| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.230185999A>C | CA2154576 | SP110 | c.665T>G (p.Leu222Trp) c.1274T>G (p.Leu425Trp) c.1124T>G (p.Leu375Trp) n.1415T>G c.1292T>G (p.Leu431Trp) c.1268T>G (p.Leu423Trp) c.1142T>G (p.Leu381Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.230185999A>T | CA350907043 | SP110 | c.665T>A (p.Leu222Ter) c.1274T>A (p.Leu425Ter) c.1124T>A (p.Leu375Ter) n.1415T>A c.1292T>A (p.Leu431Ter) c.1268T>A (p.Leu423Ter) c.1142T>A (p.Leu381Ter) | dbSNP gnomAD v4 |
| 2 | g.230185999A>G | CA117579 | SP110 | c.665T>C (p.Leu222Ser) c.1274T>C (p.Leu425Ser) c.1124T>C (p.Leu375Ser) n.1415T>C c.1292T>C (p.Leu431Ser) c.1268T>C (p.Leu423Ser) c.1142T>C (p.Leu381Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |