Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38496459T>A | CA405666269 | RYR1 | c.6714T>A (p.Tyr2238Ter) c.6711T>A (p.Tyr2237Ter) c.166T>A n.6797T>A | |
19 | g.38496459T>C | CA507353660 | RYR1 | c.6714T>C (p.Tyr2238=) c.6711T>C (p.Tyr2237=) c.166T>C n.6797T>C | |
19 | g.38496459T>G | CA405666270 | RYR1 | c.6714T>G (p.Tyr2238Ter) c.6711T>G (p.Tyr2237Ter) c.166T>G n.6797T>G | |
19 | g.38496460T>A | CA405666271 | RYR1 | c.6715T>A (p.Phe2239Ile) c.6712T>A (p.Phe2238Ile) c.167T>A n.6798T>A | |
19 | g.38496460T>C | CA405666272 | RYR1 | c.6715T>C (p.Phe2239Leu) c.6712T>C (p.Phe2238Leu) c.167T>C n.6798T>C | ClinVar gnomAD v4 |
19 | g.38496460T>G | CA405666273 | RYR1 | c.6715T>G (p.Phe2239Val) c.6712T>G (p.Phe2238Val) c.167T>G n.6798T>G | |
19 | g.38496461T>A | CA405666275 | RYR1 | c.6716T>A (p.Phe2239Tyr) c.6713T>A (p.Phe2238Tyr) c.168T>A n.6799T>A | |
19 | g.38496461T>C | CA405666276 | RYR1 | c.6716T>C (p.Phe2239Ser) c.6713T>C (p.Phe2238Ser) c.168T>C n.6799T>C | |
19 | g.38496461T>G | CA405666274 | RYR1 | c.6716T>G (p.Phe2239Cys) c.6713T>G (p.Phe2238Cys) c.168T>G n.6799T>G | ClinVar gnomAD v4 |
19 | g.38496462C>A | CA405666277 | RYR1 | c.6717C>A (p.Phe2239Leu) c.6714C>A (p.Phe2238Leu) c.169C>A n.6800C>A | |
19 | g.38496462C= | CA2335051251 | RYR1 | c.6717C= (p.Phe2239=) c.6714C= (p.Phe2238=) c.169C= n.6800C= | |
19 | g.38496462C>G | CA068582 | RYR1 | c.6717C>G (p.Phe2239Leu) c.6714C>G (p.Phe2238Leu) c.169C>G n.6800C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38496462C>T | CA308104342 | RYR1 | c.6717C>T (p.Phe2239=) c.6714C>T (p.Phe2238=) c.169C>T n.6800C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38496463T>A | CA405666278 | RYR1 | c.6718T>A (p.Cys2240Ser) c.6715T>A (p.Cys2239Ser) c.170T>A n.6801T>A | |
19 | g.38496463T>C | CA405666279 | RYR1 | c.6718T>C (p.Cys2240Arg) c.6715T>C (p.Cys2239Arg) c.170T>C n.6801T>C | |
19 | g.38496463T>G | CA405666280 | RYR1 | c.6718T>G (p.Cys2240Gly) c.6715T>G (p.Cys2239Gly) c.170T>G n.6801T>G | |
19 | g.38496464G>A | CA405666281 | RYR1 | c.6719G>A (p.Cys2240Tyr) c.6716G>A (p.Cys2239Tyr) c.171G>A n.6802G>A | |
19 | g.38496464G>C | CA405666282 | RYR1 | c.6719G>C (p.Cys2240Ser) c.6716G>C (p.Cys2239Ser) c.171G>C n.6802G>C | |
19 | g.38496464G>T | CA405666283 | RYR1 | c.6719G>T (p.Cys2240Phe) c.6716G>T (p.Cys2239Phe) c.171G>T n.6802G>T | ClinVar dbSNP |
19 | g.38496465C>A | CA405666284 | RYR1 | c.6720C>A (p.Cys2240Ter) c.6717C>A (p.Cys2239Ter) c.172C>A n.6803C>A | |
19 | g.38496465C>G | CA082172 | RYR1 | c.6720C>G (p.Cys2240Trp) c.6717C>G (p.Cys2239Trp) c.172C>G n.6803C>G | |
19 | g.38496465C>T | CA507353662 | RYR1 | c.6720C>T (p.Cys2240=) c.6717C>T (p.Cys2239=) c.172C>T n.6803C>T | |
19 | g.38496466C>A | CA507353663 | RYR1 | c.6721C>A (p.Arg2241=) c.6718C>A (p.Arg2240=) c.173C>A n.6804C>A | |
19 | g.38496466C= | CA2335051252 | RYR1 | c.6721C= (p.Arg2241=) c.6718C= (p.Arg2240=) c.173C= n.6804C= | |
19 | g.38496466C>G | CA068590 | RYR1 | c.6721C>G (p.Arg2241Gly) c.6718C>G (p.Arg2240Gly) c.173C>G n.6804C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496466C>T | CA024643 | RYR1 | c.6721C>T (p.Arg2241Ter) c.6718C>T (p.Arg2240Ter) c.173C>T n.6804C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38496467G>A | CA068594 | RYR1 | c.6722G>A (p.Arg2241Gln) c.6719G>A (p.Arg2240Gln) c.174G>A n.6805G>A | ClinVar dbSNP ExAC gnomAD v4 |
19 | g.38496467G>C | CA405666285 | RYR1 | c.6722G>C (p.Arg2241Pro) c.6719G>C (p.Arg2240Pro) c.174G>C n.6805G>C | |
19 | g.38496467G= | CA2335051253 | RYR1 | c.6722G= (p.Arg2241=) c.6719G= (p.Arg2240=) c.174G= n.6805G= | |
19 | g.38496467G>T | CA068600 | RYR1 | c.6722G>T (p.Arg2241Leu) c.6719G>T (p.Arg2240Leu) c.174G>T n.6805G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38496468A>C | CA507353664 | RYR1 | c.6723A>C (p.Arg2241=) c.6720A>C (p.Arg2240=) c.175A>C n.6806A>C | |
19 | g.38496468A>G | CA507353665 | RYR1 | c.6723A>G (p.Arg2241=) c.6720A>G (p.Arg2240=) c.175A>G n.6806A>G | ClinVar |
19 | g.38496468A>T | CA507353666 | RYR1 | c.6723A>T (p.Arg2241=) c.6720A>T (p.Arg2240=) c.175A>T n.6806A>T | |
19 | g.38496469dup | CA920105658 | RYR1 | c.6724dup (p.Ile2242AsnfsTer11) c.6721dup (p.Ile2241AsnfsTer11) c.176dup n.6807dup | dbSNP |
19 | g.38496469A>C | CA405666286 | RYR1 | c.6724A>C (p.Ile2242Leu) c.6721A>C (p.Ile2241Leu) c.176A>C n.6807A>C | |
19 | g.38496469A>G | CA405666287 | RYR1 | c.6724A>G (p.Ile2242Val) c.6721A>G (p.Ile2241Val) c.176A>G n.6807A>G | gnomAD v4 |
19 | g.38496469A>T | CA405666288 | RYR1 | c.6724A>T (p.Ile2242Phe) c.6721A>T (p.Ile2241Phe) c.176A>T n.6807A>T | |
19 | g.38496470T>A | CA405666289 | RYR1 | c.6725T>A (p.Ile2242Asn) c.6722T>A (p.Ile2241Asn) c.177T>A n.6808T>A | |
19 | g.38496470T>C | CA405666290 | RYR1 | c.6725T>C (p.Ile2242Thr) c.6722T>C (p.Ile2241Thr) c.177T>C n.6808T>C | |
19 | g.38496470T>G | CA405666291 | RYR1 | c.6725T>G (p.Ile2242Ser) c.6722T>G (p.Ile2241Ser) c.177T>G n.6808T>G | |
19 | g.38496471C>A | CA507353668 | RYR1 | c.6726C>A (p.Ile2242=) c.6723C>A (p.Ile2241=) c.178C>A n.6809C>A | |
19 | g.38496471C= | CA2335051254 | RYR1 | c.6726C= (p.Ile2242=) c.6723C= (p.Ile2241=) c.178C= n.6809C= | |
19 | g.38496471C>G | CA068603 | RYR1 | c.6726C>G (p.Ile2242Met) c.6723C>G (p.Ile2241Met) c.178C>G n.6809C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38496471C>T | CA507353669 | RYR1 | c.6726C>T (p.Ile2242=) c.6723C>T (p.Ile2241=) c.178C>T n.6809C>T | |
19 | g.38496472A= | CA2335051255 | RYR1 | c.6727A= (p.Ser2243=) c.6724A= (p.Ser2242=) c.179A= n.6810A= | |
19 | g.38496472A>C | CA405666292 | RYR1 | c.6727A>C (p.Ser2243Arg) c.6724A>C (p.Ser2242Arg) c.179A>C n.6810A>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38496472A>G | CA405666293 | RYR1 | c.6727A>G (p.Ser2243Gly) c.6724A>G (p.Ser2242Gly) c.179A>G n.6810A>G | |
19 | g.38496472A>T | CA405666294 | RYR1 | c.6727A>T (p.Ser2243Cys) c.6724A>T (p.Ser2242Cys) c.179A>T n.6810A>T | |
19 | g.38496473G>A | CA405666295 | RYR1 | c.6728G>A (p.Ser2243Asn) c.6725G>A (p.Ser2242Asn) c.180G>A n.6811G>A | |
19 | g.38496473G>C | CA405666296 | RYR1 | c.6728G>C (p.Ser2243Thr) c.6725G>C (p.Ser2242Thr) c.180G>C n.6811G>C | |
19 | g.38496473G>T | CA405666297 | RYR1 | c.6728G>T (p.Ser2243Ile) c.6725G>T (p.Ser2242Ile) c.180G>T n.6811G>T | |
19 | g.38496474C>A | CA405666298 | RYR1 | c.6729C>A (p.Ser2243Arg) c.6726C>A (p.Ser2242Arg) c.181C>A n.6812C>A | |
19 | g.38496474C>G | CA082177 | RYR1 | c.6729C>G (p.Ser2243Arg) c.6726C>G (p.Ser2242Arg) c.181C>G n.6812C>G | |
19 | g.38496474C>T | CA507353670 | RYR1 | c.6729C>T (p.Ser2243=) c.6726C>T (p.Ser2242=) c.181C>T n.6812C>T | gnomAD v4 |
19 | g.38496475C>A | CA507353671 | RYR1 | c.6730C>A (p.Arg2244=) c.6727C>A (p.Arg2243=) c.182C>A n.6813C>A | ClinVar |
19 | g.38496475C= | CA2335051256 | RYR1 | c.6730C= (p.Arg2244=) c.6727C= (p.Arg2243=) c.182C= n.6813C= | |
19 | g.38496475C>G | CA405666299 | RYR1 | c.6730C>G (p.Arg2244Gly) c.6727C>G (p.Arg2243Gly) c.182C>G n.6813C>G | |
19 | g.38496475C>T | CA068607 | RYR1 | c.6730C>T (p.Arg2244Trp) c.6727C>T (p.Arg2243Trp) c.182C>T n.6813C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496476G>A | CA068612 | RYR1 | c.6731G>A (p.Arg2244Gln) c.6728G>A (p.Arg2243Gln) c.183G>A n.6814G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38496476G>C | CA308104382 | RYR1 | c.6731G>C (p.Arg2244Pro) c.6728G>C (p.Arg2243Pro) c.183G>C n.6814G>C | dbSNP gnomAD v4 |
19 | g.38496476G= | CA2335051257 | RYR1 | c.6731G= (p.Arg2244=) c.6728G= (p.Arg2243=) c.183G= n.6814G= | |
19 | g.38496476G>T | CA405666300 | RYR1 | c.6731G>T (p.Arg2244Leu) c.6728G>T (p.Arg2243Leu) c.183G>T n.6814G>T | COSMIC |
19 | g.38496477G>A | CA068616 | RYR1 | c.6732G>A (p.Arg2244=) c.6729G>A (p.Arg2243=) c.184G>A n.6815G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496477G>C | CA507353672 | RYR1 | c.6732G>C (p.Arg2244=) c.6729G>C (p.Arg2243=) c.184G>C n.6815G>C | |
19 | g.38496477G= | CA2335051258 | RYR1 | c.6732G= (p.Arg2244=) c.6729G= (p.Arg2243=) c.184G= n.6815G= | |
19 | g.38496477G>T | CA507353673 | RYR1 | c.6732G>T (p.Arg2244=) c.6729G>T (p.Arg2243=) c.184G>T n.6815G>T | |
19 | g.38496478C>A | CA405666301 | RYR1 | c.6733C>A (p.Gln2245Lys) c.6730C>A (p.Gln2244Lys) c.185C>A n.6816C>A | |
19 | g.38496478C= | CA2335051259 | RYR1 | c.6733C= (p.Gln2245=) c.6730C= (p.Gln2244=) c.185C= n.6816C= | |
19 | g.38496478C>G | CA405666302 | RYR1 | c.6733C>G (p.Gln2245Glu) c.6730C>G (p.Gln2244Glu) c.185C>G n.6816C>G | |
19 | g.38496478C>T | CA082178 | RYR1 | c.6733C>T (p.Gln2245Ter) c.6730C>T (p.Gln2244Ter) c.185C>T n.6816C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38496479A>C | CA405666303 | RYR1 | c.6734A>C (p.Gln2245Pro) c.6731A>C (p.Gln2244Pro) c.186A>C n.6817A>C | |
19 | g.38496479A>G | CA405666304 | RYR1 | c.6734A>G (p.Gln2245Arg) c.6731A>G (p.Gln2244Arg) c.186A>G n.6817A>G | gnomAD v4 |
19 | g.38496479A>T | CA405666305 | RYR1 | c.6734A>T (p.Gln2245Leu) c.6731A>T (p.Gln2244Leu) c.186A>T n.6817A>T | |
19 | g.38496480G>A | CA082180 | RYR1 | c.6735G>A (p.Gln2245=) c.6732G>A (p.Gln2244=) c.187G>A n.6818G>A | |
19 | g.38496480G>C | CA405666306 | RYR1 | c.6735G>C (p.Gln2245His) c.6732G>C (p.Gln2244His) c.187G>C n.6818G>C | |
19 | g.38496480G>T | CA405666307 | RYR1 | c.6735G>T (p.Gln2245His) c.6732G>T (p.Gln2244His) c.187G>T n.6818G>T | |
19 | g.38496481A>C | CA405666310 | RYR1 | c.6736A>C (p.Asn2246His) c.6733A>C (p.Asn2245His) c.188A>C n.6819A>C | |
19 | g.38496481A>G | CA405666309 | RYR1 | c.6736A>G (p.Asn2246Asp) c.6733A>G (p.Asn2245Asp) c.188A>G n.6819A>G | |
19 | g.38496481A>T | CA405666308 | RYR1 | c.6736A>T (p.Asn2246Tyr) c.6733A>T (p.Asn2245Tyr) c.188A>T n.6819A>T | |
19 | g.38496482A>C | CA405666311 | RYR1 | c.6737A>C (p.Asn2246Thr) c.6734A>C (p.Asn2245Thr) c.189A>C n.6820A>C | |
19 | g.38496482A>G | CA405666312 | RYR1 | c.6737A>G (p.Asn2246Ser) c.6734A>G (p.Asn2245Ser) c.189A>G n.6820A>G | |
19 | g.38496482A>T | CA405666313 | RYR1 | c.6737A>T (p.Asn2246Ile) c.6734A>T (p.Asn2245Ile) c.189A>T n.6820A>T | |
19 | g.38496483C>A | CA405666314 | RYR1 | c.6738C>A (p.Asn2246Lys) c.6735C>A (p.Asn2245Lys) c.190C>A n.6821C>A | |
19 | g.38496483C= | CA2335051260 | RYR1 | c.6738C= (p.Asn2246=) c.6735C= (p.Asn2245=) c.190C= n.6821C= | |
19 | g.38496483C>G | CA405666315 | RYR1 | c.6738C>G (p.Asn2246Lys) c.6735C>G (p.Asn2245Lys) c.190C>G n.6821C>G | |
19 | g.38496483C>T | CA507353675 | RYR1 | c.6738C>T (p.Asn2246=) c.6735C>T (p.Asn2245=) c.190C>T n.6821C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38496484C>A | CA405666316 | RYR1 | c.6739C>A (p.Gln2247Lys) c.6736C>A (p.Gln2246Lys) c.191C>A n.6822C>A | gnomAD v4 |
19 | g.38496484C>G | CA405666317 | RYR1 | c.6739C>G (p.Gln2247Glu) c.6736C>G (p.Gln2246Glu) c.191C>G n.6822C>G | |
19 | g.38496484C>T | CA405666318 | RYR1 | c.6739C>T (p.Gln2247Ter) c.6736C>T (p.Gln2246Ter) c.191C>T n.6822C>T | gnomAD v4 |
19 | g.38496485A= | CA2335051261 | RYR1 | c.6740A= (p.Gln2247=) c.6737A= (p.Gln2246=) c.192A= n.6823A= | |
19 | g.38496485A>C | CA405666319 | RYR1 | c.6740A>C (p.Gln2247Pro) c.6737A>C (p.Gln2246Pro) c.192A>C n.6823A>C | |
19 | g.38496485A>G | CA068620 | RYR1 | c.6740A>G (p.Gln2247Arg) c.6737A>G (p.Gln2246Arg) c.192A>G n.6823A>G | dbSNP ExAC gnomAD v2 |
19 | g.38496485A>T | CA405666320 | RYR1 | c.6740A>T (p.Gln2247Leu) c.6737A>T (p.Gln2246Leu) c.192A>T n.6823A>T | |
19 | g.38496486G>A | CA507353677 | RYR1 | c.6741G>A (p.Gln2247=) c.6738G>A (p.Gln2246=) c.193G>A n.6824G>A | |
19 | g.38496486G>C | CA405666321 | RYR1 | c.6741G>C (p.Gln2247His) c.6738G>C (p.Gln2246His) c.193G>C n.6824G>C | |
19 | g.38496486G>T | CA405666322 | RYR1 | c.6741G>T (p.Gln2247His) c.6738G>T (p.Gln2246His) c.193G>T n.6824G>T | |
19 | g.38496487C>A | CA405666323 | RYR1 | c.6742C>A (p.Arg2248Ser) c.6739C>A (p.Arg2247Ser) c.194C>A n.6825C>A | |
19 | g.38496487C= | CA2335051262 | RYR1 | c.6742C= (p.Arg2248=) c.6739C= (p.Arg2247=) c.194C= n.6825C= | |
19 | g.38496487C>G | CA405666324 | RYR1 | c.6742C>G (p.Arg2248Gly) c.6739C>G (p.Arg2247Gly) c.194C>G n.6825C>G | |
19 | g.38496487C>T | CA068623 | RYR1 | c.6742C>T (p.Arg2248Cys) c.6739C>T (p.Arg2247Cys) c.194C>T n.6825C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38496488G>A | CA068627 | RYR1 | c.6743G>A (p.Arg2248His) c.6740G>A (p.Arg2247His) c.195G>A n.6826G>A | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.38496488G>C | CA405666325 | RYR1 | c.6743G>C (p.Arg2248Pro) c.6740G>C (p.Arg2247Pro) c.195G>C n.6826G>C | |
19 | g.38496488G= | CA2335051263 | RYR1 | c.6743G= (p.Arg2248=) c.6740G= (p.Arg2247=) c.195G= n.6826G= | |
19 | g.38496488G>T | CA405666326 | RYR1 | c.6743G>T (p.Arg2248Leu) c.6740G>T (p.Arg2247Leu) c.195G>T n.6826G>T | |
19 | g.38496489C>A | CA507353682 | RYR1 | c.6744C>A (p.Arg2248=) c.6741C>A (p.Arg2247=) c.196C>A n.6827C>A | |
19 | g.38496489C= | CA2335051264 | RYR1 | c.6744C= (p.Arg2248=) c.6741C= (p.Arg2247=) c.196C= n.6827C= | |
19 | g.38496489C>G | CA507353683 | RYR1 | c.6744C>G (p.Arg2248=) c.6741C>G (p.Arg2247=) c.196C>G n.6827C>G | |
19 | g.38496489C>T | CA068631 | RYR1 | c.6744C>T (p.Arg2248=) c.6741C>T (p.Arg2247=) c.196C>T n.6827C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38496490T>A | CA405666327 | RYR1 | c.6745T>A (p.Ser2249Thr) c.6742T>A (p.Ser2248Thr) c.197T>A n.6828T>A | |
19 | g.38496490T>C | CA405666328 | RYR1 | c.6745T>C (p.Ser2249Pro) c.6742T>C (p.Ser2248Pro) c.197T>C n.6828T>C | |
19 | g.38496490T>G | CA405666329 | RYR1 | c.6745T>G (p.Ser2249Ala) c.6742T>G (p.Ser2248Ala) c.197T>G n.6828T>G | |
19 | g.38496491C>A | CA405666330 | RYR1 | c.6746C>A (p.Ser2249Tyr) c.6743C>A (p.Ser2248Tyr) c.198C>A n.6829C>A | |
19 | g.38496491C>G | CA405666331 | RYR1 | c.6746C>G (p.Ser2249Cys) c.6743C>G (p.Ser2248Cys) c.198C>G n.6829C>G | |
19 | g.38496491C>T | CA405666332 | RYR1 | c.6746C>T (p.Ser2249Phe) c.6743C>T (p.Ser2248Phe) c.198C>T n.6829C>T | |
19 | g.38496492C>A | CA507353685 | RYR1 | c.6747C>A (p.Ser2249=) c.6744C>A (p.Ser2248=) c.199C>A n.6830C>A | |
19 | g.38496492C= | CA2335051265 | RYR1 | c.6747C= (p.Ser2249=) c.6744C= (p.Ser2248=) c.199C= n.6830C= | |
19 | g.38496492C>G | CA507353686 | RYR1 | c.6747C>G (p.Ser2249=) c.6744C>G (p.Ser2248=) c.199C>G n.6830C>G | |
19 | g.38496492C>T | CA068636 | RYR1 | c.6747C>T (p.Ser2249=) c.6744C>T (p.Ser2248=) c.199C>T n.6830C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38496493A= | CA2335051266 | RYR1 | c.6748A= (p.Met2250=) c.6745A= (p.Met2249=) c.200A= n.6831A= | |
19 | g.38496493A>C | CA405666333 | RYR1 | c.6748A>C (p.Met2250Leu) c.6745A>C (p.Met2249Leu) c.200A>C n.6831A>C | |
19 | g.38496493A>G | CA405666334 | RYR1 | c.6748A>G (p.Met2250Val) c.6745A>G (p.Met2249Val) c.200A>G n.6831A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38496493A>T | CA405666335 | RYR1 | c.6748A>T (p.Met2250Leu) c.6745A>T (p.Met2249Leu) c.200A>T n.6831A>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38496494T>A | CA405666338 | RYR1 | c.6749T>A (p.Met2250Lys) c.6746T>A (p.Met2249Lys) c.201T>A n.6832T>A | |
19 | g.38496494T>C | CA405666336 | RYR1 | c.6749T>C (p.Met2250Thr) c.6746T>C (p.Met2249Thr) c.201T>C n.6832T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38496494T>G | CA405666337 | RYR1 | c.6749T>G (p.Met2250Arg) c.6746T>G (p.Met2249Arg) c.201T>G n.6832T>G | |
19 | g.38496494T= | CA2335051267 | RYR1 | c.6749T= (p.Met2250=) c.6746T= (p.Met2249=) c.201T= n.6832T= | |
19 | g.38496495G>A | CA405666339 | RYR1 | c.6750G>A (p.Met2250Ile) c.6747G>A (p.Met2249Ile) c.202G>A n.6833G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38496495G>C | CA405666340 | RYR1 | c.6750G>C (p.Met2250Ile) c.6747G>C (p.Met2249Ile) c.202G>C n.6833G>C | |
19 | g.38496495G= | CA2335051268 | RYR1 | c.6750G= (p.Met2250=) c.6747G= (p.Met2249=) c.202G= n.6833G= | |
19 | g.38496495G>T | CA405666341 | RYR1 | c.6750G>T (p.Met2250Ile) c.6747G>T (p.Met2249Ile) c.202G>T n.6833G>T | |
19 | g.38496496T>A | CA405666342 | RYR1 | c.6751T>A (p.Phe2251Ile) c.6748T>A (p.Phe2250Ile) c.203T>A n.6834T>A | |
19 | g.38496496T>C | CA405666343 | RYR1 | c.6751T>C (p.Phe2251Leu) c.6748T>C (p.Phe2250Leu) c.203T>C n.6834T>C | |
19 | g.38496496T>G | CA405666344 | RYR1 | c.6751T>G (p.Phe2251Val) c.6748T>G (p.Phe2250Val) c.203T>G n.6834T>G | |
19 | g.38496497T>A | CA405666345 | RYR1 | c.6752T>A (p.Phe2251Tyr) c.6749T>A (p.Phe2250Tyr) c.204T>A n.6835T>A | |
19 | g.38496497T>C | CA405666346 | RYR1 | c.6752T>C (p.Phe2251Ser) c.6749T>C (p.Phe2250Ser) c.204T>C n.6835T>C | ClinVar dbSNP |
19 | g.38496497T>G | CA405666347 | RYR1 | c.6752T>G (p.Phe2251Cys) c.6749T>G (p.Phe2250Cys) c.204T>G n.6835T>G | |
19 | g.38496497T= | CA2335051269 | RYR1 | c.6752T= (p.Phe2251=) c.6749T= (p.Phe2250=) c.204T= n.6835T= | |
19 | g.38496498T>A | CA405666348 | RYR1 | c.6753T>A (p.Phe2251Leu) c.6750T>A (p.Phe2250Leu) c.205T>A n.6836T>A | |
19 | g.38496498T>C | CA068640 | RYR1 | c.6753T>C (p.Phe2251=) c.6750T>C (p.Phe2250=) c.205T>C n.6836T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496498T>G | CA405666349 | RYR1 | c.6753T>G (p.Phe2251Leu) c.6750T>G (p.Phe2250Leu) c.205T>G n.6836T>G | |
19 | g.38496498T= | CA2335051270 | RYR1 | c.6753T= (p.Phe2251=) c.6750T= (p.Phe2250=) c.205T= n.6836T= | |
19 | g.38496499G>A | CA405666352 | RYR1 | c.6754G>A (p.Asp2252Asn) c.6751G>A (p.Asp2251Asn) c.206G>A n.6837G>A | |
19 | g.38496499G>C | CA405666351 | RYR1 | c.6754G>C (p.Asp2252His) c.6751G>C (p.Asp2251His) c.206G>C n.6837G>C | |
19 | g.38496499G>T | CA405666350 | RYR1 | c.6754G>T (p.Asp2252Tyr) c.6751G>T (p.Asp2251Tyr) c.206G>T n.6837G>T | gnomAD v4 |
19 | g.38496500A>C | CA405666355 | RYR1 | c.6755A>C (p.Asp2252Ala) c.6752A>C (p.Asp2251Ala) c.207A>C n.6838A>C | |
19 | g.38496500A>G | CA405666353 | RYR1 | c.6755A>G (p.Asp2252Gly) c.6752A>G (p.Asp2251Gly) c.207A>G n.6838A>G | |
19 | g.38496500A>T | CA405666354 | RYR1 | c.6755A>T (p.Asp2252Val) c.6752A>T (p.Asp2251Val) c.207A>T n.6838A>T | |
19 | g.38496501C>A | CA068644 | RYR1 | c.6756C>A (p.Asp2252Glu) c.6753C>A (p.Asp2251Glu) c.208C>A n.6839C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38496501C= | CA2335051271 | RYR1 | c.6756C= (p.Asp2252=) c.6753C= (p.Asp2251=) c.208C= n.6839C= | |
19 | g.38496501C>G | CA405666356 | RYR1 | c.6756C>G (p.Asp2252Glu) c.6753C>G (p.Asp2251Glu) c.208C>G n.6839C>G | |
19 | g.38496501C>T | CA507353691 | RYR1 | c.6756C>T (p.Asp2252=) c.6753C>T (p.Asp2251=) c.208C>T n.6839C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496502C>A | CA405666357 | RYR1 | c.6757C>A (p.His2253Asn) c.6754C>A (p.His2252Asn) c.209C>A n.6840C>A | |
19 | g.38496502C= | CA2335051272 | RYR1 | c.6757C= (p.His2253=) c.6754C= (p.His2252=) c.209C= n.6840C= | |
19 | g.38496502C>G | CA405666358 | RYR1 | c.6757C>G (p.His2253Asp) c.6754C>G (p.His2252Asp) c.209C>G n.6840C>G | |
19 | g.38496502C>T | CA308104435 | RYR1 | c.6757C>T (p.His2253Tyr) c.6754C>T (p.His2252Tyr) c.209C>T n.6840C>T | ClinVar dbSNP |
19 | g.38496503A>C | CA405666361 | RYR1 | c.6758A>C (p.His2253Pro) c.6755A>C (p.His2252Pro) c.210A>C n.6841A>C | |
19 | g.38496503A>G | CA405666359 | RYR1 | c.6758A>G (p.His2253Arg) c.6755A>G (p.His2252Arg) c.210A>G n.6841A>G | |
19 | g.38496503A>T | CA405666360 | RYR1 | c.6758A>T (p.His2253Leu) c.6755A>T (p.His2252Leu) c.210A>T n.6841A>T | |
19 | g.38496504C>A | CA082186 | RYR1 | c.6759C>A (p.His2253Gln) c.6756C>A (p.His2252Gln) c.211C>A n.6842C>A | |
19 | g.38496504C= | CA2335051273 | RYR1 | c.6759C= (p.His2253=) c.6756C= (p.His2252=) c.211C= n.6842C= | |
19 | g.38496504C>G | CA405666362 | RYR1 | c.6759C>G (p.His2253Gln) c.6756C>G (p.His2252Gln) c.211C>G n.6842C>G | |
19 | g.38496504C>T | CA068648 | RYR1 | c.6759C>T (p.His2253=) c.6756C>T (p.His2252=) c.211C>T n.6842C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38496505C>A | CA405666363 | RYR1 | c.6760C>A (p.Leu2254Met) c.6757C>A (p.Leu2253Met) c.212C>A n.6843C>A | |
19 | g.38496505C= | CA2335051274 | RYR1 | c.6760C= (p.Leu2254=) c.6757C= (p.Leu2253=) c.212C= n.6843C= | |
19 | g.38496505C>G | CA405666364 | RYR1 | c.6760C>G (p.Leu2254Val) c.6757C>G (p.Leu2253Val) c.212C>G n.6843C>G | gnomAD v4 |
19 | g.38496505C>T | CA507353693 | RYR1 | c.6760C>T (p.Leu2254=) c.6757C>T (p.Leu2253=) c.212C>T n.6843C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38496506T>A | CA405666365 | RYR1 | c.6761T>A (p.Leu2254Gln) c.6758T>A (p.Leu2253Gln) c.213T>A n.6844T>A | |
19 | g.38496506T>C | CA308104454 | RYR1 | c.6761T>C (p.Leu2254Pro) c.6758T>C (p.Leu2253Pro) c.213T>C n.6844T>C | ClinVar dbSNP gnomAD v4 |
19 | g.38496506T>G | CA405666366 | RYR1 | c.6761T>G (p.Leu2254Arg) c.6758T>G (p.Leu2253Arg) c.213T>G n.6844T>G | gnomAD v4 |
19 | g.38496506T= | CA2335051275 | RYR1 | c.6761T= (p.Leu2254=) c.6758T= (p.Leu2253=) c.213T= n.6844T= | |
19 | g.38496507G>A | CA308104481 | RYR1 | c.6762G>A (p.Leu2254=) c.6759G>A (p.Leu2253=) c.214G>A n.6845G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38496507G>C | CA507353695 | RYR1 | c.6762G>C (p.Leu2254=) c.6759G>C (p.Leu2253=) c.214G>C n.6845G>C | |
19 | g.38496507G= | CA2335051276 | RYR1 | c.6762G= (p.Leu2254=) c.6759G= (p.Leu2253=) c.214G= n.6845G= | |
19 | g.38496507G>T | CA507353696 | RYR1 | c.6762G>T (p.Leu2254=) c.6759G>T (p.Leu2253=) c.214G>T n.6845G>T | |
19 | g.38496508A>C | CA405666367 | RYR1 | c.6763A>C (p.Ser2255Arg) c.6760A>C (p.Ser2254Arg) c.215A>C n.6846A>C | |
19 | g.38496508A>G | CA405666368 | RYR1 | c.6763A>G (p.Ser2255Gly) c.6760A>G (p.Ser2254Gly) c.215A>G n.6846A>G | |
19 | g.38496508A>T | CA405666369 | RYR1 | c.6763A>T (p.Ser2255Cys) c.6760A>T (p.Ser2254Cys) c.215A>T n.6846A>T | |
19 | g.38496509G>A | CA405666370 | RYR1 | c.6764G>A (p.Ser2255Asn) c.6761G>A (p.Ser2254Asn) c.216G>A n.6847G>A | gnomAD v4 |
19 | g.38496509G>C | CA405666371 | RYR1 | c.6764G>C (p.Ser2255Thr) c.6761G>C (p.Ser2254Thr) c.216G>C n.6847G>C | |
19 | g.38496509G>T | CA405666372 | RYR1 | c.6764G>T (p.Ser2255Ile) c.6761G>T (p.Ser2254Ile) c.216G>T n.6847G>T | |
19 | g.38496510C>A | CA405666373 | RYR1 | c.6765C>A (p.Ser2255Arg) c.6762C>A (p.Ser2254Arg) c.217C>A n.6848C>A | |
19 | g.38496510C>G | CA405666374 | RYR1 | c.6765C>G (p.Ser2255Arg) c.6762C>G (p.Ser2254Arg) c.217C>G n.6848C>G | |
19 | g.38496510C>T | CA507353702 | RYR1 | c.6765C>T (p.Ser2255=) c.6762C>T (p.Ser2254=) c.217C>T n.6848C>T | ClinVar |
19 | g.38496511T>A | CA405666375 | RYR1 | c.6766T>A (p.Tyr2256Asn) c.6763T>A (p.Tyr2255Asn) c.218T>A n.6849T>A | |
19 | g.38496511T>C | CA405666376 | RYR1 | c.6766T>C (p.Tyr2256His) c.6763T>C (p.Tyr2255His) c.218T>C n.6849T>C | dbSNP |
19 | g.38496511T>G | CA405666377 | RYR1 | c.6766T>G (p.Tyr2256Asp) c.6763T>G (p.Tyr2255Asp) c.218T>G n.6849T>G | |
19 | g.38496511T= | CA2335051277 | RYR1 | c.6766T= (p.Tyr2256=) c.6763T= (p.Tyr2255=) c.218T= n.6849T= | |
19 | g.38496512A>C | CA405666379 | RYR1 | c.6767A>C (p.Tyr2256Ser) c.6764A>C (p.Tyr2255Ser) c.219A>C n.6850A>C | |
19 | g.38496512A>G | CA405666380 | RYR1 | c.6767A>G (p.Tyr2256Cys) c.6764A>G (p.Tyr2255Cys) c.219A>G n.6850A>G | |
19 | g.38496512A>T | CA405666378 | RYR1 | c.6767A>T (p.Tyr2256Phe) c.6764A>T (p.Tyr2255Phe) c.219A>T n.6850A>T | |
19 | g.38496513C>A | CA405666381 | RYR1 | c.6768C>A (p.Tyr2256Ter) c.6765C>A (p.Tyr2255Ter) c.220C>A n.6851C>A | gnomAD v4 |
19 | g.38496513C>G | CA405666382 | RYR1 | c.6768C>G (p.Tyr2256Ter) c.6765C>G (p.Tyr2255Ter) c.220C>G n.6851C>G | |
19 | g.38496513C>T | CA507353707 | RYR1 | c.6768C>T (p.Tyr2256=) c.6765C>T (p.Tyr2255=) c.220C>T n.6851C>T | |
19 | g.38496514C>A | CA405666383 | RYR1 | c.6769C>A (p.Leu2257Met) c.6766C>A (p.Leu2256Met) c.221C>A n.6852C>A | |
19 | g.38496514C>G | CA405666384 | RYR1 | c.6769C>G (p.Leu2257Val) c.6766C>G (p.Leu2256Val) c.221C>G n.6852C>G | |
19 | g.38496514C>T | CA507353708 | RYR1 | c.6769C>T (p.Leu2257=) c.6766C>T (p.Leu2256=) c.221C>T n.6852C>T | |
19 | g.38496515T>A | CA405666385 | RYR1 | c.6770T>A (p.Leu2257Gln) c.6767T>A (p.Leu2256Gln) c.222T>A n.6853T>A | |
19 | g.38496515T>C | CA405666386 | RYR1 | c.6770T>C (p.Leu2257Pro) c.6767T>C (p.Leu2256Pro) c.222T>C n.6853T>C | gnomAD v4 |
19 | g.38496515T>G | CA405666387 | RYR1 | c.6770T>G (p.Leu2257Arg) c.6767T>G (p.Leu2256Arg) c.222T>G n.6853T>G | |
19 | g.38496516G>A | CA507353712 | RYR1 | c.6771G>A (p.Leu2257=) c.6768G>A (p.Leu2256=) c.223G>A n.6854G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38496516G>C | CA507353713 | RYR1 | c.6771G>C (p.Leu2257=) c.6768G>C (p.Leu2256=) c.223G>C n.6854G>C | ClinVar |
19 | g.38496516G= | CA2335051278 | RYR1 | c.6771G= (p.Leu2257=) c.6768G= (p.Leu2256=) c.223G= n.6854G= | |
19 | g.38496516G>T | CA507353714 | RYR1 | c.6771G>T (p.Leu2257=) c.6768G>T (p.Leu2256=) c.223G>T n.6854G>T | |
19 | g.38496517C>A | CA405666388 | RYR1 | c.6772C>A (p.Leu2258Met) c.6769C>A (p.Leu2257Met) c.224C>A n.6855C>A | |
19 | g.38496517C= | CA2335051279 | RYR1 | c.6772C= (p.Leu2258=) c.6769C= (p.Leu2257=) c.224C= n.6855C= | |
19 | g.38496517C>G | CA405666389 | RYR1 | c.6772C>G (p.Leu2258Val) c.6769C>G (p.Leu2257Val) c.224C>G n.6855C>G | |
19 | g.38496517C>T | CA507353717 | RYR1 | c.6772C>T (p.Leu2258=) c.6769C>T (p.Leu2257=) c.224C>T n.6855C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496518T>A | CA405666390 | RYR1 | c.6773T>A (p.Leu2258Gln) c.6770T>A (p.Leu2257Gln) c.225T>A n.6856T>A | |
19 | g.38496518T>C | CA068654 | RYR1 | c.6773T>C (p.Leu2258Pro) c.6770T>C (p.Leu2257Pro) c.225T>C n.6856T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496518T>G | CA405666391 | RYR1 | c.6773T>G (p.Leu2258Arg) c.6770T>G (p.Leu2257Arg) c.225T>G n.6856T>G | |
19 | g.38496518T= | CA2335051280 | RYR1 | c.6773T= (p.Leu2258=) c.6770T= (p.Leu2257=) c.225T= n.6856T= | |
19 | g.38496519G>A | CA068659 | RYR1 | c.6774G>A (p.Leu2258=) c.6771G>A (p.Leu2257=) c.226G>A n.6857G>A | ClinVar dbSNP ExAC gnomAD v2 COSMIC |
19 | g.38496519G>C | CA507353719 | RYR1 | c.6774G>C (p.Leu2258=) c.6771G>C (p.Leu2257=) c.226G>C n.6857G>C | |
19 | g.38496519G= | CA2335051281 | RYR1 | c.6774G= (p.Leu2258=) c.6771G= (p.Leu2257=) c.226G= n.6857G= | |
19 | g.38496519G>T | CA507353720 | RYR1 | c.6774G>T (p.Leu2258=) c.6771G>T (p.Leu2257=) c.226G>T n.6857G>T | |
19 | g.38496520G>A | CA068661 | RYR1 | c.6775G>A (p.Glu2259Lys) c.6772G>A (p.Glu2258Lys) c.227G>A n.6858G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38496520G>C | CA405666392 | RYR1 | c.6775G>C (p.Glu2259Gln) c.6772G>C (p.Glu2258Gln) c.227G>C n.6858G>C | |
19 | g.38496520G= | CA2335051282 | RYR1 | c.6775G= (p.Glu2259=) c.6772G= (p.Glu2258=) c.227G= n.6858G= | |
19 | g.38496520G>T | CA405666393 | RYR1 | c.6775G>T (p.Glu2259Ter) c.6772G>T (p.Glu2258Ter) c.227G>T n.6858G>T | |
19 | g.38496521A>C | CA405666394 | RYR1 | c.6776A>C (p.Glu2259Ala) c.6773A>C (p.Glu2258Ala) c.228A>C n.6859A>C | gnomAD v4 |
19 | g.38496521A>G | CA405666396 | RYR1 | c.6776A>G (p.Glu2259Gly) c.6773A>G (p.Glu2258Gly) c.228A>G n.6859A>G | |
19 | g.38496521A>T | CA405666395 | RYR1 | c.6776A>T (p.Glu2259Val) c.6773A>T (p.Glu2258Val) c.228A>T n.6859A>T | |
19 | g.38496522G>A | CA082189 | RYR1 | c.6777G>A (p.Glu2259=) c.6774G>A (p.Glu2258=) c.229G>A n.6860G>A | gnomAD v4 |
19 | g.38496522G>C | CA405666397 | RYR1 | c.6777G>C (p.Glu2259Asp) c.6774G>C (p.Glu2258Asp) c.229G>C n.6860G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38496522G= | CA2335051283 | RYR1 | c.6777G= (p.Glu2259=) c.6774G= (p.Glu2258=) c.229G= n.6860G= | |
19 | g.38496522G>T | CA405666398 | RYR1 | c.6777G>T (p.Glu2259Asp) c.6774G>T (p.Glu2258Asp) c.229G>T n.6860G>T | |
19 | g.38496523A>C | CA405666399 | RYR1 | c.6778A>C (p.Asn2260His) c.6775A>C (p.Asn2259His) c.230A>C n.6861A>C | |
19 | g.38496523A>G | CA405666400 | RYR1 | c.6778A>G (p.Asn2260Asp) c.6775A>G (p.Asn2259Asp) c.230A>G n.6861A>G | |
19 | g.38496523A>T | CA405666401 | RYR1 | c.6778A>T (p.Asn2260Tyr) c.6775A>T (p.Asn2259Tyr) c.230A>T n.6861A>T | |
19 | g.38496524A>C | CA405666402 | RYR1 | c.6779A>C (p.Asn2260Thr) c.6776A>C (p.Asn2259Thr) c.231A>C n.6862A>C | |
19 | g.38496524A>G | CA405666403 | RYR1 | c.6779A>G (p.Asn2260Ser) c.6776A>G (p.Asn2259Ser) c.231A>G n.6862A>G | |
19 | g.38496524A>T | CA405666404 | RYR1 | c.6779A>T (p.Asn2260Ile) c.6776A>T (p.Asn2259Ile) c.231A>T n.6862A>T | |
19 | g.38496525C>A | CA405666405 | RYR1 | c.6780C>A (p.Asn2260Lys) c.6777C>A (p.Asn2259Lys) c.232C>A n.6863C>A | |
19 | g.38496525C= | CA2335051284 | RYR1 | c.6780C= (p.Asn2260=) c.6777C= (p.Asn2259=) c.232C= n.6863C= | |
19 | g.38496525C>G | CA405666406 | RYR1 | c.6780C>G (p.Asn2260Lys) c.6777C>G (p.Asn2259Lys) c.232C>G n.6863C>G | |
19 | g.38496525C>T | CA068669 | RYR1 | c.6780C>T (p.Asn2260=) c.6777C>T (p.Asn2259=) c.232C>T n.6863C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496526A= | CA2335051285 | RYR1 | c.6781A= (p.Ser2261=) c.6778A= (p.Ser2260=) c.233A= n.6864A= | |
19 | g.38496526A>C | CA405666409 | RYR1 | c.6781A>C (p.Ser2261Arg) c.6778A>C (p.Ser2260Arg) c.233A>C n.6864A>C | |
19 | g.38496526A>G | CA405666408 | RYR1 | c.6781A>G (p.Ser2261Gly) c.6778A>G (p.Ser2260Gly) c.233A>G n.6864A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496526A>T | CA405666407 | RYR1 | c.6781A>T (p.Ser2261Cys) c.6778A>T (p.Ser2260Cys) c.233A>T n.6864A>T | |
19 | g.38496527G>A | CA405666410 | RYR1 | c.6782G>A (p.Ser2261Asn) c.6779G>A (p.Ser2260Asn) c.234G>A n.6865G>A | |
19 | g.38496527G>C | CA405666411 | RYR1 | c.6782G>C (p.Ser2261Thr) c.6779G>C (p.Ser2260Thr) c.234G>C n.6865G>C | |
19 | g.38496527G>T | CA405666412 | RYR1 | c.6782G>T (p.Ser2261Ile) c.6779G>T (p.Ser2260Ile) c.234G>T n.6865G>T | |
19 | g.38496528T>A | CA405666413 | RYR1 | c.6783T>A (p.Ser2261Arg) c.6780T>A (p.Ser2260Arg) c.235T>A n.6866T>A | |
19 | g.38496528T>C | CA507353730 | RYR1 | c.6783T>C (p.Ser2261=) c.6780T>C (p.Ser2260=) c.235T>C n.6866T>C | |
19 | g.38496528T>G | CA405666414 | RYR1 | c.6783T>G (p.Ser2261Arg) c.6780T>G (p.Ser2260Arg) c.235T>G n.6866T>G | |
19 | g.38496529G>A | CA405666417 | RYR1 | c.6784G>A (p.Gly2262Ser) c.6781G>A (p.Gly2261Ser) c.236G>A n.6867G>A | |
19 | g.38496529G>C | CA405666416 | RYR1 | c.6784G>C (p.Gly2262Arg) c.6781G>C (p.Gly2261Arg) c.236G>C n.6867G>C | |
19 | g.38496529G>T | CA405666415 | RYR1 | c.6784G>T (p.Gly2262Cys) c.6781G>T (p.Gly2261Cys) c.236G>T n.6867G>T | |
19 | g.38496530G>A | CA405666418 | RYR1 | c.6785G>A (p.Gly2262Asp) c.6782G>A (p.Gly2261Asp) c.237G>A n.6868G>A | gnomAD v4 |
19 | g.38496530G>C | CA405666419 | RYR1 | c.6785G>C (p.Gly2262Ala) c.6782G>C (p.Gly2261Ala) c.237G>C n.6868G>C | |
19 | g.38496530G>T | CA405666420 | RYR1 | c.6785G>T (p.Gly2262Val) c.6782G>T (p.Gly2261Val) c.237G>T n.6868G>T | |
19 | g.38496531C>A | CA507353738 | RYR1 | c.6786C>A (p.Gly2262=) c.6783C>A (p.Gly2261=) c.238C>A n.6869C>A | gnomAD v4 |
19 | g.38496531C>G | CA507353739 | RYR1 | c.6786C>G (p.Gly2262=) c.6783C>G (p.Gly2261=) c.238C>G n.6869C>G | |
19 | g.38496531C>T | CA507353740 | RYR1 | c.6786C>T (p.Gly2262=) c.6783C>T (p.Gly2261=) c.238C>T n.6869C>T | |
19 | g.38496532A>C | CA405666421 | RYR1 | c.6787A>C (p.Ile2263Leu) c.6784A>C (p.Ile2262Leu) c.239A>C n.6870A>C | |
19 | g.38496532A>G | CA405666422 | RYR1 | c.6787A>G (p.Ile2263Val) c.6784A>G (p.Ile2262Val) c.239A>G n.6870A>G | |
19 | g.38496532A>T | CA405666423 | RYR1 | c.6787A>T (p.Ile2263Phe) c.6784A>T (p.Ile2262Phe) c.239A>T n.6870A>T | |
19 | g.38496533T>A | CA405666424 | RYR1 | c.6788T>A (p.Ile2263Asn) c.6785T>A (p.Ile2262Asn) c.240T>A n.6871T>A | |
19 | g.38496533T>C | CA405666426 | RYR1 | c.6788T>C (p.Ile2263Thr) c.6785T>C (p.Ile2262Thr) c.240T>C n.6871T>C | gnomAD v4 |
19 | g.38496533T>G | CA405666425 | RYR1 | c.6788T>G (p.Ile2263Ser) c.6785T>G (p.Ile2262Ser) c.240T>G n.6871T>G | |
19 | g.38496534C>A | CA507353746 | RYR1 | c.6789C>A (p.Ile2263=) c.6786C>A (p.Ile2262=) c.241C>A n.6872C>A | ClinVar dbSNP |
19 | g.38496534C= | CA2335051286 | RYR1 | c.6789C= (p.Ile2263=) c.6786C= (p.Ile2262=) c.241C= n.6872C= | |
19 | g.38496534C>G | CA405666427 | RYR1 | c.6789C>G (p.Ile2263Met) c.6786C>G (p.Ile2262Met) c.241C>G n.6872C>G | |
19 | g.38496534C>T | CA068673 | RYR1 | c.6789C>T (p.Ile2263=) c.6786C>T (p.Ile2262=) c.241C>T n.6872C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496535G>A | CA405666428 | RYR1 | c.6790G>A (p.Gly2264Ser) c.6787G>A (p.Gly2263Ser) c.242G>A n.6873G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.38496535G>C | CA405666429 | RYR1 | c.6790G>C (p.Gly2264Arg) c.6787G>C (p.Gly2263Arg) c.242G>C n.6873G>C | |
19 | g.38496535G= | CA2335051287 | RYR1 | c.6790G= (p.Gly2264=) c.6787G= (p.Gly2263=) c.242G= n.6873G= | |
19 | g.38496535G>T | CA405666430 | RYR1 | c.6790G>T (p.Gly2264Cys) c.6787G>T (p.Gly2263Cys) c.242G>T n.6873G>T | |
19 | g.38496536G>A | CA405666431 | RYR1 | c.6791G>A (p.Gly2264Asp) c.6788G>A (p.Gly2263Asp) c.243G>A n.6874G>A | COSMIC |
19 | g.38496536G>C | CA405666432 | RYR1 | c.6791G>C (p.Gly2264Ala) c.6788G>C (p.Gly2263Ala) c.243G>C n.6874G>C | |
19 | g.38496536G>T | CA405666433 | RYR1 | c.6791G>T (p.Gly2264Val) c.6788G>T (p.Gly2263Val) c.243G>T n.6874G>T | |
19 | g.38496537C>A | CA507353749 | RYR1 | c.6792C>A (p.Gly2264=) c.6789C>A (p.Gly2263=) c.244C>A n.6875C>A | |
19 | g.38496537C= | CA2335051288 | RYR1 | c.6792C= (p.Gly2264=) c.6789C= (p.Gly2263=) c.244C= n.6875C= | |
19 | g.38496537C>G | CA507353750 | RYR1 | c.6792C>G (p.Gly2264=) c.6789C>G (p.Gly2263=) c.244C>G n.6875C>G | |
19 | g.38496537C>T | CA068676 | RYR1 | c.6792C>T (p.Gly2264=) c.6789C>T (p.Gly2263=) c.244C>T n.6875C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496538C>A | CA405666434 | RYR1 | c.6793C>A (p.Leu2265Met) c.6790C>A (p.Leu2264Met) c.245C>A n.6876C>A | |
19 | g.38496538C>G | CA405666435 | RYR1 | c.6793C>G (p.Leu2265Val) c.6790C>G (p.Leu2264Val) c.245C>G n.6876C>G | |
19 | g.38496538C>T | CA507353751 | RYR1 | c.6793C>T (p.Leu2265=) c.6790C>T (p.Leu2264=) c.245C>T n.6876C>T | |
19 | g.38496539T>A | CA405666436 | RYR1 | c.6794T>A (p.Leu2265Gln) c.6791T>A (p.Leu2264Gln) c.246T>A n.6877T>A | |
19 | g.38496539T>C | CA405666438 | RYR1 | c.6794T>C (p.Leu2265Pro) c.6791T>C (p.Leu2264Pro) c.246T>C n.6877T>C | |
19 | g.38496539T>G | CA405666437 | RYR1 | c.6794T>G (p.Leu2265Arg) c.6791T>G (p.Leu2264Arg) c.246T>G n.6877T>G | |
19 | g.38496540G>A | CA507353756 | RYR1 | c.6795G>A (p.Leu2265=) c.6792G>A (p.Leu2264=) c.247G>A n.6878G>A | |
19 | g.38496540G>C | CA507353757 | RYR1 | c.6795G>C (p.Leu2265=) c.6792G>C (p.Leu2264=) c.247G>C n.6878G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38496540G= | CA2335051289 | RYR1 | c.6795G= (p.Leu2265=) c.6792G= (p.Leu2264=) c.247G= n.6878G= | |
19 | g.38496540G>T | CA507353758 | RYR1 | c.6795G>T (p.Leu2265=) c.6792G>T (p.Leu2264=) c.247G>T n.6878G>T | |
19 | g.38496542del | CA2584899323 | RYR1 | c.6796+1del c.6793+1del c.248+1del n.6879+1del | gnomAD v4 |
19 | g.38496541G>A | CA405666439 | RYR1 | c.6796G>A (p.Gly2266Ser) c.6793G>A (p.Gly2265Ser) c.248G>A n.6879G>A | gnomAD v4 |
19 | g.38496541G>C | CA068720 | RYR1 | c.6796G>C (p.Gly2266Arg) c.6793G>C (p.Gly2265Arg) c.248G>C n.6879G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496541G= | CA2335051290 | RYR1 | c.6796G= (p.Gly2266=) c.6793G= (p.Gly2265=) c.248G= n.6879G= | |
19 | g.38496541G>T | CA068724 | RYR1 | c.6796G>T (p.Gly2266Cys) c.6793G>T (p.Gly2265Cys) c.248G>T n.6879G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38496542G>A | CA405666440 | RYR1 | c.6796+1G>A (n.6796+1G>A) c.6793+1G>A (n.6793+1G>A) c.248+1G>A n.6879+1G>A | ClinVar dbSNP |
19 | g.38496542G>C | CA405666441 | RYR1 | c.6796+1G>C (n.6796+1G>C) c.6793+1G>C (n.6793+1G>C) c.248+1G>C n.6879+1G>C | |
19 | g.38496542G>T | CA405666442 | RYR1 | c.6796+1G>T (n.6796+1G>T) c.6793+1G>T (n.6793+1G>T) c.248+1G>T n.6879+1G>T | |
19 | g.38496543T>A | CA405666443 | RYR1 | c.6796+2T>A (n.6796+2T>A) c.6793+2T>A (n.6793+2T>A) c.248+2T>A n.6879+2T>A | gnomAD v4 |
19 | g.38496543T>C | CA405666444 | RYR1 | c.6796+2T>C (n.6796+2T>C) c.6793+2T>C (n.6793+2T>C) c.248+2T>C n.6879+2T>C | |
19 | g.38496543T>G | CA405666445 | RYR1 | c.6796+2T>G (n.6796+2T>G) c.6793+2T>G (n.6793+2T>G) c.248+2T>G n.6879+2T>G | dbSNP |
19 | g.38496543T= | CA2335051291 | RYR1 | c.6796+2T= (n.6796+2T=) c.6793+2T= (n.6793+2T=) c.248+2T= n.6879+2T= | |
19 | g.38496545A= | CA2335051292 | RYR1 | c.6796+4A= (n.6796+4A=) c.6793+4A= (n.6793+4A=) c.248+4A= n.6879+4A= | |
19 | g.38496545A>G | CA068708 | RYR1 | c.6796+4A>G (n.6796+4A>G) c.6793+4A>G (n.6793+4A>G) c.248+4A>G n.6879+4A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38496547A>C | CA2584899334 | RYR1 | c.6796+6A>C (n.6796+6A>C) c.6793+6A>C (n.6793+6A>C) c.248+6A>C n.6879+6A>C | gnomAD v4 |
19 | g.38496548A= | CA2335051293 | RYR1 | c.6796+7A= (n.6796+7A=) c.6793+7A= (n.6793+7A=) c.248+7A= n.6879+7A= | |
19 | g.38496548A>C | CA633066116 | RYR1 | c.6796+7A>C (n.6796+7A>C) c.6793+7A>C (n.6793+7A>C) c.248+7A>C n.6879+7A>C | dbSNP gnomAD v2 |
19 | g.38496548A>G | CA2576770970 | RYR1 | c.6796+7A>G (n.6796+7A>G) c.6793+7A>G (n.6793+7A>G) c.248+7A>G n.6879+7A>G | dbSNP |
19 | g.38496549C>A | CA2584899336 | RYR1 | c.6796+8C>A (n.6796+8C>A) c.6793+8C>A (n.6793+8C>A) c.248+8C>A n.6879+8C>A | gnomAD v4 |
19 | g.38496549C= | CA2335051294 | RYR1 | c.6796+8C= (n.6796+8C=) c.6793+8C= (n.6793+8C=) c.248+8C= n.6879+8C= | |
19 | g.38496549C>G | CA2584899339 | RYR1 | c.6796+8C>G (n.6796+8C>G) c.6793+8C>G (n.6793+8C>G) c.248+8C>G n.6879+8C>G | ClinVar gnomAD v4 |
19 | g.38496549C>T | CA068713 | RYR1 | c.6796+8C>T (n.6796+8C>T) c.6793+8C>T (n.6793+8C>T) c.248+8C>T n.6879+8C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496553del | CA2584899337 | RYR1 | c.6796+12del (n.6796+12del) c.6793+12del (n.6793+12del) c.248+12del n.6879+12del | gnomAD v4 |
19 | g.38496550C= | CA2335051295 | RYR1 | c.6796+9C= (n.6796+9C=) c.6793+9C= (n.6793+9C=) c.248+9C= n.6879+9C= | |
19 | g.38496550C>T | CA068715 | RYR1 | c.6796+9C>T (n.6796+9C>T) c.6793+9C>T (n.6793+9C>T) c.248+9C>T n.6879+9C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496551C>A | CA2584899348 | RYR1 | c.6796+10C>A (n.6796+10C>A) c.6793+10C>A (n.6793+10C>A) c.248+10C>A n.6879+10C>A | gnomAD v4 |
19 | g.38496552C= | CA2335051296 | RYR1 | c.6796+11C= (n.6796+11C=) c.6793+11C= (n.6793+11C=) c.248+11C= n.6879+11C= | |
19 | g.38496552C>T | CA068678 | RYR1 | c.6796+11C>T (n.6796+11C>T) c.6793+11C>T (n.6793+11C>T) c.248+11C>T n.6879+11C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38496553C= | CA2335051297 | RYR1 | c.6796+12C= (n.6796+12C=) c.6793+12C= (n.6793+12C=) c.248+12C= n.6879+12C= | |
19 | g.38496553C>G | CA2584899351 | RYR1 | c.6796+12C>G (n.6796+12C>G) c.6793+12C>G (n.6793+12C>G) c.248+12C>G n.6879+12C>G | gnomAD v4 |
19 | g.38496553C>T | CA068680 | RYR1 | c.6796+12C>T (n.6796+12C>T) c.6793+12C>T (n.6793+12C>T) c.248+12C>T n.6879+12C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496554G>A | CA068684 | RYR1 | c.6796+13G>A (n.6796+13G>A) c.6793+13G>A (n.6793+13G>A) c.248+13G>A n.6879+13G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496554G>C | CA2814345955 | RYR1 | c.6796+13G>C (n.6796+13G>C) c.6793+13G>C (n.6793+13G>C) c.248+13G>C n.6879+13G>C | |
19 | g.38496554G= | CA2335051298 | RYR1 | c.6796+13G= (n.6796+13G=) c.6793+13G= (n.6793+13G=) c.248+13G= n.6879+13G= | |
19 | g.38496555A>G | CA2584899359 | RYR1 | c.6796+14A>G (n.6796+14A>G) c.6793+14A>G (n.6793+14A>G) c.248+14A>G n.6879+14A>G | gnomAD v4 |
19 | g.38496555A>T | CA2576770971 | RYR1 | c.6796+14A>T (n.6796+14A>T) c.6793+14A>T (n.6793+14A>T) c.248+14A>T n.6879+14A>T | gnomAD v4 |
19 | g.38496556G>A | CA633066117 | RYR1 | c.6796+15G>A (n.6796+15G>A) c.6793+15G>A (n.6793+15G>A) c.248+15G>A n.6879+15G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38496556G= | CA2335051299 | RYR1 | c.6796+15G= (n.6796+15G=) c.6793+15G= (n.6793+15G=) c.248+15G= n.6879+15G= | |
19 | g.38496556G>T | CA068686 | RYR1 | c.6796+15G>T (n.6796+15G>T) c.6793+15G>T (n.6793+15G>T) c.248+15G>T n.6879+15G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496557C>A | CA2697556562 | RYR1 | c.6796+16C>A (n.6796+16C>A) c.6793+16C>A (n.6793+16C>A) c.248+16C>A n.6879+16C>A | ClinVar |
19 | g.38496557C>T | CA2576770972 | RYR1 | c.6796+16C>T (n.6796+16C>T) c.6793+16C>T (n.6793+16C>T) c.248+16C>T n.6879+16C>T | gnomAD v4 |
19 | g.38496558C>A | CA2739276705 | RYR1 | c.6796+17C>A (n.6796+17C>A) c.6793+17C>A (n.6793+17C>A) c.248+17C>A n.6879+17C>A | ClinVar |
19 | g.38496558C>T | CA2584899363 | RYR1 | c.6796+17C>T (n.6796+17C>T) c.6793+17C>T (n.6793+17C>T) c.248+17C>T n.6879+17C>T | gnomAD v4 |
19 | g.38496559C>A | CA2576770973 | RYR1 | c.6796+18C>A (n.6796+18C>A) c.6793+18C>A (n.6793+18C>A) c.248+18C>A n.6879+18C>A | |
19 | g.38496559C>T | CA2580097194 | RYR1 | c.6796+18C>T (n.6796+18C>T) c.6793+18C>T (n.6793+18C>T) c.248+18C>T n.6879+18C>T | ClinVar gnomAD v4 |