Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.13718980G>C | CA113919903 | DNAH5 | c.12401C>G (p.Ala4134Gly) c.12356C>G (p.Ala4119Gly) c.12509C>G (p.Ala4170Gly) c.11414C>G (p.Ala3805Gly) c.7598C>G (p.Ala2533Gly) c.7151C>G (p.Ala2384Gly) c.6488C>G (p.Ala2163Gly) c.11003C>G (p.Ala3668Gly) | dbSNP |
5 | g.13718980G>A | CA182923 | DNAH5 | c.12401C>T (p.Ala4134Val) c.12356C>T (p.Ala4119Val) c.12509C>T (p.Ala4170Val) c.11414C>T (p.Ala3805Val) c.7598C>T (p.Ala2533Val) c.7151C>T (p.Ala2384Val) c.6488C>T (p.Ala2163Val) c.11003C>T (p.Ala3668Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13718980G>T | CA113919905 | DNAH5 | c.12401C>A (p.Ala4134Asp) c.12356C>A (p.Ala4119Asp) c.12509C>A (p.Ala4170Asp) c.11414C>A (p.Ala3805Asp) c.7598C>A (p.Ala2533Asp) c.7151C>A (p.Ala2384Asp) c.6488C>A (p.Ala2163Asp) c.11003C>A (p.Ala3668Asp) | dbSNP |