| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.118511963C>G | CA208829 | KMT2A,TTC36-AS1 | c.11183C>G (p.Ser3728Ter) c.11174C>G (p.Ser3725Ter) c.5100C>G (n.5100C>G) c.5042C>G (p.Ser1681Ter) c.5144C>G (p.Ser1715Ter) c.184C>G c.11156C>G (p.Ser3719Ter) c.11075C>G (p.Ser3692Ter) n.584C>G c.11084C>G (p.Ser3695Ter) n.542C>G n.320C>G c.10961C>G (p.Ser3654Ter) c.408C>G (n.408C>G) n.186C>G n.459G>C c.8567C>G (p.Ser2856Ter) c.11180C>G (p.Ser3727Ter) c.8990C>G (p.Ser2997Ter) c.8666C>G (p.Ser2889Ter) | ClinVar dbSNP |
| 11 | g.118511963C>T | CA6304904 | KMT2A,TTC36-AS1 | c.11183C>T (p.Ser3728Leu) c.11174C>T (p.Ser3725Leu) c.5100C>T (n.5100C>T) c.5042C>T (p.Ser1681Leu) c.5144C>T (p.Ser1715Leu) c.184C>T c.11156C>T (p.Ser3719Leu) c.11075C>T (p.Ser3692Leu) n.584C>T c.11084C>T (p.Ser3695Leu) n.542C>T n.320C>T c.10961C>T (p.Ser3654Leu) c.408C>T (n.408C>T) n.186C>T n.459G>A c.8567C>T (p.Ser2856Leu) c.11180C>T (p.Ser3727Leu) c.8990C>T (p.Ser2997Leu) c.8666C>T (p.Ser2889Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |