| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23931125G>C | CA402064702 | LAMA3 | c.3673G>C (p.Gly1225Arg) c.8500G>C (p.Gly2834Arg) c.5095G>C (p.Gly1699Arg) c.8332G>C (p.Gly2778Arg) c.3278G>C c.3505G>C (p.Gly1169Arg) c.205G>C (p.Gly69Arg) n.3078G>C c.8527G>C (p.Gly2843Arg) c.8518G>C (p.Gly2840Arg) c.8509G>C (p.Gly2837Arg) c.8395G>C (p.Gly2799Arg) c.8230G>C (p.Gly2744Arg) c.6379G>C (p.Gly2127Arg) c.4069G>C (p.Gly1357Arg) n.8768G>C | dbSNP gnomAD v4 |
| 18 | g.23931125G>A | CA297124538 | LAMA3 | c.3673G>A (p.Gly1225Ser) c.8500G>A (p.Gly2834Ser) c.5095G>A (p.Gly1699Ser) c.8332G>A (p.Gly2778Ser) c.3278G>A c.3505G>A (p.Gly1169Ser) c.205G>A (p.Gly69Ser) n.3078G>A c.8527G>A (p.Gly2843Ser) c.8518G>A (p.Gly2840Ser) c.8509G>A (p.Gly2837Ser) c.8395G>A (p.Gly2799Ser) c.8230G>A (p.Gly2744Ser) c.6379G>A (p.Gly2127Ser) c.4069G>A (p.Gly1357Ser) n.8768G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23931125G>T | CA402064704 | LAMA3 | c.3673G>T (p.Gly1225Cys) c.8500G>T (p.Gly2834Cys) c.5095G>T (p.Gly1699Cys) c.8332G>T (p.Gly2778Cys) c.3278G>T c.3505G>T (p.Gly1169Cys) c.205G>T (p.Gly69Cys) n.3078G>T c.8527G>T (p.Gly2843Cys) c.8518G>T (p.Gly2840Cys) c.8509G>T (p.Gly2837Cys) c.8395G>T (p.Gly2799Cys) c.8230G>T (p.Gly2744Cys) c.6379G>T (p.Gly2127Cys) c.4069G>T (p.Gly1357Cys) n.8768G>T | dbSNP |