Genename |
Variants |
ASB16(NM_080863,ankyrin repeat and SOCS box containing 16,453aa) |
g.17:42255642C>T,c.1246C>T,p.R416X |
ASB16(NM_080863,ankyrin repeat and SOCS box containing 16,453aa) |
g.17:42255004C>T,c.1090C>T,p.R364W |
ASB16(NM_080863,ankyrin repeat and SOCS box containing 16,453aa) |
g.17:42254527T>G,c.991T>G,p.S331A |
ASB16(NM_080863,ankyrin repeat and SOCS box containing 16,453aa) |
g.17:42254417A>G,c.881A>G,p.N294S |
ASB16(NM_080863,ankyrin repeat and SOCS box containing 16,453aa) |
g.17:42254281A>G,c.745A>G,p.T249A |
ASB16(NM_080863,ankyrin repeat and SOCS box containing 16,453aa) |
g.17:42254236G>A,c.700G>A,p.A234T |
ASB16(NM_080863,ankyrin repeat and SOCS box containing 16,453aa) |
g.17:42254204A>G,c.668A>G,p.E223G |
ASB16(NM_080863,ankyrin repeat and SOCS box containing 16,453aa) |
g.17:42254165A>G,c.629A>G,p.Q210R |
ASB16(NM_080863,ankyrin repeat and SOCS box containing 16,453aa) |
g.17:42249506C>T,c.394C>T,p.R132W |
ASB16(NM_080863,ankyrin repeat and SOCS box containing 16,453aa) |
g.17:42249473C>T,c.361C>T,p.R121X |
ASB16(NM_080863,ankyrin repeat and SOCS box containing 16,453aa) |
g.17:42248346A>T,c.189A>T,p.Q63H |
ASB16(NM_080863,ankyrin repeat and SOCS box containing 16,453aa) |
g.17:42248296G>A,c.139G>A,p.A47T |
ASB15(NM_080928,ankyrin repeat and SOCS box containing 15,588aa) |
g.7:123276941C>T,c.1673C>T,p.A558V |
ASB15(NM_080928,ankyrin repeat and SOCS box containing 15,588aa) |
g.7:123269333G>A,c.1285G>A,p.E429K |
ASB15(NM_080928,ankyrin repeat and SOCS box containing 15,588aa) |
g.7:123269118G>C,c.1070G>C,p.G357A |
ASB15(NM_080928,ankyrin repeat and SOCS box containing 15,588aa) |
g.7:123268962G>A,c.914G>A,p.R305Q |
ASB15(NM_080928,ankyrin repeat and SOCS box containing 15,588aa) |
g.7:123267322G>A,c.856G>A,p.E286K |
ASB15(NM_080928,ankyrin repeat and SOCS box containing 15,588aa) |
g.7:123267310C>T,c.844C>T,p.R282X |
ASB15(NM_080928,ankyrin repeat and SOCS box containing 15,588aa) |
g.7:123267186del,c.720del,p.240fs |
ASB15(NM_080928,ankyrin repeat and SOCS box containing 15,588aa) |
g.7:123264622G>C,c.452-1G>C,p.151Acceptor |
ASB15(NM_080928,ankyrin repeat and SOCS box containing 15,588aa) |
g.7:123256453A>G,c.196A>G,p.K66E |
ASB15(NM_080928,ankyrin repeat and SOCS box containing 15,588aa) |
g.7:123256427C>T,c.170C>T,p.P57L |
ASB15(NM_080928,ankyrin repeat and SOCS box containing 15,588aa) |
g.7:123256307T>C,c.140T>C,p.L47P |
ASB14(NM_001142733,ankyrin repeat and SOCS box containing 14,587aa) |
g.3:57326005del,c.57del,p.19fs |
ASB14(NM_001142733,ankyrin repeat and SOCS box containing 14,587aa) |
g.3:57322042G>A,c.356C>T,p.T119M |
ASB14(NM_001142733,ankyrin repeat and SOCS box containing 14,587aa) |
g.3:57317401C>T,c.536G>A,p.R179H |
ASB14(NM_001142733,ankyrin repeat and SOCS box containing 14,587aa) |
g.3:57312818C>T,c.1018G>A,p.V340M |
ASB14(NM_001142733,ankyrin repeat and SOCS box containing 14,587aa) |
g.3:57312587T>A,c.1249A>T,p.R417X |