Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.50496087del | CA316191 | NRXN1 | c.2888del (p.His963LeufsTer29) n.864del n.1787del n.55del c.2042del (p.His681LeufsTer29) c.2033del (p.His678LeufsTer29) c.3008del (p.His1003LeufsTer29) c.2852del (p.His951LeufsTer29) c.2078del (p.His693LeufsTer29) c.2864del (p.His955LeufsTer29) c.2909del (p.His970LeufsTer29) c.2906del (p.His969LeufsTer29) c.2897del (p.His966LeufsTer29) c.2891del (p.His964LeufsTer29) c.2882del (p.His961LeufsTer29) c.2879del (p.His960LeufsTer29) c.2849del (p.His950LeufsTer29) c.2819del (p.His940LeufsTer29) c.2114del (p.His705LeufsTer29) c.2069del (p.His690LeufsTer29) c.1949del (p.His650LeufsTer29) c.2822del (p.His941LeufsTer29) c.2861del (p.His954LeufsTer29) c.2777del (p.His926LeufsTer29) c.2807del (p.His936LeufsTer29) c.2885del (p.His962LeufsTer29) c.2876del (p.His959LeufsTer29) c.2837del (p.His946LeufsTer29) c.2846del (p.His949LeufsTer29) c.2870del (p.His957LeufsTer29) | ClinVar dbSNP |
2 | g.50496087T= | CA1249594078 | NRXN1 | c.2888A= (p.His963=) n.864A= n.1787A= n.55A= c.2042A= (p.His681=) c.2033A= (p.His678=) c.3008A= (p.His1003=) c.2852A= (p.His951=) c.2078A= (p.His693=) c.2864A= (p.His955=) c.2909A= (p.His970=) c.2906A= (p.His969=) c.2897A= (p.His966=) c.2891A= (p.His964=) c.2882A= (p.His961=) c.2879A= (p.His960=) c.2849A= (p.His950=) c.2819A= (p.His940=) c.2114A= (p.His705=) c.2069A= (p.His690=) c.1949A= (p.His650=) c.2822A= (p.His941=) c.2861A= (p.His954=) c.2777A= (p.His926=) c.2807A= (p.His936=) c.2885A= (p.His962=) c.2876A= (p.His959=) c.2837A= (p.His946=) c.2846A= (p.His949=) c.2870A= (p.His957=) | dbSNP dbSNP |