| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.44564675G>T | CA344388 | SPG11 | c.714C>A (p.Tyr238Ter) c.6546C>A (p.Tyr2182Ter) c.6879C>A (p.Tyr2293Ter) c.*3280C>A (n.*3280C>A) c.*3515C>A (n.*3515C>A) c.6822C>A (p.Tyr2274Ter) c.*3786C>A (n.*3786C>A) c.*665C>A (n.*665C>A) c.*973C>A (n.*973C>A) n.6069C>A c.*3443C>A (n.*3443C>A) c.7023C>A (p.Tyr2341Ter) c.6755-1374C>A (n.6755-1374C>A) c.6684C>A (p.Tyr2228Ter) c.1394C>A n.315C>A c.6765C>A (p.Tyr2255Ter) c.6915C>A (p.Tyr2305Ter) c.3900C>A (p.Tyr1300Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.44564675G>A | CA344390 | SPG11 | c.714C>T (p.Tyr238=) c.6546C>T (p.Tyr2182=) c.6879C>T (p.Tyr2293=) c.*3280C>T (n.*3280C>T) c.*3515C>T (n.*3515C>T) c.6822C>T (p.Tyr2274=) c.*3786C>T (n.*3786C>T) c.*665C>T (n.*665C>T) c.*973C>T (n.*973C>T) n.6069C>T c.*3443C>T (n.*3443C>T) c.7023C>T (p.Tyr2341=) c.6755-1374C>T (n.6755-1374C>T) c.6684C>T (p.Tyr2228=) c.1394C>T n.315C>T c.6765C>T (p.Tyr2255=) c.6915C>T (p.Tyr2305=) c.3900C>T (p.Tyr1300=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.44564675G>C | CA392212955 | SPG11 | c.714C>G (p.Tyr238Ter) c.6546C>G (p.Tyr2182Ter) c.6879C>G (p.Tyr2293Ter) c.*3280C>G (n.*3280C>G) c.*3515C>G (n.*3515C>G) c.6822C>G (p.Tyr2274Ter) c.*3786C>G (n.*3786C>G) c.*665C>G (n.*665C>G) c.*973C>G (n.*973C>G) n.6069C>G c.*3443C>G (n.*3443C>G) c.7023C>G (p.Tyr2341Ter) c.6755-1374C>G (n.6755-1374C>G) c.6684C>G (p.Tyr2228Ter) c.1394C>G n.315C>G c.6765C>G (p.Tyr2255Ter) c.6915C>G (p.Tyr2305Ter) c.3900C>G (p.Tyr1300Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |