| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.39348824A>G | CA7164872 | MIA2 | c.3919A>G (p.Ile1307Val) c.2095A>G (p.Ile699Val) c.2059A>G (p.Ile687Val) c.1966A>G (p.Ile656Val) c.2110A>G (p.Ile704Val) c.2008A>G (p.Ile670Val) n.309A>G c.3700A>G (p.Ile1234Val) c.1870A>G (p.Ile624Val) c.1855A>G (p.Ile619Val) c.1879A>G (p.Ile627Val) c.2077A>G (p.Ile693Val) c.2122A>G (p.Ile708Val) c.2104A>G (p.Ile702Val) c.2086A>G (p.Ile696Val) c.2035A>G (p.Ile679Val) c.1882A>G (p.Ile628Val) c.1726A>G (p.Ile576Val) c.1930A>G (p.Ile644Val) c.1801A>G (p.Ile601Val) c.1993A>G (p.Ile665Val) c.1888A>G (p.Ile630Val) c.1777A>G (p.Ile593Val) c.2017A>G (p.Ile673Val) n.2169A>G n.2467A>G n.2357A>G c.2137A>G (p.Ile713Val) c.2119A>G (p.Ile707Val) c.2101A>G (p.Ile701Val) c.2050A>G (p.Ile684Val) c.1897A>G (p.Ile633Val) c.3961A>G (p.Ile1321Val) c.3946A>G (p.Ile1316Val) c.3934A>G (p.Ile1312Val) c.3832A>G (p.Ile1278Val) c.3790A>G (p.Ile1264Val) n.2206A>G n.2096A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.39348824A>T | CA389562384 | MIA2 | c.3919A>T (p.Ile1307Phe) c.2095A>T (p.Ile699Phe) c.2059A>T (p.Ile687Phe) c.1966A>T (p.Ile656Phe) c.2110A>T (p.Ile704Phe) c.2008A>T (p.Ile670Phe) n.309A>T c.3700A>T (p.Ile1234Phe) c.1870A>T (p.Ile624Phe) c.1855A>T (p.Ile619Phe) c.1879A>T (p.Ile627Phe) c.2077A>T (p.Ile693Phe) c.2122A>T (p.Ile708Phe) c.2104A>T (p.Ile702Phe) c.2086A>T (p.Ile696Phe) c.2035A>T (p.Ile679Phe) c.1882A>T (p.Ile628Phe) c.1726A>T (p.Ile576Phe) c.1930A>T (p.Ile644Phe) c.1801A>T (p.Ile601Phe) c.1993A>T (p.Ile665Phe) c.1888A>T (p.Ile630Phe) c.1777A>T (p.Ile593Phe) c.2017A>T (p.Ile673Phe) n.2169A>T n.2467A>T n.2357A>T c.2137A>T (p.Ile713Phe) c.2119A>T (p.Ile707Phe) c.2101A>T (p.Ile701Phe) c.2050A>T (p.Ile684Phe) c.1897A>T (p.Ile633Phe) c.3961A>T (p.Ile1321Phe) c.3946A>T (p.Ile1316Phe) c.3934A>T (p.Ile1312Phe) c.3832A>T (p.Ile1278Phe) c.3790A>T (p.Ile1264Phe) n.2206A>T n.2096A>T | dbSNP gnomAD v2 gnomAD v4 |