Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38485897C>A | CA405654275 | RYR1 | c.5242C>A (p.Pro1748Thr) c.5239C>A (p.Pro1747Thr) n.5325C>A | |
19 | g.38485897C>G | CA405654276 | RYR1 | c.5242C>G (p.Pro1748Ala) c.5239C>G (p.Pro1747Ala) n.5325C>G | |
19 | g.38485897C>T | CA405654278 | RYR1 | c.5242C>T (p.Pro1748Ser) c.5239C>T (p.Pro1747Ser) n.5325C>T | ClinVar COSMIC |
19 | g.38485898C>A | CA405654280 | RYR1 | c.5243C>A (p.Pro1748His) c.5240C>A (p.Pro1747His) n.5326C>A | dbSNP |
19 | g.38485898C= | CA2335046301 | RYR1 | c.5243C= (p.Pro1748=) c.5240C= (p.Pro1747=) n.5326C= | |
19 | g.38485898C>G | CA405654281 | RYR1 | c.5243C>G (p.Pro1748Arg) c.5240C>G (p.Pro1747Arg) n.5326C>G | ClinVar |
19 | g.38485898C>T | CA405654283 | RYR1 | c.5243C>T (p.Pro1748Leu) c.5240C>T (p.Pro1747Leu) n.5326C>T | dbSNP |
19 | g.38485899T>A | CA507353289 | RYR1 | c.5244T>A (p.Pro1748=) c.5241T>A (p.Pro1747=) n.5327T>A | |
19 | g.38485899T>C | CA507353290 | RYR1 | c.5244T>C (p.Pro1748=) c.5241T>C (p.Pro1747=) n.5327T>C | |
19 | g.38485899T>G | CA507353291 | RYR1 | c.5244T>G (p.Pro1748=) c.5241T>G (p.Pro1747=) n.5327T>G | gnomAD v4 |
19 | g.38485900C>A | CA405654284 | RYR1 | c.5245C>A (p.Pro1749Thr) c.5242C>A (p.Pro1748Thr) n.5328C>A | |
19 | g.38485900C= | CA2335046302 | RYR1 | c.5245C= (p.Pro1749=) c.5242C= (p.Pro1748=) n.5328C= | |
19 | g.38485900C>G | CA405654285 | RYR1 | c.5245C>G (p.Pro1749Ala) c.5242C>G (p.Pro1748Ala) n.5328C>G | |
19 | g.38485900C>T | CA405654287 | RYR1 | c.5245C>T (p.Pro1749Ser) c.5242C>T (p.Pro1748Ser) n.5328C>T | dbSNP gnomAD v4 |
19 | g.38485901C>A | CA405654288 | RYR1 | c.5246C>A (p.Pro1749His) c.5243C>A (p.Pro1748His) n.5329C>A | |
19 | g.38485901C= | CA2335046303 | RYR1 | c.5246C= (p.Pro1749=) c.5243C= (p.Pro1748=) n.5329C= | |
19 | g.38485901C>G | CA405654290 | RYR1 | c.5246C>G (p.Pro1749Arg) c.5243C>G (p.Pro1748Arg) n.5329C>G | |
19 | g.38485901C>T | CA405654291 | RYR1 | c.5246C>T (p.Pro1749Leu) c.5243C>T (p.Pro1748Leu) n.5329C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485902T>A | CA507353295 | RYR1 | c.5247T>A (p.Pro1749=) c.5244T>A (p.Pro1748=) n.5330T>A | |
19 | g.38485902T>C | CA507353296 | RYR1 | c.5247T>C (p.Pro1749=) c.5244T>C (p.Pro1748=) n.5330T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485902T>G | CA507353297 | RYR1 | c.5247T>G (p.Pro1749=) c.5244T>G (p.Pro1748=) n.5330T>G | |
19 | g.38485902T= | CA2335046304 | RYR1 | c.5247T= (p.Pro1749=) c.5244T= (p.Pro1748=) n.5330T= | |
19 | g.38485903G>A | CA405654296 | RYR1 | c.5248G>A (p.Gly1750Arg) c.5245G>A (p.Gly1749Arg) n.5331G>A | |
19 | g.38485903G>C | CA405654293 | RYR1 | c.5248G>C (p.Gly1750Arg) c.5245G>C (p.Gly1749Arg) n.5331G>C | gnomAD v4 |
19 | g.38485903G>T | CA405654294 | RYR1 | c.5248G>T (p.Gly1750Ter) c.5245G>T (p.Gly1749Ter) n.5331G>T | |
19 | g.38485904G>A | CA405654298 | RYR1 | c.5249G>A (p.Gly1750Glu) c.5246G>A (p.Gly1749Glu) n.5332G>A | |
19 | g.38485904G>C | CA405654299 | RYR1 | c.5249G>C (p.Gly1750Ala) c.5246G>C (p.Gly1749Ala) n.5332G>C | |
19 | g.38485904G>T | CA405654301 | RYR1 | c.5249G>T (p.Gly1750Val) c.5246G>T (p.Gly1749Val) n.5332G>T | |
19 | g.38485905A= | CA2335046305 | RYR1 | c.5250A= (p.Gly1750=) c.5247A= (p.Gly1749=) n.5333A= | |
19 | g.38485905A>C | CA507353302 | RYR1 | c.5250A>C (p.Gly1750=) c.5247A>C (p.Gly1749=) n.5333A>C | |
19 | g.38485905A>G | CA066800 | RYR1 | c.5250A>G (p.Gly1750=) c.5247A>G (p.Gly1749=) n.5333A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485905A>T | CA507353303 | RYR1 | c.5250A>T (p.Gly1750=) c.5247A>T (p.Gly1749=) n.5333A>T | |
19 | g.38485906A= | CA2335046306 | RYR1 | c.5251A= (p.Arg1751=) c.5248A= (p.Arg1750=) n.5334A= | |
19 | g.38485906A>C | CA507353305 | RYR1 | c.5251A>C (p.Arg1751=) c.5248A>C (p.Arg1750=) n.5334A>C | |
19 | g.38485906A>G | CA066804 | RYR1 | c.5251A>G (p.Arg1751Gly) c.5248A>G (p.Arg1750Gly) n.5334A>G | dbSNP ExAC gnomAD v4 |
19 | g.38485906A>T | CA405654303 | RYR1 | c.5251A>T (p.Arg1751Trp) c.5248A>T (p.Arg1750Trp) n.5334A>T | |
19 | g.38485907G>A | CA405654305 | RYR1 | c.5252G>A (p.Arg1751Lys) c.5249G>A (p.Arg1750Lys) n.5335G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485907G>C | CA405654306 | RYR1 | c.5252G>C (p.Arg1751Thr) c.5249G>C (p.Arg1750Thr) n.5335G>C | |
19 | g.38485907G= | CA2335046307 | RYR1 | c.5252G= (p.Arg1751=) c.5249G= (p.Arg1750=) n.5335G= | |
19 | g.38485907G>T | CA405654307 | RYR1 | c.5252G>T (p.Arg1751Met) c.5249G>T (p.Arg1750Met) n.5335G>T | |
19 | g.38485908G>A | CA066808 | RYR1 | c.5253G>A (p.Arg1751=) c.5250G>A (p.Arg1750=) n.5336G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485908G>C | CA405654309 | RYR1 | c.5253G>C (p.Arg1751Ser) c.5250G>C (p.Arg1750Ser) n.5336G>C | |
19 | g.38485908G= | CA2335046308 | RYR1 | c.5253G= (p.Arg1751=) c.5250G= (p.Arg1750=) n.5336G= | |
19 | g.38485908G>T | CA405654311 | RYR1 | c.5253G>T (p.Arg1751Ser) c.5250G>T (p.Arg1750Ser) n.5336G>T | |
19 | g.38485909A= | CA2335046309 | RYR1 | c.5254A= (p.Ser1752=) c.5251A= (p.Ser1751=) n.5337A= | |
19 | g.38485909A>C | CA405654314 | RYR1 | c.5254A>C (p.Ser1752Arg) c.5251A>C (p.Ser1751Arg) n.5337A>C | |
19 | g.38485909A>G | CA066812 | RYR1 | c.5254A>G (p.Ser1752Gly) c.5251A>G (p.Ser1751Gly) n.5337A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485909A>T | CA405654313 | RYR1 | c.5254A>T (p.Ser1752Cys) c.5251A>T (p.Ser1751Cys) n.5337A>T | |
19 | g.38485910G>A | CA066816 | RYR1 | c.5255G>A (p.Ser1752Asn) c.5252G>A (p.Ser1751Asn) n.5338G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485910G>C | CA405654319 | RYR1 | c.5255G>C (p.Ser1752Thr) c.5252G>C (p.Ser1751Thr) n.5338G>C | |
19 | g.38485910G= | CA2335046310 | RYR1 | c.5255G= (p.Ser1752=) c.5252G= (p.Ser1751=) n.5338G= | |
19 | g.38485910G>T | CA405654317 | RYR1 | c.5255G>T (p.Ser1752Ile) c.5252G>T (p.Ser1751Ile) n.5338G>T | gnomAD v4 |
19 | g.38485911C>A | CA405654320 | RYR1 | c.5256C>A (p.Ser1752Arg) c.5253C>A (p.Ser1751Arg) n.5339C>A | ClinVar |
19 | g.38485911C= | CA2335046311 | RYR1 | c.5256C= (p.Ser1752=) c.5253C= (p.Ser1751=) n.5339C= | |
19 | g.38485911C>G | CA405654322 | RYR1 | c.5256C>G (p.Ser1752Arg) c.5253C>G (p.Ser1751Arg) n.5339C>G | |
19 | g.38485911C>T | CA507353313 | RYR1 | c.5256C>T (p.Ser1752=) c.5253C>T (p.Ser1751=) n.5339C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38485912A= | CA2335046312 | RYR1 | c.5257A= (p.Thr1753=) c.5254A= (p.Thr1752=) n.5340A= | |
19 | g.38485912A>C | CA405654324 | RYR1 | c.5257A>C (p.Thr1753Pro) c.5254A>C (p.Thr1752Pro) n.5340A>C | |
19 | g.38485912A>G | CA081744 | RYR1 | c.5257A>G (p.Thr1753Ala) c.5254A>G (p.Thr1752Ala) n.5340A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485912A>T | CA405654326 | RYR1 | c.5257A>T (p.Thr1753Ser) c.5254A>T (p.Thr1752Ser) n.5340A>T | |
19 | g.38485913C>A | CA405654328 | RYR1 | c.5258C>A (p.Thr1753Lys) c.5255C>A (p.Thr1752Lys) n.5341C>A | gnomAD v4 |
19 | g.38485913C= | CA2335046313 | RYR1 | c.5258C= (p.Thr1753=) c.5255C= (p.Thr1752=) n.5341C= | |
19 | g.38485913C>G | CA405654330 | RYR1 | c.5258C>G (p.Thr1753Arg) c.5255C>G (p.Thr1752Arg) n.5341C>G | |
19 | g.38485913C>T | CA308093442 | RYR1 | c.5258C>T (p.Thr1753Ile) c.5255C>T (p.Thr1752Ile) n.5341C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485914A>C | CA507353321 | RYR1 | c.5259A>C (p.Thr1753=) c.5256A>C (p.Thr1752=) n.5342A>C | |
19 | g.38485914A>G | CA507353320 | RYR1 | c.5259A>G (p.Thr1753=) c.5256A>G (p.Thr1752=) n.5342A>G | gnomAD v4 |
19 | g.38485914A>T | CA507353318 | RYR1 | c.5259A>T (p.Thr1753=) c.5256A>T (p.Thr1752=) n.5342A>T | |
19 | g.38485915G>A | CA405654332 | RYR1 | c.5260G>A (p.Glu1754Lys) c.5257G>A (p.Glu1753Lys) n.5343G>A | |
19 | g.38485915G>C | CA405654333 | RYR1 | c.5260G>C (p.Glu1754Gln) c.5257G>C (p.Glu1753Gln) n.5343G>C | |
19 | g.38485915G>T | CA405654334 | RYR1 | c.5260G>T (p.Glu1754Ter) c.5257G>T (p.Glu1753Ter) n.5343G>T | gnomAD v4 |
19 | g.38485916A= | CA2335046314 | RYR1 | c.5261A= (p.Glu1754=) c.5258A= (p.Glu1753=) n.5344A= | |
19 | g.38485916A>C | CA308093443 | RYR1 | c.5261A>C (p.Glu1754Ala) c.5258A>C (p.Glu1753Ala) n.5344A>C | dbSNP |
19 | g.38485916A>G | CA405654335 | RYR1 | c.5261A>G (p.Glu1754Gly) c.5258A>G (p.Glu1753Gly) n.5344A>G | |
19 | g.38485916A>T | CA405654337 | RYR1 | c.5261A>T (p.Glu1754Val) c.5258A>T (p.Glu1753Val) n.5344A>T | |
19 | g.38485917A>C | CA405654339 | RYR1 | c.5262A>C (p.Glu1754Asp) c.5259A>C (p.Glu1753Asp) n.5345A>C | |
19 | g.38485917A>G | CA507353326 | RYR1 | c.5262A>G (p.Glu1754=) c.5259A>G (p.Glu1753=) n.5345A>G | |
19 | g.38485917A>T | CA405654341 | RYR1 | c.5262A>T (p.Glu1754Asp) c.5259A>T (p.Glu1753Asp) n.5345A>T | |
19 | g.38485918_38485925dup | CA882053917 | RYR1 | c.5263_5270dup (p.His1757GlnfsTer18) c.5260_5267dup (p.His1756GlnfsTer18) n.5346_5353dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485918A>C | CA405654342 | RYR1 | c.5263A>C (p.Asn1755His) c.5260A>C (p.Asn1754His) n.5346A>C | |
19 | g.38485918A>G | CA405654344 | RYR1 | c.5263A>G (p.Asn1755Asp) c.5260A>G (p.Asn1754Asp) n.5346A>G | gnomAD v4 |
19 | g.38485918A>T | CA405654346 | RYR1 | c.5263A>T (p.Asn1755Tyr) c.5260A>T (p.Asn1754Tyr) n.5346A>T | |
19 | g.38485919A>C | CA405654347 | RYR1 | c.5264A>C (p.Asn1755Thr) c.5261A>C (p.Asn1754Thr) n.5347A>C | |
19 | g.38485919A>G | CA405654349 | RYR1 | c.5264A>G (p.Asn1755Ser) c.5261A>G (p.Asn1754Ser) n.5347A>G | |
19 | g.38485919A>T | CA405654350 | RYR1 | c.5264A>T (p.Asn1755Ile) c.5261A>T (p.Asn1754Ile) n.5347A>T | |
19 | g.38485920T>A | CA405654352 | RYR1 | c.5265T>A (p.Asn1755Lys) c.5262T>A (p.Asn1754Lys) n.5348T>A | |
19 | g.38485920T>C | CA507353328 | RYR1 | c.5265T>C (p.Asn1755=) c.5262T>C (p.Asn1754=) n.5348T>C | |
19 | g.38485920T>G | CA405654353 | RYR1 | c.5265T>G (p.Asn1755Lys) c.5262T>G (p.Asn1754Lys) n.5348T>G | |
19 | g.38485921G>A | CA405654356 | RYR1 | c.5266G>A (p.Gly1756Ser) c.5263G>A (p.Gly1755Ser) n.5349G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485921G>C | CA405654357 | RYR1 | c.5266G>C (p.Gly1756Arg) c.5263G>C (p.Gly1755Arg) n.5349G>C | |
19 | g.38485921G= | CA2335046315 | RYR1 | c.5266G= (p.Gly1756=) c.5263G= (p.Gly1755=) n.5349G= | |
19 | g.38485921G>T | CA405654355 | RYR1 | c.5266G>T (p.Gly1756Cys) c.5263G>T (p.Gly1755Cys) n.5349G>T | ClinVar |
19 | g.38485922G>A | CA405654358 | RYR1 | c.5267G>A (p.Gly1756Asp) c.5264G>A (p.Gly1755Asp) n.5350G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485922G>C | CA405654360 | RYR1 | c.5267G>C (p.Gly1756Ala) c.5264G>C (p.Gly1755Ala) n.5350G>C | |
19 | g.38485922G= | CA2335046316 | RYR1 | c.5267G= (p.Gly1756=) c.5264G= (p.Gly1755=) n.5350G= | |
19 | g.38485922G>T | CA405654362 | RYR1 | c.5267G>T (p.Gly1756Val) c.5264G>T (p.Gly1755Val) n.5350G>T | gnomAD v4 |
19 | g.38485923T>A | CA507353332 | RYR1 | c.5268T>A (p.Gly1756=) c.5265T>A (p.Gly1755=) n.5351T>A | |
19 | g.38485923T>C | CA507353333 | RYR1 | c.5268T>C (p.Gly1756=) c.5265T>C (p.Gly1755=) n.5351T>C | dbSNP |
19 | g.38485923T>G | CA507353335 | RYR1 | c.5268T>G (p.Gly1756=) c.5265T>G (p.Gly1755=) n.5351T>G | |
19 | g.38485923T= | CA2335046317 | RYR1 | c.5268T= (p.Gly1756=) c.5265T= (p.Gly1755=) n.5351T= | |
19 | g.38485924C>A | CA405654363 | RYR1 | c.5269C>A (p.His1757Asn) c.5266C>A (p.His1756Asn) n.5352C>A | |
19 | g.38485924C>G | CA405654365 | RYR1 | c.5269C>G (p.His1757Asp) c.5266C>G (p.His1756Asp) n.5352C>G | |
19 | g.38485924C>T | CA405654366 | RYR1 | c.5269C>T (p.His1757Tyr) c.5266C>T (p.His1756Tyr) n.5352C>T | |
19 | g.38485925A= | CA2335046318 | RYR1 | c.5270A= (p.His1757=) c.5267A= (p.His1756=) n.5353A= | |
19 | g.38485925A>C | CA405654368 | RYR1 | c.5270A>C (p.His1757Pro) c.5267A>C (p.His1756Pro) n.5353A>C | dbSNP |
19 | g.38485925A>G | CA405654369 | RYR1 | c.5270A>G (p.His1757Arg) c.5267A>G (p.His1756Arg) n.5353A>G | |
19 | g.38485925A>T | CA405654371 | RYR1 | c.5270A>T (p.His1757Leu) c.5267A>T (p.His1756Leu) n.5353A>T | gnomAD v4 |
19 | g.38485926C>A | CA066826 | RYR1 | c.5271C>A (p.His1757Gln) c.5268C>A (p.His1756Gln) n.5354C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485926C= | CA2335046320 | RYR1 | c.5271C= (p.His1757=) c.5268C= (p.His1756=) n.5354C= | |
19 | g.38485926C>G | CA405654373 | RYR1 | c.5271C>G (p.His1757Gln) c.5268C>G (p.His1756Gln) n.5354C>G | |
19 | g.38485926C>T | CA066829 | RYR1 | c.5271C>T (p.His1757=) c.5268C>T (p.His1756=) n.5354C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485930dup | CA2335046319 | RYR1 | c.5275dup (p.Arg1759ProfsTer?) c.5272dup (p.Arg1758ProfsTer?) n.5358dup | dbSNP |
19 | g.38485930del | CA645615240 | RYR1 | c.5275del (p.Arg1759GlyfsTer13) c.5272del (p.Arg1758GlyfsTer13) n.5358del | COSMIC |
19 | g.38485927C>A | CA405654379 | RYR1 | c.5272C>A (p.Pro1758Thr) c.5269C>A (p.Pro1757Thr) n.5355C>A | gnomAD v4 |
19 | g.38485927C>G | CA405654381 | RYR1 | c.5272C>G (p.Pro1758Ala) c.5269C>G (p.Pro1757Ala) n.5355C>G | |
19 | g.38485927C>T | CA405654378 | RYR1 | c.5272C>T (p.Pro1758Ser) c.5269C>T (p.Pro1757Ser) n.5355C>T | gnomAD v4 |
19 | g.38485928C>A | CA405654384 | RYR1 | c.5273C>A (p.Pro1758His) c.5270C>A (p.Pro1757His) n.5356C>A | |
19 | g.38485928C= | CA2335046321 | RYR1 | c.5273C= (p.Pro1758=) c.5270C= (p.Pro1757=) n.5356C= | |
19 | g.38485928C>G | CA405654386 | RYR1 | c.5273C>G (p.Pro1758Arg) c.5270C>G (p.Pro1757Arg) n.5356C>G | ClinVar gnomAD v4 |
19 | g.38485928C>T | CA066833 | RYR1 | c.5273C>T (p.Pro1758Leu) c.5270C>T (p.Pro1757Leu) n.5356C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485929C>A | CA081746 | RYR1 | c.5274C>A (p.Pro1758=) c.5271C>A (p.Pro1757=) n.5357C>A | |
19 | g.38485929C>G | CA507353341 | RYR1 | c.5274C>G (p.Pro1758=) c.5271C>G (p.Pro1757=) n.5357C>G | |
19 | g.38485929C>T | CA081747 | RYR1 | c.5274C>T (p.Pro1758=) c.5271C>T (p.Pro1757=) n.5357C>T | |
19 | g.38485930C>A | CA507353343 | RYR1 | c.5275C>A (p.Arg1759=) c.5272C>A (p.Arg1758=) n.5358C>A | |
19 | g.38485930C= | CA2335046322 | RYR1 | c.5275C= (p.Arg1759=) c.5272C= (p.Arg1758=) n.5358C= | |
19 | g.38485930C>G | CA405654390 | RYR1 | c.5275C>G (p.Arg1759Gly) c.5272C>G (p.Arg1758Gly) n.5358C>G | dbSNP |
19 | g.38485930C>T | CA066837 | RYR1 | c.5275C>T (p.Arg1759Trp) c.5272C>T (p.Arg1758Trp) n.5358C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485931G>A | CA066838 | RYR1 | c.5276G>A (p.Arg1759Gln) c.5273G>A (p.Arg1758Gln) n.5359G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485931G>C | CA308093475 | RYR1 | c.5276G>C (p.Arg1759Pro) c.5273G>C (p.Arg1758Pro) n.5359G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485931G= | CA2335046323 | RYR1 | c.5276G= (p.Arg1759=) c.5273G= (p.Arg1758=) n.5359G= | |
19 | g.38485931G>T | CA405654395 | RYR1 | c.5276G>T (p.Arg1759Leu) c.5273G>T (p.Arg1758Leu) n.5359G>T | gnomAD v4 |
19 | g.38485932G>A | CA507353344 | RYR1 | c.5277G>A (p.Arg1759=) c.5274G>A (p.Arg1758=) n.5360G>A | ClinVar dbSNP |
19 | g.38485932G>C | CA507353345 | RYR1 | c.5277G>C (p.Arg1759=) c.5274G>C (p.Arg1758=) n.5360G>C | |
19 | g.38485932G>T | CA507353346 | RYR1 | c.5277G>T (p.Arg1759=) c.5274G>T (p.Arg1758=) n.5360G>T | |
19 | g.38485933C>A | CA405654399 | RYR1 | c.5278C>A (p.His1760Asn) c.5275C>A (p.His1759Asn) n.5361C>A | COSMIC |
19 | g.38485933C= | CA2335046324 | RYR1 | c.5278C= (p.His1760=) c.5275C= (p.His1759=) n.5361C= | |
19 | g.38485933C>G | CA405654402 | RYR1 | c.5278C>G (p.His1760Asp) c.5275C>G (p.His1759Asp) n.5361C>G | |
19 | g.38485933C>T | CA066844 | RYR1 | c.5278C>T (p.His1760Tyr) c.5275C>T (p.His1759Tyr) n.5361C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485934A= | CA2335046325 | RYR1 | c.5279A= (p.His1760=) c.5276A= (p.His1759=) n.5362A= | |
19 | g.38485934A>C | CA405654406 | RYR1 | c.5279A>C (p.His1760Pro) c.5276A>C (p.His1759Pro) n.5362A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485934A>G | CA066848 | RYR1 | c.5279A>G (p.His1760Arg) c.5276A>G (p.His1759Arg) n.5362A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485934A>T | CA066849 | RYR1 | c.5279A>T (p.His1760Leu) c.5276A>T (p.His1759Leu) n.5362A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485935del | CA2840058839 | RYR1 | c.5280del (p.His1760GlnfsTer12) c.5277del (p.His1759GlnfsTer12) n.5363del | |
19 | g.38485935T>A | CA405654422 | RYR1 | c.5280T>A (p.His1760Gln) c.5277T>A (p.His1759Gln) n.5363T>A | |
19 | g.38485935T>C | CA507353348 | RYR1 | c.5280T>C (p.His1760=) c.5277T>C (p.His1759=) n.5363T>C | |
19 | g.38485935T>G | CA405654420 | RYR1 | c.5280T>G (p.His1760Gln) c.5277T>G (p.His1759Gln) n.5363T>G | |
19 | g.38485936G>A | CA308093518 | RYR1 | c.5281G>A (p.Gly1761Ser) c.5278G>A (p.Gly1760Ser) n.5364G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485936G>C | CA405654433 | RYR1 | c.5281G>C (p.Gly1761Arg) c.5278G>C (p.Gly1760Arg) n.5364G>C | |
19 | g.38485936G= | CA2335046326 | RYR1 | c.5281G= (p.Gly1761=) c.5278G= (p.Gly1760=) n.5364G= | |
19 | g.38485936G>T | CA405654430 | RYR1 | c.5281G>T (p.Gly1761Cys) c.5278G>T (p.Gly1760Cys) n.5364G>T | gnomAD v4 |
19 | g.38485937G>A | CA405654436 | RYR1 | c.5282G>A (p.Gly1761Asp) c.5279G>A (p.Gly1760Asp) n.5365G>A | ClinVar gnomAD v2 gnomAD v4 |
19 | g.38485937G>C | CA405654441 | RYR1 | c.5282G>C (p.Gly1761Ala) c.5279G>C (p.Gly1760Ala) n.5365G>C | |
19 | g.38485937G>T | CA405654438 | RYR1 | c.5282G>T (p.Gly1761Val) c.5279G>T (p.Gly1760Val) n.5365G>T | gnomAD v4 |
19 | g.38485938C>A | CA507353350 | RYR1 | c.5283C>A (p.Gly1761=) c.5280C>A (p.Gly1760=) n.5366C>A | |
19 | g.38485938C= | CA2335046327 | RYR1 | c.5283C= (p.Gly1761=) c.5280C= (p.Gly1760=) n.5366C= | |
19 | g.38485938C>G | CA507353351 | RYR1 | c.5283C>G (p.Gly1761=) c.5280C>G (p.Gly1760=) n.5366C>G | ClinVar gnomAD v4 |
19 | g.38485938C>T | CA066853 | RYR1 | c.5283C>T (p.Gly1761=) c.5280C>T (p.Gly1760=) n.5366C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485939C>A | CA405654447 | RYR1 | c.5284C>A (p.Leu1762Met) c.5281C>A (p.Leu1761Met) n.5367C>A | gnomAD v4 |
19 | g.38485939C>G | CA405654448 | RYR1 | c.5284C>G (p.Leu1762Val) c.5281C>G (p.Leu1761Val) n.5367C>G | |
19 | g.38485939C>T | CA507353353 | RYR1 | c.5284C>T (p.Leu1762=) c.5281C>T (p.Leu1761=) n.5367C>T | gnomAD v4 |
19 | g.38485939_38485940insA | CA2840058840 | RYR1 | c.5284_5285insA (p.Leu1762HisfsTer?) c.5281_5282insA (p.Leu1761HisfsTer?) n.5367_5368insA | |
19 | g.38485940T>A | CA405654450 | RYR1 | c.5285T>A (p.Leu1762Gln) c.5282T>A (p.Leu1761Gln) n.5368T>A | |
19 | g.38485940T>C | CA405654452 | RYR1 | c.5285T>C (p.Leu1762Pro) c.5282T>C (p.Leu1761Pro) n.5368T>C | |
19 | g.38485940T>G | CA405654455 | RYR1 | c.5285T>G (p.Leu1762Arg) c.5282T>G (p.Leu1761Arg) n.5368T>G | |
19 | g.38485941G>A | CA507353355 | RYR1 | c.5286G>A (p.Leu1762=) c.5283G>A (p.Leu1761=) n.5369G>A | |
19 | g.38485941G>C | CA507353357 | RYR1 | c.5286G>C (p.Leu1762=) c.5283G>C (p.Leu1761=) n.5369G>C | ClinVar dbSNP gnomAD v4 |
19 | g.38485941G= | CA2335046328 | RYR1 | c.5286G= (p.Leu1762=) c.5283G= (p.Leu1761=) n.5369G= | |
19 | g.38485941G>T | CA507353356 | RYR1 | c.5286G>T (p.Leu1762=) c.5283G>T (p.Leu1761=) n.5369G>T | |
19 | g.38485942C>A | CA405654459 | RYR1 | c.5287C>A (p.Pro1763Thr) c.5284C>A (p.Pro1762Thr) n.5370C>A | |
19 | g.38485942C= | CA2335046329 | RYR1 | c.5287C= (p.Pro1763=) c.5284C= (p.Pro1762=) n.5370C= | |
19 | g.38485942C>G | CA405654461 | RYR1 | c.5287C>G (p.Pro1763Ala) c.5284C>G (p.Pro1762Ala) n.5370C>G | |
19 | g.38485942C>T | CA066855 | RYR1 | c.5287C>T (p.Pro1763Ser) c.5284C>T (p.Pro1762Ser) n.5370C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485943C>A | CA405654467 | RYR1 | c.5288C>A (p.Pro1763Gln) c.5285C>A (p.Pro1762Gln) n.5371C>A | |
19 | g.38485943C= | CA2335046330 | RYR1 | c.5288C= (p.Pro1763=) c.5285C= (p.Pro1762=) n.5371C= | |
19 | g.38485943C>G | CA405654469 | RYR1 | c.5288C>G (p.Pro1763Arg) c.5285C>G (p.Pro1762Arg) n.5371C>G | |
19 | g.38485943C>T | CA405654473 | RYR1 | c.5288C>T (p.Pro1763Leu) c.5285C>T (p.Pro1762Leu) n.5371C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485944G>A | CA066858 | RYR1 | c.5289G>A (p.Pro1763=) c.5286G>A (p.Pro1762=) n.5372G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485944G>C | CA066863 | RYR1 | c.5289G>C (p.Pro1763=) c.5286G>C (p.Pro1762=) n.5372G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485944G= | CA2335046331 | RYR1 | c.5289G= (p.Pro1763=) c.5286G= (p.Pro1762=) n.5372G= | |
19 | g.38485944G>T | CA507353359 | RYR1 | c.5289G>T (p.Pro1763=) c.5286G>T (p.Pro1762=) n.5372G>T | |
19 | g.38485945G>A | CA405654481 | RYR1 | c.5290G>A (p.Gly1764Arg) c.5287G>A (p.Gly1763Arg) n.5373G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485945G>C | CA405654483 | RYR1 | c.5290G>C (p.Gly1764Arg) c.5287G>C (p.Gly1763Arg) n.5373G>C | |
19 | g.38485945G= | CA2335046332 | RYR1 | c.5290G= (p.Gly1764=) c.5287G= (p.Gly1763=) n.5373G= | |
19 | g.38485945G>T | CA405654487 | RYR1 | c.5290G>T (p.Gly1764Ter) c.5287G>T (p.Gly1763Ter) n.5373G>T | dbSNP gnomAD v2 |
19 | g.38485946G>A | CA405654490 | RYR1 | c.5291G>A (p.Gly1764Glu) c.5288G>A (p.Gly1763Glu) n.5374G>A | |
19 | g.38485946G>C | CA405654493 | RYR1 | c.5291G>C (p.Gly1764Ala) c.5288G>C (p.Gly1763Ala) n.5374G>C | |
19 | g.38485946G>T | CA405654495 | RYR1 | c.5291G>T (p.Gly1764Val) c.5288G>T (p.Gly1763Val) n.5374G>T | gnomAD v4 |
19 | g.38485947A>C | CA507353360 | RYR1 | c.5292A>C (p.Gly1764=) c.5289A>C (p.Gly1763=) n.5375A>C | |
19 | g.38485947A>G | CA507353361 | RYR1 | c.5292A>G (p.Gly1764=) c.5289A>G (p.Gly1763=) n.5375A>G | |
19 | g.38485947A>T | CA507353362 | RYR1 | c.5292A>T (p.Gly1764=) c.5289A>T (p.Gly1763=) n.5375A>T | |
19 | g.38485948G>A | CA405654498 | RYR1 | c.5293G>A (p.Val1765Ile) c.5290G>A (p.Val1764Ile) n.5376G>A | gnomAD v4 COSMIC |
19 | g.38485948G>C | CA405654501 | RYR1 | c.5293G>C (p.Val1765Leu) c.5290G>C (p.Val1764Leu) n.5376G>C | |
19 | g.38485948G>T | CA405654503 | RYR1 | c.5293G>T (p.Val1765Phe) c.5290G>T (p.Val1764Phe) n.5376G>T | |
19 | g.38485949T>A | CA405654506 | RYR1 | c.5294T>A (p.Val1765Asp) c.5291T>A (p.Val1764Asp) n.5377T>A | |
19 | g.38485949T>C | CA405654509 | RYR1 | c.5294T>C (p.Val1765Ala) c.5291T>C (p.Val1764Ala) n.5377T>C | gnomAD v4 |
19 | g.38485949T>G | CA405654512 | RYR1 | c.5294T>G (p.Val1765Gly) c.5291T>G (p.Val1764Gly) n.5377T>G | |
19 | g.38485950T>A | CA507353364 | RYR1 | c.5295T>A (p.Val1765=) c.5292T>A (p.Val1764=) n.5378T>A | dbSNP |
19 | g.38485950T>C | CA507353365 | RYR1 | c.5295T>C (p.Val1765=) c.5292T>C (p.Val1764=) n.5378T>C | gnomAD v4 |
19 | g.38485950T>G | CA507353363 | RYR1 | c.5295T>G (p.Val1765=) c.5292T>G (p.Val1764=) n.5378T>G | |
19 | g.38485950_38485951del | CA2840058841 | RYR1 | c.5295_5296del (p.Gly1766SerfsTer?) c.5292_5293del (p.Gly1765SerfsTer?) n.5378_5379del | |
19 | g.38485951G>A | CA405654516 | RYR1 | c.5296G>A (p.Gly1766Arg) c.5293G>A (p.Gly1765Arg) n.5379G>A | |
19 | g.38485951G>C | CA405654521 | RYR1 | c.5296G>C (p.Gly1766Arg) c.5293G>C (p.Gly1765Arg) n.5379G>C | |
19 | g.38485951G>T | CA405654519 | RYR1 | c.5296G>T (p.Gly1766Ter) c.5293G>T (p.Gly1765Ter) n.5379G>T | |
19 | g.38485952G>A | CA405654526 | RYR1 | c.5297G>A (p.Gly1766Glu) c.5294G>A (p.Gly1765Glu) n.5380G>A | gnomAD v4 |
19 | g.38485952G>C | CA405654528 | RYR1 | c.5297G>C (p.Gly1766Ala) c.5294G>C (p.Gly1765Ala) n.5380G>C | ClinVar gnomAD v4 COSMIC |
19 | g.38485952G>T | CA405654531 | RYR1 | c.5297G>T (p.Gly1766Val) c.5294G>T (p.Gly1765Val) n.5380G>T | |
19 | g.38485953A>C | CA507353366 | RYR1 | c.5298A>C (p.Gly1766=) c.5295A>C (p.Gly1765=) n.5381A>C | |
19 | g.38485953A>G | CA507353367 | RYR1 | c.5298A>G (p.Gly1766=) c.5295A>G (p.Gly1765=) n.5381A>G | |
19 | g.38485953A>T | CA507353368 | RYR1 | c.5298A>T (p.Gly1766=) c.5295A>T (p.Gly1765=) n.5381A>T | |
19 | g.38485954G>A | CA405654535 | RYR1 | c.5299G>A (p.Val1767Ile) c.5296G>A (p.Val1766Ile) n.5382G>A | |
19 | g.38485954G>C | CA405654539 | RYR1 | c.5299G>C (p.Val1767Leu) c.5296G>C (p.Val1766Leu) n.5382G>C | |
19 | g.38485954G>T | CA405654540 | RYR1 | c.5299G>T (p.Val1767Phe) c.5296G>T (p.Val1766Phe) n.5382G>T | gnomAD v4 |
19 | g.38485955T>A | CA405654543 | RYR1 | c.5300T>A (p.Val1767Asp) c.5297T>A (p.Val1766Asp) n.5383T>A | |
19 | g.38485955T>C | CA405654545 | RYR1 | c.5300T>C (p.Val1767Ala) c.5297T>C (p.Val1766Ala) n.5383T>C | |
19 | g.38485955T>G | CA405654547 | RYR1 | c.5300T>G (p.Val1767Gly) c.5297T>G (p.Val1766Gly) n.5383T>G | |
19 | g.38485956C>A | CA507353369 | RYR1 | c.5301C>A (p.Val1767=) c.5298C>A (p.Val1766=) n.5384C>A | gnomAD v4 |
19 | g.38485956C= | CA2335046333 | RYR1 | c.5301C= (p.Val1767=) c.5298C= (p.Val1766=) n.5384C= | |
19 | g.38485956C>G | CA507353370 | RYR1 | c.5301C>G (p.Val1767=) c.5298C>G (p.Val1766=) n.5384C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485956C>T | CA507353371 | RYR1 | c.5301C>T (p.Val1767=) c.5298C>T (p.Val1766=) n.5384C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485957A>C | CA405654550 | RYR1 | c.5302A>C (p.Thr1768Pro) c.5299A>C (p.Thr1767Pro) n.5385A>C | |
19 | g.38485957A>G | CA405654553 | RYR1 | c.5302A>G (p.Thr1768Ala) c.5299A>G (p.Thr1767Ala) n.5385A>G | |
19 | g.38485957A>T | CA405654556 | RYR1 | c.5302A>T (p.Thr1768Ser) c.5299A>T (p.Thr1767Ser) n.5385A>T | |
19 | g.38485958C>A | CA405654565 | RYR1 | c.5303C>A (p.Thr1768Asn) c.5300C>A (p.Thr1767Asn) n.5386C>A | |
19 | g.38485958C= | CA2335046334 | RYR1 | c.5303C= (p.Thr1768=) c.5300C= (p.Thr1767=) n.5386C= | |
19 | g.38485958C>G | CA405654560 | RYR1 | c.5303C>G (p.Thr1768Ser) c.5300C>G (p.Thr1767Ser) n.5386C>G | |
19 | g.38485958C>T | CA405654563 | RYR1 | c.5303C>T (p.Thr1768Ile) c.5300C>T (p.Thr1767Ile) n.5386C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485959C>A | CA507353372 | RYR1 | c.5304C>A (p.Thr1768=) c.5301C>A (p.Thr1767=) n.5387C>A | |
19 | g.38485959C>G | CA507353373 | RYR1 | c.5304C>G (p.Thr1768=) c.5301C>G (p.Thr1767=) n.5387C>G | |
19 | g.38485959C>T | CA507353374 | RYR1 | c.5304C>T (p.Thr1768=) c.5301C>T (p.Thr1767=) n.5387C>T | gnomAD v4 |
19 | g.38485960A>C | CA405654567 | RYR1 | c.5305A>C (p.Thr1769Pro) c.5302A>C (p.Thr1768Pro) n.5388A>C | gnomAD v4 |
19 | g.38485960A>G | CA405654570 | RYR1 | c.5305A>G (p.Thr1769Ala) c.5302A>G (p.Thr1768Ala) n.5388A>G | |
19 | g.38485960A>T | CA405654573 | RYR1 | c.5305A>T (p.Thr1769Ser) c.5302A>T (p.Thr1768Ser) n.5388A>T | |
19 | g.38485961C>A | CA405654575 | RYR1 | c.5306C>A (p.Thr1769Asn) c.5303C>A (p.Thr1768Asn) n.5389C>A | |
19 | g.38485961C= | CA2335046335 | RYR1 | c.5306C= (p.Thr1769=) c.5303C= (p.Thr1768=) n.5389C= | |
19 | g.38485961C>G | CA405654576 | RYR1 | c.5306C>G (p.Thr1769Ser) c.5303C>G (p.Thr1768Ser) n.5389C>G | |
19 | g.38485961C>T | CA405654581 | RYR1 | c.5306C>T (p.Thr1769Ile) c.5303C>T (p.Thr1768Ile) n.5389C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485962T>A | CA507353375 | RYR1 | c.5307T>A (p.Thr1769=) c.5304T>A (p.Thr1768=) n.5390T>A | |
19 | g.38485962T>C | CA507353376 | RYR1 | c.5307T>C (p.Thr1769=) c.5304T>C (p.Thr1768=) n.5390T>C | ClinVar |
19 | g.38485962T>G | CA507353377 | RYR1 | c.5307T>G (p.Thr1769=) c.5304T>G (p.Thr1768=) n.5390T>G | |
19 | g.38485963T>A | CA405654585 | RYR1 | c.5308T>A (p.Ser1770Thr) c.5305T>A (p.Ser1769Thr) n.5391T>A | |
19 | g.38485963T>C | CA405654588 | RYR1 | c.5308T>C (p.Ser1770Pro) c.5305T>C (p.Ser1769Pro) n.5391T>C | |
19 | g.38485963T>G | CA066870 | RYR1 | c.5308T>G (p.Ser1770Ala) c.5305T>G (p.Ser1769Ala) n.5391T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485963T= | CA2335046336 | RYR1 | c.5308T= (p.Ser1770=) c.5305T= (p.Ser1769=) n.5391T= | |
19 | g.38485964C>A | CA405654594 | RYR1 | c.5309C>A (p.Ser1770Ter) c.5306C>A (p.Ser1769Ter) n.5392C>A | ClinVar dbSNP gnomAD v2 |
19 | g.38485964C= | CA2335046337 | RYR1 | c.5309C= (p.Ser1770=) c.5306C= (p.Ser1769=) n.5392C= | |
19 | g.38485964C>G | CA405654605 | RYR1 | c.5309C>G (p.Ser1770Trp) c.5306C>G (p.Ser1769Trp) n.5392C>G | |
19 | g.38485964C>T | CA024504 | RYR1 | c.5309C>T (p.Ser1770Leu) c.5306C>T (p.Ser1769Leu) n.5392C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.38485965G>A | CA507353378 | RYR1 | c.5310G>A (p.Ser1770=) c.5307G>A (p.Ser1769=) n.5393G>A | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.38485965G>C | CA507353379 | RYR1 | c.5310G>C (p.Ser1770=) c.5307G>C (p.Ser1769=) n.5393G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485965G= | CA2335046338 | RYR1 | c.5310G= (p.Ser1770=) c.5307G= (p.Ser1769=) n.5393G= | |
19 | g.38485965G>T | CA507353380 | RYR1 | c.5310G>T (p.Ser1770=) c.5307G>T (p.Ser1769=) n.5393G>T | ClinVar dbSNP gnomAD v4 |
19 | g.38485966C>A | CA405654610 | RYR1 | c.5311C>A (p.Leu1771Met) c.5308C>A (p.Leu1770Met) n.5394C>A | ClinVar dbSNP |
19 | g.38485966C>G | CA405654613 | RYR1 | c.5311C>G (p.Leu1771Val) c.5308C>G (p.Leu1770Val) n.5394C>G | |
19 | g.38485966C>T | CA507353381 | RYR1 | c.5311C>T (p.Leu1771=) c.5308C>T (p.Leu1770=) n.5394C>T | |
19 | g.38485967T>A | CA405654615 | RYR1 | c.5312T>A (p.Leu1771Gln) c.5309T>A (p.Leu1770Gln) n.5395T>A | |
19 | g.38485967T>C | CA405654620 | RYR1 | c.5312T>C (p.Leu1771Pro) c.5309T>C (p.Leu1770Pro) n.5395T>C | |
19 | g.38485967T>G | CA405654617 | RYR1 | c.5312T>G (p.Leu1771Arg) c.5309T>G (p.Leu1770Arg) n.5395T>G | |
19 | g.38485968G>A | CA507353382 | RYR1 | c.5313G>A (p.Leu1771=) c.5310G>A (p.Leu1770=) n.5396G>A | COSMIC |
19 | g.38485968G>C | CA507353383 | RYR1 | c.5313G>C (p.Leu1771=) c.5310G>C (p.Leu1770=) n.5396G>C | |
19 | g.38485968G>T | CA507353384 | RYR1 | c.5313G>T (p.Leu1771=) c.5310G>T (p.Leu1770=) n.5396G>T | |
19 | g.38485969A= | CA2335046339 | RYR1 | c.5314A= (p.Arg1772=) c.5311A= (p.Arg1771=) n.5397A= | |
19 | g.38485969A>C | CA507353385 | RYR1 | c.5314A>C (p.Arg1772=) c.5311A>C (p.Arg1771=) n.5397A>C | ClinVar |
19 | g.38485969A>G | CA405654623 | RYR1 | c.5314A>G (p.Arg1772Gly) c.5311A>G (p.Arg1771Gly) n.5397A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485969A>T | CA405654626 | RYR1 | c.5314A>T (p.Arg1772Trp) c.5311A>T (p.Arg1771Trp) n.5397A>T | |
19 | g.38485970G>A | CA405654628 | RYR1 | c.5315G>A (p.Arg1772Lys) c.5312G>A (p.Arg1771Lys) n.5398G>A | |
19 | g.38485970G>C | CA405654631 | RYR1 | c.5315G>C (p.Arg1772Thr) c.5312G>C (p.Arg1771Thr) n.5398G>C | ClinVar dbSNP gnomAD v4 |
19 | g.38485970G= | CA2335046340 | RYR1 | c.5315G= (p.Arg1772=) c.5312G= (p.Arg1771=) n.5398G= | |
19 | g.38485970G>T | CA405654633 | RYR1 | c.5315G>T (p.Arg1772Met) c.5312G>T (p.Arg1771Met) n.5398G>T | gnomAD v4 |
19 | g.38485971G>A | CA507353386 | RYR1 | c.5316G>A (p.Arg1772=) c.5313G>A (p.Arg1771=) n.5399G>A | |
19 | g.38485971G>C | CA405654635 | RYR1 | c.5316G>C (p.Arg1772Ser) c.5313G>C (p.Arg1771Ser) n.5399G>C | |
19 | g.38485971G>T | CA405654638 | RYR1 | c.5316G>T (p.Arg1772Ser) c.5313G>T (p.Arg1771Ser) n.5399G>T | |
19 | g.38485972C>A | CA405654641 | RYR1 | c.5317C>A (p.Pro1773Thr) c.5314C>A (p.Pro1772Thr) n.5400C>A | |
19 | g.38485972C= | CA2335046341 | RYR1 | c.5317C= (p.Pro1773=) c.5314C= (p.Pro1772=) n.5400C= | |
19 | g.38485972C>G | CA405654644 | RYR1 | c.5317C>G (p.Pro1773Ala) c.5314C>G (p.Pro1772Ala) n.5400C>G | ClinVar dbSNP |
19 | g.38485972C>T | CA066877 | RYR1 | c.5317C>T (p.Pro1773Ser) c.5314C>T (p.Pro1772Ser) n.5400C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38485976dup | CA2832581091 | RYR1 | c.5321dup (p.His1775AlafsTer?) c.5318dup (p.His1774AlafsTer?) n.5404dup | |
19 | g.38485973C>A | CA405654654 | RYR1 | c.5318C>A (p.Pro1773His) c.5315C>A (p.Pro1772His) n.5401C>A | |
19 | g.38485973C= | CA2335046342 | RYR1 | c.5318C= (p.Pro1773=) c.5315C= (p.Pro1772=) n.5401C= | |
19 | g.38485973C>G | CA405654652 | RYR1 | c.5318C>G (p.Pro1773Arg) c.5315C>G (p.Pro1772Arg) n.5401C>G | ClinVar dbSNP |
19 | g.38485973C>T | CA405654649 | RYR1 | c.5318C>T (p.Pro1773Leu) c.5315C>T (p.Pro1772Leu) n.5401C>T | |
19 | g.38485974C>A | CA507353387 | RYR1 | c.5319C>A (p.Pro1773=) c.5316C>A (p.Pro1772=) n.5402C>A | |
19 | g.38485974C= | CA2335046343 | RYR1 | c.5319C= (p.Pro1773=) c.5316C= (p.Pro1772=) n.5402C= | |
19 | g.38485974C>G | CA507353388 | RYR1 | c.5319C>G (p.Pro1773=) c.5316C>G (p.Pro1772=) n.5402C>G | gnomAD v4 |
19 | g.38485974C>T | CA308093632 | RYR1 | c.5319C>T (p.Pro1773=) c.5316C>T (p.Pro1772=) n.5402C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38485975C>A | CA405654656 | RYR1 | c.5320C>A (p.Pro1774Thr) c.5317C>A (p.Pro1773Thr) n.5403C>A | |
19 | g.38485975C>G | CA405654659 | RYR1 | c.5320C>G (p.Pro1774Ala) c.5317C>G (p.Pro1773Ala) n.5403C>G | |
19 | g.38485975C>T | CA081758 | RYR1 | c.5320C>T (p.Pro1774Ser) c.5317C>T (p.Pro1773Ser) n.5403C>T | COSMIC |
19 | g.38485976C>A | CA308093638 | RYR1 | c.5321C>A (p.Pro1774Gln) c.5318C>A (p.Pro1773Gln) n.5404C>A | dbSNP gnomAD v4 |
19 | g.38485976C= | CA2335046344 | RYR1 | c.5321C= (p.Pro1774=) c.5318C= (p.Pro1773=) n.5404C= | |
19 | g.38485976C>G | CA405654665 | RYR1 | c.5321C>G (p.Pro1774Arg) c.5318C>G (p.Pro1773Arg) n.5404C>G | |
19 | g.38485976C>T | CA066879 | RYR1 | c.5321C>T (p.Pro1774Leu) c.5318C>T (p.Pro1773Leu) n.5404C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38485977G>A | CA308093666 | RYR1 | c.5322G>A (p.Pro1774=) c.5319G>A (p.Pro1773=) n.5405G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485977G>C | CA507353389 | RYR1 | c.5322G>C (p.Pro1774=) c.5319G>C (p.Pro1773=) n.5405G>C | |
19 | g.38485977G= | CA2335046345 | RYR1 | c.5322G= (p.Pro1774=) c.5319G= (p.Pro1773=) n.5405G= | |
19 | g.38485977G>T | CA066883 | RYR1 | c.5322G>T (p.Pro1774=) c.5319G>T (p.Pro1773=) n.5405G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485978C>A | CA405654673 | RYR1 | c.5323C>A (p.His1775Asn) c.5320C>A (p.His1774Asn) n.5406C>A | |
19 | g.38485978C>G | CA405654676 | RYR1 | c.5323C>G (p.His1775Asp) c.5320C>G (p.His1774Asp) n.5406C>G | |
19 | g.38485978C>T | CA405654678 | RYR1 | c.5323C>T (p.His1775Tyr) c.5320C>T (p.His1774Tyr) n.5406C>T | |
19 | g.38485979A= | CA2335046346 | RYR1 | c.5324A= (p.His1775=) c.5321A= (p.His1774=) n.5407A= | |
19 | g.38485979A>C | CA405654684 | RYR1 | c.5324A>C (p.His1775Pro) c.5321A>C (p.His1774Pro) n.5407A>C | |
19 | g.38485979A>G | CA066887 | RYR1 | c.5324A>G (p.His1775Arg) c.5321A>G (p.His1774Arg) n.5407A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485979A>T | CA405654681 | RYR1 | c.5324A>T (p.His1775Leu) c.5321A>T (p.His1774Leu) n.5407A>T | |
19 | g.38485980T>A | CA405654688 | RYR1 | c.5325T>A (p.His1775Gln) c.5322T>A (p.His1774Gln) n.5408T>A | |
19 | g.38485980T>C | CA507353390 | RYR1 | c.5325T>C (p.His1775=) c.5322T>C (p.His1774=) n.5408T>C | |
19 | g.38485980T>G | CA405654690 | RYR1 | c.5325T>G (p.His1775Gln) c.5322T>G (p.His1774Gln) n.5408T>G | ClinVar |
19 | g.38485981C>A | CA405654693 | RYR1 | c.5326C>A (p.His1776Asn) c.5323C>A (p.His1775Asn) n.5409C>A | |
19 | g.38485981C>G | CA405654695 | RYR1 | c.5326C>G (p.His1776Asp) c.5323C>G (p.His1775Asp) n.5409C>G | |
19 | g.38485981C>T | CA405654698 | RYR1 | c.5326C>T (p.His1776Tyr) c.5323C>T (p.His1775Tyr) n.5409C>T | COSMIC |
19 | g.38485982A>C | CA405654701 | RYR1 | c.5327A>C (p.His1776Pro) c.5324A>C (p.His1775Pro) n.5410A>C | |
19 | g.38485982A>G | CA081761 | RYR1 | c.5327A>G (p.His1776Arg) c.5324A>G (p.His1775Arg) n.5410A>G | |
19 | g.38485982A>T | CA405654704 | RYR1 | c.5327A>T (p.His1776Leu) c.5324A>T (p.His1775Leu) n.5410A>T | |
19 | g.38485983T>A | CA405654707 | RYR1 | c.5328T>A (p.His1776Gln) c.5325T>A (p.His1775Gln) n.5411T>A | |
19 | g.38485983T>C | CA507353391 | RYR1 | c.5328T>C (p.His1776=) c.5325T>C (p.His1775=) n.5411T>C | |
19 | g.38485983T>G | CA405654710 | RYR1 | c.5328T>G (p.His1776Gln) c.5325T>G (p.His1775Gln) n.5411T>G | |
19 | g.38485984T>A | CA405654713 | RYR1 | c.5329T>A (p.Phe1777Ile) c.5326T>A (p.Phe1776Ile) n.5412T>A | |
19 | g.38485984T>C | CA405654715 | RYR1 | c.5329T>C (p.Phe1777Leu) c.5326T>C (p.Phe1776Leu) n.5412T>C | |
19 | g.38485984T>G | CA405654717 | RYR1 | c.5329T>G (p.Phe1777Val) c.5326T>G (p.Phe1776Val) n.5412T>G | |
19 | g.38485985T>A | CA405654723 | RYR1 | c.5330T>A (p.Phe1777Tyr) c.5327T>A (p.Phe1776Tyr) n.5413T>A | |
19 | g.38485985T>C | CA405654720 | RYR1 | c.5330T>C (p.Phe1777Ser) c.5327T>C (p.Phe1776Ser) n.5413T>C | COSMIC |
19 | g.38485985T>G | CA405654718 | RYR1 | c.5330T>G (p.Phe1777Cys) c.5327T>G (p.Phe1776Cys) n.5413T>G | dbSNP |
19 | g.38485985T= | CA2335046347 | RYR1 | c.5330T= (p.Phe1777=) c.5327T= (p.Phe1776=) n.5413T= | |
19 | g.38485986C>A | CA405654725 | RYR1 | c.5331C>A (p.Phe1777Leu) c.5328C>A (p.Phe1776Leu) n.5414C>A | |
19 | g.38485986C= | CA2335046348 | RYR1 | c.5331C= (p.Phe1777=) c.5328C= (p.Phe1776=) n.5414C= | |
19 | g.38485986C>G | CA405654726 | RYR1 | c.5331C>G (p.Phe1777Leu) c.5328C>G (p.Phe1776Leu) n.5414C>G | |
19 | g.38485986C>T | CA507353392 | RYR1 | c.5331C>T (p.Phe1777=) c.5328C>T (p.Phe1776=) n.5414C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485987T>A | CA405654727 | RYR1 | c.5332T>A (p.Ser1778Thr) c.5329T>A (p.Ser1777Thr) n.5415T>A | |
19 | g.38485987T>C | CA405654728 | RYR1 | c.5332T>C (p.Ser1778Pro) c.5329T>C (p.Ser1777Pro) n.5415T>C | |
19 | g.38485987T>G | CA405654730 | RYR1 | c.5332T>G (p.Ser1778Ala) c.5329T>G (p.Ser1777Ala) n.5415T>G | |
19 | g.38485988C>A | CA024506 | RYR1 | c.5333C>A (p.Ser1778Ter) c.5330C>A (p.Ser1777Ter) n.5416C>A | ClinVar dbSNP gnomAD v4 |
19 | g.38485988C= | CA2335046349 | RYR1 | c.5333C= (p.Ser1778=) c.5330C= (p.Ser1777=) n.5416C= | |
19 | g.38485988C>G | CA405654733 | RYR1 | c.5333C>G (p.Ser1778Trp) c.5330C>G (p.Ser1777Trp) n.5416C>G | |
19 | g.38485988C>T | CA066890 | RYR1 | c.5333C>T (p.Ser1778Leu) c.5330C>T (p.Ser1777Leu) n.5416C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38485989G>A | CA066894 | RYR1 | c.5334G>A (p.Ser1778=) c.5331G>A (p.Ser1777=) n.5417G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38485989G>C | CA507353393 | RYR1 | c.5334G>C (p.Ser1778=) c.5331G>C (p.Ser1777=) n.5417G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485989G= | CA2335046350 | RYR1 | c.5334G= (p.Ser1778=) c.5331G= (p.Ser1777=) n.5417G= | |
19 | g.38485989G>T | CA024509 | RYR1 | c.5334G>T (p.Ser1778=) c.5331G>T (p.Ser1777=) n.5417G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485990C>A | CA405654738 | RYR1 | c.5335C>A (p.Pro1779Thr) c.5332C>A (p.Pro1778Thr) n.5418C>A | |
19 | g.38485990C= | CA2335046351 | RYR1 | c.5335C= (p.Pro1779=) c.5332C= (p.Pro1778=) n.5418C= | |
19 | g.38485990C>G | CA405654740 | RYR1 | c.5335C>G (p.Pro1779Ala) c.5332C>G (p.Pro1778Ala) n.5418C>G | COSMIC |
19 | g.38485990C>T | CA066902 | RYR1 | c.5335C>T (p.Pro1779Ser) c.5332C>T (p.Pro1778Ser) n.5418C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38485995dup | CA633066093 | RYR1 | c.5340dup (p.Cys1781LeufsTer?) c.5337dup (p.Cys1780LeufsTer?) n.5423dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485995del | CA2825002783 | RYR1 | c.5340del (p.Cys1781ValfsTer?) c.5337del (p.Cys1780ValfsTer?) n.5423del | ClinVar |
19 | g.38485991C>A | CA066907 | RYR1 | c.5336C>A (p.Pro1779His) c.5333C>A (p.Pro1778His) n.5419C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485991C= | CA2335046352 | RYR1 | c.5336C= (p.Pro1779=) c.5333C= (p.Pro1778=) n.5419C= | |
19 | g.38485991C>G | CA405654744 | RYR1 | c.5336C>G (p.Pro1779Arg) c.5333C>G (p.Pro1778Arg) n.5419C>G | |
19 | g.38485991C>T | CA024511 | RYR1 | c.5336C>T (p.Pro1779Leu) c.5333C>T (p.Pro1778Leu) n.5419C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485992C>A | CA507353394 | RYR1 | c.5337C>A (p.Pro1779=) c.5334C>A (p.Pro1778=) n.5420C>A | |
19 | g.38485992C>G | CA507353395 | RYR1 | c.5337C>G (p.Pro1779=) c.5334C>G (p.Pro1778=) n.5420C>G | ClinVar |
19 | g.38485992C>T | CA507353396 | RYR1 | c.5337C>T (p.Pro1779=) c.5334C>T (p.Pro1778=) n.5420C>T | |
19 | g.38485993C>A | CA405654747 | RYR1 | c.5338C>A (p.Pro1780Thr) c.5335C>A (p.Pro1779Thr) n.5421C>A | dbSNP |
19 | g.38485993C= | CA2335046353 | RYR1 | c.5338C= (p.Pro1780=) c.5335C= (p.Pro1779=) n.5421C= | |
19 | g.38485993C>G | CA405654749 | RYR1 | c.5338C>G (p.Pro1780Ala) c.5335C>G (p.Pro1779Ala) n.5421C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485993C>T | CA081764 | RYR1 | c.5338C>T (p.Pro1780Ser) c.5335C>T (p.Pro1779Ser) n.5421C>T | gnomAD v4 COSMIC |
19 | g.38485994C>A | CA081765 | RYR1 | c.5339C>A (p.Pro1780His) c.5336C>A (p.Pro1779His) n.5422C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485994C= | CA2335046354 | RYR1 | c.5339C= (p.Pro1780=) c.5336C= (p.Pro1779=) n.5422C= | |
19 | g.38485994C>G | CA9415807 | RYR1 | c.5339C>G (p.Pro1780Arg) c.5336C>G (p.Pro1779Arg) n.5422C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485994C>T | CA9415808 | RYR1 | c.5339C>T (p.Pro1780Leu) c.5336C>T (p.Pro1779Leu) n.5422C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485994_38485996delinsCCT | CA2335046355 | RYR1 | c.5339_5341delinsCCT (p.Pro1780=) c.5336_5338delinsCCT (p.Pro1779=) n.5422_5424delinsCCT | |
19 | g.38485995C>A | CA507353397 | RYR1 | c.5340C>A (p.Pro1780=) c.5337C>A (p.Pro1779=) n.5423C>A | gnomAD v4 |
19 | g.38485995C>G | CA507353398 | RYR1 | c.5340C>G (p.Pro1780=) c.5337C>G (p.Pro1779=) n.5423C>G | |
19 | g.38485995C>T | CA507353399 | RYR1 | c.5340C>T (p.Pro1780=) c.5337C>T (p.Pro1779=) n.5423C>T | |
19 | g.38485995_38485996del | CA9415809 | RYR1 | c.5340_5341del (p.Cys1781PhefsTer?) c.5337_5338del (p.Cys1780PhefsTer?) n.5423_5424del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485996T>A | CA405654757 | RYR1 | c.5341T>A (p.Cys1781Ser) c.5338T>A (p.Cys1780Ser) n.5424T>A | |
19 | g.38485996T>C | CA066926 | RYR1 | c.5341T>C (p.Cys1781Arg) c.5338T>C (p.Cys1780Arg) n.5424T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485996T>G | CA405654756 | RYR1 | c.5341T>G (p.Cys1781Gly) c.5338T>G (p.Cys1780Gly) n.5424T>G | |
19 | g.38485996T= | CA2335046356 | RYR1 | c.5341T= (p.Cys1781=) c.5338T= (p.Cys1780=) n.5424T= | |
19 | g.38485997_38485999del | CA081766 | RYR1 | c.5342_5344del (p.Cys1781del) c.5339_5341del (p.Cys1780del) n.5425_5427del | |
19 | g.38485997G>A | CA405654759 | RYR1 | c.5342G>A (p.Cys1781Tyr) c.5339G>A (p.Cys1780Tyr) n.5425G>A | |
19 | g.38485997G>C | CA405654761 | RYR1 | c.5342G>C (p.Cys1781Ser) c.5339G>C (p.Cys1780Ser) n.5425G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485997G= | CA2335046357 | RYR1 | c.5342G= (p.Cys1781=) c.5339G= (p.Cys1780=) n.5425G= | |
19 | g.38485997G>T | CA405654762 | RYR1 | c.5342G>T (p.Cys1781Phe) c.5339G>T (p.Cys1780Phe) n.5425G>T |