| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | ClinVar 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 | ClinVar |
| 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 |
| 19 | g.38500010G= | CA2335053053 | RYR1 | c.7317G= (p.Glu2439=) c.7314G= (p.Glu2438=) c.769G= n.7400G= | |
| 19 | g.38500010G>T | CA405669669 | RYR1 | c.7317G>T (p.Glu2439Asp) c.7314G>T (p.Glu2438Asp) c.769G>T n.7400G>T | |
| 19 | g.38500011A>C | CA405669670 | RYR1 | c.7318A>C (p.Met2440Leu) c.7315A>C (p.Met2439Leu) c.770A>C n.7401A>C | |
| 19 | g.38500011A>G | CA405669671 | RYR1 | c.7318A>G (p.Met2440Val) c.7315A>G (p.Met2439Val) c.770A>G n.7401A>G | |
| 19 | g.38500011A>T | CA405669672 | RYR1 | c.7318A>T (p.Met2440Leu) c.7315A>T (p.Met2439Leu) c.770A>T n.7401A>T | |
| 19 | g.38500012T>A | CA405669675 | RYR1 | c.7319T>A (p.Met2440Lys) c.7316T>A (p.Met2439Lys) c.771T>A n.7402T>A | |
| 19 | g.38500012T>C | CA405669677 | RYR1 | c.7319T>C (p.Met2440Thr) c.7316T>C (p.Met2439Thr) c.771T>C n.7402T>C | |
| 19 | g.38500012T>G | CA405669676 | RYR1 | c.7319T>G (p.Met2440Arg) c.7316T>G (p.Met2439Arg) c.771T>G n.7402T>G | |
| 19 | g.38500013G>A | CA405669679 | RYR1 | c.7320G>A (p.Met2440Ile) c.7317G>A (p.Met2439Ile) c.772G>A n.7403G>A | gnomAD v4 |
| 19 | g.38500013G>C | CA405669681 | RYR1 | c.7320G>C (p.Met2440Ile) c.7317G>C (p.Met2439Ile) c.772G>C n.7403G>C | |
| 19 | g.38500013G= | CA2335053054 | RYR1 | c.7320G= (p.Met2440=) c.7317G= (p.Met2439=) c.772G= n.7403G= | |
| 19 | g.38500013G>T | CA308109894 | RYR1 | c.7320G>T (p.Met2440Ile) c.7317G>T (p.Met2439Ile) c.772G>T n.7403G>T | dbSNP |
| 19 | g.38500014C>A | CA405669683 | RYR1 | c.7321C>A (p.His2441Asn) c.7318C>A (p.His2440Asn) c.773C>A n.7404C>A | |
| 19 | g.38500014C= | CA2335053055 | RYR1 | c.7321C= (p.His2441=) c.7318C= (p.His2440=) c.773C= n.7404C= | |
| 19 | g.38500014C>G | CA069482 | RYR1 | c.7321C>G (p.His2441Asp) c.7318C>G (p.His2440Asp) c.773C>G n.7404C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38500014C>T | CA405669684 | RYR1 | c.7321C>T (p.His2441Tyr) c.7318C>T (p.His2440Tyr) c.773C>T n.7404C>T | |
| 19 | g.38500015A>C | CA405669685 | RYR1 | c.7322A>C (p.His2441Pro) c.7319A>C (p.His2440Pro) c.774A>C n.7405A>C | gnomAD v4 |
| 19 | g.38500015A>G | CA405669688 | RYR1 | c.7322A>G (p.His2441Arg) c.7319A>G (p.His2440Arg) c.774A>G n.7405A>G | |
| 19 | g.38500015A>T | CA405669691 | RYR1 | c.7322A>T (p.His2441Leu) c.7319A>T (p.His2440Leu) c.774A>T n.7405A>T | |
| 19 | g.38500016T>A | CA405669695 | RYR1 | c.7323T>A (p.His2441Gln) c.7320T>A (p.His2440Gln) c.775T>A n.7406T>A | |
| 19 | g.38500016T>C | CA308109898 | RYR1 | c.7323T>C (p.His2441=) c.7320T>C (p.His2440=) c.775T>C n.7406T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38500016T>G | CA405669697 | RYR1 | c.7323T>G (p.His2441Gln) c.7320T>G (p.His2440Gln) c.775T>G n.7406T>G | dbSNP |
| 19 | g.38500016T= | CA2335053056 | RYR1 | c.7323T= (p.His2441=) c.7320T= (p.His2440=) c.775T= n.7406T= | |
| 19 | g.38500017G>A | CA069484 | RYR1 | c.7323+1G>A (n.7323+1G>A) c.7320+1G>A (n.7320+1G>A) c.775+1G>A n.7406+1G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38500017G>C | CA405669709 | RYR1 | c.7323+1G>C (n.7323+1G>C) c.7320+1G>C (n.7320+1G>C) c.775+1G>C n.7406+1G>C | |
| 19 | g.38500017G= | CA2335053057 | RYR1 | c.7323+1G= (n.7323+1G=) c.7320+1G= (n.7320+1G=) c.775+1G= n.7406+1G= | |
| 19 | g.38500017G>T | CA405669706 | RYR1 | c.7323+1G>T (n.7323+1G>T) c.7320+1G>T (n.7320+1G>T) c.775+1G>T n.7406+1G>T | |
| 19 | g.38500018T>A | CA405669713 | RYR1 | c.7323+2T>A (n.7323+2T>A) c.7320+2T>A (n.7320+2T>A) c.775+2T>A n.7406+2T>A | |
| 19 | g.38500018T>C | CA405669714 | RYR1 | c.7323+2T>C (n.7323+2T>C) c.7320+2T>C (n.7320+2T>C) c.775+2T>C n.7406+2T>C | |
| 19 | g.38500018T>G | CA405669715 | RYR1 | c.7323+2T>G (n.7323+2T>G) c.7320+2T>G (n.7320+2T>G) c.775+2T>G n.7406+2T>G | |
| 19 | g.38500019G>A | CA2576771092 | RYR1 | c.7323+3G>A (n.7323+3G>A) c.7320+3G>A (n.7320+3G>A) c.775+3G>A n.7406+3G>A | |
| 19 | g.38500021G>T | CA2584900092 | RYR1 | c.7323+5G>T (n.7323+5G>T) c.7320+5G>T (n.7320+5G>T) c.775+5G>T n.7406+5G>T | gnomAD v4 |
| 19 | g.38500023C>A | CA069509 | RYR1 | c.7323+7C>A (n.7323+7C>A) c.7320+7C>A (n.7320+7C>A) c.775+7C>A n.7406+7C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38500023C= | CA2335053058 | RYR1 | c.7323+7C= (n.7323+7C=) c.7320+7C= (n.7320+7C=) c.775+7C= n.7406+7C= |