| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.157148848C>G | CA366389091 | ARID1B | c.2986C>G (p.Gln996Glu) c.2896C>G (p.Gln966Glu) c.1000C>G (p.Gln334Glu) c.3025C>G (p.Gln1009Glu) c.2737C>G (p.Gln913Glu) c.1144C>G (p.Gln382Glu) n.887C>G c.307C>G (p.Gln103Glu) n.120C>G c.225C>G c.29C>G c.487C>G (p.Gln163Glu) c.2776C>G (p.Gln926Glu) n.1735C>G c.1003C>G (p.Gln335Glu) n.833C>G c.59C>G c.1687C>G (p.Gln563Glu) c.1507C>G (p.Gln503Glu) c.1267C>G (p.Gln423Glu) c.886C>G (p.Gln296Glu) c.-20+15641C>G (n.-20+15641C>G) c.2818C>G (p.Gln940Glu) c.2638C>G (p.Gln880Glu) n.2901C>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.157148848C>T | CA16042664 | ARID1B | c.2986C>T (p.Gln996Ter) c.2896C>T (p.Gln966Ter) c.1000C>T (p.Gln334Ter) c.3025C>T (p.Gln1009Ter) c.2737C>T (p.Gln913Ter) c.1144C>T (p.Gln382Ter) n.887C>T c.307C>T (p.Gln103Ter) n.120C>T c.225C>T c.29C>T c.487C>T (p.Gln163Ter) c.2776C>T (p.Gln926Ter) n.1735C>T c.1003C>T (p.Gln335Ter) n.833C>T c.59C>T c.1687C>T (p.Gln563Ter) c.1507C>T (p.Gln503Ter) c.1267C>T (p.Gln423Ter) c.886C>T (p.Gln296Ter) c.-20+15641C>T (n.-20+15641C>T) c.2818C>T (p.Gln940Ter) c.2638C>T (p.Gln880Ter) n.2901C>T | ClinVar dbSNP |
| 6 | g.157148848C= | CA1675517042 | ARID1B | c.2986C= (p.Gln996=) c.2896C= (p.Gln966=) c.1000C= (p.Gln334=) c.3025C= (p.Gln1009=) c.2737C= (p.Gln913=) c.1144C= (p.Gln382=) n.887C= c.307C= (p.Gln103=) n.120C= c.225C= c.29C= c.487C= (p.Gln163=) c.2776C= (p.Gln926=) n.1735C= c.1003C= (p.Gln335=) n.833C= c.59C= c.1687C= (p.Gln563=) c.1507C= (p.Gln503=) c.1267C= (p.Gln423=) c.886C= (p.Gln296=) c.-20+15641C= (n.-20+15641C=) c.2818C= (p.Gln940=) c.2638C= (p.Gln880=) n.2901C= | dbSNP |