Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.171847_181556del | CA916083461 | ClinVar | ||
16 | g.172001_181401del | CA916083462 | ClinVar | ||
16 | g.172005_177200del | CA16602274 | ClinVar | ||
16 | g.173384_177187del | CA16602246 | ClinVar | ||
16 | g.173283_173284delinsGC | CA2200880745 | HBA2 | c.254_255delinsGC (p.Ser85=) c.158_159delinsGC (p.Ser53=) n.390_391delinsGC n.223_224delinsGC | |
16 | g.173284del | CA718603450 | HBA2 | c.255del (p.Ser85ArgfsTer18) c.159del (p.Ser53ArgfsTer18) n.391del n.224del | dbSNP |
16 | g.173284C>A | CA276414947 | HBA2 | c.255C>A (p.Ser85Arg) c.159C>A (p.Ser53Arg) n.391C>A n.224C>A | dbSNP |
16 | g.173284C= | CA2200880746 | HBA2 | c.255C= (p.Ser85=) c.159C= (p.Ser53=) n.391C= n.224C= | |
16 | g.173284C>G | CA276414948 | HBA2 | c.255C>G (p.Ser85Arg) c.159C>G (p.Ser53Arg) n.391C>G n.224C>G | dbSNP |
16 | g.173284C>T | CA492994752 | HBA2 | c.255C>T (p.Ser85=) c.159C>T (p.Ser53=) n.391C>T n.224C>T | |
16 | g.173285G>A | CA276414952 | HBA2 | c.256G>A (p.Asp86Asn) c.160G>A (p.Asp54Asn) n.392G>A n.225G>A | dbSNP |
16 | g.173285G>C | CA393993792 | HBA2 | c.256G>C (p.Asp86His) c.160G>C (p.Asp54His) n.392G>C n.225G>C | |
16 | g.173285G= | CA2200880747 | HBA2 | c.256G= (p.Asp86=) c.160G= (p.Asp54=) n.392G= n.225G= | |
16 | g.173285G>T | CA276414956 | HBA2 | c.256G>T (p.Asp86Tyr) c.160G>T (p.Asp54Tyr) n.392G>T n.225G>T | ClinVar dbSNP gnomAD v4 |
16 | g.173286A= | CA2200880748 | HBA2 | c.257A= (p.Asp86=) c.161A= (p.Asp54=) n.393A= n.226A= | |
16 | g.173286A>C | CA393993795 | HBA2 | c.257A>C (p.Asp86Ala) c.161A>C (p.Asp54Ala) n.393A>C n.226A>C | |
16 | g.173286A>G | CA276414959 | HBA2 | c.257A>G (p.Asp86Gly) c.161A>G (p.Asp54Gly) n.393A>G n.226A>G | dbSNP |
16 | g.173286A>T | CA125574 | HBA2 | c.257A>T (p.Asp86Val) c.161A>T (p.Asp54Val) n.393A>T n.226A>T | ClinVar dbSNP gnomAD v4 |
16 | g.173287C>A | CA276414966 | HBA2 | c.258C>A (p.Asp86Glu) c.162C>A (p.Asp54Glu) n.394C>A n.227C>A | dbSNP |
16 | g.173287C= | CA2200880749 | HBA2 | c.258C= (p.Asp86=) c.162C= (p.Asp54=) n.394C= n.227C= | |
16 | g.173287C>G | CA276414969 | HBA2 | c.258C>G (p.Asp86Glu) c.162C>G (p.Asp54Glu) n.394C>G n.227C>G | dbSNP |
16 | g.173287C>T | CA492994754 | HBA2 | c.258C>T (p.Asp86=) c.162C>T (p.Asp54=) n.394C>T n.227C>T | gnomAD v4 |
16 | g.173288C>A | CA393993804 | HBA2 | c.259C>A (p.Leu87Met) c.163C>A (p.Leu55Met) n.395C>A n.228C>A | |
16 | g.173288C= | CA2200880750 | HBA2 | c.259C= (p.Leu87=) c.163C= (p.Leu55=) n.395C= n.228C= | |
16 | g.173288C>G | CA7770118 | HBA2 | c.259C>G (p.Leu87Val) c.163C>G (p.Leu55Val) n.395C>G n.228C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.173288C>T | CA492994755 | HBA2 | c.259C>T (p.Leu87=) c.163C>T (p.Leu55=) n.395C>T n.228C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.173289T>A | CA393993810 | HBA2 | c.260T>A (p.Leu87Gln) c.164T>A (p.Leu55Gln) n.396T>A n.229T>A | |
16 | g.173289T>C | CA393993813 | HBA2 | c.260T>C (p.Leu87Pro) c.164T>C (p.Leu55Pro) n.396T>C n.229T>C | |
16 | g.173289T>G | CA276414974 | HBA2 | c.260T>G (p.Leu87Arg) c.164T>G (p.Leu55Arg) n.396T>G n.229T>G | dbSNP |
16 | g.173289T= | CA2200880751 | HBA2 | c.260T= (p.Leu87=) c.164T= (p.Leu55=) n.396T= n.229T= | |
16 | g.173290G>A | CA492994757 | HBA2 | c.261G>A (p.Leu87=) c.165G>A (p.Leu55=) n.397G>A n.230G>A | dbSNP gnomAD v4 |
16 | g.173290G>C | CA492994758 | HBA2 | c.261G>C (p.Leu87=) c.165G>C (p.Leu55=) n.397G>C n.230G>C | |
16 | g.173290G= | CA2200880752 | HBA2 | c.261G= (p.Leu87=) c.165G= (p.Leu55=) n.397G= n.230G= | |
16 | g.173290G>T | CA492994759 | HBA2 | c.261G>T (p.Leu87=) c.165G>T (p.Leu55=) n.397G>T n.230G>T | |
16 | g.173291C>A | CA276414978 | HBA2 | c.262C>A (p.His88Asn) c.166C>A (p.His56Asn) n.398C>A n.231C>A | dbSNP |
16 | g.173291C= | CA2200880753 | HBA2 | c.262C= (p.His88=) c.166C= (p.His56=) n.398C= n.231C= | |
16 | g.173291C>G | CA393993818 | HBA2 | c.262C>G (p.His88Asp) c.166C>G (p.His56Asp) n.398C>G n.231C>G | |
16 | g.173291C>T | CA276414980 | HBA2 | c.262C>T (p.His88Tyr) c.166C>T (p.His56Tyr) n.398C>T n.231C>T | dbSNP |
16 | g.173292A= | CA2200880754 | HBA2 | c.263A= (p.His88=) c.167A= (p.His56=) n.399A= n.232A= | |
16 | g.173292A>C | CA276414983 | HBA2 | c.263A>C (p.His88Pro) c.167A>C (p.His56Pro) n.399A>C n.232A>C | ClinVar dbSNP |
16 | g.173292A>G | CA276414993 | HBA2 | c.263A>G (p.His88Arg) c.167A>G (p.His56Arg) n.399A>G n.232A>G | dbSNP |
16 | g.173292A>T | CA393993822 | HBA2 | c.263A>T (p.His88Leu) c.167A>T (p.His56Leu) n.399A>T n.232A>T | |
16 | g.173293C>A | CA393993827 | HBA2 | c.264C>A (p.His88Gln) c.168C>A (p.His56Gln) n.400C>A n.233C>A | |
16 | g.173293C= | CA2200880755 | HBA2 | c.264C= (p.His88=) c.168C= (p.His56=) n.400C= n.233C= | |
16 | g.173293C>G | CA276414997 | HBA2 | c.264C>G (p.His88Gln) c.168C>G (p.His56Gln) n.400C>G n.233C>G | dbSNP |
16 | g.173293C>T | CA492994764 | HBA2 | c.264C>T (p.His88=) c.168C>T (p.His56=) n.400C>T n.233C>T | |
16 | g.173294G>A | CA276415002 | HBA2 | c.265G>A (p.Ala89Thr) c.169G>A (p.Ala57Thr) n.401G>A n.234G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.173294G>C | CA393993835 | HBA2 | c.265G>C (p.Ala89Pro) c.169G>C (p.Ala57Pro) n.401G>C n.234G>C | ClinVar |
16 | g.173294G= | CA2200880756 | HBA2 | c.265G= (p.Ala89=) c.169G= (p.Ala57=) n.401G= n.234G= | |
16 | g.173294G>T | CA276415000 | HBA2 | c.265G>T (p.Ala89Ser) c.169G>T (p.Ala57Ser) n.401G>T n.234G>T | dbSNP |