Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.3671095C>G | CA9745116 | ADAM33 | c.2151G>C (p.Gly717=) c.2073G>C (p.Gly691=) n.1712G>C c.*838G>C (n.*838G>C) c.1791G>C (p.Gly597=) c.2190G>C (p.Gly730=) c.2181G>C (p.Gly727=) c.2187G>C (p.Gly729=) c.2148G>C (p.Gly716=) c.2112G>C (p.Gly704=) c.1188G>C (p.Gly396=) n.2294G>C n.2175G>C n.2096G>C n.2098G>C n.2262G>C n.2371G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3671095C>A | CA509559942 | ADAM33 | c.2151G>T (p.Gly717=) c.2073G>T (p.Gly691=) n.1712G>T c.*838G>T (n.*838G>T) c.1791G>T (p.Gly597=) c.2190G>T (p.Gly730=) c.2181G>T (p.Gly727=) c.2187G>T (p.Gly729=) c.2148G>T (p.Gly716=) c.2112G>T (p.Gly704=) c.1188G>T (p.Gly396=) n.2294G>T n.2175G>T n.2096G>T n.2098G>T n.2262G>T n.2371G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |