| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38496230_38496232delinsCAA | CA2335051141 | RYR1 | c.6564_6566delinsCAA (p.Asn2188=) c.6561_6563delinsCAA (p.Asn2187=) c.16_18delinsCAA n.6647_6649delinsCAA | |
| 19 | g.38496232_38496233del | CA16620836 | RYR1 | c.6566_6567del (p.Lys2189SerfsTer?) c.6563_6564del (p.Lys2188SerfsTer?) c.18_19del n.6649_6650del | ClinVar dbSNP |
| 19 | g.38496232A>C | CA405665585 | RYR1 | c.6566A>C (p.Lys2189Thr) c.6563A>C (p.Lys2188Thr) c.18A>C n.6649A>C | |
| 19 | g.38496232A>G | CA405665587 | RYR1 | c.6566A>G (p.Lys2189Arg) c.6563A>G (p.Lys2188Arg) c.18A>G n.6649A>G | gnomAD v4 |
| 19 | g.38496232A>T | CA405665594 | RYR1 | c.6566A>T (p.Lys2189Ile) c.6563A>T (p.Lys2188Ile) c.18A>T n.6649A>T | |
| 19 | g.38496233A>C | CA405665595 | RYR1 | c.6567A>C (p.Lys2189Asn) c.6564A>C (p.Lys2188Asn) c.19A>C n.6650A>C | ClinVar gnomAD v4 |
| 19 | g.38496233A>G | CA507353520 | RYR1 | c.6567A>G (p.Lys2189=) c.6564A>G (p.Lys2188=) c.19A>G n.6650A>G | |
| 19 | g.38496233A>T | CA405665597 | RYR1 | c.6567A>T (p.Lys2189Asn) c.6564A>T (p.Lys2188Asn) c.19A>T n.6650A>T | |
| 19 | g.38496234G>A | CA405665600 | RYR1 | c.6568G>A (p.Val2190Ile) c.6565G>A (p.Val2189Ile) c.20G>A n.6651G>A | |
| 19 | g.38496234G>C | CA405665602 | RYR1 | c.6568G>C (p.Val2190Leu) c.6565G>C (p.Val2189Leu) c.20G>C n.6651G>C | |
| 19 | g.38496234G>T | CA405665604 | RYR1 | c.6568G>T (p.Val2190Phe) c.6565G>T (p.Val2189Phe) c.20G>T n.6651G>T | |
| 19 | g.38496235T>A | CA405665611 | RYR1 | c.6569T>A (p.Val2190Asp) c.6566T>A (p.Val2189Asp) c.21T>A n.6652T>A | |
| 19 | g.38496235T>C | CA405665609 | RYR1 | c.6569T>C (p.Val2190Ala) c.6566T>C (p.Val2189Ala) c.21T>C n.6652T>C | |
| 19 | g.38496235T>G | CA405665607 | RYR1 | c.6569T>G (p.Val2190Gly) c.6566T>G (p.Val2189Gly) c.21T>G n.6652T>G | |
| 19 | g.38496236C>A | CA507353521 | RYR1 | c.6570C>A (p.Val2190=) c.6567C>A (p.Val2189=) c.22C>A n.6653C>A | |
| 19 | g.38496236C>G | CA507353522 | RYR1 | c.6570C>G (p.Val2190=) c.6567C>G (p.Val2189=) c.22C>G n.6653C>G | |
| 19 | g.38496236C>T | CA082101 | RYR1 | c.6570C>T (p.Val2190=) c.6567C>T (p.Val2189=) c.22C>T n.6653C>T | gnomAD v4 |
| 19 | g.38496237T>A | CA405665615 | RYR1 | c.6571T>A (p.Phe2191Ile) c.6568T>A (p.Phe2190Ile) c.23T>A n.6654T>A | |
| 19 | g.38496237T>C | CA405665616 | RYR1 | c.6571T>C (p.Phe2191Leu) c.6568T>C (p.Phe2190Leu) c.23T>C n.6654T>C | |
| 19 | g.38496237T>G | CA405665621 | RYR1 | c.6571T>G (p.Phe2191Val) c.6568T>G (p.Phe2190Val) c.23T>G n.6654T>G | |
| 19 | g.38496238T>A | CA405665625 | RYR1 | c.6572T>A (p.Phe2191Tyr) c.6569T>A (p.Phe2190Tyr) c.24T>A n.6655T>A | |
| 19 | g.38496238T>C | CA405665627 | RYR1 | c.6572T>C (p.Phe2191Ser) c.6569T>C (p.Phe2190Ser) c.24T>C n.6655T>C | |
| 19 | g.38496238T>G | CA405665629 | RYR1 | c.6572T>G (p.Phe2191Cys) c.6569T>G (p.Phe2190Cys) c.24T>G n.6655T>G | |
| 19 | g.38496239C>A | CA405665630 | RYR1 | c.6573C>A (p.Phe2191Leu) c.6570C>A (p.Phe2190Leu) c.25C>A n.6656C>A | |
| 19 | g.38496239C= | CA2335051142 | RYR1 | c.6573C= (p.Phe2191=) c.6570C= (p.Phe2190=) c.25C= n.6656C= | |
| 19 | g.38496239C>G | CA405665631 | RYR1 | c.6573C>G (p.Phe2191Leu) c.6570C>G (p.Phe2190Leu) c.25C>G n.6656C>G | |
| 19 | g.38496239C>T | CA068437 | RYR1 | c.6573C>T (p.Phe2191=) c.6570C>T (p.Phe2190=) c.25C>T n.6656C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38496240T>A | CA405665632 | RYR1 | c.6574T>A (p.Tyr2192Asn) c.6571T>A (p.Tyr2191Asn) c.26T>A n.6657T>A | |
| 19 | g.38496240T>C | CA405665634 | RYR1 | c.6574T>C (p.Tyr2192His) c.6571T>C (p.Tyr2191His) c.26T>C n.6657T>C | |
| 19 | g.38496240T>G | CA405665636 | RYR1 | c.6574T>G (p.Tyr2192Asp) c.6571T>G (p.Tyr2191Asp) c.26T>G n.6657T>G | gnomAD v4 |
| 19 | g.38496241A= | CA2335051143 | RYR1 | c.6575A= (p.Tyr2192=) c.6572A= (p.Tyr2191=) c.27A= n.6658A= | |
| 19 | g.38496241A>C | CA405665642 | RYR1 | c.6575A>C (p.Tyr2192Ser) c.6572A>C (p.Tyr2191Ser) c.27A>C n.6658A>C | |
| 19 | g.38496241A>G | CA068441 | RYR1 | c.6575A>G (p.Tyr2192Cys) c.6572A>G (p.Tyr2191Cys) c.27A>G n.6658A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38496241A>T | CA405665638 | RYR1 | c.6575A>T (p.Tyr2192Phe) c.6572A>T (p.Tyr2191Phe) c.27A>T n.6658A>T | |
| 19 | g.38496242C>A | CA082102 | RYR1 | c.6576C>A (p.Tyr2192Ter) c.6573C>A (p.Tyr2191Ter) c.28C>A n.6659C>A | |
| 19 | g.38496242C= | CA2335051144 | RYR1 | c.6576C= (p.Tyr2192=) c.6573C= (p.Tyr2191=) c.28C= n.6659C= | |
| 19 | g.38496242C>G | CA405665646 | RYR1 | c.6576C>G (p.Tyr2192Ter) c.6573C>G (p.Tyr2191Ter) c.28C>G n.6659C>G | |
| 19 | g.38496242C>T | CA082132 | RYR1 | c.6576C>T (p.Tyr2192=) c.6573C>T (p.Tyr2191=) c.28C>T n.6659C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.38496243C>A | CA405665648 | RYR1 | c.6577C>A (p.Gln2193Lys) c.6574C>A (p.Gln2192Lys) c.29C>A n.6660C>A | |
| 19 | g.38496243C>G | CA405665651 | RYR1 | c.6577C>G (p.Gln2193Glu) c.6574C>G (p.Gln2192Glu) c.29C>G n.6660C>G | |
| 19 | g.38496243C>T | CA405665653 | RYR1 | c.6577C>T (p.Gln2193Ter) c.6574C>T (p.Gln2192Ter) c.29C>T n.6660C>T | ClinVar COSMIC |
| 19 | g.38496244A>C | CA405665655 | RYR1 | c.6578A>C (p.Gln2193Pro) c.6575A>C (p.Gln2192Pro) c.30A>C n.6661A>C | |
| 19 | g.38496244A>G | CA082103 | RYR1 | c.6578A>G (p.Gln2193Arg) c.6575A>G (p.Gln2192Arg) c.30A>G n.6661A>G | |
| 19 | g.38496244A>T | CA405665659 | RYR1 | c.6578A>T (p.Gln2193Leu) c.6575A>T (p.Gln2192Leu) c.30A>T n.6661A>T | |
| 19 | g.38496245A>C | CA405665662 | RYR1 | c.6579A>C (p.Gln2193His) c.6576A>C (p.Gln2192His) c.31A>C n.6662A>C | |
| 19 | g.38496245A>G | CA507353531 | RYR1 | c.6579A>G (p.Gln2193=) c.6576A>G (p.Gln2192=) c.31A>G n.6662A>G | |
| 19 | g.38496245A>T | CA405665665 | RYR1 | c.6579A>T (p.Gln2193His) c.6576A>T (p.Gln2192His) c.31A>T n.6662A>T | |
| 19 | g.38496246C>A | CA405665668 | RYR1 | c.6580C>A (p.His2194Asn) c.6577C>A (p.His2193Asn) c.32C>A n.6663C>A | ClinVar dbSNP |
| 19 | g.38496246C>G | CA405665671 | RYR1 | c.6580C>G (p.His2194Asp) c.6577C>G (p.His2193Asp) c.32C>G n.6663C>G | |
| 19 | g.38496246C>T | CA405665674 | RYR1 | c.6580C>T (p.His2194Tyr) c.6577C>T (p.His2193Tyr) c.32C>T n.6663C>T | gnomAD v4 |