| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.171847_181556del | CA916083461 | ClinVar | ||
| 16 | g.172001_181401del | CA916083462 | ClinVar | ||
| 16 | g.177149_177753delinsAAGTAGA | CA915940715 | |||
| 16 | g.177380_177383dup | CA2575852724 | HBA1 | c.398_401dup (p.Thr135GlufsTer?) c.302_305dup (p.Thr103GlufsTer?) n.534_537dup | |
| 16 | g.177380T>A | CA393996007 | HBA1 | c.398T>A (p.Val133Glu) c.302T>A (p.Val101Glu) n.534T>A | |
| 16 | g.177380T>C | CA393996008 | HBA1 | c.398T>C (p.Val133Ala) c.302T>C (p.Val101Ala) n.534T>C | |
| 16 | g.177380T>G | CA125955 | HBA1 | c.398T>G (p.Val133Gly) c.302T>G (p.Val101Gly) n.534T>G | ClinVar dbSNP |
| 16 | g.177380T= | CA2200883303 | HBA1 | c.398T= (p.Val133=) c.302T= (p.Val101=) n.534T= | |
| 16 | g.177381G>A | CA492994478 | HBA1 | c.399G>A (p.Val133=) c.303G>A (p.Val101=) n.535G>A | |
| 16 | g.177381G>C | CA492994476 | HBA1 | c.399G>C (p.Val133=) c.303G>C (p.Val101=) n.535G>C | |
| 16 | g.177381G>T | CA492994477 | HBA1 | c.399G>T (p.Val133=) c.303G>T (p.Val101=) n.535G>T | |
| 16 | g.177382A= | CA2200883304 | HBA1 | c.400A= (p.Ser134=) c.304A= (p.Ser102=) n.536A= | |
| 16 | g.177382A>C | CA276417248 | HBA1 | c.400A>C (p.Ser134Arg) c.304A>C (p.Ser102Arg) n.536A>C | dbSNP |
| 16 | g.177382A>G | CA393996009 | HBA1 | c.400A>G (p.Ser134Gly) c.304A>G (p.Ser102Gly) n.536A>G | |
| 16 | g.177382A>T | CA393996010 | HBA1 | c.400A>T (p.Ser134Cys) c.304A>T (p.Ser102Cys) n.536A>T | |
| 16 | g.177383G>A | CA276417252 | HBA1 | c.401G>A (p.Ser134Asn) c.305G>A (p.Ser102Asn) n.537G>A | dbSNP gnomAD v4 |
| 16 | g.177383G>C | CA393996011 | HBA1 | c.401G>C (p.Ser134Thr) c.305G>C (p.Ser102Thr) n.537G>C | |
| 16 | g.177383G= | CA2200883305 | HBA1 | c.401G= (p.Ser134=) c.305G= (p.Ser102=) n.537G= | |
| 16 | g.177383G>T | CA393996012 | HBA1 | c.401G>T (p.Ser134Ile) c.305G>T (p.Ser102Ile) n.537G>T | |
| 16 | g.177383_177385delinsGCA | CA2200883306 | HBA1 | c.401_403delinsGCA (p.Ser134=) c.305_307delinsGCA (p.Ser102=) n.537_539delinsGCA | |
| 16 | g.177385_177391del | CA2739290704 | HBA1 | c.403_409del (p.Thr135Ter) c.307_313del (p.Thr103Ter) n.539_545del | |
| 16 | g.177384C>A | CA276417256 | HBA1 | c.402C>A (p.Ser134Arg) c.306C>A (p.Ser102Arg) n.538C>A | dbSNP |
| 16 | g.177384C= | CA2200883307 | HBA1 | c.402C= (p.Ser134=) c.306C= (p.Ser102=) n.538C= | |
| 16 | g.177384C>G | CA276417259 | HBA1 | c.402C>G (p.Ser134Arg) c.306C>G (p.Ser102Arg) n.538C>G | dbSNP |
| 16 | g.177384C>T | CA492994480 | HBA1 | c.402C>T (p.Ser134=) c.306C>T (p.Ser102=) n.538C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.177385_177386del | CA718607494 | HBA1 | c.403_404del (p.Thr135ArgfsTer?) c.307_308del (p.Thr103ArgfsTer?) n.539_540del | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.177385A= | CA2200883309 | HBA1 | c.403A= (p.Thr135=) c.307A= (p.Thr103=) n.539A= | |
| 16 | g.177385A>C | CA393996013 | HBA1 | c.403A>C (p.Thr135Pro) c.307A>C (p.Thr103Pro) n.539A>C | |
| 16 | g.177385A>G | CA393996014 | HBA1 | c.403A>G (p.Thr135Ala) c.307A>G (p.Thr103Ala) n.539A>G | |
| 16 | g.177385A>T | CA276417266 | HBA1 | c.403A>T (p.Thr135Ser) c.307A>T (p.Thr103Ser) n.539A>T | dbSNP |
| 16 | g.177385_177386delinsAC | CA2200883308 | HBA1 | c.403_404delinsAC (p.Thr135=) c.307_308delinsAC (p.Thr103=) n.539_540delinsAC | |
| 16 | g.177386C>A | CA393996015 | HBA1 | c.404C>A (p.Thr135Asn) c.308C>A (p.Thr103Asn) n.540C>A | |
| 16 | g.177386C= | CA2200883310 | HBA1 | c.404C= (p.Thr135=) c.308C= (p.Thr103=) n.540C= | |
| 16 | g.177386C>G | CA276417272 | HBA1 | c.404C>G (p.Thr135Ser) c.308C>G (p.Thr103Ser) n.540C>G | dbSNP gnomAD v4 |
| 16 | g.177386C>T | CA7770291 | HBA1 | c.404C>T (p.Thr135Ile) c.308C>T (p.Thr103Ile) n.540C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.177387del | CA276417269 | HBA1 | c.405del (p.Val136CysfsTer2) c.309del (p.Val104CysfsTer2) n.541del | dbSNP |
| 16 | g.177387C>A | CA492994485 | HBA1 | c.405C>A (p.Thr135=) c.309C>A (p.Thr103=) n.541C>A | |
| 16 | g.177387C= | CA2200883311 | HBA1 | c.405C= (p.Thr135=) c.309C= (p.Thr103=) n.541C= | |
| 16 | g.177387C>G | CA492994486 | HBA1 | c.405C>G (p.Thr135=) c.309C>G (p.Thr103=) n.541C>G | gnomAD v4 |
| 16 | g.177387C>T | CA492994487 | HBA1 | c.405C>T (p.Thr135=) c.309C>T (p.Thr103=) n.541C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.177388G>A | CA276417276 | HBA1 | c.406G>A (p.Val136Met) c.310G>A (p.Val104Met) n.542G>A | dbSNP |
| 16 | g.177388G>C | CA393996016 | HBA1 | c.406G>C (p.Val136Leu) c.310G>C (p.Val104Leu) n.542G>C | |
| 16 | g.177388G= | CA2200883312 | HBA1 | c.406G= (p.Val136=) c.310G= (p.Val104=) n.542G= | |
| 16 | g.177388G>T | CA393996017 | HBA1 | c.406G>T (p.Val136Leu) c.310G>T (p.Val104Leu) n.542G>T | |
| 16 | g.177389T>A | CA125937 | HBA1 | c.407T>A (p.Val136Glu) c.311T>A (p.Val104Glu) n.543T>A | ClinVar dbSNP |
| 16 | g.177389T>C | CA393996018 | HBA1 | c.407T>C (p.Val136Ala) c.311T>C (p.Val104Ala) n.543T>C | gnomAD v4 |
| 16 | g.177389T>G | CA393996019 | HBA1 | c.407T>G (p.Val136Gly) c.311T>G (p.Val104Gly) n.543T>G | |
| 16 | g.177389T= | CA2200883313 | HBA1 | c.407T= (p.Val136=) c.311T= (p.Val104=) n.543T= | |
| 16 | g.177390_177397del | CA2575852733 | HBA1 | c.408_415del (p.Leu137GlnfsTer?) c.312_319del (p.Leu105GlnfsTer?) n.544_551del | |
| 16 | g.177390G>A | CA492994489 | HBA1 | c.408G>A (p.Val136=) c.312G>A (p.Val104=) n.544G>A | dbSNP gnomAD v4 |