| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.8781360T>C | CA175088 | ABAT,TMEM186 | c.1433T>C (p.Leu478Pro) n.116A>G c.*1173T>C (n.*1173T>C) c.1478T>C (p.Leu493Pro) c.1492T>C (p.Trp498Arg) c.1394T>C (p.Leu465Pro) c.1370T>C (p.Leu457Pro) c.1340T>C (p.Leu447Pro) c.1321T>C (p.Trp441Arg) c.1298T>C (p.Leu433Pro) c.1235T>C (p.Leu412Pro) c.1187T>C (p.Leu396Pro) c.1529T>C (p.Leu510Pro) | ClinVar dbSNP |
| 16 | g.8781360T= | CA2206119240 | ABAT,TMEM186 | c.1433T= (p.Leu478=) n.116A= c.*1173T= (n.*1173T=) c.1478T= (p.Leu493=) c.1492T= (p.Trp498=) c.1394T= (p.Leu465=) c.1370T= (p.Leu457=) c.1340T= (p.Leu447=) c.1321T= (p.Trp441=) c.1298T= (p.Leu433=) c.1235T= (p.Leu412=) c.1187T= (p.Leu396=) c.1529T= (p.Leu510=) | dbSNP |