| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38572208T>A | CA405681202 | RYR1 | c.872T>A c.2269T>A c.2241T>A c.13936T>A (p.Cys4646Ser) c.13921T>A (p.Cys4641Ser) c.13918T>A (p.Cys4640Ser) c.396T>A c.13903T>A (p.Cys4635Ser) c.13933T>A (p.Cys4645Ser) c.13849T>A (p.Cys4617Ser) | |
| 19 | g.38572208T>C | CA405681207 | RYR1 | c.872T>C c.2269T>C c.2241T>C c.13936T>C (p.Cys4646Arg) c.13921T>C (p.Cys4641Arg) c.13918T>C (p.Cys4640Arg) c.396T>C c.13903T>C (p.Cys4635Arg) c.13933T>C (p.Cys4645Arg) c.13849T>C (p.Cys4617Arg) | |
| 19 | g.38572208T>G | CA405681204 | RYR1 | c.872T>G c.2269T>G c.2241T>G c.13936T>G (p.Cys4646Gly) c.13921T>G (p.Cys4641Gly) c.13918T>G (p.Cys4640Gly) c.396T>G c.13903T>G (p.Cys4635Gly) c.13933T>G (p.Cys4645Gly) c.13849T>G (p.Cys4617Gly) | |
| 19 | g.38572209G>A | CA081038 | RYR1 | c.873G>A c.2270G>A c.2242G>A c.13937G>A (p.Cys4646Tyr) c.13922G>A (p.Cys4641Tyr) c.13919G>A (p.Cys4640Tyr) c.397G>A c.13904G>A (p.Cys4635Tyr) c.13934G>A (p.Cys4645Tyr) c.13850G>A (p.Cys4617Tyr) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38572209G>C | CA405681215 | RYR1 | c.873G>C c.2270G>C c.2242G>C c.13937G>C (p.Cys4646Ser) c.13922G>C (p.Cys4641Ser) c.13919G>C (p.Cys4640Ser) c.397G>C c.13904G>C (p.Cys4635Ser) c.13934G>C (p.Cys4645Ser) c.13850G>C (p.Cys4617Ser) | |
| 19 | g.38572209G>T | CA405681212 | RYR1 | c.873G>T c.2270G>T c.2242G>T c.13937G>T (p.Cys4646Phe) c.13922G>T (p.Cys4641Phe) c.13919G>T (p.Cys4640Phe) c.397G>T c.13904G>T (p.Cys4635Phe) c.13934G>T (p.Cys4645Phe) c.13850G>T (p.Cys4617Phe) | |
| 19 | g.38572210_38572215del | CA2830782551 | RYR1 | c.874_879del c.2271_2276del c.2243_2248del c.13938_13943del (p.Leu4647_Ser4648del) c.13923_13928del (p.Leu4642_Ser4643del) c.13920_13925del (p.Leu4641_Ser4642del) c.398_403del c.13905_13910del (p.Leu4636_Ser4637del) c.13935_13940del (p.Leu4646_Ser4647del) c.13851_13856del (p.Leu4618_Ser4619del) | |
| 19 | g.38572210T>A | CA405681218 | RYR1 | c.874T>A c.2271T>A c.2243T>A c.13938T>A (p.Cys4646Ter) c.13923T>A (p.Cys4641Ter) c.13920T>A (p.Cys4640Ter) c.398T>A c.13905T>A (p.Cys4635Ter) c.13935T>A (p.Cys4645Ter) c.13851T>A (p.Cys4617Ter) | |
| 19 | g.38572210T>C | CA507356177 | RYR1 | c.874T>C c.2271T>C c.2243T>C c.13938T>C (p.Cys4646=) c.13923T>C (p.Cys4641=) c.13920T>C (p.Cys4640=) c.398T>C c.13905T>C (p.Cys4635=) c.13935T>C (p.Cys4645=) c.13851T>C (p.Cys4617=) | dbSNP |
| 19 | g.38572210T>G | CA405681228 | RYR1 | c.874T>G c.2271T>G c.2243T>G c.13938T>G (p.Cys4646Trp) c.13923T>G (p.Cys4641Trp) c.13920T>G (p.Cys4640Trp) c.398T>G c.13905T>G (p.Cys4635Trp) c.13935T>G (p.Cys4645Trp) c.13851T>G (p.Cys4617Trp) | |
| 19 | g.38572210_38572216delinsTCTGAGC | CA2335088447 | RYR1 | c.874_880delinsTCTGAGC c.2271_2277delinsTCTGAGC c.2243_2249delinsTCTGAGC c.13938_13944delinsTCTGAGC (p.Cys4646=) c.13923_13929delinsTCTGAGC (p.Cys4641=) c.13920_13926delinsTCTGAGC (p.Cys4640=) c.398_404delinsTCTGAGC c.13905_13911delinsTCTGAGC (p.Cys4635=) c.13935_13941delinsTCTGAGC (p.Cys4645=) c.13851_13857delinsTCTGAGC (p.Cys4617=) | |
| 19 | g.38572211C>A | CA405681234 | RYR1 | c.875C>A c.2272C>A c.2244C>A c.13939C>A (p.Leu4647Met) c.13924C>A (p.Leu4642Met) c.13921C>A (p.Leu4641Met) c.399C>A c.13906C>A (p.Leu4636Met) c.13936C>A (p.Leu4646Met) c.13852C>A (p.Leu4618Met) | |
| 19 | g.38572211C>G | CA405681235 | RYR1 | c.875C>G c.2272C>G c.2244C>G c.13939C>G (p.Leu4647Val) c.13924C>G (p.Leu4642Val) c.13921C>G (p.Leu4641Val) c.399C>G c.13906C>G (p.Leu4636Val) c.13936C>G (p.Leu4646Val) c.13852C>G (p.Leu4618Val) | |
| 19 | g.38572211C>T | CA507356182 | RYR1 | c.875C>T c.2272C>T c.2244C>T c.13939C>T (p.Leu4647=) c.13924C>T (p.Leu4642=) c.13921C>T (p.Leu4641=) c.399C>T c.13906C>T (p.Leu4636=) c.13936C>T (p.Leu4646=) c.13852C>T (p.Leu4618=) | dbSNP |
| 19 | g.38572213_38572218del | CA024088 | RYR1 | c.877_882del c.2274_2279del c.2246_2251del c.13941_13946del (p.Ser4648_Leu4649del) c.13926_13931del (p.Ser4643_Leu4644del) c.13923_13928del (p.Ser4642_Leu4643del) c.401_406del c.13908_13913del (p.Ser4637_Leu4638del) c.13938_13943del (p.Ser4647_Leu4648del) c.13854_13859del (p.Ser4619_Leu4620del) | ClinVar dbSNP |
| 19 | g.38572212T>A | CA405681236 | RYR1 | c.876T>A c.2273T>A c.2245T>A c.13940T>A (p.Leu4647Gln) c.13925T>A (p.Leu4642Gln) c.13922T>A (p.Leu4641Gln) c.400T>A c.13907T>A (p.Leu4636Gln) c.13937T>A (p.Leu4646Gln) c.13853T>A (p.Leu4618Gln) | |
| 19 | g.38572212T>C | CA405681239 | RYR1 | c.876T>C c.2273T>C c.2245T>C c.13940T>C (p.Leu4647Pro) c.13925T>C (p.Leu4642Pro) c.13922T>C (p.Leu4641Pro) c.400T>C c.13907T>C (p.Leu4636Pro) c.13937T>C (p.Leu4646Pro) c.13853T>C (p.Leu4618Pro) | ClinVar dbSNP |
| 19 | g.38572212T>G | CA405681243 | RYR1 | c.876T>G c.2273T>G c.2245T>G c.13940T>G (p.Leu4647Arg) c.13925T>G (p.Leu4642Arg) c.13922T>G (p.Leu4641Arg) c.400T>G c.13907T>G (p.Leu4636Arg) c.13937T>G (p.Leu4646Arg) c.13853T>G (p.Leu4618Arg) | |
| 19 | g.38572212T= | CA2335088448 | RYR1 | c.876T= c.2273T= c.2245T= c.13940T= (p.Leu4647=) c.13925T= (p.Leu4642=) c.13922T= (p.Leu4641=) c.400T= c.13907T= (p.Leu4636=) c.13937T= (p.Leu4646=) c.13853T= (p.Leu4618=) | |
| 19 | g.38572213G>A | CA507356184 | RYR1 | c.877G>A c.2274G>A c.2246G>A c.13941G>A (p.Leu4647=) c.13926G>A (p.Leu4642=) c.13923G>A (p.Leu4641=) c.401G>A c.13908G>A (p.Leu4636=) c.13938G>A (p.Leu4646=) c.13854G>A (p.Leu4618=) | |
| 19 | g.38572213G>C | CA507356186 | RYR1 | c.877G>C c.2274G>C c.2246G>C c.13941G>C (p.Leu4647=) c.13926G>C (p.Leu4642=) c.13923G>C (p.Leu4641=) c.401G>C c.13908G>C (p.Leu4636=) c.13938G>C (p.Leu4646=) c.13854G>C (p.Leu4618=) | |
| 19 | g.38572213G>T | CA507356187 | RYR1 | c.877G>T c.2274G>T c.2246G>T c.13941G>T (p.Leu4647=) c.13926G>T (p.Leu4642=) c.13923G>T (p.Leu4641=) c.401G>T c.13908G>T (p.Leu4636=) c.13938G>T (p.Leu4646=) c.13854G>T (p.Leu4618=) | |
| 19 | g.38572213_38572218delinsCTGAGC | CA308114154 | RYR1 | c.877_882delinsCTGAGC c.2274_2279delinsCTGAGC c.2246_2251delinsCTGAGC c.13941_13946delinsCTGAGC (p.Leu4648Ter) c.13926_13931delinsCTGAGC (p.Leu4643Ter) c.13923_13928delinsCTGAGC (p.Leu4642Ter) c.401_406delinsCTGAGC c.13908_13913delinsCTGAGC (p.Leu4637Ter) c.13938_13943delinsCTGAGC (p.Leu4647Ter) c.13854_13859delinsCTGAGC (p.Leu4619Ter) | |
| 19 | g.38572214A>C | CA405681259 | RYR1 | c.878A>C c.2275A>C c.2247A>C c.13942A>C (p.Ser4648Arg) c.13927A>C (p.Ser4643Arg) c.13924A>C (p.Ser4642Arg) c.402A>C c.13909A>C (p.Ser4637Arg) c.13939A>C (p.Ser4647Arg) c.13855A>C (p.Ser4619Arg) | |
| 19 | g.38572214A>G | CA405681254 | RYR1 | c.878A>G c.2275A>G c.2247A>G c.13942A>G (p.Ser4648Gly) c.13927A>G (p.Ser4643Gly) c.13924A>G (p.Ser4642Gly) c.402A>G c.13909A>G (p.Ser4637Gly) c.13939A>G (p.Ser4647Gly) c.13855A>G (p.Ser4619Gly) | |
| 19 | g.38572214A>T | CA405681257 | RYR1 | c.878A>T c.2275A>T c.2247A>T c.13942A>T (p.Ser4648Cys) c.13927A>T (p.Ser4643Cys) c.13924A>T (p.Ser4642Cys) c.402A>T c.13909A>T (p.Ser4637Cys) c.13939A>T (p.Ser4647Cys) c.13855A>T (p.Ser4619Cys) | dbSNP |
| 19 | g.38572215G>A | CA405681264 | RYR1 | c.879G>A c.2276G>A c.2248G>A c.13943G>A (p.Ser4648Asn) c.13928G>A (p.Ser4643Asn) c.13925G>A (p.Ser4642Asn) c.403G>A c.13910G>A (p.Ser4637Asn) c.13940G>A (p.Ser4647Asn) c.13856G>A (p.Ser4619Asn) | |
| 19 | g.38572215G>C | CA405681267 | RYR1 | c.879G>C c.2276G>C c.2248G>C c.13943G>C (p.Ser4648Thr) c.13928G>C (p.Ser4643Thr) c.13925G>C (p.Ser4642Thr) c.403G>C c.13910G>C (p.Ser4637Thr) c.13940G>C (p.Ser4647Thr) c.13856G>C (p.Ser4619Thr) | |
| 19 | g.38572215G>T | CA405681271 | RYR1 | c.879G>T c.2276G>T c.2248G>T c.13943G>T (p.Ser4648Ile) c.13928G>T (p.Ser4643Ile) c.13925G>T (p.Ser4642Ile) c.403G>T c.13910G>T (p.Ser4637Ile) c.13940G>T (p.Ser4647Ile) c.13856G>T (p.Ser4619Ile) | gnomAD v4 |
| 19 | g.38572216C>A | CA405681275 | RYR1 | c.880C>A c.2277C>A c.2249C>A c.13944C>A (p.Ser4648Arg) c.13929C>A (p.Ser4643Arg) c.13926C>A (p.Ser4642Arg) c.404C>A c.13911C>A (p.Ser4637Arg) c.13941C>A (p.Ser4647Arg) c.13857C>A (p.Ser4619Arg) | |
| 19 | g.38572216C>G | CA405681276 | RYR1 | c.880C>G c.2277C>G c.2249C>G c.13944C>G (p.Ser4648Arg) c.13929C>G (p.Ser4643Arg) c.13926C>G (p.Ser4642Arg) c.404C>G c.13911C>G (p.Ser4637Arg) c.13941C>G (p.Ser4647Arg) c.13857C>G (p.Ser4619Arg) | |
| 19 | g.38572216C>T | CA507356188 | RYR1 | c.880C>T c.2277C>T c.2249C>T c.13944C>T (p.Ser4648=) c.13929C>T (p.Ser4643=) c.13926C>T (p.Ser4642=) c.404C>T c.13911C>T (p.Ser4637=) c.13941C>T (p.Ser4647=) c.13857C>T (p.Ser4619=) | |
| 19 | g.38572217C>A | CA405681280 | RYR1 | c.881C>A c.2278C>A c.2250C>A c.13945C>A (p.Leu4649Ile) c.13930C>A (p.Leu4644Ile) c.13927C>A (p.Leu4643Ile) c.405C>A c.13912C>A (p.Leu4638Ile) c.13942C>A (p.Leu4648Ile) c.13858C>A (p.Leu4620Ile) | |
| 19 | g.38572217C= | CA2335088449 | RYR1 | c.881C= c.2278C= c.2250C= c.13945C= (p.Leu4649=) c.13930C= (p.Leu4644=) c.13927C= (p.Leu4643=) c.405C= c.13912C= (p.Leu4638=) c.13942C= (p.Leu4648=) c.13858C= (p.Leu4620=) | |
| 19 | g.38572217C>G | CA405681286 | RYR1 | c.881C>G c.2278C>G c.2250C>G c.13945C>G (p.Leu4649Val) c.13930C>G (p.Leu4644Val) c.13927C>G (p.Leu4643Val) c.405C>G c.13912C>G (p.Leu4638Val) c.13942C>G (p.Leu4648Val) c.13858C>G (p.Leu4620Val) | |
| 19 | g.38572217C>T | CA308114165 | RYR1 | c.881C>T c.2278C>T c.2250C>T c.13945C>T (p.Leu4649Phe) c.13930C>T (p.Leu4644Phe) c.13927C>T (p.Leu4643Phe) c.405C>T c.13912C>T (p.Leu4638Phe) c.13942C>T (p.Leu4648Phe) c.13858C>T (p.Leu4620Phe) | dbSNP |
| 19 | g.38572218T>A | CA405681289 | RYR1 | c.882T>A c.2279T>A c.2251T>A c.13946T>A (p.Leu4649His) c.13931T>A (p.Leu4644His) c.13928T>A (p.Leu4643His) c.406T>A c.13913T>A (p.Leu4638His) c.13943T>A (p.Leu4648His) c.13859T>A (p.Leu4620His) | |
| 19 | g.38572218T>C | CA405681291 | RYR1 | c.882T>C c.2279T>C c.2251T>C c.13946T>C (p.Leu4649Pro) c.13931T>C (p.Leu4644Pro) c.13928T>C (p.Leu4643Pro) c.406T>C c.13913T>C (p.Leu4638Pro) c.13943T>C (p.Leu4648Pro) c.13859T>C (p.Leu4620Pro) | |
| 19 | g.38572218T>G | CA405681294 | RYR1 | c.882T>G c.2279T>G c.2251T>G c.13946T>G (p.Leu4649Arg) c.13931T>G (p.Leu4644Arg) c.13928T>G (p.Leu4643Arg) c.406T>G c.13913T>G (p.Leu4638Arg) c.13943T>G (p.Leu4648Arg) c.13859T>G (p.Leu4620Arg) | |
| 19 | g.38572219C>A | CA507356193 | RYR1 | c.883C>A c.2280C>A c.2252C>A c.13947C>A (p.Leu4649=) c.13932C>A (p.Leu4644=) c.13929C>A (p.Leu4643=) c.407C>A c.13914C>A (p.Leu4638=) c.13944C>A (p.Leu4648=) c.13860C>A (p.Leu4620=) | |
| 19 | g.38572219C= | CA2335088450 | RYR1 | c.883C= c.2280C= c.2252C= c.13947C= (p.Leu4649=) c.13932C= (p.Leu4644=) c.13929C= (p.Leu4643=) c.407C= c.13914C= (p.Leu4638=) c.13944C= (p.Leu4648=) c.13860C= (p.Leu4620=) | |
| 19 | g.38572219C>G | CA507356195 | RYR1 | c.883C>G c.2280C>G c.2252C>G c.13947C>G (p.Leu4649=) c.13932C>G (p.Leu4644=) c.13929C>G (p.Leu4643=) c.407C>G c.13914C>G (p.Leu4638=) c.13944C>G (p.Leu4648=) c.13860C>G (p.Leu4620=) | dbSNP gnomAD v2 |
| 19 | g.38572219C>T | CA507356196 | RYR1 | c.883C>T c.2280C>T c.2252C>T c.13947C>T (p.Leu4649=) c.13932C>T (p.Leu4644=) c.13929C>T (p.Leu4643=) c.407C>T c.13914C>T (p.Leu4638=) c.13944C>T (p.Leu4648=) c.13860C>T (p.Leu4620=) | dbSNP |
| 19 | g.38572220C>A | CA405681295 | RYR1 | c.884C>A c.2281C>A c.2253C>A c.13948C>A (p.Leu4650Met) c.13933C>A (p.Leu4645Met) c.13930C>A (p.Leu4644Met) c.408C>A c.13915C>A (p.Leu4639Met) c.13945C>A (p.Leu4649Met) c.13861C>A (p.Leu4621Met) | dbSNP gnomAD v4 |
| 19 | g.38572220C= | CA2335088451 | RYR1 | c.884C= c.2281C= c.2253C= c.13948C= (p.Leu4650=) c.13933C= (p.Leu4645=) c.13930C= (p.Leu4644=) c.408C= c.13915C= (p.Leu4639=) c.13945C= (p.Leu4649=) c.13861C= (p.Leu4621=) | |
| 19 | g.38572220C>G | CA405681296 | RYR1 | c.884C>G c.2281C>G c.2253C>G c.13948C>G (p.Leu4650Val) c.13933C>G (p.Leu4645Val) c.13930C>G (p.Leu4644Val) c.408C>G c.13915C>G (p.Leu4639Val) c.13945C>G (p.Leu4649Val) c.13861C>G (p.Leu4621Val) | |
| 19 | g.38572220C>T | CA507356197 | RYR1 | c.884C>T c.2281C>T c.2253C>T c.13948C>T (p.Leu4650=) c.13933C>T (p.Leu4645=) c.13930C>T (p.Leu4644=) c.408C>T c.13915C>T (p.Leu4639=) c.13945C>T (p.Leu4649=) c.13861C>T (p.Leu4621=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38572221T>A | CA405681297 | RYR1 | c.885T>A c.2282T>A c.2254T>A c.13949T>A (p.Leu4650Gln) c.13934T>A (p.Leu4645Gln) c.13931T>A (p.Leu4644Gln) c.409T>A c.13916T>A (p.Leu4639Gln) c.13946T>A (p.Leu4649Gln) c.13862T>A (p.Leu4621Gln) | |
| 19 | g.38572221T>C | CA024091 | RYR1 | c.885T>C c.2282T>C c.2254T>C c.13949T>C (p.Leu4650Pro) c.13934T>C (p.Leu4645Pro) c.13931T>C (p.Leu4644Pro) c.409T>C c.13916T>C (p.Leu4639Pro) c.13946T>C (p.Leu4649Pro) c.13862T>C (p.Leu4621Pro) | ClinVar dbSNP |
| 19 | g.38572221T>G | CA405681298 | RYR1 | c.885T>G c.2282T>G c.2254T>G c.13949T>G (p.Leu4650Arg) c.13934T>G (p.Leu4645Arg) c.13931T>G (p.Leu4644Arg) c.409T>G c.13916T>G (p.Leu4639Arg) c.13946T>G (p.Leu4649Arg) c.13862T>G (p.Leu4621Arg) | |
| 19 | g.38572221T= | CA2335088452 | RYR1 | c.885T= c.2282T= c.2254T= c.13949T= (p.Leu4650=) c.13934T= (p.Leu4645=) c.13931T= (p.Leu4644=) c.409T= c.13916T= (p.Leu4639=) c.13946T= (p.Leu4649=) c.13862T= (p.Leu4621=) | |
| 19 | g.38572222G>A | CA507356199 | RYR1 | c.886G>A c.2283G>A c.2255G>A c.13950G>A (p.Leu4650=) c.13935G>A (p.Leu4645=) c.13932G>A (p.Leu4644=) c.410G>A c.13917G>A (p.Leu4639=) c.13947G>A (p.Leu4649=) c.13863G>A (p.Leu4621=) | COSMIC |
| 19 | g.38572222G>C | CA507356200 | RYR1 | c.886G>C c.2283G>C c.2255G>C c.13950G>C (p.Leu4650=) c.13935G>C (p.Leu4645=) c.13932G>C (p.Leu4644=) c.410G>C c.13917G>C (p.Leu4639=) c.13947G>C (p.Leu4649=) c.13863G>C (p.Leu4621=) | |
| 19 | g.38572222G>T | CA507356201 | RYR1 | c.886G>T c.2283G>T c.2255G>T c.13950G>T (p.Leu4650=) c.13935G>T (p.Leu4645=) c.13932G>T (p.Leu4644=) c.410G>T c.13917G>T (p.Leu4639=) c.13947G>T (p.Leu4649=) c.13863G>T (p.Leu4621=) | COSMIC |
| 19 | g.38572223C>A | CA405681304 | RYR1 | c.887C>A c.2284C>A c.2256C>A c.13951C>A (p.His4651Asn) c.13936C>A (p.His4646Asn) c.13933C>A (p.His4645Asn) c.411C>A c.13918C>A (p.His4640Asn) c.13948C>A (p.His4650Asn) c.13864C>A (p.His4622Asn) | |
| 19 | g.38572223C>G | CA405681305 | RYR1 | c.887C>G c.2284C>G c.2256C>G c.13951C>G (p.His4651Asp) c.13936C>G (p.His4646Asp) c.13933C>G (p.His4645Asp) c.411C>G c.13918C>G (p.His4640Asp) c.13948C>G (p.His4650Asp) c.13864C>G (p.His4622Asp) | |
| 19 | g.38572223C>T | CA405681307 | RYR1 | c.887C>T c.2284C>T c.2256C>T c.13951C>T (p.His4651Tyr) c.13936C>T (p.His4646Tyr) c.13933C>T (p.His4645Tyr) c.411C>T c.13918C>T (p.His4640Tyr) c.13948C>T (p.His4650Tyr) c.13864C>T (p.His4622Tyr) | |
| 19 | g.38572224A= | CA2335088453 | RYR1 | c.888A= c.2285A= c.2257A= c.13952A= (p.His4651=) c.13937A= (p.His4646=) c.13934A= (p.His4645=) c.412A= c.13919A= (p.His4640=) c.13949A= (p.His4650=) c.13865A= (p.His4622=) | |
| 19 | g.38572224A>C | CA024093 | RYR1 | c.888A>C c.2285A>C c.2257A>C c.13952A>C (p.His4651Pro) c.13937A>C (p.His4646Pro) c.13934A>C (p.His4645Pro) c.412A>C c.13919A>C (p.His4640Pro) c.13949A>C (p.His4650Pro) c.13865A>C (p.His4622Pro) | ClinVar dbSNP |
| 19 | g.38572224A>G | CA405681310 | RYR1 | c.888A>G c.2285A>G c.2257A>G c.13952A>G (p.His4651Arg) c.13937A>G (p.His4646Arg) c.13934A>G (p.His4645Arg) c.412A>G c.13919A>G (p.His4640Arg) c.13949A>G (p.His4650Arg) c.13865A>G (p.His4622Arg) | ClinVar dbSNP |
| 19 | g.38572224A>T | CA405681314 | RYR1 | c.888A>T c.2285A>T c.2257A>T c.13952A>T (p.His4651Leu) c.13937A>T (p.His4646Leu) c.13934A>T (p.His4645Leu) c.412A>T c.13919A>T (p.His4640Leu) c.13949A>T (p.His4650Leu) c.13865A>T (p.His4622Leu) | |
| 19 | g.38572225T>A | CA405681320 | RYR1 | c.889T>A c.2286T>A c.2258T>A c.13953T>A (p.His4651Gln) c.13938T>A (p.His4646Gln) c.13935T>A (p.His4645Gln) c.413T>A c.13920T>A (p.His4640Gln) c.13950T>A (p.His4650Gln) c.13866T>A (p.His4622Gln) | |
| 19 | g.38572225T>C | CA507356207 | RYR1 | c.889T>C c.2286T>C c.2258T>C c.13953T>C (p.His4651=) c.13938T>C (p.His4646=) c.13935T>C (p.His4645=) c.413T>C c.13920T>C (p.His4640=) c.13950T>C (p.His4650=) c.13866T>C (p.His4622=) | |
| 19 | g.38572225T>G | CA405681323 | RYR1 | c.889T>G c.2286T>G c.2258T>G c.13953T>G (p.His4651Gln) c.13938T>G (p.His4646Gln) c.13935T>G (p.His4645Gln) c.413T>G c.13920T>G (p.His4640Gln) c.13950T>G (p.His4650Gln) c.13866T>G (p.His4622Gln) | |
| 19 | g.38572226A>C | CA405681327 | RYR1 | c.890A>C c.2287A>C c.2259A>C c.13954A>C (p.Thr4652Pro) c.13939A>C (p.Thr4647Pro) c.13936A>C (p.Thr4646Pro) c.414A>C c.13921A>C (p.Thr4641Pro) c.13951A>C (p.Thr4651Pro) c.13867A>C (p.Thr4623Pro) | |
| 19 | g.38572226A>G | CA405681332 | RYR1 | c.890A>G c.2287A>G c.2259A>G c.13954A>G (p.Thr4652Ala) c.13939A>G (p.Thr4647Ala) c.13936A>G (p.Thr4646Ala) c.414A>G c.13921A>G (p.Thr4641Ala) c.13951A>G (p.Thr4651Ala) c.13867A>G (p.Thr4623Ala) | |
| 19 | g.38572226A>T | CA405681335 | RYR1 | c.890A>T c.2287A>T c.2259A>T c.13954A>T (p.Thr4652Ser) c.13939A>T (p.Thr4647Ser) c.13936A>T (p.Thr4646Ser) c.414A>T c.13921A>T (p.Thr4641Ser) c.13951A>T (p.Thr4651Ser) c.13867A>T (p.Thr4623Ser) | |
| 19 | g.38572227C>A | CA405681339 | RYR1 | c.891C>A c.2288C>A c.2260C>A c.13955C>A (p.Thr4652Lys) c.13940C>A (p.Thr4647Lys) c.13937C>A (p.Thr4646Lys) c.415C>A c.13922C>A (p.Thr4641Lys) c.13952C>A (p.Thr4651Lys) c.13868C>A (p.Thr4623Lys) | |
| 19 | g.38572227C>G | CA405681342 | RYR1 | c.891C>G c.2288C>G c.2260C>G c.13955C>G (p.Thr4652Arg) c.13940C>G (p.Thr4647Arg) c.13937C>G (p.Thr4646Arg) c.415C>G c.13922C>G (p.Thr4641Arg) c.13952C>G (p.Thr4651Arg) c.13868C>G (p.Thr4623Arg) | |
| 19 | g.38572227C>T | CA405681344 | RYR1 | c.891C>T c.2288C>T c.2260C>T c.13955C>T (p.Thr4652Ile) c.13940C>T (p.Thr4647Ile) c.13937C>T (p.Thr4646Ile) c.415C>T c.13922C>T (p.Thr4641Ile) c.13952C>T (p.Thr4651Ile) c.13868C>T (p.Thr4623Ile) | ClinVar |
| 19 | g.38572228A= | CA2335088454 | RYR1 | c.892A= c.2289A= c.2261A= c.13956A= (p.Thr4652=) c.13941A= (p.Thr4647=) c.13938A= (p.Thr4646=) c.416A= c.13923A= (p.Thr4641=) c.13953A= (p.Thr4651=) c.13869A= (p.Thr4623=) | |
| 19 | g.38572228A>C | CA507356211 | RYR1 | c.892A>C c.2289A>C c.2261A>C c.13956A>C (p.Thr4652=) c.13941A>C (p.Thr4647=) c.13938A>C (p.Thr4646=) c.416A>C c.13923A>C (p.Thr4641=) c.13953A>C (p.Thr4651=) c.13869A>C (p.Thr4623=) | |
| 19 | g.38572228A>G | CA507356210 | RYR1 | c.892A>G c.2289A>G c.2261A>G c.13956A>G (p.Thr4652=) c.13941A>G (p.Thr4647=) c.13938A>G (p.Thr4646=) c.416A>G c.13923A>G (p.Thr4641=) c.13953A>G (p.Thr4651=) c.13869A>G (p.Thr4623=) | dbSNP |
| 19 | g.38572228A>T | CA507356209 | RYR1 | c.892A>T c.2289A>T c.2261A>T c.13956A>T (p.Thr4652=) c.13941A>T (p.Thr4647=) c.13938A>T (p.Thr4646=) c.416A>T c.13923A>T (p.Thr4641=) c.13953A>T (p.Thr4651=) c.13869A>T (p.Thr4623=) | |
| 19 | g.38572229C>A | CA405681348 | RYR1 | c.893C>A c.2290C>A c.2262C>A c.13957C>A (p.Leu4653Met) c.13942C>A (p.Leu4648Met) c.13939C>A (p.Leu4647Met) c.417C>A c.13924C>A (p.Leu4642Met) c.13954C>A (p.Leu4652Met) c.13870C>A (p.Leu4624Met) | |
| 19 | g.38572229C>G | CA405681361 | RYR1 | c.893C>G c.2290C>G c.2262C>G c.13957C>G (p.Leu4653Val) c.13942C>G (p.Leu4648Val) c.13939C>G (p.Leu4647Val) c.417C>G c.13924C>G (p.Leu4642Val) c.13954C>G (p.Leu4652Val) c.13870C>G (p.Leu4624Val) | |
| 19 | g.38572229C>T | CA507356214 | RYR1 | c.893C>T c.2290C>T c.2262C>T c.13957C>T (p.Leu4653=) c.13942C>T (p.Leu4648=) c.13939C>T (p.Leu4647=) c.417C>T c.13924C>T (p.Leu4642=) c.13954C>T (p.Leu4652=) c.13870C>T (p.Leu4624=) | |
| 19 | g.38572230T>A | CA405681367 | RYR1 | c.894T>A c.2291T>A c.2263T>A c.13958T>A (p.Leu4653Gln) c.13943T>A (p.Leu4648Gln) c.13940T>A (p.Leu4647Gln) c.418T>A c.13925T>A (p.Leu4642Gln) c.13955T>A (p.Leu4652Gln) c.13871T>A (p.Leu4624Gln) | |
| 19 | g.38572230T>C | CA405681373 | RYR1 | c.894T>C c.2291T>C c.2263T>C c.13958T>C (p.Leu4653Pro) c.13943T>C (p.Leu4648Pro) c.13940T>C (p.Leu4647Pro) c.418T>C c.13925T>C (p.Leu4642Pro) c.13955T>C (p.Leu4652Pro) c.13871T>C (p.Leu4624Pro) | |
| 19 | g.38572230T>G | CA405681376 | RYR1 | c.894T>G c.2291T>G c.2263T>G c.13958T>G (p.Leu4653Arg) c.13943T>G (p.Leu4648Arg) c.13940T>G (p.Leu4647Arg) c.418T>G c.13925T>G (p.Leu4642Arg) c.13955T>G (p.Leu4652Arg) c.13871T>G (p.Leu4624Arg) | |
| 19 | g.38572231G>A | CA507356215 | RYR1 | c.895G>A c.2292G>A c.2264G>A c.13959G>A (p.Leu4653=) c.13944G>A (p.Leu4648=) c.13941G>A (p.Leu4647=) c.419G>A c.13926G>A (p.Leu4642=) c.13956G>A (p.Leu4652=) c.13872G>A (p.Leu4624=) | dbSNP |
| 19 | g.38572231G>C | CA507356216 | RYR1 | c.895G>C c.2292G>C c.2264G>C c.13959G>C (p.Leu4653=) c.13944G>C (p.Leu4648=) c.13941G>C (p.Leu4647=) c.419G>C c.13926G>C (p.Leu4642=) c.13956G>C (p.Leu4652=) c.13872G>C (p.Leu4624=) | |
| 19 | g.38572231G= | CA2335088455 | RYR1 | c.895G= c.2292G= c.2264G= c.13959G= (p.Leu4653=) c.13944G= (p.Leu4648=) c.13941G= (p.Leu4647=) c.419G= c.13926G= (p.Leu4642=) c.13956G= (p.Leu4652=) c.13872G= (p.Leu4624=) | |
| 19 | g.38572231G>T | CA507356218 | RYR1 | c.895G>T c.2292G>T c.2264G>T c.13959G>T (p.Leu4653=) c.13944G>T (p.Leu4648=) c.13941G>T (p.Leu4647=) c.419G>T c.13926G>T (p.Leu4642=) c.13956G>T (p.Leu4652=) c.13872G>T (p.Leu4624=) | |
| 19 | g.38572232G>A | CA405681387 | RYR1 | c.896G>A c.2293G>A c.2265G>A c.13960G>A (p.Val4654Met) c.13945G>A (p.Val4649Met) c.13942G>A (p.Val4648Met) c.420G>A c.13927G>A (p.Val4643Met) c.13957G>A (p.Val4653Met) c.13873G>A (p.Val4625Met) | COSMIC |
| 19 | g.38572232G>C | CA405681379 | RYR1 | c.896G>C c.2293G>C c.2265G>C c.13960G>C (p.Val4654Leu) c.13945G>C (p.Val4649Leu) c.13942G>C (p.Val4648Leu) c.420G>C c.13927G>C (p.Val4643Leu) c.13957G>C (p.Val4653Leu) c.13873G>C (p.Val4625Leu) | |
| 19 | g.38572232G>T | CA405681384 | RYR1 | c.896G>T c.2293G>T c.2265G>T c.13960G>T (p.Val4654Leu) c.13945G>T (p.Val4649Leu) c.13942G>T (p.Val4648Leu) c.420G>T c.13927G>T (p.Val4643Leu) c.13957G>T (p.Val4653Leu) c.13873G>T (p.Val4625Leu) | |
| 19 | g.38572233T>A | CA405681389 | RYR1 | c.897T>A c.2294T>A c.2266T>A c.13961T>A (p.Val4654Glu) c.13946T>A (p.Val4649Glu) c.13943T>A (p.Val4648Glu) c.421T>A c.13928T>A (p.Val4643Glu) c.13958T>A (p.Val4653Glu) c.13874T>A (p.Val4625Glu) | |
| 19 | g.38572233T>C | CA405681405 | RYR1 | c.897T>C c.2294T>C c.2266T>C c.13961T>C (p.Val4654Ala) c.13946T>C (p.Val4649Ala) c.13943T>C (p.Val4648Ala) c.421T>C c.13928T>C (p.Val4643Ala) c.13958T>C (p.Val4653Ala) c.13874T>C (p.Val4625Ala) | gnomAD v4 |
| 19 | g.38572233T>G | CA405681409 | RYR1 | c.897T>G c.2294T>G c.2266T>G c.13961T>G (p.Val4654Gly) c.13946T>G (p.Val4649Gly) c.13943T>G (p.Val4648Gly) c.421T>G c.13928T>G (p.Val4643Gly) c.13958T>G (p.Val4653Gly) c.13874T>G (p.Val4625Gly) | gnomAD v4 |
| 19 | g.38572234G>A | CA507356221 | RYR1 | c.898G>A c.2295G>A c.2267G>A c.13962G>A (p.Val4654=) c.13947G>A (p.Val4649=) c.13944G>A (p.Val4648=) c.422G>A c.13929G>A (p.Val4643=) c.13959G>A (p.Val4653=) c.13875G>A (p.Val4625=) | dbSNP |
| 19 | g.38572234G>C | CA507356223 | RYR1 | c.898G>C c.2295G>C c.2267G>C c.13962G>C (p.Val4654=) c.13947G>C (p.Val4649=) c.13944G>C (p.Val4648=) c.422G>C c.13929G>C (p.Val4643=) c.13959G>C (p.Val4653=) c.13875G>C (p.Val4625=) | |
| 19 | g.38572234G= | CA2335088456 | RYR1 | c.898G= c.2295G= c.2267G= c.13962G= (p.Val4654=) c.13947G= (p.Val4649=) c.13944G= (p.Val4648=) c.422G= c.13929G= (p.Val4643=) c.13959G= (p.Val4653=) c.13875G= (p.Val4625=) | |
| 19 | g.38572234G>T | CA507356222 | RYR1 | c.898G>T c.2295G>T c.2267G>T c.13962G>T (p.Val4654=) c.13947G>T (p.Val4649=) c.13944G>T (p.Val4648=) c.422G>T c.13929G>T (p.Val4643=) c.13959G>T (p.Val4653=) c.13875G>T (p.Val4625=) | |
| 19 | g.38572235G>A | CA405681412 | RYR1 | c.899G>A c.2296G>A c.2268G>A c.13963G>A (p.Ala4655Thr) c.13948G>A (p.Ala4650Thr) c.13945G>A (p.Ala4649Thr) c.423G>A c.13930G>A (p.Ala4644Thr) c.13960G>A (p.Ala4654Thr) c.13876G>A (p.Ala4626Thr) | |
| 19 | g.38572235G>C | CA405681415 | RYR1 | c.899G>C c.2296G>C c.2268G>C c.13963G>C (p.Ala4655Pro) c.13948G>C (p.Ala4650Pro) c.13945G>C (p.Ala4649Pro) c.423G>C c.13930G>C (p.Ala4644Pro) c.13960G>C (p.Ala4654Pro) c.13876G>C (p.Ala4626Pro) | |
| 19 | g.38572235G>T | CA405681417 | RYR1 | c.899G>T c.2296G>T c.2268G>T c.13963G>T (p.Ala4655Ser) c.13948G>T (p.Ala4650Ser) c.13945G>T (p.Ala4649Ser) c.423G>T c.13930G>T (p.Ala4644Ser) c.13960G>T (p.Ala4654Ser) c.13876G>T (p.Ala4626Ser) | gnomAD v4 COSMIC |
| 19 | g.38572236C>A | CA405681421 | RYR1 | c.900C>A c.2297C>A c.2269C>A c.13964C>A (p.Ala4655Asp) c.13949C>A (p.Ala4650Asp) c.13946C>A (p.Ala4649Asp) c.424C>A c.13931C>A (p.Ala4644Asp) c.13961C>A (p.Ala4654Asp) c.13877C>A (p.Ala4626Asp) | |
| 19 | g.38572236C>G | CA405681424 | RYR1 | c.900C>G c.2297C>G c.2269C>G c.13964C>G (p.Ala4655Gly) c.13949C>G (p.Ala4650Gly) c.13946C>G (p.Ala4649Gly) c.424C>G c.13931C>G (p.Ala4644Gly) c.13961C>G (p.Ala4654Gly) c.13877C>G (p.Ala4626Gly) | |
| 19 | g.38572236C>T | CA405681436 | RYR1 | c.900C>T c.2297C>T c.2269C>T c.13964C>T (p.Ala4655Val) c.13949C>T (p.Ala4650Val) c.13946C>T (p.Ala4649Val) c.424C>T c.13931C>T (p.Ala4644Val) c.13961C>T (p.Ala4654Val) c.13877C>T (p.Ala4626Val) | |
| 19 | g.38572237C>A | CA507356226 | RYR1 | c.901C>A c.2298C>A c.2270C>A c.13965C>A (p.Ala4655=) c.13950C>A (p.Ala4650=) c.13947C>A (p.Ala4649=) c.425C>A c.13932C>A (p.Ala4644=) c.13962C>A (p.Ala4654=) c.13878C>A (p.Ala4626=) | |
| 19 | g.38572237C= | CA2335088457 | RYR1 | c.901C= c.2298C= c.2270C= c.13965C= (p.Ala4655=) c.13950C= (p.Ala4650=) c.13947C= (p.Ala4649=) c.425C= c.13932C= (p.Ala4644=) c.13962C= (p.Ala4654=) c.13878C= (p.Ala4626=) | |
| 19 | g.38572237C>G | CA507356228 | RYR1 | c.901C>G c.2298C>G c.2270C>G c.13965C>G (p.Ala4655=) c.13950C>G (p.Ala4650=) c.13947C>G (p.Ala4649=) c.425C>G c.13932C>G (p.Ala4644=) c.13962C>G (p.Ala4654=) c.13878C>G (p.Ala4626=) | ClinVar dbSNP |
| 19 | g.38572237C>T | CA507356230 | RYR1 | c.901C>T c.2298C>T c.2270C>T c.13965C>T (p.Ala4655=) c.13950C>T (p.Ala4650=) c.13947C>T (p.Ala4649=) c.425C>T c.13932C>T (p.Ala4644=) c.13962C>T (p.Ala4654=) c.13878C>T (p.Ala4626=) | |
| 19 | g.38572238T>A | CA405681440 | RYR1 | c.902T>A c.2299T>A c.2271T>A c.13966T>A (p.Phe4656Ile) c.13951T>A (p.Phe4651Ile) c.13948T>A (p.Phe4650Ile) c.426T>A c.13933T>A (p.Phe4645Ile) c.13963T>A (p.Phe4655Ile) c.13879T>A (p.Phe4627Ile) | |
| 19 | g.38572238T>C | CA405681442 | RYR1 | c.902T>C c.2299T>C c.2271T>C c.13966T>C (p.Phe4656Leu) c.13951T>C (p.Phe4651Leu) c.13948T>C (p.Phe4650Leu) c.426T>C c.13933T>C (p.Phe4645Leu) c.13963T>C (p.Phe4655Leu) c.13879T>C (p.Phe4627Leu) | |
| 19 | g.38572238T>G | CA405681451 | RYR1 | c.902T>G c.2299T>G c.2271T>G c.13966T>G (p.Phe4656Val) c.13951T>G (p.Phe4651Val) c.13948T>G (p.Phe4650Val) c.426T>G c.13933T>G (p.Phe4645Val) c.13963T>G (p.Phe4655Val) c.13879T>G (p.Phe4627Val) | |
| 19 | g.38572239T>A | CA405681455 | RYR1 | c.903T>A c.2300T>A c.2272T>A c.13967T>A (p.Phe4656Tyr) c.13952T>A (p.Phe4651Tyr) c.13949T>A (p.Phe4650Tyr) c.427T>A c.13934T>A (p.Phe4645Tyr) c.13964T>A (p.Phe4655Tyr) c.13880T>A (p.Phe4627Tyr) | |
| 19 | g.38572239T>C | CA405681461 | RYR1 | c.903T>C c.2300T>C c.2272T>C c.13967T>C (p.Phe4656Ser) c.13952T>C (p.Phe4651Ser) c.13949T>C (p.Phe4650Ser) c.427T>C c.13934T>C (p.Phe4645Ser) c.13964T>C (p.Phe4655Ser) c.13880T>C (p.Phe4627Ser) | |
| 19 | g.38572239T>G | CA405681458 | RYR1 | c.903T>G c.2300T>G c.2272T>G c.13967T>G (p.Phe4656Cys) c.13952T>G (p.Phe4651Cys) c.13949T>G (p.Phe4650Cys) c.427T>G c.13934T>G (p.Phe4645Cys) c.13964T>G (p.Phe4655Cys) c.13880T>G (p.Phe4627Cys) | |
| 19 | g.38572240T>A | CA405681464 | RYR1 | c.904T>A c.2301T>A c.2273T>A c.13968T>A (p.Phe4656Leu) c.13953T>A (p.Phe4651Leu) c.13950T>A (p.Phe4650Leu) c.428T>A c.13935T>A (p.Phe4645Leu) c.13965T>A (p.Phe4655Leu) c.13881T>A (p.Phe4627Leu) | |
| 19 | g.38572240T>C | CA507356233 | RYR1 | c.904T>C c.2301T>C c.2273T>C c.13968T>C (p.Phe4656=) c.13953T>C (p.Phe4651=) c.13950T>C (p.Phe4650=) c.428T>C c.13935T>C (p.Phe4645=) c.13965T>C (p.Phe4655=) c.13881T>C (p.Phe4627=) | |
| 19 | g.38572240T>G | CA405681467 | RYR1 | c.904T>G c.2301T>G c.2273T>G c.13968T>G (p.Phe4656Leu) c.13953T>G (p.Phe4651Leu) c.13950T>G (p.Phe4650Leu) c.428T>G c.13935T>G (p.Phe4645Leu) c.13965T>G (p.Phe4655Leu) c.13881T>G (p.Phe4627Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38572240T= | CA2335088458 | RYR1 | c.904T= c.2301T= c.2273T= c.13968T= (p.Phe4656=) c.13953T= (p.Phe4651=) c.13950T= (p.Phe4650=) c.428T= c.13935T= (p.Phe4645=) c.13965T= (p.Phe4655=) c.13881T= (p.Phe4627=) | |
| 19 | g.38572241del | CA2584910041 | RYR1 | c.905del c.2302del c.2274del c.13969del (p.Leu4657SerfsTer14) c.13954del (p.Leu4652SerfsTer14) c.13951del (p.Leu4651SerfsTer14) c.429del c.13936del (p.Leu4646SerfsTer14) c.13966del (p.Leu4656SerfsTer14) c.13882del (p.Leu4628SerfsTer14) | gnomAD v4 |
| 19 | g.38572241C>A | CA405681470 | RYR1 | c.905C>A c.2302C>A c.2274C>A c.13969C>A (p.Leu4657Ile) c.13954C>A (p.Leu4652Ile) c.13951C>A (p.Leu4651Ile) c.429C>A c.13936C>A (p.Leu4646Ile) c.13966C>A (p.Leu4656Ile) c.13882C>A (p.Leu4628Ile) | |
| 19 | g.38572241C= | CA2335088459 | RYR1 | c.905C= c.2302C= c.2274C= c.13969C= (p.Leu4657=) c.13954C= (p.Leu4652=) c.13951C= (p.Leu4651=) c.429C= c.13936C= (p.Leu4646=) c.13966C= (p.Leu4656=) c.13882C= (p.Leu4628=) | |
| 19 | g.38572241C>G | CA060673 | RYR1 | c.905C>G c.2302C>G c.2274C>G c.13969C>G (p.Leu4657Val) c.13954C>G (p.Leu4652Val) c.13951C>G (p.Leu4651Val) c.429C>G c.13936C>G (p.Leu4646Val) c.13966C>G (p.Leu4656Val) c.13882C>G (p.Leu4628Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38572241C>T | CA405681471 | RYR1 | c.905C>T c.2302C>T c.2274C>T c.13969C>T (p.Leu4657Phe) c.13954C>T (p.Leu4652Phe) c.13951C>T (p.Leu4651Phe) c.429C>T c.13936C>T (p.Leu4646Phe) c.13966C>T (p.Leu4656Phe) c.13882C>T (p.Leu4628Phe) | |
| 19 | g.38572242T>A | CA405681474 | RYR1 | c.906T>A c.2303T>A c.2275T>A c.13970T>A (p.Leu4657His) c.13955T>A (p.Leu4652His) c.13952T>A (p.Leu4651His) c.430T>A c.13937T>A (p.Leu4646His) c.13967T>A (p.Leu4656His) c.13883T>A (p.Leu4628His) | |
| 19 | g.38572242T>C | CA405681476 | RYR1 | c.906T>C c.2303T>C c.2275T>C c.13970T>C (p.Leu4657Pro) c.13955T>C (p.Leu4652Pro) c.13952T>C (p.Leu4651Pro) c.430T>C c.13937T>C (p.Leu4646Pro) c.13967T>C (p.Leu4656Pro) c.13883T>C (p.Leu4628Pro) | |
| 19 | g.38572242T>G | CA405681477 | RYR1 | c.906T>G c.2303T>G c.2275T>G c.13970T>G (p.Leu4657Arg) c.13955T>G (p.Leu4652Arg) c.13952T>G (p.Leu4651Arg) c.430T>G c.13937T>G (p.Leu4646Arg) c.13967T>G (p.Leu4656Arg) c.13883T>G (p.Leu4628Arg) | |
| 19 | g.38572243C>A | CA507356235 | RYR1 | c.907C>A c.2304C>A c.2276C>A c.13971C>A (p.Leu4657=) c.13956C>A (p.Leu4652=) c.13953C>A (p.Leu4651=) c.431C>A c.13938C>A (p.Leu4646=) c.13968C>A (p.Leu4656=) c.13884C>A (p.Leu4628=) | |
| 19 | g.38572243C= | CA2335088460 | RYR1 | c.907C= c.2304C= c.2276C= c.13971C= (p.Leu4657=) c.13956C= (p.Leu4652=) c.13953C= (p.Leu4651=) c.431C= c.13938C= (p.Leu4646=) c.13968C= (p.Leu4656=) c.13884C= (p.Leu4628=) | |
| 19 | g.38572243C>G | CA507356237 | RYR1 | c.907C>G c.2304C>G c.2276C>G c.13971C>G (p.Leu4657=) c.13956C>G (p.Leu4652=) c.13953C>G (p.Leu4651=) c.431C>G c.13938C>G (p.Leu4646=) c.13968C>G (p.Leu4656=) c.13884C>G (p.Leu4628=) | |
| 19 | g.38572243C>T | CA507356238 | RYR1 | c.907C>T c.2304C>T c.2276C>T c.13971C>T (p.Leu4657=) c.13956C>T (p.Leu4652=) c.13953C>T (p.Leu4651=) c.431C>T c.13938C>T (p.Leu4646=) c.13968C>T (p.Leu4656=) c.13884C>T (p.Leu4628=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38572244T>A | CA405681480 | RYR1 | c.908T>A c.2305T>A c.2277T>A c.13972T>A (p.Cys4658Ser) c.13957T>A (p.Cys4653Ser) c.13954T>A (p.Cys4652Ser) c.432T>A c.13939T>A (p.Cys4647Ser) c.13969T>A (p.Cys4657Ser) c.13885T>A (p.Cys4629Ser) | |
| 19 | g.38572244T>C | CA060675 | RYR1 | c.908T>C c.2305T>C c.2277T>C c.13972T>C (p.Cys4658Arg) c.13957T>C (p.Cys4653Arg) c.13954T>C (p.Cys4652Arg) c.432T>C c.13939T>C (p.Cys4647Arg) c.13969T>C (p.Cys4657Arg) c.13885T>C (p.Cys4629Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38572244T>G | CA405681485 | RYR1 | c.908T>G c.2305T>G c.2277T>G c.13972T>G (p.Cys4658Gly) c.13957T>G (p.Cys4653Gly) c.13954T>G (p.Cys4652Gly) c.432T>G c.13939T>G (p.Cys4647Gly) c.13969T>G (p.Cys4657Gly) c.13885T>G (p.Cys4629Gly) | |
| 19 | g.38572244T= | CA2335088461 | RYR1 | c.908T= c.2305T= c.2277T= c.13972T= (p.Cys4658=) c.13957T= (p.Cys4653=) c.13954T= (p.Cys4652=) c.432T= c.13939T= (p.Cys4647=) c.13969T= (p.Cys4657=) c.13885T= (p.Cys4629=) | |
| 19 | g.38572245G>A | CA405681489 | RYR1 | c.909G>A c.2306G>A c.2278G>A c.13973G>A (p.Cys4658Tyr) c.13958G>A (p.Cys4653Tyr) c.13955G>A (p.Cys4652Tyr) c.13940G>A (p.Cys4647Tyr) c.13970G>A (p.Cys4657Tyr) c.13886G>A (p.Cys4629Tyr) | |
| 19 | g.38572245G>C | CA405681492 | RYR1 | c.909G>C c.2306G>C c.2278G>C c.13973G>C (p.Cys4658Ser) c.13958G>C (p.Cys4653Ser) c.13955G>C (p.Cys4652Ser) c.13940G>C (p.Cys4647Ser) c.13970G>C (p.Cys4657Ser) c.13886G>C (p.Cys4629Ser) | |
| 19 | g.38572245G>T | CA405681494 | RYR1 | c.909G>T c.2306G>T c.2278G>T c.13973G>T (p.Cys4658Phe) c.13958G>T (p.Cys4653Phe) c.13955G>T (p.Cys4652Phe) c.13940G>T (p.Cys4647Phe) c.13970G>T (p.Cys4657Phe) c.13886G>T (p.Cys4629Phe) | |
| 19 | g.38572246C>A | CA405681497 | RYR1 | c.910C>A c.2307C>A c.2279C>A c.13974C>A (p.Cys4658Ter) c.13959C>A (p.Cys4653Ter) c.13956C>A (p.Cys4652Ter) c.13941C>A (p.Cys4647Ter) c.13971C>A (p.Cys4657Ter) c.13887C>A (p.Cys4629Ter) | |
| 19 | g.38572246C>G | CA405681496 | RYR1 | c.910C>G c.2307C>G c.2279C>G c.13974C>G (p.Cys4658Trp) c.13959C>G (p.Cys4653Trp) c.13956C>G (p.Cys4652Trp) c.13941C>G (p.Cys4647Trp) c.13971C>G (p.Cys4657Trp) c.13887C>G (p.Cys4629Trp) | |
| 19 | g.38572246C>T | CA507356240 | RYR1 | c.910C>T c.2307C>T c.2279C>T c.13974C>T (p.Cys4658=) c.13959C>T (p.Cys4653=) c.13956C>T (p.Cys4652=) c.13941C>T (p.Cys4647=) c.13971C>T (p.Cys4657=) c.13887C>T (p.Cys4629=) | dbSNP |
| 19 | g.38572247A= | CA2335088462 | RYR1 | c.911A= c.2308A= c.2280A= c.13975A= (p.Ile4659=) c.13960A= (p.Ile4654=) c.13957A= (p.Ile4653=) c.13942A= (p.Ile4648=) c.13972A= (p.Ile4658=) c.13888A= (p.Ile4630=) | |
| 19 | g.38572247A>C | CA405681498 | RYR1 | c.911A>C c.2308A>C c.2280A>C c.13975A>C (p.Ile4659Leu) c.13960A>C (p.Ile4654Leu) c.13957A>C (p.Ile4653Leu) c.13942A>C (p.Ile4648Leu) c.13972A>C (p.Ile4658Leu) c.13888A>C (p.Ile4630Leu) | dbSNP |
| 19 | g.38572247A>G | CA060680 | RYR1 | c.911A>G c.2308A>G c.2280A>G c.13975A>G (p.Ile4659Val) c.13960A>G (p.Ile4654Val) c.13957A>G (p.Ile4653Val) c.13942A>G (p.Ile4648Val) c.13972A>G (p.Ile4658Val) c.13888A>G (p.Ile4630Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38572247A>T | CA405681499 | RYR1 | c.911A>T c.2308A>T c.2280A>T c.13975A>T (p.Ile4659Phe) c.13960A>T (p.Ile4654Phe) c.13957A>T (p.Ile4653Phe) c.13942A>T (p.Ile4648Phe) c.13972A>T (p.Ile4658Phe) c.13888A>T (p.Ile4630Phe) | |
| 19 | g.38572248T>A | CA405681501 | RYR1 | c.912T>A c.2309T>A c.2281T>A c.13976T>A (p.Ile4659Asn) c.13961T>A (p.Ile4654Asn) c.13958T>A (p.Ile4653Asn) c.13943T>A (p.Ile4648Asn) c.13973T>A (p.Ile4658Asn) c.13889T>A (p.Ile4630Asn) | |
| 19 | g.38572248T>C | CA405681503 | RYR1 | c.912T>C c.2309T>C c.2281T>C c.13976T>C (p.Ile4659Thr) c.13961T>C (p.Ile4654Thr) c.13958T>C (p.Ile4653Thr) c.13943T>C (p.Ile4648Thr) c.13973T>C (p.Ile4658Thr) c.13889T>C (p.Ile4630Thr) | |
| 19 | g.38572248T>G | CA405681506 | RYR1 | c.912T>G c.2309T>G c.2281T>G c.13976T>G (p.Ile4659Ser) c.13961T>G (p.Ile4654Ser) c.13958T>G (p.Ile4653Ser) c.13943T>G (p.Ile4648Ser) c.13973T>G (p.Ile4658Ser) c.13889T>G (p.Ile4630Ser) | |
| 19 | g.38572249C>A | CA507356242 | RYR1 | c.913C>A c.2310C>A c.2282C>A c.13977C>A (p.Ile4659=) c.13962C>A (p.Ile4654=) c.13959C>A (p.Ile4653=) c.13944C>A (p.Ile4648=) c.13974C>A (p.Ile4658=) c.13890C>A (p.Ile4630=) | COSMIC |
| 19 | g.38572249C>G | CA405681507 | RYR1 | c.913C>G c.2310C>G c.2282C>G c.13977C>G (p.Ile4659Met) c.13962C>G (p.Ile4654Met) c.13959C>G (p.Ile4653Met) c.13944C>G (p.Ile4648Met) c.13974C>G (p.Ile4658Met) c.13890C>G (p.Ile4630Met) | |
| 19 | g.38572249C>T | CA507356241 | RYR1 | c.913C>T c.2310C>T c.2282C>T c.13977C>T (p.Ile4659=) c.13962C>T (p.Ile4654=) c.13959C>T (p.Ile4653=) c.13944C>T (p.Ile4648=) c.13974C>T (p.Ile4658=) c.13890C>T (p.Ile4630=) | |
| 19 | g.38572250A= | CA2335088463 | RYR1 | c.914A= c.2311A= c.2283A= c.13978A= (p.Ile4660=) c.13963A= (p.Ile4655=) c.13960A= (p.Ile4654=) c.13945A= (p.Ile4649=) c.13975A= (p.Ile4659=) c.13891A= (p.Ile4631=) | |
| 19 | g.38572250A>C | CA405681509 | RYR1 | c.914A>C c.2311A>C c.2283A>C c.13978A>C (p.Ile4660Leu) c.13963A>C (p.Ile4655Leu) c.13960A>C (p.Ile4654Leu) c.13945A>C (p.Ile4649Leu) c.13975A>C (p.Ile4659Leu) c.13891A>C (p.Ile4631Leu) | |
| 19 | g.38572250A>G | CA081041 | RYR1 | c.914A>G c.2311A>G c.2283A>G c.13978A>G (p.Ile4660Val) c.13963A>G (p.Ile4655Val) c.13960A>G (p.Ile4654Val) c.13945A>G (p.Ile4649Val) c.13975A>G (p.Ile4659Val) c.13891A>G (p.Ile4631Val) | gnomAD v4 |
| 19 | g.38572250A>T | CA060681 | RYR1 | c.914A>T c.2311A>T c.2283A>T c.13978A>T (p.Ile4660Phe) c.13963A>T (p.Ile4655Phe) c.13960A>T (p.Ile4654Phe) c.13945A>T (p.Ile4649Phe) c.13975A>T (p.Ile4659Phe) c.13891A>T (p.Ile4631Phe) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.38572251T>A | CA405681515 | RYR1 | c.915T>A c.2312T>A c.2284T>A c.13979T>A (p.Ile4660Asn) c.13964T>A (p.Ile4655Asn) c.13961T>A (p.Ile4654Asn) c.13946T>A (p.Ile4649Asn) c.13976T>A (p.Ile4659Asn) c.13892T>A (p.Ile4631Asn) | |
| 19 | g.38572251T>C | CA405681518 | RYR1 | c.915T>C c.2312T>C c.2284T>C c.13979T>C (p.Ile4660Thr) c.13964T>C (p.Ile4655Thr) c.13961T>C (p.Ile4654Thr) c.13946T>C (p.Ile4649Thr) c.13976T>C (p.Ile4659Thr) c.13892T>C (p.Ile4631Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38572251T>G | CA405681519 | RYR1 | c.915T>G c.2312T>G c.2284T>G c.13979T>G (p.Ile4660Ser) c.13964T>G (p.Ile4655Ser) c.13961T>G (p.Ile4654Ser) c.13946T>G (p.Ile4649Ser) c.13976T>G (p.Ile4659Ser) c.13892T>G (p.Ile4631Ser) | |
| 19 | g.38572251T= | CA2335088464 | RYR1 | c.915T= c.2312T= c.2284T= c.13979T= (p.Ile4660=) c.13964T= (p.Ile4655=) c.13961T= (p.Ile4654=) c.13946T= (p.Ile4649=) c.13976T= (p.Ile4659=) c.13892T= (p.Ile4631=) | |
| 19 | g.38572252T>A | CA507356244 | RYR1 | c.916T>A c.2313T>A c.2285T>A c.13980T>A (p.Ile4660=) c.13965T>A (p.Ile4655=) c.13962T>A (p.Ile4654=) c.13947T>A (p.Ile4649=) c.13977T>A (p.Ile4659=) c.13893T>A (p.Ile4631=) | |
| 19 | g.38572252T>C | CA507356245 | RYR1 | c.916T>C c.2313T>C c.2285T>C c.13980T>C (p.Ile4660=) c.13965T>C (p.Ile4655=) c.13962T>C (p.Ile4654=) c.13947T>C (p.Ile4649=) c.13977T>C (p.Ile4659=) c.13893T>C (p.Ile4631=) | |
| 19 | g.38572252T>G | CA405681523 | RYR1 | c.916T>G c.2313T>G c.2285T>G c.13980T>G (p.Ile4660Met) c.13965T>G (p.Ile4655Met) c.13962T>G (p.Ile4654Met) c.13947T>G (p.Ile4649Met) c.13977T>G (p.Ile4659Met) c.13893T>G (p.Ile4631Met) | |
| 19 | g.38572253G>A | CA405681532 | RYR1 | c.917G>A c.2314G>A c.2286G>A c.13981G>A (p.Gly4661Ser) c.13966G>A (p.Gly4656Ser) c.13963G>A (p.Gly4655Ser) c.13948G>A (p.Gly4650Ser) c.13978G>A (p.Gly4660Ser) c.13894G>A (p.Gly4632Ser) | |
| 19 | g.38572253G>C | CA405681526 | RYR1 | c.917G>C c.2314G>C c.2286G>C c.13981G>C (p.Gly4661Arg) c.13966G>C (p.Gly4656Arg) c.13963G>C (p.Gly4655Arg) c.13948G>C (p.Gly4650Arg) c.13978G>C (p.Gly4660Arg) c.13894G>C (p.Gly4632Arg) | |
| 19 | g.38572253G>T | CA405681528 | RYR1 | c.917G>T c.2314G>T c.2286G>T c.13981G>T (p.Gly4661Cys) c.13966G>T (p.Gly4656Cys) c.13963G>T (p.Gly4655Cys) c.13948G>T (p.Gly4650Cys) c.13978G>T (p.Gly4660Cys) c.13894G>T (p.Gly4632Cys) | |
| 19 | g.38572254G>A | CA405681535 | RYR1 | c.918G>A c.2315G>A c.2287G>A c.13982G>A (p.Gly4661Asp) c.13967G>A (p.Gly4656Asp) c.13964G>A (p.Gly4655Asp) c.13949G>A (p.Gly4650Asp) c.13979G>A (p.Gly4660Asp) c.13895G>A (p.Gly4632Asp) | |
| 19 | g.38572254G>C | CA405681536 | RYR1 | c.918G>C c.2315G>C c.2287G>C c.13982G>C (p.Gly4661Ala) c.13967G>C (p.Gly4656Ala) c.13964G>C (p.Gly4655Ala) c.13949G>C (p.Gly4650Ala) c.13979G>C (p.Gly4660Ala) c.13895G>C (p.Gly4632Ala) | |
| 19 | g.38572254G>T | CA405681538 | RYR1 | c.918G>T c.2315G>T c.2287G>T c.13982G>T (p.Gly4661Val) c.13967G>T (p.Gly4656Val) c.13964G>T (p.Gly4655Val) c.13949G>T (p.Gly4650Val) c.13979G>T (p.Gly4660Val) c.13895G>T (p.Gly4632Val) | gnomAD v4 |
| 19 | g.38572255C>A | CA507356246 | RYR1 | c.919C>A c.2316C>A c.2288C>A c.13983C>A (p.Gly4661=) c.13968C>A (p.Gly4656=) c.13965C>A (p.Gly4655=) c.13950C>A (p.Gly4650=) c.13980C>A (p.Gly4660=) c.13896C>A (p.Gly4632=) | |
| 19 | g.38572255C= | CA2335088465 | RYR1 | c.919C= c.2316C= c.2288C= c.13983C= (p.Gly4661=) c.13968C= (p.Gly4656=) c.13965C= (p.Gly4655=) c.13950C= (p.Gly4650=) c.13980C= (p.Gly4660=) c.13896C= (p.Gly4632=) | |
| 19 | g.38572255C>G | CA507356247 | RYR1 | c.919C>G c.2316C>G c.2288C>G c.13983C>G (p.Gly4661=) c.13968C>G (p.Gly4656=) c.13965C>G (p.Gly4655=) c.13950C>G (p.Gly4650=) c.13980C>G (p.Gly4660=) c.13896C>G (p.Gly4632=) | gnomAD v4 |
| 19 | g.38572255C>T | CA507356248 | RYR1 | c.919C>T c.2316C>T c.2288C>T c.13983C>T (p.Gly4661=) c.13968C>T (p.Gly4656=) c.13965C>T (p.Gly4655=) c.13950C>T (p.Gly4650=) c.13980C>T (p.Gly4660=) c.13896C>T (p.Gly4632=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38572256T>A | CA405681540 | RYR1 | c.920T>A c.2317T>A c.2289T>A c.13984T>A (p.Tyr4662Asn) c.13969T>A (p.Tyr4657Asn) c.13966T>A (p.Tyr4656Asn) c.13951T>A (p.Tyr4651Asn) c.13981T>A (p.Tyr4661Asn) c.13897T>A (p.Tyr4633Asn) | |
| 19 | g.38572256T>C | CA405681542 | RYR1 | c.920T>C c.2317T>C c.2289T>C c.13984T>C (p.Tyr4662His) c.13969T>C (p.Tyr4657His) c.13966T>C (p.Tyr4656His) c.13951T>C (p.Tyr4651His) c.13981T>C (p.Tyr4661His) c.13897T>C (p.Tyr4633His) | |
| 19 | g.38572256T>G | CA405681543 | RYR1 | c.920T>G c.2317T>G c.2289T>G c.13984T>G (p.Tyr4662Asp) c.13969T>G (p.Tyr4657Asp) c.13966T>G (p.Tyr4656Asp) c.13951T>G (p.Tyr4651Asp) c.13981T>G (p.Tyr4661Asp) c.13897T>G (p.Tyr4633Asp) | |
| 19 | g.38572257A= | CA2335088466 | RYR1 | c.921A= c.2318A= c.2290A= c.13985A= (p.Tyr4662=) c.13970A= (p.Tyr4657=) c.13967A= (p.Tyr4656=) c.13952A= (p.Tyr4651=) c.13982A= (p.Tyr4661=) c.13898A= (p.Tyr4633=) | |
| 19 | g.38572257A>C | CA405681545 | RYR1 | c.921A>C c.2318A>C c.2290A>C c.13985A>C (p.Tyr4662Ser) c.13970A>C (p.Tyr4657Ser) c.13967A>C (p.Tyr4656Ser) c.13952A>C (p.Tyr4651Ser) c.13982A>C (p.Tyr4661Ser) c.13898A>C (p.Tyr4633Ser) | |
| 19 | g.38572257A>G | CA405681547 | RYR1 | c.921A>G c.2318A>G c.2290A>G c.13985A>G (p.Tyr4662Cys) c.13970A>G (p.Tyr4657Cys) c.13967A>G (p.Tyr4656Cys) c.13952A>G (p.Tyr4651Cys) c.13982A>G (p.Tyr4661Cys) c.13898A>G (p.Tyr4633Cys) | dbSNP |
| 19 | g.38572257A>T | CA405681549 | RYR1 | c.921A>T c.2318A>T c.2290A>T c.13985A>T (p.Tyr4662Phe) c.13970A>T (p.Tyr4657Phe) c.13967A>T (p.Tyr4656Phe) c.13952A>T (p.Tyr4651Phe) c.13982A>T (p.Tyr4661Phe) c.13898A>T (p.Tyr4633Phe) | |
| 19 | g.38572258T>A | CA405681550 | RYR1 | c.922T>A c.2319T>A c.2291T>A c.13986T>A (p.Tyr4662Ter) c.13971T>A (p.Tyr4657Ter) c.13968T>A (p.Tyr4656Ter) c.13953T>A (p.Tyr4651Ter) c.13983T>A (p.Tyr4661Ter) c.13899T>A (p.Tyr4633Ter) | |
| 19 | g.38572258T>C | CA507356252 | RYR1 | c.922T>C c.2319T>C c.2291T>C c.13986T>C (p.Tyr4662=) c.13971T>C (p.Tyr4657=) c.13968T>C (p.Tyr4656=) c.13953T>C (p.Tyr4651=) c.13983T>C (p.Tyr4661=) c.13899T>C (p.Tyr4633=) | dbSNP |
| 19 | g.38572258T>G | CA405681552 | RYR1 | c.922T>G c.2319T>G c.2291T>G c.13986T>G (p.Tyr4662Ter) c.13971T>G (p.Tyr4657Ter) c.13968T>G (p.Tyr4656Ter) c.13953T>G (p.Tyr4651Ter) c.13983T>G (p.Tyr4661Ter) c.13899T>G (p.Tyr4633Ter) | |
| 19 | g.38572258dup | CA2584910042 | RYR1 | c.922dup c.2319dup c.2291dup c.13986dup (p.Asn4663Ter) c.13971dup (p.Asn4658Ter) c.13968dup (p.Asn4657Ter) c.13953dup (p.Asn4652Ter) c.13983dup (p.Asn4662Ter) c.13899dup (p.Asn4634Ter) | gnomAD v4 |
| 19 | g.38572259A>C | CA405681554 | RYR1 | c.923A>C c.2320A>C c.2292A>C c.13987A>C (p.Asn4663His) c.13972A>C (p.Asn4658His) c.13969A>C (p.Asn4657His) c.13954A>C (p.Asn4652His) c.13984A>C (p.Asn4662His) c.13900A>C (p.Asn4634His) | |
| 19 | g.38572259A>G | CA405681557 | RYR1 | c.923A>G c.2320A>G c.2292A>G c.13987A>G (p.Asn4663Asp) c.13972A>G (p.Asn4658Asp) c.13969A>G (p.Asn4657Asp) c.13954A>G (p.Asn4652Asp) c.13984A>G (p.Asn4662Asp) c.13900A>G (p.Asn4634Asp) | gnomAD v4 |
| 19 | g.38572259A>T | CA405681555 | RYR1 | c.923A>T c.2320A>T c.2292A>T c.13987A>T (p.Asn4663Tyr) c.13972A>T (p.Asn4658Tyr) c.13969A>T (p.Asn4657Tyr) c.13954A>T (p.Asn4652Tyr) c.13984A>T (p.Asn4662Tyr) c.13900A>T (p.Asn4634Tyr) | |
| 19 | g.38572260A>C | CA405681559 | RYR1 | c.924A>C c.2321A>C c.2293A>C c.13988A>C (p.Asn4663Thr) c.13973A>C (p.Asn4658Thr) c.13970A>C (p.Asn4657Thr) c.13955A>C (p.Asn4652Thr) c.13985A>C (p.Asn4662Thr) c.13901A>C (p.Asn4634Thr) | |
| 19 | g.38572260A>G | CA405681560 | RYR1 | c.924A>G c.2321A>G c.2293A>G c.13988A>G (p.Asn4663Ser) c.13973A>G (p.Asn4658Ser) c.13970A>G (p.Asn4657Ser) c.13955A>G (p.Asn4652Ser) c.13985A>G (p.Asn4662Ser) c.13901A>G (p.Asn4634Ser) | |
| 19 | g.38572260A>T | CA405681561 | RYR1 | c.924A>T c.2321A>T c.2293A>T c.13988A>T (p.Asn4663Ile) c.13973A>T (p.Asn4658Ile) c.13970A>T (p.Asn4657Ile) c.13955A>T (p.Asn4652Ile) c.13985A>T (p.Asn4662Ile) c.13901A>T (p.Asn4634Ile) | dbSNP |
| 19 | g.38572261T>A | CA405681562 | RYR1 | c.925T>A c.2322T>A c.2294T>A c.13989T>A (p.Asn4663Lys) c.13974T>A (p.Asn4658Lys) c.13971T>A (p.Asn4657Lys) c.13956T>A (p.Asn4652Lys) c.13986T>A (p.Asn4662Lys) c.13902T>A (p.Asn4634Lys) | |
| 19 | g.38572261T>C | CA507356254 | RYR1 | c.925T>C c.2322T>C c.2294T>C c.13989T>C (p.Asn4663=) c.13974T>C (p.Asn4658=) c.13971T>C (p.Asn4657=) c.13956T>C (p.Asn4652=) c.13986T>C (p.Asn4662=) c.13902T>C (p.Asn4634=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38572261T>G | CA405681563 | RYR1 | c.925T>G c.2322T>G c.2294T>G c.13989T>G (p.Asn4663Lys) c.13974T>G (p.Asn4658Lys) c.13971T>G (p.Asn4657Lys) c.13956T>G (p.Asn4652Lys) c.13986T>G (p.Asn4662Lys) c.13902T>G (p.Asn4634Lys) | |
| 19 | g.38572261T= | CA2335088467 | RYR1 | c.925T= c.2322T= c.2294T= c.13989T= (p.Asn4663=) c.13974T= (p.Asn4658=) c.13971T= (p.Asn4657=) c.13956T= (p.Asn4652=) c.13986T= (p.Asn4662=) c.13902T= (p.Asn4634=) | |
| 19 | g.38572262T>A | CA405681564 | RYR1 | c.926T>A c.2323T>A c.2295T>A c.13990T>A (p.Cys4664Ser) c.13975T>A (p.Cys4659Ser) c.13972T>A (p.Cys4658Ser) c.13957T>A (p.Cys4653Ser) c.13987T>A (p.Cys4663Ser) c.13903T>A (p.Cys4635Ser) | |
| 19 | g.38572262T>C | CA060685 | RYR1 | c.926T>C c.2323T>C c.2295T>C c.13990T>C (p.Cys4664Arg) c.13975T>C (p.Cys4659Arg) c.13972T>C (p.Cys4658Arg) c.13957T>C (p.Cys4653Arg) c.13987T>C (p.Cys4663Arg) c.13903T>C (p.Cys4635Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38572262T>G | CA405681565 | RYR1 | c.926T>G c.2323T>G c.2295T>G c.13990T>G (p.Cys4664Gly) c.13975T>G (p.Cys4659Gly) c.13972T>G (p.Cys4658Gly) c.13957T>G (p.Cys4653Gly) c.13987T>G (p.Cys4663Gly) c.13903T>G (p.Cys4635Gly) | |
| 19 | g.38572262T= | CA2335088468 | RYR1 | c.926T= c.2323T= c.2295T= c.13990T= (p.Cys4664=) c.13975T= (p.Cys4659=) c.13972T= (p.Cys4658=) c.13957T= (p.Cys4653=) c.13987T= (p.Cys4663=) c.13903T= (p.Cys4635=) | |
| 19 | g.38572263G>A | CA405681566 | RYR1 | c.927G>A c.2324G>A c.2296G>A c.13991G>A (p.Cys4664Tyr) c.13976G>A (p.Cys4659Tyr) c.13973G>A (p.Cys4658Tyr) c.13958G>A (p.Cys4653Tyr) c.13988G>A (p.Cys4663Tyr) c.13904G>A (p.Cys4635Tyr) | dbSNP |
| 19 | g.38572263G>C | CA405681567 | RYR1 | c.927G>C c.2324G>C c.2296G>C c.13991G>C (p.Cys4664Ser) c.13976G>C (p.Cys4659Ser) c.13973G>C (p.Cys4658Ser) c.13958G>C (p.Cys4653Ser) c.13988G>C (p.Cys4663Ser) c.13904G>C (p.Cys4635Ser) | |
| 19 | g.38572263G= | CA2335088469 | RYR1 | c.927G= c.2324G= c.2296G= c.13991G= (p.Cys4664=) c.13976G= (p.Cys4659=) c.13973G= (p.Cys4658=) c.13958G= (p.Cys4653=) c.13988G= (p.Cys4663=) c.13904G= (p.Cys4635=) | |
| 19 | g.38572263G>T | CA405681569 | RYR1 | c.927G>T c.2324G>T c.2296G>T c.13991G>T (p.Cys4664Phe) c.13976G>T (p.Cys4659Phe) c.13973G>T (p.Cys4658Phe) c.13958G>T (p.Cys4653Phe) c.13988G>T (p.Cys4663Phe) c.13904G>T (p.Cys4635Phe) | gnomAD v4 |
| 19 | g.38572264T>A | CA405681574 | RYR1 | c.928T>A c.2325T>A c.2297T>A c.13992T>A (p.Cys4664Ter) c.13977T>A (p.Cys4659Ter) c.13974T>A (p.Cys4658Ter) c.13959T>A (p.Cys4653Ter) c.13989T>A (p.Cys4663Ter) c.13905T>A (p.Cys4635Ter) | |
| 19 | g.38572264T>C | CA507356259 | RYR1 | c.928T>C c.2325T>C c.2297T>C c.13992T>C (p.Cys4664=) c.13977T>C (p.Cys4659=) c.13974T>C (p.Cys4658=) c.13959T>C (p.Cys4653=) c.13989T>C (p.Cys4663=) c.13905T>C (p.Cys4635=) | dbSNP |
| 19 | g.38572264T>G | CA405681573 | RYR1 | c.928T>G c.2325T>G c.2297T>G c.13992T>G (p.Cys4664Trp) c.13977T>G (p.Cys4659Trp) c.13974T>G (p.Cys4658Trp) c.13959T>G (p.Cys4653Trp) c.13989T>G (p.Cys4663Trp) c.13905T>G (p.Cys4635Trp) | |
| 19 | g.38572265C>A | CA405681577 | RYR1 | c.929C>A c.2326C>A c.2298C>A c.13993C>A (p.Leu4665Ile) c.13978C>A (p.Leu4660Ile) c.13975C>A (p.Leu4659Ile) c.13960C>A (p.Leu4654Ile) c.13990C>A (p.Leu4664Ile) c.13906C>A (p.Leu4636Ile) | |
| 19 | g.38572265C>G | CA405681580 | RYR1 | c.929C>G c.2326C>G c.2298C>G c.13993C>G (p.Leu4665Val) c.13978C>G (p.Leu4660Val) c.13975C>G (p.Leu4659Val) c.13960C>G (p.Leu4654Val) c.13990C>G (p.Leu4664Val) c.13906C>G (p.Leu4636Val) | |
| 19 | g.38572265C>T | CA405681578 | RYR1 | c.929C>T c.2326C>T c.2298C>T c.13993C>T (p.Leu4665Phe) c.13978C>T (p.Leu4660Phe) c.13975C>T (p.Leu4659Phe) c.13960C>T (p.Leu4654Phe) c.13990C>T (p.Leu4664Phe) c.13906C>T (p.Leu4636Phe) | |
| 19 | g.38572266T>A | CA405681582 | RYR1 | c.930T>A c.2327T>A c.2299T>A c.13994T>A (p.Leu4665His) c.13979T>A (p.Leu4660His) c.13976T>A (p.Leu4659His) c.13961T>A (p.Leu4654His) c.13991T>A (p.Leu4664His) c.13907T>A (p.Leu4636His) | |
| 19 | g.38572266T>C | CA405681584 | RYR1 | c.930T>C c.2327T>C c.2299T>C c.13994T>C (p.Leu4665Pro) c.13979T>C (p.Leu4660Pro) c.13976T>C (p.Leu4659Pro) c.13961T>C (p.Leu4654Pro) c.13991T>C (p.Leu4664Pro) c.13907T>C (p.Leu4636Pro) | ClinVar dbSNP |
| 19 | g.38572266T>G | CA405681586 | RYR1 | c.930T>G c.2327T>G c.2299T>G c.13994T>G (p.Leu4665Arg) c.13979T>G (p.Leu4660Arg) c.13976T>G (p.Leu4659Arg) c.13961T>G (p.Leu4654Arg) c.13991T>G (p.Leu4664Arg) c.13907T>G (p.Leu4636Arg) | |
| 19 | g.38572266_38572267delinsCT | CA024095 | RYR1 | c.930_931delinsCT c.2327_2328delinsCT c.2299_2300delinsCT c.13994_13995delinsCT (p.Leu4665Pro) c.13979_13980delinsCT (p.Leu4660Pro) c.13976_13977delinsCT (p.Leu4659Pro) c.13961_13962delinsCT (p.Leu4654Pro) c.13991_13992delinsCT (p.Leu4664Pro) c.13907_13908delinsCT (p.Leu4636Pro) | ClinVar dbSNP |
| 19 | g.38572266_38572267delinsTC | CA2335088470 | RYR1 | c.930_931delinsTC c.2327_2328delinsTC c.2299_2300delinsTC c.13994_13995delinsTC (p.Leu4665=) c.13979_13980delinsTC (p.Leu4660=) c.13976_13977delinsTC (p.Leu4659=) c.13961_13962delinsTC (p.Leu4654=) c.13991_13992delinsTC (p.Leu4664=) c.13907_13908delinsTC (p.Leu4636=) | |
| 19 | g.38572267C>A | CA507356263 | RYR1 | c.931C>A c.2328C>A c.2300C>A c.13995C>A (p.Leu4665=) c.13980C>A (p.Leu4660=) c.13977C>A (p.Leu4659=) c.13962C>A (p.Leu4654=) c.13992C>A (p.Leu4664=) c.13908C>A (p.Leu4636=) | |
| 19 | g.38572267C>G | CA507356264 | RYR1 | c.931C>G c.2328C>G c.2300C>G c.13995C>G (p.Leu4665=) c.13980C>G (p.Leu4660=) c.13977C>G (p.Leu4659=) c.13962C>G (p.Leu4654=) c.13992C>G (p.Leu4664=) c.13908C>G (p.Leu4636=) | gnomAD v4 |
| 19 | g.38572267C>T | CA507356265 | RYR1 | c.931C>T c.2328C>T c.2300C>T c.13995C>T (p.Leu4665=) c.13980C>T (p.Leu4660=) c.13977C>T (p.Leu4659=) c.13962C>T (p.Leu4654=) c.13992C>T (p.Leu4664=) c.13908C>T (p.Leu4636=) | ClinVar gnomAD v4 |
| 19 | g.38572268A>C | CA405681589 | RYR1 | c.932A>C c.2329A>C c.2301A>C c.13996A>C (p.Lys4666Gln) c.13981A>C (p.Lys4661Gln) c.13978A>C (p.Lys4660Gln) c.13963A>C (p.Lys4655Gln) c.13993A>C (p.Lys4665Gln) c.13909A>C (p.Lys4637Gln) | gnomAD v4 |
| 19 | g.38572268A>G | CA405681590 | RYR1 | c.932A>G c.2329A>G c.2301A>G c.13996A>G (p.Lys4666Glu) c.13981A>G (p.Lys4661Glu) c.13978A>G (p.Lys4660Glu) c.13963A>G (p.Lys4655Glu) c.13993A>G (p.Lys4665Glu) c.13909A>G (p.Lys4637Glu) | ClinVar |
| 19 | g.38572268A>T | CA405681591 | RYR1 | c.932A>T c.2329A>T c.2301A>T c.13996A>T (p.Lys4666Ter) c.13981A>T (p.Lys4661Ter) c.13978A>T (p.Lys4660Ter) c.13963A>T (p.Lys4655Ter) c.13993A>T (p.Lys4665Ter) c.13909A>T (p.Lys4637Ter) | |
| 19 | g.38572269A>C | CA405681595 | RYR1 | c.933A>C c.2330A>C c.2302A>C c.13997A>C (p.Lys4666Thr) c.13982A>C (p.Lys4661Thr) c.13979A>C (p.Lys4660Thr) c.13964A>C (p.Lys4655Thr) c.13994A>C (p.Lys4665Thr) c.13910A>C (p.Lys4637Thr) | |
| 19 | g.38572269A>G | CA405681592 | RYR1 | c.933A>G c.2330A>G c.2302A>G c.13997A>G (p.Lys4666Arg) c.13982A>G (p.Lys4661Arg) c.13979A>G (p.Lys4660Arg) c.13964A>G (p.Lys4655Arg) c.13994A>G (p.Lys4665Arg) c.13910A>G (p.Lys4637Arg) | |
| 19 | g.38572269A>T | CA405681593 | RYR1 | c.933A>T c.2330A>T c.2302A>T c.13997A>T (p.Lys4666Met) c.13982A>T (p.Lys4661Met) c.13979A>T (p.Lys4660Met) c.13964A>T (p.Lys4655Met) c.13994A>T (p.Lys4665Met) c.13910A>T (p.Lys4637Met) | |
| 19 | g.38572270G>A | CA507356267 | RYR1 | c.934G>A c.2331G>A c.2303G>A c.13998G>A (p.Lys4666=) c.13983G>A (p.Lys4661=) c.13980G>A (p.Lys4660=) c.13965G>A (p.Lys4655=) c.13995G>A (p.Lys4665=) c.13911G>A (p.Lys4637=) | ClinVar dbSNP |
| 19 | g.38572270G>C | CA405681597 | RYR1 | c.934G>C c.2331G>C c.2303G>C c.13998G>C (p.Lys4666Asn) c.13983G>C (p.Lys4661Asn) c.13980G>C (p.Lys4660Asn) c.13965G>C (p.Lys4655Asn) c.13995G>C (p.Lys4665Asn) c.13911G>C (p.Lys4637Asn) | |
| 19 | g.38572270G= | CA2335088471 | RYR1 | c.934G= c.2331G= c.2303G= c.13998G= (p.Lys4666=) c.13983G= (p.Lys4661=) c.13980G= (p.Lys4660=) c.13965G= (p.Lys4655=) c.13995G= (p.Lys4665=) c.13911G= (p.Lys4637=) | |
| 19 | g.38572270G>T | CA405681599 | RYR1 | c.934G>T c.2331G>T c.2303G>T c.13998G>T (p.Lys4666Asn) c.13983G>T (p.Lys4661Asn) c.13980G>T (p.Lys4660Asn) c.13965G>T (p.Lys4655Asn) c.13995G>T (p.Lys4665Asn) c.13911G>T (p.Lys4637Asn) | gnomAD v4 |
| 19 | g.38572271G>A | CA405681601 | RYR1 | c.934+1G>A c.2331+1G>A c.2303+1G>A c.13998+1G>A (n.13998+1G>A) c.13983+1G>A (n.13983+1G>A) c.13980+1G>A (n.13980+1G>A) c.13965+1G>A (n.13965+1G>A) c.13995+1G>A (n.13995+1G>A) c.13911+1G>A (n.13911+1G>A) | |
| 19 | g.38572271G>C | CA405681603 | RYR1 | c.934+1G>C c.2331+1G>C c.2303+1G>C c.13998+1G>C (n.13998+1G>C) c.13983+1G>C (n.13983+1G>C) c.13980+1G>C (n.13980+1G>C) c.13965+1G>C (n.13965+1G>C) c.13995+1G>C (n.13995+1G>C) c.13911+1G>C (n.13911+1G>C) | |
| 19 | g.38572271G>T | CA405681604 | RYR1 | c.934+1G>T c.2331+1G>T c.2303+1G>T c.13998+1G>T (n.13998+1G>T) c.13983+1G>T (n.13983+1G>T) c.13980+1G>T (n.13980+1G>T) c.13965+1G>T (n.13965+1G>T) c.13995+1G>T (n.13995+1G>T) c.13911+1G>T (n.13911+1G>T) | |
| 19 | g.38572272T>A | CA405681606 | RYR1 | c.934+2T>A c.2331+2T>A c.2303+2T>A c.13998+2T>A (n.13998+2T>A) c.13983+2T>A (n.13983+2T>A) c.13980+2T>A (n.13980+2T>A) c.13965+2T>A (n.13965+2T>A) c.13995+2T>A (n.13995+2T>A) c.13911+2T>A (n.13911+2T>A) | |
| 19 | g.38572272T>C | CA405681609 | RYR1 | c.934+2T>C c.2331+2T>C c.2303+2T>C c.13998+2T>C (n.13998+2T>C) c.13983+2T>C (n.13983+2T>C) c.13980+2T>C (n.13980+2T>C) c.13965+2T>C (n.13965+2T>C) c.13995+2T>C (n.13995+2T>C) c.13911+2T>C (n.13911+2T>C) | |
| 19 | g.38572272T>G | CA405681607 | RYR1 | c.934+2T>G c.2331+2T>G c.2303+2T>G c.13998+2T>G (n.13998+2T>G) c.13983+2T>G (n.13983+2T>G) c.13980+2T>G (n.13980+2T>G) c.13965+2T>G (n.13965+2T>G) c.13995+2T>G (n.13995+2T>G) c.13911+2T>G (n.13911+2T>G) | |
| 19 | g.38572273G>A | CA060696 | RYR1 | c.934+3G>A c.2331+3G>A c.2303+3G>A c.13998+3G>A (n.13998+3G>A) c.13983+3G>A (n.13983+3G>A) c.13980+3G>A (n.13980+3G>A) c.13965+3G>A (n.13965+3G>A) c.13995+3G>A (n.13995+3G>A) c.13911+3G>A (n.13911+3G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38572273G= | CA2335088472 | RYR1 | c.934+3G= c.2331+3G= c.2303+3G= c.13998+3G= (n.13998+3G=) c.13983+3G= (n.13983+3G=) c.13980+3G= (n.13980+3G=) c.13965+3G= (n.13965+3G=) c.13995+3G= (n.13995+3G=) c.13911+3G= (n.13911+3G=) | |
| 19 | g.38572275G>T | CA2584910043 | RYR1 | c.934+5G>T c.2331+5G>T c.2303+5G>T c.13998+5G>T (n.13998+5G>T) c.13983+5G>T (n.13983+5G>T) c.13980+5G>T (n.13980+5G>T) c.13965+5G>T (n.13965+5G>T) c.13995+5G>T (n.13995+5G>T) c.13911+5G>T (n.13911+5G>T) | gnomAD v4 |
| 19 | g.38572276C= | CA2335088473 | RYR1 | c.934+6C= c.2331+6C= c.2303+6C= c.13998+6C= (n.13998+6C=) c.13983+6C= (n.13983+6C=) c.13980+6C= (n.13980+6C=) c.13965+6C= (n.13965+6C=) c.13995+6C= (n.13995+6C=) c.13911+6C= (n.13911+6C=) | |
| 19 | g.38572276C>T | CA060727 | RYR1 | c.934+6C>T c.2331+6C>T c.2303+6C>T c.13998+6C>T (n.13998+6C>T) c.13983+6C>T (n.13983+6C>T) c.13980+6C>T (n.13980+6C>T) c.13965+6C>T (n.13965+6C>T) c.13995+6C>T (n.13995+6C>T) c.13911+6C>T (n.13911+6C>T) | dbSNP ExAC gnomAD v2 |
| 19 | g.38572278C>A | CA2573156354 | RYR1 | c.934+8C>A c.2331+8C>A c.2303+8C>A c.13998+8C>A (n.13998+8C>A) c.13983+8C>A (n.13983+8C>A) c.13980+8C>A (n.13980+8C>A) c.13965+8C>A (n.13965+8C>A) c.13995+8C>A (n.13995+8C>A) c.13911+8C>A (n.13911+8C>A) | ClinVar dbSNP |
| 19 | g.38572279A= | CA2335088474 | RYR1 | c.934+9A= c.2331+9A= c.2303+9A= c.13998+9A= (n.13998+9A=) c.13983+9A= (n.13983+9A=) c.13980+9A= (n.13980+9A=) c.13965+9A= (n.13965+9A=) c.13995+9A= (n.13995+9A=) c.13911+9A= (n.13911+9A=) | |
| 19 | g.38572279A>C | CA2584910044 | RYR1 | c.934+9A>C c.2331+9A>C c.2303+9A>C c.13998+9A>C (n.13998+9A>C) c.13983+9A>C (n.13983+9A>C) c.13980+9A>C (n.13980+9A>C) c.13965+9A>C (n.13965+9A>C) c.13995+9A>C (n.13995+9A>C) c.13911+9A>C (n.13911+9A>C) | gnomAD v4 |
| 19 | g.38572279A>G | CA633066841 | RYR1 | c.934+9A>G c.2331+9A>G c.2303+9A>G c.13998+9A>G (n.13998+9A>G) c.13983+9A>G (n.13983+9A>G) c.13980+9A>G (n.13980+9A>G) c.13965+9A>G (n.13965+9A>G) c.13995+9A>G (n.13995+9A>G) c.13911+9A>G (n.13911+9A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38572279A>T | CA2576772227 | RYR1 | c.934+9A>T c.2331+9A>T c.2303+9A>T c.13998+9A>T (n.13998+9A>T) c.13983+9A>T (n.13983+9A>T) c.13980+9A>T (n.13980+9A>T) c.13965+9A>T (n.13965+9A>T) c.13995+9A>T (n.13995+9A>T) c.13911+9A>T (n.13911+9A>T) | gnomAD v4 |
| 19 | g.38572280T>C | CA2580097198 | RYR1 | c.934+10T>C c.2331+10T>C c.2303+10T>C c.13998+10T>C (n.13998+10T>C) c.13983+10T>C (n.13983+10T>C) c.13980+10T>C (n.13980+10T>C) c.13965+10T>C (n.13965+10T>C) c.13995+10T>C (n.13995+10T>C) c.13911+10T>C (n.13911+10T>C) | ClinVar |
| 19 | g.38572280T>G | CA2584910045 | RYR1 | c.934+10T>G c.2331+10T>G c.2303+10T>G c.13998+10T>G (n.13998+10T>G) c.13983+10T>G (n.13983+10T>G) c.13980+10T>G (n.13980+10T>G) c.13965+10T>G (n.13965+10T>G) c.13995+10T>G (n.13995+10T>G) c.13911+10T>G (n.13911+10T>G) | gnomAD v4 |
| 19 | g.38572281G>A | CA2584910046 | RYR1 | c.934+11G>A c.2331+11G>A c.2303+11G>A c.13998+11G>A (n.13998+11G>A) c.13983+11G>A (n.13983+11G>A) c.13980+11G>A (n.13980+11G>A) c.13965+11G>A (n.13965+11G>A) c.13995+11G>A (n.13995+11G>A) c.13911+11G>A (n.13911+11G>A) | gnomAD v4 |
| 19 | g.38572281G>T | CA2584910047 | RYR1 | c.934+11G>T c.2331+11G>T c.2303+11G>T c.13998+11G>T (n.13998+11G>T) c.13983+11G>T (n.13983+11G>T) c.13980+11G>T (n.13980+11G>T) c.13965+11G>T (n.13965+11G>T) c.13995+11G>T (n.13995+11G>T) c.13911+11G>T (n.13911+11G>T) | gnomAD v4 |
| 19 | g.38572282G>A | CA2584910048 | RYR1 | c.934+12G>A c.2331+12G>A c.2303+12G>A c.13998+12G>A (n.13998+12G>A) c.13983+12G>A (n.13983+12G>A) c.13980+12G>A (n.13980+12G>A) c.13965+12G>A (n.13965+12G>A) c.13995+12G>A (n.13995+12G>A) c.13911+12G>A (n.13911+12G>A) | gnomAD v4 |
| 19 | g.38572282G>C | CA2584910049 | RYR1 | c.934+12G>C c.2331+12G>C c.2303+12G>C c.13998+12G>C (n.13998+12G>C) c.13983+12G>C (n.13983+12G>C) c.13980+12G>C (n.13980+12G>C) c.13965+12G>C (n.13965+12G>C) c.13995+12G>C (n.13995+12G>C) c.13911+12G>C (n.13911+12G>C) | gnomAD v4 |
| 19 | g.38572282G>T | CA2576772228 | RYR1 | c.934+12G>T c.2331+12G>T c.2303+12G>T c.13998+12G>T (n.13998+12G>T) c.13983+12G>T (n.13983+12G>T) c.13980+12G>T (n.13980+12G>T) c.13965+12G>T (n.13965+12G>T) c.13995+12G>T (n.13995+12G>T) c.13911+12G>T (n.13911+12G>T) | |
| 19 | g.38572283C>G | CA2584910050 | RYR1 | c.934+13C>G c.2331+13C>G c.2303+13C>G c.13998+13C>G (n.13998+13C>G) c.13983+13C>G (n.13983+13C>G) c.13980+13C>G (n.13980+13C>G) c.13965+13C>G (n.13965+13C>G) c.13995+13C>G (n.13995+13C>G) c.13911+13C>G (n.13911+13C>G) | gnomAD v4 |
| 19 | g.38572283C>T | CA2584910051 | RYR1 | c.934+13C>T c.2331+13C>T c.2303+13C>T c.13998+13C>T (n.13998+13C>T) c.13983+13C>T (n.13983+13C>T) c.13980+13C>T (n.13980+13C>T) c.13965+13C>T (n.13965+13C>T) c.13995+13C>T (n.13995+13C>T) c.13911+13C>T (n.13911+13C>T) | gnomAD v4 |
| 19 | g.38572284C= | CA2335088475 | RYR1 | c.934+14C= c.2331+14C= c.2303+14C= c.13998+14C= (n.13998+14C=) c.13983+14C= (n.13983+14C=) c.13980+14C= (n.13980+14C=) c.13965+14C= (n.13965+14C=) c.13995+14C= (n.13995+14C=) c.13911+14C= (n.13911+14C=) | |
| 19 | g.38572284C>T | CA060687 | RYR1 | c.934+14C>T c.2331+14C>T c.2303+14C>T c.13998+14C>T (n.13998+14C>T) c.13983+14C>T (n.13983+14C>T) c.13980+14C>T (n.13980+14C>T) c.13965+14C>T (n.13965+14C>T) c.13995+14C>T (n.13995+14C>T) c.13911+14C>T (n.13911+14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38572285A= | CA2335088476 | RYR1 | c.934+15A= c.2331+15A= c.2303+15A= c.13998+15A= (n.13998+15A=) c.13983+15A= (n.13983+15A=) c.13980+15A= (n.13980+15A=) c.13965+15A= (n.13965+15A=) c.13995+15A= (n.13995+15A=) c.13911+15A= (n.13911+15A=) | |
| 19 | g.38572285A>C | CA882062765 | RYR1 | c.934+15A>C c.2331+15A>C c.2303+15A>C c.13998+15A>C (n.13998+15A>C) c.13983+15A>C (n.13983+15A>C) c.13980+15A>C (n.13980+15A>C) c.13965+15A>C (n.13965+15A>C) c.13995+15A>C (n.13995+15A>C) c.13911+15A>C (n.13911+15A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38572285A>T | CA2335088477 | RYR1 | c.934+15A>T c.2331+15A>T c.2303+15A>T c.13998+15A>T (n.13998+15A>T) c.13983+15A>T (n.13983+15A>T) c.13980+15A>T (n.13980+15A>T) c.13965+15A>T (n.13965+15A>T) c.13995+15A>T (n.13995+15A>T) c.13911+15A>T (n.13911+15A>T) | dbSNP gnomAD v4 |
| 19 | g.38572286T>C | CA995736140 | RYR1 | c.934+16T>C c.2331+16T>C c.2303+16T>C c.13998+16T>C (n.13998+16T>C) c.13983+16T>C (n.13983+16T>C) c.13980+16T>C (n.13980+16T>C) c.13965+16T>C (n.13965+16T>C) c.13995+16T>C (n.13995+16T>C) c.13911+16T>C (n.13911+16T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38572286T>G | CA2584910052 | RYR1 | c.934+16T>G c.2331+16T>G c.2303+16T>G c.13998+16T>G (n.13998+16T>G) c.13983+16T>G (n.13983+16T>G) c.13980+16T>G (n.13980+16T>G) c.13965+16T>G (n.13965+16T>G) c.13995+16T>G (n.13995+16T>G) c.13911+16T>G (n.13911+16T>G) | gnomAD v4 |
| 19 | g.38572286T= | CA2335088478 | RYR1 | c.934+16T= c.2331+16T= c.2303+16T= c.13998+16T= (n.13998+16T=) c.13983+16T= (n.13983+16T=) c.13980+16T= (n.13980+16T=) c.13965+16T= (n.13965+16T=) c.13995+16T= (n.13995+16T=) c.13911+16T= (n.13911+16T=) | |
| 19 | g.38572287G>C | CA060688 | RYR1 | c.934+17G>C c.2331+17G>C c.2303+17G>C c.13998+17G>C (n.13998+17G>C) c.13983+17G>C (n.13983+17G>C) c.13980+17G>C (n.13980+17G>C) c.13965+17G>C (n.13965+17G>C) c.13995+17G>C (n.13995+17G>C) c.13911+17G>C (n.13911+17G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38572287G= | CA2335088479 | RYR1 | c.934+17G= c.2331+17G= c.2303+17G= c.13998+17G= (n.13998+17G=) c.13983+17G= (n.13983+17G=) c.13980+17G= (n.13980+17G=) c.13965+17G= (n.13965+17G=) c.13995+17G= (n.13995+17G=) c.13911+17G= (n.13911+17G=) | |
| 19 | g.38572290T>C | CA2584910053 | RYR1 | c.934+20T>C c.2331+20T>C c.2303+20T>C c.13998+20T>C (n.13998+20T>C) c.13983+20T>C (n.13983+20T>C) c.13980+20T>C (n.13980+20T>C) c.13965+20T>C (n.13965+20T>C) c.13995+20T>C (n.13995+20T>C) c.13911+20T>C (n.13911+20T>C) | gnomAD v4 |
| 19 | g.38572291C>A | CA2584910055 | RYR1 | c.934+21C>A c.2331+21C>A c.2303+21C>A c.13998+21C>A (n.13998+21C>A) c.13983+21C>A (n.13983+21C>A) c.13980+21C>A (n.13980+21C>A) c.13965+21C>A (n.13965+21C>A) c.13995+21C>A (n.13995+21C>A) c.13911+21C>A (n.13911+21C>A) | gnomAD v4 |
| 19 | g.38572291C= | CA2335088480 | RYR1 | c.934+21C= c.2331+21C= c.2303+21C= c.13998+21C= (n.13998+21C=) c.13983+21C= (n.13983+21C=) c.13980+21C= (n.13980+21C=) c.13965+21C= (n.13965+21C=) c.13995+21C= (n.13995+21C=) c.13911+21C= (n.13911+21C=) | |
| 19 | g.38572291C>G | CA2584910056 | RYR1 | c.934+21C>G c.2331+21C>G c.2303+21C>G c.13998+21C>G (n.13998+21C>G) c.13983+21C>G (n.13983+21C>G) c.13980+21C>G (n.13980+21C>G) c.13965+21C>G (n.13965+21C>G) c.13995+21C>G (n.13995+21C>G) c.13911+21C>G (n.13911+21C>G) | gnomAD v4 |
| 19 | g.38572291C>T | CA633066842 | RYR1 | c.934+21C>T c.2331+21C>T c.2303+21C>T c.13998+21C>T (n.13998+21C>T) c.13983+21C>T (n.13983+21C>T) c.13980+21C>T (n.13980+21C>T) c.13965+21C>T (n.13965+21C>T) c.13995+21C>T (n.13995+21C>T) c.13911+21C>T (n.13911+21C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38572298_38572351del | CA2584910054 | RYR1 | c.934+28_934+81del c.2331+28_2331+81del c.2303+28_2303+81del c.13998+28_13998+81del (n.13998+28_13998+81del) c.13983+28_13983+81del (n.13983+28_13983+81del) c.13980+28_13980+81del (n.13980+28_13980+81del) c.13965+28_13965+81del (n.13965+28_13965+81del) c.13995+28_13995+81del (n.13995+28_13995+81del) c.13911+28_13911+81del (n.13911+28_13911+81del) | gnomAD v4 |
| 19 | g.38572292T>C | CA633066844 | RYR1 | c.934+22T>C c.2331+22T>C c.2303+22T>C c.13998+22T>C (n.13998+22T>C) c.13983+22T>C (n.13983+22T>C) c.13980+22T>C (n.13980+22T>C) c.13965+22T>C (n.13965+22T>C) c.13995+22T>C (n.13995+22T>C) c.13911+22T>C (n.13911+22T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38572292T>G | CA633066843 | RYR1 | c.934+22T>G c.2331+22T>G c.2303+22T>G c.13998+22T>G (n.13998+22T>G) c.13983+22T>G (n.13983+22T>G) c.13980+22T>G (n.13980+22T>G) c.13965+22T>G (n.13965+22T>G) c.13995+22T>G (n.13995+22T>G) c.13911+22T>G (n.13911+22T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38572292T= | CA2335088481 | RYR1 | c.934+22T= c.2331+22T= c.2303+22T= c.13998+22T= (n.13998+22T=) c.13983+22T= (n.13983+22T=) c.13980+22T= (n.13980+22T=) c.13965+22T= (n.13965+22T=) c.13995+22T= (n.13995+22T=) c.13911+22T= (n.13911+22T=) | |
| 19 | g.38572299_38572329del | CA2584910057 | RYR1 | c.934+29_934+59del c.2331+29_2331+59del c.2303+29_2303+59del c.13998+29_13998+59del (n.13998+29_13998+59del) c.13983+29_13983+59del (n.13983+29_13983+59del) c.13980+29_13980+59del (n.13980+29_13980+59del) c.13965+29_13965+59del (n.13965+29_13965+59del) c.13995+29_13995+59del (n.13995+29_13995+59del) c.13911+29_13911+59del (n.13911+29_13911+59del) | gnomAD v4 |
| 19 | g.38572294G>A | CA2584910058 | RYR1 | c.934+24G>A c.2331+24G>A c.2303+24G>A c.13998+24G>A (n.13998+24G>A) c.13983+24G>A (n.13983+24G>A) c.13980+24G>A (n.13980+24G>A) c.13965+24G>A (n.13965+24G>A) c.13995+24G>A (n.13995+24G>A) c.13911+24G>A (n.13911+24G>A) | gnomAD v4 |
| 19 | g.38572294G>T | CA2584910059 | RYR1 | c.934+24G>T c.2331+24G>T c.2303+24G>T c.13998+24G>T (n.13998+24G>T) c.13983+24G>T (n.13983+24G>T) c.13980+24G>T (n.13980+24G>T) c.13965+24G>T (n.13965+24G>T) c.13995+24G>T (n.13995+24G>T) c.13911+24G>T (n.13911+24G>T) | gnomAD v4 |
| 19 | g.38572295G>C | CA060689 | RYR1 | c.934+25G>C c.2331+25G>C c.2303+25G>C c.13998+25G>C (n.13998+25G>C) c.13983+25G>C (n.13983+25G>C) c.13980+25G>C (n.13980+25G>C) c.13965+25G>C (n.13965+25G>C) c.13995+25G>C (n.13995+25G>C) c.13911+25G>C (n.13911+25G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38572295G= | CA2335088482 | RYR1 | c.934+25G= c.2331+25G= c.2303+25G= c.13998+25G= (n.13998+25G=) c.13983+25G= (n.13983+25G=) c.13980+25G= (n.13980+25G=) c.13965+25G= (n.13965+25G=) c.13995+25G= (n.13995+25G=) c.13911+25G= (n.13911+25G=) | |
| 19 | g.38572296G>T | CA2584910060 | RYR1 | c.934+26G>T c.2331+26G>T c.2303+26G>T c.13998+26G>T (n.13998+26G>T) c.13983+26G>T (n.13983+26G>T) c.13980+26G>T (n.13980+26G>T) c.13965+26G>T (n.13965+26G>T) c.13995+26G>T (n.13995+26G>T) c.13911+26G>T (n.13911+26G>T) | gnomAD v4 |
| 19 | g.38572296_38572297delinsGC | CA2335088483 | RYR1 | c.934+26_934+27delinsGC c.2331+26_2331+27delinsGC c.2303+26_2303+27delinsGC c.13998+26_13998+27delinsGC (n.13998+26_13998+27delinsGC) c.13983+26_13983+27delinsGC (n.13983+26_13983+27delinsGC) c.13980+26_13980+27delinsGC (n.13980+26_13980+27delinsGC) c.13965+26_13965+27delinsGC (n.13965+26_13965+27delinsGC) c.13995+26_13995+27delinsGC (n.13995+26_13995+27delinsGC) c.13911+26_13911+27delinsGC (n.13911+26_13911+27delinsGC) | |
| 19 | g.38572297del | CA060694 | RYR1 | c.934+27del c.2331+27del c.2303+27del c.13998+27del (n.13998+27del) c.13983+27del (n.13983+27del) c.13980+27del (n.13980+27del) c.13965+27del (n.13965+27del) c.13995+27del (n.13995+27del) c.13911+27del (n.13911+27del) | dbSNP ExAC gnomAD v2 |
| 19 | g.38572297C>A | CA633066845 | RYR1 | c.934+27C>A c.2331+27C>A c.2303+27C>A c.13998+27C>A (n.13998+27C>A) c.13983+27C>A (n.13983+27C>A) c.13980+27C>A (n.13980+27C>A) c.13965+27C>A (n.13965+27C>A) c.13995+27C>A (n.13995+27C>A) c.13911+27C>A (n.13911+27C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38572297C= | CA2335088484 | RYR1 | c.934+27C= c.2331+27C= c.2303+27C= c.13998+27C= (n.13998+27C=) c.13983+27C= (n.13983+27C=) c.13980+27C= (n.13980+27C=) c.13965+27C= (n.13965+27C=) c.13995+27C= (n.13995+27C=) c.13911+27C= (n.13911+27C=) | |
| 19 | g.38572297C>G | CA633066846 | RYR1 | c.934+27C>G c.2331+27C>G c.2303+27C>G c.13998+27C>G (n.13998+27C>G) c.13983+27C>G (n.13983+27C>G) c.13980+27C>G (n.13980+27C>G) c.13965+27C>G (n.13965+27C>G) c.13995+27C>G (n.13995+27C>G) c.13911+27C>G (n.13911+27C>G) | dbSNP gnomAD v2 |
| 19 | g.38572298A>G | CA2576772229 | RYR1 | c.934+28A>G c.2331+28A>G c.2303+28A>G c.13998+28A>G (n.13998+28A>G) c.13983+28A>G (n.13983+28A>G) c.13980+28A>G (n.13980+28A>G) c.13965+28A>G (n.13965+28A>G) c.13995+28A>G (n.13995+28A>G) c.13911+28A>G (n.13911+28A>G) | |
| 19 | g.38572299A= | CA2335088485 | RYR1 | c.934+29A= c.2331+29A= c.2303+29A= c.13998+29A= (n.13998+29A=) c.13983+29A= (n.13983+29A=) c.13980+29A= (n.13980+29A=) c.13965+29A= (n.13965+29A=) c.13995+29A= (n.13995+29A=) c.13911+29A= (n.13911+29A=) | |
| 19 | g.38572299A>C | CA2584910061 | RYR1 | c.934+29A>C c.2331+29A>C c.2303+29A>C c.13998+29A>C (n.13998+29A>C) c.13983+29A>C (n.13983+29A>C) c.13980+29A>C (n.13980+29A>C) c.13965+29A>C (n.13965+29A>C) c.13995+29A>C (n.13995+29A>C) c.13911+29A>C (n.13911+29A>C) | gnomAD v4 |
| 19 | g.38572299A>G | CA633066847 | RYR1 | c.934+29A>G c.2331+29A>G c.2303+29A>G c.13998+29A>G (n.13998+29A>G) c.13983+29A>G (n.13983+29A>G) c.13980+29A>G (n.13980+29A>G) c.13965+29A>G (n.13965+29A>G) c.13995+29A>G (n.13995+29A>G) c.13911+29A>G (n.13911+29A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38572299A>T | CA2576772230 | RYR1 | c.934+29A>T c.2331+29A>T c.2303+29A>T c.13998+29A>T (n.13998+29A>T) c.13983+29A>T (n.13983+29A>T) c.13980+29A>T (n.13980+29A>T) c.13965+29A>T (n.13965+29A>T) c.13995+29A>T (n.13995+29A>T) c.13911+29A>T (n.13911+29A>T) | gnomAD v4 |
| 19 | g.38572300G>A | CA633066848 | RYR1 | c.934+30G>A c.2331+30G>A c.2303+30G>A c.13998+30G>A (n.13998+30G>A) c.13983+30G>A (n.13983+30G>A) c.13980+30G>A (n.13980+30G>A) c.13965+30G>A (n.13965+30G>A) c.13995+30G>A (n.13995+30G>A) c.13911+30G>A (n.13911+30G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38572300G>C | CA060695 | RYR1 | c.934+30G>C c.2331+30G>C c.2303+30G>C c.13998+30G>C (n.13998+30G>C) c.13983+30G>C (n.13983+30G>C) c.13980+30G>C (n.13980+30G>C) c.13965+30G>C (n.13965+30G>C) c.13995+30G>C (n.13995+30G>C) c.13911+30G>C (n.13911+30G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38572300G= | CA2335088486 | RYR1 | c.934+30G= c.2331+30G= c.2303+30G= c.13998+30G= (n.13998+30G=) c.13983+30G= (n.13983+30G=) c.13980+30G= (n.13980+30G=) c.13965+30G= (n.13965+30G=) c.13995+30G= (n.13995+30G=) c.13911+30G= (n.13911+30G=) | |
| 19 | g.38572300G>T | CA2584910062 | RYR1 | c.934+30G>T c.2331+30G>T c.2303+30G>T c.13998+30G>T (n.13998+30G>T) c.13983+30G>T (n.13983+30G>T) c.13980+30G>T (n.13980+30G>T) c.13965+30G>T (n.13965+30G>T) c.13995+30G>T (n.13995+30G>T) c.13911+30G>T (n.13911+30G>T) | gnomAD v4 |
| 19 | g.38572301G>A | CA2584910063 | RYR1 | c.934+31G>A c.2331+31G>A c.2303+31G>A c.13998+31G>A (n.13998+31G>A) c.13983+31G>A (n.13983+31G>A) c.13980+31G>A (n.13980+31G>A) c.13965+31G>A (n.13965+31G>A) c.13995+31G>A (n.13995+31G>A) c.13911+31G>A (n.13911+31G>A) | gnomAD v4 |
| 19 | g.38572301G>T | CA2584910064 | RYR1 | c.934+31G>T c.2331+31G>T c.2303+31G>T c.13998+31G>T (n.13998+31G>T) c.13983+31G>T (n.13983+31G>T) c.13980+31G>T (n.13980+31G>T) c.13965+31G>T (n.13965+31G>T) c.13995+31G>T (n.13995+31G>T) c.13911+31G>T (n.13911+31G>T) | gnomAD v4 |
| 19 | g.38572302G>A | CA2584910065 | RYR1 | c.934+32G>A c.2331+32G>A c.2303+32G>A c.13998+32G>A (n.13998+32G>A) c.13983+32G>A (n.13983+32G>A) c.13980+32G>A (n.13980+32G>A) c.13965+32G>A (n.13965+32G>A) c.13995+32G>A (n.13995+32G>A) c.13911+32G>A (n.13911+32G>A) | gnomAD v4 |
| 19 | g.38572302G>C | CA308114219 | RYR1 | c.934+32G>C c.2331+32G>C c.2303+32G>C c.13998+32G>C (n.13998+32G>C) c.13983+32G>C (n.13983+32G>C) c.13980+32G>C (n.13980+32G>C) c.13965+32G>C (n.13965+32G>C) c.13995+32G>C (n.13995+32G>C) c.13911+32G>C (n.13911+32G>C) | dbSNP gnomAD v4 |
| 19 | g.38572302G= | CA2335088487 | RYR1 | c.934+32G= c.2331+32G= c.2303+32G= c.13998+32G= (n.13998+32G=) c.13983+32G= (n.13983+32G=) c.13980+32G= (n.13980+32G=) c.13965+32G= (n.13965+32G=) c.13995+32G= (n.13995+32G=) c.13911+32G= (n.13911+32G=) | |
| 19 | g.38572302G>T | CA2584910066 | RYR1 | c.934+32G>T c.2331+32G>T c.2303+32G>T c.13998+32G>T (n.13998+32G>T) c.13983+32G>T (n.13983+32G>T) c.13980+32G>T (n.13980+32G>T) c.13965+32G>T (n.13965+32G>T) c.13995+32G>T (n.13995+32G>T) c.13911+32G>T (n.13911+32G>T) | gnomAD v4 |
| 19 | g.38572303C>A | CA2584910067 | RYR1 | c.934+33C>A c.2331+33C>A c.2303+33C>A c.13998+33C>A (n.13998+33C>A) c.13983+33C>A (n.13983+33C>A) c.13980+33C>A (n.13980+33C>A) c.13965+33C>A (n.13965+33C>A) c.13995+33C>A (n.13995+33C>A) c.13911+33C>A (n.13911+33C>A) | gnomAD v4 |
| 19 | g.38572303C= | CA2335088488 | RYR1 | c.934+33C= c.2331+33C= c.2303+33C= c.13998+33C= (n.13998+33C=) c.13983+33C= (n.13983+33C=) c.13980+33C= (n.13980+33C=) c.13965+33C= (n.13965+33C=) c.13995+33C= (n.13995+33C=) c.13911+33C= (n.13911+33C=) | |
| 19 | g.38572303C>G | CA633066849 | RYR1 | c.934+33C>G c.2331+33C>G c.2303+33C>G c.13998+33C>G (n.13998+33C>G) c.13983+33C>G (n.13983+33C>G) c.13980+33C>G (n.13980+33C>G) c.13965+33C>G (n.13965+33C>G) c.13995+33C>G (n.13995+33C>G) c.13911+33C>G (n.13911+33C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38572303C>T | CA633066850 | RYR1 | c.934+33C>T c.2331+33C>T c.2303+33C>T c.13998+33C>T (n.13998+33C>T) c.13983+33C>T (n.13983+33C>T) c.13980+33C>T (n.13980+33C>T) c.13965+33C>T (n.13965+33C>T) c.13995+33C>T (n.13995+33C>T) c.13911+33C>T (n.13911+33C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38572304T>C | CA995736152 | RYR1 | c.934+34T>C c.2331+34T>C c.2303+34T>C c.13998+34T>C (n.13998+34T>C) c.13983+34T>C (n.13983+34T>C) c.13980+34T>C (n.13980+34T>C) c.13965+34T>C (n.13965+34T>C) c.13995+34T>C (n.13995+34T>C) c.13911+34T>C (n.13911+34T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38572304T>G | CA2814348049 | RYR1 | c.934+34T>G c.2331+34T>G c.2303+34T>G c.13998+34T>G (n.13998+34T>G) c.13983+34T>G (n.13983+34T>G) c.13980+34T>G (n.13980+34T>G) c.13965+34T>G (n.13965+34T>G) c.13995+34T>G (n.13995+34T>G) c.13911+34T>G (n.13911+34T>G) | |
| 19 | g.38572304T= | CA2335088489 | RYR1 | c.934+34T= c.2331+34T= c.2303+34T= c.13998+34T= (n.13998+34T=) c.13983+34T= (n.13983+34T=) c.13980+34T= (n.13980+34T=) c.13965+34T= (n.13965+34T=) c.13995+34T= (n.13995+34T=) c.13911+34T= (n.13911+34T=) | |
| 19 | g.38572305del | CA2584910068 | RYR1 | c.934+35del c.2331+35del c.2303+35del c.13998+35del (n.13998+35del) c.13983+35del (n.13983+35del) c.13980+35del (n.13980+35del) c.13965+35del (n.13965+35del) c.13995+35del (n.13995+35del) c.13911+35del (n.13911+35del) | gnomAD v4 |
| 19 | g.38572305T>A | CA10587335 | RYR1 | c.934+35T>A c.2331+35T>A c.2303+35T>A c.13998+35T>A (n.13998+35T>A) c.13983+35T>A (n.13983+35T>A) c.13980+35T>A (n.13980+35T>A) c.13965+35T>A (n.13965+35T>A) c.13995+35T>A (n.13995+35T>A) c.13911+35T>A (n.13911+35T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38572305T>C | CA2584910069 | RYR1 | c.934+35T>C c.2331+35T>C c.2303+35T>C c.13998+35T>C (n.13998+35T>C) c.13983+35T>C (n.13983+35T>C) c.13980+35T>C (n.13980+35T>C) c.13965+35T>C (n.13965+35T>C) c.13995+35T>C (n.13995+35T>C) c.13911+35T>C (n.13911+35T>C) | gnomAD v4 |
| 19 | g.38572305T>G | CA2584910070 | RYR1 | c.934+35T>G c.2331+35T>G c.2303+35T>G c.13998+35T>G (n.13998+35T>G) c.13983+35T>G (n.13983+35T>G) c.13980+35T>G (n.13980+35T>G) c.13965+35T>G (n.13965+35T>G) c.13995+35T>G (n.13995+35T>G) c.13911+35T>G (n.13911+35T>G) | gnomAD v4 |
| 19 | g.38572305T= | CA2335088490 | RYR1 | c.934+35T= c.2331+35T= c.2303+35T= c.13998+35T= (n.13998+35T=) c.13983+35T= (n.13983+35T=) c.13980+35T= (n.13980+35T=) c.13965+35T= (n.13965+35T=) c.13995+35T= (n.13995+35T=) c.13911+35T= (n.13911+35T=) | |
| 19 | g.38572306A= | CA2335088491 | RYR1 | c.934+36A= c.2331+36A= c.2303+36A= c.13998+36A= (n.13998+36A=) c.13983+36A= (n.13983+36A=) c.13980+36A= (n.13980+36A=) c.13965+36A= (n.13965+36A=) c.13995+36A= (n.13995+36A=) c.13911+36A= (n.13911+36A=) | |
| 19 | g.38572306A>C | CA2584910071 | RYR1 | c.934+36A>C c.2331+36A>C c.2303+36A>C c.13998+36A>C (n.13998+36A>C) c.13983+36A>C (n.13983+36A>C) c.13980+36A>C (n.13980+36A>C) c.13965+36A>C (n.13965+36A>C) c.13995+36A>C (n.13995+36A>C) c.13911+36A>C (n.13911+36A>C) | gnomAD v4 |
| 19 | g.38572306A>G | CA2584910072 | RYR1 | c.934+36A>G c.2331+36A>G c.2303+36A>G c.13998+36A>G (n.13998+36A>G) c.13983+36A>G (n.13983+36A>G) c.13980+36A>G (n.13980+36A>G) c.13965+36A>G (n.13965+36A>G) c.13995+36A>G (n.13995+36A>G) c.13911+36A>G (n.13911+36A>G) | gnomAD v4 |
| 19 | g.38572306A>T | CA633066851 | RYR1 | c.934+36A>T c.2331+36A>T c.2303+36A>T c.13998+36A>T (n.13998+36A>T) c.13983+36A>T (n.13983+36A>T) c.13980+36A>T (n.13980+36A>T) c.13965+36A>T (n.13965+36A>T) c.13995+36A>T (n.13995+36A>T) c.13911+36A>T (n.13911+36A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38572306_38572307insAC | CA2814348052 | RYR1 | c.934+36_934+37insAC c.2331+36_2331+37insAC c.2303+36_2303+37insAC c.13998+36_13998+37insAC (n.13998+36_13998+37insAC) c.13983+36_13983+37insAC (n.13983+36_13983+37insAC) c.13980+36_13980+37insAC (n.13980+36_13980+37insAC) c.13965+36_13965+37insAC (n.13965+36_13965+37insAC) c.13995+36_13995+37insAC (n.13995+36_13995+37insAC) c.13911+36_13911+37insAC (n.13911+36_13911+37insAC) | |
| 19 | g.38572307T>G | CA2584910073 | RYR1 | c.934+37T>G c.2331+37T>G c.2303+37T>G c.13998+37T>G (n.13998+37T>G) c.13983+37T>G (n.13983+37T>G) c.13980+37T>G (n.13980+37T>G) c.13965+37T>G (n.13965+37T>G) c.13995+37T>G (n.13995+37T>G) c.13911+37T>G (n.13911+37T>G) | gnomAD v4 |
| 19 | g.38572308T>G | CA633066852 | RYR1 | c.934+38T>G c.2331+38T>G c.2303+38T>G c.13998+38T>G (n.13998+38T>G) c.13983+38T>G (n.13983+38T>G) c.13980+38T>G (n.13980+38T>G) c.13965+38T>G (n.13965+38T>G) c.13995+38T>G (n.13995+38T>G) c.13911+38T>G (n.13911+38T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38572308T= | CA2335088492 | RYR1 | c.934+38T= c.2331+38T= c.2303+38T= c.13998+38T= (n.13998+38T=) c.13983+38T= (n.13983+38T=) c.13980+38T= (n.13980+38T=) c.13965+38T= (n.13965+38T=) c.13995+38T= (n.13995+38T=) c.13911+38T= (n.13911+38T=) | |
| 19 | g.38572316_38572349del | CA2584910075 | RYR1 | c.934+46_934+79del c.2331+46_2331+79del c.2303+46_2303+79del c.13998+46_13998+79del (n.13998+46_13998+79del) c.13983+46_13983+79del (n.13983+46_13983+79del) c.13980+46_13980+79del (n.13980+46_13980+79del) c.13965+46_13965+79del (n.13965+46_13965+79del) c.13995+46_13995+79del (n.13995+46_13995+79del) c.13911+46_13911+79del (n.13911+46_13911+79del) | gnomAD v4 |
| 19 | g.38572311_38572369del | CA2584910074 | RYR1 | c.934+41_934+99del c.2331+41_2331+99del c.2303+41_2303+99del c.13998+41_13998+99del (n.13998+41_13998+99del) c.13983+41_13983+99del (n.13983+41_13983+99del) c.13980+41_13980+99del (n.13980+41_13980+99del) c.13965+41_13965+99del (n.13965+41_13965+99del) c.13995+41_13995+99del (n.13995+41_13995+99del) c.13911+41_13911+99del (n.13911+41_13911+99del) | gnomAD v4 |