| Genename | Variants |
|---|---|
| CASR(NM_001178065,calcium-sensing receptor,1088aa) | g.3:122003769A>G,c.2998A>G,p.R1000G |
| CASR(NM_001178065,calcium-sensing receptor,1088aa) | g.3:122003757G>T,c.2986G>T,p.A996S |
| CASR(NM_001178065,calcium-sensing receptor,1088aa) | g.3:122003625G>A,c.2854G>A,p.E952K |
| CASR(NM_001178065,calcium-sensing receptor,1088aa) | g.3:122002576A>G,c.1805A>G,p.N602S |
| CASR(NM_001178065,calcium-sensing receptor,1088aa) | g.3:122000982G>A,c.1661G>A,p.R554Q |
| CASR(NM_001178065,calcium-sensing receptor,1088aa) | g.3:121994806G>A,c.1525G>A,p.G509R |
| CASR(NM_001178065,calcium-sensing receptor,1088aa) | g.3:121981074G>A,c.1192G>A,p.D398N |
| CASQ2(NM_001232,calsequestrin 2 (cardiac muscle),399aa) | g.1:116310967T>C,c.196A>G,p.T66A |
| CASQ2(NM_001232,calsequestrin 2 (cardiac muscle),399aa) | g.1:116310937C>T,c.226G>A,p.V76M |
| CASQ2(NM_001232,calsequestrin 2 (cardiac muscle),399aa) | g.1:116280896T>G,c.481A>C,p.I161L |
| CASQ2(NM_001232,calsequestrin 2 (cardiac muscle),399aa) | g.1:116269619T>C,c.731A>G,p.H244R |
| CASQ2(NM_001232,calsequestrin 2 (cardiac muscle),399aa) | g.1:116268160C>T,c.752G>A,p.R251H |
| CASQ2(NM_001232,calsequestrin 2 (cardiac muscle),399aa) | g.1:116268154C>T,c.758G>A,p.R253H |
| CASQ2(NM_001232,calsequestrin 2 (cardiac muscle),399aa) | g.1:116247854C>T,c.898G>A,p.D300N |
| CASQ1(NM_001231,calsequestrin 1 (fast-twitch, skeletal muscle),396aa) | g.1:160169705A>G,c.1049A>G,p.N350S |
| CASQ1(NM_001231,calsequestrin 1 (fast-twitch, skeletal muscle),396aa) | g.1:160169695G>T,c.1039G>T,p.G347X |
| CASQ1(NM_001231,calsequestrin 1 (fast-twitch, skeletal muscle),396aa) | g.1:160164851C>T,c.515C>T,p.A172V |
| CASQ1(NM_001231,calsequestrin 1 (fast-twitch, skeletal muscle),396aa) | g.1:160160801T>C,c.260T>C,p.M87T |
| CASQ1(NM_001231,calsequestrin 1 (fast-twitch, skeletal muscle),396aa) | g.1:160160767G>A,c.226G>A,p.E76K |
| CASQ1(NM_001231,calsequestrin 1 (fast-twitch, skeletal muscle),396aa) | g.1:160160671G>A,c.130G>A,p.D44N |
| CASQ1(NM_001231,calsequestrin 1 (fast-twitch, skeletal muscle),396aa) | g.1:160160543T>A,c.2T>A,p.M1K |
| CASP9(NM_001229,caspase 9, apoptosis-related cysteine peptidase,416aa) | g.1:15850613G>A,c.83C>T,p.A28V |
| CASP9(NM_001229,caspase 9, apoptosis-related cysteine peptidase,416aa) | g.1:15844889C>T,c.134G>A,p.R45Q |
| CASP9(NM_001229,caspase 9, apoptosis-related cysteine peptidase,416aa) | g.1:15844718G>A,c.305C>T,p.T102I |
| CASP9(NM_001229,caspase 9, apoptosis-related cysteine peptidase,416aa) | g.1:15833555T>C,c.469A>G,p.M157V |
| CASP9(NM_001229,caspase 9, apoptosis-related cysteine peptidase,416aa) | g.1:15833506C>T,c.518G>A,p.R173H |
| CASP9(NM_001229,caspase 9, apoptosis-related cysteine peptidase,416aa) | g.1:15833449C>T,c.575G>A,p.R192H |
| CASP9(NM_001229,caspase 9, apoptosis-related cysteine peptidase,416aa) | g.1:15832543T>C,c.662A>G,p.Q221R |