Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.112839942C>G | CA038746 | APC | c.4402C>G (p.Arg1468Gly) c.*4354C>G (n.*4354C>G) c.4294C>G (p.Arg1432Gly) c.4348C>G (p.Arg1450Gly) c.*3670C>G (n.*3670C>G) c.230+10970C>G c.4378C>G (p.Arg1460Gly) c.4273C>G (p.Arg1425Gly) c.4264C>G (p.Arg1422Gly) c.4225C>G (p.Arg1409Gly) c.4171C>G (p.Arg1391Gly) c.4075C>G (p.Arg1359Gly) c.4045C>G (p.Arg1349Gly) c.3970C>G (p.Arg1324Gly) c.3868C>G (p.Arg1290Gly) c.3499C>G (p.Arg1167Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.112839942C>T | CA009465 | APC | c.4402C>T (p.Arg1468Ter) c.*4354C>T (n.*4354C>T) c.4294C>T (p.Arg1432Ter) c.4348C>T (p.Arg1450Ter) c.*3670C>T (n.*3670C>T) c.230+10970C>T c.4378C>T (p.Arg1460Ter) c.4273C>T (p.Arg1425Ter) c.4264C>T (p.Arg1422Ter) c.4225C>T (p.Arg1409Ter) c.4171C>T (p.Arg1391Ter) c.4075C>T (p.Arg1359Ter) c.4045C>T (p.Arg1349Ter) c.3970C>T (p.Arg1324Ter) c.3868C>T (p.Arg1290Ter) c.3499C>T (p.Arg1167Ter) | ClinVar dbSNP gnomAD v2 COSMIC |
5 | g.112839942C>A | CA445964505 | APC | c.4402C>A (p.Arg1468=) c.*4354C>A (n.*4354C>A) c.4294C>A (p.Arg1432=) c.4348C>A (p.Arg1450=) c.*3670C>A (n.*3670C>A) c.230+10970C>A c.4378C>A (p.Arg1460=) c.4273C>A (p.Arg1425=) c.4264C>A (p.Arg1422=) c.4225C>A (p.Arg1409=) c.4171C>A (p.Arg1391=) c.4075C>A (p.Arg1359=) c.4045C>A (p.Arg1349=) c.3970C>A (p.Arg1324=) c.3868C>A (p.Arg1290=) c.3499C>A (p.Arg1167=) | ClinVar dbSNP |