| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.74056680C>G | CA367881956 | ELN | c.1324C>G (p.Gln442Glu) c.1138C>G (p.Gln380Glu) c.1339C>G (p.Gln447Glu) c.973C>G (p.Gln325Glu) c.1294C>G (p.Gln432Glu) c.1282C>G (p.Gln428Glu) c.1309C>G (p.Gln437Glu) c.1114C>G (p.Gln372Glu) c.1288C>G (p.Gln430Glu) c.1303C>G (p.Gln435Glu) c.1297C>G (p.Gln433Glu) c.1285C>G (p.Gln429Glu) c.1273C>G (p.Gln425Glu) c.1258C>G (p.Gln420Glu) c.1252C>G (p.Gln418Glu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.74056680C>T | CA281025 | ELN | c.1324C>T (p.Gln442Ter) c.1138C>T (p.Gln380Ter) c.1339C>T (p.Gln447Ter) c.973C>T (p.Gln325Ter) c.1294C>T (p.Gln432Ter) c.1282C>T (p.Gln428Ter) c.1309C>T (p.Gln437Ter) c.1114C>T (p.Gln372Ter) c.1288C>T (p.Gln430Ter) c.1303C>T (p.Gln435Ter) c.1297C>T (p.Gln433Ter) c.1285C>T (p.Gln429Ter) c.1273C>T (p.Gln425Ter) c.1258C>T (p.Gln420Ter) c.1252C>T (p.Gln418Ter) | ClinVar dbSNP |
| 7 | g.74056680C= | CA1717344160 | ELN | c.1324C= (p.Gln442=) c.1138C= (p.Gln380=) c.1339C= (p.Gln447=) c.973C= (p.Gln325=) c.1294C= (p.Gln432=) c.1282C= (p.Gln428=) c.1309C= (p.Gln437=) c.1114C= (p.Gln372=) c.1288C= (p.Gln430=) c.1303C= (p.Gln435=) c.1297C= (p.Gln433=) c.1285C= (p.Gln429=) c.1273C= (p.Gln425=) c.1258C= (p.Gln420=) c.1252C= (p.Gln418=) | dbSNP |