| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.19968169C>A | CA322122362 | ARVCF,COMT | c.616-367C>A (p.=) c.466-367C>A (p.=) c.2764-960G>T (p.=) c.2782-960G>T (p.=) c.2536-960G>T (p.=) c.730-367C>A (p.=) c.2749-960G>T (p.=) c.1348-960G>T (p.=) c.1027-367C>A (p.=) c.*74-367C>A (p.=) | dbSNP gnomAD |
| 22 | g.19968169C>T | CA16003124 | ARVCF,COMT | c.616-367C>T (p.=) c.466-367C>T (p.=) c.2764-960G>A (p.=) c.2782-960G>A (p.=) c.2536-960G>A (p.=) c.730-367C>T (p.=) c.2749-960G>A (p.=) c.1348-960G>A (p.=) c.1027-367C>T (p.=) c.*74-367C>T (p.=) | dbSNP gnomAD |