| 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.177081_177089del | CA276416957 | HBA1 | c.248_256del (p.Ala83_Ser85del) c.152_160del (p.Ala51_Ser53del) n.384_392del n.217_225del | dbSNP |
| 16 | g.177089G>A | CA125733 | HBA1 | c.256G>A (p.Asp86Asn) c.160G>A (p.Asp54Asn) n.392G>A n.225G>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.177089G>C | CA276416974 | HBA1 | c.256G>C (p.Asp86His) c.160G>C (p.Asp54His) n.392G>C n.225G>C | ClinVar dbSNP |
| 16 | g.177089G= | CA2200883090 | HBA1 | c.256G= (p.Asp86=) c.160G= (p.Asp54=) n.392G= n.225G= | |
| 16 | g.177089G>T | CA125676 | HBA1 | c.256G>T (p.Asp86Tyr) c.160G>T (p.Asp54Tyr) n.392G>T n.225G>T | ClinVar dbSNP |
| 16 | g.177090A= | CA2200883091 | HBA1 | c.257A= (p.Asp86=) c.161A= (p.Asp54=) n.393A= n.226A= | |
| 16 | g.177090A>C | CA393995508 | HBA1 | c.257A>C (p.Asp86Ala) c.161A>C (p.Asp54Ala) n.393A>C n.226A>C | |
| 16 | g.177090A>G | CA393995511 | HBA1 | c.257A>G (p.Asp86Gly) c.161A>G (p.Asp54Gly) n.393A>G n.226A>G | |
| 16 | g.177090A>T | CA393995513 | HBA1 | c.257A>T (p.Asp86Val) c.161A>T (p.Asp54Val) n.393A>T n.226A>T | ClinVar dbSNP |
| 16 | g.177091C>A | CA276416976 | HBA1 | c.258C>A (p.Asp86Glu) c.162C>A (p.Asp54Glu) n.394C>A n.227C>A | dbSNP gnomAD v4 |
| 16 | g.177091C= | CA2200883092 | HBA1 | c.258C= (p.Asp86=) c.162C= (p.Asp54=) n.394C= n.227C= | |
| 16 | g.177091C>G | CA276416978 | HBA1 | c.258C>G (p.Asp86Glu) c.162C>G (p.Asp54Glu) n.394C>G n.227C>G | dbSNP |
| 16 | g.177091C>T | CA492994647 | HBA1 | c.258C>T (p.Asp86=) c.162C>T (p.Asp54=) n.394C>T n.227C>T | gnomAD v4 |
| 16 | g.177092C>A | CA393995516 | HBA1 | c.259C>A (p.Leu87Met) c.163C>A (p.Leu55Met) n.395C>A n.228C>A | |
| 16 | g.177092C= | CA2200883093 | HBA1 | c.259C= (p.Leu87=) c.163C= (p.Leu55=) n.395C= n.228C= | |
| 16 | g.177092C>G | CA276416979 | HBA1 | c.259C>G (p.Leu87Val) c.163C>G (p.Leu55Val) n.395C>G n.228C>G | dbSNP |
| 16 | g.177092C>T | CA492994651 | HBA1 | c.259C>T (p.Leu87=) c.163C>T (p.Leu55=) n.395C>T n.228C>T | |
| 16 | g.177093T>A | CA393995519 | HBA1 | c.260T>A (p.Leu87Gln) c.164T>A (p.Leu55Gln) n.396T>A n.229T>A | |
| 16 | g.177093T>C | CA393995521 | HBA1 | c.260T>C (p.Leu87Pro) c.164T>C (p.Leu55Pro) n.396T>C n.229T>C | gnomAD v4 |
| 16 | g.177093T>G | CA125833 | HBA1 | c.260T>G (p.Leu87Arg) c.164T>G (p.Leu55Arg) n.396T>G n.229T>G | ClinVar dbSNP |
| 16 | g.177093T= | CA2200883094 | HBA1 | c.260T= (p.Leu87=) c.164T= (p.Leu55=) n.396T= n.229T= | |
| 16 | g.177094G>A | CA492994654 | HBA1 | c.261G>A (p.Leu87=) c.165G>A (p.Leu55=) n.397G>A n.230G>A | gnomAD v4 |
| 16 | g.177094G>C | CA492994655 | HBA1 | c.261G>C (p.Leu87=) c.165G>C (p.Leu55=) n.397G>C n.230G>C | |
| 16 | g.177094G>T | CA492994652 | HBA1 | c.261G>T (p.Leu87=) c.165G>T (p.Leu55=) n.397G>T n.230G>T | gnomAD v4 |
| 16 | g.177095C>A | CA126025 | HBA1 | c.262C>A (p.His88Asn) c.166C>A (p.His56Asn) n.398C>A n.231C>A | ClinVar dbSNP |
| 16 | g.177095C= | CA2200883095 | HBA1 | c.262C= (p.His88=) c.166C= (p.His56=) n.398C= n.231C= | |
| 16 | g.177095C>G | CA276416983 | HBA1 | c.262C>G (p.His88Asp) c.166C>G (p.His56Asp) n.398C>G n.231C>G | dbSNP |
| 16 | g.177095C>T | CA125819 | HBA1 | c.262C>T (p.His88Tyr) c.166C>T (p.His56Tyr) n.398C>T n.231C>T | ClinVar dbSNP gnomAD v4 |
| 16 | g.177096del | CA2695221234 | HBA1 | c.263del (p.His88ProfsTer15) c.167del (p.His56ProfsTer15) n.399del n.232del | |
| 16 | g.177096A= | CA2200883096 | HBA1 | c.263A= (p.His88=) c.167A= (p.His56=) n.399A= n.232A= | |
| 16 | g.177096A>C | CA276416985 | HBA1 | c.263A>C (p.His88Pro) c.167A>C (p.His56Pro) n.399A>C n.232A>C | dbSNP |
| 16 | g.177096A>G | CA125761 | HBA1 | c.263A>G (p.His88Arg) c.167A>G (p.His56Arg) n.399A>G n.232A>G | ClinVar dbSNP |
| 16 | g.177096A>T | CA393995530 | HBA1 | c.263A>T (p.His88Leu) c.167A>T (p.His56Leu) n.399A>T n.232A>T | |
| 16 | g.177097C>A | CA393995532 | HBA1 | c.264C>A (p.His88Gln) c.168C>A (p.His56Gln) n.400C>A n.233C>A | gnomAD v4 |
| 16 | g.177097C= | CA2200883097 | HBA1 | c.264C= (p.His88=) c.168C= (p.His56=) n.400C= n.233C= | |
| 16 | g.177097C>G | CA393995533 | HBA1 | c.264C>G (p.His88Gln) c.168C>G (p.His56Gln) n.400C>G n.233C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.177097C>T | CA492994658 | HBA1 | c.264C>T (p.His88=) c.168C>T (p.His56=) n.400C>T n.233C>T | gnomAD v4 |
| 16 | g.177100_177101del | CA2630739878 | HBA1 | c.267_268del (p.His90GlnfsTer?) c.171_172del (p.His58GlnfsTer?) n.403_404del n.236_237del | gnomAD v4 |
| 16 | g.177098G>A | CA393995534 | HBA1 | c.265G>A (p.Ala89Thr) c.169G>A (p.Ala57Thr) n.401G>A n.234G>A | |
| 16 | g.177098G>C | CA393995535 | HBA1 | c.265G>C (p.Ala89Pro) c.169G>C (p.Ala57Pro) n.401G>C n.234G>C | |
| 16 | g.177098G= | CA2200883098 | HBA1 | c.265G= (p.Ala89=) c.169G= (p.Ala57=) n.401G= n.234G= | |
| 16 | g.177098G>T | CA125813 | HBA1 | c.265G>T (p.Ala89Ser) c.169G>T (p.Ala57Ser) n.401G>T n.234G>T | ClinVar dbSNP gnomAD v4 |
| 16 | g.177099C>A | CA276416988 | HBA1 | c.266C>A (p.Ala89Glu) c.170C>A (p.Ala57Glu) n.402C>A n.235C>A | dbSNP |
| 16 | g.177099C= | CA2200883099 | HBA1 | c.266C= (p.Ala89=) c.170C= (p.Ala57=) n.402C= n.235C= | |
| 16 | g.177099C>G | CA276416989 | HBA1 | c.266C>G (p.Ala89Gly) c.170C>G (p.Ala57Gly) n.402C>G n.235C>G | dbSNP |
| 16 | g.177099C>T | CA276416991 | HBA1 | c.266C>T (p.Ala89Val) c.170C>T (p.Ala57Val) n.402C>T n.235C>T | dbSNP |