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.177283C>A | CA393995744 | HBA1 | c.301C>A (p.Leu101Ile) c.205C>A (p.Leu69Ile) n.437C>A | |
16 | g.177283C= | CA2200883232 | HBA1 | c.301C= (p.Leu101=) c.205C= (p.Leu69=) n.437C= | |
16 | g.177283C>G | CA393995740 | HBA1 | c.301C>G (p.Leu101Val) c.205C>G (p.Leu69Val) n.437C>G | |
16 | g.177283C>T | CA393995742 | HBA1 | c.301C>T (p.Leu101Phe) c.205C>T (p.Leu69Phe) n.437C>T | dbSNP gnomAD v4 |
16 | g.177284T>A | CA393995745 | HBA1 | c.302T>A (p.Leu101His) c.206T>A (p.Leu69His) n.438T>A | |
16 | g.177284T>C | CA393995747 | HBA1 | c.302T>C (p.Leu101Pro) c.206T>C (p.Leu69Pro) n.438T>C | |
16 | g.177284T>G | CA393995748 | HBA1 | c.302T>G (p.Leu101Arg) c.206T>G (p.Leu69Arg) n.438T>G | |
16 | g.177285C>A | CA492994371 | HBA1 | c.303C>A (p.Leu101=) c.207C>A (p.Leu69=) n.439C>A | |
16 | g.177285C= | CA2200883233 | HBA1 | c.303C= (p.Leu101=) c.207C= (p.Leu69=) n.439C= | |
16 | g.177285C>G | CA492994369 | HBA1 | c.303C>G (p.Leu101=) c.207C>G (p.Leu69=) n.439C>G | |
16 | g.177285C>T | CA492994370 | HBA1 | c.303C>T (p.Leu101=) c.207C>T (p.Leu69=) n.439C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.177285_177286insTGCA | CA2630740067 | HBA1 | c.303_304insTGCA (p.Leu102CysfsTer?) c.207_208insTGCA (p.Leu70CysfsTer?) n.439_440insTGCA | gnomAD v4 |
16 | g.177286C>A | CA393995750 | HBA1 | c.304C>A (p.Leu102Ile) c.208C>A (p.Leu70Ile) n.440C>A | |
16 | g.177286C>G | CA393995751 | HBA1 | c.304C>G (p.Leu102Val) c.208C>G (p.Leu70Val) n.440C>G | gnomAD v4 |
16 | g.177286C>T | CA492994372 | HBA1 | c.304C>T (p.Leu102=) c.208C>T (p.Leu70=) n.440C>T | gnomAD v4 |
16 | g.177287T>A | CA393995754 | HBA1 | c.305T>A (p.Leu102Gln) c.209T>A (p.Leu70Gln) n.441T>A | |
16 | g.177287T>C | CA393995755 | HBA1 | c.305T>C (p.Leu102Pro) c.209T>C (p.Leu70Pro) n.441T>C | |
16 | g.177287T>G | CA393995756 | HBA1 | c.305T>G (p.Leu102Arg) c.209T>G (p.Leu70Arg) n.441T>G | |
16 | g.177287_177288del | CA2630740071 | HBA1 | c.305_306del (p.Leu102GlnfsTer?) c.209_210del (p.Leu70GlnfsTer?) n.441_442del | gnomAD v4 |
16 | g.177288A>C | CA492994373 | HBA1 | c.306A>C (p.Leu102=) c.210A>C (p.Leu70=) n.442A>C | |
16 | g.177288A>G | CA492994374 | HBA1 | c.306A>G (p.Leu102=) c.210A>G (p.Leu70=) n.442A>G | |
16 | g.177288A>T | CA492994375 | HBA1 | c.306A>T (p.Leu102=) c.210A>T (p.Leu70=) n.442A>T | |
16 | g.177289A>C | CA393995758 | HBA1 | c.307A>C (p.Ser103Arg) c.211A>C (p.Ser71Arg) n.443A>C | |
16 | g.177289A>G | CA393995760 | HBA1 | c.307A>G (p.Ser103Gly) c.211A>G (p.Ser71Gly) n.443A>G | |
16 | g.177289A>T | CA393995762 | HBA1 | c.307A>T (p.Ser103Cys) c.211A>T (p.Ser71Cys) n.443A>T | |
16 | g.177290G>A | CA393995765 | HBA1 | c.308G>A (p.Ser103Asn) c.212G>A (p.Ser71Asn) n.444G>A | |
16 | g.177290G>C | CA393995767 | HBA1 | c.308G>C (p.Ser103Thr) c.212G>C (p.Ser71Thr) n.444G>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.177290G= | CA2200883234 | HBA1 | c.308G= (p.Ser103=) c.212G= (p.Ser71=) n.444G= | |
16 | g.177290G>T | CA393995764 | HBA1 | c.308G>T (p.Ser103Ile) c.212G>T (p.Ser71Ile) n.444G>T | |
16 | g.177291C>A | CA276417106 | HBA1 | c.309C>A (p.Ser103Arg) c.213C>A (p.Ser71Arg) n.445C>A | ClinVar dbSNP |
16 | g.177291C= | CA2200883235 | HBA1 | c.309C= (p.Ser103=) c.213C= (p.Ser71=) n.445C= | |
16 | g.177291C>G | CA393995769 | HBA1 | c.309C>G (p.Ser103Arg) c.213C>G (p.Ser71Arg) n.445C>G | |
16 | g.177291C>T | CA492994376 | HBA1 | c.309C>T (p.Ser103=) c.213C>T (p.Ser71=) n.445C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.177291_177292insTCCTT | CA2630740077 | HBA1 | c.309_310insTCCTT (p.His104SerfsTer7) c.213_214insTCCTT (p.His72SerfsTer7) n.445_446insTCCTT | gnomAD v4 |
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 | |
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 |
16 | g.177315_177327del | CA276417128 | HBA1 | c.333_345del (p.Ala112ProfsTer18) c.237_249del (p.Ala80ProfsTer18) n.469_481del | dbSNP |
16 | g.177315C>A | CA492994396 | HBA1 | c.333C>A (p.Ala111=) c.237C>A (p.Ala79=) n.469C>A | |
16 | g.177315C>G | CA492994397 | HBA1 | c.333C>G (p.Ala111=) c.237C>G (p.Ala79=) n.469C>G | |
16 | g.177315C>T | CA492994398 | HBA1 | c.333C>T (p.Ala111=) c.237C>T (p.Ala79=) n.469C>T | |
16 | g.177316G>A | CA125985 | HBA1 | c.334G>A (p.Ala112Thr) c.238G>A (p.Ala80Thr) n.470G>A | ClinVar dbSNP gnomAD v4 |
16 | g.177316G>C | CA393995847 | HBA1 | c.334G>C (p.Ala112Pro) c.238G>C (p.Ala80Pro) n.470G>C | |
16 | g.177316G= | CA2200883254 | HBA1 | c.334G= (p.Ala112=) c.238G= (p.Ala80=) n.470G= | |
16 | g.177316G>T | CA393995849 | HBA1 | c.334G>T (p.Ala112Ser) c.238G>T (p.Ala80Ser) n.470G>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.177317C>A | CA393995851 | HBA1 | c.335C>A (p.Ala112Asp) c.239C>A (p.Ala80Asp) n.471C>A | |
16 | g.177317C= | CA2200883255 | HBA1 | c.335C= (p.Ala112=) c.239C= (p.Ala80=) n.471C= | |
16 | g.177317C>G | CA393995853 | HBA1 | c.335C>G (p.Ala112Gly) c.239C>G (p.Ala80Gly) n.471C>G | |
16 | g.177317C>T | CA393995855 | HBA1 | c.335C>T (p.Ala112Val) c.239C>T (p.Ala80Val) n.471C>T | ClinVar dbSNP |
16 | g.177318C>A | CA492994399 | HBA1 | c.336C>A (p.Ala112=) c.240C>A (p.Ala80=) n.472C>A | |
16 | g.177318C= | CA2200883256 | HBA1 | c.336C= (p.Ala112=) c.240C= (p.Ala80=) n.472C= | |
16 | g.177318C>G | CA7770279 | HBA1 | c.336C>G (p.Ala112=) c.240C>G (p.Ala80=) n.472C>G | dbSNP ExAC |
16 | g.177318C>T | CA492994400 | HBA1 | c.336C>T (p.Ala112=) c.240C>T (p.Ala80=) n.472C>T | |
16 | g.177319C>A | CA393995859 | HBA1 | c.337C>A (p.His113Asn) c.241C>A (p.His81Asn) n.473C>A | |
16 | g.177319C= | CA2200883257 | HBA1 | c.337C= (p.His113=) c.241C= (p.His81=) n.473C= | |
16 | g.177319C>G | CA125757 | HBA1 | c.337C>G (p.His113Asp) c.241C>G (p.His81Asp) n.473C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.177319C>T | CA393995857 | HBA1 | c.337C>T (p.His113Tyr) c.241C>T (p.His81Tyr) n.473C>T | |
16 | g.177319_177333dup | CA1139664216 | HBA1 | c.337_351dup (p.Glu117_Phe118insHisLeuProAlaGlu) c.241_255dup (p.Glu85_Phe86insHisLeuProAlaGlu) n.473_487dup | ClinVar dbSNP |
16 | g.177320A= | CA2200883258 | HBA1 | c.338A= (p.His113=) c.242A= (p.His81=) n.474A= | |
16 | g.177320A>C | CA393995861 | HBA1 | c.338A>C (p.His113Pro) c.242A>C (p.His81Pro) n.474A>C | dbSNP COSMIC |
16 | g.177320A>G | CA125897 | HBA1 | c.338A>G (p.His113Arg) c.242A>G (p.His81Arg) n.474A>G | ClinVar dbSNP gnomAD v4 |
16 | g.177320A>T | CA393995863 | HBA1 | c.338A>T (p.His113Leu) c.242A>T (p.His81Leu) n.474A>T | |
16 | g.177321C>A | CA276417141 | HBA1 | c.339C>A (p.His113Gln) c.243C>A (p.His81Gln) n.475C>A | dbSNP |
16 | g.177321C= | CA2200883259 | HBA1 | c.339C= (p.His113=) c.243C= (p.His81=) n.475C= | |
16 | g.177321C>G | CA393995868 | HBA1 | c.339C>G (p.His113Gln) c.243C>G (p.His81Gln) n.475C>G | |
16 | g.177321C>T | CA492994402 | HBA1 | c.339C>T (p.His113=) c.243C>T (p.His81=) n.475C>T | gnomAD v4 |
16 | g.177323_177326dup | CA2200883260 | HBA1 | c.341_344dup (p.Ala116ProfsTer?) c.245_248dup (p.Ala84ProfsTer?) n.477_480dup | dbSNP |
16 | g.177322C>A | CA393995869 | HBA1 | c.340C>A (p.Leu114Ile) c.244C>A (p.Leu82Ile) n.476C>A | |
16 | g.177322C>G | CA393995870 | HBA1 | c.340C>G (p.Leu114Val) c.244C>G (p.Leu82Val) n.476C>G | |
16 | g.177322C>T | CA393995871 | HBA1 | c.340C>T (p.Leu114Phe) c.244C>T (p.Leu82Phe) n.476C>T | |
16 | g.177323T>A | CA125915 | HBA1 | c.341T>A (p.Leu114His) c.245T>A (p.Leu82His) n.477T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.177323T>C | CA393995872 | HBA1 | c.341T>C (p.Leu114Pro) c.245T>C (p.Leu82Pro) n.477T>C | |
16 | g.177323T>G | CA393995873 | HBA1 | c.341T>G (p.Leu114Arg) c.245T>G (p.Leu82Arg) n.477T>G | |
16 | g.177323T= | CA2200883261 | HBA1 | c.341T= (p.Leu114=) c.245T= (p.Leu82=) n.477T= | |
16 | g.177323_177324delinsTC | CA2200883262 | HBA1 | c.341_342delinsTC (p.Leu114=) c.245_246delinsTC (p.Leu82=) n.477_478delinsTC | |
16 | g.177324C>A | CA492994403 | HBA1 | c.342C>A (p.Leu114=) c.246C>A (p.Leu82=) n.478C>A | |
16 | g.177324C>G | CA492994404 | HBA1 | c.342C>G (p.Leu114=) c.246C>G (p.Leu82=) n.478C>G | gnomAD v4 |
16 | g.177324C>T | CA492994405 | HBA1 | c.342C>T (p.Leu114=) c.246C>T (p.Leu82=) n.478C>T | |
16 | g.177327del | CA620304283 | HBA1 | c.345del (p.Ala116ProfsTer18) c.249del (p.Ala84ProfsTer18) n.481del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.177325C>A | CA393995875 | HBA1 | c.343C>A (p.Pro115Thr) c.247C>A (p.Pro83Thr) n.479C>A | dbSNP gnomAD v4 |
16 | g.177325C= | CA2200883264 | HBA1 | c.343C= (p.Pro115=) c.247C= (p.Pro83=) n.479C= | |
16 | g.177325C>G | CA276417150 | HBA1 | c.343C>G (p.Pro115Ala) c.247C>G (p.Pro83Ala) n.479C>G | dbSNP gnomAD v4 |
16 | g.177325C>T | CA125963 | HBA1 | c.343C>T (p.Pro115Ser) c.247C>T (p.Pro83Ser) n.479C>T | ClinVar dbSNP gnomAD v4 COSMIC |
16 | g.177325_177326delinsCC | CA2200883263 | HBA1 | c.343_344delinsCC (p.Pro115=) c.247_248delinsCC (p.Pro83=) n.479_480delinsCC | |
16 | g.177325_177326delinsTT | CA276417146 | HBA1 | c.343_344delinsTT (p.Pro115Phe) c.247_248delinsTT (p.Pro83Phe) n.479_480delinsTT | dbSNP |
16 | g.177326C>A | CA393995879 | HBA1 | c.344C>A (p.Pro115His) c.248C>A (p.Pro83His) n.480C>A | gnomAD v4 |
16 | g.177326C= | CA2200883265 | HBA1 | c.344C= (p.Pro115=) c.248C= (p.Pro83=) n.480C= | |
16 | g.177326C>G | CA125699 | HBA1 | c.344C>G (p.Pro115Arg) c.248C>G (p.Pro83Arg) n.480C>G | ClinVar dbSNP |
16 | g.177326C>T | CA125843 | HBA1 | c.344C>T (p.Pro115Leu) c.248C>T (p.Pro83Leu) n.480C>T | ClinVar dbSNP gnomAD v4 |
16 | g.177327C>A | CA492994406 | HBA1 | c.345C>A (p.Pro115=) c.249C>A (p.Pro83=) n.481C>A | gnomAD v4 |
16 | g.177327C= | CA2200883266 | HBA1 | c.345C= (p.Pro115=) c.249C= (p.Pro83=) n.481C= | |
16 | g.177327C>G | CA492994407 | HBA1 | c.345C>G (p.Pro115=) c.249C>G (p.Pro83=) n.481C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.177327C>T | CA7770280 | HBA1 | c.345C>T (p.Pro115=) c.249C>T (p.Pro83=) n.481C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.177328G>A | CA393995882 | HBA1 | c.346G>A (p.Ala116Thr) c.250G>A (p.Ala84Thr) n.482G>A | |
16 | g.177328G>C | CA393995883 | HBA1 | c.346G>C (p.Ala116Pro) c.250G>C (p.Ala84Pro) n.482G>C | |
16 | g.177328G= | CA2200883267 | HBA1 | c.346G= (p.Ala116=) c.250G= (p.Ala84=) n.482G= | |
16 | g.177328G>T | CA393995884 | HBA1 | c.346G>T (p.Ala116Ser) c.250G>T (p.Ala84Ser) n.482G>T | |
16 | g.177329C>A | CA125791 | HBA1 | c.347C>A (p.Ala116Asp) c.251C>A (p.Ala84Asp) n.483C>A | ClinVar dbSNP |
16 | g.177329C= | CA2200883268 | HBA1 | c.347C= (p.Ala116=) c.251C= (p.Ala84=) n.483C= | |
16 | g.177329C>G | CA393995886 | HBA1 | c.347C>G (p.Ala116Gly) c.251C>G (p.Ala84Gly) n.483C>G | |
16 | g.177329C>T | CA276417160 | HBA1 | c.347C>T (p.Ala116Val) c.251C>T (p.Ala84Val) n.483C>T | dbSNP |
16 | g.177331_177339dup | CA973584886 | HBA1 | c.349_357dup (p.Thr119_Pro120insGluPheThr) c.253_261dup (p.Thr87_Pro88insGluPheThr) n.485_493dup | dbSNP gnomAD v3 gnomAD v4 |
16 | g.177330C>A | CA492994408 | HBA1 | c.348C>A (p.Ala116=) c.252C>A (p.Ala84=) n.484C>A | gnomAD v4 |
16 | g.177330C>G | CA492994409 | HBA1 | c.348C>G (p.Ala116=) c.252C>G (p.Ala84=) n.484C>G | gnomAD v4 |
16 | g.177330C>T | CA492994410 | HBA1 | c.348C>T (p.Ala116=) c.252C>T (p.Ala84=) n.484C>T | gnomAD v4 |
16 | g.177331G>A | CA125847 | HBA1 | c.349G>A (p.Glu117Lys) c.253G>A (p.Glu85Lys) n.485G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.177331G>C | CA125853 | HBA1 | c.349G>C (p.Glu117Gln) c.253G>C (p.Glu85Gln) n.485G>C | ClinVar dbSNP |
16 | g.177331G= | CA2200883269 | HBA1 | c.349G= (p.Glu117=) c.253G= (p.Glu85=) n.485G= | |
16 | g.177331G>T | CA393995889 | HBA1 | c.349G>T (p.Glu117Ter) c.253G>T (p.Glu85Ter) n.485G>T | |
16 | g.177332A= | CA2200883270 | HBA1 | c.350A= (p.Glu117=) c.254A= (p.Glu85=) n.486A= | |
16 | g.177332A>C | CA125921 | HBA1 | c.350A>C (p.Glu117Ala) c.254A>C (p.Glu85Ala) n.486A>C | ClinVar dbSNP ExAC gnomAD v2 |
16 | g.177332A>G | CA393995892 | HBA1 | c.350A>G (p.Glu117Gly) c.254A>G (p.Glu85Gly) n.486A>G | |
16 | g.177332A>T | CA393995893 | HBA1 | c.350A>T (p.Glu117Val) c.254A>T (p.Glu85Val) n.486A>T | |
16 | g.177333G>A | CA492994413 | HBA1 | c.351G>A (p.Glu117=) c.255G>A (p.Glu85=) n.487G>A | |
16 | g.177333G>C | CA393995897 | HBA1 | c.351G>C (p.Glu117Asp) c.255G>C (p.Glu85Asp) n.487G>C | gnomAD v4 |
16 | g.177333G>T | CA393995895 | HBA1 | c.351G>T (p.Glu117Asp) c.255G>T (p.Glu85Asp) n.487G>T | |
16 | g.177334T>A | CA393995899 | HBA1 | c.352T>A (p.Phe118Ile) c.256T>A (p.Phe86Ile) n.488T>A | |
16 | g.177334T>C | CA393995900 | HBA1 | c.352T>C (p.Phe118Leu) c.256T>C (p.Phe86Leu) n.488T>C | dbSNP gnomAD v4 |
16 | g.177334T>G | CA393995902 | HBA1 | c.352T>G (p.Phe118Val) c.256T>G (p.Phe86Val) n.488T>G | |
16 | g.177334T= | CA2200883271 | HBA1 | c.352T= (p.Phe118=) c.256T= (p.Phe86=) n.488T= | |
16 | g.177335T>A | CA393995904 | HBA1 | c.353T>A (p.Phe118Tyr) c.257T>A (p.Phe86Tyr) n.489T>A | gnomAD v4 |
16 | g.177335T>C | CA393995905 | HBA1 | c.353T>C (p.Phe118Ser) c.257T>C (p.Phe86Ser) n.489T>C | |
16 | g.177335T>G | CA393995907 | HBA1 | c.353T>G (p.Phe118Cys) c.257T>G (p.Phe86Cys) n.489T>G | |
16 | g.177335_177337dup | CA7770281 | HBA1 | c.353_355dup (p.Phe118_Thr119insIle) c.257_259dup (p.Phe86_Thr87insIle) n.489_491dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.177336C>A | CA393995911 | HBA1 | c.354C>A (p.Phe118Leu) c.258C>A (p.Phe86Leu) n.490C>A | |
16 | g.177336C>G | CA393995909 | HBA1 | c.354C>G (p.Phe118Leu) c.258C>G (p.Phe86Leu) n.490C>G | |
16 | g.177336C>T | CA492994417 | HBA1 | c.354C>T (p.Phe118=) c.258C>T (p.Phe86=) n.490C>T | |
16 | g.177337A= | CA2200883272 | HBA1 | c.355A= (p.Thr119=) c.259A= (p.Thr87=) n.491A= | |
16 | g.177337A>C | CA393995912 | HBA1 | c.355A>C (p.Thr119Pro) c.259A>C (p.Thr87Pro) n.491A>C | |
16 | g.177337A>G | CA393995913 | HBA1 | c.355A>G (p.Thr119Ala) c.259A>G (p.Thr87Ala) n.491A>G | |
16 | g.177337A>T | CA276417174 | HBA1 | c.355A>T (p.Thr119Ser) c.259A>T (p.Thr87Ser) n.491A>T | dbSNP |
16 | g.177338C>A | CA7770282 | HBA1 | c.356C>A (p.Thr119Asn) c.260C>A (p.Thr87Asn) n.492C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.177338C= | CA2200883273 | HBA1 | c.356C= (p.Thr119=) c.260C= (p.Thr87=) n.492C= | |
16 | g.177338C>G | CA393995914 | HBA1 | c.356C>G (p.Thr119Ser) c.260C>G (p.Thr87Ser) n.492C>G | |
16 | g.177338C>T | CA393995916 | HBA1 | c.356C>T (p.Thr119Ile) c.260C>T (p.Thr87Ile) n.492C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.177341del | CA2630735991 | HBA1 | c.359del (p.Pro120LeufsTer14) c.263del (p.Pro88LeufsTer14) n.495del | gnomAD v4 |
16 | g.177339C>A | CA492994420 | HBA1 | c.357C>A (p.Thr119=) c.261C>A (p.Thr87=) n.493C>A | |
16 | g.177339C>G | CA492994421 | HBA1 | c.357C>G (p.Thr119=) c.261C>G (p.Thr87=) n.493C>G | |
16 | g.177339C>T | CA492994423 | HBA1 | c.357C>T (p.Thr119=) c.261C>T (p.Thr87=) n.493C>T | gnomAD v4 |
16 | g.177340_177344del | CA2573054151 | HBA1 | c.358_362del (p.Pro120GlyfsTer?) c.262_266del (p.Pro88GlyfsTer?) n.494_498del | ClinVar dbSNP |
16 | g.177339_177340insTCA | CA2695221236 | HBA1 | c.357_358insTCA (p.Thr119_Pro120insSer) c.261_262insTCA (p.Thr87_Pro88insSer) n.493_494insTCA | |
16 | g.177340C>A | CA393995918 | HBA1 | c.358C>A (p.Pro120Thr) c.262C>A (p.Pro88Thr) n.494C>A | |
16 | g.177340C= | CA2200883274 | HBA1 | c.358C= (p.Pro120=) c.262C= (p.Pro88=) n.494C= | |
16 | g.177340C>G | CA393995920 | HBA1 | c.358C>G (p.Pro120Ala) c.262C>G (p.Pro88Ala) n.494C>G | |
16 | g.177340C>T | CA7770283 | HBA1 | c.358C>T (p.Pro120Ser) c.262C>T (p.Pro88Ser) n.494C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.177341C>A | CA393995922 | HBA1 | c.359C>A (p.Pro120His) c.263C>A (p.Pro88His) n.495C>A | |
16 | g.177341C= | CA2200883275 | HBA1 | c.359C= (p.Pro120=) c.263C= (p.Pro88=) n.495C= | |
16 | g.177341C>G | CA393995923 | HBA1 | c.359C>G (p.Pro120Arg) c.263C>G (p.Pro88Arg) n.495C>G | gnomAD v4 |
16 | g.177341C>T | CA7770284 | HBA1 | c.359C>T (p.Pro120Leu) c.263C>T (p.Pro88Leu) n.495C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.177342T>A | CA492994424 | HBA1 | c.360T>A (p.Pro120=) c.264T>A (p.Pro88=) n.496T>A | |
16 | g.177342T>C | CA492994425 | HBA1 | c.360T>C (p.Pro120=) c.264T>C (p.Pro88=) n.496T>C | COSMIC |
16 | g.177342T>G | CA492994426 | HBA1 | c.360T>G (p.Pro120=) c.264T>G (p.Pro88=) n.496T>G | |
16 | g.177343G>A | CA393995926 | HBA1 | c.361G>A (p.Ala121Thr) c.265G>A (p.Ala89Thr) n.497G>A | |
16 | g.177343G>C | CA393995927 | HBA1 | c.361G>C (p.Ala121Pro) c.265G>C (p.Ala89Pro) n.497G>C | |
16 | g.177343G>T | CA393995929 | HBA1 | c.361G>T (p.Ala121Ser) c.265G>T (p.Ala89Ser) n.497G>T | |
16 | g.177344C>A | CA125767 | HBA1 | c.362C>A (p.Ala121Glu) c.266C>A (p.Ala89Glu) n.498C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.177344C= | CA2200883276 | HBA1 | c.362C= (p.Ala121=) c.266C= (p.Ala89=) n.498C= | |
16 | g.177344C>G | CA393995932 | HBA1 | c.362C>G (p.Ala121Gly) c.266C>G (p.Ala89Gly) n.498C>G | |
16 | g.177344C>T | CA393995933 | HBA1 | c.362C>T (p.Ala121Val) c.266C>T (p.Ala89Val) n.498C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.177345G>A | CA492994428 | HBA1 | c.363G>A (p.Ala121=) c.267G>A (p.Ala89=) n.499G>A | gnomAD v4 |
16 | g.177345G>C | CA492994429 | HBA1 | c.363G>C (p.Ala121=) c.267G>C (p.Ala89=) n.499G>C | |
16 | g.177345G= | CA2200883277 | HBA1 | c.363G= (p.Ala121=) c.267G= (p.Ala89=) n.499G= | |
16 | g.177345G>T | CA492994430 | HBA1 | c.363G>T (p.Ala121=) c.267G>T (p.Ala89=) n.499G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.177346G>A | CA125857 | HBA1 | c.364G>A (p.Val122Met) c.268G>A (p.Val90Met) n.500G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.177346G>C | CA393995936 | HBA1 | c.364G>C (p.Val122Leu) c.268G>C (p.Val90Leu) n.500G>C | |
16 | g.177346G= | CA2200883278 | HBA1 | c.364G= (p.Val122=) c.268G= (p.Val90=) n.500G= | |
16 | g.177346G>T | CA393995938 | HBA1 | c.364G>T (p.Val122Leu) c.268G>T (p.Val90Leu) n.500G>T | |
16 | g.177347T>A | CA393995939 | HBA1 | c.365T>A (p.Val122Glu) c.269T>A (p.Val90Glu) n.501T>A | ClinVar dbSNP |
16 | g.177347T>C | CA7770285 | HBA1 | c.365T>C (p.Val122Ala) c.269T>C (p.Val90Ala) n.501T>C | dbSNP ExAC gnomAD v4 |
16 | g.177347T>G | CA393995941 | HBA1 | c.365T>G (p.Val122Gly) c.269T>G (p.Val90Gly) n.501T>G | |
16 | g.177347T= | CA2200883279 | HBA1 | c.365T= (p.Val122=) c.269T= (p.Val90=) n.501T= | |
16 | g.177348G>A | CA492994432 | HBA1 | c.366G>A (p.Val122=) c.270G>A (p.Val90=) n.502G>A | |
16 | g.177348G>C | CA492994435 | HBA1 | c.366G>C (p.Val122=) c.270G>C (p.Val90=) n.502G>C | |
16 | g.177348G>T | CA492994434 | HBA1 | c.366G>T (p.Val122=) c.270G>T (p.Val90=) n.502G>T | |
16 | g.177349C>A | CA393995943 | HBA1 | c.367C>A (p.His123Asn) c.271C>A (p.His91Asn) n.503C>A | |
16 | g.177349C= | CA2200883280 | HBA1 | c.367C= (p.His123=) c.271C= (p.His91=) n.503C= | |
16 | g.177349C>G | CA393995944 | HBA1 | c.367C>G (p.His123Asp) c.271C>G (p.His91Asp) n.503C>G | |
16 | g.177349C>T | CA276417189 | HBA1 | c.367C>T (p.His123Tyr) c.271C>T (p.His91Tyr) n.503C>T | dbSNP |
16 | g.177350A>C | CA393995946 | HBA1 | c.368A>C (p.His123Pro) c.272A>C (p.His91Pro) n.504A>C | |
16 | g.177350A>G | CA393995948 | HBA1 | c.368A>G (p.His123Arg) c.272A>G (p.His91Arg) n.504A>G | |
16 | g.177350A>T | CA393995950 | HBA1 | c.368A>T (p.His123Leu) c.272A>T (p.His91Leu) n.504A>T | |
16 | g.177351C>A | CA393995951 | HBA1 | c.369C>A (p.His123Gln) c.273C>A (p.His91Gln) n.505C>A | |
16 | g.177351C>G | CA393995952 | HBA1 | c.369C>G (p.His123Gln) c.273C>G (p.His91Gln) n.505C>G | |
16 | g.177351C>T | CA492994437 | HBA1 | c.369C>T (p.His123=) c.273C>T (p.His91=) n.505C>T | |
16 | g.177352G>A | CA7770286 | HBA1 | c.370G>A (p.Ala124Thr) c.274G>A (p.Ala92Thr) n.506G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.177352G>C | CA276417193 | HBA1 | c.370G>C (p.Ala124Pro) c.274G>C (p.Ala92Pro) n.506G>C | dbSNP |
16 | g.177352G= | CA2200883281 | HBA1 | c.370G= (p.Ala124=) c.274G= (p.Ala92=) n.506G= | |
16 | g.177352G>T | CA125977 | HBA1 | c.370G>T (p.Ala124Ser) c.274G>T (p.Ala92Ser) n.506G>T | ClinVar dbSNP |
16 | g.177353C>A | CA393995956 | HBA1 | c.371C>A (p.Ala124Asp) c.275C>A (p.Ala92Asp) n.507C>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.177353C= | CA2200883282 | HBA1 | c.371C= (p.Ala124=) c.275C= (p.Ala92=) n.507C= | |
16 | g.177353C>G | CA393995957 | HBA1 | c.371C>G (p.Ala124Gly) c.275C>G (p.Ala92Gly) n.507C>G | |
16 | g.177353C>T | CA393995959 | HBA1 | c.371C>T (p.Ala124Val) c.275C>T (p.Ala92Val) n.507C>T | |
16 | g.177354C>A | CA492994441 | HBA1 | c.372C>A (p.Ala124=) c.276C>A (p.Ala92=) n.508C>A | |
16 | g.177354C>G | CA492994442 | HBA1 | c.372C>G (p.Ala124=) c.276C>G (p.Ala92=) n.508C>G | gnomAD v4 |
16 | g.177354C>T | CA492994443 | HBA1 | c.372C>T (p.Ala124=) c.276C>T (p.Ala92=) n.508C>T | |
16 | g.177354_177367delinsCTCCCTGGACAAGT | CA2200883283 | HBA1 | c.372_385delinsCTCCCTGGACAAGT (p.Ala124=) c.276_289delinsCTCCCTGGACAAGT (p.Ala92=) n.508_521delinsCTCCCTGGACAAGT | |
16 | g.177355T>A | CA393995963 | HBA1 | c.373T>A (p.Ser125Thr) c.277T>A (p.Ser93Thr) n.509T>A | |
16 | g.177355T>C | CA393995962 | HBA1 | c.373T>C (p.Ser125Pro) c.277T>C (p.Ser93Pro) n.509T>C | |
16 | g.177355T>G | CA393995960 | HBA1 | c.373T>G (p.Ser125Ala) c.277T>G (p.Ser93Ala) n.509T>G | |
16 | g.177358_177370del | CA2200883284 | HBA1 | c.376_388del (p.Leu126TrpfsTer4) c.280_292del (p.Leu94TrpfsTer4) n.512_524del | dbSNP gnomAD v3 gnomAD v4 |
16 | g.177356C>A | CA393995964 | HBA1 | c.374C>A (p.Ser125Tyr) c.278C>A (p.Ser93Tyr) n.510C>A | |
16 | g.177356C>G | CA393995966 | HBA1 | c.374C>G (p.Ser125Cys) c.278C>G (p.Ser93Cys) n.510C>G | |
16 | g.177356C>T | CA393995968 | HBA1 | c.374C>T (p.Ser125Phe) c.278C>T (p.Ser93Phe) n.510C>T | gnomAD v4 |
16 | g.177357C>A | CA492994444 | HBA1 | c.375C>A (p.Ser125=) c.279C>A (p.Ser93=) n.511C>A | |
16 | g.177357C>G | CA492994445 | HBA1 | c.375C>G (p.Ser125=) c.279C>G (p.Ser93=) n.511C>G | gnomAD v4 |
16 | g.177357C>T | CA492994446 | HBA1 | c.375C>T (p.Ser125=) c.279C>T (p.Ser93=) n.511C>T | gnomAD v4 |
16 | g.177358C>A | CA393995970 | HBA1 | c.376C>A (p.Leu126Met) c.280C>A (p.Leu94Met) n.512C>A | |
16 | g.177358C>G | CA393995971 | HBA1 | c.376C>G (p.Leu126Val) c.280C>G (p.Leu94Val) n.512C>G | |
16 | g.177358C>T | CA492994448 | HBA1 | c.376C>T (p.Leu126=) c.280C>T (p.Leu94=) n.512C>T | |
16 | g.177359T>A | CA393995973 | HBA1 | c.377T>A (p.Leu126Gln) c.281T>A (p.Leu94Gln) n.513T>A | |
16 | g.177359T>C | CA393995974 | HBA1 | c.377T>C (p.Leu126Pro) c.281T>C (p.Leu94Pro) n.513T>C | gnomAD v4 |
16 | g.177359T>G | CA393995976 | HBA1 | c.377T>G (p.Leu126Arg) c.281T>G (p.Leu94Arg) n.513T>G | |
16 | g.177360G>A | CA492994451 | HBA1 | c.378G>A (p.Leu126=) c.282G>A (p.Leu94=) n.514G>A | dbSNP gnomAD v4 |
16 | g.177360G>C | CA492994453 | HBA1 | c.378G>C (p.Leu126=) c.282G>C (p.Leu94=) n.514G>C | COSMIC |
16 | g.177360G= | CA2200883285 | HBA1 | c.378G= (p.Leu126=) c.282G= (p.Leu94=) n.514G= | |
16 | g.177360G>T | CA492994452 | HBA1 | c.378G>T (p.Leu126=) c.282G>T (p.Leu94=) n.514G>T | |
16 | g.177361G>A | CA276417196 | HBA1 | c.379G>A (p.Asp127Asn) c.283G>A (p.Asp95Asn) n.515G>A | dbSNP |
16 | g.177361G>C | CA125875 | HBA1 | c.379G>C (p.Asp127His) c.283G>C (p.Asp95His) n.515G>C | ClinVar dbSNP |
16 | g.177361G= | CA2200883286 | HBA1 | c.379G= (p.Asp127=) c.283G= (p.Asp95=) n.515G= | |
16 | g.177361G>T | CA276417201 | HBA1 | c.379G>T (p.Asp127Tyr) c.283G>T (p.Asp95Tyr) n.515G>T | ClinVar dbSNP |
16 | g.177362A= | CA2200883287 | HBA1 | c.380A= (p.Asp127=) c.284A= (p.Asp95=) n.516A= | |
16 | g.177362A>C | CA276417205 | HBA1 | c.380A>C (p.Asp127Ala) c.284A>C (p.Asp95Ala) n.516A>C | dbSNP |
16 | g.177362A>G | CA276417209 | HBA1 | c.380A>G (p.Asp127Gly) c.284A>G (p.Asp95Gly) n.516A>G | dbSNP |
16 | g.177362A>T | CA125933 | HBA1 | c.380A>T (p.Asp127Val) c.284A>T (p.Asp95Val) n.516A>T | ClinVar dbSNP |
16 | g.177363C>A | CA393995978 | HBA1 | c.381C>A (p.Asp127Glu) c.285C>A (p.Asp95Glu) n.517C>A | |
16 | g.177363C= | CA2200883288 | HBA1 | c.381C= (p.Asp127=) c.285C= (p.Asp95=) n.517C= | |
16 | g.177363C>G | CA276417212 | HBA1 | c.381C>G (p.Asp127Glu) c.285C>G (p.Asp95Glu) n.517C>G | dbSNP |
16 | g.177363C>T | CA492994455 | HBA1 | c.381C>T (p.Asp127=) c.285C>T (p.Asp95=) n.517C>T | |
16 | g.177364A= | CA2200883289 | HBA1 | c.382A= (p.Lys128=) c.286A= (p.Lys96=) n.518A= | |
16 | g.177364A>C | CA393995980 | HBA1 | c.382A>C (p.Lys128Gln) c.286A>C (p.Lys96Gln) n.518A>C | |
16 | g.177364A>G | CA393995981 | HBA1 | c.382A>G (p.Lys128Glu) c.286A>G (p.Lys96Glu) n.518A>G | |
16 | g.177364A>T | CA393995982 | HBA1 | c.382A>T (p.Lys128Ter) c.286A>T (p.Lys96Ter) n.518A>T | dbSNP |
16 | g.177365A= | CA2200883290 | HBA1 | c.383A= (p.Lys128=) c.287A= (p.Lys96=) n.519A= | |
16 | g.177365A>C | CA125891 | HBA1 | c.383A>C (p.Lys128Thr) c.287A>C (p.Lys96Thr) n.519A>C | ClinVar dbSNP |
16 | g.177365A>G | CA393995984 | HBA1 | c.383A>G (p.Lys128Arg) c.287A>G (p.Lys96Arg) n.519A>G | |
16 | g.177365A>T | CA393995983 | HBA1 | c.383A>T (p.Lys128Met) c.287A>T (p.Lys96Met) n.519A>T | |
16 | g.177366G>A | CA492994459 | HBA1 | c.384G>A (p.Lys128=) c.288G>A (p.Lys96=) n.520G>A | |
16 | g.177366G>C | CA125795 | HBA1 | c.384G>C (p.Lys128Asn) c.288G>C (p.Lys96Asn) n.520G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.177366G= | CA2200883292 | HBA1 | c.384G= (p.Lys128=) c.288G= (p.Lys96=) n.520G= | |
16 | g.177366G>T | CA276417219 | HBA1 | c.384G>T (p.Lys128Asn) c.288G>T (p.Lys96Asn) n.520G>T | dbSNP |
16 | g.177366_177367delinsGT | CA2200883291 | HBA1 | c.384_385delinsGT (p.Lys128=) c.288_289delinsGT (p.Lys96=) n.520_521delinsGT | |
16 | g.177367T>A | CA393995985 | HBA1 | c.385T>A (p.Phe129Ile) c.289T>A (p.Phe97Ile) n.521T>A | |
16 | g.177367T>C | CA393995986 | HBA1 | c.385T>C (p.Phe129Leu) c.289T>C (p.Phe97Leu) n.521T>C | |
16 | g.177367T>G | CA393995987 | HBA1 | c.385T>G (p.Phe129Val) c.289T>G (p.Phe97Val) n.521T>G | dbSNP gnomAD v4 |
16 | g.177367T= | CA2200883293 | HBA1 | c.385T= (p.Phe129=) c.289T= (p.Phe97=) n.521T= | |
16 | g.177368del | CA7770287 | HBA1 | c.386del (p.Phe129SerfsTer5) c.290del (p.Phe97SerfsTer5) n.522del | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.177368T>A | CA393995988 | HBA1 | c.386T>A (p.Phe129Tyr) c.290T>A (p.Phe97Tyr) n.522T>A | |
16 | g.177368T>C | CA393995990 | HBA1 | c.386T>C (p.Phe129Ser) c.290T>C (p.Phe97Ser) n.522T>C | |
16 | g.177368T>G | CA393995989 | HBA1 | c.386T>G (p.Phe129Cys) c.290T>G (p.Phe97Cys) n.522T>G | |
16 | g.177369C>A | CA393995991 | HBA1 | c.387C>A (p.Phe129Leu) c.291C>A (p.Phe97Leu) n.523C>A | gnomAD v4 |
16 | g.177369C>G | CA393995992 | HBA1 | c.387C>G (p.Phe129Leu) c.291C>G (p.Phe97Leu) n.523C>G | |
16 | g.177369C>T | CA492994461 | HBA1 | c.387C>T (p.Phe129=) c.291C>T (p.Phe97=) n.523C>T | dbSNP gnomAD v4 |
16 | g.177370C>A | CA393995993 | HBA1 | c.388C>A (p.Leu130Met) c.292C>A (p.Leu98Met) n.524C>A | |
16 | g.177370C>G | CA393995994 | HBA1 | c.388C>G (p.Leu130Val) c.292C>G (p.Leu98Val) n.524C>G | |
16 | g.177370C>T | CA492994462 | HBA1 | c.388C>T (p.Leu130=) c.292C>T (p.Leu98=) n.524C>T | gnomAD v4 |
16 | g.177371T>A | CA393995995 | HBA1 | c.389T>A (p.Leu130Gln) c.293T>A (p.Leu98Gln) n.525T>A | |
16 | g.177371T>C | CA125979 | HBA1 | c.389T>C (p.Leu130Pro) c.293T>C (p.Leu98Pro) n.525T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.177371T>G | CA393995996 | HBA1 | c.389T>G (p.Leu130Arg) c.293T>G (p.Leu98Arg) n.525T>G | |
16 | g.177371T= | CA2200883294 | HBA1 | c.389T= (p.Leu130=) c.293T= (p.Leu98=) n.525T= | |
16 | g.177372G>A | CA492994464 | HBA1 | c.390G>A (p.Leu130=) c.294G>A (p.Leu98=) n.526G>A | |
16 | g.177372G>C | CA492994465 | HBA1 | c.390G>C (p.Leu130=) c.294G>C (p.Leu98=) n.526G>C | |
16 | g.177372G>T | CA492994466 | HBA1 | c.390G>T (p.Leu130=) c.294G>T (p.Leu98=) n.526G>T | |
16 | g.177373G>A | CA393995997 | HBA1 | c.391G>A (p.Ala131Thr) c.295G>A (p.Ala99Thr) n.527G>A | dbSNP |
16 | g.177373G>C | CA393995998 | HBA1 | c.391G>C (p.Ala131Pro) c.295G>C (p.Ala99Pro) n.527G>C | |
16 | g.177373G= | CA2200883295 | HBA1 | c.391G= (p.Ala131=) c.295G= (p.Ala99=) n.527G= | |
16 | g.177373G>T | CA393995999 | HBA1 | c.391G>T (p.Ala131Ser) c.295G>T (p.Ala99Ser) n.527G>T | |
16 | g.177374C>A | CA125957 | HBA1 | c.392C>A (p.Ala131Asp) c.296C>A (p.Ala99Asp) n.528C>A | ClinVar dbSNP |
16 | g.177374C= | CA2200883296 | HBA1 | c.392C= (p.Ala131=) c.296C= (p.Ala99=) n.528C= | |
16 | g.177374C>G | CA393996000 | HBA1 | c.392C>G (p.Ala131Gly) c.296C>G (p.Ala99Gly) n.528C>G | |
16 | g.177374C>T | CA7770288 | HBA1 | c.392C>T (p.Ala131Val) c.296C>T (p.Ala99Val) n.528C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.177375T>A | CA492994471 | HBA1 | c.393T>A (p.Ala131=) c.297T>A (p.Ala99=) n.529T>A | |
16 | g.177375T>C | CA7770289 | HBA1 | c.393T>C (p.Ala131=) c.297T>C (p.Ala99=) n.529T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.177375T>G | CA492994469 | HBA1 | c.393T>G (p.Ala131=) c.297T>G (p.Ala99=) n.529T>G | |
16 | g.177375T= | CA2200883297 | HBA1 | c.393T= (p.Ala131=) c.297T= (p.Ala99=) n.529T= | |
16 | g.177376dup | CA2695221237 | HBA1 | c.394dup (p.Ser132PhefsTer?) c.298dup (p.Ser100PhefsTer?) n.530dup | |
16 | g.177376T>A | CA393996001 | HBA1 | c.394T>A (p.Ser132Thr) c.298T>A (p.Ser100Thr) n.530T>A | |
16 | g.177376T>C | CA125939 | HBA1 | c.394T>C (p.Ser132Pro) c.298T>C (p.Ser100Pro) n.530T>C | ClinVar dbSNP |
16 | g.177376T>G | CA393996002 | HBA1 | c.394T>G (p.Ser132Ala) c.298T>G (p.Ser100Ala) n.530T>G | dbSNP gnomAD v4 |
16 | g.177376T= | CA2200883298 | HBA1 | c.394T= (p.Ser132=) c.298T= (p.Ser100=) n.530T= | |
16 | g.177377C>A | CA393996003 | HBA1 | c.395C>A (p.Ser132Tyr) c.299C>A (p.Ser100Tyr) n.531C>A | |
16 | g.177377C= | CA2200883299 | HBA1 | c.395C= (p.Ser132=) c.299C= (p.Ser100=) n.531C= | |
16 | g.177377C>G | CA393996004 | HBA1 | c.395C>G (p.Ser132Cys) c.299C>G (p.Ser100Cys) n.531C>G | |
16 | g.177377C>T | CA276417233 | HBA1 | c.395C>T (p.Ser132Phe) c.299C>T (p.Ser100Phe) n.531C>T | dbSNP |
16 | g.177377_177378delinsCT | CA2200883300 | HBA1 | c.395_396delinsCT (p.Ser132=) c.299_300delinsCT (p.Ser100=) n.531_532delinsCT | |
16 | g.177378del | CA276417241 | HBA1 | c.396del (p.Val133Ter) c.300del (p.Val101Ter) n.532del | dbSNP |
16 | g.177378T>A | CA492994472 | HBA1 | c.396T>A (p.Ser132=) c.300T>A (p.Ser100=) n.532T>A | |
16 | g.177378T>C | CA7770290 | HBA1 | c.396T>C (p.Ser132=) c.300T>C (p.Ser100=) n.532T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.177378T>G | CA492994474 | HBA1 | c.396T>G (p.Ser132=) c.300T>G (p.Ser100=) n.532T>G | |
16 | g.177378T= | CA2200883301 | HBA1 | c.396T= (p.Ser132=) c.300T= (p.Ser100=) n.532T= | |
16 | g.177378dup | CA276417238 | HBA1 | c.396dup (p.Val133CysfsTer?) c.300dup (p.Val101CysfsTer?) n.532dup | ClinVar dbSNP |
16 | g.177379G>A | CA276417245 | HBA1 | c.397G>A (p.Val133Met) c.301G>A (p.Val101Met) n.533G>A | ClinVar dbSNP gnomAD v4 |
16 | g.177379G>C | CA393996006 | HBA1 | c.397G>C (p.Val133Leu) c.301G>C (p.Val101Leu) n.533G>C | |
16 | g.177379G= | CA2200883302 | HBA1 | c.397G= (p.Val133=) c.301G= (p.Val101=) n.533G= | |
16 | g.177379G>T | CA393996005 | HBA1 | c.397G>T (p.Val133Leu) c.301G>T (p.Val101Leu) n.533G>T | |
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 |