Mutations in TNFRSF13B
Exon . | NCBI_SS no. . | cDNA* . | Protein† . | Domain . |
---|---|---|---|---|
2 | 10516792 | c.118T>C | p.W40R | CRD1, extracellular |
10516793 | c.121delG | p.D41Ifs*43 | CRD1, extracellular | |
10516794 | c.121G>C | p.D41H | CRD1, extracellular | |
3 | 10516795 | c.204insA | p.L69Tfs*12 | CRD2, extracellular |
10516796 | c.236A>G | p.Y79C | CRD2, extracellular | |
10516797 | c.260T>A | p.I87N | CRD2, extracellular | |
10516798 | c.298insT | p.C100Lfs*6 | CRD2, extracellular | |
48424922 | c.310T>C | p.C104R | CRD2, extracellular | |
10516799 | c.311G>A | p.C104Y | CRD2, extracellular | |
10516800 | c.445G>A | p.A149T | Stalk region | |
4 | 10516801 | c.455G>A | p.G152E | Stalk region |
10516802 | c.492C>A | p.Y164X | Stalk region | |
10516803 | c.542C>A | p.A181E | Transmembrane | |
10516804 | c.571insG | p.D191Gfs*46 | Intracellular | |
10516805 | c.579C>A | p.C193X | Intracellular | |
5 | 10516806 | c.736G>T | p.V246F | Intracellular |
Exon . | NCBI_SS no. . | cDNA* . | Protein† . | Domain . |
---|---|---|---|---|
2 | 10516792 | c.118T>C | p.W40R | CRD1, extracellular |
10516793 | c.121delG | p.D41Ifs*43 | CRD1, extracellular | |
10516794 | c.121G>C | p.D41H | CRD1, extracellular | |
3 | 10516795 | c.204insA | p.L69Tfs*12 | CRD2, extracellular |
10516796 | c.236A>G | p.Y79C | CRD2, extracellular | |
10516797 | c.260T>A | p.I87N | CRD2, extracellular | |
10516798 | c.298insT | p.C100Lfs*6 | CRD2, extracellular | |
48424922 | c.310T>C | p.C104R | CRD2, extracellular | |
10516799 | c.311G>A | p.C104Y | CRD2, extracellular | |
10516800 | c.445G>A | p.A149T | Stalk region | |
4 | 10516801 | c.455G>A | p.G152E | Stalk region |
10516802 | c.492C>A | p.Y164X | Stalk region | |
10516803 | c.542C>A | p.A181E | Transmembrane | |
10516804 | c.571insG | p.D191Gfs*46 | Intracellular | |
10516805 | c.579C>A | p.C193X | Intracellular | |
5 | 10516806 | c.736G>T | p.V246F | Intracellular |