Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.55228988G>T | CA504002984 | TCF4 | c.1738C>A (p.Arg580=) c.1618C>A (p.Arg540=) n.1418C>A c.1666C>A (p.Arg556=) c.*1446C>A (n.*1446C>A) c.1348C>A (p.Arg450=) c.*1616C>A (n.*1616C>A) c.1090C>A (p.Arg364=) n.1793C>A n.1432C>A c.1336C>A c.1765C>A (p.Arg589=) c.*1349C>A (n.*1349C>A) c.1726C>A (p.Arg576=) c.2044C>A (p.Arg682=) c.1258C>A (p.Arg420=) c.1336C>A (p.Arg446=) c.1654C>A (p.Arg552=) c.1600C>A (p.Arg534=) c.1525C>A (p.Arg509=) c.1246C>A (p.Arg416=) n.5261C>A c.1513C>A (p.Arg505=) c.1756C>A (p.Arg586=) c.1474C>A (p.Arg492=) c.1558C>A (p.Arg520=) c.1717C>A (p.Arg573=) c.1546C>A (p.Arg516=) c.1651C>A (p.Arg551=) n.761C>A c.1078C>A (p.Arg360=) c.1735C>A (p.Arg579=) c.1663C>A (p.Arg555=) c.1612C>A (p.Arg538=) c.1528C>A (p.Arg510=) c.1255C>A (p.Arg419=) c.2041C>A (p.Arg681=) c.2032C>A (p.Arg678=) c.2029C>A (p.Arg677=) c.1732C>A (p.Arg578=) c.1243C>A (p.Arg415=) c.1723C>A (p.Arg575=) c.1648C>A (p.Arg550=) c.1609C>A (p.Arg537=) c.1522C>A (p.Arg508=) c.1516C>A (p.Arg506=) c.1345C>A (p.Arg449=) c.1501C>A (p.Arg501=) c.1669C>A (p.Arg557=) | dbSNP gnomAD v4 |
18 | g.55228988G>A | CA254160 | TCF4 | c.1738C>T (p.Arg580Trp) c.1618C>T (p.Arg540Trp) n.1418C>T c.1666C>T (p.Arg556Trp) c.*1446C>T (n.*1446C>T) c.1348C>T (p.Arg450Trp) c.*1616C>T (n.*1616C>T) c.1090C>T (p.Arg364Trp) n.1793C>T n.1432C>T c.1336C>T c.1765C>T (p.Arg589Trp) c.*1349C>T (n.*1349C>T) c.1726C>T (p.Arg576Trp) c.2044C>T (p.Arg682Trp) c.1258C>T (p.Arg420Trp) c.1336C>T (p.Arg446Trp) c.1654C>T (p.Arg552Trp) c.1600C>T (p.Arg534Trp) c.1525C>T (p.Arg509Trp) c.1246C>T (p.Arg416Trp) n.5261C>T c.1513C>T (p.Arg505Trp) c.1756C>T (p.Arg586Trp) c.1474C>T (p.Arg492Trp) c.1558C>T (p.Arg520Trp) c.1717C>T (p.Arg573Trp) c.1546C>T (p.Arg516Trp) c.1651C>T (p.Arg551Trp) n.761C>T c.1078C>T (p.Arg360Trp) c.1735C>T (p.Arg579Trp) c.1663C>T (p.Arg555Trp) c.1612C>T (p.Arg538Trp) c.1528C>T (p.Arg510Trp) c.1255C>T (p.Arg419Trp) c.2041C>T (p.Arg681Trp) c.2032C>T (p.Arg678Trp) c.2029C>T (p.Arg677Trp) c.1732C>T (p.Arg578Trp) c.1243C>T (p.Arg415Trp) c.1723C>T (p.Arg575Trp) c.1648C>T (p.Arg550Trp) c.1609C>T (p.Arg537Trp) c.1522C>T (p.Arg508Trp) c.1516C>T (p.Arg506Trp) c.1345C>T (p.Arg449Trp) c.1501C>T (p.Arg501Trp) c.1669C>T (p.Arg557Trp) | ClinVar dbSNP COSMIC COSMIC COSMIC |