Allele Registry

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.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
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
16	g.177390G>C	CA276417281	HBA1	c.408G>C (p.Val136=) c.312G>C (p.Val104=) n.544G>C	dbSNP
16	g.177390G=	CA2200883314	HBA1	c.408G= (p.Val136=) c.312G= (p.Val104=) n.544G=
16	g.177390G>T	CA492994490	HBA1	c.408G>T (p.Val136=) c.312G>T (p.Val104=) n.544G>T
16	g.177391C>A	CA125701	HBA1	c.409C>A (p.Leu137Met) c.313C>A (p.Leu105Met) n.545C>A	ClinVar dbSNP
16	g.177391C=	CA2200883315	HBA1	c.409C= (p.Leu137=) c.313C= (p.Leu105=) n.545C=
16	g.177391C>G	CA393996020	HBA1	c.409C>G (p.Leu137Val) c.313C>G (p.Leu105Val) n.545C>G
16	g.177391C>T	CA492994491	HBA1	c.409C>T (p.Leu137=) c.313C>T (p.Leu105=) n.545C>T
16	g.177392T>A	CA393996021	HBA1	c.410T>A (p.Leu137Gln) c.314T>A (p.Leu105Gln) n.546T>A
16	g.177392T>C	CA276417285	HBA1	c.410T>C (p.Leu137Pro) c.314T>C (p.Leu105Pro) n.546T>C	dbSNP
16	g.177392T>G	CA215116	HBA1	c.410T>G (p.Leu137Arg) c.314T>G (p.Leu105Arg) n.546T>G	ClinVar dbSNP
16	g.177392T=	CA2200883316	HBA1	c.410T= (p.Leu137=) c.314T= (p.Leu105=) n.546T=
16	g.177393G>A	CA492994493	HBA1	c.411G>A (p.Leu137=) c.315G>A (p.Leu105=) n.547G>A	gnomAD v4 COSMIC
16	g.177393G>C	CA492994494	HBA1	c.411G>C (p.Leu137=) c.315G>C (p.Leu105=) n.547G>C
16	g.177393G>T	CA492994495	HBA1	c.411G>T (p.Leu137=) c.315G>T (p.Leu105=) n.547G>T	gnomAD v4
16	g.177394A=	CA2200883317	HBA1	c.412A= (p.Thr138=) c.316A= (p.Thr106=) n.548A=
16	g.177394A>C	CA276417288	HBA1	c.412A>C (p.Thr138Pro) c.316A>C (p.Thr106Pro) n.548A>C	dbSNP
16	g.177394A>G	CA393996022	HBA1	c.412A>G (p.Thr138Ala) c.316A>G (p.Thr106Ala) n.548A>G
16	g.177394A>T	CA393996023	HBA1	c.412A>T (p.Thr138Ser) c.316A>T (p.Thr106Ser) n.548A>T
16	g.177395C>A	CA393996024	HBA1	c.413C>A (p.Thr138Asn) c.317C>A (p.Thr106Asn) n.549C>A
16	g.177395C=	CA2200883318	HBA1	c.413C= (p.Thr138=) c.317C= (p.Thr106=) n.549C=
16	g.177395C>G	CA393996025	HBA1	c.413C>G (p.Thr138Ser) c.317C>G (p.Thr106Ser) n.549C>G
16	g.177395C>T	CA393996026	HBA1	c.413C>T (p.Thr138Ile) c.317C>T (p.Thr106Ile) n.549C>T	ClinVar dbSNP gnomAD v4
16	g.177396C>A	CA492994499	HBA1	c.414C>A (p.Thr138=) c.318C>A (p.Thr106=) n.550C>A
16	g.177396C=	CA2200883319	HBA1	c.414C= (p.Thr138=) c.318C= (p.Thr106=) n.550C=
16	g.177396C>G	CA492994497	HBA1	c.414C>G (p.Thr138=) c.318C>G (p.Thr106=) n.550C>G
16	g.177396C>T	CA492994496	HBA1	c.414C>T (p.Thr138=) c.318C>T (p.Thr106=) n.550C>T	dbSNP gnomAD v4
16	g.177397T>A	CA393996027	HBA1	c.415T>A (p.Ser139Thr) c.319T>A (p.Ser107Thr) n.551T>A
16	g.177397T>C	CA125678	HBA1	c.415T>C (p.Ser139Pro) c.319T>C (p.Ser107Pro) n.551T>C	ClinVar dbSNP
16	g.177397T>G	CA393996028	HBA1	c.415T>G (p.Ser139Ala) c.319T>G (p.Ser107Ala) n.551T>G	dbSNP
16	g.177397T=	CA2200883320	HBA1	c.415T= (p.Ser139=) c.319T= (p.Ser107=) n.551T=
16	g.177398C>A	CA393996029	HBA1	c.416C>A (p.Ser139Tyr) c.320C>A (p.Ser107Tyr) n.552C>A
16	g.177398C=	CA2200883321	HBA1	c.416C= (p.Ser139=) c.320C= (p.Ser107=) n.552C=
16	g.177398C>G	CA276417290	HBA1	c.416C>G (p.Ser139Cys) c.320C>G (p.Ser107Cys) n.552C>G	ClinVar dbSNP
16	g.177398C>T	CA393996030	HBA1	c.416C>T (p.Ser139Phe) c.320C>T (p.Ser107Phe) n.552C>T
16	g.177399C>A	CA492994502	HBA1	c.417C>A (p.Ser139=) c.321C>A (p.Ser107=) n.553C>A	dbSNP gnomAD v2
16	g.177399C=	CA2200883323	HBA1	c.417C= (p.Ser139=) c.321C= (p.Ser107=) n.553C=
16	g.177399C>G	CA276417292	HBA1	c.417C>G (p.Ser139=) c.321C>G (p.Ser107=) n.553C>G	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.177399C>T	CA492994506	HBA1	c.417C>T (p.Ser139=) c.321C>T (p.Ser107=) n.553C>T	gnomAD v4
16	g.177399_177400delinsCA	CA2200883322	HBA1	c.417_418delinsCA (p.Ser139=) c.321_322delinsCA (p.Ser107=) n.553_554delinsCA
16	g.177400A=	CA2200883324	HBA1	c.418A= (p.Lys140=) c.322A= (p.Lys108=) n.554A=
16	g.177400A>C	CA393996031	HBA1	c.418A>C (p.Lys140Gln) c.322A>C (p.Lys108Gln) n.554A>C	gnomAD v4
16	g.177400A>G	CA276417300	HBA1	c.418A>G (p.Lys140Glu) c.322A>G (p.Lys108Glu) n.554A>G	dbSNP
16	g.177400A>T	CA393996032	HBA1	c.418A>T (p.Lys140Ter) c.322A>T (p.Lys108Ter) n.554A>T
16	g.177402del	CA276417297	HBA1	c.420del (p.Lys140AsnfsTer?) c.324del (p.Lys108AsnfsTer?) n.556del	dbSNP
16	g.177401A=	CA2200883325	HBA1	c.419A= (p.Lys140=) c.323A= (p.Lys108=) n.555A=
16	g.177401A>C	CA125909	HBA1	c.419A>C (p.Lys140Thr) c.323A>C (p.Lys108Thr) n.555A>C	ClinVar dbSNP gnomAD v4
16	g.177401A>G	CA393996033	HBA1	c.419A>G (p.Lys140Arg) c.323A>G (p.Lys108Arg) n.555A>G
16	g.177401A>T	CA393996034	HBA1	c.419A>T (p.Lys140Ile) c.323A>T (p.Lys108Ile) n.555A>T
16	g.177402A>C	CA393996035	HBA1	c.420A>C (p.Lys140Asn) c.324A>C (p.Lys108Asn) n.556A>C	gnomAD v4
16	g.177402A>G	CA492994510	HBA1	c.420A>G (p.Lys140=) c.324A>G (p.Lys108=) n.556A>G
16	g.177402A>T	CA393996036	HBA1	c.420A>T (p.Lys140Asn) c.324A>T (p.Lys108Asn) n.556A>T
16	g.177403T>A	CA393996037	HBA1	c.421T>A (p.Tyr141Asn) c.325T>A (p.Tyr109Asn) n.557T>A
16	g.177403T>C	CA125961	HBA1	c.421T>C (p.Tyr141His) c.325T>C (p.Tyr109His) n.557T>C	ClinVar dbSNP
16	g.177403T>G	CA393996038	HBA1	c.421T>G (p.Tyr141Asp) c.325T>G (p.Tyr109Asp) n.557T>G
16	g.177403T=	CA2200883326	HBA1	c.421T= (p.Tyr141=) c.325T= (p.Tyr109=) n.557T=
16	g.177404A>C	CA393996176	HBA1	c.422A>C (p.Tyr141Ser) c.326A>C (p.Tyr109Ser) n.558A>C
16	g.177404A>G	CA393996181	HBA1	c.422A>G (p.Tyr141Cys) c.326A>G (p.Tyr109Cys) n.558A>G
16	g.177404A>T	CA393996183	HBA1	c.422A>T (p.Tyr141Phe) c.326A>T (p.Tyr109Phe) n.558A>T
16	g.177405C>A	CA393996185	HBA1	c.423C>A (p.Tyr141Ter) c.327C>A (p.Tyr109Ter) n.559C>A
16	g.177405C>G	CA393996188	HBA1	c.423C>G (p.Tyr141Ter) c.327C>G (p.Tyr109Ter) n.559C>G
16	g.177405C>T	CA492787333	HBA1	c.423C>T (p.Tyr141=) c.327C>T (p.Tyr109=) n.559C>T	gnomAD v4
16	g.177405_177408delinsCCGT	CA2200883327	HBA1	c.423_426delinsCCGT (p.Tyr141=) c.327_330delinsCCGT (p.Tyr109=) n.559_562delinsCCGT
16	g.177406C>A	CA125773	HBA1	c.424C>A (p.Arg142Ser) c.328C>A (p.Arg110Ser) n.560C>A	ClinVar dbSNP
16	g.177406C=	CA2200883328	HBA1	c.424C= (p.Arg142=) c.328C= (p.Arg110=) n.560C=
16	g.177406C>G	CA125769	HBA1	c.424C>G (p.Arg142Gly) c.328C>G (p.Arg110Gly) n.560C>G	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.177406C>T	CA125845	HBA1	c.424C>T (p.Arg142Cys) c.328C>T (p.Arg110Cys) n.560C>T	ClinVar dbSNP
16	g.177406_177408del	CA125803	HBA1	c.424_426del (p.Arg142del) c.328_330del (p.Arg110del) n.560_562del	ClinVar dbSNP
16	g.177407G>A	CA125901	HBA1	c.425G>A (p.Arg142His) c.329G>A (p.Arg110His) n.561G>A	ClinVar dbSNP
16	g.177407G>C	CA125889	HBA1	c.425G>C (p.Arg142Pro) c.329G>C (p.Arg110Pro) n.561G>C	ClinVar dbSNP gnomAD v4
16	g.177407G=	CA2200883329	HBA1	c.425G= (p.Arg142=) c.329G= (p.Arg110=) n.561G=
16	g.177407G>T	CA125809	HBA1	c.425G>T (p.Arg142Leu) c.329G>T (p.Arg110Leu) n.561G>T	ClinVar dbSNP
16	g.177408T>A	CA492787335	HBA1	c.426T>A (p.Arg142=) c.330T>A (p.Arg110=) n.562T>A
16	g.177408T>C	CA492787337	HBA1	c.426T>C (p.Arg142=) c.330T>C (p.Arg110=) n.562T>C
16	g.177408T>G	CA492787336	HBA1	c.426T>G (p.Arg142=) c.330T>G (p.Arg110=) n.562T>G
16	g.177409T>A	CA393996194	HBA1	c.427T>A (p.Ter143Lys) c.331T>A (p.Ter111Lys) n.563T>A
16	g.177409T>C	CA393996195	HBA1	c.427T>C (p.Ter143Gln) c.331T>C (p.Ter111Gln) n.563T>C
16	g.177409T>G	CA393996196	HBA1	c.427T>G (p.Ter143Glu) c.331T>G (p.Ter111Glu) n.563T>G
16	g.177410A>C	CA393996198	HBA1	c.428A>C (p.Ter143Ser) c.332A>C (p.Ter111Ser) n.564A>C
16	g.177410A>G	CA492787338	HBA1	c.428A>G (p.Ter143=) c.332A>G (p.Ter111=) n.564A>G
16	g.177410A>T	CA393996199	HBA1	c.428A>T (p.Ter143Leu) c.332A>T (p.Ter111Leu) n.564A>T
16	g.177411A=	CA2200883330	HBA1	c.429A= (p.Ter143=) c.333A= (p.Ter111=) n.565A=
16	g.177411A>C	CA393996201	HBA1	c.429A>C (p.Ter143Tyr) c.333A>C (p.Ter111Tyr) n.565A>C	gnomAD v4
16	g.177411A>G	CA492787339	HBA1	c.429A>G (p.Ter143=) c.333A>G (p.Ter111=) n.565A>G	dbSNP
16	g.177411A>T	CA393996202	HBA1	c.429A>T (p.Ter143Tyr) c.333A>T (p.Ter111Tyr) n.565A>T
16	g.177412G>A	CA2740096800	HBA1	c.1G>A (n.1G>A) n.566G>A	ClinVar
16	g.177413C>A	CA973584962	HBA1	c.2C>A (n.2C>A) n.567C>A	dbSNP gnomAD v3 gnomAD v4
16	g.177413C=	CA2200883331	HBA1	c.2C= (n.2C=) n.567C=
16	g.177413C>T	CA2630736365	HBA1	c.2C>T (n.2C>T) n.567C>T	gnomAD v4
16	g.177416G>C	CA2805501956	HBA1	c.5G>C (n.5G>C) n.570G>C
16	g.177417A=	CA2200883332	HBA1	c.6A= (n.6A=) n.571A=
16	g.177417A>G	CA620161667	HBA1	c.6A>G (n.6A>G) n.571A>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.177419C=	CA2200883333	HBA1	c.8C= (n.8C=) n.573C=
16	g.177419C>G	CA2630736371	HBA1	c.8C>G (n.8C>G) n.573C>G	gnomAD v4
16	g.177419C>T	CA973584964	HBA1	c.8C>T (n.8C>T) n.573C>T	dbSNP gnomAD v3 gnomAD v4
16	g.177420C>A	CA2731576131	HBA1	c.9C>A (n.9C>A) n.574C>A	dbSNP
16	g.177420C=	CA2200883334	HBA1	c.9C= (n.9C=) n.574C=
16	g.177420C>G	CA2575852743	HBA1	c.9C>G (n.9C>G) n.574C>G	gnomAD v4
16	g.177420C>T	CA7770292	HBA1	c.9C>T (n.9C>T) n.574C>T	dbSNP ExAC gnomAD v2
16	g.177422C=	CA2200883335	HBA1	c.11C= (n.11C=) n.576C=
16	g.177422C>G	CA718607583	HBA1	c.11C>G (n.11C>G) n.576C>G	dbSNP gnomAD v3 gnomAD v4
16	g.177422C>T	CA7770293	HBA1	c.11C>T (n.11C>T) n.576C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.177423G>A	CA7770294	HBA1	c.12G>A (n.12G>A) n.577G>A	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.177423G>C	CA7770295	HBA1	c.12G>C (n.12G>C) n.577G>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.177423G=	CA2200883336	HBA1	c.12G= (n.12G=) n.577G=
16	g.177425T>A	CA2630736379	HBA1	c.14T>A (n.14T>A) n.579T>A	gnomAD v4
16	g.177426G>A	CA620161668	HBA1	c.15G>A (n.15G>A) n.580G>A	dbSNP gnomAD v2 gnomAD v4
16	g.177426G=	CA2200883337	HBA1	c.15G= (n.15G=) n.580G=
16	g.177426G>T	CA2630736381	HBA1	c.15G>T (n.15G>T) n.580G>T	gnomAD v4
16	g.177427G>A	CA2575852744	HBA1	c.16G>A (n.16G>A) n.581G>A	dbSNP gnomAD v4
16	g.177427G>T	CA2630736385	HBA1	c.16G>T (n.16G>T) n.581G>T	gnomAD v4
16	g.177428C>T	CA2731775787	HBA1	c.17C>T (n.17C>T) n.582C>T	dbSNP
16	g.177429C>T	CA2731775788	HBA1	c.18C>T (n.18C>T) n.583C>T	dbSNP
16	g.177430A=	CA2200883338	HBA1	c.19A= (n.19A=) n.584A=
16	g.177430A>C	CA2731571764	HBA1	c.19A>C (n.19A>C) n.584A>C	dbSNP
16	g.177430A>G	CA7770296	HBA1	c.19A>G (n.19A>G) n.584A>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.177430A>T	CA2630736387	HBA1	c.19A>T (n.19A>T) n.584A>T	gnomAD v4
16	g.177431T>C	CA2630736390	HBA1	c.20T>C (n.20T>C) n.585T>C	gnomAD v4
16	g.177431T>G	CA2200883340	HBA1	c.20T>G (n.20T>G) n.585T>G	dbSNP gnomAD v4
16	g.177431T=	CA2200883339	HBA1	c.20T= (n.20T=) n.585T=
16	g.177432G>A	CA620161669	HBA1	c.21G>A (n.21G>A) n.586G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.177432G=	CA2200883342	HBA1	c.21G= (n.21G=) n.586G=
16	g.177432G>T	CA620161670	HBA1	c.21G>T (n.21G>T) n.586G>T	dbSNP gnomAD v2 gnomAD v4
16	g.177432_177435delinsGCTT	CA2200883341	HBA1	c.21_24delinsGCTT (n.21_24delinsGCTT) n.586_589delinsGCTT
16	g.177433C=	CA2200883343	HBA1	c.22C= (n.22C=) n.587C=
16	g.177433C>T	CA620161671	HBA1	c.22C>T (n.22C>T) n.587C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.177436_177438del	CA7770297	HBA1	c.25_27del (n.25_27del) n.590_592del	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.177434T>C	CA620161672	HBA1	c.23T>C (n.23T>C) n.588T>C	dbSNP gnomAD v2 gnomAD v4
16	g.177434T=	CA2200883344	HBA1	c.23T= (n.23T=) n.588T=
16	g.177436C=	CA2200883345	HBA1	c.25C= (n.25C=) n.590C=
16	g.177436C>G	CA2561285742	HBA1	c.25C>G (n.25C>G) n.590C>G	gnomAD v4
16	g.177436C>T	CA656728502	HBA1	c.25C>T (n.25C>T) n.590C>T	dbSNP gnomAD v3 gnomAD v4 COSMIC
16	g.177437T>C	CA276417321	HBA1	c.26T>C (n.26T>C) n.591T>C	dbSNP gnomAD v2 gnomAD v4
16	g.177437T=	CA2200883346	HBA1	c.26T= (n.26T=) n.591T=
16	g.177440C>A	CA2630736403	HBA1	c.29C>A (n.29C>A) n.594C>A	gnomAD v4
16	g.177440C=	CA2200883347	HBA1	c.29C= (n.29C=) n.594C=
16	g.177440C>G	CA2200883348	HBA1	c.29C>G (n.29C>G) n.594C>G	dbSNP
16	g.177440C>T	CA276417330	HBA1	c.29C>T (n.29C>T) n.594C>T	dbSNP
16	g.177441C=	CA2200883349	HBA1	c.30C= (n.30C=) n.595C=
16	g.177441C>G	CA2630736405	HBA1	c.30C>G (n.30C>G) n.595C>G	gnomAD v4
16	g.177441C>T	CA7770298	HBA1	c.30C>T (n.30C>T) n.595C>T	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.177442C=	CA2200883350	HBA1	c.31C= (n.31C=) n.596C=
16	g.177442C>G	CA7770299	HBA1	c.31C>G (n.31C>G) n.596C>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.177443C>A	CA2630736409	HBA1	c.32C>A (n.32C>A) n.597C>A	gnomAD v4
16	g.177443C=	CA2200883351	HBA1	c.32C= (n.32C=) n.597C=
16	g.177443C>G	CA620161673	HBA1	c.32C>G (n.32C>G) n.597C>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.177444T>C	CA7770300	HBA1	c.33T>C (n.33T>C) n.598T>C	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.177444T>G	CA2630736413	HBA1	c.33T>G (n.33T>G) n.598T>G	gnomAD v4
16	g.177444T=	CA2200883352	HBA1	c.33T= (n.33T=) n.598T=
16	g.177445T>A	CA2200883354	HBA1	c.34T>A (n.34T>A) n.599T>A	dbSNP
16	g.177445T>C	CA656728503	HBA1	c.34T>C (n.34T>C) n.599T>C	dbSNP COSMIC
16	g.177445T=	CA2200883353	HBA1	c.34T= (n.34T=) n.599T=
16	g.177446G>T	CA2575852745	HBA1	c.35G>T (n.35G>T) n.600G>T
16	g.177448dup	CA620161674	HBA1	c.37dup (n.37dup) n.602dup	dbSNP gnomAD v2 gnomAD v4
16	g.177447G>A	CA620161675	HBA1	c.36G>A (n.36G>A) n.601G>A	dbSNP gnomAD v2
16	g.177447G=	CA2200883355	HBA1	c.36G= (n.36G=) n.601G=
16	g.177447G>T	CA2630736414	HBA1	c.36G>T (n.36G>T) n.601G>T	gnomAD v4
16	g.177448G>A	CA620161676	HBA1	c.37G>A (n.37G>A) n.602G>A	dbSNP gnomAD v2 gnomAD v4
16	g.177448G=	CA2200883356	HBA1	c.37G= (n.37G=) n.602G=
16	g.177449C>A	CA2630736415	HBA1	c.38C>A (n.38C>A) n.603C>A	gnomAD v4
16	g.177449C>T	CA2630736416	HBA1	c.38C>T (n.38C>T) n.603C>T	gnomAD v4
16	g.177450C>A	CA2630736418	HBA1	c.39C>A (n.39C>A) n.604C>A	gnomAD v4
16	g.177450C=	CA2200883357	HBA1	c.39C= (n.39C=) n.604C=
16	g.177450C>G	CA2630736417	HBA1	c.39C>G (n.39C>G) n.604C>G	gnomAD v4
16	g.177450C>T	CA276417335	HBA1	c.39C>T (n.39C>T) n.604C>T	dbSNP
16	g.177450_177451delinsCT	CA2200883358	HBA1	c.39_40delinsCT (n.39_40delinsCT) n.604_605delinsCT
16	g.177451del	CA718607619	HBA1	c.40del (n.40del) n.605del	dbSNP gnomAD v3 gnomAD v4
16	g.177451T>C	CA2630736419	HBA1	c.40T>C (n.40T>C) n.605T>C	gnomAD v4
16	g.177451_177452delinsTC	CA2200883359	HBA1	c.40_41delinsTC (n.40_41delinsTC) n.605_606delinsTC
16	g.177452C>A	CA7770301	HBA1	c.41C>A (n.41C>A) n.606C>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.177452C=	CA2200883362	HBA1	c.41C= (n.41C=) n.606C=
16	g.177452C>G	CA2630736420	HBA1	c.41C>G (n.41C>G) n.606C>G	gnomAD v4
16	g.177452C>T	CA620161677	HBA1	c.41C>T (n.41C>T) n.606C>T	dbSNP gnomAD v2 gnomAD v4
16	g.177457dup	CA2200883360	HBA1	c.46dup (n.46dup) n.611dup	dbSNP gnomAD v4
16	g.177457del	CA2200883361	HBA1	c.46del (n.46del) n.611del	dbSNP gnomAD v4
16	g.177453C=	CA2200883363	HBA1	c.42C= (n.42C=) n.607C=
16	g.177453C>T	CA7770302	HBA1	c.42C>T (n.42C>T) n.607C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.177453_177459delinsCCCCCAG	CA2200883364	HBA1	c.42_48delinsCCCCCAG (n.42_48delinsCCCCCAG) n.607_613delinsCCCCCAG
16	g.177454C>A	CA2630736424	HBA1	c.43C>A (n.43C>A) n.608C>A	gnomAD v4
16	g.177454C>T	CA2630736425	HBA1	c.43C>T (n.43C>T) n.608C>T	gnomAD v4
16	g.177458_177463del	CA620161678	HBA1	c.47_52del (n.47_52del) n.612_617del	dbSNP gnomAD v2 gnomAD v4
16	g.177455C>A	CA620161679	HBA1	c.44C>A (n.44C>A) n.609C>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.177455C=	CA2200883365	HBA1	c.44C= (n.44C=) n.609C=
16	g.177455C>T	CA7770303	HBA1	c.44C>T (n.44C>T) n.609C>T	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.177456C>A	CA620161680	HBA1	c.45C>A (n.45C>A) n.610C>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.177456C=	CA2200883366	HBA1	c.45C= (n.45C=) n.610C=
16	g.177456C>G	CA1139664217	HBA1	c.45C>G (n.45C>G) n.610C>G	ClinVar dbSNP
16	g.177457C>A	CA7770304	HBA1	c.46C>A (n.46C>A) n.611C>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.177457C=	CA2200883367	HBA1	c.46C= (n.46C=) n.611C=
16	g.177457C>G	CA2581242361	HBA1	c.46C>G (n.46C>G) n.611C>G
16	g.177457C>T	CA7770305	HBA1	c.46C>T (n.46C>T) n.611C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.177458A=	CA2200883368	HBA1	c.47A= (n.47A=) n.612A=
16	g.177458A>C	CA2200883369	HBA1	c.47A>C (n.47A>C) n.612A>C	dbSNP gnomAD v4
16	g.177458A>G	CA620161681	HBA1	c.47A>G (n.47A>G) n.612A>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.177459del	CA2630736435	HBA1	c.48del (n.48del) n.613del	gnomAD v4
16	g.177459G>A	CA2200883371	HBA1	c.48G>A (n.48G>A) n.613G>A	dbSNP gnomAD v4
16	g.177459G>C	CA2200883372	HBA1	c.48G>C (n.48G>C) n.613G>C	dbSNP gnomAD v4
16	g.177459G=	CA2200883370	HBA1	c.48G= (n.48G=) n.613G=
16	g.177459G>T	CA2630736441	HBA1	c.48G>T (n.48G>T) n.613G>T	gnomAD v4
16	g.177460C=	CA2200883373	HBA1	c.49C= (n.49C=) n.614C=
16	g.177460C>G	CA620161683	HBA1	c.49C>G (n.49C>G) n.614C>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.177460C>T	CA620161682	HBA1	c.49C>T (n.49C>T) n.614C>T	dbSNP gnomAD v2 gnomAD v4
16	g.177463del	CA2630736443	HBA1	c.52del (n.52del) n.617del	gnomAD v4
16	g.177460_177461insACCAACCACCCAAA	CA2805501957	HBA1	c.49_50insACCAACCACCCAAA (n.49_50insACCAACCACCCAAA) n.614_615insACCAACCACCCAAA
16	g.177461C>A	CA2630736445	HBA1	c.50C>A (n.50C>A) n.615C>A	gnomAD v4
16	g.177461C>T	CA2630736446	HBA1	c.50C>T (n.50C>T) n.615C>T	gnomAD v4
16	g.177461_177464delinsCCCT	CA2200883374	HBA1	c.50_53delinsCCCT (n.50_53delinsCCCT) n.615_618delinsCCCT
16	g.177462C=	CA2200883375	HBA1	c.51C= (n.51C=) n.616C=
16	g.177462C>T	CA7770307	HBA1	c.51C>T (n.51C>T) n.616C>T	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.177467_177469del	CA7770306	HBA1	c.56_58del (n.56_58del) n.621_623del	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.177464T>A	CA2630736450	HBA1	c.53T>A (n.53T>A) n.618T>A	gnomAD v4
16	g.177464T>C	CA2575852746	HBA1	c.53T>C (n.53T>C) n.618T>C	gnomAD v4
16	g.177466C=	CA2200883376	HBA1	c.55C= (n.55C=) n.620C=
16	g.177466C>T	CA718682333	HBA1	c.55C>T (n.55C>T) n.620C>T	dbSNP
16	g.177467T>A	CA2630736451	HBA1	c.56T>A (n.56T>A) n.621T>A	gnomAD v4
16	g.177468C>A	CA2630736453	HBA1	c.57C>A (n.57C>A) n.622C>A	gnomAD v4
16	g.177468C=	CA2200883377	HBA1	c.57C= (n.57C=) n.622C=
16	g.177468C>T	CA2200883378	HBA1	c.57C>T (n.57C>T) n.622C>T	dbSNP gnomAD v4
16	g.177471del	CA2575852747	HBA1	c.60del (n.60del) n.625del
16	g.177470_177471del	CA2805501958	HBA1	c.59_60del (n.59_60del) n.624_625del
16	g.177469C>A	CA2630736456	HBA1	c.58C>A (n.58C>A) n.623C>A	gnomAD v4
16	g.177469C>T	CA2630736458	HBA1	c.58C>T (n.58C>T) n.623C>T	gnomAD v4
16	g.177470C>A	CA2575852748	HBA1	c.59C>A (n.59C>A) n.624C>A	gnomAD v4
16	g.177470C>G	CA2630736460	HBA1	c.59C>G (n.59C>G) n.624C>G	gnomAD v4
16	g.177471C>A	CA2630736462	HBA1	c.60C>A (n.60C>A) n.625C>A	gnomAD v4
16	g.177471C>G	CA2630736463	HBA1	c.60C>G (n.60C>G) n.625C>G	gnomAD v4
16	g.177472T>G	CA2630736464	HBA1	c.61T>G (n.61T>G) n.626T>G	gnomAD v4
16	g.177473T>A	CA2630736466	HBA1	c.62T>A (n.62T>A) n.627T>A	gnomAD v4
16	g.177473T>C	CA620161684	HBA1	c.62T>C (n.62T>C) n.627T>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.177473T=	CA2200883379	HBA1	c.62T= (n.62T=) n.627T=
16	g.177474_177476del	CA2695221238	HBA1	c.63_65del (n.63_65del) n.628_630del
16	g.177476_177482dup	CA2630736467	HBA1	c.65_71dup (n.65_71dup) n.630_636dup	gnomAD v4

Number of alleles fetched