Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.54937811_54942169dup | CA407860473 | NLRP7 | c.-39-386_2129+266dup c.-39-386_2045+266dup c.46-386_2213+266dup n.480-386_2647+266dup | ClinVar |
19 | g.54937921_54937922insAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAA | CA2587197971 | NCR1,NLRP7 | c.2129+144_2129+145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.2129+144_2129+145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.2045+144_2045+145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.2045+144_2045+145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.2213+144_2213+145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.2213+144_2213+145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.683-215_683-214insAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAA (n.683-215_683-214insAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAA) n.2647+144_2647+145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG | gnomAD v4 |
19 | g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA997219961 | NCR1,NLRP7 | c.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.2647+143_2647+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.54937921_54937922insAAAAACAAAAAAAAAAAAAAAAAAAAAA | CA997219868 | NCR1,NLRP7 | c.2129+143_2129+144insTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2129+143_2129+144insTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2045+143_2045+144insTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2045+143_2045+144insTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2213+143_2213+144insTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2213+143_2213+144insTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.683-215_683-214insAAAAACAAAAAAAAAAAAAAAAAAAAAA (n.683-215_683-214insAAAAACAAAAAAAAAAAAAAAAAAAAAA) n.2647+143_2647+144insTGTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA997220017 | NCR1,NLRP7 | c.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.2647+143_2647+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA997219851 | NCR1,NLRP7 | c.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.2647+143_2647+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA997220025 | NCR1,NLRP7 | c.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.2647+143_2647+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2582272714 | NCR1,NLRP7 | c.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.2647+143_2647+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.54937921_54937922insAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA | CA997219894 | NCR1,NLRP7 | c.2129+143_2129+144insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2129+143_2129+144insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2045+143_2045+144insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2045+143_2045+144insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2213+143_2213+144insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2213+143_2213+144insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.683-215_683-214insAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA (n.683-215_683-214insAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA) n.2647+143_2647+144insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA997220038 | NCR1,NLRP7 | c.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.2647+143_2647+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.54937921_54937922insAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA997219902 | NCR1,NLRP7 | c.2129+143_2129+144insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT (n.2129+143_2129+144insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT) c.2045+143_2045+144insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT (n.2045+143_2045+144insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT) c.2213+143_2213+144insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT (n.2213+143_2213+144insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT) c.683-215_683-214insAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.683-215_683-214insAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.2647+143_2647+144insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA997220043 | NCR1,NLRP7 | c.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.2647+143_2647+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA997220044 | NCR1,NLRP7 | c.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.2647+143_2647+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.54937921_54937922insAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA | CA997219866 | NCR1,NLRP7 | c.2129+143_2129+144insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2129+143_2129+144insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2045+143_2045+144insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2045+143_2045+144insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2213+143_2213+144insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2213+143_2213+144insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.683-215_683-214insAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA (n.683-215_683-214insAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA) n.2647+143_2647+144insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.54937921_54937922insAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA997219900 | NCR1,NLRP7 | c.2129+143_2129+144insTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT (n.2129+143_2129+144insTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT) c.2045+143_2045+144insTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT (n.2045+143_2045+144insTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT) c.2213+143_2213+144insTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT (n.2213+143_2213+144insTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT) c.683-215_683-214insAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.683-215_683-214insAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.2647+143_2647+144insTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA997219935 | NCR1,NLRP7 | c.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.2647+143_2647+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA997220048 | NCR1,NLRP7 | c.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.2647+143_2647+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA997219848 | NCR1,NLRP7 | c.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.2647+143_2647+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.54937921_54937922insAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA997219899 | NCR1,NLRP7 | c.2129+143_2129+144insTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2129+143_2129+144insTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2045+143_2045+144insTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2045+143_2045+144insTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2213+143_2213+144insTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2213+143_2213+144insTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.683-215_683-214insAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.683-215_683-214insAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.2647+143_2647+144insTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.54937921_54937922insAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2582272713 | NCR1,NLRP7 | c.2129+143_2129+144insTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT (n.2129+143_2129+144insTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT) c.2045+143_2045+144insTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT (n.2045+143_2045+144insTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT) c.2213+143_2213+144insTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT (n.2213+143_2213+144insTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT) c.683-215_683-214insAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.683-215_683-214insAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.2647+143_2647+144insTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA997219853 | NCR1,NLRP7 | c.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.2647+143_2647+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA997219855 | NCR1,NLRP7 | c.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.2647+143_2647+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA997219857 | NCR1,NLRP7 | c.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.2647+143_2647+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA997219860 | NCR1,NLRP7 | c.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.2647+143_2647+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA997219865 | NCR1,NLRP7 | c.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2129+143_2129+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2045+143_2045+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2213+143_2213+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.683-215_683-214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.2647+143_2647+144insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | |
19 | g.54937921dup | CA310015596 | NCR1,NLRP7 | c.2129+143dup (n.2129+143dup) c.2045+143dup (n.2045+143dup) c.2213+143dup (n.2213+143dup) c.683-215dup (n.683-215dup) n.2647+143dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937920_54937921dup | CA310015590 | NCR1,NLRP7 | c.2129+142_2129+143dup (n.2129+142_2129+143dup) c.2045+142_2045+143dup (n.2045+142_2045+143dup) c.2213+142_2213+143dup (n.2213+142_2213+143dup) c.683-216_683-215dup (n.683-216_683-215dup) n.2647+142_2647+143dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937919_54937921dup | CA310015617 | NCR1,NLRP7 | c.2129+141_2129+143dup (n.2129+141_2129+143dup) c.2045+141_2045+143dup (n.2045+141_2045+143dup) c.2213+141_2213+143dup (n.2213+141_2213+143dup) c.683-217_683-215dup (n.683-217_683-215dup) n.2647+141_2647+143dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937918_54937921dup | CA883689993 | NCR1,NLRP7 | c.2129+140_2129+143dup (n.2129+140_2129+143dup) c.2045+140_2045+143dup (n.2045+140_2045+143dup) c.2213+140_2213+143dup (n.2213+140_2213+143dup) c.683-218_683-215dup (n.683-218_683-215dup) n.2647+140_2647+143dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937917_54937921dup | CA883689967 | NCR1,NLRP7 | c.2129+139_2129+143dup (n.2129+139_2129+143dup) c.2045+139_2045+143dup (n.2045+139_2045+143dup) c.2213+139_2213+143dup (n.2213+139_2213+143dup) c.683-219_683-215dup (n.683-219_683-215dup) n.2647+139_2647+143dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937916_54937921dup | CA883689975 | NCR1,NLRP7 | c.2129+138_2129+143dup (n.2129+138_2129+143dup) c.2045+138_2045+143dup (n.2045+138_2045+143dup) c.2213+138_2213+143dup (n.2213+138_2213+143dup) c.683-220_683-215dup (n.683-220_683-215dup) n.2647+138_2647+143dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937915_54937921dup | CA997219947 | NCR1,NLRP7 | c.2129+137_2129+143dup (n.2129+137_2129+143dup) c.2045+137_2045+143dup (n.2045+137_2045+143dup) c.2213+137_2213+143dup (n.2213+137_2213+143dup) c.683-221_683-215dup (n.683-221_683-215dup) n.2647+137_2647+143dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937914_54937921dup | CA997219951 | NCR1,NLRP7 | c.2129+136_2129+143dup (n.2129+136_2129+143dup) c.2045+136_2045+143dup (n.2045+136_2045+143dup) c.2213+136_2213+143dup (n.2213+136_2213+143dup) c.683-222_683-215dup (n.683-222_683-215dup) n.2647+136_2647+143dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937913_54937921dup | CA997219952 | NCR1,NLRP7 | c.2129+135_2129+143dup (n.2129+135_2129+143dup) c.2045+135_2045+143dup (n.2045+135_2045+143dup) c.2213+135_2213+143dup (n.2213+135_2213+143dup) c.683-223_683-215dup (n.683-223_683-215dup) n.2647+135_2647+143dup | gnomAD v3 gnomAD v4 |
19 | g.54937912_54937921dup | CA997219953 | NCR1,NLRP7 | c.2129+134_2129+143dup (n.2129+134_2129+143dup) c.2045+134_2045+143dup (n.2045+134_2045+143dup) c.2213+134_2213+143dup (n.2213+134_2213+143dup) c.683-224_683-215dup (n.683-224_683-215dup) n.2647+134_2647+143dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937911_54937921dup | CA997219954 | NCR1,NLRP7 | c.2129+133_2129+143dup (n.2129+133_2129+143dup) c.2045+133_2045+143dup (n.2045+133_2045+143dup) c.2213+133_2213+143dup (n.2213+133_2213+143dup) c.683-225_683-215dup (n.683-225_683-215dup) n.2647+133_2647+143dup | gnomAD v3 gnomAD v4 |
19 | g.54937910_54937921dup | CA997219955 | NCR1,NLRP7 | c.2129+132_2129+143dup (n.2129+132_2129+143dup) c.2045+132_2045+143dup (n.2045+132_2045+143dup) c.2213+132_2213+143dup (n.2213+132_2213+143dup) c.683-226_683-215dup (n.683-226_683-215dup) n.2647+132_2647+143dup | gnomAD v3 gnomAD v4 |
19 | g.54937909_54937921dup | CA997219957 | NCR1,NLRP7 | c.2129+131_2129+143dup (n.2129+131_2129+143dup) c.2045+131_2045+143dup (n.2045+131_2045+143dup) c.2213+131_2213+143dup (n.2213+131_2213+143dup) c.683-227_683-215dup (n.683-227_683-215dup) n.2647+131_2647+143dup | gnomAD v3 gnomAD v4 |
19 | g.54937908_54937921dup | CA997219959 | NCR1,NLRP7 | c.2129+130_2129+143dup (n.2129+130_2129+143dup) c.2045+130_2045+143dup (n.2045+130_2045+143dup) c.2213+130_2213+143dup (n.2213+130_2213+143dup) c.683-228_683-215dup (n.683-228_683-215dup) n.2647+130_2647+143dup | gnomAD v3 gnomAD v4 |
19 | g.54937907_54937921dup | CA997219960 | NCR1,NLRP7 | c.2129+129_2129+143dup (n.2129+129_2129+143dup) c.2045+129_2045+143dup (n.2045+129_2045+143dup) c.2213+129_2213+143dup (n.2213+129_2213+143dup) c.683-229_683-215dup (n.683-229_683-215dup) n.2647+129_2647+143dup | gnomAD v3 gnomAD v4 |
19 | g.54937906_54937921dup | CA2814873225 | NCR1,NLRP7 | c.2129+128_2129+143dup (n.2129+128_2129+143dup) c.2045+128_2045+143dup (n.2045+128_2045+143dup) c.2213+128_2213+143dup (n.2213+128_2213+143dup) c.683-230_683-215dup (n.683-230_683-215dup) n.2647+128_2647+143dup | |
19 | g.54937903_54937921dup | CA2814873222 | NCR1,NLRP7 | c.2129+125_2129+143dup (n.2129+125_2129+143dup) c.2045+125_2045+143dup (n.2045+125_2045+143dup) c.2213+125_2213+143dup (n.2213+125_2213+143dup) c.683-233_683-215dup (n.683-233_683-215dup) n.2647+125_2647+143dup | |
19 | g.54937902_54937921dup | CA2814873223 | NCR1,NLRP7 | c.2129+124_2129+143dup (n.2129+124_2129+143dup) c.2045+124_2045+143dup (n.2045+124_2045+143dup) c.2213+124_2213+143dup (n.2213+124_2213+143dup) c.683-234_683-215dup (n.683-234_683-215dup) n.2647+124_2647+143dup | |
19 | g.54937901_54937921dup | CA2814873224 | NCR1,NLRP7 | c.2129+123_2129+143dup (n.2129+123_2129+143dup) c.2045+123_2045+143dup (n.2045+123_2045+143dup) c.2213+123_2213+143dup (n.2213+123_2213+143dup) c.683-235_683-215dup (n.683-235_683-215dup) n.2647+123_2647+143dup | |
19 | g.54937921del | CA883689994 | NCR1,NLRP7 | c.2129+143del (n.2129+143del) c.2045+143del (n.2045+143del) c.2213+143del (n.2213+143del) c.683-215del (n.683-215del) n.2647+143del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937920_54937921del | CA920139776 | NCR1,NLRP7 | c.2129+142_2129+143del (n.2129+142_2129+143del) c.2045+142_2045+143del (n.2045+142_2045+143del) c.2213+142_2213+143del (n.2213+142_2213+143del) c.683-216_683-215del (n.683-216_683-215del) n.2647+142_2647+143del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937919_54937921del | CA883689977 | NCR1,NLRP7 | c.2129+141_2129+143del (n.2129+141_2129+143del) c.2045+141_2045+143del (n.2045+141_2045+143del) c.2213+141_2213+143del (n.2213+141_2213+143del) c.683-217_683-215del (n.683-217_683-215del) n.2647+141_2647+143del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937918_54937921del | CA883689978 | NCR1,NLRP7 | c.2129+140_2129+143del (n.2129+140_2129+143del) c.2045+140_2045+143del (n.2045+140_2045+143del) c.2213+140_2213+143del (n.2213+140_2213+143del) c.683-218_683-215del (n.683-218_683-215del) n.2647+140_2647+143del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937917_54937921del | CA997219924 | NCR1,NLRP7 | c.2129+139_2129+143del (n.2129+139_2129+143del) c.2045+139_2045+143del (n.2045+139_2045+143del) c.2213+139_2213+143del (n.2213+139_2213+143del) c.683-219_683-215del (n.683-219_683-215del) n.2647+139_2647+143del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937916_54937921del | CA997219927 | NCR1,NLRP7 | c.2129+138_2129+143del (n.2129+138_2129+143del) c.2045+138_2045+143del (n.2045+138_2045+143del) c.2213+138_2213+143del (n.2213+138_2213+143del) c.683-220_683-215del (n.683-220_683-215del) n.2647+138_2647+143del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937915_54937921del | CA997219932 | NCR1,NLRP7 | c.2129+137_2129+143del (n.2129+137_2129+143del) c.2045+137_2045+143del (n.2045+137_2045+143del) c.2213+137_2213+143del (n.2213+137_2213+143del) c.683-221_683-215del (n.683-221_683-215del) n.2647+137_2647+143del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937914_54937921del | CA2569421907 | NCR1,NLRP7 | c.2129+136_2129+143del (n.2129+136_2129+143del) c.2045+136_2045+143del (n.2045+136_2045+143del) c.2213+136_2213+143del (n.2213+136_2213+143del) c.683-222_683-215del (n.683-222_683-215del) n.2647+136_2647+143del | gnomAD v4 |
19 | g.54937913_54937921del | CA883689984 | NCR1,NLRP7 | c.2129+135_2129+143del (n.2129+135_2129+143del) c.2045+135_2045+143del (n.2045+135_2045+143del) c.2213+135_2213+143del (n.2213+135_2213+143del) c.683-223_683-215del (n.683-223_683-215del) n.2647+135_2647+143del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937912_54937921del | CA310015602 | NCR1,NLRP7 | c.2129+134_2129+143del (n.2129+134_2129+143del) c.2045+134_2045+143del (n.2045+134_2045+143del) c.2213+134_2213+143del (n.2213+134_2213+143del) c.683-224_683-215del (n.683-224_683-215del) n.2647+134_2647+143del | dbSNP gnomAD v4 |
19 | g.54937910_54937921del | CA310015622 | NCR1,NLRP7 | c.2129+132_2129+143del (n.2129+132_2129+143del) c.2045+132_2045+143del (n.2045+132_2045+143del) c.2213+132_2213+143del (n.2213+132_2213+143del) c.683-226_683-215del (n.683-226_683-215del) n.2647+132_2647+143del | dbSNP |
19 | g.54937914_54937915insGAAA | CA2343150075 | NCR1,NLRP7 | c.2129+132_2129+133insCTTT (n.2129+132_2129+133insCTTT) c.2045+132_2045+133insCTTT (n.2045+132_2045+133insCTTT) c.2213+132_2213+133insCTTT (n.2213+132_2213+133insCTTT) c.683-222_683-221insGAAA (n.683-222_683-221insGAAA) n.2647+132_2647+133insCTTT | dbSNP |
19 | g.54937914A= | CA2343150078 | NCR1,NLRP7 | c.2129+130T= (n.2129+130T=) c.2045+130T= (n.2045+130T=) c.2213+130T= (n.2213+130T=) c.683-222A= (n.683-222A=) n.2647+130T= | |
19 | g.54937914A>G | CA2587197976 | NCR1,NLRP7 | c.2129+130T>C (n.2129+130T>C) c.2045+130T>C (n.2045+130T>C) c.2213+130T>C (n.2213+130T>C) c.683-222A>G (n.683-222A>G) n.2647+130T>C | gnomAD v4 |
19 | g.54937916_54937917insGAAA | CA2587197975 | NCR1,NLRP7 | c.2129+130_2129+131insCTTT (n.2129+130_2129+131insCTTT) c.2045+130_2045+131insCTTT (n.2045+130_2045+131insCTTT) c.2213+130_2213+131insCTTT (n.2213+130_2213+131insCTTT) c.683-220_683-219insGAAA (n.683-220_683-219insGAAA) n.2647+130_2647+131insCTTT | gnomAD v4 |
19 | g.54937914_54937915insG | CA883690010 | NCR1,NLRP7 | c.2129+129_2129+130insC (n.2129+129_2129+130insC) c.2045+129_2045+130insC (n.2045+129_2045+130insC) c.2213+129_2213+130insC (n.2213+129_2213+130insC) c.683-222_683-221insG (n.683-222_683-221insG) n.2647+129_2647+130insC | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937914_54937915insT | CA2587197978 | NCR1,NLRP7 | c.2129+129_2129+130insA (n.2129+129_2129+130insA) c.2045+129_2045+130insA (n.2045+129_2045+130insA) c.2213+129_2213+130insA (n.2213+129_2213+130insA) c.683-222_683-221insT (n.683-222_683-221insT) n.2647+129_2647+130insA | gnomAD v4 |
19 | g.54937915A>T | CA2587197977 | NCR1,NLRP7 | c.2129+129T>A (n.2129+129T>A) c.2045+129T>A (n.2045+129T>A) c.2213+129T>A (n.2213+129T>A) c.683-221A>T (n.683-221A>T) n.2647+129T>A | gnomAD v4 |
19 | g.54937915_54937916insGA | CA2587197979 | NCR1,NLRP7 | c.2129+129_2129+130insCT (n.2129+129_2129+130insCT) c.2045+129_2045+130insCT (n.2045+129_2045+130insCT) c.2213+129_2213+130insCT (n.2213+129_2213+130insCT) c.683-221_683-220insGA (n.683-221_683-220insGA) n.2647+129_2647+130insCT | gnomAD v4 |
19 | g.54937916A>T | CA2587197981 | NCR1,NLRP7 | c.2129+128T>A (n.2129+128T>A) c.2045+128T>A (n.2045+128T>A) c.2213+128T>A (n.2213+128T>A) c.683-220A>T (n.683-220A>T) n.2647+128T>A | gnomAD v4 |
19 | g.54937918_54937919insGAAA | CA2587197980 | NCR1,NLRP7 | c.2129+128_2129+129insCTTT (n.2129+128_2129+129insCTTT) c.2045+128_2045+129insCTTT (n.2045+128_2045+129insCTTT) c.2213+128_2213+129insCTTT (n.2213+128_2213+129insCTTT) c.683-218_683-217insGAAA (n.683-218_683-217insGAAA) n.2647+128_2647+129insCTTT | gnomAD v4 |
19 | g.54937918_54937923del | CA2814873235 | NCR1,NLRP7 | c.2129+122_2129+127del (n.2129+122_2129+127del) c.2045+122_2045+127del (n.2045+122_2045+127del) c.2213+122_2213+127del (n.2213+122_2213+127del) c.683-218_683-213del (n.683-218_683-213del) n.2647+122_2647+127del | |
19 | g.54937918A= | CA2343150079 | NCR1,NLRP7 | c.2129+126T= (n.2129+126T=) c.2045+126T= (n.2045+126T=) c.2213+126T= (n.2213+126T=) c.683-218A= (n.683-218A=) n.2647+126T= | |
19 | g.54937918A>G | CA310015631 | NCR1,NLRP7 | c.2129+126T>C (n.2129+126T>C) c.2045+126T>C (n.2045+126T>C) c.2213+126T>C (n.2213+126T>C) c.683-218A>G (n.683-218A>G) n.2647+126T>C | dbSNP |
19 | g.54937919_54937923del | CA2587197982 | NCR1,NLRP7 | c.2129+122_2129+126del (n.2129+122_2129+126del) c.2045+122_2045+126del (n.2045+122_2045+126del) c.2213+122_2213+126del (n.2213+122_2213+126del) c.683-217_683-213del (n.683-217_683-213del) n.2647+122_2647+126del | gnomAD v4 |
19 | g.54937919A>G | CA2587197985 | NCR1,NLRP7 | c.2129+125T>C (n.2129+125T>C) c.2045+125T>C (n.2045+125T>C) c.2213+125T>C (n.2213+125T>C) c.683-217A>G (n.683-217A>G) n.2647+125T>C | gnomAD v4 |
19 | g.54937920_54937921insTAA | CA2587197983 | NCR1,NLRP7 | c.2129+125_2129+126insATT (n.2129+125_2129+126insATT) c.2045+125_2045+126insATT (n.2045+125_2045+126insATT) c.2213+125_2213+126insATT (n.2213+125_2213+126insATT) c.683-216_683-215insTAA (n.683-216_683-215insTAA) n.2647+125_2647+126insATT | gnomAD v4 |
19 | g.54937920_54937923del | CA2587197984 | NCR1,NLRP7 | c.2129+122_2129+125del (n.2129+122_2129+125del) c.2045+122_2045+125del (n.2045+122_2045+125del) c.2213+122_2213+125del (n.2213+122_2213+125del) c.683-216_683-213del (n.683-216_683-213del) n.2647+122_2647+125del | gnomAD v4 |
19 | g.54937920A>G | CA2587197988 | NCR1,NLRP7 | c.2129+124T>C (n.2129+124T>C) c.2045+124T>C (n.2045+124T>C) c.2213+124T>C (n.2213+124T>C) c.683-216A>G (n.683-216A>G) n.2647+124T>C | gnomAD v4 |
19 | g.54937920A>T | CA2587197989 | NCR1,NLRP7 | c.2129+124T>A (n.2129+124T>A) c.2045+124T>A (n.2045+124T>A) c.2213+124T>A (n.2213+124T>A) c.683-216A>T (n.683-216A>T) n.2647+124T>A | gnomAD v4 |
19 | g.54937920_54937921insTA | CA2587197986 | NCR1,NLRP7 | c.2129+124_2129+125insAT (n.2129+124_2129+125insAT) c.2045+124_2045+125insAT (n.2045+124_2045+125insAT) c.2213+124_2213+125insAT (n.2213+124_2213+125insAT) c.683-216_683-215insTA (n.683-216_683-215insTA) n.2647+124_2647+125insAT | gnomAD v4 |
19 | g.54937921_54937923del | CA2587197987 | NCR1,NLRP7 | c.2129+122_2129+124del (n.2129+122_2129+124del) c.2045+122_2045+124del (n.2045+122_2045+124del) c.2213+122_2213+124del (n.2213+122_2213+124del) c.683-215_683-213del (n.683-215_683-213del) n.2647+122_2647+124del | gnomAD v4 |
19 | g.54937920_54937924delinsAAGAC | CA2343150080 | NCR1,NLRP7 | c.2129+120_2129+124delinsGTCTT (n.2129+120_2129+124delinsGTCTT) c.2045+120_2045+124delinsGTCTT (n.2045+120_2045+124delinsGTCTT) c.2213+120_2213+124delinsGTCTT (n.2213+120_2213+124delinsGTCTT) c.683-216_683-212delinsAAGAC (n.683-216_683-212delinsAAGAC) n.2647+120_2647+124delinsGTCTT | |
19 | g.54937921A>G | CA2587197992 | NCR1,NLRP7 | c.2129+123T>C (n.2129+123T>C) c.2045+123T>C (n.2045+123T>C) c.2213+123T>C (n.2213+123T>C) c.683-215A>G (n.683-215A>G) n.2647+123T>C | gnomAD v4 |
19 | g.54937921A>T | CA2587197991 | NCR1,NLRP7 | c.2129+123T>A (n.2129+123T>A) c.2045+123T>A (n.2045+123T>A) c.2213+123T>A (n.2213+123T>A) c.683-215A>T (n.683-215A>T) n.2647+123T>A | gnomAD v4 |
19 | g.54937921_54937922insAAATA | CA2587197995 | NCR1,NLRP7 | c.2129+123_2129+124insATTTT (n.2129+123_2129+124insATTTT) c.2045+123_2045+124insATTTT (n.2045+123_2045+124insATTTT) c.2213+123_2213+124insATTTT (n.2213+123_2213+124insATTTT) c.683-215_683-214insAAATA (n.683-215_683-214insAAATA) n.2647+123_2647+124insATTTT | gnomAD v4 |
19 | g.54937921_54937922insAAAAAAATA | CA883690014 | NCR1,NLRP7 | c.2129+123_2129+124insATTTTTTTT (n.2129+123_2129+124insATTTTTTTT) c.2045+123_2045+124insATTTTTTTT (n.2045+123_2045+124insATTTTTTTT) c.2213+123_2213+124insATTTTTTTT (n.2213+123_2213+124insATTTTTTTT) c.683-215_683-214insAAAAAAATA (n.683-215_683-214insAAAAAAATA) n.2647+123_2647+124insATTTTTTTT | |
19 | g.54937921_54937922delinsAG | CA2343150082 | NCR1,NLRP7 | c.2129+122_2129+123delinsCT (n.2129+122_2129+123delinsCT) c.2045+122_2045+123delinsCT (n.2045+122_2045+123delinsCT) c.2213+122_2213+123delinsCT (n.2213+122_2213+123delinsCT) c.683-215_683-214delinsAG (n.683-215_683-214delinsAG) n.2647+122_2647+123delinsCT | |
19 | g.54937922_54937923del | CA2587197996 | NCR1,NLRP7 | c.2129+122_2129+123del (n.2129+122_2129+123del) c.2045+122_2045+123del (n.2045+122_2045+123del) c.2213+122_2213+123del (n.2213+122_2213+123del) c.683-214_683-213del (n.683-214_683-213del) n.2647+122_2647+123del | gnomAD v4 |
19 | g.54937921_54937924delinsAGAC | CA2343150083 | NCR1,NLRP7 | c.2129+120_2129+123delinsGTCT (n.2129+120_2129+123delinsGTCT) c.2045+120_2045+123delinsGTCT (n.2045+120_2045+123delinsGTCT) c.2213+120_2213+123delinsGTCT (n.2213+120_2213+123delinsGTCT) c.683-215_683-212delinsAGAC (n.683-215_683-212delinsAGAC) n.2647+120_2647+123delinsGTCT | |
19 | g.54937923_54937926del | CA2343150081 | NCR1,NLRP7 | c.2129+120_2129+123del (n.2129+120_2129+123del) c.2045+120_2045+123del (n.2045+120_2045+123del) c.2213+120_2213+123del (n.2213+120_2213+123del) c.683-213_683-210del (n.683-213_683-210del) n.2647+120_2647+123del | dbSNP gnomAD v4 |
19 | g.54937921_54937929del | CA2587197994 | NCR1,NLRP7 | c.2129+115_2129+123del (n.2129+115_2129+123del) c.2045+115_2045+123del (n.2045+115_2045+123del) c.2213+115_2213+123del (n.2213+115_2213+123del) c.683-215_683-207del (n.683-215_683-207del) n.2647+115_2647+123del | gnomAD v4 |
19 | g.54937922_54937931del | CA2587197993 | NCR1,NLRP7 | c.2129+114_2129+123del (n.2129+114_2129+123del) c.2045+114_2045+123del (n.2045+114_2045+123del) c.2213+114_2213+123del (n.2213+114_2213+123del) c.683-214_683-205del (n.683-214_683-205del) n.2647+114_2647+123del | gnomAD v4 |
19 | g.54937922_54937940del | CA2587197990 | NCR1,NLRP7 | c.2129+105_2129+123del (n.2129+105_2129+123del) c.2045+105_2045+123del (n.2045+105_2045+123del) c.2213+105_2213+123del (n.2213+105_2213+123del) c.683-214_683-196del (n.683-214_683-196del) n.2647+105_2647+123del | gnomAD v4 |
19 | g.54937921_54937922insC | CA2814873236 | NCR1,NLRP7 | c.2129+122_2129+123insG (n.2129+122_2129+123insG) c.2045+122_2045+123insG (n.2045+122_2045+123insG) c.2213+122_2213+123insG (n.2213+122_2213+123insG) c.683-215_683-214insC (n.683-215_683-214insC) n.2647+122_2647+123insG | |
19 | g.54937921_54937922insT | CA2587197998 | NCR1,NLRP7 | c.2129+122_2129+123insA (n.2129+122_2129+123insA) c.2045+122_2045+123insA (n.2045+122_2045+123insA) c.2213+122_2213+123insA (n.2213+122_2213+123insA) c.683-215_683-214insT (n.683-215_683-214insT) n.2647+122_2647+123insA | gnomAD v4 |
19 | g.54937921_54937922insAT | CA2587197997 | NCR1,NLRP7 | c.2129+122_2129+123insAT (n.2129+122_2129+123insAT) c.2045+122_2045+123insAT (n.2045+122_2045+123insAT) c.2213+122_2213+123insAT (n.2213+122_2213+123insAT) c.683-215_683-214insAT (n.683-215_683-214insAT) n.2647+122_2647+123insAT | gnomAD v4 |
19 | g.54937921_54937922insAAT | CA2587197999 | NCR1,NLRP7 | c.2129+122_2129+123insATT (n.2129+122_2129+123insATT) c.2045+122_2045+123insATT (n.2045+122_2045+123insATT) c.2213+122_2213+123insATT (n.2213+122_2213+123insATT) c.683-215_683-214insAAT (n.683-215_683-214insAAT) n.2647+122_2647+123insATT | gnomAD v4 |
19 | g.54937921_54937922insAAAAAAAG | CA2587198000 | NCR1,NLRP7 | c.2129+122_2129+123insCTTTTTTT (n.2129+122_2129+123insCTTTTTTT) c.2045+122_2045+123insCTTTTTTT (n.2045+122_2045+123insCTTTTTTT) c.2213+122_2213+123insCTTTTTTT (n.2213+122_2213+123insCTTTTTTT) c.683-215_683-214insAAAAAAAG (n.683-215_683-214insAAAAAAAG) n.2647+122_2647+123insCTTTTTTT | gnomAD v4 |
19 | g.54937922del | CA310015633 | NCR1,NLRP7 | c.2129+122del (n.2129+122del) c.2045+122del (n.2045+122del) c.2213+122del (n.2213+122del) c.683-214del (n.683-214del) n.2647+122del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937922G>A | CA883690018 | NCR1,NLRP7 | c.2129+122C>T (n.2129+122C>T) c.2045+122C>T (n.2045+122C>T) c.2213+122C>T (n.2213+122C>T) c.683-214G>A (n.683-214G>A) n.2647+122C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937922G>C | CA2587198003 | NCR1,NLRP7 | c.2129+122C>G (n.2129+122C>G) c.2045+122C>G (n.2045+122C>G) c.2213+122C>G (n.2213+122C>G) c.683-214G>C (n.683-214G>C) n.2647+122C>G | gnomAD v4 |
19 | g.54937922G= | CA2343150085 | NCR1,NLRP7 | c.2129+122C= (n.2129+122C=) c.2045+122C= (n.2045+122C=) c.2213+122C= (n.2213+122C=) c.683-214G= (n.683-214G=) n.2647+122C= | |
19 | g.54937922G>T | CA997220080 | NCR1,NLRP7 | c.2129+122C>A (n.2129+122C>A) c.2045+122C>A (n.2045+122C>A) c.2213+122C>A (n.2213+122C>A) c.683-214G>T (n.683-214G>T) n.2647+122C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937922_54937924del | CA2343150084 | NCR1,NLRP7 | c.2129+120_2129+122del (n.2129+120_2129+122del) c.2045+120_2045+122del (n.2045+120_2045+122del) c.2213+120_2213+122del (n.2213+120_2213+122del) c.683-214_683-212del (n.683-214_683-212del) n.2647+120_2647+122del | dbSNP gnomAD v4 |
19 | g.54937922_54937930del | CA2587198001 | NCR1,NLRP7 | c.2129+114_2129+122del (n.2129+114_2129+122del) c.2045+114_2045+122del (n.2045+114_2045+122del) c.2213+114_2213+122del (n.2213+114_2213+122del) c.683-214_683-206del (n.683-214_683-206del) n.2647+114_2647+122del | gnomAD v4 |
19 | g.54937922_54937939del | CA2587198002 | NCR1,NLRP7 | c.2129+105_2129+122del (n.2129+105_2129+122del) c.2045+105_2045+122del (n.2045+105_2045+122del) c.2213+105_2213+122del (n.2213+105_2213+122del) c.683-214_683-197del (n.683-214_683-197del) n.2647+105_2647+122del | gnomAD v4 |
19 | g.54937922_54937923insGA | CA2587198006 | NCR1,NLRP7 | c.2129+121_2129+122insTC (n.2129+121_2129+122insTC) c.2045+121_2045+122insTC (n.2045+121_2045+122insTC) c.2213+121_2213+122insTC (n.2213+121_2213+122insTC) c.683-214_683-213insGA (n.683-214_683-213insGA) n.2647+121_2647+122insTC | gnomAD v4 |
19 | g.54937922_54937923insGAAA | CA2587198012 | NCR1,NLRP7 | c.2129+121_2129+122insTTTC (n.2129+121_2129+122insTTTC) c.2045+121_2045+122insTTTC (n.2045+121_2045+122insTTTC) c.2213+121_2213+122insTTTC (n.2213+121_2213+122insTTTC) c.683-214_683-213insGAAA (n.683-214_683-213insGAAA) n.2647+121_2647+122insTTTC | gnomAD v4 |
19 | g.54937922_54937923insCTGGAAA | CA2587198011 | NCR1,NLRP7 | c.2129+121_2129+122insTTTCCAG (n.2129+121_2129+122insTTTCCAG) c.2045+121_2045+122insTTTCCAG (n.2045+121_2045+122insTTTCCAG) c.2213+121_2213+122insTTTCCAG (n.2213+121_2213+122insTTTCCAG) c.683-214_683-213insCTGGAAA (n.683-214_683-213insCTGGAAA) n.2647+121_2647+122insTTTCCAG | gnomAD v4 |
19 | g.54937922_54937923insCTGGAAAAACCCCAA | CA2587198010 | NCR1,NLRP7 | c.2129+121_2129+122insTTGGGGTTTTTCCAG (n.2129+121_2129+122insTTGGGGTTTTTCCAG) c.2045+121_2045+122insTTGGGGTTTTTCCAG (n.2045+121_2045+122insTTGGGGTTTTTCCAG) c.2213+121_2213+122insTTGGGGTTTTTCCAG (n.2213+121_2213+122insTTGGGGTTTTTCCAG) c.683-214_683-213insCTGGAAAAACCCCAA (n.683-214_683-213insCTGGAAAAACCCCAA) n.2647+121_2647+122insTTGGGGTTTTTCCAG | gnomAD v4 |
19 | g.54937922_54937923insCTGGAAAATCCCCAA | CA2587198008 | NCR1,NLRP7 | c.2129+121_2129+122insTTGGGGATTTTCCAG (n.2129+121_2129+122insTTGGGGATTTTCCAG) c.2045+121_2045+122insTTGGGGATTTTCCAG (n.2045+121_2045+122insTTGGGGATTTTCCAG) c.2213+121_2213+122insTTGGGGATTTTCCAG (n.2213+121_2213+122insTTGGGGATTTTCCAG) c.683-214_683-213insCTGGAAAATCCCCAA (n.683-214_683-213insCTGGAAAATCCCCAA) n.2647+121_2647+122insTTGGGGATTTTCCAG | gnomAD v4 |
19 | g.54937922_54937923insCTGGAAAAACCCCAAAA | CA2587198009 | NCR1,NLRP7 | c.2129+121_2129+122insTTTTGGGGTTTTTCCAG (n.2129+121_2129+122insTTTTGGGGTTTTTCCAG) c.2045+121_2045+122insTTTTGGGGTTTTTCCAG (n.2045+121_2045+122insTTTTGGGGTTTTTCCAG) c.2213+121_2213+122insTTTTGGGGTTTTTCCAG (n.2213+121_2213+122insTTTTGGGGTTTTTCCAG) c.683-214_683-213insCTGGAAAAACCCCAAAA (n.683-214_683-213insCTGGAAAAACCCCAAAA) n.2647+121_2647+122insTTTTGGGGTTTTTCCAG | gnomAD v4 |
19 | g.54937922_54937923insCTGGAAAATCCCCAAAA | CA2587198007 | NCR1,NLRP7 | c.2129+121_2129+122insTTTTGGGGATTTTCCAG (n.2129+121_2129+122insTTTTGGGGATTTTCCAG) c.2045+121_2045+122insTTTTGGGGATTTTCCAG (n.2045+121_2045+122insTTTTGGGGATTTTCCAG) c.2213+121_2213+122insTTTTGGGGATTTTCCAG (n.2213+121_2213+122insTTTTGGGGATTTTCCAG) c.683-214_683-213insCTGGAAAATCCCCAAAA (n.683-214_683-213insCTGGAAAATCCCCAAAA) n.2647+121_2647+122insTTTTGGGGATTTTCCAG | gnomAD v4 |
19 | g.54937922_54937923insCTGGAAAAACCCCAAAAAAATGGAA | CA2814873237 | NCR1,NLRP7 | c.2129+121_2129+122insTTCCATTTTTTTGGGGTTTTTCCAG (n.2129+121_2129+122insTTCCATTTTTTTGGGGTTTTTCCAG) c.2045+121_2045+122insTTCCATTTTTTTGGGGTTTTTCCAG (n.2045+121_2045+122insTTCCATTTTTTTGGGGTTTTTCCAG) c.2213+121_2213+122insTTCCATTTTTTTGGGGTTTTTCCAG (n.2213+121_2213+122insTTCCATTTTTTTGGGGTTTTTCCAG) c.683-214_683-213insCTGGAAAAACCCCAAAAAAATGGAA (n.683-214_683-213insCTGGAAAAACCCCAAAAAAATGGAA) n.2647+121_2647+122insTTCCATTTTTTTGGGGTTTTTCCAG | |
19 | g.54937923A= | CA2343150086 | NCR1,NLRP7 | c.2129+121T= (n.2129+121T=) c.2045+121T= (n.2045+121T=) c.2213+121T= (n.2213+121T=) c.683-213A= (n.683-213A=) n.2647+121T= | |
19 | g.54937923A>C | CA310015634 | NCR1,NLRP7 | c.2129+121T>G (n.2129+121T>G) c.2045+121T>G (n.2045+121T>G) c.2213+121T>G (n.2213+121T>G) c.683-213A>C (n.683-213A>C) n.2647+121T>G | dbSNP gnomAD v4 |
19 | g.54937923A>G | CA997220083 | NCR1,NLRP7 | c.2129+121T>C (n.2129+121T>C) c.2045+121T>C (n.2045+121T>C) c.2213+121T>C (n.2213+121T>C) c.683-213A>G (n.683-213A>G) n.2647+121T>C | dbSNP gnomAD v4 |
19 | g.54937923A>T | CA2587198004 | NCR1,NLRP7 | c.2129+121T>A (n.2129+121T>A) c.2045+121T>A (n.2045+121T>A) c.2213+121T>A (n.2213+121T>A) c.683-213A>T (n.683-213A>T) n.2647+121T>A | gnomAD v4 |
19 | g.54937924_54937925del | CA2587198005 | NCR1,NLRP7 | c.2129+120_2129+121del (n.2129+120_2129+121del) c.2045+120_2045+121del (n.2045+120_2045+121del) c.2213+120_2213+121del (n.2213+120_2213+121del) c.683-212_683-211del (n.683-212_683-211del) n.2647+120_2647+121del | gnomAD v4 |
19 | g.54937923_54937930delinsACAGCTGG | CA2343150087 | NCR1,NLRP7 | c.2129+114_2129+121delinsCCAGCTGT (n.2129+114_2129+121delinsCCAGCTGT) c.2045+114_2045+121delinsCCAGCTGT (n.2045+114_2045+121delinsCCAGCTGT) c.2213+114_2213+121delinsCCAGCTGT (n.2213+114_2213+121delinsCCAGCTGT) c.683-213_683-206delinsACAGCTGG (n.683-213_683-206delinsACAGCTGG) n.2647+114_2647+121delinsCCAGCTGT | |
19 | g.54937923_54937924insAAAAAAAAAAAAC | CA2814873238 | NCR1,NLRP7 | c.2129+120_2129+121insGTTTTTTTTTTTT (n.2129+120_2129+121insGTTTTTTTTTTTT) c.2045+120_2045+121insGTTTTTTTTTTTT (n.2045+120_2045+121insGTTTTTTTTTTTT) c.2213+120_2213+121insGTTTTTTTTTTTT (n.2213+120_2213+121insGTTTTTTTTTTTT) c.683-213_683-212insAAAAAAAAAAAAC (n.683-213_683-212insAAAAAAAAAAAAC) n.2647+120_2647+121insGTTTTTTTTTTTT | |
19 | g.54937923_54937924insAAAAAAAAAAAAACC | CA2587198017 | NCR1,NLRP7 | c.2129+120_2129+121insGGTTTTTTTTTTTTT (n.2129+120_2129+121insGGTTTTTTTTTTTTT) c.2045+120_2045+121insGGTTTTTTTTTTTTT (n.2045+120_2045+121insGGTTTTTTTTTTTTT) c.2213+120_2213+121insGGTTTTTTTTTTTTT (n.2213+120_2213+121insGGTTTTTTTTTTTTT) c.683-213_683-212insAAAAAAAAAAAAACC (n.683-213_683-212insAAAAAAAAAAAAACC) n.2647+120_2647+121insGGTTTTTTTTTTTTT | gnomAD v4 |
19 | g.54937923_54937924insAAAAAAAAAAAAAAACC | CA2814873239 | NCR1,NLRP7 | c.2129+120_2129+121insGGTTTTTTTTTTTTTTT (n.2129+120_2129+121insGGTTTTTTTTTTTTTTT) c.2045+120_2045+121insGGTTTTTTTTTTTTTTT (n.2045+120_2045+121insGGTTTTTTTTTTTTTTT) c.2213+120_2213+121insGGTTTTTTTTTTTTTTT (n.2213+120_2213+121insGGTTTTTTTTTTTTTTT) c.683-213_683-212insAAAAAAAAAAAAAAACC (n.683-213_683-212insAAAAAAAAAAAAAAACC) n.2647+120_2647+121insGGTTTTTTTTTTTTTTT | |
19 | g.54937923_54937924insAAAAAAAAAAAAAAAAACC | CA997220094 | NCR1,NLRP7 | c.2129+120_2129+121insGGTTTTTTTTTTTTTTTTT (n.2129+120_2129+121insGGTTTTTTTTTTTTTTTTT) c.2045+120_2045+121insGGTTTTTTTTTTTTTTTTT (n.2045+120_2045+121insGGTTTTTTTTTTTTTTTTT) c.2213+120_2213+121insGGTTTTTTTTTTTTTTTTT (n.2213+120_2213+121insGGTTTTTTTTTTTTTTTTT) c.683-213_683-212insAAAAAAAAAAAAAAAAACC (n.683-213_683-212insAAAAAAAAAAAAAAAAACC) n.2647+120_2647+121insGGTTTTTTTTTTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937924del | CA2587198016 | NCR1,NLRP7 | c.2129+120del (n.2129+120del) c.2045+120del (n.2045+120del) c.2213+120del (n.2213+120del) c.683-212del (n.683-212del) n.2647+120del | gnomAD v4 |
19 | g.54937924C>A | CA883690029 | NCR1,NLRP7 | c.2129+120G>T (n.2129+120G>T) c.2045+120G>T (n.2045+120G>T) c.2213+120G>T (n.2213+120G>T) c.683-212C>A (n.683-212C>A) n.2647+120G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937924C= | CA2343150088 | NCR1,NLRP7 | c.2129+120G= (n.2129+120G=) c.2045+120G= (n.2045+120G=) c.2213+120G= (n.2213+120G=) c.683-212C= (n.683-212C=) n.2647+120G= | |
19 | g.54937924C>G | CA2587198013 | NCR1,NLRP7 | c.2129+120G>C (n.2129+120G>C) c.2045+120G>C (n.2045+120G>C) c.2213+120G>C (n.2213+120G>C) c.683-212C>G (n.683-212C>G) n.2647+120G>C | gnomAD v4 |
19 | g.54937924C>T | CA883690031 | NCR1,NLRP7 | c.2129+120G>A (n.2129+120G>A) c.2045+120G>A (n.2045+120G>A) c.2213+120G>A (n.2213+120G>A) c.683-212C>T (n.683-212C>T) n.2647+120G>A | dbSNP gnomAD v4 |
19 | g.54937924_54937929del | CA2587198015 | NCR1,NLRP7 | c.2129+115_2129+120del (n.2129+115_2129+120del) c.2045+115_2045+120del (n.2045+115_2045+120del) c.2213+115_2213+120del (n.2213+115_2213+120del) c.683-212_683-207del (n.683-212_683-207del) n.2647+115_2647+120del | gnomAD v4 |
19 | g.54937924_54937930del | CA883690026 | NCR1,NLRP7 | c.2129+114_2129+120del (n.2129+114_2129+120del) c.2045+114_2045+120del (n.2045+114_2045+120del) c.2213+114_2213+120del (n.2213+114_2213+120del) c.683-212_683-206del (n.683-212_683-206del) n.2647+114_2647+120del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937924_54937939del | CA2587198014 | NCR1,NLRP7 | c.2129+105_2129+120del (n.2129+105_2129+120del) c.2045+105_2045+120del (n.2045+105_2045+120del) c.2213+105_2213+120del (n.2213+105_2213+120del) c.683-212_683-197del (n.683-212_683-197del) n.2647+105_2647+120del | gnomAD v4 |
19 | g.54937925A>C | CA2587198019 | NCR1,NLRP7 | c.2129+119T>G (n.2129+119T>G) c.2045+119T>G (n.2045+119T>G) c.2213+119T>G (n.2213+119T>G) c.683-211A>C (n.683-211A>C) n.2647+119T>G | gnomAD v4 |
19 | g.54937925_54937926del | CA2587198018 | NCR1,NLRP7 | c.2129+118_2129+119del (n.2129+118_2129+119del) c.2045+118_2045+119del (n.2045+118_2045+119del) c.2213+118_2213+119del (n.2213+118_2213+119del) c.683-211_683-210del (n.683-211_683-210del) n.2647+118_2647+119del | gnomAD v4 |
19 | g.54937926G>A | CA997220100 | NCR1,NLRP7 | c.2129+118C>T (n.2129+118C>T) c.2045+118C>T (n.2045+118C>T) c.2213+118C>T (n.2213+118C>T) c.683-210G>A (n.683-210G>A) n.2647+118C>T | gnomAD v3 gnomAD v4 |
19 | g.54937926G>C | CA2587198021 | NCR1,NLRP7 | c.2129+118C>G (n.2129+118C>G) c.2045+118C>G (n.2045+118C>G) c.2213+118C>G (n.2213+118C>G) c.683-210G>C (n.683-210G>C) n.2647+118C>G | gnomAD v4 |
19 | g.54937926G>T | CA2587198020 | NCR1,NLRP7 | c.2129+118C>A (n.2129+118C>A) c.2045+118C>A (n.2045+118C>A) c.2213+118C>A (n.2213+118C>A) c.683-210G>T (n.683-210G>T) n.2647+118C>A | gnomAD v4 |
19 | g.54937927_54937929del | CA2587198022 | NCR1,NLRP7 | c.2129+116_2129+118del (n.2129+116_2129+118del) c.2045+116_2045+118del (n.2045+116_2045+118del) c.2213+116_2213+118del (n.2213+116_2213+118del) c.683-209_683-207del (n.683-209_683-207del) n.2647+116_2647+118del | gnomAD v4 |
19 | g.54937926_54937930del | CA883690033 | NCR1,NLRP7 | c.2129+114_2129+118del (n.2129+114_2129+118del) c.2045+114_2045+118del (n.2045+114_2045+118del) c.2213+114_2213+118del (n.2213+114_2213+118del) c.683-210_683-206del (n.683-210_683-206del) n.2647+114_2647+118del | gnomAD v3 gnomAD v4 |
19 | g.54937927_54937930del | CA883690034 | NCR1,NLRP7 | c.2129+115_2129+118del (n.2129+115_2129+118del) c.2045+115_2045+118del (n.2045+115_2045+118del) c.2213+115_2213+118del (n.2213+115_2213+118del) c.683-209_683-206del (n.683-209_683-206del) n.2647+115_2647+118del | gnomAD v3 gnomAD v4 |
19 | g.54937927C>A | CA2587198023 | NCR1,NLRP7 | c.2129+117G>T (n.2129+117G>T) c.2045+117G>T (n.2045+117G>T) c.2213+117G>T (n.2213+117G>T) c.683-209C>A (n.683-209C>A) n.2647+117G>T | gnomAD v4 |
19 | g.54937927C>G | CA2587198025 | NCR1,NLRP7 | c.2129+117G>C (n.2129+117G>C) c.2045+117G>C (n.2045+117G>C) c.2213+117G>C (n.2213+117G>C) c.683-209C>G (n.683-209C>G) n.2647+117G>C | gnomAD v4 |
19 | g.54937927C>T | CA2587198024 | NCR1,NLRP7 | c.2129+117G>A (n.2129+117G>A) c.2045+117G>A (n.2045+117G>A) c.2213+117G>A (n.2213+117G>A) c.683-209C>T (n.683-209C>T) n.2647+117G>A | gnomAD v4 |
19 | g.54937927_54937928del | CA2814873240 | NCR1,NLRP7 | c.2129+116_2129+117del (n.2129+116_2129+117del) c.2045+116_2045+117del (n.2045+116_2045+117del) c.2213+116_2213+117del (n.2213+116_2213+117del) c.683-209_683-208del (n.683-209_683-208del) n.2647+116_2647+117del | |
19 | g.54937928T>A | CA997220107 | NCR1,NLRP7 | c.2129+116A>T (n.2129+116A>T) c.2045+116A>T (n.2045+116A>T) c.2213+116A>T (n.2213+116A>T) c.683-208T>A (n.683-208T>A) n.2647+116A>T | gnomAD v3 gnomAD v4 |
19 | g.54937928T>C | CA2587198028 | NCR1,NLRP7 | c.2129+116A>G (n.2129+116A>G) c.2045+116A>G (n.2045+116A>G) c.2213+116A>G (n.2213+116A>G) c.683-208T>C (n.683-208T>C) n.2647+116A>G | gnomAD v4 |
19 | g.54937928T>G | CA2587198027 | NCR1,NLRP7 | c.2129+116A>C (n.2129+116A>C) c.2045+116A>C (n.2045+116A>C) c.2213+116A>C (n.2213+116A>C) c.683-208T>G (n.683-208T>G) n.2647+116A>C | gnomAD v4 |
19 | g.54937928_54937930del | CA2587198026 | NCR1,NLRP7 | c.2129+114_2129+116del (n.2129+114_2129+116del) c.2045+114_2045+116del (n.2045+114_2045+116del) c.2213+114_2213+116del (n.2213+114_2213+116del) c.683-208_683-206del (n.683-208_683-206del) n.2647+114_2647+116del | gnomAD v4 |
19 | g.54937929G>A | CA997220108 | NCR1,NLRP7 | c.2129+115C>T (n.2129+115C>T) c.2045+115C>T (n.2045+115C>T) c.2213+115C>T (n.2213+115C>T) c.683-207G>A (n.683-207G>A) n.2647+115C>T | gnomAD v3 gnomAD v4 |
19 | g.54937929G>C | CA2587198029 | NCR1,NLRP7 | c.2129+115C>G (n.2129+115C>G) c.2045+115C>G (n.2045+115C>G) c.2213+115C>G (n.2213+115C>G) c.683-207G>C (n.683-207G>C) n.2647+115C>G | gnomAD v4 |
19 | g.54937929G>T | CA2587198030 | NCR1,NLRP7 | c.2129+115C>A (n.2129+115C>A) c.2045+115C>A (n.2045+115C>A) c.2213+115C>A (n.2213+115C>A) c.683-207G>T (n.683-207G>T) n.2647+115C>A | gnomAD v4 |
19 | g.54937930G>A | CA997220111 | NCR1,NLRP7 | c.2129+114C>T (n.2129+114C>T) c.2045+114C>T (n.2045+114C>T) c.2213+114C>T (n.2213+114C>T) c.683-206G>A (n.683-206G>A) n.2647+114C>T | gnomAD v3 gnomAD v4 |
19 | g.54937930G>C | CA2587198031 | NCR1,NLRP7 | c.2129+114C>G (n.2129+114C>G) c.2045+114C>G (n.2045+114C>G) c.2213+114C>G (n.2213+114C>G) c.683-206G>C (n.683-206G>C) n.2647+114C>G | gnomAD v4 |
19 | g.54937930G= | CA2343150089 | NCR1,NLRP7 | c.2129+114C= (n.2129+114C=) c.2045+114C= (n.2045+114C=) c.2213+114C= (n.2213+114C=) c.683-206G= (n.683-206G=) n.2647+114C= | |
19 | g.54937930G>T | CA2587198032 | NCR1,NLRP7 | c.2129+114C>A (n.2129+114C>A) c.2045+114C>A (n.2045+114C>A) c.2213+114C>A (n.2213+114C>A) c.683-206G>T (n.683-206G>T) n.2647+114C>A | gnomAD v4 |
19 | g.54937934_54937935insAAAAAA | CA997220126 | NCR1,NLRP7 | c.2129+113_2129+114insTTTTTT (n.2129+113_2129+114insTTTTTT) c.2045+113_2045+114insTTTTTT (n.2045+113_2045+114insTTTTTT) c.2213+113_2213+114insTTTTTT (n.2213+113_2213+114insTTTTTT) c.683-202_683-201insAAAAAA (n.683-202_683-201insAAAAAA) n.2647+113_2647+114insTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.54937934_54937935insAAAAAAAA | CA997220129 | NCR1,NLRP7 | c.2129+113_2129+114insTTTTTTTT (n.2129+113_2129+114insTTTTTTTT) c.2045+113_2045+114insTTTTTTTT (n.2045+113_2045+114insTTTTTTTT) c.2213+113_2213+114insTTTTTTTT (n.2213+113_2213+114insTTTTTTTT) c.683-202_683-201insAAAAAAAA (n.683-202_683-201insAAAAAAAA) n.2647+113_2647+114insTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.54937934_54937935insAAAAAAAAA | CA997220130 | NCR1,NLRP7 | c.2129+113_2129+114insTTTTTTTTT (n.2129+113_2129+114insTTTTTTTTT) c.2045+113_2045+114insTTTTTTTTT (n.2045+113_2045+114insTTTTTTTTT) c.2213+113_2213+114insTTTTTTTTT (n.2213+113_2213+114insTTTTTTTTT) c.683-202_683-201insAAAAAAAAA (n.683-202_683-201insAAAAAAAAA) n.2647+113_2647+114insTTTTTTTTT | |
19 | g.54937934dup | CA2343150090 | NCR1,NLRP7 | c.2129+113dup (n.2129+113dup) c.2045+113dup (n.2045+113dup) c.2213+113dup (n.2213+113dup) c.683-202dup (n.683-202dup) n.2647+113dup | dbSNP |
19 | g.54937935_54937941del | CA2587198033 | NCR1,NLRP7 | c.2129+105_2129+111del (n.2129+105_2129+111del) c.2045+105_2045+111del (n.2045+105_2045+111del) c.2213+105_2213+111del (n.2213+105_2213+111del) c.683-201_683-195del (n.683-201_683-195del) n.2647+105_2647+111del | gnomAD v4 |
19 | g.54937935T>A | CA997220133 | NCR1,NLRP7 | c.2129+109A>T (n.2129+109A>T) c.2045+109A>T (n.2045+109A>T) c.2213+109A>T (n.2213+109A>T) c.683-201T>A (n.683-201T>A) n.2647+109A>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937935T>C | CA2587198034 | NCR1,NLRP7 | c.2129+109A>G (n.2129+109A>G) c.2045+109A>G (n.2045+109A>G) c.2213+109A>G (n.2213+109A>G) c.683-201T>C (n.683-201T>C) n.2647+109A>G | gnomAD v4 |
19 | g.54937935T>G | CA2587198035 | NCR1,NLRP7 | c.2129+109A>C (n.2129+109A>C) c.2045+109A>C (n.2045+109A>C) c.2213+109A>C (n.2213+109A>C) c.683-201T>G (n.683-201T>G) n.2647+109A>C | gnomAD v4 |
19 | g.54937935T= | CA2343150091 | NCR1,NLRP7 | c.2129+109A= (n.2129+109A=) c.2045+109A= (n.2045+109A=) c.2213+109A= (n.2213+109A=) c.683-201T= (n.683-201T=) n.2647+109A= | |
19 | g.54937936C>A | CA2587198036 | NCR1,NLRP7 | c.2129+108G>T (n.2129+108G>T) c.2045+108G>T (n.2045+108G>T) c.2213+108G>T (n.2213+108G>T) c.683-200C>A (n.683-200C>A) n.2647+108G>T | gnomAD v4 |
19 | g.54937937C>A | CA2587198037 | NCR1,NLRP7 | c.2129+107G>T (n.2129+107G>T) c.2045+107G>T (n.2045+107G>T) c.2213+107G>T (n.2213+107G>T) c.683-199C>A (n.683-199C>A) n.2647+107G>T | gnomAD v4 |
19 | g.54937937C= | CA2343150092 | NCR1,NLRP7 | c.2129+107G= (n.2129+107G=) c.2045+107G= (n.2045+107G=) c.2213+107G= (n.2213+107G=) c.683-199C= (n.683-199C=) n.2647+107G= | |
19 | g.54937937C>T | CA2343150093 | NCR1,NLRP7 | c.2129+107G>A (n.2129+107G>A) c.2045+107G>A (n.2045+107G>A) c.2213+107G>A (n.2213+107G>A) c.683-199C>T (n.683-199C>T) n.2647+107G>A | dbSNP gnomAD v4 |
19 | g.54937938C>A | CA997220135 | NCR1,NLRP7 | c.2129+106G>T (n.2129+106G>T) c.2045+106G>T (n.2045+106G>T) c.2213+106G>T (n.2213+106G>T) c.683-198C>A (n.683-198C>A) n.2647+106G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937938C= | CA2343150094 | NCR1,NLRP7 | c.2129+106G= (n.2129+106G=) c.2045+106G= (n.2045+106G=) c.2213+106G= (n.2213+106G=) c.683-198C= (n.683-198C=) n.2647+106G= | |
19 | g.54937938C>T | CA2587198038 | NCR1,NLRP7 | c.2129+106G>A (n.2129+106G>A) c.2045+106G>A (n.2045+106G>A) c.2213+106G>A (n.2213+106G>A) c.683-198C>T (n.683-198C>T) n.2647+106G>A | gnomAD v4 |
19 | g.54937939C>A | CA2587198039 | NCR1,NLRP7 | c.2129+105G>T (n.2129+105G>T) c.2045+105G>T (n.2045+105G>T) c.2213+105G>T (n.2213+105G>T) c.683-197C>A (n.683-197C>A) n.2647+105G>T | gnomAD v4 |
19 | g.54937941A= | CA2343150095 | NCR1,NLRP7 | c.2129+103T= (n.2129+103T=) c.2045+103T= (n.2045+103T=) c.2213+103T= (n.2213+103T=) c.683-195A= (n.683-195A=) n.2647+103T= | |
19 | g.54937941A>G | CA2587198040 | NCR1,NLRP7 | c.2129+103T>C (n.2129+103T>C) c.2045+103T>C (n.2045+103T>C) c.2213+103T>C (n.2213+103T>C) c.683-195A>G (n.683-195A>G) n.2647+103T>C | gnomAD v4 |
19 | g.54937941A>T | CA2587198041 | NCR1,NLRP7 | c.2129+103T>A (n.2129+103T>A) c.2045+103T>A (n.2045+103T>A) c.2213+103T>A (n.2213+103T>A) c.683-195A>T (n.683-195A>T) n.2647+103T>A | gnomAD v4 |
19 | g.54937942A= | CA2343150096 | NCR1,NLRP7 | c.2129+102T= (n.2129+102T=) c.2045+102T= (n.2045+102T=) c.2213+102T= (n.2213+102T=) c.683-194A= (n.683-194A=) n.2647+102T= | |
19 | g.54937942A>C | CA2587198042 | NCR1,NLRP7 | c.2129+102T>G (n.2129+102T>G) c.2045+102T>G (n.2045+102T>G) c.2213+102T>G (n.2213+102T>G) c.683-194A>C (n.683-194A>C) n.2647+102T>G | gnomAD v4 |
19 | g.54937942A>G | CA310015643 | NCR1,NLRP7 | c.2129+102T>C (n.2129+102T>C) c.2045+102T>C (n.2045+102T>C) c.2213+102T>C (n.2213+102T>C) c.683-194A>G (n.683-194A>G) n.2647+102T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937943_54937944dup | CA310015640 | NCR1,NLRP7 | c.2129+101_2129+102dup (n.2129+101_2129+102dup) c.2045+101_2045+102dup (n.2045+101_2045+102dup) c.2213+101_2213+102dup (n.2213+101_2213+102dup) c.683-193_683-192dup (n.683-193_683-192dup) n.2647+101_2647+102dup | dbSNP |
19 | g.54937943T>A | CA997220141 | NCR1,NLRP7 | c.2129+101A>T (n.2129+101A>T) c.2045+101A>T (n.2045+101A>T) c.2213+101A>T (n.2213+101A>T) c.683-193T>A (n.683-193T>A) n.2647+101A>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937943T>C | CA2587198043 | NCR1,NLRP7 | c.2129+101A>G (n.2129+101A>G) c.2045+101A>G (n.2045+101A>G) c.2213+101A>G (n.2213+101A>G) c.683-193T>C (n.683-193T>C) n.2647+101A>G | gnomAD v4 |
19 | g.54937943T= | CA2343150097 | NCR1,NLRP7 | c.2129+101A= (n.2129+101A=) c.2045+101A= (n.2045+101A=) c.2213+101A= (n.2213+101A=) c.683-193T= (n.683-193T=) n.2647+101A= | |
19 | g.54937945C>A | CA997220146 | NCR1,NLRP7 | c.2129+99G>T (n.2129+99G>T) c.2045+99G>T (n.2045+99G>T) c.2213+99G>T (n.2213+99G>T) c.683-191C>A (n.683-191C>A) n.2647+99G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937945C>T | CA2587198044 | NCR1,NLRP7 | c.2129+99G>A (n.2129+99G>A) c.2045+99G>A (n.2045+99G>A) c.2213+99G>A (n.2213+99G>A) c.683-191C>T (n.683-191C>T) n.2647+99G>A | gnomAD v4 |
19 | g.54937946A>G | CA2587198045 | NCR1,NLRP7 | c.2129+98T>C (n.2129+98T>C) c.2045+98T>C (n.2045+98T>C) c.2213+98T>C (n.2213+98T>C) c.683-190A>G (n.683-190A>G) n.2647+98T>C | gnomAD v4 |
19 | g.54937946_54937948dup | CA2587198046 | NCR1,NLRP7 | c.2129+96_2129+98dup (n.2129+96_2129+98dup) c.2045+96_2045+98dup (n.2045+96_2045+98dup) c.2213+96_2213+98dup (n.2213+96_2213+98dup) c.683-190_683-188dup (n.683-190_683-188dup) n.2647+96_2647+98dup | gnomAD v4 |
19 | g.54937947T>A | CA997220150 | NCR1,NLRP7 | c.2129+97A>T (n.2129+97A>T) c.2045+97A>T (n.2045+97A>T) c.2213+97A>T (n.2213+97A>T) c.683-189T>A (n.683-189T>A) n.2647+97A>T | gnomAD v3 gnomAD v4 |
19 | g.54937947T>C | CA2343150100 | NCR1,NLRP7 | c.2129+97A>G (n.2129+97A>G) c.2045+97A>G (n.2045+97A>G) c.2213+97A>G (n.2213+97A>G) c.683-189T>C (n.683-189T>C) n.2647+97A>G | dbSNP gnomAD v4 |
19 | g.54937947T>G | CA2587198047 | NCR1,NLRP7 | c.2129+97A>C (n.2129+97A>C) c.2045+97A>C (n.2045+97A>C) c.2213+97A>C (n.2213+97A>C) c.683-189T>G (n.683-189T>G) n.2647+97A>C | gnomAD v4 |
19 | g.54937947T= | CA2343150099 | NCR1,NLRP7 | c.2129+97A= (n.2129+97A=) c.2045+97A= (n.2045+97A=) c.2213+97A= (n.2213+97A=) c.683-189T= (n.683-189T=) n.2647+97A= | |
19 | g.54937947_54937948delinsTG | CA2343150098 | NCR1,NLRP7 | c.2129+96_2129+97delinsCA (n.2129+96_2129+97delinsCA) c.2045+96_2045+97delinsCA (n.2045+96_2045+97delinsCA) c.2213+96_2213+97delinsCA (n.2213+96_2213+97delinsCA) c.683-189_683-188delinsTG (n.683-189_683-188delinsTG) n.2647+96_2647+97delinsCA | |
19 | g.54937948G>T | CA2576889658 | NCR1,NLRP7 | c.2129+96C>A (n.2129+96C>A) c.2045+96C>A (n.2045+96C>A) c.2213+96C>A (n.2213+96C>A) c.683-188G>T (n.683-188G>T) n.2647+96C>A | gnomAD v4 |
19 | g.54937949del | CA883690041 | NCR1,NLRP7 | c.2129+96del (n.2129+96del) c.2045+96del (n.2045+96del) c.2213+96del (n.2213+96del) c.683-187del (n.683-187del) n.2647+96del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937949G>A | CA2587198048 | NCR1,NLRP7 | c.2129+95C>T (n.2129+95C>T) c.2045+95C>T (n.2045+95C>T) c.2213+95C>T (n.2213+95C>T) c.683-187G>A (n.683-187G>A) n.2647+95C>T | gnomAD v4 |
19 | g.54937949G>T | CA2587198049 | NCR1,NLRP7 | c.2129+95C>A (n.2129+95C>A) c.2045+95C>A (n.2045+95C>A) c.2213+95C>A (n.2213+95C>A) c.683-187G>T (n.683-187G>T) n.2647+95C>A | gnomAD v4 |
19 | g.54937950A>G | CA2576889659 | NCR1,NLRP7 | c.2129+94T>C (n.2129+94T>C) c.2045+94T>C (n.2045+94T>C) c.2213+94T>C (n.2213+94T>C) c.683-186A>G (n.683-186A>G) n.2647+94T>C | gnomAD v4 |
19 | g.54937950A>T | CA2576889660 | NCR1,NLRP7 | c.2129+94T>A (n.2129+94T>A) c.2045+94T>A (n.2045+94T>A) c.2213+94T>A (n.2213+94T>A) c.683-186A>T (n.683-186A>T) n.2647+94T>A | gnomAD v4 |
19 | g.54937951G>A | CA2576889661 | NCR1,NLRP7 | c.2129+93C>T (n.2129+93C>T) c.2045+93C>T (n.2045+93C>T) c.2213+93C>T (n.2213+93C>T) c.683-185G>A (n.683-185G>A) n.2647+93C>T | gnomAD v4 |
19 | g.54937951G>C | CA2814873241 | NCR1,NLRP7 | c.2129+93C>G (n.2129+93C>G) c.2045+93C>G (n.2045+93C>G) c.2213+93C>G (n.2213+93C>G) c.683-185G>C (n.683-185G>C) n.2647+93C>G | |
19 | g.54937951G>T | CA2587198050 | NCR1,NLRP7 | c.2129+93C>A (n.2129+93C>A) c.2045+93C>A (n.2045+93C>A) c.2213+93C>A (n.2213+93C>A) c.683-185G>T (n.683-185G>T) n.2647+93C>A | gnomAD v4 |
19 | g.54937952A>T | CA2587198051 | NCR1,NLRP7 | c.2129+92T>A (n.2129+92T>A) c.2045+92T>A (n.2045+92T>A) c.2213+92T>A (n.2213+92T>A) c.683-184A>T (n.683-184A>T) n.2647+92T>A | gnomAD v4 |
19 | g.54937953T>A | CA883690045 | NCR1,NLRP7 | c.2129+91A>T (n.2129+91A>T) c.2045+91A>T (n.2045+91A>T) c.2213+91A>T (n.2213+91A>T) c.683-183T>A (n.683-183T>A) n.2647+91A>T | dbSNP gnomAD v4 |
19 | g.54937953T= | CA2343150101 | NCR1,NLRP7 | c.2129+91A= (n.2129+91A=) c.2045+91A= (n.2045+91A=) c.2213+91A= (n.2213+91A=) c.683-183T= (n.683-183T=) n.2647+91A= | |
19 | g.54937954G>A | CA2587198052 | NCR1,NLRP7 | c.2129+90C>T (n.2129+90C>T) c.2045+90C>T (n.2045+90C>T) c.2213+90C>T (n.2213+90C>T) c.683-182G>A (n.683-182G>A) n.2647+90C>T | gnomAD v4 |
19 | g.54937954G>T | CA997220154 | NCR1,NLRP7 | c.2129+90C>A (n.2129+90C>A) c.2045+90C>A (n.2045+90C>A) c.2213+90C>A (n.2213+90C>A) c.683-182G>T (n.683-182G>T) n.2647+90C>A | gnomAD v3 gnomAD v4 |
19 | g.54937955A= | CA2343150102 | NCR1,NLRP7 | c.2129+89T= (n.2129+89T=) c.2045+89T= (n.2045+89T=) c.2213+89T= (n.2213+89T=) c.683-181A= (n.683-181A=) n.2647+89T= | |
19 | g.54937955A>T | CA883690046 | NCR1,NLRP7 | c.2129+89T>A (n.2129+89T>A) c.2045+89T>A (n.2045+89T>A) c.2213+89T>A (n.2213+89T>A) c.683-181A>T (n.683-181A>T) n.2647+89T>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937956A= | CA2343150103 | NCR1,NLRP7 | c.2129+88T= (n.2129+88T=) c.2045+88T= (n.2045+88T=) c.2213+88T= (n.2213+88T=) c.683-180A= (n.683-180A=) n.2647+88T= | |
19 | g.54937956A>G | CA2343150104 | NCR1,NLRP7 | c.2129+88T>C (n.2129+88T>C) c.2045+88T>C (n.2045+88T>C) c.2213+88T>C (n.2213+88T>C) c.683-180A>G (n.683-180A>G) n.2647+88T>C | dbSNP |
19 | g.54937957A= | CA2343150105 | NCR1,NLRP7 | c.2129+87T= (n.2129+87T=) c.2045+87T= (n.2045+87T=) c.2213+87T= (n.2213+87T=) c.683-179A= (n.683-179A=) n.2647+87T= | |
19 | g.54937957A>G | CA883690047 | NCR1,NLRP7 | c.2129+87T>C (n.2129+87T>C) c.2045+87T>C (n.2045+87T>C) c.2213+87T>C (n.2213+87T>C) c.683-179A>G (n.683-179A>G) n.2647+87T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937960_54937964del | CA2587198053 | NCR1,NLRP7 | c.2129+83_2129+87del (n.2129+83_2129+87del) c.2045+83_2045+87del (n.2045+83_2045+87del) c.2213+83_2213+87del (n.2213+83_2213+87del) c.683-176_683-172del (n.683-176_683-172del) n.2647+83_2647+87del | gnomAD v4 |
19 | g.54937958C>A | CA997220163 | NCR1,NLRP7 | c.2129+86G>T (n.2129+86G>T) c.2045+86G>T (n.2045+86G>T) c.2213+86G>T (n.2213+86G>T) c.683-178C>A (n.683-178C>A) n.2647+86G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937958C= | CA2343150106 | NCR1,NLRP7 | c.2129+86G= (n.2129+86G=) c.2045+86G= (n.2045+86G=) c.2213+86G= (n.2213+86G=) c.683-178C= (n.683-178C=) n.2647+86G= | |
19 | g.54937958C>G | CA2587198055 | NCR1,NLRP7 | c.2129+86G>C (n.2129+86G>C) c.2045+86G>C (n.2045+86G>C) c.2213+86G>C (n.2213+86G>C) c.683-178C>G (n.683-178C>G) n.2647+86G>C | gnomAD v4 |
19 | g.54937960_54937962dup | CA2587198054 | NCR1,NLRP7 | c.2129+84_2129+86dup (n.2129+84_2129+86dup) c.2045+84_2045+86dup (n.2045+84_2045+86dup) c.2213+84_2213+86dup (n.2213+84_2213+86dup) c.683-176_683-174dup (n.683-176_683-174dup) n.2647+84_2647+86dup | gnomAD v4 |
19 | g.54937959A>G | CA2576889662 | NCR1,NLRP7 | c.2129+85T>C (n.2129+85T>C) c.2045+85T>C (n.2045+85T>C) c.2213+85T>C (n.2213+85T>C) c.683-177A>G (n.683-177A>G) n.2647+85T>C | |
19 | g.54937959A>T | CA2576889663 | NCR1,NLRP7 | c.2129+85T>A (n.2129+85T>A) c.2045+85T>A (n.2045+85T>A) c.2213+85T>A (n.2213+85T>A) c.683-177A>T (n.683-177A>T) n.2647+85T>A | |
19 | g.54937960G>A | CA997220173 | NCR1,NLRP7 | c.2129+84C>T (n.2129+84C>T) c.2045+84C>T (n.2045+84C>T) c.2213+84C>T (n.2213+84C>T) c.683-176G>A (n.683-176G>A) n.2647+84C>T | gnomAD v3 gnomAD v4 |
19 | g.54937960G>C | CA2587198056 | NCR1,NLRP7 | c.2129+84C>G (n.2129+84C>G) c.2045+84C>G (n.2045+84C>G) c.2213+84C>G (n.2213+84C>G) c.683-176G>C (n.683-176G>C) n.2647+84C>G | gnomAD v4 |
19 | g.54937960G>T | CA2587198057 | NCR1,NLRP7 | c.2129+84C>A (n.2129+84C>A) c.2045+84C>A (n.2045+84C>A) c.2213+84C>A (n.2213+84C>A) c.683-176G>T (n.683-176G>T) n.2647+84C>A | gnomAD v4 |
19 | g.54937961C>A | CA2587198058 | NCR1,NLRP7 | c.2129+83G>T (n.2129+83G>T) c.2045+83G>T (n.2045+83G>T) c.2213+83G>T (n.2213+83G>T) c.683-175C>A (n.683-175C>A) n.2647+83G>T | gnomAD v4 |
19 | g.54937961C>T | CA2587198059 | NCR1,NLRP7 | c.2129+83G>A (n.2129+83G>A) c.2045+83G>A (n.2045+83G>A) c.2213+83G>A (n.2213+83G>A) c.683-175C>T (n.683-175C>T) n.2647+83G>A | gnomAD v4 |
19 | g.54937962A>G | CA2587198060 | NCR1,NLRP7 | c.2129+82T>C (n.2129+82T>C) c.2045+82T>C (n.2045+82T>C) c.2213+82T>C (n.2213+82T>C) c.683-174A>G (n.683-174A>G) n.2647+82T>C | gnomAD v4 |
19 | g.54937963C>A | CA2587198061 | NCR1,NLRP7 | c.2129+81G>T (n.2129+81G>T) c.2045+81G>T (n.2045+81G>T) c.2213+81G>T (n.2213+81G>T) c.683-173C>A (n.683-173C>A) n.2647+81G>T | gnomAD v4 |
19 | g.54937963C= | CA2343150107 | NCR1,NLRP7 | c.2129+81G= (n.2129+81G=) c.2045+81G= (n.2045+81G=) c.2213+81G= (n.2213+81G=) c.683-173C= (n.683-173C=) n.2647+81G= | |
19 | g.54937963C>T | CA997220178 | NCR1,NLRP7 | c.2129+81G>A (n.2129+81G>A) c.2045+81G>A (n.2045+81G>A) c.2213+81G>A (n.2213+81G>A) c.683-173C>T (n.683-173C>T) n.2647+81G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937964A>G | CA2576889665 | NCR1,NLRP7 | c.2129+80T>C (n.2129+80T>C) c.2045+80T>C (n.2045+80T>C) c.2213+80T>C (n.2213+80T>C) c.683-172A>G (n.683-172A>G) n.2647+80T>C | gnomAD v4 |
19 | g.54937965T>A | CA2587198063 | NCR1,NLRP7 | c.2129+79A>T (n.2129+79A>T) c.2045+79A>T (n.2045+79A>T) c.2213+79A>T (n.2213+79A>T) c.683-171T>A (n.683-171T>A) n.2647+79A>T | gnomAD v4 |
19 | g.54937965T>C | CA2587198062 | NCR1,NLRP7 | c.2129+79A>G (n.2129+79A>G) c.2045+79A>G (n.2045+79A>G) c.2213+79A>G (n.2213+79A>G) c.683-171T>C (n.683-171T>C) n.2647+79A>G | gnomAD v4 |
19 | g.54937967T>A | CA883690050 | NCR1,NLRP7 | c.2129+77A>T (n.2129+77A>T) c.2045+77A>T (n.2045+77A>T) c.2213+77A>T (n.2213+77A>T) c.683-169T>A (n.683-169T>A) n.2647+77A>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937967T= | CA2343150108 | NCR1,NLRP7 | c.2129+77A= (n.2129+77A=) c.2045+77A= (n.2045+77A=) c.2213+77A= (n.2213+77A=) c.683-169T= (n.683-169T=) n.2647+77A= | |
19 | g.54937968C>A | CA310015657 | NCR1,NLRP7 | c.2129+76G>T (n.2129+76G>T) c.2045+76G>T (n.2045+76G>T) c.2213+76G>T (n.2213+76G>T) c.683-168C>A (n.683-168C>A) n.2647+76G>T | dbSNP gnomAD v4 |
19 | g.54937968C= | CA2343150109 | NCR1,NLRP7 | c.2129+76G= (n.2129+76G=) c.2045+76G= (n.2045+76G=) c.2213+76G= (n.2213+76G=) c.683-168C= (n.683-168C=) n.2647+76G= | |
19 | g.54937969del | CA2576889667 | NCR1,NLRP7 | c.2129+76del (n.2129+76del) c.2045+76del (n.2045+76del) c.2213+76del (n.2213+76del) c.683-167del (n.683-167del) n.2647+76del | |
19 | g.54937969C>A | CA2587198064 | NCR1,NLRP7 | c.2129+75G>T (n.2129+75G>T) c.2045+75G>T (n.2045+75G>T) c.2213+75G>T (n.2213+75G>T) c.683-167C>A (n.683-167C>A) n.2647+75G>T | gnomAD v4 |
19 | g.54937970A>G | CA2587198065 | NCR1,NLRP7 | c.2129+74T>C (n.2129+74T>C) c.2045+74T>C (n.2045+74T>C) c.2213+74T>C (n.2213+74T>C) c.683-166A>G (n.683-166A>G) n.2647+74T>C | gnomAD v4 |
19 | g.54937971A>G | CA2587198066 | NCR1,NLRP7 | c.2129+73T>C (n.2129+73T>C) c.2045+73T>C (n.2045+73T>C) c.2213+73T>C (n.2213+73T>C) c.683-165A>G (n.683-165A>G) n.2647+73T>C | gnomAD v4 |
19 | g.54937971A>T | CA2587198067 | NCR1,NLRP7 | c.2129+73T>A (n.2129+73T>A) c.2045+73T>A (n.2045+73T>A) c.2213+73T>A (n.2213+73T>A) c.683-165A>T (n.683-165A>T) n.2647+73T>A | gnomAD v4 |
19 | g.54937972A>T | CA2576889668 | NCR1,NLRP7 | c.2129+72T>A (n.2129+72T>A) c.2045+72T>A (n.2045+72T>A) c.2213+72T>A (n.2213+72T>A) c.683-164A>T (n.683-164A>T) n.2647+72T>A | |
19 | g.54937973T>A | CA657374504 | NCR1,NLRP7 | c.2129+71A>T (n.2129+71A>T) c.2045+71A>T (n.2045+71A>T) c.2213+71A>T (n.2213+71A>T) c.683-163T>A (n.683-163T>A) n.2647+71A>T | COSMIC COSMIC |
19 | g.54937973T>C | CA883690056 | NCR1,NLRP7 | c.2129+71A>G (n.2129+71A>G) c.2045+71A>G (n.2045+71A>G) c.2213+71A>G (n.2213+71A>G) c.683-163T>C (n.683-163T>C) n.2647+71A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937973T= | CA2343150110 | NCR1,NLRP7 | c.2129+71A= (n.2129+71A=) c.2045+71A= (n.2045+71A=) c.2213+71A= (n.2213+71A=) c.683-163T= (n.683-163T=) n.2647+71A= | |
19 | g.54937974T>A | CA2587198068 | NCR1,NLRP7 | c.2129+70A>T (n.2129+70A>T) c.2045+70A>T (n.2045+70A>T) c.2213+70A>T (n.2213+70A>T) c.683-162T>A (n.683-162T>A) n.2647+70A>T | gnomAD v4 |
19 | g.54937975T>A | CA2587198069 | NCR1,NLRP7 | c.2129+69A>T (n.2129+69A>T) c.2045+69A>T (n.2045+69A>T) c.2213+69A>T (n.2213+69A>T) c.683-161T>A (n.683-161T>A) n.2647+69A>T | gnomAD v4 |
19 | g.54937975T>G | CA310015666 | NCR1,NLRP7 | c.2129+69A>C (n.2129+69A>C) c.2045+69A>C (n.2045+69A>C) c.2213+69A>C (n.2213+69A>C) c.683-161T>G (n.683-161T>G) n.2647+69A>C | dbSNP |
19 | g.54937975T= | CA2343150111 | NCR1,NLRP7 | c.2129+69A= (n.2129+69A=) c.2045+69A= (n.2045+69A=) c.2213+69A= (n.2213+69A=) c.683-161T= (n.683-161T=) n.2647+69A= | |
19 | g.54937976A>T | CA2576889670 | NCR1,NLRP7 | c.2129+68T>A (n.2129+68T>A) c.2045+68T>A (n.2045+68T>A) c.2213+68T>A (n.2213+68T>A) c.683-160A>T (n.683-160A>T) n.2647+68T>A | |
19 | g.54937981dup | CA883690062 | NCR1,NLRP7 | c.2129+68dup (n.2129+68dup) c.2045+68dup (n.2045+68dup) c.2213+68dup (n.2213+68dup) c.683-155dup (n.683-155dup) n.2647+68dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937981del | CA997220183 | NCR1,NLRP7 | c.2129+68del (n.2129+68del) c.2045+68del (n.2045+68del) c.2213+68del (n.2213+68del) c.683-155del (n.683-155del) n.2647+68del | gnomAD v3 gnomAD v4 |
19 | g.54937980_54937981del | CA2587198070 | NCR1,NLRP7 | c.2129+67_2129+68del (n.2129+67_2129+68del) c.2045+67_2045+68del (n.2045+67_2045+68del) c.2213+67_2213+68del (n.2213+67_2213+68del) c.683-156_683-155del (n.683-156_683-155del) n.2647+67_2647+68del | gnomAD v4 |
19 | g.54937977A>C | CA2587198072 | NCR1,NLRP7 | c.2129+67T>G (n.2129+67T>G) c.2045+67T>G (n.2045+67T>G) c.2213+67T>G (n.2213+67T>G) c.683-159A>C (n.683-159A>C) n.2647+67T>G | gnomAD v4 |
19 | g.54937977A>T | CA2587198071 | NCR1,NLRP7 | c.2129+67T>A (n.2129+67T>A) c.2045+67T>A (n.2045+67T>A) c.2213+67T>A (n.2213+67T>A) c.683-159A>T (n.683-159A>T) n.2647+67T>A | gnomAD v4 |
19 | g.54937981A>G | CA2587198073 | NCR1,NLRP7 | c.2129+63T>C (n.2129+63T>C) c.2045+63T>C (n.2045+63T>C) c.2213+63T>C (n.2213+63T>C) c.683-155A>G (n.683-155A>G) n.2647+63T>C | gnomAD v4 |
19 | g.54937982C>A | CA997220185 | NCR1,NLRP7 | c.2129+62G>T (n.2129+62G>T) c.2045+62G>T (n.2045+62G>T) c.2213+62G>T (n.2213+62G>T) c.683-154C>A (n.683-154C>A) n.2647+62G>T | gnomAD v3 gnomAD v4 |
19 | g.54937982_54937983delinsCA | CA2343150112 | NCR1,NLRP7 | c.2129+61_2129+62delinsTG (n.2129+61_2129+62delinsTG) c.2045+61_2045+62delinsTG (n.2045+61_2045+62delinsTG) c.2213+61_2213+62delinsTG (n.2213+61_2213+62delinsTG) c.683-154_683-153delinsCA (n.683-154_683-153delinsCA) n.2647+61_2647+62delinsTG | |
19 | g.54937986del | CA883690063 | NCR1,NLRP7 | c.2129+61del (n.2129+61del) c.2045+61del (n.2045+61del) c.2213+61del (n.2213+61del) c.683-150del (n.683-150del) n.2647+61del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937984A= | CA2343150113 | NCR1,NLRP7 | c.2129+60T= (n.2129+60T=) c.2045+60T= (n.2045+60T=) c.2213+60T= (n.2213+60T=) c.683-152A= (n.683-152A=) n.2647+60T= | |
19 | g.54937984A>G | CA883690065 | NCR1,NLRP7 | c.2129+60T>C (n.2129+60T>C) c.2045+60T>C (n.2045+60T>C) c.2213+60T>C (n.2213+60T>C) c.683-152A>G (n.683-152A>G) n.2647+60T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937984A>T | CA2587198074 | NCR1,NLRP7 | c.2129+60T>A (n.2129+60T>A) c.2045+60T>A (n.2045+60T>A) c.2213+60T>A (n.2213+60T>A) c.683-152A>T (n.683-152A>T) n.2647+60T>A | gnomAD v4 |
19 | g.54937987G>A | CA2587198075 | NCR1,NLRP7 | c.2129+57C>T (n.2129+57C>T) c.2045+57C>T (n.2045+57C>T) c.2213+57C>T (n.2213+57C>T) c.683-149G>A (n.683-149G>A) n.2647+57C>T | gnomAD v4 |
19 | g.54937987G>T | CA2587198076 | NCR1,NLRP7 | c.2129+57C>A (n.2129+57C>A) c.2045+57C>A (n.2045+57C>A) c.2213+57C>A (n.2213+57C>A) c.683-149G>T (n.683-149G>T) n.2647+57C>A | gnomAD v4 |
19 | g.54937988T>C | CA310015673 | NCR1,NLRP7 | c.2129+56A>G (n.2129+56A>G) c.2045+56A>G (n.2045+56A>G) c.2213+56A>G (n.2213+56A>G) c.683-148T>C (n.683-148T>C) n.2647+56A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937988T= | CA2343150114 | NCR1,NLRP7 | c.2129+56A= (n.2129+56A=) c.2045+56A= (n.2045+56A=) c.2213+56A= (n.2213+56A=) c.683-148T= (n.683-148T=) n.2647+56A= | |
19 | g.54937989A= | CA2343150115 | NCR1,NLRP7 | c.2129+55T= (n.2129+55T=) c.2045+55T= (n.2045+55T=) c.2213+55T= (n.2213+55T=) c.683-147A= (n.683-147A=) n.2647+55T= | |
19 | g.54937989A>G | CA2343150116 | NCR1,NLRP7 | c.2129+55T>C (n.2129+55T>C) c.2045+55T>C (n.2045+55T>C) c.2213+55T>C (n.2213+55T>C) c.683-147A>G (n.683-147A>G) n.2647+55T>C | dbSNP |
19 | g.54937990C>A | CA2587198077 | NCR1,NLRP7 | c.2129+54G>T (n.2129+54G>T) c.2045+54G>T (n.2045+54G>T) c.2213+54G>T (n.2213+54G>T) c.683-146C>A (n.683-146C>A) n.2647+54G>T | gnomAD v4 |
19 | g.54937991A>T | CA2587198078 | NCR1,NLRP7 | c.2129+53T>A (n.2129+53T>A) c.2045+53T>A (n.2045+53T>A) c.2213+53T>A (n.2213+53T>A) c.683-145A>T (n.683-145A>T) n.2647+53T>A | gnomAD v4 |
19 | g.54937992A= | CA2343150117 | NCR1,NLRP7 | c.2129+52T= (n.2129+52T=) c.2045+52T= (n.2045+52T=) c.2213+52T= (n.2213+52T=) c.683-144A= (n.683-144A=) n.2647+52T= | |
19 | g.54937992A>C | CA2343150118 | NCR1,NLRP7 | c.2129+52T>G (n.2129+52T>G) c.2045+52T>G (n.2045+52T>G) c.2213+52T>G (n.2213+52T>G) c.683-144A>C (n.683-144A>C) n.2647+52T>G | dbSNP |
19 | g.54937993G>A | CA2587198079 | NCR1,NLRP7 | c.2129+51C>T (n.2129+51C>T) c.2045+51C>T (n.2045+51C>T) c.2213+51C>T (n.2213+51C>T) c.683-143G>A (n.683-143G>A) n.2647+51C>T | gnomAD v4 |
19 | g.54937996G>T | CA2587198080 | NCR1,NLRP7 | c.2129+48C>A (n.2129+48C>A) c.2045+48C>A (n.2045+48C>A) c.2213+48C>A (n.2213+48C>A) c.683-140G>T (n.683-140G>T) n.2647+48C>A | gnomAD v4 |
19 | g.54937997C= | CA2343150119 | NCR1,NLRP7 | c.2129+47G= (n.2129+47G=) c.2045+47G= (n.2045+47G=) c.2213+47G= (n.2213+47G=) c.683-139C= (n.683-139C=) n.2647+47G= | |
19 | g.54937997C>T | CA2343150120 | NCR1,NLRP7 | c.2129+47G>A (n.2129+47G>A) c.2045+47G>A (n.2045+47G>A) c.2213+47G>A (n.2213+47G>A) c.683-139C>T (n.683-139C>T) n.2647+47G>A | dbSNP gnomAD v4 |
19 | g.54937998T>C | CA883690071 | NCR1,NLRP7 | c.2129+46A>G (n.2129+46A>G) c.2045+46A>G (n.2045+46A>G) c.2213+46A>G (n.2213+46A>G) c.683-138T>C (n.683-138T>C) n.2647+46A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54937998T= | CA2343150121 | NCR1,NLRP7 | c.2129+46A= (n.2129+46A=) c.2045+46A= (n.2045+46A=) c.2213+46A= (n.2213+46A=) c.683-138T= (n.683-138T=) n.2647+46A= | |
19 | g.54937999T>G | CA2736091020 | NCR1,NLRP7 | c.2129+45A>C (n.2129+45A>C) c.2045+45A>C (n.2045+45A>C) c.2213+45A>C (n.2213+45A>C) c.683-137T>G (n.683-137T>G) n.2647+45A>C | dbSNP |
19 | g.54938001G>C | CA2587198081 | NCR1,NLRP7 | c.2129+43C>G (n.2129+43C>G) c.2045+43C>G (n.2045+43C>G) c.2213+43C>G (n.2213+43C>G) c.683-135G>C (n.683-135G>C) n.2647+43C>G | gnomAD v4 |
19 | g.54938001G>T | CA2576889672 | NCR1,NLRP7 | c.2129+43C>A (n.2129+43C>A) c.2045+43C>A (n.2045+43C>A) c.2213+43C>A (n.2213+43C>A) c.683-135G>T (n.683-135G>T) n.2647+43C>A | gnomAD v4 |
19 | g.54938003C>T | CA2587198082 | NCR1,NLRP7 | c.2129+41G>A (n.2129+41G>A) c.2045+41G>A (n.2045+41G>A) c.2213+41G>A (n.2213+41G>A) c.683-133C>T (n.683-133C>T) n.2647+41G>A | gnomAD v4 |
19 | g.54938004_54938008delinsATCGT | CA2343150122 | NCR1,NLRP7 | c.2129+36_2129+40delinsACGAT (n.2129+36_2129+40delinsACGAT) c.2045+36_2045+40delinsACGAT (n.2045+36_2045+40delinsACGAT) c.2213+36_2213+40delinsACGAT (n.2213+36_2213+40delinsACGAT) c.683-132_683-128delinsATCGT (n.683-132_683-128delinsATCGT) n.2647+36_2647+40delinsACGAT | |
19 | g.54938005T>C | CA2587198083 | NCR1,NLRP7 | c.2129+39A>G (n.2129+39A>G) c.2045+39A>G (n.2045+39A>G) c.2213+39A>G (n.2213+39A>G) c.683-131T>C (n.683-131T>C) n.2647+39A>G | gnomAD v4 |
19 | g.54938007_54938010del | CA997220192 | NCR1,NLRP7 | c.2129+36_2129+39del (n.2129+36_2129+39del) c.2045+36_2045+39del (n.2045+36_2045+39del) c.2213+36_2213+39del (n.2213+36_2213+39del) c.683-129_683-126del (n.683-129_683-126del) n.2647+36_2647+39del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938006C>A | CA2581397187 | NCR1,NLRP7 | c.2129+38G>T (n.2129+38G>T) c.2045+38G>T (n.2045+38G>T) c.2213+38G>T (n.2213+38G>T) c.683-130C>A (n.683-130C>A) n.2647+38G>T | |
19 | g.54938006C= | CA2343150123 | NCR1,NLRP7 | c.2129+38G= (n.2129+38G=) c.2045+38G= (n.2045+38G=) c.2213+38G= (n.2213+38G=) c.683-130C= (n.683-130C=) n.2647+38G= | |
19 | g.54938006C>G | CA150001 | NCR1,NLRP7 | c.2129+38G>C (n.2129+38G>C) c.2045+38G>C (n.2045+38G>C) c.2213+38G>C (n.2213+38G>C) c.683-130C>G (n.683-130C>G) n.2647+38G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938006C>T | CA310015677 | NCR1,NLRP7 | c.2129+38G>A (n.2129+38G>A) c.2045+38G>A (n.2045+38G>A) c.2213+38G>A (n.2213+38G>A) c.683-130C>T (n.683-130C>T) n.2647+38G>A | dbSNP gnomAD v4 |
19 | g.54938007G>A | CA310015687 | NCR1,NLRP7 | c.2129+37C>T (n.2129+37C>T) c.2045+37C>T (n.2045+37C>T) c.2213+37C>T (n.2213+37C>T) c.683-129G>A (n.683-129G>A) n.2647+37C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938007G>C | CA310015690 | NCR1,NLRP7 | c.2129+37C>G (n.2129+37C>G) c.2045+37C>G (n.2045+37C>G) c.2213+37C>G (n.2213+37C>G) c.683-129G>C (n.683-129G>C) n.2647+37C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938007G= | CA2343150124 | NCR1,NLRP7 | c.2129+37C= (n.2129+37C=) c.2045+37C= (n.2045+37C=) c.2213+37C= (n.2213+37C=) c.683-129G= (n.683-129G=) n.2647+37C= | |
19 | g.54938007G>T | CA2587198084 | NCR1,NLRP7 | c.2129+37C>A (n.2129+37C>A) c.2045+37C>A (n.2045+37C>A) c.2213+37C>A (n.2213+37C>A) c.683-129G>T (n.683-129G>T) n.2647+37C>A | gnomAD v4 |
19 | g.54938008T>C | CA2576889674 | NCR1,NLRP7 | c.2129+36A>G (n.2129+36A>G) c.2045+36A>G (n.2045+36A>G) c.2213+36A>G (n.2213+36A>G) c.683-128T>C (n.683-128T>C) n.2647+36A>G | gnomAD v4 |
19 | g.54938008T>G | CA2587198085 | NCR1,NLRP7 | c.2129+36A>C (n.2129+36A>C) c.2045+36A>C (n.2045+36A>C) c.2213+36A>C (n.2213+36A>C) c.683-128T>G (n.683-128T>G) n.2647+36A>C | gnomAD v4 |
19 | g.54938010C>T | CA2576889675 | NCR1,NLRP7 | c.2129+34G>A (n.2129+34G>A) c.2045+34G>A (n.2045+34G>A) c.2213+34G>A (n.2213+34G>A) c.683-126C>T (n.683-126C>T) n.2647+34G>A | |
19 | g.54938011A= | CA2343150125 | NCR1,NLRP7 | c.2129+33T= (n.2129+33T=) c.2045+33T= (n.2045+33T=) c.2213+33T= (n.2213+33T=) c.683-125A= (n.683-125A=) n.2647+33T= | |
19 | g.54938011A>G | CA883690080 | NCR1,NLRP7 | c.2129+33T>C (n.2129+33T>C) c.2045+33T>C (n.2045+33T>C) c.2213+33T>C (n.2213+33T>C) c.683-125A>G (n.683-125A>G) n.2647+33T>C | dbSNP gnomAD v4 |
19 | g.54938012G>T | CA2576889676 | NCR1,NLRP7 | c.2129+32C>A (n.2129+32C>A) c.2045+32C>A (n.2045+32C>A) c.2213+32C>A (n.2213+32C>A) c.683-124G>T (n.683-124G>T) n.2647+32C>A | gnomAD v4 |
19 | g.54938013G>A | CA2587198086 | NCR1,NLRP7 | c.2129+31C>T (n.2129+31C>T) c.2045+31C>T (n.2045+31C>T) c.2213+31C>T (n.2213+31C>T) c.683-123G>A (n.683-123G>A) n.2647+31C>T | gnomAD v4 |
19 | g.54938013G>C | CA310015710 | NCR1,NLRP7 | c.2129+31C>G (n.2129+31C>G) c.2045+31C>G (n.2045+31C>G) c.2213+31C>G (n.2213+31C>G) c.683-123G>C (n.683-123G>C) n.2647+31C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938013G= | CA2343150126 | NCR1,NLRP7 | c.2129+31C= (n.2129+31C=) c.2045+31C= (n.2045+31C=) c.2213+31C= (n.2213+31C=) c.683-123G= (n.683-123G=) n.2647+31C= | |
19 | g.54938013G>T | CA310015717 | NCR1,NLRP7 | c.2129+31C>A (n.2129+31C>A) c.2045+31C>A (n.2045+31C>A) c.2213+31C>A (n.2213+31C>A) c.683-123G>T (n.683-123G>T) n.2647+31C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938014G>A | CA310015739 | NCR1,NLRP7 | c.2129+30C>T (n.2129+30C>T) c.2045+30C>T (n.2045+30C>T) c.2213+30C>T (n.2213+30C>T) c.683-122G>A (n.683-122G>A) n.2647+30C>T | dbSNP gnomAD v4 |
19 | g.54938014G= | CA2343150127 | NCR1,NLRP7 | c.2129+30C= (n.2129+30C=) c.2045+30C= (n.2045+30C=) c.2213+30C= (n.2213+30C=) c.683-122G= (n.683-122G=) n.2647+30C= | |
19 | g.54938014G>T | CA2587198087 | NCR1,NLRP7 | c.2129+30C>A (n.2129+30C>A) c.2045+30C>A (n.2045+30C>A) c.2213+30C>A (n.2213+30C>A) c.683-122G>T (n.683-122G>T) n.2647+30C>A | gnomAD v4 |