| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89315319G>A | CA251642 | FANCI,POLG | c.3575G>A (p.Arg1192Gln) c.3317G>A (p.Arg1106Gln) c.3854G>A (p.Arg1285Gln) n.5439G>A c.73+1387C>T c.3986G>A (p.Arg1329Gln) n.3059G>A c.3812G>A (p.Arg1271Gln) n.3435G>A c.3674G>A (p.Arg1225Gln) c.*198G>A (n.*198G>A) c.3150G>A n.437G>A n.3861G>A c.3509G>A (p.Arg1170Gln) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89315319G= | CA2194534445 | FANCI,POLG | c.3575G= (p.Arg1192=) c.3317G= (p.Arg1106=) c.3854G= (p.Arg1285=) n.5439G= c.73+1387C= c.3986G= (p.Arg1329=) n.3059G= c.3812G= (p.Arg1271=) n.3435G= c.3674G= (p.Arg1225=) c.*198G= (n.*198G=) c.3150G= n.437G= n.3861G= c.3509G= (p.Arg1170=) | dbSNP |
| 15 | g.89315319G>T | CA393744685 | FANCI,POLG | c.3575G>T (p.Arg1192Leu) c.3317G>T (p.Arg1106Leu) c.3854G>T (p.Arg1285Leu) n.5439G>T c.73+1387C>A c.3986G>T (p.Arg1329Leu) n.3059G>T c.3812G>T (p.Arg1271Leu) n.3435G>T c.3674G>T (p.Arg1225Leu) c.*198G>T (n.*198G>T) c.3150G>T n.437G>T n.3861G>T c.3509G>T (p.Arg1170Leu) | dbSNP gnomAD v4 |