Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38499997G>A | CA024750 | RYR1 | c.7304G>A (p.Arg2435His) c.7301G>A (p.Arg2434His) c.756G>A n.7387G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38499997G>C | CA405669594 | RYR1 | c.7304G>C (p.Arg2435Pro) c.7301G>C (p.Arg2434Pro) c.756G>C n.7387G>C | |
19 | g.38499997G= | CA2335053045 | RYR1 | c.7304G= (p.Arg2435=) c.7301G= (p.Arg2434=) c.756G= n.7387G= | |
19 | g.38499997G>T | CA024753 | RYR1 | c.7304G>T (p.Arg2435Leu) c.7301G>T (p.Arg2434Leu) c.756G>T n.7387G>T | ClinVar dbSNP gnomAD v4 |
19 | g.38499998C>A | CA507353792 | RYR1 | c.7305C>A (p.Arg2435=) c.7302C>A (p.Arg2434=) c.757C>A n.7388C>A | |
19 | g.38499998C= | CA2335053047 | RYR1 | c.7305C= (p.Arg2435=) c.7302C= (p.Arg2434=) c.757C= n.7388C= | |
19 | g.38499998C>G | CA507353793 | RYR1 | c.7305C>G (p.Arg2435=) c.7302C>G (p.Arg2434=) c.757C>G n.7388C>G | |
19 | g.38499998C>T | CA507353794 | RYR1 | c.7305C>T (p.Arg2435=) c.7302C>T (p.Arg2434=) c.757C>T n.7388C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499998_38500000delinsCTG | CA2335053046 | RYR1 | c.7305_7307delinsCTG (p.Arg2435=) c.7302_7304delinsCTG (p.Arg2434=) c.757_759delinsCTG n.7388_7390delinsCTG | |
19 | g.38499999T>A | CA405669612 | RYR1 | c.7306T>A (p.Cys2436Ser) c.7303T>A (p.Cys2435Ser) c.758T>A n.7389T>A | |
19 | g.38499999T>C | CA405669615 | RYR1 | c.7306T>C (p.Cys2436Arg) c.7303T>C (p.Cys2435Arg) c.758T>C n.7389T>C | gnomAD v4 |
19 | g.38499999T>G | CA405669614 | RYR1 | c.7306T>G (p.Cys2436Gly) c.7303T>G (p.Cys2435Gly) c.758T>G n.7389T>G | |
19 | g.38500001_38500002del | CA069470 | RYR1 | c.7308_7309del (p.Ala2437ThrfsTer12) c.7305_7306del (p.Ala2436ThrfsTer12) c.760_761del n.7391_7392del | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38500000G>A | CA405669616 | RYR1 | c.7307G>A (p.Cys2436Tyr) c.7304G>A (p.Cys2435Tyr) c.759G>A n.7390G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38500000G>C | CA405669618 | RYR1 | c.7307G>C (p.Cys2436Ser) c.7304G>C (p.Cys2435Ser) c.759G>C n.7390G>C | |
19 | g.38500000G>T | CA405669620 | RYR1 | c.7307G>T (p.Cys2436Phe) c.7304G>T (p.Cys2435Phe) c.759G>T n.7390G>T | |
19 | g.38500001T>A | CA405669622 | RYR1 | c.7308T>A (p.Cys2436Ter) c.7305T>A (p.Cys2435Ter) c.760T>A n.7391T>A | |
19 | g.38500001T>C | CA069474 | RYR1 | c.7308T>C (p.Cys2436=) c.7305T>C (p.Cys2435=) c.760T>C n.7391T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500001T>G | CA405669624 | RYR1 | c.7308T>G (p.Cys2436Trp) c.7305T>G (p.Cys2435Trp) c.760T>G n.7391T>G | |
19 | g.38500001T= | CA2335053048 | RYR1 | c.7308T= (p.Cys2436=) c.7305T= (p.Cys2435=) c.760T= n.7391T= | |
19 | g.38500002G>A | CA405669626 | RYR1 | c.7309G>A (p.Ala2437Thr) c.7306G>A (p.Ala2436Thr) c.761G>A n.7392G>A | |
19 | g.38500002G>C | CA405669628 | RYR1 | c.7309G>C (p.Ala2437Pro) c.7306G>C (p.Ala2436Pro) c.761G>C n.7392G>C | |
19 | g.38500002G>T | CA405669635 | RYR1 | c.7309G>T (p.Ala2437Ser) c.7306G>T (p.Ala2436Ser) c.761G>T n.7392G>T | |
19 | g.38500003C>A | CA405669640 | RYR1 | c.7310C>A (p.Ala2437Glu) c.7307C>A (p.Ala2436Glu) c.762C>A n.7393C>A | |
19 | g.38500003C= | CA2335053049 | RYR1 | c.7310C= (p.Ala2437=) c.7307C= (p.Ala2436=) c.762C= n.7393C= | |
19 | g.38500003C>G | CA405669638 | RYR1 | c.7310C>G (p.Ala2437Gly) c.7307C>G (p.Ala2436Gly) c.762C>G n.7393C>G | |
19 | g.38500003C>T | CA024756 | RYR1 | c.7310C>T (p.Ala2437Val) c.7307C>T (p.Ala2436Val) c.762C>T n.7393C>T | ClinVar dbSNP |
19 | g.38500004A= | CA2335053050 | RYR1 | c.7311A= (p.Ala2437=) c.7308A= (p.Ala2436=) c.763A= n.7394A= | |
19 | g.38500004A>C | CA308109874 | RYR1 | c.7311A>C (p.Ala2437=) c.7308A>C (p.Ala2436=) c.763A>C n.7394A>C | dbSNP |
19 | g.38500004A>G | CA507353803 | RYR1 | c.7311A>G (p.Ala2437=) c.7308A>G (p.Ala2436=) c.763A>G n.7394A>G | gnomAD v4 |
19 | g.38500004A>T | CA507353804 | RYR1 | c.7311A>T (p.Ala2437=) c.7308A>T (p.Ala2436=) c.763A>T n.7394A>T | |
19 | g.38500005C>A | CA405669642 | RYR1 | c.7312C>A (p.Pro2438Thr) c.7309C>A (p.Pro2437Thr) c.764C>A n.7395C>A | |
19 | g.38500005C>G | CA405669645 | RYR1 | c.7312C>G (p.Pro2438Ala) c.7309C>G (p.Pro2437Ala) c.764C>G n.7395C>G | gnomAD v4 |
19 | g.38500005C>T | CA405669643 | RYR1 | c.7312C>T (p.Pro2438Ser) c.7309C>T (p.Pro2437Ser) c.764C>T n.7395C>T | gnomAD v3 gnomAD v4 |
19 | g.38500006C>A | CA405669650 | RYR1 | c.7313C>A (p.Pro2438Gln) c.7310C>A (p.Pro2437Gln) c.765C>A n.7396C>A | |
19 | g.38500006C>G | CA405669651 | RYR1 | c.7313C>G (p.Pro2438Arg) c.7310C>G (p.Pro2437Arg) c.765C>G n.7396C>G | |
19 | g.38500006C>T | CA405669657 | RYR1 | c.7313C>T (p.Pro2438Leu) c.7310C>T (p.Pro2437Leu) c.765C>T n.7396C>T | |
19 | g.38500007A= | CA2335053051 | RYR1 | c.7314A= (p.Pro2438=) c.7311A= (p.Pro2437=) c.766A= n.7397A= | |
19 | g.38500007A>C | CA507353806 | RYR1 | c.7314A>C (p.Pro2438=) c.7311A>C (p.Pro2437=) c.766A>C n.7397A>C | |
19 | g.38500007A>G | CA507353807 | RYR1 | c.7314A>G (p.Pro2438=) c.7311A>G (p.Pro2437=) c.766A>G n.7397A>G | dbSNP gnomAD v4 |
19 | g.38500007A>T | CA507353808 | RYR1 | c.7314A>T (p.Pro2438=) c.7311A>T (p.Pro2437=) c.766A>T n.7397A>T | |
19 | g.38500008G>A | CA405669658 | RYR1 | c.7315G>A (p.Glu2439Lys) c.7312G>A (p.Glu2438Lys) c.767G>A n.7398G>A | ClinVar dbSNP |
19 | g.38500008G>C | CA405669659 | RYR1 | c.7315G>C (p.Glu2439Gln) c.7312G>C (p.Glu2438Gln) c.767G>C n.7398G>C | |
19 | g.38500008G= | CA2335053052 | RYR1 | c.7315G= (p.Glu2439=) c.7312G= (p.Glu2438=) c.767G= n.7398G= | |
19 | g.38500008G>T | CA405669660 | RYR1 | c.7315G>T (p.Glu2439Ter) c.7312G>T (p.Glu2438Ter) c.767G>T n.7398G>T | gnomAD v4 |
19 | g.38500009A>C | CA405669666 | RYR1 | c.7316A>C (p.Glu2439Ala) c.7313A>C (p.Glu2438Ala) c.768A>C n.7399A>C | |
19 | g.38500009A>G | CA405669662 | RYR1 | c.7316A>G (p.Glu2439Gly) c.7313A>G (p.Glu2438Gly) c.768A>G n.7399A>G | |
19 | g.38500009A>T | CA405669664 | RYR1 | c.7316A>T (p.Glu2439Val) c.7313A>T (p.Glu2438Val) c.768A>T n.7399A>T | |
19 | g.38500010G>A | CA507353812 | RYR1 | c.7317G>A (p.Glu2439=) c.7314G>A (p.Glu2438=) c.769G>A n.7400G>A | |
19 | g.38500010G>C | CA024758 | RYR1 | c.7317G>C (p.Glu2439Asp) c.7314G>C (p.Glu2438Asp) c.769G>C n.7400G>C | ClinVar dbSNP |