| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.50470140C>T | CA4262068 | DDC,FIGNL1 | c.1073G>A (p.Arg358His) c.839G>A (p.Arg280His) c.715G>A c.794G>A (p.Arg265His) c.*174G>A (n.*174G>A) n.229G>A c.-10-22843G>A (n.-10-22843G>A) c.929G>A (p.Arg310His) c.959G>A (p.Arg320His) c.722G>A (p.Arg241His) c.1016G>A (p.Arg339His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.50470140C= | CA1706619852 | DDC,FIGNL1 | c.1073G= (p.Arg358=) c.839G= (p.Arg280=) c.715G= c.794G= (p.Arg265=) c.*174G= (n.*174G=) n.229G= c.-10-22843G= (n.-10-22843G=) c.929G= (p.Arg310=) c.959G= (p.Arg320=) c.722G= (p.Arg241=) c.1016G= (p.Arg339=) | dbSNP |
| 7 | g.50470140C>A | CA367533514 | DDC,FIGNL1 | c.1073G>T (p.Arg358Leu) c.839G>T (p.Arg280Leu) c.715G>T c.794G>T (p.Arg265Leu) c.*174G>T (n.*174G>T) n.229G>T c.-10-22843G>T (n.-10-22843G>T) c.929G>T (p.Arg310Leu) c.959G>T (p.Arg320Leu) c.722G>T (p.Arg241Leu) c.1016G>T (p.Arg339Leu) | dbSNP gnomAD v4 |