| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38512253T>A | CA405686060 | RYR1 | c.9181T>A (n.9181T>A) c.9242T>A (p.Met3081Lys) c.9239T>A (p.Met3080Lys) c.2644T>A c.49T>A n.9275T>A | |
| 19 | g.38512253T>C | CA024970 | RYR1 | c.9181T>C (n.9181T>C) c.9242T>C (p.Met3081Thr) c.9239T>C (p.Met3080Thr) c.2644T>C c.49T>C n.9275T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38512253T>G | CA405686064 | RYR1 | c.9181T>G (n.9181T>G) c.9242T>G (p.Met3081Arg) c.9239T>G (p.Met3080Arg) c.2644T>G c.49T>G n.9275T>G | |
| 19 | g.38512253T= | CA2335059602 | RYR1 | c.9181T= (n.9181T=) c.9242T= (p.Met3081=) c.9239T= (p.Met3080=) c.2644T= c.49T= n.9275T= | |
| 19 | g.38512258_38512278dup | CA2584903392 | RYR1 | c.9186_9206dup (n.9186_9206dup) c.9247_9267dup (p.Lys3089_Ala3090insSerGlyProGluIleValLys) c.9244_9264dup (p.Lys3088_Ala3089insSerGlyProGluIleValLys) c.2649_2669dup c.54_74dup n.9280_9300dup | gnomAD v4 |
| 19 | g.38512254G>A | CA073437 | RYR1 | c.9182G>A (n.9182G>A) c.9243G>A (p.Met3081Ile) c.9240G>A (p.Met3080Ile) c.2645G>A c.50G>A n.9276G>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.38512254G>C | CA405686070 | RYR1 | c.9182G>C (n.9182G>C) c.9243G>C (p.Met3081Ile) c.9240G>C (p.Met3080Ile) c.2645G>C c.50G>C n.9276G>C | |
| 19 | g.38512254G= | CA2335059603 | RYR1 | c.9182G= (n.9182G=) c.9243G= (p.Met3081=) c.9240G= (p.Met3080=) c.2645G= c.50G= n.9276G= | |
| 19 | g.38512254G>T | CA405686067 | RYR1 | c.9182G>T (n.9182G>T) c.9243G>T (p.Met3081Ile) c.9240G>T (p.Met3080Ile) c.2645G>T c.50G>T n.9276G>T | |
| 19 | g.38512255A>C | CA405686072 | RYR1 | c.9183A>C (n.9183A>C) c.9244A>C (p.Lys3082Gln) c.9241A>C (p.Lys3081Gln) c.2646A>C c.51A>C n.9277A>C | |
| 19 | g.38512255A>G | CA084494 | RYR1 | c.9183A>G (n.9183A>G) c.9244A>G (p.Lys3082Glu) c.9241A>G (p.Lys3081Glu) c.2646A>G c.51A>G n.9277A>G | |
| 19 | g.38512255A>T | CA405686074 | RYR1 | c.9183A>T (n.9183A>T) c.9244A>T (p.Lys3082Ter) c.9241A>T (p.Lys3081Ter) c.2646A>T c.51A>T n.9277A>T | |
| 19 | g.38512256A>C | CA405686077 | RYR1 | c.9184A>C (n.9184A>C) c.9245A>C (p.Lys3082Thr) c.9242A>C (p.Lys3081Thr) c.2647A>C c.52A>C n.9278A>C | |
| 19 | g.38512256A>G | CA405686079 | RYR1 | c.9184A>G (n.9184A>G) c.9245A>G (p.Lys3082Arg) c.9242A>G (p.Lys3081Arg) c.2647A>G c.52A>G n.9278A>G | |
| 19 | g.38512256A>T | CA405686082 | RYR1 | c.9184A>T (n.9184A>T) c.9245A>T (p.Lys3082Met) c.9242A>T (p.Lys3081Met) c.2647A>T c.52A>T n.9278A>T | |
| 19 | g.38512257G>A | CA084461 | RYR1 | c.9185G>A (n.9185G>A) c.9246G>A (p.Lys3082=) c.9243G>A (p.Lys3081=) c.2648G>A c.53G>A n.9279G>A | |
| 19 | g.38512257G>C | CA405686084 | RYR1 | c.9185G>C (n.9185G>C) c.9246G>C (p.Lys3082Asn) c.9243G>C (p.Lys3081Asn) c.2648G>C c.53G>C n.9279G>C | |
| 19 | g.38512257G>T | CA405686086 | RYR1 | c.9185G>T (n.9185G>T) c.9246G>T (p.Lys3082Asn) c.9243G>T (p.Lys3081Asn) c.2648G>T c.53G>T n.9279G>T | |
| 19 | g.38512258T>A | CA405686088 | RYR1 | c.9186T>A (n.9186T>A) c.9247T>A (p.Ser3083Thr) c.9244T>A (p.Ser3082Thr) c.2649T>A c.54T>A n.9280T>A | |
| 19 | g.38512258T>C | CA405686090 | RYR1 | c.9186T>C (n.9186T>C) c.9247T>C (p.Ser3083Pro) c.9244T>C (p.Ser3082Pro) c.2649T>C c.54T>C n.9280T>C | |
| 19 | g.38512258T>G | CA405686092 | RYR1 | c.9186T>G (n.9186T>G) c.9247T>G (p.Ser3083Ala) c.9244T>G (p.Ser3082Ala) c.2649T>G c.54T>G n.9280T>G | |
| 19 | g.38512259C>A | CA405686095 | RYR1 | c.9187C>A (n.9187C>A) c.9248C>A (p.Ser3083Ter) c.9245C>A (p.Ser3082Ter) c.2650C>A c.55C>A n.9281C>A | |
| 19 | g.38512259C>G | CA405686098 | RYR1 | c.9187C>G (n.9187C>G) c.9248C>G (p.Ser3083Ter) c.9245C>G (p.Ser3082Ter) c.2650C>G c.55C>G n.9281C>G | |
| 19 | g.38512259C>T | CA405686101 | RYR1 | c.9187C>T (n.9187C>T) c.9248C>T (p.Ser3083Leu) c.9245C>T (p.Ser3082Leu) c.2650C>T c.55C>T n.9281C>T | COSMIC |
| 19 | g.38512260A>C | CA507354319 | RYR1 | c.9188A>C (n.9188A>C) c.9249A>C (p.Ser3083=) c.9246A>C (p.Ser3082=) c.2651A>C c.56A>C n.9282A>C | |
| 19 | g.38512260A>G | CA507354320 | RYR1 | c.9188A>G (n.9188A>G) c.9249A>G (p.Ser3083=) c.9246A>G (p.Ser3082=) c.2651A>G c.56A>G n.9282A>G | |
| 19 | g.38512260A>T | CA507354321 | RYR1 | c.9188A>T (n.9188A>T) c.9249A>T (p.Ser3083=) c.9246A>T (p.Ser3082=) c.2651A>T c.56A>T n.9282A>T | |
| 19 | g.38512261G>A | CA405686126 | RYR1 | c.9189G>A (n.9189G>A) c.9250G>A (p.Gly3084Ser) c.9247G>A (p.Gly3083Ser) c.2652G>A c.57G>A n.9283G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38512261G>C | CA405686108 | RYR1 | c.9189G>C (n.9189G>C) c.9250G>C (p.Gly3084Arg) c.9247G>C (p.Gly3083Arg) c.2652G>C c.57G>C n.9283G>C | |
| 19 | g.38512261G= | CA2335059604 | RYR1 | c.9189G= (n.9189G=) c.9250G= (p.Gly3084=) c.9247G= (p.Gly3083=) c.2652G= c.57G= n.9283G= | |
| 19 | g.38512261G>T | CA405686105 | RYR1 | c.9189G>T (n.9189G>T) c.9250G>T (p.Gly3084Cys) c.9247G>T (p.Gly3083Cys) c.2652G>T c.57G>T n.9283G>T | |
| 19 | g.38512262G>A | CA405686129 | RYR1 | c.9190G>A (n.9190G>A) c.9251G>A (p.Gly3084Asp) c.9248G>A (p.Gly3083Asp) c.2653G>A c.58G>A n.9284G>A | |
| 19 | g.38512262G>C | CA405686131 | RYR1 | c.9190G>C (n.9190G>C) c.9251G>C (p.Gly3084Ala) c.9248G>C (p.Gly3083Ala) c.2653G>C c.58G>C n.9284G>C | |
| 19 | g.38512262G>T | CA405686132 | RYR1 | c.9190G>T (n.9190G>T) c.9251G>T (p.Gly3084Val) c.9248G>T (p.Gly3083Val) c.2653G>T c.58G>T n.9284G>T | gnomAD v4 |
| 19 | g.38512263C>A | CA507354325 | RYR1 | c.9191C>A (n.9191C>A) c.9252C>A (p.Gly3084=) c.9249C>A (p.Gly3083=) c.2654C>A c.59C>A n.9285C>A | |
| 19 | g.38512263C= | CA2335059605 | RYR1 | c.9191C= (n.9191C=) c.9252C= (p.Gly3084=) c.9249C= (p.Gly3083=) c.2654C= c.59C= n.9285C= | |
| 19 | g.38512263C>G | CA507354326 | RYR1 | c.9191C>G (n.9191C>G) c.9252C>G (p.Gly3084=) c.9249C>G (p.Gly3083=) c.2654C>G c.59C>G n.9285C>G | |
| 19 | g.38512263C>T | CA507354327 | RYR1 | c.9191C>T (n.9191C>T) c.9252C>T (p.Gly3084=) c.9249C>T (p.Gly3083=) c.2654C>T c.59C>T n.9285C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38512264C>A | CA405686133 | RYR1 | c.9192C>A (n.9192C>A) c.9253C>A (p.Pro3085Thr) c.9250C>A (p.Pro3084Thr) c.2655C>A c.60C>A n.9286C>A | COSMIC |
| 19 | g.38512264C>G | CA405686134 | RYR1 | c.9192C>G (n.9192C>G) c.9253C>G (p.Pro3085Ala) c.9250C>G (p.Pro3084Ala) c.2655C>G c.60C>G n.9286C>G | |
| 19 | g.38512264C>T | CA405686135 | RYR1 | c.9192C>T (n.9192C>T) c.9253C>T (p.Pro3085Ser) c.9250C>T (p.Pro3084Ser) c.2655C>T c.60C>T n.9286C>T | |
| 19 | g.38512265C>A | CA405686137 | RYR1 | c.9193C>A (n.9193C>A) c.9254C>A (p.Pro3085His) c.9251C>A (p.Pro3084His) c.2656C>A c.61C>A n.9287C>A | |
| 19 | g.38512265C>G | CA405686139 | RYR1 | c.9193C>G (n.9193C>G) c.9254C>G (p.Pro3085Arg) c.9251C>G (p.Pro3084Arg) c.2656C>G c.61C>G n.9287C>G | |
| 19 | g.38512265C>T | CA405686140 | RYR1 | c.9193C>T (n.9193C>T) c.9254C>T (p.Pro3085Leu) c.9251C>T (p.Pro3084Leu) c.2656C>T c.61C>T n.9287C>T | gnomAD v4 |
| 19 | g.38512266T>A | CA507354328 | RYR1 | c.9194T>A (n.9194T>A) c.9255T>A (p.Pro3085=) c.9252T>A (p.Pro3084=) c.2657T>A c.62T>A n.9288T>A | |
| 19 | g.38512266T>C | CA507354329 | RYR1 | c.9194T>C (n.9194T>C) c.9255T>C (p.Pro3085=) c.9252T>C (p.Pro3084=) c.2657T>C c.62T>C n.9288T>C | gnomAD v4 |
| 19 | g.38512266T>G | CA507354330 | RYR1 | c.9194T>G (n.9194T>G) c.9255T>G (p.Pro3085=) c.9252T>G (p.Pro3084=) c.2657T>G c.62T>G n.9288T>G | gnomAD v4 |
| 19 | g.38512267G>A | CA405686143 | RYR1 | c.9195G>A (n.9195G>A) c.9256G>A (p.Glu3086Lys) c.9253G>A (p.Glu3085Lys) c.2658G>A c.63G>A n.9289G>A | |
| 19 | g.38512267G>C | CA405686146 | RYR1 | c.9195G>C (n.9195G>C) c.9256G>C (p.Glu3086Gln) c.9253G>C (p.Glu3085Gln) c.2658G>C c.63G>C n.9289G>C | |
| 19 | g.38512267G>T | CA405686150 | RYR1 | c.9195G>T (n.9195G>T) c.9256G>T (p.Glu3086Ter) c.9253G>T (p.Glu3085Ter) c.2658G>T c.63G>T n.9289G>T |