| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.152331362dup | CA1139659877 | SYNE1 | c.13325dup (p.Gln4443ProfsTer?) c.13112dup (p.Gln4372ProfsTer?) c.12869dup (p.Gln4291ProfsTer8) c.-2594dup (n.-2594dup) n.671dup c.13346dup (p.Gln4450ProfsTer?) c.13295dup (p.Gln4433ProfsTer?) c.13274dup (p.Gln4426ProfsTer?) c.13190dup (p.Gln4398ProfsTer?) c.13187dup (p.Gln4397ProfsTer?) c.13181dup (p.Gln4395ProfsTer?) c.11621dup (p.Gln3875ProfsTer?) c.11114dup (p.Gln3706ProfsTer?) c.6581dup (p.Gln2195ProfsTer?) c.13319dup (p.Gln4441ProfsTer?) c.13268dup (p.Gln4424ProfsTer?) n.13829dup | ClinVar dbSNP gnomAD v4 |
| 6 | g.152331362del | CA16618258 | SYNE1 | c.13325del (p.Gly4442AlafsTer7) c.13112del (p.Gly4371AlafsTer7) c.12869del (p.Gly4290AlafsTer19) c.-2594del (n.-2594del) n.671del c.13346del (p.Gly4449AlafsTer7) c.13295del (p.Gly4432AlafsTer7) c.13274del (p.Gly4425AlafsTer7) c.13190del (p.Gly4397AlafsTer7) c.13187del (p.Gly4396AlafsTer7) c.13181del (p.Gly4394AlafsTer7) c.11621del (p.Gly3874AlafsTer7) c.11114del (p.Gly3705AlafsTer7) c.6581del (p.Gly2194AlafsTer7) c.13319del (p.Gly4440AlafsTer7) c.13268del (p.Gly4423AlafsTer7) n.13829del | ClinVar dbSNP |