| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.126595010_126595011dup | CA313230 | ALDH7A1 | c.191_192dup (p.Val65ArgfsTer14) c.191_192dup (p.Phe65SerfsTer18) c.105_106dup c.64_65dup c.189_190dup n.220_221dup n.86_87dup n.70_71dup c.191_192dup (p.Gly65ArgfsTer8) c.191_192dup (p.Ile65ArgfsTer10) c.191_192dup (p.Val65ArgfsTer10) c.191_192dup (p.Ala65ArgfsTer11) c.272_273dup (p.Val92ArgfsTer14) c.185_186dup (p.Val63ArgfsTer14) n.146_147dup c.107_108dup (p.Val37ArgfsTer14) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.126595010_126595011del | CA2675059627 | ALDH7A1 | c.191_192del (p.Glu64GlyfsTer9) c.191_192del (p.Glu64ValfsTer21) c.105_106del c.64_65del c.189_190del n.220_221del n.86_87del n.70_71del c.191_192del (p.Glu64GlyfsTer28) c.191_192del (p.Glu64AspfsTer?) c.191_192del (p.Glu64GlyfsTer15) c.191_192del (p.Glu64GlyfsTer7) c.272_273del (p.Glu91GlyfsTer9) c.185_186del (p.Glu62GlyfsTer9) n.146_147del c.107_108del (p.Glu36GlyfsTer9) | dbSNP gnomAD v4 |