| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38504319C>A | CA507244268 | RYR1 | c.8026C>A (p.Arg2676=) c.8023C>A (p.Arg2675=) c.1478C>A n.8109C>A | gnomAD v4 |
| 19 | g.38504319C= | CA2335055611 | RYR1 | c.8026C= (p.Arg2676=) c.8023C= (p.Arg2675=) c.1478C= n.8109C= | |
| 19 | g.38504319C>G | CA405676023 | RYR1 | c.8026C>G (p.Arg2676Gly) c.8023C>G (p.Arg2675Gly) c.1478C>G n.8109C>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38504319C>T | CA024883 | RYR1 | c.8026C>T (p.Arg2676Trp) c.8023C>T (p.Arg2675Trp) c.1478C>T n.8109C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.[38504319C>T;38505358C>G] | CA185857 | RYR1 | c.[8026C>T;8360C>G] (p.[Arg2676Trp;Thr2787Ser]) c.[8023C>T;8357C>G] (p.[Arg2675Trp;Thr2786Ser]) c.[1478C>T;1812C>G] n.[8109C>T;8443C>G] | ClinVar |
| 19 | g.38504320G>A | CA071308 | RYR1 | c.8027G>A (p.Arg2676Gln) c.8024G>A (p.Arg2675Gln) c.1479G>A n.8110G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38504320G>C | CA405676027 | RYR1 | c.8027G>C (p.Arg2676Pro) c.8024G>C (p.Arg2675Pro) c.1479G>C n.8110G>C | |
| 19 | g.38504320G= | CA2335055612 | RYR1 | c.8027G= (p.Arg2676=) c.8024G= (p.Arg2675=) c.1479G= n.8110G= | |
| 19 | g.38504320G>T | CA405676028 | RYR1 | c.8027G>T (p.Arg2676Leu) c.8024G>T (p.Arg2675Leu) c.1479G>T n.8110G>T | |
| 19 | g.38504321G>A | CA507244269 | RYR1 | c.8028G>A (p.Arg2676=) c.8025G>A (p.Arg2675=) c.1480G>A n.8111G>A | |
| 19 | g.38504321G>C | CA507244270 | RYR1 | c.8028G>C (p.Arg2676=) c.8025G>C (p.Arg2675=) c.1480G>C n.8111G>C | |
| 19 | g.38504321G>T | CA507244271 | RYR1 | c.8028G>T (p.Arg2676=) c.8025G>T (p.Arg2675=) c.1480G>T n.8111G>T | |
| 19 | g.38504322A>C | CA405676031 | RYR1 | c.8029A>C (p.Lys2677Gln) c.8026A>C (p.Lys2676Gln) c.1481A>C n.8112A>C | |
| 19 | g.38504322A>G | CA405676032 | RYR1 | c.8029A>G (p.Lys2677Glu) c.8026A>G (p.Lys2676Glu) c.1481A>G n.8112A>G | |
| 19 | g.38504322A>T | CA405676035 | RYR1 | c.8029A>T (p.Lys2677Ter) c.8026A>T (p.Lys2676Ter) c.1481A>T n.8112A>T | |
| 19 | g.38504323A>C | CA405676036 | RYR1 | c.8030A>C (p.Lys2677Thr) c.8027A>C (p.Lys2676Thr) c.1482A>C n.8113A>C | ClinVar |
| 19 | g.38504323A>G | CA405676039 | RYR1 | c.8030A>G (p.Lys2677Arg) c.8027A>G (p.Lys2676Arg) c.1482A>G n.8113A>G | |
| 19 | g.38504323A>T | CA405676038 | RYR1 | c.8030A>T (p.Lys2677Ile) c.8027A>T (p.Lys2676Ile) c.1482A>T n.8113A>T | |
| 19 | g.38504324A= | CA2335055613 | RYR1 | c.8031A= (p.Lys2677=) c.8028A= (p.Lys2676=) c.1483A= n.8114A= | |
| 19 | g.38504324A>C | CA405676041 | RYR1 | c.8031A>C (p.Lys2677Asn) c.8028A>C (p.Lys2676Asn) c.1483A>C n.8114A>C | |
| 19 | g.38504324A>G | CA071315 | RYR1 | c.8031A>G (p.Lys2677=) c.8028A>G (p.Lys2676=) c.1483A>G n.8114A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38504324A>T | CA071322 | RYR1 | c.8031A>T (p.Lys2677Asn) c.8028A>T (p.Lys2676Asn) c.1483A>T n.8114A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38504325C>A | CA405676045 | RYR1 | c.8032C>A (p.Leu2678Ile) c.8029C>A (p.Leu2677Ile) c.1484C>A n.8115C>A | |
| 19 | g.38504325C>G | CA405676048 | RYR1 | c.8032C>G (p.Leu2678Val) c.8029C>G (p.Leu2677Val) c.1484C>G n.8115C>G | |
| 19 | g.38504325C>T | CA405676051 | RYR1 | c.8032C>T (p.Leu2678Phe) c.8029C>T (p.Leu2677Phe) c.1484C>T n.8115C>T | gnomAD v4 |
| 19 | g.38504326T>A | CA405676052 | RYR1 | c.8033T>A (p.Leu2678His) c.8030T>A (p.Leu2677His) c.1485T>A n.8116T>A | dbSNP gnomAD v4 |
| 19 | g.38504326T>C | CA405676055 | RYR1 | c.8033T>C (p.Leu2678Pro) c.8030T>C (p.Leu2677Pro) c.1485T>C n.8116T>C | |
| 19 | g.38504326T>G | CA405676057 | RYR1 | c.8033T>G (p.Leu2678Arg) c.8030T>G (p.Leu2677Arg) c.1485T>G n.8116T>G | |
| 19 | g.38504326T= | CA2335055614 | RYR1 | c.8033T= (p.Leu2678=) c.8030T= (p.Leu2677=) c.1485T= n.8116T= | |
| 19 | g.38504327C>A | CA507244272 | RYR1 | c.8034C>A (p.Leu2678=) c.8031C>A (p.Leu2677=) c.1486C>A n.8117C>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38504327C= | CA2335055615 | RYR1 | c.8034C= (p.Leu2678=) c.8031C= (p.Leu2677=) c.1486C= n.8117C= | |
| 19 | g.38504327C>G | CA507244273 | RYR1 | c.8034C>G (p.Leu2678=) c.8031C>G (p.Leu2677=) c.1486C>G n.8117C>G | |
| 19 | g.38504327C>T | CA507244274 | RYR1 | c.8034C>T (p.Leu2678=) c.8031C>T (p.Leu2677=) c.1486C>T n.8117C>T | |
| 19 | g.38504328T>A | CA071329 | RYR1 | c.8035T>A (p.Phe2679Ile) c.8032T>A (p.Phe2678Ile) c.1487T>A n.8118T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38504328T>C | CA405676061 | RYR1 | c.8035T>C (p.Phe2679Leu) c.8032T>C (p.Phe2678Leu) c.1487T>C n.8118T>C | |
| 19 | g.38504328T>G | CA405676058 | RYR1 | c.8035T>G (p.Phe2679Val) c.8032T>G (p.Phe2678Val) c.1487T>G n.8118T>G | |
| 19 | g.38504328T= | CA2335055616 | RYR1 | c.8035T= (p.Phe2679=) c.8032T= (p.Phe2678=) c.1487T= n.8118T= | |
| 19 | g.38504329T>A | CA405676064 | RYR1 | c.8036T>A (p.Phe2679Tyr) c.8033T>A (p.Phe2678Tyr) c.1488T>A n.8119T>A | dbSNP |
| 19 | g.38504329T>C | CA405676066 | RYR1 | c.8036T>C (p.Phe2679Ser) c.8033T>C (p.Phe2678Ser) c.1488T>C n.8119T>C | |
| 19 | g.38504329T>G | CA405676068 | RYR1 | c.8036T>G (p.Phe2679Cys) c.8033T>G (p.Phe2678Cys) c.1488T>G n.8119T>G | |
| 19 | g.38504329T= | CA2335055617 | RYR1 | c.8036T= (p.Phe2679=) c.8033T= (p.Phe2678=) c.1488T= n.8119T= | |
| 19 | g.38504330C>A | CA405676070 | RYR1 | c.8037C>A (p.Phe2679Leu) c.8034C>A (p.Phe2678Leu) c.1489C>A n.8120C>A | |
| 19 | g.38504330C>G | CA405676072 | RYR1 | c.8037C>G (p.Phe2679Leu) c.8034C>G (p.Phe2678Leu) c.1489C>G n.8120C>G | |
| 19 | g.38504330C>T | CA507244275 | RYR1 | c.8037C>T (p.Phe2679=) c.8034C>T (p.Phe2678=) c.1489C>T n.8120C>T | |
| 19 | g.38504331T>A | CA083041 | RYR1 | c.8038T>A (p.Trp2680Arg) c.8035T>A (p.Trp2679Arg) c.1490T>A n.8121T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38504331T>C | CA405676073 | RYR1 | c.8038T>C (p.Trp2680Arg) c.8035T>C (p.Trp2679Arg) c.1490T>C n.8121T>C | |
| 19 | g.38504331T>G | CA405676076 | RYR1 | c.8038T>G (p.Trp2680Gly) c.8035T>G (p.Trp2679Gly) c.1490T>G n.8121T>G | |
| 19 | g.38504331T= | CA2335055618 | RYR1 | c.8038T= (p.Trp2680=) c.8035T= (p.Trp2679=) c.1490T= n.8121T= | |
| 19 | g.38504332G>A | CA405676078 | RYR1 | c.8039G>A (p.Trp2680Ter) c.8036G>A (p.Trp2679Ter) c.1491G>A n.8122G>A | COSMIC |
| 19 | g.38504332G>C | CA405676086 | RYR1 | c.8039G>C (p.Trp2680Ser) c.8036G>C (p.Trp2679Ser) c.1491G>C n.8122G>C |