| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.113118845G>T | CA256461867 | F7 | c.1172G>T (p.Arg391Leu) c.1238G>T (p.Arg413Leu) c.986G>T (p.Arg329Leu) n.1259G>T c.1031G>T (p.Arg344Leu) c.1280G>T (p.Arg427Leu) c.1094G>T (p.Arg365Leu) c.932G>T (p.Arg311Leu) c.1241G>T (p.Arg414Leu) c.1076G>T (p.Arg359Leu) c.1325G>T (p.Arg442Leu) c.1139G>T (p.Arg380Leu) n.1256G>T | dbSNP |
| 13 | g.113118845G>C | CA256461862 | F7 | c.1172G>C (p.Arg391Pro) c.1238G>C (p.Arg413Pro) c.986G>C (p.Arg329Pro) n.1259G>C c.1031G>C (p.Arg344Pro) c.1280G>C (p.Arg427Pro) c.1094G>C (p.Arg365Pro) c.932G>C (p.Arg311Pro) c.1241G>C (p.Arg414Pro) c.1076G>C (p.Arg359Pro) c.1325G>C (p.Arg442Pro) c.1139G>C (p.Arg380Pro) n.1256G>C | dbSNP |
| 13 | g.113118845G>A | CA121855 | F7 | c.1172G>A (p.Arg391Gln) c.1238G>A (p.Arg413Gln) c.986G>A (p.Arg329Gln) n.1259G>A c.1031G>A (p.Arg344Gln) c.1280G>A (p.Arg427Gln) c.1094G>A (p.Arg365Gln) c.932G>A (p.Arg311Gln) c.1241G>A (p.Arg414Gln) c.1076G>A (p.Arg359Gln) c.1325G>A (p.Arg442Gln) c.1139G>A (p.Arg380Gln) n.1256G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113118845G= | CA2018007887 | F7 | c.1172G= (p.Arg391=) c.1238G= (p.Arg413=) c.986G= (p.Arg329=) n.1259G= c.1031G= (p.Arg344=) c.1280G= (p.Arg427=) c.1094G= (p.Arg365=) c.932G= (p.Arg311=) c.1241G= (p.Arg414=) c.1076G= (p.Arg359=) c.1325G= (p.Arg442=) c.1139G= (p.Arg380=) n.1256G= | dbSNP |