| 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.177292C>A | CA393995772 | HBA1 | c.310C>A (p.His104Asn) c.214C>A (p.His72Asn) n.446C>A | |
| 16 | g.177292C= | CA2200883236 | HBA1 | c.310C= (p.His104=) c.214C= (p.His72=) n.446C= | |
| 16 | g.177292C>G | CA393995774 | HBA1 | c.310C>G (p.His104Asp) c.214C>G (p.His72Asp) n.446C>G | |
| 16 | g.177292C>T | CA125999 | HBA1 | c.310C>T (p.His104Tyr) c.214C>T (p.His72Tyr) n.446C>T | ClinVar dbSNP |
| 16 | g.177293A= | CA2200883238 | HBA1 | c.311A= (p.His104=) c.215A= (p.His72=) n.447A= | |
| 16 | g.177293A>C | CA393995776 | HBA1 | c.311A>C (p.His104Pro) c.215A>C (p.His72Pro) n.447A>C | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.177293A>G | CA125705 | HBA1 | c.311A>G (p.His104Arg) c.215A>G (p.His72Arg) n.447A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.177293A>T | CA393995777 | HBA1 | c.311A>T (p.His104Leu) c.215A>T (p.His72Leu) n.447A>T | |
| 16 | g.177293_177309delinsACTGCCTGCTGGTGACC | CA2200883237 | HBA1 | c.311_327delinsACTGCCTGCTGGTGACC (p.His104=) c.215_231delinsACTGCCTGCTGGTGACC (p.His72=) n.447_463delinsACTGCCTGCTGGTGACC | |
| 16 | g.177294C>A | CA393995779 | HBA1 | c.312C>A (p.His104Gln) c.216C>A (p.His72Gln) n.448C>A | |
| 16 | g.177294C= | CA2200883239 | HBA1 | c.312C= (p.His104=) c.216C= (p.His72=) n.448C= | |
| 16 | g.177294C>G | CA393995781 | HBA1 | c.312C>G (p.His104Gln) c.216C>G (p.His72Gln) n.448C>G | dbSNP gnomAD v4 |
| 16 | g.177294C>T | CA492994377 | HBA1 | c.312C>T (p.His104=) c.216C>T (p.His72=) n.448C>T | |
| 16 | g.177297_177312del | CA620304282 | HBA1 | c.315_330del (p.Cys105TrpfsTer24) c.219_234del (p.Cys73TrpfsTer24) n.451_466del | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.177295T>A | CA126023 | HBA1 | c.313T>A (p.Cys105Ser) c.217T>A (p.Cys73Ser) n.449T>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.177295T>C | CA393995783 | HBA1 | c.313T>C (p.Cys105Arg) c.217T>C (p.Cys73Arg) n.449T>C | |
| 16 | g.177295T>G | CA393995785 | HBA1 | c.313T>G (p.Cys105Gly) c.217T>G (p.Cys73Gly) n.449T>G | |
| 16 | g.177295T= | CA2200883240 | HBA1 | c.313T= (p.Cys105=) c.217T= (p.Cys73=) n.449T= | |
| 16 | g.177296G>A | CA393995791 | HBA1 | c.314G>A (p.Cys105Tyr) c.218G>A (p.Cys73Tyr) n.450G>A | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.177296G>C | CA393995787 | HBA1 | c.314G>C (p.Cys105Ser) c.218G>C (p.Cys73Ser) n.450G>C | |
| 16 | g.177296G= | CA2200883241 | HBA1 | c.314G= (p.Cys105=) c.218G= (p.Cys73=) n.450G= | |
| 16 | g.177296G>T | CA393995789 | HBA1 | c.314G>T (p.Cys105Phe) c.218G>T (p.Cys73Phe) n.450G>T | |
| 16 | g.177297C>A | CA393995792 | HBA1 | c.315C>A (p.Cys105Ter) c.219C>A (p.Cys73Ter) n.451C>A | |
| 16 | g.177297C= | CA2200883242 | HBA1 | c.315C= (p.Cys105=) c.219C= (p.Cys73=) n.451C= | |
| 16 | g.177297C>G | CA276417115 | HBA1 | c.315C>G (p.Cys105Trp) c.219C>G (p.Cys73Trp) n.451C>G | dbSNP gnomAD v4 |
| 16 | g.177297C>T | CA492994378 | HBA1 | c.315C>T (p.Cys105=) c.219C>T (p.Cys73=) n.451C>T | gnomAD v4 |
| 16 | g.177298C>A | CA393995794 | HBA1 | c.316C>A (p.Leu106Met) c.220C>A (p.Leu74Met) n.452C>A | |
| 16 | g.177298C>G | CA393995796 | HBA1 | c.316C>G (p.Leu106Val) c.220C>G (p.Leu74Val) n.452C>G | gnomAD v4 |
| 16 | g.177298C>T | CA492994379 | HBA1 | c.316C>T (p.Leu106=) c.220C>T (p.Leu74=) n.452C>T | |
| 16 | g.177299T>A | CA393995797 | HBA1 | c.317T>A (p.Leu106Gln) c.221T>A (p.Leu74Gln) n.453T>A | |
| 16 | g.177299T>C | CA393995799 | HBA1 | c.317T>C (p.Leu106Pro) c.221T>C (p.Leu74Pro) n.453T>C | gnomAD v4 |
| 16 | g.177299T>G | CA393995800 | HBA1 | c.317T>G (p.Leu106Arg) c.221T>G (p.Leu74Arg) n.453T>G | |
| 16 | g.177300G>A | CA492994380 | HBA1 | c.318G>A (p.Leu106=) c.222G>A (p.Leu74=) n.454G>A | dbSNP |
| 16 | g.177300G>C | CA492994381 | HBA1 | c.318G>C (p.Leu106=) c.222G>C (p.Leu74=) n.454G>C | dbSNP |
| 16 | g.177300G= | CA2200883243 | HBA1 | c.318G= (p.Leu106=) c.222G= (p.Leu74=) n.454G= | |
| 16 | g.177300G>T | CA492994382 | HBA1 | c.318G>T (p.Leu106=) c.222G>T (p.Leu74=) n.454G>T | |
| 16 | g.177301C>A | CA393995802 | HBA1 | c.319C>A (p.Leu107Met) c.223C>A (p.Leu75Met) n.455C>A | |
| 16 | g.177301C= | CA2200883244 | HBA1 | c.319C= (p.Leu107=) c.223C= (p.Leu75=) n.455C= | |
| 16 | g.177301C>G | CA393995804 | HBA1 | c.319C>G (p.Leu107Val) c.223C>G (p.Leu75Val) n.455C>G | |
| 16 | g.177301C>T | CA492994383 | HBA1 | c.319C>T (p.Leu107=) c.223C>T (p.Leu75=) n.455C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.177302T>A | CA393995806 | HBA1 | c.320T>A (p.Leu107Gln) c.224T>A (p.Leu75Gln) n.456T>A | |
| 16 | g.177302T>C | CA276417116 | HBA1 | c.320T>C (p.Leu107Pro) c.224T>C (p.Leu75Pro) n.456T>C | dbSNP |
| 16 | g.177302T>G | CA393995808 | HBA1 | c.320T>G (p.Leu107Arg) c.224T>G (p.Leu75Arg) n.456T>G | gnomAD v4 |
| 16 | g.177302T= | CA2200883245 | HBA1 | c.320T= (p.Leu107=) c.224T= (p.Leu75=) n.456T= | |
| 16 | g.177303G>A | CA492994384 | HBA1 | c.321G>A (p.Leu107=) c.225G>A (p.Leu75=) n.457G>A | |
| 16 | g.177303G>C | CA492994385 | HBA1 | c.321G>C (p.Leu107=) c.225G>C (p.Leu75=) n.457G>C | |
| 16 | g.177303G>T | CA492994386 | HBA1 | c.321G>T (p.Leu107=) c.225G>T (p.Leu75=) n.457G>T |