| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.128625802C>T | CA318724 | SPTAN1 | c.6139C>T (p.Gln2047Ter) c.6103C>T (p.Gln2035Ter) c.5566C>T (p.Gln1856Ter) c.3726C>T c.2045C>T c.6028C>T (p.Gln2010Ter) c.6088C>T (p.Gln2030Ter) n.348C>T c.6043C>T (p.Gln2015Ter) c.6124C>T (p.Gln2042Ter) c.6079C>T (p.Gln2027Ter) c.6064C>T (p.Gln2022Ter) | dbSNP COSMIC COSMIC |
| 9 | g.128625802C>G | CA5265645 | SPTAN1 | c.6139C>G (p.Gln2047Glu) c.6103C>G (p.Gln2035Glu) c.5566C>G (p.Gln1856Glu) c.3726C>G c.2045C>G c.6028C>G (p.Gln2010Glu) c.6088C>G (p.Gln2030Glu) n.348C>G c.6043C>G (p.Gln2015Glu) c.6124C>G (p.Gln2042Glu) c.6079C>G (p.Gln2027Glu) c.6064C>G (p.Gln2022Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128625802C>A | CA375086007 | SPTAN1 | c.6139C>A (p.Gln2047Lys) c.6103C>A (p.Gln2035Lys) c.5566C>A (p.Gln1856Lys) c.3726C>A c.2045C>A c.6028C>A (p.Gln2010Lys) c.6088C>A (p.Gln2030Lys) n.348C>A c.6043C>A (p.Gln2015Lys) c.6124C>A (p.Gln2042Lys) c.6079C>A (p.Gln2027Lys) c.6064C>A (p.Gln2022Lys) | ClinVar dbSNP |
| 9 | g.128625802C= | CA1880368024 | SPTAN1 | c.6139C= (p.Gln2047=) c.6103C= (p.Gln2035=) c.5566C= (p.Gln1856=) c.3726C= c.2045C= c.6028C= (p.Gln2010=) c.6088C= (p.Gln2030=) n.348C= c.6043C= (p.Gln2015=) c.6124C= (p.Gln2042=) c.6079C= (p.Gln2027=) c.6064C= (p.Gln2022=) | dbSNP |