| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.37952931C>G | CA409969996 | DSCR4,KCNJ6 | c.-27-112222G>C (n.-27-112222G>C) c.305G>C (p.Ser102Thr) | dbSNP gnomAD v4 |
| 21 | g.37952931C>T | CA10024399 | DSCR4,KCNJ6 | c.-27-112222G>A (n.-27-112222G>A) c.305G>A (p.Ser102Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.37952931C>A | CA409969995 | DSCR4,KCNJ6 | c.-27-112222G>T (n.-27-112222G>T) c.305G>T (p.Ser102Ile) | dbSNP |