| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.72060463T>C | CA283640970 | HP,TXNL4B | c.794T>C (p.Ile265Thr) c.419T>C (p.Ile140Thr) c.902T>C (p.Ile301Thr) c.617T>C (p.Ile206Thr) c.285-16106A>G (n.285-16106A>G) c.266-200T>C (n.266-200T>C) c.497T>C (p.Ile166Thr) n.2433T>C c.786T>C c.669T>C | dbSNP |
| 16 | g.72060463T= | CA2231555280 | HP,TXNL4B | c.794T= (p.Ile265=) c.419T= (p.Ile140=) c.902T= (p.Ile301=) c.617T= (p.Ile206=) c.285-16106A= (n.285-16106A=) c.266-200T= (n.266-200T=) c.497T= (p.Ile166=) n.2433T= c.786T= c.669T= | dbSNP |