| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32136620C>T | CA16617529 | SPAST | c.*963C>T (n.*963C>T) c.1303C>T (p.Pro435Ser) c.1300C>T (p.Pro434Ser) c.1040C>T c.1204C>T (p.Pro402Ser) c.1077C>T c.1045C>T (p.Pro349Ser) c.462C>T c.883C>T c.1179C>T c.949C>T (p.Pro317Ser) n.2040C>T c.753C>T c.593-489C>T c.949C>T c.1207C>T (p.Pro403Ser) n.995C>T c.803C>T | ClinVar dbSNP |
| 2 | g.32136620C>A | CA346502103 | SPAST | c.*963C>A (n.*963C>A) c.1303C>A (p.Pro435Thr) c.1300C>A (p.Pro434Thr) c.1040C>A c.1204C>A (p.Pro402Thr) c.1077C>A c.1045C>A (p.Pro349Thr) c.462C>A c.883C>A c.1179C>A c.949C>A (p.Pro317Thr) n.2040C>A c.753C>A c.593-489C>A c.949C>A c.1207C>A (p.Pro403Thr) n.995C>A c.803C>A | ClinVar dbSNP gnomAD v4 |
| 2 | g.32136620C= | CA1242501242 | SPAST | c.*963C= (n.*963C=) c.1303C= (p.Pro435=) c.1300C= (p.Pro434=) c.1040C= c.1204C= (p.Pro402=) c.1077C= c.1045C= (p.Pro349=) c.462C= c.883C= c.1179C= c.949C= (p.Pro317=) n.2040C= c.753C= c.593-489C= c.949C= c.1207C= (p.Pro403=) n.995C= c.803C= | dbSNP |