| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.152369497T>A | CA351284 | SYNE1 | c.976A>T (p.Lys326Ter) c.9625A>T (p.Lys3209Ter) c.9646A>T (p.Lys3216Ter) c.9691A>T (p.Lys3231Ter) c.973A>T (p.Lys325Ter) c.218A>T n.831A>T c.9595A>T (p.Lys3199Ter) c.9574A>T (p.Lys3192Ter) c.9487A>T (p.Lys3163Ter) c.9481A>T (p.Lys3161Ter) c.7921A>T (p.Lys2641Ter) c.7414A>T (p.Lys2472Ter) c.2881A>T (p.Lys961Ter) c.9619A>T (p.Lys3207Ter) c.9568A>T (p.Lys3190Ter) n.10129A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152369497T>C | CA366138244 | SYNE1 | c.976A>G (p.Lys326Glu) c.9625A>G (p.Lys3209Glu) c.9646A>G (p.Lys3216Glu) c.9691A>G (p.Lys3231Glu) c.973A>G (p.Lys325Glu) c.218A>G n.831A>G c.9595A>G (p.Lys3199Glu) c.9574A>G (p.Lys3192Glu) c.9487A>G (p.Lys3163Glu) c.9481A>G (p.Lys3161Glu) c.7921A>G (p.Lys2641Glu) c.7414A>G (p.Lys2472Glu) c.2881A>G (p.Lys961Glu) c.9619A>G (p.Lys3207Glu) c.9568A>G (p.Lys3190Glu) n.10129A>G | ClinVar dbSNP |