Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.99699131_99699148delinsCTTTTTTTTTTTTTTTTT | CA1805814107 | VPS13B | c.6122-394_6122-377delinsCTTTTTTTTTTTTTTTTT (n.6122-394_6122-377delinsCTTTTTTTTTTTTTTTTT) n.6192-394_6192-377delinsCTTTTTTTTTTTTTTTTT c.*1804-394_*1804-377delinsCTTTTTTTTTTTTTTTTT (n.*1804-394_*1804-377delinsCTTTTTTTTTTTTTTTTT) c.6047-394_6047-377delinsCTTTTTTTTTTTTTTTTT (n.6047-394_6047-377delinsCTTTTTTTTTTTTTTTTT) c.6119-394_6119-377delinsCTTTTTTTTTTTTTTTTT (n.6119-394_6119-377delinsCTTTTTTTTTTTTTTTTT) c.6044-394_6044-377delinsCTTTTTTTTTTTTTTTTT (n.6044-394_6044-377delinsCTTTTTTTTTTTTTTTTT) c.5744-394_5744-377delinsCTTTTTTTTTTTTTTTTT (n.5744-394_5744-377delinsCTTTTTTTTTTTTTTTTT) c.3008-394_3008-377delinsCTTTTTTTTTTTTTTTTT (n.3008-394_3008-377delinsCTTTTTTTTTTTTTTTTT) c.1901-394_1901-377delinsCTTTTTTTTTTTTTTTTT (n.1901-394_1901-377delinsCTTTTTTTTTTTTTTTTT) c.5927-394_5927-377delinsCTTTTTTTTTTTTTTTTT (n.5927-394_5927-377delinsCTTTTTTTTTTTTTTTTT) c.1679-394_1679-377delinsCTTTTTTTTTTTTTTTTT (n.1679-394_1679-377delinsCTTTTTTTTTTTTTTTTT) c.4907-394_4907-377delinsCTTTTTTTTTTTTTTTTT (n.4907-394_4907-377delinsCTTTTTTTTTTTTTTTTT) n.6083-394_6083-377delinsCTTTTTTTTTTTTTTTTT | |
8 | g.99699155_99699156insTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1117103411 | VPS13B | c.6122-370_6122-369insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6122-370_6122-369insTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6192-370_6192-369insTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1804-370_*1804-369insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1804-370_*1804-369insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6047-370_6047-369insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6047-370_6047-369insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6119-370_6119-369insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6119-370_6119-369insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6044-370_6044-369insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6044-370_6044-369insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.5744-370_5744-369insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.5744-370_5744-369insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.3008-370_3008-369insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3008-370_3008-369insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1901-370_1901-369insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1901-370_1901-369insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.5927-370_5927-369insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.5927-370_5927-369insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1679-370_1679-369insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1679-370_1679-369insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.4907-370_4907-369insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.4907-370_4907-369insTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6083-370_6083-369insTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
8 | g.99699155_99699156insTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1117103485 | VPS13B | c.6122-370_6122-369insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6122-370_6122-369insTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6192-370_6192-369insTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1804-370_*1804-369insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1804-370_*1804-369insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6047-370_6047-369insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6047-370_6047-369insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6119-370_6119-369insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6119-370_6119-369insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6044-370_6044-369insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6044-370_6044-369insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.5744-370_5744-369insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.5744-370_5744-369insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.3008-370_3008-369insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3008-370_3008-369insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1901-370_1901-369insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1901-370_1901-369insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.5927-370_5927-369insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.5927-370_5927-369insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1679-370_1679-369insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1679-370_1679-369insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.4907-370_4907-369insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.4907-370_4907-369insTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6083-370_6083-369insTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
8 | g.99699155_99699156insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1117103488 | VPS13B | c.6122-370_6122-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6122-370_6122-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6192-370_6192-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1804-370_*1804-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1804-370_*1804-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6047-370_6047-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6047-370_6047-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6119-370_6119-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6119-370_6119-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6044-370_6044-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6044-370_6044-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.5744-370_5744-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.5744-370_5744-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.3008-370_3008-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3008-370_3008-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1901-370_1901-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1901-370_1901-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.5927-370_5927-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.5927-370_5927-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1679-370_1679-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1679-370_1679-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.4907-370_4907-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.4907-370_4907-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6083-370_6083-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699155_99699156insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1117103457 | VPS13B | c.6122-370_6122-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6122-370_6122-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6192-370_6192-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1804-370_*1804-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1804-370_*1804-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6047-370_6047-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6047-370_6047-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6119-370_6119-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6119-370_6119-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6044-370_6044-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6044-370_6044-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.5744-370_5744-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.5744-370_5744-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.3008-370_3008-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3008-370_3008-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1901-370_1901-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1901-370_1901-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.5927-370_5927-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.5927-370_5927-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1679-370_1679-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1679-370_1679-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.4907-370_4907-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.4907-370_4907-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6083-370_6083-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | |
8 | g.99699155_99699156insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT | CA1117103492 | VPS13B | c.6122-370_6122-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.6122-370_6122-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT) n.6192-370_6192-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT c.*1804-370_*1804-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1804-370_*1804-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT) c.6047-370_6047-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.6047-370_6047-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT) c.6119-370_6119-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.6119-370_6119-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT) c.6044-370_6044-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.6044-370_6044-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT) c.5744-370_5744-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.5744-370_5744-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT) c.3008-370_3008-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.3008-370_3008-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT) c.1901-370_1901-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.1901-370_1901-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT) c.5927-370_5927-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.5927-370_5927-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT) c.1679-370_1679-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.1679-370_1679-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT) c.4907-370_4907-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.4907-370_4907-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT) n.6083-370_6083-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
8 | g.99699155_99699156insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1117103504 | VPS13B | c.6122-370_6122-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6122-370_6122-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6192-370_6192-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1804-370_*1804-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1804-370_*1804-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6047-370_6047-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6047-370_6047-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6119-370_6119-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6119-370_6119-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6044-370_6044-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6044-370_6044-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.5744-370_5744-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.5744-370_5744-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.3008-370_3008-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3008-370_3008-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1901-370_1901-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1901-370_1901-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.5927-370_5927-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.5927-370_5927-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1679-370_1679-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1679-370_1679-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.4907-370_4907-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.4907-370_4907-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6083-370_6083-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
8 | g.99699155_99699156insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1117103434 | VPS13B | c.6122-370_6122-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6122-370_6122-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6192-370_6192-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1804-370_*1804-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1804-370_*1804-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6047-370_6047-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6047-370_6047-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6119-370_6119-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6119-370_6119-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6044-370_6044-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6044-370_6044-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.5744-370_5744-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.5744-370_5744-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.3008-370_3008-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3008-370_3008-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1901-370_1901-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1901-370_1901-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.5927-370_5927-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.5927-370_5927-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1679-370_1679-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1679-370_1679-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.4907-370_4907-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.4907-370_4907-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6083-370_6083-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
8 | g.99699155_99699156insTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1117103417 | VPS13B | c.6122-370_6122-369insTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6122-370_6122-369insTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6192-370_6192-369insTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1804-370_*1804-369insTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1804-370_*1804-369insTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6047-370_6047-369insTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6047-370_6047-369insTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6119-370_6119-369insTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6119-370_6119-369insTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6044-370_6044-369insTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6044-370_6044-369insTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.5744-370_5744-369insTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.5744-370_5744-369insTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.3008-370_3008-369insTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3008-370_3008-369insTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1901-370_1901-369insTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1901-370_1901-369insTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.5927-370_5927-369insTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.5927-370_5927-369insTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1679-370_1679-369insTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1679-370_1679-369insTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.4907-370_4907-369insTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.4907-370_4907-369insTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6083-370_6083-369insTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
8 | g.99699155_99699156insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1117103426 | VPS13B | c.6122-370_6122-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6122-370_6122-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6192-370_6192-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1804-370_*1804-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1804-370_*1804-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6047-370_6047-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6047-370_6047-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6119-370_6119-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6119-370_6119-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6044-370_6044-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6044-370_6044-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.5744-370_5744-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.5744-370_5744-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.3008-370_3008-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3008-370_3008-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1901-370_1901-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1901-370_1901-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.5927-370_5927-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.5927-370_5927-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1679-370_1679-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1679-370_1679-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.4907-370_4907-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.4907-370_4907-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6083-370_6083-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699155_99699156insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1117103432 | VPS13B | c.6122-370_6122-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6122-370_6122-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6192-370_6192-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1804-370_*1804-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1804-370_*1804-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6047-370_6047-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6047-370_6047-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6119-370_6119-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6119-370_6119-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6044-370_6044-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6044-370_6044-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.5744-370_5744-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.5744-370_5744-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.3008-370_3008-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3008-370_3008-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1901-370_1901-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1901-370_1901-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.5927-370_5927-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.5927-370_5927-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1679-370_1679-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1679-370_1679-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.4907-370_4907-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.4907-370_4907-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6083-370_6083-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
8 | g.99699155_99699156insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1117103429 | VPS13B | c.6122-370_6122-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6122-370_6122-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6192-370_6192-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1804-370_*1804-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1804-370_*1804-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6047-370_6047-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6047-370_6047-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6119-370_6119-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6119-370_6119-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6044-370_6044-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6044-370_6044-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.5744-370_5744-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.5744-370_5744-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.3008-370_3008-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3008-370_3008-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1901-370_1901-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1901-370_1901-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.5927-370_5927-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.5927-370_5927-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1679-370_1679-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1679-370_1679-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.4907-370_4907-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.4907-370_4907-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6083-370_6083-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
8 | g.99699155_99699156insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1117103430 | VPS13B | c.6122-370_6122-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6122-370_6122-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6192-370_6192-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1804-370_*1804-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1804-370_*1804-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6047-370_6047-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6047-370_6047-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6119-370_6119-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6119-370_6119-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6044-370_6044-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6044-370_6044-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.5744-370_5744-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.5744-370_5744-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.3008-370_3008-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3008-370_3008-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1901-370_1901-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1901-370_1901-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.5927-370_5927-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.5927-370_5927-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1679-370_1679-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1679-370_1679-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.4907-370_4907-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.4907-370_4907-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6083-370_6083-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
8 | g.99699155_99699156insTTTTTTTTTTTTTTTTTTTTTATTTATTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2781476338 | VPS13B | c.6122-370_6122-369insTTTTTTTTTTTTTTTTTTTTTATTTATTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6122-370_6122-369insTTTTTTTTTTTTTTTTTTTTTATTTATTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6192-370_6192-369insTTTTTTTTTTTTTTTTTTTTTATTTATTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1804-370_*1804-369insTTTTTTTTTTTTTTTTTTTTTATTTATTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1804-370_*1804-369insTTTTTTTTTTTTTTTTTTTTTATTTATTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6047-370_6047-369insTTTTTTTTTTTTTTTTTTTTTATTTATTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6047-370_6047-369insTTTTTTTTTTTTTTTTTTTTTATTTATTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6119-370_6119-369insTTTTTTTTTTTTTTTTTTTTTATTTATTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6119-370_6119-369insTTTTTTTTTTTTTTTTTTTTTATTTATTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6044-370_6044-369insTTTTTTTTTTTTTTTTTTTTTATTTATTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6044-370_6044-369insTTTTTTTTTTTTTTTTTTTTTATTTATTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.5744-370_5744-369insTTTTTTTTTTTTTTTTTTTTTATTTATTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.5744-370_5744-369insTTTTTTTTTTTTTTTTTTTTTATTTATTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.3008-370_3008-369insTTTTTTTTTTTTTTTTTTTTTATTTATTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3008-370_3008-369insTTTTTTTTTTTTTTTTTTTTTATTTATTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1901-370_1901-369insTTTTTTTTTTTTTTTTTTTTTATTTATTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1901-370_1901-369insTTTTTTTTTTTTTTTTTTTTTATTTATTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.5927-370_5927-369insTTTTTTTTTTTTTTTTTTTTTATTTATTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.5927-370_5927-369insTTTTTTTTTTTTTTTTTTTTTATTTATTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1679-370_1679-369insTTTTTTTTTTTTTTTTTTTTTATTTATTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1679-370_1679-369insTTTTTTTTTTTTTTTTTTTTTATTTATTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.4907-370_4907-369insTTTTTTTTTTTTTTTTTTTTTATTTATTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.4907-370_4907-369insTTTTTTTTTTTTTTTTTTTTTATTTATTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6083-370_6083-369insTTTTTTTTTTTTTTTTTTTTTATTTATTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT | |
8 | g.99699155_99699156insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTGTTTATTAATTAAATTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1117103424 | VPS13B | c.6122-370_6122-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTGTTTATTAATTAAATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6122-370_6122-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTGTTTATTAATTAAATTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6192-370_6192-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTGTTTATTAATTAAATTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1804-370_*1804-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTGTTTATTAATTAAATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1804-370_*1804-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTGTTTATTAATTAAATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6047-370_6047-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTGTTTATTAATTAAATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6047-370_6047-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTGTTTATTAATTAAATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6119-370_6119-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTGTTTATTAATTAAATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6119-370_6119-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTGTTTATTAATTAAATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.6044-370_6044-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTGTTTATTAATTAAATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.6044-370_6044-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTGTTTATTAATTAAATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.5744-370_5744-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTGTTTATTAATTAAATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.5744-370_5744-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTGTTTATTAATTAAATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.3008-370_3008-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTGTTTATTAATTAAATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3008-370_3008-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTGTTTATTAATTAAATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1901-370_1901-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTGTTTATTAATTAAATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1901-370_1901-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTGTTTATTAATTAAATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.5927-370_5927-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTGTTTATTAATTAAATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.5927-370_5927-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTGTTTATTAATTAAATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1679-370_1679-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTGTTTATTAATTAAATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1679-370_1679-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTGTTTATTAATTAAATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.4907-370_4907-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTGTTTATTAATTAAATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.4907-370_4907-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTGTTTATTAATTAAATTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6083-370_6083-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTGTTTATTAATTAAATTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
8 | g.99699155dup | CA183025186 | VPS13B | c.6122-370dup (n.6122-370dup) n.6192-370dup c.*1804-370dup (n.*1804-370dup) c.6047-370dup (n.6047-370dup) c.6119-370dup (n.6119-370dup) c.6044-370dup (n.6044-370dup) c.5744-370dup (n.5744-370dup) c.3008-370dup (n.3008-370dup) c.1901-370dup (n.1901-370dup) c.5927-370dup (n.5927-370dup) c.1679-370dup (n.1679-370dup) c.4907-370dup (n.4907-370dup) n.6083-370dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699154_99699155dup | CA583878327 | VPS13B | c.6122-371_6122-370dup (n.6122-371_6122-370dup) n.6192-371_6192-370dup c.*1804-371_*1804-370dup (n.*1804-371_*1804-370dup) c.6047-371_6047-370dup (n.6047-371_6047-370dup) c.6119-371_6119-370dup (n.6119-371_6119-370dup) c.6044-371_6044-370dup (n.6044-371_6044-370dup) c.5744-371_5744-370dup (n.5744-371_5744-370dup) c.3008-371_3008-370dup (n.3008-371_3008-370dup) c.1901-371_1901-370dup (n.1901-371_1901-370dup) c.5927-371_5927-370dup (n.5927-371_5927-370dup) c.1679-371_1679-370dup (n.1679-371_1679-370dup) c.4907-371_4907-370dup (n.4907-371_4907-370dup) n.6083-371_6083-370dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699153_99699155dup | CA1117103460 | VPS13B | c.6122-372_6122-370dup (n.6122-372_6122-370dup) n.6192-372_6192-370dup c.*1804-372_*1804-370dup (n.*1804-372_*1804-370dup) c.6047-372_6047-370dup (n.6047-372_6047-370dup) c.6119-372_6119-370dup (n.6119-372_6119-370dup) c.6044-372_6044-370dup (n.6044-372_6044-370dup) c.5744-372_5744-370dup (n.5744-372_5744-370dup) c.3008-372_3008-370dup (n.3008-372_3008-370dup) c.1901-372_1901-370dup (n.1901-372_1901-370dup) c.5927-372_5927-370dup (n.5927-372_5927-370dup) c.1679-372_1679-370dup (n.1679-372_1679-370dup) c.4907-372_4907-370dup (n.4907-372_4907-370dup) n.6083-372_6083-370dup | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699152_99699155dup | CA857579729 | VPS13B | c.6122-373_6122-370dup (n.6122-373_6122-370dup) n.6192-373_6192-370dup c.*1804-373_*1804-370dup (n.*1804-373_*1804-370dup) c.6047-373_6047-370dup (n.6047-373_6047-370dup) c.6119-373_6119-370dup (n.6119-373_6119-370dup) c.6044-373_6044-370dup (n.6044-373_6044-370dup) c.5744-373_5744-370dup (n.5744-373_5744-370dup) c.3008-373_3008-370dup (n.3008-373_3008-370dup) c.1901-373_1901-370dup (n.1901-373_1901-370dup) c.5927-373_5927-370dup (n.5927-373_5927-370dup) c.1679-373_1679-370dup (n.1679-373_1679-370dup) c.4907-373_4907-370dup (n.4907-373_4907-370dup) n.6083-373_6083-370dup | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699151_99699155dup | CA1117103461 | VPS13B | c.6122-374_6122-370dup (n.6122-374_6122-370dup) n.6192-374_6192-370dup c.*1804-374_*1804-370dup (n.*1804-374_*1804-370dup) c.6047-374_6047-370dup (n.6047-374_6047-370dup) c.6119-374_6119-370dup (n.6119-374_6119-370dup) c.6044-374_6044-370dup (n.6044-374_6044-370dup) c.5744-374_5744-370dup (n.5744-374_5744-370dup) c.3008-374_3008-370dup (n.3008-374_3008-370dup) c.1901-374_1901-370dup (n.1901-374_1901-370dup) c.5927-374_5927-370dup (n.5927-374_5927-370dup) c.1679-374_1679-370dup (n.1679-374_1679-370dup) c.4907-374_4907-370dup (n.4907-374_4907-370dup) n.6083-374_6083-370dup | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699150_99699155dup | CA1117103462 | VPS13B | c.6122-375_6122-370dup (n.6122-375_6122-370dup) n.6192-375_6192-370dup c.*1804-375_*1804-370dup (n.*1804-375_*1804-370dup) c.6047-375_6047-370dup (n.6047-375_6047-370dup) c.6119-375_6119-370dup (n.6119-375_6119-370dup) c.6044-375_6044-370dup (n.6044-375_6044-370dup) c.5744-375_5744-370dup (n.5744-375_5744-370dup) c.3008-375_3008-370dup (n.3008-375_3008-370dup) c.1901-375_1901-370dup (n.1901-375_1901-370dup) c.5927-375_5927-370dup (n.5927-375_5927-370dup) c.1679-375_1679-370dup (n.1679-375_1679-370dup) c.4907-375_4907-370dup (n.4907-375_4907-370dup) n.6083-375_6083-370dup | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699149_99699155dup | CA1117103463 | VPS13B | c.6122-376_6122-370dup (n.6122-376_6122-370dup) n.6192-376_6192-370dup c.*1804-376_*1804-370dup (n.*1804-376_*1804-370dup) c.6047-376_6047-370dup (n.6047-376_6047-370dup) c.6119-376_6119-370dup (n.6119-376_6119-370dup) c.6044-376_6044-370dup (n.6044-376_6044-370dup) c.5744-376_5744-370dup (n.5744-376_5744-370dup) c.3008-376_3008-370dup (n.3008-376_3008-370dup) c.1901-376_1901-370dup (n.1901-376_1901-370dup) c.5927-376_5927-370dup (n.5927-376_5927-370dup) c.1679-376_1679-370dup (n.1679-376_1679-370dup) c.4907-376_4907-370dup (n.4907-376_4907-370dup) n.6083-376_6083-370dup | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699148_99699155dup | CA1117103464 | VPS13B | c.6122-377_6122-370dup (n.6122-377_6122-370dup) n.6192-377_6192-370dup c.*1804-377_*1804-370dup (n.*1804-377_*1804-370dup) c.6047-377_6047-370dup (n.6047-377_6047-370dup) c.6119-377_6119-370dup (n.6119-377_6119-370dup) c.6044-377_6044-370dup (n.6044-377_6044-370dup) c.5744-377_5744-370dup (n.5744-377_5744-370dup) c.3008-377_3008-370dup (n.3008-377_3008-370dup) c.1901-377_1901-370dup (n.1901-377_1901-370dup) c.5927-377_5927-370dup (n.5927-377_5927-370dup) c.1679-377_1679-370dup (n.1679-377_1679-370dup) c.4907-377_4907-370dup (n.4907-377_4907-370dup) n.6083-377_6083-370dup | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699147_99699155dup | CA1117103465 | VPS13B | c.6122-378_6122-370dup (n.6122-378_6122-370dup) n.6192-378_6192-370dup c.*1804-378_*1804-370dup (n.*1804-378_*1804-370dup) c.6047-378_6047-370dup (n.6047-378_6047-370dup) c.6119-378_6119-370dup (n.6119-378_6119-370dup) c.6044-378_6044-370dup (n.6044-378_6044-370dup) c.5744-378_5744-370dup (n.5744-378_5744-370dup) c.3008-378_3008-370dup (n.3008-378_3008-370dup) c.1901-378_1901-370dup (n.1901-378_1901-370dup) c.5927-378_5927-370dup (n.5927-378_5927-370dup) c.1679-378_1679-370dup (n.1679-378_1679-370dup) c.4907-378_4907-370dup (n.4907-378_4907-370dup) n.6083-378_6083-370dup | gnomAD v3 gnomAD v4 |
8 | g.99699146_99699155dup | CA1117103467 | VPS13B | c.6122-379_6122-370dup (n.6122-379_6122-370dup) n.6192-379_6192-370dup c.*1804-379_*1804-370dup (n.*1804-379_*1804-370dup) c.6047-379_6047-370dup (n.6047-379_6047-370dup) c.6119-379_6119-370dup (n.6119-379_6119-370dup) c.6044-379_6044-370dup (n.6044-379_6044-370dup) c.5744-379_5744-370dup (n.5744-379_5744-370dup) c.3008-379_3008-370dup (n.3008-379_3008-370dup) c.1901-379_1901-370dup (n.1901-379_1901-370dup) c.5927-379_5927-370dup (n.5927-379_5927-370dup) c.1679-379_1679-370dup (n.1679-379_1679-370dup) c.4907-379_4907-370dup (n.4907-379_4907-370dup) n.6083-379_6083-370dup | gnomAD v3 gnomAD v4 |
8 | g.99699145_99699155dup | CA1117103470 | VPS13B | c.6122-380_6122-370dup (n.6122-380_6122-370dup) n.6192-380_6192-370dup c.*1804-380_*1804-370dup (n.*1804-380_*1804-370dup) c.6047-380_6047-370dup (n.6047-380_6047-370dup) c.6119-380_6119-370dup (n.6119-380_6119-370dup) c.6044-380_6044-370dup (n.6044-380_6044-370dup) c.5744-380_5744-370dup (n.5744-380_5744-370dup) c.3008-380_3008-370dup (n.3008-380_3008-370dup) c.1901-380_1901-370dup (n.1901-380_1901-370dup) c.5927-380_5927-370dup (n.5927-380_5927-370dup) c.1679-380_1679-370dup (n.1679-380_1679-370dup) c.4907-380_4907-370dup (n.4907-380_4907-370dup) n.6083-380_6083-370dup | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699144_99699155dup | CA1117103471 | VPS13B | c.6122-381_6122-370dup (n.6122-381_6122-370dup) n.6192-381_6192-370dup c.*1804-381_*1804-370dup (n.*1804-381_*1804-370dup) c.6047-381_6047-370dup (n.6047-381_6047-370dup) c.6119-381_6119-370dup (n.6119-381_6119-370dup) c.6044-381_6044-370dup (n.6044-381_6044-370dup) c.5744-381_5744-370dup (n.5744-381_5744-370dup) c.3008-381_3008-370dup (n.3008-381_3008-370dup) c.1901-381_1901-370dup (n.1901-381_1901-370dup) c.5927-381_5927-370dup (n.5927-381_5927-370dup) c.1679-381_1679-370dup (n.1679-381_1679-370dup) c.4907-381_4907-370dup (n.4907-381_4907-370dup) n.6083-381_6083-370dup | gnomAD v3 gnomAD v4 |
8 | g.99699139_99699155dup | CA1117103473 | VPS13B | c.6122-386_6122-370dup (n.6122-386_6122-370dup) n.6192-386_6192-370dup c.*1804-386_*1804-370dup (n.*1804-386_*1804-370dup) c.6047-386_6047-370dup (n.6047-386_6047-370dup) c.6119-386_6119-370dup (n.6119-386_6119-370dup) c.6044-386_6044-370dup (n.6044-386_6044-370dup) c.5744-386_5744-370dup (n.5744-386_5744-370dup) c.3008-386_3008-370dup (n.3008-386_3008-370dup) c.1901-386_1901-370dup (n.1901-386_1901-370dup) c.5927-386_5927-370dup (n.5927-386_5927-370dup) c.1679-386_1679-370dup (n.1679-386_1679-370dup) c.4907-386_4907-370dup (n.4907-386_4907-370dup) n.6083-386_6083-370dup | gnomAD v3 gnomAD v4 |
8 | g.99699135_99699155dup | CA1117103477 | VPS13B | c.6122-390_6122-370dup (n.6122-390_6122-370dup) n.6192-390_6192-370dup c.*1804-390_*1804-370dup (n.*1804-390_*1804-370dup) c.6047-390_6047-370dup (n.6047-390_6047-370dup) c.6119-390_6119-370dup (n.6119-390_6119-370dup) c.6044-390_6044-370dup (n.6044-390_6044-370dup) c.5744-390_5744-370dup (n.5744-390_5744-370dup) c.3008-390_3008-370dup (n.3008-390_3008-370dup) c.1901-390_1901-370dup (n.1901-390_1901-370dup) c.5927-390_5927-370dup (n.5927-390_5927-370dup) c.1679-390_1679-370dup (n.1679-390_1679-370dup) c.4907-390_4907-370dup (n.4907-390_4907-370dup) n.6083-390_6083-370dup | |
8 | g.99699134_99699155dup | CA1117103479 | VPS13B | c.6122-391_6122-370dup (n.6122-391_6122-370dup) n.6192-391_6192-370dup c.*1804-391_*1804-370dup (n.*1804-391_*1804-370dup) c.6047-391_6047-370dup (n.6047-391_6047-370dup) c.6119-391_6119-370dup (n.6119-391_6119-370dup) c.6044-391_6044-370dup (n.6044-391_6044-370dup) c.5744-391_5744-370dup (n.5744-391_5744-370dup) c.3008-391_3008-370dup (n.3008-391_3008-370dup) c.1901-391_1901-370dup (n.1901-391_1901-370dup) c.5927-391_5927-370dup (n.5927-391_5927-370dup) c.1679-391_1679-370dup (n.1679-391_1679-370dup) c.4907-391_4907-370dup (n.4907-391_4907-370dup) n.6083-391_6083-370dup | gnomAD v3 gnomAD v4 |
8 | g.99699133_99699155dup | CA1117103480 | VPS13B | c.6122-392_6122-370dup (n.6122-392_6122-370dup) n.6192-392_6192-370dup c.*1804-392_*1804-370dup (n.*1804-392_*1804-370dup) c.6047-392_6047-370dup (n.6047-392_6047-370dup) c.6119-392_6119-370dup (n.6119-392_6119-370dup) c.6044-392_6044-370dup (n.6044-392_6044-370dup) c.5744-392_5744-370dup (n.5744-392_5744-370dup) c.3008-392_3008-370dup (n.3008-392_3008-370dup) c.1901-392_1901-370dup (n.1901-392_1901-370dup) c.5927-392_5927-370dup (n.5927-392_5927-370dup) c.1679-392_1679-370dup (n.1679-392_1679-370dup) c.4907-392_4907-370dup (n.4907-392_4907-370dup) n.6083-392_6083-370dup | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699132_99699155dup | CA1117103483 | VPS13B | c.6122-393_6122-370dup (n.6122-393_6122-370dup) n.6192-393_6192-370dup c.*1804-393_*1804-370dup (n.*1804-393_*1804-370dup) c.6047-393_6047-370dup (n.6047-393_6047-370dup) c.6119-393_6119-370dup (n.6119-393_6119-370dup) c.6044-393_6044-370dup (n.6044-393_6044-370dup) c.5744-393_5744-370dup (n.5744-393_5744-370dup) c.3008-393_3008-370dup (n.3008-393_3008-370dup) c.1901-393_1901-370dup (n.1901-393_1901-370dup) c.5927-393_5927-370dup (n.5927-393_5927-370dup) c.1679-393_1679-370dup (n.1679-393_1679-370dup) c.4907-393_4907-370dup (n.4907-393_4907-370dup) n.6083-393_6083-370dup | gnomAD v3 gnomAD v4 |
8 | g.99699155del | CA583878321 | VPS13B | c.6122-370del (n.6122-370del) n.6192-370del c.*1804-370del (n.*1804-370del) c.6047-370del (n.6047-370del) c.6119-370del (n.6119-370del) c.6044-370del (n.6044-370del) c.5744-370del (n.5744-370del) c.3008-370del (n.3008-370del) c.1901-370del (n.1901-370del) c.5927-370del (n.5927-370del) c.1679-370del (n.1679-370del) c.4907-370del (n.4907-370del) n.6083-370del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699154_99699155del | CA857579719 | VPS13B | c.6122-371_6122-370del (n.6122-371_6122-370del) n.6192-371_6192-370del c.*1804-371_*1804-370del (n.*1804-371_*1804-370del) c.6047-371_6047-370del (n.6047-371_6047-370del) c.6119-371_6119-370del (n.6119-371_6119-370del) c.6044-371_6044-370del (n.6044-371_6044-370del) c.5744-371_5744-370del (n.5744-371_5744-370del) c.3008-371_3008-370del (n.3008-371_3008-370del) c.1901-371_1901-370del (n.1901-371_1901-370del) c.5927-371_5927-370del (n.5927-371_5927-370del) c.1679-371_1679-370del (n.1679-371_1679-370del) c.4907-371_4907-370del (n.4907-371_4907-370del) n.6083-371_6083-370del | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699153_99699155del | CA857579717 | VPS13B | c.6122-372_6122-370del (n.6122-372_6122-370del) n.6192-372_6192-370del c.*1804-372_*1804-370del (n.*1804-372_*1804-370del) c.6047-372_6047-370del (n.6047-372_6047-370del) c.6119-372_6119-370del (n.6119-372_6119-370del) c.6044-372_6044-370del (n.6044-372_6044-370del) c.5744-372_5744-370del (n.5744-372_5744-370del) c.3008-372_3008-370del (n.3008-372_3008-370del) c.1901-372_1901-370del (n.1901-372_1901-370del) c.5927-372_5927-370del (n.5927-372_5927-370del) c.1679-372_1679-370del (n.1679-372_1679-370del) c.4907-372_4907-370del (n.4907-372_4907-370del) n.6083-372_6083-370del | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699152_99699155del | CA857579676 | VPS13B | c.6122-373_6122-370del (n.6122-373_6122-370del) n.6192-373_6192-370del c.*1804-373_*1804-370del (n.*1804-373_*1804-370del) c.6047-373_6047-370del (n.6047-373_6047-370del) c.6119-373_6119-370del (n.6119-373_6119-370del) c.6044-373_6044-370del (n.6044-373_6044-370del) c.5744-373_5744-370del (n.5744-373_5744-370del) c.3008-373_3008-370del (n.3008-373_3008-370del) c.1901-373_1901-370del (n.1901-373_1901-370del) c.5927-373_5927-370del (n.5927-373_5927-370del) c.1679-373_1679-370del (n.1679-373_1679-370del) c.4907-373_4907-370del (n.4907-373_4907-370del) n.6083-373_6083-370del | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699151_99699155del | CA583878322 | VPS13B | c.6122-374_6122-370del (n.6122-374_6122-370del) n.6192-374_6192-370del c.*1804-374_*1804-370del (n.*1804-374_*1804-370del) c.6047-374_6047-370del (n.6047-374_6047-370del) c.6119-374_6119-370del (n.6119-374_6119-370del) c.6044-374_6044-370del (n.6044-374_6044-370del) c.5744-374_5744-370del (n.5744-374_5744-370del) c.3008-374_3008-370del (n.3008-374_3008-370del) c.1901-374_1901-370del (n.1901-374_1901-370del) c.5927-374_5927-370del (n.5927-374_5927-370del) c.1679-374_1679-370del (n.1679-374_1679-370del) c.4907-374_4907-370del (n.4907-374_4907-370del) n.6083-374_6083-370del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699150_99699155del | CA583878324 | VPS13B | c.6122-375_6122-370del (n.6122-375_6122-370del) n.6192-375_6192-370del c.*1804-375_*1804-370del (n.*1804-375_*1804-370del) c.6047-375_6047-370del (n.6047-375_6047-370del) c.6119-375_6119-370del (n.6119-375_6119-370del) c.6044-375_6044-370del (n.6044-375_6044-370del) c.5744-375_5744-370del (n.5744-375_5744-370del) c.3008-375_3008-370del (n.3008-375_3008-370del) c.1901-375_1901-370del (n.1901-375_1901-370del) c.5927-375_5927-370del (n.5927-375_5927-370del) c.1679-375_1679-370del (n.1679-375_1679-370del) c.4907-375_4907-370del (n.4907-375_4907-370del) n.6083-375_6083-370del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699149_99699155del | CA857579707 | VPS13B | c.6122-376_6122-370del (n.6122-376_6122-370del) n.6192-376_6192-370del c.*1804-376_*1804-370del (n.*1804-376_*1804-370del) c.6047-376_6047-370del (n.6047-376_6047-370del) c.6119-376_6119-370del (n.6119-376_6119-370del) c.6044-376_6044-370del (n.6044-376_6044-370del) c.5744-376_5744-370del (n.5744-376_5744-370del) c.3008-376_3008-370del (n.3008-376_3008-370del) c.1901-376_1901-370del (n.1901-376_1901-370del) c.5927-376_5927-370del (n.5927-376_5927-370del) c.1679-376_1679-370del (n.1679-376_1679-370del) c.4907-376_4907-370del (n.4907-376_4907-370del) n.6083-376_6083-370del | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699148_99699155del | CA857579702 | VPS13B | c.6122-377_6122-370del (n.6122-377_6122-370del) n.6192-377_6192-370del c.*1804-377_*1804-370del (n.*1804-377_*1804-370del) c.6047-377_6047-370del (n.6047-377_6047-370del) c.6119-377_6119-370del (n.6119-377_6119-370del) c.6044-377_6044-370del (n.6044-377_6044-370del) c.5744-377_5744-370del (n.5744-377_5744-370del) c.3008-377_3008-370del (n.3008-377_3008-370del) c.1901-377_1901-370del (n.1901-377_1901-370del) c.5927-377_5927-370del (n.5927-377_5927-370del) c.1679-377_1679-370del (n.1679-377_1679-370del) c.4907-377_4907-370del (n.4907-377_4907-370del) n.6083-377_6083-370del | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699147_99699155del | CA1117103441 | VPS13B | c.6122-378_6122-370del (n.6122-378_6122-370del) n.6192-378_6192-370del c.*1804-378_*1804-370del (n.*1804-378_*1804-370del) c.6047-378_6047-370del (n.6047-378_6047-370del) c.6119-378_6119-370del (n.6119-378_6119-370del) c.6044-378_6044-370del (n.6044-378_6044-370del) c.5744-378_5744-370del (n.5744-378_5744-370del) c.3008-378_3008-370del (n.3008-378_3008-370del) c.1901-378_1901-370del (n.1901-378_1901-370del) c.5927-378_5927-370del (n.5927-378_5927-370del) c.1679-378_1679-370del (n.1679-378_1679-370del) c.4907-378_4907-370del (n.4907-378_4907-370del) n.6083-378_6083-370del | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699146_99699155del | CA857579700 | VPS13B | c.6122-379_6122-370del (n.6122-379_6122-370del) n.6192-379_6192-370del c.*1804-379_*1804-370del (n.*1804-379_*1804-370del) c.6047-379_6047-370del (n.6047-379_6047-370del) c.6119-379_6119-370del (n.6119-379_6119-370del) c.6044-379_6044-370del (n.6044-379_6044-370del) c.5744-379_5744-370del (n.5744-379_5744-370del) c.3008-379_3008-370del (n.3008-379_3008-370del) c.1901-379_1901-370del (n.1901-379_1901-370del) c.5927-379_5927-370del (n.5927-379_5927-370del) c.1679-379_1679-370del (n.1679-379_1679-370del) c.4907-379_4907-370del (n.4907-379_4907-370del) n.6083-379_6083-370del | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699145_99699155del | CA857579695 | VPS13B | c.6122-380_6122-370del (n.6122-380_6122-370del) n.6192-380_6192-370del c.*1804-380_*1804-370del (n.*1804-380_*1804-370del) c.6047-380_6047-370del (n.6047-380_6047-370del) c.6119-380_6119-370del (n.6119-380_6119-370del) c.6044-380_6044-370del (n.6044-380_6044-370del) c.5744-380_5744-370del (n.5744-380_5744-370del) c.3008-380_3008-370del (n.3008-380_3008-370del) c.1901-380_1901-370del (n.1901-380_1901-370del) c.5927-380_5927-370del (n.5927-380_5927-370del) c.1679-380_1679-370del (n.1679-380_1679-370del) c.4907-380_4907-370del (n.4907-380_4907-370del) n.6083-380_6083-370del | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699144_99699155del | CA857579690 | VPS13B | c.6122-381_6122-370del (n.6122-381_6122-370del) n.6192-381_6192-370del c.*1804-381_*1804-370del (n.*1804-381_*1804-370del) c.6047-381_6047-370del (n.6047-381_6047-370del) c.6119-381_6119-370del (n.6119-381_6119-370del) c.6044-381_6044-370del (n.6044-381_6044-370del) c.5744-381_5744-370del (n.5744-381_5744-370del) c.3008-381_3008-370del (n.3008-381_3008-370del) c.1901-381_1901-370del (n.1901-381_1901-370del) c.5927-381_5927-370del (n.5927-381_5927-370del) c.1679-381_1679-370del (n.1679-381_1679-370del) c.4907-381_4907-370del (n.4907-381_4907-370del) n.6083-381_6083-370del | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699143_99699155del | CA1805814189 | VPS13B | c.6122-382_6122-370del (n.6122-382_6122-370del) n.6192-382_6192-370del c.*1804-382_*1804-370del (n.*1804-382_*1804-370del) c.6047-382_6047-370del (n.6047-382_6047-370del) c.6119-382_6119-370del (n.6119-382_6119-370del) c.6044-382_6044-370del (n.6044-382_6044-370del) c.5744-382_5744-370del (n.5744-382_5744-370del) c.3008-382_3008-370del (n.3008-382_3008-370del) c.1901-382_1901-370del (n.1901-382_1901-370del) c.5927-382_5927-370del (n.5927-382_5927-370del) c.1679-382_1679-370del (n.1679-382_1679-370del) c.4907-382_4907-370del (n.4907-382_4907-370del) n.6083-382_6083-370del | dbSNP |
8 | g.99699142_99699155del | CA2501927531 | VPS13B | c.6122-383_6122-370del (n.6122-383_6122-370del) n.6192-383_6192-370del c.*1804-383_*1804-370del (n.*1804-383_*1804-370del) c.6047-383_6047-370del (n.6047-383_6047-370del) c.6119-383_6119-370del (n.6119-383_6119-370del) c.6044-383_6044-370del (n.6044-383_6044-370del) c.5744-383_5744-370del (n.5744-383_5744-370del) c.3008-383_3008-370del (n.3008-383_3008-370del) c.1901-383_1901-370del (n.1901-383_1901-370del) c.5927-383_5927-370del (n.5927-383_5927-370del) c.1679-383_1679-370del (n.1679-383_1679-370del) c.4907-383_4907-370del (n.4907-383_4907-370del) n.6083-383_6083-370del | |
8 | g.99699141_99699155del | CA183025188 | VPS13B | c.6122-384_6122-370del (n.6122-384_6122-370del) n.6192-384_6192-370del c.*1804-384_*1804-370del (n.*1804-384_*1804-370del) c.6047-384_6047-370del (n.6047-384_6047-370del) c.6119-384_6119-370del (n.6119-384_6119-370del) c.6044-384_6044-370del (n.6044-384_6044-370del) c.5744-384_5744-370del (n.5744-384_5744-370del) c.3008-384_3008-370del (n.3008-384_3008-370del) c.1901-384_1901-370del (n.1901-384_1901-370del) c.5927-384_5927-370del (n.5927-384_5927-370del) c.1679-384_1679-370del (n.1679-384_1679-370del) c.4907-384_4907-370del (n.4907-384_4907-370del) n.6083-384_6083-370del | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699140_99699155del | CA1805814185 | VPS13B | c.6122-385_6122-370del (n.6122-385_6122-370del) n.6192-385_6192-370del c.*1804-385_*1804-370del (n.*1804-385_*1804-370del) c.6047-385_6047-370del (n.6047-385_6047-370del) c.6119-385_6119-370del (n.6119-385_6119-370del) c.6044-385_6044-370del (n.6044-385_6044-370del) c.5744-385_5744-370del (n.5744-385_5744-370del) c.3008-385_3008-370del (n.3008-385_3008-370del) c.1901-385_1901-370del (n.1901-385_1901-370del) c.5927-385_5927-370del (n.5927-385_5927-370del) c.1679-385_1679-370del (n.1679-385_1679-370del) c.4907-385_4907-370del (n.4907-385_4907-370del) n.6083-385_6083-370del | dbSNP |
8 | g.99699139_99699155del | CA857579677 | VPS13B | c.6122-386_6122-370del (n.6122-386_6122-370del) n.6192-386_6192-370del c.*1804-386_*1804-370del (n.*1804-386_*1804-370del) c.6047-386_6047-370del (n.6047-386_6047-370del) c.6119-386_6119-370del (n.6119-386_6119-370del) c.6044-386_6044-370del (n.6044-386_6044-370del) c.5744-386_5744-370del (n.5744-386_5744-370del) c.3008-386_3008-370del (n.3008-386_3008-370del) c.1901-386_1901-370del (n.1901-386_1901-370del) c.5927-386_5927-370del (n.5927-386_5927-370del) c.1679-386_1679-370del (n.1679-386_1679-370del) c.4907-386_4907-370del (n.4907-386_4907-370del) n.6083-386_6083-370del | dbSNP |
8 | g.99699155_99699156insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTTTTTTTTTTTTTTTT | CA583878330 | VPS13B | c.6122-370_6122-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTTTTTTTTTTTTTTTT (n.6122-370_6122-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTTTTTTTTTTTTTTTT) n.6192-370_6192-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTTTTTTTTTTTTTTTT c.*1804-370_*1804-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTTTTTTTTTTTTTTTT (n.*1804-370_*1804-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTTTTTTTTTTTTTTTT) c.6047-370_6047-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTTTTTTTTTTTTTTTT (n.6047-370_6047-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTTTTTTTTTTTTTTTT) c.6119-370_6119-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTTTTTTTTTTTTTTTT (n.6119-370_6119-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTTTTTTTTTTTTTTTT) c.6044-370_6044-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTTTTTTTTTTTTTTTT (n.6044-370_6044-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTTTTTTTTTTTTTTTT) c.5744-370_5744-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTTTTTTTTTTTTTTTT (n.5744-370_5744-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTTTTTTTTTTTTTTTT) c.3008-370_3008-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTTTTTTTTTTTTTTTT (n.3008-370_3008-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTTTTTTTTTTTTTTTT) c.1901-370_1901-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTTTTTTTTTTTTTTTT (n.1901-370_1901-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTTTTTTTTTTTTTTTT) c.5927-370_5927-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTTTTTTTTTTTTTTTT (n.5927-370_5927-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTTTTTTTTTTTTTTTT) c.1679-370_1679-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTTTTTTTTTTTTTTTT (n.1679-370_1679-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTTTTTTTTTTTTTTTT) c.4907-370_4907-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTTTTTTTTTTTTTTTT (n.4907-370_4907-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTTTTTTTTTTTTTTTT) n.6083-370_6083-369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTTTTTTTTTTTTTTTT | gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699147T>G | CA2499919802 | VPS13B | c.6122-378T>G (n.6122-378T>G) n.6192-378T>G c.*1804-378T>G (n.*1804-378T>G) c.6047-378T>G (n.6047-378T>G) c.6119-378T>G (n.6119-378T>G) c.6044-378T>G (n.6044-378T>G) c.5744-378T>G (n.5744-378T>G) c.3008-378T>G (n.3008-378T>G) c.1901-378T>G (n.1901-378T>G) c.5927-378T>G (n.5927-378T>G) c.1679-378T>G (n.1679-378T>G) c.4907-378T>G (n.4907-378T>G) n.6083-378T>G | |
8 | g.99699148T= | CA1805814231 | VPS13B | c.6122-377T= (n.6122-377T=) n.6192-377T= c.*1804-377T= (n.*1804-377T=) c.6047-377T= (n.6047-377T=) c.6119-377T= (n.6119-377T=) c.6044-377T= (n.6044-377T=) c.5744-377T= (n.5744-377T=) c.3008-377T= (n.3008-377T=) c.1901-377T= (n.1901-377T=) c.5927-377T= (n.5927-377T=) c.1679-377T= (n.1679-377T=) c.4907-377T= (n.4907-377T=) n.6083-377T= | |
8 | g.99699148_99699149insC | CA1117103520 | VPS13B | c.6122-377_6122-376insC (n.6122-377_6122-376insC) n.6192-377_6192-376insC c.*1804-377_*1804-376insC (n.*1804-377_*1804-376insC) c.6047-377_6047-376insC (n.6047-377_6047-376insC) c.6119-377_6119-376insC (n.6119-377_6119-376insC) c.6044-377_6044-376insC (n.6044-377_6044-376insC) c.5744-377_5744-376insC (n.5744-377_5744-376insC) c.3008-377_3008-376insC (n.3008-377_3008-376insC) c.1901-377_1901-376insC (n.1901-377_1901-376insC) c.5927-377_5927-376insC (n.5927-377_5927-376insC) c.1679-377_1679-376insC (n.1679-377_1679-376insC) c.4907-377_4907-376insC (n.4907-377_4907-376insC) n.6083-377_6083-376insC | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699149_99699156delinsTTTTTTTG | CA1805814239 | VPS13B | c.6122-376_6122-369delinsTTTTTTTG (n.6122-376_6122-369delinsTTTTTTTG) n.6192-376_6192-369delinsTTTTTTTG c.*1804-376_*1804-369delinsTTTTTTTG (n.*1804-376_*1804-369delinsTTTTTTTG) c.6047-376_6047-369delinsTTTTTTTG (n.6047-376_6047-369delinsTTTTTTTG) c.6119-376_6119-369delinsTTTTTTTG (n.6119-376_6119-369delinsTTTTTTTG) c.6044-376_6044-369delinsTTTTTTTG (n.6044-376_6044-369delinsTTTTTTTG) c.5744-376_5744-369delinsTTTTTTTG (n.5744-376_5744-369delinsTTTTTTTG) c.3008-376_3008-369delinsTTTTTTTG (n.3008-376_3008-369delinsTTTTTTTG) c.1901-376_1901-369delinsTTTTTTTG (n.1901-376_1901-369delinsTTTTTTTG) c.5927-376_5927-369delinsTTTTTTTG (n.5927-376_5927-369delinsTTTTTTTG) c.1679-376_1679-369delinsTTTTTTTG (n.1679-376_1679-369delinsTTTTTTTG) c.4907-376_4907-369delinsTTTTTTTG (n.4907-376_4907-369delinsTTTTTTTG) n.6083-376_6083-369delinsTTTTTTTG | |
8 | g.99699150_99699156del | CA1805814242 | VPS13B | c.6122-375_6122-369del (n.6122-375_6122-369del) n.6192-375_6192-369del c.*1804-375_*1804-369del (n.*1804-375_*1804-369del) c.6047-375_6047-369del (n.6047-375_6047-369del) c.6119-375_6119-369del (n.6119-375_6119-369del) c.6044-375_6044-369del (n.6044-375_6044-369del) c.5744-375_5744-369del (n.5744-375_5744-369del) c.3008-375_3008-369del (n.3008-375_3008-369del) c.1901-375_1901-369del (n.1901-375_1901-369del) c.5927-375_5927-369del (n.5927-375_5927-369del) c.1679-375_1679-369del (n.1679-375_1679-369del) c.4907-375_4907-369del (n.4907-375_4907-369del) n.6083-375_6083-369del | dbSNP |
8 | g.99699150_99699156delinsTTTTTTG | CA1805814243 | VPS13B | c.6122-375_6122-369delinsTTTTTTG (n.6122-375_6122-369delinsTTTTTTG) n.6192-375_6192-369delinsTTTTTTG c.*1804-375_*1804-369delinsTTTTTTG (n.*1804-375_*1804-369delinsTTTTTTG) c.6047-375_6047-369delinsTTTTTTG (n.6047-375_6047-369delinsTTTTTTG) c.6119-375_6119-369delinsTTTTTTG (n.6119-375_6119-369delinsTTTTTTG) c.6044-375_6044-369delinsTTTTTTG (n.6044-375_6044-369delinsTTTTTTG) c.5744-375_5744-369delinsTTTTTTG (n.5744-375_5744-369delinsTTTTTTG) c.3008-375_3008-369delinsTTTTTTG (n.3008-375_3008-369delinsTTTTTTG) c.1901-375_1901-369delinsTTTTTTG (n.1901-375_1901-369delinsTTTTTTG) c.5927-375_5927-369delinsTTTTTTG (n.5927-375_5927-369delinsTTTTTTG) c.1679-375_1679-369delinsTTTTTTG (n.1679-375_1679-369delinsTTTTTTG) c.4907-375_4907-369delinsTTTTTTG (n.4907-375_4907-369delinsTTTTTTG) n.6083-375_6083-369delinsTTTTTTG | |
8 | g.99699151_99699156del | CA857579738 | VPS13B | c.6122-374_6122-369del (n.6122-374_6122-369del) n.6192-374_6192-369del c.*1804-374_*1804-369del (n.*1804-374_*1804-369del) c.6047-374_6047-369del (n.6047-374_6047-369del) c.6119-374_6119-369del (n.6119-374_6119-369del) c.6044-374_6044-369del (n.6044-374_6044-369del) c.5744-374_5744-369del (n.5744-374_5744-369del) c.3008-374_3008-369del (n.3008-374_3008-369del) c.1901-374_1901-369del (n.1901-374_1901-369del) c.5927-374_5927-369del (n.5927-374_5927-369del) c.1679-374_1679-369del (n.1679-374_1679-369del) c.4907-374_4907-369del (n.4907-374_4907-369del) n.6083-374_6083-369del | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699151_99699156delinsTTTTTG | CA1805814246 | VPS13B | c.6122-374_6122-369delinsTTTTTG (n.6122-374_6122-369delinsTTTTTG) n.6192-374_6192-369delinsTTTTTG c.*1804-374_*1804-369delinsTTTTTG (n.*1804-374_*1804-369delinsTTTTTG) c.6047-374_6047-369delinsTTTTTG (n.6047-374_6047-369delinsTTTTTG) c.6119-374_6119-369delinsTTTTTG (n.6119-374_6119-369delinsTTTTTG) c.6044-374_6044-369delinsTTTTTG (n.6044-374_6044-369delinsTTTTTG) c.5744-374_5744-369delinsTTTTTG (n.5744-374_5744-369delinsTTTTTG) c.3008-374_3008-369delinsTTTTTG (n.3008-374_3008-369delinsTTTTTG) c.1901-374_1901-369delinsTTTTTG (n.1901-374_1901-369delinsTTTTTG) c.5927-374_5927-369delinsTTTTTG (n.5927-374_5927-369delinsTTTTTG) c.1679-374_1679-369delinsTTTTTG (n.1679-374_1679-369delinsTTTTTG) c.4907-374_4907-369delinsTTTTTG (n.4907-374_4907-369delinsTTTTTG) n.6083-374_6083-369delinsTTTTTG | |
8 | g.99699152T= | CA1805814251 | VPS13B | c.6122-373T= (n.6122-373T=) n.6192-373T= c.*1804-373T= (n.*1804-373T=) c.6047-373T= (n.6047-373T=) c.6119-373T= (n.6119-373T=) c.6044-373T= (n.6044-373T=) c.5744-373T= (n.5744-373T=) c.3008-373T= (n.3008-373T=) c.1901-373T= (n.1901-373T=) c.5927-373T= (n.5927-373T=) c.1679-373T= (n.1679-373T=) c.4907-373T= (n.4907-373T=) n.6083-373T= | |
8 | g.99699152_99699156del | CA857579739 | VPS13B | c.6122-373_6122-369del (n.6122-373_6122-369del) n.6192-373_6192-369del c.*1804-373_*1804-369del (n.*1804-373_*1804-369del) c.6047-373_6047-369del (n.6047-373_6047-369del) c.6119-373_6119-369del (n.6119-373_6119-369del) c.6044-373_6044-369del (n.6044-373_6044-369del) c.5744-373_5744-369del (n.5744-373_5744-369del) c.3008-373_3008-369del (n.3008-373_3008-369del) c.1901-373_1901-369del (n.1901-373_1901-369del) c.5927-373_5927-369del (n.5927-373_5927-369del) c.1679-373_1679-369del (n.1679-373_1679-369del) c.4907-373_4907-369del (n.4907-373_4907-369del) n.6083-373_6083-369del | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699152_99699153insG | CA857579745 | VPS13B | c.6122-373_6122-372insG (n.6122-373_6122-372insG) n.6192-373_6192-372insG c.*1804-373_*1804-372insG (n.*1804-373_*1804-372insG) c.6047-373_6047-372insG (n.6047-373_6047-372insG) c.6119-373_6119-372insG (n.6119-373_6119-372insG) c.6044-373_6044-372insG (n.6044-373_6044-372insG) c.5744-373_5744-372insG (n.5744-373_5744-372insG) c.3008-373_3008-372insG (n.3008-373_3008-372insG) c.1901-373_1901-372insG (n.1901-373_1901-372insG) c.5927-373_5927-372insG (n.5927-373_5927-372insG) c.1679-373_1679-372insG (n.1679-373_1679-372insG) c.4907-373_4907-372insG (n.4907-373_4907-372insG) n.6083-373_6083-372insG | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699153_99699156delinsTTTG | CA1805814256 | VPS13B | c.6122-372_6122-369delinsTTTG (n.6122-372_6122-369delinsTTTG) n.6192-372_6192-369delinsTTTG c.*1804-372_*1804-369delinsTTTG (n.*1804-372_*1804-369delinsTTTG) c.6047-372_6047-369delinsTTTG (n.6047-372_6047-369delinsTTTG) c.6119-372_6119-369delinsTTTG (n.6119-372_6119-369delinsTTTG) c.6044-372_6044-369delinsTTTG (n.6044-372_6044-369delinsTTTG) c.5744-372_5744-369delinsTTTG (n.5744-372_5744-369delinsTTTG) c.3008-372_3008-369delinsTTTG (n.3008-372_3008-369delinsTTTG) c.1901-372_1901-369delinsTTTG (n.1901-372_1901-369delinsTTTG) c.5927-372_5927-369delinsTTTG (n.5927-372_5927-369delinsTTTG) c.1679-372_1679-369delinsTTTG (n.1679-372_1679-369delinsTTTG) c.4907-372_4907-369delinsTTTG (n.4907-372_4907-369delinsTTTG) n.6083-372_6083-369delinsTTTG | |
8 | g.99699153_99699157del | CA1117103529 | VPS13B | c.6122-372_6122-368del (n.6122-372_6122-368del) n.6192-372_6192-368del c.*1804-372_*1804-368del (n.*1804-372_*1804-368del) c.6047-372_6047-368del (n.6047-372_6047-368del) c.6119-372_6119-368del (n.6119-372_6119-368del) c.6044-372_6044-368del (n.6044-372_6044-368del) c.5744-372_5744-368del (n.5744-372_5744-368del) c.3008-372_3008-368del (n.3008-372_3008-368del) c.1901-372_1901-368del (n.1901-372_1901-368del) c.5927-372_5927-368del (n.5927-372_5927-368del) c.1679-372_1679-368del (n.1679-372_1679-368del) c.4907-372_4907-368del (n.4907-372_4907-368del) n.6083-372_6083-368del | gnomAD v3 gnomAD v4 |
8 | g.99699154_99699156del | CA183025192 | VPS13B | c.6122-371_6122-369del (n.6122-371_6122-369del) n.6192-371_6192-369del c.*1804-371_*1804-369del (n.*1804-371_*1804-369del) c.6047-371_6047-369del (n.6047-371_6047-369del) c.6119-371_6119-369del (n.6119-371_6119-369del) c.6044-371_6044-369del (n.6044-371_6044-369del) c.5744-371_5744-369del (n.5744-371_5744-369del) c.3008-371_3008-369del (n.3008-371_3008-369del) c.1901-371_1901-369del (n.1901-371_1901-369del) c.5927-371_5927-369del (n.5927-371_5927-369del) c.1679-371_1679-369del (n.1679-371_1679-369del) c.4907-371_4907-369del (n.4907-371_4907-369del) n.6083-371_6083-369del | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699154_99699156delinsTTG | CA1805814260 | VPS13B | c.6122-371_6122-369delinsTTG (n.6122-371_6122-369delinsTTG) n.6192-371_6192-369delinsTTG c.*1804-371_*1804-369delinsTTG (n.*1804-371_*1804-369delinsTTG) c.6047-371_6047-369delinsTTG (n.6047-371_6047-369delinsTTG) c.6119-371_6119-369delinsTTG (n.6119-371_6119-369delinsTTG) c.6044-371_6044-369delinsTTG (n.6044-371_6044-369delinsTTG) c.5744-371_5744-369delinsTTG (n.5744-371_5744-369delinsTTG) c.3008-371_3008-369delinsTTG (n.3008-371_3008-369delinsTTG) c.1901-371_1901-369delinsTTG (n.1901-371_1901-369delinsTTG) c.5927-371_5927-369delinsTTG (n.5927-371_5927-369delinsTTG) c.1679-371_1679-369delinsTTG (n.1679-371_1679-369delinsTTG) c.4907-371_4907-369delinsTTG (n.4907-371_4907-369delinsTTG) n.6083-371_6083-369delinsTTG | |
8 | g.99699155T>G | CA857579752 | VPS13B | c.6122-370T>G (n.6122-370T>G) n.6192-370T>G c.*1804-370T>G (n.*1804-370T>G) c.6047-370T>G (n.6047-370T>G) c.6119-370T>G (n.6119-370T>G) c.6044-370T>G (n.6044-370T>G) c.5744-370T>G (n.5744-370T>G) c.3008-370T>G (n.3008-370T>G) c.1901-370T>G (n.1901-370T>G) c.5927-370T>G (n.5927-370T>G) c.1679-370T>G (n.1679-370T>G) c.4907-370T>G (n.4907-370T>G) n.6083-370T>G | dbSNP |
8 | g.99699155T= | CA1805814267 | VPS13B | c.6122-370T= (n.6122-370T=) n.6192-370T= c.*1804-370T= (n.*1804-370T=) c.6047-370T= (n.6047-370T=) c.6119-370T= (n.6119-370T=) c.6044-370T= (n.6044-370T=) c.5744-370T= (n.5744-370T=) c.3008-370T= (n.3008-370T=) c.1901-370T= (n.1901-370T=) c.5927-370T= (n.5927-370T=) c.1679-370T= (n.1679-370T=) c.4907-370T= (n.4907-370T=) n.6083-370T= | |
8 | g.99699155_99699156del | CA1117103533 | VPS13B | c.6122-370_6122-369del (n.6122-370_6122-369del) n.6192-370_6192-369del c.*1804-370_*1804-369del (n.*1804-370_*1804-369del) c.6047-370_6047-369del (n.6047-370_6047-369del) c.6119-370_6119-369del (n.6119-370_6119-369del) c.6044-370_6044-369del (n.6044-370_6044-369del) c.5744-370_5744-369del (n.5744-370_5744-369del) c.3008-370_3008-369del (n.3008-370_3008-369del) c.1901-370_1901-369del (n.1901-370_1901-369del) c.5927-370_5927-369del (n.5927-370_5927-369del) c.1679-370_1679-369del (n.1679-370_1679-369del) c.4907-370_4907-369del (n.4907-370_4907-369del) n.6083-370_6083-369del | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699155_99699156delinsTG | CA1805814265 | VPS13B | c.6122-370_6122-369delinsTG (n.6122-370_6122-369delinsTG) n.6192-370_6192-369delinsTG c.*1804-370_*1804-369delinsTG (n.*1804-370_*1804-369delinsTG) c.6047-370_6047-369delinsTG (n.6047-370_6047-369delinsTG) c.6119-370_6119-369delinsTG (n.6119-370_6119-369delinsTG) c.6044-370_6044-369delinsTG (n.6044-370_6044-369delinsTG) c.5744-370_5744-369delinsTG (n.5744-370_5744-369delinsTG) c.3008-370_3008-369delinsTG (n.3008-370_3008-369delinsTG) c.1901-370_1901-369delinsTG (n.1901-370_1901-369delinsTG) c.5927-370_5927-369delinsTG (n.5927-370_5927-369delinsTG) c.1679-370_1679-369delinsTG (n.1679-370_1679-369delinsTG) c.4907-370_4907-369delinsTG (n.4907-370_4907-369delinsTG) n.6083-370_6083-369delinsTG | |
8 | g.99699155_99699160delinsTGAAGA | CA1805814264 | VPS13B | c.6122-370_6122-365delinsTGAAGA (n.6122-370_6122-365delinsTGAAGA) n.6192-370_6192-365delinsTGAAGA c.*1804-370_*1804-365delinsTGAAGA (n.*1804-370_*1804-365delinsTGAAGA) c.6047-370_6047-365delinsTGAAGA (n.6047-370_6047-365delinsTGAAGA) c.6119-370_6119-365delinsTGAAGA (n.6119-370_6119-365delinsTGAAGA) c.6044-370_6044-365delinsTGAAGA (n.6044-370_6044-365delinsTGAAGA) c.5744-370_5744-365delinsTGAAGA (n.5744-370_5744-365delinsTGAAGA) c.3008-370_3008-365delinsTGAAGA (n.3008-370_3008-365delinsTGAAGA) c.1901-370_1901-365delinsTGAAGA (n.1901-370_1901-365delinsTGAAGA) c.5927-370_5927-365delinsTGAAGA (n.5927-370_5927-365delinsTGAAGA) c.1679-370_1679-365delinsTGAAGA (n.1679-370_1679-365delinsTGAAGA) c.4907-370_4907-365delinsTGAAGA (n.4907-370_4907-365delinsTGAAGA) n.6083-370_6083-365delinsTGAAGA | |
8 | g.99699155_99699168delinsTGAAGAAAGGCCAG | CA1805814262 | VPS13B | c.6122-370_6122-357delinsTGAAGAAAGGCCAG (n.6122-370_6122-357delinsTGAAGAAAGGCCAG) n.6192-370_6192-357delinsTGAAGAAAGGCCAG c.*1804-370_*1804-357delinsTGAAGAAAGGCCAG (n.*1804-370_*1804-357delinsTGAAGAAAGGCCAG) c.6047-370_6047-357delinsTGAAGAAAGGCCAG (n.6047-370_6047-357delinsTGAAGAAAGGCCAG) c.6119-370_6119-357delinsTGAAGAAAGGCCAG (n.6119-370_6119-357delinsTGAAGAAAGGCCAG) c.6044-370_6044-357delinsTGAAGAAAGGCCAG (n.6044-370_6044-357delinsTGAAGAAAGGCCAG) c.5744-370_5744-357delinsTGAAGAAAGGCCAG (n.5744-370_5744-357delinsTGAAGAAAGGCCAG) c.3008-370_3008-357delinsTGAAGAAAGGCCAG (n.3008-370_3008-357delinsTGAAGAAAGGCCAG) c.1901-370_1901-357delinsTGAAGAAAGGCCAG (n.1901-370_1901-357delinsTGAAGAAAGGCCAG) c.5927-370_5927-357delinsTGAAGAAAGGCCAG (n.5927-370_5927-357delinsTGAAGAAAGGCCAG) c.1679-370_1679-357delinsTGAAGAAAGGCCAG (n.1679-370_1679-357delinsTGAAGAAAGGCCAG) c.4907-370_4907-357delinsTGAAGAAAGGCCAG (n.4907-370_4907-357delinsTGAAGAAAGGCCAG) n.6083-370_6083-357delinsTGAAGAAAGGCCAG | |
8 | g.99699155_99699156insTTA | CA1117103552 | VPS13B | c.6122-370_6122-369insTTA (n.6122-370_6122-369insTTA) n.6192-370_6192-369insTTA c.*1804-370_*1804-369insTTA (n.*1804-370_*1804-369insTTA) c.6047-370_6047-369insTTA (n.6047-370_6047-369insTTA) c.6119-370_6119-369insTTA (n.6119-370_6119-369insTTA) c.6044-370_6044-369insTTA (n.6044-370_6044-369insTTA) c.5744-370_5744-369insTTA (n.5744-370_5744-369insTTA) c.3008-370_3008-369insTTA (n.3008-370_3008-369insTTA) c.1901-370_1901-369insTTA (n.1901-370_1901-369insTTA) c.5927-370_5927-369insTTA (n.5927-370_5927-369insTTA) c.1679-370_1679-369insTTA (n.1679-370_1679-369insTTA) c.4907-370_4907-369insTTA (n.4907-370_4907-369insTTA) n.6083-370_6083-369insTTA | gnomAD v3 gnomAD v4 |
8 | g.99699156del | CA583878333 | VPS13B | c.6122-369del (n.6122-369del) n.6192-369del c.*1804-369del (n.*1804-369del) c.6047-369del (n.6047-369del) c.6119-369del (n.6119-369del) c.6044-369del (n.6044-369del) c.5744-369del (n.5744-369del) c.3008-369del (n.3008-369del) c.1901-369del (n.1901-369del) c.5927-369del (n.5927-369del) c.1679-369del (n.1679-369del) c.4907-369del (n.4907-369del) n.6083-369del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699156G>A | CA1117103545 | VPS13B | c.6122-369G>A (n.6122-369G>A) n.6192-369G>A c.*1804-369G>A (n.*1804-369G>A) c.6047-369G>A (n.6047-369G>A) c.6119-369G>A (n.6119-369G>A) c.6044-369G>A (n.6044-369G>A) c.5744-369G>A (n.5744-369G>A) c.3008-369G>A (n.3008-369G>A) c.1901-369G>A (n.1901-369G>A) c.5927-369G>A (n.5927-369G>A) c.1679-369G>A (n.1679-369G>A) c.4907-369G>A (n.4907-369G>A) n.6083-369G>A | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699156G= | CA1805814277 | VPS13B | c.6122-369G= (n.6122-369G=) n.6192-369G= c.*1804-369G= (n.*1804-369G=) c.6047-369G= (n.6047-369G=) c.6119-369G= (n.6119-369G=) c.6044-369G= (n.6044-369G=) c.5744-369G= (n.5744-369G=) c.3008-369G= (n.3008-369G=) c.1901-369G= (n.1901-369G=) c.5927-369G= (n.5927-369G=) c.1679-369G= (n.1679-369G=) c.4907-369G= (n.4907-369G=) n.6083-369G= | |
8 | g.99699156G>T | CA583878335 | VPS13B | c.6122-369G>T (n.6122-369G>T) n.6192-369G>T c.*1804-369G>T (n.*1804-369G>T) c.6047-369G>T (n.6047-369G>T) c.6119-369G>T (n.6119-369G>T) c.6044-369G>T (n.6044-369G>T) c.5744-369G>T (n.5744-369G>T) c.3008-369G>T (n.3008-369G>T) c.1901-369G>T (n.1901-369G>T) c.5927-369G>T (n.5927-369G>T) c.1679-369G>T (n.1679-369G>T) c.4907-369G>T (n.4907-369G>T) n.6083-369G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699156dup | CA1117103539 | VPS13B | c.6122-369dup (n.6122-369dup) n.6192-369dup c.*1804-369dup (n.*1804-369dup) c.6047-369dup (n.6047-369dup) c.6119-369dup (n.6119-369dup) c.6044-369dup (n.6044-369dup) c.5744-369dup (n.5744-369dup) c.3008-369dup (n.3008-369dup) c.1901-369dup (n.1901-369dup) c.5927-369dup (n.5927-369dup) c.1679-369dup (n.1679-369dup) c.4907-369dup (n.4907-369dup) n.6083-369dup | gnomAD v3 gnomAD v4 |
8 | g.99699156_99699157del | CA1117103550 | VPS13B | c.6122-369_6122-368del (n.6122-369_6122-368del) n.6192-369_6192-368del c.*1804-369_*1804-368del (n.*1804-369_*1804-368del) c.6047-369_6047-368del (n.6047-369_6047-368del) c.6119-369_6119-368del (n.6119-369_6119-368del) c.6044-369_6044-368del (n.6044-369_6044-368del) c.5744-369_5744-368del (n.5744-369_5744-368del) c.3008-369_3008-368del (n.3008-369_3008-368del) c.1901-369_1901-368del (n.1901-369_1901-368del) c.5927-369_5927-368del (n.5927-369_5927-368del) c.1679-369_1679-368del (n.1679-369_1679-368del) c.4907-369_4907-368del (n.4907-369_4907-368del) n.6083-369_6083-368del | gnomAD v3 gnomAD v4 |
8 | g.99699156_99699160del | CA1117103551 | VPS13B | c.6122-369_6122-365del (n.6122-369_6122-365del) n.6192-369_6192-365del c.*1804-369_*1804-365del (n.*1804-369_*1804-365del) c.6047-369_6047-365del (n.6047-369_6047-365del) c.6119-369_6119-365del (n.6119-369_6119-365del) c.6044-369_6044-365del (n.6044-369_6044-365del) c.5744-369_5744-365del (n.5744-369_5744-365del) c.3008-369_3008-365del (n.3008-369_3008-365del) c.1901-369_1901-365del (n.1901-369_1901-365del) c.5927-369_5927-365del (n.5927-369_5927-365del) c.1679-369_1679-365del (n.1679-369_1679-365del) c.4907-369_4907-365del (n.4907-369_4907-365del) n.6083-369_6083-365del | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699156_99699168del | CA583878332 | VPS13B | c.6122-369_6122-357del (n.6122-369_6122-357del) n.6192-369_6192-357del c.*1804-369_*1804-357del (n.*1804-369_*1804-357del) c.6047-369_6047-357del (n.6047-369_6047-357del) c.6119-369_6119-357del (n.6119-369_6119-357del) c.6044-369_6044-357del (n.6044-369_6044-357del) c.5744-369_5744-357del (n.5744-369_5744-357del) c.3008-369_3008-357del (n.3008-369_3008-357del) c.1901-369_1901-357del (n.1901-369_1901-357del) c.5927-369_5927-357del (n.5927-369_5927-357del) c.1679-369_1679-357del (n.1679-369_1679-357del) c.4907-369_4907-357del (n.4907-369_4907-357del) n.6083-369_6083-357del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699156_99699157insTTTTTTTTTTTTTTTTT | CA1117103556 | VPS13B | c.6122-369_6122-368insTTTTTTTTTTTTTTTTT (n.6122-369_6122-368insTTTTTTTTTTTTTTTTT) n.6192-369_6192-368insTTTTTTTTTTTTTTTTT c.*1804-369_*1804-368insTTTTTTTTTTTTTTTTT (n.*1804-369_*1804-368insTTTTTTTTTTTTTTTTT) c.6047-369_6047-368insTTTTTTTTTTTTTTTTT (n.6047-369_6047-368insTTTTTTTTTTTTTTTTT) c.6119-369_6119-368insTTTTTTTTTTTTTTTTT (n.6119-369_6119-368insTTTTTTTTTTTTTTTTT) c.6044-369_6044-368insTTTTTTTTTTTTTTTTT (n.6044-369_6044-368insTTTTTTTTTTTTTTTTT) c.5744-369_5744-368insTTTTTTTTTTTTTTTTT (n.5744-369_5744-368insTTTTTTTTTTTTTTTTT) c.3008-369_3008-368insTTTTTTTTTTTTTTTTT (n.3008-369_3008-368insTTTTTTTTTTTTTTTTT) c.1901-369_1901-368insTTTTTTTTTTTTTTTTT (n.1901-369_1901-368insTTTTTTTTTTTTTTTTT) c.5927-369_5927-368insTTTTTTTTTTTTTTTTT (n.5927-369_5927-368insTTTTTTTTTTTTTTTTT) c.1679-369_1679-368insTTTTTTTTTTTTTTTTT (n.1679-369_1679-368insTTTTTTTTTTTTTTTTT) c.4907-369_4907-368insTTTTTTTTTTTTTTTTT (n.4907-369_4907-368insTTTTTTTTTTTTTTTTT) n.6083-369_6083-368insTTTTTTTTTTTTTTTTT | |
8 | g.99699157A= | CA1805814279 | VPS13B | c.6122-368A= (n.6122-368A=) n.6192-368A= c.*1804-368A= (n.*1804-368A=) c.6047-368A= (n.6047-368A=) c.6119-368A= (n.6119-368A=) c.6044-368A= (n.6044-368A=) c.5744-368A= (n.5744-368A=) c.3008-368A= (n.3008-368A=) c.1901-368A= (n.1901-368A=) c.5927-368A= (n.5927-368A=) c.1679-368A= (n.1679-368A=) c.4907-368A= (n.4907-368A=) n.6083-368A= | |
8 | g.99699157A>G | CA1117103562 | VPS13B | c.6122-368A>G (n.6122-368A>G) n.6192-368A>G c.*1804-368A>G (n.*1804-368A>G) c.6047-368A>G (n.6047-368A>G) c.6119-368A>G (n.6119-368A>G) c.6044-368A>G (n.6044-368A>G) c.5744-368A>G (n.5744-368A>G) c.3008-368A>G (n.3008-368A>G) c.1901-368A>G (n.1901-368A>G) c.5927-368A>G (n.5927-368A>G) c.1679-368A>G (n.1679-368A>G) c.4907-368A>G (n.4907-368A>G) n.6083-368A>G | gnomAD v3 gnomAD v4 |
8 | g.99699157A>T | CA583878337 | VPS13B | c.6122-368A>T (n.6122-368A>T) n.6192-368A>T c.*1804-368A>T (n.*1804-368A>T) c.6047-368A>T (n.6047-368A>T) c.6119-368A>T (n.6119-368A>T) c.6044-368A>T (n.6044-368A>T) c.5744-368A>T (n.5744-368A>T) c.3008-368A>T (n.3008-368A>T) c.1901-368A>T (n.1901-368A>T) c.5927-368A>T (n.5927-368A>T) c.1679-368A>T (n.1679-368A>T) c.4907-368A>T (n.4907-368A>T) n.6083-368A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699157_99699158del | CA1117103565 | VPS13B | c.6122-368_6122-367del (n.6122-368_6122-367del) n.6192-368_6192-367del c.*1804-368_*1804-367del (n.*1804-368_*1804-367del) c.6047-368_6047-367del (n.6047-368_6047-367del) c.6119-368_6119-367del (n.6119-368_6119-367del) c.6044-368_6044-367del (n.6044-368_6044-367del) c.5744-368_5744-367del (n.5744-368_5744-367del) c.3008-368_3008-367del (n.3008-368_3008-367del) c.1901-368_1901-367del (n.1901-368_1901-367del) c.5927-368_5927-367del (n.5927-368_5927-367del) c.1679-368_1679-367del (n.1679-368_1679-367del) c.4907-368_4907-367del (n.4907-368_4907-367del) n.6083-368_6083-367del | gnomAD v3 gnomAD v4 |
8 | g.99699158del | CA1117103566 | VPS13B | c.6122-367del (n.6122-367del) n.6192-367del c.*1804-367del (n.*1804-367del) c.6047-367del (n.6047-367del) c.6119-367del (n.6119-367del) c.6044-367del (n.6044-367del) c.5744-367del (n.5744-367del) c.3008-367del (n.3008-367del) c.1901-367del (n.1901-367del) c.5927-367del (n.5927-367del) c.1679-367del (n.1679-367del) c.4907-367del (n.4907-367del) n.6083-367del | gnomAD v3 gnomAD v4 |
8 | g.99699157_99699158insTTT | CA1117103575 | VPS13B | c.6122-368_6122-367insTTT (n.6122-368_6122-367insTTT) n.6192-368_6192-367insTTT c.*1804-368_*1804-367insTTT (n.*1804-368_*1804-367insTTT) c.6047-368_6047-367insTTT (n.6047-368_6047-367insTTT) c.6119-368_6119-367insTTT (n.6119-368_6119-367insTTT) c.6044-368_6044-367insTTT (n.6044-368_6044-367insTTT) c.5744-368_5744-367insTTT (n.5744-368_5744-367insTTT) c.3008-368_3008-367insTTT (n.3008-368_3008-367insTTT) c.1901-368_1901-367insTTT (n.1901-368_1901-367insTTT) c.5927-368_5927-367insTTT (n.5927-368_5927-367insTTT) c.1679-368_1679-367insTTT (n.1679-368_1679-367insTTT) c.4907-368_4907-367insTTT (n.4907-368_4907-367insTTT) n.6083-368_6083-367insTTT | gnomAD v3 gnomAD v4 |
8 | g.99699157_99699158insTTTT | CA1117103570 | VPS13B | c.6122-368_6122-367insTTTT (n.6122-368_6122-367insTTTT) n.6192-368_6192-367insTTTT c.*1804-368_*1804-367insTTTT (n.*1804-368_*1804-367insTTTT) c.6047-368_6047-367insTTTT (n.6047-368_6047-367insTTTT) c.6119-368_6119-367insTTTT (n.6119-368_6119-367insTTTT) c.6044-368_6044-367insTTTT (n.6044-368_6044-367insTTTT) c.5744-368_5744-367insTTTT (n.5744-368_5744-367insTTTT) c.3008-368_3008-367insTTTT (n.3008-368_3008-367insTTTT) c.1901-368_1901-367insTTTT (n.1901-368_1901-367insTTTT) c.5927-368_5927-367insTTTT (n.5927-368_5927-367insTTTT) c.1679-368_1679-367insTTTT (n.1679-368_1679-367insTTTT) c.4907-368_4907-367insTTTT (n.4907-368_4907-367insTTTT) n.6083-368_6083-367insTTTT | gnomAD v3 gnomAD v4 |
8 | g.99699158A>G | CA1117103573 | VPS13B | c.6122-367A>G (n.6122-367A>G) n.6192-367A>G c.*1804-367A>G (n.*1804-367A>G) c.6047-367A>G (n.6047-367A>G) c.6119-367A>G (n.6119-367A>G) c.6044-367A>G (n.6044-367A>G) c.5744-367A>G (n.5744-367A>G) c.3008-367A>G (n.3008-367A>G) c.1901-367A>G (n.1901-367A>G) c.5927-367A>G (n.5927-367A>G) c.1679-367A>G (n.1679-367A>G) c.4907-367A>G (n.4907-367A>G) n.6083-367A>G | gnomAD v3 gnomAD v4 |
8 | g.99699158A>T | CA1117103574 | VPS13B | c.6122-367A>T (n.6122-367A>T) n.6192-367A>T c.*1804-367A>T (n.*1804-367A>T) c.6047-367A>T (n.6047-367A>T) c.6119-367A>T (n.6119-367A>T) c.6044-367A>T (n.6044-367A>T) c.5744-367A>T (n.5744-367A>T) c.3008-367A>T (n.3008-367A>T) c.1901-367A>T (n.1901-367A>T) c.5927-367A>T (n.5927-367A>T) c.1679-367A>T (n.1679-367A>T) c.4907-367A>T (n.4907-367A>T) n.6083-367A>T | gnomAD v3 gnomAD v4 |
8 | g.99699159_99699160del | CA1117103572 | VPS13B | c.6122-366_6122-365del (n.6122-366_6122-365del) n.6192-366_6192-365del c.*1804-366_*1804-365del (n.*1804-366_*1804-365del) c.6047-366_6047-365del (n.6047-366_6047-365del) c.6119-366_6119-365del (n.6119-366_6119-365del) c.6044-366_6044-365del (n.6044-366_6044-365del) c.5744-366_5744-365del (n.5744-366_5744-365del) c.3008-366_3008-365del (n.3008-366_3008-365del) c.1901-366_1901-365del (n.1901-366_1901-365del) c.5927-366_5927-365del (n.5927-366_5927-365del) c.1679-366_1679-365del (n.1679-366_1679-365del) c.4907-366_4907-365del (n.4907-366_4907-365del) n.6083-366_6083-365del | gnomAD v3 gnomAD v4 |
8 | g.99699159del | CA1117103582 | VPS13B | c.6122-366del (n.6122-366del) n.6192-366del c.*1804-366del (n.*1804-366del) c.6047-366del (n.6047-366del) c.6119-366del (n.6119-366del) c.6044-366del (n.6044-366del) c.5744-366del (n.5744-366del) c.3008-366del (n.3008-366del) c.1901-366del (n.1901-366del) c.5927-366del (n.5927-366del) c.1679-366del (n.1679-366del) c.4907-366del (n.4907-366del) n.6083-366del | gnomAD v3 gnomAD v4 |
8 | g.99699159G>A | CA183025194 | VPS13B | c.6122-366G>A (n.6122-366G>A) n.6192-366G>A c.*1804-366G>A (n.*1804-366G>A) c.6047-366G>A (n.6047-366G>A) c.6119-366G>A (n.6119-366G>A) c.6044-366G>A (n.6044-366G>A) c.5744-366G>A (n.5744-366G>A) c.3008-366G>A (n.3008-366G>A) c.1901-366G>A (n.1901-366G>A) c.5927-366G>A (n.5927-366G>A) c.1679-366G>A (n.1679-366G>A) c.4907-366G>A (n.4907-366G>A) n.6083-366G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699159G= | CA1805814285 | VPS13B | c.6122-366G= (n.6122-366G=) n.6192-366G= c.*1804-366G= (n.*1804-366G=) c.6047-366G= (n.6047-366G=) c.6119-366G= (n.6119-366G=) c.6044-366G= (n.6044-366G=) c.5744-366G= (n.5744-366G=) c.3008-366G= (n.3008-366G=) c.1901-366G= (n.1901-366G=) c.5927-366G= (n.5927-366G=) c.1679-366G= (n.1679-366G=) c.4907-366G= (n.4907-366G=) n.6083-366G= | |
8 | g.99699159G>T | CA1117103585 | VPS13B | c.6122-366G>T (n.6122-366G>T) n.6192-366G>T c.*1804-366G>T (n.*1804-366G>T) c.6047-366G>T (n.6047-366G>T) c.6119-366G>T (n.6119-366G>T) c.6044-366G>T (n.6044-366G>T) c.5744-366G>T (n.5744-366G>T) c.3008-366G>T (n.3008-366G>T) c.1901-366G>T (n.1901-366G>T) c.5927-366G>T (n.5927-366G>T) c.1679-366G>T (n.1679-366G>T) c.4907-366G>T (n.4907-366G>T) n.6083-366G>T | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699160A>T | CA2602569009 | VPS13B | c.6122-365A>T (n.6122-365A>T) n.6192-365A>T c.*1804-365A>T (n.*1804-365A>T) c.6047-365A>T (n.6047-365A>T) c.6119-365A>T (n.6119-365A>T) c.6044-365A>T (n.6044-365A>T) c.5744-365A>T (n.5744-365A>T) c.3008-365A>T (n.3008-365A>T) c.1901-365A>T (n.1901-365A>T) c.5927-365A>T (n.5927-365A>T) c.1679-365A>T (n.1679-365A>T) c.4907-365A>T (n.4907-365A>T) n.6083-365A>T | gnomAD v3 gnomAD v4 |
8 | g.99699160_99699161insTTTTT | CA1117103587 | VPS13B | c.6122-365_6122-364insTTTTT (n.6122-365_6122-364insTTTTT) n.6192-365_6192-364insTTTTT c.*1804-365_*1804-364insTTTTT (n.*1804-365_*1804-364insTTTTT) c.6047-365_6047-364insTTTTT (n.6047-365_6047-364insTTTTT) c.6119-365_6119-364insTTTTT (n.6119-365_6119-364insTTTTT) c.6044-365_6044-364insTTTTT (n.6044-365_6044-364insTTTTT) c.5744-365_5744-364insTTTTT (n.5744-365_5744-364insTTTTT) c.3008-365_3008-364insTTTTT (n.3008-365_3008-364insTTTTT) c.1901-365_1901-364insTTTTT (n.1901-365_1901-364insTTTTT) c.5927-365_5927-364insTTTTT (n.5927-365_5927-364insTTTTT) c.1679-365_1679-364insTTTTT (n.1679-365_1679-364insTTTTT) c.4907-365_4907-364insTTTTT (n.4907-365_4907-364insTTTTT) n.6083-365_6083-364insTTTTT | gnomAD v3 gnomAD v4 |
8 | g.99699162A>T | CA2781476340 | VPS13B | c.6122-363A>T (n.6122-363A>T) n.6192-363A>T c.*1804-363A>T (n.*1804-363A>T) c.6047-363A>T (n.6047-363A>T) c.6119-363A>T (n.6119-363A>T) c.6044-363A>T (n.6044-363A>T) c.5744-363A>T (n.5744-363A>T) c.3008-363A>T (n.3008-363A>T) c.1901-363A>T (n.1901-363A>T) c.5927-363A>T (n.5927-363A>T) c.1679-363A>T (n.1679-363A>T) c.4907-363A>T (n.4907-363A>T) n.6083-363A>T | |
8 | g.99699162_99699173delinsAGGCCAGTTTCA | CA1805814293 | VPS13B | c.6122-363_6122-352delinsAGGCCAGTTTCA (n.6122-363_6122-352delinsAGGCCAGTTTCA) n.6192-363_6192-352delinsAGGCCAGTTTCA c.*1804-363_*1804-352delinsAGGCCAGTTTCA (n.*1804-363_*1804-352delinsAGGCCAGTTTCA) c.6047-363_6047-352delinsAGGCCAGTTTCA (n.6047-363_6047-352delinsAGGCCAGTTTCA) c.6119-363_6119-352delinsAGGCCAGTTTCA (n.6119-363_6119-352delinsAGGCCAGTTTCA) c.6044-363_6044-352delinsAGGCCAGTTTCA (n.6044-363_6044-352delinsAGGCCAGTTTCA) c.5744-363_5744-352delinsAGGCCAGTTTCA (n.5744-363_5744-352delinsAGGCCAGTTTCA) c.3008-363_3008-352delinsAGGCCAGTTTCA (n.3008-363_3008-352delinsAGGCCAGTTTCA) c.1901-363_1901-352delinsAGGCCAGTTTCA (n.1901-363_1901-352delinsAGGCCAGTTTCA) c.5927-363_5927-352delinsAGGCCAGTTTCA (n.5927-363_5927-352delinsAGGCCAGTTTCA) c.1679-363_1679-352delinsAGGCCAGTTTCA (n.1679-363_1679-352delinsAGGCCAGTTTCA) c.4907-363_4907-352delinsAGGCCAGTTTCA (n.4907-363_4907-352delinsAGGCCAGTTTCA) n.6083-363_6083-352delinsAGGCCAGTTTCA | |
8 | g.99699163G>A | CA183025198 | VPS13B | c.6122-362G>A (n.6122-362G>A) n.6192-362G>A c.*1804-362G>A (n.*1804-362G>A) c.6047-362G>A (n.6047-362G>A) c.6119-362G>A (n.6119-362G>A) c.6044-362G>A (n.6044-362G>A) c.5744-362G>A (n.5744-362G>A) c.3008-362G>A (n.3008-362G>A) c.1901-362G>A (n.1901-362G>A) c.5927-362G>A (n.5927-362G>A) c.1679-362G>A (n.1679-362G>A) c.4907-362G>A (n.4907-362G>A) n.6083-362G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699163G= | CA1805814298 | VPS13B | c.6122-362G= (n.6122-362G=) n.6192-362G= c.*1804-362G= (n.*1804-362G=) c.6047-362G= (n.6047-362G=) c.6119-362G= (n.6119-362G=) c.6044-362G= (n.6044-362G=) c.5744-362G= (n.5744-362G=) c.3008-362G= (n.3008-362G=) c.1901-362G= (n.1901-362G=) c.5927-362G= (n.5927-362G=) c.1679-362G= (n.1679-362G=) c.4907-362G= (n.4907-362G=) n.6083-362G= | |
8 | g.99699163G>T | CA1117103593 | VPS13B | c.6122-362G>T (n.6122-362G>T) n.6192-362G>T c.*1804-362G>T (n.*1804-362G>T) c.6047-362G>T (n.6047-362G>T) c.6119-362G>T (n.6119-362G>T) c.6044-362G>T (n.6044-362G>T) c.5744-362G>T (n.5744-362G>T) c.3008-362G>T (n.3008-362G>T) c.1901-362G>T (n.1901-362G>T) c.5927-362G>T (n.5927-362G>T) c.1679-362G>T (n.1679-362G>T) c.4907-362G>T (n.4907-362G>T) n.6083-362G>T | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699163_99699173delinsAGGACAT | CA183025196 | VPS13B | c.6122-362_6122-352delinsAGGACAT (n.6122-362_6122-352delinsAGGACAT) n.6192-362_6192-352delinsAGGACAT c.*1804-362_*1804-352delinsAGGACAT (n.*1804-362_*1804-352delinsAGGACAT) c.6047-362_6047-352delinsAGGACAT (n.6047-362_6047-352delinsAGGACAT) c.6119-362_6119-352delinsAGGACAT (n.6119-362_6119-352delinsAGGACAT) c.6044-362_6044-352delinsAGGACAT (n.6044-362_6044-352delinsAGGACAT) c.5744-362_5744-352delinsAGGACAT (n.5744-362_5744-352delinsAGGACAT) c.3008-362_3008-352delinsAGGACAT (n.3008-362_3008-352delinsAGGACAT) c.1901-362_1901-352delinsAGGACAT (n.1901-362_1901-352delinsAGGACAT) c.5927-362_5927-352delinsAGGACAT (n.5927-362_5927-352delinsAGGACAT) c.1679-362_1679-352delinsAGGACAT (n.1679-362_1679-352delinsAGGACAT) c.4907-362_4907-352delinsAGGACAT (n.4907-362_4907-352delinsAGGACAT) n.6083-362_6083-352delinsAGGACAT | dbSNP |
8 | g.99699164G>A | CA1805814302 | VPS13B | c.6122-361G>A (n.6122-361G>A) n.6192-361G>A c.*1804-361G>A (n.*1804-361G>A) c.6047-361G>A (n.6047-361G>A) c.6119-361G>A (n.6119-361G>A) c.6044-361G>A (n.6044-361G>A) c.5744-361G>A (n.5744-361G>A) c.3008-361G>A (n.3008-361G>A) c.1901-361G>A (n.1901-361G>A) c.5927-361G>A (n.5927-361G>A) c.1679-361G>A (n.1679-361G>A) c.4907-361G>A (n.4907-361G>A) n.6083-361G>A | dbSNP |
8 | g.99699164G= | CA1805814301 | VPS13B | c.6122-361G= (n.6122-361G=) n.6192-361G= c.*1804-361G= (n.*1804-361G=) c.6047-361G= (n.6047-361G=) c.6119-361G= (n.6119-361G=) c.6044-361G= (n.6044-361G=) c.5744-361G= (n.5744-361G=) c.3008-361G= (n.3008-361G=) c.1901-361G= (n.1901-361G=) c.5927-361G= (n.5927-361G=) c.1679-361G= (n.1679-361G=) c.4907-361G= (n.4907-361G=) n.6083-361G= | |
8 | g.99699165C>A | CA1117103596 | VPS13B | c.6122-360C>A (n.6122-360C>A) n.6192-360C>A c.*1804-360C>A (n.*1804-360C>A) c.6047-360C>A (n.6047-360C>A) c.6119-360C>A (n.6119-360C>A) c.6044-360C>A (n.6044-360C>A) c.5744-360C>A (n.5744-360C>A) c.3008-360C>A (n.3008-360C>A) c.1901-360C>A (n.1901-360C>A) c.5927-360C>A (n.5927-360C>A) c.1679-360C>A (n.1679-360C>A) c.4907-360C>A (n.4907-360C>A) n.6083-360C>A | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699165C= | CA1805814303 | VPS13B | c.6122-360C= (n.6122-360C=) n.6192-360C= c.*1804-360C= (n.*1804-360C=) c.6047-360C= (n.6047-360C=) c.6119-360C= (n.6119-360C=) c.6044-360C= (n.6044-360C=) c.5744-360C= (n.5744-360C=) c.3008-360C= (n.3008-360C=) c.1901-360C= (n.1901-360C=) c.5927-360C= (n.5927-360C=) c.1679-360C= (n.1679-360C=) c.4907-360C= (n.4907-360C=) n.6083-360C= | |
8 | g.99699165C>G | CA1117103597 | VPS13B | c.6122-360C>G (n.6122-360C>G) n.6192-360C>G c.*1804-360C>G (n.*1804-360C>G) c.6047-360C>G (n.6047-360C>G) c.6119-360C>G (n.6119-360C>G) c.6044-360C>G (n.6044-360C>G) c.5744-360C>G (n.5744-360C>G) c.3008-360C>G (n.3008-360C>G) c.1901-360C>G (n.1901-360C>G) c.5927-360C>G (n.5927-360C>G) c.1679-360C>G (n.1679-360C>G) c.4907-360C>G (n.4907-360C>G) n.6083-360C>G | gnomAD v3 gnomAD v4 |
8 | g.99699166C>A | CA1117103613 | VPS13B | c.6122-359C>A (n.6122-359C>A) n.6192-359C>A c.*1804-359C>A (n.*1804-359C>A) c.6047-359C>A (n.6047-359C>A) c.6119-359C>A (n.6119-359C>A) c.6044-359C>A (n.6044-359C>A) c.5744-359C>A (n.5744-359C>A) c.3008-359C>A (n.3008-359C>A) c.1901-359C>A (n.1901-359C>A) c.5927-359C>A (n.5927-359C>A) c.1679-359C>A (n.1679-359C>A) c.4907-359C>A (n.4907-359C>A) n.6083-359C>A | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699166C= | CA1805814304 | VPS13B | c.6122-359C= (n.6122-359C=) n.6192-359C= c.*1804-359C= (n.*1804-359C=) c.6047-359C= (n.6047-359C=) c.6119-359C= (n.6119-359C=) c.6044-359C= (n.6044-359C=) c.5744-359C= (n.5744-359C=) c.3008-359C= (n.3008-359C=) c.1901-359C= (n.1901-359C=) c.5927-359C= (n.5927-359C=) c.1679-359C= (n.1679-359C=) c.4907-359C= (n.4907-359C=) n.6083-359C= | |
8 | g.99699167A= | CA1805814306 | VPS13B | c.6122-358A= (n.6122-358A=) n.6192-358A= c.*1804-358A= (n.*1804-358A=) c.6047-358A= (n.6047-358A=) c.6119-358A= (n.6119-358A=) c.6044-358A= (n.6044-358A=) c.5744-358A= (n.5744-358A=) c.3008-358A= (n.3008-358A=) c.1901-358A= (n.1901-358A=) c.5927-358A= (n.5927-358A=) c.1679-358A= (n.1679-358A=) c.4907-358A= (n.4907-358A=) n.6083-358A= | |
8 | g.99699167A>C | CA1117103615 | VPS13B | c.6122-358A>C (n.6122-358A>C) n.6192-358A>C c.*1804-358A>C (n.*1804-358A>C) c.6047-358A>C (n.6047-358A>C) c.6119-358A>C (n.6119-358A>C) c.6044-358A>C (n.6044-358A>C) c.5744-358A>C (n.5744-358A>C) c.3008-358A>C (n.3008-358A>C) c.1901-358A>C (n.1901-358A>C) c.5927-358A>C (n.5927-358A>C) c.1679-358A>C (n.1679-358A>C) c.4907-358A>C (n.4907-358A>C) n.6083-358A>C | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699167A>T | CA1117103616 | VPS13B | c.6122-358A>T (n.6122-358A>T) n.6192-358A>T c.*1804-358A>T (n.*1804-358A>T) c.6047-358A>T (n.6047-358A>T) c.6119-358A>T (n.6119-358A>T) c.6044-358A>T (n.6044-358A>T) c.5744-358A>T (n.5744-358A>T) c.3008-358A>T (n.3008-358A>T) c.1901-358A>T (n.1901-358A>T) c.5927-358A>T (n.5927-358A>T) c.1679-358A>T (n.1679-358A>T) c.4907-358A>T (n.4907-358A>T) n.6083-358A>T | gnomAD v3 gnomAD v4 |
8 | g.99699168G>T | CA1117103622 | VPS13B | c.6122-357G>T (n.6122-357G>T) n.6192-357G>T c.*1804-357G>T (n.*1804-357G>T) c.6047-357G>T (n.6047-357G>T) c.6119-357G>T (n.6119-357G>T) c.6044-357G>T (n.6044-357G>T) c.5744-357G>T (n.5744-357G>T) c.3008-357G>T (n.3008-357G>T) c.1901-357G>T (n.1901-357G>T) c.5927-357G>T (n.5927-357G>T) c.1679-357G>T (n.1679-357G>T) c.4907-357G>T (n.4907-357G>T) n.6083-357G>T | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699169T>G | CA1117103623 | VPS13B | c.6122-356T>G (n.6122-356T>G) n.6192-356T>G c.*1804-356T>G (n.*1804-356T>G) c.6047-356T>G (n.6047-356T>G) c.6119-356T>G (n.6119-356T>G) c.6044-356T>G (n.6044-356T>G) c.5744-356T>G (n.5744-356T>G) c.3008-356T>G (n.3008-356T>G) c.1901-356T>G (n.1901-356T>G) c.5927-356T>G (n.5927-356T>G) c.1679-356T>G (n.1679-356T>G) c.4907-356T>G (n.4907-356T>G) n.6083-356T>G | gnomAD v3 gnomAD v4 |
8 | g.99699170T>G | CA1805814309 | VPS13B | c.6122-355T>G (n.6122-355T>G) n.6192-355T>G c.*1804-355T>G (n.*1804-355T>G) c.6047-355T>G (n.6047-355T>G) c.6119-355T>G (n.6119-355T>G) c.6044-355T>G (n.6044-355T>G) c.5744-355T>G (n.5744-355T>G) c.3008-355T>G (n.3008-355T>G) c.1901-355T>G (n.1901-355T>G) c.5927-355T>G (n.5927-355T>G) c.1679-355T>G (n.1679-355T>G) c.4907-355T>G (n.4907-355T>G) n.6083-355T>G | dbSNP |
8 | g.99699170T= | CA1805814308 | VPS13B | c.6122-355T= (n.6122-355T=) n.6192-355T= c.*1804-355T= (n.*1804-355T=) c.6047-355T= (n.6047-355T=) c.6119-355T= (n.6119-355T=) c.6044-355T= (n.6044-355T=) c.5744-355T= (n.5744-355T=) c.3008-355T= (n.3008-355T=) c.1901-355T= (n.1901-355T=) c.5927-355T= (n.5927-355T=) c.1679-355T= (n.1679-355T=) c.4907-355T= (n.4907-355T=) n.6083-355T= | |
8 | g.99699171T>C | CA1805814313 | VPS13B | c.6122-354T>C (n.6122-354T>C) n.6192-354T>C c.*1804-354T>C (n.*1804-354T>C) c.6047-354T>C (n.6047-354T>C) c.6119-354T>C (n.6119-354T>C) c.6044-354T>C (n.6044-354T>C) c.5744-354T>C (n.5744-354T>C) c.3008-354T>C (n.3008-354T>C) c.1901-354T>C (n.1901-354T>C) c.5927-354T>C (n.5927-354T>C) c.1679-354T>C (n.1679-354T>C) c.4907-354T>C (n.4907-354T>C) n.6083-354T>C | dbSNP |
8 | g.99699171T= | CA1805814312 | VPS13B | c.6122-354T= (n.6122-354T=) n.6192-354T= c.*1804-354T= (n.*1804-354T=) c.6047-354T= (n.6047-354T=) c.6119-354T= (n.6119-354T=) c.6044-354T= (n.6044-354T=) c.5744-354T= (n.5744-354T=) c.3008-354T= (n.3008-354T=) c.1901-354T= (n.1901-354T=) c.5927-354T= (n.5927-354T=) c.1679-354T= (n.1679-354T=) c.4907-354T= (n.4907-354T=) n.6083-354T= | |
8 | g.99699172C>A | CA1117103628 | VPS13B | c.6122-353C>A (n.6122-353C>A) n.6192-353C>A c.*1804-353C>A (n.*1804-353C>A) c.6047-353C>A (n.6047-353C>A) c.6119-353C>A (n.6119-353C>A) c.6044-353C>A (n.6044-353C>A) c.5744-353C>A (n.5744-353C>A) c.3008-353C>A (n.3008-353C>A) c.1901-353C>A (n.1901-353C>A) c.5927-353C>A (n.5927-353C>A) c.1679-353C>A (n.1679-353C>A) c.4907-353C>A (n.4907-353C>A) n.6083-353C>A | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699172C= | CA1805814320 | VPS13B | c.6122-353C= (n.6122-353C=) n.6192-353C= c.*1804-353C= (n.*1804-353C=) c.6047-353C= (n.6047-353C=) c.6119-353C= (n.6119-353C=) c.6044-353C= (n.6044-353C=) c.5744-353C= (n.5744-353C=) c.3008-353C= (n.3008-353C=) c.1901-353C= (n.1901-353C=) c.5927-353C= (n.5927-353C=) c.1679-353C= (n.1679-353C=) c.4907-353C= (n.4907-353C=) n.6083-353C= | |
8 | g.99699172C>T | CA583878339 | VPS13B | c.6122-353C>T (n.6122-353C>T) n.6192-353C>T c.*1804-353C>T (n.*1804-353C>T) c.6047-353C>T (n.6047-353C>T) c.6119-353C>T (n.6119-353C>T) c.6044-353C>T (n.6044-353C>T) c.5744-353C>T (n.5744-353C>T) c.3008-353C>T (n.3008-353C>T) c.1901-353C>T (n.1901-353C>T) c.5927-353C>T (n.5927-353C>T) c.1679-353C>T (n.1679-353C>T) c.4907-353C>T (n.4907-353C>T) n.6083-353C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699173A>C | CA1117103632 | VPS13B | c.6122-352A>C (n.6122-352A>C) n.6192-352A>C c.*1804-352A>C (n.*1804-352A>C) c.6047-352A>C (n.6047-352A>C) c.6119-352A>C (n.6119-352A>C) c.6044-352A>C (n.6044-352A>C) c.5744-352A>C (n.5744-352A>C) c.3008-352A>C (n.3008-352A>C) c.1901-352A>C (n.1901-352A>C) c.5927-352A>C (n.5927-352A>C) c.1679-352A>C (n.1679-352A>C) c.4907-352A>C (n.4907-352A>C) n.6083-352A>C | gnomAD v3 gnomAD v4 |
8 | g.99699173A>T | CA1117103633 | VPS13B | c.6122-352A>T (n.6122-352A>T) n.6192-352A>T c.*1804-352A>T (n.*1804-352A>T) c.6047-352A>T (n.6047-352A>T) c.6119-352A>T (n.6119-352A>T) c.6044-352A>T (n.6044-352A>T) c.5744-352A>T (n.5744-352A>T) c.3008-352A>T (n.3008-352A>T) c.1901-352A>T (n.1901-352A>T) c.5927-352A>T (n.5927-352A>T) c.1679-352A>T (n.1679-352A>T) c.4907-352A>T (n.4907-352A>T) n.6083-352A>T | gnomAD v3 gnomAD v4 |
8 | g.99699174T>A | CA1117103635 | VPS13B | c.6122-351T>A (n.6122-351T>A) n.6192-351T>A c.*1804-351T>A (n.*1804-351T>A) c.6047-351T>A (n.6047-351T>A) c.6119-351T>A (n.6119-351T>A) c.6044-351T>A (n.6044-351T>A) c.5744-351T>A (n.5744-351T>A) c.3008-351T>A (n.3008-351T>A) c.1901-351T>A (n.1901-351T>A) c.5927-351T>A (n.5927-351T>A) c.1679-351T>A (n.1679-351T>A) c.4907-351T>A (n.4907-351T>A) n.6083-351T>A | gnomAD v3 gnomAD v4 |
8 | g.99699175A= | CA1805814331 | VPS13B | c.6122-350A= (n.6122-350A=) n.6192-350A= c.*1804-350A= (n.*1804-350A=) c.6047-350A= (n.6047-350A=) c.6119-350A= (n.6119-350A=) c.6044-350A= (n.6044-350A=) c.5744-350A= (n.5744-350A=) c.3008-350A= (n.3008-350A=) c.1901-350A= (n.1901-350A=) c.5927-350A= (n.5927-350A=) c.1679-350A= (n.1679-350A=) c.4907-350A= (n.4907-350A=) n.6083-350A= | |
8 | g.99699175A>T | CA183025200 | VPS13B | c.6122-350A>T (n.6122-350A>T) n.6192-350A>T c.*1804-350A>T (n.*1804-350A>T) c.6047-350A>T (n.6047-350A>T) c.6119-350A>T (n.6119-350A>T) c.6044-350A>T (n.6044-350A>T) c.5744-350A>T (n.5744-350A>T) c.3008-350A>T (n.3008-350A>T) c.1901-350A>T (n.1901-350A>T) c.5927-350A>T (n.5927-350A>T) c.1679-350A>T (n.1679-350A>T) c.4907-350A>T (n.4907-350A>T) n.6083-350A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699176T>A | CA1117103646 | VPS13B | c.6122-349T>A (n.6122-349T>A) n.6192-349T>A c.*1804-349T>A (n.*1804-349T>A) c.6047-349T>A (n.6047-349T>A) c.6119-349T>A (n.6119-349T>A) c.6044-349T>A (n.6044-349T>A) c.5744-349T>A (n.5744-349T>A) c.3008-349T>A (n.3008-349T>A) c.1901-349T>A (n.1901-349T>A) c.5927-349T>A (n.5927-349T>A) c.1679-349T>A (n.1679-349T>A) c.4907-349T>A (n.4907-349T>A) n.6083-349T>A | gnomAD v3 gnomAD v4 |
8 | g.99699176T>C | CA2602569011 | VPS13B | c.6122-349T>C (n.6122-349T>C) n.6192-349T>C c.*1804-349T>C (n.*1804-349T>C) c.6047-349T>C (n.6047-349T>C) c.6119-349T>C (n.6119-349T>C) c.6044-349T>C (n.6044-349T>C) c.5744-349T>C (n.5744-349T>C) c.3008-349T>C (n.3008-349T>C) c.1901-349T>C (n.1901-349T>C) c.5927-349T>C (n.5927-349T>C) c.1679-349T>C (n.1679-349T>C) c.4907-349T>C (n.4907-349T>C) n.6083-349T>C | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699177A>T | CA1117103651 | VPS13B | c.6122-348A>T (n.6122-348A>T) n.6192-348A>T c.*1804-348A>T (n.*1804-348A>T) c.6047-348A>T (n.6047-348A>T) c.6119-348A>T (n.6119-348A>T) c.6044-348A>T (n.6044-348A>T) c.5744-348A>T (n.5744-348A>T) c.3008-348A>T (n.3008-348A>T) c.1901-348A>T (n.1901-348A>T) c.5927-348A>T (n.5927-348A>T) c.1679-348A>T (n.1679-348A>T) c.4907-348A>T (n.4907-348A>T) n.6083-348A>T | gnomAD v3 gnomAD v4 |
8 | g.99699178G>A | CA1117103654 | VPS13B | c.6122-347G>A (n.6122-347G>A) n.6192-347G>A c.*1804-347G>A (n.*1804-347G>A) c.6047-347G>A (n.6047-347G>A) c.6119-347G>A (n.6119-347G>A) c.6044-347G>A (n.6044-347G>A) c.5744-347G>A (n.5744-347G>A) c.3008-347G>A (n.3008-347G>A) c.1901-347G>A (n.1901-347G>A) c.5927-347G>A (n.5927-347G>A) c.1679-347G>A (n.1679-347G>A) c.4907-347G>A (n.4907-347G>A) n.6083-347G>A | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699178G>C | CA583878341 | VPS13B | c.6122-347G>C (n.6122-347G>C) n.6192-347G>C c.*1804-347G>C (n.*1804-347G>C) c.6047-347G>C (n.6047-347G>C) c.6119-347G>C (n.6119-347G>C) c.6044-347G>C (n.6044-347G>C) c.5744-347G>C (n.5744-347G>C) c.3008-347G>C (n.3008-347G>C) c.1901-347G>C (n.1901-347G>C) c.5927-347G>C (n.5927-347G>C) c.1679-347G>C (n.1679-347G>C) c.4907-347G>C (n.4907-347G>C) n.6083-347G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699178G= | CA1805814335 | VPS13B | c.6122-347G= (n.6122-347G=) n.6192-347G= c.*1804-347G= (n.*1804-347G=) c.6047-347G= (n.6047-347G=) c.6119-347G= (n.6119-347G=) c.6044-347G= (n.6044-347G=) c.5744-347G= (n.5744-347G=) c.3008-347G= (n.3008-347G=) c.1901-347G= (n.1901-347G=) c.5927-347G= (n.5927-347G=) c.1679-347G= (n.1679-347G=) c.4907-347G= (n.4907-347G=) n.6083-347G= | |
8 | g.99699178G>T | CA1117103655 | VPS13B | c.6122-347G>T (n.6122-347G>T) n.6192-347G>T c.*1804-347G>T (n.*1804-347G>T) c.6047-347G>T (n.6047-347G>T) c.6119-347G>T (n.6119-347G>T) c.6044-347G>T (n.6044-347G>T) c.5744-347G>T (n.5744-347G>T) c.3008-347G>T (n.3008-347G>T) c.1901-347G>T (n.1901-347G>T) c.5927-347G>T (n.5927-347G>T) c.1679-347G>T (n.1679-347G>T) c.4907-347G>T (n.4907-347G>T) n.6083-347G>T | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699179G>T | CA1117103657 | VPS13B | c.6122-346G>T (n.6122-346G>T) n.6192-346G>T c.*1804-346G>T (n.*1804-346G>T) c.6047-346G>T (n.6047-346G>T) c.6119-346G>T (n.6119-346G>T) c.6044-346G>T (n.6044-346G>T) c.5744-346G>T (n.5744-346G>T) c.3008-346G>T (n.3008-346G>T) c.1901-346G>T (n.1901-346G>T) c.5927-346G>T (n.5927-346G>T) c.1679-346G>T (n.1679-346G>T) c.4907-346G>T (n.4907-346G>T) n.6083-346G>T | gnomAD v3 gnomAD v4 |
8 | g.99699180T>G | CA2602569013 | VPS13B | c.6122-345T>G (n.6122-345T>G) n.6192-345T>G c.*1804-345T>G (n.*1804-345T>G) c.6047-345T>G (n.6047-345T>G) c.6119-345T>G (n.6119-345T>G) c.6044-345T>G (n.6044-345T>G) c.5744-345T>G (n.5744-345T>G) c.3008-345T>G (n.3008-345T>G) c.1901-345T>G (n.1901-345T>G) c.5927-345T>G (n.5927-345T>G) c.1679-345T>G (n.1679-345T>G) c.4907-345T>G (n.4907-345T>G) n.6083-345T>G | gnomAD v3 gnomAD v4 |
8 | g.99699181A>T | CA1117103669 | VPS13B | c.6122-344A>T (n.6122-344A>T) n.6192-344A>T c.*1804-344A>T (n.*1804-344A>T) c.6047-344A>T (n.6047-344A>T) c.6119-344A>T (n.6119-344A>T) c.6044-344A>T (n.6044-344A>T) c.5744-344A>T (n.5744-344A>T) c.3008-344A>T (n.3008-344A>T) c.1901-344A>T (n.1901-344A>T) c.5927-344A>T (n.5927-344A>T) c.1679-344A>T (n.1679-344A>T) c.4907-344A>T (n.4907-344A>T) n.6083-344A>T | gnomAD v3 gnomAD v4 |
8 | g.99699183C>A | CA1117103675 | VPS13B | c.6122-342C>A (n.6122-342C>A) n.6192-342C>A c.*1804-342C>A (n.*1804-342C>A) c.6047-342C>A (n.6047-342C>A) c.6119-342C>A (n.6119-342C>A) c.6044-342C>A (n.6044-342C>A) c.5744-342C>A (n.5744-342C>A) c.3008-342C>A (n.3008-342C>A) c.1901-342C>A (n.1901-342C>A) c.5927-342C>A (n.5927-342C>A) c.1679-342C>A (n.1679-342C>A) c.4907-342C>A (n.4907-342C>A) n.6083-342C>A | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699183C= | CA1805814338 | VPS13B | c.6122-342C= (n.6122-342C=) n.6192-342C= c.*1804-342C= (n.*1804-342C=) c.6047-342C= (n.6047-342C=) c.6119-342C= (n.6119-342C=) c.6044-342C= (n.6044-342C=) c.5744-342C= (n.5744-342C=) c.3008-342C= (n.3008-342C=) c.1901-342C= (n.1901-342C=) c.5927-342C= (n.5927-342C=) c.1679-342C= (n.1679-342C=) c.4907-342C= (n.4907-342C=) n.6083-342C= | |
8 | g.99699183_99699184delinsCA | CA1805814339 | VPS13B | c.6122-342_6122-341delinsCA (n.6122-342_6122-341delinsCA) n.6192-342_6192-341delinsCA c.*1804-342_*1804-341delinsCA (n.*1804-342_*1804-341delinsCA) c.6047-342_6047-341delinsCA (n.6047-342_6047-341delinsCA) c.6119-342_6119-341delinsCA (n.6119-342_6119-341delinsCA) c.6044-342_6044-341delinsCA (n.6044-342_6044-341delinsCA) c.5744-342_5744-341delinsCA (n.5744-342_5744-341delinsCA) c.3008-342_3008-341delinsCA (n.3008-342_3008-341delinsCA) c.1901-342_1901-341delinsCA (n.1901-342_1901-341delinsCA) c.5927-342_5927-341delinsCA (n.5927-342_5927-341delinsCA) c.1679-342_1679-341delinsCA (n.1679-342_1679-341delinsCA) c.4907-342_4907-341delinsCA (n.4907-342_4907-341delinsCA) n.6083-342_6083-341delinsCA | |
8 | g.99699186del | CA1805814342 | VPS13B | c.6122-339del (n.6122-339del) n.6192-339del c.*1804-339del (n.*1804-339del) c.6047-339del (n.6047-339del) c.6119-339del (n.6119-339del) c.6044-339del (n.6044-339del) c.5744-339del (n.5744-339del) c.3008-339del (n.3008-339del) c.1901-339del (n.1901-339del) c.5927-339del (n.5927-339del) c.1679-339del (n.1679-339del) c.4907-339del (n.4907-339del) n.6083-339del | dbSNP |
8 | g.99699185A= | CA1805814344 | VPS13B | c.6122-340A= (n.6122-340A=) n.6192-340A= c.*1804-340A= (n.*1804-340A=) c.6047-340A= (n.6047-340A=) c.6119-340A= (n.6119-340A=) c.6044-340A= (n.6044-340A=) c.5744-340A= (n.5744-340A=) c.3008-340A= (n.3008-340A=) c.1901-340A= (n.1901-340A=) c.5927-340A= (n.5927-340A=) c.1679-340A= (n.1679-340A=) c.4907-340A= (n.4907-340A=) n.6083-340A= | |
8 | g.99699185A>C | CA583878343 | VPS13B | c.6122-340A>C (n.6122-340A>C) n.6192-340A>C c.*1804-340A>C (n.*1804-340A>C) c.6047-340A>C (n.6047-340A>C) c.6119-340A>C (n.6119-340A>C) c.6044-340A>C (n.6044-340A>C) c.5744-340A>C (n.5744-340A>C) c.3008-340A>C (n.3008-340A>C) c.1901-340A>C (n.1901-340A>C) c.5927-340A>C (n.5927-340A>C) c.1679-340A>C (n.1679-340A>C) c.4907-340A>C (n.4907-340A>C) n.6083-340A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699186_99699189dup | CA2602569014 | VPS13B | c.6122-339_6122-336dup (n.6122-339_6122-336dup) n.6192-339_6192-336dup c.*1804-339_*1804-336dup (n.*1804-339_*1804-336dup) c.6047-339_6047-336dup (n.6047-339_6047-336dup) c.6119-339_6119-336dup (n.6119-339_6119-336dup) c.6044-339_6044-336dup (n.6044-339_6044-336dup) c.5744-339_5744-336dup (n.5744-339_5744-336dup) c.3008-339_3008-336dup (n.3008-339_3008-336dup) c.1901-339_1901-336dup (n.1901-339_1901-336dup) c.5927-339_5927-336dup (n.5927-339_5927-336dup) c.1679-339_1679-336dup (n.1679-339_1679-336dup) c.4907-339_4907-336dup (n.4907-339_4907-336dup) n.6083-339_6083-336dup | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699187C>A | CA1117103682 | VPS13B | c.6122-338C>A (n.6122-338C>A) n.6192-338C>A c.*1804-338C>A (n.*1804-338C>A) c.6047-338C>A (n.6047-338C>A) c.6119-338C>A (n.6119-338C>A) c.6044-338C>A (n.6044-338C>A) c.5744-338C>A (n.5744-338C>A) c.3008-338C>A (n.3008-338C>A) c.1901-338C>A (n.1901-338C>A) c.5927-338C>A (n.5927-338C>A) c.1679-338C>A (n.1679-338C>A) c.4907-338C>A (n.4907-338C>A) n.6083-338C>A | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699187C= | CA1805814348 | VPS13B | c.6122-338C= (n.6122-338C=) n.6192-338C= c.*1804-338C= (n.*1804-338C=) c.6047-338C= (n.6047-338C=) c.6119-338C= (n.6119-338C=) c.6044-338C= (n.6044-338C=) c.5744-338C= (n.5744-338C=) c.3008-338C= (n.3008-338C=) c.1901-338C= (n.1901-338C=) c.5927-338C= (n.5927-338C=) c.1679-338C= (n.1679-338C=) c.4907-338C= (n.4907-338C=) n.6083-338C= | |
8 | g.99699188T>A | CA2602569015 | VPS13B | c.6122-337T>A (n.6122-337T>A) n.6192-337T>A c.*1804-337T>A (n.*1804-337T>A) c.6047-337T>A (n.6047-337T>A) c.6119-337T>A (n.6119-337T>A) c.6044-337T>A (n.6044-337T>A) c.5744-337T>A (n.5744-337T>A) c.3008-337T>A (n.3008-337T>A) c.1901-337T>A (n.1901-337T>A) c.5927-337T>A (n.5927-337T>A) c.1679-337T>A (n.1679-337T>A) c.4907-337T>A (n.4907-337T>A) n.6083-337T>A | gnomAD v3 gnomAD v4 |
8 | g.99699188T>C | CA2781476341 | VPS13B | c.6122-337T>C (n.6122-337T>C) n.6192-337T>C c.*1804-337T>C (n.*1804-337T>C) c.6047-337T>C (n.6047-337T>C) c.6119-337T>C (n.6119-337T>C) c.6044-337T>C (n.6044-337T>C) c.5744-337T>C (n.5744-337T>C) c.3008-337T>C (n.3008-337T>C) c.1901-337T>C (n.1901-337T>C) c.5927-337T>C (n.5927-337T>C) c.1679-337T>C (n.1679-337T>C) c.4907-337T>C (n.4907-337T>C) n.6083-337T>C | |
8 | g.99699189G>A | CA2528185457 | VPS13B | c.6122-336G>A (n.6122-336G>A) n.6192-336G>A c.*1804-336G>A (n.*1804-336G>A) c.6047-336G>A (n.6047-336G>A) c.6119-336G>A (n.6119-336G>A) c.6044-336G>A (n.6044-336G>A) c.5744-336G>A (n.5744-336G>A) c.3008-336G>A (n.3008-336G>A) c.1901-336G>A (n.1901-336G>A) c.5927-336G>A (n.5927-336G>A) c.1679-336G>A (n.1679-336G>A) c.4907-336G>A (n.4907-336G>A) n.6083-336G>A | |
8 | g.99699189G>T | CA1117103683 | VPS13B | c.6122-336G>T (n.6122-336G>T) n.6192-336G>T c.*1804-336G>T (n.*1804-336G>T) c.6047-336G>T (n.6047-336G>T) c.6119-336G>T (n.6119-336G>T) c.6044-336G>T (n.6044-336G>T) c.5744-336G>T (n.5744-336G>T) c.3008-336G>T (n.3008-336G>T) c.1901-336G>T (n.1901-336G>T) c.5927-336G>T (n.5927-336G>T) c.1679-336G>T (n.1679-336G>T) c.4907-336G>T (n.4907-336G>T) n.6083-336G>T | gnomAD v3 gnomAD v4 |
8 | g.99699195C>A | CA2602569016 | VPS13B | c.6122-330C>A (n.6122-330C>A) n.6192-330C>A c.*1804-330C>A (n.*1804-330C>A) c.6047-330C>A (n.6047-330C>A) c.6119-330C>A (n.6119-330C>A) c.6044-330C>A (n.6044-330C>A) c.5744-330C>A (n.5744-330C>A) c.3008-330C>A (n.3008-330C>A) c.1901-330C>A (n.1901-330C>A) c.5927-330C>A (n.5927-330C>A) c.1679-330C>A (n.1679-330C>A) c.4907-330C>A (n.4907-330C>A) n.6083-330C>A | gnomAD v3 gnomAD v4 |
8 | g.99699196C= | CA1805814351 | VPS13B | c.6122-329C= (n.6122-329C=) n.6192-329C= c.*1804-329C= (n.*1804-329C=) c.6047-329C= (n.6047-329C=) c.6119-329C= (n.6119-329C=) c.6044-329C= (n.6044-329C=) c.5744-329C= (n.5744-329C=) c.3008-329C= (n.3008-329C=) c.1901-329C= (n.1901-329C=) c.5927-329C= (n.5927-329C=) c.1679-329C= (n.1679-329C=) c.4907-329C= (n.4907-329C=) n.6083-329C= | |
8 | g.99699196C>G | CA583878344 | VPS13B | c.6122-329C>G (n.6122-329C>G) n.6192-329C>G c.*1804-329C>G (n.*1804-329C>G) c.6047-329C>G (n.6047-329C>G) c.6119-329C>G (n.6119-329C>G) c.6044-329C>G (n.6044-329C>G) c.5744-329C>G (n.5744-329C>G) c.3008-329C>G (n.3008-329C>G) c.1901-329C>G (n.1901-329C>G) c.5927-329C>G (n.5927-329C>G) c.1679-329C>G (n.1679-329C>G) c.4907-329C>G (n.4907-329C>G) n.6083-329C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699198G>C | CA1805814358 | VPS13B | c.6122-327G>C (n.6122-327G>C) n.6192-327G>C c.*1804-327G>C (n.*1804-327G>C) c.6047-327G>C (n.6047-327G>C) c.6119-327G>C (n.6119-327G>C) c.6044-327G>C (n.6044-327G>C) c.5744-327G>C (n.5744-327G>C) c.3008-327G>C (n.3008-327G>C) c.1901-327G>C (n.1901-327G>C) c.5927-327G>C (n.5927-327G>C) c.1679-327G>C (n.1679-327G>C) c.4907-327G>C (n.4907-327G>C) n.6083-327G>C | dbSNP |
8 | g.99699198G= | CA1805814356 | VPS13B | c.6122-327G= (n.6122-327G=) n.6192-327G= c.*1804-327G= (n.*1804-327G=) c.6047-327G= (n.6047-327G=) c.6119-327G= (n.6119-327G=) c.6044-327G= (n.6044-327G=) c.5744-327G= (n.5744-327G=) c.3008-327G= (n.3008-327G=) c.1901-327G= (n.1901-327G=) c.5927-327G= (n.5927-327G=) c.1679-327G= (n.1679-327G=) c.4907-327G= (n.4907-327G=) n.6083-327G= | |
8 | g.99699202C>T | CA1117103685 | VPS13B | c.6122-323C>T (n.6122-323C>T) n.6192-323C>T c.*1804-323C>T (n.*1804-323C>T) c.6047-323C>T (n.6047-323C>T) c.6119-323C>T (n.6119-323C>T) c.6044-323C>T (n.6044-323C>T) c.5744-323C>T (n.5744-323C>T) c.3008-323C>T (n.3008-323C>T) c.1901-323C>T (n.1901-323C>T) c.5927-323C>T (n.5927-323C>T) c.1679-323C>T (n.1679-323C>T) c.4907-323C>T (n.4907-323C>T) n.6083-323C>T | gnomAD v3 gnomAD v4 |
8 | g.99699204T>C | CA1805814362 | VPS13B | c.6122-321T>C (n.6122-321T>C) n.6192-321T>C c.*1804-321T>C (n.*1804-321T>C) c.6047-321T>C (n.6047-321T>C) c.6119-321T>C (n.6119-321T>C) c.6044-321T>C (n.6044-321T>C) c.5744-321T>C (n.5744-321T>C) c.3008-321T>C (n.3008-321T>C) c.1901-321T>C (n.1901-321T>C) c.5927-321T>C (n.5927-321T>C) c.1679-321T>C (n.1679-321T>C) c.4907-321T>C (n.4907-321T>C) n.6083-321T>C | dbSNP |
8 | g.99699204T= | CA1805814361 | VPS13B | c.6122-321T= (n.6122-321T=) n.6192-321T= c.*1804-321T= (n.*1804-321T=) c.6047-321T= (n.6047-321T=) c.6119-321T= (n.6119-321T=) c.6044-321T= (n.6044-321T=) c.5744-321T= (n.5744-321T=) c.3008-321T= (n.3008-321T=) c.1901-321T= (n.1901-321T=) c.5927-321T= (n.5927-321T=) c.1679-321T= (n.1679-321T=) c.4907-321T= (n.4907-321T=) n.6083-321T= | |
8 | g.99699207T>C | CA857579795 | VPS13B | c.6122-318T>C (n.6122-318T>C) n.6192-318T>C c.*1804-318T>C (n.*1804-318T>C) c.6047-318T>C (n.6047-318T>C) c.6119-318T>C (n.6119-318T>C) c.6044-318T>C (n.6044-318T>C) c.5744-318T>C (n.5744-318T>C) c.3008-318T>C (n.3008-318T>C) c.1901-318T>C (n.1901-318T>C) c.5927-318T>C (n.5927-318T>C) c.1679-318T>C (n.1679-318T>C) c.4907-318T>C (n.4907-318T>C) n.6083-318T>C | dbSNP |
8 | g.99699207T= | CA1805814364 | VPS13B | c.6122-318T= (n.6122-318T=) n.6192-318T= c.*1804-318T= (n.*1804-318T=) c.6047-318T= (n.6047-318T=) c.6119-318T= (n.6119-318T=) c.6044-318T= (n.6044-318T=) c.5744-318T= (n.5744-318T=) c.3008-318T= (n.3008-318T=) c.1901-318T= (n.1901-318T=) c.5927-318T= (n.5927-318T=) c.1679-318T= (n.1679-318T=) c.4907-318T= (n.4907-318T=) n.6083-318T= | |
8 | g.99699208G= | CA1805814367 | VPS13B | c.6122-317G= (n.6122-317G=) n.6192-317G= c.*1804-317G= (n.*1804-317G=) c.6047-317G= (n.6047-317G=) c.6119-317G= (n.6119-317G=) c.6044-317G= (n.6044-317G=) c.5744-317G= (n.5744-317G=) c.3008-317G= (n.3008-317G=) c.1901-317G= (n.1901-317G=) c.5927-317G= (n.5927-317G=) c.1679-317G= (n.1679-317G=) c.4907-317G= (n.4907-317G=) n.6083-317G= | |
8 | g.99699208G>T | CA857579796 | VPS13B | c.6122-317G>T (n.6122-317G>T) n.6192-317G>T c.*1804-317G>T (n.*1804-317G>T) c.6047-317G>T (n.6047-317G>T) c.6119-317G>T (n.6119-317G>T) c.6044-317G>T (n.6044-317G>T) c.5744-317G>T (n.5744-317G>T) c.3008-317G>T (n.3008-317G>T) c.1901-317G>T (n.1901-317G>T) c.5927-317G>T (n.5927-317G>T) c.1679-317G>T (n.1679-317G>T) c.4907-317G>T (n.4907-317G>T) n.6083-317G>T | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699213G= | CA1805814372 | VPS13B | c.6122-312G= (n.6122-312G=) n.6192-312G= c.*1804-312G= (n.*1804-312G=) c.6047-312G= (n.6047-312G=) c.6119-312G= (n.6119-312G=) c.6044-312G= (n.6044-312G=) c.5744-312G= (n.5744-312G=) c.3008-312G= (n.3008-312G=) c.1901-312G= (n.1901-312G=) c.5927-312G= (n.5927-312G=) c.1679-312G= (n.1679-312G=) c.4907-312G= (n.4907-312G=) n.6083-312G= | |
8 | g.99699213G>T | CA1805814371 | VPS13B | c.6122-312G>T (n.6122-312G>T) n.6192-312G>T c.*1804-312G>T (n.*1804-312G>T) c.6047-312G>T (n.6047-312G>T) c.6119-312G>T (n.6119-312G>T) c.6044-312G>T (n.6044-312G>T) c.5744-312G>T (n.5744-312G>T) c.3008-312G>T (n.3008-312G>T) c.1901-312G>T (n.1901-312G>T) c.5927-312G>T (n.5927-312G>T) c.1679-312G>T (n.1679-312G>T) c.4907-312G>T (n.4907-312G>T) n.6083-312G>T | dbSNP |
8 | g.99699216C>G | CA2717946209 | VPS13B | c.6122-309C>G (n.6122-309C>G) n.6192-309C>G c.*1804-309C>G (n.*1804-309C>G) c.6047-309C>G (n.6047-309C>G) c.6119-309C>G (n.6119-309C>G) c.6044-309C>G (n.6044-309C>G) c.5744-309C>G (n.5744-309C>G) c.3008-309C>G (n.3008-309C>G) c.1901-309C>G (n.1901-309C>G) c.5927-309C>G (n.5927-309C>G) c.1679-309C>G (n.1679-309C>G) c.4907-309C>G (n.4907-309C>G) n.6083-309C>G | dbSNP |
8 | g.99699216C>T | CA2506917173 | VPS13B | c.6122-309C>T (n.6122-309C>T) n.6192-309C>T c.*1804-309C>T (n.*1804-309C>T) c.6047-309C>T (n.6047-309C>T) c.6119-309C>T (n.6119-309C>T) c.6044-309C>T (n.6044-309C>T) c.5744-309C>T (n.5744-309C>T) c.3008-309C>T (n.3008-309C>T) c.1901-309C>T (n.1901-309C>T) c.5927-309C>T (n.5927-309C>T) c.1679-309C>T (n.1679-309C>T) c.4907-309C>T (n.4907-309C>T) n.6083-309C>T | |
8 | g.99699219T= | CA1805814378 | VPS13B | c.6122-306T= (n.6122-306T=) n.6192-306T= c.*1804-306T= (n.*1804-306T=) c.6047-306T= (n.6047-306T=) c.6119-306T= (n.6119-306T=) c.6044-306T= (n.6044-306T=) c.5744-306T= (n.5744-306T=) c.3008-306T= (n.3008-306T=) c.1901-306T= (n.1901-306T=) c.5927-306T= (n.5927-306T=) c.1679-306T= (n.1679-306T=) c.4907-306T= (n.4907-306T=) n.6083-306T= | |
8 | g.99699221dup | CA857579797 | VPS13B | c.6122-304dup (n.6122-304dup) n.6192-304dup c.*1804-304dup (n.*1804-304dup) c.6047-304dup (n.6047-304dup) c.6119-304dup (n.6119-304dup) c.6044-304dup (n.6044-304dup) c.5744-304dup (n.5744-304dup) c.3008-304dup (n.3008-304dup) c.1901-304dup (n.1901-304dup) c.5927-304dup (n.5927-304dup) c.1679-304dup (n.1679-304dup) c.4907-304dup (n.4907-304dup) n.6083-304dup | dbSNP |
8 | g.99699223G>T | CA2781476342 | VPS13B | c.6122-302G>T (n.6122-302G>T) n.6192-302G>T c.*1804-302G>T (n.*1804-302G>T) c.6047-302G>T (n.6047-302G>T) c.6119-302G>T (n.6119-302G>T) c.6044-302G>T (n.6044-302G>T) c.5744-302G>T (n.5744-302G>T) c.3008-302G>T (n.3008-302G>T) c.1901-302G>T (n.1901-302G>T) c.5927-302G>T (n.5927-302G>T) c.1679-302G>T (n.1679-302G>T) c.4907-302G>T (n.4907-302G>T) n.6083-302G>T | |
8 | g.99699225G>A | CA1805814387 | VPS13B | c.6122-300G>A (n.6122-300G>A) n.6192-300G>A c.*1804-300G>A (n.*1804-300G>A) c.6047-300G>A (n.6047-300G>A) c.6119-300G>A (n.6119-300G>A) c.6044-300G>A (n.6044-300G>A) c.5744-300G>A (n.5744-300G>A) c.3008-300G>A (n.3008-300G>A) c.1901-300G>A (n.1901-300G>A) c.5927-300G>A (n.5927-300G>A) c.1679-300G>A (n.1679-300G>A) c.4907-300G>A (n.4907-300G>A) n.6083-300G>A | dbSNP |
8 | g.99699225G= | CA1805814385 | VPS13B | c.6122-300G= (n.6122-300G=) n.6192-300G= c.*1804-300G= (n.*1804-300G=) c.6047-300G= (n.6047-300G=) c.6119-300G= (n.6119-300G=) c.6044-300G= (n.6044-300G=) c.5744-300G= (n.5744-300G=) c.3008-300G= (n.3008-300G=) c.1901-300G= (n.1901-300G=) c.5927-300G= (n.5927-300G=) c.1679-300G= (n.1679-300G=) c.4907-300G= (n.4907-300G=) n.6083-300G= | |
8 | g.99699229A= | CA1805814390 | VPS13B | c.6122-296A= (n.6122-296A=) n.6192-296A= c.*1804-296A= (n.*1804-296A=) c.6047-296A= (n.6047-296A=) c.6119-296A= (n.6119-296A=) c.6044-296A= (n.6044-296A=) c.5744-296A= (n.5744-296A=) c.3008-296A= (n.3008-296A=) c.1901-296A= (n.1901-296A=) c.5927-296A= (n.5927-296A=) c.1679-296A= (n.1679-296A=) c.4907-296A= (n.4907-296A=) n.6083-296A= | |
8 | g.99699229A>G | CA1117103691 | VPS13B | c.6122-296A>G (n.6122-296A>G) n.6192-296A>G c.*1804-296A>G (n.*1804-296A>G) c.6047-296A>G (n.6047-296A>G) c.6119-296A>G (n.6119-296A>G) c.6044-296A>G (n.6044-296A>G) c.5744-296A>G (n.5744-296A>G) c.3008-296A>G (n.3008-296A>G) c.1901-296A>G (n.1901-296A>G) c.5927-296A>G (n.5927-296A>G) c.1679-296A>G (n.1679-296A>G) c.4907-296A>G (n.4907-296A>G) n.6083-296A>G | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699230G>A | CA583878345 | VPS13B | c.6122-295G>A (n.6122-295G>A) n.6192-295G>A c.*1804-295G>A (n.*1804-295G>A) c.6047-295G>A (n.6047-295G>A) c.6119-295G>A (n.6119-295G>A) c.6044-295G>A (n.6044-295G>A) c.5744-295G>A (n.5744-295G>A) c.3008-295G>A (n.3008-295G>A) c.1901-295G>A (n.1901-295G>A) c.5927-295G>A (n.5927-295G>A) c.1679-295G>A (n.1679-295G>A) c.4907-295G>A (n.4907-295G>A) n.6083-295G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699230G= | CA1805814394 | VPS13B | c.6122-295G= (n.6122-295G=) n.6192-295G= c.*1804-295G= (n.*1804-295G=) c.6047-295G= (n.6047-295G=) c.6119-295G= (n.6119-295G=) c.6044-295G= (n.6044-295G=) c.5744-295G= (n.5744-295G=) c.3008-295G= (n.3008-295G=) c.1901-295G= (n.1901-295G=) c.5927-295G= (n.5927-295G=) c.1679-295G= (n.1679-295G=) c.4907-295G= (n.4907-295G=) n.6083-295G= | |
8 | g.99699236A= | CA1805814397 | VPS13B | c.6122-289A= (n.6122-289A=) n.6192-289A= c.*1804-289A= (n.*1804-289A=) c.6047-289A= (n.6047-289A=) c.6119-289A= (n.6119-289A=) c.6044-289A= (n.6044-289A=) c.5744-289A= (n.5744-289A=) c.3008-289A= (n.3008-289A=) c.1901-289A= (n.1901-289A=) c.5927-289A= (n.5927-289A=) c.1679-289A= (n.1679-289A=) c.4907-289A= (n.4907-289A=) n.6083-289A= | |
8 | g.99699236A>G | CA183025202 | VPS13B | c.6122-289A>G (n.6122-289A>G) n.6192-289A>G c.*1804-289A>G (n.*1804-289A>G) c.6047-289A>G (n.6047-289A>G) c.6119-289A>G (n.6119-289A>G) c.6044-289A>G (n.6044-289A>G) c.5744-289A>G (n.5744-289A>G) c.3008-289A>G (n.3008-289A>G) c.1901-289A>G (n.1901-289A>G) c.5927-289A>G (n.5927-289A>G) c.1679-289A>G (n.1679-289A>G) c.4907-289A>G (n.4907-289A>G) n.6083-289A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699237T>C | CA183025204 | VPS13B | c.6122-288T>C (n.6122-288T>C) n.6192-288T>C c.*1804-288T>C (n.*1804-288T>C) c.6047-288T>C (n.6047-288T>C) c.6119-288T>C (n.6119-288T>C) c.6044-288T>C (n.6044-288T>C) c.5744-288T>C (n.5744-288T>C) c.3008-288T>C (n.3008-288T>C) c.1901-288T>C (n.1901-288T>C) c.5927-288T>C (n.5927-288T>C) c.1679-288T>C (n.1679-288T>C) c.4907-288T>C (n.4907-288T>C) n.6083-288T>C | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699237T>G | CA1805814408 | VPS13B | c.6122-288T>G (n.6122-288T>G) n.6192-288T>G c.*1804-288T>G (n.*1804-288T>G) c.6047-288T>G (n.6047-288T>G) c.6119-288T>G (n.6119-288T>G) c.6044-288T>G (n.6044-288T>G) c.5744-288T>G (n.5744-288T>G) c.3008-288T>G (n.3008-288T>G) c.1901-288T>G (n.1901-288T>G) c.5927-288T>G (n.5927-288T>G) c.1679-288T>G (n.1679-288T>G) c.4907-288T>G (n.4907-288T>G) n.6083-288T>G | dbSNP |
8 | g.99699237T= | CA1805814402 | VPS13B | c.6122-288T= (n.6122-288T=) n.6192-288T= c.*1804-288T= (n.*1804-288T=) c.6047-288T= (n.6047-288T=) c.6119-288T= (n.6119-288T=) c.6044-288T= (n.6044-288T=) c.5744-288T= (n.5744-288T=) c.3008-288T= (n.3008-288T=) c.1901-288T= (n.1901-288T=) c.5927-288T= (n.5927-288T=) c.1679-288T= (n.1679-288T=) c.4907-288T= (n.4907-288T=) n.6083-288T= | |
8 | g.99699242A= | CA1805814412 | VPS13B | c.6122-283A= (n.6122-283A=) n.6192-283A= c.*1804-283A= (n.*1804-283A=) c.6047-283A= (n.6047-283A=) c.6119-283A= (n.6119-283A=) c.6044-283A= (n.6044-283A=) c.5744-283A= (n.5744-283A=) c.3008-283A= (n.3008-283A=) c.1901-283A= (n.1901-283A=) c.5927-283A= (n.5927-283A=) c.1679-283A= (n.1679-283A=) c.4907-283A= (n.4907-283A=) n.6083-283A= | |
8 | g.99699242A>T | CA1805814411 | VPS13B | c.6122-283A>T (n.6122-283A>T) n.6192-283A>T c.*1804-283A>T (n.*1804-283A>T) c.6047-283A>T (n.6047-283A>T) c.6119-283A>T (n.6119-283A>T) c.6044-283A>T (n.6044-283A>T) c.5744-283A>T (n.5744-283A>T) c.3008-283A>T (n.3008-283A>T) c.1901-283A>T (n.1901-283A>T) c.5927-283A>T (n.5927-283A>T) c.1679-283A>T (n.1679-283A>T) c.4907-283A>T (n.4907-283A>T) n.6083-283A>T | dbSNP |
8 | g.99699243G>C | CA1117103700 | VPS13B | c.6122-282G>C (n.6122-282G>C) n.6192-282G>C c.*1804-282G>C (n.*1804-282G>C) c.6047-282G>C (n.6047-282G>C) c.6119-282G>C (n.6119-282G>C) c.6044-282G>C (n.6044-282G>C) c.5744-282G>C (n.5744-282G>C) c.3008-282G>C (n.3008-282G>C) c.1901-282G>C (n.1901-282G>C) c.5927-282G>C (n.5927-282G>C) c.1679-282G>C (n.1679-282G>C) c.4907-282G>C (n.4907-282G>C) n.6083-282G>C | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699243G= | CA1805814414 | VPS13B | c.6122-282G= (n.6122-282G=) n.6192-282G= c.*1804-282G= (n.*1804-282G=) c.6047-282G= (n.6047-282G=) c.6119-282G= (n.6119-282G=) c.6044-282G= (n.6044-282G=) c.5744-282G= (n.5744-282G=) c.3008-282G= (n.3008-282G=) c.1901-282G= (n.1901-282G=) c.5927-282G= (n.5927-282G=) c.1679-282G= (n.1679-282G=) c.4907-282G= (n.4907-282G=) n.6083-282G= |