UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.173554A= | CA2200880953 | HBA2 | c.383A= (p.Lys128=) c.287A= (p.Lys96=) n.519A= | |
| 16 | g.173554A>C | CA276415461 | HBA2 | c.383A>C (p.Lys128Thr) c.287A>C (p.Lys96Thr) n.519A>C | ClinVar dbSNP |
| 16 | g.173554A>G | CA393994588 | HBA2 | c.383A>G (p.Lys128Arg) c.287A>G (p.Lys96Arg) n.519A>G | |
| 16 | g.173554A>T | CA393994589 | HBA2 | c.383A>T (p.Lys128Met) c.287A>T (p.Lys96Met) n.519A>T | |
| 16 | g.173555G>A | CA492785453 | HBA2 | c.384G>A (p.Lys128=) c.288G>A (p.Lys96=) n.520G>A | |
| 16 | g.173555G>C | CA276415462 | HBA2 | c.384G>C (p.Lys128Asn) c.288G>C (p.Lys96Asn) n.520G>C | dbSNP gnomAD v4 |
| 16 | g.173555G= | CA2200880954 | HBA2 | c.384G= (p.Lys128=) c.288G= (p.Lys96=) n.520G= | |
| 16 | g.173555G>T | CA276415464 | HBA2 | c.384G>T (p.Lys128Asn) c.288G>T (p.Lys96Asn) n.520G>T | dbSNP |
| 16 | g.173556T>A | CA393994592 | HBA2 | c.385T>A (p.Phe129Ile) c.289T>A (p.Phe97Ile) n.521T>A | |
| 16 | g.173556T>C | CA393994594 | HBA2 | c.385T>C (p.Phe129Leu) c.289T>C (p.Phe97Leu) n.521T>C | gnomAD v4 |
| 16 | g.173556T>G | CA393994596 | HBA2 | c.385T>G (p.Phe129Val) c.289T>G (p.Phe97Val) n.521T>G | |
| 16 | g.173557T>A | CA393994601 | HBA2 | c.386T>A (p.Phe129Tyr) c.290T>A (p.Phe97Tyr) n.522T>A | |
| 16 | g.173557T>C | CA393994599 | HBA2 | c.386T>C (p.Phe129Ser) c.290T>C (p.Phe97Ser) n.522T>C | |
| 16 | g.173557T>G | CA393994597 | HBA2 | c.386T>G (p.Phe129Cys) c.290T>G (p.Phe97Cys) n.522T>G | |
| 16 | g.173558C>A | CA393994602 | HBA2 | c.387C>A (p.Phe129Leu) c.291C>A (p.Phe97Leu) n.523C>A | |
| 16 | g.173558C>G | CA393994603 | HBA2 | c.387C>G (p.Phe129Leu) c.291C>G (p.Phe97Leu) n.523C>G | |
| 16 | g.173558C>T | CA492785467 | HBA2 | c.387C>T (p.Phe129=) c.291C>T (p.Phe97=) n.523C>T | |
| 16 | g.173559del | CA2630737981 | HBA2 | c.388del (p.Leu130TrpfsTer4) c.292del (p.Leu98TrpfsTer4) n.524del | gnomAD v4 |
| 16 | g.173559C>A | CA393994605 | HBA2 | c.388C>A (p.Leu130Met) c.292C>A (p.Leu98Met) n.524C>A | |
| 16 | g.173559C>G | CA393994607 | HBA2 | c.388C>G (p.Leu130Val) c.292C>G (p.Leu98Val) n.524C>G | |
| 16 | g.173559C>T | CA492785474 | HBA2 | c.388C>T (p.Leu130=) c.292C>T (p.Leu98=) n.524C>T | |
| 16 | g.173560T>A | CA393994609 | HBA2 | c.389T>A (p.Leu130Gln) c.293T>A (p.Leu98Gln) n.525T>A | |
| 16 | g.173560T>C | CA276415466 | HBA2 | c.389T>C (p.Leu130Pro) c.293T>C (p.Leu98Pro) n.525T>C | ClinVar dbSNP |
| 16 | g.173560T>G | CA393994610 | HBA2 | c.389T>G (p.Leu130Arg) c.293T>G (p.Leu98Arg) n.525T>G | |
| 16 | g.173560T= | CA2200880955 | HBA2 | c.389T= (p.Leu130=) c.293T= (p.Leu98=) n.525T= | |
| 16 | g.173561G>A | CA492785480 | HBA2 | c.390G>A (p.Leu130=) c.294G>A (p.Leu98=) n.526G>A | gnomAD v4 |
| 16 | g.173561G>C | CA492785481 | HBA2 | c.390G>C (p.Leu130=) c.294G>C (p.Leu98=) n.526G>C | |
| 16 | g.173561G>T | CA492785484 | HBA2 | c.390G>T (p.Leu130=) c.294G>T (p.Leu98=) n.526G>T | |
| 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= | |
| 16 | g.173574A>C | CA393994642 | HBA2 | c.403A>C (p.Thr135Pro) c.307A>C (p.Thr103Pro) n.539A>C | |
| 16 | g.173574A>G | CA276415500 | HBA2 | c.403A>G (p.Thr135Ala) c.307A>G (p.Thr103Ala) n.539A>G | dbSNP |
| 16 | g.173574A>T | CA276415504 | HBA2 | c.403A>T (p.Thr135Ser) c.307A>T (p.Thr103Ser) n.539A>T | dbSNP |
| 16 | g.173575C>A | CA393994644 | HBA2 | c.404C>A (p.Thr135Asn) c.308C>A (p.Thr103Asn) n.540C>A | |
| 16 | g.173575C= | CA2200880965 | HBA2 | c.404C= (p.Thr135=) c.308C= (p.Thr103=) n.540C= | |
| 16 | g.173575C>G | CA276415508 | HBA2 | c.404C>G (p.Thr135Ser) c.308C>G (p.Thr103Ser) n.540C>G | dbSNP |
| 16 | g.173575C>T | CA393994646 | HBA2 | c.404C>T (p.Thr135Ile) c.308C>T (p.Thr103Ile) n.540C>T | ClinVar dbSNP |
| 16 | g.173576C>A | CA492785551 | HBA2 | c.405C>A (p.Thr135=) c.309C>A (p.Thr103=) n.541C>A | gnomAD v4 |
| 16 | g.173576C= | CA2200880966 | HBA2 | c.405C= (p.Thr135=) c.309C= (p.Thr103=) n.541C= | |
| 16 | g.173576C>G | CA492785548 | HBA2 | c.405C>G (p.Thr135=) c.309C>G (p.Thr103=) n.541C>G | gnomAD v4 |
| 16 | g.173576C>T | CA7770184 | HBA2 | c.405C>T (p.Thr135=) c.309C>T (p.Thr103=) n.541C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173577G>A | CA393994648 | HBA2 | c.406G>A (p.Val136Met) c.310G>A (p.Val104Met) n.542G>A | |
| 16 | g.173577G>C | CA276415511 | HBA2 | c.406G>C (p.Val136Leu) c.310G>C (p.Val104Leu) n.542G>C | dbSNP |
| 16 | g.173577G= | CA2200880967 | HBA2 | c.406G= (p.Val136=) c.310G= (p.Val104=) n.542G= | |
| 16 | g.173577G>T | CA393994651 | HBA2 | c.406G>T (p.Val136Leu) c.310G>T (p.Val104Leu) n.542G>T | |
| 16 | g.173578T>A | CA276415514 | HBA2 | c.407T>A (p.Val136Glu) c.311T>A (p.Val104Glu) n.543T>A | dbSNP |
| 16 | g.173578T>C | CA393994653 | HBA2 | c.407T>C (p.Val136Ala) c.311T>C (p.Val104Ala) n.543T>C | |
| 16 | g.173578T>G | CA393994654 | HBA2 | c.407T>G (p.Val136Gly) c.311T>G (p.Val104Gly) n.543T>G | |
| 16 | g.173578T= | CA2200880968 | HBA2 | c.407T= (p.Val136=) c.311T= (p.Val104=) n.543T= | |
| 16 | g.173579G>A | CA492785567 | HBA2 | c.408G>A (p.Val136=) c.312G>A (p.Val104=) n.544G>A | dbSNP gnomAD v2 |
| 16 | g.173579G>C | CA492785569 | HBA2 | c.408G>C (p.Val136=) c.312G>C (p.Val104=) n.544G>C | |
| 16 | g.173579G= | CA2200880969 | HBA2 | c.408G= (p.Val136=) c.312G= (p.Val104=) n.544G= | |
| 16 | g.173579G>T | CA492785571 | HBA2 | c.408G>T (p.Val136=) c.312G>T (p.Val104=) n.544G>T | |
| 16 | g.173580C>A | CA7770185 | HBA2 | c.409C>A (p.Leu137Met) c.313C>A (p.Leu105Met) n.545C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173580C= | CA2200880970 | HBA2 | c.409C= (p.Leu137=) c.313C= (p.Leu105=) n.545C= | |
| 16 | g.173580C>G | CA393994657 | HBA2 | c.409C>G (p.Leu137Val) c.313C>G (p.Leu105Val) n.545C>G | |
| 16 | g.173580C>T | CA492785577 | HBA2 | c.409C>T (p.Leu137=) c.313C>T (p.Leu105=) n.545C>T | |
| 16 | g.173581T>A | CA393994658 | HBA2 | c.410T>A (p.Leu137Gln) c.314T>A (p.Leu105Gln) n.546T>A | |
| 16 | g.173581T>C | CA215114 | HBA2 | c.410T>C (p.Leu137Pro) c.314T>C (p.Leu105Pro) n.546T>C | ClinVar dbSNP |
| 16 | g.173581T>G | CA276415519 | HBA2 | c.410T>G (p.Leu137Arg) c.314T>G (p.Leu105Arg) n.546T>G | dbSNP |
| 16 | g.173581T= | CA2200880971 | HBA2 | c.410T= (p.Leu137=) c.314T= (p.Leu105=) n.546T= | |
| 16 | g.173582G>A | CA492785585 | HBA2 | c.411G>A (p.Leu137=) c.315G>A (p.Leu105=) n.547G>A | dbSNP gnomAD v4 |
| 16 | g.173582G>C | CA492785587 | HBA2 | c.411G>C (p.Leu137=) c.315G>C (p.Leu105=) n.547G>C | |
| 16 | g.173582G= | CA2200880972 | HBA2 | c.411G= (p.Leu137=) c.315G= (p.Leu105=) n.547G= | |
| 16 | g.173582G>T | CA492785589 | HBA2 | c.411G>T (p.Leu137=) c.315G>T (p.Leu105=) n.547G>T | |
| 16 | g.173583A>C | CA393994662 | HBA2 | c.412A>C (p.Thr138Pro) c.316A>C (p.Thr106Pro) n.548A>C | |
| 16 | g.173583A>G | CA393994664 | HBA2 | c.412A>G (p.Thr138Ala) c.316A>G (p.Thr106Ala) n.548A>G | |
| 16 | g.173583A>T | CA393994663 | HBA2 | c.412A>T (p.Thr138Ser) c.316A>T (p.Thr106Ser) n.548A>T | |
| 16 | g.173584C>A | CA393994665 | HBA2 | c.413C>A (p.Thr138Asn) c.317C>A (p.Thr106Asn) n.549C>A | |
| 16 | g.173584C>G | CA393994667 | HBA2 | c.413C>G (p.Thr138Ser) c.317C>G (p.Thr106Ser) n.549C>G | |
| 16 | g.173584C>T | CA393994668 | HBA2 | c.413C>T (p.Thr138Ile) c.317C>T (p.Thr106Ile) n.549C>T | COSMIC |
| 16 | g.173585C>A | CA492785599 | HBA2 | c.414C>A (p.Thr138=) c.318C>A (p.Thr106=) n.550C>A | |
| 16 | g.173585C= | CA2200880973 | HBA2 | c.414C= (p.Thr138=) c.318C= (p.Thr106=) n.550C= | |
| 16 | g.173585C>G | CA492785601 | HBA2 | c.414C>G (p.Thr138=) c.318C>G (p.Thr106=) n.550C>G | |
| 16 | g.173585C>T | CA7770186 | HBA2 | c.414C>T (p.Thr138=) c.318C>T (p.Thr106=) n.550C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173586T>A | CA393994671 | HBA2 | c.415T>A (p.Ser139Thr) c.319T>A (p.Ser107Thr) n.551T>A | |
| 16 | g.173586T>C | CA276415526 | HBA2 | c.415T>C (p.Ser139Pro) c.319T>C (p.Ser107Pro) n.551T>C | dbSNP |
| 16 | g.173586T>G | CA393994672 | HBA2 | c.415T>G (p.Ser139Ala) c.319T>G (p.Ser107Ala) n.551T>G | |
| 16 | g.173586T= | CA2200880974 | HBA2 | c.415T= (p.Ser139=) c.319T= (p.Ser107=) n.551T= | |
| 16 | g.173587C>A | CA393994674 | HBA2 | c.416C>A (p.Ser139Tyr) c.320C>A (p.Ser107Tyr) n.552C>A | |
| 16 | g.173587C= | CA2200880975 | HBA2 | c.416C= (p.Ser139=) c.320C= (p.Ser107=) n.552C= | |
| 16 | g.173587C>G | CA393994676 | HBA2 | c.416C>G (p.Ser139Cys) c.320C>G (p.Ser107Cys) n.552C>G | COSMIC |
| 16 | g.173587C>T | CA276415530 | HBA2 | c.416C>T (p.Ser139Phe) c.320C>T (p.Ser107Phe) n.552C>T | dbSNP |
| 16 | g.173588C>A | CA7770187 | HBA2 | c.417C>A (p.Ser139=) c.321C>A (p.Ser107=) n.553C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.173588C= | CA2200880977 | HBA2 | c.417C= (p.Ser139=) c.321C= (p.Ser107=) n.553C= | |
| 16 | g.173588C>G | CA492785617 | HBA2 | c.417C>G (p.Ser139=) c.321C>G (p.Ser107=) n.553C>G | |
| 16 | g.173588C>T | CA492785618 | HBA2 | c.417C>T (p.Ser139=) c.321C>T (p.Ser107=) n.553C>T | |
| 16 | g.173588_173589delinsCA | CA2200880976 | HBA2 | c.417_418delinsCA (p.Ser139=) c.321_322delinsCA (p.Ser107=) n.553_554delinsCA | |
| 16 | g.173589A= | CA2200880978 | HBA2 | c.418A= (p.Lys140=) c.322A= (p.Lys108=) n.554A= | |
| 16 | g.173589A>C | CA393994678 | HBA2 | c.418A>C (p.Lys140Gln) c.322A>C (p.Lys108Gln) n.554A>C | gnomAD v4 |
| 16 | g.173589A>G | CA125584 | HBA2 | c.418A>G (p.Lys140Glu) c.322A>G (p.Lys108Glu) n.554A>G | ClinVar dbSNP |
| 16 | g.173589A>T | CA393994680 | HBA2 | c.418A>T (p.Lys140Ter) c.322A>T (p.Lys108Ter) n.554A>T | |
| 16 | g.173591del | CA125556 | HBA2 | c.420del (p.Lys140AsnfsTer9) c.324del (p.Lys108AsnfsTer9) n.556del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.173590A= | CA2200880979 | HBA2 | c.419A= (p.Lys140=) c.323A= (p.Lys108=) n.555A= | |
| 16 | g.173590A>C | CA276415543 | HBA2 | c.419A>C (p.Lys140Thr) c.323A>C (p.Lys108Thr) n.555A>C | dbSNP gnomAD v4 |
| 16 | g.173590A>G | CA393994681 | HBA2 | c.419A>G (p.Lys140Arg) c.323A>G (p.Lys108Arg) n.555A>G | |
| 16 | g.173590A>T | CA393994682 | HBA2 | c.419A>T (p.Lys140Ile) c.323A>T (p.Lys108Ile) n.555A>T | |
| 16 | g.173590_173591insT | CA1139664213 | HBA2 | c.419_420insT (p.Lys140AsnfsTer?) c.323_324insT (p.Lys108AsnfsTer?) n.555_556insT | ClinVar dbSNP |
| 16 | g.173591A= | CA2200880980 | HBA2 | c.420A= (p.Lys140=) c.324A= (p.Lys108=) n.556A= | |
| 16 | g.173591A>C | CA125644 | HBA2 | c.420A>C (p.Lys140Asn) c.324A>C (p.Lys108Asn) n.556A>C | ClinVar dbSNP gnomAD v4 |
| 16 | g.173591A>G | CA492785641 | HBA2 | c.420A>G (p.Lys140=) c.324A>G (p.Lys108=) n.556A>G | |
| 16 | g.173591A>T | CA393994683 | HBA2 | c.420A>T (p.Lys140Asn) c.324A>T (p.Lys108Asn) n.556A>T | |
| 16 | g.173592T>A | CA393994684 | HBA2 | c.421T>A (p.Tyr141Asn) c.325T>A (p.Tyr109Asn) n.557T>A | |
| 16 | g.173592T>C | CA276415549 | HBA2 | c.421T>C (p.Tyr141His) c.325T>C (p.Tyr109His) n.557T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.173592T>G | CA393994685 | HBA2 | c.421T>G (p.Tyr141Asp) c.325T>G (p.Tyr109Asp) n.557T>G | |
| 16 | g.173592T= | CA2200880981 | HBA2 | c.421T= (p.Tyr141=) c.325T= (p.Tyr109=) n.557T= | |
| 16 | g.173593A>C | CA393994686 | HBA2 | c.422A>C (p.Tyr141Ser) c.326A>C (p.Tyr109Ser) n.558A>C | gnomAD v4 |
| 16 | g.173593A>G | CA393994687 | HBA2 | c.422A>G (p.Tyr141Cys) c.326A>G (p.Tyr109Cys) n.558A>G | |
| 16 | g.173593A>T | CA393994688 | HBA2 | c.422A>T (p.Tyr141Phe) c.326A>T (p.Tyr109Phe) n.558A>T | |
| 16 | g.173594C>A | CA125604 | HBA2 | c.423C>A (p.Tyr141Ter) c.327C>A (p.Tyr109Ter) n.559C>A | ClinVar dbSNP |
| 16 | g.173594C= | CA2200880982 | HBA2 | c.423C= (p.Tyr141=) c.327C= (p.Tyr109=) n.559C= | |
| 16 | g.173594C>G | CA393994689 | HBA2 | c.423C>G (p.Tyr141Ter) c.327C>G (p.Tyr109Ter) n.559C>G | |
| 16 | g.173594C>T | CA492785652 | HBA2 | c.423C>T (p.Tyr141=) c.327C>T (p.Tyr109=) n.559C>T | |
| 16 | g.173595C>A | CA276415556 | HBA2 | c.424C>A (p.Arg142Ser) c.328C>A (p.Arg110Ser) n.560C>A | dbSNP |
| 16 | g.173595C= | CA2200880983 | HBA2 | c.424C= (p.Arg142=) c.328C= (p.Arg110=) n.560C= | |
| 16 | g.173595C>G | CA276415558 | HBA2 | c.424C>G (p.Arg142Gly) c.328C>G (p.Arg110Gly) n.560C>G | dbSNP |
| 16 | g.173595C>T | CA276415566 | HBA2 | c.424C>T (p.Arg142Cys) c.328C>T (p.Arg110Cys) n.560C>T | dbSNP |
| 16 | g.173596G>A | CA7770188 | HBA2 | c.425G>A (p.Arg142His) c.329G>A (p.Arg110His) n.561G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.173596G>C | CA276415569 | HBA2 | c.425G>C (p.Arg142Pro) c.329G>C (p.Arg110Pro) n.561G>C | dbSNP |
| 16 | g.173596G= | CA2200880984 | HBA2 | c.425G= (p.Arg142=) c.329G= (p.Arg110=) n.561G= | |
| 16 | g.173596G>T | CA276415575 | HBA2 | c.425G>T (p.Arg142Leu) c.329G>T (p.Arg110Leu) n.561G>T | dbSNP |
| 16 | g.173597T>A | CA492785662 | HBA2 | c.426T>A (p.Arg142=) c.330T>A (p.Arg110=) n.562T>A | |
| 16 | g.173597T>C | CA492785664 | HBA2 | c.426T>C (p.Arg142=) c.330T>C (p.Arg110=) n.562T>C | |
| 16 | g.173597T>G | CA492785666 | HBA2 | c.426T>G (p.Arg142=) c.330T>G (p.Arg110=) n.562T>G | gnomAD v4 |
| 16 | g.173598T>A | CA125550 | HBA2 | c.427T>A (p.Ter143Lys) c.331T>A (p.Ter111Lys) n.563T>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.173598T>C | CA125546 | HBA2 | c.427T>C (p.Ter143Gln) c.331T>C (p.Ter111Gln) n.563T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173598T>G | CA125597 | HBA2 | c.427T>G (p.Ter143Glu) c.331T>G (p.Ter111Glu) n.563T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173598T= | CA2200880986 | HBA2 | c.427T= (p.Ter143=) c.331T= (p.Ter111=) n.563T= | |
| 16 | g.173598_173600delinsCAT | CA276415583 | HBA2 | c.427_429delinsCAT (p.Ter143His) c.331_333delinsCAT (p.Ter111His) n.563_565delinsCAT | dbSNP |
| 16 | g.173598_173600delinsTAA | CA2200880987 | HBA2 | c.427_429delinsTAA (p.Ter143=) c.331_333delinsTAA (p.Ter111=) n.563_565delinsTAA | |
| 16 | g.173598_173602delinsTAAGC | CA2200880985 | HBA2 | c.427_*2delinsTAAGC (n.[c.427_*2delinsTAAGC;Ter143=]) c.331_*2delinsTAAGC (n.[c.331_*2delinsTAAGC;Ter111=]) n.563_567delinsTAAGC | |
| 16 | g.173599A= | CA2200880988 | HBA2 | c.428A= (p.Ter143=) c.332A= (p.Ter111=) n.564A= | |
| 16 | g.173599A>C | CA125552 | HBA2 | c.428A>C (p.Ter143Ser) c.332A>C (p.Ter111Ser) n.564A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.173599A>G | CA492785669 | HBA2 | c.428A>G (p.Ter143=) c.332A>G (p.Ter111=) n.564A>G | |
| 16 | g.173599A>T | CA393994690 | HBA2 | c.428A>T (p.Ter143Leu) c.332A>T (p.Ter111Leu) n.564A>T | dbSNP |
| 16 | g.173599_173602del | CA973582662 | HBA2 | c.428_*2del (n.[c.428_*2del;Ter143LeuextTer5]) c.332_*2del (n.[c.332_*2del;Ter111LeuextTer5]) n.564_567del | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.173600A= | CA2200880989 | HBA2 | c.429A= (p.Ter143=) c.333A= (p.Ter111=) n.565A= | |
| 16 | g.173600A>C | CA393994691 | HBA2 | c.429A>C (p.Ter143Tyr) c.333A>C (p.Ter111Tyr) n.565A>C | |
| 16 | g.173600A>G | CA492785678 | HBA2 | c.429A>G (p.Ter143=) c.333A>G (p.Ter111=) n.565A>G | gnomAD v4 |
| 16 | g.173600A>T | CA125595 | HBA2 | c.429A>T (p.Ter143Tyr) c.333A>T (p.Ter111Tyr) n.565A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.173600_173601delinsAG | CA2200880990 | HBA2 | c.429_*1delinsAG (n.[c.429_*1delinsAG;Ter143=]) c.333_*1delinsAG (n.[c.333_*1delinsAG;Ter111=]) n.565_566delinsAG | |
| 16 | g.173601del | CA7770189 | HBA2 | c.*1del (n.*1del) n.566del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.173601G>C | CA7770190 | HBA2 | c.*1G>C (n.*1G>C) n.566G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173601G= | CA2200880991 | HBA2 | c.*1G= (n.*1G=) n.566G= | |
| 16 | g.173603T>A | CA7770191 | HBA2 | c.*3T>A (n.*3T>A) n.568T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.173603T>G | CA2731577815 | HBA2 | c.*3T>G (n.*3T>G) n.568T>G | dbSNP |
| 16 | g.173603T= | CA2200880992 | HBA2 | c.*3T= (n.*3T=) n.568T= | |
| 16 | g.173604G>C | CA2731773134 | HBA2 | c.*4G>C (n.*4G>C) n.569G>C | dbSNP |
| 16 | g.173605del | CA2575852859 | HBA2 | c.*5del (n.*5del) n.570del | |
| 16 | g.173605G>C | CA2630738054 | HBA2 | c.*5G>C (n.*5G>C) n.570G>C | gnomAD v4 |
| 16 | g.173607G>T | CA2731773154 | HBA2 | c.*7G>T (n.*7G>T) n.572G>T | dbSNP |
| 16 | g.173608C>A | CA2630738065 | HBA2 | c.*8C>A (n.*8C>A) n.573C>A | gnomAD v4 |
| 16 | g.173608C= | CA2200880993 | HBA2 | c.*8C= (n.*8C=) n.573C= | |
| 16 | g.173608C>G | CA620304377 | HBA2 | c.*8C>G (n.*8C>G) n.573C>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.173608C>T | CA7770192 | HBA2 | c.*8C>T (n.*8C>T) n.573C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173609C>A | CA2630738066 | HBA2 | c.*9C>A (n.*9C>A) n.574C>A | gnomAD v4 |
| 16 | g.173609C>G | CA2805501789 | HBA2 | c.*9C>G (n.*9C>G) n.574C>G | |
| 16 | g.173611C= | CA2200880994 | HBA2 | c.*11C= (n.*11C=) n.576C= | |
| 16 | g.173611C>G | CA2200880995 | HBA2 | c.*11C>G (n.*11C>G) n.576C>G | dbSNP |
| 16 | g.173611C>T | CA973582670 | HBA2 | c.*11C>T (n.*11C>T) n.576C>T | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.173612G>A | CA620304378 | HBA2 | c.*12G>A (n.*12G>A) n.577G>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.173612G>C | CA620304379 | HBA2 | c.*12G>C (n.*12G>C) n.577G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173612G= | CA2200880996 | HBA2 | c.*12G= (n.*12G=) n.577G= | |
| 16 | g.173612G>T | CA973582673 | HBA2 | c.*12G>T (n.*12G>T) n.577G>T | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.173613G>A | CA2575852860 | HBA2 | c.*13G>A (n.*13G>A) n.578G>A | |
| 16 | g.173613G= | CA2200880997 | HBA2 | c.*13G= (n.*13G=) n.578G= | |
| 16 | g.173613G>T | CA7770193 | HBA2 | c.*13G>T (n.*13G>T) n.578G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.173614T>G | CA7770194 | HBA2 | c.*14T>G (n.*14T>G) n.579T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.173614T= | CA2200880998 | HBA2 | c.*14T= (n.*14T=) n.579T= | |
| 16 | g.173615A= | CA2200880999 | HBA2 | c.*15A= (n.*15A=) n.580A= | |
| 16 | g.173615A>G | CA7770195 | HBA2 | c.*15A>G (n.*15A>G) n.580A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173617C>T | CA2575852861 | HBA2 | c.*17C>T (n.*17C>T) n.582C>T | |
| 16 | g.173618C>A | CA2569709172 | HBA2 | c.*18C>A (n.*18C>A) n.583C>A | |
| 16 | g.173618C= | CA2200881000 | HBA2 | c.*18C= (n.*18C=) n.583C= | |
| 16 | g.173618C>G | CA7770196 | HBA2 | c.*18C>G (n.*18C>G) n.583C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173618C>T | CA2561022473 | HBA2 | c.*18C>T (n.*18C>T) n.583C>T | gnomAD v4 |
| 16 | g.173619G>A | CA7770197 | HBA2 | c.*19G>A (n.*19G>A) n.584G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.173619G>C | CA2630738070 | HBA2 | c.*19G>C (n.*19G>C) n.584G>C | gnomAD v4 |
| 16 | g.173619G= | CA2200881001 | HBA2 | c.*19G= (n.*19G=) n.584G= | |
| 16 | g.173619G>T | CA2630738071 | HBA2 | c.*19G>T (n.*19G>T) n.584G>T | gnomAD v4 |
| 16 | g.173621T>G | CA276415624 | HBA2 | c.*21T>G (n.*21T>G) n.586T>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.173621T= | CA2200881002 | HBA2 | c.*21T= (n.*21T=) n.586T= | |
| 16 | g.173622C= | CA2200881003 | HBA2 | c.*22C= (n.*22C=) n.587C= | |
| 16 | g.173622C>T | CA276415625 | HBA2 | c.*22C>T (n.*22C>T) n.587C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.173623C>A | CA2731566240 | HBA2 | c.*23C>A (n.*23C>A) n.588C>A | dbSNP |
| 16 | g.173623C= | CA2200881004 | HBA2 | c.*23C= (n.*23C=) n.588C= | |
| 16 | g.173623C>T | CA276415626 | HBA2 | c.*23C>T (n.*23C>T) n.588C>T | dbSNP gnomAD v4 |
| 16 | g.173624T>G | CA620304380 | HBA2 | c.*24T>G (n.*24T>G) n.589T>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.173624T= | CA2200881005 | HBA2 | c.*24T= (n.*24T=) n.589T= | |
| 16 | g.173625C>A | CA2630738074 | HBA2 | c.*25C>A (n.*25C>A) n.590C>A | gnomAD v4 |
| 16 | g.173625C= | CA2200881006 | HBA2 | c.*25C= (n.*25C=) n.590C= | |
| 16 | g.173625C>T | CA620304381 | HBA2 | c.*25C>T (n.*25C>T) n.590C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.173626C= | CA2200881007 | HBA2 | c.*26C= (n.*26C=) n.591C= | |
| 16 | g.173626C>T | CA276415627 | HBA2 | c.*26C>T (n.*26C>T) n.591C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.173627T>A | CA2575852862 | HBA2 | c.*27T>A (n.*27T>A) n.592T>A | gnomAD v4 |
| 16 | g.173628G>A | CA2630738076 | HBA2 | c.*28G>A (n.*28G>A) n.593G>A | gnomAD v4 |
| 16 | g.173628G>C | CA2630738077 | HBA2 | c.*28G>C (n.*28G>C) n.593G>C | gnomAD v4 |
| 16 | g.173629C>A | CA2630738079 | HBA2 | c.*29C>A (n.*29C>A) n.594C>A | gnomAD v4 |
| 16 | g.173629C= | CA2200881008 | HBA2 | c.*29C= (n.*29C=) n.594C= | |
| 16 | g.173629C>T | CA7770198 | HBA2 | c.*29C>T (n.*29C>T) n.594C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173630C= | CA2200881009 | HBA2 | c.*30C= (n.*30C=) n.595C= | |
| 16 | g.173630C>G | CA276415630 | HBA2 | c.*30C>G (n.*30C>G) n.595C>G | dbSNP |
| 16 | g.173630C>T | CA973582679 | HBA2 | c.*30C>T (n.*30C>T) n.595C>T | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.173631C= | CA2200881011 | HBA2 | c.*31C= (n.*31C=) n.596C= | |
| 16 | g.173631C>G | CA2805501792 | HBA2 | c.*31C>G (n.*31C>G) n.596C>G | |
| 16 | g.173631C>T | CA2200881012 | HBA2 | c.*31C>T (n.*31C>T) n.596C>T | dbSNP gnomAD v4 |
| 16 | g.173631_173632delinsCG | CA2200881010 | HBA2 | c.*31_*32delinsCG (n.*31_*32delinsCG) n.596_597delinsCG | |
| 16 | g.173632del | CA919635921 | HBA2 | c.*32del (n.*32del) n.597del | dbSNP |
| 16 | g.173632G>A | CA7770199 | HBA2 | c.*32G>A (n.*32G>A) n.597G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173632G>C | CA276415639 | HBA2 | c.*32G>C (n.*32G>C) n.597G>C | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.173632G= | CA2200881014 | HBA2 | c.*32G= (n.*32G=) n.597G= | |
| 16 | g.173632G>T | CA7770200 | HBA2 | c.*32G>T (n.*32G>T) n.597G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173632_173633delinsGC | CA2200881013 | HBA2 | c.*32_*33delinsGC (n.*32_*33delinsGC) n.597_598delinsGC | |
| 16 | g.173633del | CA919635922 | HBA2 | c.*33del (n.*33del) n.598del | dbSNP |
| 16 | g.173633C>A | CA276415643 | HBA2 | c.*33C>A (n.*33C>A) n.598C>A | dbSNP |
| 16 | g.173633C= | CA2200881015 | HBA2 | c.*33C= (n.*33C=) n.598C= | |
| 16 | g.173633C>G | CA718604030 | HBA2 | c.*33C>G (n.*33C>G) n.598C>G | dbSNP |
| 16 | g.173633C>T | CA276415647 | HBA2 | c.*33C>T (n.*33C>T) n.598C>T | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.173636G= | CA2200881016 | HBA2 | c.*36G= (n.*36G=) n.601G= | |
| 16 | g.173636G>T | CA7770201 | HBA2 | c.*36G>T (n.*36G>T) n.601G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.173637G>A | CA7770202 | HBA2 | c.*37G>A (n.*37G>A) n.602G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.173637G= | CA2200881017 | HBA2 | c.*37G= (n.*37G=) n.602G= | |
| 16 | g.173638C>A | CA7770203 | HBA2 | c.*38C>A (n.*38C>A) n.603C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.173638C= | CA2200881018 | HBA2 | c.*38C= (n.*38C=) n.603C= | |
| 16 | g.173639C>A | CA2630738085 | HBA2 | c.*39C>A (n.*39C>A) n.604C>A | gnomAD v4 |
| 16 | g.173639C= | CA2200881019 | HBA2 | c.*39C= (n.*39C=) n.604C= | |
| 16 | g.173639C>G | CA2740096797 | HBA2 | c.*39C>G (n.*39C>G) n.604C>G | ClinVar |
| 16 | g.173639C>T | CA973582686 | HBA2 | c.*39C>T (n.*39C>T) n.604C>T | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.173640T>G | CA2740096798 | HBA2 | c.*40T>G (n.*40T>G) n.605T>G | ClinVar |
| 16 | g.173641C= | CA2200881020 | HBA2 | c.*41C= (n.*41C=) n.606C= | |
| 16 | g.173641C>T | CA276415662 | HBA2 | c.*41C>T (n.*41C>T) n.606C>T | dbSNP |
| 16 | g.173642C= | CA2200881021 | HBA2 | c.*42C= (n.*42C=) n.607C= | |
| 16 | g.173642C>G | CA973582688 | HBA2 | c.*42C>G (n.*42C>G) n.607C>G | dbSNP |
| 16 | g.173642C>T | CA2630738087 | HBA2 | c.*42C>T (n.*42C>T) n.607C>T | gnomAD v4 |
| 16 | g.173643C>A | CA620304383 | HBA2 | c.*43C>A (n.*43C>A) n.608C>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.173643C= | CA2200881022 | HBA2 | c.*43C= (n.*43C=) n.608C= | |
| 16 | g.173643C>T | CA2630738088 | HBA2 | c.*43C>T (n.*43C>T) n.608C>T | gnomAD v4 |
| 16 | g.173644_173650dup | CA620304382 | HBA2 | c.*44_*50dup (n.*44_*50dup) n.609_615dup | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.173644A= | CA2200881023 | HBA2 | c.*44A= (n.*44A=) n.609A= | |
| 16 | g.173644A>C | CA276415665 | HBA2 | c.*44A>C (n.*44A>C) n.609A>C | dbSNP gnomAD v4 |
| 16 | g.173644A>G | CA620304384 | HBA2 | c.*44A>G (n.*44A>G) n.609A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173645A= | CA2200881024 | HBA2 | c.*45A= (n.*45A=) n.610A= | |
| 16 | g.173645A>C | CA276415670 | HBA2 | c.*45A>C (n.*45A>C) n.610A>C | dbSNP gnomAD v4 |
| 16 | g.173645A>G | CA7770204 | HBA2 | c.*45A>G (n.*45A>G) n.610A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173646C>A | CA645509204 | HBA2 | c.*46C>A (n.*46C>A) n.611C>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.173646C= | CA2200881025 | HBA2 | c.*46C= (n.*46C=) n.611C= | |
| 16 | g.173646C>T | CA7770205 | HBA2 | c.*46C>T (n.*46C>T) n.611C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.173647G>A | CA7770207 | HBA2 | c.*47G>A (n.*47G>A) n.612G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173647G>C | CA7770206 | HBA2 | c.*47G>C (n.*47G>C) n.612G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173647G= | CA2200881026 | HBA2 | c.*47G= (n.*47G=) n.612G= | |
| 16 | g.173649G>A | CA7770208 | HBA2 | c.*49G>A (n.*49G>A) n.614G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173649G>C | CA276415680 | HBA2 | c.*49G>C (n.*49G>C) n.614G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173649G= | CA2200881027 | HBA2 | c.*49G= (n.*49G=) n.614G= | |
| 16 | g.173649G>T | CA2805501794 | HBA2 | c.*49G>T (n.*49G>T) n.614G>T | |
| 16 | g.173650C>A | CA2575852870 | HBA2 | c.*50C>A (n.*50C>A) n.615C>A | |
| 16 | g.173650C= | CA2200881028 | HBA2 | c.*50C= (n.*50C=) n.615C= | |
| 16 | g.173650C>T | CA718604044 | HBA2 | c.*50C>T (n.*50C>T) n.615C>T | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.173651C>A | CA973582704 | HBA2 | c.*51C>A (n.*51C>A) n.616C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.173651C= | CA2200881029 | HBA2 | c.*51C= (n.*51C=) n.616C= | |
| 16 | g.173651C>T | CA620304385 | HBA2 | c.*51C>T (n.*51C>T) n.616C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.173652C= | CA2200881030 | HBA2 | c.*52C= (n.*52C=) n.617C= | |
| 16 | g.173652C>G | CA2630738093 | HBA2 | c.*52C>G (n.*52C>G) n.617C>G | gnomAD v4 |
| 16 | g.173652C>T | CA718604050 | HBA2 | c.*52C>T (n.*52C>T) n.617C>T | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.173653T>C | CA2575852871 | HBA2 | c.*53T>C (n.*53T>C) n.618T>C | |
| 16 | g.173654C>G | CA2519571251 | HBA2 | c.*54C>G (n.*54C>G) n.619C>G |