| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.69078931A>T | CA114457 | TPCN2 | c.307A>T (p.Met103Leu) c.1450A>T (p.Met484Leu) n.1043A>T n.1259A>T c.1447A>T (p.Met483Leu) c.1195A>T (p.Met399Leu) c.757A>T (p.Met253Leu) c.727A>T (p.Met243Leu) c.1210A>T (p.Met404Leu) c.754A>T (p.Met252Leu) c.619A>T (p.Met207Leu) n.1551A>T c.1281A>T (p.Arg427Ser) c.1278A>T (p.Arg426Ser) c.541A>T (p.Met181Leu) c.558A>T (p.Arg186Ser) c.450A>T (p.Arg150Ser) c.1240A>T (p.Met414Leu) n.1382A>T n.1554A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.69078931A>G | CA381656223 | TPCN2 | c.307A>G (p.Met103Val) c.1450A>G (p.Met484Val) n.1043A>G n.1259A>G c.1447A>G (p.Met483Val) c.1195A>G (p.Met399Val) c.757A>G (p.Met253Val) c.727A>G (p.Met243Val) c.1210A>G (p.Met404Val) c.754A>G (p.Met252Val) c.619A>G (p.Met207Val) n.1551A>G c.1281A>G (p.Arg427=) c.1278A>G (p.Arg426=) c.541A>G (p.Met181Val) c.558A>G (p.Arg186=) c.450A>G (p.Arg150=) c.1240A>G (p.Met414Val) n.1382A>G n.1554A>G | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.69078931A>C | CA6155275 | TPCN2 | c.307A>C (p.Met103Leu) c.1450A>C (p.Met484Leu) n.1043A>C n.1259A>C c.1447A>C (p.Met483Leu) c.1195A>C (p.Met399Leu) c.757A>C (p.Met253Leu) c.727A>C (p.Met243Leu) c.1210A>C (p.Met404Leu) c.754A>C (p.Met252Leu) c.619A>C (p.Met207Leu) n.1551A>C c.1281A>C (p.Arg427Ser) c.1278A>C (p.Arg426Ser) c.541A>C (p.Met181Leu) c.558A>C (p.Arg186Ser) c.450A>C (p.Arg150Ser) c.1240A>C (p.Met414Leu) n.1382A>C n.1554A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |