| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.70766250C>G | CA16043617 | AUTS2 | c.1605C>G (p.His535Gln) c.-61C>G (n.-61C>G) c.231C>G (p.His77Gln) c.1602C>G (p.His534Gln) c.17C>G c.449C>G c.230C>G n.212C>G c.861C>G (p.His287Gln) c.1314C>G (p.His438Gln) c.1131C>G (p.His377Gln) c.1104C>G (p.His368Gln) | ClinVar dbSNP |
| 7 | g.70766250C= | CA1716166160 | AUTS2 | c.1605C= (p.His535=) c.-61C= (n.-61C=) c.231C= (p.His77=) c.1602C= (p.His534=) c.17C= c.449C= c.230C= n.212C= c.861C= (p.His287=) c.1314C= (p.His438=) c.1131C= (p.His377=) c.1104C= (p.His368=) | dbSNP |
| 7 | g.70766250C>T | CA455802351 | AUTS2 | c.1605C>T (p.His535=) c.-61C>T (n.-61C>T) c.231C>T (p.His77=) c.1602C>T (p.His534=) c.17C>T c.449C>T c.230C>T n.212C>T c.861C>T (p.His287=) c.1314C>T (p.His438=) c.1131C>T (p.His377=) c.1104C>T (p.His368=) | dbSNP gnomAD v4 |