| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.14109044G>T | CA9979345 | LIPI | c.1043C>A (p.Thr348Lys) c.1314C>A (p.Asp438Glu) c.1242C>A (p.Asp414Glu) c.837C>A (p.Asp279Glu) c.*336C>A (n.*336C>A) c.1227C>A (p.Asp409Glu) c.1332C>A (p.Asp444Glu) c.1395C>A (p.Asp465Glu) c.1305C>A (p.Asp435Glu) c.1215C>A (p.Asp405Glu) c.1112C>A (p.Thr371Lys) c.1197C>A (p.Asp399Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.14109044G>A | CA511421619 | LIPI | c.1043C>T (p.Thr348Ile) c.1314C>T (p.Asp438=) c.1242C>T (p.Asp414=) c.837C>T (p.Asp279=) c.*336C>T (n.*336C>T) c.1227C>T (p.Asp409=) c.1332C>T (p.Asp444=) c.1395C>T (p.Asp465=) c.1305C>T (p.Asp435=) c.1215C>T (p.Asp405=) c.1112C>T (p.Thr371Ile) c.1197C>T (p.Asp399=) | dbSNP |
| 21 | g.14109044G= | CA2377696529 | LIPI | c.1043C= (p.Thr348=) c.1314C= (p.Asp438=) c.1242C= (p.Asp414=) c.837C= (p.Asp279=) c.*336C= (n.*336C=) c.1227C= (p.Asp409=) c.1332C= (p.Asp444=) c.1395C= (p.Asp465=) c.1305C= (p.Asp435=) c.1215C= (p.Asp405=) c.1112C= (p.Thr371=) c.1197C= (p.Asp399=) | dbSNP |