| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.115732900C>A | CA341768922 | CASQ2 | c.330+1G>T (n.330+1G>T) c.606+1G>T (n.606+1G>T) n.27+1G>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115732900C= | CA1190726912 | CASQ2 | c.330+1G= (n.330+1G=) c.606+1G= (n.606+1G=) n.27+1G= | |
| 1 | g.115732900C>G | CA301900 | CASQ2 | c.330+1G>C (n.330+1G>C) c.606+1G>C (n.606+1G>C) n.27+1G>C | ClinVar dbSNP |
| 1 | g.115732900C>T | CA341768923 | CASQ2 | c.330+1G>A (n.330+1G>A) c.606+1G>A (n.606+1G>A) n.27+1G>A | |
| 1 | g.115732901C>A | CA419896034 | CASQ2 | c.330G>T (p.Gly110=) c.606G>T (p.Gly202=) n.27G>T | |
| 1 | g.115732901C= | CA1190726913 | CASQ2 | c.330G= (p.Gly110=) c.606G= (p.Gly202=) n.27G= | |
| 1 | g.115732901C>G | CA419896033 | CASQ2 | c.330G>C (p.Gly110=) c.606G>C (p.Gly202=) n.27G>C | |
| 1 | g.115732901C>T | CA419896032 | CASQ2 | c.330G>A (p.Gly110=) c.606G>A (p.Gly202=) n.27G>A | ClinVar dbSNP |
| 1 | g.115732902C>A | CA341768924 | CASQ2 | c.329G>T (p.Gly110Val) c.605G>T (p.Gly202Val) n.26G>T | |
| 1 | g.115732902C= | CA1190726914 | CASQ2 | c.329G= (p.Gly110=) c.605G= (p.Gly202=) n.26G= | |
| 1 | g.115732902C>G | CA1023858 | CASQ2 | c.329G>C (p.Gly110Ala) c.605G>C (p.Gly202Ala) n.26G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115732902C>T | CA341768925 | CASQ2 | c.329G>A (p.Gly110Glu) c.605G>A (p.Gly202Glu) n.26G>A | gnomAD v4 |
| 1 | g.115732903C>A | CA341768926 | CASQ2 | c.328G>T (p.Gly110Trp) c.604G>T (p.Gly202Trp) n.25G>T | dbSNP |
| 1 | g.115732903C= | CA1190726915 | CASQ2 | c.328G= (p.Gly110=) c.604G= (p.Gly202=) n.25G= | |
| 1 | g.115732903C>G | CA341768928 | CASQ2 | c.328G>C (p.Gly110Arg) c.604G>C (p.Gly202Arg) n.25G>C | gnomAD v4 |
| 1 | g.115732903C>T | CA341768927 | CASQ2 | c.328G>A (p.Gly110Arg) c.604G>A (p.Gly202Arg) n.25G>A | dbSNP gnomAD v4 |
| 1 | g.115732904T>A | CA341768929 | CASQ2 | c.327A>T (p.Lys109Asn) c.603A>T (p.Lys201Asn) n.24A>T | |
| 1 | g.115732904T>C | CA419896035 | CASQ2 | c.327A>G (p.Lys109=) c.603A>G (p.Lys201=) n.24A>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.115732904T>G | CA341768930 | CASQ2 | c.327A>C (p.Lys109Asn) c.603A>C (p.Lys201Asn) n.24A>C | |
| 1 | g.115732904T= | CA1190726916 | CASQ2 | c.327A= (p.Lys109=) c.603A= (p.Lys201=) n.24A= | |
| 1 | g.115732906del | CA1139770956 | CASQ2 | c.327del (p.Val111CysfsTer7) c.603del (p.Val203LeufsTer7) n.24del | gnomAD v4 |
| 1 | g.115732905T>A | CA341768931 | CASQ2 | c.326A>T (p.Lys109Ile) c.602A>T (p.Lys201Ile) n.23A>T | |
| 1 | g.115732905T>C | CA341768932 | CASQ2 | c.326A>G (p.Lys109Arg) c.602A>G (p.Lys201Arg) n.23A>G | |
| 1 | g.115732905T>G | CA341768933 | CASQ2 | c.326A>C (p.Lys109Thr) c.602A>C (p.Lys201Thr) n.23A>C | |
| 1 | g.115732906T>A | CA341768934 | CASQ2 | c.325A>T (p.Lys109Ter) c.601A>T (p.Lys201Ter) n.22A>T | |
| 1 | g.115732906T>C | CA341768935 | CASQ2 | c.325A>G (p.Lys109Glu) c.601A>G (p.Lys201Glu) n.22A>G | |
| 1 | g.115732906T>G | CA341768936 | CASQ2 | c.325A>C (p.Lys109Gln) c.601A>C (p.Lys201Gln) n.22A>C | |
| 1 | g.115732907G>A | CA419896036 | CASQ2 | c.324C>T (p.Asp108=) c.600C>T (p.Asp200=) n.21C>T | |
| 1 | g.115732907G>C | CA341768937 | CASQ2 | c.324C>G (p.Asp108Glu) c.600C>G (p.Asp200Glu) n.21C>G | ClinVar |
| 1 | g.115732907G>T | CA341768938 | CASQ2 | c.324C>A (p.Asp108Glu) c.600C>A (p.Asp200Glu) n.21C>A | gnomAD v4 |
| 1 | g.115732908T>A | CA341768941 | CASQ2 | c.323A>T (p.Asp108Val) c.599A>T (p.Asp200Val) n.20A>T | gnomAD v4 |
| 1 | g.115732908T>C | CA341768942 | CASQ2 | c.323A>G (p.Asp108Gly) c.599A>G (p.Asp200Gly) n.20A>G | dbSNP |
| 1 | g.115732908T>G | CA341768940 | CASQ2 | c.323A>C (p.Asp108Ala) c.599A>C (p.Asp200Ala) n.20A>C | |
| 1 | g.115732908T= | CA1190726917 | CASQ2 | c.323A= (p.Asp108=) c.599A= (p.Asp200=) n.20A= | |
| 1 | g.115732909C>A | CA341768943 | CASQ2 | c.322G>T (p.Asp108Tyr) c.598G>T (p.Asp200Tyr) n.19G>T | |
| 1 | g.115732909C>G | CA341768944 | CASQ2 | c.322G>C (p.Asp108His) c.598G>C (p.Asp200His) n.19G>C | |
| 1 | g.115732909C>T | CA341768945 | CASQ2 | c.322G>A (p.Asp108Asn) c.598G>A (p.Asp200Asn) n.19G>A | |
| 1 | g.115732910A>C | CA341768946 | CASQ2 | c.321T>G (p.Phe107Leu) c.597T>G (p.Phe199Leu) n.18T>G | |
| 1 | g.115732910A>G | CA419896037 | CASQ2 | c.321T>C (p.Phe107=) c.597T>C (p.Phe199=) n.18T>C | |
| 1 | g.115732910A>T | CA341768947 | CASQ2 | c.321T>A (p.Phe107Leu) c.597T>A (p.Phe199Leu) n.18T>A | |
| 1 | g.115732911A>C | CA341768948 | CASQ2 | c.320T>G (p.Phe107Cys) c.596T>G (p.Phe199Cys) n.17T>G | |
| 1 | g.115732911A>G | CA341768949 | CASQ2 | c.320T>C (p.Phe107Ser) c.596T>C (p.Phe199Ser) n.17T>C | gnomAD v4 |
| 1 | g.115732911A>T | CA341768950 | CASQ2 | c.320T>A (p.Phe107Tyr) c.596T>A (p.Phe199Tyr) n.17T>A | |
| 1 | g.115732912A>C | CA341768951 | CASQ2 | c.319T>G (p.Phe107Val) c.595T>G (p.Phe199Val) n.16T>G | gnomAD v4 |
| 1 | g.115732912A>G | CA341768952 | CASQ2 | c.319T>C (p.Phe107Leu) c.595T>C (p.Phe199Leu) n.16T>C | |
| 1 | g.115732912A>T | CA341768953 | CASQ2 | c.319T>A (p.Phe107Ile) c.595T>A (p.Phe199Ile) n.16T>A | |
| 1 | g.115732913G>A | CA419896038 | CASQ2 | c.318C>T (p.Thr106=) c.594C>T (p.Thr198=) n.15C>T | |
| 1 | g.115732913G>C | CA1023859 | CASQ2 | c.318C>G (p.Thr106=) c.594C>G (p.Thr198=) n.15C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115732913G= | CA1190726918 | CASQ2 | c.318C= (p.Thr106=) c.594C= (p.Thr198=) n.15C= | |
| 1 | g.115732913G>T | CA419896039 | CASQ2 | c.318C>A (p.Thr106=) c.594C>A (p.Thr198=) n.15C>A |