Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38496227C>A | CA405665536 | RYR1 | c.6561C>A (p.Asn2187Lys) c.6558C>A (p.Asn2186Lys) c.13C>A n.6644C>A | |
19 | g.38496227C= | CA2335051138 | RYR1 | c.6561C= (p.Asn2187=) c.6558C= (p.Asn2186=) c.13C= n.6644C= | |
19 | g.38496227C>G | CA405665539 | RYR1 | c.6561C>G (p.Asn2187Lys) c.6558C>G (p.Asn2186Lys) c.13C>G n.6644C>G | |
19 | g.38496227C>T | CA068429 | RYR1 | c.6561C>T (p.Asn2187=) c.6558C>T (p.Asn2186=) c.13C>T n.6644C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38496228A= | CA2335051139 | RYR1 | c.6562A= (p.Asn2188=) c.6559A= (p.Asn2187=) c.14A= n.6645A= | |
19 | g.38496228A>C | CA405665546 | RYR1 | c.6562A>C (p.Asn2188His) c.6559A>C (p.Asn2187His) c.14A>C n.6645A>C | |
19 | g.38496228A>G | CA068433 | RYR1 | c.6562A>G (p.Asn2188Asp) c.6559A>G (p.Asn2187Asp) c.14A>G n.6645A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38496228A>T | CA405665549 | RYR1 | c.6562A>T (p.Asn2188Tyr) c.6559A>T (p.Asn2187Tyr) c.14A>T n.6645A>T | |
19 | g.38496229A>C | CA405665553 | RYR1 | c.6563A>C (p.Asn2188Thr) c.6560A>C (p.Asn2187Thr) c.15A>C n.6646A>C | |
19 | g.38496229A>G | CA405665556 | RYR1 | c.6563A>G (p.Asn2188Ser) c.6560A>G (p.Asn2187Ser) c.15A>G n.6646A>G | |
19 | g.38496229A>T | CA405665557 | RYR1 | c.6563A>T (p.Asn2188Ile) c.6560A>T (p.Asn2187Ile) c.15A>T n.6646A>T | |
19 | g.38496230C>A | CA405665559 | RYR1 | c.6564C>A (p.Asn2188Lys) c.6561C>A (p.Asn2187Lys) c.16C>A n.6647C>A | |
19 | g.38496230C= | CA2335051140 | RYR1 | c.6564C= (p.Asn2188=) c.6561C= (p.Asn2187=) c.16C= n.6647C= | |
19 | g.38496230C>G | CA024612 | RYR1 | c.6564C>G (p.Asn2188Lys) c.6561C>G (p.Asn2187Lys) c.16C>G n.6647C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496230C>T | CA082129 | RYR1 | c.6564C>T (p.Asn2188=) c.6561C>T (p.Asn2187=) c.16C>T n.6647C>T | gnomAD v4 |
19 | g.38496230_38496232delinsCAA | CA2335051141 | RYR1 | c.6564_6566delinsCAA (p.Asn2188=) c.6561_6563delinsCAA (p.Asn2187=) c.16_18delinsCAA n.6647_6649delinsCAA | |
19 | g.38496231A>C | CA405665564 | RYR1 | c.6565A>C (p.Lys2189Gln) c.6562A>C (p.Lys2188Gln) c.17A>C n.6648A>C | |
19 | g.38496231A>G | CA082130 | RYR1 | c.6565A>G (p.Lys2189Glu) c.6562A>G (p.Lys2188Glu) c.17A>G n.6648A>G | |
19 | g.38496231A>T | CA405665577 | RYR1 | c.6565A>T (p.Lys2189Ter) c.6562A>T (p.Lys2188Ter) c.17A>T n.6648A>T | |
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 |
19 | g.38496247A= | CA2335051145 | RYR1 | c.6581A= (p.His2194=) c.6578A= (p.His2193=) c.33A= n.6664A= | |
19 | g.38496247A>C | CA405665682 | RYR1 | c.6581A>C (p.His2194Pro) c.6578A>C (p.His2193Pro) c.33A>C n.6664A>C | dbSNP |
19 | g.38496247A>G | CA405665679 | RYR1 | c.6581A>G (p.His2194Arg) c.6578A>G (p.His2193Arg) c.33A>G n.6664A>G | |
19 | g.38496247A>T | CA405665676 | RYR1 | c.6581A>T (p.His2194Leu) c.6578A>T (p.His2193Leu) c.33A>T n.6664A>T | |
19 | g.38496248C>A | CA405665683 | RYR1 | c.6582C>A (p.His2194Gln) c.6579C>A (p.His2193Gln) c.34C>A n.6665C>A | |
19 | g.38496248C= | CA2335051146 | RYR1 | c.6582C= (p.His2194=) c.6579C= (p.His2193=) c.34C= n.6665C= | |
19 | g.38496248C>G | CA405665685 | RYR1 | c.6582C>G (p.His2194Gln) c.6579C>G (p.His2193Gln) c.34C>G n.6665C>G | |
19 | g.38496248C>T | CA308103989 | RYR1 | c.6582C>T (p.His2194=) c.6579C>T (p.His2193=) c.34C>T n.6665C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38496249C>A | CA405665687 | RYR1 | c.6583C>A (p.Pro2195Thr) c.6580C>A (p.Pro2194Thr) c.35C>A n.6666C>A | |
19 | g.38496249C>G | CA405665696 | RYR1 | c.6583C>G (p.Pro2195Ala) c.6580C>G (p.Pro2194Ala) c.35C>G n.6666C>G | |
19 | g.38496249C>T | CA405665699 | RYR1 | c.6583C>T (p.Pro2195Ser) c.6580C>T (p.Pro2194Ser) c.35C>T n.6666C>T | gnomAD v4 COSMIC |
19 | g.38496250C>A | CA405665703 | RYR1 | c.6584C>A (p.Pro2195Gln) c.6581C>A (p.Pro2194Gln) c.36C>A n.6667C>A | gnomAD v4 |
19 | g.38496250C= | CA2335051147 | RYR1 | c.6584C= (p.Pro2195=) c.6581C= (p.Pro2194=) c.36C= n.6667C= | |
19 | g.38496250C>G | CA405665705 | RYR1 | c.6584C>G (p.Pro2195Arg) c.6581C>G (p.Pro2194Arg) c.36C>G n.6667C>G | |
19 | g.38496250C>T | CA068442 | RYR1 | c.6584C>T (p.Pro2195Leu) c.6581C>T (p.Pro2194Leu) c.36C>T n.6667C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496251G>A | CA068447 | RYR1 | c.6585G>A (p.Pro2195=) c.6582G>A (p.Pro2194=) c.37G>A n.6668G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496251G>C | CA507353540 | RYR1 | c.6585G>C (p.Pro2195=) c.6582G>C (p.Pro2194=) c.37G>C n.6668G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38496251G= | CA2335051148 | RYR1 | c.6585G= (p.Pro2195=) c.6582G= (p.Pro2194=) c.37G= n.6668G= | |
19 | g.38496251G>T | CA507353541 | RYR1 | c.6585G>T (p.Pro2195=) c.6582G>T (p.Pro2194=) c.37G>T n.6668G>T | |
19 | g.38496252A>C | CA405665711 | RYR1 | c.6586A>C (p.Asn2196His) c.6583A>C (p.Asn2195His) c.38A>C n.6669A>C | gnomAD v4 |
19 | g.38496252A>G | CA405665713 | RYR1 | c.6586A>G (p.Asn2196Asp) c.6583A>G (p.Asn2195Asp) c.38A>G n.6669A>G | gnomAD v4 |
19 | g.38496252A>T | CA405665717 | RYR1 | c.6586A>T (p.Asn2196Tyr) c.6583A>T (p.Asn2195Tyr) c.38A>T n.6669A>T | |
19 | g.38496253A= | CA2335051149 | RYR1 | c.6587A= (p.Asn2196=) c.6584A= (p.Asn2195=) c.39A= n.6670A= | |
19 | g.38496253A>C | CA405665724 | RYR1 | c.6587A>C (p.Asn2196Thr) c.6584A>C (p.Asn2195Thr) c.39A>C n.6670A>C | |
19 | g.38496253A>G | CA308104018 | RYR1 | c.6587A>G (p.Asn2196Ser) c.6584A>G (p.Asn2195Ser) c.39A>G n.6670A>G | dbSNP gnomAD v4 |
19 | g.38496253A>T | CA405665719 | RYR1 | c.6587A>T (p.Asn2196Ile) c.6584A>T (p.Asn2195Ile) c.39A>T n.6670A>T | |
19 | g.38496254C>A | CA405665727 | RYR1 | c.6588C>A (p.Asn2196Lys) c.6585C>A (p.Asn2195Lys) c.40C>A n.6671C>A | ClinVar dbSNP |
19 | g.38496254C= | CA2335051150 | RYR1 | c.6588C= (p.Asn2196=) c.6585C= (p.Asn2195=) c.40C= n.6671C= | |
19 | g.38496254C>G | CA405665730 | RYR1 | c.6588C>G (p.Asn2196Lys) c.6585C>G (p.Asn2195Lys) c.40C>G n.6671C>G | |
19 | g.38496254C>T | CA507353548 | RYR1 | c.6588C>T (p.Asn2196=) c.6585C>T (p.Asn2195=) c.40C>T n.6671C>T | dbSNP gnomAD v4 |
19 | g.38496255C>A | CA405665738 | RYR1 | c.6589C>A (p.Leu2197Met) c.6586C>A (p.Leu2196Met) c.41C>A n.6672C>A | |
19 | g.38496255C>G | CA405665741 | RYR1 | c.6589C>G (p.Leu2197Val) c.6586C>G (p.Leu2196Val) c.41C>G n.6672C>G | |
19 | g.38496255C>T | CA082106 | RYR1 | c.6589C>T (p.Leu2197=) c.6586C>T (p.Leu2196=) c.41C>T n.6672C>T | gnomAD v4 |
19 | g.38496256T>A | CA405665743 | RYR1 | c.6590T>A (p.Leu2197Gln) c.6587T>A (p.Leu2196Gln) c.42T>A n.6673T>A | |
19 | g.38496256T>C | CA405665744 | RYR1 | c.6590T>C (p.Leu2197Pro) c.6587T>C (p.Leu2196Pro) c.42T>C n.6673T>C | dbSNP |
19 | g.38496256T>G | CA405665747 | RYR1 | c.6590T>G (p.Leu2197Arg) c.6587T>G (p.Leu2196Arg) c.42T>G n.6673T>G | |
19 | g.38496256T= | CA2335051151 | RYR1 | c.6590T= (p.Leu2197=) c.6587T= (p.Leu2196=) c.42T= n.6673T= | |
19 | g.38496257G>A | CA068451 | RYR1 | c.6591G>A (p.Leu2197=) c.6588G>A (p.Leu2196=) c.43G>A n.6674G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38496257G>C | CA507353554 | RYR1 | c.6591G>C (p.Leu2197=) c.6588G>C (p.Leu2196=) c.43G>C n.6674G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496257G= | CA2335051152 | RYR1 | c.6591G= (p.Leu2197=) c.6588G= (p.Leu2196=) c.43G= n.6674G= | |
19 | g.38496257G>T | CA507353555 | RYR1 | c.6591G>T (p.Leu2197=) c.6588G>T (p.Leu2196=) c.43G>T n.6674G>T | |
19 | g.38496258A= | CA2335051153 | RYR1 | c.6592A= (p.Met2198=) c.6589A= (p.Met2197=) c.44A= n.6675A= | |
19 | g.38496258A>C | CA405665752 | RYR1 | c.6592A>C (p.Met2198Leu) c.6589A>C (p.Met2197Leu) c.44A>C n.6675A>C | dbSNP |
19 | g.38496258A>G | CA405665754 | RYR1 | c.6592A>G (p.Met2198Val) c.6589A>G (p.Met2197Val) c.44A>G n.6675A>G | |
19 | g.38496258A>T | CA405665757 | RYR1 | c.6592A>T (p.Met2198Leu) c.6589A>T (p.Met2197Leu) c.44A>T n.6675A>T | |
19 | g.38496259T>A | CA405665763 | RYR1 | c.6593T>A (p.Met2198Lys) c.6590T>A (p.Met2197Lys) c.45T>A n.6676T>A | |
19 | g.38496259T>C | CA405665762 | RYR1 | c.6593T>C (p.Met2198Thr) c.6590T>C (p.Met2197Thr) c.45T>C n.6676T>C | gnomAD v4 COSMIC |
19 | g.38496259T>G | CA405665761 | RYR1 | c.6593T>G (p.Met2198Arg) c.6590T>G (p.Met2197Arg) c.45T>G n.6676T>G | |
19 | g.38496260G>A | CA082107 | RYR1 | c.6594G>A (p.Met2198Ile) c.6591G>A (p.Met2197Ile) c.46G>A n.6677G>A | gnomAD v4 |
19 | g.38496260G>C | CA405665767 | RYR1 | c.6594G>C (p.Met2198Ile) c.6591G>C (p.Met2197Ile) c.46G>C n.6677G>C | |
19 | g.38496260G>T | CA405665770 | RYR1 | c.6594G>T (p.Met2198Ile) c.6591G>T (p.Met2197Ile) c.46G>T n.6677G>T | |
19 | g.38496261A>C | CA507353560 | RYR1 | c.6595A>C (p.Arg2199=) c.6592A>C (p.Arg2198=) c.47A>C n.6678A>C | |
19 | g.38496261A>G | CA405665772 | RYR1 | c.6595A>G (p.Arg2199Gly) c.6592A>G (p.Arg2198Gly) c.47A>G n.6678A>G | |
19 | g.38496261A>T | CA405665773 | RYR1 | c.6595A>T (p.Arg2199Trp) c.6592A>T (p.Arg2198Trp) c.47A>T n.6678A>T | |
19 | g.38496262G>A | CA405665775 | RYR1 | c.6596G>A (p.Arg2199Lys) c.6593G>A (p.Arg2198Lys) c.48G>A n.6679G>A | gnomAD v4 |
19 | g.38496262G>C | CA405665778 | RYR1 | c.6596G>C (p.Arg2199Thr) c.6593G>C (p.Arg2198Thr) c.48G>C n.6679G>C | |
19 | g.38496262G>T | CA405665780 | RYR1 | c.6596G>T (p.Arg2199Met) c.6593G>T (p.Arg2198Met) c.48G>T n.6679G>T | |
19 | g.38496263G>A | CA507353565 | RYR1 | c.6597G>A (p.Arg2199=) c.6594G>A (p.Arg2198=) c.49G>A n.6680G>A | |
19 | g.38496263G>C | CA405665781 | RYR1 | c.6597G>C (p.Arg2199Ser) c.6594G>C (p.Arg2198Ser) c.49G>C n.6680G>C | |
19 | g.38496263G>T | CA405665783 | RYR1 | c.6597G>T (p.Arg2199Ser) c.6594G>T (p.Arg2198Ser) c.49G>T n.6680G>T | |
19 | g.38496264G>A | CA068454 | RYR1 | c.6598G>A (p.Ala2200Thr) c.6595G>A (p.Ala2199Thr) c.50G>A n.6681G>A | dbSNP ExAC gnomAD v2 |
19 | g.38496264G>C | CA405665786 | RYR1 | c.6598G>C (p.Ala2200Pro) c.6595G>C (p.Ala2199Pro) c.50G>C n.6681G>C | ClinVar |
19 | g.38496264G= | CA2335051154 | RYR1 | c.6598G= (p.Ala2200=) c.6595G= (p.Ala2199=) c.50G= n.6681G= | |
19 | g.38496264G>T | CA405665790 | RYR1 | c.6598G>T (p.Ala2200Ser) c.6595G>T (p.Ala2199Ser) c.50G>T n.6681G>T | |
19 | g.38496265C>A | CA068457 | RYR1 | c.6599C>A (p.Ala2200Glu) c.6596C>A (p.Ala2199Glu) c.51C>A n.6682C>A | dbSNP ExAC gnomAD v2 |
19 | g.38496265C= | CA2335051155 | RYR1 | c.6599C= (p.Ala2200=) c.6596C= (p.Ala2199=) c.51C= n.6682C= | |
19 | g.38496265C>G | CA405665795 | RYR1 | c.6599C>G (p.Ala2200Gly) c.6596C>G (p.Ala2199Gly) c.51C>G n.6682C>G | ClinVar dbSNP gnomAD v4 |
19 | g.38496265C>T | CA024615 | RYR1 | c.6599C>T (p.Ala2200Val) c.6596C>T (p.Ala2199Val) c.51C>T n.6682C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496265dup | CA082108 | RYR1 | c.6599dup (p.Leu2201AlafsTer?) c.6596dup (p.Leu2200AlafsTer?) c.51dup n.6682dup | |
19 | g.38496266G>A | CA068464 | RYR1 | c.6600G>A (p.Ala2200=) c.6597G>A (p.Ala2199=) c.52G>A n.6683G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496266G>C | CA507353571 | RYR1 | c.6600G>C (p.Ala2200=) c.6597G>C (p.Ala2199=) c.52G>C n.6683G>C | |
19 | g.38496266G= | CA2335051156 | RYR1 | c.6600G= (p.Ala2200=) c.6597G= (p.Ala2199=) c.52G= n.6683G= | |
19 | g.38496266G>T | CA507353572 | RYR1 | c.6600G>T (p.Ala2200=) c.6597G>T (p.Ala2199=) c.52G>T n.6683G>T | gnomAD v4 |
19 | g.38496267C>A | CA405665801 | RYR1 | c.6601C>A (p.Leu2201Met) c.6598C>A (p.Leu2200Met) c.53C>A n.6684C>A | |
19 | g.38496267C>G | CA405665806 | RYR1 | c.6601C>G (p.Leu2201Val) c.6598C>G (p.Leu2200Val) c.53C>G n.6684C>G | |
19 | g.38496267C>T | CA507353575 | RYR1 | c.6601C>T (p.Leu2201=) c.6598C>T (p.Leu2200=) c.53C>T n.6684C>T | ClinVar gnomAD v4 |
19 | g.38496268T>A | CA405665808 | RYR1 | c.6602T>A (p.Leu2201Gln) c.6599T>A (p.Leu2200Gln) c.54T>A n.6685T>A | |
19 | g.38496268T>C | CA405665815 | RYR1 | c.6602T>C (p.Leu2201Pro) c.6599T>C (p.Leu2200Pro) c.54T>C n.6685T>C | |
19 | g.38496268T>G | CA405665819 | RYR1 | c.6602T>G (p.Leu2201Arg) c.6599T>G (p.Leu2200Arg) c.54T>G n.6685T>G | |
19 | g.38496269G>A | CA082139 | RYR1 | c.6603G>A (p.Leu2201=) c.6600G>A (p.Leu2200=) c.55G>A n.6686G>A | ClinVar |
19 | g.38496269G>C | CA507353580 | RYR1 | c.6603G>C (p.Leu2201=) c.6600G>C (p.Leu2200=) c.55G>C n.6686G>C | |
19 | g.38496269G>T | CA507353581 | RYR1 | c.6603G>T (p.Leu2201=) c.6600G>T (p.Leu2200=) c.55G>T n.6686G>T | |
19 | g.38496270G>A | CA405665827 | RYR1 | c.6604G>A (p.Gly2202Ser) c.6601G>A (p.Gly2201Ser) c.56G>A n.6687G>A | |
19 | g.38496270G>C | CA405665822 | RYR1 | c.6604G>C (p.Gly2202Arg) c.6601G>C (p.Gly2201Arg) c.56G>C n.6687G>C | |
19 | g.38496270G>T | CA405665825 | RYR1 | c.6604G>T (p.Gly2202Cys) c.6601G>T (p.Gly2201Cys) c.56G>T n.6687G>T | |
19 | g.38496271G>A | CA405665831 | RYR1 | c.6605G>A (p.Gly2202Asp) c.6602G>A (p.Gly2201Asp) c.57G>A n.6688G>A | |
19 | g.38496271G>C | CA405665833 | RYR1 | c.6605G>C (p.Gly2202Ala) c.6602G>C (p.Gly2201Ala) c.57G>C n.6688G>C | |
19 | g.38496271G>T | CA405665836 | RYR1 | c.6605G>T (p.Gly2202Val) c.6602G>T (p.Gly2201Val) c.57G>T n.6688G>T | |
19 | g.38496272C>A | CA507353588 | RYR1 | c.6606C>A (p.Gly2202=) c.6603C>A (p.Gly2201=) c.58C>A n.6689C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38496272C= | CA2335051157 | RYR1 | c.6606C= (p.Gly2202=) c.6603C= (p.Gly2201=) c.58C= n.6689C= | |
19 | g.38496272C>G | CA507353589 | RYR1 | c.6606C>G (p.Gly2202=) c.6603C>G (p.Gly2201=) c.58C>G n.6689C>G | |
19 | g.38496272C>T | CA507353590 | RYR1 | c.6606C>T (p.Gly2202=) c.6603C>T (p.Gly2201=) c.58C>T n.6689C>T | |
19 | g.38496273A= | CA2335051158 | RYR1 | c.6607A= (p.Met2203=) c.6604A= (p.Met2202=) c.59A= n.6690A= | |
19 | g.38496273A>C | CA405665841 | RYR1 | c.6607A>C (p.Met2203Leu) c.6604A>C (p.Met2202Leu) c.59A>C n.6690A>C | |
19 | g.38496273A>G | CA212055 | RYR1 | c.6607A>G (p.Met2203Val) c.6604A>G (p.Met2202Val) c.59A>G n.6690A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496273A>T | CA405665843 | RYR1 | c.6607A>T (p.Met2203Leu) c.6604A>T (p.Met2202Leu) c.59A>T n.6690A>T | |
19 | g.38496274T>A | CA405665846 | RYR1 | c.6608T>A (p.Met2203Lys) c.6605T>A (p.Met2202Lys) c.60T>A n.6691T>A | |
19 | g.38496274T>C | CA405665852 | RYR1 | c.6608T>C (p.Met2203Thr) c.6605T>C (p.Met2202Thr) c.60T>C n.6691T>C | ClinVar gnomAD v4 |
19 | g.38496274T>G | CA405665849 | RYR1 | c.6608T>G (p.Met2203Arg) c.6605T>G (p.Met2202Arg) c.60T>G n.6691T>G | |
19 | g.38496275G>A | CA405665856 | RYR1 | c.6609G>A (p.Met2203Ile) c.6606G>A (p.Met2202Ile) c.61G>A n.6692G>A | dbSNP gnomAD v4 |
19 | g.38496275G>C | CA405665857 | RYR1 | c.6609G>C (p.Met2203Ile) c.6606G>C (p.Met2202Ile) c.61G>C n.6692G>C | |
19 | g.38496275G= | CA2335051159 | RYR1 | c.6609G= (p.Met2203=) c.6606G= (p.Met2202=) c.61G= n.6692G= | |
19 | g.38496275G>T | CA405665862 | RYR1 | c.6609G>T (p.Met2203Ile) c.6606G>T (p.Met2202Ile) c.61G>T n.6692G>T | |
19 | g.38496276C>A | CA405665865 | RYR1 | c.6610C>A (p.His2204Asn) c.6607C>A (p.His2203Asn) c.62C>A n.6693C>A | |
19 | g.38496276C= | CA2335051160 | RYR1 | c.6610C= (p.His2204=) c.6607C= (p.His2203=) c.62C= n.6693C= | |
19 | g.38496276C>G | CA405665867 | RYR1 | c.6610C>G (p.His2204Asp) c.6607C>G (p.His2203Asp) c.62C>G n.6693C>G | |
19 | g.38496276C>T | CA308104063 | RYR1 | c.6610C>T (p.His2204Tyr) c.6607C>T (p.His2203Tyr) c.62C>T n.6693C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38496277A= | CA2335051161 | RYR1 | c.6611A= (p.His2204=) c.6608A= (p.His2203=) c.63A= n.6694A= | |
19 | g.38496277A>C | CA405665872 | RYR1 | c.6611A>C (p.His2204Pro) c.6608A>C (p.His2203Pro) c.63A>C n.6694A>C | |
19 | g.38496277A>G | CA405665875 | RYR1 | c.6611A>G (p.His2204Arg) c.6608A>G (p.His2203Arg) c.63A>G n.6694A>G | ClinVar dbSNP |
19 | g.38496277A>T | CA405665881 | RYR1 | c.6611A>T (p.His2204Leu) c.6608A>T (p.His2203Leu) c.63A>T n.6694A>T | |
19 | g.38496278C>A | CA405665883 | RYR1 | c.6612C>A (p.His2204Gln) c.6609C>A (p.His2203Gln) c.64C>A n.6695C>A | |
19 | g.38496278C= | CA2335051162 | RYR1 | c.6612C= (p.His2204=) c.6609C= (p.His2203=) c.64C= n.6695C= | |
19 | g.38496278C>G | CA024617 | RYR1 | c.6612C>G (p.His2204Gln) c.6609C>G (p.His2203Gln) c.64C>G n.6695C>G | ClinVar dbSNP gnomAD v4 |
19 | g.38496278C>T | CA068469 | RYR1 | c.6612C>T (p.His2204=) c.6609C>T (p.His2203=) c.64C>T n.6695C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496279G>A | CA068473 | RYR1 | c.6613G>A (p.Glu2205Lys) c.6610G>A (p.Glu2204Lys) c.65G>A n.6696G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38496279G>C | CA068477 | RYR1 | c.6613G>C (p.Glu2205Gln) c.6610G>C (p.Glu2204Gln) c.65G>C n.6696G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38496279G= | CA2335051163 | RYR1 | c.6613G= (p.Glu2205=) c.6610G= (p.Glu2204=) c.65G= n.6696G= | |
19 | g.38496279G>T | CA405665890 | RYR1 | c.6613G>T (p.Glu2205Ter) c.6610G>T (p.Glu2204Ter) c.65G>T n.6696G>T | |
19 | g.38496280A>C | CA405665895 | RYR1 | c.6614A>C (p.Glu2205Ala) c.6611A>C (p.Glu2204Ala) c.66A>C n.6697A>C | |
19 | g.38496280A>G | CA405665898 | RYR1 | c.6614A>G (p.Glu2205Gly) c.6611A>G (p.Glu2204Gly) c.66A>G n.6697A>G | |
19 | g.38496280A>T | CA405665900 | RYR1 | c.6614A>T (p.Glu2205Val) c.6611A>T (p.Glu2204Val) c.66A>T n.6697A>T | |
19 | g.38496281G>A | CA068478 | RYR1 | c.6615G>A (p.Glu2205=) c.6612G>A (p.Glu2204=) c.67G>A n.6698G>A | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.38496281G>C | CA405665903 | RYR1 | c.6615G>C (p.Glu2205Asp) c.6612G>C (p.Glu2204Asp) c.67G>C n.6698G>C | ClinVar |
19 | g.38496281G= | CA2335051164 | RYR1 | c.6615G= (p.Glu2205=) c.6612G= (p.Glu2204=) c.67G= n.6698G= | |
19 | g.38496281G>T | CA405665906 | RYR1 | c.6615G>T (p.Glu2205Asp) c.6612G>T (p.Glu2204Asp) c.67G>T n.6698G>T | |
19 | g.38496282A>C | CA405665909 | RYR1 | c.6616A>C (p.Thr2206Pro) c.6613A>C (p.Thr2205Pro) c.68A>C n.6699A>C | |
19 | g.38496282A>G | CA405665912 | RYR1 | c.6616A>G (p.Thr2206Ala) c.6613A>G (p.Thr2205Ala) c.68A>G n.6699A>G | |
19 | g.38496282A>T | CA405665914 | RYR1 | c.6616A>T (p.Thr2206Ser) c.6613A>T (p.Thr2205Ser) c.68A>T n.6699A>T | |
19 | g.38496283C>A | CA405665917 | RYR1 | c.6617C>A (p.Thr2206Lys) c.6614C>A (p.Thr2205Lys) c.69C>A n.6700C>A | |
19 | g.38496283C= | CA2335051165 | RYR1 | c.6617C= (p.Thr2206=) c.6614C= (p.Thr2205=) c.69C= n.6700C= | |
19 | g.38496283C>G | CA024620 | RYR1 | c.6617C>G (p.Thr2206Arg) c.6614C>G (p.Thr2205Arg) c.69C>G n.6700C>G | ClinVar dbSNP |
19 | g.38496283C>T | CA024622 | RYR1 | c.6617C>T (p.Thr2206Met) c.6614C>T (p.Thr2205Met) c.69C>T n.6700C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496284G>A | CA068486 | RYR1 | c.6618G>A (p.Thr2206=) c.6615G>A (p.Thr2205=) c.70G>A n.6701G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496284G>C | CA507353611 | RYR1 | c.6618G>C (p.Thr2206=) c.6615G>C (p.Thr2205=) c.70G>C n.6701G>C | |
19 | g.38496284G= | CA2335051166 | RYR1 | c.6618G= (p.Thr2206=) c.6615G= (p.Thr2205=) c.70G= n.6701G= | |
19 | g.38496284G>T | CA507353612 | RYR1 | c.6618G>T (p.Thr2206=) c.6615G>T (p.Thr2205=) c.70G>T n.6701G>T | |
19 | g.38496285del | CA2573054754 | RYR1 | c.6619del (p.Val2207SerfsTer23) c.6616del (p.Val2206SerfsTer23) c.71del n.6702del | ClinVar dbSNP |
19 | g.38496285G>A | CA405665925 | RYR1 | c.6619G>A (p.Val2207Ile) c.6616G>A (p.Val2206Ile) c.71G>A n.6702G>A | |
19 | g.38496285G>C | CA405665921 | RYR1 | c.6619G>C (p.Val2207Leu) c.6616G>C (p.Val2206Leu) c.71G>C n.6702G>C | |
19 | g.38496285G>T | CA405665922 | RYR1 | c.6619G>T (p.Val2207Phe) c.6616G>T (p.Val2206Phe) c.71G>T n.6702G>T | |
19 | g.38496286T>A | CA405665927 | RYR1 | c.6620T>A (p.Val2207Asp) c.6617T>A (p.Val2206Asp) c.72T>A n.6703T>A | |
19 | g.38496286T>C | CA405665930 | RYR1 | c.6620T>C (p.Val2207Ala) c.6617T>C (p.Val2206Ala) c.72T>C n.6703T>C | |
19 | g.38496286T>G | CA405665931 | RYR1 | c.6620T>G (p.Val2207Gly) c.6617T>G (p.Val2206Gly) c.72T>G n.6703T>G | |
19 | g.38496287C>A | CA507353614 | RYR1 | c.6621C>A (p.Val2207=) c.6618C>A (p.Val2206=) c.73C>A n.6704C>A | |
19 | g.38496287C>G | CA507353616 | RYR1 | c.6621C>G (p.Val2207=) c.6618C>G (p.Val2206=) c.73C>G n.6704C>G | |
19 | g.38496287C>T | CA507353615 | RYR1 | c.6621C>T (p.Val2207=) c.6618C>T (p.Val2206=) c.73C>T n.6704C>T | |
19 | g.38496288A= | CA2335051167 | RYR1 | c.6622A= (p.Met2208=) c.6619A= (p.Met2207=) c.74A= n.6705A= | |
19 | g.38496288A>C | CA405665934 | RYR1 | c.6622A>C (p.Met2208Leu) c.6619A>C (p.Met2207Leu) c.74A>C n.6705A>C | |
19 | g.38496288A>G | CA405665936 | RYR1 | c.6622A>G (p.Met2208Val) c.6619A>G (p.Met2207Val) c.74A>G n.6705A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496288A>T | CA405665938 | RYR1 | c.6622A>T (p.Met2208Leu) c.6619A>T (p.Met2207Leu) c.74A>T n.6705A>T | |
19 | g.38496289T>A | CA405665941 | RYR1 | c.6623T>A (p.Met2208Lys) c.6620T>A (p.Met2207Lys) c.75T>A n.6706T>A | |
19 | g.38496289T>C | CA405665942 | RYR1 | c.6623T>C (p.Met2208Thr) c.6620T>C (p.Met2207Thr) c.75T>C n.6706T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38496289T>G | CA405665944 | RYR1 | c.6623T>G (p.Met2208Arg) c.6620T>G (p.Met2207Arg) c.75T>G n.6706T>G | |
19 | g.38496289T= | CA2335051168 | RYR1 | c.6623T= (p.Met2208=) c.6620T= (p.Met2207=) c.75T= n.6706T= | |
19 | g.38496290G>A | CA405665946 | RYR1 | c.6624G>A (p.Met2208Ile) c.6621G>A (p.Met2207Ile) c.76G>A n.6707G>A | gnomAD v4 |
19 | g.38496290G>C | CA405665949 | RYR1 | c.6624G>C (p.Met2208Ile) c.6621G>C (p.Met2207Ile) c.76G>C n.6707G>C | |
19 | g.38496290G>T | CA405665950 | RYR1 | c.6624G>T (p.Met2208Ile) c.6621G>T (p.Met2207Ile) c.76G>T n.6707G>T | |
19 | g.38496291G>A | CA405665953 | RYR1 | c.6625G>A (p.Glu2209Lys) c.6622G>A (p.Glu2208Lys) c.77G>A n.6708G>A | |
19 | g.38496291G>C | CA405665958 | RYR1 | c.6625G>C (p.Glu2209Gln) c.6622G>C (p.Glu2208Gln) c.77G>C n.6708G>C | |
19 | g.38496291G>T | CA405665955 | RYR1 | c.6625G>T (p.Glu2209Ter) c.6622G>T (p.Glu2208Ter) c.77G>T n.6708G>T | |
19 | g.38496292A>C | CA405665960 | RYR1 | c.6626A>C (p.Glu2209Ala) c.6623A>C (p.Glu2208Ala) c.78A>C n.6709A>C | |
19 | g.38496292A>G | CA405665964 | RYR1 | c.6626A>G (p.Glu2209Gly) c.6623A>G (p.Glu2208Gly) c.78A>G n.6709A>G | |
19 | g.38496292A>T | CA405665962 | RYR1 | c.6626A>T (p.Glu2209Val) c.6623A>T (p.Glu2208Val) c.78A>T n.6709A>T | |
19 | g.38496293G>A | CA068489 | RYR1 | c.6627G>A (p.Glu2209=) c.6624G>A (p.Glu2208=) c.79G>A n.6710G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38496293G>C | CA405665968 | RYR1 | c.6627G>C (p.Glu2209Asp) c.6624G>C (p.Glu2208Asp) c.79G>C n.6710G>C | |
19 | g.38496293G= | CA2335051169 | RYR1 | c.6627G= (p.Glu2209=) c.6624G= (p.Glu2208=) c.79G= n.6710G= | |
19 | g.38496293G>T | CA405665969 | RYR1 | c.6627G>T (p.Glu2209Asp) c.6624G>T (p.Glu2208Asp) c.79G>T n.6710G>T | |
19 | g.38496294G>A | CA405665972 | RYR1 | c.6628G>A (p.Val2210Ile) c.6625G>A (p.Val2209Ile) c.80G>A n.6711G>A | ClinVar gnomAD v4 |
19 | g.38496294G>C | CA405665975 | RYR1 | c.6628G>C (p.Val2210Leu) c.6625G>C (p.Val2209Leu) c.80G>C n.6711G>C | ClinVar dbSNP gnomAD v4 |
19 | g.38496294G= | CA2335051170 | RYR1 | c.6628G= (p.Val2210=) c.6625G= (p.Val2209=) c.80G= n.6711G= | |
19 | g.38496294G>T | CA024625 | RYR1 | c.6628G>T (p.Val2210Phe) c.6625G>T (p.Val2209Phe) c.80G>T n.6711G>T | ClinVar dbSNP |
19 | g.38496295T>A | CA405665984 | RYR1 | c.6629T>A (p.Val2210Asp) c.6626T>A (p.Val2209Asp) c.81T>A n.6712T>A | ClinVar dbSNP |
19 | g.38496295T>C | CA405665986 | RYR1 | c.6629T>C (p.Val2210Ala) c.6626T>C (p.Val2209Ala) c.81T>C n.6712T>C | |
19 | g.38496295T>G | CA405665989 | RYR1 | c.6629T>G (p.Val2210Gly) c.6626T>G (p.Val2209Gly) c.81T>G n.6712T>G | |
19 | g.38496295T= | CA2335051171 | RYR1 | c.6629T= (p.Val2210=) c.6626T= (p.Val2209=) c.81T= n.6712T= | |
19 | g.38496296C>A | CA507353621 | RYR1 | c.6630C>A (p.Val2210=) c.6627C>A (p.Val2209=) c.82C>A n.6713C>A | |
19 | g.38496296C>G | CA507353622 | RYR1 | c.6630C>G (p.Val2210=) c.6627C>G (p.Val2209=) c.82C>G n.6713C>G | |
19 | g.38496296C>T | CA507353624 | RYR1 | c.6630C>T (p.Val2210=) c.6627C>T (p.Val2209=) c.82C>T n.6713C>T | |
19 | g.38496297A= | CA2335051172 | RYR1 | c.6631A= (p.Met2211=) c.6628A= (p.Met2210=) c.83A= n.6714A= | |
19 | g.38496297A>C | CA405665993 | RYR1 | c.6631A>C (p.Met2211Leu) c.6628A>C (p.Met2210Leu) c.83A>C n.6714A>C | ClinVar dbSNP |
19 | g.38496297A>G | CA405665994 | RYR1 | c.6631A>G (p.Met2211Val) c.6628A>G (p.Met2210Val) c.83A>G n.6714A>G | |
19 | g.38496297A>T | CA405665996 | RYR1 | c.6631A>T (p.Met2211Leu) c.6628A>T (p.Met2210Leu) c.83A>T n.6714A>T | |
19 | g.38496298T>A | CA405666000 | RYR1 | c.6632T>A (p.Met2211Lys) c.6629T>A (p.Met2210Lys) c.84T>A n.6715T>A | |
19 | g.38496298T>C | CA405666004 | RYR1 | c.6632T>C (p.Met2211Thr) c.6629T>C (p.Met2210Thr) c.84T>C n.6715T>C | gnomAD v4 |
19 | g.38496298T>G | CA405666002 | RYR1 | c.6632T>G (p.Met2211Arg) c.6629T>G (p.Met2210Arg) c.84T>G n.6715T>G | |
19 | g.38496299G>A | CA405666008 | RYR1 | c.6633G>A (p.Met2211Ile) c.6630G>A (p.Met2210Ile) c.85G>A n.6716G>A | |
19 | g.38496299G>C | CA405666010 | RYR1 | c.6633G>C (p.Met2211Ile) c.6630G>C (p.Met2210Ile) c.85G>C n.6716G>C | |
19 | g.38496299G>T | CA405666013 | RYR1 | c.6633G>T (p.Met2211Ile) c.6630G>T (p.Met2210Ile) c.85G>T n.6716G>T | |
19 | g.38496300dup | CA2839137451 | RYR1 | c.6634dup (p.Val2212GlyfsTer?) c.6631dup (p.Val2211GlyfsTer?) c.86dup n.6717dup | |
19 | g.38496300G>A | CA405666016 | RYR1 | c.6634G>A (p.Val2212Ile) c.6631G>A (p.Val2211Ile) c.86G>A n.6717G>A | |
19 | g.38496300G>C | CA405666019 | RYR1 | c.6634G>C (p.Val2212Leu) c.6631G>C (p.Val2211Leu) c.86G>C n.6717G>C | |
19 | g.38496300G>T | CA405666021 | RYR1 | c.6634G>T (p.Val2212Phe) c.6631G>T (p.Val2211Phe) c.86G>T n.6717G>T | |
19 | g.38496301T>A | CA024628 | RYR1 | c.6635T>A (p.Val2212Asp) c.6632T>A (p.Val2211Asp) c.87T>A n.6718T>A | ClinVar dbSNP |
19 | g.38496301T>C | CA024631 | RYR1 | c.6635T>C (p.Val2212Ala) c.6632T>C (p.Val2211Ala) c.87T>C n.6718T>C | ClinVar dbSNP |
19 | g.38496301T>G | CA405666028 | RYR1 | c.6635T>G (p.Val2212Gly) c.6632T>G (p.Val2211Gly) c.87T>G n.6718T>G | |
19 | g.38496301T= | CA2335051173 | RYR1 | c.6635T= (p.Val2212=) c.6632T= (p.Val2211=) c.87T= n.6718T= | |
19 | g.38496302C>A | CA068495 | RYR1 | c.6636C>A (p.Val2212=) c.6633C>A (p.Val2211=) c.88C>A n.6719C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38496302C= | CA2335051174 | RYR1 | c.6636C= (p.Val2212=) c.6633C= (p.Val2211=) c.88C= n.6719C= | |
19 | g.38496302C>G | CA507353631 | RYR1 | c.6636C>G (p.Val2212=) c.6633C>G (p.Val2211=) c.88C>G n.6719C>G | |
19 | g.38496302C>T | CA507353630 | RYR1 | c.6636C>T (p.Val2212=) c.6633C>T (p.Val2211=) c.88C>T n.6719C>T | |
19 | g.38496303A>C | CA405666040 | RYR1 | c.6637A>C (p.Asn2213His) c.6634A>C (p.Asn2212His) c.89A>C n.6720A>C | |
19 | g.38496303A>G | CA405666041 | RYR1 | c.6637A>G (p.Asn2213Asp) c.6634A>G (p.Asn2212Asp) c.89A>G n.6720A>G | COSMIC |
19 | g.38496303A>T | CA405666038 | RYR1 | c.6637A>T (p.Asn2213Tyr) c.6634A>T (p.Asn2212Tyr) c.89A>T n.6720A>T | |
19 | g.38496304A>C | CA405666044 | RYR1 | c.6638A>C (p.Asn2213Thr) c.6635A>C (p.Asn2212Thr) c.90A>C n.6721A>C | |
19 | g.38496304A>G | CA405666046 | RYR1 | c.6638A>G (p.Asn2213Ser) c.6635A>G (p.Asn2212Ser) c.90A>G n.6721A>G | gnomAD v4 |
19 | g.38496304A>T | CA405666048 | RYR1 | c.6638A>T (p.Asn2213Ile) c.6635A>T (p.Asn2212Ile) c.90A>T n.6721A>T | COSMIC |
19 | g.38496305C>A | CA082146 | RYR1 | c.6639C>A (p.Asn2213Lys) c.6636C>A (p.Asn2212Lys) c.91C>A n.6722C>A | COSMIC |
19 | g.38496305C= | CA2335051175 | RYR1 | c.6639C= (p.Asn2213=) c.6636C= (p.Asn2212=) c.91C= n.6722C= | |
19 | g.38496305C>G | CA405666051 | RYR1 | c.6639C>G (p.Asn2213Lys) c.6636C>G (p.Asn2212Lys) c.91C>G n.6722C>G | |
19 | g.38496305C>T | CA068499 | RYR1 | c.6639C>T (p.Asn2213=) c.6636C>T (p.Asn2212=) c.91C>T n.6722C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496306G>A | CA024634 | RYR1 | c.6640G>A (p.Val2214Ile) c.6637G>A (p.Val2213Ile) c.92G>A n.6723G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496306G>C | CA405666057 | RYR1 | c.6640G>C (p.Val2214Leu) c.6637G>C (p.Val2213Leu) c.92G>C n.6723G>C | COSMIC |
19 | g.38496306G= | CA2335051176 | RYR1 | c.6640G= (p.Val2214=) c.6637G= (p.Val2213=) c.92G= n.6723G= | |
19 | g.38496306G>T | CA405666060 | RYR1 | c.6640G>T (p.Val2214Phe) c.6637G>T (p.Val2213Phe) c.92G>T n.6723G>T | |
19 | g.38496307T>A | CA405666062 | RYR1 | c.6641T>A (p.Val2214Asp) c.6638T>A (p.Val2213Asp) c.93T>A n.6724T>A | |
19 | g.38496307T>C | CA405666065 | RYR1 | c.6641T>C (p.Val2214Ala) c.6638T>C (p.Val2213Ala) c.93T>C n.6724T>C | |
19 | g.38496307T>G | CA405666067 | RYR1 | c.6641T>G (p.Val2214Gly) c.6638T>G (p.Val2213Gly) c.93T>G n.6724T>G | |
19 | g.38496308C>A | CA507353551 | RYR1 | c.6642C>A (p.Val2214=) c.6639C>A (p.Val2213=) c.94C>A n.6725C>A | gnomAD v4 |
19 | g.38496308C= | CA2335051177 | RYR1 | c.6642C= (p.Val2214=) c.6639C= (p.Val2213=) c.94C= n.6725C= | |
19 | g.38496308C>G | CA507353552 | RYR1 | c.6642C>G (p.Val2214=) c.6639C>G (p.Val2213=) c.94C>G n.6725C>G | ClinVar |
19 | g.38496308C>T | CA082147 | RYR1 | c.6642C>T (p.Val2214=) c.6639C>T (p.Val2213=) c.94C>T n.6725C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496309C>A | CA405666072 | RYR1 | c.6643C>A (p.Leu2215Ile) c.6640C>A (p.Leu2214Ile) c.95C>A n.6726C>A | |
19 | g.38496309C>G | CA405666074 | RYR1 | c.6643C>G (p.Leu2215Val) c.6640C>G (p.Leu2214Val) c.95C>G n.6726C>G | |
19 | g.38496309C>T | CA405666070 | RYR1 | c.6643C>T (p.Leu2215Phe) c.6640C>T (p.Leu2214Phe) c.95C>T n.6726C>T | |
19 | g.38496310T>A | CA405666077 | RYR1 | c.6644T>A (p.Leu2215His) c.6641T>A (p.Leu2214His) c.96T>A n.6727T>A | |
19 | g.38496310T>C | CA405666080 | RYR1 | c.6644T>C (p.Leu2215Pro) c.6641T>C (p.Leu2214Pro) c.96T>C n.6727T>C | |
19 | g.38496310T>G | CA405666081 | RYR1 | c.6644T>G (p.Leu2215Arg) c.6641T>G (p.Leu2214Arg) c.96T>G n.6727T>G | |
19 | g.38496310dup | CA2838437020 | RYR1 | c.6644dup (p.Gly2216ArgfsTer?) c.6641dup (p.Gly2215ArgfsTer?) c.96dup n.6727dup | |
19 | g.38496311C>A | CA507353557 | RYR1 | c.6645C>A (p.Leu2215=) c.6642C>A (p.Leu2214=) c.97C>A n.6728C>A | |
19 | g.38496311C= | CA2335051178 | RYR1 | c.6645C= (p.Leu2215=) c.6642C= (p.Leu2214=) c.97C= n.6728C= | |
19 | g.38496311C>G | CA507353559 | RYR1 | c.6645C>G (p.Leu2215=) c.6642C>G (p.Leu2214=) c.97C>G n.6728C>G | |
19 | g.38496311C>T | CA024637 | RYR1 | c.6645C>T (p.Leu2215=) c.6642C>T (p.Leu2214=) c.97C>T n.6728C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496312G>A | CA405666089 | RYR1 | c.6646G>A (p.Gly2216Arg) c.6643G>A (p.Gly2215Arg) c.98G>A n.6729G>A | |
19 | g.38496312G>C | CA405666087 | RYR1 | c.6646G>C (p.Gly2216Arg) c.6643G>C (p.Gly2215Arg) c.98G>C n.6729G>C | |
19 | g.38496312G>T | CA405666086 | RYR1 | c.6646G>T (p.Gly2216Trp) c.6643G>T (p.Gly2215Trp) c.98G>T n.6729G>T | |
19 | g.38496316dup | CA2584899554 | RYR1 | c.6650dup (p.Gly2218ArgfsTer?) c.6647dup (p.Gly2217ArgfsTer?) c.102dup n.6733dup | gnomAD v4 |
19 | g.38496313G>A | CA405666091 | RYR1 | c.6647G>A (p.Gly2216Glu) c.6644G>A (p.Gly2215Glu) c.99G>A n.6730G>A | |
19 | g.38496313G>C | CA405666093 | RYR1 | c.6647G>C (p.Gly2216Ala) c.6644G>C (p.Gly2215Ala) c.99G>C n.6730G>C | |
19 | g.38496313G>T | CA405666095 | RYR1 | c.6647G>T (p.Gly2216Val) c.6644G>T (p.Gly2215Val) c.99G>T n.6730G>T | |
19 | g.38496314G>A | CA507353564 | RYR1 | c.6648G>A (p.Gly2216=) c.6645G>A (p.Gly2215=) c.100G>A n.6731G>A | dbSNP gnomAD v4 |
19 | g.38496314G>C | CA507353566 | RYR1 | c.6648G>C (p.Gly2216=) c.6645G>C (p.Gly2215=) c.100G>C n.6731G>C | |
19 | g.38496314G>T | CA507353567 | RYR1 | c.6648G>T (p.Gly2216=) c.6645G>T (p.Gly2215=) c.100G>T n.6731G>T | |
19 | g.38496315G>A | CA405666099 | RYR1 | c.6649G>A (p.Gly2217Ser) c.6646G>A (p.Gly2216Ser) c.101G>A n.6732G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38496315G>C | CA405666102 | RYR1 | c.6649G>C (p.Gly2217Arg) c.6646G>C (p.Gly2216Arg) c.101G>C n.6732G>C | |
19 | g.38496315G= | CA2335051179 | RYR1 | c.6649G= (p.Gly2217=) c.6646G= (p.Gly2216=) c.101G= n.6732G= | |
19 | g.38496315G>T | CA405666104 | RYR1 | c.6649G>T (p.Gly2217Cys) c.6646G>T (p.Gly2216Cys) c.101G>T n.6732G>T | |
19 | g.38496316G>A | CA405666112 | RYR1 | c.6650G>A (p.Gly2217Asp) c.6647G>A (p.Gly2216Asp) c.102G>A n.6733G>A | ClinVar gnomAD v4 |
19 | g.38496316G>C | CA405666109 | RYR1 | c.6650G>C (p.Gly2217Ala) c.6647G>C (p.Gly2216Ala) c.102G>C n.6733G>C | |
19 | g.38496316G>T | CA405666108 | RYR1 | c.6650G>T (p.Gly2217Val) c.6647G>T (p.Gly2216Val) c.102G>T n.6733G>T | |
19 | g.38496317C>A | CA507353569 | RYR1 | c.6651C>A (p.Gly2217=) c.6648C>A (p.Gly2216=) c.103C>A n.6734C>A | gnomAD v3 gnomAD v4 |
19 | g.38496317C= | CA2335051180 | RYR1 | c.6651C= (p.Gly2217=) c.6648C= (p.Gly2216=) c.103C= n.6734C= | |
19 | g.38496317C>G | CA507353570 | RYR1 | c.6651C>G (p.Gly2217=) c.6648C>G (p.Gly2216=) c.103C>G n.6734C>G | |
19 | g.38496317C>T | CA068509 | RYR1 | c.6651C>T (p.Gly2217=) c.6648C>T (p.Gly2216=) c.103C>T n.6734C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38496318G>A | CA068513 | RYR1 | c.6652G>A (p.Gly2218Ser) c.6649G>A (p.Gly2217Ser) c.104G>A n.6735G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38496318G>C | CA405666115 | RYR1 | c.6652G>C (p.Gly2218Arg) c.6649G>C (p.Gly2217Arg) c.104G>C n.6735G>C | |
19 | g.38496318G= | CA2335051181 | RYR1 | c.6652G= (p.Gly2218=) c.6649G= (p.Gly2217=) c.104G= n.6735G= | |
19 | g.38496318G>T | CA405666119 | RYR1 | c.6652G>T (p.Gly2218Cys) c.6649G>T (p.Gly2217Cys) c.104G>T n.6735G>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.38496319G>A | CA405666120 | RYR1 | c.6653G>A (p.Gly2218Asp) c.6650G>A (p.Gly2217Asp) c.105G>A n.6736G>A | dbSNP gnomAD v4 |
19 | g.38496319G>C | CA405666122 | RYR1 | c.6653G>C (p.Gly2218Ala) c.6650G>C (p.Gly2217Ala) c.105G>C n.6736G>C | |
19 | g.38496319G= | CA2335051182 | RYR1 | c.6653G= (p.Gly2218=) c.6650G= (p.Gly2217=) c.105G= n.6736G= | |
19 | g.38496319G>T | CA405666121 | RYR1 | c.6653G>T (p.Gly2218Val) c.6650G>T (p.Gly2217Val) c.105G>T n.6736G>T | |
19 | g.38496320C>A | CA507353582 | RYR1 | c.6654C>A (p.Gly2218=) c.6651C>A (p.Gly2217=) c.106C>A n.6737C>A | |
19 | g.38496320C= | CA2335051183 | RYR1 | c.6654C= (p.Gly2218=) c.6651C= (p.Gly2217=) c.106C= n.6737C= | |
19 | g.38496320C>G | CA507353583 | RYR1 | c.6654C>G (p.Gly2218=) c.6651C>G (p.Gly2217=) c.106C>G n.6737C>G | |
19 | g.38496320C>T | CA068516 | RYR1 | c.6654C>T (p.Gly2218=) c.6651C>T (p.Gly2217=) c.106C>T n.6737C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496321G>A | CA068520 | RYR1 | c.6655G>A (p.Glu2219Lys) c.6652G>A (p.Glu2218Lys) c.107G>A n.6738G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496321G>C | CA405666123 | RYR1 | c.6655G>C (p.Glu2219Gln) c.6652G>C (p.Glu2218Gln) c.107G>C n.6738G>C | |
19 | g.38496321G= | CA2335051184 | RYR1 | c.6655G= (p.Glu2219=) c.6652G= (p.Glu2218=) c.107G= n.6738G= | |
19 | g.38496321G>T | CA405666124 | RYR1 | c.6655G>T (p.Glu2219Ter) c.6652G>T (p.Glu2218Ter) c.107G>T n.6738G>T | ClinVar |
19 | g.38496322A>C | CA405666125 | RYR1 | c.6656A>C (p.Glu2219Ala) c.6653A>C (p.Glu2218Ala) c.108A>C n.6739A>C | ClinVar |
19 | g.38496322A>G | CA405666126 | RYR1 | c.6656A>G (p.Glu2219Gly) c.6653A>G (p.Glu2218Gly) c.108A>G n.6739A>G | |
19 | g.38496322A>T | CA405666127 | RYR1 | c.6656A>T (p.Glu2219Val) c.6653A>T (p.Glu2218Val) c.108A>T n.6739A>T | |
19 | g.38496323G>A | CA068522 | RYR1 | c.6657G>A (p.Glu2219=) c.6654G>A (p.Glu2218=) c.109G>A n.6740G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38496323G>C | CA405666128 | RYR1 | c.6657G>C (p.Glu2219Asp) c.6654G>C (p.Glu2218Asp) c.109G>C n.6740G>C | gnomAD v4 |
19 | g.38496323G= | CA2335051185 | RYR1 | c.6657G= (p.Glu2219=) c.6654G= (p.Glu2218=) c.109G= n.6740G= | |
19 | g.38496323G>T | CA405666129 | RYR1 | c.6657G>T (p.Glu2219Asp) c.6654G>T (p.Glu2218Asp) c.109G>T n.6740G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38496324T>A | CA405666132 | RYR1 | c.6658T>A (p.Ser2220Thr) c.6655T>A (p.Ser2219Thr) c.110T>A n.6741T>A | |
19 | g.38496324T>C | CA405666131 | RYR1 | c.6658T>C (p.Ser2220Pro) c.6655T>C (p.Ser2219Pro) c.110T>C n.6741T>C | |
19 | g.38496324T>G | CA405666130 | RYR1 | c.6658T>G (p.Ser2220Ala) c.6655T>G (p.Ser2219Ala) c.110T>G n.6741T>G | |
19 | g.38496325C>A | CA405666133 | RYR1 | c.6659C>A (p.Ser2220Tyr) c.6656C>A (p.Ser2219Tyr) c.111C>A n.6742C>A | |
19 | g.38496325C>G | CA405666134 | RYR1 | c.6659C>G (p.Ser2220Cys) c.6656C>G (p.Ser2219Cys) c.111C>G n.6742C>G | |
19 | g.38496325C>T | CA405666135 | RYR1 | c.6659C>T (p.Ser2220Phe) c.6656C>T (p.Ser2219Phe) c.111C>T n.6742C>T | |
19 | g.38496326C>A | CA507353599 | RYR1 | c.6660C>A (p.Ser2220=) c.6657C>A (p.Ser2219=) c.112C>A n.6743C>A | |
19 | g.38496326C>G | CA507353601 | RYR1 | c.6660C>G (p.Ser2220=) c.6657C>G (p.Ser2219=) c.112C>G n.6743C>G | |
19 | g.38496326C>T | CA507353598 | RYR1 | c.6660C>T (p.Ser2220=) c.6657C>T (p.Ser2219=) c.112C>T n.6743C>T | |
19 | g.38496327A>C | CA405666136 | RYR1 | c.6661A>C (p.Lys2221Gln) c.6658A>C (p.Lys2220Gln) c.113A>C n.6744A>C | |
19 | g.38496327A>G | CA405666137 | RYR1 | c.6661A>G (p.Lys2221Glu) c.6658A>G (p.Lys2220Glu) c.113A>G n.6744A>G | |
19 | g.38496327A>T | CA405666138 | RYR1 | c.6661A>T (p.Lys2221Ter) c.6658A>T (p.Lys2220Ter) c.113A>T n.6744A>T |