| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32064247G>T | CA16604220 | SPAST | c.415+1G>T (n.415+1G>T) c.299+1G>T c.285+1G>T c.157+1G>T (n.157+1G>T) c.291+1G>T c.256+1G>T (n.256+1G>T) c.36+1G>T c.249+1G>T | ClinVar dbSNP gnomAD v4 |
| 2 | g.32064247G>A | CA346602523 | SPAST | c.415+1G>A (n.415+1G>A) c.299+1G>A c.285+1G>A c.157+1G>A (n.157+1G>A) c.291+1G>A c.256+1G>A (n.256+1G>A) c.36+1G>A c.249+1G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.32064247G= | CA1242461835 | SPAST | c.415+1G= (n.415+1G=) c.299+1G= c.285+1G= c.157+1G= (n.157+1G=) c.291+1G= c.256+1G= (n.256+1G=) c.36+1G= c.249+1G= | dbSNP |
| 2 | g.32064247G>C | CA346602524 | SPAST | c.415+1G>C (n.415+1G>C) c.299+1G>C c.285+1G>C c.157+1G>C (n.157+1G>C) c.291+1G>C c.256+1G>C (n.256+1G>C) c.36+1G>C c.249+1G>C | ClinVar dbSNP |