C>T (p.Leu4350=) c.13045C>T (p.Leu4349=) c.13030C>T (p.Leu4344=) c.13060C>T (p.Leu4354=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565402_38565412del | CA1139666438 | RYR1 | c.1478_1488del c.1460_1470del c.13068_13078del (p.Leu4358AlafsTer?) c.13053_13063del (p.Leu4353AlafsTer?) c.13050_13060del (p.Leu4352AlafsTer?) c.13035_13045del (p.Leu4347AlafsTer?) c.13065_13075del (p.Leu4357AlafsTer?) | ClinVar dbSNP |
| 19 | g.38565398T>A | CA405673299 | RYR1 | c.1474T>A c.1456T>A c.13064T>A (p.Leu4355Gln) c.13049T>A (p.Leu4350Gln) c.13046T>A (p.Leu4349Gln) c.13031T>A (p.Leu4344Gln) c.13061T>A (p.Leu4354Gln) | |
| 19 | g.38565398T>C | CA405673303 | RYR1 | c.1474T>C c.1456T>C c.13064T>C (p.Leu4355Pro) c.13049T>C (p.Leu4350Pro) c.13046T>C (p.Leu4349Pro) c.13031T>C (p.Leu4344Pro) c.13061T>C (p.Leu4354Pro) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38565398T>G | CA405673300 | RYR1 | c.1474T>G c.1456T>G c.13064T>G (p.Leu4355Arg) c.13049T>G (p.Leu4350Arg) c.13046T>G (p.Leu4349Arg) c.13031T>G (p.Leu4344Arg) c.13061T>G (p.Leu4354Arg) | |
| 19 | g.38565399G>A | CA507355866 | RYR1 | c.1G>A c.1475G>A c.1457G>A c.13065G>A (p.Leu4355=) c.13050G>A (p.Leu4350=) c.13047G>A (p.Leu4349=) c.13032G>A (p.Leu4344=) c.13062G>A (p.Leu4354=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565399G>C | CA507355868 | RYR1 | c.1G>C c.1475G>C c.1457G>C c.13065G>C (p.Leu4355=) c.13050G>C (p.Leu4350=) c.13047G>C (p.Leu4349=) c.13032G>C (p.Leu4344=) c.13062G>C (p.Leu4354=) | gnomAD v4 |
| 19 | g.38565399G= | CA2335084861 | RYR1 | c.1G= c.1475G= c.1457G= c.13065G= (p.Leu4355=) c.13050G= (p.Leu4350=) c.13047G= (p.Leu4349=) c.13032G= (p.Leu4344=) c.13062G= (p.Leu4354=) | |
| 19 | g.38565399G>T | CA507355867 | RYR1 | c.1G>T c.1475G>T c.1457G>T c.13065G>T (p.Leu4355=) c.13050G>T (p.Leu4350=) c.13047G>T (p.Leu4349=) c.13032G>T (p.Leu4344=) c.13062G>T (p.Leu4354=) | gnomAD v4 |
| 19 | g.38565401del | CA2584909148 | RYR1 | c.3del c.1477del c.1459del c.13067del (p.Gly4356AlafsTer19) c.13052del (p.Gly4351AlafsTer19) c.13049del (p.Gly4350AlafsTer19) c.13034del (p.Gly4345AlafsTer19) c.13064del (p.Gly4355AlafsTer19) | gnomAD v4 |
| 19 | g.38565400G>A | CA405673306 | RYR1 | c.2G>A c.1476G>A c.1458G>A c.13066G>A (p.Gly4356Ser) c.13051G>A (p.Gly4351Ser) c.13048G>A (p.Gly4350Ser) c.13033G>A (p.Gly4345Ser) c.13063G>A (p.Gly4355Ser) | gnomAD v4 |
| 19 | g.38565400G>C | CA405673309 | RYR1 | c.2G>C c.1476G>C c.1458G>C c.13066G>C (p.Gly4356Arg) c.13051G>C (p.Gly4351Arg) c.13048G>C (p.Gly4350Arg) c.13033G>C (p.Gly4345Arg) c.13063G>C (p.Gly4355Arg) | |
| 19 | g.38565400G= | CA2335084862 | RYR1 | c.2G= c.1476G= c.1458G= c.13066G= (p.Gly4356=) c.13051G= (p.Gly4351=) c.13048G= (p.Gly4350=) c.13033G= (p.Gly4345=) c.13063G= (p.Gly4355=) | |
| 19 | g.38565400G>T | CA405673311 | RYR1 | c.2G>T c.1476G>T c.1458G>T c.13066G>T (p.Gly4356Cys) c.13051G>T (p.Gly4351Cys) c.13048G>T (p.Gly4350Cys) c.13033G>T (p.Gly4345Cys) c.13063G>T (p.Gly4355Cys) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38565401G>A | CA405673315 | RYR1 | c.3G>A c.1477G>A c.1459G>A c.13067G>A (p.Gly4356Asp) c.13052G>A (p.Gly4351Asp) c.13049G>A (p.Gly4350Asp) c.13034G>A (p.Gly4345Asp) c.13064G>A (p.Gly4355Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565401G>C | CA405673316 | RYR1 | c.3G>C c.1477G>C c.1459G>C c.13067G>C (p.Gly4356Ala) c.13052G>C (p.Gly4351Ala) c.13049G>C (p.Gly4350Ala) c.13034G>C (p.Gly4345Ala) c.13064G>C (p.Gly4355Ala) | |
| 19 | g.38565401G= | CA2335084863 | RYR1 | c.3G= c.1477G= c.1459G= c.13067G= (p.Gly4356=) c.13052G= (p.Gly4351=) c.13049G= (p.Gly4350=) c.13034G= (p.Gly4345=) c.13064G= (p.Gly4355=) | |
| 19 | g.38565401G>T | CA405673318 | RYR1 | c.3G>T c.1477G>T c.1459G>T c.13067G>T (p.Gly4356Val) c.13052G>T (p.Gly4351Val) c.13049G>T (p.Gly4350Val) c.13034G>T (p.Gly4345Val) c.13064G>T (p.Gly4355Val) | gnomAD v4 |
| 19 | g.38565402C>A | CA507355870 | RYR1 | c.4C>A c.1478C>A c.1460C>A c.13068C>A (p.Gly4356=) c.13053C>A (p.Gly4351=) c.13050C>A (p.Gly4350=) c.13035C>A (p.Gly4345=) c.13065C>A (p.Gly4355=) | gnomAD v4 |
| 19 | g.38565402C= | CA2335084864 | RYR1 | c.4C= c.1478C= c.1460C= c.13068C= (p.Gly4356=) c.13053C= (p.Gly4351=) c.13050C= (p.Gly4350=) c.13035C= (p.Gly4345=) c.13065C= (p.Gly4355=) | |
| 19 | g.38565402C>G | CA507355871 | RYR1 | c.4C>G c.1478C>G c.1460C>G c.13068C>G (p.Gly4356=) c.13053C>G (p.Gly4351=) c.13050C>G (p.Gly4350=) c.13035C>G (p.Gly4345=) c.13065C>G (p.Gly4355=) | |
| 19 | g.38565402C>T | CA507355872 | RYR1 | c.4C>T c.1478C>T c.1460C>T c.13068C>T (p.Gly4356=) c.13053C>T (p.Gly4351=) c.13050C>T (p.Gly4350=) c.13035C>T (p.Gly4345=) c.13065C>T (p.Gly4355=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565403C>A | CA405673327 | RYR1 | c.5C>A c.1479C>A c.1461C>A c.13069C>A (p.Leu4357Met) c.13054C>A (p.Leu4352Met) c.13051C>A (p.Leu4351Met) c.13036C>A (p.Leu4346Met) c.13066C>A (p.Leu4356Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565403C= | CA2335084865 | RYR1 | c.5C= c.1479C= c.1461C= c.13069C= (p.Leu4357=) c.13054C= (p.Leu4352=) c.13051C= (p.Leu4351=) c.13036C= (p.Leu4346=) c.13066C= (p.Leu4356=) | |
| 19 | g.38565403C>G | CA405673329 | RYR1 | c.5C>G c.1479C>G c.1461C>G c.13069C>G (p.Leu4357Val) c.13054C>G (p.Leu4352Val) c.13051C>G (p.Leu4351Val) c.13036C>G (p.Leu4346Val) c.13066C>G (p.Leu4356Val) | gnomAD v4 |
| 19 | g.38565403C>T | CA507355873 | RYR1 | c.5C>T c.1479C>T c.1461C>T c.13069C>T (p.Leu4357=) c.13054C>T (p.Leu4352=) c.13051C>T (p.Leu4351=) c.13036C>T (p.Leu4346=) c.13066C>T (p.Leu4356=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565404T>A | CA405673340 | RYR1 | c.6T>A c.1480T>A c.1462T>A c.13070T>A (p.Leu4357Gln) c.13055T>A (p.Leu4352Gln) c.13052T>A (p.Leu4351Gln) c.13037T>A (p.Leu4346Gln) c.13067T>A (p.Leu4356Gln) | |
| 19 | g.38565404T>C | CA405673342 | RYR1 | c.6T>C c.1480T>C c.1462T>C c.13070T>C (p.Leu4357Pro) c.13055T>C (p.Leu4352Pro) c.13052T>C (p.Leu4351Pro) c.13037T>C (p.Leu4346Pro) c.13067T>C (p.Leu4356Pro) | gnomAD v4 |
| 19 | g.38565404T>G | CA405673346 | RYR1 | c.6T>G c.1480T>G c.1462T>G c.13070T>G (p.Leu4357Arg) c.13055T>G (p.Leu4352Arg) c.13052T>G (p.Leu4351Arg) c.13037T>G (p.Leu4346Arg) c.13067T>G (p.Leu4356Arg) | gnomAD v4 |
| 19 | g.38565405G>A | CA507355876 | RYR1 | c.7G>A c.1481G>A c.1463G>A c.13071G>A (p.Leu4357=) c.13056G>A (p.Leu4352=) c.13053G>A (p.Leu4351=) c.13038G>A (p.Leu4346=) c.13068G>A (p.Leu4356=) | gnomAD v4 |
| 19 | g.38565405G>C | CA507355879 | RYR1 | c.7G>C c.1481G>C c.1463G>C c.13071G>C (p.Leu4357=) c.13056G>C (p.Leu4352=) c.13053G>C (p.Leu4351=) c.13038G>C (p.Leu4346=) c.13068G>C (p.Leu4356=) | ClinVar dbSNP |
| 19 | g.38565405G>T | CA507355877 | RYR1 | c.7G>T c.1481G>T c.1463G>T c.13071G>T (p.Leu4357=) c.13056G>T (p.Leu4352=) c.13053G>T (p.Leu4351=) c.13038G>T (p.Leu4346=) c.13068G>T (p.Leu4356=) | gnomAD v4 |
| 19 | g.38565406C>A | CA405673354 | RYR1 | c.8C>A c.1482C>A c.1464C>A c.13072C>A (p.Leu4358Ile) c.13057C>A (p.Leu4353Ile) c.13054C>A (p.Leu4352Ile) c.13039C>A (p.Leu4347Ile) c.13069C>A (p.Leu4357Ile) | gnomAD v4 |
| 19 | g.38565406C>G | CA405673351 | RYR1 | c.8C>G c.1482C>G c.1464C>G c.13072C>G (p.Leu4358Val) c.13057C>G (p.Leu4353Val) c.13054C>G (p.Leu4352Val) c.13039C>G (p.Leu4347Val) c.13069C>G (p.Leu4357Val) | |
| 19 | g.38565406C>T | CA405673348 | RYR1 | c.8C>T c.1482C>T c.1464C>T c.13072C>T (p.Leu4358Phe) c.13057C>T (p.Leu4353Phe) c.13054C>T (p.Leu4352Phe) c.13039C>T (p.Leu4347Phe) c.13069C>T (p.Leu4357Phe) | gnomAD v4 |
| 19 | g.38565407T>A | CA405673356 | RYR1 | c.9T>A c.1483T>A c.1465T>A c.13073T>A (p.Leu4358His) c.13058T>A (p.Leu4353His) c.13055T>A (p.Leu4352His) c.13040T>A (p.Leu4347His) c.13070T>A (p.Leu4357His) | |
| 19 | g.38565407T>C | CA405673357 | RYR1 | c.9T>C c.1483T>C c.1465T>C c.13073T>C (p.Leu4358Pro) c.13058T>C (p.Leu4353Pro) c.13055T>C (p.Leu4352Pro) c.13040T>C (p.Leu4347Pro) c.13070T>C (p.Leu4357Pro) | gnomAD v4 |
| 19 | g.38565407T>G | CA405673359 | RYR1 | c.9T>G c.1483T>G c.1465T>G c.13073T>G (p.Leu4358Arg) c.13058T>G (p.Leu4353Arg) c.13055T>G (p.Leu4352Arg) c.13040T>G (p.Leu4347Arg) c.13070T>G (p.Leu4357Arg) | |
| 19 | g.38565408C>A | CA507355880 | RYR1 | c.10C>A c.1484C>A c.1466C>A c.13074C>A (p.Leu4358=) c.13059C>A (p.Leu4353=) c.13056C>A (p.Leu4352=) c.13041C>A (p.Leu4347=) c.13071C>A (p.Leu4357=) | gnomAD v4 |
| 19 | g.38565408C= | CA2335084866 | RYR1 | c.10C= c.1484C= c.1466C= c.13074C= (p.Leu4358=) c.13059C= (p.Leu4353=) c.13056C= (p.Leu4352=) c.13041C= (p.Leu4347=) c.13071C= (p.Leu4357=) | |
| 19 | g.38565408C>G | CA507355881 | RYR1 | c.10C>G c.1484C>G c.1466C>G c.13074C>G (p.Leu4358=) c.13059C>G (p.Leu4353=) c.13056C>G (p.Leu4352=) c.13041C>G (p.Leu4347=) c.13071C>G (p.Leu4357=) | dbSNP |
| 19 | g.38565408C>T | CA507355882 | RYR1 | c.10C>T c.1484C>T c.1466C>T c.13074C>T (p.Leu4358=) c.13059C>T (p.Leu4353=) c.13056C>T (p.Leu4352=) c.13041C>T (p.Leu4347=) c.13071C>T (p.Leu4357=) | ClinVar gnomAD v4 |
| 19 | g.38565409T>A | CA405673363 | RYR1 | c.11T>A c.1485T>A c.1467T>A c.13075T>A (p.Trp4359Arg) c.13060T>A (p.Trp4354Arg) c.13057T>A (p.Trp4353Arg) c.13042T>A (p.Trp4348Arg) c.13072T>A (p.Trp4358Arg) | |
| 19 | g.38565409T>C | CA405673365 | RYR1 | c.11T>C c.1485T>C c.1467T>C c.13075T>C (p.Trp4359Arg) c.13060T>C (p.Trp4354Arg) c.13057T>C (p.Trp4353Arg) c.13042T>C (p.Trp4348Arg) c.13072T>C (p.Trp4358Arg) | |
| 19 | g.38565409T>G | CA405673367 | RYR1 | c.11T>G c.1485T>G c.1467T>G c.13075T>G (p.Trp4359Gly) c.13060T>G (p.Trp4354Gly) c.13057T>G (p.Trp4353Gly) c.13042T>G (p.Trp4348Gly) c.13072T>G (p.Trp4358Gly) | gnomAD v4 |
| 19 | g.38565410G>A | CA405673372 | RYR1 | c.12G>A c.1486G>A c.1468G>A c.13076G>A (p.Trp4359Ter) c.13061G>A (p.Trp4354Ter) c.13058G>A (p.Trp4353Ter) c.13043G>A (p.Trp4348Ter) c.13073G>A (p.Trp4358Ter) | gnomAD v4 |
| 19 | g.38565410G>C | CA405673373 | RYR1 | c.12G>C c.1486G>C c.1468G>C c.13076G>C (p.Trp4359Ser) c.13061G>C (p.Trp4354Ser) c.13058G>C (p.Trp4353Ser) c.13043G>C (p.Trp4348Ser) c.13073G>C (p.Trp4358Ser) | |
| 19 | g.38565410G>T | CA405673375 | RYR1 | c.12G>T c.1486G>T c.1468G>T c.13076G>T (p.Trp4359Leu) c.13061G>T (p.Trp4354Leu) c.13058G>T (p.Trp4353Leu) c.13043G>T (p.Trp4348Leu) c.13073G>T (p.Trp4358Leu) | gnomAD v4 |
| 19 | g.38565411G>A | CA405673376 | RYR1 | c.13G>A c.1487G>A c.1469G>A c.13077G>A (p.Trp4359Ter) c.13062G>A (p.Trp4354Ter) c.13059G>A (p.Trp4353Ter) c.13044G>A (p.Trp4348Ter) c.13074G>A (p.Trp4358Ter) | gnomAD v4 |
| 19 | g.38565411G>C | CA405673378 | RYR1 | c.13G>C c.1487G>C c.1469G>C c.13077G>C (p.Trp4359Cys) c.13062G>C (p.Trp4354Cys) c.13059G>C (p.Trp4353Cys) c.13044G>C (p.Trp4348Cys) c.13074G>C (p.Trp4358Cys) | |
| 19 | g.38565411G>T | CA405673380 | RYR1 | c.13G>T c.1487G>T c.1469G>T c.13077G>T (p.Trp4359Cys) c.13062G>T (p.Trp4354Cys) c.13059G>T (p.Trp4353Cys) c.13044G>T (p.Trp4348Cys) c.13074G>T (p.Trp4358Cys) | gnomAD v4 |
| 19 | g.38565412G>A | CA405673383 | RYR1 | c.14G>A c.1488G>A c.1470G>A c.13078G>A (p.Gly4360Ser) c.13063G>A (p.Gly4355Ser) c.13060G>A (p.Gly4354Ser) c.13045G>A (p.Gly4349Ser) c.13075G>A (p.Gly4359Ser) | |
| 19 | g.38565412G>C | CA405673382 | RYR1 | c.14G>C c.1488G>C c.1470G>C c.13078G>C (p.Gly4360Arg) c.13063G>C (p.Gly4355Arg) c.13060G>C (p.Gly4354Arg) c.13045G>C (p.Gly4349Arg) c.13075G>C (p.Gly4359Arg) | |
| 19 | g.38565412G>T | CA405673381 | RYR1 | c.14G>T c.1488G>T c.1470G>T c.13078G>T (p.Gly4360Cys) c.13063G>T (p.Gly4355Cys) c.13060G>T (p.Gly4354Cys) c.13045G>T (p.Gly4349Cys) c.13075G>T (p.Gly4359Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565413G>A | CA405673388 | RYR1 | c.15G>A c.1489G>A c.1471G>A c.13079G>A (p.Gly4360Asp) c.13064G>A (p.Gly4355Asp) c.13061G>A (p.Gly4354Asp) c.13046G>A (p.Gly4349Asp) c.13076G>A (p.Gly4359Asp) | gnomAD v4 |
| 19 | g.38565413G>C | CA405673385 | RYR1 | c.15G>C c.1489G>C c.1471G>C c.13079G>C (p.Gly4360Ala) c.13064G>C (p.Gly4355Ala) c.13061G>C (p.Gly4354Ala) c.13046G>C (p.Gly4349Ala) c.13076G>C (p.Gly4359Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565413G= | CA2335084867 | RYR1 | c.15G= c.1489G= c.1471G= c.13079G= (p.Gly4360=) c.13064G= (p.Gly4355=) c.13061G= (p.Gly4354=) c.13046G= (p.Gly4349=) c.13076G= (p.Gly4359=) | |
| 19 | g.38565413G>T | CA405673386 | RYR1 | c.15G>T c.1489G>T c.1471G>T c.13079G>T (p.Gly4360Val) c.13064G>T (p.Gly4355Val) c.13061G>T (p.Gly4354Val) c.13046G>T (p.Gly4349Val) c.13076G>T (p.Gly4359Val) | dbSNP gnomAD v4 |
| 19 | g.38565414C>A | CA507355889 | RYR1 | c.16C>A c.1490C>A c.1472C>A c.13080C>A (p.Gly4360=) c.13065C>A (p.Gly4355=) c.13062C>A (p.Gly4354=) c.13047C>A (p.Gly4349=) c.13077C>A (p.Gly4359=) | gnomAD v4 |
| 19 | g.38565414C>G | CA507355886 | RYR1 | c.16C>G c.1490C>G c.1472C>G c.13080C>G (p.Gly4360=) c.13065C>G (p.Gly4355=) c.13062C>G (p.Gly4354=) c.13047C>G (p.Gly4349=) c.13077C>G (p.Gly4359=) | |
| 19 | g.38565414C>T | CA507355888 | RYR1 | c.16C>T c.1490C>T c.1472C>T c.13080C>T (p.Gly4360=) c.13065C>T (p.Gly4355=) c.13062C>T (p.Gly4354=) c.13047C>T (p.Gly4349=) c.13077C>T (p.Gly4359=) | ClinVar gnomAD v4 |
| 19 | g.38565415T>A | CA059555 | RYR1 | c.17T>A c.1491T>A c.1473T>A c.13081T>A (p.Ser4361Thr) c.13066T>A (p.Ser4356Thr) c.13063T>A (p.Ser4355Thr) c.13048T>A (p.Ser4350Thr) c.13078T>A (p.Ser4360Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565415T>C | CA405673390 | RYR1 | c.17T>C c.1491T>C c.1473T>C c.13081T>C (p.Ser4361Pro) c.13066T>C (p.Ser4356Pro) c.13063T>C (p.Ser4355Pro) c.13048T>C (p.Ser4350Pro) c.13078T>C (p.Ser4360Pro) | gnomAD v4 |
| 19 | g.38565415T>G | CA405673392 | RYR1 | c.17T>G c.1491T>G c.1473T>G c.13081T>G (p.Ser4361Ala) c.13066T>G (p.Ser4356Ala) c.13063T>G (p.Ser4355Ala) c.13048T>G (p.Ser4350Ala) c.13078T>G (p.Ser4360Ala) | |
| 19 | g.38565415T= | CA2335084868 | RYR1 | c.17T= c.1491T= c.1473T= c.13081T= (p.Ser4361=) c.13066T= (p.Ser4356=) c.13063T= (p.Ser4355=) c.13048T= (p.Ser4350=) c.13078T= (p.Ser4360=) | |
| 19 | g.38565416del | CA2814346223 | RYR1 | c.18del c.1492del c.1474del c.13082del (p.Ser4361CysfsTer14) c.13067del (p.Ser4356CysfsTer14) c.13064del (p.Ser4355CysfsTer14) c.13049del (p.Ser4350CysfsTer14) c.13079del (p.Ser4360CysfsTer14) | |
| 19 | g.38565416C>A | CA405673393 | RYR1 | c.18C>A c.1492C>A c.1474C>A c.13082C>A (p.Ser4361Ter) c.13067C>A (p.Ser4356Ter) c.13064C>A (p.Ser4355Ter) c.13049C>A (p.Ser4350Ter) c.13079C>A (p.Ser4360Ter) | gnomAD v4 |
| 19 | g.38565416C= | CA2335084869 | RYR1 | c.18C= c.1492C= c.1474C= c.13082C= (p.Ser4361=) c.13067C= (p.Ser4356=) c.13064C= (p.Ser4355=) c.13049C= (p.Ser4350=) c.13079C= (p.Ser4360=) | |
| 19 | g.38565416C>G | CA405673394 | RYR1 | c.18C>G c.1492C>G c.1474C>G c.13082C>G (p.Ser4361Trp) c.13067C>G (p.Ser4356Trp) c.13064C>G (p.Ser4355Trp) c.13049C>G (p.Ser4350Trp) c.13079C>G (p.Ser4360Trp) | |
| 19 | g.38565416C>T | CA405673395 | RYR1 | c.18C>T c.1492C>T c.1474C>T c.13082C>T (p.Ser4361Leu) c.13067C>T (p.Ser4356Leu) c.13064C>T (p.Ser4355Leu) c.13049C>T (p.Ser4350Leu) c.13079C>T (p.Ser4360Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565417G>A | CA507355890 | RYR1 | c.19G>A c.1493G>A c.1475G>A c.13083G>A (p.Ser4361=) c.13068G>A (p.Ser4356=) c.13065G>A (p.Ser4355=) c.13050G>A (p.Ser4350=) c.13080G>A (p.Ser4360=) | ClinVar gnomAD v4 |
| 19 | g.38565417G>C | CA507355891 | RYR1 | c.19G>C c.1493G>C c.1475G>C c.13083G>C (p.Ser4361=) c.13068G>C (p.Ser4356=) c.13065G>C (p.Ser4355=) c.13050G>C (p.Ser4350=) c.13080G>C (p.Ser4360=) | gnomAD v4 |
| 19 | g.38565417G>T | CA507355892 | RYR1 | c.19G>T c.1493G>T c.1475G>T c.13083G>T (p.Ser4361=) c.13068G>T (p.Ser4356=) c.13065G>T (p.Ser4355=) c.13050G>T (p.Ser4350=) c.13080G>T (p.Ser4360=) | gnomAD v4 |
| 19 | g.38565418C>A | CA405673396 | RYR1 | c.20C>A c.1494C>A c.1476C>A c.13084C>A (p.Leu4362Met) c.13069C>A (p.Leu4357Met) c.13066C>A (p.Leu4356Met) c.13051C>A (p.Leu4351Met) c.13081C>A (p.Leu4361Met) | gnomAD v4 |
| 19 | g.38565418C= | CA2335084870 | RYR1 | c.20C= c.1494C= c.1476C= c.13084C= (p.Leu4362=) c.13069C= (p.Leu4357=) c.13066C= (p.Leu4356=) c.13051C= (p.Leu4351=) c.13081C= (p.Leu4361=) | |
| 19 | g.38565418C>G | CA405673397 | RYR1 | c.20C>G c.1494C>G c.1476C>G c.13084C>G (p.Leu4362Val) c.13069C>G (p.Leu4357Val) c.13066C>G (p.Leu4356Val) c.13051C>G (p.Leu4351Val) c.13081C>G (p.Leu4361Val) | gnomAD v4 |
| 19 | g.38565418C>T | CA507355893 | RYR1 | c.20C>T c.1494C>T c.1476C>T c.13084C>T (p.Leu4362=) c.13069C>T (p.Leu4357=) c.13066C>T (p.Leu4356=) c.13051C>T (p.Leu4351=) c.13081C>T (p.Leu4361=) | dbSNP gnomAD v4 |
| 19 | g.38565421_38565435del | CA2576772105 | RYR1 | c.23_37del c.1497_1511del c.1479_1493del c.13087_13101del (p.Phe4363_Leu4367del) c.13072_13086del (p.Phe4358_Leu4362del) c.13069_13083del (p.Phe4357_Leu4361del) c.13054_13068del (p.Phe4352_Leu4356del) c.13084_13098del (p.Phe4362_Leu4366del) | |
| 19 | g.38565419T>A | CA405673400 | RYR1 | c.21T>A c.1495T>A c.1477T>A c.13085T>A (p.Leu4362Gln) c.13070T>A (p.Leu4357Gln) c.13067T>A (p.Leu4356Gln) c.13052T>A (p.Leu4351Gln) c.13082T>A (p.Leu4361Gln) | |
| 19 | g.38565419T>C | CA405673402 | RYR1 | c.21T>C c.1495T>C c.1477T>C c.13085T>C (p.Leu4362Pro) c.13070T>C (p.Leu4357Pro) c.13067T>C (p.Leu4356Pro) c.13052T>C (p.Leu4351Pro) c.13082T>C (p.Leu4361Pro) | gnomAD v4 |
| 19 | g.38565419T>G | CA405673403 | RYR1 | c.21T>G c.1495T>G c.1477T>G c.13085T>G (p.Leu4362Arg) c.13070T>G (p.Leu4357Arg) c.13067T>G (p.Leu4356Arg) c.13052T>G (p.Leu4351Arg) c.13082T>G (p.Leu4361Arg) | |
| 19 | g.38565420G>A | CA507355895 | RYR1 | c.22G>A c.1496G>A c.1478G>A c.13086G>A (p.Leu4362=) c.13071G>A (p.Leu4357=) c.13068G>A (p.Leu4356=) c.13053G>A (p.Leu4351=) c.13083G>A (p.Leu4361=) | gnomAD v4 |
| 19 | g.38565420G>C | CA507355898 | RYR1 | c.22G>C c.1496G>C c.1478G>C c.13086G>C (p.Leu4362=) c.13071G>C (p.Leu4357=) c.13068G>C (p.Leu4356=) c.13053G>C (p.Leu4351=) c.13083G>C (p.Leu4361=) | ClinVar |
| 19 | g.38565420G>T | CA507355896 | RYR1 | c.22G>T c.1496G>T c.1478G>T c.13086G>T (p.Leu4362=) c.13071G>T (p.Leu4357=) c.13068G>T (p.Leu4356=) c.13053G>T (p.Leu4351=) c.13083G>T (p.Leu4361=) | |
| 19 | g.38565421T>A | CA405673406 | RYR1 | c.23T>A c.1497T>A c.1479T>A c.13087T>A (p.Phe4363Ile) c.13072T>A (p.Phe4358Ile) c.13069T>A (p.Phe4357Ile) c.13054T>A (p.Phe4352Ile) c.13084T>A (p.Phe4362Ile) | |
| 19 | g.38565421T>C | CA405673404 | RYR1 | c.23T>C c.1497T>C c.1479T>C c.13087T>C (p.Phe4363Leu) c.13072T>C (p.Phe4358Leu) c.13069T>C (p.Phe4357Leu) c.13054T>C (p.Phe4352Leu) c.13084T>C (p.Phe4362Leu) | dbSNP gnomAD v4 |
| 19 | g.38565421T>G | CA405673405 | RYR1 | c.23T>G c.1497T>G c.1479T>G c.13087T>G (p.Phe4363Val) c.13072T>G (p.Phe4358Val) c.13069T>G (p.Phe4357Val) c.13054T>G (p.Phe4352Val) c.13084T>G (p.Phe4362Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565421T= | CA2335084871 | RYR1 | c.23T= c.1497T= c.1479T= c.13087T= (p.Phe4363=) c.13072T= (p.Phe4358=) c.13069T= (p.Phe4357=) c.13054T= (p.Phe4352=) c.13084T= (p.Phe4362=) | |
| 19 | g.38565422T>A | CA405673407 | RYR1 | c.24T>A c.1498T>A c.1480T>A c.13088T>A (p.Phe4363Tyr) c.13073T>A (p.Phe4358Tyr) c.13070T>A (p.Phe4357Tyr) c.13055T>A (p.Phe4352Tyr) c.13085T>A (p.Phe4362Tyr) | |
| 19 | g.38565422T>C | CA405673408 | RYR1 | c.24T>C c.1498T>C c.1480T>C c.13088T>C (p.Phe4363Ser) c.13073T>C (p.Phe4358Ser) c.13070T>C (p.Phe4357Ser) c.13055T>C (p.Phe4352Ser) c.13085T>C (p.Phe4362Ser) | gnomAD v4 |
| 19 | g.38565422T>G | CA405673409 | RYR1 | c.24T>G c.1498T>G c.1480T>G c.13088T>G (p.Phe4363Cys) c.13073T>G (p.Phe4358Cys) c.13070T>G (p.Phe4357Cys) c.13055T>G (p.Phe4352Cys) c.13085T>G (p.Phe4362Cys) | |
| 19 | g.38565423C>A | CA059563 | RYR1 | c.25C>A c.1499C>A c.1481C>A c.13089C>A (p.Phe4363Leu) c.13074C>A (p.Phe4358Leu) c.13071C>A (p.Phe4357Leu) c.13056C>A (p.Phe4352Leu) c.13086C>A (p.Phe4362Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565423C= | CA2335084872 | RYR1 | c.25C= c.1499C= c.1481C= c.13089C= (p.Phe4363=) c.13074C= (p.Phe4358=) c.13071C= (p.Phe4357=) c.13056C= (p.Phe4352=) c.13086C= (p.Phe4362=) | |
| 19 | g.38565423C>G | CA405673413 | RYR1 | c.25C>G c.1499C>G c.1481C>G c.13089C>G (p.Phe4363Leu) c.13074C>G (p.Phe4358Leu) c.13071C>G (p.Phe4357Leu) c.13056C>G (p.Phe4352Leu) c.13086C>G (p.Phe4362Leu) | gnomAD v4 |
| 19 | g.38565423C>T | CA507355899 | RYR1 | c.25C>T c.1499C>T c.1481C>T c.13089C>T (p.Phe4363=) c.13074C>T (p.Phe4358=) c.13071C>T (p.Phe4357=) c.13056C>T (p.Phe4352=) c.13086C>T (p.Phe4362=) | gnomAD v4 |
| 19 | g.38565424G>A | CA405673415 | RYR1 | c.26G>A c.1500G>A c.1482G>A c.13090G>A (p.Gly4364Ser) c.13075G>A (p.Gly4359Ser) c.13072G>A (p.Gly4358Ser) c.13057G>A (p.Gly4353Ser) c.13087G>A (p.Gly4363Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565424G>C | CA405673417 | RYR1 | c.26G>C c.1500G>C c.1482G>C c.13090G>C (p.Gly4364Arg) c.13075G>C (p.Gly4359Arg) c.13072G>C (p.Gly4358Arg) c.13057G>C (p.Gly4353Arg) c.13087G>C (p.Gly4363Arg) | gnomAD v4 |
| 19 | g.38565424G= | CA2335084873 | RYR1 | c.26G= c.1500G= c.1482G= c.13090G= (p.Gly4364=) c.13075G= (p.Gly4359=) c.13072G= (p.Gly4358=) c.13057G= (p.Gly4353=) c.13087G= (p.Gly4363=) | |
| 19 | g.38565424G>T | CA405673418 | RYR1 | c.26G>T c.1500G>T c.1482G>T c.13090G>T (p.Gly4364Cys) c.13075G>T (p.Gly4359Cys) c.13072G>T (p.Gly4358Cys) c.13057G>T (p.Gly4353Cys) c.13087G>T (p.Gly4363Cys) | gnomAD v4 |
| 19 | g.38565425G>A | CA405673419 | RYR1 | c.27G>A c.1501G>A c.1483G>A c.13091G>A (p.Gly4364Asp) c.13076G>A (p.Gly4359Asp) c.13073G>A (p.Gly4358Asp) c.13058G>A (p.Gly4353Asp) c.13088G>A (p.Gly4363Asp) | gnomAD v4 |
| 19 | g.38565425G>C | CA405673420 | RYR1 | c.27G>C c.1501G>C c.1483G>C c.13091G>C (p.Gly4364Ala) c.13076G>C (p.Gly4359Ala) c.13073G>C (p.Gly4358Ala) c.13058G>C (p.Gly4353Ala) c.13088G>C (p.Gly4363Ala) | ClinVar dbSNP |
| 19 | g.38565425G= | CA2335084874 | RYR1 | c.27G= c.1501G= c.1483G= c.13091G= (p.Gly4364=) c.13076G= (p.Gly4359=) c.13073G= (p.Gly4358=) c.13058G= (p.Gly4353=) c.13088G= (p.Gly4363=) | |
| 19 | g.38565425G>T | CA405673421 | RYR1 | c.27G>T c.1501G>T c.1483G>T c.13091G>T (p.Gly4364Val) c.13076G>T (p.Gly4359Val) c.13073G>T (p.Gly4358Val) c.13058G>T (p.Gly4353Val) c.13088G>T (p.Gly4363Val) | gnomAD v4 |
| 19 | g.38565426C>A | CA080784 | RYR1 | c.28C>A c.1502C>A c.1484C>A c.13092C>A (p.Gly4364=) c.13077C>A (p.Gly4359=) c.13074C>A (p.Gly4358=) c.13059C>A (p.Gly4353=) c.13089C>A (p.Gly4363=) | gnomAD v4 |
| 19 | g.38565426C= | CA2335084875 | RYR1 | c.28C= c.1502C= c.1484C= c.13092C= (p.Gly4364=) c.13077C= (p.Gly4359=) c.13074C= (p.Gly4358=) c.13059C= (p.Gly4353=) c.13089C= (p.Gly4363=) | |
| 19 | g.38565426C>G | CA507355584 | RYR1 | c.28C>G c.1502C>G c.1484C>G c.13092C>G (p.Gly4364=) c.13077C>G (p.Gly4359=) c.13074C>G (p.Gly4358=) c.13059C>G (p.Gly4353=) c.13089C>G (p.Gly4363=) | gnomAD v4 |
| 19 | g.38565426C>T | CA308109492 | RYR1 | c.28C>T c.1502C>T c.1484C>T c.13092C>T (p.Gly4364=) c.13077C>T (p.Gly4359=) c.13074C>T (p.Gly4358=) c.13059C>T (p.Gly4353=) c.13089C>T (p.Gly4363=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565427G>A | CA405673424 | RYR1 | c.29G>A c.1503G>A c.1485G>A c.13093G>A (p.Gly4365Ser) c.13078G>A (p.Gly4360Ser) c.13075G>A (p.Gly4359Ser) c.13060G>A (p.Gly4354Ser) c.13090G>A (p.Gly4364Ser) | dbSNP gnomAD v4 |
| 19 | g.38565427G>C | CA405673423 | RYR1 | c.29G>C c.1503G>C c.1485G>C c.13093G>C (p.Gly4365Arg) c.13078G>C (p.Gly4360Arg) c.13075G>C (p.Gly4359Arg) c.13060G>C (p.Gly4354Arg) c.13090G>C (p.Gly4364Arg) | |
| 19 | g.38565427G= | CA2335084876 | RYR1 | c.29G= c.1503G= c.1485G= c.13093G= (p.Gly4365=) c.13078G= (p.Gly4360=) c.13075G= (p.Gly4359=) c.13060G= (p.Gly4354=) c.13090G= (p.Gly4364=) | |
| 19 | g.38565427G>T | CA405673422 | RYR1 | c.29G>T c.1503G>T c.1485G>T c.13093G>T (p.Gly4365Cys) c.13078G>T (p.Gly4360Cys) c.13075G>T (p.Gly4359Cys) c.13060G>T (p.Gly4354Cys) c.13090G>T (p.Gly4364Cys) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38565428G>A | CA405673425 | RYR1 | c.30G>A c.1504G>A c.1486G>A c.13094G>A (p.Gly4365Asp) c.13079G>A (p.Gly4360Asp) c.13076G>A (p.Gly4359Asp) c.13061G>A (p.Gly4354Asp) c.13091G>A (p.Gly4364Asp) | gnomAD v4 |
| 19 | g.38565428G>C | CA405673429 | RYR1 | c.30G>C c.1504G>C c.1486G>C c.13094G>C (p.Gly4365Ala) c.13079G>C (p.Gly4360Ala) c.13076G>C (p.Gly4359Ala) c.13061G>C (p.Gly4354Ala) c.13091G>C (p.Gly4364Ala) | |
| 19 | g.38565428G>T | CA405673427 | RYR1 | c.30G>T c.1504G>T c.1486G>T c.13094G>T (p.Gly4365Val) c.13079G>T (p.Gly4360Val) c.13076G>T (p.Gly4359Val) c.13061G>T (p.Gly4354Val) c.13091G>T (p.Gly4364Val) | gnomAD v4 |
| 19 | g.38565429C>A | CA507355591 | RYR1 | c.31C>A c.1505C>A c.1487C>A c.13095C>A (p.Gly4365=) c.13080C>A (p.Gly4360=) c.13077C>A (p.Gly4359=) c.13062C>A (p.Gly4354=) c.13092C>A (p.Gly4364=) | ClinVar gnomAD v4 |
| 19 | g.38565429C>G | CA507355592 | RYR1 | c.31C>G c.1505C>G c.1487C>G c.13095C>G (p.Gly4365=) c.13080C>G (p.Gly4360=) c.13077C>G (p.Gly4359=) c.13062C>G (p.Gly4354=) c.13092C>G (p.Gly4364=) | |
| 19 | g.38565429C>T | CA507355593 | RYR1 | c.31C>T c.1505C>T c.1487C>T c.13095C>T (p.Gly4365=) c.13080C>T (p.Gly4360=) c.13077C>T (p.Gly4359=) c.13062C>T (p.Gly4354=) c.13092C>T (p.Gly4364=) | gnomAD v4 |
| 19 | g.38565430G>A | CA405673430 | RYR1 | c.32G>A c.1506G>A c.1488G>A c.13096G>A (p.Gly4366Ser) c.13081G>A (p.Gly4361Ser) c.13078G>A (p.Gly4360Ser) c.13063G>A (p.Gly4355Ser) c.13093G>A (p.Gly4365Ser) | gnomAD v4 |
| 19 | g.38565430G>C | CA405673432 | RYR1 | c.32G>C c.1506G>C c.1488G>C c.13096G>C (p.Gly4366Arg) c.13081G>C (p.Gly4361Arg) c.13078G>C (p.Gly4360Arg) c.13063G>C (p.Gly4355Arg) c.13093G>C (p.Gly4365Arg) | |
| 19 | g.38565430G= | CA2335084877 | RYR1 | c.32G= c.1506G= c.1488G= c.13096G= (p.Gly4366=) c.13081G= (p.Gly4361=) c.13078G= (p.Gly4360=) c.13063G= (p.Gly4355=) c.13093G= (p.Gly4365=) | |
| 19 | g.38565430G>T | CA405673433 | RYR1 | c.32G>T c.1506G>T c.1488G>T c.13096G>T (p.Gly4366Cys) c.13081G>T (p.Gly4361Cys) c.13078G>T (p.Gly4360Cys) c.13063G>T (p.Gly4355Cys) c.13093G>T (p.Gly4365Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565431G>A | CA405673437 | RYR1 | c.33G>A c.1507G>A c.1489G>A c.13097G>A (p.Gly4366Asp) c.13082G>A (p.Gly4361Asp) c.13079G>A (p.Gly4360Asp) c.13064G>A (p.Gly4355Asp) c.13094G>A (p.Gly4365Asp) | gnomAD v4 |
| 19 | g.38565431G>C | CA405673438 | RYR1 | c.33G>C c.1507G>C c.1489G>C c.13097G>C (p.Gly4366Ala) c.13082G>C (p.Gly4361Ala) c.13079G>C (p.Gly4360Ala) c.13064G>C (p.Gly4355Ala) c.13094G>C (p.Gly4365Ala) | gnomAD v4 |
| 19 | g.38565431G>T | CA405673440 | RYR1 | c.33G>T c.1507G>T c.1489G>T c.13097G>T (p.Gly4366Val) c.13082G>T (p.Gly4361Val) c.13079G>T (p.Gly4360Val) c.13064G>T (p.Gly4355Val) c.13094G>T (p.Gly4365Val) | gnomAD v4 |
| 19 | g.38565432C>A | CA507355598 | RYR1 | c.34C>A c.1508C>A c.1490C>A c.13098C>A (p.Gly4366=) c.13083C>A (p.Gly4361=) c.13080C>A (p.Gly4360=) c.13065C>A (p.Gly4355=) c.13095C>A (p.Gly4365=) | gnomAD v4 |
| 19 | g.38565432C>G | CA507355599 | RYR1 | c.34C>G c.1508C>G c.1490C>G c.13098C>G (p.Gly4366=) c.13083C>G (p.Gly4361=) c.13080C>G (p.Gly4360=) c.13065C>G (p.Gly4355=) c.13095C>G (p.Gly4365=) | gnomAD v4 |
| 19 | g.38565432C>T | CA507355601 | RYR1 | c.34C>T c.1508C>T c.1490C>T c.13098C>T (p.Gly4366=) c.13083C>T (p.Gly4361=) c.13080C>T (p.Gly4360=) c.13065C>T (p.Gly4355=) c.13095C>T (p.Gly4365=) | gnomAD v4 |
| 19 | g.38565433C>A | CA405673441 | RYR1 | c.35C>A c.1509C>A c.1491C>A c.13099C>A (p.Leu4367Met) c.13084C>A (p.Leu4362Met) c.13081C>A (p.Leu4361Met) c.13066C>A (p.Leu4356Met) c.13096C>A (p.Leu4366Met) | gnomAD v4 |
| 19 | g.38565433C>G | CA405673443 | RYR1 | c.35C>G c.1509C>G c.1491C>G c.13099C>G (p.Leu4367Val) c.13084C>G (p.Leu4362Val) c.13081C>G (p.Leu4361Val) c.13066C>G (p.Leu4356Val) c.13096C>G (p.Leu4366Val) | |
| 19 | g.38565433C>T | CA507355604 | RYR1 | c.35C>T c.1509C>T c.1491C>T c.13099C>T (p.Leu4367=) c.13084C>T (p.Leu4362=) c.13081C>T (p.Leu4361=) c.13066C>T (p.Leu4356=) c.13096C>T (p.Leu4366=) | gnomAD v4 |
| 19 | g.38565434T>A | CA405673453 | RYR1 | c.36T>A c.1510T>A c.1492T>A c.13100T>A (p.Leu4367Gln) c.13085T>A (p.Leu4362Gln) c.13082T>A (p.Leu4361Gln) c.13067T>A (p.Leu4356Gln) c.13097T>A (p.Leu4366Gln) | |
| 19 | g.38565434T>C | CA405673454 | RYR1 | c.36T>C c.1510T>C c.1492T>C c.13100T>C (p.Leu4367Pro) c.13085T>C (p.Leu4362Pro) c.13082T>C (p.Leu4361Pro) c.13067T>C (p.Leu4356Pro) c.13097T>C (p.Leu4366Pro) | gnomAD v4 |
| 19 | g.38565434T>G | CA405673456 | RYR1 | c.36T>G c.1510T>G c.1492T>G c.13100T>G (p.Leu4367Arg) c.13085T>G (p.Leu4362Arg) c.13082T>G (p.Leu4361Arg) c.13067T>G (p.Leu4356Arg) c.13097T>G (p.Leu4366Arg) | |
| 19 | g.38565435G>A | CA507355609 | RYR1 | c.37G>A c.1511G>A c.1493G>A c.13101G>A (p.Leu4367=) c.13086G>A (p.Leu4362=) c.13083G>A (p.Leu4361=) c.13068G>A (p.Leu4356=) c.13098G>A (p.Leu4366=) | gnomAD v4 |
| 19 | g.38565435G>C | CA507355607 | RYR1 | c.37G>C c.1511G>C c.1493G>C c.13101G>C (p.Leu4367=) c.13086G>C (p.Leu4362=) c.13083G>C (p.Leu4361=) c.13068G>C (p.Leu4356=) c.13098G>C (p.Leu4366=) | |
| 19 | g.38565435G>T | CA507355608 | RYR1 | c.37G>T c.1511G>T c.1493G>T c.13101G>T (p.Leu4367=) c.13086G>T (p.Leu4362=) c.13083G>T (p.Leu4361=) c.13068G>T (p.Leu4356=) c.13098G>T (p.Leu4366=) | gnomAD v4 |
| 19 | g.38565436G>A | CA405673461 | RYR1 | c.38G>A c.1512G>A c.1494G>A c.13102G>A (p.Val4368Met) c.13087G>A (p.Val4363Met) c.13084G>A (p.Val4362Met) c.13069G>A (p.Val4357Met) c.13099G>A (p.Val4367Met) | gnomAD v4 |
| 19 | g.38565436G>C | CA405673459 | RYR1 | c.38G>C c.1512G>C c.1494G>C c.13102G>C (p.Val4368Leu) c.13087G>C (p.Val4363Leu) c.13084G>C (p.Val4362Leu) c.13069G>C (p.Val4357Leu) c.13099G>C (p.Val4367Leu) | |
| 19 | g.38565436G= | CA2335084878 | RYR1 | c.38G= c.1512G= c.1494G= c.13102G= (p.Val4368=) c.13087G= (p.Val4363=) c.13084G= (p.Val4362=) c.13069G= (p.Val4357=) c.13099G= (p.Val4367=) | |
| 19 | g.38565436G>T | CA405673460 | RYR1 | c.38G>T c.1512G>T c.1494G>T c.13102G>T (p.Val4368Leu) c.13087G>T (p.Val4363Leu) c.13084G>T (p.Val4362Leu) c.13069G>T (p.Val4357Leu) c.13099G>T (p.Val4367Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565437T>A | CA405673462 | RYR1 | c.39T>A c.1513T>A c.1495T>A c.13103T>A (p.Val4368Glu) c.13088T>A (p.Val4363Glu) c.13085T>A (p.Val4362Glu) c.13070T>A (p.Val4357Glu) c.13100T>A (p.Val4367Glu) | |
| 19 | g.38565437T>C | CA405673463 | RYR1 | c.39T>C c.1513T>C c.1495T>C c.13103T>C (p.Val4368Ala) c.13088T>C (p.Val4363Ala) c.13085T>C (p.Val4362Ala) c.13070T>C (p.Val4357Ala) c.13100T>C (p.Val4367Ala) | gnomAD v4 |
| 19 | g.38565437T>G | CA405673464 | RYR1 | c.39T>G c.1513T>G c.1495T>G c.13103T>G (p.Val4368Gly) c.13088T>G (p.Val4363Gly) c.13085T>G (p.Val4362Gly) c.13070T>G (p.Val4357Gly) c.13100T>G (p.Val4367Gly) | gnomAD v4 |
| 19 | g.38565438G>A | CA507355614 | RYR1 | c.40G>A c.1514G>A c.1496G>A c.13104G>A (p.Val4368=) c.13089G>A (p.Val4363=) c.13086G>A (p.Val4362=) c.13071G>A (p.Val4357=) c.13101G>A (p.Val4367=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38565438G>C | CA507355615 | RYR1 | c.40G>C c.1514G>C c.1496G>C c.13104G>C (p.Val4368=) c.13089G>C (p.Val4363=) c.13086G>C (p.Val4362=) c.13071G>C (p.Val4357=) c.13101G>C (p.Val4367=) | |
| 19 | g.38565438G= | CA2335084879 | RYR1 | c.40G= c.1514G= c.1496G= c.13104G= (p.Val4368=) c.13089G= (p.Val4363=) c.13086G= (p.Val4362=) c.13071G= (p.Val4357=) c.13101G= (p.Val4367=) | |
| 19 | g.38565438G>T | CA507355616 | RYR1 | c.40G>T c.1514G>T c.1496G>T c.13104G>T (p.Val4368=) c.13089G>T (p.Val4363=) c.13086G>T (p.Val4362=) c.13071G>T (p.Val4357=) c.13101G>T (p.Val4367=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565439G>A | CA405673465 | RYR1 | c.41G>A c.1515G>A c.1497G>A c.13105G>A (p.Glu4369Lys) c.13090G>A (p.Glu4364Lys) c.13087G>A (p.Glu4363Lys) c.13072G>A (p.Glu4358Lys) c.13102G>A (p.Glu4368Lys) | gnomAD v4 |
| 19 | g.38565439G>C | CA405673467 | RYR1 | c.41G>C c.1515G>C c.1497G>C c.13105G>C (p.Glu4369Gln) c.13090G>C (p.Glu4364Gln) c.13087G>C (p.Glu4363Gln) c.13072G>C (p.Glu4358Gln) c.13102G>C (p.Glu4368Gln) | |
| 19 | g.38565439G>T | CA405673470 | RYR1 | c.41G>T c.1515G>T c.1497G>T c.13105G>T (p.Glu4369Ter) c.13090G>T (p.Glu4364Ter) c.13087G>T (p.Glu4363Ter) c.13072G>T (p.Glu4358Ter) c.13102G>T (p.Glu4368Ter) | gnomAD v4 |
| 19 | g.38565440A>C | CA405673473 | RYR1 | c.42A>C c.1516A>C c.1498A>C c.13106A>C (p.Glu4369Ala) c.13091A>C (p.Glu4364Ala) c.13088A>C (p.Glu4363Ala) c.13073A>C (p.Glu4358Ala) c.13103A>C (p.Glu4368Ala) | |
| 19 | g.38565440A>G | CA405673474 | RYR1 | c.42A>G c.1516A>G c.1498A>G c.13106A>G (p.Glu4369Gly) c.13091A>G (p.Glu4364Gly) c.13088A>G (p.Glu4363Gly) c.13073A>G (p.Glu4358Gly) c.13103A>G (p.Glu4368Gly) | gnomAD v4 |
| 19 | g.38565440A>T | CA405673476 | RYR1 | c.42A>T c.1516A>T c.1498A>T c.13106A>T (p.Glu4369Val) c.13091A>T (p.Glu4364Val) c.13088A>T (p.Glu4363Val) c.13073A>T (p.Glu4358Val) c.13103A>T (p.Glu4368Val) | gnomAD v4 |
| 19 | g.38565441G>A | CA507355621 | RYR1 | c.43G>A c.1517G>A c.1499G>A c.13107G>A (p.Glu4369=) c.13092G>A (p.Glu4364=) c.13089G>A (p.Glu4363=) c.13074G>A (p.Glu4358=) c.13104G>A (p.Glu4368=) | gnomAD v4 |
| 19 | g.38565441G>C | CA405673479 | RYR1 | c.43G>C c.1517G>C c.1499G>C c.13107G>C (p.Glu4369Asp) c.13092G>C (p.Glu4364Asp) c.13089G>C (p.Glu4363Asp) c.13074G>C (p.Glu4358Asp) c.13104G>C (p.Glu4368Asp) | |
| 19 | g.38565441G>T | CA405673482 | RYR1 | c.43G>T c.1517G>T c.1499G>T c.13107G>T (p.Glu4369Asp) c.13092G>T (p.Glu4364Asp) c.13089G>T (p.Glu4363Asp) c.13074G>T (p.Glu4358Asp) c.13104G>T (p.Glu4368Asp) | gnomAD v4 |
| 19 | g.38565442G>A | CA405673496 | RYR1 | c.44G>A c.1518G>A c.1500G>A c.13108G>A (p.Gly4370Ser) c.13093G>A (p.Gly4365Ser) c.13090G>A (p.Gly4364Ser) c.13075G>A (p.Gly4359Ser) c.13105G>A (p.Gly4369Ser) | gnomAD v4 |
| 19 | g.38565442G>C | CA405673494 | RYR1 | c.44G>C c.1518G>C c.1500G>C c.13108G>C (p.Gly4370Arg) c.13093G>C (p.Gly4365Arg) c.13090G>C (p.Gly4364Arg) c.13075G>C (p.Gly4359Arg) c.13105G>C (p.Gly4369Arg) | |
| 19 | g.38565442G>T | CA405673485 | RYR1 | c.44G>T c.1518G>T c.1500G>T c.13108G>T (p.Gly4370Cys) c.13093G>T (p.Gly4365Cys) c.13090G>T (p.Gly4364Cys) c.13075G>T (p.Gly4359Cys) c.13105G>T (p.Gly4369Cys) | gnomAD v4 |
| 19 | g.38565443G>A | CA405673505 | RYR1 | c.45G>A c.1519G>A c.1501G>A c.13109G>A (p.Gly4370Asp) c.13094G>A (p.Gly4365Asp) c.13091G>A (p.Gly4364Asp) c.13076G>A (p.Gly4359Asp) c.13106G>A (p.Gly4369Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565443G>C | CA405673501 | RYR1 | c.45G>C c.1519G>C c.1501G>C c.13109G>C (p.Gly4370Ala) c.13094G>C (p.Gly4365Ala) c.13091G>C (p.Gly4364Ala) c.13076G>C (p.Gly4359Ala) c.13106G>C (p.Gly4369Ala) | |
| 19 | g.38565443G= | CA2335084880 | RYR1 | c.45G= c.1519G= c.1501G= c.13109G= (p.Gly4370=) c.13094G= (p.Gly4365=) c.13091G= (p.Gly4364=) c.13076G= (p.Gly4359=) c.13106G= (p.Gly4369=) | |
| 19 | g.38565443G>T | CA405673502 | RYR1 | c.45G>T c.1519G>T c.1501G>T c.13109G>T (p.Gly4370Val) c.13094G>T (p.Gly4365Val) c.13091G>T (p.Gly4364Val) c.13076G>T (p.Gly4359Val) c.13106G>T (p.Gly4369Val) | gnomAD v4 |
| 19 | g.38565444C>A | CA507355629 | RYR1 | c.46C>A c.1520C>A c.1502C>A c.13110C>A (p.Gly4370=) c.13095C>A (p.Gly4365=) c.13092C>A (p.Gly4364=) c.13077C>A (p.Gly4359=) c.13107C>A (p.Gly4369=) | gnomAD v4 |
| 19 | g.38565444C>G | CA507355630 | RYR1 | c.46C>G c.1520C>G c.1502C>G c.13110C>G (p.Gly4370=) c.13095C>G (p.Gly4365=) c.13092C>G (p.Gly4364=) c.13077C>G (p.Gly4359=) c.13107C>G (p.Gly4369=) | |
| 19 | g.38565444C>T | CA507355631 | RYR1 | c.46C>T c.1520C>T c.1502C>T c.13110C>T (p.Gly4370=) c.13095C>T (p.Gly4365=) c.13092C>T (p.Gly4364=) c.13077C>T (p.Gly4359=) c.13107C>T (p.Gly4369=) | ClinVar gnomAD v4 |
| 19 | g.38565445G>A | CA405673506 | RYR1 | c.47G>A c.1521G>A c.1503G>A c.13111G>A (p.Ala4371Thr) c.13096G>A (p.Ala4366Thr) c.13093G>A (p.Ala4365Thr) c.13078G>A (p.Ala4360Thr) c.13108G>A (p.Ala4370Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565445G>C | CA405673508 | RYR1 | c.47G>C c.1521G>C c.1503G>C c.13111G>C (p.Ala4371Pro) c.13096G>C (p.Ala4366Pro) c.13093G>C (p.Ala4365Pro) c.13078G>C (p.Ala4360Pro) c.13108G>C (p.Ala4370Pro) | gnomAD v4 |
| 19 | g.38565445G= | CA2335084881 | RYR1 | c.47G= c.1521G= c.1503G= c.13111G= (p.Ala4371=) c.13096G= (p.Ala4366=) c.13093G= (p.Ala4365=) c.13078G= (p.Ala4360=) c.13108G= (p.Ala4370=) | |
| 19 | g.38565445G>T | CA405673510 | RYR1 | c.47G>T c.1521G>T c.1503G>T c.13111G>T (p.Ala4371Ser) c.13096G>T (p.Ala4366Ser) c.13093G>T (p.Ala4365Ser) c.13078G>T (p.Ala4360Ser) c.13108G>T (p.Ala4370Ser) | gnomAD v4 |
| 19 | g.38565446C>A | CA405673512 | RYR1 | c.48C>A c.1522C>A c.1504C>A c.13112C>A (p.Ala4371Asp) c.13097C>A (p.Ala4366Asp) c.13094C>A (p.Ala4365Asp) c.13079C>A (p.Ala4360Asp) c.13109C>A (p.Ala4370Asp) | gnomAD v4 |
| 19 | g.38565446C>G | CA405673514 | RYR1 | c.48C>G c.1522C>G c.1504C>G c.13112C>G (p.Ala4371Gly) c.13097C>G (p.Ala4366Gly) c.13094C>G (p.Ala4365Gly) c.13079C>G (p.Ala4360Gly) c.13109C>G (p.Ala4370Gly) | gnomAD v4 |
| 19 | g.38565446C>T | CA405673516 | RYR1 | c.48C>T c.1522C>T c.1504C>T c.13112C>T (p.Ala4371Val) c.13097C>T (p.Ala4366Val) c.13094C>T (p.Ala4365Val) c.13079C>T (p.Ala4360Val) c.13109C>T (p.Ala4370Val) | gnomAD v4 |
| 19 | g.38565447del | CA2584909149 | RYR1 | c.49del c.1523del c.1505del c.13113del (p.Lys4372ArgfsTer3) c.13098del (p.Lys4367ArgfsTer3) c.13095del (p.Lys4366ArgfsTer3) c.13080del (p.Lys4361ArgfsTer3) c.13110del (p.Lys4371ArgfsTer3) | gnomAD v4 |
| 19 | g.38565447C>A | CA507355638 | RYR1 | c.49C>A c.1523C>A c.1505C>A c.13113C>A (p.Ala4371=) c.13098C>A (p.Ala4366=) c.13095C>A (p.Ala4365=) c.13080C>A (p.Ala4360=) c.13110C>A (p.Ala4370=) | gnomAD v4 |
| 19 | g.38565447C= | CA2335084883 | RYR1 | c.49C= c.1523C= c.1505C= c.13113C= (p.Ala4371=) c.13098C= (p.Ala4366=) c.13095C= (p.Ala4365=) c.13080C= (p.Ala4360=) c.13110C= (p.Ala4370=) | |
| 19 | g.38565447C>G | CA507355639 | RYR1 | c.49C>G c.1523C>G c.1505C>G c.13113C>G (p.Ala4371=) c.13098C>G (p.Ala4366=) c.13095C>G (p.Ala4365=) c.13080C>G (p.Ala4360=) c.13110C>G (p.Ala4370=) | ClinVar dbSNP |
| 19 | g.38565447C>T | CA507355640 | RYR1 | c.49C>T c.1523C>T c.1505C>T c.13113C>T (p.Ala4371=) c.13098C>T (p.Ala4366=) c.13095C>T (p.Ala4365=) c.13080C>T (p.Ala4360=) c.13110C>T (p.Ala4370=) | |
| 19 | g.38565447_38565450delinsCAAG | CA2335084882 | RYR1 | c.49_52delinsCAAG c.1523_1526delinsCAAG c.1505_1508delinsCAAG c.13113_13116delinsCAAG (p.Ala4371=) c.13098_13101delinsCAAG (p.Ala4366=) c.13095_13098delinsCAAG (p.Ala4365=) c.13080_13083delinsCAAG (p.Ala4360=) c.13110_13113delinsCAAG (p.Ala4370=) | |
| 19 | g.38565448A= | CA2335084884 | RYR1 | c.50A= c.1524A= c.1506A= c.13114A= (p.Lys4372=) c.13099A= (p.Lys4367=) c.13096A= (p.Lys4366=) c.13081A= (p.Lys4361=) c.13111A= (p.Lys4371=) | |
| 19 | g.38565448A>C | CA405673517 | RYR1 | c.50A>C c.1524A>C c.1506A>C c.13114A>C (p.Lys4372Gln) c.13099A>C (p.Lys4367Gln) c.13096A>C (p.Lys4366Gln) c.13081A>C (p.Lys4361Gln) c.13111A>C (p.Lys4371Gln) | gnomAD v4 |
| 19 | g.38565448A>G | CA405673519 | RYR1 | c.50A>G c.1524A>G c.1506A>G c.13114A>G (p.Lys4372Glu) c.13099A>G (p.Lys4367Glu) c.13096A>G (p.Lys4366Glu) c.13081A>G (p.Lys4361Glu) c.13111A>G (p.Lys4371Glu) | |
| 19 | g.38565448A>T | CA405673522 | RYR1 | c.50A>T c.1524A>T c.1506A>T c.13114A>T (p.Lys4372Ter) c.13099A>T (p.Lys4367Ter) c.13096A>T (p.Lys4366Ter) c.13081A>T (p.Lys4361Ter) c.13111A>T (p.Lys4371Ter) | dbSNP |
| 19 | g.38565451_38565453del | CA633066819 | RYR1 | c.53_55del c.1527_1529del c.1509_1511del c.13117_13119del (p.Lys4373del) c.13102_13104del (p.Lys4368del) c.13099_13101del (p.Lys4367del) c.13084_13086del (p.Lys4362del) c.13114_13116del (p.Lys4372del) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565449A= | CA2335084885 | RYR1 | c.51A= c.1525A= c.1507A= c.13115A= (p.Lys4372=) c.13100A= (p.Lys4367=) c.13097A= (p.Lys4366=) c.13082A= (p.Lys4361=) c.13112A= (p.Lys4371=) | |
| 19 | g.38565449A>C | CA405673533 | RYR1 | c.51A>C c.1525A>C c.1507A>C c.13115A>C (p.Lys4372Thr) c.13100A>C (p.Lys4367Thr) c.13097A>C (p.Lys4366Thr) c.13082A>C (p.Lys4361Thr) c.13112A>C (p.Lys4371Thr) | |
| 19 | g.38565449A>G | CA405673530 | RYR1 | c.51A>G c.1525A>G c.1507A>G c.13115A>G (p.Lys4372Arg) c.13100A>G (p.Lys4367Arg) c.13097A>G (p.Lys4366Arg) c.13082A>G (p.Lys4361Arg) c.13112A>G (p.Lys4371Arg) | dbSNP gnomAD v4 |
| 19 | g.38565449A>T | CA405673526 | RYR1 | c.51A>T c.1525A>T c.1507A>T c.13115A>T (p.Lys4372Met) c.13100A>T (p.Lys4367Met) c.13097A>T (p.Lys4366Met) c.13082A>T (p.Lys4361Met) c.13112A>T (p.Lys4371Met) | |
| 19 | g.38565450G>A | CA507355644 | RYR1 | c.52G>A c.1526G>A c.1508G>A c.13116G>A (p.Lys4372=) c.13101G>A (p.Lys4367=) c.13098G>A (p.Lys4366=) c.13083G>A (p.Lys4361=) c.13113G>A (p.Lys4371=) | dbSNP gnomAD v4 |
| 19 | g.38565450G>C | CA405673536 | RYR1 | c.52G>C c.1526G>C c.1508G>C c.13116G>C (p.Lys4372Asn) c.13101G>C (p.Lys4367Asn) c.13098G>C (p.Lys4366Asn) c.13083G>C (p.Lys4361Asn) c.13113G>C (p.Lys4371Asn) | |
| 19 | g.38565450G= | CA2335084886 | RYR1 | c.52G= c.1526G= c.1508G= c.13116G= (p.Lys4372=) c.13101G= (p.Lys4367=) c.13098G= (p.Lys4366=) c.13083G= (p.Lys4361=) c.13113G= (p.Lys4371=) | |
| 19 | g.38565450G>T | CA405673538 | RYR1 | c.52G>T c.1526G>T c.1508G>T c.13116G>T (p.Lys4372Asn) c.13101G>T (p.Lys4367Asn) c.13098G>T (p.Lys4366Asn) c.13083G>T (p.Lys4361Asn) c.13113G>T (p.Lys4371Asn) | gnomAD v4 |
| 19 | g.38565451A= | CA2335084887 | RYR1 | c.53A= c.1527A= c.1509A= c.13117A= (p.Lys4373=) c.13102A= (p.Lys4368=) c.13099A= (p.Lys4367=) c.13084A= (p.Lys4362=) c.13114A= (p.Lys4372=) | |
| 19 | g.38565451A>C | CA405673543 | RYR1 | c.53A>C c.1527A>C c.1509A>C c.13117A>C (p.Lys4373Gln) c.13102A>C (p.Lys4368Gln) c.13099A>C (p.Lys4367Gln) c.13084A>C (p.Lys4362Gln) c.13114A>C (p.Lys4372Gln) | dbSNP |
| 19 | g.38565451A>G | CA405673545 | RYR1 | c.53A>G c.1527A>G c.1509A>G c.13117A>G (p.Lys4373Glu) c.13102A>G (p.Lys4368Glu) c.13099A>G (p.Lys4367Glu) c.13084A>G (p.Lys4362Glu) c.13114A>G (p.Lys4372Glu) | gnomAD v4 |
| 19 | g.38565451A>T | CA405673549 | RYR1 | c.53A>T c.1527A>T c.1509A>T c.13117A>T (p.Lys4373Ter) c.13102A>T (p.Lys4368Ter) c.13099A>T (p.Lys4367Ter) c.13084A>T (p.Lys4362Ter) c.13114A>T (p.Lys4372Ter) | |
| 19 | g.38565452A>C | CA405673552 | RYR1 | c.54A>C c.1528A>C c.1510A>C c.13118A>C (p.Lys4373Thr) c.13103A>C (p.Lys4368Thr) c.13100A>C (p.Lys4367Thr) c.13085A>C (p.Lys4362Thr) c.13115A>C (p.Lys4372Thr) | |
| 19 | g.38565452A>G | CA405673554 | RYR1 | c.54A>G c.1528A>G c.1510A>G c.13118A>G (p.Lys4373Arg) c.13103A>G (p.Lys4368Arg) c.13100A>G (p.Lys4367Arg) c.13085A>G (p.Lys4362Arg) c.13115A>G (p.Lys4372Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565452A>T | CA405673555 | RYR1 | c.54A>T c.1528A>T c.1510A>T c.13118A>T (p.Lys4373Met) c.13103A>T (p.Lys4368Met) c.13100A>T (p.Lys4367Met) c.13085A>T (p.Lys4362Met) c.13115A>T (p.Lys4372Met) | gnomAD v4 |
| 19 | g.38565453G>A | CA507355651 | RYR1 | c.55G>A c.1529G>A c.1511G>A c.13119G>A (p.Lys4373=) c.13104G>A (p.Lys4368=) c.13101G>A (p.Lys4367=) c.13086G>A (p.Lys4362=) c.13116G>A (p.Lys4372=) | gnomAD v4 |
| 19 | g.38565453G>C | CA405673556 | RYR1 | c.55G>C c.1529G>C c.1511G>C c.13119G>C (p.Lys4373Asn) c.13104G>C (p.Lys4368Asn) c.13101G>C (p.Lys4367Asn) c.13086G>C (p.Lys4362Asn) c.13116G>C (p.Lys4372Asn) | |
| 19 | g.38565453G>T | CA405673557 | RYR1 | c.55G>T c.1529G>T c.1511G>T c.13119G>T (p.Lys4373Asn) c.13104G>T (p.Lys4368Asn) c.13101G>T (p.Lys4367Asn) c.13086G>T (p.Lys4362Asn) c.13116G>T (p.Lys4372Asn) | |
| 19 | g.38565454G>A | CA405673558 | RYR1 | c.56G>A c.1530G>A c.1512G>A c.13120G>A (p.Val4374Met) c.13105G>A (p.Val4369Met) c.13102G>A (p.Val4368Met) c.13087G>A (p.Val4363Met) c.13117G>A (p.Val4373Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565454G>C | CA405673559 | RYR1 | c.56G>C c.1530G>C c.1512G>C c.13120G>C (p.Val4374Leu) c.13105G>C (p.Val4369Leu) c.13102G>C (p.Val4368Leu) c.13087G>C (p.Val4363Leu) c.13117G>C (p.Val4373Leu) | |
| 19 | g.38565454G= | CA2335084888 | RYR1 | c.56G= c.1530G= c.1512G= c.13120G= (p.Val4374=) c.13105G= (p.Val4369=) c.13102G= (p.Val4368=) c.13087G= (p.Val4363=) c.13117G= (p.Val4373=) | |
| 19 | g.38565454G>T | CA405673561 | RYR1 | c.56G>T c.1530G>T c.1512G>T c.13120G>T (p.Val4374Leu) c.13105G>T (p.Val4369Leu) c.13102G>T (p.Val4368Leu) c.13087G>T (p.Val4363Leu) c.13117G>T (p.Val4373Leu) | gnomAD v4 |
| 19 | g.38565454_38565455insCA | CA2335084889 | RYR1 | c.56_57insCA c.1530_1531insCA c.1512_1513insCA c.13120_13121insCA (p.Val4374AlafsTer2) c.13105_13106insCA (p.Val4369AlafsTer2) c.13102_13103insCA (p.Val4368AlafsTer2) c.13087_13088insCA (p.Val4363AlafsTer2) c.13117_13118insCA (p.Val4373AlafsTer2) | dbSNP |
| 19 | g.38565455T>A | CA405673569 | RYR1 | c.57T>A c.1531T>A c.1513T>A c.13121T>A (p.Val4374Glu) c.13106T>A (p.Val4369Glu) c.13103T>A (p.Val4368Glu) c.13088T>A (p.Val4363Glu) c.13118T>A (p.Val4373Glu) | |
| 19 | g.38565455T>C | CA405673566 | RYR1 | c.57T>C c.1531T>C c.1513T>C c.13121T>C (p.Val4374Ala) c.13106T>C (p.Val4369Ala) c.13103T>C (p.Val4368Ala) c.13088T>C (p.Val4363Ala) c.13118T>C (p.Val4373Ala) | gnomAD v4 |
| 19 | g.38565455T>G | CA405673563 | RYR1 | c.57T>G c.1531T>G c.1513T>G c.13121T>G (p.Val4374Gly) c.13106T>G (p.Val4369Gly) c.13103T>G (p.Val4368Gly) c.13088T>G (p.Val4363Gly) c.13118T>G (p.Val4373Gly) | |
| 19 | g.38565456G>A | CA205628 | RYR1 | c.58G>A c.1532G>A c.1514G>A c.13122G>A (p.Val4374=) c.13107G>A (p.Val4369=) c.13104G>A (p.Val4368=) c.13089G>A (p.Val4363=) c.13119G>A (p.Val4373=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565456G>C | CA507355665 | RYR1 | c.58G>C c.1532G>C c.1514G>C c.13122G>C (p.Val4374=) c.13107G>C (p.Val4369=) c.13104G>C (p.Val4368=) c.13089G>C (p.Val4363=) c.13119G>C (p.Val4373=) | |
| 19 | g.38565456G= | CA2335084890 | RYR1 | c.58G= c.1532G= c.1514G= c.13122G= (p.Val4374=) c.13107G= (p.Val4369=) c.13104G= (p.Val4368=) c.13089G= (p.Val4363=) c.13119G= (p.Val4373=) | |
| 19 | g.38565456G>T | CA507355664 | RYR1 | c.58G>T c.1532G>T c.1514G>T c.13122G>T (p.Val4374=) c.13107G>T (p.Val4369=) c.13104G>T (p.Val4368=) c.13089G>T (p.Val4363=) c.13119G>T (p.Val4373=) | gnomAD v4 |
| 19 | g.38565456_38565463delinsGACGGTGA | CA2335084891 | RYR1 | c.58_65delinsGACGGTGA c.1532_1539delinsGACGGTGA c.1514_1521delinsGACGGTGA c.13122_13129delinsGACGGTGA (p.Val4374=) c.13107_13114delinsGACGGTGA (p.Val4369=) c.13104_13111delinsGACGGTGA (p.Val4368=) c.13089_13096delinsGACGGTGA (p.Val4363=) c.13119_13126delinsGACGGTGA (p.Val4373=) | |
| 19 | g.38565457A>C | CA405673573 | RYR1 | c.59A>C c.1533A>C c.1515A>C c.13123A>C (p.Thr4375Pro) c.13108A>C (p.Thr4370Pro) c.13105A>C (p.Thr4369Pro) c.13090A>C (p.Thr4364Pro) c.13120A>C (p.Thr4374Pro) | |
| 19 | g.38565457A>G | CA405673571 | RYR1 | c.59A>G c.1533A>G c.1515A>G c.13123A>G (p.Thr4375Ala) c.13108A>G (p.Thr4370Ala) c.13105A>G (p.Thr4369Ala) c.13090A>G (p.Thr4364Ala) c.13120A>G (p.Thr4374Ala) | gnomAD v4 |
| 19 | g.38565457A>T | CA405673572 | RYR1 | c.59A>T c.1533A>T c.1515A>T c.13123A>T (p.Thr4375Ser) c.13108A>T (p.Thr4370Ser) c.13105A>T (p.Thr4369Ser) c.13090A>T (p.Thr4364Ser) c.13120A>T (p.Thr4374Ser) | |
| 19 | g.38565457_38565463del | CA2335084892 | RYR1 | c.59_65del c.1533_1539del c.1515_1521del c.13123_13129del (p.Thr4375ProfsTer?) c.13108_13114del (p.Thr4370ProfsTer?) c.13105_13111del (p.Thr4369ProfsTer?) c.13090_13096del (p.Thr4364ProfsTer?) c.13120_13126del (p.Thr4374ProfsTer?) | dbSNP |
| 19 | g.38565458C>A | CA405673575 | RYR1 | c.60C>A c.1534C>A c.1516C>A c.13124C>A (p.Thr4375Lys) c.13109C>A (p.Thr4370Lys) c.13106C>A (p.Thr4369Lys) c.13091C>A (p.Thr4364Lys) c.13121C>A (p.Thr4374Lys) | gnomAD v4 |
| 19 | g.38565458C= | CA2335084893 | RYR1 | c.60C= c.1534C= c.1516C= c.13124C= (p.Thr4375=) c.13109C= (p.Thr4370=) c.13106C= (p.Thr4369=) c.13091C= (p.Thr4364=) c.13121C= (p.Thr4374=) | |
| 19 | g.38565458C>G | CA405673576 | RYR1 | c.60C>G c.1534C>G c.1516C>G c.13124C>G (p.Thr4375Arg) c.13109C>G (p.Thr4370Arg) c.13106C>G (p.Thr4369Arg) c.13091C>G (p.Thr4364Arg) c.13121C>G (p.Thr4374Arg) | gnomAD v4 |
| 19 | g.38565458C>T | CA405673577 | RYR1 | c.60C>T c.1534C>T c.1516C>T c.13124C>T (p.Thr4375Met) c.13109C>T (p.Thr4370Met) c.13106C>T (p.Thr4369Met) c.13091C>T (p.Thr4364Met) c.13121C>T (p.Thr4374Met) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565459G>A | CA507355673 | RYR1 | c.61G>A c.1535G>A c.1517G>A c.13125G>A (p.Thr4375=) c.13110G>A (p.Thr4370=) c.13107G>A (p.Thr4369=) c.13092G>A (p.Thr4364=) c.13122G>A (p.Thr4374=) | gnomAD v4 |
| 19 | g.38565459G>C | CA059582 | RYR1 | c.61G>C c.1535G>C c.1517G>C c.13125G>C (p.Thr4375=) c.13110G>C (p.Thr4370=) c.13107G>C (p.Thr4369=) c.13092G>C (p.Thr4364=) c.13122G>C (p.Thr4374=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38565459G= | CA2335084894 | RYR1 | c.61G= c.1535G= c.1517G= c.13125G= (p.Thr4375=) c.13110G= (p.Thr4370=) c.13107G= (p.Thr4369=) c.13092G= (p.Thr4364=) c.13122G= (p.Thr4374=) | |
| 19 | g.38565459G>T | CA507355674 | RYR1 | c.61G>T c.1535G>T c.1517G>T c.13125G>T (p.Thr4375=) c.13110G>T (p.Thr4370=) c.13107G>T (p.Thr4369=) c.13092G>T (p.Thr4364=) c.13122G>T (p.Thr4374=) | gnomAD v4 |
| 19 | g.38565460G>A | CA405673579 | RYR1 | c.62G>A c.1536G>A c.1518G>A c.13126G>A (p.Val4376Met) c.13111G>A (p.Val4371Met) c.13108G>A (p.Val4370Met) c.13093G>A (p.Val4365Met) c.13123G>A (p.Val4375Met) | gnomAD v4 |
| 19 | g.38565460G>C | CA405673582 | RYR1 | c.62G>C c.1536G>C c.1518G>C c.13126G>C (p.Val4376Leu) c.13111G>C (p.Val4371Leu) c.13108G>C (p.Val4370Leu) c.13093G>C (p.Val4365Leu) c.13123G>C (p.Val4375Leu) | |
| 19 | g.38565460G= | CA2335084895 | RYR1 | c.62G= c.1536G= c.1518G= c.13126G= (p.Val4376=) c.13111G= (p.Val4371=) c.13108G= (p.Val4370=) c.13093G= (p.Val4365=) c.13123G= (p.Val4375=) | |
| 19 | g.38565460G>T | CA405673585 | RYR1 | c.62G>T c.1536G>T c.1518G>T c.13126G>T (p.Val4376Leu) c.13111G>T (p.Val4371Leu) c.13108G>T (p.Val4370Leu) c.13093G>T (p.Val4365Leu) c.13123G>T (p.Val4375Leu) | dbSNP gnomAD v2 |
| 19 | g.38565460_38565480dup | CA2584909150 | RYR1 | c.62_82dup c.1536_1556dup c.1518_1538dup c.13126_13146dup (p.Gly4382_Met4383insValThrGluLeuLeuAlaGly) c.13111_13131dup (p.Gly4377_Met4378insValThrGluLeuLeuAlaGly) c.13108_13128dup (p.Gly4376_Met4377insValThrGluLeuLeuAlaGly) c.13093_13113dup (p.Gly4371_Met4372insValThrGluLeuLeuAlaGly) c.13123_13143dup (p.Gly4381_Met4382insValThrGluLeuLeuAlaGly) | gnomAD v4 |
| 19 | g.38565461T>A | CA405673587 | RYR1 | c.63T>A c.1537T>A c.1519T>A c.13127T>A (p.Val4376Glu) c.13112T>A (p.Val4371Glu) c.13109T>A (p.Val4370Glu) c.13094T>A (p.Val4365Glu) c.13124T>A (p.Val4375Glu) | |
| 19 | g.38565461T>C | CA405673590 | RYR1 | c.63T>C c.1537T>C c.1519T>C c.13127T>C (p.Val4376Ala) c.13112T>C (p.Val4371Ala) c.13109T>C (p.Val4370Ala) c.13094T>C (p.Val4365Ala) c.13124T>C (p.Val4375Ala) | gnomAD v4 |
| 19 | g.38565461T>G | CA405673592 | RYR1 | c.63T>G c.1537T>G c.1519T>G c.13127T>G (p.Val4376Gly) c.13112T>G (p.Val4371Gly) c.13109T>G (p.Val4370Gly) c.13094T>G (p.Val4365Gly) c.13124T>G (p.Val4375Gly) | |
| 19 | g.38565462G>A | CA10648661 | RYR1 | c.64G>A c.1538G>A c.1520G>A c.13128G>A (p.Val4376=) c.13113G>A (p.Val4371=) c.13110G>A (p.Val4370=) c.13095G>A (p.Val4365=) c.13125G>A (p.Val4375=) | ClinVar dbSNP |
| 19 | g.38565462G>C | CA080786 | RYR1 | c.64G>C c.1538G>C c.1520G>C c.13128G>C (p.Val4376=) c.13113G>C (p.Val4371=) c.13110G>C (p.Val4370=) c.13095G>C (p.Val4365=) c.13125G>C (p.Val4375=) | |
| 19 | g.38565462G= | CA2335084896 | RYR1 | c.64G= c.1538G= c.1520G= c.13128G= (p.Val4376=) c.13113G= (p.Val4371=) c.13110G= (p.Val4370=) c.13095G= (p.Val4365=) c.13125G= (p.Val4375=) | |
| 19 | g.38565462G>T | CA507355682 | RYR1 | c.64G>T c.1538G>T c.1520G>T c.13128G>T (p.Val4376=) c.13113G>T (p.Val4371=) c.13110G>T (p.Val4370=) c.13095G>T (p.Val4365=) c.13125G>T (p.Val4375=) | gnomAD v4 |
| 19 | g.38565463A>C | CA405673597 | RYR1 | c.65A>C c.1539A>C c.1521A>C c.13129A>C (p.Thr4377Pro) c.13114A>C (p.Thr4372Pro) c.13111A>C (p.Thr4371Pro) c.13096A>C (p.Thr4366Pro) c.13126A>C (p.Thr4376Pro) | |
| 19 | g.38565463A>G | CA405673603 | RYR1 | c.65A>G c.1539A>G c.1521A>G c.13129A>G (p.Thr4377Ala) c.13114A>G (p.Thr4372Ala) c.13111A>G (p.Thr4371Ala) c.13096A>G (p.Thr4366Ala) c.13126A>G (p.Thr4376Ala) | gnomAD v4 |
| 19 | g.38565463A>T | CA405673602 | RYR1 | c.65A>T c.1539A>T c.1521A>T c.13129A>T (p.Thr4377Ser) c.13114A>T (p.Thr4372Ser) c.13111A>T (p.Thr4371Ser) c.13096A>T (p.Thr4366Ser) c.13126A>T (p.Thr4376Ser) | |
| 19 | g.38565464C>A | CA405673606 | RYR1 | c.66C>A c.1540C>A c.1522C>A c.13130C>A (p.Thr4377Asn) c.13115C>A (p.Thr4372Asn) c.13112C>A (p.Thr4371Asn) c.13097C>A (p.Thr4366Asn) c.13127C>A (p.Thr4376Asn) | gnomAD v4 |
| 19 | g.38565464C>G | CA405673612 | RYR1 | c.66C>G c.1540C>G c.1522C>G c.13130C>G (p.Thr4377Ser) c.13115C>G (p.Thr4372Ser) c.13112C>G (p.Thr4371Ser) c.13097C>G (p.Thr4366Ser) c.13127C>G (p.Thr4376Ser) | gnomAD v4 |
| 19 | g.38565464C>T | CA405673615 | RYR1 | c.66C>T c.1540C>T c.1522C>T c.13130C>T (p.Thr4377Ile) c.13115C>T (p.Thr4372Ile) c.13112C>T (p.Thr4371Ile) c.13097C>T (p.Thr4366Ile) c.13127C>T (p.Thr4376Ile) | gnomAD v4 |
| 19 | g.38565465C>A | CA507355687 | RYR1 | c.67C>A c.1541C>A c.1523C>A c.13131C>A (p.Thr4377=) c.13116C>A (p.Thr4372=) c.13113C>A (p.Thr4371=) c.13098C>A (p.Thr4366=) c.13128C>A (p.Thr4376=) | gnomAD v4 |
| 19 | g.38565465C= | CA2335084897 | RYR1 | c.67C= c.1541C= c.1523C= c.13131C= (p.Thr4377=) c.13116C= (p.Thr4372=) c.13113C= (p.Thr4371=) c.13098C= (p.Thr4366=) c.13128C= (p.Thr4376=) | |
| 19 | g.38565465C>G | CA507355690 | RYR1 | c.67C>G c.1541C>G c.1523C>G c.13131C>G (p.Thr4377=) c.13116C>G (p.Thr4372=) c.13113C>G (p.Thr4371=) c.13098C>G (p.Thr4366=) c.13128C>G (p.Thr4376=) | dbSNP |
| 19 | g.38565465C>T | CA507355694 | RYR1 | c.67C>T c.1541C>T c.1523C>T c.13131C>T (p.Thr4377=) c.13116C>T (p.Thr4372=) c.13113C>T (p.Thr4371=) c.13098C>T (p.Thr4366=) c.13128C>T (p.Thr4376=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565466G>A | CA405673617 | RYR1 | c.68G>A c.1542G>A c.1524G>A c.13132G>A (p.Glu4378Lys) c.13117G>A (p.Glu4373Lys) c.13114G>A (p.Glu4372Lys) c.13099G>A (p.Glu4367Lys) c.13129G>A (p.Glu4377Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565466G>C | CA405673620 | RYR1 | c.68G>C c.1542G>C c.1524G>C c.13132G>C (p.Glu4378Gln) c.13117G>C (p.Glu4373Gln) c.13114G>C (p.Glu4372Gln) c.13099G>C (p.Glu4367Gln) c.13129G>C (p.Glu4377Gln) | ClinVar |
| 19 | g.38565466G= | CA2335084898 | RYR1 | c.68G= c.1542G= c.1524G= c.13132G= (p.Glu4378=) c.13117G= (p.Glu4373=) c.13114G= (p.Glu4372=) c.13099G= (p.Glu4367=) c.13129G= (p.Glu4377=) | |
| 19 | g.38565466G>T | CA405673627 | RYR1 | c.68G>T c.1542G>T c.1524G>T c.13132G>T (p.Glu4378Ter) c.13117G>T (p.Glu4373Ter) c.13114G>T (p.Glu4372Ter) c.13099G>T (p.Glu4367Ter) c.13129G>T (p.Glu4377Ter) | gnomAD v4 |
| 19 | g.38565467A= | CA2335084899 | RYR1 | c.69A= c.1543A= c.1525A= c.13133A= (p.Glu4378=) c.13118A= (p.Glu4373=) c.13115A= (p.Glu4372=) c.13100A= (p.Glu4367=) c.13130A= (p.Glu4377=) | |
| 19 | g.38565467A>C | CA405673631 | RYR1 | c.69A>C c.1543A>C c.1525A>C c.13133A>C (p.Glu4378Ala) c.13118A>C (p.Glu4373Ala) c.13115A>C (p.Glu4372Ala) c.13100A>C (p.Glu4367Ala) c.13130A>C (p.Glu4377Ala) | |
| 19 | g.38565467A>G | CA405673642 | RYR1 | c.69A>G c.1543A>G c.1525A>G c.13133A>G (p.Glu4378Gly) c.13118A>G (p.Glu4373Gly) c.13115A>G (p.Glu4372Gly) c.13100A>G (p.Glu4367Gly) c.13130A>G (p.Glu4377Gly) | dbSNP gnomAD v4 |
| 19 | g.38565467A>T | CA405673643 | RYR1 | c.69A>T c.1543A>T c.1525A>T c.13133A>T (p.Glu4378Val) c.13118A>T (p.Glu4373Val) c.13115A>T (p.Glu4372Val) c.13100A>T (p.Glu4367Val) c.13130A>T (p.Glu4377Val) | |
| 19 | g.38565468G>A | CA507355700 | RYR1 | c.70G>A c.1544G>A c.1526G>A c.13134G>A (p.Glu4378=) c.13119G>A (p.Glu4373=) c.13116G>A (p.Glu4372=) c.13101G>A (p.Glu4367=) c.13131G>A (p.Glu4377=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565468G>C | CA405673647 | RYR1 | c.70G>C c.1544G>C c.1526G>C c.13134G>C (p.Glu4378Asp) c.13119G>C (p.Glu4373Asp) c.13116G>C (p.Glu4372Asp) c.13101G>C (p.Glu4367Asp) c.13131G>C (p.Glu4377Asp) | |
| 19 | g.38565468G= | CA2335084900 | RYR1 | c.70G= c.1544G= c.1526G= c.13134G= (p.Glu4378=) c.13119G= (p.Glu4373=) c.13116G= (p.Glu4372=) c.13101G= (p.Glu4367=) c.13131G= (p.Glu4377=) | |
| 19 | g.38565468G>T | CA405673649 | RYR1 | c.70G>T c.1544G>T c.1526G>T c.13134G>T (p.Glu4378Asp) c.13119G>T (p.Glu4373Asp) c.13116G>T (p.Glu4372Asp) c.13101G>T (p.Glu4367Asp) c.13131G>T (p.Glu4377Asp) | gnomAD v4 |
| 19 | g.38565469C>A | CA405673655 | RYR1 | c.71C>A c.1545C>A c.1527C>A c.13135C>A (p.Leu4379Ile) c.13120C>A (p.Leu4374Ile) c.13117C>A (p.Leu4373Ile) c.13102C>A (p.Leu4368Ile) c.13132C>A (p.Leu4378Ile) | gnomAD v4 |
| 19 | g.38565469C= | CA2335084901 | RYR1 | c.71C= c.1545C= c.1527C= c.13135C= (p.Leu4379=) c.13120C= (p.Leu4374=) c.13117C= (p.Leu4373=) c.13102C= (p.Leu4368=) c.13132C= (p.Leu4378=) | |
| 19 | g.38565469C>G | CA405673654 | RYR1 | c.71C>G c.1545C>G c.1527C>G c.13135C>G (p.Leu4379Val) c.13120C>G (p.Leu4374Val) c.13117C>G (p.Leu4373Val) c.13102C>G (p.Leu4368Val) c.13132C>G (p.Leu4378Val) | |
| 19 | g.38565469C>T | CA405673652 | RYR1 | c.71C>T c.1545C>T c.1527C>T c.13135C>T (p.Leu4379Phe) c.13120C>T (p.Leu4374Phe) c.13117C>T (p.Leu4373Phe) c.13102C>T (p.Leu4368Phe) c.13132C>T (p.Leu4378Phe) | dbSNP gnomAD v4 |
| 19 | g.38565470T>A | CA405673662 | RYR1 | c.72T>A c.1546T>A c.1528T>A c.13136T>A (p.Leu4379His) c.13121T>A (p.Leu4374His) c.13118T>A (p.Leu4373His) c.13103T>A (p.Leu4368His) c.13133T>A (p.Leu4378His) | |
| 19 | g.38565470T>C | CA405673658 | RYR1 | c.72T>C c.1546T>C c.1528T>C c.13136T>C (p.Leu4379Pro) c.13121T>C (p.Leu4374Pro) c.13118T>C (p.Leu4373Pro) c.13103T>C (p.Leu4368Pro) c.13133T>C (p.Leu4378Pro) | |
| 19 | g.38565470T>G | CA405673660 | RYR1 | c.72T>G c.1546T>G c.1528T>G c.13136T>G (p.Leu4379Arg) c.13121T>G (p.Leu4374Arg) c.13118T>G (p.Leu4373Arg) c.13103T>G (p.Leu4368Arg) c.13133T>G (p.Leu4378Arg) | |
| 19 | g.38565471C>A | CA507355705 | RYR1 | c.73C>A c.1547C>A c.1529C>A c.13137C>A (p.Leu4379=) c.13122C>A (p.Leu4374=) c.13119C>A (p.Leu4373=) c.13104C>A (p.Leu4368=) c.13134C>A (p.Leu4378=) | gnomAD v4 |
| 19 | g.38565471C= | CA2335084902 | RYR1 | c.73C= c.1547C= c.1529C= c.13137C= (p.Leu4379=) c.13122C= (p.Leu4374=) c.13119C= (p.Leu4373=) c.13104C= (p.Leu4368=) c.13134C= (p.Leu4378=) | |
| 19 | g.38565471C>G | CA507355706 | RYR1 | c.73C>G c.1547C>G c.1529C>G c.13137C>G (p.Leu4379=) c.13122C>G (p.Leu4374=) c.13119C>G (p.Leu4373=) c.13104C>G (p.Leu4368=) c.13134C>G (p.Leu4378=) | |
| 19 | g.38565471C>T | CA059594 | RYR1 | c.73C>T c.1547C>T c.1529C>T c.13137C>T (p.Leu4379=) c.13122C>T (p.Leu4374=) c.13119C>T (p.Leu4373=) c.13104C>T (p.Leu4368=) c.13134C>T (p.Leu4378=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565472C>A | CA405673669 | RYR1 | c.74C>A c.1548C>A c.1530C>A c.13138C>A (p.Leu4380Met) c.13123C>A (p.Leu4375Met) c.13120C>A (p.Leu4374Met) c.13105C>A (p.Leu4369Met) c.13135C>A (p.Leu4379Met) | gnomAD v4 |
| 19 | g.38565472C= | CA2335084903 | RYR1 | c.74C= c.1548C= c.1530C= c.13138C= (p.Leu4380=) c.13123C= (p.Leu4375=) c.13120C= (p.Leu4374=) c.13105C= (p.Leu4369=) c.13135C= (p.Leu4379=) | |
| 19 | g.38565472C>G | CA405673673 | RYR1 | c.74C>G c.1548C>G c.1530C>G c.13138C>G (p.Leu4380Val) c.13123C>G (p.Leu4375Val) c.13120C>G (p.Leu4374Val) c.13105C>G (p.Leu4369Val) c.13135C>G (p.Leu4379Val) | |
| 19 | g.38565472C>T | CA507355709 | RYR1 | c.74C>T c.1548C>T c.1530C>T c.13138C>T (p.Leu4380=) c.13123C>T (p.Leu4375=) c.13120C>T (p.Leu4374=) c.13105C>T (p.Leu4369=) c.13135C>T (p.Leu4379=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565473del | CA2584909151 | RYR1 | c.75del c.1549del c.1531del c.13139del (p.Leu4380ArgfsTer?) c.13124del (p.Leu4375ArgfsTer?) c.13121del (p.Leu4374ArgfsTer?) c.13106del (p.Leu4369ArgfsTer?) c.13136del (p.Leu4379ArgfsTer?) | gnomAD v4 |
| 19 | g.38565473T>A | CA405673687 | RYR1 | c.75T>A c.1549T>A c.1531T>A c.13139T>A (p.Leu4380Gln) c.13124T>A (p.Leu4375Gln) c.13121T>A (p.Leu4374Gln) c.13106T>A (p.Leu4369Gln) c.13136T>A (p.Leu4379Gln) | gnomAD v4 |
| 19 | g.38565473T>C | CA405673685 | RYR1 | c.75T>C c.1549T>C c.1531T>C c.13139T>C (p.Leu4380Pro) c.13124T>C (p.Leu4375Pro) c.13121T>C (p.Leu4374Pro) c.13106T>C (p.Leu4369Pro) c.13136T>C (p.Leu4379Pro) | gnomAD v4 |
| 19 | g.38565473T>G | CA405673677 | RYR1 | c.75T>G c.1549T>G c.1531T>G c.13139T>G (p.Leu4380Arg) c.13124T>G (p.Leu4375Arg) c.13121T>G (p.Leu4374Arg) c.13106T>G (p.Leu4369Arg) c.13136T>G (p.Leu4379Arg) | |
| 19 | g.38565474G>A | CA507355712 | RYR1 | c.76G>A c.1550G>A c.1532G>A c.13140G>A (p.Leu4380=) c.13125G>A (p.Leu4375=) c.13122G>A (p.Leu4374=) c.13107G>A (p.Leu4369=) c.13137G>A (p.Leu4379=) | gnomAD v4 |
| 19 | g.38565474G>C | CA507355713 | RYR1 | c.76G>C c.1550G>C c.1532G>C c.13140G>C (p.Leu4380=) c.13125G>C (p.Leu4375=) c.13122G>C (p.Leu4374=) c.13107G>C (p.Leu4369=) c.13137G>C (p.Leu4379=) | |
| 19 | g.38565474G>T | CA507355714 | RYR1 | c.76G>T c.1550G>T c.1532G>T c.13140G>T (p.Leu4380=) c.13125G>T (p.Leu4375=) c.13122G>T (p.Leu4374=) c.13107G>T (p.Leu4369=) c.13137G>T (p.Leu4379=) | gnomAD v4 |
| 19 | g.38565475G>A | CA405673690 | RYR1 | c.77G>A c.1551G>A c.1533G>A c.13141G>A (p.Ala4381Thr) c.13126G>A (p.Ala4376Thr) c.13123G>A (p.Ala4375Thr) c.13108G>A (p.Ala4370Thr) c.13138G>A (p.Ala4380Thr) | gnomAD v4 |
| 19 | g.38565475G>C | CA405673694 | RYR1 | c.77G>C c.1551G>C c.1533G>C c.13141G>C (p.Ala4381Pro) c.13126G>C (p.Ala4376Pro) c.13123G>C (p.Ala4375Pro) c.13108G>C (p.Ala4370Pro) c.13138G>C (p.Ala4380Pro) | |
| 19 | g.38565475G>T | CA405673695 | RYR1 | c.77G>T c.1551G>T c.1533G>T c.13141G>T (p.Ala4381Ser) c.13126G>T (p.Ala4376Ser) c.13123G>T (p.Ala4375Ser) c.13108G>T (p.Ala4370Ser) c.13138G>T (p.Ala4380Ser) | gnomAD v4 |
| 19 | g.38565476C>A | CA405673696 | RYR1 | c.78C>A c.1552C>A c.1534C>A c.13142C>A (p.Ala4381Glu) c.13127C>A (p.Ala4376Glu) c.13124C>A (p.Ala4375Glu) c.13109C>A (p.Ala4370Glu) c.13139C>A (p.Ala4380Glu) | dbSNP gnomAD v4 |
| 19 | g.38565476C= | CA2335084904 | RYR1 | c.78C= c.1552C= c.1534C= c.13142C= (p.Ala4381=) c.13127C= (p.Ala4376=) c.13124C= (p.Ala4375=) c.13109C= (p.Ala4370=) c.13139C= (p.Ala4380=) | |
| 19 | g.38565476C>G | CA024035 | RYR1 | c.78C>G c.1552C>G c.1534C>G c.13142C>G (p.Ala4381Gly) c.13127C>G (p.Ala4376Gly) c.13124C>G (p.Ala4375Gly) c.13109C>G (p.Ala4370Gly) c.13139C>G (p.Ala4380Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565476C>T | CA405673697 | RYR1 | c.78C>T c.1552C>T c.1534C>T c.13142C>T (p.Ala4381Val) c.13127C>T (p.Ala4376Val) c.13124C>T (p.Ala4375Val) c.13109C>T (p.Ala4370Val) c.13139C>T (p.Ala4380Val) | gnomAD v4 |
| 19 | g.38565477A>C | CA507355717 | RYR1 | c.79A>C c.1553A>C c.1535A>C c.13143A>C (p.Ala4381=) c.13128A>C (p.Ala4376=) c.13125A>C (p.Ala4375=) c.13110A>C (p.Ala4370=) c.13140A>C (p.Ala4380=) | |
| 19 | g.38565477A>G | CA507355718 | RYR1 | c.79A>G c.1553A>G c.1535A>G c.13143A>G (p.Ala4381=) c.13128A>G (p.Ala4376=) c.13125A>G (p.Ala4375=) c.13110A>G (p.Ala4370=) c.13140A>G (p.Ala4380=) | gnomAD v4 |
| 19 | g.38565477A>T | CA507355719 | RYR1 | c.79A>T c.1553A>T c.1535A>T c.13143A>T (p.Ala4381=) c.13128A>T (p.Ala4376=) c.13125A>T (p.Ala4375=) c.13110A>T (p.Ala4370=) c.13140A>T (p.Ala4380=) | |
| 19 | g.38565478G>A | CA405673699 | RYR1 | c.80G>A c.1554G>A c.1536G>A c.13144G>A (p.Gly4382Ser) c.13129G>A (p.Gly4377Ser) c.13126G>A (p.Gly4376Ser) c.13111G>A (p.Gly4371Ser) c.13141G>A (p.Gly4381Ser) | dbSNP gnomAD v4 |
| 19 | g.38565478G>C | CA405673704 | RYR1 | c.80G>C c.1554G>C c.1536G>C c.13144G>C (p.Gly4382Arg) c.13129G>C (p.Gly4377Arg) c.13126G>C (p.Gly4376Arg) c.13111G>C (p.Gly4371Arg) c.13141G>C (p.Gly4381Arg) | |
| 19 | g.38565478G= | CA2335084905 | RYR1 | c.80G= c.1554G= c.1536G= c.13144G= (p.Gly4382=) c.13129G= (p.Gly4377=) c.13126G= (p.Gly4376=) c.13111G= (p.Gly4371=) c.13141G= (p.Gly4381=) | |
| 19 | g.38565478G>T | CA405673702 | RYR1 | c.80G>T c.1554G>T c.1536G>T c.13144G>T (p.Gly4382Cys) c.13129G>T (p.Gly4377Cys) c.13126G>T (p.Gly4376Cys) c.13111G>T (p.Gly4371Cys) c.13141G>T (p.Gly4381Cys) | gnomAD v4 |
| 19 | g.38565479G>A | CA405673710 | RYR1 | c.81G>A c.1555G>A c.1537G>A c.13145G>A (p.Gly4382Asp) c.13130G>A (p.Gly4377Asp) c.13127G>A (p.Gly4376Asp) c.13112G>A (p.Gly4371Asp) c.13142G>A (p.Gly4381Asp) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38565479G>C | CA405673714 | RYR1 | c.81G>C c.1555G>C c.1537G>C c.13145G>C (p.Gly4382Ala) c.13130G>C (p.Gly4377Ala) c.13127G>C (p.Gly4376Ala) c.13112G>C (p.Gly4371Ala) c.13142G>C (p.Gly4381Ala) | |
| 19 | g.38565479G= | CA2335084906 | RYR1 | c.81G= c.1555G= c.1537G= c.13145G= (p.Gly4382=) c.13130G= (p.Gly4377=) c.13127G= (p.Gly4376=) c.13112G= (p.Gly4371=) c.13142G= (p.Gly4381=) | |
| 19 | g.38565479G>T | CA405673716 | RYR1 | c.81G>T c.1555G>T c.1537G>T c.13145G>T (p.Gly4382Val) c.13130G>T (p.Gly4377Val) c.13127G>T (p.Gly4376Val) c.13112G>T (p.Gly4371Val) c.13142G>T (p.Gly4381Val) | gnomAD v4 |