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.173562G>A | CA393994611 | HBA2 | c.391G>A (p.Ala131Thr) c.295G>A (p.Ala99Thr) n.527G>A | COSMIC |
16 | g.173562G>C | CA125576 | HBA2 | c.391G>C (p.Ala131Pro) c.295G>C (p.Ala99Pro) n.527G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.173562G= | CA2200880956 | HBA2 | c.391G= (p.Ala131=) c.295G= (p.Ala99=) n.527G= | |
16 | g.173562G>T | CA393994614 | HBA2 | c.391G>T (p.Ala131Ser) c.295G>T (p.Ala99Ser) n.527G>T | |
16 | g.173563C>A | CA276415481 | HBA2 | c.392C>A (p.Ala131Asp) c.296C>A (p.Ala99Asp) n.528C>A | dbSNP |
16 | g.173563C= | CA2200880957 | HBA2 | c.392C= (p.Ala131=) c.296C= (p.Ala99=) n.528C= | |
16 | g.173563C>G | CA393994615 | HBA2 | c.392C>G (p.Ala131Gly) c.296C>G (p.Ala99Gly) n.528C>G | |
16 | g.173563C>T | CA393994617 | HBA2 | c.392C>T (p.Ala131Val) c.296C>T (p.Ala99Val) n.528C>T | |
16 | g.173564T>A | CA492785495 | HBA2 | c.393T>A (p.Ala131=) c.297T>A (p.Ala99=) n.529T>A | |
16 | g.173564T>C | CA492785504 | HBA2 | c.393T>C (p.Ala131=) c.297T>C (p.Ala99=) n.529T>C | |
16 | g.173564T>G | CA492785502 | HBA2 | c.393T>G (p.Ala131=) c.297T>G (p.Ala99=) n.529T>G | |
16 | g.173565T>A | CA393994619 | HBA2 | c.394T>A (p.Ser132Thr) c.298T>A (p.Ser100Thr) n.530T>A | gnomAD v4 |
16 | g.173565T>C | CA276415483 | HBA2 | c.394T>C (p.Ser132Pro) c.298T>C (p.Ser100Pro) n.530T>C | dbSNP |
16 | g.173565T>G | CA393994620 | HBA2 | c.394T>G (p.Ser132Ala) c.298T>G (p.Ser100Ala) n.530T>G | |
16 | g.173565T= | CA2200880958 | HBA2 | c.394T= (p.Ser132=) c.298T= (p.Ser100=) n.530T= | |
16 | g.173566C>A | CA393994624 | HBA2 | c.395C>A (p.Ser132Tyr) c.299C>A (p.Ser100Tyr) n.531C>A | |
16 | g.173566C= | CA2200880959 | HBA2 | c.395C= (p.Ser132=) c.299C= (p.Ser100=) n.531C= | |
16 | g.173566C>G | CA7770183 | HBA2 | c.395C>G (p.Ser132Cys) c.299C>G (p.Ser100Cys) n.531C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.173566C>T | CA393994622 | HBA2 | c.395C>T (p.Ser132Phe) c.299C>T (p.Ser100Phe) n.531C>T | gnomAD v4 |
16 | g.173567T>A | CA492785510 | HBA2 | c.396T>A (p.Ser132=) c.300T>A (p.Ser100=) n.532T>A | |
16 | g.173567T>C | CA492785511 | HBA2 | c.396T>C (p.Ser132=) c.300T>C (p.Ser100=) n.532T>C | |
16 | g.173567T>G | CA492785513 | HBA2 | c.396T>G (p.Ser132=) c.300T>G (p.Ser100=) n.532T>G | |
16 | g.173568G>A | CA393994626 | HBA2 | c.397G>A (p.Val133Met) c.301G>A (p.Val101Met) n.533G>A | gnomAD v4 |
16 | g.173568G>C | CA393994627 | HBA2 | c.397G>C (p.Val133Leu) c.301G>C (p.Val101Leu) n.533G>C | |
16 | g.173568G>T | CA393994629 | HBA2 | c.397G>T (p.Val133Leu) c.301G>T (p.Val101Leu) n.533G>T | |
16 | g.173569T>A | CA393994630 | HBA2 | c.398T>A (p.Val133Glu) c.302T>A (p.Val101Glu) n.534T>A | |
16 | g.173569T>C | CA393994631 | HBA2 | c.398T>C (p.Val133Ala) c.302T>C (p.Val101Ala) n.534T>C | |
16 | g.173569T>G | CA276415487 | HBA2 | c.398T>G (p.Val133Gly) c.302T>G (p.Val101Gly) n.534T>G | dbSNP |
16 | g.173569T= | CA2200880960 | HBA2 | c.398T= (p.Val133=) c.302T= (p.Val101=) n.534T= | |
16 | g.173570G>A | CA492785525 | HBA2 | c.399G>A (p.Val133=) c.303G>A (p.Val101=) n.535G>A | |
16 | g.173570G>C | CA492785522 | HBA2 | c.399G>C (p.Val133=) c.303G>C (p.Val101=) n.535G>C | |
16 | g.173570G>T | CA492785524 | HBA2 | c.399G>T (p.Val133=) c.303G>T (p.Val101=) n.535G>T | |
16 | g.173571_173577del | CA2588340007 | HBA2 | c.400_406del (p.Ser134CysfsTer2) c.304_310del (p.Ser102CysfsTer2) n.536_542del | |
16 | g.173571A= | CA2200880961 | HBA2 | c.400A= (p.Ser134=) c.304A= (p.Ser102=) n.536A= | |
16 | g.173571A>C | CA276415491 | HBA2 | c.400A>C (p.Ser134Arg) c.304A>C (p.Ser102Arg) n.536A>C | dbSNP |
16 | g.173571A>G | CA393994633 | HBA2 | c.400A>G (p.Ser134Gly) c.304A>G (p.Ser102Gly) n.536A>G | |
16 | g.173571A>T | CA393994634 | HBA2 | c.400A>T (p.Ser134Cys) c.304A>T (p.Ser102Cys) n.536A>T | |
16 | g.173572G>A | CA276415494 | HBA2 | c.401G>A (p.Ser134Asn) c.305G>A (p.Ser102Asn) n.537G>A | dbSNP gnomAD v4 |
16 | g.173572G>C | CA393994636 | HBA2 | c.401G>C (p.Ser134Thr) c.305G>C (p.Ser102Thr) n.537G>C | |
16 | g.173572G= | CA2200880962 | HBA2 | c.401G= (p.Ser134=) c.305G= (p.Ser102=) n.537G= | |
16 | g.173572G>T | CA393994638 | HBA2 | c.401G>T (p.Ser134Ile) c.305G>T (p.Ser102Ile) n.537G>T | |
16 | g.173573C>A | CA125650 | HBA2 | c.402C>A (p.Ser134Arg) c.306C>A (p.Ser102Arg) n.538C>A | ClinVar dbSNP |
16 | g.173573C= | CA2200880963 | HBA2 | c.402C= (p.Ser134=) c.306C= (p.Ser102=) n.538C= | |
16 | g.173573C>G | CA276415497 | HBA2 | c.402C>G (p.Ser134Arg) c.306C>G (p.Ser102Arg) n.538C>G | dbSNP |
16 | g.173573C>T | CA492785537 | HBA2 | c.402C>T (p.Ser134=) c.306C>T (p.Ser102=) n.538C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.173574A= | CA2200880964 | HBA2 | c.403A= (p.Thr135=) c.307A= (p.Thr103=) n.539A= |