| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.40441116C>T | CA6515441 | MUC19 | c.3677C>T (p.Ser1226Phe) n.3723C>T n.74+2707G>A n.35G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40441116C>A | CA479265178 | MUC19 | c.3677C>A (p.Ser1226Tyr) n.3723C>A n.74+2707G>T n.35G>T | dbSNP |
| 12 | g.40441116C= | CA2031042217 | MUC19 | c.3677C= (p.Ser1226=) n.3723C= n.74+2707G= n.35G= | dbSNP |