| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.55228993C>T | CA266820 | TCF4 | c.1733G>A (p.Arg578His) c.1613G>A (p.Arg538His) n.1413G>A c.1661G>A (p.Arg554His) c.*1441G>A (n.*1441G>A) c.1343G>A (p.Arg448His) c.*1611G>A (n.*1611G>A) c.1085G>A (p.Arg362His) n.1788G>A n.1427G>A c.1331G>A c.1760G>A (p.Arg587His) c.*1344G>A (n.*1344G>A) c.1721G>A (p.Arg574His) c.2039G>A (p.Arg680His) c.1253G>A (p.Arg418His) c.1331G>A (p.Arg444His) c.1649G>A (p.Arg550His) c.1595G>A (p.Arg532His) c.1520G>A (p.Arg507His) c.1241G>A (p.Arg414His) n.5256G>A c.1508G>A (p.Arg503His) c.1751G>A (p.Arg584His) c.1469G>A (p.Arg490His) c.1553G>A (p.Arg518His) c.1712G>A (p.Arg571His) c.1541G>A (p.Arg514His) c.1646G>A (p.Arg549His) n.756G>A c.1073G>A (p.Arg358His) c.1730G>A (p.Arg577His) c.1658G>A (p.Arg553His) c.1607G>A (p.Arg536His) c.1523G>A (p.Arg508His) c.1250G>A (p.Arg417His) c.2036G>A (p.Arg679His) c.2027G>A (p.Arg676His) c.2024G>A (p.Arg675His) c.1727G>A (p.Arg576His) c.1238G>A (p.Arg413His) c.1718G>A (p.Arg573His) c.1643G>A (p.Arg548His) c.1604G>A (p.Arg535His) c.1517G>A (p.Arg506His) c.1511G>A (p.Arg504His) c.1340G>A (p.Arg447His) c.1496G>A (p.Arg499His) c.1664G>A (p.Arg555His) | ClinVar dbSNP gnomAD v4 |
| 18 | g.55228993C>G | CA254167 | TCF4 | c.1733G>C (p.Arg578Pro) c.1613G>C (p.Arg538Pro) n.1413G>C c.1661G>C (p.Arg554Pro) c.*1441G>C (n.*1441G>C) c.1343G>C (p.Arg448Pro) c.*1611G>C (n.*1611G>C) c.1085G>C (p.Arg362Pro) n.1788G>C n.1427G>C c.1331G>C c.1760G>C (p.Arg587Pro) c.*1344G>C (n.*1344G>C) c.1721G>C (p.Arg574Pro) c.2039G>C (p.Arg680Pro) c.1253G>C (p.Arg418Pro) c.1331G>C (p.Arg444Pro) c.1649G>C (p.Arg550Pro) c.1595G>C (p.Arg532Pro) c.1520G>C (p.Arg507Pro) c.1241G>C (p.Arg414Pro) n.5256G>C c.1508G>C (p.Arg503Pro) c.1751G>C (p.Arg584Pro) c.1469G>C (p.Arg490Pro) c.1553G>C (p.Arg518Pro) c.1712G>C (p.Arg571Pro) c.1541G>C (p.Arg514Pro) c.1646G>C (p.Arg549Pro) n.756G>C c.1073G>C (p.Arg358Pro) c.1730G>C (p.Arg577Pro) c.1658G>C (p.Arg553Pro) c.1607G>C (p.Arg536Pro) c.1523G>C (p.Arg508Pro) c.1250G>C (p.Arg417Pro) c.2036G>C (p.Arg679Pro) c.2027G>C (p.Arg676Pro) c.2024G>C (p.Arg675Pro) c.1727G>C (p.Arg576Pro) c.1238G>C (p.Arg413Pro) c.1718G>C (p.Arg573Pro) c.1643G>C (p.Arg548Pro) c.1604G>C (p.Arg535Pro) c.1517G>C (p.Arg506Pro) c.1511G>C (p.Arg504Pro) c.1340G>C (p.Arg447Pro) c.1496G>C (p.Arg499Pro) c.1664G>C (p.Arg555Pro) | ClinVar dbSNP |