| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7583062C>A | CA045761 | DSP | c.4471C>A (p.Arg1491=) c.5800C>A (p.Arg1934=) c.4003C>A (p.Arg1335=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583062C>T | CA006621 | DSP | c.4471C>T (p.Arg1491Ter) c.5800C>T (p.Arg1934Ter) c.4003C>T (p.Arg1335Ter) | ClinVar dbSNP |
| 6 | g.7583062C= | CA1608607078 | DSP | c.4471C= (p.Arg1491=) c.5800C= (p.Arg1934=) c.4003C= (p.Arg1335=) | dbSNP |
| 6 | g.7583062C>G | CA362689439 | DSP | c.4471C>G (p.Arg1491Gly) c.5800C>G (p.Arg1934Gly) c.4003C>G (p.Arg1335Gly) | dbSNP gnomAD v4 |