Entrez_Gene_（基因ID）HUGO_Symbol Entrez_Protein_（GI）Protein_Accession Chosen_Mutation_ID HGVS突变_Class突变_Source Disease OMIM_Link Swiss-Prot_Link dbSNP_Link2670 GFAP 121135 P14136 VAR_017464，VAR_07465，VAR_17466，VAR_017467，VARO_017468，VAR_D17469，VAR_d17470，VAR:017471，VAR_ 017472，VAR_R017473，VAR_n17474，VAR_E17475，VAR__ 017476，VAR0 17477，VAR.0 17478，VAR\017479 p.疾病瑞士-疾病-病毒NULL 203450 VAR_017664，VAR _017465，VAR _17466，VAR_017474、VAR_07475、VAR_17476、VAR_017477、VARO_17478、VAR_ 017479 rs57474185、rs57120761、rs58732244、rs59793293、rs59285727、rs61622935、rs58064122、rs59565950、rs61497286、rs61726468、rs28932768、rs569084、rs11266422670 GFAP 121135 P14136 rs1126642页。ASP295ASN多态性dbSNP NULL NULL rs11266422670 GFAP 196115290 NP_001124491 rs1126642页。ASP295ASN多态性dbSNP NULL NULL rs11266422670 GFAP 196115290 NP_001124491 rs9916491第页。THR426ALA多态性dbSNP NULL NULL rs99164912670 GFAP 196115290 NP_001124491 rs9908084页。THR426MET多态性dbSNP NULL NULL rs99080842670 GFAP 334688844 NP_001229305 rs1126642页。ASP295ASN多态性dbSNP NULL NULL rs11266422670 GFAP 121135 P14136 137780.0001页。ARG239CYS疾病OMIM ALEXANDER疾病137780.0001 NULL NULL2670 GFAP 121135 P14136 137780.0005页。ARG79CYS病OMIM ALEXANDER病137780.0005 NULL NULL2670 GFAP 121135 P14136 137780.0006页。ARG88CYS病OMIM ALEXANDER病137780.0006 NULL NULL2670 GFAP 121135 P14136 137780.0002页。ARG239HIS病OMIM ALEXANDER病137780.0002 NULL NULL2670 GFAP 121135 P14136 137780.0004页。ARG79HIS病OMIM ALEXANDER病137780.0004 NULL NULL2670 GFAP 121135 P14136 137780.0011页。ARG276LEU病OMIM ALEXANDER病137780.0011 NULL NULL2670 GFAP 121135 P14136 137780.0007页。ARG88SER疾病OMIM ALEXANDER疾病137780.0007 NULL NULL2670总建筑面积121135 P14136 137780.0003页。ARG1TRP病OMIM ALEXANDER病137780.0003 NULL NULL2670 GFAP 121135 P14136 137780.0009页。ASN77TYR病OMIM ALEXANDER病137780.0009 NULL NULL2670 GFAP 121135 P14136 137780.0013页。ASP78GLU病OMIM ALEXANDER病137780.0013 NULL NULL2670 GFAP 121135 P14136 137780.0010页。GLU362ASP病OMIM ALEXANDER病137780.0010 NULL NULL2670 GFAP 121135 P14136 137780.0008页。LEU76PHE病OMIM ALEXANDER病137780.0008 NULL NULL2670 GFAP 121135 P14136 137780.0012页。LEU352PRO病OMIM ALEXANDER病137780.0012 NULL NULL2670 GFAP 196115290 NP_001124491 137780.0001页。ARG239CYS病OMIM ALEXANDER病137780.0001 NULL NULL2670 GFAP 196115290 NP_001124491 137780.0005页。ARG79CYS病OMIM ALEXANDER病137780.0005 NULL NULL2670 GFAP 196115290 NP_001124491 137780.0006页。ARG88CYS病OMIM ALEXANDER病137780.0006 NULL NULL2670 GFAP 196115290 NP_001124491 137780.0002页。ARG239HIS病OMIM ALEXANDER病137780.0002 NULL NULL2670 GFAP 196115290 NP_001124491 137780.0004页。ARG79HIS病OMIM ALEXANDER病137780.0004 NULL NULL2670 GFAP 196115290 NP_001124491 137780.0011页。ARG276LEU病OMIM ALEXANDER病137780.0011 NULL NULL2670 GFAP 196115290 NP_001124491 137780.0007页。ARG88SER疾病OMIM ALEXANDER疾病137780.0007 NULL NULL2670 GFAP 196115290 NP_001124491 137780.0003页。ARG1TRP病OMIM ALEXANDER病137780.0003 NULL NULL2670 GFAP 196115290 NP_001124491 137780.0009页。ASN77TYR病OMIM ALEXANDER病137780.0009 NULL NULL2670 GFAP 196115290 NP_001124491 137780.0013页。ASP78GLU病OMIM ALEXANDER病137780.0013 NULL NULL2670 GFAP 196115290 NP_001124491 137780.0010页。GLU362ASP病OMIM ALEXANDER病137780.0010 NULL NULL2670 GFAP 196115290 NP_001124491 137780.0008页。LEU76PHE病OMIM ALEXANDER病137780.0008 NULL NULL2670 GFAP 196115290 NP_001124491 137780.0012页。LEU352PRO疾病OMIM ALEXANDER疾病137780.0012 NULL NULL NULL2670总建筑面积334688844 NP_001229305 137780.0001页。ARG239CYS病OMIM ALEXANDER病137780.0001 NULL NULL2670 GFAP 334688844 NP_001229305 137780.0005页。ARG79CYS病OMIM ALEXANDER病137780.0005 NULL NULL2670 GFAP 334688844 NP_001229305 137780.0006页。ARG88CYS病OMIM ALEXANDER病137780.0006 NULL NULL2670 GFAP 334688844 NP_001229305 137780.0002页。ARG239HIS病OMIM ALEXANDER病137780.0002 NULL NULL2670 GFAP 334688844 NP_001229305 137780.0004页。ARG79HIS病OMIM ALEXANDER病137780.0004 NULL NULL2670 GFAP 334688844 NP_001229305 137780.0011页。ARG276LEU病OMIM ALEXANDER病137780.0011 NULL NULL2670 GFAP 334688844 NP_001229305 137780.0007页。ARG88SER病OMIM ALEXANDER病137780.0007 NULL NULL2670 GFAP 334688844 NP_001229305 137780.0003页。ARG416TRP病OMIM ALEXANDER病137780.0003 NULL NULL2670 GFAP 334688844 NP_001229305 137780.0009页。ASN77TYR病OMIM ALEXANDER病137780.0009 NULL NULL2670 GFAP 334688844 NP_001229305 137780.0013页。ASP78GLU病OMIM ALEXANDER病137780.0013 NULL NULL2670 GFAP 334688844 NP_001229305 137780.0010页。GLU362ASP病OMIM ALEXANDER病137780.0010 NULL NULL2670 GFAP 334688844 NP_001229305 137780.0008页。LEU76PHE病OMIM ALEXANDER病137780.0008 NULL NULL2670 GFAP 334688844 NP_001229305 137780.0012页。LEU352PRO疾病OMIM ALEXANDER疾病137780.0012 NULL NULL NULL