| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37048543G>T | CA267553 | NIPBL | c.6631G>T (p.Glu2211Ter) c.1-16035G>T (n.1-16035G>T) c.5887G>T (p.Glu1963Ter) c.6433G>T (p.Glu2145Ter) c.6250G>T (p.Glu2084Ter) c.5971G>T (p.Glu1991Ter) c.5014G>T (p.Glu1672Ter) c.5005G>T (p.Glu1669Ter) | ClinVar dbSNP |
| 5 | g.37048543G= | CA1539567498 | NIPBL | c.6631G= (p.Glu2211=) c.1-16035G= (n.1-16035G=) c.5887G= (p.Glu1963=) c.6433G= (p.Glu2145=) c.6250G= (p.Glu2084=) c.5971G= (p.Glu1991=) c.5014G= (p.Glu1672=) c.5005G= (p.Glu1669=) | dbSNP |
| 5 | g.37048543G>A | CA359508008 | NIPBL | c.6631G>A (p.Glu2211Lys) c.1-16035G>A (n.1-16035G>A) c.5887G>A (p.Glu1963Lys) c.6433G>A (p.Glu2145Lys) c.6250G>A (p.Glu2084Lys) c.5971G>A (p.Glu1991Lys) c.5014G>A (p.Glu1672Lys) c.5005G>A (p.Glu1669Lys) | dbSNP gnomAD v4 |