Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94614574G>A | CA7329679 | SERPINA3 | c.133G>A (p.Val45Met) c.1096G>A n.57+2127G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.94614574G>C | CA390853579 | SERPINA3 | c.133G>C (p.Val45Leu) c.1096G>C n.57+2127G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94614574G= | CA2156072033 | SERPINA3 | c.133G= (p.Val45=) c.1096G= n.57+2127G= | |
14 | g.94614574G>T | CA390853580 | SERPINA3 | c.133G>T (p.Val45Leu) c.1096G>T n.57+2127G>T | |
14 | g.94614575T>A | CA390853584 | SERPINA3 | c.134T>A (p.Val45Glu) c.1097T>A n.57+2128T>A | |
14 | g.94614575T>C | CA390853585 | SERPINA3 | c.134T>C (p.Val45Ala) c.1097T>C n.57+2128T>C | |
14 | g.94614575T>G | CA390853583 | SERPINA3 | c.134T>G (p.Val45Gly) c.1097T>G n.57+2128T>G | |
14 | g.94614576G>A | CA487843368 | SERPINA3 | c.135G>A (p.Val45=) c.1098G>A n.57+2129G>A | dbSNP |
14 | g.94614576G>C | CA487843369 | SERPINA3 | c.135G>C (p.Val45=) c.1098G>C n.57+2129G>C | |
14 | g.94614576G>T | CA487843370 | SERPINA3 | c.135G>T (p.Val45=) c.1098G>T n.57+2129G>T | |
14 | g.94614577G>A | CA390853587 | SERPINA3 | c.136G>A (p.Asp46Asn) c.1099G>A n.57+2130G>A | |
14 | g.94614577G>C | CA390853589 | SERPINA3 | c.136G>C (p.Asp46His) c.1099G>C n.57+2130G>C | gnomAD v4 |
14 | g.94614577G>T | CA390853591 | SERPINA3 | c.136G>T (p.Asp46Tyr) c.1099G>T n.57+2130G>T | |
14 | g.94614578A= | CA2156072038 | SERPINA3 | c.137A= (p.Asp46=) c.1100A= n.57+2131A= | |
14 | g.94614578A>C | CA390853592 | SERPINA3 | c.137A>C (p.Asp46Ala) c.1100A>C n.57+2131A>C | dbSNP |
14 | g.94614578A>G | CA390853593 | SERPINA3 | c.137A>G (p.Asp46Gly) c.1100A>G n.57+2131A>G | |
14 | g.94614578A>T | CA390853594 | SERPINA3 | c.137A>T (p.Asp46Val) c.1100A>T n.57+2131A>T | |
14 | g.94614579C>A | CA390853595 | SERPINA3 | c.138C>A (p.Asp46Glu) c.1101C>A n.57+2132C>A | COSMIC COSMIC |
14 | g.94614579C>G | CA390853596 | SERPINA3 | c.138C>G (p.Asp46Glu) c.1101C>G n.57+2132C>G | |
14 | g.94614579C>T | CA487843371 | SERPINA3 | c.138C>T (p.Asp46=) c.1101C>T n.57+2132C>T | gnomAD v4 |
14 | g.94614580C>A | CA390853597 | SERPINA3 | c.139C>A (p.Leu47Ile) c.1102C>A n.57+2133C>A | |
14 | g.94614580C>G | CA390853598 | SERPINA3 | c.139C>G (p.Leu47Val) c.1102C>G n.57+2133C>G | |
14 | g.94614580C>T | CA390853599 | SERPINA3 | c.139C>T (p.Leu47Phe) c.1102C>T n.57+2133C>T | |
14 | g.94614581T>A | CA390853600 | SERPINA3 | c.140T>A (p.Leu47His) c.1103T>A n.57+2134T>A | |
14 | g.94614581T>C | CA390853601 | SERPINA3 | c.140T>C (p.Leu47Pro) c.1103T>C n.57+2134T>C | |
14 | g.94614581T>G | CA390853602 | SERPINA3 | c.140T>G (p.Leu47Arg) c.1103T>G n.57+2134T>G | |
14 | g.94614582C>A | CA487843372 | SERPINA3 | c.141C>A (p.Leu47=) c.1104C>A n.57+2135C>A | |
14 | g.94614582C= | CA2156072039 | SERPINA3 | c.141C= (p.Leu47=) c.1104C= n.57+2135C= | |
14 | g.94614582C>G | CA487843373 | SERPINA3 | c.141C>G (p.Leu47=) c.1104C>G n.57+2135C>G | |
14 | g.94614582C>T | CA7329680 | SERPINA3 | c.141C>T (p.Leu47=) c.1104C>T n.57+2135C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.94614583G>A | CA7329681 | SERPINA3 | c.142G>A (p.Gly48Arg) c.1105G>A n.57+2136G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.94614583G>C | CA390853603 | SERPINA3 | c.142G>C (p.Gly48Arg) c.1105G>C n.57+2136G>C | |
14 | g.94614583G= | CA2156072041 | SERPINA3 | c.142G= (p.Gly48=) c.1105G= n.57+2136G= | |
14 | g.94614583G>T | CA390853604 | SERPINA3 | c.142G>T (p.Gly48Ter) c.1105G>T n.57+2136G>T | gnomAD v4 |
14 | g.94614584G>A | CA390853605 | SERPINA3 | c.143G>A (p.Gly48Glu) c.1106G>A n.57+2137G>A | dbSNP |
14 | g.94614584G>C | CA390853606 | SERPINA3 | c.143G>C (p.Gly48Ala) c.1106G>C n.57+2137G>C | |
14 | g.94614584G>T | CA390853607 | SERPINA3 | c.143G>T (p.Gly48Val) c.1106G>T n.57+2137G>T | |
14 | g.94614585A>C | CA487843376 | SERPINA3 | c.144A>C (p.Gly48=) c.1107A>C n.57+2138A>C | |
14 | g.94614585A>G | CA487843374 | SERPINA3 | c.144A>G (p.Gly48=) c.1107A>G n.57+2138A>G | gnomAD v4 |
14 | g.94614585A>T | CA487843375 | SERPINA3 | c.144A>T (p.Gly48=) c.1107A>T n.57+2138A>T | |
14 | g.94614586T>A | CA390853608 | SERPINA3 | c.145T>A (p.Leu49Ile) c.1108T>A n.57+2139T>A | |
14 | g.94614586T>C | CA487843377 | SERPINA3 | c.145T>C (p.Leu49=) c.1108T>C n.57+2139T>C | |
14 | g.94614586T>G | CA390853609 | SERPINA3 | c.145T>G (p.Leu49Val) c.1108T>G n.57+2139T>G | |
14 | g.94614587T>A | CA390853612 | SERPINA3 | c.146T>A (p.Leu49Ter) c.1109T>A n.57+2140T>A | |
14 | g.94614587T>C | CA390853610 | SERPINA3 | c.146T>C (p.Leu49Ser) c.1109T>C n.57+2140T>C | |
14 | g.94614587T>G | CA390853611 | SERPINA3 | c.146T>G (p.Leu49Ter) c.1109T>G n.57+2140T>G | |
14 | g.94614588A>C | CA390853613 | SERPINA3 | c.147A>C (p.Leu49Phe) c.1110A>C n.57+2141A>C | |
14 | g.94614588A>G | CA487843378 | SERPINA3 | c.147A>G (p.Leu49=) c.1110A>G n.57+2141A>G | |
14 | g.94614588A>T | CA390853614 | SERPINA3 | c.147A>T (p.Leu49Phe) c.1110A>T n.57+2141A>T | |
14 | g.94614589G>A | CA7329682 | SERPINA3 | c.148G>A (p.Ala50Thr) c.1111G>A n.57+2142G>A | dbSNP ExAC gnomAD v3 gnomAD v4 |