| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.72060409T>C | CA126032 | HP,TXNL4B | c.740T>C (p.Ile247Thr) c.365T>C (p.Ile122Thr) c.848T>C (p.Ile283Thr) c.563T>C (p.Ile188Thr) c.285-16052A>G (n.285-16052A>G) c.266-254T>C (n.266-254T>C) c.443T>C (p.Ile148Thr) n.2379T>C c.732T>C c.615T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.72060409T>A | CA396677590 | HP,TXNL4B | c.740T>A (p.Ile247Asn) c.365T>A (p.Ile122Asn) c.848T>A (p.Ile283Asn) c.563T>A (p.Ile188Asn) c.285-16052A>T (n.285-16052A>T) c.266-254T>A (n.266-254T>A) c.443T>A (p.Ile148Asn) n.2379T>A c.732T>A c.615T>A | dbSNP gnomAD v4 |
| 16 | g.72060409T= | CA2231555248 | HP,TXNL4B | c.740T= (p.Ile247=) c.365T= (p.Ile122=) c.848T= (p.Ile283=) c.563T= (p.Ile188=) c.285-16052A= (n.285-16052A=) c.266-254T= (n.266-254T=) c.443T= (p.Ile148=) n.2379T= c.732T= c.615T= | dbSNP |