| 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.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 | ClinVar 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 | |
| 16 | g.177309C>G | CA492994390 | HBA1 | c.327C>G (p.Thr109=) c.231C>G (p.Thr77=) n.463C>G | |
| 16 | g.177309C>T | CA492994391 | HBA1 | c.327C>T (p.Thr109=) c.231C>T (p.Thr77=) n.463C>T | gnomAD v4 |
| 16 | g.177310C>A | CA393995831 | HBA1 | c.328C>A (p.Leu110Met) c.232C>A (p.Leu78Met) n.464C>A | COSMIC |
| 16 | g.177310C= | CA2200883249 | HBA1 | c.328C= (p.Leu110=) c.232C= (p.Leu78=) n.464C= | |
| 16 | g.177310C>G | CA393995833 | HBA1 | c.328C>G (p.Leu110Val) c.232C>G (p.Leu78Val) n.464C>G | |
| 16 | g.177310C>T | CA492994392 | HBA1 | c.328C>T (p.Leu110=) c.232C>T (p.Leu78=) n.464C>T | dbSNP |
| 16 | g.177311T>A | CA393995838 | HBA1 | c.329T>A (p.Leu110Gln) c.233T>A (p.Leu78Gln) n.465T>A | |
| 16 | g.177311T>C | CA393995836 | HBA1 | c.329T>C (p.Leu110Pro) c.233T>C (p.Leu78Pro) n.465T>C | gnomAD v4 |
| 16 | g.177311T>G | CA393995835 | HBA1 | c.329T>G (p.Leu110Arg) c.233T>G (p.Leu78Arg) n.465T>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.177311T= | CA2200883250 | HBA1 | c.329T= (p.Leu110=) c.233T= (p.Leu78=) n.465T= | |
| 16 | g.177312G>A | CA492994393 | HBA1 | c.330G>A (p.Leu110=) c.234G>A (p.Leu78=) n.466G>A | gnomAD v4 |
| 16 | g.177312G>C | CA492994394 | HBA1 | c.330G>C (p.Leu110=) c.234G>C (p.Leu78=) n.466G>C | |
| 16 | g.177312G>T | CA492994395 | HBA1 | c.330G>T (p.Leu110=) c.234G>T (p.Leu78=) n.466G>T | |
| 16 | g.177313G>A | CA125931 | HBA1 | c.331G>A (p.Ala111Thr) c.235G>A (p.Ala79Thr) n.467G>A | ClinVar dbSNP gnomAD v2 |
| 16 | g.177313G>C | CA393995840 | HBA1 | c.331G>C (p.Ala111Pro) c.235G>C (p.Ala79Pro) n.467G>C | |
| 16 | g.177313G= | CA2200883251 | HBA1 | c.331G= (p.Ala111=) c.235G= (p.Ala79=) n.467G= | |
| 16 | g.177313G>T | CA393995841 | HBA1 | c.331G>T (p.Ala111Ser) c.235G>T (p.Ala79Ser) n.467G>T | |
| 16 | g.177313_177326delinsGCCGCCCACCTCCC | CA2200883252 | HBA1 | c.331_344delinsGCCGCCCACCTCCC (p.Ala111=) c.235_248delinsGCCGCCCACCTCCC (p.Ala79=) n.467_480delinsGCCGCCCACCTCCC | |
| 16 | g.177314C>A | CA125861 | HBA1 | c.332C>A (p.Ala111Asp) c.236C>A (p.Ala79Asp) n.468C>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.177314C= | CA2200883253 | HBA1 | c.332C= (p.Ala111=) c.236C= (p.Ala79=) n.468C= | |
| 16 | g.177314C>G | CA393995844 | HBA1 | c.332C>G (p.Ala111Gly) c.236C>G (p.Ala79Gly) n.468C>G | |
| 16 | g.177314C>T | CA7770278 | HBA1 | c.332C>T (p.Ala111Val) c.236C>T (p.Ala79Val) n.468C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |