| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3738616C>G | CA394564427 | CREBBP | c.4337G>C (p.Arg1446Pro) c.4223G>C (p.Arg1408Pro) c.2972G>C (p.Arg991Pro) n.215+1783G>C n.3217+962G>C c.4292G>C (p.Arg1431Pro) c.3920G>C (p.Arg1307Pro) c.4133+1783G>C (n.4133+1783G>C) c.4283G>C (p.Arg1428Pro) c.3584G>C (p.Arg1195Pro) c.4331G>C (p.Arg1444Pro) | dbSNP |
| 16 | g.3738616C>T | CA16602826 | CREBBP | c.4337G>A (p.Arg1446His) c.4223G>A (p.Arg1408His) c.2972G>A (p.Arg991His) n.215+1783G>A n.3217+962G>A c.4292G>A (p.Arg1431His) c.3920G>A (p.Arg1307His) c.4133+1783G>A (n.4133+1783G>A) c.4283G>A (p.Arg1428His) c.3584G>A (p.Arg1195His) c.4331G>A (p.Arg1444His) | ClinVar dbSNP gnomAD v4 COSMIC |
| 16 | g.3738616C>A | CA16602825 | CREBBP | c.4337G>T (p.Arg1446Leu) c.4223G>T (p.Arg1408Leu) c.2972G>T (p.Arg991Leu) n.215+1783G>T n.3217+962G>T c.4292G>T (p.Arg1431Leu) c.3920G>T (p.Arg1307Leu) c.4133+1783G>T (n.4133+1783G>T) c.4283G>T (p.Arg1428Leu) c.3584G>T (p.Arg1195Leu) c.4331G>T (p.Arg1444Leu) | ClinVar dbSNP COSMIC |