| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.501900C>G | CA402893980 | MADCAM1,MADCAM1-AS1 | c.899C>G (p.Pro300Arg) c.668-2845C>G (n.668-2845C>G) c.383-2845C>G (n.383-2845C>G) c.242C>G (p.Pro81Arg) c.971C>G (p.Pro324Arg) c.953C>G (p.Pro318Arg) c.947C>G (p.Pro316Arg) c.923C>G (p.Pro308Arg) n.85-276G>C n.88-276G>C | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.501900C>A | CA9016460 | MADCAM1,MADCAM1-AS1 | c.899C>A (p.Pro300His) c.668-2845C>A (n.668-2845C>A) c.383-2845C>A (n.383-2845C>A) c.242C>A (p.Pro81His) c.971C>A (p.Pro324His) c.953C>A (p.Pro318His) c.947C>A (p.Pro316His) c.923C>A (p.Pro308His) n.85-276G>T n.88-276G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.501900C= | CA2317137918 | MADCAM1,MADCAM1-AS1 | c.899C= (p.Pro300=) c.668-2845C= (n.668-2845C=) c.383-2845C= (n.383-2845C=) c.242C= (p.Pro81=) c.971C= (p.Pro324=) c.953C= (p.Pro318=) c.947C= (p.Pro316=) c.923C= (p.Pro308=) n.85-276G= n.88-276G= | dbSNP |