| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23950092del | CA16041943 | LAMA3 | c.4748del (p.Thr1583MetfsTer4) c.9575del (p.Thr3192MetfsTer4) c.6170del (p.Thr2057MetfsTer4) c.9407del (p.Thr3136MetfsTer4) c.4580del (p.Thr1527MetfsTer4) c.96del n.4153del c.9602del (p.Thr3201MetfsTer4) c.9593del (p.Thr3198MetfsTer4) c.9584del (p.Thr3195MetfsTer4) c.9470del (p.Thr3157MetfsTer4) c.9305del (p.Thr3102MetfsTer4) c.7454del (p.Thr2485MetfsTer4) c.5144del (p.Thr1715MetfsTer4) n.9843del | ClinVar dbSNP gnomAD v4 |
| 18 | g.23950092C= | CA3229117696 | LAMA3 | c.4748C= (p.Thr1583=) c.9575C= (p.Thr3192=) c.6170C= (p.Thr2057=) c.9407C= (p.Thr3136=) c.4580C= (p.Thr1527=) c.96C= n.4153C= c.9602C= (p.Thr3201=) c.9593C= (p.Thr3198=) c.9584C= (p.Thr3195=) c.9470C= (p.Thr3157=) c.9305C= (p.Thr3102=) c.7454C= (p.Thr2485=) c.5144C= (p.Thr1715=) n.9843C= | dbSNP dbSNP |