| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32141905C>A | CA346502822 | SPAST | c.*1155C>A (n.*1155C>A) c.1495C>A (p.Arg499Ser) c.1492C>A (p.Arg498Ser) c.1232C>A c.1396C>A (p.Arg466Ser) c.1269C>A c.1237C>A (p.Arg413Ser) c.562C>A c.1075C>A c.1371C>A c.1141C>A (p.Arg381Ser) n.2232C>A c.945C>A c.674C>A c.1141C>A c.1399C>A (p.Arg467Ser) n.1187C>A c.995C>A | ClinVar dbSNP gnomAD v4 |
| 2 | g.32141905C>T | CA253551 | SPAST | c.*1155C>T (n.*1155C>T) c.1495C>T (p.Arg499Cys) c.1492C>T (p.Arg498Cys) c.1232C>T c.1396C>T (p.Arg466Cys) c.1269C>T c.1237C>T (p.Arg413Cys) c.562C>T c.1075C>T c.1371C>T c.1141C>T (p.Arg381Cys) n.2232C>T c.945C>T c.674C>T c.1141C>T c.1399C>T (p.Arg467Cys) n.1187C>T c.995C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.32141905C= | CA1242504512 | SPAST | c.*1155C= (n.*1155C=) c.1495C= (p.Arg499=) c.1492C= (p.Arg498=) c.1232C= c.1396C= (p.Arg466=) c.1269C= c.1237C= (p.Arg413=) c.562C= c.1075C= c.1371C= c.1141C= (p.Arg381=) n.2232C= c.945C= c.674C= c.1141C= c.1399C= (p.Arg467=) n.1187C= c.995C= | dbSNP |