| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197101397_197101400del | CA35870447 | ASPM | n.2108-5233_2108-5230del c.7854_7857del (p.Lys2618AsnfsTer22) c.4066-5233_4066-5230del (n.4066-5233_4066-5230del) c.1816-5233_1816-5230del (n.1816-5233_1816-5230del) c.1812_1815del (p.Lys604AsnfsTer22) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197101400dup | CA276961 | ASPM | n.2108-5230dup c.7857dup (p.Gln2620ThrfsTer17) c.4066-5230dup (n.4066-5230dup) c.1816-5230dup (n.1816-5230dup) c.1815dup (p.Gln606ThrfsTer17) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.197101399_197101400dup | CA1217929914 | ASPM | n.2108-5231_2108-5230dup c.7856_7857dup (p.Gln2620AsnfsTer22) c.4066-5231_4066-5230dup (n.4066-5231_4066-5230dup) c.1816-5231_1816-5230dup (n.1816-5231_1816-5230dup) c.1814_1815dup (p.Gln606AsnfsTer22) | dbSNP |