| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.50561052_50561053del | CA158236667 | DDC | c.-29+4241_-29+4242del (n.-29+4241_-29+4242del) c.-59_-58del (n.-59_-58del) c.-29+2951_-29+2952del (n.-29+2951_-29+2952del) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.50561050_50561053dup | CA2714132696 | DDC | c.-29+4239_-29+4242dup (n.-29+4239_-29+4242dup) c.-61_-58dup (n.-61_-58dup) c.-29+2949_-29+2952dup (n.-29+2949_-29+2952dup) | dbSNP |
| 7 | g.50561050_50561053del | CA10629327 | DDC | c.-29+4239_-29+4242del (n.-29+4239_-29+4242del) c.-61_-58del (n.-61_-58del) c.-29+2949_-29+2952del (n.-29+2949_-29+2952del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |