Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTCA1096526574SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTTCA1096526580SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTTTCA1096526572SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTTTTCA1096526570SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTTTTTCA1096526562SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTTTTTTCA1096526559SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTTTTTTTCA1096526512SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTTTCTTTTTTTTTTTTTTTTTTTTCA1096526510SLC22A1c.1062-50_1062-49insTTTTTTCTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTCTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTCTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTCTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTCTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTCTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTCTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTCTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTTTTTTTTCA1096526468SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA821629868SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
dbSNP gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA1096526469SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA1096526470SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA1096526471SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA1096526472SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA1096526473SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA1096526474SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTCA2773789133SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT)
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA1096526475SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA1096526477SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA1096526478SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA1096526479SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2681064990SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA1096526467SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA1096526482SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA1096526484SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA1096526494SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA1096526498SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2681065000SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTCA1096526481SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTCTTTCTTCTTCTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTCA1096526567SLC22A1c.1062-50_1062-49insTTTTCTTTCTTCTTCTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTCTTTCTTCTTCTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTCTTTCTTCTTCTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTCTTTCTTCTTCTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTCTTTCTTCTTCTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTCTTTCTTCTTCTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTCTTTCTTCTTCTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTCTTTCTTCTTCTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2681065003SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v4
6g.160139603dupCA151158032SLC22A1c.1062-50dup (n.1062-50dup)
c.1061+2953dup (n.1061+2953dup)
c.*535-50dup (n.*535-50dup)
c.486-50dup (n.486-50dup)
dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.160139602_160139603dupCA821629849SLC22A1c.1062-51_1062-50dup (n.1062-51_1062-50dup)
c.1061+2952_1061+2953dup (n.1061+2952_1061+2953dup)
c.*535-51_*535-50dup (n.*535-51_*535-50dup)
c.486-51_486-50dup (n.486-51_486-50dup)
dbSNP gnomAD v3 gnomAD v4
6g.160139601_160139603dupCA821629850SLC22A1c.1062-52_1062-50dup (n.1062-52_1062-50dup)
c.1061+2951_1061+2953dup (n.1061+2951_1061+2953dup)
c.*535-52_*535-50dup (n.*535-52_*535-50dup)
c.486-52_486-50dup (n.486-52_486-50dup)
dbSNP gnomAD v3 gnomAD v4
6g.160139600_160139603dupCA1096526522SLC22A1c.1062-53_1062-50dup (n.1062-53_1062-50dup)
c.1061+2950_1061+2953dup (n.1061+2950_1061+2953dup)
c.*535-53_*535-50dup (n.*535-53_*535-50dup)
c.486-53_486-50dup (n.486-53_486-50dup)
dbSNP gnomAD v3 gnomAD v4
6g.160139599_160139603dupCA1096526529SLC22A1c.1062-54_1062-50dup (n.1062-54_1062-50dup)
c.1061+2949_1061+2953dup (n.1061+2949_1061+2953dup)
c.*535-54_*535-50dup (n.*535-54_*535-50dup)
c.486-54_486-50dup (n.486-54_486-50dup)
dbSNP gnomAD v3 gnomAD v4
6g.160139598_160139603dupCA1096526530SLC22A1c.1062-55_1062-50dup (n.1062-55_1062-50dup)
c.1061+2948_1061+2953dup (n.1061+2948_1061+2953dup)
c.*535-55_*535-50dup (n.*535-55_*535-50dup)
c.486-55_486-50dup (n.486-55_486-50dup)
gnomAD v3 gnomAD v4
6g.160139597_160139603dupCA1096526540SLC22A1c.1062-56_1062-50dup (n.1062-56_1062-50dup)
c.1061+2947_1061+2953dup (n.1061+2947_1061+2953dup)
c.*535-56_*535-50dup (n.*535-56_*535-50dup)
c.486-56_486-50dup (n.486-56_486-50dup)
dbSNP gnomAD v3 gnomAD v4
6g.160139596_160139603dupCA1096526543SLC22A1c.1062-57_1062-50dup (n.1062-57_1062-50dup)
c.1061+2946_1061+2953dup (n.1061+2946_1061+2953dup)
c.*535-57_*535-50dup (n.*535-57_*535-50dup)
c.486-57_486-50dup (n.486-57_486-50dup)
dbSNP gnomAD v3 gnomAD v4
6g.160139595_160139603dupCA1096526544SLC22A1c.1062-58_1062-50dup (n.1062-58_1062-50dup)
c.1061+2945_1061+2953dup (n.1061+2945_1061+2953dup)
c.*535-58_*535-50dup (n.*535-58_*535-50dup)
c.486-58_486-50dup (n.486-58_486-50dup)
dbSNP gnomAD v3 gnomAD v4
6g.160139594_160139603dupCA1096526545SLC22A1c.1062-59_1062-50dup (n.1062-59_1062-50dup)
c.1061+2944_1061+2953dup (n.1061+2944_1061+2953dup)
c.*535-59_*535-50dup (n.*535-59_*535-50dup)
c.486-59_486-50dup (n.486-59_486-50dup)
dbSNP gnomAD v3 gnomAD v4
6g.160139593_160139603dupCA1096526547SLC22A1c.1062-60_1062-50dup (n.1062-60_1062-50dup)
c.1061+2943_1061+2953dup (n.1061+2943_1061+2953dup)
c.*535-60_*535-50dup (n.*535-60_*535-50dup)
c.486-60_486-50dup (n.486-60_486-50dup)
gnomAD v3 gnomAD v4
6g.160139592_160139603dupCA1096526548SLC22A1c.1062-61_1062-50dup (n.1062-61_1062-50dup)
c.1061+2942_1061+2953dup (n.1061+2942_1061+2953dup)
c.*535-61_*535-50dup (n.*535-61_*535-50dup)
c.486-61_486-50dup (n.486-61_486-50dup)
gnomAD v3 gnomAD v4
6g.160139591_160139603dupCA1096526551SLC22A1c.1062-62_1062-50dup (n.1062-62_1062-50dup)
c.1061+2941_1061+2953dup (n.1061+2941_1061+2953dup)
c.*535-62_*535-50dup (n.*535-62_*535-50dup)
c.486-62_486-50dup (n.486-62_486-50dup)
dbSNP gnomAD v3 gnomAD v4
6g.160139590_160139603dupCA1096526557SLC22A1c.1062-63_1062-50dup (n.1062-63_1062-50dup)
c.1061+2940_1061+2953dup (n.1061+2940_1061+2953dup)
c.*535-63_*535-50dup (n.*535-63_*535-50dup)
c.486-63_486-50dup (n.486-63_486-50dup)
gnomAD v3 gnomAD v4
6g.160139589_160139603dupCA1096526554SLC22A1c.1062-64_1062-50dup (n.1062-64_1062-50dup)
c.1061+2939_1061+2953dup (n.1061+2939_1061+2953dup)
c.*535-64_*535-50dup (n.*535-64_*535-50dup)
c.486-64_486-50dup (n.486-64_486-50dup)
gnomAD v3 gnomAD v4
6g.160139588_160139603dupCA1096526582SLC22A1c.1062-65_1062-50dup (n.1062-65_1062-50dup)
c.1061+2938_1061+2953dup (n.1061+2938_1061+2953dup)
c.*535-65_*535-50dup (n.*535-65_*535-50dup)
c.486-65_486-50dup (n.486-65_486-50dup)
gnomAD v3 gnomAD v4
6g.160139587_160139603dupCA821629853SLC22A1c.1062-66_1062-50dup (n.1062-66_1062-50dup)
c.1061+2937_1061+2953dup (n.1061+2937_1061+2953dup)
c.*535-66_*535-50dup (n.*535-66_*535-50dup)
c.486-66_486-50dup (n.486-66_486-50dup)
dbSNP gnomAD v3 gnomAD v4
6g.160139586_160139603dupCA1096526585SLC22A1c.1062-67_1062-50dup (n.1062-67_1062-50dup)
c.1061+2936_1061+2953dup (n.1061+2936_1061+2953dup)
c.*535-67_*535-50dup (n.*535-67_*535-50dup)
c.486-67_486-50dup (n.486-67_486-50dup)
gnomAD v3 gnomAD v4
6g.160139585_160139603dupCA1096526583SLC22A1c.1062-68_1062-50dup (n.1062-68_1062-50dup)
c.1061+2935_1061+2953dup (n.1061+2935_1061+2953dup)
c.*535-68_*535-50dup (n.*535-68_*535-50dup)
c.486-68_486-50dup (n.486-68_486-50dup)
gnomAD v3 gnomAD v4
6g.160139603delCA821629930SLC22A1c.1062-50del (n.1062-50del)
c.1061+2953del (n.1061+2953del)
c.*535-50del (n.*535-50del)
c.486-50del (n.486-50del)
dbSNP gnomAD v3 gnomAD v4
6g.160139602_160139603delCA821629874SLC22A1c.1062-51_1062-50del (n.1062-51_1062-50del)
c.1061+2952_1061+2953del (n.1061+2952_1061+2953del)
c.*535-51_*535-50del (n.*535-51_*535-50del)
c.486-51_486-50del (n.486-51_486-50del)
dbSNP gnomAD v3 gnomAD v4
6g.160139601_160139603delCA821629881SLC22A1c.1062-52_1062-50del (n.1062-52_1062-50del)
c.1061+2951_1061+2953del (n.1061+2951_1061+2953del)
c.*535-52_*535-50del (n.*535-52_*535-50del)
c.486-52_486-50del (n.486-52_486-50del)
dbSNP gnomAD v3 gnomAD v4
6g.160139600_160139603delCA821629890SLC22A1c.1062-53_1062-50del (n.1062-53_1062-50del)
c.1061+2950_1061+2953del (n.1061+2950_1061+2953del)
c.*535-53_*535-50del (n.*535-53_*535-50del)
c.486-53_486-50del (n.486-53_486-50del)
dbSNP gnomAD v3 gnomAD v4
6g.160139599_160139603delCA1096526503SLC22A1c.1062-54_1062-50del (n.1062-54_1062-50del)
c.1061+2949_1061+2953del (n.1061+2949_1061+2953del)
c.*535-54_*535-50del (n.*535-54_*535-50del)
c.486-54_486-50del (n.486-54_486-50del)
gnomAD v3 gnomAD v4
6g.160139598_160139603delCA1096526506SLC22A1c.1062-55_1062-50del (n.1062-55_1062-50del)
c.1061+2948_1061+2953del (n.1061+2948_1061+2953del)
c.*535-55_*535-50del (n.*535-55_*535-50del)
c.486-55_486-50del (n.486-55_486-50del)
dbSNP gnomAD v3 gnomAD v4
6g.160139597_160139603delCA2681065005SLC22A1c.1062-56_1062-50del (n.1062-56_1062-50del)
c.1061+2947_1061+2953del (n.1061+2947_1061+2953del)
c.*535-56_*535-50del (n.*535-56_*535-50del)
c.486-56_486-50del (n.486-56_486-50del)
dbSNP gnomAD v4
6g.160139596_160139603delCA821629892SLC22A1c.1062-57_1062-50del (n.1062-57_1062-50del)
c.1061+2946_1061+2953del (n.1061+2946_1061+2953del)
c.*535-57_*535-50del (n.*535-57_*535-50del)
c.486-57_486-50del (n.486-57_486-50del)
dbSNP gnomAD v4
6g.160139595_160139603delCA821629916SLC22A1c.1062-58_1062-50del (n.1062-58_1062-50del)
c.1061+2945_1061+2953del (n.1061+2945_1061+2953del)
c.*535-58_*535-50del (n.*535-58_*535-50del)
c.486-58_486-50del (n.486-58_486-50del)
dbSNP gnomAD v4
6g.160139594_160139603delCA1676923476SLC22A1c.1062-59_1062-50del (n.1062-59_1062-50del)
c.1061+2944_1061+2953del (n.1061+2944_1061+2953del)
c.*535-59_*535-50del (n.*535-59_*535-50del)
c.486-59_486-50del (n.486-59_486-50del)
dbSNP gnomAD v4
6g.160139597_160139598insGTTTTTTTTTTCA2773789175SLC22A1c.1062-56_1062-55insGTTTTTTTTTT (n.1062-56_1062-55insGTTTTTTTTTT)
c.1061+2947_1061+2948insGTTTTTTTTTT (n.1061+2947_1061+2948insGTTTTTTTTTT)
c.*535-56_*535-55insGTTTTTTTTTT (n.*535-56_*535-55insGTTTTTTTTTT)
c.486-56_486-55insGTTTTTTTTTT (n.486-56_486-55insGTTTTTTTTTT)
6g.160139603_160139604insTTTTTATTTTTTTCA1096526600SLC22A1c.1062-50_1062-49insTTTTTATTTTTTT (n.1062-50_1062-49insTTTTTATTTTTTT)
c.1061+2953_1061+2954insTTTTTATTTTTTT (n.1061+2953_1061+2954insTTTTTATTTTTTT)
c.*535-50_*535-49insTTTTTATTTTTTT (n.*535-50_*535-49insTTTTTATTTTTTT)
c.486-50_486-49insTTTTTATTTTTTT (n.486-50_486-49insTTTTTATTTTTTT)
gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTGTTTTTTTCA571527556SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTGTTTTTTT (n.1062-50_1062-49insTTTTTTTTTTTTGTTTTTTT)
c.1061+2953_1061+2954insTTTTTTTTTTTTGTTTTTTT (n.1061+2953_1061+2954insTTTTTTTTTTTTGTTTTTTT)
c.*535-50_*535-49insTTTTTTTTTTTTGTTTTTTT (n.*535-50_*535-49insTTTTTTTTTTTTGTTTTTTT)
c.486-50_486-49insTTTTTTTTTTTTGTTTTTTT (n.486-50_486-49insTTTTTTTTTTTTGTTTTTTT)
gnomAD v2
6g.160139599_160139606delCA2681065055SLC22A1c.1062-54_1062-47del (n.1062-54_1062-47del)
c.1061+2949_1061+2956del (n.1061+2949_1061+2956del)
c.*535-54_*535-47del (n.*535-54_*535-47del)
c.486-54_486-47del (n.486-54_486-47del)
gnomAD v4
6g.160139598T>CCA2578788880SLC22A1c.1062-55T>C (n.1062-55T>C)
c.1061+2948T>C (n.1061+2948T>C)
c.*535-55T>C (n.*535-55T>C)
c.486-55T>C (n.486-55T>C)
gnomAD v4
6g.160139598_160139599insCCA2681065056SLC22A1c.1062-55_1062-54insC (n.1062-55_1062-54insC)
c.1061+2948_1061+2949insC (n.1061+2948_1061+2949insC)
c.*535-55_*535-54insC (n.*535-55_*535-54insC)
c.486-55_486-54insC (n.486-55_486-54insC)
gnomAD v4
6g.160139599T>CCA2681065057SLC22A1c.1062-54T>C (n.1062-54T>C)
c.1061+2949T>C (n.1061+2949T>C)
c.*535-54T>C (n.*535-54T>C)
c.486-54T>C (n.486-54T>C)
gnomAD v4
6g.160139599_160139600insCCA2681065058SLC22A1c.1062-54_1062-53insC (n.1062-54_1062-53insC)
c.1061+2949_1061+2950insC (n.1061+2949_1061+2950insC)
c.*535-54_*535-53insC (n.*535-54_*535-53insC)
c.486-54_486-53insC (n.486-54_486-53insC)
gnomAD v4
6g.160139600T>CCA821629955SLC22A1c.1062-53T>C (n.1062-53T>C)
c.1061+2950T>C (n.1061+2950T>C)
c.*535-53T>C (n.*535-53T>C)
c.486-53T>C (n.486-53T>C)
dbSNP gnomAD v3 gnomAD v4
6g.160139600T=CA1676923484SLC22A1c.1062-53T= (n.1062-53T=)
c.1061+2950T= (n.1061+2950T=)
c.*535-53T= (n.*535-53T=)
c.486-53T= (n.486-53T=)
6g.160139602_160139606delCA2681065059SLC22A1c.1062-51_1062-47del (n.1062-51_1062-47del)
c.1061+2952_1061+2956del (n.1061+2952_1061+2956del)
c.*535-51_*535-47del (n.*535-51_*535-47del)
c.486-51_486-47del (n.486-51_486-47del)
gnomAD v4
6g.160139600_160139601insACA2681065060SLC22A1c.1062-53_1062-52insA (n.1062-53_1062-52insA)
c.1061+2950_1061+2951insA (n.1061+2950_1061+2951insA)
c.*535-53_*535-52insA (n.*535-53_*535-52insA)
c.486-53_486-52insA (n.486-53_486-52insA)
gnomAD v4
6g.160139600_160139601insCCA2681065062SLC22A1c.1062-53_1062-52insC (n.1062-53_1062-52insC)
c.1061+2950_1061+2951insC (n.1061+2950_1061+2951insC)
c.*535-53_*535-52insC (n.*535-53_*535-52insC)
c.486-53_486-52insC (n.486-53_486-52insC)
gnomAD v4
6g.160139601T>CCA2681065065SLC22A1c.1062-52T>C (n.1062-52T>C)
c.1061+2951T>C (n.1061+2951T>C)
c.*535-52T>C (n.*535-52T>C)
c.486-52T>C (n.486-52T>C)
gnomAD v4
6g.160139601T>GCA2773789179SLC22A1c.1062-52T>G (n.1062-52T>G)
c.1061+2951T>G (n.1061+2951T>G)
c.*535-52T>G (n.*535-52T>G)
c.486-52T>G (n.486-52T>G)
6g.160139603_160139604insTTTTTTTGTTTCA2681065063SLC22A1c.1062-50_1062-49insTTTTTTTGTTT (n.1062-50_1062-49insTTTTTTTGTTT)
c.1061+2953_1061+2954insTTTTTTTGTTT (n.1061+2953_1061+2954insTTTTTTTGTTT)
c.*535-50_*535-49insTTTTTTTGTTT (n.*535-50_*535-49insTTTTTTTGTTT)
c.486-50_486-49insTTTTTTTGTTT (n.486-50_486-49insTTTTTTTGTTT)
gnomAD v4
6g.160139603_160139606delCA2681065064SLC22A1c.1062-50_1062-47del (n.1062-50_1062-47del)
c.1061+2953_1061+2956del (n.1061+2953_1061+2956del)
c.*535-50_*535-47del (n.*535-50_*535-47del)
c.486-50_486-47del (n.486-50_486-47del)
gnomAD v4
6g.160139601_160139602insACA2681065070SLC22A1c.1062-52_1062-51insA (n.1062-52_1062-51insA)
c.1061+2951_1061+2952insA (n.1061+2951_1061+2952insA)
c.*535-52_*535-51insA (n.*535-52_*535-51insA)
c.486-52_486-51insA (n.486-52_486-51insA)
gnomAD v4
6g.160139601_160139602insCCA2681065066SLC22A1c.1062-52_1062-51insC (n.1062-52_1062-51insC)
c.1061+2951_1061+2952insC (n.1061+2951_1061+2952insC)
c.*535-52_*535-51insC (n.*535-52_*535-51insC)
c.486-52_486-51insC (n.486-52_486-51insC)
gnomAD v4
6g.160139601_160139602insATTAACA2681065069SLC22A1c.1062-52_1062-51insATTAA (n.1062-52_1062-51insATTAA)
c.1061+2951_1061+2952insATTAA (n.1061+2951_1061+2952insATTAA)
c.*535-52_*535-51insATTAA (n.*535-52_*535-51insATTAA)
c.486-52_486-51insATTAA (n.486-52_486-51insATTAA)
gnomAD v4
6g.160139602T>CCA571527557SLC22A1c.1062-51T>C (n.1062-51T>C)
c.1061+2952T>C (n.1061+2952T>C)
c.*535-51T>C (n.*535-51T>C)
c.486-51T>C (n.486-51T>C)
dbSNP gnomAD v2 gnomAD v4
6g.160139602T=CA1676923486SLC22A1c.1062-51T= (n.1062-51T=)
c.1061+2952T= (n.1061+2952T=)
c.*535-51T= (n.*535-51T=)
c.486-51T= (n.486-51T=)
6g.160139603_160139604insTTTTTGTTCA2681065068SLC22A1c.1062-50_1062-49insTTTTTGTT (n.1062-50_1062-49insTTTTTGTT)
c.1061+2953_1061+2954insTTTTTGTT (n.1061+2953_1061+2954insTTTTTGTT)
c.*535-50_*535-49insTTTTTGTT (n.*535-50_*535-49insTTTTTGTT)
c.486-50_486-49insTTTTTGTT (n.486-50_486-49insTTTTTGTT)
gnomAD v4
6g.160139603_160139604insTTTTTTGTTCA2681065067SLC22A1c.1062-50_1062-49insTTTTTTGTT (n.1062-50_1062-49insTTTTTTGTT)
c.1061+2953_1061+2954insTTTTTTGTT (n.1061+2953_1061+2954insTTTTTTGTT)
c.*535-50_*535-49insTTTTTTGTT (n.*535-50_*535-49insTTTTTTGTT)
c.486-50_486-49insTTTTTTGTT (n.486-50_486-49insTTTTTTGTT)
gnomAD v4
6g.160139602_160139604delinsTTCCA1676923485SLC22A1c.1062-51_1062-49delinsTTC (n.1062-51_1062-49delinsTTC)
c.1061+2952_1061+2954delinsTTC (n.1061+2952_1061+2954delinsTTC)
c.*535-51_*535-49delinsTTC (n.*535-51_*535-49delinsTTC)
c.486-51_486-49delinsTTC (n.486-51_486-49delinsTTC)
6g.160139605_160139607delCA2578788881SLC22A1c.1062-48_1062-46del (n.1062-48_1062-46del)
c.1061+2955_1061+2957del (n.1061+2955_1061+2957del)
c.*535-48_*535-46del (n.*535-48_*535-46del)
c.486-48_486-46del (n.486-48_486-46del)
gnomAD v4
6g.160139602_160139603insAAGCA2773789188SLC22A1c.1062-51_1062-50insAAG (n.1062-51_1062-50insAAG)
c.1061+2952_1061+2953insAAG (n.1061+2952_1061+2953insAAG)
c.*535-51_*535-50insAAG (n.*535-51_*535-50insAAG)
c.486-51_486-50insAAG (n.486-51_486-50insAAG)
6g.160139602_160139603insATTAACA2681065078SLC22A1c.1062-51_1062-50insATTAA (n.1062-51_1062-50insATTAA)
c.1061+2952_1061+2953insATTAA (n.1061+2952_1061+2953insATTAA)
c.*535-51_*535-50insATTAA (n.*535-51_*535-50insATTAA)
c.486-51_486-50insATTAA (n.486-51_486-50insATTAA)
gnomAD v4
6g.160139602_160139603insATTAAACA2681065077SLC22A1c.1062-51_1062-50insATTAAA (n.1062-51_1062-50insATTAAA)
c.1061+2952_1061+2953insATTAAA (n.1061+2952_1061+2953insATTAAA)
c.*535-51_*535-50insATTAAA (n.*535-51_*535-50insATTAAA)
c.486-51_486-50insATTAAA (n.486-51_486-50insATTAAA)
gnomAD v4
6g.160139602_160139603insATTAACCA2681065076SLC22A1c.1062-51_1062-50insATTAAC (n.1062-51_1062-50insATTAAC)
c.1061+2952_1061+2953insATTAAC (n.1061+2952_1061+2953insATTAAC)
c.*535-51_*535-50insATTAAC (n.*535-51_*535-50insATTAAC)
c.486-51_486-50insATTAAC (n.486-51_486-50insATTAAC)
gnomAD v4
6g.160139602_160139603insATTAATTACA2681065075SLC22A1c.1062-51_1062-50insATTAATTA (n.1062-51_1062-50insATTAATTA)
c.1061+2952_1061+2953insATTAATTA (n.1061+2952_1061+2953insATTAATTA)
c.*535-51_*535-50insATTAATTA (n.*535-51_*535-50insATTAATTA)
c.486-51_486-50insATTAATTA (n.486-51_486-50insATTAATTA)
gnomAD v4
6g.160139602_160139603insATTAATTAAACA2681065074SLC22A1c.1062-51_1062-50insATTAATTAAA (n.1062-51_1062-50insATTAATTAAA)
c.1061+2952_1061+2953insATTAATTAAA (n.1061+2952_1061+2953insATTAATTAAA)
c.*535-51_*535-50insATTAATTAAA (n.*535-51_*535-50insATTAATTAAA)
c.486-51_486-50insATTAATTAAA (n.486-51_486-50insATTAATTAAA)
gnomAD v4
6g.160139603T>ACA1676923487SLC22A1c.1062-50T>A (n.1062-50T>A)
c.1061+2953T>A (n.1061+2953T>A)
c.*535-50T>A (n.*535-50T>A)
c.486-50T>A (n.486-50T>A)
dbSNP
6g.160139603T>CCA571527558SLC22A1c.1062-50T>C (n.1062-50T>C)
c.1061+2953T>C (n.1061+2953T>C)
c.*535-50T>C (n.*535-50T>C)
c.486-50T>C (n.486-50T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.160139603T=CA1676923488SLC22A1c.1062-50T= (n.1062-50T=)
c.1061+2953T= (n.1061+2953T=)
c.*535-50T= (n.*535-50T=)
c.486-50T= (n.486-50T=)
6g.160139603_160139604insTTTCTCA1096526608SLC22A1c.1062-50_1062-49insTTTCT (n.1062-50_1062-49insTTTCT)
c.1061+2953_1061+2954insTTTCT (n.1061+2953_1061+2954insTTTCT)
c.*535-50_*535-49insTTTCT (n.*535-50_*535-49insTTTCT)
c.486-50_486-49insTTTCT (n.486-50_486-49insTTTCT)
gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTATCA1096526607SLC22A1c.1062-50_1062-49insTTTTAT (n.1062-50_1062-49insTTTTAT)
c.1061+2953_1061+2954insTTTTAT (n.1061+2953_1061+2954insTTTTAT)
c.*535-50_*535-49insTTTTAT (n.*535-50_*535-49insTTTTAT)
c.486-50_486-49insTTTTAT (n.486-50_486-49insTTTTAT)
gnomAD v3 gnomAD v4
6g.160139603_160139604insTTTTTATCA2773789194SLC22A1c.1062-50_1062-49insTTTTTAT (n.1062-50_1062-49insTTTTTAT)
c.1061+2953_1061+2954insTTTTTAT (n.1061+2953_1061+2954insTTTTTAT)
c.*535-50_*535-49insTTTTTAT (n.*535-50_*535-49insTTTTTAT)
c.486-50_486-49insTTTTTAT (n.486-50_486-49insTTTTTAT)
6g.160139603_160139604insTATTAAGTCA2681065079SLC22A1c.1062-50_1062-49insTATTAAGT (n.1062-50_1062-49insTATTAAGT)
c.1061+2953_1061+2954insTATTAAGT (n.1061+2953_1061+2954insTATTAAGT)
c.*535-50_*535-49insTATTAAGT (n.*535-50_*535-49insTATTAAGT)
c.486-50_486-49insTATTAAGT (n.486-50_486-49insTATTAAGT)
gnomAD v4
6g.160139603_160139604insTTTTTTATCA2681065073SLC22A1c.1062-50_1062-49insTTTTTTAT (n.1062-50_1062-49insTTTTTTAT)
c.1061+2953_1061+2954insTTTTTTAT (n.1061+2953_1061+2954insTTTTTTAT)
c.*535-50_*535-49insTTTTTTAT (n.*535-50_*535-49insTTTTTTAT)
c.486-50_486-49insTTTTTTAT (n.486-50_486-49insTTTTTTAT)
gnomAD v4
6g.160139603_160139604insTTTTTTGTCA2681065072SLC22A1c.1062-50_1062-49insTTTTTTGT (n.1062-50_1062-49insTTTTTTGT)
c.1061+2953_1061+2954insTTTTTTGT (n.1061+2953_1061+2954insTTTTTTGT)
c.*535-50_*535-49insTTTTTTGT (n.*535-50_*535-49insTTTTTTGT)
c.486-50_486-49insTTTTTTGT (n.486-50_486-49insTTTTTTGT)
gnomAD v4
6g.160139603_160139604insTTTTTCAGTCA2773789191SLC22A1c.1062-50_1062-49insTTTTTCAGT (n.1062-50_1062-49insTTTTTCAGT)
c.1061+2953_1061+2954insTTTTTCAGT (n.1061+2953_1061+2954insTTTTTCAGT)
c.*535-50_*535-49insTTTTTCAGT (n.*535-50_*535-49insTTTTTCAGT)
c.486-50_486-49insTTTTTCAGT (n.486-50_486-49insTTTTTCAGT)
6g.160139603_160139604insTTTTTTTGTCA2681065071SLC22A1c.1062-50_1062-49insTTTTTTTGT (n.1062-50_1062-49insTTTTTTTGT)
c.1061+2953_1061+2954insTTTTTTTGT (n.1061+2953_1061+2954insTTTTTTTGT)
c.*535-50_*535-49insTTTTTTTGT (n.*535-50_*535-49insTTTTTTTGT)
c.486-50_486-49insTTTTTTTGT (n.486-50_486-49insTTTTTTTGT)
gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTATCA2773789195SLC22A1c.1062-50_1062-49insTTTTTTTTTTTAT (n.1062-50_1062-49insTTTTTTTTTTTAT)
c.1061+2953_1061+2954insTTTTTTTTTTTAT (n.1061+2953_1061+2954insTTTTTTTTTTTAT)
c.*535-50_*535-49insTTTTTTTTTTTAT (n.*535-50_*535-49insTTTTTTTTTTTAT)
c.486-50_486-49insTTTTTTTTTTTAT (n.486-50_486-49insTTTTTTTTTTTAT)
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTTTTTTTATCA917903663SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTAT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTAT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTAT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTAT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTAT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTAT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTAT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTAT)
dbSNP
6g.160139603_160139604insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATCA1096526606SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAT (n.1062-50_1062-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAT)
c.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAT (n.1061+2953_1061+2954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAT)
c.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAT (n.*535-50_*535-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAT)
c.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAT (n.486-50_486-49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAT)
gnomAD v3 gnomAD v4
6g.160139603_160139604delinsTCCA1676923489SLC22A1c.1062-50_1062-49delinsTC (n.1062-50_1062-49delinsTC)
c.1061+2953_1061+2954delinsTC (n.1061+2953_1061+2954delinsTC)
c.*535-50_*535-49delinsTC (n.*535-50_*535-49delinsTC)
c.486-50_486-49delinsTC (n.486-50_486-49delinsTC)
6g.160139604_160139605delCA4083949SLC22A1c.1062-49_1062-48del (n.1062-49_1062-48del)
c.1061+2954_1061+2955del (n.1061+2954_1061+2955del)
c.*535-49_*535-48del (n.*535-49_*535-48del)
c.486-49_486-48del (n.486-49_486-48del)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.160139603_160139604insGAGCA2578788882SLC22A1c.1062-50_1062-49insGAG (n.1062-50_1062-49insGAG)
c.1061+2953_1061+2954insGAG (n.1061+2953_1061+2954insGAG)
c.*535-50_*535-49insGAG (n.*535-50_*535-49insGAG)
c.486-50_486-49insGAG (n.486-50_486-49insGAG)
6g.160139603_160139604insATTACA2681065095SLC22A1c.1062-50_1062-49insATTA (n.1062-50_1062-49insATTA)
c.1061+2953_1061+2954insATTA (n.1061+2953_1061+2954insATTA)
c.*535-50_*535-49insATTA (n.*535-50_*535-49insATTA)
c.486-50_486-49insATTA (n.486-50_486-49insATTA)
gnomAD v4
6g.160139603_160139604insTATTACA2681065094SLC22A1c.1062-50_1062-49insTATTA (n.1062-50_1062-49insTATTA)
c.1061+2953_1061+2954insTATTA (n.1061+2953_1061+2954insTATTA)
c.*535-50_*535-49insTATTA (n.*535-50_*535-49insTATTA)
c.486-50_486-49insTATTA (n.486-50_486-49insTATTA)
gnomAD v4
6g.160139603_160139604insTGTTACA2681065091SLC22A1c.1062-50_1062-49insTGTTA (n.1062-50_1062-49insTGTTA)
c.1061+2953_1061+2954insTGTTA (n.1061+2953_1061+2954insTGTTA)
c.*535-50_*535-49insTGTTA (n.*535-50_*535-49insTGTTA)
c.486-50_486-49insTGTTA (n.486-50_486-49insTGTTA)
gnomAD v4
6g.160139603_160139604insTTTTACA2681065086SLC22A1c.1062-50_1062-49insTTTTA (n.1062-50_1062-49insTTTTA)
c.1061+2953_1061+2954insTTTTA (n.1061+2953_1061+2954insTTTTA)
c.*535-50_*535-49insTTTTA (n.*535-50_*535-49insTTTTA)
c.486-50_486-49insTTTTA (n.486-50_486-49insTTTTA)
gnomAD v4
6g.160139603_160139604insTATTAACA2681065093SLC22A1c.1062-50_1062-49insTATTAA (n.1062-50_1062-49insTATTAA)
c.1061+2953_1061+2954insTATTAA (n.1061+2953_1061+2954insTATTAA)
c.*535-50_*535-49insTATTAA (n.*535-50_*535-49insTATTAA)
c.486-50_486-49insTATTAA (n.486-50_486-49insTATTAA)
gnomAD v4
6g.160139603_160139604insTTATTACA2681065090SLC22A1c.1062-50_1062-49insTTATTA (n.1062-50_1062-49insTTATTA)
c.1061+2953_1061+2954insTTATTA (n.1061+2953_1061+2954insTTATTA)
c.*535-50_*535-49insTTATTA (n.*535-50_*535-49insTTATTA)
c.486-50_486-49insTTATTA (n.486-50_486-49insTTATTA)
gnomAD v4
6g.160139603_160139604insTTTTTACA2681065085SLC22A1c.1062-50_1062-49insTTTTTA (n.1062-50_1062-49insTTTTTA)
c.1061+2953_1061+2954insTTTTTA (n.1061+2953_1061+2954insTTTTTA)
c.*535-50_*535-49insTTTTTA (n.*535-50_*535-49insTTTTTA)
c.486-50_486-49insTTTTTA (n.486-50_486-49insTTTTTA)
gnomAD v4
6g.160139603_160139604insTTTTTCCA2681065084SLC22A1c.1062-50_1062-49insTTTTTC (n.1062-50_1062-49insTTTTTC)
c.1061+2953_1061+2954insTTTTTC (n.1061+2953_1061+2954insTTTTTC)
c.*535-50_*535-49insTTTTTC (n.*535-50_*535-49insTTTTTC)
c.486-50_486-49insTTTTTC (n.486-50_486-49insTTTTTC)
gnomAD v4
6g.160139603_160139604insTTTTTGCA2681065083SLC22A1c.1062-50_1062-49insTTTTTG (n.1062-50_1062-49insTTTTTG)
c.1061+2953_1061+2954insTTTTTG (n.1061+2953_1061+2954insTTTTTG)
c.*535-50_*535-49insTTTTTG (n.*535-50_*535-49insTTTTTG)
c.486-50_486-49insTTTTTG (n.486-50_486-49insTTTTTG)
gnomAD v4
6g.160139603_160139604insTTATTAACA2681065089SLC22A1c.1062-50_1062-49insTTATTAA (n.1062-50_1062-49insTTATTAA)
c.1061+2953_1061+2954insTTATTAA (n.1061+2953_1061+2954insTTATTAA)
c.*535-50_*535-49insTTATTAA (n.*535-50_*535-49insTTATTAA)
c.486-50_486-49insTTATTAA (n.486-50_486-49insTTATTAA)
gnomAD v4
6g.160139603_160139604insTTTATTACA2681065087SLC22A1c.1062-50_1062-49insTTTATTA (n.1062-50_1062-49insTTTATTA)
c.1061+2953_1061+2954insTTTATTA (n.1061+2953_1061+2954insTTTATTA)
c.*535-50_*535-49insTTTATTA (n.*535-50_*535-49insTTTATTA)
c.486-50_486-49insTTTATTA (n.486-50_486-49insTTTATTA)
gnomAD v4
6g.160139603_160139604insTTTTTTGCA2681065082SLC22A1c.1062-50_1062-49insTTTTTTG (n.1062-50_1062-49insTTTTTTG)
c.1061+2953_1061+2954insTTTTTTG (n.1061+2953_1061+2954insTTTTTTG)
c.*535-50_*535-49insTTTTTTG (n.*535-50_*535-49insTTTTTTG)
c.486-50_486-49insTTTTTTG (n.486-50_486-49insTTTTTTG)
gnomAD v4
6g.160139603_160139604insTTTAATAACA2681065088SLC22A1c.1062-50_1062-49insTTTAATAA (n.1062-50_1062-49insTTTAATAA)
c.1061+2953_1061+2954insTTTAATAA (n.1061+2953_1061+2954insTTTAATAA)
c.*535-50_*535-49insTTTAATAA (n.*535-50_*535-49insTTTAATAA)
c.486-50_486-49insTTTAATAA (n.486-50_486-49insTTTAATAA)
gnomAD v4
6g.160139603_160139604insTTTTTTTACA2773789198SLC22A1c.1062-50_1062-49insTTTTTTTA (n.1062-50_1062-49insTTTTTTTA)
c.1061+2953_1061+2954insTTTTTTTA (n.1061+2953_1061+2954insTTTTTTTA)
c.*535-50_*535-49insTTTTTTTA (n.*535-50_*535-49insTTTTTTTA)
c.486-50_486-49insTTTTTTTA (n.486-50_486-49insTTTTTTTA)
6g.160139603_160139604insTTTTTTTGCA2681065081SLC22A1c.1062-50_1062-49insTTTTTTTG (n.1062-50_1062-49insTTTTTTTG)
c.1061+2953_1061+2954insTTTTTTTG (n.1061+2953_1061+2954insTTTTTTTG)
c.*535-50_*535-49insTTTTTTTG (n.*535-50_*535-49insTTTTTTTG)
c.486-50_486-49insTTTTTTTG (n.486-50_486-49insTTTTTTTG)
gnomAD v4
6g.160139603_160139604insTATTAATTAACA2681065092SLC22A1c.1062-50_1062-49insTATTAATTAA (n.1062-50_1062-49insTATTAATTAA)
c.1061+2953_1061+2954insTATTAATTAA (n.1061+2953_1061+2954insTATTAATTAA)
c.*535-50_*535-49insTATTAATTAA (n.*535-50_*535-49insTATTAATTAA)
c.486-50_486-49insTATTAATTAA (n.486-50_486-49insTATTAATTAA)
gnomAD v4
6g.160139603_160139604insTTTTTTTTTTTTTGCA2681065080SLC22A1c.1062-50_1062-49insTTTTTTTTTTTTTG (n.1062-50_1062-49insTTTTTTTTTTTTTG)
c.1061+2953_1061+2954insTTTTTTTTTTTTTG (n.1061+2953_1061+2954insTTTTTTTTTTTTTG)
c.*535-50_*535-49insTTTTTTTTTTTTTG (n.*535-50_*535-49insTTTTTTTTTTTTTG)
c.486-50_486-49insTTTTTTTTTTTTTG (n.486-50_486-49insTTTTTTTTTTTTTG)
gnomAD v4
6g.160139604delCA4083950SLC22A1c.1062-49del (n.1062-49del)
c.1061+2954del (n.1061+2954del)
c.*535-49del (n.*535-49del)
c.486-49del (n.486-49del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.160139604C>ACA1096526615SLC22A1c.1062-49C>A (n.1062-49C>A)
c.1061+2954C>A (n.1061+2954C>A)
c.*535-49C>A (n.*535-49C>A)
c.486-49C>A (n.486-49C>A)
dbSNP gnomAD v3 gnomAD v4
6g.160139604C=CA1676923490SLC22A1c.1062-49C= (n.1062-49C=)
c.1061+2954C= (n.1061+2954C=)
c.*535-49C= (n.*535-49C=)
c.486-49C= (n.486-49C=)
6g.160139604C>GCA1096526618SLC22A1c.1062-49C>G (n.1062-49C>G)
c.1061+2954C>G (n.1061+2954C>G)
c.*535-49C>G (n.*535-49C>G)
c.486-49C>G (n.486-49C>G)
dbSNP gnomAD v3 gnomAD v4
6g.160139604C>TCA4083952SLC22A1c.1062-49C>T (n.1062-49C>T)
c.1061+2954C>T (n.1061+2954C>T)
c.*535-49C>T (n.*535-49C>T)
c.486-49C>T (n.486-49C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160139604dupCA4083951SLC22A1c.1062-49dup (n.1062-49dup)
c.1061+2954dup (n.1061+2954dup)
c.*535-49dup (n.*535-49dup)
c.486-49dup (n.486-49dup)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160139605T>ACA2681065097SLC22A1c.1062-48T>A (n.1062-48T>A)
c.1061+2955T>A (n.1061+2955T>A)
c.*535-48T>A (n.*535-48T>A)
c.486-48T>A (n.486-48T>A)
gnomAD v4
6g.160139605T>GCA2681065096SLC22A1c.1062-48T>G (n.1062-48T>G)
c.1061+2955T>G (n.1061+2955T>G)
c.*535-48T>G (n.*535-48T>G)
c.486-48T>G (n.486-48T>G)
gnomAD v4
6g.160139605T=CA1676923492SLC22A1c.1062-48T= (n.1062-48T=)
c.1061+2955T= (n.1061+2955T=)
c.*535-48T= (n.*535-48T=)
c.486-48T= (n.486-48T=)
6g.160139605_160139606insGTTTTTGTTTTTTTTTTTTTTTTTCA1096526626SLC22A1c.1062-48_1062-47insGTTTTTGTTTTTTTTTTTTTTTTT (n.1062-48_1062-47insGTTTTTGTTTTTTTTTTTTTTTTT)
c.1061+2955_1061+2956insGTTTTTGTTTTTTTTTTTTTTTTT (n.1061+2955_1061+2956insGTTTTTGTTTTTTTTTTTTTTTTT)
c.*535-48_*535-47insGTTTTTGTTTTTTTTTTTTTTTTT (n.*535-48_*535-47insGTTTTTGTTTTTTTTTTTTTTTTT)
c.486-48_486-47insGTTTTTGTTTTTTTTTTTTTTTTT (n.486-48_486-47insGTTTTTGTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139606_160139607insTTTCA1096526622SLC22A1c.1062-47_1062-46insTTT (n.1062-47_1062-46insTTT)
c.1061+2956_1061+2957insTTT (n.1061+2956_1061+2957insTTT)
c.*535-47_*535-46insTTT (n.*535-47_*535-46insTTT)
c.486-47_486-46insTTT (n.486-47_486-46insTTT)
gnomAD v3 gnomAD v4
6g.160139606_160139607insTTTTCA2681065098SLC22A1c.1062-47_1062-46insTTTT (n.1062-47_1062-46insTTTT)
c.1061+2956_1061+2957insTTTT (n.1061+2956_1061+2957insTTTT)
c.*535-47_*535-46insTTTT (n.*535-47_*535-46insTTTT)
c.486-47_486-46insTTTT (n.486-47_486-46insTTTT)
gnomAD v4
6g.160139606_160139607insTTTTTTCA571527559SLC22A1c.1062-47_1062-46insTTTTTT (n.1062-47_1062-46insTTTTTT)
c.1061+2956_1061+2957insTTTTTT (n.1061+2956_1061+2957insTTTTTT)
c.*535-47_*535-46insTTTTTT (n.*535-47_*535-46insTTTTTT)
c.486-47_486-46insTTTTTT (n.486-47_486-46insTTTTTT)
gnomAD v2
6g.160139606_160139607insTTTTTTTCA1096526625SLC22A1c.1062-47_1062-46insTTTTTTT (n.1062-47_1062-46insTTTTTTT)
c.1061+2956_1061+2957insTTTTTTT (n.1061+2956_1061+2957insTTTTTTT)
c.*535-47_*535-46insTTTTTTT (n.*535-47_*535-46insTTTTTTT)
c.486-47_486-46insTTTTTTT (n.486-47_486-46insTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139606_160139607insTTTCTTTTCA1676923491SLC22A1c.1062-47_1062-46insTTTCTTTT (n.1062-47_1062-46insTTTCTTTT)
c.1061+2956_1061+2957insTTTCTTTT (n.1061+2956_1061+2957insTTTCTTTT)
c.*535-47_*535-46insTTTCTTTT (n.*535-47_*535-46insTTTCTTTT)
c.486-47_486-46insTTTCTTTT (n.486-47_486-46insTTTCTTTT)
dbSNP
6g.160139606_160139607insTTTTTTTTCA1096526624SLC22A1c.1062-47_1062-46insTTTTTTTT (n.1062-47_1062-46insTTTTTTTT)
c.1061+2956_1061+2957insTTTTTTTT (n.1061+2956_1061+2957insTTTTTTTT)
c.*535-47_*535-46insTTTTTTTT (n.*535-47_*535-46insTTTTTTTT)
c.486-47_486-46insTTTTTTTT (n.486-47_486-46insTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139606_160139607insTTTTTTTTTTTTTTCA1096526623SLC22A1c.1062-47_1062-46insTTTTTTTTTTTTTT (n.1062-47_1062-46insTTTTTTTTTTTTTT)
c.1061+2956_1061+2957insTTTTTTTTTTTTTT (n.1061+2956_1061+2957insTTTTTTTTTTTTTT)
c.*535-47_*535-46insTTTTTTTTTTTTTT (n.*535-47_*535-46insTTTTTTTTTTTTTT)
c.486-47_486-46insTTTTTTTTTTTTTT (n.486-47_486-46insTTTTTTTTTTTTTT)
dbSNP gnomAD v3 gnomAD v4
6g.160139606dupCA2681065100SLC22A1c.1062-47dup (n.1062-47dup)
c.1061+2956dup (n.1061+2956dup)
c.*535-47dup (n.*535-47dup)
c.486-47dup (n.486-47dup)
gnomAD v4
6g.160139605_160139606dupCA2681065099SLC22A1c.1062-48_1062-47dup (n.1062-48_1062-47dup)
c.1061+2955_1061+2956dup (n.1061+2955_1061+2956dup)
c.*535-48_*535-47dup (n.*535-48_*535-47dup)
c.486-48_486-47dup (n.486-48_486-47dup)
gnomAD v4
6g.160139605_160139606insACA2681065118SLC22A1c.1062-48_1062-47insA (n.1062-48_1062-47insA)
c.1061+2955_1061+2956insA (n.1061+2955_1061+2956insA)
c.*535-48_*535-47insA (n.*535-48_*535-47insA)
c.486-48_486-47insA (n.486-48_486-47insA)
gnomAD v4
6g.160139605_160139606insGCA2681065113SLC22A1c.1062-48_1062-47insG (n.1062-48_1062-47insG)
c.1061+2955_1061+2956insG (n.1061+2955_1061+2956insG)
c.*535-48_*535-47insG (n.*535-48_*535-47insG)
c.486-48_486-47insG (n.486-48_486-47insG)
gnomAD v4
6g.160139605_160139606insAACA2681065117SLC22A1c.1062-48_1062-47insAA (n.1062-48_1062-47insAA)
c.1061+2955_1061+2956insAA (n.1061+2955_1061+2956insAA)
c.*535-48_*535-47insAA (n.*535-48_*535-47insAA)
c.486-48_486-47insAA (n.486-48_486-47insAA)
gnomAD v4
6g.160139605_160139606insATTAACA2681065116SLC22A1c.1062-48_1062-47insATTAA (n.1062-48_1062-47insATTAA)
c.1061+2955_1061+2956insATTAA (n.1061+2955_1061+2956insATTAA)
c.*535-48_*535-47insATTAA (n.*535-48_*535-47insATTAA)
c.486-48_486-47insATTAA (n.486-48_486-47insATTAA)
gnomAD v4
6g.160139605_160139606insATTAAACA2681065115SLC22A1c.1062-48_1062-47insATTAAA (n.1062-48_1062-47insATTAAA)
c.1061+2955_1061+2956insATTAAA (n.1061+2955_1061+2956insATTAAA)
c.*535-48_*535-47insATTAAA (n.*535-48_*535-47insATTAAA)
c.486-48_486-47insATTAAA (n.486-48_486-47insATTAAA)
gnomAD v4
6g.160139605_160139606insATTAAGCA2681065114SLC22A1c.1062-48_1062-47insATTAAG (n.1062-48_1062-47insATTAAG)
c.1061+2955_1061+2956insATTAAG (n.1061+2955_1061+2956insATTAAG)
c.*535-48_*535-47insATTAAG (n.*535-48_*535-47insATTAAG)
c.486-48_486-47insATTAAG (n.486-48_486-47insATTAAG)
gnomAD v4
6g.160139606T>ACA2681065103SLC22A1c.1062-47T>A (n.1062-47T>A)
c.1061+2956T>A (n.1061+2956T>A)
c.*535-47T>A (n.*535-47T>A)
c.486-47T>A (n.486-47T>A)
gnomAD v4
6g.160139606T>CCA2681065102SLC22A1c.1062-47T>C (n.1062-47T>C)
c.1061+2956T>C (n.1061+2956T>C)
c.*535-47T>C (n.*535-47T>C)
c.486-47T>C (n.486-47T>C)
gnomAD v4
6g.160139606T>GCA2578788883SLC22A1c.1062-47T>G (n.1062-47T>G)
c.1061+2956T>G (n.1061+2956T>G)
c.*535-47T>G (n.*535-47T>G)
c.486-47T>G (n.486-47T>G)
6g.160139606_160139607insAATCA2773789204SLC22A1c.1062-47_1062-46insAAT (n.1062-47_1062-46insAAT)
c.1061+2956_1061+2957insAAT (n.1061+2956_1061+2957insAAT)
c.*535-47_*535-46insAAT (n.*535-47_*535-46insAAT)
c.486-47_486-46insAAT (n.486-47_486-46insAAT)
6g.160139606_160139607insTAATCA2681065110SLC22A1c.1062-47_1062-46insTAAT (n.1062-47_1062-46insTAAT)
c.1061+2956_1061+2957insTAAT (n.1061+2956_1061+2957insTAAT)
c.*535-47_*535-46insTAAT (n.*535-47_*535-46insTAAT)
c.486-47_486-46insTAAT (n.486-47_486-46insTAAT)
gnomAD v4
6g.160139606_160139607insTTCTCA2681065107SLC22A1c.1062-47_1062-46insTTCT (n.1062-47_1062-46insTTCT)
c.1061+2956_1061+2957insTTCT (n.1061+2956_1061+2957insTTCT)
c.*535-47_*535-46insTTCT (n.*535-47_*535-46insTTCT)
c.486-47_486-46insTTCT (n.486-47_486-46insTTCT)
gnomAD v4
6g.160139606_160139607insTAAATCA2681065109SLC22A1c.1062-47_1062-46insTAAAT (n.1062-47_1062-46insTAAAT)
c.1061+2956_1061+2957insTAAAT (n.1061+2956_1061+2957insTAAAT)
c.*535-47_*535-46insTAAAT (n.*535-47_*535-46insTAAAT)
c.486-47_486-46insTAAAT (n.486-47_486-46insTAAAT)
gnomAD v4
6g.160139606_160139607insTTAATCA2681065101SLC22A1c.1062-47_1062-46insTTAAT (n.1062-47_1062-46insTTAAT)
c.1061+2956_1061+2957insTTAAT (n.1061+2956_1061+2957insTTAAT)
c.*535-47_*535-46insTTAAT (n.*535-47_*535-46insTTAAT)
c.486-47_486-46insTTAAT (n.486-47_486-46insTTAAT)
gnomAD v4
6g.160139606_160139607insTTAGTCA2773789203SLC22A1c.1062-47_1062-46insTTAGT (n.1062-47_1062-46insTTAGT)
c.1061+2956_1061+2957insTTAGT (n.1061+2956_1061+2957insTTAGT)
c.*535-47_*535-46insTTAGT (n.*535-47_*535-46insTTAGT)
c.486-47_486-46insTTAGT (n.486-47_486-46insTTAGT)
6g.160139606_160139607insTTTGTCA571527560SLC22A1c.1062-47_1062-46insTTTGT (n.1062-47_1062-46insTTTGT)
c.1061+2956_1061+2957insTTTGT (n.1061+2956_1061+2957insTTTGT)
c.*535-47_*535-46insTTTGT (n.*535-47_*535-46insTTTGT)
c.486-47_486-46insTTTGT (n.486-47_486-46insTTTGT)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.160139606_160139607insTTAAATCA2681065108SLC22A1c.1062-47_1062-46insTTAAAT (n.1062-47_1062-46insTTAAAT)
c.1061+2956_1061+2957insTTAAAT (n.1061+2956_1061+2957insTTAAAT)
c.*535-47_*535-46insTTAAAT (n.*535-47_*535-46insTTAAAT)
c.486-47_486-46insTTAAAT (n.486-47_486-46insTTAAAT)
gnomAD v4
6g.160139606_160139607insTTTTGTCA2681065105SLC22A1c.1062-47_1062-46insTTTTGT (n.1062-47_1062-46insTTTTGT)
c.1061+2956_1061+2957insTTTTGT (n.1061+2956_1061+2957insTTTTGT)
c.*535-47_*535-46insTTTTGT (n.*535-47_*535-46insTTTTGT)
c.486-47_486-46insTTTTGT (n.486-47_486-46insTTTTGT)
gnomAD v4
6g.160139606_160139607insTTTAAATCA2681065106SLC22A1c.1062-47_1062-46insTTTAAAT (n.1062-47_1062-46insTTTAAAT)
c.1061+2956_1061+2957insTTTAAAT (n.1061+2956_1061+2957insTTTAAAT)
c.*535-47_*535-46insTTTAAAT (n.*535-47_*535-46insTTTAAAT)
c.486-47_486-46insTTTAAAT (n.486-47_486-46insTTTAAAT)
gnomAD v4
6g.160139606_160139607insAAATAAATCA2681065112SLC22A1c.1062-47_1062-46insAAATAAAT (n.1062-47_1062-46insAAATAAAT)
c.1061+2956_1061+2957insAAATAAAT (n.1061+2956_1061+2957insAAATAAAT)
c.*535-47_*535-46insAAATAAAT (n.*535-47_*535-46insAAATAAAT)
c.486-47_486-46insAAATAAAT (n.486-47_486-46insAAATAAAT)
gnomAD v4
6g.160139606_160139607insAATTAAATCA2681065111SLC22A1c.1062-47_1062-46insAATTAAAT (n.1062-47_1062-46insAATTAAAT)
c.1061+2956_1061+2957insAATTAAAT (n.1061+2956_1061+2957insAATTAAAT)
c.*535-47_*535-46insAATTAAAT (n.*535-47_*535-46insAATTAAAT)
c.486-47_486-46insAATTAAAT (n.486-47_486-46insAATTAAAT)
gnomAD v4
6g.160139606_160139607insTTTTTTTTTTTTTTTTGTCA2773789202SLC22A1c.1062-47_1062-46insTTTTTTTTTTTTTTTTGT (n.1062-47_1062-46insTTTTTTTTTTTTTTTTGT)
c.1061+2956_1061+2957insTTTTTTTTTTTTTTTTGT (n.1061+2956_1061+2957insTTTTTTTTTTTTTTTTGT)
c.*535-47_*535-46insTTTTTTTTTTTTTTTTGT (n.*535-47_*535-46insTTTTTTTTTTTTTTTTGT)
c.486-47_486-46insTTTTTTTTTTTTTTTTGT (n.486-47_486-46insTTTTTTTTTTTTTTTTGT)
6g.160139606_160139607insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATCA1096526628SLC22A1c.1062-47_1062-46insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAT (n.1062-47_1062-46insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAT)
c.1061+2956_1061+2957insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAT (n.1061+2956_1061+2957insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAT)
c.*535-47_*535-46insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAT (n.*535-47_*535-46insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAT)
c.486-47_486-46insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAT (n.486-47_486-46insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAT)
gnomAD v3 gnomAD v4
6g.160139606_160139607delCA2773789201SLC22A1c.1062-47_1062-46del (n.1062-47_1062-46del)
c.1061+2956_1061+2957del (n.1061+2956_1061+2957del)
c.*535-47_*535-46del (n.*535-47_*535-46del)
c.486-47_486-46del (n.486-47_486-46del)
6g.160139606_160139608delinsTCACA1676923494SLC22A1c.1062-47_1062-45delinsTCA (n.1062-47_1062-45delinsTCA)
c.1061+2956_1061+2958delinsTCA (n.1061+2956_1061+2958delinsTCA)
c.*535-47_*535-45delinsTCA (n.*535-47_*535-45delinsTCA)
c.486-47_486-45delinsTCA (n.486-47_486-45delinsTCA)
6g.160139606_160139609delinsTCAGCA1676923493SLC22A1c.1062-47_1062-44delinsTCAG (n.1062-47_1062-44delinsTCAG)
c.1061+2956_1061+2959delinsTCAG (n.1061+2956_1061+2959delinsTCAG)
c.*535-47_*535-44delinsTCAG (n.*535-47_*535-44delinsTCAG)
c.486-47_486-44delinsTCAG (n.486-47_486-44delinsTCAG)
6g.160139608_160139611delCA2681065104SLC22A1c.1062-45_1062-42del (n.1062-45_1062-42del)
c.1061+2958_1061+2961del (n.1061+2958_1061+2961del)
c.*535-45_*535-42del (n.*535-45_*535-42del)
c.486-45_486-42del (n.486-45_486-42del)
gnomAD v4
6g.160139606_160139607insTCCA2681065122SLC22A1c.1062-47_1062-46insTC (n.1062-47_1062-46insTC)
c.1061+2956_1061+2957insTC (n.1061+2956_1061+2957insTC)
c.*535-47_*535-46insTC (n.*535-47_*535-46insTC)
c.486-47_486-46insTC (n.486-47_486-46insTC)
gnomAD v4
6g.160139606_160139607insTTCCA2681065125SLC22A1c.1062-47_1062-46insTTC (n.1062-47_1062-46insTTC)
c.1061+2956_1061+2957insTTC (n.1061+2956_1061+2957insTTC)
c.*535-47_*535-46insTTC (n.*535-47_*535-46insTTC)
c.486-47_486-46insTTC (n.486-47_486-46insTTC)
gnomAD v4
6g.160139606_160139607insTTCCCA2681065123SLC22A1c.1062-47_1062-46insTTCC (n.1062-47_1062-46insTTCC)
c.1061+2956_1061+2957insTTCC (n.1061+2956_1061+2957insTTCC)
c.*535-47_*535-46insTTCC (n.*535-47_*535-46insTTCC)
c.486-47_486-46insTTCC (n.486-47_486-46insTTCC)
gnomAD v4
6g.160139606_160139607insAAGTAACA2681065121SLC22A1c.1062-47_1062-46insAAGTAA (n.1062-47_1062-46insAAGTAA)
c.1061+2956_1061+2957insAAGTAA (n.1061+2956_1061+2957insAAGTAA)
c.*535-47_*535-46insAAGTAA (n.*535-47_*535-46insAAGTAA)
c.486-47_486-46insAAGTAA (n.486-47_486-46insAAGTAA)
gnomAD v4
6g.160139607delCA2681065124SLC22A1c.1062-46del (n.1062-46del)
c.1061+2957del (n.1061+2957del)
c.*535-46del (n.*535-46del)
c.486-46del (n.486-46del)
gnomAD v4
6g.160139607C>ACA1096526636SLC22A1c.1062-46C>A (n.1062-46C>A)
c.1061+2957C>A (n.1061+2957C>A)
c.*535-46C>A (n.*535-46C>A)
c.486-46C>A (n.486-46C>A)
dbSNP gnomAD v3 gnomAD v4
6g.160139607C=CA1676923495SLC22A1c.1062-46C= (n.1062-46C=)
c.1061+2957C= (n.1061+2957C=)
c.*535-46C= (n.*535-46C=)
c.486-46C= (n.486-46C=)
6g.160139607C>GCA2681065120SLC22A1c.1062-46C>G (n.1062-46C>G)
c.1061+2957C>G (n.1061+2957C>G)
c.*535-46C>G (n.*535-46C>G)
c.486-46C>G (n.486-46C>G)
gnomAD v4
6g.160139607C>TCA4083954SLC22A1c.1062-46C>T (n.1062-46C>T)
c.1061+2957C>T (n.1061+2957C>T)
c.*535-46C>T (n.*535-46C>T)
c.486-46C>T (n.486-46C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160139607_160139608delCA571527561SLC22A1c.1062-46_1062-45del (n.1062-46_1062-45del)
c.1061+2957_1061+2958del (n.1061+2957_1061+2958del)
c.*535-46_*535-45del (n.*535-46_*535-45del)
c.486-46_486-45del (n.486-46_486-45del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.160139607_160139609delCA4083953SLC22A1c.1062-46_1062-44del (n.1062-46_1062-44del)
c.1061+2957_1061+2959del (n.1061+2957_1061+2959del)
c.*535-46_*535-44del (n.*535-46_*535-44del)
c.486-46_486-44del (n.486-46_486-44del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160139607_160139611delCA1096526634SLC22A1c.1062-46_1062-42del (n.1062-46_1062-42del)
c.1061+2957_1061+2961del (n.1061+2957_1061+2961del)
c.*535-46_*535-42del (n.*535-46_*535-42del)
c.486-46_486-42del (n.486-46_486-42del)
gnomAD v3 gnomAD v4
6g.160139607_160139613delCA571527563SLC22A1c.1062-46_1062-40del (n.1062-46_1062-40del)
c.1061+2957_1061+2963del (n.1061+2957_1061+2963del)
c.*535-46_*535-40del (n.*535-46_*535-40del)
c.486-46_486-40del (n.486-46_486-40del)
gnomAD v2 gnomAD v4
6g.160139607_160139624delCA571527562SLC22A1c.1062-46_1062-29del (n.1062-46_1062-29del)
c.1061+2957_1061+2974del (n.1061+2957_1061+2974del)
c.*535-46_*535-29del (n.*535-46_*535-29del)
c.486-46_486-29del (n.486-46_486-29del)
gnomAD v2 gnomAD v4
6g.160139608delCA1096526644SLC22A1c.1062-45del (n.1062-45del)
c.1061+2958del (n.1061+2958del)
c.*535-45del (n.*535-45del)
c.486-45del (n.486-45del)
gnomAD v3 gnomAD v4
6g.160139608A=CA1676923496SLC22A1c.1062-45A= (n.1062-45A=)
c.1061+2958A= (n.1061+2958A=)
c.*535-45A= (n.*535-45A=)
c.486-45A= (n.486-45A=)
6g.160139608A>CCA571527564SLC22A1c.1062-45A>C (n.1062-45A>C)
c.1061+2958A>C (n.1061+2958A>C)
c.*535-45A>C (n.*535-45A>C)
c.486-45A>C (n.486-45A>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.160139608A>GCA1096526645SLC22A1c.1062-45A>G (n.1062-45A>G)
c.1061+2958A>G (n.1061+2958A>G)
c.*535-45A>G (n.*535-45A>G)
c.486-45A>G (n.486-45A>G)
gnomAD v3 gnomAD v4
6g.160139608A>TCA4083955SLC22A1c.1062-45A>T (n.1062-45A>T)
c.1061+2958A>T (n.1061+2958A>T)
c.*535-45A>T (n.*535-45A>T)
c.486-45A>T (n.486-45A>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160139608_160139609insAATCA2681065126SLC22A1c.1062-45_1062-44insAAT (n.1062-45_1062-44insAAT)
c.1061+2958_1061+2959insAAT (n.1061+2958_1061+2959insAAT)
c.*535-45_*535-44insAAT (n.*535-45_*535-44insAAT)
c.486-45_486-44insAAT (n.486-45_486-44insAAT)
gnomAD v4
6g.160139608_160139609insAGTCA2773789212SLC22A1c.1062-45_1062-44insAGT (n.1062-45_1062-44insAGT)
c.1061+2958_1061+2959insAGT (n.1061+2958_1061+2959insAGT)
c.*535-45_*535-44insAGT (n.*535-45_*535-44insAGT)
c.486-45_486-44insAGT (n.486-45_486-44insAGT)
6g.160139608_160139609insTTTCA571527565SLC22A1c.1062-45_1062-44insTTT (n.1062-45_1062-44insTTT)
c.1061+2958_1061+2959insTTT (n.1061+2958_1061+2959insTTT)
c.*535-45_*535-44insTTT (n.*535-45_*535-44insTTT)
c.486-45_486-44insTTT (n.486-45_486-44insTTT)
gnomAD v2 gnomAD v3 gnomAD v4
6g.160139608_160139609insATTATCA2681065127SLC22A1c.1062-45_1062-44insATTAT (n.1062-45_1062-44insATTAT)
c.1061+2958_1061+2959insATTAT (n.1061+2958_1061+2959insATTAT)
c.*535-45_*535-44insATTAT (n.*535-45_*535-44insATTAT)
c.486-45_486-44insATTAT (n.486-45_486-44insATTAT)
gnomAD v4
6g.160139609delCA2681065128SLC22A1c.1062-44del (n.1062-44del)
c.1061+2959del (n.1061+2959del)
c.*535-44del (n.*535-44del)
c.486-44del (n.486-44del)
gnomAD v4
6g.160139609G>ACA1096526652SLC22A1c.1062-44G>A (n.1062-44G>A)
c.1061+2959G>A (n.1061+2959G>A)
c.*535-44G>A (n.*535-44G>A)
c.486-44G>A (n.486-44G>A)
gnomAD v3 gnomAD v4
6g.160139609G>CCA2550033623SLC22A1c.1062-44G>C (n.1062-44G>C)
c.1061+2959G>C (n.1061+2959G>C)
c.*535-44G>C (n.*535-44G>C)
c.486-44G>C (n.486-44G>C)
dbSNP gnomAD v4
6g.160139609G=CA1676923497SLC22A1c.1062-44G= (n.1062-44G=)
c.1061+2959G= (n.1061+2959G=)
c.*535-44G= (n.*535-44G=)
c.486-44G= (n.486-44G=)
6g.160139609G>TCA4083956SLC22A1c.1062-44G>T (n.1062-44G>T)
c.1061+2959G>T (n.1061+2959G>T)
c.*535-44G>T (n.*535-44G>T)
c.486-44G>T (n.486-44G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160139610T>ACA2681065130SLC22A1c.1062-43T>A (n.1062-43T>A)
c.1061+2960T>A (n.1061+2960T>A)
c.*535-43T>A (n.*535-43T>A)
c.486-43T>A (n.486-43T>A)
gnomAD v4
6g.160139610T>GCA2681065129SLC22A1c.1062-43T>G (n.1062-43T>G)
c.1061+2960T>G (n.1061+2960T>G)
c.*535-43T>G (n.*535-43T>G)
c.486-43T>G (n.486-43T>G)
gnomAD v4
6g.160139610_160139611insTTCA571527566SLC22A1c.1062-43_1062-42insTT (n.1062-43_1062-42insTT)
c.1061+2960_1061+2961insTT (n.1061+2960_1061+2961insTT)
c.*535-43_*535-42insTT (n.*535-43_*535-42insTT)
c.486-43_486-42insTT (n.486-43_486-42insTT)
gnomAD v2
6g.160139610_160139611insTTTTCA571527568SLC22A1c.1062-43_1062-42insTTTT (n.1062-43_1062-42insTTTT)
c.1061+2960_1061+2961insTTTT (n.1061+2960_1061+2961insTTTT)
c.*535-43_*535-42insTTTT (n.*535-43_*535-42insTTTT)
c.486-43_486-42insTTTT (n.486-43_486-42insTTTT)
gnomAD v2 gnomAD v3 gnomAD v4
6g.160139610_160139611insTTTTTCA571527567SLC22A1c.1062-43_1062-42insTTTTT (n.1062-43_1062-42insTTTTT)
c.1061+2960_1061+2961insTTTTT (n.1061+2960_1061+2961insTTTTT)
c.*535-43_*535-42insTTTTT (n.*535-43_*535-42insTTTTT)
c.486-43_486-42insTTTTT (n.486-43_486-42insTTTTT)
gnomAD v2 gnomAD v3 gnomAD v4
6g.160139610_160139611insTTTTTTCA1096526662SLC22A1c.1062-43_1062-42insTTTTTT (n.1062-43_1062-42insTTTTTT)
c.1061+2960_1061+2961insTTTTTT (n.1061+2960_1061+2961insTTTTTT)
c.*535-43_*535-42insTTTTTT (n.*535-43_*535-42insTTTTTT)
c.486-43_486-42insTTTTTT (n.486-43_486-42insTTTTTT)
gnomAD v3 gnomAD v4
6g.160139610_160139611insTTTTTTTCA1096526665SLC22A1c.1062-43_1062-42insTTTTTTT (n.1062-43_1062-42insTTTTTTT)
c.1061+2960_1061+2961insTTTTTTT (n.1061+2960_1061+2961insTTTTTTT)
c.*535-43_*535-42insTTTTTTT (n.*535-43_*535-42insTTTTTTT)
c.486-43_486-42insTTTTTTT (n.486-43_486-42insTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139610_160139611insTTTTTTTTTCA1096526666SLC22A1c.1062-43_1062-42insTTTTTTTTT (n.1062-43_1062-42insTTTTTTTTT)
c.1061+2960_1061+2961insTTTTTTTTT (n.1061+2960_1061+2961insTTTTTTTTT)
c.*535-43_*535-42insTTTTTTTTT (n.*535-43_*535-42insTTTTTTTTT)
c.486-43_486-42insTTTTTTTTT (n.486-43_486-42insTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139610_160139611insTTTTTTTTTTTTTCA1096526667SLC22A1c.1062-43_1062-42insTTTTTTTTTTTTT (n.1062-43_1062-42insTTTTTTTTTTTTT)
c.1061+2960_1061+2961insTTTTTTTTTTTTT (n.1061+2960_1061+2961insTTTTTTTTTTTTT)
c.*535-43_*535-42insTTTTTTTTTTTTT (n.*535-43_*535-42insTTTTTTTTTTTTT)
c.486-43_486-42insTTTTTTTTTTTTT (n.486-43_486-42insTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.160139610dupCA1096526658SLC22A1c.1062-43dup (n.1062-43dup)
c.1061+2960dup (n.1061+2960dup)
c.*535-43dup (n.*535-43dup)
c.486-43dup (n.486-43dup)
gnomAD v3 gnomAD v4
6g.160139611_160139614delCA2681065131SLC22A1c.1062-42_1062-39del (n.1062-42_1062-39del)
c.1061+2961_1061+2964del (n.1061+2961_1061+2964del)
c.*535-42_*535-39del (n.*535-42_*535-39del)
c.486-42_486-39del (n.486-42_486-39del)
gnomAD v4
6g.160139611C>ACA1096526671SLC22A1c.1062-42C>A (n.1062-42C>A)
c.1061+2961C>A (n.1061+2961C>A)
c.*535-42C>A (n.*535-42C>A)
c.486-42C>A (n.486-42C>A)
dbSNP gnomAD v3 gnomAD v4
6g.160139611C=CA1676923498SLC22A1c.1062-42C= (n.1062-42C=)
c.1061+2961C= (n.1061+2961C=)
c.*535-42C= (n.*535-42C=)
c.486-42C= (n.486-42C=)
6g.160139611C>GCA2681065134SLC22A1c.1062-42C>G (n.1062-42C>G)
c.1061+2961C>G (n.1061+2961C>G)
c.*535-42C>G (n.*535-42C>G)
c.486-42C>G (n.486-42C>G)
gnomAD v4
6g.160139611C>TCA4083957SLC22A1c.1062-42C>T (n.1062-42C>T)
c.1061+2961C>T (n.1061+2961C>T)
c.*535-42C>T (n.*535-42C>T)
c.486-42C>T (n.486-42C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160139611_160139613delCA2681065132SLC22A1c.1062-42_1062-40del (n.1062-42_1062-40del)
c.1061+2961_1061+2963del (n.1061+2961_1061+2963del)
c.*535-42_*535-40del (n.*535-42_*535-40del)
c.486-42_486-40del (n.486-42_486-40del)
gnomAD v4
6g.160139612T>ACA2605745920SLC22A1c.1062-41T>A (n.1062-41T>A)
c.1061+2962T>A (n.1061+2962T>A)
c.*535-41T>A (n.*535-41T>A)
c.486-41T>A (n.486-41T>A)
gnomAD v3 gnomAD v4
6g.160139612T>CCA2681065135SLC22A1c.1062-41T>C (n.1062-41T>C)
c.1061+2962T>C (n.1061+2962T>C)
c.*535-41T>C (n.*535-41T>C)
c.486-41T>C (n.486-41T>C)
gnomAD v4
6g.160139612T>GCA2578788884SLC22A1c.1062-41T>G (n.1062-41T>G)
c.1061+2962T>G (n.1061+2962T>G)
c.*535-41T>G (n.*535-41T>G)
c.486-41T>G (n.486-41T>G)
gnomAD v4
6g.160139613C>ACA2578788885SLC22A1c.1062-40C>A (n.1062-40C>A)
c.1061+2963C>A (n.1061+2963C>A)
c.*535-40C>A (n.*535-40C>A)
c.486-40C>A (n.486-40C>A)
dbSNP gnomAD v3 gnomAD v4
6g.160139613C=CA1676923499SLC22A1c.1062-40C= (n.1062-40C=)
c.1061+2963C= (n.1061+2963C=)
c.*535-40C= (n.*535-40C=)
c.486-40C= (n.486-40C=)
6g.160139613C>GCA2681065136SLC22A1c.1062-40C>G (n.1062-40C>G)
c.1061+2963C>G (n.1061+2963C>G)
c.*535-40C>G (n.*535-40C>G)
c.486-40C>G (n.486-40C>G)
gnomAD v4
6g.160139613C>TCA571527569SLC22A1c.1062-40C>T (n.1062-40C>T)
c.1061+2963C>T (n.1061+2963C>T)
c.*535-40C>T (n.*535-40C>T)
c.486-40C>T (n.486-40C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.160139614T>ACA2681065137SLC22A1c.1062-39T>A (n.1062-39T>A)
c.1061+2964T>A (n.1061+2964T>A)
c.*535-39T>A (n.*535-39T>A)
c.486-39T>A (n.486-39T>A)
gnomAD v4
6g.160139614T>CCA2681065138SLC22A1c.1062-39T>C (n.1062-39T>C)
c.1061+2964T>C (n.1061+2964T>C)
c.*535-39T>C (n.*535-39T>C)
c.486-39T>C (n.486-39T>C)
gnomAD v4
6g.160139614T>GCA2681065139SLC22A1c.1062-39T>G (n.1062-39T>G)
c.1061+2964T>G (n.1061+2964T>G)
c.*535-39T>G (n.*535-39T>G)
c.486-39T>G (n.486-39T>G)
gnomAD v4
6g.160139615G>ACA1676923501SLC22A1c.1062-38G>A (n.1062-38G>A)
c.1061+2965G>A (n.1061+2965G>A)
c.*535-38G>A (n.*535-38G>A)
c.486-38G>A (n.486-38G>A)
dbSNP gnomAD v4
6g.160139615G=CA1676923500SLC22A1c.1062-38G= (n.1062-38G=)
c.1061+2965G= (n.1061+2965G=)
c.*535-38G= (n.*535-38G=)
c.486-38G= (n.486-38G=)
6g.160139615G>TCA1096526676SLC22A1c.1062-38G>T (n.1062-38G>T)
c.1061+2965G>T (n.1061+2965G>T)
c.*535-38G>T (n.*535-38G>T)
c.486-38G>T (n.486-38G>T)
dbSNP gnomAD v3 gnomAD v4
6g.160139616A>CCA1096526677SLC22A1c.1062-37A>C (n.1062-37A>C)
c.1061+2966A>C (n.1061+2966A>C)
c.*535-37A>C (n.*535-37A>C)
c.486-37A>C (n.486-37A>C)
gnomAD v3 gnomAD v4
6g.160139616A>GCA2543428344SLC22A1c.1062-37A>G (n.1062-37A>G)
c.1061+2966A>G (n.1061+2966A>G)
c.*535-37A>G (n.*535-37A>G)
c.486-37A>G (n.486-37A>G)
6g.160139616A>TCA1096526678SLC22A1c.1062-37A>T (n.1062-37A>T)
c.1061+2966A>T (n.1061+2966A>T)
c.*535-37A>T (n.*535-37A>T)
c.486-37A>T (n.486-37A>T)
gnomAD v3 gnomAD v4
6g.160139617C>ACA2578788886SLC22A1c.1062-36C>A (n.1062-36C>A)
c.1061+2967C>A (n.1061+2967C>A)
c.*535-36C>A (n.*535-36C>A)
c.486-36C>A (n.486-36C>A)
gnomAD v3 gnomAD v4
6g.160139617C>TCA2773789220SLC22A1c.1062-36C>T (n.1062-36C>T)
c.1061+2967C>T (n.1061+2967C>T)
c.*535-36C>T (n.*535-36C>T)
c.486-36C>T (n.486-36C>T)
6g.160139618T>ACA2681065140SLC22A1c.1062-35T>A (n.1062-35T>A)
c.1061+2968T>A (n.1061+2968T>A)
c.*535-35T>A (n.*535-35T>A)
c.486-35T>A (n.486-35T>A)
gnomAD v4
6g.160139618T>CCA2681065141SLC22A1c.1062-35T>C (n.1062-35T>C)
c.1061+2968T>C (n.1061+2968T>C)
c.*535-35T>C (n.*535-35T>C)
c.486-35T>C (n.486-35T>C)
gnomAD v4
6g.160139618T>GCA4083958SLC22A1c.1062-35T>G (n.1062-35T>G)
c.1061+2968T>G (n.1061+2968T>G)
c.*535-35T>G (n.*535-35T>G)
c.486-35T>G (n.486-35T>G)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.160139618T=CA1676923502SLC22A1c.1062-35T= (n.1062-35T=)
c.1061+2968T= (n.1061+2968T=)
c.*535-35T= (n.*535-35T=)
c.486-35T= (n.486-35T=)
6g.160139619C>ACA2681065142SLC22A1c.1062-34C>A (n.1062-34C>A)
c.1061+2969C>A (n.1061+2969C>A)
c.*535-34C>A (n.*535-34C>A)
c.486-34C>A (n.486-34C>A)
gnomAD v4
6g.160139620A>CCA1096526681SLC22A1c.1062-33A>C (n.1062-33A>C)
c.1061+2970A>C (n.1061+2970A>C)
c.*535-33A>C (n.*535-33A>C)
c.486-33A>C (n.486-33A>C)
gnomAD v3 gnomAD v4
6g.160139620A>GCA2578788887SLC22A1c.1062-33A>G (n.1062-33A>G)
c.1061+2970A>G (n.1061+2970A>G)
c.*535-33A>G (n.*535-33A>G)
c.486-33A>G (n.486-33A>G)
gnomAD v4
6g.160139620A>TCA1096526682SLC22A1c.1062-33A>T (n.1062-33A>T)
c.1061+2970A>T (n.1061+2970A>T)
c.*535-33A>T (n.*535-33A>T)
c.486-33A>T (n.486-33A>T)
gnomAD v3 gnomAD v4
6g.160139621T>ACA2681065143SLC22A1c.1062-32T>A (n.1062-32T>A)
c.1061+2971T>A (n.1061+2971T>A)
c.*535-32T>A (n.*535-32T>A)
c.486-32T>A (n.486-32T>A)
gnomAD v4
6g.160139622G>ACA2681065144SLC22A1c.1062-31G>A (n.1062-31G>A)
c.1061+2972G>A (n.1061+2972G>A)
c.*535-31G>A (n.*535-31G>A)
c.486-31G>A (n.486-31G>A)
gnomAD v4
6g.160139622G=CA1676923503SLC22A1c.1062-31G= (n.1062-31G=)
c.1061+2972G= (n.1061+2972G=)
c.*535-31G= (n.*535-31G=)
c.486-31G= (n.486-31G=)
6g.160139622G>TCA1096526684SLC22A1c.1062-31G>T (n.1062-31G>T)
c.1061+2972G>T (n.1061+2972G>T)
c.*535-31G>T (n.*535-31G>T)
c.486-31G>T (n.486-31G>T)
dbSNP gnomAD v3 gnomAD v4
6g.160139623C>ACA2578788888SLC22A1c.1062-30C>A (n.1062-30C>A)
c.1061+2973C>A (n.1061+2973C>A)
c.*535-30C>A (n.*535-30C>A)
c.486-30C>A (n.486-30C>A)
gnomAD v4
6g.160139623C=CA1676923504SLC22A1c.1062-30C= (n.1062-30C=)
c.1061+2973C= (n.1061+2973C=)
c.*535-30C= (n.*535-30C=)
c.486-30C= (n.486-30C=)
6g.160139623C>GCA4083959SLC22A1c.1062-30C>G (n.1062-30C>G)
c.1061+2973C>G (n.1061+2973C>G)
c.*535-30C>G (n.*535-30C>G)
c.486-30C>G (n.486-30C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160139623C>TCA571527570SLC22A1c.1062-30C>T (n.1062-30C>T)
c.1061+2973C>T (n.1061+2973C>T)
c.*535-30C>T (n.*535-30C>T)
c.486-30C>T (n.486-30C>T)
dbSNP gnomAD v2 gnomAD v4
6g.160139624C>ACA2578788889SLC22A1c.1062-29C>A (n.1062-29C>A)
c.1061+2974C>A (n.1061+2974C>A)
c.*535-29C>A (n.*535-29C>A)
c.486-29C>A (n.486-29C>A)
gnomAD v4
6g.160139625T>ACA2681065146SLC22A1c.1062-28T>A (n.1062-28T>A)
c.1061+2975T>A (n.1061+2975T>A)
c.*535-28T>A (n.*535-28T>A)
c.486-28T>A (n.486-28T>A)
gnomAD v4
6g.160139625T>CCA2681065147SLC22A1c.1062-28T>C (n.1062-28T>C)
c.1061+2975T>C (n.1061+2975T>C)
c.*535-28T>C (n.*535-28T>C)
c.486-28T>C (n.486-28T>C)
gnomAD v4
6g.160139625T>GCA2681065148SLC22A1c.1062-28T>G (n.1062-28T>G)
c.1061+2975T>G (n.1061+2975T>G)
c.*535-28T>G (n.*535-28T>G)
c.486-28T>G (n.486-28T>G)
gnomAD v4
6g.160139627delCA2681065145SLC22A1c.1062-26del (n.1062-26del)
c.1061+2977del (n.1061+2977del)
c.*535-26del (n.*535-26del)
c.486-26del (n.486-26del)
gnomAD v4
6g.160139626T>CCA571527571SLC22A1c.1062-27T>C (n.1062-27T>C)
c.1061+2976T>C (n.1061+2976T>C)
c.*535-27T>C (n.*535-27T>C)
c.486-27T>C (n.486-27T>C)
dbSNP gnomAD v2 gnomAD v4
6g.160139626T>GCA2681065149SLC22A1c.1062-27T>G (n.1062-27T>G)
c.1061+2976T>G (n.1061+2976T>G)
c.*535-27T>G (n.*535-27T>G)
c.486-27T>G (n.486-27T>G)
gnomAD v4
6g.160139626T=CA1676923505SLC22A1c.1062-27T= (n.1062-27T=)
c.1061+2976T= (n.1061+2976T=)
c.*535-27T= (n.*535-27T=)
c.486-27T= (n.486-27T=)
6g.160139627T>CCA2681065150SLC22A1c.1062-26T>C (n.1062-26T>C)
c.1061+2977T>C (n.1061+2977T>C)
c.*535-26T>C (n.*535-26T>C)
c.486-26T>C (n.486-26T>C)
gnomAD v4
6g.160139628delCA2681065151SLC22A1c.1062-25del (n.1062-25del)
c.1061+2978del (n.1061+2978del)
c.*535-25del (n.*535-25del)
c.486-25del (n.486-25del)
gnomAD v4
6g.160139628G=CA1676923506SLC22A1c.1062-25G= (n.1062-25G=)
c.1061+2978G= (n.1061+2978G=)
c.*535-25G= (n.*535-25G=)
c.486-25G= (n.486-25G=)
6g.160139628G>TCA1096526689SLC22A1c.1062-25G>T (n.1062-25G>T)
c.1061+2978G>T (n.1061+2978G>T)
c.*535-25G>T (n.*535-25G>T)
c.486-25G>T (n.486-25G>T)
dbSNP gnomAD v3 gnomAD v4
6g.160139629A>GCA2681065152SLC22A1c.1062-24A>G (n.1062-24A>G)
c.1061+2979A>G (n.1061+2979A>G)
c.*535-24A>G (n.*535-24A>G)
c.486-24A>G (n.486-24A>G)
gnomAD v4
6g.160139629A>TCA1096526691SLC22A1c.1062-24A>T (n.1062-24A>T)
c.1061+2979A>T (n.1061+2979A>T)
c.*535-24A>T (n.*535-24A>T)
c.486-24A>T (n.486-24A>T)
gnomAD v3 gnomAD v4
6g.160139630C>ACA2681065153SLC22A1c.1062-23C>A (n.1062-23C>A)
c.1061+2980C>A (n.1061+2980C>A)
c.*535-23C>A (n.*535-23C>A)
c.486-23C>A (n.486-23C>A)
gnomAD v4
6g.160139630C=CA1676923507SLC22A1c.1062-23C= (n.1062-23C=)
c.1061+2980C= (n.1061+2980C=)
c.*535-23C= (n.*535-23C=)
c.486-23C= (n.486-23C=)
6g.160139630C>GCA4083960SLC22A1c.1062-23C>G (n.1062-23C>G)
c.1061+2980C>G (n.1061+2980C>G)
c.*535-23C>G (n.*535-23C>G)
c.486-23C>G (n.486-23C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160139630C>TCA2773789221SLC22A1c.1062-23C>T (n.1062-23C>T)
c.1061+2980C>T (n.1061+2980C>T)
c.*535-23C>T (n.*535-23C>T)
c.486-23C>T (n.486-23C>T)
6g.160139631T>CCA2681065154SLC22A1c.1062-22T>C (n.1062-22T>C)
c.1061+2981T>C (n.1061+2981T>C)
c.*535-22T>C (n.*535-22T>C)
c.486-22T>C (n.486-22T>C)
gnomAD v4
6g.160139631T>GCA2681065155SLC22A1c.1062-22T>G (n.1062-22T>G)
c.1061+2981T>G (n.1061+2981T>G)
c.*535-22T>G (n.*535-22T>G)
c.486-22T>G (n.486-22T>G)
gnomAD v4
6g.160139632T>ACA571527572SLC22A1c.1062-21T>A (n.1062-21T>A)
c.1061+2982T>A (n.1061+2982T>A)
c.*535-21T>A (n.*535-21T>A)
c.486-21T>A (n.486-21T>A)
dbSNP gnomAD v2 gnomAD v4
6g.160139632T>CCA2681065156SLC22A1c.1062-21T>C (n.1062-21T>C)
c.1061+2982T>C (n.1061+2982T>C)
c.*535-21T>C (n.*535-21T>C)
c.486-21T>C (n.486-21T>C)
gnomAD v4
6g.160139632T=CA1676923508SLC22A1c.1062-21T= (n.1062-21T=)
c.1061+2982T= (n.1061+2982T=)
c.*535-21T= (n.*535-21T=)
c.486-21T= (n.486-21T=)
6g.160139633G>ACA2681065157SLC22A1c.1062-20G>A (n.1062-20G>A)
c.1061+2983G>A (n.1061+2983G>A)
c.*535-20G>A (n.*535-20G>A)
c.486-20G>A (n.486-20G>A)
gnomAD v4
6g.160139633G=CA1676923509SLC22A1c.1062-20G= (n.1062-20G=)
c.1061+2983G= (n.1061+2983G=)
c.*535-20G= (n.*535-20G=)
c.486-20G= (n.486-20G=)
6g.160139633G>TCA1096526696SLC22A1c.1062-20G>T (n.1062-20G>T)
c.1061+2983G>T (n.1061+2983G>T)
c.*535-20G>T (n.*535-20G>T)
c.486-20G>T (n.486-20G>T)
dbSNP gnomAD v3 gnomAD v4
6g.160139634A=CA1676923510SLC22A1c.1062-19A= (n.1062-19A=)
c.1061+2984A= (n.1061+2984A=)
c.*535-19A= (n.*535-19A=)
c.486-19A= (n.486-19A=)
6g.160139634A>CCA4083961SLC22A1c.1062-19A>C (n.1062-19A>C)
c.1061+2984A>C (n.1061+2984A>C)
c.*535-19A>C (n.*535-19A>C)
c.486-19A>C (n.486-19A>C)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.160139634A>GCA2681065159SLC22A1c.1062-19A>G (n.1062-19A>G)
c.1061+2984A>G (n.1061+2984A>G)
c.*535-19A>G (n.*535-19A>G)
c.486-19A>G (n.486-19A>G)
gnomAD v4
6g.160139634A>TCA2681065158SLC22A1c.1062-19A>T (n.1062-19A>T)
c.1061+2984A>T (n.1061+2984A>T)
c.*535-19A>T (n.*535-19A>T)
c.486-19A>T (n.486-19A>T)
gnomAD v4
6g.160139635A>CCA2681065160SLC22A1c.1062-18A>C (n.1062-18A>C)
c.1061+2985A>C (n.1061+2985A>C)
c.*535-18A>C (n.*535-18A>C)
c.486-18A>C (n.486-18A>C)
gnomAD v4
6g.160139635A>GCA2681065161SLC22A1c.1062-18A>G (n.1062-18A>G)
c.1061+2985A>G (n.1061+2985A>G)
c.*535-18A>G (n.*535-18A>G)
c.486-18A>G (n.486-18A>G)
gnomAD v4
6g.160139636A=CA1676923511SLC22A1c.1062-17A= (n.1062-17A=)
c.1061+2986A= (n.1061+2986A=)
c.*535-17A= (n.*535-17A=)
c.486-17A= (n.486-17A=)
6g.160139636A>CCA1096526700SLC22A1c.1062-17A>C (n.1062-17A>C)
c.1061+2986A>C (n.1061+2986A>C)
c.*535-17A>C (n.*535-17A>C)
c.486-17A>C (n.486-17A>C)
dbSNP gnomAD v3 gnomAD v4
6g.160139636A>GCA1096526699SLC22A1c.1062-17A>G (n.1062-17A>G)
c.1061+2986A>G (n.1061+2986A>G)
c.*535-17A>G (n.*535-17A>G)
c.486-17A>G (n.486-17A>G)
gnomAD v3 gnomAD v4
6g.160139636A>TCA1096526701SLC22A1c.1062-17A>T (n.1062-17A>T)
c.1061+2986A>T (n.1061+2986A>T)
c.*535-17A>T (n.*535-17A>T)
c.486-17A>T (n.486-17A>T)
gnomAD v3 gnomAD v4
6g.160139637C>ACA2681065163SLC22A1c.1062-16C>A (n.1062-16C>A)
c.1061+2987C>A (n.1061+2987C>A)
c.*535-16C>A (n.*535-16C>A)
c.486-16C>A (n.486-16C>A)
gnomAD v4
6g.160139637C>TCA2681065164SLC22A1c.1062-16C>T (n.1062-16C>T)
c.1061+2987C>T (n.1061+2987C>T)
c.*535-16C>T (n.*535-16C>T)
c.486-16C>T (n.486-16C>T)
gnomAD v4
6g.160139641_160139643delCA2681065162SLC22A1c.1062-12_1062-10del (n.1062-12_1062-10del)
c.1061+2991_1061+2993del (n.1061+2991_1061+2993del)
c.*535-12_*535-10del (n.*535-12_*535-10del)
c.486-12_486-10del (n.486-12_486-10del)
gnomAD v4
6g.160139638C>ACA2681065165SLC22A1c.1062-15C>A (n.1062-15C>A)
c.1061+2988C>A (n.1061+2988C>A)
c.*535-15C>A (n.*535-15C>A)
c.486-15C>A (n.486-15C>A)
gnomAD v4
6g.160139638C=CA1676923512SLC22A1c.1062-15C= (n.1062-15C=)
c.1061+2988C= (n.1061+2988C=)
c.*535-15C= (n.*535-15C=)
c.486-15C= (n.486-15C=)
6g.160139638C>TCA571527573SLC22A1c.1062-15C>T (n.1062-15C>T)
c.1061+2988C>T (n.1061+2988C>T)
c.*535-15C>T (n.*535-15C>T)
c.486-15C>T (n.486-15C>T)
dbSNP gnomAD v2 gnomAD v4
6g.160139639T>ACA2681065166SLC22A1c.1062-14T>A (n.1062-14T>A)
c.1061+2989T>A (n.1061+2989T>A)
c.*535-14T>A (n.*535-14T>A)
c.486-14T>A (n.486-14T>A)
gnomAD v4
6g.160139639T>CCA2681065167SLC22A1c.1062-14T>C (n.1062-14T>C)
c.1061+2989T>C (n.1061+2989T>C)
c.*535-14T>C (n.*535-14T>C)
c.486-14T>C (n.486-14T>C)
gnomAD v4
6g.160139640C>ACA2681065168SLC22A1c.1062-13C>A (n.1062-13C>A)
c.1061+2990C>A (n.1061+2990C>A)
c.*535-13C>A (n.*535-13C>A)
c.486-13C>A (n.486-13C>A)
gnomAD v4
6g.160139640C=CA1676923513SLC22A1c.1062-13C= (n.1062-13C=)
c.1061+2990C= (n.1061+2990C=)
c.*535-13C= (n.*535-13C=)
c.486-13C= (n.486-13C=)
6g.160139640C>TCA151158116SLC22A1c.1062-13C>T (n.1062-13C>T)
c.1061+2990C>T (n.1061+2990C>T)
c.*535-13C>T (n.*535-13C>T)
c.486-13C>T (n.486-13C>T)
dbSNP
6g.160139641C>ACA2578788890SLC22A1c.1062-12C>A (n.1062-12C>A)
c.1061+2991C>A (n.1061+2991C>A)
c.*535-12C>A (n.*535-12C>A)
c.486-12C>A (n.486-12C>A)
gnomAD v4
6g.160139641C=CA1676923514SLC22A1c.1062-12C= (n.1062-12C=)
c.1061+2991C= (n.1061+2991C=)
c.*535-12C= (n.*535-12C=)
c.486-12C= (n.486-12C=)
6g.160139641C>TCA1676923515SLC22A1c.1062-12C>T (n.1062-12C>T)
c.1061+2991C>T (n.1061+2991C>T)
c.*535-12C>T (n.*535-12C>T)
c.486-12C>T (n.486-12C>T)
dbSNP gnomAD v4
6g.160139642T>ACA2681065169SLC22A1c.1062-11T>A (n.1062-11T>A)
c.1061+2992T>A (n.1061+2992T>A)
c.*535-11T>A (n.*535-11T>A)
c.486-11T>A (n.486-11T>A)
gnomAD v4
6g.160139643C>ACA2681065170SLC22A1c.1062-10C>A (n.1062-10C>A)
c.1061+2993C>A (n.1061+2993C>A)
c.*535-10C>A (n.*535-10C>A)
c.486-10C>A (n.486-10C>A)
gnomAD v4
6g.160139645delCA2681065171SLC22A1c.1062-8del (n.1062-8del)
c.1061+2995del (n.1061+2995del)
c.*535-8del (n.*535-8del)
c.486-8del (n.486-8del)
gnomAD v4
6g.160139646G>TCA2605745924SLC22A1c.1062-7G>T (n.1062-7G>T)
c.1061+2996G>T (n.1061+2996G>T)
c.*535-7G>T (n.*535-7G>T)
c.486-7G>T (n.486-7G>T)
gnomAD v3 gnomAD v4
6g.160139647G>CCA1676923517SLC22A1c.1062-6G>C (n.1062-6G>C)
c.1061+2997G>C (n.1061+2997G>C)
c.*535-6G>C (n.*535-6G>C)
c.486-6G>C (n.486-6G>C)
dbSNP
6g.160139647G=CA1676923516SLC22A1c.1062-6G= (n.1062-6G=)
c.1061+2997G= (n.1061+2997G=)
c.*535-6G= (n.*535-6G=)
c.486-6G= (n.486-6G=)
6g.160139647G>TCA2681065172SLC22A1c.1062-6G>T (n.1062-6G>T)
c.1061+2997G>T (n.1061+2997G>T)
c.*535-6G>T (n.*535-6G>T)
c.486-6G>T (n.486-6G>T)
gnomAD v4
6g.160139648C>ACA2681065173SLC22A1c.1062-5C>A (n.1062-5C>A)
c.1061+2998C>A (n.1061+2998C>A)
c.*535-5C>A (n.*535-5C>A)
c.486-5C>A (n.486-5C>A)
gnomAD v4
6g.160139648C=CA1676923518SLC22A1c.1062-5C= (n.1062-5C=)
c.1061+2998C= (n.1061+2998C=)
c.*535-5C= (n.*535-5C=)
c.486-5C= (n.486-5C=)
6g.160139648C>GCA4083962SLC22A1c.1062-5C>G (n.1062-5C>G)
c.1061+2998C>G (n.1061+2998C>G)
c.*535-5C>G (n.*535-5C>G)
c.486-5C>G (n.486-5C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160139649T>CCA2681065174SLC22A1c.1062-4T>C (n.1062-4T>C)
c.1061+2999T>C (n.1061+2999T>C)
c.*535-4T>C (n.*535-4T>C)
c.486-4T>C (n.486-4T>C)
gnomAD v4
6g.160139650C>ACA2605745925SLC22A1c.1062-3C>A (n.1062-3C>A)
c.1061+3000C>A (n.1061+3000C>A)
c.*535-3C>A (n.*535-3C>A)
c.486-3C>A (n.486-3C>A)
gnomAD v3 gnomAD v4
6g.160139650C=CA1676923519SLC22A1c.1062-3C= (n.1062-3C=)
c.1061+3000C= (n.1061+3000C=)
c.*535-3C= (n.*535-3C=)
c.486-3C= (n.486-3C=)
6g.160139650C>GCA4083963SLC22A1c.1062-3C>G (n.1062-3C>G)
c.1061+3000C>G (n.1061+3000C>G)
c.*535-3C>G (n.*535-3C>G)
c.486-3C>G (n.486-3C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160139650_160139651delCA2578788891SLC22A1c.1062-3_1062-2del (n.1062-3_1062-2del)
c.1061+3000_1061+3001del (n.1061+3000_1061+3001del)
c.*535-3_*535-2del (n.*535-3_*535-2del)
c.486-3_486-2del (n.486-3_486-2del)
6g.160139651A>CCA366328080SLC22A1c.1062-2A>C (n.1062-2A>C)
c.1061+3001A>C (n.1061+3001A>C)
c.*535-2A>C (n.*535-2A>C)
c.486-2A>C (n.486-2A>C)
6g.160139651A>GCA366328078SLC22A1c.1062-2A>G (n.1062-2A>G)
c.1061+3001A>G (n.1061+3001A>G)
c.*535-2A>G (n.*535-2A>G)
c.486-2A>G (n.486-2A>G)
gnomAD v4
6g.160139651A>TCA366328076SLC22A1c.1062-2A>T (n.1062-2A>T)
c.1061+3001A>T (n.1061+3001A>T)
c.*535-2A>T (n.*535-2A>T)
c.486-2A>T (n.486-2A>T)
6g.160139652G>ACA366328082SLC22A1c.1062-1G>A (n.1062-1G>A)
c.1061+3002G>A (n.1061+3002G>A)
c.*535-1G>A (n.*535-1G>A)
c.486-1G>A (n.486-1G>A)
6g.160139652G>CCA366328084SLC22A1c.1062-1G>C (n.1062-1G>C)
c.1061+3002G>C (n.1061+3002G>C)
c.*535-1G>C (n.*535-1G>C)
c.486-1G>C (n.486-1G>C)
dbSNP
6g.160139652G=CA1676923520SLC22A1c.1062-1G= (n.1062-1G=)
c.1061+3002G= (n.1061+3002G=)
c.*535-1G= (n.*535-1G=)
c.486-1G= (n.486-1G=)
6g.160139652G>TCA366328085SLC22A1c.1062-1G>T (n.1062-1G>T)
c.1061+3002G>T (n.1061+3002G>T)
c.*535-1G>T (n.*535-1G>T)
c.486-1G>T (n.486-1G>T)
6g.160139653delCA2681065175SLC22A1c.1062del
c.1061+3003del (n.1061+3003del)
c.*535del
c.486del
gnomAD v4
6g.160139653G>ACA366328087SLC22A1c.1062G>A (p.Trp354Ter)
c.1061+3003G>A (n.1061+3003G>A)
c.*535G>A (n.*535G>A)
c.486G>A (p.Trp162Ter)
6g.160139653G>CCA366328089SLC22A1c.1062G>C (p.Trp354Cys)
c.1061+3003G>C (n.1061+3003G>C)
c.*535G>C (n.*535G>C)
c.486G>C (p.Trp162Cys)
6g.160139653G>TCA366328091SLC22A1c.1062G>T (p.Trp354Cys)
c.1061+3003G>T (n.1061+3003G>T)
c.*535G>T (n.*535G>T)
c.486G>T (p.Trp162Cys)
6g.160139654T>ACA366328093SLC22A1c.1063T>A (p.Phe355Ile)
c.1061+3004T>A (n.1061+3004T>A)
c.*536T>A (n.*536T>A)
c.487T>A (p.Phe163Ile)
dbSNP
6g.160139654T>CCA366328095SLC22A1c.1063T>C (p.Phe355Leu)
c.1061+3004T>C (n.1061+3004T>C)
c.*536T>C (n.*536T>C)
c.487T>C (p.Phe163Leu)
dbSNP
6g.160139654T>GCA366328097SLC22A1c.1063T>G (p.Phe355Val)
c.1061+3004T>G (n.1061+3004T>G)
c.*536T>G (n.*536T>G)
c.487T>G (p.Phe163Val)
gnomAD v4
6g.160139654T=CA1676923521SLC22A1c.1063T= (p.Phe355=)
c.1061+3004T= (n.1061+3004T=)
c.*536T= (n.*536T=)
c.487T= (p.Phe163=)
6g.160139655T>ACA366328099SLC22A1c.1064T>A (p.Phe355Tyr)
c.1061+3005T>A (n.1061+3005T>A)
c.*537T>A (n.*537T>A)
c.488T>A (p.Phe163Tyr)
6g.160139655T>CCA366328101SLC22A1c.1064T>C (p.Phe355Ser)
c.1061+3005T>C (n.1061+3005T>C)
c.*537T>C (n.*537T>C)
c.488T>C (p.Phe163Ser)
6g.160139655T>GCA366328103SLC22A1c.1064T>G (p.Phe355Cys)
c.1061+3005T>G (n.1061+3005T>G)
c.*537T>G (n.*537T>G)
c.488T>G (p.Phe163Cys)
6g.160139656C>ACA366328108SLC22A1c.1065C>A (p.Phe355Leu)
c.1061+3006C>A (n.1061+3006C>A)
c.*538C>A (n.*538C>A)
c.489C>A (p.Phe163Leu)
gnomAD v4
6g.160139656C=CA1676923522SLC22A1c.1065C= (p.Phe355=)
c.1061+3006C= (n.1061+3006C=)
c.*538C= (n.*538C=)
c.489C= (p.Phe163=)
6g.160139656C>GCA366328106SLC22A1c.1065C>G (p.Phe355Leu)
c.1061+3006C>G (n.1061+3006C>G)
c.*538C>G (n.*538C>G)
c.489C>G (p.Phe163Leu)
6g.160139656C>TCA4083964SLC22A1c.1065C>T (p.Phe355=)
c.1061+3006C>T (n.1061+3006C>T)
c.*538C>T (n.*538C>T)
c.489C>T (p.Phe163=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160139657A=CA1676923523SLC22A1c.1066A= (p.Thr356=)
c.1061+3007A= (n.1061+3007A=)
c.*539A= (n.*539A=)
c.490A= (p.Thr164=)
6g.160139657A>CCA366328110SLC22A1c.1066A>C (p.Thr356Pro)
c.1061+3007A>C (n.1061+3007A>C)
c.*539A>C (n.*539A>C)
c.490A>C (p.Thr164Pro)
6g.160139657A>GCA366328112SLC22A1c.1066A>G (p.Thr356Ala)
c.1061+3007A>G (n.1061+3007A>G)
c.*539A>G (n.*539A>G)
c.490A>G (p.Thr164Ala)
6g.160139657A>TCA4083965SLC22A1c.1066A>T (p.Thr356Ser)
c.1061+3007A>T (n.1061+3007A>T)
c.*539A>T (n.*539A>T)
c.490A>T (p.Thr164Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.160139658C>ACA366328115SLC22A1c.1067C>A (p.Thr356Lys)
c.1061+3008C>A (n.1061+3008C>A)
c.*540C>A (n.*540C>A)
c.491C>A (p.Thr164Lys)
6g.160139658C=CA1676923524SLC22A1c.1067C= (p.Thr356=)
c.1061+3008C= (n.1061+3008C=)
c.*540C= (n.*540C=)
c.491C= (p.Thr164=)
6g.160139658C>GCA366328116SLC22A1c.1067C>G (p.Thr356Arg)
c.1061+3008C>G (n.1061+3008C>G)
c.*540C>G (n.*540C>G)
c.491C>G (p.Thr164Arg)
6g.160139658C>TCA4083966SLC22A1c.1067C>T (p.Thr356Met)
c.1061+3008C>T (n.1061+3008C>T)
c.*540C>T (n.*540C>T)
c.491C>T (p.Thr164Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160139659G>ACA4083967SLC22A1c.1068G>A (p.Thr356=)
c.1061+3009G>A (n.1061+3009G>A)
c.*541G>A (n.*541G>A)
c.492G>A (p.Thr164=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160139659G>CCA453005381SLC22A1c.1068G>C (p.Thr356=)
c.1061+3009G>C (n.1061+3009G>C)
c.*541G>C (n.*541G>C)
c.492G>C (p.Thr164=)
6g.160139659G=CA1676923525SLC22A1c.1068G= (p.Thr356=)
c.1061+3009G= (n.1061+3009G=)
c.*541G= (n.*541G=)
c.492G= (p.Thr164=)
6g.160139659G>TCA4083968SLC22A1c.1068G>T (p.Thr356=)
c.1061+3009G>T (n.1061+3009G>T)
c.*541G>T (n.*541G>T)
c.492G>T (p.Thr164=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160139660G>ACA366328121SLC22A1c.1069G>A (p.Asp357Asn)
c.1061+3010G>A (n.1061+3010G>A)
c.*542G>A (n.*542G>A)
c.493G>A (p.Asp165Asn)
gnomAD v4
6g.160139660G>CCA366328122SLC22A1c.1069G>C (p.Asp357His)
c.1061+3010G>C (n.1061+3010G>C)
c.*542G>C (n.*542G>C)
c.493G>C (p.Asp165His)
6g.160139660G>TCA366328124SLC22A1c.1069G>T (p.Asp357Tyr)
c.1061+3010G>T (n.1061+3010G>T)
c.*542G>T (n.*542G>T)
c.493G>T (p.Asp165Tyr)
6g.160139661A=CA1676923526SLC22A1c.1070A= (p.Asp357=)
c.1061+3011A= (n.1061+3011A=)
c.*543A= (n.*543A=)
c.494A= (p.Asp165=)
6g.160139661A>CCA366328126SLC22A1c.1070A>C (p.Asp357Ala)
c.1061+3011A>C (n.1061+3011A>C)
c.*543A>C (n.*543A>C)
c.494A>C (p.Asp165Ala)
dbSNP
6g.160139661A>GCA366328128SLC22A1c.1070A>G (p.Asp357Gly)
c.1061+3011A>G (n.1061+3011A>G)
c.*543A>G (n.*543A>G)
c.494A>G (p.Asp165Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.160139661A>TCA366328130SLC22A1c.1070A>T (p.Asp357Val)
c.1061+3011A>T (n.1061+3011A>T)
c.*543A>T (n.*543A>T)
c.494A>T (p.Asp165Val)
6g.160139662C>ACA366328132SLC22A1c.1071C>A (p.Asp357Glu)
c.1061+3012C>A (n.1061+3012C>A)
c.*544C>A (n.*544C>A)
c.495C>A (p.Asp165Glu)
6g.160139662C=CA1676923527SLC22A1c.1071C= (p.Asp357=)
c.1061+3012C= (n.1061+3012C=)
c.*544C= (n.*544C=)
c.495C= (p.Asp165=)
6g.160139662C>GCA366328134SLC22A1c.1071C>G (p.Asp357Glu)
c.1061+3012C>G (n.1061+3012C>G)
c.*544C>G (n.*544C>G)
c.495C>G (p.Asp165Glu)
6g.160139662C>TCA453005440SLC22A1c.1071C>T (p.Asp357=)
c.1061+3012C>T (n.1061+3012C>T)
c.*544C>T (n.*544C>T)
c.495C>T (p.Asp165=)
dbSNP
6g.160139663T>ACA366328136SLC22A1c.1072T>A (p.Ser358Thr)
c.1061+3013T>A (n.1061+3013T>A)
c.*545T>A (n.*545T>A)
c.496T>A (p.Ser166Thr)
6g.160139663T>CCA366328140SLC22A1c.1072T>C (p.Ser358Pro)
c.1061+3013T>C (n.1061+3013T>C)
c.*545T>C (n.*545T>C)
c.496T>C (p.Ser166Pro)
6g.160139663T>GCA366328138SLC22A1c.1072T>G (p.Ser358Ala)
c.1061+3013T>G (n.1061+3013T>G)
c.*545T>G (n.*545T>G)
c.496T>G (p.Ser166Ala)
6g.160139664C>ACA366328142SLC22A1c.1073C>A (p.Ser358Tyr)
c.1061+3014C>A (n.1061+3014C>A)
c.*546C>A (n.*546C>A)
c.497C>A (p.Ser166Tyr)
gnomAD v4
6g.160139664C=CA1676923529SLC22A1c.1073C= (p.Ser358=)
c.1061+3014C= (n.1061+3014C=)
c.*546C= (n.*546C=)
c.497C= (p.Ser166=)
6g.160139664C>GCA4083970SLC22A1c.1073C>G (p.Ser358Cys)
c.1061+3014C>G (n.1061+3014C>G)
c.*546C>G (n.*546C>G)
c.497C>G (p.Ser166Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160139664C>TCA366328145SLC22A1c.1073C>T (p.Ser358Phe)
c.1061+3014C>T (n.1061+3014C>T)
c.*546C>T (n.*546C>T)
c.497C>T (p.Ser166Phe)
gnomAD v4
6g.160139664_160139666delinsCTGCA1676923528SLC22A1c.1073_1075delinsCTG (p.Ser358=)
c.1061+3014_1061+3016delinsCTG (n.1061+3014_1061+3016delinsCTG)
c.*546_*548delinsCTG (n.*546_*548delinsCTG)
c.497_499delinsCTG (p.Ser166=)
6g.160139665T>ACA453005462SLC22A1c.1074T>A (p.Ser358=)
c.1061+3015T>A (n.1061+3015T>A)
c.*547T>A (n.*547T>A)
c.498T>A (p.Ser166=)
6g.160139665T>CCA453005473SLC22A1c.1074T>C (p.Ser358=)
c.1061+3015T>C (n.1061+3015T>C)
c.*547T>C (n.*547T>C)
c.498T>C (p.Ser166=)
6g.160139665T>GCA453005478SLC22A1c.1074T>G (p.Ser358=)
c.1061+3015T>G (n.1061+3015T>G)
c.*547T>G (n.*547T>G)
c.498T>G (p.Ser166=)
6g.160139667_160139668delCA4083969SLC22A1c.1076_1077del (p.Val359AlafsTer?)
c.1061+3017_1061+3018del (n.1061+3017_1061+3018del)
c.*549_*550del (n.*549_*550del)
c.500_501del (p.Val167AlafsTer?)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160139666G>ACA366328150SLC22A1c.1075G>A (p.Val359Met)
c.1061+3016G>A (n.1061+3016G>A)
c.*548G>A (n.*548G>A)
c.499G>A (p.Val167Met)
6g.160139666G>CCA366328152SLC22A1c.1075G>C (p.Val359Leu)
c.1061+3016G>C (n.1061+3016G>C)
c.*548G>C (n.*548G>C)
c.499G>C (p.Val167Leu)
dbSNP gnomAD v2 gnomAD v4
6g.160139666G=CA1676923530SLC22A1c.1075G= (p.Val359=)
c.1061+3016G= (n.1061+3016G=)
c.*548G= (n.*548G=)
c.499G= (p.Val167=)
6g.160139666G>TCA366328154SLC22A1c.1075G>T (p.Val359Leu)
c.1061+3016G>T (n.1061+3016G>T)
c.*548G>T (n.*548G>T)
c.499G>T (p.Val167Leu)
6g.160139667T>ACA366328156SLC22A1c.1076T>A (p.Val359Glu)
c.1061+3017T>A (n.1061+3017T>A)
c.*549T>A (n.*549T>A)
c.500T>A (p.Val167Glu)
6g.160139667T>CCA366328158SLC22A1c.1076T>C (p.Val359Ala)
c.1061+3017T>C (n.1061+3017T>C)
c.*549T>C (n.*549T>C)
c.500T>C (p.Val167Ala)
COSMIC
6g.160139667T>GCA366328160SLC22A1c.1076T>G (p.Val359Gly)
c.1061+3017T>G (n.1061+3017T>G)
c.*549T>G (n.*549T>G)
c.500T>G (p.Val167Gly)
6g.160139668G>ACA4083971SLC22A1c.1077G>A (p.Val359=)
c.1061+3018G>A (n.1061+3018G>A)
c.*550G>A (n.*550G>A)
c.501G>A (p.Val167=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.160139668G>CCA453005508SLC22A1c.1077G>C (p.Val359=)
c.1061+3018G>C (n.1061+3018G>C)
c.*550G>C (n.*550G>C)
c.501G>C (p.Val167=)
6g.160139668G=CA1676923531SLC22A1c.1077G= (p.Val359=)
c.1061+3018G= (n.1061+3018G=)
c.*550G= (n.*550G=)
c.501G= (p.Val167=)
6g.160139668G>TCA453005510SLC22A1c.1077G>T (p.Val359=)
c.1061+3018G>T (n.1061+3018G>T)
c.*550G>T (n.*550G>T)
c.501G>T (p.Val167=)
6g.160139669C>ACA366328166SLC22A1c.1078C>A (p.Leu360Ile)
c.1061+3019C>A (n.1061+3019C>A)
c.*551C>A (n.*551C>A)
c.502C>A (p.Leu168Ile)
6g.160139669C>GCA366328162SLC22A1c.1078C>G (p.Leu360Val)
c.1061+3019C>G (n.1061+3019C>G)
c.*551C>G (n.*551C>G)
c.502C>G (p.Leu168Val)
6g.160139669C>TCA366328164SLC22A1c.1078C>T (p.Leu360Phe)
c.1061+3019C>T (n.1061+3019C>T)
c.*551C>T (n.*551C>T)
c.502C>T (p.Leu168Phe)
gnomAD v4
6g.160139670T>ACA366328168SLC22A1c.1079T>A (p.Leu360His)
c.1061+3020T>A (n.1061+3020T>A)
c.*552T>A (n.*552T>A)
c.503T>A (p.Leu168His)
6g.160139670T>CCA366328170SLC22A1c.1079T>C (p.Leu360Pro)
c.1061+3020T>C (n.1061+3020T>C)
c.*552T>C (n.*552T>C)
c.503T>C (p.Leu168Pro)
6g.160139670T>GCA366328172SLC22A1c.1079T>G (p.Leu360Arg)
c.1061+3020T>G (n.1061+3020T>G)
c.*552T>G (n.*552T>G)
c.503T>G (p.Leu168Arg)
6g.160139671C>ACA453005566SLC22A1c.1080C>A (p.Leu360=)
c.1061+3021C>A (n.1061+3021C>A)
c.*553C>A (n.*553C>A)
c.504C>A (p.Leu168=)
6g.160139671C>GCA453005570SLC22A1c.1080C>G (p.Leu360=)
c.1061+3021C>G (n.1061+3021C>G)
c.*553C>G (n.*553C>G)
c.504C>G (p.Leu168=)
gnomAD v4
6g.160139671C>TCA453005574SLC22A1c.1080C>T (p.Leu360=)
c.1061+3021C>T (n.1061+3021C>T)
c.*553C>T (n.*553C>T)
c.504C>T (p.Leu168=)
COSMIC
6g.160139672T>ACA366328174SLC22A1c.1081T>A (p.Tyr361Asn)
c.1061+3022T>A (n.1061+3022T>A)
c.*554T>A (n.*554T>A)
c.505T>A (p.Tyr169Asn)
6g.160139672T>CCA366328176SLC22A1c.1081T>C (p.Tyr361His)
c.1061+3022T>C (n.1061+3022T>C)
c.*554T>C (n.*554T>C)
c.505T>C (p.Tyr169His)
6g.160139672T>GCA366328178SLC22A1c.1081T>G (p.Tyr361Asp)
c.1061+3022T>G (n.1061+3022T>G)
c.*554T>G (n.*554T>G)
c.505T>G (p.Tyr169Asp)
6g.160139673A>CCA366328180SLC22A1c.1082A>C (p.Tyr361Ser)
c.1061+3023A>C (n.1061+3023A>C)
c.*555A>C (n.*555A>C)
c.506A>C (p.Tyr169Ser)
dbSNP
6g.160139673A>GCA366328182SLC22A1c.1082A>G (p.Tyr361Cys)
c.1061+3023A>G (n.1061+3023A>G)
c.*555A>G (n.*555A>G)
c.506A>G (p.Tyr169Cys)
gnomAD v4
6g.160139673A>TCA366328184SLC22A1c.1082A>T (p.Tyr361Phe)
c.1061+3023A>T (n.1061+3023A>T)
c.*555A>T (n.*555A>T)
c.506A>T (p.Tyr169Phe)
6g.160139674T>ACA366328186SLC22A1c.1083T>A (p.Tyr361Ter)
c.1061+3024T>A (n.1061+3024T>A)
c.*556T>A (n.*556T>A)
c.507T>A (p.Tyr169Ter)
6g.160139674T>CCA453005601SLC22A1c.1083T>C (p.Tyr361=)
c.1061+3024T>C (n.1061+3024T>C)
c.*556T>C (n.*556T>C)
c.507T>C (p.Tyr169=)
gnomAD v4
6g.160139674T>GCA366328188SLC22A1c.1083T>G (p.Tyr361Ter)
c.1061+3024T>G (n.1061+3024T>G)
c.*556T>G (n.*556T>G)
c.507T>G (p.Tyr169Ter)
6g.160139675C>ACA366328194SLC22A1c.1084C>A (p.Gln362Lys)
c.1061+3025C>A (n.1061+3025C>A)
c.*557C>A (n.*557C>A)
c.508C>A (p.Gln170Lys)
6g.160139675C>GCA366328190SLC22A1c.1084C>G (p.Gln362Glu)
c.1061+3025C>G (n.1061+3025C>G)
c.*557C>G (n.*557C>G)
c.508C>G (p.Gln170Glu)
6g.160139675C>TCA366328192SLC22A1c.1084C>T (p.Gln362Ter)
c.1061+3025C>T (n.1061+3025C>T)
c.*557C>T (n.*557C>T)
c.508C>T (p.Gln170Ter)
6g.160139676A>CCA366328196SLC22A1c.1085A>C (p.Gln362Pro)
c.1061+3026A>C (n.1061+3026A>C)
c.*558A>C (n.*558A>C)
c.509A>C (p.Gln170Pro)
6g.160139676A>GCA366328198SLC22A1c.1085A>G (p.Gln362Arg)
c.1061+3026A>G (n.1061+3026A>G)
c.*558A>G (n.*558A>G)
c.509A>G (p.Gln170Arg)
6g.160139676A>TCA366328200SLC22A1c.1085A>T (p.Gln362Leu)
c.1061+3026A>T (n.1061+3026A>T)
c.*558A>T (n.*558A>T)
c.509A>T (p.Gln170Leu)
6g.160139677G>ACA453005638SLC22A1c.1086G>A (p.Gln362=)
c.1061+3027G>A (n.1061+3027G>A)
c.*559G>A (n.*559G>A)
c.510G>A (p.Gln170=)
gnomAD v4
6g.160139677G>CCA366328201SLC22A1c.1086G>C (p.Gln362His)
c.1061+3027G>C (n.1061+3027G>C)
c.*559G>C (n.*559G>C)
c.510G>C (p.Gln170His)
6g.160139677G>TCA366328202SLC22A1c.1086G>T (p.Gln362His)
c.1061+3027G>T (n.1061+3027G>T)
c.*559G>T (n.*559G>T)
c.510G>T (p.Gln170His)
gnomAD v4
6g.160139678G>ACA366328205SLC22A1c.1087G>A (p.Gly363Arg)
c.1061+3028G>A (n.1061+3028G>A)
c.*560G>A (n.*560G>A)
c.511G>A (p.Gly171Arg)
6g.160139678G>CCA366328207SLC22A1c.1087G>C (p.Gly363Arg)
c.1061+3028G>C (n.1061+3028G>C)
c.*560G>C (n.*560G>C)
c.511G>C (p.Gly171Arg)
6g.160139678G>TCA366328208SLC22A1c.1087G>T (p.Gly363Trp)
c.1061+3028G>T (n.1061+3028G>T)
c.*560G>T (n.*560G>T)
c.511G>T (p.Gly171Trp)
6g.160139679G>ACA366328211SLC22A1c.1088G>A (p.Gly363Glu)
c.1061+3029G>A (n.1061+3029G>A)
c.*561G>A (n.*561G>A)
c.512G>A (p.Gly171Glu)
6g.160139679G>CCA366328213SLC22A1c.1088G>C (p.Gly363Ala)
c.1061+3029G>C (n.1061+3029G>C)
c.*561G>C (n.*561G>C)
c.512G>C (p.Gly171Ala)
COSMIC
6g.160139679G=CA1676923532SLC22A1c.1088G= (p.Gly363=)
c.1061+3029G= (n.1061+3029G=)
c.*561G= (n.*561G=)
c.512G= (p.Gly171=)
6g.160139679G>TCA366328214SLC22A1c.1088G>T (p.Gly363Val)
c.1061+3029G>T (n.1061+3029G>T)
c.*561G>T (n.*561G>T)
c.512G>T (p.Gly171Val)
dbSNP gnomAD v2 gnomAD v4
6g.160139680G>ACA453005663SLC22A1c.1089G>A (p.Gly363=)
c.1061+3030G>A (n.1061+3030G>A)
c.*562G>A (n.*562G>A)
c.513G>A (p.Gly171=)
6g.160139680G>CCA453005669SLC22A1c.1089G>C (p.Gly363=)
c.1061+3030G>C (n.1061+3030G>C)
c.*562G>C (n.*562G>C)
c.513G>C (p.Gly171=)
6g.160139680G>TCA453005674SLC22A1c.1089G>T (p.Gly363=)
c.1061+3030G>T (n.1061+3030G>T)
c.*562G>T (n.*562G>T)
c.513G>T (p.Gly171=)
COSMIC
6g.160139681C>ACA366328220SLC22A1c.1090C>A (p.Leu364Ile)
c.1061+3031C>A (n.1061+3031C>A)
c.*563C>A (n.*563C>A)
c.514C>A (p.Leu172Ile)
6g.160139681C=CA1676923533SLC22A1c.1090C= (p.Leu364=)
c.1061+3031C= (n.1061+3031C=)
c.*563C= (n.*563C=)
c.514C= (p.Leu172=)
6g.160139681C>GCA366328219SLC22A1c.1090C>G (p.Leu364Val)
c.1061+3031C>G (n.1061+3031C>G)
c.*563C>G (n.*563C>G)
c.514C>G (p.Leu172Val)
6g.160139681C>TCA366328217SLC22A1c.1090C>T (p.Leu364Phe)
c.1061+3031C>T (n.1061+3031C>T)
c.*563C>T (n.*563C>T)
c.514C>T (p.Leu172Phe)
dbSNP gnomAD v3 gnomAD v4
6g.160139682T>ACA366328223SLC22A1c.1091T>A (p.Leu364His)
c.1061+3032T>A (n.1061+3032T>A)
c.*564T>A (n.*564T>A)
c.515T>A (p.Leu172His)
6g.160139682T>CCA366328225SLC22A1c.1091T>C (p.Leu364Pro)
c.1061+3032T>C (n.1061+3032T>C)
c.*564T>C (n.*564T>C)
c.515T>C (p.Leu172Pro)
6g.160139682T>GCA366328227SLC22A1c.1091T>G (p.Leu364Arg)
c.1061+3032T>G (n.1061+3032T>G)
c.*564T>G (n.*564T>G)
c.515T>G (p.Leu172Arg)
6g.160139683C>ACA453005694SLC22A1c.1092C>A (p.Leu364=)
c.1061+3033C>A (n.1061+3033C>A)
c.*565C>A (n.*565C>A)
c.516C>A (p.Leu172=)
gnomAD v4
6g.160139683C=CA1676923534SLC22A1c.1092C= (p.Leu364=)
c.1061+3033C= (n.1061+3033C=)
c.*565C= (n.*565C=)
c.516C= (p.Leu172=)
6g.160139683C>GCA453005696SLC22A1c.1092C>G (p.Leu364=)
c.1061+3033C>G (n.1061+3033C>G)
c.*565C>G (n.*565C>G)
c.516C>G (p.Leu172=)
6g.160139683C>TCA453005703SLC22A1c.1092C>T (p.Leu364=)
c.1061+3033C>T (n.1061+3033C>T)
c.*565C>T (n.*565C>T)
c.516C>T (p.Leu172=)
dbSNP gnomAD v3 gnomAD v4
6g.160139684A>CCA366328230SLC22A1c.1093A>C (p.Ile365Leu)
c.1061+3034A>C (n.1061+3034A>C)
c.*566A>C (n.*566A>C)
c.517A>C (p.Ile173Leu)
gnomAD v4
6g.160139684A>GCA366328231SLC22A1c.1093A>G (p.Ile365Val)
c.1061+3034A>G (n.1061+3034A>G)
c.*566A>G (n.*566A>G)
c.517A>G (p.Ile173Val)
6g.160139684A>TCA366328233SLC22A1c.1093A>T (p.Ile365Phe)
c.1061+3034A>T (n.1061+3034A>T)
c.*566A>T (n.*566A>T)
c.517A>T (p.Ile173Phe)
6g.160139685T>ACA366328238SLC22A1c.1094T>A (p.Ile365Asn)
c.1061+3035T>A (n.1061+3035T>A)
c.*567T>A (n.*567T>A)
c.518T>A (p.Ile173Asn)
6g.160139685T>CCA366328237SLC22A1c.1094T>C (p.Ile365Thr)
c.1061+3035T>C (n.1061+3035T>C)
c.*567T>C (n.*567T>C)
c.518T>C (p.Ile173Thr)
gnomAD v4
6g.160139685T>GCA366328236SLC22A1c.1094T>G (p.Ile365Ser)
c.1061+3035T>G (n.1061+3035T>G)
c.*567T>G (n.*567T>G)
c.518T>G (p.Ile173Ser)
6g.160139686C>ACA453005719SLC22A1c.1095C>A (p.Ile365=)
c.1061+3036C>A (n.1061+3036C>A)
c.*568C>A (n.*568C>A)
c.519C>A (p.Ile173=)
6g.160139686C>GCA366328241SLC22A1c.1095C>G (p.Ile365Met)
c.1061+3036C>G (n.1061+3036C>G)
c.*568C>G (n.*568C>G)
c.519C>G (p.Ile173Met)
6g.160139686C>TCA453005739SLC22A1c.1095C>T (p.Ile365=)
c.1061+3036C>T (n.1061+3036C>T)
c.*568C>T (n.*568C>T)
c.519C>T (p.Ile173=)
6g.160139687C>ACA366328242SLC22A1c.1096C>A (p.Leu366Met)
c.1061+3037C>A (n.1061+3037C>A)
c.*569C>A (n.*569C>A)
c.520C>A (p.Leu174Met)
6g.160139687C=CA1676923535SLC22A1c.1096C= (p.Leu366=)
c.1061+3037C= (n.1061+3037C=)
c.*569C= (n.*569C=)
c.520C= (p.Leu174=)
6g.160139687C>GCA366328244SLC22A1c.1096C>G (p.Leu366Val)
c.1061+3037C>G (n.1061+3037C>G)
c.*569C>G (n.*569C>G)
c.520C>G (p.Leu174Val)
6g.160139687C>TCA151158170SLC22A1c.1096C>T (p.Leu366=)
c.1061+3037C>T (n.1061+3037C>T)
c.*569C>T (n.*569C>T)
c.520C>T (p.Leu174=)
dbSNP gnomAD v4
6g.160139688T>ACA366328246SLC22A1c.1097T>A (p.Leu366Gln)
c.1061+3038T>A (n.1061+3038T>A)
c.*570T>A (n.*570T>A)
c.521T>A (p.Leu174Gln)
6g.160139688T>CCA366328248SLC22A1c.1097T>C (p.Leu366Pro)
c.1061+3038T>C (n.1061+3038T>C)
c.*570T>C (n.*570T>C)
c.521T>C (p.Leu174Pro)
gnomAD v4
6g.160139688T>GCA366328249SLC22A1c.1097T>G (p.Leu366Arg)
c.1061+3038T>G (n.1061+3038T>G)
c.*570T>G (n.*570T>G)
c.521T>G (p.Leu174Arg)
6g.160139689G>ACA453005767SLC22A1c.1098G>A (p.Leu366=)
c.1061+3039G>A (n.1061+3039G>A)
c.*571G>A (n.*571G>A)
c.522G>A (p.Leu174=)
6g.160139689G>CCA453005769SLC22A1c.1098G>C (p.Leu366=)
c.1061+3039G>C (n.1061+3039G>C)
c.*571G>C (n.*571G>C)
c.522G>C (p.Leu174=)
gnomAD v4
6g.160139689G>TCA453005768SLC22A1c.1098G>T (p.Leu366=)
c.1061+3039G>T (n.1061+3039G>T)
c.*571G>T (n.*571G>T)
c.522G>T (p.Leu174=)
6g.160139690C>ACA366328256SLC22A1c.1099C>A (p.His367Asn)
c.1061+3040C>A (n.1061+3040C>A)
c.*572C>A (n.*572C>A)
c.523C>A (p.His175Asn)
dbSNP gnomAD v3 gnomAD v4
6g.160139690C=CA1676923536SLC22A1c.1099C= (p.His367=)
c.1061+3040C= (n.1061+3040C=)
c.*572C= (n.*572C=)
c.523C= (p.His175=)
6g.160139690C>GCA366328252SLC22A1c.1099C>G (p.His367Asp)
c.1061+3040C>G (n.1061+3040C>G)
c.*572C>G (n.*572C>G)
c.523C>G (p.His175Asp)
6g.160139690C>TCA366328254SLC22A1c.1099C>T (p.His367Tyr)
c.1061+3040C>T (n.1061+3040C>T)
c.*572C>T (n.*572C>T)
c.523C>T (p.His175Tyr)
6g.160139691A>CCA366328258SLC22A1c.1100A>C (p.His367Pro)
c.1061+3041A>C (n.1061+3041A>C)
c.*573A>C (n.*573A>C)
c.524A>C (p.His175Pro)
6g.160139691A>GCA366328259SLC22A1c.1100A>G (p.His367Arg)
c.1061+3041A>G (n.1061+3041A>G)
c.*573A>G (n.*573A>G)
c.524A>G (p.His175Arg)
6g.160139691A>TCA366328261SLC22A1c.1100A>T (p.His367Leu)
c.1061+3041A>T (n.1061+3041A>T)
c.*573A>T (n.*573A>T)
c.524A>T (p.His175Leu)
6g.160139692C>ACA366328263SLC22A1c.1101C>A (p.His367Gln)
c.1061+3042C>A (n.1061+3042C>A)
c.*574C>A (n.*574C>A)
c.525C>A (p.His175Gln)
6g.160139692C>GCA366328265SLC22A1c.1101C>G (p.His367Gln)
c.1061+3042C>G (n.1061+3042C>G)
c.*574C>G (n.*574C>G)
c.525C>G (p.His175Gln)
6g.160139692C>TCA453005811SLC22A1c.1101C>T (p.His367=)
c.1061+3042C>T (n.1061+3042C>T)
c.*574C>T (n.*574C>T)
c.525C>T (p.His175=)
COSMIC
6g.160139693A=CA1676923537SLC22A1c.1102A= (p.Met368=)
c.1061+3043A= (n.1061+3043A=)
c.*575A= (n.*575A=)
c.526A= (p.Met176=)
6g.160139693A>CCA366328269SLC22A1c.1102A>C (p.Met368Leu)
c.1061+3043A>C (n.1061+3043A>C)
c.*575A>C (n.*575A>C)
c.526A>C (p.Met176Leu)
6g.160139693A>GCA4083972SLC22A1c.1102A>G (p.Met368Val)
c.1061+3043A>G (n.1061+3043A>G)
c.*575A>G (n.*575A>G)
c.526A>G (p.Met176Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160139693A>TCA366328267SLC22A1c.1102A>T (p.Met368Leu)
c.1061+3043A>T (n.1061+3043A>T)
c.*575A>T (n.*575A>T)
c.526A>T (p.Met176Leu)
gnomAD v4
6g.160139694T>ACA366328271SLC22A1c.1103T>A (p.Met368Lys)
c.1061+3044T>A (n.1061+3044T>A)
c.*576T>A (n.*576T>A)
c.527T>A (p.Met176Lys)
6g.160139694T>CCA4083973SLC22A1c.1103T>C (p.Met368Thr)
c.1061+3044T>C (n.1061+3044T>C)
c.*576T>C (n.*576T>C)
c.527T>C (p.Met176Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160139694T>GCA366328273SLC22A1c.1103T>G (p.Met368Arg)
c.1061+3044T>G (n.1061+3044T>G)
c.*576T>G (n.*576T>G)
c.527T>G (p.Met176Arg)
6g.160139694T=CA1676923538SLC22A1c.1103T= (p.Met368=)
c.1061+3044T= (n.1061+3044T=)
c.*576T= (n.*576T=)
c.527T= (p.Met176=)
6g.160139695G>ACA366328275SLC22A1c.1104G>A (p.Met368Ile)
c.1061+3045G>A (n.1061+3045G>A)
c.*577G>A (n.*577G>A)
c.528G>A (p.Met176Ile)
6g.160139695G>CCA366328277SLC22A1c.1104G>C (p.Met368Ile)
c.1061+3045G>C (n.1061+3045G>C)
c.*577G>C (n.*577G>C)
c.528G>C (p.Met176Ile)
6g.160139695G=CA1676923539SLC22A1c.1104G= (p.Met368=)
c.1061+3045G= (n.1061+3045G=)
c.*577G= (n.*577G=)
c.528G= (p.Met176=)
6g.160139695G>TCA366328279SLC22A1c.1104G>T (p.Met368Ile)
c.1061+3045G>T (n.1061+3045G>T)
c.*577G>T (n.*577G>T)
c.528G>T (p.Met176Ile)
dbSNP
6g.160139697delCA2681065177SLC22A1c.1106del (p.Gly369AlafsTer24)
c.1061+3047del (n.1061+3047del)
c.*579del (n.*579del)
c.530del (p.Gly177AlafsTer24)
gnomAD v4
6g.160139696G>ACA366328281SLC22A1c.1105G>A (p.Gly369Ser)
c.1061+3046G>A (n.1061+3046G>A)
c.*578G>A (n.*578G>A)
c.529G>A (p.Gly177Ser)
6g.160139696G>CCA366328285SLC22A1c.1105G>C (p.Gly369Arg)
c.1061+3046G>C (n.1061+3046G>C)
c.*578G>C (n.*578G>C)
c.529G>C (p.Gly177Arg)
6g.160139696G>TCA366328283SLC22A1c.1105G>T (p.Gly369Cys)
c.1061+3046G>T (n.1061+3046G>T)
c.*578G>T (n.*578G>T)
c.529G>T (p.Gly177Cys)
6g.160139697G>ACA366328287SLC22A1c.1106G>A (p.Gly369Asp)
c.1061+3047G>A (n.1061+3047G>A)
c.*579G>A (n.*579G>A)
c.530G>A (p.Gly177Asp)
6g.160139697G>CCA366328288SLC22A1c.1106G>C (p.Gly369Ala)
c.1061+3047G>C (n.1061+3047G>C)
c.*579G>C (n.*579G>C)
c.530G>C (p.Gly177Ala)
6g.160139697G>TCA366328290SLC22A1c.1106G>T (p.Gly369Val)
c.1061+3047G>T (n.1061+3047G>T)
c.*579G>T (n.*579G>T)
c.530G>T (p.Gly177Val)

Number of alleles fetched