| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.74363337C>T | CA119589 | DCTN1 | c.3287G>A (p.Arg1096Lys) c.3302G>A (p.Arg1101Lys) c.3251G>A (p.Arg1084Lys) c.3281G>A (p.Arg1094Lys) c.3176G>A (p.Arg1059Lys) c.2885G>A (p.Arg962Lys) c.3227G>A (p.Arg1076Lys) c.3236G>A (p.Arg1079Lys) c.*586G>A (n.*586G>A) c.41G>A (p.Arg14Lys) n.4539G>A n.1565G>A n.97-1800G>A c.2900G>A (p.Arg967Lys) n.3571G>A c.3233G>A (p.Arg1078Lys) n.3350G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.74363337C= | CA1261391847 | DCTN1 | c.3287G= (p.Arg1096=) c.3302G= (p.Arg1101=) c.3251G= (p.Arg1084=) c.3281G= (p.Arg1094=) c.3176G= (p.Arg1059=) c.2885G= (p.Arg962=) c.3227G= (p.Arg1076=) c.3236G= (p.Arg1079=) c.*586G= (n.*586G=) c.41G= (p.Arg14=) n.4539G= n.1565G= n.97-1800G= c.2900G= (p.Arg967=) n.3571G= c.3233G= (p.Arg1078=) n.3350G= | dbSNP |