| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.6870676C>T | CA4612751 | DEFB1 | c.*5G>A (n.*5G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6870676C>A | CA2580794840 | DEFB1 | c.*5G>T (n.*5G>T) | dbSNP gnomAD v4 |
| 8 | g.6870676C= | CA1761183466 | DEFB1 | c.*5G= (n.*5G=) | dbSNP |
| 8 | g.6870676C>G | CA2580794839 | DEFB1 | c.*5G>C (n.*5G>C) | dbSNP gnomAD v4 |