Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.54937811_54942169dupCA407860473NLRP7c.-39-386_2129+266dup
c.-39-386_2045+266dup
c.46-386_2213+266dup
n.480-386_2647+266dup
ClinVar
19g.54937921_54937922insAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAACA2587197971NCR1,NLRP7c.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
19g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAACA997219961NCR1,NLRP7c.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
19g.54937921_54937922insAAAAACAAAAAAAAAAAAAAAAAAAAAACA997219868NCR1,NLRP7c.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
19g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA997220017NCR1,NLRP7c.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
19g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA997219851NCR1,NLRP7c.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
19g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA997220025NCR1,NLRP7c.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
19g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA2582272714NCR1,NLRP7c.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
19g.54937921_54937922insAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAACA997219894NCR1,NLRP7c.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
19g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA997220038NCR1,NLRP7c.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
19g.54937921_54937922insAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA997219902NCR1,NLRP7c.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
19g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA997220043NCR1,NLRP7c.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
19g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA997220044NCR1,NLRP7c.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
19g.54937921_54937922insAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAACA997219866NCR1,NLRP7c.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
19g.54937921_54937922insAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA997219900NCR1,NLRP7c.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
19g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA997219935NCR1,NLRP7c.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
19g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA997220048NCR1,NLRP7c.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
19g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA997219848NCR1,NLRP7c.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
19g.54937921_54937922insAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA997219899NCR1,NLRP7c.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
19g.54937921_54937922insAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA2582272713NCR1,NLRP7c.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
19g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA997219853NCR1,NLRP7c.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
19g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA997219855NCR1,NLRP7c.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
19g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA997219857NCR1,NLRP7c.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
19g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA997219860NCR1,NLRP7c.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
19g.54937921_54937922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA997219865NCR1,NLRP7c.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
19g.54937921dupCA310015596NCR1,NLRP7c.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
19g.54937920_54937921dupCA310015590NCR1,NLRP7c.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
19g.54937919_54937921dupCA310015617NCR1,NLRP7c.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
19g.54937918_54937921dupCA883689993NCR1,NLRP7c.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
19g.54937917_54937921dupCA883689967NCR1,NLRP7c.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
19g.54937916_54937921dupCA883689975NCR1,NLRP7c.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
19g.54937915_54937921dupCA997219947NCR1,NLRP7c.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
19g.54937914_54937921dupCA997219951NCR1,NLRP7c.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
19g.54937913_54937921dupCA997219952NCR1,NLRP7c.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
19g.54937912_54937921dupCA997219953NCR1,NLRP7c.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
19g.54937911_54937921dupCA997219954NCR1,NLRP7c.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
19g.54937910_54937921dupCA997219955NCR1,NLRP7c.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
19g.54937909_54937921dupCA997219957NCR1,NLRP7c.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
19g.54937908_54937921dupCA997219959NCR1,NLRP7c.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
19g.54937907_54937921dupCA997219960NCR1,NLRP7c.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
19g.54937906_54937921dupCA2814873225NCR1,NLRP7c.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
19g.54937903_54937921dupCA2814873222NCR1,NLRP7c.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
19g.54937902_54937921dupCA2814873223NCR1,NLRP7c.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
19g.54937901_54937921dupCA2814873224NCR1,NLRP7c.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
19g.54937921delCA883689994NCR1,NLRP7c.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
19g.54937920_54937921delCA920139776NCR1,NLRP7c.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
19g.54937919_54937921delCA883689977NCR1,NLRP7c.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
19g.54937918_54937921delCA883689978NCR1,NLRP7c.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
19g.54937917_54937921delCA997219924NCR1,NLRP7c.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
19g.54937916_54937921delCA997219927NCR1,NLRP7c.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
19g.54937915_54937921delCA997219932NCR1,NLRP7c.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
19g.54937914_54937921delCA2569421907NCR1,NLRP7c.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
19g.54937913_54937921delCA883689984NCR1,NLRP7c.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
19g.54937912_54937921delCA310015602NCR1,NLRP7c.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
19g.54937910_54937921delCA310015622NCR1,NLRP7c.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
19g.54937914_54937915insGAAACA2343150075NCR1,NLRP7c.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
19g.54937914A=CA2343150078NCR1,NLRP7c.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=
19g.54937914A>GCA2587197976NCR1,NLRP7c.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
19g.54937916_54937917insGAAACA2587197975NCR1,NLRP7c.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
19g.54937914_54937915insGCA883690010NCR1,NLRP7c.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
19g.54937914_54937915insTCA2587197978NCR1,NLRP7c.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
19g.54937915A>TCA2587197977NCR1,NLRP7c.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
19g.54937915_54937916insGACA2587197979NCR1,NLRP7c.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
19g.54937916A>TCA2587197981NCR1,NLRP7c.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
19g.54937918_54937919insGAAACA2587197980NCR1,NLRP7c.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
19g.54937918_54937923delCA2814873235NCR1,NLRP7c.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
19g.54937918A=CA2343150079NCR1,NLRP7c.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=
19g.54937918A>GCA310015631NCR1,NLRP7c.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
19g.54937919_54937923delCA2587197982NCR1,NLRP7c.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
19g.54937919A>GCA2587197985NCR1,NLRP7c.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
19g.54937920_54937921insTAACA2587197983NCR1,NLRP7c.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
19g.54937920_54937923delCA2587197984NCR1,NLRP7c.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
19g.54937920A>GCA2587197988NCR1,NLRP7c.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
19g.54937920A>TCA2587197989NCR1,NLRP7c.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
19g.54937920_54937921insTACA2587197986NCR1,NLRP7c.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
19g.54937921_54937923delCA2587197987NCR1,NLRP7c.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
19g.54937920_54937924delinsAAGACCA2343150080NCR1,NLRP7c.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
19g.54937921A>GCA2587197992NCR1,NLRP7c.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
19g.54937921A>TCA2587197991NCR1,NLRP7c.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
19g.54937921_54937922insAAATACA2587197995NCR1,NLRP7c.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
19g.54937921_54937922insAAAAAAATACA883690014NCR1,NLRP7c.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
19g.54937921_54937922delinsAGCA2343150082NCR1,NLRP7c.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
19g.54937922_54937923delCA2587197996NCR1,NLRP7c.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
19g.54937921_54937924delinsAGACCA2343150083NCR1,NLRP7c.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
19g.54937923_54937926delCA2343150081NCR1,NLRP7c.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
19g.54937921_54937929delCA2587197994NCR1,NLRP7c.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
19g.54937922_54937931delCA2587197993NCR1,NLRP7c.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
19g.54937922_54937940delCA2587197990NCR1,NLRP7c.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
19g.54937921_54937922insCCA2814873236NCR1,NLRP7c.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
19g.54937921_54937922insTCA2587197998NCR1,NLRP7c.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
19g.54937921_54937922insATCA2587197997NCR1,NLRP7c.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
19g.54937921_54937922insAATCA2587197999NCR1,NLRP7c.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
19g.54937921_54937922insAAAAAAAGCA2587198000NCR1,NLRP7c.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
19g.54937922delCA310015633NCR1,NLRP7c.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
19g.54937922G>ACA883690018NCR1,NLRP7c.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
19g.54937922G>CCA2587198003NCR1,NLRP7c.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
19g.54937922G=CA2343150085NCR1,NLRP7c.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=
19g.54937922G>TCA997220080NCR1,NLRP7c.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
19g.54937922_54937924delCA2343150084NCR1,NLRP7c.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
19g.54937922_54937930delCA2587198001NCR1,NLRP7c.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
19g.54937922_54937939delCA2587198002NCR1,NLRP7c.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
19g.54937922_54937923insGACA2587198006NCR1,NLRP7c.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
19g.54937922_54937923insGAAACA2587198012NCR1,NLRP7c.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
19g.54937922_54937923insCTGGAAACA2587198011NCR1,NLRP7c.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
19g.54937922_54937923insCTGGAAAAACCCCAACA2587198010NCR1,NLRP7c.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
19g.54937922_54937923insCTGGAAAATCCCCAACA2587198008NCR1,NLRP7c.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
19g.54937922_54937923insCTGGAAAAACCCCAAAACA2587198009NCR1,NLRP7c.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
19g.54937922_54937923insCTGGAAAATCCCCAAAACA2587198007NCR1,NLRP7c.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
19g.54937922_54937923insCTGGAAAAACCCCAAAAAAATGGAACA2814873237NCR1,NLRP7c.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
19g.54937923A=CA2343150086NCR1,NLRP7c.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=
19g.54937923A>CCA310015634NCR1,NLRP7c.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
19g.54937923A>GCA997220083NCR1,NLRP7c.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
19g.54937923A>TCA2587198004NCR1,NLRP7c.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
19g.54937924_54937925delCA2587198005NCR1,NLRP7c.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
19g.54937923_54937930delinsACAGCTGGCA2343150087NCR1,NLRP7c.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
19g.54937923_54937924insAAAAAAAAAAAACCA2814873238NCR1,NLRP7c.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
19g.54937923_54937924insAAAAAAAAAAAAACCCA2587198017NCR1,NLRP7c.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
19g.54937923_54937924insAAAAAAAAAAAAAAACCCA2814873239NCR1,NLRP7c.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
19g.54937923_54937924insAAAAAAAAAAAAAAAAACCCA997220094NCR1,NLRP7c.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
19g.54937924delCA2587198016NCR1,NLRP7c.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
19g.54937924C>ACA883690029NCR1,NLRP7c.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
19g.54937924C=CA2343150088NCR1,NLRP7c.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=
19g.54937924C>GCA2587198013NCR1,NLRP7c.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
19g.54937924C>TCA883690031NCR1,NLRP7c.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
19g.54937924_54937929delCA2587198015NCR1,NLRP7c.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
19g.54937924_54937930delCA883690026NCR1,NLRP7c.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
19g.54937924_54937939delCA2587198014NCR1,NLRP7c.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
19g.54937925A>CCA2587198019NCR1,NLRP7c.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
19g.54937925_54937926delCA2587198018NCR1,NLRP7c.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
19g.54937926G>ACA997220100NCR1,NLRP7c.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
19g.54937926G>CCA2587198021NCR1,NLRP7c.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
19g.54937926G>TCA2587198020NCR1,NLRP7c.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
19g.54937927_54937929delCA2587198022NCR1,NLRP7c.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
19g.54937926_54937930delCA883690033NCR1,NLRP7c.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
19g.54937927_54937930delCA883690034NCR1,NLRP7c.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
19g.54937927C>ACA2587198023NCR1,NLRP7c.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
19g.54937927C>GCA2587198025NCR1,NLRP7c.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
19g.54937927C>TCA2587198024NCR1,NLRP7c.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
19g.54937927_54937928delCA2814873240NCR1,NLRP7c.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
19g.54937928T>ACA997220107NCR1,NLRP7c.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
19g.54937928T>CCA2587198028NCR1,NLRP7c.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
19g.54937928T>GCA2587198027NCR1,NLRP7c.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
19g.54937928_54937930delCA2587198026NCR1,NLRP7c.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
19g.54937929G>ACA997220108NCR1,NLRP7c.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
19g.54937929G>CCA2587198029NCR1,NLRP7c.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
19g.54937929G>TCA2587198030NCR1,NLRP7c.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
19g.54937930G>ACA997220111NCR1,NLRP7c.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
19g.54937930G>CCA2587198031NCR1,NLRP7c.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
19g.54937930G=CA2343150089NCR1,NLRP7c.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=
19g.54937930G>TCA2587198032NCR1,NLRP7c.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
19g.54937934_54937935insAAAAAACA997220126NCR1,NLRP7c.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
19g.54937934_54937935insAAAAAAAACA997220129NCR1,NLRP7c.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
19g.54937934_54937935insAAAAAAAAACA997220130NCR1,NLRP7c.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
19g.54937934dupCA2343150090NCR1,NLRP7c.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
19g.54937935_54937941delCA2587198033NCR1,NLRP7c.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
19g.54937935T>ACA997220133NCR1,NLRP7c.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
19g.54937935T>CCA2587198034NCR1,NLRP7c.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
19g.54937935T>GCA2587198035NCR1,NLRP7c.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
19g.54937935T=CA2343150091NCR1,NLRP7c.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=
19g.54937936C>ACA2587198036NCR1,NLRP7c.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
19g.54937937C>ACA2587198037NCR1,NLRP7c.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
19g.54937937C=CA2343150092NCR1,NLRP7c.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=
19g.54937937C>TCA2343150093NCR1,NLRP7c.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
19g.54937938C>ACA997220135NCR1,NLRP7c.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
19g.54937938C=CA2343150094NCR1,NLRP7c.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=
19g.54937938C>TCA2587198038NCR1,NLRP7c.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
19g.54937939C>ACA2587198039NCR1,NLRP7c.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
19g.54937941A=CA2343150095NCR1,NLRP7c.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=
19g.54937941A>GCA2587198040NCR1,NLRP7c.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
19g.54937941A>TCA2587198041NCR1,NLRP7c.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
19g.54937942A=CA2343150096NCR1,NLRP7c.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=
19g.54937942A>CCA2587198042NCR1,NLRP7c.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
19g.54937942A>GCA310015643NCR1,NLRP7c.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
19g.54937943_54937944dupCA310015640NCR1,NLRP7c.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
19g.54937943T>ACA997220141NCR1,NLRP7c.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
19g.54937943T>CCA2587198043NCR1,NLRP7c.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
19g.54937943T=CA2343150097NCR1,NLRP7c.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=
19g.54937945C>ACA997220146NCR1,NLRP7c.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
19g.54937945C>TCA2587198044NCR1,NLRP7c.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
19g.54937946A>GCA2587198045NCR1,NLRP7c.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
19g.54937946_54937948dupCA2587198046NCR1,NLRP7c.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
19g.54937947T>ACA997220150NCR1,NLRP7c.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
19g.54937947T>CCA2343150100NCR1,NLRP7c.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
19g.54937947T>GCA2587198047NCR1,NLRP7c.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
19g.54937947T=CA2343150099NCR1,NLRP7c.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=
19g.54937947_54937948delinsTGCA2343150098NCR1,NLRP7c.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
19g.54937948G>TCA2576889658NCR1,NLRP7c.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
19g.54937949delCA883690041NCR1,NLRP7c.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
19g.54937949G>ACA2587198048NCR1,NLRP7c.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
19g.54937949G>TCA2587198049NCR1,NLRP7c.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
19g.54937950A>GCA2576889659NCR1,NLRP7c.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
19g.54937950A>TCA2576889660NCR1,NLRP7c.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
19g.54937951G>ACA2576889661NCR1,NLRP7c.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
19g.54937951G>CCA2814873241NCR1,NLRP7c.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
19g.54937951G>TCA2587198050NCR1,NLRP7c.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
19g.54937952A>TCA2587198051NCR1,NLRP7c.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
19g.54937953T>ACA883690045NCR1,NLRP7c.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
19g.54937953T=CA2343150101NCR1,NLRP7c.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=
19g.54937954G>ACA2587198052NCR1,NLRP7c.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
19g.54937954G>TCA997220154NCR1,NLRP7c.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
19g.54937955A=CA2343150102NCR1,NLRP7c.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=
19g.54937955A>TCA883690046NCR1,NLRP7c.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
19g.54937956A=CA2343150103NCR1,NLRP7c.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=
19g.54937956A>GCA2343150104NCR1,NLRP7c.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
19g.54937957A=CA2343150105NCR1,NLRP7c.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=
19g.54937957A>GCA883690047NCR1,NLRP7c.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
19g.54937960_54937964delCA2587198053NCR1,NLRP7c.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
19g.54937958C>ACA997220163NCR1,NLRP7c.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
19g.54937958C=CA2343150106NCR1,NLRP7c.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=
19g.54937958C>GCA2587198055NCR1,NLRP7c.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
19g.54937960_54937962dupCA2587198054NCR1,NLRP7c.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
19g.54937959A>GCA2576889662NCR1,NLRP7c.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
19g.54937959A>TCA2576889663NCR1,NLRP7c.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
19g.54937960G>ACA997220173NCR1,NLRP7c.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
19g.54937960G>CCA2587198056NCR1,NLRP7c.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
19g.54937960G>TCA2587198057NCR1,NLRP7c.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
19g.54937961C>ACA2587198058NCR1,NLRP7c.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
19g.54937961C>TCA2587198059NCR1,NLRP7c.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
19g.54937962A>GCA2587198060NCR1,NLRP7c.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
19g.54937963C>ACA2587198061NCR1,NLRP7c.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
19g.54937963C=CA2343150107NCR1,NLRP7c.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=
19g.54937963C>TCA997220178NCR1,NLRP7c.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
19g.54937964A>GCA2576889665NCR1,NLRP7c.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
19g.54937965T>ACA2587198063NCR1,NLRP7c.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
19g.54937965T>CCA2587198062NCR1,NLRP7c.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
19g.54937967T>ACA883690050NCR1,NLRP7c.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
19g.54937967T=CA2343150108NCR1,NLRP7c.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=
19g.54937968C>ACA310015657NCR1,NLRP7c.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
19g.54937968C=CA2343150109NCR1,NLRP7c.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=
19g.54937969delCA2576889667NCR1,NLRP7c.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
19g.54937969C>ACA2587198064NCR1,NLRP7c.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
19g.54937970A>GCA2587198065NCR1,NLRP7c.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
19g.54937971A>GCA2587198066NCR1,NLRP7c.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
19g.54937971A>TCA2587198067NCR1,NLRP7c.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
19g.54937972A>TCA2576889668NCR1,NLRP7c.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
19g.54937973T>ACA657374504NCR1,NLRP7c.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
19g.54937973T>CCA883690056NCR1,NLRP7c.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
19g.54937973T=CA2343150110NCR1,NLRP7c.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=
19g.54937974T>ACA2587198068NCR1,NLRP7c.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
19g.54937975T>ACA2587198069NCR1,NLRP7c.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
19g.54937975T>GCA310015666NCR1,NLRP7c.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
19g.54937975T=CA2343150111NCR1,NLRP7c.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=
19g.54937976A>TCA2576889670NCR1,NLRP7c.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
19g.54937981dupCA883690062NCR1,NLRP7c.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
19g.54937981delCA997220183NCR1,NLRP7c.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
19g.54937980_54937981delCA2587198070NCR1,NLRP7c.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
19g.54937977A>CCA2587198072NCR1,NLRP7c.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
19g.54937977A>TCA2587198071NCR1,NLRP7c.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
19g.54937981A>GCA2587198073NCR1,NLRP7c.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
19g.54937982C>ACA997220185NCR1,NLRP7c.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
19g.54937982_54937983delinsCACA2343150112NCR1,NLRP7c.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
19g.54937986delCA883690063NCR1,NLRP7c.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
19g.54937984A=CA2343150113NCR1,NLRP7c.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=
19g.54937984A>GCA883690065NCR1,NLRP7c.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
19g.54937984A>TCA2587198074NCR1,NLRP7c.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
19g.54937987G>ACA2587198075NCR1,NLRP7c.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
19g.54937987G>TCA2587198076NCR1,NLRP7c.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
19g.54937988T>CCA310015673NCR1,NLRP7c.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
19g.54937988T=CA2343150114NCR1,NLRP7c.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=
19g.54937989A=CA2343150115NCR1,NLRP7c.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=
19g.54937989A>GCA2343150116NCR1,NLRP7c.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
19g.54937990C>ACA2587198077NCR1,NLRP7c.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
19g.54937991A>TCA2587198078NCR1,NLRP7c.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
19g.54937992A=CA2343150117NCR1,NLRP7c.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=
19g.54937992A>CCA2343150118NCR1,NLRP7c.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
19g.54937993G>ACA2587198079NCR1,NLRP7c.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
19g.54937996G>TCA2587198080NCR1,NLRP7c.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
19g.54937997C=CA2343150119NCR1,NLRP7c.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=
19g.54937997C>TCA2343150120NCR1,NLRP7c.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
19g.54937998T>CCA883690071NCR1,NLRP7c.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
19g.54937998T=CA2343150121NCR1,NLRP7c.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=
19g.54937999T>GCA2736091020NCR1,NLRP7c.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
19g.54938001G>CCA2587198081NCR1,NLRP7c.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
19g.54938001G>TCA2576889672NCR1,NLRP7c.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
19g.54938003C>TCA2587198082NCR1,NLRP7c.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
19g.54938004_54938008delinsATCGTCA2343150122NCR1,NLRP7c.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
19g.54938005T>CCA2587198083NCR1,NLRP7c.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
19g.54938007_54938010delCA997220192NCR1,NLRP7c.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
19g.54938006C>ACA2581397187NCR1,NLRP7c.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
19g.54938006C=CA2343150123NCR1,NLRP7c.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=
19g.54938006C>GCA150001NCR1,NLRP7c.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
19g.54938006C>TCA310015677NCR1,NLRP7c.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
19g.54938007G>ACA310015687NCR1,NLRP7c.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
19g.54938007G>CCA310015690NCR1,NLRP7c.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
19g.54938007G=CA2343150124NCR1,NLRP7c.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=
19g.54938007G>TCA2587198084NCR1,NLRP7c.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
19g.54938008T>CCA2576889674NCR1,NLRP7c.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
19g.54938008T>GCA2587198085NCR1,NLRP7c.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
19g.54938010C>TCA2576889675NCR1,NLRP7c.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
19g.54938011A=CA2343150125NCR1,NLRP7c.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=
19g.54938011A>GCA883690080NCR1,NLRP7c.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
19g.54938012G>TCA2576889676NCR1,NLRP7c.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
19g.54938013G>ACA2587198086NCR1,NLRP7c.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
19g.54938013G>CCA310015710NCR1,NLRP7c.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
19g.54938013G=CA2343150126NCR1,NLRP7c.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=
19g.54938013G>TCA310015717NCR1,NLRP7c.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
19g.54938014G>ACA310015739NCR1,NLRP7c.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
19g.54938014G=CA2343150127NCR1,NLRP7c.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=
19g.54938014G>TCA2587198087NCR1,NLRP7c.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

Number of alleles fetched