Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.70600460G>C | CA16605904 | PALD1,PRF1 | c.*17+1376G>C (n.*17+1376G>C) c.2250+35941G>C (n.2250+35941G>C) n.2919+1376G>C n.2763+1376G>C c.443C>G (p.Ala148Gly) n.97+2185C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.70600460G>T | CA5539034 | PALD1,PRF1 | c.*17+1376G>T (n.*17+1376G>T) c.2250+35941G>T (n.2250+35941G>T) n.2919+1376G>T n.2763+1376G>T c.443C>A (p.Ala148Asp) n.97+2185C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |