| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.39348941G>C | CA7164913 | MIA2 | c.4036G>C (p.Gly1346Arg) c.2212G>C (p.Gly738Arg) c.2176G>C (p.Gly726Arg) c.2083G>C (p.Gly695Arg) c.2227G>C (p.Gly743Arg) c.2125G>C (p.Gly709Arg) n.426G>C c.3817G>C (p.Gly1273Arg) c.1987G>C (p.Gly663Arg) c.1972G>C (p.Gly658Arg) c.1996G>C (p.Gly666Arg) c.2194G>C (p.Gly732Arg) c.2239G>C (p.Gly747Arg) c.2221G>C (p.Gly741Arg) c.2203G>C (p.Gly735Arg) c.2152G>C (p.Gly718Arg) c.1999G>C (p.Gly667Arg) c.1843G>C (p.Gly615Arg) c.2047G>C (p.Gly683Arg) c.1918G>C (p.Gly640Arg) c.2110G>C (p.Gly704Arg) c.2005G>C (p.Gly669Arg) c.1894G>C (p.Gly632Arg) c.2134G>C (p.Gly712Arg) n.2286G>C n.2584G>C n.2474G>C c.2254G>C (p.Gly752Arg) c.2236G>C (p.Gly746Arg) c.2218G>C (p.Gly740Arg) c.2167G>C (p.Gly723Arg) c.2014G>C (p.Gly672Arg) c.4078G>C (p.Gly1360Arg) c.4063G>C (p.Gly1355Arg) c.4051G>C (p.Gly1351Arg) c.3949G>C (p.Gly1317Arg) c.3907G>C (p.Gly1303Arg) n.2323G>C n.2213G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.39348941G>A | CA7164912 | MIA2 | c.4036G>A (p.Gly1346Arg) c.2212G>A (p.Gly738Arg) c.2176G>A (p.Gly726Arg) c.2083G>A (p.Gly695Arg) c.2227G>A (p.Gly743Arg) c.2125G>A (p.Gly709Arg) n.426G>A c.3817G>A (p.Gly1273Arg) c.1987G>A (p.Gly663Arg) c.1972G>A (p.Gly658Arg) c.1996G>A (p.Gly666Arg) c.2194G>A (p.Gly732Arg) c.2239G>A (p.Gly747Arg) c.2221G>A (p.Gly741Arg) c.2203G>A (p.Gly735Arg) c.2152G>A (p.Gly718Arg) c.1999G>A (p.Gly667Arg) c.1843G>A (p.Gly615Arg) c.2047G>A (p.Gly683Arg) c.1918G>A (p.Gly640Arg) c.2110G>A (p.Gly704Arg) c.2005G>A (p.Gly669Arg) c.1894G>A (p.Gly632Arg) c.2134G>A (p.Gly712Arg) n.2286G>A n.2584G>A n.2474G>A c.2254G>A (p.Gly752Arg) c.2236G>A (p.Gly746Arg) c.2218G>A (p.Gly740Arg) c.2167G>A (p.Gly723Arg) c.2014G>A (p.Gly672Arg) c.4078G>A (p.Gly1360Arg) c.4063G>A (p.Gly1355Arg) c.4051G>A (p.Gly1351Arg) c.3949G>A (p.Gly1317Arg) c.3907G>A (p.Gly1303Arg) n.2323G>A n.2213G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.39348941G>T | CA389564029 | MIA2 | c.4036G>T (p.Gly1346Trp) c.2212G>T (p.Gly738Trp) c.2176G>T (p.Gly726Trp) c.2083G>T (p.Gly695Trp) c.2227G>T (p.Gly743Trp) c.2125G>T (p.Gly709Trp) n.426G>T c.3817G>T (p.Gly1273Trp) c.1987G>T (p.Gly663Trp) c.1972G>T (p.Gly658Trp) c.1996G>T (p.Gly666Trp) c.2194G>T (p.Gly732Trp) c.2239G>T (p.Gly747Trp) c.2221G>T (p.Gly741Trp) c.2203G>T (p.Gly735Trp) c.2152G>T (p.Gly718Trp) c.1999G>T (p.Gly667Trp) c.1843G>T (p.Gly615Trp) c.2047G>T (p.Gly683Trp) c.1918G>T (p.Gly640Trp) c.2110G>T (p.Gly704Trp) c.2005G>T (p.Gly669Trp) c.1894G>T (p.Gly632Trp) c.2134G>T (p.Gly712Trp) n.2286G>T n.2584G>T n.2474G>T c.2254G>T (p.Gly752Trp) c.2236G>T (p.Gly746Trp) c.2218G>T (p.Gly740Trp) c.2167G>T (p.Gly723Trp) c.2014G>T (p.Gly672Trp) c.4078G>T (p.Gly1360Trp) c.4063G>T (p.Gly1355Trp) c.4051G>T (p.Gly1351Trp) c.3949G>T (p.Gly1317Trp) c.3907G>T (p.Gly1303Trp) n.2323G>T n.2213G>T | dbSNP COSMIC COSMIC |
| 14 | g.39348941G= | CA2130752538 | MIA2 | c.4036G= (p.Gly1346=) c.2212G= (p.Gly738=) c.2176G= (p.Gly726=) c.2083G= (p.Gly695=) c.2227G= (p.Gly743=) c.2125G= (p.Gly709=) n.426G= c.3817G= (p.Gly1273=) c.1987G= (p.Gly663=) c.1972G= (p.Gly658=) c.1996G= (p.Gly666=) c.2194G= (p.Gly732=) c.2239G= (p.Gly747=) c.2221G= (p.Gly741=) c.2203G= (p.Gly735=) c.2152G= (p.Gly718=) c.1999G= (p.Gly667=) c.1843G= (p.Gly615=) c.2047G= (p.Gly683=) c.1918G= (p.Gly640=) c.2110G= (p.Gly704=) c.2005G= (p.Gly669=) c.1894G= (p.Gly632=) c.2134G= (p.Gly712=) n.2286G= n.2584G= n.2474G= c.2254G= (p.Gly752=) c.2236G= (p.Gly746=) c.2218G= (p.Gly740=) c.2167G= (p.Gly723=) c.2014G= (p.Gly672=) c.4078G= (p.Gly1360=) c.4063G= (p.Gly1355=) c.4051G= (p.Gly1351=) c.3949G= (p.Gly1317=) c.3907G= (p.Gly1303=) n.2323G= n.2213G= | dbSNP |