| 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.177293_177309delinsACTGCCTGCTGGTGACC | CA2200883237 | HBA1 | c.311_327delinsACTGCCTGCTGGTGACC (p.His104=) c.215_231delinsACTGCCTGCTGGTGACC (p.His72=) n.447_463delinsACTGCCTGCTGGTGACC | |
| 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.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 | 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 | |
| 16 | g.177304G>A | CA393995812 | HBA1 | c.322G>A (p.Val108Met) c.226G>A (p.Val76Met) n.458G>A | |
| 16 | g.177304G>C | CA393995813 | HBA1 | c.322G>C (p.Val108Leu) c.226G>C (p.Val76Leu) n.458G>C | |
| 16 | g.177304G>T | CA393995810 | HBA1 | c.322G>T (p.Val108Leu) c.226G>T (p.Val76Leu) n.458G>T | |
| 16 | g.177305T>A | CA393995815 | HBA1 | c.323T>A (p.Val108Glu) c.227T>A (p.Val76Glu) n.459T>A | |
| 16 | g.177305T>C | CA393995817 | HBA1 | c.323T>C (p.Val108Ala) c.227T>C (p.Val76Ala) n.459T>C | |
| 16 | g.177305T>G | CA393995818 | HBA1 | c.323T>G (p.Val108Gly) c.227T>G (p.Val76Gly) n.459T>G | |
| 16 | g.177306G>A | CA7770275 | HBA1 | c.324G>A (p.Val108=) c.228G>A (p.Val76=) n.460G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.177306G>C | CA492994387 | HBA1 | c.324G>C (p.Val108=) c.228G>C (p.Val76=) n.460G>C | |
| 16 | g.177306G= | CA2200883246 | HBA1 | c.324G= (p.Val108=) c.228G= (p.Val76=) n.460G= | |
| 16 | g.177306G>T | CA492994388 | HBA1 | c.324G>T (p.Val108=) c.228G>T (p.Val76=) n.460G>T | |
| 16 | g.177307A>C | CA393995821 | HBA1 | c.325A>C (p.Thr109Pro) c.229A>C (p.Thr77Pro) n.461A>C | dbSNP |
| 16 | g.177307A>G | CA393995823 | HBA1 | c.325A>G (p.Thr109Ala) c.229A>G (p.Thr77Ala) n.461A>G | dbSNP |
| 16 | g.177307A>T | CA393995824 | HBA1 | c.325A>T (p.Thr109Ser) c.229A>T (p.Thr77Ser) n.461A>T | |
| 16 | g.177307_177308delinsAC | CA2200883247 | HBA1 | c.325_326delinsAC (p.Thr109=) c.229_230delinsAC (p.Thr77=) n.461_462delinsAC | |
| 16 | g.177308C>A | CA7770277 | HBA1 | c.326C>A (p.Thr109Asn) c.230C>A (p.Thr77Asn) n.462C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.177308C= | CA2200883248 | HBA1 | c.326C= (p.Thr109=) c.230C= (p.Thr77=) n.462C= | |
| 16 | g.177308C>G | CA393995826 | HBA1 | c.326C>G (p.Thr109Ser) c.230C>G (p.Thr77Ser) n.462C>G | |
| 16 | g.177308C>T | CA393995828 | HBA1 | c.326C>T (p.Thr109Ile) c.230C>T (p.Thr77Ile) n.462C>T | dbSNP gnomAD v4 |
| 16 | g.177310del | CA7770276 | HBA1 | c.328del (p.Leu110TrpfsTer24) c.232del (p.Leu78TrpfsTer24) n.464del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.177309C>A | CA492994389 | HBA1 | c.327C>A (p.Thr109=) c.231C>A (p.Thr77=) n.463C>A |