| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101757236A>G | CA386293161 | GNPTAB | c.3410T>C (p.Leu1137Ser) n.276T>C c.161T>C (p.Leu54Ser) c.222T>C c.3329T>C (p.Leu1110Ser) c.3194T>C (p.Leu1065Ser) c.2183T>C (p.Leu728Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101757236A>T | CA343397 | GNPTAB | c.3410T>A (p.Leu1137Ter) n.276T>A c.161T>A (p.Leu54Ter) c.222T>A c.3329T>A (p.Leu1110Ter) c.3194T>A (p.Leu1065Ter) c.2183T>A (p.Leu728Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |