Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38500677C>A | CA405670105 | RYR1 | c.7395C>A (p.Asp2465Glu) c.7392C>A (p.Asp2464Glu) c.847C>A n.7478C>A | |
19 | g.38500677C>G | CA405670104 | RYR1 | c.7395C>G (p.Asp2465Glu) c.7392C>G (p.Asp2464Glu) c.847C>G n.7478C>G | |
19 | g.38500677C>T | CA507353959 | RYR1 | c.7395C>T (p.Asp2465=) c.7392C>T (p.Asp2464=) c.847C>T n.7478C>T | |
19 | g.38500678C>A | CA405670106 | RYR1 | c.7396C>A (p.Leu2466Ile) c.7393C>A (p.Leu2465Ile) c.848C>A n.7479C>A | |
19 | g.38500678C= | CA2335053370 | RYR1 | c.7396C= (p.Leu2466=) c.7393C= (p.Leu2465=) c.848C= n.7479C= | |
19 | g.38500678C>G | CA405670109 | RYR1 | c.7396C>G (p.Leu2466Val) c.7393C>G (p.Leu2465Val) c.848C>G n.7479C>G | gnomAD v4 |
19 | g.38500678C>T | CA069593 | RYR1 | c.7396C>T (p.Leu2466Phe) c.7393C>T (p.Leu2465Phe) c.848C>T n.7479C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38500679T>A | CA405670111 | RYR1 | c.7397T>A (p.Leu2466His) c.7394T>A (p.Leu2465His) c.849T>A n.7480T>A | |
19 | g.38500679T>C | CA405670112 | RYR1 | c.7397T>C (p.Leu2466Pro) c.7394T>C (p.Leu2465Pro) c.849T>C n.7480T>C | |
19 | g.38500679T>G | CA405670113 | RYR1 | c.7397T>G (p.Leu2466Arg) c.7394T>G (p.Leu2465Arg) c.849T>G n.7480T>G | |
19 | g.38500680T>A | CA507353960 | RYR1 | c.7398T>A (p.Leu2466=) c.7395T>A (p.Leu2465=) c.850T>A n.7481T>A | |
19 | g.38500680T>C | CA507353961 | RYR1 | c.7398T>C (p.Leu2466=) c.7395T>C (p.Leu2465=) c.850T>C n.7481T>C | |
19 | g.38500680T>G | CA507353962 | RYR1 | c.7398T>G (p.Leu2466=) c.7395T>G (p.Leu2465=) c.850T>G n.7481T>G | |
19 | g.38500681G>A | CA405670115 | RYR1 | c.7399G>A (p.Val2467Met) c.7396G>A (p.Val2466Met) c.851G>A n.7482G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500681G>C | CA405670117 | RYR1 | c.7399G>C (p.Val2467Leu) c.7396G>C (p.Val2466Leu) c.851G>C n.7482G>C | ClinVar |
19 | g.38500681G= | CA2335053371 | RYR1 | c.7399G= (p.Val2467=) c.7396G= (p.Val2466=) c.851G= n.7482G= | |
19 | g.38500681G>T | CA405670118 | RYR1 | c.7399G>T (p.Val2467Leu) c.7396G>T (p.Val2466Leu) c.851G>T n.7482G>T | |
19 | g.38500682T>A | CA405670120 | RYR1 | c.7400T>A (p.Val2467Glu) c.7397T>A (p.Val2466Glu) c.852T>A n.7483T>A | |
19 | g.38500682T>C | CA405670121 | RYR1 | c.7400T>C (p.Val2467Ala) c.7397T>C (p.Val2466Ala) c.852T>C n.7483T>C | |
19 | g.38500682T>G | CA405670123 | RYR1 | c.7400T>G (p.Val2467Gly) c.7397T>G (p.Val2466Gly) c.852T>G n.7483T>G | |
19 | g.38500683G>A | CA308110426 | RYR1 | c.7401G>A (p.Val2467=) c.7398G>A (p.Val2466=) c.853G>A n.7484G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500683G>C | CA507353964 | RYR1 | c.7401G>C (p.Val2467=) c.7398G>C (p.Val2466=) c.853G>C n.7484G>C | |
19 | g.38500683G= | CA2335053372 | RYR1 | c.7401G= (p.Val2467=) c.7398G= (p.Val2466=) c.853G= n.7484G= | |
19 | g.38500683G>T | CA507353963 | RYR1 | c.7401G>T (p.Val2467=) c.7398G>T (p.Val2466=) c.853G>T n.7484G>T | |
19 | g.38500684G>A | CA405670124 | RYR1 | c.7402G>A (p.Gly2468Ser) c.7399G>A (p.Gly2467Ser) c.854G>A n.7485G>A | |
19 | g.38500684G>C | CA405670127 | RYR1 | c.7402G>C (p.Gly2468Arg) c.7399G>C (p.Gly2467Arg) c.854G>C n.7485G>C | |
19 | g.38500684G>T | CA405670128 | RYR1 | c.7402G>T (p.Gly2468Cys) c.7399G>T (p.Gly2467Cys) c.854G>T n.7485G>T | |
19 | g.38500685G>A | CA069603 | RYR1 | c.7403G>A (p.Gly2468Asp) c.7400G>A (p.Gly2467Asp) c.855G>A n.7486G>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.38500685G>C | CA405670130 | RYR1 | c.7403G>C (p.Gly2468Ala) c.7400G>C (p.Gly2467Ala) c.855G>C n.7486G>C | |
19 | g.38500685G= | CA2335053373 | RYR1 | c.7403G= (p.Gly2468=) c.7400G= (p.Gly2467=) c.855G= n.7486G= | |
19 | g.38500685G>T | CA405670129 | RYR1 | c.7403G>T (p.Gly2468Val) c.7400G>T (p.Gly2467Val) c.855G>T n.7486G>T | |
19 | g.38500686C>A | CA507353965 | RYR1 | c.7404C>A (p.Gly2468=) c.7401C>A (p.Gly2467=) c.856C>A n.7487C>A | |
19 | g.38500686C>G | CA507353966 | RYR1 | c.7404C>G (p.Gly2468=) c.7401C>G (p.Gly2467=) c.856C>G n.7487C>G | |
19 | g.38500686C>T | CA507353967 | RYR1 | c.7404C>T (p.Gly2468=) c.7401C>T (p.Gly2467=) c.856C>T n.7487C>T | |
19 | g.38500691_38500693del | CA2576770848 | RYR1 | c.7409_7411del (p.Ile2470del) c.7406_7408del (p.Ile2469del) c.861_863del n.7492_7494del | |
19 | g.38500687A>C | CA405670131 | RYR1 | c.7405A>C (p.Ile2469Leu) c.7402A>C (p.Ile2468Leu) c.857A>C n.7488A>C | |
19 | g.38500687A>G | CA405670132 | RYR1 | c.7405A>G (p.Ile2469Val) c.7402A>G (p.Ile2468Val) c.857A>G n.7488A>G | |
19 | g.38500687A>T | CA405670133 | RYR1 | c.7405A>T (p.Ile2469Phe) c.7402A>T (p.Ile2468Phe) c.857A>T n.7488A>T | |
19 | g.38500688T>A | CA405670134 | RYR1 | c.7406T>A (p.Ile2469Asn) c.7403T>A (p.Ile2468Asn) c.858T>A n.7489T>A | |
19 | g.38500688T>C | CA069604 | RYR1 | c.7406T>C (p.Ile2469Thr) c.7403T>C (p.Ile2468Thr) c.858T>C n.7489T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500688T>G | CA405670135 | RYR1 | c.7406T>G (p.Ile2469Ser) c.7403T>G (p.Ile2468Ser) c.858T>G n.7489T>G | |
19 | g.38500688T= | CA2335053374 | RYR1 | c.7406T= (p.Ile2469=) c.7403T= (p.Ile2468=) c.858T= n.7489T= | |
19 | g.38500689C>A | CA507353968 | RYR1 | c.7407C>A (p.Ile2469=) c.7404C>A (p.Ile2468=) c.859C>A n.7490C>A | |
19 | g.38500689C>G | CA405670136 | RYR1 | c.7407C>G (p.Ile2469Met) c.7404C>G (p.Ile2468Met) c.859C>G n.7490C>G | |
19 | g.38500689C>T | CA507353969 | RYR1 | c.7407C>T (p.Ile2469=) c.7404C>T (p.Ile2468=) c.859C>T n.7490C>T | COSMIC |
19 | g.38500690A>C | CA405670137 | RYR1 | c.7408A>C (p.Ile2470Leu) c.7405A>C (p.Ile2469Leu) c.860A>C n.7491A>C | |
19 | g.38500690A>G | CA405670138 | RYR1 | c.7408A>G (p.Ile2470Val) c.7405A>G (p.Ile2469Val) c.860A>G n.7491A>G | |
19 | g.38500690A>T | CA405670139 | RYR1 | c.7408A>T (p.Ile2470Phe) c.7405A>T (p.Ile2469Phe) c.860A>T n.7491A>T | |
19 | g.38500691T>A | CA405670140 | RYR1 | c.7409T>A (p.Ile2470Asn) c.7406T>A (p.Ile2469Asn) c.861T>A n.7492T>A | |
19 | g.38500691T>C | CA082438 | RYR1 | c.7409T>C (p.Ile2470Thr) c.7406T>C (p.Ile2469Thr) c.861T>C n.7492T>C | |
19 | g.38500691T>G | CA405670141 | RYR1 | c.7409T>G (p.Ile2470Ser) c.7406T>G (p.Ile2469Ser) c.861T>G n.7492T>G | |
19 | g.38500692C>A | CA507353970 | RYR1 | c.7410C>A (p.Ile2470=) c.7407C>A (p.Ile2469=) c.862C>A n.7493C>A | |
19 | g.38500692C= | CA2335053375 | RYR1 | c.7410C= (p.Ile2470=) c.7407C= (p.Ile2469=) c.862C= n.7493C= | |
19 | g.38500692C>G | CA405670142 | RYR1 | c.7410C>G (p.Ile2470Met) c.7407C>G (p.Ile2469Met) c.862C>G n.7493C>G | |
19 | g.38500692C>T | CA069609 | RYR1 | c.7410C>T (p.Ile2470=) c.7407C>T (p.Ile2469=) c.862C>T n.7493C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500693A>C | CA405670143 | RYR1 | c.7411A>C (p.Ser2471Arg) c.7408A>C (p.Ser2470Arg) c.863A>C n.7494A>C | |
19 | g.38500693A>G | CA405670145 | RYR1 | c.7411A>G (p.Ser2471Gly) c.7408A>G (p.Ser2470Gly) c.863A>G n.7494A>G | |
19 | g.38500693A>T | CA405670144 | RYR1 | c.7411A>T (p.Ser2471Cys) c.7408A>T (p.Ser2470Cys) c.863A>T n.7494A>T | |
19 | g.38500694G>A | CA405670146 | RYR1 | c.7412G>A (p.Ser2471Asn) c.7409G>A (p.Ser2470Asn) c.864G>A n.7495G>A | dbSNP gnomAD v2 |
19 | g.38500694G>C | CA405670147 | RYR1 | c.7412G>C (p.Ser2471Thr) c.7409G>C (p.Ser2470Thr) c.864G>C n.7495G>C | |
19 | g.38500694G= | CA2335053376 | RYR1 | c.7412G= (p.Ser2471=) c.7409G= (p.Ser2470=) c.864G= n.7495G= | |
19 | g.38500694G>T | CA405670148 | RYR1 | c.7412G>T (p.Ser2471Ile) c.7409G>T (p.Ser2470Ile) c.864G>T n.7495G>T | |
19 | g.38500695C>A | CA405670149 | RYR1 | c.7413C>A (p.Ser2471Arg) c.7410C>A (p.Ser2470Arg) c.865C>A n.7496C>A | |
19 | g.38500695C>G | CA405670151 | RYR1 | c.7413C>G (p.Ser2471Arg) c.7410C>G (p.Ser2470Arg) c.865C>G n.7496C>G | |
19 | g.38500695C>T | CA082439 | RYR1 | c.7413C>T (p.Ser2471=) c.7410C>T (p.Ser2470=) c.865C>T n.7496C>T | |
19 | g.38500696C>A | CA405670152 | RYR1 | c.7414C>A (p.Leu2472Ile) c.7411C>A (p.Leu2471Ile) c.866C>A n.7497C>A | |
19 | g.38500696C>G | CA405670153 | RYR1 | c.7414C>G (p.Leu2472Val) c.7411C>G (p.Leu2471Val) c.866C>G n.7497C>G | |
19 | g.38500696C>T | CA405670154 | RYR1 | c.7414C>T (p.Leu2472Phe) c.7411C>T (p.Leu2471Phe) c.866C>T n.7497C>T | gnomAD v4 |
19 | g.38500697T>A | CA405670155 | RYR1 | c.7415T>A (p.Leu2472His) c.7412T>A (p.Leu2471His) c.867T>A n.7498T>A | |
19 | g.38500697T>C | CA405670156 | RYR1 | c.7415T>C (p.Leu2472Pro) c.7412T>C (p.Leu2471Pro) c.867T>C n.7498T>C | |
19 | g.38500697T>G | CA405670157 | RYR1 | c.7415T>G (p.Leu2472Arg) c.7412T>G (p.Leu2471Arg) c.867T>G n.7498T>G | |
19 | g.38500698C>A | CA507353971 | RYR1 | c.7416C>A (p.Leu2472=) c.7413C>A (p.Leu2471=) c.868C>A n.7499C>A | |
19 | g.38500698C= | CA2335053377 | RYR1 | c.7416C= (p.Leu2472=) c.7413C= (p.Leu2471=) c.868C= n.7499C= | |
19 | g.38500698C>G | CA308110445 | RYR1 | c.7416C>G (p.Leu2472=) c.7413C>G (p.Leu2471=) c.868C>G n.7499C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500698C>T | CA507353972 | RYR1 | c.7416C>T (p.Leu2472=) c.7413C>T (p.Leu2471=) c.868C>T n.7499C>T | |
19 | g.38500700dup | CA2843262441 | RYR1 | c.7418dup (p.Leu2474ThrfsTer?) c.7415dup (p.Leu2473ThrfsTer?) c.870dup n.7501dup | |
19 | g.38500699C>A | CA405670160 | RYR1 | c.7417C>A (p.Pro2473Thr) c.7414C>A (p.Pro2472Thr) c.869C>A n.7500C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500699C= | CA2335053378 | RYR1 | c.7417C= (p.Pro2473=) c.7414C= (p.Pro2472=) c.869C= n.7500C= | |
19 | g.38500699C>G | CA405670159 | RYR1 | c.7417C>G (p.Pro2473Ala) c.7414C>G (p.Pro2472Ala) c.869C>G n.7500C>G | |
19 | g.38500699C>T | CA405670158 | RYR1 | c.7417C>T (p.Pro2473Ser) c.7414C>T (p.Pro2472Ser) c.869C>T n.7500C>T | dbSNP gnomAD v4 |
19 | g.38500700C>A | CA405670161 | RYR1 | c.7418C>A (p.Pro2473Gln) c.7415C>A (p.Pro2472Gln) c.870C>A n.7501C>A | |
19 | g.38500700C>G | CA405670162 | RYR1 | c.7418C>G (p.Pro2473Arg) c.7415C>G (p.Pro2472Arg) c.870C>G n.7501C>G | |
19 | g.38500700C>T | CA405670163 | RYR1 | c.7418C>T (p.Pro2473Leu) c.7415C>T (p.Pro2472Leu) c.870C>T n.7501C>T | |
19 | g.38500701A= | CA2335053379 | RYR1 | c.7419A= (p.Pro2473=) c.7416A= (p.Pro2472=) c.871A= n.7502A= | |
19 | g.38500701A>C | CA507353973 | RYR1 | c.7419A>C (p.Pro2473=) c.7416A>C (p.Pro2472=) c.871A>C n.7502A>C | |
19 | g.38500701A>G | CA507353974 | RYR1 | c.7419A>G (p.Pro2473=) c.7416A>G (p.Pro2472=) c.871A>G n.7502A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500701A>T | CA507353975 | RYR1 | c.7419A>T (p.Pro2473=) c.7416A>T (p.Pro2472=) c.871A>T n.7502A>T | |
19 | g.38500702C>A | CA405670164 | RYR1 | c.7420C>A (p.Leu2474Met) c.7417C>A (p.Leu2473Met) c.872C>A n.7503C>A | |
19 | g.38500702C= | CA2335053380 | RYR1 | c.7420C= (p.Leu2474=) c.7417C= (p.Leu2473=) c.872C= n.7503C= | |
19 | g.38500702C>G | CA069613 | RYR1 | c.7420C>G (p.Leu2474Val) c.7417C>G (p.Leu2473Val) c.872C>G n.7503C>G | ClinVar dbSNP ExAC gnomAD v2 |
19 | g.38500702C>T | CA507353976 | RYR1 | c.7420C>T (p.Leu2474=) c.7417C>T (p.Leu2473=) c.872C>T n.7503C>T | |
19 | g.38500703_38500705dup | CA308110455 | RYR1 | c.7421_7423dup (p.Leu2474_Gln2475insLeu) c.7418_7420dup (p.Leu2473_Gln2474insLeu) c.873_875dup n.7504_7506dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500703T>A | CA405670165 | RYR1 | c.7421T>A (p.Leu2474Gln) c.7418T>A (p.Leu2473Gln) c.873T>A n.7504T>A | |
19 | g.38500703T>C | CA405670166 | RYR1 | c.7421T>C (p.Leu2474Pro) c.7418T>C (p.Leu2473Pro) c.873T>C n.7504T>C | |
19 | g.38500703T>G | CA405670167 | RYR1 | c.7421T>G (p.Leu2474Arg) c.7418T>G (p.Leu2473Arg) c.873T>G n.7504T>G | |
19 | g.38500704G>A | CA069615 | RYR1 | c.7422G>A (p.Leu2474=) c.7419G>A (p.Leu2473=) c.874G>A n.7505G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38500704G>C | CA507353978 | RYR1 | c.7422G>C (p.Leu2474=) c.7419G>C (p.Leu2473=) c.874G>C n.7505G>C | |
19 | g.38500704G= | CA2335053381 | RYR1 | c.7422G= (p.Leu2474=) c.7419G= (p.Leu2473=) c.874G= n.7505G= | |
19 | g.38500704G>T | CA507353977 | RYR1 | c.7422G>T (p.Leu2474=) c.7419G>T (p.Leu2473=) c.874G>T n.7505G>T | |
19 | g.38500704_38500705delinsGC | CA2335053382 | RYR1 | c.7422_7423delinsGC (p.Leu2474=) c.7419_7420delinsGC (p.Leu2473=) c.874_875delinsGC n.7505_7506delinsGC | |
19 | g.38500705del | CA882052351 | RYR1 | c.7423del (p.Gln2475ArgfsTer?) c.7420del (p.Gln2474ArgfsTer?) c.875del n.7506del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500705C>A | CA405670168 | RYR1 | c.7423C>A (p.Gln2475Lys) c.7420C>A (p.Gln2474Lys) c.875C>A n.7506C>A | gnomAD v4 |
19 | g.38500705C>G | CA082440 | RYR1 | c.7423C>G (p.Gln2475Glu) c.7420C>G (p.Gln2474Glu) c.875C>G n.7506C>G | |
19 | g.38500705C>T | CA405670169 | RYR1 | c.7423C>T (p.Gln2475Ter) c.7420C>T (p.Gln2474Ter) c.875C>T n.7506C>T | gnomAD v4 |
19 | g.38500706A>C | CA405670170 | RYR1 | c.7424A>C (p.Gln2475Pro) c.7421A>C (p.Gln2474Pro) c.876A>C n.7507A>C | |
19 | g.38500706A>G | CA405670172 | RYR1 | c.7424A>G (p.Gln2475Arg) c.7421A>G (p.Gln2474Arg) c.876A>G n.7507A>G | |
19 | g.38500706A>T | CA405670171 | RYR1 | c.7424A>T (p.Gln2475Leu) c.7421A>T (p.Gln2474Leu) c.876A>T n.7507A>T | |
19 | g.38500707G>A | CA024793 | RYR1 | c.7425G>A (p.Gln2475=) c.7422G>A (p.Gln2474=) c.877G>A n.7508G>A | ClinVar dbSNP |
19 | g.38500707G>C | CA405670174 | RYR1 | c.7425G>C (p.Gln2475His) c.7422G>C (p.Gln2474His) c.877G>C n.7508G>C | |
19 | g.38500707G= | CA2335053383 | RYR1 | c.7425G= (p.Gln2475=) c.7422G= (p.Gln2474=) c.877G= n.7508G= | |
19 | g.38500707G>T | CA405670173 | RYR1 | c.7425G>T (p.Gln2475His) c.7422G>T (p.Gln2474His) c.877G>T n.7508G>T | COSMIC |
19 | g.38500708A= | CA2335053384 | RYR1 | c.7426A= (p.Ile2476=) c.7423A= (p.Ile2475=) c.878A= n.7509A= | |
19 | g.38500708A>C | CA308110483 | RYR1 | c.7426A>C (p.Ile2476Leu) c.7423A>C (p.Ile2475Leu) c.878A>C n.7509A>C | dbSNP |
19 | g.38500708A>G | CA405670175 | RYR1 | c.7426A>G (p.Ile2476Val) c.7423A>G (p.Ile2475Val) c.878A>G n.7509A>G | |
19 | g.38500708A>T | CA405670176 | RYR1 | c.7426A>T (p.Ile2476Phe) c.7423A>T (p.Ile2475Phe) c.878A>T n.7509A>T | ClinVar gnomAD v4 |
19 | g.38500709T>A | CA405670177 | RYR1 | c.7427T>A (p.Ile2476Asn) c.7424T>A (p.Ile2475Asn) c.879T>A n.7510T>A | |
19 | g.38500709T>C | CA405670178 | RYR1 | c.7427T>C (p.Ile2476Thr) c.7424T>C (p.Ile2475Thr) c.879T>C n.7510T>C | |
19 | g.38500709T>G | CA405670179 | RYR1 | c.7427T>G (p.Ile2476Ser) c.7424T>G (p.Ile2475Ser) c.879T>G n.7510T>G | dbSNP gnomAD v4 |
19 | g.38500709T= | CA2335053385 | RYR1 | c.7427T= (p.Ile2476=) c.7424T= (p.Ile2475=) c.879T= n.7510T= | |
19 | g.38500710T>A | CA507353979 | RYR1 | c.7428T>A (p.Ile2476=) c.7425T>A (p.Ile2475=) c.880T>A n.7511T>A | |
19 | g.38500710T>C | CA507353980 | RYR1 | c.7428T>C (p.Ile2476=) c.7425T>C (p.Ile2475=) c.880T>C n.7511T>C | |
19 | g.38500710T>G | CA405670180 | RYR1 | c.7428T>G (p.Ile2476Met) c.7425T>G (p.Ile2475Met) c.880T>G n.7511T>G | |
19 | g.38500711C>A | CA405670181 | RYR1 | c.7429C>A (p.Pro2477Thr) c.7426C>A (p.Pro2476Thr) c.881C>A n.7512C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500711C= | CA2335053386 | RYR1 | c.7429C= (p.Pro2477=) c.7426C= (p.Pro2476=) c.881C= n.7512C= | |
19 | g.38500711C>G | CA405670182 | RYR1 | c.7429C>G (p.Pro2477Ala) c.7426C>G (p.Pro2476Ala) c.881C>G n.7512C>G | |
19 | g.38500711C>T | CA308110491 | RYR1 | c.7429C>T (p.Pro2477Ser) c.7426C>T (p.Pro2476Ser) c.881C>T n.7512C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500712C>A | CA405670183 | RYR1 | c.7430C>A (p.Pro2477His) c.7427C>A (p.Pro2476His) c.882C>A n.7513C>A | |
19 | g.38500712C>G | CA405670184 | RYR1 | c.7430C>G (p.Pro2477Arg) c.7427C>G (p.Pro2476Arg) c.882C>G n.7513C>G | |
19 | g.38500712C>T | CA405670185 | RYR1 | c.7430C>T (p.Pro2477Leu) c.7427C>T (p.Pro2476Leu) c.882C>T n.7513C>T | |
19 | g.38500713C>A | CA507353981 | RYR1 | c.7431C>A (p.Pro2477=) c.7428C>A (p.Pro2476=) c.883C>A n.7514C>A | |
19 | g.38500713C>G | CA507353982 | RYR1 | c.7431C>G (p.Pro2477=) c.7428C>G (p.Pro2476=) c.883C>G n.7514C>G | |
19 | g.38500713C>T | CA507353983 | RYR1 | c.7431C>T (p.Pro2477=) c.7428C>T (p.Pro2476=) c.883C>T n.7514C>T | |
19 | g.38500714A= | CA2335053387 | RYR1 | c.7432A= (p.Thr2478=) c.7429A= (p.Thr2477=) c.884A= n.7515A= | |
19 | g.38500714A>C | CA405670186 | RYR1 | c.7432A>C (p.Thr2478Pro) c.7429A>C (p.Thr2477Pro) c.884A>C n.7515A>C | |
19 | g.38500714A>G | CA405670188 | RYR1 | c.7432A>G (p.Thr2478Ala) c.7429A>G (p.Thr2477Ala) c.884A>G n.7515A>G | dbSNP |
19 | g.38500714A>T | CA405670187 | RYR1 | c.7432A>T (p.Thr2478Ser) c.7429A>T (p.Thr2477Ser) c.884A>T n.7515A>T | |
19 | g.38500715C>A | CA069622 | RYR1 | c.7433C>A (p.Thr2478Asn) c.7430C>A (p.Thr2477Asn) c.885C>A n.7516C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500715C= | CA2335053388 | RYR1 | c.7433C= (p.Thr2478=) c.7430C= (p.Thr2477=) c.885C= n.7516C= | |
19 | g.38500715C>G | CA405670189 | RYR1 | c.7433C>G (p.Thr2478Ser) c.7430C>G (p.Thr2477Ser) c.885C>G n.7516C>G | |
19 | g.38500715C>T | CA405670190 | RYR1 | c.7433C>T (p.Thr2478Ile) c.7430C>T (p.Thr2477Ile) c.885C>T n.7516C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500716C>A | CA507353984 | RYR1 | c.7434C>A (p.Thr2478=) c.7431C>A (p.Thr2477=) c.886C>A n.7517C>A | gnomAD v4 |
19 | g.38500716C= | CA2335053389 | RYR1 | c.7434C= (p.Thr2478=) c.7431C= (p.Thr2477=) c.886C= n.7517C= | |
19 | g.38500716C>G | CA069624 | RYR1 | c.7434C>G (p.Thr2478=) c.7431C>G (p.Thr2477=) c.886C>G n.7517C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38500716C>T | CA507353985 | RYR1 | c.7434C>T (p.Thr2478=) c.7431C>T (p.Thr2477=) c.886C>T n.7517C>T | gnomAD v4 |
19 | g.38500717C>A | CA405670191 | RYR1 | c.7435C>A (p.Leu2479Met) c.7432C>A (p.Leu2478Met) c.887C>A n.7518C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38500717C= | CA2335053390 | RYR1 | c.7435C= (p.Leu2479=) c.7432C= (p.Leu2478=) c.887C= n.7518C= | |
19 | g.38500717C>G | CA405670192 | RYR1 | c.7435C>G (p.Leu2479Val) c.7432C>G (p.Leu2478Val) c.887C>G n.7518C>G | gnomAD v4 |
19 | g.38500717C>T | CA069628 | RYR1 | c.7435C>T (p.Leu2479=) c.7432C>T (p.Leu2478=) c.887C>T n.7518C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500718T>A | CA405670193 | RYR1 | c.7436T>A (p.Leu2479Gln) c.7433T>A (p.Leu2478Gln) c.888T>A n.7519T>A | |
19 | g.38500718T>C | CA405670194 | RYR1 | c.7436T>C (p.Leu2479Pro) c.7433T>C (p.Leu2478Pro) c.888T>C n.7519T>C | dbSNP gnomAD v4 |
19 | g.38500718T>G | CA405670195 | RYR1 | c.7436T>G (p.Leu2479Arg) c.7433T>G (p.Leu2478Arg) c.888T>G n.7519T>G | |
19 | g.38500718T= | CA2335053391 | RYR1 | c.7436T= (p.Leu2479=) c.7433T= (p.Leu2478=) c.888T= n.7519T= | |
19 | g.38500719G>A | CA507353986 | RYR1 | c.7437G>A (p.Leu2479=) c.7434G>A (p.Leu2478=) c.889G>A n.7520G>A | |
19 | g.38500719G>C | CA507353987 | RYR1 | c.7437G>C (p.Leu2479=) c.7434G>C (p.Leu2478=) c.889G>C n.7520G>C | |
19 | g.38500719G>T | CA507353988 | RYR1 | c.7437G>T (p.Leu2479=) c.7434G>T (p.Leu2478=) c.889G>T n.7520G>T | |
19 | g.38500720G>A | CA069632 | RYR1 | c.7438G>A (p.Gly2480Ser) c.7435G>A (p.Gly2479Ser) c.890G>A n.7521G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500720G>C | CA405670197 | RYR1 | c.7438G>C (p.Gly2480Arg) c.7435G>C (p.Gly2479Arg) c.890G>C n.7521G>C | |
19 | g.38500720G= | CA2335053392 | RYR1 | c.7438G= (p.Gly2480=) c.7435G= (p.Gly2479=) c.890G= n.7521G= | |
19 | g.38500720G>T | CA405670196 | RYR1 | c.7438G>T (p.Gly2480Cys) c.7435G>T (p.Gly2479Cys) c.890G>T n.7521G>T | |
19 | g.38500721G>A | CA405670198 | RYR1 | c.7439G>A (p.Gly2480Asp) c.7436G>A (p.Gly2479Asp) c.891G>A n.7522G>A | |
19 | g.38500721G>C | CA405670199 | RYR1 | c.7439G>C (p.Gly2480Ala) c.7436G>C (p.Gly2479Ala) c.891G>C n.7522G>C | |
19 | g.38500721G>T | CA405670200 | RYR1 | c.7439G>T (p.Gly2480Val) c.7436G>T (p.Gly2479Val) c.891G>T n.7522G>T | |
19 | g.38500722C>A | CA069636 | RYR1 | c.7440C>A (p.Gly2480=) c.7437C>A (p.Gly2479=) c.892C>A n.7523C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500722C= | CA2335053393 | RYR1 | c.7440C= (p.Gly2480=) c.7437C= (p.Gly2479=) c.892C= n.7523C= | |
19 | g.38500722C>G | CA507353989 | RYR1 | c.7440C>G (p.Gly2480=) c.7437C>G (p.Gly2479=) c.892C>G n.7523C>G | |
19 | g.38500722C>T | CA507353990 | RYR1 | c.7440C>T (p.Gly2480=) c.7437C>T (p.Gly2479=) c.892C>T n.7523C>T | |
19 | g.38500723A>C | CA405670201 | RYR1 | c.7441A>C (p.Lys2481Gln) c.7438A>C (p.Lys2480Gln) c.893A>C n.7524A>C | |
19 | g.38500723A>G | CA405670202 | RYR1 | c.7441A>G (p.Lys2481Glu) c.7438A>G (p.Lys2480Glu) c.893A>G n.7524A>G | |
19 | g.38500723A>T | CA405670203 | RYR1 | c.7441A>T (p.Lys2481Ter) c.7438A>T (p.Lys2480Ter) c.893A>T n.7524A>T | |
19 | g.38500724A>C | CA405670204 | RYR1 | c.7442A>C (p.Lys2481Thr) c.7439A>C (p.Lys2480Thr) c.894A>C n.7525A>C | |
19 | g.38500724A>G | CA405670205 | RYR1 | c.7442A>G (p.Lys2481Arg) c.7439A>G (p.Lys2480Arg) c.894A>G n.7525A>G | ClinVar dbSNP gnomAD v4 |
19 | g.38500724A>T | CA405670206 | RYR1 | c.7442A>T (p.Lys2481Ile) c.7439A>T (p.Lys2480Ile) c.894A>T n.7525A>T | |
19 | g.38500725A= | CA2335053394 | RYR1 | c.7443A= (p.Lys2481=) c.7440A= (p.Lys2480=) c.895A= n.7526A= | |
19 | g.38500725A>C | CA405670207 | RYR1 | c.7443A>C (p.Lys2481Asn) c.7440A>C (p.Lys2480Asn) c.895A>C n.7526A>C | |
19 | g.38500725A>G | CA507353991 | RYR1 | c.7443A>G (p.Lys2481=) c.7440A>G (p.Lys2480=) c.895A>G n.7526A>G | |
19 | g.38500725A>T | CA405670208 | RYR1 | c.7443A>T (p.Lys2481Asn) c.7440A>T (p.Lys2480Asn) c.895A>T n.7526A>T | dbSNP |
19 | g.38500726G>A | CA069661 | RYR1 | c.7444G>A (p.Asp2482Asn) c.7441G>A (p.Asp2481Asn) c.896G>A n.7527G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38500726G>C | CA405670210 | RYR1 | c.7444G>C (p.Asp2482His) c.7441G>C (p.Asp2481His) c.896G>C n.7527G>C | |
19 | g.38500726G= | CA2335053395 | RYR1 | c.7444G= (p.Asp2482=) c.7441G= (p.Asp2481=) c.896G= n.7527G= | |
19 | g.38500726G>T | CA405670209 | RYR1 | c.7444G>T (p.Asp2482Tyr) c.7441G>T (p.Asp2481Tyr) c.896G>T n.7527G>T | gnomAD v4 |
19 | g.38500727G>A | CA405670211 | RYR1 | c.7444+1G>A (n.7444+1G>A) c.7441+1G>A (n.7441+1G>A) c.896+1G>A n.7527+1G>A | |
19 | g.38500727G>C | CA308110510 | RYR1 | c.7444+1G>C (n.7444+1G>C) c.7441+1G>C (n.7441+1G>C) c.896+1G>C n.7527+1G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500727G= | CA2335053396 | RYR1 | c.7444+1G= (n.7444+1G=) c.7441+1G= (n.7441+1G=) c.896+1G= n.7527+1G= | |
19 | g.38500727G>T | CA405670212 | RYR1 | c.7444+1G>T (n.7444+1G>T) c.7441+1G>T (n.7441+1G>T) c.896+1G>T n.7527+1G>T | |
19 | g.38500728T>A | CA405670213 | RYR1 | c.7444+2T>A (n.7444+2T>A) c.7441+2T>A (n.7441+2T>A) c.896+2T>A n.7527+2T>A | |
19 | g.38500728T>C | CA405670214 | RYR1 | c.7444+2T>C (n.7444+2T>C) c.7441+2T>C (n.7441+2T>C) c.896+2T>C n.7527+2T>C | ClinVar |
19 | g.38500728T>G | CA405670215 | RYR1 | c.7444+2T>G (n.7444+2T>G) c.7441+2T>G (n.7441+2T>G) c.896+2T>G n.7527+2T>G | |
19 | g.38500730C= | CA2335053397 | RYR1 | c.7444+4C= (n.7444+4C=) c.7441+4C= (n.7441+4C=) c.896+4C= n.7527+4C= | |
19 | g.38500730C>T | CA2335053398 | RYR1 | c.7444+4C>T (n.7444+4C>T) c.7441+4C>T (n.7441+4C>T) c.896+4C>T n.7527+4C>T | dbSNP gnomAD v4 |
19 | g.38500731A= | CA2335053399 | RYR1 | c.7444+5A= (n.7444+5A=) c.7441+5A= (n.7441+5A=) c.896+5A= n.7527+5A= | |
19 | g.38500731A>G | CA069654 | RYR1 | c.7444+5A>G (n.7444+5A>G) c.7441+5A>G (n.7441+5A>G) c.896+5A>G n.7527+5A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38500734G>A | CA308110530 | RYR1 | c.7444+8G>A (n.7444+8G>A) c.7441+8G>A (n.7441+8G>A) c.896+8G>A n.7527+8G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500734G>C | CA2584900521 | RYR1 | c.7444+8G>C (n.7444+8G>C) c.7441+8G>C (n.7441+8G>C) c.896+8G>C n.7527+8G>C | gnomAD v4 |
19 | g.38500734G= | CA2335053400 | RYR1 | c.7444+8G= (n.7444+8G=) c.7441+8G= (n.7441+8G=) c.896+8G= n.7527+8G= | |
19 | g.38500734G>T | CA2584900522 | RYR1 | c.7444+8G>T (n.7444+8G>T) c.7441+8G>T (n.7441+8G>T) c.896+8G>T n.7527+8G>T | gnomAD v4 |
19 | g.38500737dup | CA2839137460 | RYR1 | c.7444+11dup (n.7444+11dup) c.7441+11dup (n.7441+11dup) c.896+11dup n.7527+11dup | |
19 | g.38500735G>A | CA069656 | RYR1 | c.7444+9G>A (n.7444+9G>A) c.7441+9G>A (n.7441+9G>A) c.896+9G>A n.7527+9G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500735G= | CA2335053401 | RYR1 | c.7444+9G= (n.7444+9G=) c.7441+9G= (n.7441+9G=) c.896+9G= n.7527+9G= | |
19 | g.38500735G>T | CA2573156343 | RYR1 | c.7444+9G>T (n.7444+9G>T) c.7441+9G>T (n.7441+9G>T) c.896+9G>T n.7527+9G>T | ClinVar dbSNP |
19 | g.38500736G>A | CA2335053403 | RYR1 | c.7444+10G>A (n.7444+10G>A) c.7441+10G>A (n.7441+10G>A) c.896+10G>A n.7527+10G>A | ClinVar dbSNP |
19 | g.38500736G= | CA2335053402 | RYR1 | c.7444+10G= (n.7444+10G=) c.7441+10G= (n.7441+10G=) c.896+10G= n.7527+10G= | |
19 | g.38500736G>T | CA2580610849 | RYR1 | c.7444+10G>T (n.7444+10G>T) c.7441+10G>T (n.7441+10G>T) c.896+10G>T n.7527+10G>T | |
19 | g.38500737G>A | CA2697556547 | RYR1 | c.7444+11G>A (n.7444+11G>A) c.7441+11G>A (n.7441+11G>A) c.896+11G>A n.7527+11G>A | ClinVar |
19 | g.38500738A>T | CA2584900523 | RYR1 | c.7444+12A>T (n.7444+12A>T) c.7441+12A>T (n.7441+12A>T) c.896+12A>T n.7527+12A>T | ClinVar gnomAD v4 |
19 | g.38500740G>A | CA633066118 | RYR1 | c.7444+14G>A (n.7444+14G>A) c.7441+14G>A (n.7441+14G>A) c.896+14G>A n.7527+14G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38500740G= | CA2335053404 | RYR1 | c.7444+14G= (n.7444+14G=) c.7441+14G= (n.7441+14G=) c.896+14G= n.7527+14G= | |
19 | g.38500741G>A | CA2584900524 | RYR1 | c.7444+15G>A (n.7444+15G>A) c.7441+15G>A (n.7441+15G>A) c.896+15G>A n.7527+15G>A | gnomAD v4 |
19 | g.38500741G>T | CA2814346330 | RYR1 | c.7444+15G>T (n.7444+15G>T) c.7441+15G>T (n.7441+15G>T) c.896+15G>T n.7527+15G>T | |
19 | g.38500743A= | CA2335053405 | RYR1 | c.7444+17A= (n.7444+17A=) c.7441+17A= (n.7441+17A=) c.896+17A= n.7527+17A= | |
19 | g.38500743A>C | CA633066119 | RYR1 | c.7444+17A>C (n.7444+17A>C) c.7441+17A>C (n.7441+17A>C) c.896+17A>C n.7527+17A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500746T>G | CA2584900525 | RYR1 | c.7444+20T>G (n.7444+20T>G) c.7441+20T>G (n.7441+20T>G) c.896+20T>G n.7527+20T>G | gnomAD v4 |
19 | g.38500747G>A | CA2584900526 | RYR1 | c.7444+21G>A (n.7444+21G>A) c.7441+21G>A (n.7441+21G>A) c.896+21G>A n.7527+21G>A | gnomAD v4 |
19 | g.38500749C>A | CA2335053407 | RYR1 | c.7444+23C>A (n.7444+23C>A) c.7441+23C>A (n.7441+23C>A) c.896+23C>A n.7527+23C>A | dbSNP |
19 | g.38500749C= | CA2335053406 | RYR1 | c.7444+23C= (n.7444+23C=) c.7441+23C= (n.7441+23C=) c.896+23C= n.7527+23C= | |
19 | g.38500749C>T | CA633066120 | RYR1 | c.7444+23C>T (n.7444+23C>T) c.7441+23C>T (n.7441+23C>T) c.896+23C>T n.7527+23C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500750G>A | CA069640 | RYR1 | c.7444+24G>A (n.7444+24G>A) c.7441+24G>A (n.7441+24G>A) c.896+24G>A n.7527+24G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500750G= | CA2335053408 | RYR1 | c.7444+24G= (n.7444+24G=) c.7441+24G= (n.7441+24G=) c.896+24G= n.7527+24G= | |
19 | g.38500753G>A | CA2584900527 | RYR1 | c.7444+27G>A (n.7444+27G>A) c.7441+27G>A (n.7441+27G>A) c.896+27G>A n.7527+27G>A | gnomAD v4 |
19 | g.38500753G>T | CA2839745718 | RYR1 | c.7444+27G>T (n.7444+27G>T) c.7441+27G>T (n.7441+27G>T) c.896+27G>T n.7527+27G>T | |
19 | g.38500754G>A | CA995716140 | RYR1 | c.7444+28G>A (n.7444+28G>A) c.7441+28G>A (n.7441+28G>A) c.896+28G>A n.7527+28G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500754G>C | CA2584900528 | RYR1 | c.7444+28G>C (n.7444+28G>C) c.7441+28G>C (n.7441+28G>C) c.896+28G>C n.7527+28G>C | gnomAD v4 |
19 | g.38500754G= | CA2335053409 | RYR1 | c.7444+28G= (n.7444+28G=) c.7441+28G= (n.7441+28G=) c.896+28G= n.7527+28G= | |
19 | g.38500755A= | CA2335053410 | RYR1 | c.7444+29A= (n.7444+29A=) c.7441+29A= (n.7441+29A=) c.896+29A= n.7527+29A= | |
19 | g.38500755A>C | CA633066121 | RYR1 | c.7444+29A>C (n.7444+29A>C) c.7441+29A>C (n.7441+29A>C) c.896+29A>C n.7527+29A>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38500755A>G | CA069643 | RYR1 | c.7444+29A>G (n.7444+29A>G) c.7441+29A>G (n.7441+29A>G) c.896+29A>G n.7527+29A>G | dbSNP ExAC gnomAD v2 |
19 | g.38500756G>A | CA2335053412 | RYR1 | c.7444+30G>A (n.7444+30G>A) c.7441+30G>A (n.7441+30G>A) c.896+30G>A n.7527+30G>A | dbSNP |
19 | g.38500756G= | CA2335053411 | RYR1 | c.7444+30G= (n.7444+30G=) c.7441+30G= (n.7441+30G=) c.896+30G= n.7527+30G= | |
19 | g.38500757T>C | CA2335053414 | RYR1 | c.7444+31T>C (n.7444+31T>C) c.7441+31T>C (n.7441+31T>C) c.896+31T>C n.7527+31T>C | dbSNP |
19 | g.38500757T>G | CA2335053415 | RYR1 | c.7444+31T>G (n.7444+31T>G) c.7441+31T>G (n.7441+31T>G) c.896+31T>G n.7527+31T>G | dbSNP |
19 | g.38500757T= | CA2335053413 | RYR1 | c.7444+31T= (n.7444+31T=) c.7441+31T= (n.7441+31T=) c.896+31T= n.7527+31T= | |
19 | g.38500760T>G | CA069646 | RYR1 | c.7444+34T>G (n.7444+34T>G) c.7441+34T>G (n.7441+34T>G) c.896+34T>G n.7527+34T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500760T= | CA2335053416 | RYR1 | c.7444+34T= (n.7444+34T=) c.7441+34T= (n.7441+34T=) c.896+34T= n.7527+34T= | |
19 | g.38500761G>A | CA2576770875 | RYR1 | c.7444+35G>A (n.7444+35G>A) c.7441+35G>A (n.7441+35G>A) c.896+35G>A n.7527+35G>A | |
19 | g.38500761G>T | CA2736030390 | RYR1 | c.7444+35G>T (n.7444+35G>T) c.7441+35G>T (n.7441+35G>T) c.896+35G>T n.7527+35G>T | dbSNP |
19 | g.38500762C>T | CA2814346335 | RYR1 | c.7444+36C>T (n.7444+36C>T) c.7441+36C>T (n.7441+36C>T) c.896+36C>T n.7527+36C>T | |
19 | g.38500763T>G | CA2335053418 | RYR1 | c.7444+37T>G (n.7444+37T>G) c.7441+37T>G (n.7441+37T>G) c.896+37T>G n.7527+37T>G | dbSNP gnomAD v4 |
19 | g.38500763T= | CA2335053417 | RYR1 | c.7444+37T= (n.7444+37T=) c.7441+37T= (n.7441+37T=) c.896+37T= n.7527+37T= | |
19 | g.38500764G>T | CA2571420846 | RYR1 | c.7444+38G>T (n.7444+38G>T) c.7441+38G>T (n.7441+38G>T) c.896+38G>T n.7527+38G>T | |
19 | g.38500765G>A | CA2584900529 | RYR1 | c.7444+39G>A (n.7444+39G>A) c.7441+39G>A (n.7441+39G>A) c.896+39G>A n.7527+39G>A | gnomAD v4 |
19 | g.38500765G>T | CA2584900530 | RYR1 | c.7444+39G>T (n.7444+39G>T) c.7441+39G>T (n.7441+39G>T) c.896+39G>T n.7527+39G>T | gnomAD v4 |
19 | g.38500766G>T | CA2584900531 | RYR1 | c.7444+40G>T (n.7444+40G>T) c.7441+40G>T (n.7441+40G>T) c.896+40G>T n.7527+40G>T | gnomAD v4 |
19 | g.38500767G>A | CA633066122 | RYR1 | c.7444+41G>A (n.7444+41G>A) c.7441+41G>A (n.7441+41G>A) c.896+41G>A n.7527+41G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38500767G= | CA2335053419 | RYR1 | c.7444+41G= (n.7444+41G=) c.7441+41G= (n.7441+41G=) c.896+41G= n.7527+41G= | |
19 | g.38500769G>A | CA069650 | RYR1 | c.7444+43G>A (n.7444+43G>A) c.7441+43G>A (n.7441+43G>A) c.896+43G>A n.7527+43G>A | dbSNP ExAC gnomAD v2 |
19 | g.38500769G= | CA2335053420 | RYR1 | c.7444+43G= (n.7444+43G=) c.7441+43G= (n.7441+43G=) c.896+43G= n.7527+43G= | |
19 | g.38500770G>C | CA633066123 | RYR1 | c.7444+44G>C (n.7444+44G>C) c.7441+44G>C (n.7441+44G>C) c.896+44G>C n.7527+44G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38500770G= | CA2335053421 | RYR1 | c.7444+44G= (n.7444+44G=) c.7441+44G= (n.7441+44G=) c.896+44G= n.7527+44G= | |
19 | g.38500771G>A | CA069653 | RYR1 | c.7444+45G>A (n.7444+45G>A) c.7441+45G>A (n.7441+45G>A) c.896+45G>A n.7527+45G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500771G= | CA2335053422 | RYR1 | c.7444+45G= (n.7444+45G=) c.7441+45G= (n.7441+45G=) c.896+45G= n.7527+45G= | |
19 | g.38500774C= | CA2335053423 | RYR1 | c.7445-47C= (n.7445-47C=) c.7442-47C= (n.7442-47C=) c.897-47C= n.7528-47C= | |
19 | g.38500774C>T | CA308110558 | RYR1 | c.7445-47C>T (n.7445-47C>T) c.7442-47C>T (n.7442-47C>T) c.897-47C>T n.7528-47C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500775G>A | CA069683 | RYR1 | c.7445-46G>A (n.7445-46G>A) c.7442-46G>A (n.7442-46G>A) c.897-46G>A n.7528-46G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500775G>C | CA308110562 | RYR1 | c.7445-46G>C (n.7445-46G>C) c.7442-46G>C (n.7442-46G>C) c.897-46G>C n.7528-46G>C | dbSNP gnomAD v4 |
19 | g.38500775G= | CA2335053424 | RYR1 | c.7445-46G= (n.7445-46G=) c.7442-46G= (n.7442-46G=) c.897-46G= n.7528-46G= | |
19 | g.38500775G>T | CA069685 | RYR1 | c.7445-46G>T (n.7445-46G>T) c.7442-46G>T (n.7442-46G>T) c.897-46G>T n.7528-46G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500777C= | CA2335053425 | RYR1 | c.7445-44C= (n.7445-44C=) c.7442-44C= (n.7442-44C=) c.897-44C= n.7528-44C= | |
19 | g.38500777C>T | CA882052395 | RYR1 | c.7445-44C>T (n.7445-44C>T) c.7442-44C>T (n.7442-44C>T) c.897-44C>T n.7528-44C>T | dbSNP gnomAD v3 gnomAD v4 |