| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.43505684T>C | CA1632546 | THADA | c.3559A>G (p.Thr1187Ala) c.*2657A>G (n.*2657A>G) c.2097A>G (n.2097A>G) c.1500A>G c.*2654A>G (n.*2654A>G) n.158A>G n.3691A>G c.3556A>G (p.Thr1186Ala) c.3439A>G (p.Thr1147Ala) c.3196A>G (p.Thr1066Ala) c.3193A>G (p.Thr1065Ala) c.1108A>G (p.Thr370Ala) c.871A>G (p.Thr291Ala) c.3436A>G (p.Thr1146Ala) n.3699A>G n.3683A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.43505684T= | CA2493763299 | THADA | c.3559A= (p.Thr1187=) c.*2657A= (n.*2657A=) c.2097A= (n.2097A=) c.1500A= c.*2654A= (n.*2654A=) n.158A= n.3691A= c.3556A= (p.Thr1186=) c.3439A= (p.Thr1147=) c.3196A= (p.Thr1066=) c.3193A= (p.Thr1065=) c.1108A= (p.Thr370=) c.871A= (p.Thr291=) c.3436A= (p.Thr1146=) n.3699A= n.3683A= | dbSNP |