| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101790019C>A | CA343374 | GNPTAB | c.242G>T (p.Trp81Leu) n.36G>T c.161G>T (p.Trp54Leu) c.26G>T (p.Trp9Leu) c.-1109G>T (n.-1109G>T) | ClinVar dbSNP |
| 12 | g.101790019C= | CA2058966567 | GNPTAB | c.242G= (p.Trp81=) n.36G= c.161G= (p.Trp54=) c.26G= (p.Trp9=) c.-1109G= (n.-1109G=) | dbSNP |