| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13235685G>A | CA266053 | CACNA1A | c.4996C>T (p.Arg1666Trp) c.5002C>T (p.Arg1668Trp) c.415C>T n.220C>T c.157C>T (p.Arg53Trp) n.201C>T c.4999C>T (p.Arg1667Trp) n.985C>T c.311C>T c.5005C>T (p.Arg1669Trp) c.292C>T (p.Arg98Trp) c.5014C>T (p.Arg1672Trp) c.4858C>T (p.Arg1620Trp) c.256C>T n.389C>T c.400C>T (p.Arg134Trp) c.5200C>T (p.Arg1734Trp) c.1054C>T (p.Arg352Trp) c.457C>T (p.Arg153Trp) | ClinVar dbSNP gnomAD v4 |
| 19 | g.13235685G>T | CA505658794 | CACNA1A | c.4996C>A (p.Arg1666=) c.5002C>A (p.Arg1668=) c.415C>A n.220C>A c.157C>A (p.Arg53=) n.201C>A c.4999C>A (p.Arg1667=) n.985C>A c.311C>A c.5005C>A (p.Arg1669=) c.292C>A (p.Arg98=) c.5014C>A (p.Arg1672=) c.4858C>A (p.Arg1620=) c.256C>A n.389C>A c.400C>A (p.Arg134=) c.5200C>A (p.Arg1734=) c.1054C>A (p.Arg352=) c.457C>A (p.Arg153=) | dbSNP gnomAD v4 |
| 19 | g.13235685G>C | CA404336907 | CACNA1A | c.4996C>G (p.Arg1666Gly) c.5002C>G (p.Arg1668Gly) c.415C>G n.220C>G c.157C>G (p.Arg53Gly) n.201C>G c.4999C>G (p.Arg1667Gly) n.985C>G c.311C>G c.5005C>G (p.Arg1669Gly) c.292C>G (p.Arg98Gly) c.5014C>G (p.Arg1672Gly) c.4858C>G (p.Arg1620Gly) c.256C>G n.389C>G c.400C>G (p.Arg134Gly) c.5200C>G (p.Arg1734Gly) c.1054C>G (p.Arg352Gly) c.457C>G (p.Arg153Gly) | dbSNP |
| 19 | g.13235685G= | CA2323795782 | CACNA1A | c.4996C= (p.Arg1666=) c.5002C= (p.Arg1668=) c.415C= n.220C= c.157C= (p.Arg53=) n.201C= c.4999C= (p.Arg1667=) n.985C= c.311C= c.5005C= (p.Arg1669=) c.292C= (p.Arg98=) c.5014C= (p.Arg1672=) c.4858C= (p.Arg1620=) c.256C= n.389C= c.400C= (p.Arg134=) c.5200C= (p.Arg1734=) c.1054C= (p.Arg352=) c.457C= (p.Arg153=) | dbSNP |