| Genename | Variants |
|---|---|
| SH2D1B(NM_053282,SH2 domain containing 1B,132aa) | g.1:162367103G>T,c.366C>A,p.N122K |
| SH2D1A(NM_002351,SH2 domain containing 1A,128aa) | g.X:123504128G>A,c.304G>A,p.V102I |
| SH2D1A(NM_002351,SH2 domain containing 1A,128aa) | g.X:123480540C>T,c.48C>T,p.G16G |
| SH2D1A(NM_002351,SH2 domain containing 1A,128aa) | g.X:123480499G>T,c.7G>T,p.A3S |
| SH2B3(NM_005475,SH2B adaptor protein 3,575aa) | g.12:111886081T>C,c.1703T>C,p.I568T |
| SH2B3(NM_005475,SH2B adaptor protein 3,575aa) | g.12:111886029C>T,c.1651C>T,p.R551W |
| SH2B3(NM_005475,SH2B adaptor protein 3,575aa) | g.12:111885999C>T,c.1621C>T,p.H541Y |
| SH2B3(NM_005475,SH2B adaptor protein 3,575aa) | g.12:111885987A>G,c.1609A>G,p.N537D |
| SH2B3(NM_005475,SH2B adaptor protein 3,575aa) | g.12:111885984G>A,c.1606G>A,p.A536T |
| SH2B3(NM_005475,SH2B adaptor protein 3,575aa) | g.12:111885176C>T,c.1064C>T,p.T355M |
| SH2B3(NM_005475,SH2B adaptor protein 3,575aa) | g.12:111884608T>C,c.784T>C,p.W262R |
| SH2B3(NM_005475,SH2B adaptor protein 3,575aa) | g.12:111856673C>T,c.724C>T,p.P242S |
| SH2B3(NM_005475,SH2B adaptor protein 3,575aa) | g.12:111856571G>C,c.622G>C,p.E208Q |
| SH2B3(NM_005475,SH2B adaptor protein 3,575aa) | g.12:111856506G>T,c.557G>T,p.S186I |
| SH2B3(NM_005475,SH2B adaptor protein 3,575aa) | g.12:111856493T>C,c.544T>C,p.F182L |
| SH2B3(NM_005475,SH2B adaptor protein 3,575aa) | g.12:111856443C>G,c.494C>G,p.T165S |
| SH2B1(NM_015503,SH2B adaptor protein 1,671aa) | g.16:28884578C>T,c.1985C>T,p.A662V |
| SH2B1(NM_015503,SH2B adaptor protein 1,671aa) | g.16:28883241A>G,c.1450A>G,p.T484A |
| SH2B1(NM_015503,SH2B adaptor protein 1,671aa) | g.16:28883185T>C,c.1394T>C,p.M465T |
| SH2B1(NM_015503,SH2B adaptor protein 1,671aa) | g.16:28880693G>A,c.1298G>A,p.R433H |
| SGTB(NM_019072,small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta,304aa) | g.5:65008798G>A,c.194C>T,p.S65F |
| SGTB(NM_019072,small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta,304aa) | g.5:64976539A>T,c.562T>A,p.S188T |
| SGTA(NM_003021,small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha,313aa) | g.19:2769008C>T,c.59G>A,p.R20Q |
| SGTA(NM_003021,small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha,313aa) | g.19:2767615G>C,c.170C>G,p.T57S |
| SGTA(NM_003021,small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha,313aa) | g.19:2767594G>A,c.191C>T,p.A64V |
| SGTA(NM_003021,small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha,313aa) | g.19:2767173C>T,c.253G>A,p.E85K |
| SGTA(NM_003021,small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha,313aa) | g.19:2762605C>T,c.535G>A,p.V179M |
| SGTA(NM_003021,small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha,313aa) | g.19:2757760C>A,c.758G>T,p.G253V |