| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.74361590G>A | CA119583 | DCTN1 | c.3731C>T (p.Thr1244Ile) c.3746C>T (p.Thr1249Ile) c.3695C>T (p.Thr1232Ile) c.3725C>T (p.Thr1242Ile) c.3620C>T (p.Thr1207Ile) c.3329C>T (p.Thr1110Ile) c.3671C>T (p.Thr1224Ile) c.3680C>T (p.Thr1227Ile) c.*1030C>T (n.*1030C>T) c.485C>T (p.Thr162Ile) n.4983C>T n.2009C>T n.97-53C>T c.3344C>T (p.Thr1115Ile) n.4015C>T c.3677C>T (p.Thr1226Ile) n.3794C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.74361590G>C | CA347334584 | DCTN1 | c.3731C>G (p.Thr1244Ser) c.3746C>G (p.Thr1249Ser) c.3695C>G (p.Thr1232Ser) c.3725C>G (p.Thr1242Ser) c.3620C>G (p.Thr1207Ser) c.3329C>G (p.Thr1110Ser) c.3671C>G (p.Thr1224Ser) c.3680C>G (p.Thr1227Ser) c.*1030C>G (n.*1030C>G) c.485C>G (p.Thr162Ser) n.4983C>G n.2009C>G n.97-53C>G c.3344C>G (p.Thr1115Ser) n.4015C>G c.3677C>G (p.Thr1226Ser) n.3794C>G | dbSNP |
| 2 | g.74361590G= | CA1261390959 | DCTN1 | c.3731C= (p.Thr1244=) c.3746C= (p.Thr1249=) c.3695C= (p.Thr1232=) c.3725C= (p.Thr1242=) c.3620C= (p.Thr1207=) c.3329C= (p.Thr1110=) c.3671C= (p.Thr1224=) c.3680C= (p.Thr1227=) c.*1030C= (n.*1030C=) c.485C= (p.Thr162=) n.4983C= n.2009C= n.97-53C= c.3344C= (p.Thr1115=) n.4015C= c.3677C= (p.Thr1226=) n.3794C= | dbSNP |