| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.110875293C>A | CA10683620 | CD53 | c.-18+2045C>A (n.-18+2045C>A) n.66+2045C>A c.-894+2045C>A (n.-894+2045C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.110875293C= | CA1139970258 | CD53 | c.-18+2045C= (n.-18+2045C=) n.66+2045C= c.-894+2045C= (n.-894+2045C=) | dbSNP |