Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38572118G>A | CA405680560 | RYR1 | c.782G>A c.2179G>A c.2151G>A c.13846G>A (p.Ala4616Thr) c.13831G>A (p.Ala4611Thr) c.13828G>A (p.Ala4610Thr) c.306G>A c.13813G>A (p.Ala4605Thr) c.13843G>A (p.Ala4615Thr) c.13759G>A (p.Ala4587Thr) | COSMIC |
19 | g.38572118G>C | CA405680562 | RYR1 | c.782G>C c.2179G>C c.2151G>C c.13846G>C (p.Ala4616Pro) c.13831G>C (p.Ala4611Pro) c.13828G>C (p.Ala4610Pro) c.306G>C c.13813G>C (p.Ala4605Pro) c.13843G>C (p.Ala4615Pro) c.13759G>C (p.Ala4587Pro) | |
19 | g.38572118G= | CA2335088396 | RYR1 | c.782G= c.2179G= c.2151G= c.13846G= (p.Ala4616=) c.13831G= (p.Ala4611=) c.13828G= (p.Ala4610=) c.306G= c.13813G= (p.Ala4605=) c.13843G= (p.Ala4615=) c.13759G= (p.Ala4587=) | |
19 | g.38572118G>T | CA060592 | RYR1 | c.782G>T c.2179G>T c.2151G>T c.13846G>T (p.Ala4616Ser) c.13831G>T (p.Ala4611Ser) c.13828G>T (p.Ala4610Ser) c.306G>T c.13813G>T (p.Ala4605Ser) c.13843G>T (p.Ala4615Ser) c.13759G>T (p.Ala4587Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38572118_38572119del | CA2584910037 | RYR1 | c.782_783del c.2179_2180del c.2151_2152del c.13846_13847del (p.Ala4616ArgfsTer8) c.13831_13832del (p.Ala4611ArgfsTer8) c.13828_13829del (p.Ala4610ArgfsTer8) c.306_307del c.13813_13814del (p.Ala4605ArgfsTer8) c.13843_13844del (p.Ala4615ArgfsTer8) c.13759_13760del (p.Ala4587ArgfsTer8) | gnomAD v4 |
19 | g.38572119C>A | CA060596 | RYR1 | c.783C>A c.2180C>A c.2152C>A c.13847C>A (p.Ala4616Asp) c.13832C>A (p.Ala4611Asp) c.13829C>A (p.Ala4610Asp) c.307C>A c.13814C>A (p.Ala4605Asp) c.13844C>A (p.Ala4615Asp) c.13760C>A (p.Ala4587Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38572119C= | CA2335088397 | RYR1 | c.783C= c.2180C= c.2152C= c.13847C= (p.Ala4616=) c.13832C= (p.Ala4611=) c.13829C= (p.Ala4610=) c.307C= c.13814C= (p.Ala4605=) c.13844C= (p.Ala4615=) c.13760C= (p.Ala4587=) | |
19 | g.38572119C>G | CA060601 | RYR1 | c.783C>G c.2180C>G c.2152C>G c.13847C>G (p.Ala4616Gly) c.13832C>G (p.Ala4611Gly) c.13829C>G (p.Ala4610Gly) c.307C>G c.13814C>G (p.Ala4605Gly) c.13844C>G (p.Ala4615Gly) c.13760C>G (p.Ala4587Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38572119C>T | CA405680568 | RYR1 | c.783C>T c.2180C>T c.2152C>T c.13847C>T (p.Ala4616Val) c.13832C>T (p.Ala4611Val) c.13829C>T (p.Ala4610Val) c.307C>T c.13814C>T (p.Ala4605Val) c.13844C>T (p.Ala4615Val) c.13760C>T (p.Ala4587Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38572120C>A | CA507356027 | RYR1 | c.784C>A c.2181C>A c.2153C>A c.13848C>A (p.Ala4616=) c.13833C>A (p.Ala4611=) c.13830C>A (p.Ala4610=) c.308C>A c.13815C>A (p.Ala4605=) c.13845C>A (p.Ala4615=) c.13761C>A (p.Ala4587=) | |
19 | g.38572120C= | CA2335088398 | RYR1 | c.784C= c.2181C= c.2153C= c.13848C= (p.Ala4616=) c.13833C= (p.Ala4611=) c.13830C= (p.Ala4610=) c.308C= c.13815C= (p.Ala4605=) c.13845C= (p.Ala4615=) c.13761C= (p.Ala4587=) | |
19 | g.38572120C>G | CA507356028 | RYR1 | c.784C>G c.2181C>G c.2153C>G c.13848C>G (p.Ala4616=) c.13833C>G (p.Ala4611=) c.13830C>G (p.Ala4610=) c.308C>G c.13815C>G (p.Ala4605=) c.13845C>G (p.Ala4615=) c.13761C>G (p.Ala4587=) | gnomAD v4 |
19 | g.38572120C>T | CA507356030 | RYR1 | c.784C>T c.2181C>T c.2153C>T c.13848C>T (p.Ala4616=) c.13833C>T (p.Ala4611=) c.13830C>T (p.Ala4610=) c.308C>T c.13815C>T (p.Ala4605=) c.13845C>T (p.Ala4615=) c.13761C>T (p.Ala4587=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.38572121G>A | CA060602 | RYR1 | c.785G>A c.2182G>A c.2154G>A c.13849G>A (p.Gly4617Arg) c.13834G>A (p.Gly4612Arg) c.13831G>A (p.Gly4611Arg) c.309G>A c.13816G>A (p.Gly4606Arg) c.13846G>A (p.Gly4616Arg) c.13762G>A (p.Gly4588Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38572121G>C | CA405680576 | RYR1 | c.785G>C c.2182G>C c.2154G>C c.13849G>C (p.Gly4617Arg) c.13834G>C (p.Gly4612Arg) c.13831G>C (p.Gly4611Arg) c.309G>C c.13816G>C (p.Gly4606Arg) c.13846G>C (p.Gly4616Arg) c.13762G>C (p.Gly4588Arg) | gnomAD v4 |
19 | g.38572121G= | CA2335088399 | RYR1 | c.785G= c.2182G= c.2154G= c.13849G= (p.Gly4617=) c.13834G= (p.Gly4612=) c.13831G= (p.Gly4611=) c.309G= c.13816G= (p.Gly4606=) c.13846G= (p.Gly4616=) c.13762G= (p.Gly4588=) | |
19 | g.38572121G>T | CA081019 | RYR1 | c.785G>T c.2182G>T c.2154G>T c.13849G>T (p.Gly4617Ter) c.13834G>T (p.Gly4612Ter) c.13831G>T (p.Gly4611Ter) c.309G>T c.13816G>T (p.Gly4606Ter) c.13846G>T (p.Gly4616Ter) c.13762G>T (p.Gly4588Ter) | |
19 | g.38572122G>A | CA405680578 | RYR1 | c.786G>A c.2183G>A c.2155G>A c.13850G>A (p.Gly4617Glu) c.13835G>A (p.Gly4612Glu) c.13832G>A (p.Gly4611Glu) c.310G>A c.13817G>A (p.Gly4606Glu) c.13847G>A (p.Gly4616Glu) c.13763G>A (p.Gly4588Glu) | ClinVar |
19 | g.38572122G>C | CA405680582 | RYR1 | c.786G>C c.2183G>C c.2155G>C c.13850G>C (p.Gly4617Ala) c.13835G>C (p.Gly4612Ala) c.13832G>C (p.Gly4611Ala) c.310G>C c.13817G>C (p.Gly4606Ala) c.13847G>C (p.Gly4616Ala) c.13763G>C (p.Gly4588Ala) | |
19 | g.38572122G>T | CA405680590 | RYR1 | c.786G>T c.2183G>T c.2155G>T c.13850G>T (p.Gly4617Val) c.13835G>T (p.Gly4612Val) c.13832G>T (p.Gly4611Val) c.310G>T c.13817G>T (p.Gly4606Val) c.13847G>T (p.Gly4616Val) c.13763G>T (p.Gly4588Val) | |
19 | g.38572123A= | CA2335088400 | RYR1 | c.787A= c.2184A= c.2156A= c.13851A= (p.Gly4617=) c.13836A= (p.Gly4612=) c.13833A= (p.Gly4611=) c.311A= c.13818A= (p.Gly4606=) c.13848A= (p.Gly4616=) c.13764A= (p.Gly4588=) | |
19 | g.38572123A>C | CA507356038 | RYR1 | c.787A>C c.2184A>C c.2156A>C c.13851A>C (p.Gly4617=) c.13836A>C (p.Gly4612=) c.13833A>C (p.Gly4611=) c.311A>C c.13818A>C (p.Gly4606=) c.13848A>C (p.Gly4616=) c.13764A>C (p.Gly4588=) | |
19 | g.38572123A>G | CA024072 | RYR1 | c.787A>G c.2184A>G c.2156A>G c.13851A>G (p.Gly4617=) c.13836A>G (p.Gly4612=) c.13833A>G (p.Gly4611=) c.311A>G c.13818A>G (p.Gly4606=) c.13848A>G (p.Gly4616=) c.13764A>G (p.Gly4588=) | ClinVar dbSNP |
19 | g.38572123A>T | CA507356039 | RYR1 | c.787A>T c.2184A>T c.2156A>T c.13851A>T (p.Gly4617=) c.13836A>T (p.Gly4612=) c.13833A>T (p.Gly4611=) c.311A>T c.13818A>T (p.Gly4606=) c.13848A>T (p.Gly4616=) c.13764A>T (p.Gly4588=) | |
19 | g.38572124G>A | CA081022 | RYR1 | c.788G>A c.2185G>A c.2157G>A c.13852G>A (p.Glu4618Lys) c.13837G>A (p.Glu4613Lys) c.13834G>A (p.Glu4612Lys) c.312G>A c.13819G>A (p.Glu4607Lys) c.13849G>A (p.Glu4617Lys) c.13765G>A (p.Glu4589Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38572124G>C | CA405680596 | RYR1 | c.788G>C c.2185G>C c.2157G>C c.13852G>C (p.Glu4618Gln) c.13837G>C (p.Glu4613Gln) c.13834G>C (p.Glu4612Gln) c.312G>C c.13819G>C (p.Glu4607Gln) c.13849G>C (p.Glu4617Gln) c.13765G>C (p.Glu4589Gln) | |
19 | g.38572124G= | CA2335088401 | RYR1 | c.788G= c.2185G= c.2157G= c.13852G= (p.Glu4618=) c.13837G= (p.Glu4613=) c.13834G= (p.Glu4612=) c.312G= c.13819G= (p.Glu4607=) c.13849G= (p.Glu4617=) c.13765G= (p.Glu4589=) | |
19 | g.38572124G>T | CA405680597 | RYR1 | c.788G>T c.2185G>T c.2157G>T c.13852G>T (p.Glu4618Ter) c.13837G>T (p.Glu4613Ter) c.13834G>T (p.Glu4612Ter) c.312G>T c.13819G>T (p.Glu4607Ter) c.13849G>T (p.Glu4617Ter) c.13765G>T (p.Glu4589Ter) | |
19 | g.38572128_38572130del | CA2584910038 | RYR1 | c.792_794del c.2189_2191del c.2161_2163del c.13856_13858del (p.Glu4619del) c.13841_13843del (p.Glu4614del) c.13838_13840del (p.Glu4613del) c.316_318del c.13823_13825del (p.Glu4608del) c.13853_13855del (p.Glu4618del) c.13769_13771del (p.Glu4590del) | gnomAD v4 |
19 | g.38572125A>C | CA405680598 | RYR1 | c.789A>C c.2186A>C c.2158A>C c.13853A>C (p.Glu4618Ala) c.13838A>C (p.Glu4613Ala) c.13835A>C (p.Glu4612Ala) c.313A>C c.13820A>C (p.Glu4607Ala) c.13850A>C (p.Glu4617Ala) c.13766A>C (p.Glu4589Ala) | |
19 | g.38572125A>G | CA405680600 | RYR1 | c.789A>G c.2186A>G c.2158A>G c.13853A>G (p.Glu4618Gly) c.13838A>G (p.Glu4613Gly) c.13835A>G (p.Glu4612Gly) c.313A>G c.13820A>G (p.Glu4607Gly) c.13850A>G (p.Glu4617Gly) c.13766A>G (p.Glu4589Gly) | |
19 | g.38572125A>T | CA405680601 | RYR1 | c.789A>T c.2186A>T c.2158A>T c.13853A>T (p.Glu4618Val) c.13838A>T (p.Glu4613Val) c.13835A>T (p.Glu4612Val) c.313A>T c.13820A>T (p.Glu4607Val) c.13850A>T (p.Glu4617Val) c.13766A>T (p.Glu4589Val) | |
19 | g.38572126G>A | CA507356046 | RYR1 | c.790G>A c.2187G>A c.2159G>A c.13854G>A (p.Glu4618=) c.13839G>A (p.Glu4613=) c.13836G>A (p.Glu4612=) c.314G>A c.13821G>A (p.Glu4607=) c.13851G>A (p.Glu4617=) c.13767G>A (p.Glu4589=) | |
19 | g.38572126G>C | CA405680603 | RYR1 | c.790G>C c.2187G>C c.2159G>C c.13854G>C (p.Glu4618Asp) c.13839G>C (p.Glu4613Asp) c.13836G>C (p.Glu4612Asp) c.314G>C c.13821G>C (p.Glu4607Asp) c.13851G>C (p.Glu4617Asp) c.13767G>C (p.Glu4589Asp) | |
19 | g.38572126G>T | CA405680604 | RYR1 | c.790G>T c.2187G>T c.2159G>T c.13854G>T (p.Glu4618Asp) c.13839G>T (p.Glu4613Asp) c.13836G>T (p.Glu4612Asp) c.314G>T c.13821G>T (p.Glu4607Asp) c.13851G>T (p.Glu4617Asp) c.13767G>T (p.Glu4589Asp) | |
19 | g.38572127G>A | CA405680617 | RYR1 | c.791G>A c.2188G>A c.2160G>A c.13855G>A (p.Glu4619Lys) c.13840G>A (p.Glu4614Lys) c.13837G>A (p.Glu4613Lys) c.315G>A c.13822G>A (p.Glu4608Lys) c.13852G>A (p.Glu4618Lys) c.13768G>A (p.Glu4590Lys) | |
19 | g.38572127G>C | CA405680609 | RYR1 | c.791G>C c.2188G>C c.2160G>C c.13855G>C (p.Glu4619Gln) c.13840G>C (p.Glu4614Gln) c.13837G>C (p.Glu4613Gln) c.315G>C c.13822G>C (p.Glu4608Gln) c.13852G>C (p.Glu4618Gln) c.13768G>C (p.Glu4590Gln) | |
19 | g.38572127G>T | CA405680606 | RYR1 | c.791G>T c.2188G>T c.2160G>T c.13855G>T (p.Glu4619Ter) c.13840G>T (p.Glu4614Ter) c.13837G>T (p.Glu4613Ter) c.315G>T c.13822G>T (p.Glu4608Ter) c.13852G>T (p.Glu4618Ter) c.13768G>T (p.Glu4590Ter) | |
19 | g.38572128A>C | CA405680626 | RYR1 | c.792A>C c.2189A>C c.2161A>C c.13856A>C (p.Glu4619Ala) c.13841A>C (p.Glu4614Ala) c.13838A>C (p.Glu4613Ala) c.316A>C c.13823A>C (p.Glu4608Ala) c.13853A>C (p.Glu4618Ala) c.13769A>C (p.Glu4590Ala) | |
19 | g.38572128A>G | CA405680627 | RYR1 | c.792A>G c.2189A>G c.2161A>G c.13856A>G (p.Glu4619Gly) c.13841A>G (p.Glu4614Gly) c.13838A>G (p.Glu4613Gly) c.316A>G c.13823A>G (p.Glu4608Gly) c.13853A>G (p.Glu4618Gly) c.13769A>G (p.Glu4590Gly) | |
19 | g.38572128A>T | CA405680628 | RYR1 | c.792A>T c.2189A>T c.2161A>T c.13856A>T (p.Glu4619Val) c.13841A>T (p.Glu4614Val) c.13838A>T (p.Glu4613Val) c.316A>T c.13823A>T (p.Glu4608Val) c.13853A>T (p.Glu4618Val) c.13769A>T (p.Glu4590Val) | |
19 | g.38572129G>A | CA507356053 | RYR1 | c.793G>A c.2190G>A c.2162G>A c.13857G>A (p.Glu4619=) c.13842G>A (p.Glu4614=) c.13839G>A (p.Glu4613=) c.317G>A c.13824G>A (p.Glu4608=) c.13854G>A (p.Glu4618=) c.13770G>A (p.Glu4590=) | dbSNP |
19 | g.38572129G>C | CA405680629 | RYR1 | c.793G>C c.2190G>C c.2162G>C c.13857G>C (p.Glu4619Asp) c.13842G>C (p.Glu4614Asp) c.13839G>C (p.Glu4613Asp) c.317G>C c.13824G>C (p.Glu4608Asp) c.13854G>C (p.Glu4618Asp) c.13770G>C (p.Glu4590Asp) | |
19 | g.38572129G= | CA2335088402 | RYR1 | c.793G= c.2190G= c.2162G= c.13857G= (p.Glu4619=) c.13842G= (p.Glu4614=) c.13839G= (p.Glu4613=) c.317G= c.13824G= (p.Glu4608=) c.13854G= (p.Glu4618=) c.13770G= (p.Glu4590=) | |
19 | g.38572129G>T | CA405680631 | RYR1 | c.793G>T c.2190G>T c.2162G>T c.13857G>T (p.Glu4619Asp) c.13842G>T (p.Glu4614Asp) c.13839G>T (p.Glu4613Asp) c.317G>T c.13824G>T (p.Glu4608Asp) c.13854G>T (p.Glu4618Asp) c.13770G>T (p.Glu4590Asp) | |
19 | g.38572130G>A | CA405680657 | RYR1 | c.794G>A c.2191G>A c.2163G>A c.13858G>A (p.Ala4620Thr) c.13843G>A (p.Ala4615Thr) c.13840G>A (p.Ala4614Thr) c.318G>A c.13825G>A (p.Ala4609Thr) c.13855G>A (p.Ala4619Thr) c.13771G>A (p.Ala4591Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38572130G>C | CA405680635 | RYR1 | c.794G>C c.2191G>C c.2163G>C c.13858G>C (p.Ala4620Pro) c.13843G>C (p.Ala4615Pro) c.13840G>C (p.Ala4614Pro) c.318G>C c.13825G>C (p.Ala4609Pro) c.13855G>C (p.Ala4619Pro) c.13771G>C (p.Ala4591Pro) | |
19 | g.38572130G= | CA2335088403 | RYR1 | c.794G= c.2191G= c.2163G= c.13858G= (p.Ala4620=) c.13843G= (p.Ala4615=) c.13840G= (p.Ala4614=) c.318G= c.13825G= (p.Ala4609=) c.13855G= (p.Ala4619=) c.13771G= (p.Ala4591=) | |
19 | g.38572130G>T | CA405680634 | RYR1 | c.794G>T c.2191G>T c.2163G>T c.13858G>T (p.Ala4620Ser) c.13843G>T (p.Ala4615Ser) c.13840G>T (p.Ala4614Ser) c.318G>T c.13825G>T (p.Ala4609Ser) c.13855G>T (p.Ala4619Ser) c.13771G>T (p.Ala4591Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38572131C>A | CA405680664 | RYR1 | c.795C>A c.2192C>A c.2164C>A c.13859C>A (p.Ala4620Glu) c.13844C>A (p.Ala4615Glu) c.13841C>A (p.Ala4614Glu) c.319C>A c.13826C>A (p.Ala4609Glu) c.13856C>A (p.Ala4619Glu) c.13772C>A (p.Ala4591Glu) | |
19 | g.38572131C= | CA2335088404 | RYR1 | c.795C= c.2192C= c.2164C= c.13859C= (p.Ala4620=) c.13844C= (p.Ala4615=) c.13841C= (p.Ala4614=) c.319C= c.13826C= (p.Ala4609=) c.13856C= (p.Ala4619=) c.13772C= (p.Ala4591=) | |
19 | g.38572131C>G | CA405680665 | RYR1 | c.795C>G c.2192C>G c.2164C>G c.13859C>G (p.Ala4620Gly) c.13844C>G (p.Ala4615Gly) c.13841C>G (p.Ala4614Gly) c.319C>G c.13826C>G (p.Ala4609Gly) c.13856C>G (p.Ala4619Gly) c.13772C>G (p.Ala4591Gly) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38572131C>T | CA405680666 | RYR1 | c.795C>T c.2192C>T c.2164C>T c.13859C>T (p.Ala4620Val) c.13844C>T (p.Ala4615Val) c.13841C>T (p.Ala4614Val) c.319C>T c.13826C>T (p.Ala4609Val) c.13856C>T (p.Ala4619Val) c.13772C>T (p.Ala4591Val) | dbSNP |
19 | g.38572131_38572134dup | CA2584910039 | RYR1 | c.795_798dup c.2192_2195dup c.2164_2167dup c.13859_13862dup (p.Glu4621AspfsTer5) c.13844_13847dup (p.Glu4616AspfsTer5) c.13841_13844dup (p.Glu4615AspfsTer5) c.319_322dup c.13826_13829dup (p.Glu4610AspfsTer5) c.13856_13859dup (p.Glu4620AspfsTer5) c.13772_13775dup (p.Glu4592AspfsTer5) | gnomAD v4 |
19 | g.38572132A>C | CA507356057 | RYR1 | c.796A>C c.2193A>C c.2165A>C c.13860A>C (p.Ala4620=) c.13845A>C (p.Ala4615=) c.13842A>C (p.Ala4614=) c.320A>C c.13827A>C (p.Ala4609=) c.13857A>C (p.Ala4619=) c.13773A>C (p.Ala4591=) | |
19 | g.38572132A>G | CA507356059 | RYR1 | c.796A>G c.2193A>G c.2165A>G c.13860A>G (p.Ala4620=) c.13845A>G (p.Ala4615=) c.13842A>G (p.Ala4614=) c.320A>G c.13827A>G (p.Ala4609=) c.13857A>G (p.Ala4619=) c.13773A>G (p.Ala4591=) | |
19 | g.38572132A>T | CA507356060 | RYR1 | c.796A>T c.2193A>T c.2165A>T c.13860A>T (p.Ala4620=) c.13845A>T (p.Ala4615=) c.13842A>T (p.Ala4614=) c.320A>T c.13827A>T (p.Ala4609=) c.13857A>T (p.Ala4619=) c.13773A>T (p.Ala4591=) | COSMIC |
19 | g.38572133G>A | CA405680675 | RYR1 | c.797G>A c.2194G>A c.2166G>A c.13861G>A (p.Glu4621Lys) c.13846G>A (p.Glu4616Lys) c.13843G>A (p.Glu4615Lys) c.321G>A c.13828G>A (p.Glu4610Lys) c.13858G>A (p.Glu4620Lys) c.13774G>A (p.Glu4592Lys) | gnomAD v4 |
19 | g.38572133G>C | CA405680677 | RYR1 | c.797G>C c.2194G>C c.2166G>C c.13861G>C (p.Glu4621Gln) c.13846G>C (p.Glu4616Gln) c.13843G>C (p.Glu4615Gln) c.321G>C c.13828G>C (p.Glu4610Gln) c.13858G>C (p.Glu4620Gln) c.13774G>C (p.Glu4592Gln) | |
19 | g.38572133G>T | CA405680688 | RYR1 | c.797G>T c.2194G>T c.2166G>T c.13861G>T (p.Glu4621Ter) c.13846G>T (p.Glu4616Ter) c.13843G>T (p.Glu4615Ter) c.321G>T c.13828G>T (p.Glu4610Ter) c.13858G>T (p.Glu4620Ter) c.13774G>T (p.Glu4592Ter) | |
19 | g.38572134A>C | CA405680696 | RYR1 | c.798A>C c.2195A>C c.2167A>C c.13862A>C (p.Glu4621Ala) c.13847A>C (p.Glu4616Ala) c.13844A>C (p.Glu4615Ala) c.322A>C c.13829A>C (p.Glu4610Ala) c.13859A>C (p.Glu4620Ala) c.13775A>C (p.Glu4592Ala) | |
19 | g.38572134A>G | CA405680691 | RYR1 | c.798A>G c.2195A>G c.2167A>G c.13862A>G (p.Glu4621Gly) c.13847A>G (p.Glu4616Gly) c.13844A>G (p.Glu4615Gly) c.322A>G c.13829A>G (p.Glu4610Gly) c.13859A>G (p.Glu4620Gly) c.13775A>G (p.Glu4592Gly) | |
19 | g.38572134A>T | CA405680694 | RYR1 | c.798A>T c.2195A>T c.2167A>T c.13862A>T (p.Glu4621Val) c.13847A>T (p.Glu4616Val) c.13844A>T (p.Glu4615Val) c.322A>T c.13829A>T (p.Glu4610Val) c.13859A>T (p.Glu4620Val) c.13775A>T (p.Glu4592Val) | |
19 | g.38572135G>A | CA060605 | RYR1 | c.799G>A c.2196G>A c.2168G>A c.13863G>A (p.Glu4621=) c.13848G>A (p.Glu4616=) c.13845G>A (p.Glu4615=) c.323G>A c.13830G>A (p.Glu4610=) c.13860G>A (p.Glu4620=) c.13776G>A (p.Glu4592=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38572135G>C | CA405680706 | RYR1 | c.799G>C c.2196G>C c.2168G>C c.13863G>C (p.Glu4621Asp) c.13848G>C (p.Glu4616Asp) c.13845G>C (p.Glu4615Asp) c.323G>C c.13830G>C (p.Glu4610Asp) c.13860G>C (p.Glu4620Asp) c.13776G>C (p.Glu4592Asp) | |
19 | g.38572135G= | CA2335088405 | RYR1 | c.799G= c.2196G= c.2168G= c.13863G= (p.Glu4621=) c.13848G= (p.Glu4616=) c.13845G= (p.Glu4615=) c.323G= c.13830G= (p.Glu4610=) c.13860G= (p.Glu4620=) c.13776G= (p.Glu4592=) | |
19 | g.38572135G>T | CA405680707 | RYR1 | c.799G>T c.2196G>T c.2168G>T c.13863G>T (p.Glu4621Asp) c.13848G>T (p.Glu4616Asp) c.13845G>T (p.Glu4615Asp) c.323G>T c.13830G>T (p.Glu4610Asp) c.13860G>T (p.Glu4620Asp) c.13776G>T (p.Glu4592Asp) | |
19 | g.38572136G>A | CA405680712 | RYR1 | c.800G>A c.2197G>A c.2169G>A c.13864G>A (p.Gly4622Ser) c.13849G>A (p.Gly4617Ser) c.13846G>A (p.Gly4616Ser) c.324G>A c.13831G>A (p.Gly4611Ser) c.13861G>A (p.Gly4621Ser) c.13777G>A (p.Gly4593Ser) | ClinVar gnomAD v4 |
19 | g.38572136G>C | CA405680721 | RYR1 | c.800G>C c.2197G>C c.2169G>C c.13864G>C (p.Gly4622Arg) c.13849G>C (p.Gly4617Arg) c.13846G>C (p.Gly4616Arg) c.324G>C c.13831G>C (p.Gly4611Arg) c.13861G>C (p.Gly4621Arg) c.13777G>C (p.Gly4593Arg) | |
19 | g.38572136G>T | CA405680724 | RYR1 | c.800G>T c.2197G>T c.2169G>T c.13864G>T (p.Gly4622Cys) c.13849G>T (p.Gly4617Cys) c.13846G>T (p.Gly4616Cys) c.324G>T c.13831G>T (p.Gly4611Cys) c.13861G>T (p.Gly4621Cys) c.13777G>T (p.Gly4593Cys) | |
19 | g.38572137G>A | CA405680725 | RYR1 | c.801G>A c.2198G>A c.2170G>A c.13865G>A (p.Gly4622Asp) c.13850G>A (p.Gly4617Asp) c.13847G>A (p.Gly4616Asp) c.325G>A c.13832G>A (p.Gly4611Asp) c.13862G>A (p.Gly4621Asp) c.13778G>A (p.Gly4593Asp) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38572137G>C | CA060615 | RYR1 | c.801G>C c.2198G>C c.2170G>C c.13865G>C (p.Gly4622Ala) c.13850G>C (p.Gly4617Ala) c.13847G>C (p.Gly4616Ala) c.325G>C c.13832G>C (p.Gly4611Ala) c.13862G>C (p.Gly4621Ala) c.13778G>C (p.Gly4593Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38572137G= | CA2335088406 | RYR1 | c.801G= c.2198G= c.2170G= c.13865G= (p.Gly4622=) c.13850G= (p.Gly4617=) c.13847G= (p.Gly4616=) c.325G= c.13832G= (p.Gly4611=) c.13862G= (p.Gly4621=) c.13778G= (p.Gly4593=) | |
19 | g.38572137G>T | CA405680726 | RYR1 | c.801G>T c.2198G>T c.2170G>T c.13865G>T (p.Gly4622Val) c.13850G>T (p.Gly4617Val) c.13847G>T (p.Gly4616Val) c.325G>T c.13832G>T (p.Gly4611Val) c.13862G>T (p.Gly4621Val) c.13778G>T (p.Gly4593Val) | |
19 | g.38572138C>A | CA507356072 | RYR1 | c.802C>A c.2199C>A c.2171C>A c.13866C>A (p.Gly4622=) c.13851C>A (p.Gly4617=) c.13848C>A (p.Gly4616=) c.326C>A c.13833C>A (p.Gly4611=) c.13863C>A (p.Gly4621=) c.13779C>A (p.Gly4593=) | |
19 | g.38572138C= | CA2335088407 | RYR1 | c.802C= c.2199C= c.2171C= c.13866C= (p.Gly4622=) c.13851C= (p.Gly4617=) c.13848C= (p.Gly4616=) c.326C= c.13833C= (p.Gly4611=) c.13863C= (p.Gly4621=) c.13779C= (p.Gly4593=) | |
19 | g.38572138C>G | CA507356073 | RYR1 | c.802C>G c.2199C>G c.2171C>G c.13866C>G (p.Gly4622=) c.13851C>G (p.Gly4617=) c.13848C>G (p.Gly4616=) c.326C>G c.13833C>G (p.Gly4611=) c.13863C>G (p.Gly4621=) c.13779C>G (p.Gly4593=) | |
19 | g.38572138C>T | CA060620 | RYR1 | c.802C>T c.2199C>T c.2171C>T c.13866C>T (p.Gly4622=) c.13851C>T (p.Gly4617=) c.13848C>T (p.Gly4616=) c.326C>T c.13833C>T (p.Gly4611=) c.13863C>T (p.Gly4621=) c.13779C>T (p.Gly4593=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38572139G>A | CA060622 | RYR1 | c.803G>A c.2200G>A c.2172G>A c.13867G>A (p.Asp4623Asn) c.13852G>A (p.Asp4618Asn) c.13849G>A (p.Asp4617Asn) c.327G>A c.13834G>A (p.Asp4612Asn) c.13864G>A (p.Asp4622Asn) c.13780G>A (p.Asp4594Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38572139G>C | CA405680727 | RYR1 | c.803G>C c.2200G>C c.2172G>C c.13867G>C (p.Asp4623His) c.13852G>C (p.Asp4618His) c.13849G>C (p.Asp4617His) c.327G>C c.13834G>C (p.Asp4612His) c.13864G>C (p.Asp4622His) c.13780G>C (p.Asp4594His) | |
19 | g.38572139G= | CA2335088408 | RYR1 | c.803G= c.2200G= c.2172G= c.13867G= (p.Asp4623=) c.13852G= (p.Asp4618=) c.13849G= (p.Asp4617=) c.327G= c.13834G= (p.Asp4612=) c.13864G= (p.Asp4622=) c.13780G= (p.Asp4594=) | |
19 | g.38572139G>T | CA405680728 | RYR1 | c.803G>T c.2200G>T c.2172G>T c.13867G>T (p.Asp4623Tyr) c.13852G>T (p.Asp4618Tyr) c.13849G>T (p.Asp4617Tyr) c.327G>T c.13834G>T (p.Asp4612Tyr) c.13864G>T (p.Asp4622Tyr) c.13780G>T (p.Asp4594Tyr) | |
19 | g.38572140A>C | CA405680737 | RYR1 | c.804A>C c.2201A>C c.2173A>C c.13868A>C (p.Asp4623Ala) c.13853A>C (p.Asp4618Ala) c.13850A>C (p.Asp4617Ala) c.328A>C c.13835A>C (p.Asp4612Ala) c.13865A>C (p.Asp4622Ala) c.13781A>C (p.Asp4594Ala) | |
19 | g.38572140A>G | CA405680731 | RYR1 | c.804A>G c.2201A>G c.2173A>G c.13868A>G (p.Asp4623Gly) c.13853A>G (p.Asp4618Gly) c.13850A>G (p.Asp4617Gly) c.328A>G c.13835A>G (p.Asp4612Gly) c.13865A>G (p.Asp4622Gly) c.13781A>G (p.Asp4594Gly) | |
19 | g.38572140A>T | CA405680734 | RYR1 | c.804A>T c.2201A>T c.2173A>T c.13868A>T (p.Asp4623Val) c.13853A>T (p.Asp4618Val) c.13850A>T (p.Asp4617Val) c.328A>T c.13835A>T (p.Asp4612Val) c.13865A>T (p.Asp4622Val) c.13781A>T (p.Asp4594Val) | |
19 | g.38572141T>A | CA405680738 | RYR1 | c.805T>A c.2202T>A c.2174T>A c.13869T>A (p.Asp4623Glu) c.13854T>A (p.Asp4618Glu) c.13851T>A (p.Asp4617Glu) c.329T>A c.13836T>A (p.Asp4612Glu) c.13866T>A (p.Asp4622Glu) c.13782T>A (p.Asp4594Glu) | |
19 | g.38572141T>C | CA507356083 | RYR1 | c.805T>C c.2202T>C c.2174T>C c.13869T>C (p.Asp4623=) c.13854T>C (p.Asp4618=) c.13851T>C (p.Asp4617=) c.329T>C c.13836T>C (p.Asp4612=) c.13866T>C (p.Asp4622=) c.13782T>C (p.Asp4594=) | |
19 | g.38572141T>G | CA405680739 | RYR1 | c.805T>G c.2202T>G c.2174T>G c.13869T>G (p.Asp4623Glu) c.13854T>G (p.Asp4618Glu) c.13851T>G (p.Asp4617Glu) c.329T>G c.13836T>G (p.Asp4612Glu) c.13866T>G (p.Asp4622Glu) c.13782T>G (p.Asp4594Glu) | |
19 | g.38572142G>A | CA081026 | RYR1 | c.806G>A c.2203G>A c.2175G>A c.13870G>A (p.Glu4624Lys) c.13855G>A (p.Glu4619Lys) c.13852G>A (p.Glu4618Lys) c.330G>A c.13837G>A (p.Glu4613Lys) c.13867G>A (p.Glu4623Lys) c.13783G>A (p.Glu4595Lys) | |
19 | g.38572142G>C | CA405680740 | RYR1 | c.806G>C c.2203G>C c.2175G>C c.13870G>C (p.Glu4624Gln) c.13855G>C (p.Glu4619Gln) c.13852G>C (p.Glu4618Gln) c.330G>C c.13837G>C (p.Glu4613Gln) c.13867G>C (p.Glu4623Gln) c.13783G>C (p.Glu4595Gln) | |
19 | g.38572142G>T | CA405680742 | RYR1 | c.806G>T c.2203G>T c.2175G>T c.13870G>T (p.Glu4624Ter) c.13855G>T (p.Glu4619Ter) c.13852G>T (p.Glu4618Ter) c.330G>T c.13837G>T (p.Glu4613Ter) c.13867G>T (p.Glu4623Ter) c.13783G>T (p.Glu4595Ter) | |
19 | g.38572143A>C | CA405680743 | RYR1 | c.807A>C c.2204A>C c.2176A>C c.13871A>C (p.Glu4624Ala) c.13856A>C (p.Glu4619Ala) c.13853A>C (p.Glu4618Ala) c.331A>C c.13838A>C (p.Glu4613Ala) c.13868A>C (p.Glu4623Ala) c.13784A>C (p.Glu4595Ala) | |
19 | g.38572143A>G | CA405680746 | RYR1 | c.807A>G c.2204A>G c.2176A>G c.13871A>G (p.Glu4624Gly) c.13856A>G (p.Glu4619Gly) c.13853A>G (p.Glu4618Gly) c.331A>G c.13838A>G (p.Glu4613Gly) c.13868A>G (p.Glu4623Gly) c.13784A>G (p.Glu4595Gly) | |
19 | g.38572143A>T | CA405680750 | RYR1 | c.807A>T c.2204A>T c.2176A>T c.13871A>T (p.Glu4624Val) c.13856A>T (p.Glu4619Val) c.13853A>T (p.Glu4618Val) c.331A>T c.13838A>T (p.Glu4613Val) c.13868A>T (p.Glu4623Val) c.13784A>T (p.Glu4595Val) | |
19 | g.38572144G>A | CA507356092 | RYR1 | c.808G>A c.2205G>A c.2177G>A c.13872G>A (p.Glu4624=) c.13857G>A (p.Glu4619=) c.13854G>A (p.Glu4618=) c.332G>A c.13839G>A (p.Glu4613=) c.13869G>A (p.Glu4623=) c.13785G>A (p.Glu4595=) | |
19 | g.38572144G>C | CA308114091 | RYR1 | c.808G>C c.2205G>C c.2177G>C c.13872G>C (p.Glu4624Asp) c.13857G>C (p.Glu4619Asp) c.13854G>C (p.Glu4618Asp) c.332G>C c.13839G>C (p.Glu4613Asp) c.13869G>C (p.Glu4623Asp) c.13785G>C (p.Glu4595Asp) | dbSNP |
19 | g.38572144G= | CA2335088409 | RYR1 | c.808G= c.2205G= c.2177G= c.13872G= (p.Glu4624=) c.13857G= (p.Glu4619=) c.13854G= (p.Glu4618=) c.332G= c.13839G= (p.Glu4613=) c.13869G= (p.Glu4623=) c.13785G= (p.Glu4595=) | |
19 | g.38572144G>T | CA405680753 | RYR1 | c.808G>T c.2205G>T c.2177G>T c.13872G>T (p.Glu4624Asp) c.13857G>T (p.Glu4619Asp) c.13854G>T (p.Glu4618Asp) c.332G>T c.13839G>T (p.Glu4613Asp) c.13869G>T (p.Glu4623Asp) c.13785G>T (p.Glu4595Asp) | |
19 | g.38572145G>A | CA405680758 | RYR1 | c.809G>A c.2206G>A c.2178G>A c.13873G>A (p.Asp4625Asn) c.13858G>A (p.Asp4620Asn) c.13855G>A (p.Asp4619Asn) c.333G>A c.13840G>A (p.Asp4614Asn) c.13870G>A (p.Asp4624Asn) c.13786G>A (p.Asp4596Asn) | |
19 | g.38572145G>C | CA405680759 | RYR1 | c.809G>C c.2206G>C c.2178G>C c.13873G>C (p.Asp4625His) c.13858G>C (p.Asp4620His) c.13855G>C (p.Asp4619His) c.333G>C c.13840G>C (p.Asp4614His) c.13870G>C (p.Asp4624His) c.13786G>C (p.Asp4596His) | |
19 | g.38572145G>T | CA405680760 | RYR1 | c.809G>T c.2206G>T c.2178G>T c.13873G>T (p.Asp4625Tyr) c.13858G>T (p.Asp4620Tyr) c.13855G>T (p.Asp4619Tyr) c.333G>T c.13840G>T (p.Asp4614Tyr) c.13870G>T (p.Asp4624Tyr) c.13786G>T (p.Asp4596Tyr) | gnomAD v4 |
19 | g.38572146A= | CA2335088410 | RYR1 | c.810A= c.2207A= c.2179A= c.13874A= (p.Asp4625=) c.13859A= (p.Asp4620=) c.13856A= (p.Asp4619=) c.334A= c.13841A= (p.Asp4614=) c.13871A= (p.Asp4624=) c.13787A= (p.Asp4596=) | |
19 | g.38572146A>C | CA405680765 | RYR1 | c.810A>C c.2207A>C c.2179A>C c.13874A>C (p.Asp4625Ala) c.13859A>C (p.Asp4620Ala) c.13856A>C (p.Asp4619Ala) c.334A>C c.13841A>C (p.Asp4614Ala) c.13871A>C (p.Asp4624Ala) c.13787A>C (p.Asp4596Ala) | |
19 | g.38572146A>G | CA060624 | RYR1 | c.810A>G c.2207A>G c.2179A>G c.13874A>G (p.Asp4625Gly) c.13859A>G (p.Asp4620Gly) c.13856A>G (p.Asp4619Gly) c.334A>G c.13841A>G (p.Asp4614Gly) c.13871A>G (p.Asp4624Gly) c.13787A>G (p.Asp4596Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38572146A>T | CA405680762 | RYR1 | c.810A>T c.2207A>T c.2179A>T c.13874A>T (p.Asp4625Val) c.13859A>T (p.Asp4620Val) c.13856A>T (p.Asp4619Val) c.334A>T c.13841A>T (p.Asp4614Val) c.13871A>T (p.Asp4624Val) c.13787A>T (p.Asp4596Val) | |
19 | g.38572147T>A | CA405680767 | RYR1 | c.811T>A c.2208T>A c.2180T>A c.13875T>A (p.Asp4625Glu) c.13860T>A (p.Asp4620Glu) c.13857T>A (p.Asp4619Glu) c.335T>A c.13842T>A (p.Asp4614Glu) c.13872T>A (p.Asp4624Glu) c.13788T>A (p.Asp4596Glu) | |
19 | g.38572147T>C | CA507356099 | RYR1 | c.811T>C c.2208T>C c.2180T>C c.13875T>C (p.Asp4625=) c.13860T>C (p.Asp4620=) c.13857T>C (p.Asp4619=) c.335T>C c.13842T>C (p.Asp4614=) c.13872T>C (p.Asp4624=) c.13788T>C (p.Asp4596=) | |
19 | g.38572147T>G | CA405680770 | RYR1 | c.811T>G c.2208T>G c.2180T>G c.13875T>G (p.Asp4625Glu) c.13860T>G (p.Asp4620Glu) c.13857T>G (p.Asp4619Glu) c.335T>G c.13842T>G (p.Asp4614Glu) c.13872T>G (p.Asp4624Glu) c.13788T>G (p.Asp4596Glu) | |
19 | g.38572148G>A | CA405680772 | RYR1 | c.812G>A c.2209G>A c.2181G>A c.13876G>A (p.Glu4626Lys) c.13861G>A (p.Glu4621Lys) c.13858G>A (p.Glu4620Lys) c.336G>A c.13843G>A (p.Glu4615Lys) c.13873G>A (p.Glu4625Lys) c.13789G>A (p.Glu4597Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.38572148G>C | CA405680774 | RYR1 | c.812G>C c.2209G>C c.2181G>C c.13876G>C (p.Glu4626Gln) c.13861G>C (p.Glu4621Gln) c.13858G>C (p.Glu4620Gln) c.336G>C c.13843G>C (p.Glu4615Gln) c.13873G>C (p.Glu4625Gln) c.13789G>C (p.Glu4597Gln) | |
19 | g.38572148G= | CA2335088411 | RYR1 | c.812G= c.2209G= c.2181G= c.13876G= (p.Glu4626=) c.13861G= (p.Glu4621=) c.13858G= (p.Glu4620=) c.336G= c.13843G= (p.Glu4615=) c.13873G= (p.Glu4625=) c.13789G= (p.Glu4597=) | |
19 | g.38572148G>T | CA405680776 | RYR1 | c.812G>T c.2209G>T c.2181G>T c.13876G>T (p.Glu4626Ter) c.13861G>T (p.Glu4621Ter) c.13858G>T (p.Glu4620Ter) c.336G>T c.13843G>T (p.Glu4615Ter) c.13873G>T (p.Glu4625Ter) c.13789G>T (p.Glu4597Ter) | |
19 | g.38572149A>C | CA405680779 | RYR1 | c.813A>C c.2210A>C c.2182A>C c.13877A>C (p.Glu4626Ala) c.13862A>C (p.Glu4621Ala) c.13859A>C (p.Glu4620Ala) c.337A>C c.13844A>C (p.Glu4615Ala) c.13874A>C (p.Glu4625Ala) c.13790A>C (p.Glu4597Ala) | |
19 | g.38572149A>G | CA081027 | RYR1 | c.813A>G c.2210A>G c.2182A>G c.13877A>G (p.Glu4626Gly) c.13862A>G (p.Glu4621Gly) c.13859A>G (p.Glu4620Gly) c.337A>G c.13844A>G (p.Glu4615Gly) c.13874A>G (p.Glu4625Gly) c.13790A>G (p.Glu4597Gly) | |
19 | g.38572149A>T | CA405680780 | RYR1 | c.813A>T c.2210A>T c.2182A>T c.13877A>T (p.Glu4626Val) c.13862A>T (p.Glu4621Val) c.13859A>T (p.Glu4620Val) c.337A>T c.13844A>T (p.Glu4615Val) c.13874A>T (p.Glu4625Val) c.13790A>T (p.Glu4597Val) | |
19 | g.38572150G>A | CA507356103 | RYR1 | c.814G>A c.2211G>A c.2183G>A c.13878G>A (p.Glu4626=) c.13863G>A (p.Glu4621=) c.13860G>A (p.Glu4620=) c.338G>A c.13845G>A (p.Glu4615=) c.13875G>A (p.Glu4625=) c.13791G>A (p.Glu4597=) | gnomAD v4 |
19 | g.38572150G>C | CA405680783 | RYR1 | c.814G>C c.2211G>C c.2183G>C c.13878G>C (p.Glu4626Asp) c.13863G>C (p.Glu4621Asp) c.13860G>C (p.Glu4620Asp) c.338G>C c.13845G>C (p.Glu4615Asp) c.13875G>C (p.Glu4625Asp) c.13791G>C (p.Glu4597Asp) | gnomAD v4 |
19 | g.38572150G>T | CA405680784 | RYR1 | c.814G>T c.2211G>T c.2183G>T c.13878G>T (p.Glu4626Asp) c.13863G>T (p.Glu4621Asp) c.13860G>T (p.Glu4620Asp) c.338G>T c.13845G>T (p.Glu4615Asp) c.13875G>T (p.Glu4625Asp) c.13791G>T (p.Glu4597Asp) | |
19 | g.38572151A>C | CA405680786 | RYR1 | c.815A>C c.2212A>C c.2184A>C c.13879A>C (p.Asn4627His) c.13864A>C (p.Asn4622His) c.13861A>C (p.Asn4621His) c.339A>C c.13846A>C (p.Asn4616His) c.13876A>C (p.Asn4626His) c.13792A>C (p.Asn4598His) | gnomAD v4 |
19 | g.38572151A>G | CA405680788 | RYR1 | c.815A>G c.2212A>G c.2184A>G c.13879A>G (p.Asn4627Asp) c.13864A>G (p.Asn4622Asp) c.13861A>G (p.Asn4621Asp) c.339A>G c.13846A>G (p.Asn4616Asp) c.13876A>G (p.Asn4626Asp) c.13792A>G (p.Asn4598Asp) | |
19 | g.38572151A>T | CA405680790 | RYR1 | c.815A>T c.2212A>T c.2184A>T c.13879A>T (p.Asn4627Tyr) c.13864A>T (p.Asn4622Tyr) c.13861A>T (p.Asn4621Tyr) c.339A>T c.13846A>T (p.Asn4616Tyr) c.13876A>T (p.Asn4626Tyr) c.13792A>T (p.Asn4598Tyr) | |
19 | g.38572152A= | CA2335088412 | RYR1 | c.816A= c.2213A= c.2185A= c.13880A= (p.Asn4627=) c.13865A= (p.Asn4622=) c.13862A= (p.Asn4621=) c.340A= c.13847A= (p.Asn4616=) c.13877A= (p.Asn4626=) c.13793A= (p.Asn4598=) | |
19 | g.38572152A>C | CA405680793 | RYR1 | c.816A>C c.2213A>C c.2185A>C c.13880A>C (p.Asn4627Thr) c.13865A>C (p.Asn4622Thr) c.13862A>C (p.Asn4621Thr) c.340A>C c.13847A>C (p.Asn4616Thr) c.13877A>C (p.Asn4626Thr) c.13793A>C (p.Asn4598Thr) | |
19 | g.38572152A>G | CA405680794 | RYR1 | c.816A>G c.2213A>G c.2185A>G c.13880A>G (p.Asn4627Ser) c.13865A>G (p.Asn4622Ser) c.13862A>G (p.Asn4621Ser) c.340A>G c.13847A>G (p.Asn4616Ser) c.13877A>G (p.Asn4626Ser) c.13793A>G (p.Asn4598Ser) | gnomAD v4 |
19 | g.38572152A>T | CA405680792 | RYR1 | c.816A>T c.2213A>T c.2185A>T c.13880A>T (p.Asn4627Ile) c.13865A>T (p.Asn4622Ile) c.13862A>T (p.Asn4621Ile) c.340A>T c.13847A>T (p.Asn4616Ile) c.13877A>T (p.Asn4626Ile) c.13793A>T (p.Asn4598Ile) | |
19 | g.38572153C>A | CA405680796 | RYR1 | c.817C>A c.2214C>A c.2186C>A c.13881C>A (p.Asn4627Lys) c.13866C>A (p.Asn4622Lys) c.13863C>A (p.Asn4621Lys) c.341C>A c.13848C>A (p.Asn4616Lys) c.13878C>A (p.Asn4626Lys) c.13794C>A (p.Asn4598Lys) | |
19 | g.38572153C= | CA2335088413 | RYR1 | c.817C= c.2214C= c.2186C= c.13881C= (p.Asn4627=) c.13866C= (p.Asn4622=) c.13863C= (p.Asn4621=) c.341C= c.13848C= (p.Asn4616=) c.13878C= (p.Asn4626=) c.13794C= (p.Asn4598=) | |
19 | g.38572153C>G | CA405680804 | RYR1 | c.817C>G c.2214C>G c.2186C>G c.13881C>G (p.Asn4627Lys) c.13866C>G (p.Asn4622Lys) c.13863C>G (p.Asn4621Lys) c.341C>G c.13848C>G (p.Asn4616Lys) c.13878C>G (p.Asn4626Lys) c.13794C>G (p.Asn4598Lys) | |
19 | g.38572153C>T | CA060628 | RYR1 | c.817C>T c.2214C>T c.2186C>T c.13881C>T (p.Asn4627=) c.13866C>T (p.Asn4622=) c.13863C>T (p.Asn4621=) c.341C>T c.13848C>T (p.Asn4616=) c.13878C>T (p.Asn4626=) c.13794C>T (p.Asn4598=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38572154_38572168dup | CA658799220 | RYR1 | c.818_832dup c.2215_2229dup c.2187_2201dup c.13882_13896dup (p.Phe4632_Leu4633insMetValTyrTyrPhe) c.13867_13881dup (p.Phe4627_Leu4628insMetValTyrTyrPhe) c.13864_13878dup (p.Phe4626_Leu4627insMetValTyrTyrPhe) c.342_356dup c.13849_13863dup (p.Phe4621_Leu4622insMetValTyrTyrPhe) c.13879_13893dup (p.Phe4631_Leu4632insMetValTyrTyrPhe) c.13795_13809dup (p.Phe4603_Leu4604insMetValTyrTyrPhe) | ClinVar dbSNP |
19 | g.38572154A>C | CA405680807 | RYR1 | c.818A>C c.2215A>C c.2187A>C c.13882A>C (p.Met4628Leu) c.13867A>C (p.Met4623Leu) c.13864A>C (p.Met4622Leu) c.342A>C c.13849A>C (p.Met4617Leu) c.13879A>C (p.Met4627Leu) c.13795A>C (p.Met4599Leu) | |
19 | g.38572154A>G | CA405680808 | RYR1 | c.818A>G c.2215A>G c.2187A>G c.13882A>G (p.Met4628Val) c.13867A>G (p.Met4623Val) c.13864A>G (p.Met4622Val) c.342A>G c.13849A>G (p.Met4617Val) c.13879A>G (p.Met4627Val) c.13795A>G (p.Met4599Val) | ClinVar dbSNP gnomAD v4 |
19 | g.38572154A>T | CA405680809 | RYR1 | c.818A>T c.2215A>T c.2187A>T c.13882A>T (p.Met4628Leu) c.13867A>T (p.Met4623Leu) c.13864A>T (p.Met4622Leu) c.342A>T c.13849A>T (p.Met4617Leu) c.13879A>T (p.Met4627Leu) c.13795A>T (p.Met4599Leu) | COSMIC |
19 | g.38572155T>A | CA405680810 | RYR1 | c.819T>A c.2216T>A c.2188T>A c.13883T>A (p.Met4628Lys) c.13868T>A (p.Met4623Lys) c.13865T>A (p.Met4622Lys) c.343T>A c.13850T>A (p.Met4617Lys) c.13880T>A (p.Met4627Lys) c.13796T>A (p.Met4599Lys) | |
19 | g.38572155T>C | CA405680811 | RYR1 | c.819T>C c.2216T>C c.2188T>C c.13883T>C (p.Met4628Thr) c.13868T>C (p.Met4623Thr) c.13865T>C (p.Met4622Thr) c.343T>C c.13850T>C (p.Met4617Thr) c.13880T>C (p.Met4627Thr) c.13796T>C (p.Met4599Thr) | |
19 | g.38572155T>G | CA405680812 | RYR1 | c.819T>G c.2216T>G c.2188T>G c.13883T>G (p.Met4628Arg) c.13868T>G (p.Met4623Arg) c.13865T>G (p.Met4622Arg) c.343T>G c.13850T>G (p.Met4617Arg) c.13880T>G (p.Met4627Arg) c.13796T>G (p.Met4599Arg) | |
19 | g.38572156G>A | CA405680815 | RYR1 | c.820G>A c.2217G>A c.2189G>A c.13884G>A (p.Met4628Ile) c.13869G>A (p.Met4623Ile) c.13866G>A (p.Met4622Ile) c.344G>A c.13851G>A (p.Met4617Ile) c.13881G>A (p.Met4627Ile) c.13797G>A (p.Met4599Ile) | dbSNP gnomAD v4 |
19 | g.38572156G>C | CA405680817 | RYR1 | c.820G>C c.2217G>C c.2189G>C c.13884G>C (p.Met4628Ile) c.13869G>C (p.Met4623Ile) c.13866G>C (p.Met4622Ile) c.344G>C c.13851G>C (p.Met4617Ile) c.13881G>C (p.Met4627Ile) c.13797G>C (p.Met4599Ile) | |
19 | g.38572156G= | CA2335088414 | RYR1 | c.820G= c.2217G= c.2189G= c.13884G= (p.Met4628=) c.13869G= (p.Met4623=) c.13866G= (p.Met4622=) c.344G= c.13851G= (p.Met4617=) c.13881G= (p.Met4627=) c.13797G= (p.Met4599=) | |
19 | g.38572156G>T | CA405680819 | RYR1 | c.820G>T c.2217G>T c.2189G>T c.13884G>T (p.Met4628Ile) c.13869G>T (p.Met4623Ile) c.13866G>T (p.Met4622Ile) c.344G>T c.13851G>T (p.Met4617Ile) c.13881G>T (p.Met4627Ile) c.13797G>T (p.Met4599Ile) | dbSNP |
19 | g.38572157G>A | CA060632 | RYR1 | c.821G>A c.2218G>A c.2190G>A c.13885G>A (p.Val4629Met) c.13870G>A (p.Val4624Met) c.13867G>A (p.Val4623Met) c.345G>A c.13852G>A (p.Val4618Met) c.13882G>A (p.Val4628Met) c.13798G>A (p.Val4600Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38572157G>C | CA405680823 | RYR1 | c.821G>C c.2218G>C c.2190G>C c.13885G>C (p.Val4629Leu) c.13870G>C (p.Val4624Leu) c.13867G>C (p.Val4623Leu) c.345G>C c.13852G>C (p.Val4618Leu) c.13882G>C (p.Val4628Leu) c.13798G>C (p.Val4600Leu) | |
19 | g.38572157G= | CA2335088415 | RYR1 | c.821G= c.2218G= c.2190G= c.13885G= (p.Val4629=) c.13870G= (p.Val4624=) c.13867G= (p.Val4623=) c.345G= c.13852G= (p.Val4618=) c.13882G= (p.Val4628=) c.13798G= (p.Val4600=) | |
19 | g.38572157G>T | CA405680825 | RYR1 | c.821G>T c.2218G>T c.2190G>T c.13885G>T (p.Val4629Leu) c.13870G>T (p.Val4624Leu) c.13867G>T (p.Val4623Leu) c.345G>T c.13852G>T (p.Val4618Leu) c.13882G>T (p.Val4628Leu) c.13798G>T (p.Val4600Leu) | |
19 | g.38572158T>A | CA405680829 | RYR1 | c.822T>A c.2219T>A c.2191T>A c.13886T>A (p.Val4629Glu) c.13871T>A (p.Val4624Glu) c.13868T>A (p.Val4623Glu) c.346T>A c.13853T>A (p.Val4618Glu) c.13883T>A (p.Val4628Glu) c.13799T>A (p.Val4600Glu) | |
19 | g.38572158T>C | CA060633 | RYR1 | c.822T>C c.2219T>C c.2191T>C c.13886T>C (p.Val4629Ala) c.13871T>C (p.Val4624Ala) c.13868T>C (p.Val4623Ala) c.346T>C c.13853T>C (p.Val4618Ala) c.13883T>C (p.Val4628Ala) c.13799T>C (p.Val4600Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38572158T>G | CA405680828 | RYR1 | c.822T>G c.2219T>G c.2191T>G c.13886T>G (p.Val4629Gly) c.13871T>G (p.Val4624Gly) c.13868T>G (p.Val4623Gly) c.346T>G c.13853T>G (p.Val4618Gly) c.13883T>G (p.Val4628Gly) c.13799T>G (p.Val4600Gly) | |
19 | g.38572158T= | CA2335088416 | RYR1 | c.822T= c.2219T= c.2191T= c.13886T= (p.Val4629=) c.13871T= (p.Val4624=) c.13868T= (p.Val4623=) c.346T= c.13853T= (p.Val4618=) c.13883T= (p.Val4628=) c.13799T= (p.Val4600=) | |
19 | g.38572159G>A | CA507356116 | RYR1 | c.823G>A c.2220G>A c.2192G>A c.13887G>A (p.Val4629=) c.13872G>A (p.Val4624=) c.13869G>A (p.Val4623=) c.347G>A c.13854G>A (p.Val4618=) c.13884G>A (p.Val4628=) c.13800G>A (p.Val4600=) | ClinVar dbSNP gnomAD v4 |
19 | g.38572159G>C | CA507356117 | RYR1 | c.823G>C c.2220G>C c.2192G>C c.13887G>C (p.Val4629=) c.13872G>C (p.Val4624=) c.13869G>C (p.Val4623=) c.347G>C c.13854G>C (p.Val4618=) c.13884G>C (p.Val4628=) c.13800G>C (p.Val4600=) | |
19 | g.38572159G= | CA2335088417 | RYR1 | c.823G= c.2220G= c.2192G= c.13887G= (p.Val4629=) c.13872G= (p.Val4624=) c.13869G= (p.Val4623=) c.347G= c.13854G= (p.Val4618=) c.13884G= (p.Val4628=) c.13800G= (p.Val4600=) | |
19 | g.38572159G>T | CA507356118 | RYR1 | c.823G>T c.2220G>T c.2192G>T c.13887G>T (p.Val4629=) c.13872G>T (p.Val4624=) c.13869G>T (p.Val4623=) c.347G>T c.13854G>T (p.Val4618=) c.13884G>T (p.Val4628=) c.13800G>T (p.Val4600=) | |
19 | g.38572160T>A | CA405680833 | RYR1 | c.824T>A c.2221T>A c.2193T>A c.13888T>A (p.Tyr4630Asn) c.13873T>A (p.Tyr4625Asn) c.13870T>A (p.Tyr4624Asn) c.348T>A c.13855T>A (p.Tyr4619Asn) c.13885T>A (p.Tyr4629Asn) c.13801T>A (p.Tyr4601Asn) | |
19 | g.38572160T>C | CA405680834 | RYR1 | c.824T>C c.2221T>C c.2193T>C c.13888T>C (p.Tyr4630His) c.13873T>C (p.Tyr4625His) c.13870T>C (p.Tyr4624His) c.348T>C c.13855T>C (p.Tyr4619His) c.13885T>C (p.Tyr4629His) c.13801T>C (p.Tyr4601His) | |
19 | g.38572160T>G | CA405680837 | RYR1 | c.824T>G c.2221T>G c.2193T>G c.13888T>G (p.Tyr4630Asp) c.13873T>G (p.Tyr4625Asp) c.13870T>G (p.Tyr4624Asp) c.348T>G c.13855T>G (p.Tyr4619Asp) c.13885T>G (p.Tyr4629Asp) c.13801T>G (p.Tyr4601Asp) | |
19 | g.38572161A>C | CA405680840 | RYR1 | c.825A>C c.2222A>C c.2194A>C c.13889A>C (p.Tyr4630Ser) c.13874A>C (p.Tyr4625Ser) c.13871A>C (p.Tyr4624Ser) c.349A>C c.13856A>C (p.Tyr4619Ser) c.13886A>C (p.Tyr4629Ser) c.13802A>C (p.Tyr4601Ser) | |
19 | g.38572161A>G | CA405680842 | RYR1 | c.825A>G c.2222A>G c.2194A>G c.13889A>G (p.Tyr4630Cys) c.13874A>G (p.Tyr4625Cys) c.13871A>G (p.Tyr4624Cys) c.349A>G c.13856A>G (p.Tyr4619Cys) c.13886A>G (p.Tyr4629Cys) c.13802A>G (p.Tyr4601Cys) | |
19 | g.38572161A>T | CA405680844 | RYR1 | c.825A>T c.2222A>T c.2194A>T c.13889A>T (p.Tyr4630Phe) c.13874A>T (p.Tyr4625Phe) c.13871A>T (p.Tyr4624Phe) c.349A>T c.13856A>T (p.Tyr4619Phe) c.13886A>T (p.Tyr4629Phe) c.13802A>T (p.Tyr4601Phe) | |
19 | g.38572162C>A | CA405680846 | RYR1 | c.826C>A c.2223C>A c.2195C>A c.13890C>A (p.Tyr4630Ter) c.13875C>A (p.Tyr4625Ter) c.13872C>A (p.Tyr4624Ter) c.350C>A c.13857C>A (p.Tyr4619Ter) c.13887C>A (p.Tyr4629Ter) c.13803C>A (p.Tyr4601Ter) | |
19 | g.38572162C>G | CA405680847 | RYR1 | c.826C>G c.2223C>G c.2195C>G c.13890C>G (p.Tyr4630Ter) c.13875C>G (p.Tyr4625Ter) c.13872C>G (p.Tyr4624Ter) c.350C>G c.13857C>G (p.Tyr4619Ter) c.13887C>G (p.Tyr4629Ter) c.13803C>G (p.Tyr4601Ter) | |
19 | g.38572162C>T | CA507356123 | RYR1 | c.826C>T c.2223C>T c.2195C>T c.13890C>T (p.Tyr4630=) c.13875C>T (p.Tyr4625=) c.13872C>T (p.Tyr4624=) c.350C>T c.13857C>T (p.Tyr4619=) c.13887C>T (p.Tyr4629=) c.13803C>T (p.Tyr4601=) | |
19 | g.38572163T>A | CA024074 | RYR1 | c.827T>A c.2224T>A c.2196T>A c.13891T>A (p.Tyr4631Asn) c.13876T>A (p.Tyr4626Asn) c.13873T>A (p.Tyr4625Asn) c.351T>A c.13858T>A (p.Tyr4620Asn) c.13888T>A (p.Tyr4630Asn) c.13804T>A (p.Tyr4602Asn) | ClinVar dbSNP |
19 | g.38572163T>C | CA405680853 | RYR1 | c.827T>C c.2224T>C c.2196T>C c.13891T>C (p.Tyr4631His) c.13876T>C (p.Tyr4626His) c.13873T>C (p.Tyr4625His) c.351T>C c.13858T>C (p.Tyr4620His) c.13888T>C (p.Tyr4630His) c.13804T>C (p.Tyr4602His) | |
19 | g.38572163T>G | CA405680857 | RYR1 | c.827T>G c.2224T>G c.2196T>G c.13891T>G (p.Tyr4631Asp) c.13876T>G (p.Tyr4626Asp) c.13873T>G (p.Tyr4625Asp) c.351T>G c.13858T>G (p.Tyr4620Asp) c.13888T>G (p.Tyr4630Asp) c.13804T>G (p.Tyr4602Asp) | |
19 | g.38572163T= | CA2335088418 | RYR1 | c.827T= c.2224T= c.2196T= c.13891T= (p.Tyr4631=) c.13876T= (p.Tyr4626=) c.13873T= (p.Tyr4625=) c.351T= c.13858T= (p.Tyr4620=) c.13888T= (p.Tyr4630=) c.13804T= (p.Tyr4602=) | |
19 | g.38572164A= | CA2335088419 | RYR1 | c.828A= c.2225A= c.2197A= c.13892A= (p.Tyr4631=) c.13877A= (p.Tyr4626=) c.13874A= (p.Tyr4625=) c.352A= c.13859A= (p.Tyr4620=) c.13889A= (p.Tyr4630=) c.13805A= (p.Tyr4602=) | |
19 | g.38572164A>C | CA405680876 | RYR1 | c.828A>C c.2225A>C c.2197A>C c.13892A>C (p.Tyr4631Ser) c.13877A>C (p.Tyr4626Ser) c.13874A>C (p.Tyr4625Ser) c.352A>C c.13859A>C (p.Tyr4620Ser) c.13889A>C (p.Tyr4630Ser) c.13805A>C (p.Tyr4602Ser) | ClinVar dbSNP |
19 | g.38572164A>G | CA405680883 | RYR1 | c.828A>G c.2225A>G c.2197A>G c.13892A>G (p.Tyr4631Cys) c.13877A>G (p.Tyr4626Cys) c.13874A>G (p.Tyr4625Cys) c.352A>G c.13859A>G (p.Tyr4620Cys) c.13889A>G (p.Tyr4630Cys) c.13805A>G (p.Tyr4602Cys) | ClinVar dbSNP gnomAD v4 |
19 | g.38572164A>T | CA405680885 | RYR1 | c.828A>T c.2225A>T c.2197A>T c.13892A>T (p.Tyr4631Phe) c.13877A>T (p.Tyr4626Phe) c.13874A>T (p.Tyr4625Phe) c.352A>T c.13859A>T (p.Tyr4620Phe) c.13889A>T (p.Tyr4630Phe) c.13805A>T (p.Tyr4602Phe) | |
19 | g.38572165C>A | CA405680890 | RYR1 | c.829C>A c.2226C>A c.2198C>A c.13893C>A (p.Tyr4631Ter) c.13878C>A (p.Tyr4626Ter) c.13875C>A (p.Tyr4625Ter) c.353C>A c.13860C>A (p.Tyr4620Ter) c.13890C>A (p.Tyr4630Ter) c.13806C>A (p.Tyr4602Ter) | |
19 | g.38572165C= | CA2335088421 | RYR1 | c.829C= c.2226C= c.2198C= c.13893C= (p.Tyr4631=) c.13878C= (p.Tyr4626=) c.13875C= (p.Tyr4625=) c.353C= c.13860C= (p.Tyr4620=) c.13890C= (p.Tyr4630=) c.13806C= (p.Tyr4602=) | |
19 | g.38572165C>G | CA405680893 | RYR1 | c.829C>G c.2226C>G c.2198C>G c.13893C>G (p.Tyr4631Ter) c.13878C>G (p.Tyr4626Ter) c.13875C>G (p.Tyr4625Ter) c.353C>G c.13860C>G (p.Tyr4620Ter) c.13890C>G (p.Tyr4630Ter) c.13806C>G (p.Tyr4602Ter) | ClinVar |
19 | g.38572165C>T | CA507356125 | RYR1 | c.829C>T c.2226C>T c.2198C>T c.13893C>T (p.Tyr4631=) c.13878C>T (p.Tyr4626=) c.13875C>T (p.Tyr4625=) c.353C>T c.13860C>T (p.Tyr4620=) c.13890C>T (p.Tyr4630=) c.13806C>T (p.Tyr4602=) | dbSNP |
19 | g.38572165_38572166delinsCT | CA2335088420 | RYR1 | c.829_830delinsCT c.2226_2227delinsCT c.2198_2199delinsCT c.13893_13894delinsCT (p.Tyr4631=) c.13878_13879delinsCT (p.Tyr4626=) c.13875_13876delinsCT (p.Tyr4625=) c.353_354delinsCT c.13860_13861delinsCT (p.Tyr4620=) c.13890_13891delinsCT (p.Tyr4630=) c.13806_13807delinsCT (p.Tyr4602=) | |
19 | g.38572166T>A | CA405680894 | RYR1 | c.830T>A c.2227T>A c.2199T>A c.13894T>A (p.Phe4632Ile) c.13879T>A (p.Phe4627Ile) c.13876T>A (p.Phe4626Ile) c.354T>A c.13861T>A (p.Phe4621Ile) c.13891T>A (p.Phe4631Ile) c.13807T>A (p.Phe4603Ile) | |
19 | g.38572166T>C | CA405680895 | RYR1 | c.830T>C c.2227T>C c.2199T>C c.13894T>C (p.Phe4632Leu) c.13879T>C (p.Phe4627Leu) c.13876T>C (p.Phe4626Leu) c.354T>C c.13861T>C (p.Phe4621Leu) c.13891T>C (p.Phe4631Leu) c.13807T>C (p.Phe4603Leu) | |
19 | g.38572166T>G | CA405680896 | RYR1 | c.830T>G c.2227T>G c.2199T>G c.13894T>G (p.Phe4632Val) c.13879T>G (p.Phe4627Val) c.13876T>G (p.Phe4626Val) c.354T>G c.13861T>G (p.Phe4621Val) c.13891T>G (p.Phe4631Val) c.13807T>G (p.Phe4603Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38572166T= | CA2335088422 | RYR1 | c.830T= c.2227T= c.2199T= c.13894T= (p.Phe4632=) c.13879T= (p.Phe4627=) c.13876T= (p.Phe4626=) c.354T= c.13861T= (p.Phe4621=) c.13891T= (p.Phe4631=) c.13807T= (p.Phe4603=) | |
19 | g.38572167del | CA916082462 | RYR1 | c.831del c.2228del c.2200del c.13895del (p.Phe4632SerfsTer16) c.13880del (p.Phe4627SerfsTer16) c.13877del (p.Phe4626SerfsTer16) c.355del c.13862del (p.Phe4621SerfsTer16) c.13892del (p.Phe4631SerfsTer16) c.13808del (p.Phe4603SerfsTer16) | ClinVar dbSNP |
19 | g.38572167T>A | CA405680898 | RYR1 | c.831T>A c.2228T>A c.2200T>A c.13895T>A (p.Phe4632Tyr) c.13880T>A (p.Phe4627Tyr) c.13877T>A (p.Phe4626Tyr) c.355T>A c.13862T>A (p.Phe4621Tyr) c.13892T>A (p.Phe4631Tyr) c.13808T>A (p.Phe4603Tyr) | |
19 | g.38572167T>C | CA405680899 | RYR1 | c.831T>C c.2228T>C c.2200T>C c.13895T>C (p.Phe4632Ser) c.13880T>C (p.Phe4627Ser) c.13877T>C (p.Phe4626Ser) c.355T>C c.13862T>C (p.Phe4621Ser) c.13892T>C (p.Phe4631Ser) c.13808T>C (p.Phe4603Ser) | |
19 | g.38572167T>G | CA405680901 | RYR1 | c.831T>G c.2228T>G c.2200T>G c.13895T>G (p.Phe4632Cys) c.13880T>G (p.Phe4627Cys) c.13877T>G (p.Phe4626Cys) c.355T>G c.13862T>G (p.Phe4621Cys) c.13892T>G (p.Phe4631Cys) c.13808T>G (p.Phe4603Cys) | |
19 | g.38572168C>A | CA405680907 | RYR1 | c.832C>A c.2229C>A c.2201C>A c.13896C>A (p.Phe4632Leu) c.13881C>A (p.Phe4627Leu) c.13878C>A (p.Phe4626Leu) c.356C>A c.13863C>A (p.Phe4621Leu) c.13893C>A (p.Phe4631Leu) c.13809C>A (p.Phe4603Leu) | |
19 | g.38572168C>G | CA405680909 | RYR1 | c.832C>G c.2229C>G c.2201C>G c.13896C>G (p.Phe4632Leu) c.13881C>G (p.Phe4627Leu) c.13878C>G (p.Phe4626Leu) c.356C>G c.13863C>G (p.Phe4621Leu) c.13893C>G (p.Phe4631Leu) c.13809C>G (p.Phe4603Leu) | |
19 | g.38572168C>T | CA507356130 | RYR1 | c.832C>T c.2229C>T c.2201C>T c.13896C>T (p.Phe4632=) c.13881C>T (p.Phe4627=) c.13878C>T (p.Phe4626=) c.356C>T c.13863C>T (p.Phe4621=) c.13893C>T (p.Phe4631=) c.13809C>T (p.Phe4603=) | ClinVar |
19 | g.38572169C>A | CA405680913 | RYR1 | c.833C>A c.2230C>A c.2202C>A c.13897C>A (p.Leu4633Met) c.13882C>A (p.Leu4628Met) c.13879C>A (p.Leu4627Met) c.357C>A c.13864C>A (p.Leu4622Met) c.13894C>A (p.Leu4632Met) c.13810C>A (p.Leu4604Met) | |
19 | g.38572169C>G | CA405680916 | RYR1 | c.833C>G c.2230C>G c.2202C>G c.13897C>G (p.Leu4633Val) c.13882C>G (p.Leu4628Val) c.13879C>G (p.Leu4627Val) c.357C>G c.13864C>G (p.Leu4622Val) c.13894C>G (p.Leu4632Val) c.13810C>G (p.Leu4604Val) | |
19 | g.38572169C>T | CA507356132 | RYR1 | c.833C>T c.2230C>T c.2202C>T c.13897C>T (p.Leu4633=) c.13882C>T (p.Leu4628=) c.13879C>T (p.Leu4627=) c.357C>T c.13864C>T (p.Leu4622=) c.13894C>T (p.Leu4632=) c.13810C>T (p.Leu4604=) | |
19 | g.38572170T>A | CA405680919 | RYR1 | c.834T>A c.2231T>A c.2203T>A c.13898T>A (p.Leu4633Gln) c.13883T>A (p.Leu4628Gln) c.13880T>A (p.Leu4627Gln) c.358T>A c.13865T>A (p.Leu4622Gln) c.13895T>A (p.Leu4632Gln) c.13811T>A (p.Leu4604Gln) | ClinVar dbSNP |
19 | g.38572170T>C | CA405680920 | RYR1 | c.834T>C c.2231T>C c.2203T>C c.13898T>C (p.Leu4633Pro) c.13883T>C (p.Leu4628Pro) c.13880T>C (p.Leu4627Pro) c.358T>C c.13865T>C (p.Leu4622Pro) c.13895T>C (p.Leu4632Pro) c.13811T>C (p.Leu4604Pro) | ClinVar dbSNP |
19 | g.38572170T>G | CA405680923 | RYR1 | c.834T>G c.2231T>G c.2203T>G c.13898T>G (p.Leu4633Arg) c.13883T>G (p.Leu4628Arg) c.13880T>G (p.Leu4627Arg) c.358T>G c.13865T>G (p.Leu4622Arg) c.13895T>G (p.Leu4632Arg) c.13811T>G (p.Leu4604Arg) | |
19 | g.38572170T= | CA2335088423 | RYR1 | c.834T= c.2231T= c.2203T= c.13898T= (p.Leu4633=) c.13883T= (p.Leu4628=) c.13880T= (p.Leu4627=) c.358T= c.13865T= (p.Leu4622=) c.13895T= (p.Leu4632=) c.13811T= (p.Leu4604=) | |
19 | g.38572171G>A | CA507356133 | RYR1 | c.835G>A c.2232G>A c.2204G>A c.13899G>A (p.Leu4633=) c.13884G>A (p.Leu4628=) c.13881G>A (p.Leu4627=) c.359G>A c.13866G>A (p.Leu4622=) c.13896G>A (p.Leu4632=) c.13812G>A (p.Leu4604=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38572171G>C | CA507356134 | RYR1 | c.835G>C c.2232G>C c.2204G>C c.13899G>C (p.Leu4633=) c.13884G>C (p.Leu4628=) c.13881G>C (p.Leu4627=) c.359G>C c.13866G>C (p.Leu4622=) c.13896G>C (p.Leu4632=) c.13812G>C (p.Leu4604=) | |
19 | g.38572171G= | CA2335088424 | RYR1 | c.835G= c.2232G= c.2204G= c.13899G= (p.Leu4633=) c.13884G= (p.Leu4628=) c.13881G= (p.Leu4627=) c.359G= c.13866G= (p.Leu4622=) c.13896G= (p.Leu4632=) c.13812G= (p.Leu4604=) | |
19 | g.38572171G>T | CA507356135 | RYR1 | c.835G>T c.2232G>T c.2204G>T c.13899G>T (p.Leu4633=) c.13884G>T (p.Leu4628=) c.13881G>T (p.Leu4627=) c.359G>T c.13866G>T (p.Leu4622=) c.13896G>T (p.Leu4632=) c.13812G>T (p.Leu4604=) | |
19 | g.38572172G>A | CA024076 | RYR1 | c.836G>A c.2233G>A c.2205G>A c.13900G>A (p.Glu4634Lys) c.13885G>A (p.Glu4629Lys) c.13882G>A (p.Glu4628Lys) c.360G>A c.13867G>A (p.Glu4623Lys) c.13897G>A (p.Glu4633Lys) c.13813G>A (p.Glu4605Lys) | ClinVar dbSNP |
19 | g.38572172G>C | CA405680937 | RYR1 | c.836G>C c.2233G>C c.2205G>C c.13900G>C (p.Glu4634Gln) c.13885G>C (p.Glu4629Gln) c.13882G>C (p.Glu4628Gln) c.360G>C c.13867G>C (p.Glu4623Gln) c.13897G>C (p.Glu4633Gln) c.13813G>C (p.Glu4605Gln) | |
19 | g.38572172G= | CA2335088425 | RYR1 | c.836G= c.2233G= c.2205G= c.13900G= (p.Glu4634=) c.13885G= (p.Glu4629=) c.13882G= (p.Glu4628=) c.360G= c.13867G= (p.Glu4623=) c.13897G= (p.Glu4633=) c.13813G= (p.Glu4605=) | |
19 | g.38572172G>T | CA405680931 | RYR1 | c.836G>T c.2233G>T c.2205G>T c.13900G>T (p.Glu4634Ter) c.13885G>T (p.Glu4629Ter) c.13882G>T (p.Glu4628Ter) c.360G>T c.13867G>T (p.Glu4623Ter) c.13897G>T (p.Glu4633Ter) c.13813G>T (p.Glu4605Ter) | ClinVar dbSNP |
19 | g.38572173A= | CA2335088426 | RYR1 | c.837A= c.2234A= c.2206A= c.13901A= (p.Glu4634=) c.13886A= (p.Glu4629=) c.13883A= (p.Glu4628=) c.361A= c.13868A= (p.Glu4623=) c.13898A= (p.Glu4633=) c.13814A= (p.Glu4605=) | |
19 | g.38572173A>C | CA405680945 | RYR1 | c.837A>C c.2234A>C c.2206A>C c.13901A>C (p.Glu4634Ala) c.13886A>C (p.Glu4629Ala) c.13883A>C (p.Glu4628Ala) c.361A>C c.13868A>C (p.Glu4623Ala) c.13898A>C (p.Glu4633Ala) c.13814A>C (p.Glu4605Ala) | |
19 | g.38572173A>G | CA405680946 | RYR1 | c.837A>G c.2234A>G c.2206A>G c.13901A>G (p.Glu4634Gly) c.13886A>G (p.Glu4629Gly) c.13883A>G (p.Glu4628Gly) c.361A>G c.13868A>G (p.Glu4623Gly) c.13898A>G (p.Glu4633Gly) c.13814A>G (p.Glu4605Gly) | gnomAD v4 |
19 | g.38572173A>T | CA060634 | RYR1 | c.837A>T c.2234A>T c.2206A>T c.13901A>T (p.Glu4634Val) c.13886A>T (p.Glu4629Val) c.13883A>T (p.Glu4628Val) c.361A>T c.13868A>T (p.Glu4623Val) c.13898A>T (p.Glu4633Val) c.13814A>T (p.Glu4605Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38572174G>A | CA507356136 | RYR1 | c.838G>A c.2235G>A c.2207G>A c.13902G>A (p.Glu4634=) c.13887G>A (p.Glu4629=) c.13884G>A (p.Glu4628=) c.362G>A c.13869G>A (p.Glu4623=) c.13899G>A (p.Glu4633=) c.13815G>A (p.Glu4605=) | |
19 | g.38572174G>C | CA405680950 | RYR1 | c.838G>C c.2235G>C c.2207G>C c.13902G>C (p.Glu4634Asp) c.13887G>C (p.Glu4629Asp) c.13884G>C (p.Glu4628Asp) c.362G>C c.13869G>C (p.Glu4623Asp) c.13899G>C (p.Glu4633Asp) c.13815G>C (p.Glu4605Asp) | |
19 | g.38572174G>T | CA405680951 | RYR1 | c.838G>T c.2235G>T c.2207G>T c.13902G>T (p.Glu4634Asp) c.13887G>T (p.Glu4629Asp) c.13884G>T (p.Glu4628Asp) c.362G>T c.13869G>T (p.Glu4623Asp) c.13899G>T (p.Glu4633Asp) c.13815G>T (p.Glu4605Asp) | |
19 | g.38572175G>A | CA405680955 | RYR1 | c.839G>A c.2236G>A c.2208G>A c.13903G>A (p.Glu4635Lys) c.13888G>A (p.Glu4630Lys) c.13885G>A (p.Glu4629Lys) c.363G>A c.13870G>A (p.Glu4624Lys) c.13900G>A (p.Glu4634Lys) c.13816G>A (p.Glu4606Lys) | ClinVar dbSNP COSMIC |
19 | g.38572175G>C | CA405680952 | RYR1 | c.839G>C c.2236G>C c.2208G>C c.13903G>C (p.Glu4635Gln) c.13888G>C (p.Glu4630Gln) c.13885G>C (p.Glu4629Gln) c.363G>C c.13870G>C (p.Glu4624Gln) c.13900G>C (p.Glu4634Gln) c.13816G>C (p.Glu4606Gln) | |
19 | g.38572175G= | CA2335088427 | RYR1 | c.839G= c.2236G= c.2208G= c.13903G= (p.Glu4635=) c.13888G= (p.Glu4630=) c.13885G= (p.Glu4629=) c.363G= c.13870G= (p.Glu4624=) c.13900G= (p.Glu4634=) c.13816G= (p.Glu4606=) | |
19 | g.38572175G>T | CA405680953 | RYR1 | c.839G>T c.2236G>T c.2208G>T c.13903G>T (p.Glu4635Ter) c.13888G>T (p.Glu4630Ter) c.13885G>T (p.Glu4629Ter) c.363G>T c.13870G>T (p.Glu4624Ter) c.13900G>T (p.Glu4634Ter) c.13816G>T (p.Glu4606Ter) | |
19 | g.38572176A= | CA2335088428 | RYR1 | c.840A= c.2237A= c.2209A= c.13904A= (p.Glu4635=) c.13889A= (p.Glu4630=) c.13886A= (p.Glu4629=) c.364A= c.13871A= (p.Glu4624=) c.13901A= (p.Glu4634=) c.13817A= (p.Glu4606=) | |
19 | g.38572176A>C | CA405680958 | RYR1 | c.840A>C c.2237A>C c.2209A>C c.13904A>C (p.Glu4635Ala) c.13889A>C (p.Glu4630Ala) c.13886A>C (p.Glu4629Ala) c.364A>C c.13871A>C (p.Glu4624Ala) c.13901A>C (p.Glu4634Ala) c.13817A>C (p.Glu4606Ala) | |
19 | g.38572176A>G | CA405680961 | RYR1 | c.840A>G c.2237A>G c.2209A>G c.13904A>G (p.Glu4635Gly) c.13889A>G (p.Glu4630Gly) c.13886A>G (p.Glu4629Gly) c.364A>G c.13871A>G (p.Glu4624Gly) c.13901A>G (p.Glu4634Gly) c.13817A>G (p.Glu4606Gly) | ClinVar dbSNP |
19 | g.38572176A>T | CA081031 | RYR1 | c.840A>T c.2237A>T c.2209A>T c.13904A>T (p.Glu4635Val) c.13889A>T (p.Glu4630Val) c.13886A>T (p.Glu4629Val) c.364A>T c.13871A>T (p.Glu4624Val) c.13901A>T (p.Glu4634Val) c.13817A>T (p.Glu4606Val) | COSMIC |
19 | g.38572177A>C | CA405680972 | RYR1 | c.841A>C c.2238A>C c.2210A>C c.13905A>C (p.Glu4635Asp) c.13890A>C (p.Glu4630Asp) c.13887A>C (p.Glu4629Asp) c.365A>C c.13872A>C (p.Glu4624Asp) c.13902A>C (p.Glu4634Asp) c.13818A>C (p.Glu4606Asp) | |
19 | g.38572177A>G | CA507356138 | RYR1 | c.841A>G c.2238A>G c.2210A>G c.13905A>G (p.Glu4635=) c.13890A>G (p.Glu4630=) c.13887A>G (p.Glu4629=) c.365A>G c.13872A>G (p.Glu4624=) c.13902A>G (p.Glu4634=) c.13818A>G (p.Glu4606=) | dbSNP |
19 | g.38572177A>T | CA405680974 | RYR1 | c.841A>T c.2238A>T c.2210A>T c.13905A>T (p.Glu4635Asp) c.13890A>T (p.Glu4630Asp) c.13887A>T (p.Glu4629Asp) c.365A>T c.13872A>T (p.Glu4624Asp) c.13902A>T (p.Glu4634Asp) c.13818A>T (p.Glu4606Asp) | |
19 | g.38572178A= | CA2335088429 | RYR1 | c.842A= c.2239A= c.2211A= c.13906A= (p.Ser4636=) c.13891A= (p.Ser4631=) c.13888A= (p.Ser4630=) c.366A= c.13873A= (p.Ser4625=) c.13903A= (p.Ser4635=) c.13819A= (p.Ser4607=) | |
19 | g.38572178A>C | CA405680980 | RYR1 | c.842A>C c.2239A>C c.2211A>C c.13906A>C (p.Ser4636Arg) c.13891A>C (p.Ser4631Arg) c.13888A>C (p.Ser4630Arg) c.366A>C c.13873A>C (p.Ser4625Arg) c.13903A>C (p.Ser4635Arg) c.13819A>C (p.Ser4607Arg) | |
19 | g.38572178A>G | CA060639 | RYR1 | c.842A>G c.2239A>G c.2211A>G c.13906A>G (p.Ser4636Gly) c.13891A>G (p.Ser4631Gly) c.13888A>G (p.Ser4630Gly) c.366A>G c.13873A>G (p.Ser4625Gly) c.13903A>G (p.Ser4635Gly) c.13819A>G (p.Ser4607Gly) | ClinVar dbSNP ExAC gnomAD v2 |
19 | g.38572178A>T | CA405680985 | RYR1 | c.842A>T c.2239A>T c.2211A>T c.13906A>T (p.Ser4636Cys) c.13891A>T (p.Ser4631Cys) c.13888A>T (p.Ser4630Cys) c.366A>T c.13873A>T (p.Ser4625Cys) c.13903A>T (p.Ser4635Cys) c.13819A>T (p.Ser4607Cys) | |
19 | g.38572179G>A | CA308114119 | RYR1 | c.843G>A c.2240G>A c.2212G>A c.13907G>A (p.Ser4636Asn) c.13892G>A (p.Ser4631Asn) c.13889G>A (p.Ser4630Asn) c.367G>A c.13874G>A (p.Ser4625Asn) c.13904G>A (p.Ser4635Asn) c.13820G>A (p.Ser4607Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38572179G>C | CA405680996 | RYR1 | c.843G>C c.2240G>C c.2212G>C c.13907G>C (p.Ser4636Thr) c.13892G>C (p.Ser4631Thr) c.13889G>C (p.Ser4630Thr) c.367G>C c.13874G>C (p.Ser4625Thr) c.13904G>C (p.Ser4635Thr) c.13820G>C (p.Ser4607Thr) | |
19 | g.38572179G= | CA2335088430 | RYR1 | c.843G= c.2240G= c.2212G= c.13907G= (p.Ser4636=) c.13892G= (p.Ser4631=) c.13889G= (p.Ser4630=) c.367G= c.13874G= (p.Ser4625=) c.13904G= (p.Ser4635=) c.13820G= (p.Ser4607=) | |
19 | g.38572179G>T | CA405680993 | RYR1 | c.843G>T c.2240G>T c.2212G>T c.13907G>T (p.Ser4636Ile) c.13892G>T (p.Ser4631Ile) c.13889G>T (p.Ser4630Ile) c.367G>T c.13874G>T (p.Ser4625Ile) c.13904G>T (p.Ser4635Ile) c.13820G>T (p.Ser4607Ile) | |
19 | g.38572180C>A | CA405680999 | RYR1 | c.844C>A c.2241C>A c.2213C>A c.13908C>A (p.Ser4636Arg) c.13893C>A (p.Ser4631Arg) c.13890C>A (p.Ser4630Arg) c.368C>A c.13875C>A (p.Ser4625Arg) c.13905C>A (p.Ser4635Arg) c.13821C>A (p.Ser4607Arg) | |
19 | g.38572180C>G | CA405681001 | RYR1 | c.844C>G c.2241C>G c.2213C>G c.13908C>G (p.Ser4636Arg) c.13893C>G (p.Ser4631Arg) c.13890C>G (p.Ser4630Arg) c.368C>G c.13875C>G (p.Ser4625Arg) c.13905C>G (p.Ser4635Arg) c.13821C>G (p.Ser4607Arg) | |
19 | g.38572180C>T | CA507356140 | RYR1 | c.844C>T c.2241C>T c.2213C>T c.13908C>T (p.Ser4636=) c.13893C>T (p.Ser4631=) c.13890C>T (p.Ser4630=) c.368C>T c.13875C>T (p.Ser4625=) c.13905C>T (p.Ser4635=) c.13821C>T (p.Ser4607=) | |
19 | g.38572181A= | CA2335088431 | RYR1 | c.845A= c.2242A= c.2214A= c.13909A= (p.Thr4637=) c.13894A= (p.Thr4632=) c.13891A= (p.Thr4631=) c.369A= c.13876A= (p.Thr4626=) c.13906A= (p.Thr4636=) c.13822A= (p.Thr4608=) | |
19 | g.38572181A>C | CA405681005 | RYR1 | c.845A>C c.2242A>C c.2214A>C c.13909A>C (p.Thr4637Pro) c.13894A>C (p.Thr4632Pro) c.13891A>C (p.Thr4631Pro) c.369A>C c.13876A>C (p.Thr4626Pro) c.13906A>C (p.Thr4636Pro) c.13822A>C (p.Thr4608Pro) | ClinVar |
19 | g.38572181A>G | CA024078 | RYR1 | c.845A>G c.2242A>G c.2214A>G c.13909A>G (p.Thr4637Ala) c.13894A>G (p.Thr4632Ala) c.13891A>G (p.Thr4631Ala) c.369A>G c.13876A>G (p.Thr4626Ala) c.13906A>G (p.Thr4636Ala) c.13822A>G (p.Thr4608Ala) | ClinVar dbSNP |
19 | g.38572181A>T | CA405681013 | RYR1 | c.845A>T c.2242A>T c.2214A>T c.13909A>T (p.Thr4637Ser) c.13894A>T (p.Thr4632Ser) c.13891A>T (p.Thr4631Ser) c.369A>T c.13876A>T (p.Thr4626Ser) c.13906A>T (p.Thr4636Ser) c.13822A>T (p.Thr4608Ser) | |
19 | g.38572182C>A | CA405681016 | RYR1 | c.846C>A c.2243C>A c.2215C>A c.13910C>A (p.Thr4637Lys) c.13895C>A (p.Thr4632Lys) c.13892C>A (p.Thr4631Lys) c.370C>A c.13877C>A (p.Thr4626Lys) c.13907C>A (p.Thr4636Lys) c.13823C>A (p.Thr4608Lys) | |
19 | g.38572182C= | CA2335088432 | RYR1 | c.846C= c.2243C= c.2215C= c.13910C= (p.Thr4637=) c.13895C= (p.Thr4632=) c.13892C= (p.Thr4631=) c.370C= c.13877C= (p.Thr4626=) c.13907C= (p.Thr4636=) c.13823C= (p.Thr4608=) | |
19 | g.38572182C>G | CA405681019 | RYR1 | c.846C>G c.2243C>G c.2215C>G c.13910C>G (p.Thr4637Arg) c.13895C>G (p.Thr4632Arg) c.13892C>G (p.Thr4631Arg) c.370C>G c.13877C>G (p.Thr4626Arg) c.13907C>G (p.Thr4636Arg) c.13823C>G (p.Thr4608Arg) | |
19 | g.38572182C>T | CA024080 | RYR1 | c.846C>T c.2243C>T c.2215C>T c.13910C>T (p.Thr4637Ile) c.13895C>T (p.Thr4632Ile) c.13892C>T (p.Thr4631Ile) c.370C>T c.13877C>T (p.Thr4626Ile) c.13907C>T (p.Thr4636Ile) c.13823C>T (p.Thr4608Ile) | ClinVar dbSNP |
19 | g.38572183A>C | CA507356142 | RYR1 | c.847A>C c.2244A>C c.2216A>C c.13911A>C (p.Thr4637=) c.13896A>C (p.Thr4632=) c.13893A>C (p.Thr4631=) c.371A>C c.13878A>C (p.Thr4626=) c.13908A>C (p.Thr4636=) c.13824A>C (p.Thr4608=) | |
19 | g.38572183A>G | CA507356143 | RYR1 | c.847A>G c.2244A>G c.2216A>G c.13911A>G (p.Thr4637=) c.13896A>G (p.Thr4632=) c.13893A>G (p.Thr4631=) c.371A>G c.13878A>G (p.Thr4626=) c.13908A>G (p.Thr4636=) c.13824A>G (p.Thr4608=) | dbSNP |
19 | g.38572183A>T | CA507356144 | RYR1 | c.847A>T c.2244A>T c.2216A>T c.13911A>T (p.Thr4637=) c.13896A>T (p.Thr4632=) c.13893A>T (p.Thr4631=) c.371A>T c.13878A>T (p.Thr4626=) c.13908A>T (p.Thr4636=) c.13824A>T (p.Thr4608=) | |
19 | g.38572184G>A | CA024082 | RYR1 | c.848G>A c.2245G>A c.2217G>A c.13912G>A (p.Gly4638Ser) c.13897G>A (p.Gly4633Ser) c.13894G>A (p.Gly4632Ser) c.372G>A c.13879G>A (p.Gly4627Ser) c.13909G>A (p.Gly4637Ser) c.13825G>A (p.Gly4609Ser) | ClinVar dbSNP |
19 | g.38572184G>C | CA405681030 | RYR1 | c.848G>C c.2245G>C c.2217G>C c.13912G>C (p.Gly4638Arg) c.13897G>C (p.Gly4633Arg) c.13894G>C (p.Gly4632Arg) c.372G>C c.13879G>C (p.Gly4627Arg) c.13909G>C (p.Gly4637Arg) c.13825G>C (p.Gly4609Arg) | |
19 | g.38572184G= | CA2335088433 | RYR1 | c.848G= c.2245G= c.2217G= c.13912G= (p.Gly4638=) c.13897G= (p.Gly4633=) c.13894G= (p.Gly4632=) c.372G= c.13879G= (p.Gly4627=) c.13909G= (p.Gly4637=) c.13825G= (p.Gly4609=) | |
19 | g.38572184G>T | CA405681034 | RYR1 | c.848G>T c.2245G>T c.2217G>T c.13912G>T (p.Gly4638Cys) c.13897G>T (p.Gly4633Cys) c.13894G>T (p.Gly4632Cys) c.372G>T c.13879G>T (p.Gly4627Cys) c.13909G>T (p.Gly4637Cys) c.13825G>T (p.Gly4609Cys) | |
19 | g.38572185G>A | CA024084 | RYR1 | c.849G>A c.2246G>A c.2218G>A c.13913G>A (p.Gly4638Asp) c.13898G>A (p.Gly4633Asp) c.13895G>A (p.Gly4632Asp) c.373G>A c.13880G>A (p.Gly4627Asp) c.13910G>A (p.Gly4637Asp) c.13826G>A (p.Gly4609Asp) | ClinVar dbSNP gnomAD v4 |
19 | g.38572185G>C | CA405681038 | RYR1 | c.849G>C c.2246G>C c.2218G>C c.13913G>C (p.Gly4638Ala) c.13898G>C (p.Gly4633Ala) c.13895G>C (p.Gly4632Ala) c.373G>C c.13880G>C (p.Gly4627Ala) c.13910G>C (p.Gly4637Ala) c.13826G>C (p.Gly4609Ala) | |
19 | g.38572185G= | CA2335088434 | RYR1 | c.849G= c.2246G= c.2218G= c.13913G= (p.Gly4638=) c.13898G= (p.Gly4633=) c.13895G= (p.Gly4632=) c.373G= c.13880G= (p.Gly4627=) c.13910G= (p.Gly4637=) c.13826G= (p.Gly4609=) | |
19 | g.38572185G>T | CA405681040 | RYR1 | c.849G>T c.2246G>T c.2218G>T c.13913G>T (p.Gly4638Val) c.13898G>T (p.Gly4633Val) c.13895G>T (p.Gly4632Val) c.373G>T c.13880G>T (p.Gly4627Val) c.13910G>T (p.Gly4637Val) c.13826G>T (p.Gly4609Val) | |
19 | g.38572186C>A | CA507356148 | RYR1 | c.850C>A c.2247C>A c.2219C>A c.13914C>A (p.Gly4638=) c.13899C>A (p.Gly4633=) c.13896C>A (p.Gly4632=) c.374C>A c.13881C>A (p.Gly4627=) c.13911C>A (p.Gly4637=) c.13827C>A (p.Gly4609=) | |
19 | g.38572186C>G | CA507356146 | RYR1 | c.850C>G c.2247C>G c.2219C>G c.13914C>G (p.Gly4638=) c.13899C>G (p.Gly4633=) c.13896C>G (p.Gly4632=) c.374C>G c.13881C>G (p.Gly4627=) c.13911C>G (p.Gly4637=) c.13827C>G (p.Gly4609=) | COSMIC |
19 | g.38572186C>T | CA507356145 | RYR1 | c.850C>T c.2247C>T c.2219C>T c.13914C>T (p.Gly4638=) c.13899C>T (p.Gly4633=) c.13896C>T (p.Gly4632=) c.374C>T c.13881C>T (p.Gly4627=) c.13911C>T (p.Gly4637=) c.13827C>T (p.Gly4609=) | |
19 | g.38572187T>A | CA405681043 | RYR1 | c.851T>A c.2248T>A c.2220T>A c.13915T>A (p.Tyr4639Asn) c.13900T>A (p.Tyr4634Asn) c.13897T>A (p.Tyr4633Asn) c.375T>A c.13882T>A (p.Tyr4628Asn) c.13912T>A (p.Tyr4638Asn) c.13828T>A (p.Tyr4610Asn) | |
19 | g.38572187T>C | CA405681046 | RYR1 | c.851T>C c.2248T>C c.2220T>C c.13915T>C (p.Tyr4639His) c.13900T>C (p.Tyr4634His) c.13897T>C (p.Tyr4633His) c.375T>C c.13882T>C (p.Tyr4628His) c.13912T>C (p.Tyr4638His) c.13828T>C (p.Tyr4610His) | |
19 | g.38572187T>G | CA405681051 | RYR1 | c.851T>G c.2248T>G c.2220T>G c.13915T>G (p.Tyr4639Asp) c.13900T>G (p.Tyr4634Asp) c.13897T>G (p.Tyr4633Asp) c.375T>G c.13882T>G (p.Tyr4628Asp) c.13912T>G (p.Tyr4638Asp) c.13828T>G (p.Tyr4610Asp) | |
19 | g.38572188A>C | CA405681057 | RYR1 | c.852A>C c.2249A>C c.2221A>C c.13916A>C (p.Tyr4639Ser) c.13901A>C (p.Tyr4634Ser) c.13898A>C (p.Tyr4633Ser) c.376A>C c.13883A>C (p.Tyr4628Ser) c.13913A>C (p.Tyr4638Ser) c.13829A>C (p.Tyr4610Ser) | |
19 | g.38572188A>G | CA405681059 | RYR1 | c.852A>G c.2249A>G c.2221A>G c.13916A>G (p.Tyr4639Cys) c.13901A>G (p.Tyr4634Cys) c.13898A>G (p.Tyr4633Cys) c.376A>G c.13883A>G (p.Tyr4628Cys) c.13913A>G (p.Tyr4638Cys) c.13829A>G (p.Tyr4610Cys) | |
19 | g.38572188A>T | CA405681063 | RYR1 | c.852A>T c.2249A>T c.2221A>T c.13916A>T (p.Tyr4639Phe) c.13901A>T (p.Tyr4634Phe) c.13898A>T (p.Tyr4633Phe) c.376A>T c.13883A>T (p.Tyr4628Phe) c.13913A>T (p.Tyr4638Phe) c.13829A>T (p.Tyr4610Phe) | |
19 | g.38572189C>A | CA405681065 | RYR1 | c.853C>A c.2250C>A c.2222C>A c.13917C>A (p.Tyr4639Ter) c.13902C>A (p.Tyr4634Ter) c.13899C>A (p.Tyr4633Ter) c.377C>A c.13884C>A (p.Tyr4628Ter) c.13914C>A (p.Tyr4638Ter) c.13830C>A (p.Tyr4610Ter) | |
19 | g.38572189C>G | CA405681066 | RYR1 | c.853C>G c.2250C>G c.2222C>G c.13917C>G (p.Tyr4639Ter) c.13902C>G (p.Tyr4634Ter) c.13899C>G (p.Tyr4633Ter) c.377C>G c.13884C>G (p.Tyr4628Ter) c.13914C>G (p.Tyr4638Ter) c.13830C>G (p.Tyr4610Ter) | |
19 | g.38572189C>T | CA507356150 | RYR1 | c.853C>T c.2250C>T c.2222C>T c.13917C>T (p.Tyr4639=) c.13902C>T (p.Tyr4634=) c.13899C>T (p.Tyr4633=) c.377C>T c.13884C>T (p.Tyr4628=) c.13914C>T (p.Tyr4638=) c.13830C>T (p.Tyr4610=) | gnomAD v4 |
19 | g.38572190A= | CA2335088435 | RYR1 | c.854A= c.2251A= c.2223A= c.13918A= (p.Met4640=) c.13903A= (p.Met4635=) c.13900A= (p.Met4634=) c.378A= c.13885A= (p.Met4629=) c.13915A= (p.Met4639=) c.13831A= (p.Met4611=) | |
19 | g.38572190A>C | CA405681071 | RYR1 | c.854A>C c.2251A>C c.2223A>C c.13918A>C (p.Met4640Leu) c.13903A>C (p.Met4635Leu) c.13900A>C (p.Met4634Leu) c.378A>C c.13885A>C (p.Met4629Leu) c.13915A>C (p.Met4639Leu) c.13831A>C (p.Met4611Leu) | gnomAD v4 |
19 | g.38572190A>G | CA060644 | RYR1 | c.854A>G c.2251A>G c.2223A>G c.13918A>G (p.Met4640Val) c.13903A>G (p.Met4635Val) c.13900A>G (p.Met4634Val) c.378A>G c.13885A>G (p.Met4629Val) c.13915A>G (p.Met4639Val) c.13831A>G (p.Met4611Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38572190A>T | CA405681076 | RYR1 | c.854A>T c.2251A>T c.2223A>T c.13918A>T (p.Met4640Leu) c.13903A>T (p.Met4635Leu) c.13900A>T (p.Met4634Leu) c.378A>T c.13885A>T (p.Met4629Leu) c.13915A>T (p.Met4639Leu) c.13831A>T (p.Met4611Leu) | ClinVar dbSNP |
19 | g.38572191T>A | CA405681082 | RYR1 | c.855T>A c.2252T>A c.2224T>A c.13919T>A (p.Met4640Lys) c.13904T>A (p.Met4635Lys) c.13901T>A (p.Met4634Lys) c.379T>A c.13886T>A (p.Met4629Lys) c.13916T>A (p.Met4639Lys) c.13832T>A (p.Met4611Lys) | |
19 | g.38572191T>C | CA405681084 | RYR1 | c.855T>C c.2252T>C c.2224T>C c.13919T>C (p.Met4640Thr) c.13904T>C (p.Met4635Thr) c.13901T>C (p.Met4634Thr) c.379T>C c.13886T>C (p.Met4629Thr) c.13916T>C (p.Met4639Thr) c.13832T>C (p.Met4611Thr) | |
19 | g.38572191T>G | CA405681080 | RYR1 | c.855T>G c.2252T>G c.2224T>G c.13919T>G (p.Met4640Arg) c.13904T>G (p.Met4635Arg) c.13901T>G (p.Met4634Arg) c.379T>G c.13886T>G (p.Met4629Arg) c.13916T>G (p.Met4639Arg) c.13832T>G (p.Met4611Arg) | ClinVar dbSNP |
19 | g.38572191T= | CA2335088436 | RYR1 | c.855T= c.2252T= c.2224T= c.13919T= (p.Met4640=) c.13904T= (p.Met4635=) c.13901T= (p.Met4634=) c.379T= c.13886T= (p.Met4629=) c.13916T= (p.Met4639=) c.13832T= (p.Met4611=) | |
19 | g.38572192G>A | CA405681090 | RYR1 | c.856G>A c.2253G>A c.2225G>A c.13920G>A (p.Met4640Ile) c.13905G>A (p.Met4635Ile) c.13902G>A (p.Met4634Ile) c.380G>A c.13887G>A (p.Met4629Ile) c.13917G>A (p.Met4639Ile) c.13833G>A (p.Met4611Ile) | ClinVar dbSNP |
19 | g.38572192G>C | CA405681094 | RYR1 | c.856G>C c.2253G>C c.2225G>C c.13920G>C (p.Met4640Ile) c.13905G>C (p.Met4635Ile) c.13902G>C (p.Met4634Ile) c.380G>C c.13887G>C (p.Met4629Ile) c.13917G>C (p.Met4639Ile) c.13833G>C (p.Met4611Ile) | |
19 | g.38572192G= | CA2335088437 | RYR1 | c.856G= c.2253G= c.2225G= c.13920G= (p.Met4640=) c.13905G= (p.Met4635=) c.13902G= (p.Met4634=) c.380G= c.13887G= (p.Met4629=) c.13917G= (p.Met4639=) c.13833G= (p.Met4611=) | |
19 | g.38572192G>T | CA405681109 | RYR1 | c.856G>T c.2253G>T c.2225G>T c.13920G>T (p.Met4640Ile) c.13905G>T (p.Met4635Ile) c.13902G>T (p.Met4634Ile) c.380G>T c.13887G>T (p.Met4629Ile) c.13917G>T (p.Met4639Ile) c.13833G>T (p.Met4611Ile) | |
19 | g.38572193G>A | CA405681114 | RYR1 | c.857G>A c.2254G>A c.2226G>A c.13921G>A (p.Glu4641Lys) c.13906G>A (p.Glu4636Lys) c.13903G>A (p.Glu4635Lys) c.381G>A c.13888G>A (p.Glu4630Lys) c.13918G>A (p.Glu4640Lys) c.13834G>A (p.Glu4612Lys) | |
19 | g.38572193G>C | CA405681117 | RYR1 | c.857G>C c.2254G>C c.2226G>C c.13921G>C (p.Glu4641Gln) c.13906G>C (p.Glu4636Gln) c.13903G>C (p.Glu4635Gln) c.381G>C c.13888G>C (p.Glu4630Gln) c.13918G>C (p.Glu4640Gln) c.13834G>C (p.Glu4612Gln) | |
19 | g.38572193G>T | CA405681119 | RYR1 | c.857G>T c.2254G>T c.2226G>T c.13921G>T (p.Glu4641Ter) c.13906G>T (p.Glu4636Ter) c.13903G>T (p.Glu4635Ter) c.381G>T c.13888G>T (p.Glu4630Ter) c.13918G>T (p.Glu4640Ter) c.13834G>T (p.Glu4612Ter) | |
19 | g.38572194A= | CA2335088438 | RYR1 | c.858A= c.2255A= c.2227A= c.13922A= (p.Glu4641=) c.13907A= (p.Glu4636=) c.13904A= (p.Glu4635=) c.382A= c.13889A= (p.Glu4630=) c.13919A= (p.Glu4640=) c.13835A= (p.Glu4612=) | |
19 | g.38572194A>C | CA405681140 | RYR1 | c.858A>C c.2255A>C c.2227A>C c.13922A>C (p.Glu4641Ala) c.13907A>C (p.Glu4636Ala) c.13904A>C (p.Glu4635Ala) c.382A>C c.13889A>C (p.Glu4630Ala) c.13919A>C (p.Glu4640Ala) c.13835A>C (p.Glu4612Ala) | |
19 | g.38572194A>G | CA405681124 | RYR1 | c.858A>G c.2255A>G c.2227A>G c.13922A>G (p.Glu4641Gly) c.13907A>G (p.Glu4636Gly) c.13904A>G (p.Glu4635Gly) c.382A>G c.13889A>G (p.Glu4630Gly) c.13919A>G (p.Glu4640Gly) c.13835A>G (p.Glu4612Gly) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38572194A>T | CA405681134 | RYR1 | c.858A>T c.2255A>T c.2227A>T c.13922A>T (p.Glu4641Val) c.13907A>T (p.Glu4636Val) c.13904A>T (p.Glu4635Val) c.382A>T c.13889A>T (p.Glu4630Val) c.13919A>T (p.Glu4640Val) c.13835A>T (p.Glu4612Val) | |
19 | g.38572195A>C | CA405681142 | RYR1 | c.859A>C c.2256A>C c.2228A>C c.13923A>C (p.Glu4641Asp) c.13908A>C (p.Glu4636Asp) c.13905A>C (p.Glu4635Asp) c.383A>C c.13890A>C (p.Glu4630Asp) c.13920A>C (p.Glu4640Asp) c.13836A>C (p.Glu4612Asp) | |
19 | g.38572195A>G | CA507356154 | RYR1 | c.859A>G c.2256A>G c.2228A>G c.13923A>G (p.Glu4641=) c.13908A>G (p.Glu4636=) c.13905A>G (p.Glu4635=) c.383A>G c.13890A>G (p.Glu4630=) c.13920A>G (p.Glu4640=) c.13836A>G (p.Glu4612=) | dbSNP |
19 | g.38572195A>T | CA405681144 | RYR1 | c.859A>T c.2256A>T c.2228A>T c.13923A>T (p.Glu4641Asp) c.13908A>T (p.Glu4636Asp) c.13905A>T (p.Glu4635Asp) c.383A>T c.13890A>T (p.Glu4630Asp) c.13920A>T (p.Glu4640Asp) c.13836A>T (p.Glu4612Asp) | |
19 | g.38572196C>A | CA405681147 | RYR1 | c.860C>A c.2257C>A c.2229C>A c.13924C>A (p.Pro4642Thr) c.13909C>A (p.Pro4637Thr) c.13906C>A (p.Pro4636Thr) c.384C>A c.13891C>A (p.Pro4631Thr) c.13921C>A (p.Pro4641Thr) c.13837C>A (p.Pro4613Thr) | |
19 | g.38572196C= | CA2335088439 | RYR1 | c.860C= c.2257C= c.2229C= c.13924C= (p.Pro4642=) c.13909C= (p.Pro4637=) c.13906C= (p.Pro4636=) c.384C= c.13891C= (p.Pro4631=) c.13921C= (p.Pro4641=) c.13837C= (p.Pro4613=) | |
19 | g.38572196C>G | CA060649 | RYR1 | c.860C>G c.2257C>G c.2229C>G c.13924C>G (p.Pro4642Ala) c.13909C>G (p.Pro4637Ala) c.13906C>G (p.Pro4636Ala) c.384C>G c.13891C>G (p.Pro4631Ala) c.13921C>G (p.Pro4641Ala) c.13837C>G (p.Pro4613Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38572196C>T | CA405681153 | RYR1 | c.860C>T c.2257C>T c.2229C>T c.13924C>T (p.Pro4642Ser) c.13909C>T (p.Pro4637Ser) c.13906C>T (p.Pro4636Ser) c.384C>T c.13891C>T (p.Pro4631Ser) c.13921C>T (p.Pro4641Ser) c.13837C>T (p.Pro4613Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38572197C>A | CA405681157 | RYR1 | c.861C>A c.2258C>A c.2230C>A c.13925C>A (p.Pro4642His) c.13910C>A (p.Pro4637His) c.13907C>A (p.Pro4636His) c.385C>A c.13892C>A (p.Pro4631His) c.13922C>A (p.Pro4641His) c.13838C>A (p.Pro4613His) | |
19 | g.38572197C>G | CA405681163 | RYR1 | c.861C>G c.2258C>G c.2230C>G c.13925C>G (p.Pro4642Arg) c.13910C>G (p.Pro4637Arg) c.13907C>G (p.Pro4636Arg) c.385C>G c.13892C>G (p.Pro4631Arg) c.13922C>G (p.Pro4641Arg) c.13838C>G (p.Pro4613Arg) | ClinVar |
19 | g.38572197C>T | CA405681161 | RYR1 | c.861C>T c.2258C>T c.2230C>T c.13925C>T (p.Pro4642Leu) c.13910C>T (p.Pro4637Leu) c.13907C>T (p.Pro4636Leu) c.385C>T c.13892C>T (p.Pro4631Leu) c.13922C>T (p.Pro4641Leu) c.13838C>T (p.Pro4613Leu) | ClinVar dbSNP gnomAD v4 |
19 | g.38572198C>A | CA507356157 | RYR1 | c.862C>A c.2259C>A c.2231C>A c.13926C>A (p.Pro4642=) c.13911C>A (p.Pro4637=) c.13908C>A (p.Pro4636=) c.386C>A c.13893C>A (p.Pro4631=) c.13923C>A (p.Pro4641=) c.13839C>A (p.Pro4613=) | |
19 | g.38572198C= | CA2335088440 | RYR1 | c.862C= c.2259C= c.2231C= c.13926C= (p.Pro4642=) c.13911C= (p.Pro4637=) c.13908C= (p.Pro4636=) c.386C= c.13893C= (p.Pro4631=) c.13923C= (p.Pro4641=) c.13839C= (p.Pro4613=) | |
19 | g.38572198C>G | CA507356159 | RYR1 | c.862C>G c.2259C>G c.2231C>G c.13926C>G (p.Pro4642=) c.13911C>G (p.Pro4637=) c.13908C>G (p.Pro4636=) c.386C>G c.13893C>G (p.Pro4631=) c.13923C>G (p.Pro4641=) c.13839C>G (p.Pro4613=) | |
19 | g.38572198C>T | CA060654 | RYR1 | c.862C>T c.2259C>T c.2231C>T c.13926C>T (p.Pro4642=) c.13911C>T (p.Pro4637=) c.13908C>T (p.Pro4636=) c.386C>T c.13893C>T (p.Pro4631=) c.13923C>T (p.Pro4641=) c.13839C>T (p.Pro4613=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38572199G>A | CA060657 | RYR1 | c.863G>A c.2260G>A c.2232G>A c.13927G>A (p.Ala4643Thr) c.13912G>A (p.Ala4638Thr) c.13909G>A (p.Ala4637Thr) c.387G>A c.13894G>A (p.Ala4632Thr) c.13924G>A (p.Ala4642Thr) c.13840G>A (p.Ala4614Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38572199G>C | CA405681167 | RYR1 | c.863G>C c.2260G>C c.2232G>C c.13927G>C (p.Ala4643Pro) c.13912G>C (p.Ala4638Pro) c.13909G>C (p.Ala4637Pro) c.387G>C c.13894G>C (p.Ala4632Pro) c.13924G>C (p.Ala4642Pro) c.13840G>C (p.Ala4614Pro) | |
19 | g.38572199G= | CA2335088441 | RYR1 | c.863G= c.2260G= c.2232G= c.13927G= (p.Ala4643=) c.13912G= (p.Ala4638=) c.13909G= (p.Ala4637=) c.387G= c.13894G= (p.Ala4632=) c.13924G= (p.Ala4642=) c.13840G= (p.Ala4614=) | |
19 | g.38572199G>T | CA405681169 | RYR1 | c.863G>T c.2260G>T c.2232G>T c.13927G>T (p.Ala4643Ser) c.13912G>T (p.Ala4638Ser) c.13909G>T (p.Ala4637Ser) c.387G>T c.13894G>T (p.Ala4632Ser) c.13924G>T (p.Ala4642Ser) c.13840G>T (p.Ala4614Ser) | ClinVar |
19 | g.38572200C>A | CA405681170 | RYR1 | c.864C>A c.2261C>A c.2233C>A c.13928C>A (p.Ala4643Asp) c.13913C>A (p.Ala4638Asp) c.13910C>A (p.Ala4637Asp) c.388C>A c.13895C>A (p.Ala4632Asp) c.13925C>A (p.Ala4642Asp) c.13841C>A (p.Ala4614Asp) | |
19 | g.38572200C>G | CA405681171 | RYR1 | c.864C>G c.2261C>G c.2233C>G c.13928C>G (p.Ala4643Gly) c.13913C>G (p.Ala4638Gly) c.13910C>G (p.Ala4637Gly) c.388C>G c.13895C>G (p.Ala4632Gly) c.13925C>G (p.Ala4642Gly) c.13841C>G (p.Ala4614Gly) | |
19 | g.38572200C>T | CA405681172 | RYR1 | c.864C>T c.2261C>T c.2233C>T c.13928C>T (p.Ala4643Val) c.13913C>T (p.Ala4638Val) c.13910C>T (p.Ala4637Val) c.388C>T c.13895C>T (p.Ala4632Val) c.13925C>T (p.Ala4642Val) c.13841C>T (p.Ala4614Val) | ClinVar |
19 | g.38572201C>A | CA507356162 | RYR1 | c.865C>A c.2262C>A c.2234C>A c.13929C>A (p.Ala4643=) c.13914C>A (p.Ala4638=) c.13911C>A (p.Ala4637=) c.389C>A c.13896C>A (p.Ala4632=) c.13926C>A (p.Ala4642=) c.13842C>A (p.Ala4614=) | |
19 | g.38572201C>G | CA507356163 | RYR1 | c.865C>G c.2262C>G c.2234C>G c.13929C>G (p.Ala4643=) c.13914C>G (p.Ala4638=) c.13911C>G (p.Ala4637=) c.389C>G c.13896C>G (p.Ala4632=) c.13926C>G (p.Ala4642=) c.13842C>G (p.Ala4614=) | |
19 | g.38572201C>T | CA081034 | RYR1 | c.865C>T c.2262C>T c.2234C>T c.13929C>T (p.Ala4643=) c.13914C>T (p.Ala4638=) c.13911C>T (p.Ala4637=) c.389C>T c.13896C>T (p.Ala4632=) c.13926C>T (p.Ala4642=) c.13842C>T (p.Ala4614=) | |
19 | g.38572202C>A | CA405681175 | RYR1 | c.866C>A c.2263C>A c.2235C>A c.13930C>A (p.Leu4644Met) c.13915C>A (p.Leu4639Met) c.13912C>A (p.Leu4638Met) c.390C>A c.13897C>A (p.Leu4633Met) c.13927C>A (p.Leu4643Met) c.13843C>A (p.Leu4615Met) | ClinVar |
19 | g.38572202C= | CA2335088442 | RYR1 | c.866C= c.2263C= c.2235C= c.13930C= (p.Leu4644=) c.13915C= (p.Leu4639=) c.13912C= (p.Leu4638=) c.390C= c.13897C= (p.Leu4633=) c.13927C= (p.Leu4643=) c.13843C= (p.Leu4615=) | |
19 | g.38572202C>G | CA405681177 | RYR1 | c.866C>G c.2263C>G c.2235C>G c.13930C>G (p.Leu4644Val) c.13915C>G (p.Leu4639Val) c.13912C>G (p.Leu4638Val) c.390C>G c.13897C>G (p.Leu4633Val) c.13927C>G (p.Leu4643Val) c.13843C>G (p.Leu4615Val) | |
19 | g.38572202C>T | CA507356164 | RYR1 | c.866C>T c.2263C>T c.2235C>T c.13930C>T (p.Leu4644=) c.13915C>T (p.Leu4639=) c.13912C>T (p.Leu4638=) c.390C>T c.13897C>T (p.Leu4633=) c.13927C>T (p.Leu4643=) c.13843C>T (p.Leu4615=) | ClinVar dbSNP |
19 | g.38572203del | CA2584910040 | RYR1 | c.867del c.2264del c.2236del c.13931del (p.Leu4644ArgfsTer4) c.13916del (p.Leu4639ArgfsTer4) c.13913del (p.Leu4638ArgfsTer4) c.391del c.13898del (p.Leu4633ArgfsTer4) c.13928del (p.Leu4643ArgfsTer4) c.13844del (p.Leu4615ArgfsTer4) | gnomAD v4 |
19 | g.38572203T>A | CA405681180 | RYR1 | c.867T>A c.2264T>A c.2236T>A c.13931T>A (p.Leu4644Gln) c.13916T>A (p.Leu4639Gln) c.13913T>A (p.Leu4638Gln) c.391T>A c.13898T>A (p.Leu4633Gln) c.13928T>A (p.Leu4643Gln) c.13844T>A (p.Leu4615Gln) | |
19 | g.38572203T>C | CA405681183 | RYR1 | c.867T>C c.2264T>C c.2236T>C c.13931T>C (p.Leu4644Pro) c.13916T>C (p.Leu4639Pro) c.13913T>C (p.Leu4638Pro) c.391T>C c.13898T>C (p.Leu4633Pro) c.13928T>C (p.Leu4643Pro) c.13844T>C (p.Leu4615Pro) | ClinVar dbSNP |
19 | g.38572203T>G | CA405681186 | RYR1 | c.867T>G c.2264T>G c.2236T>G c.13931T>G (p.Leu4644Arg) c.13916T>G (p.Leu4639Arg) c.13913T>G (p.Leu4638Arg) c.391T>G c.13898T>G (p.Leu4633Arg) c.13928T>G (p.Leu4643Arg) c.13844T>G (p.Leu4615Arg) | COSMIC |
19 | g.38572203T= | CA2335088443 | RYR1 | c.867T= c.2264T= c.2236T= c.13931T= (p.Leu4644=) c.13916T= (p.Leu4639=) c.13913T= (p.Leu4638=) c.391T= c.13898T= (p.Leu4633=) c.13928T= (p.Leu4643=) c.13844T= (p.Leu4615=) | |
19 | g.38572204G>A | CA507356165 | RYR1 | c.868G>A c.2265G>A c.2237G>A c.13932G>A (p.Leu4644=) c.13917G>A (p.Leu4639=) c.13914G>A (p.Leu4638=) c.392G>A c.13899G>A (p.Leu4633=) c.13929G>A (p.Leu4643=) c.13845G>A (p.Leu4615=) | |
19 | g.38572204G>C | CA507356167 | RYR1 | c.868G>C c.2265G>C c.2237G>C c.13932G>C (p.Leu4644=) c.13917G>C (p.Leu4639=) c.13914G>C (p.Leu4638=) c.392G>C c.13899G>C (p.Leu4633=) c.13929G>C (p.Leu4643=) c.13845G>C (p.Leu4615=) | |
19 | g.38572204G= | CA2335088444 | RYR1 | c.868G= c.2265G= c.2237G= c.13932G= (p.Leu4644=) c.13917G= (p.Leu4639=) c.13914G= (p.Leu4638=) c.392G= c.13899G= (p.Leu4633=) c.13929G= (p.Leu4643=) c.13845G= (p.Leu4615=) | |
19 | g.38572204G>T | CA060663 | RYR1 | c.868G>T c.2265G>T c.2237G>T c.13932G>T (p.Leu4644=) c.13917G>T (p.Leu4639=) c.13914G>T (p.Leu4638=) c.392G>T c.13899G>T (p.Leu4633=) c.13929G>T (p.Leu4643=) c.13845G>T (p.Leu4615=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38572205C>A | CA507356168 | RYR1 | c.869C>A c.2266C>A c.2238C>A c.13933C>A (p.Arg4645=) c.13918C>A (p.Arg4640=) c.13915C>A (p.Arg4639=) c.393C>A c.13900C>A (p.Arg4634=) c.13930C>A (p.Arg4644=) c.13846C>A (p.Arg4616=) | |
19 | g.38572205C= | CA2335088445 | RYR1 | c.869C= c.2266C= c.2238C= c.13933C= (p.Arg4645=) c.13918C= (p.Arg4640=) c.13915C= (p.Arg4639=) c.393C= c.13900C= (p.Arg4634=) c.13930C= (p.Arg4644=) c.13846C= (p.Arg4616=) | |
19 | g.38572205C>G | CA405681191 | RYR1 | c.869C>G c.2266C>G c.2238C>G c.13933C>G (p.Arg4645Gly) c.13918C>G (p.Arg4640Gly) c.13915C>G (p.Arg4639Gly) c.393C>G c.13900C>G (p.Arg4634Gly) c.13930C>G (p.Arg4644Gly) c.13846C>G (p.Arg4616Gly) | ClinVar dbSNP |
19 | g.38572205C>T | CA060666 | RYR1 | c.869C>T c.2266C>T c.2238C>T c.13933C>T (p.Arg4645Trp) c.13918C>T (p.Arg4640Trp) c.13915C>T (p.Arg4639Trp) c.393C>T c.13900C>T (p.Arg4634Trp) c.13930C>T (p.Arg4644Trp) c.13846C>T (p.Arg4616Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38572206G>A | CA024086 | RYR1 | c.870G>A c.2267G>A c.2239G>A c.13934G>A (p.Arg4645Gln) c.13919G>A (p.Arg4640Gln) c.13916G>A (p.Arg4639Gln) c.394G>A c.13901G>A (p.Arg4634Gln) c.13931G>A (p.Arg4644Gln) c.13847G>A (p.Arg4616Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38572206G>C | CA405681193 | RYR1 | c.870G>C c.2267G>C c.2239G>C c.13934G>C (p.Arg4645Pro) c.13919G>C (p.Arg4640Pro) c.13916G>C (p.Arg4639Pro) c.394G>C c.13901G>C (p.Arg4634Pro) c.13931G>C (p.Arg4644Pro) c.13847G>C (p.Arg4616Pro) | ClinVar dbSNP |
19 | g.38572206G= | CA2335088446 | RYR1 | c.870G= c.2267G= c.2239G= c.13934G= (p.Arg4645=) c.13919G= (p.Arg4640=) c.13916G= (p.Arg4639=) c.394G= c.13901G= (p.Arg4634=) c.13931G= (p.Arg4644=) c.13847G= (p.Arg4616=) | |
19 | g.38572206G>T | CA405681198 | RYR1 | c.870G>T c.2267G>T c.2239G>T c.13934G>T (p.Arg4645Leu) c.13919G>T (p.Arg4640Leu) c.13916G>T (p.Arg4639Leu) c.394G>T c.13901G>T (p.Arg4634Leu) c.13931G>T (p.Arg4644Leu) c.13847G>T (p.Arg4616Leu) | |
19 | g.38572207G>A | CA507356173 | RYR1 | c.871G>A c.2268G>A c.2240G>A c.13935G>A (p.Arg4645=) c.13920G>A (p.Arg4640=) c.13917G>A (p.Arg4639=) c.395G>A c.13902G>A (p.Arg4634=) c.13932G>A (p.Arg4644=) c.13848G>A (p.Arg4616=) | |
19 | g.38572207G>C | CA507356171 | RYR1 | c.871G>C c.2268G>C c.2240G>C c.13935G>C (p.Arg4645=) c.13920G>C (p.Arg4640=) c.13917G>C (p.Arg4639=) c.395G>C c.13902G>C (p.Arg4634=) c.13932G>C (p.Arg4644=) c.13848G>C (p.Arg4616=) | |
19 | g.38572207G>T | CA081036 | RYR1 | c.871G>T c.2268G>T c.2240G>T c.13935G>T (p.Arg4645=) c.13920G>T (p.Arg4640=) c.13917G>T (p.Arg4639=) c.395G>T c.13902G>T (p.Arg4634=) c.13932G>T (p.Arg4644=) c.13848G>T (p.Arg4616=) | |
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) |