| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.168467849C>T | CA3549380 | WWC1 | c.3160C>T (p.Arg1054Ter) c.3059C>T n.157C>T c.3178C>T (p.Arg1060Ter) n.42C>T n.976C>T c.1153C>T (p.Arg385Ter) c.2486C>T c.976C>T (p.Arg326Ter) c.3175C>T (p.Arg1059Ter) c.3193C>T (p.Arg1065Ter) c.3157C>T (p.Arg1053Ter) c.3376C>T (p.Arg1126Ter) c.3373C>T (p.Arg1125Ter) c.3361C>T (p.Arg1121Ter) c.3358C>T (p.Arg1120Ter) c.3355C>T (p.Arg1119Ter) c.3343C>T (p.Arg1115Ter) c.3340C>T (p.Arg1114Ter) c.2911C>T (p.Arg971Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.168467849C>G | CA362091406 | WWC1 | c.3160C>G (p.Arg1054Gly) c.3059C>G n.157C>G c.3178C>G (p.Arg1060Gly) n.42C>G n.976C>G c.1153C>G (p.Arg385Gly) c.2486C>G c.976C>G (p.Arg326Gly) c.3175C>G (p.Arg1059Gly) c.3193C>G (p.Arg1065Gly) c.3157C>G (p.Arg1053Gly) c.3376C>G (p.Arg1126Gly) c.3373C>G (p.Arg1125Gly) c.3361C>G (p.Arg1121Gly) c.3358C>G (p.Arg1120Gly) c.3355C>G (p.Arg1119Gly) c.3343C>G (p.Arg1115Gly) c.3340C>G (p.Arg1114Gly) c.2911C>G (p.Arg971Gly) | dbSNP gnomAD v4 |
| 5 | g.168467849C= | CA1599421604 | WWC1 | c.3160C= (p.Arg1054=) c.3059C= n.157C= c.3178C= (p.Arg1060=) n.42C= n.976C= c.1153C= (p.Arg385=) c.2486C= c.976C= (p.Arg326=) c.3175C= (p.Arg1059=) c.3193C= (p.Arg1065=) c.3157C= (p.Arg1053=) c.3376C= (p.Arg1126=) c.3373C= (p.Arg1125=) c.3361C= (p.Arg1121=) c.3358C= (p.Arg1120=) c.3355C= (p.Arg1119=) c.3343C= (p.Arg1115=) c.3340C= (p.Arg1114=) c.2911C= (p.Arg971=) | dbSNP |