| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67490807C>T | CA344196 | AIP | c.1114C>T c.618C>T (p.Phe206=) n.1649C>T c.469-190C>T (n.469-190C>T) c.438C>T (p.Phe146=) c.807C>T (p.Phe269=) c.799C>T (p.Gln267Ter) c.630C>T (p.Phe210=) c.796C>T (p.Gln266Ter) c.627C>T (p.Phe209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490807C= | CA1980172644 | AIP | c.1114C= c.618C= (p.Phe206=) n.1649C= c.469-190C= (n.469-190C=) c.438C= (p.Phe146=) c.807C= (p.Phe269=) c.799C= (p.Gln267=) c.630C= (p.Phe210=) c.796C= (p.Gln266=) c.627C= (p.Phe209=) | dbSNP |
| 11 | g.67490807C>A | CA381554448 | AIP | c.1114C>A c.618C>A (p.Phe206Leu) n.1649C>A c.469-190C>A (n.469-190C>A) c.438C>A (p.Phe146Leu) c.807C>A (p.Phe269Leu) c.799C>A (p.Gln267Lys) c.630C>A (p.Phe210Leu) c.796C>A (p.Gln266Lys) c.627C>A (p.Phe209Leu) | ClinVar dbSNP |
| 11 | g.67490807C>G | CA381554445 | AIP | c.1114C>G c.618C>G (p.Phe206Leu) n.1649C>G c.469-190C>G (n.469-190C>G) c.438C>G (p.Phe146Leu) c.807C>G (p.Phe269Leu) c.799C>G (p.Gln267Glu) c.630C>G (p.Phe210Leu) c.796C>G (p.Gln266Glu) c.627C>G (p.Phe209Leu) | ClinVar dbSNP COSMIC |