| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.74503252G>A | CA129851 | LTBP2 | c.4855C>T (p.Gln1619Ter) c.4723C>T (p.Gln1575Ter) c.4474C>T (p.Gln1492Ter) c.4396C>T (p.Gln1466Ter) c.4372C>T (p.Gln1458Ter) | ClinVar dbSNP gnomAD v4 |
| 14 | g.74503252G>C | CA390384394 | LTBP2 | c.4855C>G (p.Gln1619Glu) c.4723C>G (p.Gln1575Glu) c.4474C>G (p.Gln1492Glu) c.4396C>G (p.Gln1466Glu) c.4372C>G (p.Gln1458Glu) | dbSNP gnomAD v4 |
| 14 | g.74503252G= | CA2147075154 | LTBP2 | c.4855C= (p.Gln1619=) c.4723C= (p.Gln1575=) c.4474C= (p.Gln1492=) c.4396C= (p.Gln1466=) c.4372C= (p.Gln1458=) | dbSNP |